21 | g.45987902_45990422del | CA2573320392 | COL6A1 | c.804+248_1002del
| |
21 | g.45990391_45990399del | CA2573157624 | COL6A1 | c.971_979del (p.Lys324_Gly326del)
| ClinVar dbSNP |
21 | g.45990390A>C | CA410522641 | COL6A1 | c.970A>C (p.Lys324Gln)
| |
21 | g.45990390A>G | CA410522643 | COL6A1 | c.970A>G (p.Lys324Glu)
| |
21 | g.45990390A>T | CA410522644 | COL6A1 | c.970A>T (p.Lys324Ter)
| |
21 | g.45990391A>C | CA410522646 | COL6A1 | c.971A>C (p.Lys324Thr)
| |
21 | g.45990391A>G | CA410522650 | COL6A1 | c.971A>G (p.Lys324Arg)
| |
21 | g.45990391A>T | CA410522648 | COL6A1 | c.971A>T (p.Lys324Met)
| |
21 | g.45990392G>A | CA512713265 | COL6A1 | c.972G>A (p.Lys324=)
| |
21 | g.45990392G>C | CA410522652 | COL6A1 | c.972G>C (p.Lys324Asn)
| |
21 | g.45990392G>T | CA410522654 | COL6A1 | c.972G>T (p.Lys324Asn)
| |
21 | g.45990393C>A | CA410522656 | COL6A1 | c.973C>A (p.Arg325Ser)
| |
21 | g.45990393C= | CA2392434110 | COL6A1 | c.973C= (p.Arg325=)
| |
21 | g.45990393C>G | CA10069945 | COL6A1 | c.973C>G (p.Arg325Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990393C>T | CA10069944 | COL6A1 | c.973C>T (p.Arg325Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990394G>A | CA410522660 | COL6A1 | c.974G>A (p.Arg325His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990394G>C | CA410522662 | COL6A1 | c.974G>C (p.Arg325Pro)
| |
21 | g.45990394G= | CA2392434111 | COL6A1 | c.974G= (p.Arg325=)
| |
21 | g.45990394G>T | CA410522664 | COL6A1 | c.974G>T (p.Arg325Leu)
| |
21 | g.45990395T>A | CA512713287 | COL6A1 | c.975T>A (p.Arg325=)
| |
21 | g.45990395T>C | CA512713285 | COL6A1 | c.975T>C (p.Arg325=)
| |
21 | g.45990395T>G | CA512713283 | COL6A1 | c.975T>G (p.Arg325=)
| gnomAD v3 gnomAD v4 |
21 | g.45990396G>A | CA410522666 | COL6A1 | c.976G>A (p.Gly326Ser)
| |
21 | g.45990396G>C | CA410522668 | COL6A1 | c.976G>C (p.Gly326Arg)
| |
21 | g.45990396G>T | CA410522669 | COL6A1 | c.976G>T (p.Gly326Cys)
| |
21 | g.45990397G>A | CA410522670 | COL6A1 | c.977G>A (p.Gly326Asp)
| COSMIC |
21 | g.45990397G>C | CA410522673 | COL6A1 | c.977G>C (p.Gly326Ala)
| |
21 | g.45990397G>T | CA410522671 | COL6A1 | c.977G>T (p.Gly326Val)
| |
21 | g.45990398C>A | CA512713300 | COL6A1 | c.978C>A (p.Gly326=)
| |
21 | g.45990398C= | CA2392434112 | COL6A1 | c.978C= (p.Gly326=)
| |
21 | g.45990398C>G | CA512713302 | COL6A1 | c.978C>G (p.Gly326=)
| |
21 | g.45990398C>T | CA512713304 | COL6A1 | c.978C>T (p.Gly326=)
| dbSNP |
21 | g.45990399A= | CA2392434113 | COL6A1 | c.979A= (p.Ile327=)
| |
21 | g.45990399A>C | CA410522675 | COL6A1 | c.979A>C (p.Ile327Leu)
| |
21 | g.45990399A>G | CA10069946 | COL6A1 | c.979A>G (p.Ile327Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990399A>T | CA410522677 | COL6A1 | c.979A>T (p.Ile327Phe)
| |
21 | g.45990400T>A | CA410522680 | COL6A1 | c.980T>A (p.Ile327Asn)
| |
21 | g.45990400T>C | CA410522681 | COL6A1 | c.980T>C (p.Ile327Thr)
| |
21 | g.45990400T>G | CA410522683 | COL6A1 | c.980T>G (p.Ile327Ser)
| |
21 | g.45990401C>A | CA512713317 | COL6A1 | c.981C>A (p.Ile327=)
| |
21 | g.45990401C= | CA2392434114 | COL6A1 | c.981C= (p.Ile327=)
| |
21 | g.45990401C>G | CA410522685 | COL6A1 | c.981C>G (p.Ile327Met)
| gnomAD v4 |
21 | g.45990401C>T | CA240061 | COL6A1 | c.981C>T (p.Ile327=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990401_45990408del | CA1022879577 | COL6A1 | c.981_988del (p.Asp328GlyfsTer22)
| gnomAD v3 gnomAD v4 |
21 | g.45990401_45990484delinsCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGG | CA2392434115 | COL6A1 | c.981_1002+62delinsCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGG
| |
21 | g.45990402G>A | CA10069947 | COL6A1 | c.982G>A (p.Asp328Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990402G>C | CA410522689 | COL6A1 | c.982G>C (p.Asp328His)
| |
21 | g.45990402G= | CA2392434116 | COL6A1 | c.982G= (p.Asp328=)
| |
21 | g.45990402G>T | CA10069948 | COL6A1 | c.982G>T (p.Asp328Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990407_45990415del | CA2695230388 | COL6A1 | c.987_995del (p.Val330_Gly332del)
| |
21 | g.45990407_45990489del | CA1022879584 | COL6A1 | c.987_1002+67del
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990404_45990521del | CA1022879585 | COL6A1 | c.984_1002+99del
| gnomAD v3 gnomAD v4 |
21 | g.45990403A>C | CA410522691 | COL6A1 | c.983A>C (p.Asp328Ala)
| COSMIC |
21 | g.45990403A>G | CA410522693 | COL6A1 | c.983A>G (p.Asp328Gly)
| |
21 | g.45990403A>T | CA410522694 | COL6A1 | c.983A>T (p.Asp328Val)
| |
21 | g.45990404C>A | CA410522697 | COL6A1 | c.984C>A (p.Asp328Glu)
| |
21 | g.45990404C= | CA2392434117 | COL6A1 | c.984C= (p.Asp328=)
| |
21 | g.45990404C>G | CA410522695 | COL6A1 | c.984C>G (p.Asp328Glu)
| |
21 | g.45990404C>T | CA10069949 | COL6A1 | c.984C>T (p.Asp328=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45990404_45990615delinsCGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGT | CA2392434118 | COL6A1 | c.984_1003-158delinsCGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGT
| |
21 | g.45990405G>A | CA10069950 | COL6A1 | c.985G>A (p.Gly329Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45990405G>C | CA410522699 | COL6A1 | c.985G>C (p.Gly329Arg)
| |
21 | g.45990405G= | CA2392434119 | COL6A1 | c.985G= (p.Gly329=)
| |
21 | g.45990405G>T | CA410522701 | COL6A1 | c.985G>T (p.Gly329Trp)
| dbSNP |
21 | g.45990411_45990412insGATGGGGTGG | CA2521489183 | COL6A1 | c.991_992insGATGGGGTGG (p.Asp331GlyfsTer25)
| |
21 | g.45990405_45990420del | CA1022879603 | COL6A1 | c.985_1000del (p.Gly329ArgfsTer?)
| gnomAD v3 gnomAD v4 |
21 | g.45990414_45990531del | CA1022879606 | COL6A1 | c.994_1002+109del
| gnomAD v3 gnomAD v4 |
21 | g.45990416_45990626del | CA1022879599 | COL6A1 | c.996_1003-147del
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990406G>A | CA410522704 | COL6A1 | c.986G>A (p.Gly329Glu)
| |
21 | g.45990406G>C | CA410522705 | COL6A1 | c.986G>C (p.Gly329Ala)
| |
21 | g.45990406G>T | CA410522706 | COL6A1 | c.986G>T (p.Gly329Val)
| |
21 | g.45990407G>A | CA512713350 | COL6A1 | c.987G>A (p.Gly329=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990407G>C | CA512713352 | COL6A1 | c.987G>C (p.Gly329=)
| gnomAD v4 |
21 | g.45990407G= | CA2392434121 | COL6A1 | c.987G= (p.Gly329=)
| |
21 | g.45990407G>T | CA512713354 | COL6A1 | c.987G>T (p.Gly329=)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990407_45990490delinsGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGA | CA2392434120 | COL6A1 | c.987_1002+68delinsGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGA
| |
21 | g.45990408G>A | CA321964462 | COL6A1 | c.988G>A (p.Val330Met)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990408G>C | CA410522708 | COL6A1 | c.988G>C (p.Val330Leu)
| |
21 | g.45990408G= | CA2392434122 | COL6A1 | c.988G= (p.Val330=)
| |
21 | g.45990408G>T | CA410522709 | COL6A1 | c.988G>T (p.Val330Leu)
| |
21 | g.45990411_45990419del | CA2580098947 | COL6A1 | c.991_999del (p.Asp331_Val333del)
| ClinVar |
21 | g.45990409_45990478del | CA2695230389 | COL6A1 | c.989_1002+56del
| |
21 | g.45990428_45990510del | CA10069951 | COL6A1 | c.1002+6_1002+88del
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990409T>A | CA410522711 | COL6A1 | c.989T>A (p.Val330Glu)
| |
21 | g.45990409T>C | CA410522712 | COL6A1 | c.989T>C (p.Val330Ala)
| |
21 | g.45990409T>G | CA410522715 | COL6A1 | c.989T>G (p.Val330Gly)
| gnomAD v4 |
21 | g.45990409_45990420del | CA1022879614 | COL6A1 | c.989_1000del (p.Val330_Lys334delinsGlu)
| gnomAD v3 gnomAD v4 |
21 | g.45990410G>A | CA512713367 | COL6A1 | c.990G>A (p.Val330=)
| dbSNP |
21 | g.45990410G>C | CA512713369 | COL6A1 | c.990G>C (p.Val330=)
| |
21 | g.45990410G= | CA2392434123 | COL6A1 | c.990G= (p.Val330=)
| |
21 | g.45990410G>T | CA512713371 | COL6A1 | c.990G>T (p.Val330=)
| |
21 | g.45990411_45990485del | CA1022879618 | COL6A1 | c.991_1002+63del
| gnomAD v3 gnomAD v4 |
21 | g.45990411G>A | CA410522721 | COL6A1 | c.991G>A (p.Asp331Asn)
| |
21 | g.45990411G>C | CA410522719 | COL6A1 | c.991G>C (p.Asp331His)
| |
21 | g.45990411G>T | CA410522717 | COL6A1 | c.991G>T (p.Asp331Tyr)
| dbSNP |
21 | g.45990412A>C | CA410522726 | COL6A1 | c.992A>C (p.Asp331Ala)
| |
21 | g.45990412A>G | CA410522723 | COL6A1 | c.992A>G (p.Asp331Gly)
| |
21 | g.45990412A>T | CA410522724 | COL6A1 | c.992A>T (p.Asp331Val)
| |
21 | g.45990413C>A | CA410522728 | COL6A1 | c.993C>A (p.Asp331Glu)
| |
21 | g.45990413C= | CA2392434124 | COL6A1 | c.993C= (p.Asp331=)
| |
21 | g.45990413C>G | CA410522730 | COL6A1 | c.993C>G (p.Asp331Glu)
| gnomAD v4 |
21 | g.45990413C>T | CA10069952 | COL6A1 | c.993C>T (p.Asp331=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990413_45990419delinsCGGCGTG | CA2392434125 | COL6A1 | c.993_999delinsCGGCGTG (p.Asp331=)
| |
21 | g.45990413_45990489delinsCGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGG | CA2392434126 | COL6A1 | c.993_1002+67delinsCGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGG
| |
21 | g.45990414G>A | CA10069953 | COL6A1 | c.994G>A (p.Gly332Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990414G>C | CA410522734 | COL6A1 | c.994G>C (p.Gly332Arg)
| |
21 | g.45990414G= | CA2392434127 | COL6A1 | c.994G= (p.Gly332=)
| |
21 | g.45990414G>T | CA410522735 | COL6A1 | c.994G>T (p.Gly332Cys)
| gnomAD v4 |
21 | g.45990414_45990419del | CA1022879632 | COL6A1 | c.994_999del (p.Gly332_Val333del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990414_45990489del | CA1022879634 | COL6A1 | c.994_1002+67del
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990415G>A | CA410522737 | COL6A1 | c.995G>A (p.Gly332Asp)
| |
21 | g.45990415G>C | CA410522738 | COL6A1 | c.995G>C (p.Gly332Ala)
| |
21 | g.45990415G>T | CA410522740 | COL6A1 | c.995G>T (p.Gly332Val)
| ClinVar |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG | CA2654958444 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
| gnomAD v4 |
21 | g.45990416C>A | CA512713399 | COL6A1 | c.996C>A (p.Gly332=)
| dbSNP gnomAD v4 |
21 | g.45990416C= | CA2392434128 | COL6A1 | c.996C= (p.Gly332=)
| |
21 | g.45990416C>G | CA512713400 | COL6A1 | c.996C>G (p.Gly332=)
| |
21 | g.45990416C>T | CA10069954 | COL6A1 | c.996C>T (p.Gly332=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990417G>A | CA10069955 | COL6A1 | c.997G>A (p.Val333Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45990417G>C | CA410522746 | COL6A1 | c.997G>C (p.Val333Leu)
| |
21 | g.45990417G= | CA2392434129 | COL6A1 | c.997G= (p.Val333=)
| |
21 | g.45990417G>T | CA410522744 | COL6A1 | c.997G>T (p.Val333Leu)
| ClinVar |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG | CA2697547587 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
| ClinVar |
21 | g.45990428_45990545del | CA1022879645 | COL6A1 | c.1002+6_1002+123del
| gnomAD v3 gnomAD v4 |
21 | g.45990428_45990638del | CA2573157625 | COL6A1 | c.1002+6_1003-135del
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990418del | CA1022879655 | COL6A1 | c.998del (p.Val333GlyfsTer?)
| gnomAD v3 gnomAD v4 |
21 | g.45990418T>A | CA410522748 | COL6A1 | c.998T>A (p.Val333Glu)
| |
21 | g.45990418T>C | CA10069956 | COL6A1 | c.998T>C (p.Val333Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990418T>G | CA410522750 | COL6A1 | c.998T>G (p.Val333Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990418T= | CA2392434130 | COL6A1 | c.998T= (p.Val333=)
| |
21 | g.45990419G>A | CA512713416 | COL6A1 | c.999G>A (p.Val333=)
| dbSNP |
21 | g.45990419G>C | CA512713418 | COL6A1 | c.999G>C (p.Val333=)
| |
21 | g.45990419G= | CA2392434131 | COL6A1 | c.999G= (p.Val333=)
| |
21 | g.45990419G>T | CA512713420 | COL6A1 | c.999G>T (p.Val333=)
| gnomAD v4 |
21 | g.45990420A>C | CA410522753 | COL6A1 | c.1000A>C (p.Lys334Gln)
| |
21 | g.45990420A>G | CA410522755 | COL6A1 | c.1000A>G (p.Lys334Glu)
| |
21 | g.45990420A>T | CA410522756 | COL6A1 | c.1000A>T (p.Lys334Ter)
| |
21 | g.45990420_45990421del | CA2517465707 | COL6A1 | c.1000_1001del (p.Lys334GlyfsTer18)
| |
21 | g.45990421A= | CA2392434132 | COL6A1 | c.1001A= (p.Lys334=)
| |
21 | g.45990421A>C | CA410522759 | COL6A1 | c.1001A>C (p.Lys334Thr)
| |
21 | g.45990421A>G | CA410522761 | COL6A1 | c.1001A>G (p.Lys334Arg)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990421A>T | CA410522760 | COL6A1 | c.1001A>T (p.Lys334Met)
| gnomAD v4 |
21 | g.45990421_45990497del | CA1022879662 | COL6A1 | c.1001_1002+75del
| gnomAD v3 gnomAD v4 |
21 | g.45990422G>A | CA512713436 | COL6A1 | c.1002G>A (p.Lys334=)
| dbSNP |
21 | g.45990422G>C | CA410522763 | COL6A1 | c.1002G>C (p.Lys334Asn)
| |
21 | g.45990422G= | CA2392434133 | COL6A1 | c.1002G= (p.Lys334=)
| |
21 | g.45990422G>T | CA410522765 | COL6A1 | c.1002G>T (p.Lys334Asn)
| gnomAD v3 gnomAD v4 |
21 | g.45990423del | CA2695230390 | COL6A1 | c.1002+1del
| |
21 | g.45990423G>A | CA10605928 | COL6A1 | c.1002+1G>A (n.1002+1G>A)
| ClinVar dbSNP |
21 | g.45990423G>C | CA410522768 | COL6A1 | c.1002+1G>C (n.1002+1G>C)
| ClinVar dbSNP |
21 | g.45990423G= | CA2392434134 | COL6A1 | c.1002+1G= (n.1002+1G=)
| |
21 | g.45990423G>T | CA10605839 | COL6A1 | c.1002+1G>T (n.1002+1G>T)
| ClinVar dbSNP |
21 | g.45990424_45990444del | CA1022879676 | COL6A1 | c.1002+2_1002+22del (n.1002+2_1002+22del)
| gnomAD v3 gnomAD v4 |
21 | g.45990424del | CA1022879680 | COL6A1 | c.1002+2del (n.1002+2del)
| gnomAD v3 gnomAD v4 |
21 | g.45990424T>A | CA410522771 | COL6A1 | c.1002+2T>A (n.1002+2T>A)
| dbSNP |
21 | g.45990424T>C | CA410522773 | COL6A1 | c.1002+2T>C (n.1002+2T>C)
| |
21 | g.45990424T>G | CA410522770 | COL6A1 | c.1002+2T>G (n.1002+2T>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45990424T= | CA2392434135 | COL6A1 | c.1002+2T= (n.1002+2T=)
| |
21 | g.45990425del | CA1022879682 | COL6A1 | c.1002+3del (n.1002+3del)
| gnomAD v3 gnomAD v4 |
21 | g.45990425G>T | CA2654958520 | COL6A1 | c.1002+3G>T (n.1002+3G>T)
| gnomAD v4 |
21 | g.45990428_45990605del | CA2560934595 | COL6A1 | c.1002+6_1003-168del (n.1002+6_1003-168del)
| |
21 | g.45990426A= | CA2392434137 | COL6A1 | c.1002+4A= (n.1002+4A=)
| |
21 | g.45990426A>C | CA2654958526 | COL6A1 | c.1002+4A>C (n.1002+4A>C)
| gnomAD v4 |
21 | g.45990426A>T | CA2654958524 | COL6A1 | c.1002+4A>T (n.1002+4A>T)
| gnomAD v4 |
21 | g.45990426_45990507del | CA1022879683 | COL6A1 | c.1002+4_1002+85del (n.1002+4_1002+85del)
| gnomAD v3 gnomAD v4 |
21 | g.45990426_45990510delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC | CA2392434136 | COL6A1 | c.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC (n.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC)
| |
21 | g.45990427C>A | CA2654958541 | COL6A1 | c.1002+5C>A (n.1002+5C>A)
| gnomAD v4 |
21 | g.45990427C= | CA2392434138 | COL6A1 | c.1002+5C= (n.1002+5C=)
| |
21 | g.45990427C>G | CA10069958 | COL6A1 | c.1002+5C>G (n.1002+5C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990427C>T | CA10069959 | COL6A1 | c.1002+5C>T (n.1002+5C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990427_45990428insCCC | CA1022879687 | COL6A1 | c.1002+5_1002+6insCCC (n.1002+5_1002+6insCCC)
| gnomAD v3 gnomAD v4 |
21 | g.45990427dup | CA638178880 | COL6A1 | c.1002+5dup (n.1002+5dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990427_45990428del | CA1022879689 | COL6A1 | c.1002+5_1002+6del (n.1002+5_1002+6del)
| gnomAD v3 gnomAD v4 |
21 | g.45990427_45990434delinsCTGGGGGG | CA2392434140 | COL6A1 | c.1002+5_1002+12delinsCTGGGGGG (n.1002+5_1002+12delinsCTGGGGGG)
| |
21 | g.45990427_45990445delinsCTGGGGGGAGATAGGATGG | CA2392434139 | COL6A1 | c.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG (n.1002+5_1002+23delinsCTGGGGGGAGATAGGATGG)
| |
21 | g.45990427_45990508del | CA1022879691 | COL6A1 | c.1002+5_1002+86del (n.1002+5_1002+86del)
| gnomAD v3 gnomAD v4 |
21 | g.45990428_45990511del | CA10069957 | COL6A1 | c.1002+6_1002+89del (n.1002+6_1002+89del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990427_45990428insCCGGGGAGGGA | CA916081963 | COL6A1 | c.1002+5_1002+6insCCGGGGAGGGA (n.1002+5_1002+6insCCGGGGAGGGA)
| ClinVar dbSNP |
21 | g.45990428T>A | CA1022879696 | COL6A1 | c.1002+6T>A (n.1002+6T>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990428T>C | CA321964478 | COL6A1 | c.1002+6T>C (n.1002+6T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990428T>G | CA638178882 | COL6A1 | c.1002+6T>G (n.1002+6T>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990428T= | CA2392434142 | COL6A1 | c.1002+6T= (n.1002+6T=)
| |
21 | g.45990428_45990430del | CA1022879698 | COL6A1 | c.1002+6_1002+8del (n.1002+6_1002+8del)
| gnomAD v3 gnomAD v4 |
21 | g.45990428_45990434del | CA2392434143 | COL6A1 | c.1002+6_1002+12del (n.1002+6_1002+12del)
| dbSNP gnomAD v4 |
21 | g.45990428_45990445del | CA638178881 | COL6A1 | c.1002+6_1002+23del (n.1002+6_1002+23del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990428_45990446del | CA2534802586 | COL6A1 | c.1002+6_1002+24del (n.1002+6_1002+24del)
| |
21 | g.45990433_45990471del | CA1022879697 | COL6A1 | c.1002+11_1002+49del (n.1002+11_1002+49del)
| gnomAD v3 gnomAD v4 |
21 | g.45990428_45990509del | CA2654958545 | COL6A1 | c.1002+6_1002+87del (n.1002+6_1002+87del)
| gnomAD v4 |
21 | g.45990428_45990512delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC | CA2392434141 | COL6A1 | c.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC (n.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC)
| |
21 | g.45990429G>A | CA10069960 | COL6A1 | c.1002+7G>A (n.1002+7G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990429G>C | CA638178883 | COL6A1 | c.1002+7G>C (n.1002+7G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990429G= | CA2392434144 | COL6A1 | c.1002+7G= (n.1002+7G=)
| |
21 | g.45990429G>T | CA749831352 | COL6A1 | c.1002+7G>T (n.1002+7G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990434dup | CA638178884 | COL6A1 | c.1002+12dup (n.1002+12dup)
| gnomAD v2 gnomAD v4 |
21 | g.45990434del | CA2654958568 | COL6A1 | c.1002+12del (n.1002+12del)
| gnomAD v4 |
21 | g.45990433_45990451del | CA2654958565 | COL6A1 | c.1002+11_1002+29del (n.1002+11_1002+29del)
| gnomAD v4 |
21 | g.45990429_45990511del | CA512713455 | COL6A1 | c.1002+7_1002+89del (n.1002+7_1002+89del)
| gnomAD v3 gnomAD v4 |
21 | g.45990433_45990516del | CA1022879702 | COL6A1 | c.1002+11_1002+94del (n.1002+11_1002+94del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990430G>A | CA915952722 | COL6A1 | c.1002+8G>A (n.1002+8G>A)
| ClinVar dbSNP gnomAD v4 |
21 | g.45990430G>C | CA2654958582 | COL6A1 | c.1002+8G>C (n.1002+8G>C)
| gnomAD v4 |
21 | g.45990430G= | CA2392434145 | COL6A1 | c.1002+8G= (n.1002+8G=)
| |
21 | g.45990430G>T | CA10069961 | COL6A1 | c.1002+8G>T (n.1002+8G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990430_45990510del | CA1022879705 | COL6A1 | c.1002+8_1002+88del (n.1002+8_1002+88del)
| gnomAD v3 gnomAD v4 |
21 | g.45990434_45990516del | CA1022879706 | COL6A1 | c.1002+12_1002+94del (n.1002+12_1002+94del)
| gnomAD v3 gnomAD v4 |
21 | g.45990430_45990431insCC | CA1022879709 | COL6A1 | c.1002+8_1002+9insCC (n.1002+8_1002+9insCC)
| gnomAD v3 gnomAD v4 |
21 | g.45990431G>A | CA2577628508 | COL6A1 | c.1002+9G>A (n.1002+9G>A)
| ClinVar gnomAD v4 |
21 | g.45990431G>T | CA2654958601 | COL6A1 | c.1002+9G>T (n.1002+9G>T)
| gnomAD v4 |
21 | g.45990437_45990518del | CA1022879711 | COL6A1 | c.1002+15_1002+96del (n.1002+15_1002+96del)
| gnomAD v3 gnomAD v4 |
21 | g.45990432G>A | CA1022879712 | COL6A1 | c.1002+10G>A (n.1002+10G>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990432G>T | CA2654958611 | COL6A1 | c.1002+10G>T (n.1002+10G>T)
| gnomAD v4 |
21 | g.45990432_45990433insAG | CA638178886 | COL6A1 | c.1002+10_1002+11insAG (n.1002+10_1002+11insAG)
| gnomAD v2 gnomAD v4 |
21 | g.45990434_45990441del | CA638178885 | COL6A1 | c.1002+12_1002+19del (n.1002+12_1002+19del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990433_45990491del | CA2818097520 | COL6A1 | c.1002+11_1002+69del (n.1002+11_1002+69del)
| |
21 | g.45990433G>A | CA638178887 | COL6A1 | c.1002+11G>A (n.1002+11G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990433G= | CA2392434146 | COL6A1 | c.1002+11G= (n.1002+11G=)
| |
21 | g.45990433G>T | CA2654958620 | COL6A1 | c.1002+11G>T (n.1002+11G>T)
| gnomAD v4 |
21 | g.45990433_45990438delinsGGAGAT | CA2392434147 | COL6A1 | c.1002+11_1002+16delinsGGAGAT (n.1002+11_1002+16delinsGGAGAT)
| |
21 | g.45990434G>A | CA10069962 | COL6A1 | c.1002+12G>A (n.1002+12G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990434G= | CA2392434148 | COL6A1 | c.1002+12G= (n.1002+12G=)
| |
21 | g.45990434G>T | CA1022879716 | COL6A1 | c.1002+12G>T (n.1002+12G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990434_45990438del | CA1022879717 | COL6A1 | c.1002+12_1002+16del (n.1002+12_1002+16del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990439_45990477del | CA1022879715 | COL6A1 | c.1002+17_1002+55del (n.1002+17_1002+55del)
| gnomAD v3 gnomAD v4 |
21 | g.45990435A= | CA2392434149 | COL6A1 | c.1002+13A= (n.1002+13A=)
| |
21 | g.45990435A>C | CA638178888 | COL6A1 | c.1002+13A>C (n.1002+13A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990435A>G | CA638178889 | COL6A1 | c.1002+13A>G (n.1002+13A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990435A>T | CA2573157627 | COL6A1 | c.1002+13A>T (n.1002+13A>T)
| ClinVar dbSNP gnomAD v4 |
21 | g.45990435_45990436insTGGGGTG | CA638178890 | COL6A1 | c.1002+13_1002+14insTGGGGTG (n.1002+13_1002+14insTGGGGTG)
| gnomAD v2 gnomAD v4 |
21 | g.45990436G>A | CA10069964 | COL6A1 | c.1002+14G>A (n.1002+14G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990436G= | CA2392434150 | COL6A1 | c.1002+14G= (n.1002+14G=)
| |
21 | g.45990436G>T | CA2573157628 | COL6A1 | c.1002+14G>T (n.1002+14G>T)
| ClinVar dbSNP gnomAD v4 |
21 | g.45990436_45990438dup | CA10069963 | COL6A1 | c.1002+14_1002+16dup (n.1002+14_1002+16dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990437_45990444del | CA1022879722 | COL6A1 | c.1002+15_1002+22del (n.1002+15_1002+22del)
| gnomAD v3 gnomAD v4 |
21 | g.45990436_45990511del | CA2654958656 | COL6A1 | c.1002+14_1002+89del (n.1002+14_1002+89del)
| gnomAD v4 |
21 | g.45990439_45990522del | CA1022879724 | COL6A1 | c.1002+17_1002+100del (n.1002+17_1002+100del)
| |
21 | g.45990437A= | CA2392434151 | COL6A1 | c.1002+15A= (n.1002+15A=)
| |
21 | g.45990437A>C | CA1022879727 | COL6A1 | c.1002+15A>C (n.1002+15A>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990437A>G | CA10069965 | COL6A1 | c.1002+15A>G (n.1002+15A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990437A>T | CA10069966 | COL6A1 | c.1002+15A>T (n.1002+15A>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990437_45990439del | CA2654958677 | COL6A1 | c.1002+15_1002+17del (n.1002+15_1002+17del)
| gnomAD v4 |
21 | g.45990438T>A | CA1022879729 | COL6A1 | c.1002+16T>A (n.1002+16T>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990438T>C | CA638178891 | COL6A1 | c.1002+16T>C (n.1002+16T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45990438T>G | CA638178892 | COL6A1 | c.1002+16T>G (n.1002+16T>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990438T= | CA2392434152 | COL6A1 | c.1002+16T= (n.1002+16T=)
| |
21 | g.45990439A= | CA2392434153 | COL6A1 | c.1002+17A= (n.1002+17A=)
| |
21 | g.45990439A>C | CA1022879731 | COL6A1 | c.1002+17A>C (n.1002+17A>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990439A>G | CA638178893 | COL6A1 | c.1002+17A>G (n.1002+17A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990439A>T | CA2573157629 | COL6A1 | c.1002+17A>T (n.1002+17A>T)
| ClinVar dbSNP gnomAD v4 |
21 | g.45990443_45990462dup | CA10069967 | COL6A1 | c.1002+21_1002+40dup (n.1002+21_1002+40dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990440G>A | CA2654958722 | COL6A1 | c.1002+18G>A (n.1002+18G>A)
| gnomAD v4 |
21 | g.45990440G>C | CA2654958735 | COL6A1 | c.1002+18G>C (n.1002+18G>C)
| gnomAD v4 |
21 | g.45990440G>T | CA2654958724 | COL6A1 | c.1002+18G>T (n.1002+18G>T)
| gnomAD v4 |
21 | g.45990440_45990441insTGTGAAGGTGACCAGGG | CA638178897 | COL6A1 | c.1002+18_1002+19insTGTGAAGGTGACCAGGG (n.1002+18_1002+19insTGTGAAGGTGACCAGGG)
| gnomAD v2 gnomAD v4 |
21 | g.45990443_45990452dup | CA638178894 | COL6A1 | c.1002+21_1002+30dup (n.1002+21_1002+30dup)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG | CA638178896 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG | CA638178895 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG | CA2654958740 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990443_45990482del | CA2654958736 | COL6A1 | c.1002+21_1002+60del (n.1002+21_1002+60del)
| gnomAD v4 |
21 | g.45990443_45990552del | CA1022879733 | COL6A1 | c.1002+21_1002+130del (n.1002+21_1002+130del)
| gnomAD v3 gnomAD v4 |
21 | g.45990441G>A | CA2654958754 | COL6A1 | c.1002+19G>A (n.1002+19G>A)
| gnomAD v4 |
21 | g.45990441G>T | CA1022879736 | COL6A1 | c.1002+19G>T (n.1002+19G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990441_45990442insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG | CA1139635884 | COL6A1 | c.1002+19_1002+20insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG (n.1002+19_1002+20insGGGACGGGGATGATGGGGTGGACAGCGTGAAAGGGACCGGGGTTAGTGTGGTGGACAGTGTGAAAGGTGACCGGGAAGGACTGGGAGGGAAACGGGGAGGGATGGGTGCGATAGGGGAGGGACGAGTGGACGGCGTGAATGTGACCCAGAGGGGAAGGGATGGGGTGGACAGTTGAAGTGACCAAGGGGAAGGACGGGGAGGGACG)
| |
21 | g.45990442A= | CA2392434154 | COL6A1 | c.1002+20A= (n.1002+20A=)
| |
21 | g.45990442A>C | CA2654958759 | COL6A1 | c.1002+20A>C (n.1002+20A>C)
| ClinVar gnomAD v4 |
21 | g.45990442A>G | CA638178898 | COL6A1 | c.1002+20A>G (n.1002+20A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990442A>T | CA2392434155 | COL6A1 | c.1002+20A>T (n.1002+20A>T)
| dbSNP gnomAD v4 |
21 | g.45990442_45990443insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG | CA2654958818 | COL6A1 | c.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG (n.1002+20_1002+21insGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGG)
| gnomAD v4 |
21 | g.45990443T>A | CA321964505 | COL6A1 | c.1002+21T>A (n.1002+21T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990443T>C | CA1022879739 | COL6A1 | c.1002+21T>C (n.1002+21T>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990443T>G | CA749831389 | COL6A1 | c.1002+21T>G (n.1002+21T>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990443T= | CA2392434156 | COL6A1 | c.1002+21T= (n.1002+21T=)
| |
21 | g.45990443_45990448del | CA2654958803 | COL6A1 | c.1002+21_1002+26del (n.1002+21_1002+26del)
| gnomAD v4 |
21 | g.45990464_45990465insGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA1022879740 | COL6A1 | c.1002+42_1002+43insGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGGGGTTGGGGTGGACGGGGAGGGACGAGGAGG | CA2654958874 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGGGGTTGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGGGGTTGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTTAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA2654958881 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTTAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTTAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACGGGGAGGGACGAGGAGG | CA2654958879 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCTGGAAGGTGACCGGGGAGGGAGGGGGTGGACGGGGAGGGACGAGGAGG | CA2818097544 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCTGGAAGGTGACCGGGGAGGGAGGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCTGGAAGGTGACCGGGGAGGGAGGGGGTGGACGGGGAGGGACGAGGAGG)
| |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGCGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA1022879742 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGCGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGCGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA10069968 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGGTGGGGTGGACGGGGAGGGACGAGGAGG | CA2654958814 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGGTGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGGTGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA2654958880 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCGCGGAGGGAATGGGTGGACGGGGAGGGACGAGGAGG | CA2654958875 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCGCGGAGGGAATGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCGCGGAGGGAATGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGTACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA2654958797 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGTACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGTACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGATGGGGTGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA2654958800 | COL6A1 | c.1002+42_1002+43insGATGGGGTGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGATGGGGTGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGCTGGGGTGGACAGCGTGACGGTGACCGGGGAGGGATGTGGTGGACGGGGAGGGACGAGGAGG | CA2654958798 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGCTGGGGTGGACAGCGTGACGGTGACCGGGGAGGGATGTGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGCTGGGGTGGACAGCGTGACGGTGACCGGGGAGGGATGTGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA638178900 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| dbSNP gnomAD v2 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA10069969 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA2654958877 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA1022879741 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA1022879743 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCAGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA2654958882 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCAGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCAGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA2818097546 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG | CA638178899 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990450_45990498del | CA2654958806 | COL6A1 | c.1002+28_1002+76del (n.1002+28_1002+76del)
| gnomAD v4 |
21 | g.45990448_45990531dup | CA2654958824 | COL6A1 | c.1002+26_1002+109dup (n.1002+26_1002+109dup)
| gnomAD v4 |
21 | g.45990443_45990563delinsTGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG | CA2392434157 | COL6A1 | c.1002+21_1002+141delinsTGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG (n.1002+21_1002+141delinsTGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG)
| |
21 | g.45990444G= | CA2392434158 | COL6A1 | c.1002+22G= (n.1002+22G=)
| |
21 | g.45990444G>T | CA749831419 | COL6A1 | c.1002+22G>T (n.1002+22G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990446_45990449del | CA2654958917 | COL6A1 | c.1002+24_1002+27del (n.1002+24_1002+27del)
| gnomAD v4 |
21 | g.45990449_45990458dup | CA2392434159 | COL6A1 | c.1002+27_1002+36dup (n.1002+27_1002+36dup)
| dbSNP |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA638178901 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA2654958948 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACGGGGAGGGACGAGGAGG | CA1022879762 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA2654958920 | COL6A1 | c.1002+42_1002+43insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA1022879760 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA1022879758 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA638178903 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA638178902 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA2654958956 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGAGGAGG | CA1022879755 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA1022879747 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA1022879764 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA638178904 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGAGGAGG | CA2654958941 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA1022879752 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA1022879765 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA2654958923 | COL6A1 | c.1002+42_1002+43insGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA2654958927 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA638178905 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA2654958955 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA1022879753 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA1022879763 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGATGGGGCGAGATGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA1022879750 | COL6A1 | c.1002+42_1002+43insGATGGGGCGAGATGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGATGGGGCGAGATGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG | CA2654958954 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990445_45990464dup | CA10069970 | COL6A1 | c.1002+23_1002+42dup (n.1002+23_1002+42dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990450_45990489del | CA2654958915 | COL6A1 | c.1002+28_1002+67del (n.1002+28_1002+67del)
| gnomAD v4 |
21 | g.45990447_45990521del | CA2654958913 | COL6A1 | c.1002+25_1002+99del (n.1002+25_1002+99del)
| gnomAD v4 |
21 | g.45990459_45990568del | CA1022879749 | COL6A1 | c.1002+37_1002+146del (n.1002+37_1002+146del)
| gnomAD v3 gnomAD v4 |
21 | g.45990457_45990576del | CA1022879748 | COL6A1 | c.1002+35_1002+154del (n.1002+35_1002+154del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990445G>A | CA2654958968 | COL6A1 | c.1002+23G>A (n.1002+23G>A)
| gnomAD v4 |
21 | g.45990445G>C | CA2567856375 | COL6A1 | c.1002+23G>C (n.1002+23G>C)
| gnomAD v4 |
21 | g.45990445G>T | CA1022879769 | COL6A1 | c.1002+23G>T (n.1002+23G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990447_45990476del | CA2654958966 | COL6A1 | c.1002+25_1002+54del (n.1002+25_1002+54del)
| gnomAD v4 |
21 | g.45990446del | CA2654958972 | COL6A1 | c.1002+24del (n.1002+24del)
| gnomAD v4 |
21 | g.45990446A= | CA2392434160 | COL6A1 | c.1002+24A= (n.1002+24A=)
| |
21 | g.45990446A>C | CA638178906 | COL6A1 | c.1002+24A>C (n.1002+24A>C)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990446A>G | CA10069971 | COL6A1 | c.1002+24A>G (n.1002+24A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990446A>T | CA2654958985 | COL6A1 | c.1002+24A>T (n.1002+24A>T)
| dbSNP gnomAD v4 |
21 | g.45990446_45990447del | CA2654958977 | COL6A1 | c.1002+24_1002+25del (n.1002+24_1002+25del)
| gnomAD v4 |
21 | g.45990447_45990466del | CA2654958983 | COL6A1 | c.1002+25_1002+44del (n.1002+25_1002+44del)
| gnomAD v4 |
21 | g.45990447C>A | CA1022879773 | COL6A1 | c.1002+25C>A (n.1002+25C>A)
| dbSNP gnomAD v4 |
21 | g.45990447C= | CA2392434161 | COL6A1 | c.1002+25C= (n.1002+25C=)
| |
21 | g.45990447C>G | CA10069972 | COL6A1 | c.1002+25C>G (n.1002+25C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990447C>T | CA10069973 | COL6A1 | c.1002+25C>T (n.1002+25C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990447_45990477delinsCGGGGAGGGACGAGGAGGAATGGGGCGAGAT | CA2392434162 | COL6A1 | c.1002+25_1002+55delinsCGGGGAGGGACGAGGAGGAATGGGGCGAGAT (n.1002+25_1002+55delinsCGGGGAGGGACGAGGAGGAATGGGGCGAGAT)
| |
21 | g.45990457_45990521del | CA638178907 | COL6A1 | c.1002+35_1002+99del (n.1002+35_1002+99del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990447_45990448insAGTGTGAAGGTGACCA | CA638178908 | COL6A1 | c.1002+25_1002+26insAGTGTGAAGGTGACCA (n.1002+25_1002+26insAGTGTGAAGGTGACCA)
| gnomAD v2 gnomAD v4 |
21 | g.45990448G>A | CA10069975 | COL6A1 | c.1002+26G>A (n.1002+26G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990448G>C | CA1022879779 | COL6A1 | c.1002+26G>C (n.1002+26G>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990448G= | CA2392434163 | COL6A1 | c.1002+26G= (n.1002+26G=)
| |
21 | g.45990448G>T | CA1022879778 | COL6A1 | c.1002+26G>T (n.1002+26G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990451del | CA2654958995 | COL6A1 | c.1002+29del (n.1002+29del)
| gnomAD v4 |
21 | g.45990459_45990488del | CA1022879777 | COL6A1 | c.1002+37_1002+66del (n.1002+37_1002+66del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990448_45990489del | CA2654958997 | COL6A1 | c.1002+26_1002+67del (n.1002+26_1002+67del)
| gnomAD v4 |
21 | g.45990453_45990552del | CA1022879780 | COL6A1 | c.1002+31_1002+130del (n.1002+31_1002+130del)
| gnomAD v3 gnomAD v4 |
21 | g.45990449G>A | CA10069978 | COL6A1 | c.1002+27G>A (n.1002+27G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990449G>C | CA10069977 | COL6A1 | c.1002+27G>C (n.1002+27G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990449G= | CA2392434164 | COL6A1 | c.1002+27G= (n.1002+27G=)
| |
21 | g.45990449G>T | CA1022879783 | COL6A1 | c.1002+27G>T (n.1002+27G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACAGGGAGGGACGAGGAGG | CA1022879782 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACAGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACAGGGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACAGGGAGGGACGAGGAGG | CA10069976 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACAGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACAGGGAGGGACGAGGAGG)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACAAGGGGAAGGACAGGGAGGGACGAGGAGG | CA2654959017 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACAAGGGGAAGGACAGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACAAGGGGAAGGACAGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGACGGACAGGGAGGGACGAGGAGG | CA2818097583 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGACGGACAGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGACGGACAGGGAGGGACGAGGAGG)
| |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGAGGAGG | CA10069974 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGAGGAGG)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGAGGAGG | CA2654959015 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACAGGGAGGGACGAGGAGG | CA2818097581 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACAGGGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACAGGGAGGGACGAGGAGG)
| |
21 | g.45990450_45990491del | CA2654959014 | COL6A1 | c.1002+28_1002+69del (n.1002+28_1002+69del)
| gnomAD v4 |
21 | g.45990450G>A | CA10069979 | COL6A1 | c.1002+28G>A (n.1002+28G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990450G>C | CA2654959024 | COL6A1 | c.1002+28G>C (n.1002+28G>C)
| gnomAD v4 |
21 | g.45990450G= | CA2392434165 | COL6A1 | c.1002+28G= (n.1002+28G=)
| |
21 | g.45990450G>T | CA512713491 | COL6A1 | c.1002+28G>T (n.1002+28G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990455_45990464dup | CA2654959027 | COL6A1 | c.1002+33_1002+42dup (n.1002+33_1002+42dup)
| gnomAD v4 |
21 | g.45990455_45990464del | CA2654959025 | COL6A1 | c.1002+33_1002+42del (n.1002+33_1002+42del)
| gnomAD v4 |
21 | g.45990458_45990605del | CA2654959029 | COL6A1 | c.1002+36_1003-168del (n.1002+36_1003-168del)
| gnomAD v4 |
21 | g.45990451G>A | CA2654959034 | COL6A1 | c.1002+29G>A (n.1002+29G>A)
| gnomAD v4 |
21 | g.45990451G= | CA2392434166 | COL6A1 | c.1002+29G= (n.1002+29G=)
| |
21 | g.45990451G>T | CA321964532 | COL6A1 | c.1002+29G>T (n.1002+29G>T)
| dbSNP gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAGAGGGACGAGGAGG | CA1022879786 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAGAGGGACGAGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGTGAGGGACGAGGAGG | CA638178909 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGTGAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGTGAGGGACGAGGAGG)
| gnomAD v2 |
21 | g.45990452del | CA2591412610 | COL6A1 | c.1002+30del (n.1002+30del)
| gnomAD v3 gnomAD v4 |
21 | g.45990452A= | CA2392434167 | COL6A1 | c.1002+30A= (n.1002+30A=)
| |
21 | g.45990452A>C | CA1022879788 | COL6A1 | c.1002+30A>C (n.1002+30A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990452A>G | CA638178910 | COL6A1 | c.1002+30A>G (n.1002+30A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990452A>T | CA1022879789 | COL6A1 | c.1002+30A>T (n.1002+30A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGACGAGGAGG | CA2654959044 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGACGAGGAGG | CA2654959045 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGACGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGACGAGGAGG)
| gnomAD v4 |
21 | g.45990452_45990466del | CA2654959041 | COL6A1 | c.1002+30_1002+44del (n.1002+30_1002+44del)
| gnomAD v4 |
21 | g.45990453G>A | CA10069981 | COL6A1 | c.1002+31G>A (n.1002+31G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990453G= | CA2392434168 | COL6A1 | c.1002+31G= (n.1002+31G=)
| |
21 | g.45990453G>T | CA10069980 | COL6A1 | c.1002+31G>T (n.1002+31G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990455del | CA2654959049 | COL6A1 | c.1002+33del (n.1002+33del)
| gnomAD v4 |
21 | g.45990456_45990470del | CA1022879792 | COL6A1 | c.1002+34_1002+48del (n.1002+34_1002+48del)
| gnomAD v3 gnomAD v4 |
21 | g.45990453_45990511del | CA2654959051 | COL6A1 | c.1002+31_1002+89del (n.1002+31_1002+89del)
| gnomAD v4 |
21 | g.45990453_45990553delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA | CA2392434169 | COL6A1 | c.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA (n.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA)
| |
21 | g.45990454G>A | CA10069982 | COL6A1 | c.1002+32G>A (n.1002+32G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990454G= | CA2392434170 | COL6A1 | c.1002+32G= (n.1002+32G=)
| |
21 | g.45990454G>T | CA2654959062 | COL6A1 | c.1002+32G>T (n.1002+32G>T)
| gnomAD v4 |
21 | g.45990458_45990531del | CA2654959060 | COL6A1 | c.1002+36_1002+109del (n.1002+36_1002+109del)
| gnomAD v4 |
21 | g.45990459_45990558del | CA1022879794 | COL6A1 | c.1002+37_1002+136del (n.1002+37_1002+136del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990455G>A | CA1022879796 | COL6A1 | c.1002+33G>A (n.1002+33G>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990455G>C | CA638178911 | COL6A1 | c.1002+33G>C (n.1002+33G>C)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45990455G= | CA2392434173 | COL6A1 | c.1002+33G= (n.1002+33G=)
| |
21 | g.45990455G>T | CA1022879797 | COL6A1 | c.1002+33G>T (n.1002+33G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990455_45990459delinsGACGA | CA2392434172 | COL6A1 | c.1002+33_1002+37delinsGACGA (n.1002+33_1002+37delinsGACGA)
| |
21 | g.45990457_45990459del | CA1022879795 | COL6A1 | c.1002+35_1002+37del (n.1002+35_1002+37del)
| gnomAD v3 gnomAD v4 |
21 | g.45990455_45990465delinsGACGAGGAGGA | CA2392434171 | COL6A1 | c.1002+33_1002+43delinsGACGAGGAGGA (n.1002+33_1002+43delinsGACGAGGAGGA)
| |
21 | g.45990457_45990476del | CA2654959071 | COL6A1 | c.1002+35_1002+54del (n.1002+35_1002+54del)
| gnomAD v4 |
21 | g.45990456A>C | CA2654959083 | COL6A1 | c.1002+34A>C (n.1002+34A>C)
| dbSNP gnomAD v4 |
21 | g.45990456A>G | CA1022879800 | COL6A1 | c.1002+34A>G (n.1002+34A>G)
| gnomAD v3 gnomAD v4 |
21 | g.45990456A>T | CA1022879801 | COL6A1 | c.1002+34A>T (n.1002+34A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990456_45990457del | CA2654959080 | COL6A1 | c.1002+34_1002+35del (n.1002+34_1002+35del)
| gnomAD v4 |
21 | g.45990456_45990459del | CA10069984 | COL6A1 | c.1002+34_1002+37del (n.1002+34_1002+37del)
| dbSNP ExAC |
21 | g.45990457_45990466del | CA10069983 | COL6A1 | c.1002+35_1002+44del (n.1002+35_1002+44del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990456_45990490del | CA2654959082 | COL6A1 | c.1002+34_1002+68del (n.1002+34_1002+68del)
| gnomAD v4 |
21 | g.45990456_45990511delinsACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC | CA2392434174 | COL6A1 | c.1002+34_1002+89delinsACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+34_1002+89delinsACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)
| |
21 | g.45990456_45990457insGGGGG | CA2818097591 | COL6A1 | c.1002+34_1002+35insGGGGG (n.1002+34_1002+35insGGGGG)
| |
21 | g.45990456_45990457insGGGGGTGAGGAGATCC | CA2818097590 | COL6A1 | c.1002+34_1002+35insGGGGGTGAGGAGATCC (n.1002+34_1002+35insGGGGGTGAGGAGATCC)
| |
21 | g.45990456_45990457insTGGGGTGAGGTGATCC | CA2654959095 | COL6A1 | c.1002+34_1002+35insTGGGGTGAGGTGATCC (n.1002+34_1002+35insTGGGGTGAGGTGATCC)
| gnomAD v4 |
21 | g.45990456_45990457insTGGGGTGAGGTGATGC | CA2558598366 | COL6A1 | c.1002+34_1002+35insTGGGGTGAGGTGATGC (n.1002+34_1002+35insTGGGGTGAGGTGATGC)
| |
21 | g.45990457del | CA2654959094 | COL6A1 | c.1002+35del (n.1002+35del)
| gnomAD v4 |
21 | g.45990457C>A | CA638178913 | COL6A1 | c.1002+35C>A (n.1002+35C>A)
| gnomAD v2 gnomAD v4 |
21 | g.45990457C= | CA2392434176 | COL6A1 | c.1002+35C= (n.1002+35C=)
| |
21 | g.45990457C>G | CA10069987 | COL6A1 | c.1002+35C>G (n.1002+35C>G)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
21 | g.45990457C>T | CA10069988 | COL6A1 | c.1002+35C>T (n.1002+35C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGCCGAGGAGG | CA2654959097 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGCCGAGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGCCGAGGAGG)
| gnomAD v4 |
21 | g.45990457_45990467del | CA2654959093 | COL6A1 | c.1002+35_1002+45del (n.1002+35_1002+45del)
| gnomAD v4 |
21 | g.45990457_45990473del | CA638178912 | COL6A1 | c.1002+35_1002+51del (n.1002+35_1002+51del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990457_45990477del | CA2654959091 | COL6A1 | c.1002+35_1002+55del (n.1002+35_1002+55del)
| gnomAD v4 |
21 | g.45990457_45990477delinsCGAGGAGGAATGGGGCGAGAT | CA2392434175 | COL6A1 | c.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGAT (n.1002+35_1002+55delinsCGAGGAGGAATGGGGCGAGAT)
| |
21 | g.45990459_45990513del | CA10069985 | COL6A1 | c.1002+37_1002+91del (n.1002+37_1002+91del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990457_45990458insAAG | CA1022879813 | COL6A1 | c.1002+35_1002+36insAAG (n.1002+35_1002+36insAAG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990458del | CA2591412617 | COL6A1 | c.1002+36del (n.1002+36del)
| gnomAD v3 gnomAD v4 |
21 | g.45990458G>A | CA10069989 | COL6A1 | c.1002+36G>A (n.1002+36G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990458G>C | CA1022879812 | COL6A1 | c.1002+36G>C (n.1002+36G>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990458G= | CA2392434177 | COL6A1 | c.1002+36G= (n.1002+36G=)
| |
21 | g.45990458G>T | CA10069990 | COL6A1 | c.1002+36G>T (n.1002+36G>T)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
21 | g.45990458_45990459insGGG | CA638178915 | COL6A1 | c.1002+36_1002+37insGGG (n.1002+36_1002+37insGGG)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45990458_45990464del | CA638178914 | COL6A1 | c.1002+36_1002+42del (n.1002+36_1002+42del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990459_45990471del | CA1022879816 | COL6A1 | c.1002+37_1002+49del (n.1002+37_1002+49del)
| gnomAD v3 gnomAD v4 |
21 | g.45990459_45990478del | CA10069986 | COL6A1 | c.1002+37_1002+56del (n.1002+37_1002+56del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990458_45990485del | CA2654959106 | COL6A1 | c.1002+36_1002+63del (n.1002+36_1002+63del)
| gnomAD v4 |
21 | g.45990459_45990523del | CA2654959102 | COL6A1 | c.1002+37_1002+101del (n.1002+37_1002+101del)
| gnomAD v4 |
21 | g.45990459_45990578del | CA1022879814 | COL6A1 | c.1002+37_1002+156del (n.1002+37_1002+156del)
| gnomAD v3 gnomAD v4 |
21 | g.45990458_45990595del | CA2546751618 | COL6A1 | c.1002+36_1002+173del (n.1002+36_1002+173del)
| gnomAD v4 |
21 | g.45990458_45990459insGC | CA2512297386 | COL6A1 | c.1002+36_1002+37insGC (n.1002+36_1002+37insGC)
| gnomAD v4 |
21 | g.45990459del | CA2577628509 | COL6A1 | c.1002+37del (n.1002+37del)
| gnomAD v4 |
21 | g.45990459A= | CA2392434182 | COL6A1 | c.1002+37A= (n.1002+37A=)
| |
21 | g.45990459A>C | CA1022879823 | COL6A1 | c.1002+37A>C (n.1002+37A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990459A>G | CA147299 | COL6A1 | c.1002+37A>G (n.1002+37A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990459A>T | CA2591412619 | COL6A1 | c.1002+37A>T (n.1002+37A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990459_45990466del | CA1022879820 | COL6A1 | c.1002+37_1002+44del (n.1002+37_1002+44del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990460_45990466del | CA2654959114 | COL6A1 | c.1002+38_1002+44del (n.1002+38_1002+44del)
| gnomAD v4 |
21 | g.45990459_45990469delinsAGGAGGAATGG | CA2392434180 | COL6A1 | c.1002+37_1002+47delinsAGGAGGAATGG (n.1002+37_1002+47delinsAGGAGGAATGG)
| |
21 | g.45990459_45990479delinsAGGAGGAATGGGGCGAGATGG | CA2392434181 | COL6A1 | c.1002+37_1002+57delinsAGGAGGAATGGGGCGAGATGG (n.1002+37_1002+57delinsAGGAGGAATGGGGCGAGATGG)
| |
21 | g.45990459_45990559delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG | CA2392434179 | COL6A1 | c.1002+37_1002+137delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG (n.1002+37_1002+137delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG)
| |
21 | g.45990459_45990569delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG | CA2392434178 | COL6A1 | c.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG (n.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG)
| |
21 | g.45990465_45990602del | CA1022879821 | COL6A1 | c.1002+43_1003-171del (n.1002+43_1003-171del)
| gnomAD v3 gnomAD v4 |
21 | g.45990460G>A | CA2654959124 | COL6A1 | c.1002+38G>A (n.1002+38G>A)
| gnomAD v4 |
21 | g.45990460G= | CA2392434183 | COL6A1 | c.1002+38G= (n.1002+38G=)
| |
21 | g.45990460G>T | CA10069994 | COL6A1 | c.1002+38G>T (n.1002+38G>T)
| dbSNP ExAC gnomAD v4 |
21 | g.45990461_45990462insGACGGGG | CA638178916 | COL6A1 | c.1002+39_1002+40insGACGGGG (n.1002+39_1002+40insGACGGGG)
| gnomAD v2 gnomAD v4 |
21 | g.45990461_45990462insGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGG | CA1139596666 | COL6A1 | c.1002+39_1002+40insGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGG (n.1002+39_1002+40insGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGG)
| |
21 | g.45990461del | CA2654959140 | COL6A1 | c.1002+39del (n.1002+39del)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGG | CA2392434184 | COL6A1 | c.1002+42_1002+43insGACGGGGAGG (n.1002+42_1002+43insGACGGGGAGG)
| dbSNP gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGAGG | CA2654959142 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG | CA147300 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG)
| ClinVar dbSNP |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG | CA2654959147 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG | CA2654959143 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGCGGAGG | CA2654959146 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGCGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGCGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGGGGAGG | CA10069992 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGGGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGGGGAGG)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG | CA1022879838 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG | CA2654959148 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG | CA2818092857 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG)
| |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG | CA2654959144 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG | CA2818092856 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG)
| |
21 | g.45990461_45990464del | CA2654959132 | COL6A1 | c.1002+39_1002+42del (n.1002+39_1002+42del)
| gnomAD v4 |
21 | g.45990462_45990471del | CA1022879835 | COL6A1 | c.1002+40_1002+49del (n.1002+40_1002+49del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990461_45990471del | CA2591412621 | COL6A1 | c.1002+39_1002+49del (n.1002+39_1002+49del)
| gnomAD v3 gnomAD v4 |
21 | g.45990461_45990481del | CA2818092855 | COL6A1 | c.1002+39_1002+59del (n.1002+39_1002+59del)
| |
21 | g.45990465_45990484del | CA10069991 | COL6A1 | c.1002+43_1002+62del (n.1002+43_1002+62del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990465_45990519del | CA2654959128 | COL6A1 | c.1002+43_1002+97del (n.1002+43_1002+97del)
| gnomAD v4 |
21 | g.45990546_45990547insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC | CA1022879829 | COL6A1 | c.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v3 gnomAD v4 |
21 | g.45990463_45990552del | CA2654959135 | COL6A1 | c.1002+41_1002+130del (n.1002+41_1002+130del)
| gnomAD v4 |
21 | g.45990465_45990564del | CA10069993 | COL6A1 | c.1002+43_1002+142del (n.1002+43_1002+142del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990465_45990574del | CA1022879833 | COL6A1 | c.1002+43_1002+152del (n.1002+43_1002+152del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990461G>A | CA2654959154 | COL6A1 | c.1002+39G>A (n.1002+39G>A)
| gnomAD v4 |
21 | g.45990461G= | CA2392434187 | COL6A1 | c.1002+39G= (n.1002+39G=)
| |
21 | g.45990461G>T | CA2654959155 | COL6A1 | c.1002+39G>T (n.1002+39G>T)
| gnomAD v4 |
21 | g.45990461_45990465delinsGAGGA | CA2392434185 | COL6A1 | c.1002+39_1002+43delinsGAGGA (n.1002+39_1002+43delinsGAGGA)
| |
21 | g.45990461_45990466del | CA2654959153 | COL6A1 | c.1002+39_1002+44del (n.1002+39_1002+44del)
| gnomAD v4 |
21 | g.45990461_45990467delinsGAGGAAT | CA2392434186 | COL6A1 | c.1002+39_1002+45delinsGAGGAAT (n.1002+39_1002+45delinsGAGGAAT)
| |
21 | g.45990461_45990462insC | CA2577628510 | COL6A1 | c.1002+39_1002+40insC (n.1002+39_1002+40insC)
| |
21 | g.45990461_45990462insTGATCCCGGC | CA2654959167 | COL6A1 | c.1002+39_1002+40insTGATCCCGGC (n.1002+39_1002+40insTGATCCCGGC)
| gnomAD v4 |
21 | g.45990461_45990462insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA | CA638178917 | COL6A1 | c.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA (n.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45990461_45990462insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA | CA1022879850 | COL6A1 | c.1002+39_1002+40insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA (n.1002+39_1002+40insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA)
| gnomAD v3 gnomAD v4 |
21 | g.45990461_45990462insGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA | CA2654959168 | COL6A1 | c.1002+39_1002+40insGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA (n.1002+39_1002+40insGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA)
| gnomAD v4 |
21 | g.45990461_45990462insGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA | CA2654959169 | COL6A1 | c.1002+39_1002+40insGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA (n.1002+39_1002+40insGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA)
| gnomAD v4 |
21 | g.45990462A= | CA2392434189 | COL6A1 | c.1002+40A= (n.1002+40A=)
| |
21 | g.45990462A>C | CA2654959159 | COL6A1 | c.1002+40A>C (n.1002+40A>C)
| gnomAD v4 |
21 | g.45990462A>G | CA1022879849 | COL6A1 | c.1002+40A>G (n.1002+40A>G)
| gnomAD v3 gnomAD v4 |
21 | g.45990462A>T | CA1022879846 | COL6A1 | c.1002+40A>T (n.1002+40A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990462dup | CA2654959170 | COL6A1 | c.1002+40dup (n.1002+40dup)
| gnomAD v4 |
21 | g.45990462_45990466del | CA2543809948 | COL6A1 | c.1002+40_1002+44del (n.1002+40_1002+44del)
| gnomAD v4 |
21 | g.45990463_45990466del | CA10069995 | COL6A1 | c.1002+41_1002+44del (n.1002+41_1002+44del)
| dbSNP ExAC gnomAD v4 |
21 | g.45990462_45990467del | CA10069996 | COL6A1 | c.1002+40_1002+45del (n.1002+40_1002+45del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990462_45990467delinsAGGAAT | CA2392434188 | COL6A1 | c.1002+40_1002+45delinsAGGAAT (n.1002+40_1002+45delinsAGGAAT)
| |
21 | g.45990462_45990477del | CA2654959163 | COL6A1 | c.1002+40_1002+55del (n.1002+40_1002+55del)
| gnomAD v4 |
21 | g.45990462_45990490del | CA2654959161 | COL6A1 | c.1002+40_1002+68del (n.1002+40_1002+68del)
| gnomAD v4 |
21 | g.45990462_45990463insC | CA2654959193 | COL6A1 | c.1002+40_1002+41insC (n.1002+40_1002+41insC)
| gnomAD v4 |
21 | g.45990463G>A | CA638178918 | COL6A1 | c.1002+41G>A (n.1002+41G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990463G>C | CA2654959179 | COL6A1 | c.1002+41G>C (n.1002+41G>C)
| gnomAD v4 |
21 | g.45990463G= | CA2392434191 | COL6A1 | c.1002+41G= (n.1002+41G=)
| |
21 | g.45990463G>T | CA1022879867 | COL6A1 | c.1002+41G>T (n.1002+41G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGCCGGGG | CA2591412625 | COL6A1 | c.1002+42_1002+43insGCCGGGG (n.1002+42_1002+43insGCCGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGGCGGGG | CA1022879860 | COL6A1 | c.1002+42_1002+43insGGCGGGG (n.1002+42_1002+43insGGCGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGTCGGGG | CA1022879862 | COL6A1 | c.1002+42_1002+43insGTCGGGG (n.1002+42_1002+43insGTCGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGCCGGGGCGGGCTGGGGTGG | CA2654959191 | COL6A1 | c.1002+42_1002+43insGCCGGGGCGGGCTGGGGTGG (n.1002+42_1002+43insGCCGGGGCGGGCTGGGGTGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTTGG | CA2654959203 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTTGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTTGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGGAGGTGAGCAGGGG | CA2654959201 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGGAGGTGAGCAGGGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGGAGGTGAGCAGGGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGGGTGAAGGGGACCAGGGGGAGGGCGGGGAGGGGGGGGGGGGG | CA2654959195 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGGGTGAAGGGGACCAGGGGGAGGGCGGGGAGGGGGGGGGGGGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGGGTGAAGGGGACCAGGGGGAGGGCGGGGAGGGGGGGGGGGGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022879858 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654959196 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA2654959199 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG | CA2818092864 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG)
| |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGGGGGACGGGGAGGG | CA2818092867 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGGGGGACGGGGAGGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGGGGGACGGGGAGGG)
| |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG | CA2654959198 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2591412627 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGAAGGGTCAGGACTGGGAGGGACGGGGAGGG | CA2654959200 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGAAGGGTCAGGACTGGGAGGGACGGGGAGGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGAAGGGTCAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGAACACTGTGAAGGTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG | CA2654959194 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGAACACTGTGAAGGTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGAACACTGTGAAGGTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990464dup | CA10069997 | COL6A1 | c.1002+42dup (n.1002+42dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990463_45990466delinsGGAA | CA2392434190 | COL6A1 | c.1002+41_1002+44delinsGGAA (n.1002+41_1002+44delinsGGAA)
| |
21 | g.45990465_45990469del | CA10069998 | COL6A1 | c.1002+43_1002+47del (n.1002+43_1002+47del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990465_45990470del | CA2654959188 | COL6A1 | c.1002+43_1002+48del (n.1002+43_1002+48del)
| gnomAD v4 |
21 | g.45990464_45990473del | CA1022879865 | COL6A1 | c.1002+42_1002+51del (n.1002+42_1002+51del)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990480del | CA2654959186 | COL6A1 | c.1002+43_1002+58del (n.1002+43_1002+58del)
| gnomAD v4 |
21 | g.45990464_45990500del | CA2654959184 | COL6A1 | c.1002+42_1002+78del (n.1002+42_1002+78del)
| gnomAD v4 |
21 | g.45990466_45990562del | CA2654959182 | COL6A1 | c.1002+44_1002+140del (n.1002+44_1002+140del)
| gnomAD v4 |
21 | g.45990464G>C | CA749831482 | COL6A1 | c.1002+42G>C (n.1002+42G>C)
| dbSNP |
21 | g.45990464G= | CA2392434193 | COL6A1 | c.1002+42G= (n.1002+42G=)
| |
21 | g.45990464G>T | CA2654959210 | COL6A1 | c.1002+42G>T (n.1002+42G>T)
| gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGTGTG | CA1022879871 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTG)
| gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGATGGGGTGGACAGCGTG | CA1022879870 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTG (n.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGACGGGGAGGGAGGGGGTGGACAGTGTG | CA2654959217 | COL6A1 | c.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACAGTGTG (n.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACAGTGTG)
| gnomAD v4 |
21 | g.45990464_45990465delinsGA | CA2392434194 | COL6A1 | c.1002+42_1002+43delinsGA (n.1002+42_1002+43delinsGA)
| |
21 | g.45990464_45990466del | CA10069999 | COL6A1 | c.1002+42_1002+44del (n.1002+42_1002+44del)
| dbSNP ExAC gnomAD v4 |
21 | g.45990464_45990466delinsGAA | CA2392434196 | COL6A1 | c.1002+42_1002+44delinsGAA (n.1002+42_1002+44delinsGAA)
| |
21 | g.45990464_45990472delinsGAATGGGGC | CA2392434195 | COL6A1 | c.1002+42_1002+50delinsGAATGGGGC (n.1002+42_1002+50delinsGAATGGGGC)
| |
21 | g.45990464_45990474delinsGAATGGGGCGA | CA2392434192 | COL6A1 | c.1002+42_1002+52delinsGAATGGGGCGA (n.1002+42_1002+52delinsGAATGGGGCGA)
| |
21 | g.45990465_45990493del | CA2654959213 | COL6A1 | c.1002+43_1002+71del (n.1002+43_1002+71del)
| gnomAD v4 |
21 | g.45990464_45990503delinsGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGA | CA2392434197 | COL6A1 | c.1002+42_1002+81delinsGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGA (n.1002+42_1002+81delinsGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGA)
| |
21 | g.45990465_45990528del | CA2654959212 | COL6A1 | c.1002+43_1002+106del (n.1002+43_1002+106del)
| gnomAD v4 |
21 | g.45990465_45990554del | CA638178919 | COL6A1 | c.1002+43_1002+132del (n.1002+43_1002+132del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990464_45990465insGAC | CA1022879892 | COL6A1 | c.1002+42_1002+43insGAC (n.1002+42_1002+43insGAC)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465A= | CA2392434198 | COL6A1 | c.1002+43A= (n.1002+43A=)
| |
21 | g.45990465A>C | CA2580670430 | COL6A1 | c.1002+43A>C (n.1002+43A>C)
| gnomAD v4 |
21 | g.45990465A>G | CA147301 | COL6A1 | c.1002+43A>G (n.1002+43A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990465A>T | CA1022879881 | COL6A1 | c.1002+43A>T (n.1002+43A>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465delinsGACGGGGAGGG | CA920321037 | COL6A1 | c.1002+43delinsGACGGGGAGGG (n.1002+43delinsGACGGGGAGGG)
| dbSNP |
21 | g.45990465_45990466del | CA10070001 | COL6A1 | c.1002+43_1002+44del (n.1002+43_1002+44del)
| dbSNP ExAC gnomAD v4 |
21 | g.45990465_45990467del | CA1022879888 | COL6A1 | c.1002+43_1002+45del (n.1002+43_1002+45del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990472del | CA10070000 | COL6A1 | c.1002+43_1002+50del (n.1002+43_1002+50del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990465_45990474del | CA147302 | COL6A1 | c.1002+43_1002+52del (n.1002+43_1002+52del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990465_45990475delinsAATGGGGCGAG | CA2392434199 | COL6A1 | c.1002+43_1002+53delinsAATGGGGCGAG (n.1002+43_1002+53delinsAATGGGGCGAG)
| |
21 | g.45990465_45990501del | CA2654959230 | COL6A1 | c.1002+43_1002+79del (n.1002+43_1002+79del)
| gnomAD v4 |
21 | g.45990466_45990504del | CA147303 | COL6A1 | c.1002+44_1002+82del (n.1002+44_1002+82del)
| ClinVar dbSNP |
21 | g.45990465_45990507del | CA2654959228 | COL6A1 | c.1002+43_1002+85del (n.1002+43_1002+85del)
| gnomAD v4 |
21 | g.45990465_45990509del | CA657675825 | COL6A1 | c.1002+43_1002+87del (n.1002+43_1002+87del)
| gnomAD v4 COSMIC COSMIC |
21 | g.45990465_45990466insCGGGGAGGG | CA10070002 | COL6A1 | c.1002+43_1002+44insCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGG)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGG | CA1022880622 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGACGGGGAGGG | CA1022880594 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCGGGGCGGG | CA2654972254 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCGGGGCGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCGGGGCGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCGGGGAGGG | CA2654967191 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCGGGGAGGG | CA2654968995 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGG | CA2818093025 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG | CA1022880192 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGG | CA1022880497 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCGGGGCGGG | CA2654967632 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCGGGGCGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCGGGGCGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG | CA2654966518 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGG | CA2654969141 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGG | CA2654969972 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGG | CA2654967760 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970511 | COL6A1 | c.1002+43_1002+44insCAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTGGGGAGGGACGGGGAGGG | CA2654967022 | COL6A1 | c.1002+43_1002+44insGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGG | CA1022880332 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGAGGCGGAGGG | CA2591412705 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGAGGCGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGAGGCGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGAGGG | CA2654968698 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACGGGGAGGGACGGGGAGGG | CA2818093044 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGAGGG | CA1022880503 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGG | CA2550663034 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGACGGGGAGGG | CA1022880194 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCGGGGAGGGACGGGGAGGG | CA2654967179 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGG | CA1022880984 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970646 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2591412745 | COL6A1 | c.1002+43_1002+44insCGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAAGGACGGGGAGGGACGGGGAGGG | CA2591412766 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654969111 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970644 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA1022880202 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGAGGGACGGGGAGGG | CA2654965565 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGGGGAGGGACGGGGAGGG | CA2654972235 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGACGGGGAGGG | CA2654967776 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGAGGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967164 | COL6A1 | c.1002+43_1002+44insGGGAGGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGAGGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG | CA1022880266 | COL6A1 | c.1002+43_1002+44insGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGGAGGGACGGGGAGGG | CA2654965554 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGTCGGTGACCAGGGGAAGGGCGGGGGGGGAGGG | CA2654967724 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGTCGGTGACCAGGGGAAGGGCGGGGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGTCGGTGACCAGGGGAAGGGCGGGGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGAGGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967165 | COL6A1 | c.1002+43_1002+44insGGGAGGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGAGGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGATGGGGTGGACAGGGGGAAGGTGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967132 | COL6A1 | c.1002+43_1002+44insGGGATGGGGTGGACAGGGGGAAGGTGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGATGGGGTGGACAGGGGGAAGGTGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGATGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880232 | COL6A1 | c.1002+43_1002+44insGGGATGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGATGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insGGGGTGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880267 | COL6A1 | c.1002+43_1002+44insGGGGTGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGTGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654967065 | COL6A1 | c.1002+43_1002+44insGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGATGGGGTGGACAGCGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2591412748 | COL6A1 | c.1002+43_1002+44insGGGATGGGGTGGACAGCGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGATGGGGTGGACAGCGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967005 | COL6A1 | c.1002+43_1002+44insGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCAGGGGAGGGAGGGACGGGGAGGG | CA2654967374 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCAGGGGAGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCAGGGGAGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGCCGGGGAGGGACGGGGAGGG | CA2654967030 | COL6A1 | c.1002+43_1002+44insGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGAGGGACGGGGAGGG | CA2654965790 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967039 | COL6A1 | c.1002+43_1002+44insGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967078 | COL6A1 | c.1002+43_1002+44insGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGATGGGGTGGACTGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967054 | COL6A1 | c.1002+43_1002+44insGGGATGGGGTGGACTGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGATGGGGTGGACTGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insTGGGGTGAGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967139 | COL6A1 | c.1002+43_1002+44insTGGGGTGAGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insTGGGGTGAGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACTGGGCTGGGAGGG | CA2654965955 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACTGGGCTGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACTGGGCTGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGGGGGGAGGGACGGGGAGGG | CA2654967556 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGAGGGTGAGGGACGGGGAGGG | CA2654965654 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGAGGGTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGAGGGTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGG | CA2654965608 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGGCAGGGTGAGGGTGACCAGGGGGAGGGGGGAGGGACGGGGAGGG | CA2654966722 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGGGTGAGGGTGACCAGGGGGAGGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGGGTGAGGGTGACCAGGGGGAGGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGACGGGGAGGGACGGGGAGGG | CA2654965390 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGGCGGGGGGGGGGGGAGGG | CA2654971014 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGGCGGGGGGGGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGGCGGGGGGGGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGCTGGGGAGGGACGGGGAGGG | CA2818093048 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGCTGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGCTGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGAGGG | CA2654972232 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGGACGGGGAGGG | CA2654972278 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGATGGACGGGGAGGGACGGGGAGGG | CA2654965611 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGATGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGATGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970577 | COL6A1 | c.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGAGGGACGGGGAGGG | CA2654969097 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insTGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGGACGGGGAGGG | CA2654967135 | COL6A1 | c.1002+43_1002+44insTGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insTGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGACGGGGAGGGACGGGGAGGG | CA1022880178 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGAGGGACGGGGAGGG | CA2654965386 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093038 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880496 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGACGGGGGGGGACGGGGAGGG | CA2654966065 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGACGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGACGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGAGGGACGGGGAGGG | CA10070005 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGAGGGACGGGGAGGG)
| ExAC gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGAGGGACGGGGAGGG | CA2654968845 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970611 | COL6A1 | c.1002+43_1002+44insCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2564856305 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966887 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971535 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGAGGGACGGGGAGGG | CA2654972225 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG | CA2654966899 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGTGCTGGGAGGGACGGGGAGGG | CA2654966048 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGTGCTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGTGCTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACCGGGGAGGTACGGGGAGGGAGAGGGAGGG | CA2654971271 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACCGGGGAGGTACGGGGAGGGAGAGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACCGGGGAGGTACGGGGAGGGAGAGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG | CA2591412746 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880287 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970796 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGTCCAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970637 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGTCCAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGTCCAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG | CA2654969132 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGCGGAGGGACGGGGAGGG | CA2654965622 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGCGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGCGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGGAGGACTGGGAGGGACGGGGAGGG | CA2654965481 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGGAGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGGAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACTGGGAGGGACGGGGAGGG | CA2654965942 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGTGGGACGGGGAGGGACGGGGAGGG | CA2654967911 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGTGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGTGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967188 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGCCGGGCGGGGAGGGACGGGGAGGG | CA2654972252 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGCCGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGCCGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGGAGGAGGGGGAGGGACGGGGAGGG | CA2654969129 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGGAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGGAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966837 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGGGGAGGG | CA2654966112 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGGGAGGGATGTGGTGGACAGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818092992 | COL6A1 | c.1002+43_1002+44insGGGGGAGGGATGTGGTGGACAGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGGAGGGATGTGGTGGACAGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGAAGGACGGGGAGGGCCGGGGAGGG | CA2654965612 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGAAGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGAAGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGTGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971323 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGTGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGTGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTTTGCAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654968275 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTTGCAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTTGCAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGTGGGACGGGGAGGGACGGGGAGGG | CA2654965405 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGTGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGTGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967130 | COL6A1 | c.1002+43_1002+44insGGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTAGGACGGGGAGGGACGGGGAGGG | CA2654965963 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGTCGGGGAGGGACGGGGAGGG | CA2654965913 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGTCGGGGAGGGACGGGGAGGG | CA2654965960 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGGAGGTCGGGGAGGGACGGGGAGGG | CA2654965497 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGGAGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGGAGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2591412792 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGGCAGGGTGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093033 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGGCAGGGTGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGGCAGGGTGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCCGGCAGGAGGGGGAGGGACGGGGAGGG | CA2654965543 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCCGGCAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCCGGCAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654971299 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880290 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGGGGAGGGGAAGGGCGGGGAGGGACGGGGAGGG | CA2654972326 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGGGGAGGGGAAGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGGGGAGGGGAAGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGTGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2516092317 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGTGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGTGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966957 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGAAGGGGAGGG | CA2654967147 | COL6A1 | c.1002+43_1002+44insCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGAAGGGGAGGG (n.1002+43_1002+44insCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGAAGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGAGGGGGAGGGACGGGGAGGG | CA2654965975 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGAGTGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654967955 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGAGTGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGAGTGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAGGGGGTCGGACGGGGAGGGACGGGGAGGG | CA2591412798 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAGGGGGTCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAGGGGGTCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGAAAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971022 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGAAAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGAAAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTACGCACGGGGAGGGACGGGGAGGG | CA2654965410 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTACGCACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTACGCACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967623 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGCACGGGCGGGGAGGGACGGGGAGGG | CA2654972213 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGCACGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGCACGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG | CA2654968597 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGACGGACGGGGAGGGACGGGGAGGG | CA2654971520 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGATGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967178 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGATGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGATGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGAAGGG | CA2654972231 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGAAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGAAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967119 | COL6A1 | c.1002+43_1002+44insGGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGGGGGTCGGGGAGGGACGGGGAGGG | CA2591412794 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGGGGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGGGGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGCGGGGGCGGGCCGGGGAGGG | CA2654971582 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGCGGGGGCGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGCGGGGGCGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCGGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970220 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCGGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCGGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGCAGGTCTGTGAGGGACGGGGAGGG | CA2654966436 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGCAGGTCTGTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGCAGGTCTGTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGAGAAGGTGACCAGGGGAGGTGCGGGGAGGGACGGGGAGGG | CA2654970861 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGAGAAGGTGACCAGGGGAGGTGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGAGAAGGTGACCAGGGGAGGTGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGTCTGGGAGTG | CA2654967471 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGTCTGGGAGTG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGTCTGGGAGTG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGACGGAGGCGGAGGGACGGGGAGGG | CA2654966659 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGACGGAGGCGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGACGGAGGCGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAGGGTGACCCGGGGACGGCCGGGGAGGGACGGGGAGGG | CA2654972303 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAGGGTGACCCGGGGACGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAGGGTGACCCGGGGACGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGATGGTCGGGGAGGGCCGGGGAGGG | CA2654972335 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGATGGTCGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGATGGTCGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880711 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTTTGACGCTGACCAGCGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968257 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTTGACGCTGACCAGCGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTTGACGCTGACCAGCGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTGAGAAGGGGGGGGCACGGGGAGGG | CA2654965419 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTGAGAAGGGGGGGGCACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTGAGAAGGGGGGGGCACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967438 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGTAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967707 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGTAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGTAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967136 | COL6A1 | c.1002+43_1002+44insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGT | CA2654971852 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGT (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGT)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGCGGGGAGGGACGGGGAGGG | CA1022880228 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966378 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGTGATGGACCGGGAGGG | CA2654965668 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGTGATGGACCGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGTGATGGACCGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGATGGTGACCAGAGGACGGACGGGGAGGGACGGGGAGGG | CA2654969043 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGATGGTGACCAGAGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGATGGTGACCAGAGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGTGAAGGACTGGGAGGGACGGGGAGGG | CA2654971401 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGTGAAGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGTGAAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGAAGGACTGTGAGGGACGGGGAGGG | CA2654972317 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGAAGGACTGTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGAAGGACTGTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGGAGGGCGGGGAGGGACGGGGAGGG | CA1022880337 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGGAGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGGAGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGCCCAGGGGTAGGACGGGGAGGGCCGGGGAGGG | CA2654972257 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGCCCAGGGGTAGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGCCCAGGGGTAGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACAAGGGGAGGGTCGGGGAGGGACGGGGAGGG | CA2654972328 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACAAGGGGAGGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACAAGGGGAGGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGGAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972307 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGGAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGGAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGCAGGGCGGGGAGGGACGGGGAGGG | CA2654972288 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGCAGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGCAGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTTACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880336 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTTACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTTACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966482 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGGGAAGGTGCCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970934 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGGGAAGGTGCCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGGGAAGGTGCCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGACCCGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654972334 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGACCCGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGACCCGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGGCGGGGAGGG | CA2511727111 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGGCGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGGCCAGGGGGAGGGCGGGGAGGGACGGGGAGGG | CA2654967186 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGGCCAGGGGGAGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGGCCAGGGGGAGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654968544 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGCGGGACGGGGAGGG | CA2654965890 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGTAGGACGGGGAGGGACGGGGAGGG | CA2654972253 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGTAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGTAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGAGGCAGGACGGGGAGGGACGGGGAGGG | CA2654967445 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGAGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGAGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGTGGG | CA2654966141 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGTGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGTGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGACTGGGAGGGACGGGGAGGG | CA2654965966 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGTAGGACTGGGAGGGACGGGGAGGG | CA2591412702 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGTAGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGTAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2818093037 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654968575 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCAGGGAGGAGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970397 | COL6A1 | c.1002+43_1002+44insCAGGGAGGAGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCAGGGAGGAGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACTGTGGGAAGGGGACCAGGGGGAGGCCGGGGAGGGACGGGGAGGG | CA2654970414 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACTGTGGGAAGGGGACCAGGGGGAGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACTGTGGGAAGGGGACCAGGGGGAGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTTTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968170 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGAGGGGGAGGGGCGGGGAGGG | CA2654965958 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGAGGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGAGGGGGAGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAGGGAGGGGGGGGGGCGGGGAGGG | CA1022880773 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAGGGAGGGGGGGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAGGGAGGGGGGGGGGCGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGAAGGGGACGAGGGGGAGGAGGGGGAGGGACGGGGAGGG | CA2654970991 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGGGACGAGGGGGAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGGGACGAGGGGGAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACAGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971384 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACAGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACAGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTTAGAAGCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967427 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTAGAAGCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTAGAAGCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGAGGGACGGGGAGGG | CA2654967145 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAGGGGGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093026 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGGGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGGGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2549558590 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGCGGGCAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654971103 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGCGGGCAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGCGGGCAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGAGGGGGAGGG | CA2654965684 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGAGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGAGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGAGGGGGAGGGACGGGGAGGG | CA2591412699 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654968951 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGTGGGACGGGGAGGG | CA2654968531 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGTGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGTGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTAACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971749 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTAACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTAACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTGGGTCGGGGAGGGACGGGGAGGG | CA2654965403 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTGGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTGGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGTCGGGGAGGGACGGGGAGGG | CA2654965991 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGGGGGGGATGGGGTGGACAGTGTGAGGGGGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA2591412750 | COL6A1 | c.1002+43_1002+44insGGGGGGGGGATGGGGTGGACAGTGTGAGGGGGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGGGGGGATGGGGTGGACAGTGTGAGGGGGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGGGACCCGGGGTCGGACGGGGAGGGACGGGGAGGG | CA2591412763 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGGGACCCGGGGTCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGGGACCCGGGGTCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG | CA2654971572 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA1022880173 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGTCGGAGGGACGGGGAGGG | CA2654965644 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGTCGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGTCGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGAGCTGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654967152 | COL6A1 | c.1002+43_1002+44insCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGAGCTGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGAGCTGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880298 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654968935 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGACCTGGGGAGGGTGGGGGAGGGACGGGGGGGG | CA2654972244 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGACCTGGGGAGGGTGGGGGAGGGACGGGGGGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGACCTGGGGAGGGTGGGGGAGGGACGGGGGGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGTAGGACGGGGAGGGACGGGGAGGG | CA2654965574 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGTAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGTAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967159 | COL6A1 | c.1002+43_1002+44insCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGGGGGGCGGGGAGGG | CA2654965848 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGGGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGGGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG | CA2654972318 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGGGGACAGAGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA1022880234 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGGGGACAGAGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGGGGACAGAGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTTAGAAGGTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968107 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTAGAAGGTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTAGAAGGTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACTGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971274 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACTGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACTGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCTGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG | CA2654967161 | COL6A1 | c.1002+43_1002+44insCTGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCTGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCTGGGGAGGGCCGGGGAGGGACGGGGAGGG | CA2654965582 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCTGGGGAGGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCTGGGGAGGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGCAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA2654972304 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGCAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGCAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTAAGGACTGGGAGGGACGGGGAGGG | CA2654965407 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTAAGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTAAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGCCCGGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967311 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGCCCGGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGCCCGGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654966449 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGTGAGGGACGGGGAGGGACGGGGAGGG | CA2654971269 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGTGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGTGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGATGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967148 | COL6A1 | c.1002+43_1002+44insCGGGGATGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGATGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966691 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGAAGGACGGGGGGGGACGGGGAGGG | CA2654972285 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGAAGGACGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGAAGGACGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGAGGGGGAGGG | CA2654967141 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGAGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGAGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2591412785 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGATGGTGACCAGGGGAGGGACGGTGAGGGCCGGGGAGGG | CA2654967180 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGATGGTGACCAGGGGAGGGACGGTGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGATGGTGACCAGGGGAGGGACGGTGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGCGGG | CA2654971858 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGCGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGCGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGTCCAGGGGAGGGAGGGGGTGGGACGGGGAGGG | CA2654972297 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGTCCAGGGGAGGGAGGGGGTGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGTCCAGGGGAGGGAGGGGGTGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654971590 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGCCAGTGTGAAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971032 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGCCAGTGTGAAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGCCAGTGTGAAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGAGGGGGAGGG | CA2654972198 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGAGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGAGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA1022880312 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGCGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965546 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGCGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGCGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGAGGAGGGACGGGGAGGG | CA2654972223 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGAGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGAGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGATGGAAGGTGACCCGGGGTAGGCCGGGGAGGGACGGGGAGGG | CA2818093032 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGATGGAAGGTGACCCGGGGTAGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGATGGAAGGTGACCCGGGGTAGGCCGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGCAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGACGGACGGGGAGGCACGGGGAGGG | CA2591412779 | COL6A1 | c.1002+43_1002+44insCGGGCAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGACGGACGGGGAGGCACGGGGAGGG (n.1002+43_1002+44insCGGGCAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGACGGACGGGGAGGCACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGGGGGACGGGGAGGG | CA2654965835 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCCGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965540 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCCGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCCGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGCAGGCCGGGGAGGGACGGGGAGGG | CA2654965562 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGCAGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGCAGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA1022880686 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAAGGACGGGGAGGG | CA1022880831 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAAGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCCGTGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972321 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCCGTGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCCGTGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGTCGGACGGGGAGGGACGGGGAGGG | CA2654967514 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGTCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGTCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACACTGTGAAGCTGACCAGGGGAAGGACGCGGCGGGACGGGGAGGG | CA2654970838 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACACTGTGAAGCTGACCAGGGGAAGGACGCGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACACTGTGAAGCTGACCAGGGGAAGGACGCGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGCCGGGGAGGG | CA2654966009 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971018 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCCGGGGAAGGGCGGGGAGGGACGGGGAGGG | CA2654967405 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCCGGGGAAGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCCGGGGAAGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGGCAGTGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093020 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880733 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGCGGTCGGACGGGGAGGGACGGGGAGGG | CA2654969089 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGCGGTCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGCGGTCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG | CA2654966121 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGGGAGGGATGGGGTGGACAGTGTGCAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966990 | COL6A1 | c.1002+43_1002+44insGGGGGAGGGATGGGGTGGACAGTGTGCAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGGAGGGATGGGGTGGACAGTGTGCAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880384 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTCACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971780 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTCACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTCACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGGAGGAGGGGGAGGGAGGGGGAGGG | CA2654972290 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGGAGGAGGGGGAGGGAGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGGAGGAGGGGGAGGGAGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970115 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967462 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGCGGAAGGGCGGGGCGGGACGGGGAGGG | CA2654972329 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGCGGAAGGGCGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGCGGAAGGGCGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGGGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG | CA2591412762 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGGGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGGGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGGGGTCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880235 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGGGGTCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGGGGTCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880260 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967990 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGTCCAGGGGTAGGACGGGGAGGGACGGGGAGGG | CA2654972298 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGTCCAGGGGTAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGTCCAGGGGTAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGTGGG | CA2654966297 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGTGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGTGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGAGGGGGTGGG | CA2654965626 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGAGGGGGTGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGAGGGGGTGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGGCAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880683 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGGCAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGGCAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGCACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654966374 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGCACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGCACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGGGAAGGTGACCAGGGGCAGGGCGGGGAGGGACGGGGAGGG | CA2654968445 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGGGAAGGTGACCAGGGGCAGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGGGAAGGTGACCAGGGGCAGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGTGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965575 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGTGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGTGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654965571 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGAGAGGG | CA2831970974 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGAGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGAGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTCAAGGTGACCAGGGGAAGTACGGGGAGGGACGGGGAGGG | CA2654972308 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTCAAGGTGACCAGGGGAAGTACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTCAAGGTGACCAGGGGAAGTACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGTAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967229 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGTAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGTAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGCCAAGGACGGGGAGGGACGGGGAGGG | CA2818093043 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGCCAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGCCAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGTCGGTCGGGGAGGGACGGGGAGGG | CA2654971532 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGTCGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGTCGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGGGGAGGG | CA2654967094 | COL6A1 | c.1002+43_1002+44insGGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCCGGGGCAGGACGGGGAGGGACGGGGAGGG | CA2654967143 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCCGGGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCCGGGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654965570 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967151 | COL6A1 | c.1002+43_1002+44insCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCGGGGGTGGACCGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966366 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCGGGGGTGGACCGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCGGGGGTGGACCGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACAAGAACGACCGGGAGGGACGGGGAGGG | CA2654971373 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACAAGAACGACCGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACAAGAACGACCGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880680 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654970275 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGCGGGATGGGGTGGCCAGGGTGAAGGTGACCAGGGGAAGGTCGGGGAGGGACGGGGAGGG | CA2654967154 | COL6A1 | c.1002+43_1002+44insCGGGGCGGGATGGGGTGGCCAGGGTGAAGGTGACCAGGGGAAGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGCGGGATGGGGTGGCCAGGGTGAAGGTGACCAGGGGAAGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGATGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972309 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGATGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGATGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880241 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGTGAGGGACGGGGAGGG | CA2654965659 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGTACGGGGAGGG | CA2654965580 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGTACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGTACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969959 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGCGGAGGGGCGGGGAGGG | CA2654966283 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGCGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGCGGAGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTCACCAGGGGAAGCACGGGGAGGGACGGGGAGGG | CA2654971766 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTCACCAGGGGAAGCACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTCACCAGGGGAAGCACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967162 | COL6A1 | c.1002+43_1002+44insGCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGG | CA2654972032 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGTCGGACGGGGAGGGACGGGGAGGG | CA2654965563 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGTCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGTCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGCAGGACGCGGAGGGACGGGGAGGG | CA2654971529 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGCAGGACGCGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGCAGGACGCGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGTAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA2591412784 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGTAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGTAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGTGAGGGCCGGGGAGGG | CA2654965661 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGTGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGTGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGCCGGGGAGGGACGGGGAGGG | CA2654965778 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880596 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGAGGGAGGACGGGGAGGGACGGGGAGGG | CA2654965545 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGAGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGAGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGCCGGGGAGGG | CA2654970176 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGAGGAGGGGGAGGGGCGGGGAGGG | CA1022880297 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGAGGAGGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGAGGAGGGGGAGGGGCGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACTGTGTGAAGGTGACCAGGGGGAGGACGCTGAGGGTCGGGGAGGG | CA2654966562 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACTGTGTGAAGGTGACCAGGGGGAGGACGCTGAGGGTCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACTGTGTGAAGGTGACCAGGGGGAGGACGCTGAGGGTCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG | CA2591412716 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAGGGACTGGGAGGGACGGGGAGGG | CA2654965473 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAGGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAGGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGAGCAGGGGGAGGAGGGGGAGGGGGGGGGAGGG | CA2654972245 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGAGCAGGGGGAGGAGGGGGAGGGGGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGAGCAGGGGGAGGAGGGGGAGGGGGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970140 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGATCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968416 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGATCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGATCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTTTGAAGGTGACCAGGGTAAGCACGGGGAGGGACGGGGAGGG | CA2654968227 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTTGAAGGTGACCAGGGTAAGCACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTTGAAGGTGACCAGGGTAAGCACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG | CA1022880204 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGGGGGGAGTGTGAAGGTGACCAGGGGAAGGAGGGGGGGGGACGGGGGGGG | CA2654970102 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGGGGGGAGTGTGAAGGTGACCAGGGGAAGGAGGGGGGGGGACGGGGGGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGGGGGGAGTGTGAAGGTGACCAGGGGAAGGAGGGGGGGGGACGGGGGGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGCGGGACGGGGAGGG | CA2654965651 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2543284244 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGATGGAGGGGGAGGGACGGGGAGGG | CA2654965560 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGATGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGATGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGCCGGGGAGGG | CA2654965664 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967181 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGCAGGTGGCCAGGGGTAGGACGGGGAGGGACGGGGAGGG | CA2654972305 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGCAGGTGGCCAGGGGTAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGCAGGTGGCCAGGGGTAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGTGGACAGGGGGAGGGGGACCGGGGGTAGGACGGGGAGGGACGGGGAGGG | CA2539662864 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGTGGACAGGGGGAGGGGGACCGGGGGTAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGTGGACAGGGGGAGGGGGACCGGGGGTAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGTGGGCAGGTGACCAGGGGAAGGACGGGGAGGGCAGGGGGGGG | CA1022880608 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGGGCAGGTGACCAGGGGAAGGACGGGGAGGGCAGGGGGGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGGGCAGGTGACCAGGGGAAGGACGGGGAGGGCAGGGGGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971012 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972302 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880432 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGGGGGAGGGGGAGGGACGGGGAGGG | CA1022880326 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGGGGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGGGGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insTGGGGAGTGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967137 | COL6A1 | c.1002+43_1002+44insTGGGGAGTGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insTGGGGAGTGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGTGGGCAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968069 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGGGCAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGGGCAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGCTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG | CA2654972311 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGCTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGCTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCCGGTCGGGGAGGGACGGGGAGGG | CA2654966242 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCCGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCCGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGGGAAGGTGACCAGGGGTCGGACGGGGAGGGACGGGGAGGG | CA2654970910 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGGGAAGGTGACCAGGGGTCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGGGAAGGTGACCAGGGGTCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967153 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGCACGGGGAGGGACGGGGAGGG | CA2654965620 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGCACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGCACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCCGGCCGGGGAGGGACGGGGAGGG | CA2654966231 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCCGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCCGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGGCCAGGGGAGGGAGGGGGAGGGACGGGGAGGG | CA2654967177 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGGCCAGGGGAGGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGGCCAGGGGAGGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880670 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG | CA1022880217 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2591412757 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGACGGTCGGGGAGGGACGGGGAGGG | CA2654972337 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGACGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGACGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA1022880780 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654972293 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972242 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654970157 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654971807 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGCGGAGGG | CA2591412775 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGCGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGCGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGCGGGATGGGGTGGCCAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967156 | COL6A1 | c.1002+43_1002+44insCGGGGCGGGATGGGGTGGCCAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGCGGGATGGGGTGGCCAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGGGTGCAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968088 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGGGTGCAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGGGTGCAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTCGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970638 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTCGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTCGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGGGGGAGGGGGAGGGGCGGGGAGGG | CA2591412797 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGGGGGAGGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGGGGGAGGGGGAGGGGCGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880585 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972258 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654972292 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654971824 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGGGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654967142 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGGGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGGGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGCCAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966590 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGCCAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGCCAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGCGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972312 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGCGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGCGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACTGGGAGGG | CA2654971845 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACTGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACTGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880184 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA1022880176 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGAGGTGGGACGGGGAGGGACGGGGAGGG | CA2654972247 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGAGGTGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGAGGTGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654972299 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA1022880216 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGCAGGCCGGGGAGGGACGGGGAGGG | CA2654966669 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGCAGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGCAGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGGGGGACGGGGGGGGACGGGGAGGG | CA2654967340 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGGGGGACGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGGGGGACGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGATGACCAGGTGGAGGTCGGGGAGGGACGGGGAGGG | CA2654972310 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGATGACCAGGTGGAGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGATGACCAGGTGGAGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACCGGGGCCGGACGGGGAGGGACGGGGAGGG | CA2654971272 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACCGGGGCCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACCGGGGCCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGAGACGGGGAGGG | CA1022880544 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGAGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGAGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGGTGGGGGAGGGACGGGGAGGG | CA2654965555 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGGTGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGGTGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGGGAGGGATGGGGAGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967105 | COL6A1 | c.1002+43_1002+44insGGGGGAGGGATGGGGAGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGGAGGGATGGGGAGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654969145 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGACAGGGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2569574842 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGACAGGGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGACAGGGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGAGGG | CA2654965627 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA1022880219 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654972286 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG | CA2654967174 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654972301 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGAACGGGGAGGG | CA2654972210 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGAACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGAACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972241 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGCCCAGGGGACGGCCGGGGAGTGCCGGGGAGGG | CA2654972322 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGCCCAGGGGACGGCCGGGGAGTGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGCCCAGGGGACGGCCGGGGAGTGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGGCGGGGAGGGACGGGGAGGG | CA2654966506 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGCAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972261 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGCAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGCAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGCCAGGGTGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG | CA2654971009 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGCCAGGGTGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGCCAGGGTGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGGCAGTGTGAAGGTGACCAGGGGGGGGGGGGGGAGGGACGGGGAGGG | CA2654966780 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGTGAAGGTGACCAGGGGGGGGGGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGTGAAGGTGACCAGGGGGGGGGGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACGGGACGGACGGGGAGGGACGGGGAGGG | CA2654971427 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACTGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971450 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACTGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACTGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGCCGGACGGGGAGGGACGGGGAGGG | CA2654972289 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGCCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGCCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGCCGGACGGGGAGGGCCGGGGAGGG | CA2654967502 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGCCGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGCCGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGATAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967933 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGATAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGATAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGCCGGGGAGGG | CA2654972175 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACTGTGAGCGACGGGGAGGG | CA2654965438 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACTGTGAGCGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACTGTGAGCGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGGAGGAGGGGGAGGGACGGGGAGGG | CA2654971506 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGGAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGGAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGGCGGGGAGGG | CA1022880221 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGGCGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGCACGGGGAGGGACGGGGAGGG | CA2654970151 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGCACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGCACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGG | CA2654969117 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGGAGGGGGGGGAGGGACGGGGAGGG | CA2654965573 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGGAGGGGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGGAGGGGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACTGTGAGGGACGGGGAGGG | CA2654965452 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACTGTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACTGTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACCGGGAGGGACGGGGAGGG | CA1022880230 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACCGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACCGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGCCGGGGAGGGACGGGGAGGG | CA2654972249 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG | CA2547217115 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967877 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGAGTGAAGGTGACCAGTGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968325 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGAGTGAAGGTGACCAGTGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGAGTGAAGGTGACCAGTGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGTGTGAGGGACGGGGAGGG | CA2654965749 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGTGTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGTGTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGTGGGACGGGGAGGG | CA2591412733 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGTGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGTGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880789 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGCGGGAGGGGGTGGACAGTGTGAAGGTGAGCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA1022880199 | COL6A1 | c.1002+43_1002+44insCGGGGCGGGAGGGGGTGGACAGTGTGAAGGTGAGCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGCGGGAGGGGGTGGACAGTGTGAAGGTGAGCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654972259 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGACGCTCGGGGAGGGACGGGGAGGG | CA2654972250 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGACGCTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGACGCTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGATGG | CA2654971855 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGATGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGATGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAGGGGCGGTGCGGGGCGGGGAGGG | CA2654968587 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAGGGGCGGTGCGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAGGGGCGGTGCGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCATGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965532 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCATGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCATGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACGAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654965564 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACGAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACGAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972240 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880533 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGTCCAGGGGAGGGTGAGGGAGGGACGGGGAGGG | CA2654966532 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGTCCAGGGGAGGGTGAGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGTCCAGGGGAGGGTGAGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880747 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG | CA2654972331 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967134 | COL6A1 | c.1002+43_1002+44insGGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGGGGGACGGGGAGGG | CA2654965633 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGTGAGGGACTGGGAGGG | CA2591412739 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGTGAGGGACTGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGTGAGGGACTGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880250 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGCGGGAGGACGGGGAGGGACGGGGAGGG | CA2654965548 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGCGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGCGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTCTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972300 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTCTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTCTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGCGGGCTGGGGTGGCCCGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967157 | COL6A1 | c.1002+43_1002+44insCGGGGCGGGCTGGGGTGGCCCGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGCGGGCTGGGGTGGCCCGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGGGGGACGGGGAGGG | CA2654965721 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGGCGGACGGGGAGGGCCGGGGAGGG | CA2654971536 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGGCGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGGCGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGTAGGTGACCAGTGGAAGGGCGGGGAGGGACGTGGTGGG | CA2654972314 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGTAGGTGACCAGTGGAAGGGCGGGGAGGGACGTGGTGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGTAGGTGACCAGTGGAAGGGCGGGGAGGGACGTGGTGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966554 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654966649 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970138 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGCAGGACGGGGAGGGACGGGGAGGG | CA1022880258 | COL6A1 | c.1002+43_1002+44insCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGG | CA1022880214 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGCGGGACGGGGAGGG | CA2654965615 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971159 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654967168 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGTGGGACGGGGAGGG | CA2818092961 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGTGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGTGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACAGGGAGGGACGGGGAGGG | CA1022880825 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACAGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACAGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTTGGAAGGTGACCAGGGGACGGGCGGGGAGGGACGGGGAGGG | CA2654968128 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTGGAAGGTGACCAGGGGACGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTGGAAGGTGACCAGGGGACGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGATGGACGGGGAGGG | CA2654972151 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGATGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGATGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGAGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG | CA2654970895 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGAGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGAGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGGGGGAGGGGGAGGGACGGGGAGGG | CA1022880792 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGGGGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGGGGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCAGGGAGGGGTGGGGTGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970498 | COL6A1 | c.1002+43_1002+44insCAGGGAGGGGTGGGGTGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCAGGGAGGGGTGGGGTGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGCGGGACGGGGAGGG | CA2654965708 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGTGAGGGACGGGGAGGG | CA2654965665 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGACGGACTGTGAGGGACGGGGAGGG | CA2654965464 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGACGGACTGTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGACGGACTGTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGTGGGACGGGGAGGG | CA2654965735 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGTGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGTGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGTACGGACGGGGAGGGACGGGGAGGG | CA2654972319 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGTACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGTACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654972296 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGTGGACGGCCGGGGAGGGACGGGGAGGG | CA2654967184 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGTGGACGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGTGGACGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654967899 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGGCAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966734 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGTCGGTCGGGGAGGGACGGGGAGGG | CA2654967175 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGTCGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGTCGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG | CA1022880211 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGGGGAGGGACGGGGAGGG | CA2654965641 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA2654967173 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGGGGGAAGGGGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654968349 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGGGGGAAGGGGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGGGGGAAGGGGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGATCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654972256 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGATCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGATCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969137 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAGGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654971358 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAGGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAGGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGGGAGGGAAGGGGAGGG | CA2654965635 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGGGAGGGAAGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGGGAGGGAAGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGACGG | CA1022880206 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGACGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGACGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971268 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCACGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGTGTGGAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971251 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGGAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGGAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA638178921 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGGGGAGGGCCGGGGAGGG | CA2654965642 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGGGACGGTGACCCGGGGATGGACGGGGAGGGACGGGGAGGG | CA2654970948 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGGGACGGTGACCCGGGGATGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGGGACGGTGACCCGGGGATGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965566 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGGAGGTCGGGGAGGGACGGGGAGGG | CA2654971308 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGGAGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGGAGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACAGGGAGGGGCGGGGAGGG | CA2654972220 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACAGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACAGGGAGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966354 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGGGGGGGAGGGGCGGGGAGGG | CA1022880155 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGGGGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGGGGGGGAGGGGCGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGTGGGCAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880247 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGTGGGCAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGTGGGCAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGAAGGACTCGGAGGGACGGGGAGGG | CA2654972316 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGAAGGACTCGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGAAGGACTCGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGTGTGAGGGCCGGGGAGGG | CA2654966193 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGTGTGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGTGTGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880340 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGTGTGGACAGTGGGAAGGTGTCCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2818093014 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGTGTGGACAGTGGGAAGGTGTCCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGTGTGGACAGTGGGAAGGTGTCCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insGGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGGCGGGGAGGGACGGGGAGGG | CA2654967129 | COL6A1 | c.1002+43_1002+44insGGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGCCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967297 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGCCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGCCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970485 | COL6A1 | c.1002+43_1002+44insCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGTAGGTGACCAGGGGACGGACGGGGTGGGACGGGGAGGG | CA2654967692 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGTAGGTGACCAGGGGACGGACGGGGTGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGTAGGTGACCAGGGGACGGACGGGGTGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880300 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG | CA2654969124 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGAGACGGTGACCAGGGAAAGGACGGGGAGGGACGGGGAGGG | CA2654972323 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGACGGTGACCAGGGAAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGACGGTGACCAGGGAAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGCCGGGGAGGGACGGGGAGGG | CA2654966628 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGATGGTGACCAGGGGAAGGGCGGGGTGGGACGGGGAGGG | CA2818093046 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGATGGTGACCAGGGGAAGGGCGGGGTGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGATGGTGACCAGGGGAAGGGCGGGGTGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCCGGACGGGGAGGGACGGGGAGGG | CA2654966224 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCCGGGGTCGTGCGGGGAGGGCCGGGGAGGG | CA2654965577 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCCGGGGTCGTGCGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCCGGGGTCGTGCGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654967490 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2591412755 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTACGGGGAGGG | CA2654972105 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACGGGGGGAAGGGGGGGGGGGGGGGGGGAGGG | CA2654971537 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACGGGGGGAAGGGGGGGGGGGGGGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACGGGGGGAAGGGGGGGGGGGGGGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGTACGGGGAGGGACGGGGAGGG | CA2654965618 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGTACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGTACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGGGGGGGAGGGACGGGGAGGG | CA2591412698 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGGGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGGGGGGGAGGGACGGGGAGGG)
| gnomAD v3 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGTGGTCGGGGAGGG | CA2654965655 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGTGGTCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGTGGTCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGGGGGAGGGACGGGGAGGG | CA2654966169 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654972333 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2511727112 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA1022880739 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGGCAGTGGGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654966747 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGGGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGGGACGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGTACAGATTGAAGGTGACCAGAGGCAGTACGGGGAGGGACGGGGAGGG | CA2654966830 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGTACAGATTGAAGGTGACCAGAGGCAGTACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGTACAGATTGAAGGTGACCAGAGGCAGTACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGCCGGACGGGGAGGGACGGGGAGGG | CA2654972295 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGCCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGCCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGGTGGGGAGGG | CA2654965699 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGGTGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGGTGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGTCGGGGAGGG | CA2654965629 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGTCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGTCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654969128 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGCGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGCCGGGGAGGG | CA2654967149 | COL6A1 | c.1002+43_1002+44insCGGGGCGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGCGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAAGGGGAGGG | CA2654972229 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAAGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAAGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACTGGGAGGGACGGGGAGGG | CA2654965430 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGAAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGGGAGGGACGGGGAGGG | CA2591412737 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGTTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654967247 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGTTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGTTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGAGTGGACGGCGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971019 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGAGTGGACGGCGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGAGTGGACGGCGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGAGGG | CA2654967183 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654967182 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGGGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966410 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGGGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGGGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGTGGTGGGCAGGGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966324 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGTGGTGGGCAGGGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGTGGTGGGCAGGGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGTAAGGACGGGGAGGGGCGGGGAGGG | CA2654971650 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGTAAGGACGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGTAAGGACGGGGAGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGTTGGTCGGGGAGGGACGGGGAGGG | CA2654965522 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGTTGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGTTGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654965549 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGATCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654967270 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGATCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGATCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2544057218 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880688 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG | CA2654969126 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGCCGGGGGGGGACGGGGAGGG | CA2654970147 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGCCGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGCCGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGCGAAGGACGGGGAGGGACGGGGAGGG | CA2654971534 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGCGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGCGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGG | CA2654971870 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGCACAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967275 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGCACAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGCACAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGGGAGGGGCGGGGAGGG | CA2654965636 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACTGGGAGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGTAGGG | CA2654971921 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGTAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGTAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG | CA2654965647 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGTCGGGGAGGGACGGGGAGGG | CA2654966027 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGTCGGGGAGGGACGGGGAGGG | CA2654966099 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGTGAGGGCCGGGGAGGG | CA2818092966 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGTGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGTGAGGGCCGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGAAGCGACGGGGAGGG | CA1022880827 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGAAGCGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGAAGCGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGCAGGGAAGCGCAGGT | CA2654972226 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGCAGGGAAGCGCAGGT (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGCAGGGAAGCGCAGGT)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGACGGGGAGGG | CA2654967858 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGACGGGGAGGGACGGGGTGGG | CA2654970239 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGACGGGGAGGGACGGGGTGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGACGGGGAGGGACGGGGTGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGAGGGCCGGGGAGGG | CA2654965650 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCCGCGGACGGAGTGTGAGGGACGGGGAGGG | CA2654972320 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCCGCGGACGGAGTGTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCCGCGGACGGAGTGTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTGCAGGGGAAGGGCGGGGAGGGACGGGGAGGG | CA2654967416 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTGCAGGGGAAGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTGCAGGGGAAGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGCGGGAGGGGGTGGGCAGGGGGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967150 | COL6A1 | c.1002+43_1002+44insCGGGGCGGGAGGGGGTGGGCAGGGGGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGCGGGAGGGGGTGGGCAGGGGGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG | CA2654971985 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG | CA2654965929 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967189 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGAGGAGGGCGGGGAGGGGCGGGGAGGG | CA1022880456 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGAGGAGGGCGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGAGGAGGGCGGGGAGGGGCGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGAGGGACGGGGAGGG | CA2654965874 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGTCTGACGGGGAGGGACGGGGCGGG | CA2654971836 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGTCTGACGGGGAGGGACGGGGCGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGGTCTGACGGGGAGGGACGGGGCGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGACGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGACGGGGAGGGACTGGGAGGG | CA2654970620 | COL6A1 | c.1002+43_1002+44insCGGGGACGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGACGGGGAGGGACTGGGAGGG (n.1002+43_1002+44insCGGGGACGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGACGGGGAGGGACTGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGGCGGGGAGGGACGGGGAGGG | CA2654966204 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTAGGTCGGGGAGGGACGGGGAGGG | CA2654965964 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTAGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTAGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654965558 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGGAGGAGTGGGAGGGACGGGGAGGG | CA2654969130 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGGAGGAGTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGGAGGAGTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGACCAGGGGCCGGACGGGGGGGGACGGGGTGGG | CA2654972243 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGACCAGGGGCCGGACGGGGGGGGACGGGGTGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGGGAAGGTGACCAGGGGCCGGACGGGGGGGGACGGGGTGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGAAGGAGACCAGGGGGCGGTCGGGGAGGGACGGGGAGGG | CA2654970987 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGAGACCAGGGGGCGGTCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGAGACCAGGGGGCGGTCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGTCTCTGAGGGACGGGGAGGG | CA2654966037 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGTCTCTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGTCTCTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGG | CA2654965766 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654967172 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGAGGGACGGGGAGGG | CA2654965817 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880396 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967388 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGTGGACAGTGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880238 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGTGGACAGTGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGTGGACAGTGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGCCGGACGGGGAGGGACGGGGAGGG | CA2654971530 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGCCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGCCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCGGGGGAAGGACGGGGAGGGCCGGGGAGGG | CA2654967185 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCGGGGGAAGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGCAGGTGACCGGGGGAAGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968500 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGAG | CA2654972233 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGAG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGAG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966312 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGTGGAGGG | CA2654971939 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGTGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGTGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGCCAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654966578 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGCCAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGCCAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGGGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGGGGCGGGACGGGGAGGG | CA2654967158 | COL6A1 | c.1002+43_1002+44insCGGGGGGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGGGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGCGGGACGGGGAGGG | CA2818092981 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGCGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACGGGGAGGGGCGGGGAGGG | CA1022880171 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGACGGGGAGGGGCGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGGGGGGAGGG | CA1022880201 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGGGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880931 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGAAGGACGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGTCTGGGAGGGACGGGGAGGG | CA2654965961 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGTCTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGTCTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAGGGGCGGGGAGGGACGGGGAGGG | CA2654965572 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAGGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGCAGGGGAGGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967834 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972324 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAGGGGGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA2654967170 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGGGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGGGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGCAGGACGGGGAGGGCCGGGGAGGG | CA2654965613 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGCAGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGCAGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGGGGGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654968369 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGGGGGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGGGGGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGTGGAAGTACGGGGAGGGACGGGGAGGG | CA2654972313 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGTGGAAGTACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGTGGAAGTACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880305 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880400 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAATGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970819 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAATGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAATGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGGGGGACGGGGAGGG | CA2654965957 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGCCGGGGAGGGACGGGGAGGG | CA2654966495 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880756 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGGCGGGGGGGGGGGGAGGGGGAGGG | CA2654972291 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGGCGGGGGGGGGGGGAGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGGCGGGGGGGGGGGGAGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGGCGGGGAGGG | CA1022880704 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGGCGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGAGGAGGGACGGGGAGGG | CA2654965621 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGAGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGAGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGGGCAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968464 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGGGCAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGGGCAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGACGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG | CA2591412768 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGACGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGACGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972306 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880551 | COL6A1 | c.1002+43_1002+44insCAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGG | CA2654971566 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGAGGGACGGGGAGGG | CA2654970191 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGTGGAGGGACGGGGAGGG | CA1022880218 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGTGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGTGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGGTGGACTCGGAGCTACGGGGAGGG | CA2654965505 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGGTGGACTCGGAGCTACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGTGGGTGGACTCGGAGCTACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2591412765 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971023 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTTTGAAGGTGACCAGGGGAAGTACGGTGAGGGACGGGGAGGG | CA2654968200 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTTGAAGGTGACCAGGGGAAGTACGGTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTTGAAGGTGACCAGGGGAAGTACGGTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCCGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2591412707 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCCGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCCGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGGCAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971265 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGGCAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGGCAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGACGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA2654972260 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGACGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGACGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACGAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA2542812518 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACGAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACGAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGGCGGACGGGGAGGGACGGGGAGGG | CA2591412756 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGGCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGGCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGGCAGGGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA2512297387 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGGGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGGGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGCTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971020 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGCTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGCTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGCGGGGGGGGACGGGGAGGG | CA2654965616 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGCGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGCGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968394 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACTGGGAGGGGCGGGGAGGG | CA2654965804 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACTGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACTGGGAGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTCTGAGGGACGGGGAGGG | CA2654965662 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTCTGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTCTGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971285 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGTGGACGGACGGGGAGGGACGGGGAGGG | CA2654971337 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGTGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACAAGTGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGGGGG | CA2654972009 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGGGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGGGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGAAGGCCGGGGAGGGACGGGGAGGG | CA2654965557 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGAAGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGAAGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654972325 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGGGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGTGACGGGGAGGG | CA2654972121 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGTGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGTGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAAGAGGGGTAGGACGGGGAGGGACGGGGAGGG | CA2654971275 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAAGAGGGGTAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAAGAGGGGTAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGACGGGGAGGGACGGGGAGGG | CA2591412694 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGGCAGTGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970709 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGGCAGTGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGGCAGTGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGAGAGTGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880380 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGAGAGTGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGAGAGTGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGTCTGGGAGGGACGGGGAGGG | CA2654966159 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGTCTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGGTCTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG | CA2654972219 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGTGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968014 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGCCGGGGTGGGACGGGGAGGG | CA2654965559 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGCCGGGGTGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGACGGCCGGGGTGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGCGGAGGGCCGGGGAGGG | CA2654972224 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGCGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGCGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGACGGGCGGGGAGGGACGGGGAGGG | CA2654972294 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGACGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCCGGGGACGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAATGACGGGGCGGGACGGGGAGGG | CA2654965619 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAATGACGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAATGACGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGCTGAGGG | CA2591412723 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGCTGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGCTGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG | CA2654967171 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654968977 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654967359 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTCCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGTGAGTGACGGGGAGGG | CA2654965667 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGTGAGTGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGTGAGTGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGCGGG | CA2654966133 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGCGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGCGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAAGACGGGGAGGGACGGGGAGGG | CA2654972215 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAAGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAAGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967176 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAGGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGGGGGCAGGGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093039 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGGGGGCAGGGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGGGGGCAGGGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTAAGGACGGGGAGGGACGGGGAGGG | CA1022880181 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGACGGGGAGGG | CA2654965617 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGCGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGGCTGGGAGGGACGGGGAGGG | CA2654967155 | COL6A1 | c.1002+43_1002+44insCGGGGCGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGGCTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGCGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGGCTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGTCCCGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654967169 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGTCCCGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGTCCCGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAGGAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654971726 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAGGAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAGGAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG | CA2818093004 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGGGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880668 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGGGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGGGGGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGGCGGGGAGGGACGGGGAGGG | CA2654965669 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGAGAGGGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971262 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGAGAGGGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGAGAGGGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGCACGGGGAGGGACGGGGAGGG | CA2654965965 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGCACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGTCGCACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGCAGGACGGGGAGGGACGGGGAGGG | CA2654965561 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCTGGGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGCGGGGCGGGACGGGGAGGG | CA2654965631 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGCGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGGCGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGCG | CA1022880207 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGCG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGCG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGTGGG | CA2654971904 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGTGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGTGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGAAGGGGAGGGACTGGGAGGGGCGGGGAGGG | CA2654965567 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGAAGGGGAGGGACTGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGAAGGGGAGGGACTGGGAGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGTAGGTGACCAGGGGACGGAGGGGGAGGGACGGGGAGGG | CA2654967219 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGTAGGTGACCAGGGGACGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGTAGGTGACCAGGGGACGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2591412790 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGTG | CA2654971854 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGTG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGTG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971513 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGATGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654967166 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGATGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGATGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGGG | CA2654972230 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGTAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967203 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGTAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGTAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654967672 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGACGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG | CA2654966457 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968302 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972246 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGTAAGCACGGGGAGGGACGGGGAGGG | CA2654971844 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGTAAGCACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACAGGGTAAGCACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGCAAGCACGGGGAGGGACGGGGAGGG | CA2654972315 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGCAAGCACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGAGAAGGTGACCAGGGCAAGCACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGTGGTGGACAGGGTGAAGGTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966608 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGTGGTGGACAGGGTGAAGGTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGTGGTGGACAGGGTGAAGGTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971539 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880655 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969061 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGACTGGACGGGGAGGGACGGGGAGGG | CA2654972336 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGACTGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGACTGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965614 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGCGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965547 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGCGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGCGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGAGGG | CA2654971863 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967531 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972239 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGCGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972238 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGCGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGCGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968674 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGTAGGACGACGGGGAGGGACGGGGAGGG | CA2654972276 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGTAGGACGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGTAGGACGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCCCCGGGGGGTGGACGGGGAGGGACGGGGAGGG | CA2654967599 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCCCCGGGGGGTGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCCCCGGGGGGTGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880409 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGAAGGAGTGACGGGGAGGGACGGGGAGGG | CA2654971474 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGAAGGAGTGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGAAGGAGTGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970643 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGAGAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965513 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGAGAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGAGAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880950 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965610 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGGGGGGGGGGGGAGGGGCGGGGAGGG | CA2654972283 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGGGGGGGGGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGGGGGGGGGGGGAGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGACGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971526 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGACGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGCGGACGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACTGGTAGGCACGGGACGGGGAGGG | CA2654965807 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACTGGTAGGCACGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACTGGTAGGCACGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971559 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAGGG | CA2654969862 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967543 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGAAGGACGGGGAGGGACGGGGAGGG | CA2654968746 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGAACAGGGGGGGGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972327 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGAACAGGGGGGGGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGAACAGGGGGGGGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968484 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGGGAGGG | CA2818093031 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAGGG | CA2818093030 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968756 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGGG | CA2654972262 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965388 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968771 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGGGGAGGG | CA10070004 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGGGGAGGG)
| ExAC gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGCCGGACTGAAGGACGGGGAGGGACGGGGAGGG | CA2654968619 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGCCGGACTGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGCCGGACTGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGGGGAGGG | CA2654972277 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACGGGGAGGGACGGGGAGGG | CA1022880514 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGGGGAGGG | CA2818093024 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGAGGACGGGGAGGGACGGGGAGGG | CA2654968887 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCTGGTGTCTGAGGACGGGGAGGGACGGGGAGGG | CA2654966256 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCTGGTGTCTGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCTGGTGTCTGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGACTGACGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972251 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGACTGACGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGACTGACGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCTGTCTCTTAAGGACGGGGAGGGACGGGGAGGG | CA2654966266 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCTGTCTCTTAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCTGTCTCTTAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968786 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965387 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGCTGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972281 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGCTGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGCTGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGAGGGATGGGGTGGACGGGGAGGGACGGGGAGGG | CA2654972248 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGAGGGATGGGGTGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGAGGGATGGGGTGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGAGGGGGTGAGGGGAGGG | CA2654965653 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGAGGGGGTGAGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAGGGGGAGGGACGAGGGGGTGAGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970749 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGTGGTGATCCCGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966854 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGTGGTGATCCCGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGTGGTGATCCCGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGG | CA2654965863 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAGGGAGGGGGGGGGAGGGGGAGGGAGGGGGAGGG | CA2654971603 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAGGGAGGGGGGGGGAGGGGGAGGGAGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAGGGAGGGGGGGGGAGGGGGAGGGAGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGCTGATTGGCGGGGAGGGACGGGGAGGG | CA2654965640 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGCTGATTGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGAGGCTGATTGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGAGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970540 | COL6A1 | c.1002+43_1002+44insCGAGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGAGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGGGAGGGACGGGGAGGG | CA2654969697 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971053 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGTGAAGGACGGGGAGGGACGGGGAGGG | CA2654972330 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGTGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGTGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCCCGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970652 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970084 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970661 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGAAGGACGGGGAGGGACGGGGAGGG | CA2654969619 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968677 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGGGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966970 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGGGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGGGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGCAGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972287 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGCAGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGCAGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGACGGGGAGGGACGGGGAGGG | CA2818093042 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880862 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880869 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968661 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGACGGACGGGGAGGGCCGACGGGGAGGGACGGGGAGGG | CA2654971490 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGACGGACGGGGAGGGCCGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGAGGACGGACGGGGAGGGCCGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGTGACTGCTAGGCAGGACGGGGAGGGACGGGGAGGG | CA2654965962 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGTGACTGCTAGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGTGACTGCTAGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972284 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGAAGGACGGGGAGGGACGGGGAGGG | CA2654965385 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968676 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968725 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968829 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGCTGTCTCTTATACACATCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969081 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGCTGTCTCTTATACACATCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGCTGTCTCTTATACACATCTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGAAGGACGGGGAGGGACGGGGAGGG | CA2654965383 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969686 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970669 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972273 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGGGGGAGGGACGGGGAGGG | CA2654965394 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACGGGGGGGGACGGGGAGGG | CA2654965391 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACGGGGAGGGACGGGGAGGG | CA2654965381 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACGGGGAGGGACGGGGAGGG | CA2654969789 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093040 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCATGGGAAGGACGGGGAGAGACAGGGGAAGGACGGGGAGGGCCGGGGAGGG | CA2818093013 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCATGGGAAGGACGGGGAGAGACAGGGGAAGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACCATGGGAAGGACGGGGAGAGACAGGGGAAGGACGGGGAGGGCCGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGAGGAGGGGAGGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967160 | COL6A1 | c.1002+43_1002+44insCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGAGGAGGGGAGGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGAGGAGGGGAGGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972279 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968810 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGGACGGGGCGGGACGGGGAGGG | CA2654965393 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGGACGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGGACGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966618 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGG | CA2654972265 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCAGGGGAAGGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967744 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCAGGGGAAGGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCAGGGGAAGGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGG | CA2654969527 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA1022880196 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA1022880909 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGG | CA2654965594 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGTTGACCAGGGGAAGGACGGGGAGGG | CA2654965606 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGTTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGTTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA1022880885 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGG | CA2654969458 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGCGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970162 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGCGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGCGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970645 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCATGGGAAGGACGGGGAGGG | CA2591412806 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCATGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCATGGGAAGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654971680 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGCGAGGGTGACCAGGGGGAGGAGGGGGAGGGACGGGGGGGGATGGGGGGAGAGGGACGGGGAGGG | CA1022880724 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGCGAGGGTGACCAGGGGGAGGAGGGGGAGGGACGGGGGGGGATGGGGGGAGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGCGAGGGTGACCAGGGGGAGGAGGGGGAGGGACGGGGGGGGATGGGGGGAGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654968907 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGG | CA2654969813 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCATGGGAAGGACGGGGAGGG | CA2654972275 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCATGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCATGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654968635 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2818093047 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970561 | COL6A1 | c.1002+43_1002+44insCGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654971623 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA1022880764 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654968563 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972272 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA1022880222 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654966081 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGTTGGGGTGGACTGTGTGAAGGTGACCAGGGGAGGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967146 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGTTGGGGTGGACTGTGTGAAGGTGACCAGGGGAGGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGTTGGGGTGGACTGTGTGAAGGTGACCAGGGGAGGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTTGACAGTGTGAAGGTGACCAGGGGAAGGACGGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966872 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTTGACAGTGTGAAGGTGACCAGGGGAAGGACGGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTTGACAGTGTGAAGGTGACCAGGGGAAGGACGGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGGGTGAAGGTGACCAGGGGAAGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967977 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGGGTGAAGGTGACCAGGGGAAGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGGGTGAAGGTGACCAGGGGAAGGACGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGAGGACGGGGGGGGACGGGGAGGG | CA2654972269 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGAGGACGGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGAGGACGGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965395 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969824 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972255 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAAGGACGGGGAGGGACGGGGAGGG | CA2654965398 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGGAGGAGGGGGAGGGACGGGGAGGG | CA2654965397 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGGAGGAGGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGGAGGAGGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAAGGACGGGGAGGGACGGGGAGGG | CA2654969884 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGTTGTGGACAGTTTGAAGGTGACCAGGGGAAGGAGTGGGAGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966340 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGTTGTGGACAGTTTGAAGGTGACCAGGGGAAGGAGTGGGAGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGTTGTGGACAGTTTGAAGGTGACCAGGGGAAGGAGTGGGAGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968704 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insTGGGGTGAGGTGATCCCGGCAGGATGGACAGGAAGGAGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967138 | COL6A1 | c.1002+43_1002+44insTGGGGTGAGGTGATCCCGGCAGGATGGACAGGAAGGAGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insTGGGGTGAGGTGATCCCGGCAGGATGGACAGGAAGGAGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGGGTGAAGGTGACCCGGGGACGGACGGGGAGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966398 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGGGTGAAGGTGACCCGGGGACGGACGGGGAGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGGGTGAAGGTGACCCGGGGACGGACGGGGAGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGTGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGTGGGAGGGACGGTGAGTGATGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966940 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGTGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGTGGGAGGGACGGTGAGTGATGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGTGTGGACAGTGTGAAGGTGACCAGGGGGAGGAGTGGGAGGGACGGTGAGTGATGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCTGGGGACGGACGGGGAGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967167 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCTGGGGACGGACGGGGAGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCTGGGGACGGACGGGGAGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGACGGGGAGGGAGGGGGGGAGGTGATCCCGGCAGGAGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2591412783 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGACGGGGAGGGAGGGGGGGAGGTGATCCCGGCAGGAGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGACGGGGAGGGAGGGGGGGAGGTGATCCCGGCAGGAGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGCCAGTGTGAAGGTGACCAGGGGCAGGTCGGGGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971011 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGCCAGTGTGAAGGTGACCAGGGGCAGGTCGGGGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGCCAGTGTGAAGGTGACCAGGGGCAGGTCGGGGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969652 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGAGGGGGGGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971142 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGAGGGGGGGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGGGGGGGAGGGAGGGGGGGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGAACAGGGGAAGGACGGGGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966420 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGAACAGGGGAAGGACGGGGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGAACAGGGGAAGGACGGGGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966402 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970439 | COL6A1 | c.1002+43_1002+44insCAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGAGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGAGGGGGTGGACAGTGGGAAGGTGCCCAGGGGAAGGACGGGGAGGGACGGGGAGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967163 | COL6A1 | c.1002+43_1002+44insGGGAGGGGGTGGACAGTGGGAAGGTGCCCAGGGGAAGGACGGGGAGGGACGGGGAGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGAGGGGGTGGACAGTGGGAAGGTGCCCAGGGGAAGGACGGGGAGGGACGGGGAGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGG | CA2654969184 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGACGGGGAGGG | CA2654969439 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGAGGG | CA2591412803 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGAGGGACGGGGAGGG | CA2654969955 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG | CA2654972264 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2591412753 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG | CA2818093049 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGAGAGAGACGGGGAGGG | CA2654969932 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGAGAGAGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGAGAGAGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965384 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGCGGG | CA2654969179 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGCGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGCGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880278 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGAACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969593 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGAACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGAACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA638178922 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG | CA2654966388 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGTGTGCAGGTGACCCGGGGACGGACGGGGTGGGACGGGGAGGGATGGGGCGAGAAGGACGGGGAGGGACGGGGAGGG | CA2654966683 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGCAGGTGACCCGGGGACGGACGGGGTGGGACGGGGAGGGATGGGGCGAGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGCAGGTGACCCGGGGACGGACGGGGTGGGACGGGGAGGGATGGGGCGAGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880446 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGG | CA2654965592 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG | CA2818092999 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880971 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969634 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGATGGACGGGGAGGG | CA2521177922 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGATGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGATGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGCTTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970131 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGCTTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGCTTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGAAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970600 | COL6A1 | c.1002+43_1002+44insCGGGAAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGAAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970126 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972270 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972237 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGTGAGGG | CA2654969192 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGTGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGTGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969569 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACTGGGAGGG | CA2654969225 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACTGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACTGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGCGGAGGG | CA2654969170 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGCGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGCGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971226 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCACGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880959 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCACGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCACGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2591412808 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insGGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967131 | COL6A1 | c.1002+43_1002+44insGGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTACGGGGAGGG | CA1022880530 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2591412804 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG | CA2654972263 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965609 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880519 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG | CA2654972227 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972271 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965396 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965602 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971703 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969713 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG | CA2818093051 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGTCGGGGAGGG | CA2654969360 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGTCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGTCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880874 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGGGGATGGGGTGGACCGTGGGAAGGTGTCCTGGGGAAGGCCGGGGAGGGACGGGGAGGG | CA2654972236 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGGGGATGGGGTGGACCGTGGGAAGGTGTCCTGGGGAAGGCCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGGGGGATGGGGTGGACCGTGGGAAGGTGTCCTGGGGAAGGCCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG | CA2654969505 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACTGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972267 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG | CA1022880911 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGG | CA2557509366 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093008 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG | CA2654965590 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGAGTGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880557 | COL6A1 | c.1002+43_1002+44insCGGAGTGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGAGTGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880934 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGATCAGGGGAAGGACCGGGAGGGACGGGGAGGG | CA1022880924 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGATCAGGGGAAGGACCGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGATCAGGGGAAGGACCGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGTACGGGGAGGGACGGGGAGGG | CA2818093050 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGTACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGTACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGCAGGG | CA2654972266 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGCAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGCAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTACGGGGAGGG | CA1022880963 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965553 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965389 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCTGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG | CA2654969548 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGCGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCAGGGAGGAGTGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970285 | COL6A1 | c.1002+43_1002+44insCAGGGAGGAGTGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCAGGGAGGAGTGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGTGGGACGGGGAGGG | CA2654972268 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGTGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGTGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGG | CA2654969189 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAGGGATGGGGTGGACAGTGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972211 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAGGGATGGGGTGGACAGTGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGAGGGATGGGGTGGACAGTGTGAATGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG | CA2549200451 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGACGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880881 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970203 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGTGTAGGGACGGGGAGGG | CA2654969486 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGTGTAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGTGTAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880244 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880509 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968695 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA638178920 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972280 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAAGG | CA2504458360 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAAGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAAGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAATGACGGGGAGGGACGGGGAGGG | CA2533427040 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAATGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAATGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG | CA2654969338 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965392 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654969741 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGCCCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACAGGGAGGGACGGGGAGGG | CA2591412801 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACAGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACAGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880179 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG | CA2654969921 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAAGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG | CA2654965595 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880374 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGTG | CA1022880917 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGTG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGTG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGGG | CA2654969315 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGGCAGGGCGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966709 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGGGCGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGGGCGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971118 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG | CA2654965402 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972274 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969665 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG | CA2654969244 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGATGCGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965552 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGATGCGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGGGGATGCGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2499948596 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972282 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093027 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880195 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880894 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965382 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG | CA2654965597 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880603 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGAGGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACGAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965551 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACGAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACGAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971543 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880175 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880346 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972228 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880695 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880491 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880293 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCTGGGGGGTGTCTGCTTGTCAGGGCTTTCCTGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965544 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCTGGGGGGTGTCTGCTTGTCAGGGCTTTCCTGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCCTGGGGGGTGTCTGCTTGTCAGGGCTTTCCTGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880226 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965657 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972332 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGGGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGAGGAGGG | CA1022880443 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGAGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGAGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAGGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967329 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAGGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAGGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880448 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGGG | CA1022880438 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2519847211 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969105 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880189 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGTGTGAAGCTGACCAGGGGAAGGACGGGGAGGGACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971178 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGCTGACCAGGGGAAGGACGGGGAGGGACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGCTGACCAGGGGAAGGACGGGGAGGGACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970008 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGAAGGAGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970972 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGAGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGAGACCAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880386 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965634 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG | CA2654967792 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACAGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880442 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971538 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880159 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880343 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGTGTGGACAGTGTGAAGGTGAACAGGGGGAGGACTGGGAGTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966919 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGTGTGGACAGTGTGAAGGTGAACAGGGGGAGGACTGGGAGTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGTGTGGACAGTGTGAAGGTGAACAGGGGGAGGACTGGGAGTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880637 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCCGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093035 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCCGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCCGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970462 | COL6A1 | c.1002+43_1002+44insCAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGGACGGAGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971043 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACGGAGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACGGAGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCGGGGGCGGGATGGGGTGGGGTGTGCCCGGCCGGCGACGGGGAGGG | CA2654965628 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCGGGGGCGGGATGGGGTGGGGTGTGCCCGGCCGGCGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCGGGGGCGGGATGGGGTGGGGTGTGCCCGGCCGGCGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCTCTTATACACATCTCCGAGCCCACGAGACCTGTAACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971546 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCTCTTATACACATCTCCGAGCCCACGAGACCTGTAACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGCTGTCTCTTATACACATCTCCGAGCCCACGAGACCTGTAACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970695 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGGGTGAGCCCGGCAGGAGGGACCGGGAGGAGTGGGGTGGACGGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966812 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGGGTGAGCCCGGCAGGAGGGACCGGGAGGAGTGGGGTGGACGGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGGGTGAGCCCGGCAGGAGGGACCGGGAGGAGTGGGGTGGACGGTGGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGAGATCCAGGCAGGAGGGTGTGGGCTGGGTGTGGTCGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970641 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGAGATCCAGGCAGGAGGGTGTGGGCTGGGTGTGGTCGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGAGATCCAGGCAGGAGGGTGTGGGCTGGGTGTGGTCGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969760 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGGGGGGGGGACGGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970682 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGGGGGGGGGACGGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGGGGGGGGGACGGTGTGAAGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGAGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970642 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGAGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGAGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969903 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965905 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGCGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965596 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGTAGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093036 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGTAGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGTAGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGGGAAG | CA2654972087 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGGGAAG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGGGAAG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCGGGGAGGGTTGGGTGGGATCTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969021 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCGGGGAGGGTTGGGTGGGATCTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGAGTGAAGGTGACCGGGGAGGGTTGGGTGGGATCTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGATCGGAACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965568 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGATCGGAACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAGATCGGAACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGGCCCGGGGCCGGACGGGGAGGGGCGGGGGGGGGCTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967140 | COL6A1 | c.1002+43_1002+44insCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGGCCCGGGGCCGGACGGGGAGGGGCGGGGGGGGGCTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGCGGGATGGGGTGGACAGTGTGAAGGTGGCCCGGGGCCGGACGGGGAGGGGCGGGGGGGGGCTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGTCGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGGGGGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2548678424 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGTCGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGGGGGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGTCGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGGGGGAGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965604 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTTGGAAGGTGACCAGGGGGGGGTCAGGGCGGGACAGGGAGTGATGGTGAGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654968149 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTGGAAGGTGACCAGGGGGGGGTCAGGGCGGGACAGGGAGTGATGGTGAGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTTGGAAGGTGACCAGGGGGGGGTCAGGGCGGGACAGGGAGTGATGGTGAGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGTCGGACGGGGAGCGCCGGGGAGGGATGGGGCGAGAGGGGGCGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967573 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGTCGGACGGGGAGCGCCGGGGAGGGATGGGGCGAGAGGGGGCGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGACGGTGACCCGGGGTCGGACGGGGAGCGCCGGGGAGGGATGGGGCGAGAGGGGGCGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGTCTGGGAGGCAGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880164 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGTCTGGGAGGCAGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGGGGTCTGGGAGGCAGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971004 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093041 | COL6A1 | c.1002+43_1002+44insCGGGGAGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654972054 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971876 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGAAGGACGGGGAGGGACGGGGAGGG | CA2654965399 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969678 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGCTGGGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971209 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGCTGGGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGCTGGGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGTGGGAGGGACTGGGAGTGATGGGGCGAGATGGGGGGGCACGGAGTGGACGGGGAGGGACGGGGAGGG | CA2654966181 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGTGGGAGGGACTGGGAGTGATGGGGCGAGATGGGGGGGCACGGAGTGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGAGTGGGAGGGACTGGGAGTGATGGGGCGAGATGGGGGGGCACGGAGTGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965591 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965585 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insGGGGGAGGGATGGGGTGGACCGGGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967133 | COL6A1 | c.1002+43_1002+44insGGGGGAGGGATGGGGTGGACCGGGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insGGGGGAGGGATGGGGTGGACCGGGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGGGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGGTGGGGCGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966799 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGGGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGGTGGGGCGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGGGGGGTGGACAGGGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGGTGGGGCGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093028 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGAGGGGGAGGGACGGAGTGGACGGCGGGGAGGGACGGGGAGGG | CA2654968516 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGAGGGGGAGGGACGGAGTGGACGGCGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGAGGGGGAGGGACGGAGTGGACGGCGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGGAGGACGGGGTGGGAGGGGGCGGGATGGGGGGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967811 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGGAGGACGGGGTGGGAGGGGGCGGGATGGGGGGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGGAGGACGGGGTGGGAGGGGGCGGGATGGGGGGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093034 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCCCTGCAGGAGGGCCAGGGAGGAGTGGGGTGGAGGGTGGGAAGGTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970777 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCTGCAGGAGGGCCAGGGAGGAGTGGGGTGGAGGGTGGGAAGGTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCTGCAGGAGGGCCAGGGAGGAGTGGGGTGGAGGGTGGGAAGGTGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGG | CA2654969274 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGAGACGGGGAGGGATGGGGAGAGATGGGGAGGGCCGGAGTGGCCGGCGTGAAGAGGGACGGGGAGGG | CA2654965624 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGAGACGGGGAGGGATGGGGAGAGATGGGGAGGGCCGGAGTGGCCGGCGTGAAGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGAGACGGGGAGGGATGGGGAGAGATGGGGAGGGCCGGAGTGGCCGGCGTGAAGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966427 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACGAGGGGACGGAGGGGGAGGGACGGGGAGGCCTGGGGCGGGCTGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970261 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACGAGGGGACGGAGGGGGAGGGACGGGGAGGCCTGGGGCGGGCTGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACGAGGGGACGGAGGGGGAGGGACGGGGAGGCCTGGGGCGGGCTGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971847 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGGGTGAAGGTGAGCAGGGGAAGGGCGGGGAGGGACGGGGAGGGAGGGGGCGGGGGGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA1022880674 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGGGTGAAGGTGAGCAGGGGAAGGGCGGGGAGGGACGGGGAGGGAGGGGGCGGGGGGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGGGTGAAGGTGAGCAGGGGAAGGGCGGGGAGGGACGGGGAGGGAGGGGGCGGGGGGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969419 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969161 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGGGTGAAGGTGAGCAGGGGCAGGACGGGGAGGGACGGGGCGGGATGGGGCGCGATGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093022 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGGGTGAAGGTGAGCAGGGGCAGGACGGGGAGGGACGGGGCGGGATGGGGCGCGATGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGGGTGAAGGTGAGCAGGGGCAGGACGGGGAGGGACGGGGCGGGATGGGGCGCGATGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966636 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969388 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971850 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969208 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2522641735 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGCGGGACGGGGTGGGCTGGGGCGCGGTGGGGGGGGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966469 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGCGGGACGGGGTGGGCTGGGGCGCGGTGGGGGGGGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGCAGGACGGGGCGGGACGGGGTGGGCTGGGGCGCGGTGGGGGGGGGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965600 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093029 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654966759 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGGCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGTGGAAGGACTGGGAGGGACGGGGAGGGAAGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGGAAGGACGGGGAGGGACGGGGAGGG | CA2818093045 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGTGGAAGGACTGGGAGGGACGGGGAGGGAAGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGAGACCAGTGGAAGGACTGGGAGGGACGGGGAGGGAAGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGGAAGGACGGGGAGGGACGGGGAGGG)
| |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965400 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965599 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967652 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970059 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654970033 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGGTGGGGTGGGCAGTGTGAAGGTGACCAGGGGGAGGGGGGGGAGGGGCGGGGAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654967144 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGGTGGGGTGGGCAGTGTGAAGGTGACCAGGGGGAGGGGGGGGAGGGGCGGGGAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGGTGGGGTGGGCAGTGTGAAGGTGACCAGGGGGAGGGGGGGGAGGGGCGGGGAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969295 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654968868 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971073 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969150 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654968685 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACCGGGCGCAGTGGGGGGGCCGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654970635 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACCGGGCGCAGTGGGGGGGCCGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACCGGGCGCAGTGGGGGGGCCGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654968656 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654972234 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGGTGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654971963 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGGTGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGGTGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654968924 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGAGCAGGGGAGGGGCGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654971240 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGAGCAGGGGAGGGGCGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGAGCAGGGGAGGGGCGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA1022880210 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAAGGACGGGGAGGGACGGGGAGGG | CA2654965598 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGTAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654965588 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGTGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654971849 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGTGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGTGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654965589 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654969175 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG | CA2654965586 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990465_45990466insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG | CA2654969989 | COL6A1 | c.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG (n.1002+43_1002+44insCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990466A= | CA2392434202 | COL6A1 | c.1002+44A= (n.1002+44A=)
| |
21 | g.45990466A>C | CA2515757289 | COL6A1 | c.1002+44A>C (n.1002+44A>C)
| gnomAD v4 |
21 | g.45990466A>G | CA1022880275 | COL6A1 | c.1002+44A>G (n.1002+44A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990466A>T | CA2577628511 | COL6A1 | c.1002+44A>T (n.1002+44A>T)
| gnomAD v4 |
21 | g.45990466_45990467insCGGGGAGGGA | CA2654970306 | COL6A1 | c.1002+44_1002+45insCGGGGAGGGA (n.1002+44_1002+45insCGGGGAGGGA)
| gnomAD v4 |
21 | g.45990466_45990467insGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA | CA2654970326 | COL6A1 | c.1002+44_1002+45insGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA (n.1002+44_1002+45insGGGGAGGGATGGGGTGGACAGTGGGACGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA)
| gnomAD v4 |
21 | g.45990466_45990467insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA | CA2654970309 | COL6A1 | c.1002+44_1002+45insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA (n.1002+44_1002+45insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA)
| gnomAD v4 |
21 | g.45990466_45990467del | CA1022880269 | COL6A1 | c.1002+44_1002+45del (n.1002+44_1002+45del)
| gnomAD v3 gnomAD v4 |
21 | g.45990466_45990471delinsATGGGG | CA2392434200 | COL6A1 | c.1002+44_1002+49delinsATGGGG (n.1002+44_1002+49delinsATGGGG)
| |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA2591412776 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990466_45990478del | CA1022880272 | COL6A1 | c.1002+44_1002+56del (n.1002+44_1002+56del)
| gnomAD v3 gnomAD v4 |
21 | g.45990481_45990482insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG | CA2654970391 | COL6A1 | c.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG (n.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG)
| gnomAD v4 |
21 | g.45990481_45990482insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG | CA2654970387 | COL6A1 | c.1002+59_1002+60insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG (n.1002+59_1002+60insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG)
| gnomAD v4 |
21 | g.45990472_45990481del | CA410522811 | COL6A1 | c.1002+50_1002+59del (n.1002+50_1002+59del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990496_45990497insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC | CA2654970349 | COL6A1 | c.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC (n.1002+74_1002+75insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGAC)
| gnomAD v4 |
21 | g.45990466_45990511delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC | CA2392434201 | COL6A1 | c.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)
| |
21 | g.45990511_45990512insAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC | CA2654970375 | COL6A1 | c.1002+89_1002+90insAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+89_1002+90insAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990526_45990527insGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG | CA2654970376 | COL6A1 | c.1002+104_1002+105insGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG (n.1002+104_1002+105insGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG)
| gnomAD v4 |
21 | g.45990472_45990526del | CA10070003 | COL6A1 | c.1002+50_1002+104del (n.1002+50_1002+104del)
| ExAC gnomAD v4 |
21 | g.45990533_45990534insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG | CA2654970377 | COL6A1 | c.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG)
| gnomAD v4 |
21 | g.45990533_45990534insCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG | CA2591412799 | COL6A1 | c.1002+111_1002+112insCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG)
| gnomAD v3 gnomAD v4 |
21 | g.45990546_45990547insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC | CA1022880802 | COL6A1 | c.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v3 gnomAD v4 |
21 | g.45990472_45990581dup | CA2654970381 | COL6A1 | c.1002+50_1002+159dup (n.1002+50_1002+159dup)
| gnomAD v4 |
21 | g.45990472_45990581del | CA1022880273 | COL6A1 | c.1002+50_1002+159del (n.1002+50_1002+159del)
| gnomAD v3 gnomAD v4 |
21 | g.45990466_45990467insGG | CA2654972342 | COL6A1 | c.1002+44_1002+45insGG (n.1002+44_1002+45insGG)
| gnomAD v4 |
21 | g.45990466_45990467insCGGGGAGGGC | CA2654972344 | COL6A1 | c.1002+44_1002+45insCGGGGAGGGC (n.1002+44_1002+45insCGGGGAGGGC)
| gnomAD v4 |
21 | g.45990466_45990467insGGTGACCAGGGGAAGGACAGGGAGGGACGAGGAGGAC | CA2818093054 | COL6A1 | c.1002+44_1002+45insGGTGACCAGGGGAAGGACAGGGAGGGACGAGGAGGAC (n.1002+44_1002+45insGGTGACCAGGGGAAGGACAGGGAGGGACGAGGAGGAC)
| |
21 | g.45990466_45990467insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG | CA1022881029 | COL6A1 | c.1002+44_1002+45insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG (n.1002+44_1002+45insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990466_45990467insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC | CA1022881053 | COL6A1 | c.1002+44_1002+45insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC (n.1002+44_1002+45insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC)
| gnomAD v3 gnomAD v4 |
21 | g.45990466_45990467insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAG | CA2538934010 | COL6A1 | c.1002+44_1002+45insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAG (n.1002+44_1002+45insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAG)
| |
21 | g.45990466_45990467insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGCGGGC | CA2654972345 | COL6A1 | c.1002+44_1002+45insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGCGGGC (n.1002+44_1002+45insGGTGACCAGGGGAAGGACGGGGAGGGACGGGGCGGGC)
| gnomAD v4 |
21 | g.45990466_45990467insGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGGG | CA2818093052 | COL6A1 | c.1002+44_1002+45insGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGGG (n.1002+44_1002+45insGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGGG)
| |
21 | g.45990466_45990467insGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGGC | CA2654972350 | COL6A1 | c.1002+44_1002+45insGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGGC (n.1002+44_1002+45insGGTGACCAGGGGCAGGACGGGGAGGGACGGGGAGGGC)
| gnomAD v4 |
21 | g.45990466_45990467insGGTGACCAGGGGAAGGCCGGGGAGGGCCGGGGAGGGC | CA2654972346 | COL6A1 | c.1002+44_1002+45insGGTGACCAGGGGAAGGCCGGGGAGGGCCGGGGAGGGC (n.1002+44_1002+45insGGTGACCAGGGGAAGGCCGGGGAGGGCCGGGGAGGGC)
| gnomAD v4 |
21 | g.45990466_45990467insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC | CA2654972349 | COL6A1 | c.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC (n.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC)
| gnomAD v4 |
21 | g.45990466_45990467insGGTGACCAGGGGAAGGAGGCTGCGGGACGGGGAGGTC | CA2818093053 | COL6A1 | c.1002+44_1002+45insGGTGACCAGGGGAAGGAGGCTGCGGGACGGGGAGGTC (n.1002+44_1002+45insGGTGACCAGGGGAAGGAGGCTGCGGGACGGGGAGGTC)
| |
21 | g.45990466_45990467insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC | CA2654972343 | COL6A1 | c.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC (n.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC)
| gnomAD v4 |
21 | g.45990466_45990467insGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGGG | CA2654972347 | COL6A1 | c.1002+44_1002+45insGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGGG (n.1002+44_1002+45insGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGGG)
| gnomAD v4 |
21 | g.45990466_45990467insGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGGAC | CA2654972338 | COL6A1 | c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGGAC (n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGGAC)
| gnomAD v4 |
21 | g.45990466_45990467insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG | CA2523274247 | COL6A1 | c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG (n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG)
| |
21 | g.45990466_45990467insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGC | CA2654972341 | COL6A1 | c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGC (n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGC)
| gnomAD v4 |
21 | g.45990466_45990467insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGGAC | CA2818093055 | COL6A1 | c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGGAC (n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGGAC)
| |
21 | g.45990466_45990467insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC | CA2654972348 | COL6A1 | c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC (n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC)
| gnomAD v4 |
21 | g.45990466_45990467insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG | CA1022881056 | COL6A1 | c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG (n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990467del | CA1022881052 | COL6A1 | c.1002+45del (n.1002+45del)
| gnomAD v3 gnomAD v4 |
21 | g.45990467T>A | CA2654972340 | COL6A1 | c.1002+45T>A (n.1002+45T>A)
| gnomAD v4 |
21 | g.45990467T>C | CA147304 | COL6A1 | c.1002+45T>C (n.1002+45T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990467T>G | CA638178923 | COL6A1 | c.1002+45T>G (n.1002+45T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990467T= | CA2392434206 | COL6A1 | c.1002+45T= (n.1002+45T=)
| |
21 | g.45990467_45990471del | CA10070006 | COL6A1 | c.1002+45_1002+49del (n.1002+45_1002+49del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990467_45990474delinsTGGGGCGA | CA2392434204 | COL6A1 | c.1002+45_1002+52delinsTGGGGCGA (n.1002+45_1002+52delinsTGGGGCGA)
| |
21 | g.45990467_45990475delinsTGGGGCGAG | CA2392434205 | COL6A1 | c.1002+45_1002+53delinsTGGGGCGAG (n.1002+45_1002+53delinsTGGGGCGAG)
| |
21 | g.45990467_45990478del | CA2654972339 | COL6A1 | c.1002+45_1002+56del (n.1002+45_1002+56del)
| gnomAD v4 |
21 | g.45990467_45990479del | CA638178924 | COL6A1 | c.1002+45_1002+57del (n.1002+45_1002+57del)
| gnomAD v2 gnomAD v4 |
21 | g.45990467_45990511del | CA512713596 | COL6A1 | c.1002+45_1002+89del (n.1002+45_1002+89del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990467_45990512delinsTGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC | CA2392434203 | COL6A1 | c.1002+45_1002+90delinsTGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC (n.1002+45_1002+90delinsTGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC)
| |
21 | g.45990467_45990559del | CA1022881037 | COL6A1 | c.1002+45_1002+137del (n.1002+45_1002+137del)
| gnomAD v3 gnomAD v4 |
21 | g.45990468G>A | CA10070010 | COL6A1 | c.1002+46G>A (n.1002+46G>A)
| dbSNP ExAC |
21 | g.45990468G>C | CA2654972353 | COL6A1 | c.1002+46G>C (n.1002+46G>C)
| gnomAD v4 |
21 | g.45990468G= | CA2392434207 | COL6A1 | c.1002+46G= (n.1002+46G=)
| |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGG | CA638178925 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGG)
| gnomAD v2 gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGGAGGGGG | CA2818093058 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGGAGGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGGGGGAGGGGG)
| |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGGAGGGGG | CA2818093057 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGGAGGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGAGGGAGGGGG)
| |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGGAGGGGG | CA2654972366 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGGAGGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGCCGGGGAGGGAGGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGG | CA1022881063 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGACGGGG | CA2654972365 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGACGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGACGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGTGAAGGACGGGGAGGGACGGGGAGGGAGGGGG | CA2654972371 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGTGAAGGACGGGGAGGGACGGGGAGGGAGGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGTGAAGGACGGGGAGGGACGGGGAGGGAGGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGGCAGTGGGGAGGTGACCAGGGGAAGGACGGGGGGGGGGGGGGGGGGAGGGGG | CA2654972362 | COL6A1 | c.1002+49_1002+50insTGGGCAGTGGGGAGGTGACCAGGGGAAGGACGGGGGGGGGGGGGGGGGGAGGGGG (n.1002+49_1002+50insTGGGCAGTGGGGAGGTGACCAGGGGAAGGACGGGGGGGGGGGGGGGGGGAGGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGGGGGAGGGGG | CA2654972367 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGGGGGAGGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGGCGGGGGGGGAGGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGCAGGGG | CA2818093056 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGCAGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGCAGGGG)
| |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG | CA2654972368 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGGGGGGG | CA2818093059 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGGGGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGGGGGGG)
| |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGAGGGAGGGGG | CA2654972370 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGAGGGAGGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGACGGACGGGGAGGGCCGGGGAGGGAGGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGAGAGGGGAGGGAGGGGGAGGGAGGGGG | CA2654972369 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGAGAGGGGAGGGAGGGGGAGGGAGGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGAGAGGGGAGGGAGGGGGAGGGAGGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGG | CA2654972364 | COL6A1 | c.1002+49_1002+50insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGG (n.1002+49_1002+50insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAGGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGG | CA2654972372 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGG | CA2654972352 | COL6A1 | c.1002+49_1002+50insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGG (n.1002+49_1002+50insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGG | CA2654972373 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGG | CA2654972351 | COL6A1 | c.1002+49_1002+50insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGG (n.1002+49_1002+50insTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGG)
| gnomAD v4 |
21 | g.45990471del | CA2654972363 | COL6A1 | c.1002+49del (n.1002+49del)
| gnomAD v4 |
21 | g.45990470_45990471del | CA2654972361 | COL6A1 | c.1002+48_1002+49del (n.1002+48_1002+49del)
| gnomAD v4 |
21 | g.45990468_45990474delinsGGGGCGA | CA2392434208 | COL6A1 | c.1002+46_1002+52delinsGGGGCGA (n.1002+46_1002+52delinsGGGGCGA)
| |
21 | g.45990468_45990475del | CA10070008 | COL6A1 | c.1002+46_1002+53del (n.1002+46_1002+53del)
| dbSNP ExAC gnomAD v4 |
21 | g.45990469_45990475del | CA10070009 | COL6A1 | c.1002+47_1002+53del (n.1002+47_1002+53del)
| dbSNP ExAC gnomAD v4 |
21 | g.45990468_45990481del | CA2654972359 | COL6A1 | c.1002+46_1002+59del (n.1002+46_1002+59del)
| gnomAD v4 |
21 | g.45990470_45990481del | CA1022881066 | COL6A1 | c.1002+48_1002+59del (n.1002+48_1002+59del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990469_45990481del | CA2654972360 | COL6A1 | c.1002+47_1002+59del (n.1002+47_1002+59del)
| gnomAD v4 |
21 | g.45990471_45990485del | CA2654972358 | COL6A1 | c.1002+49_1002+63del (n.1002+49_1002+63del)
| gnomAD v4 |
21 | g.45990472_45990516del | CA10070007 | COL6A1 | c.1002+50_1002+94del (n.1002+50_1002+94del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990471_45990520del | CA2654972357 | COL6A1 | c.1002+49_1002+98del (n.1002+49_1002+98del)
| gnomAD v4 |
21 | g.45990470_45990561del | CA2654972356 | COL6A1 | c.1002+48_1002+139del (n.1002+48_1002+139del)
| gnomAD v4 |
21 | g.45990471_45990565del | CA2654972355 | COL6A1 | c.1002+49_1002+143del (n.1002+49_1002+143del)
| gnomAD v4 |
21 | g.45990472_45990571del | CA2516097887 | COL6A1 | c.1002+50_1002+149del (n.1002+50_1002+149del)
| gnomAD v3 gnomAD v4 |
21 | g.45990471_45990575del | CA2654972354 | COL6A1 | c.1002+49_1002+153del (n.1002+49_1002+153del)
| gnomAD v4 |
21 | g.45990468_45990469insAC | CA2654972378 | COL6A1 | c.1002+46_1002+47insAC (n.1002+46_1002+47insAC)
| gnomAD v4 |
21 | g.45990468_45990469insCGGAGCCGGGGGTCCCCC | CA638178926 | COL6A1 | c.1002+46_1002+47insCGGAGCCGGGGGTCCCCC (n.1002+46_1002+47insCGGAGCCGGGGGTCCCCC)
| dbSNP gnomAD v2 |
21 | g.45990469G>A | CA1022881085 | COL6A1 | c.1002+47G>A (n.1002+47G>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990469G>T | CA2654972375 | COL6A1 | c.1002+47G>T (n.1002+47G>T)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATAGGG | CA2654972374 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATAGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATAGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATTGGG | CA2654972376 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATTGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATTGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGAGACCAGGGGAAGGACTGGGAGGGACGGGGAGGGATCGGG | CA2654972377 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGAGACCAGGGGAAGGACTGGGAGGGACGGGGAGGGATCGGG (n.1002+49_1002+50insTGGACAGTGTGAAGGAGACCAGGGGAAGGACTGGGAGGGACGGGGAGGGATCGGG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGCCGGCGGG | CA2818093060 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGCCGGCGGG (n.1002+49_1002+50insTGGACAGTGTGGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGCCGGCGGG)
| |
21 | g.45990470_45990475del | CA10070011 | COL6A1 | c.1002+48_1002+53del (n.1002+48_1002+53del)
| dbSNP ExAC gnomAD v4 |
21 | g.45990469_45990510del | CA2550368243 | COL6A1 | c.1002+47_1002+88del (n.1002+47_1002+88del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990470G>A | CA2577628512 | COL6A1 | c.1002+48G>A (n.1002+48G>A)
| gnomAD v4 |
21 | g.45990470G= | CA2392434211 | COL6A1 | c.1002+48G= (n.1002+48G=)
| |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGTGG | CA2591412815 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGTGG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGTGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990471_45990473del | CA2654972379 | COL6A1 | c.1002+49_1002+51del (n.1002+49_1002+51del)
| gnomAD v4 |
21 | g.45990470_45990474delinsGGCGA | CA2392434210 | COL6A1 | c.1002+48_1002+52delinsGGCGA (n.1002+48_1002+52delinsGGCGA)
| |
21 | g.45990471_45990475del | CA2529061076 | COL6A1 | c.1002+49_1002+53del (n.1002+49_1002+53del)
| gnomAD v4 |
21 | g.45990470_45990476del | CA2654972380 | COL6A1 | c.1002+48_1002+54del (n.1002+48_1002+54del)
| gnomAD v4 |
21 | g.45990470_45990490delinsGGCGAGATGGGGAGGGACGGA | CA2392434209 | COL6A1 | c.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGGA (n.1002+48_1002+68delinsGGCGAGATGGGGAGGGACGGA)
| |
21 | g.45990471G>A | CA10070015 | COL6A1 | c.1002+49G>A (n.1002+49G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990471G>C | CA2654972383 | COL6A1 | c.1002+49G>C (n.1002+49G>C)
| gnomAD v4 |
21 | g.45990471G= | CA2392434212 | COL6A1 | c.1002+49G= (n.1002+49G=)
| |
21 | g.45990471G>T | CA2654972382 | COL6A1 | c.1002+49G>T (n.1002+49G>T)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAG | CA638178927 | COL6A1 | c.1002+49_1002+50insTGGACAG (n.1002+49_1002+50insTGGACAG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAG | CA2654972385 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGTG | CA2654972381 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGTG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGTG)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGAG | CA2654972384 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGAG (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGAG)
| gnomAD v4 |
21 | g.45990472_45990473del | CA1022881093 | COL6A1 | c.1002+50_1002+51del (n.1002+50_1002+51del)
| gnomAD v3 gnomAD v4 |
21 | g.45990472_45990475del | CA10070013 | COL6A1 | c.1002+50_1002+53del (n.1002+50_1002+53del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990472_45990491del | CA10070012 | COL6A1 | c.1002+50_1002+69del (n.1002+50_1002+69del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990471_45990472insA | CA2818093061 | COL6A1 | c.1002+49_1002+50insA (n.1002+49_1002+50insA)
| |
21 | g.45990471_45990472insTGGA | CA638178928 | COL6A1 | c.1002+49_1002+50insTGGA (n.1002+49_1002+50insTGGA)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990471_45990472insAGGGA | CA10070014 | COL6A1 | c.1002+49_1002+50insAGGGA (n.1002+49_1002+50insAGGGA)
| dbSNP ExAC |
21 | g.45990471_45990472insTGAGGTGATCC | CA2654972392 | COL6A1 | c.1002+49_1002+50insTGAGGTGATCC (n.1002+49_1002+50insTGAGGTGATCC)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGAC | CA638178929 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGAC (n.1002+49_1002+50insTGGACAGTGTGAAGGTGAC)
| gnomAD v2 |
21 | g.45990471_45990472insTGGGGTGTTGCCGGCAGGTGGGCC | CA2654972388 | COL6A1 | c.1002+49_1002+50insTGGGGTGTTGCCGGCAGGTGGGCC (n.1002+49_1002+50insTGGGGTGTTGCCGGCAGGTGGGCC)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGT | CA2654972390 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGT (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGT)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGA | CA2654972391 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGA (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGA)
| gnomAD v4 |
21 | g.45990471_45990472insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA | CA2654972389 | COL6A1 | c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA (n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA)
| gnomAD v4 |
21 | g.45990472del | CA2818093062 | COL6A1 | c.1002+50del (n.1002+50del)
| |
21 | g.45990472C>A | CA147305 | COL6A1 | c.1002+50C>A (n.1002+50C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45990472C= | CA2392434213 | COL6A1 | c.1002+50C= (n.1002+50C=)
| |
21 | g.45990472C>G | CA1022881118 | COL6A1 | c.1002+50C>G (n.1002+50C>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990472C>T | CA147306 | COL6A1 | c.1002+50C>T (n.1002+50C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990472_45990476del | CA2654972386 | COL6A1 | c.1002+50_1002+54del (n.1002+50_1002+54del)
| gnomAD v4 |
21 | g.45990472_45990477del | CA2591412822 | COL6A1 | c.1002+50_1002+55del (n.1002+50_1002+55del)
| gnomAD v3 gnomAD v4 |
21 | g.45990472_45990477delinsCGAGAT | CA2392434214 | COL6A1 | c.1002+50_1002+55delinsCGAGAT (n.1002+50_1002+55delinsCGAGAT)
| |
21 | g.45990472_45990490del | CA2654972387 | COL6A1 | c.1002+50_1002+68del (n.1002+50_1002+68del)
| gnomAD v4 |
21 | g.45990472_45990473insAGCGT | CA1022881124 | COL6A1 | c.1002+50_1002+51insAGCGT (n.1002+50_1002+51insAGCGT)
| gnomAD v3 gnomAD v4 |
21 | g.45990472_45990473insAGTGT | CA1022881129 | COL6A1 | c.1002+50_1002+51insAGTGT (n.1002+50_1002+51insAGTGT)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990472_45990473insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA | CA2654972401 | COL6A1 | c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA (n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA)
| gnomAD v4 |
21 | g.45990472_45990473insCAGTGTGAAGGTGACCAGGGGACGGCCGGGGCGGGACGGGGTGGGGGGGT | CA2654972407 | COL6A1 | c.1002+50_1002+51insCAGTGTGAAGGTGACCAGGGGACGGCCGGGGCGGGACGGGGTGGGGGGGT (n.1002+50_1002+51insCAGTGTGAAGGTGACCAGGGGACGGCCGGGGCGGGACGGGGTGGGGGGGT)
| gnomAD v4 |
21 | g.45990472_45990473insAGTGTGAAGGTGACCAGGGGAGGGGGGGGGAGGGACGGGGAGGGGGGGGGT | CA2550134555 | COL6A1 | c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAGGGGGGGGGAGGGACGGGGAGGGGGGGGGT (n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAGGGGGGGGGAGGGACGGGGAGGGGGGGGGT)
| |
21 | g.45990472_45990473insAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGGGGGGGGT | CA2654972406 | COL6A1 | c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGGGGGGGGT (n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGGAGGACGGGGAGGGACGGGGAGGGGGGGGGT)
| gnomAD v4 |
21 | g.45990472_45990473insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGT | CA2654972404 | COL6A1 | c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGT (n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGT)
| gnomAD v4 |
21 | g.45990472_45990473insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGAT | CA2654972405 | COL6A1 | c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGAT (n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGAT)
| gnomAD v4 |
21 | g.45990472_45990473insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAAGGGGA | CA2654972402 | COL6A1 | c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAAGGGGA (n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAAGGGGA)
| gnomAD v4 |
21 | g.45990472_45990473insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG | CA2654972403 | COL6A1 | c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG (n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG)
| gnomAD v4 |
21 | g.45990472_45990473insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGT | CA638178930 | COL6A1 | c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGT (n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGT)
| gnomAD v2 |
21 | g.45990472_45990473insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA | CA2654972399 | COL6A1 | c.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA (n.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA)
| gnomAD v4 |
21 | g.45990473G>A | CA10070018 | COL6A1 | c.1002+51G>A (n.1002+51G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990473G>C | CA2654972396 | COL6A1 | c.1002+51G>C (n.1002+51G>C)
| gnomAD v4 |
21 | g.45990473G= | CA2392434215 | COL6A1 | c.1002+51G= (n.1002+51G=)
| |
21 | g.45990473G>T | CA2577628513 | COL6A1 | c.1002+51G>T (n.1002+51G>T)
| gnomAD v4 |
21 | g.45990473_45990474insGCGTG | CA1022881133 | COL6A1 | c.1002+51_1002+52insGCGTG (n.1002+51_1002+52insGCGTG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990473_45990476del | CA2654972393 | COL6A1 | c.1002+51_1002+54del (n.1002+51_1002+54del)
| gnomAD v4 |
21 | g.45990474_45990478del | CA10070016 | COL6A1 | c.1002+52_1002+56del (n.1002+52_1002+56del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45990474_45990479del | CA1022881134 | COL6A1 | c.1002+52_1002+57del (n.1002+52_1002+57del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990474_45990480del | CA1022881135 | COL6A1 | c.1002+52_1002+58del (n.1002+52_1002+58del)
| gnomAD v3 gnomAD v4 |
21 | g.45990473_45990481del | CA2591412827 | COL6A1 | c.1002+51_1002+59del (n.1002+51_1002+59del)
| gnomAD v3 gnomAD v4 |
21 | g.45990481_45990482insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGG | CA2818093065 | COL6A1 | c.1002+59_1002+60insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGG (n.1002+59_1002+60insTGGACAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGG)
| |
21 | g.45990506_45990507insAGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGG | CA2654972408 | COL6A1 | c.1002+84_1002+85insAGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGG (n.1002+84_1002+85insAGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGG)
| gnomAD v4 |
21 | g.45990511_45990512insGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC | CA2654972400 | COL6A1 | c.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990511_45990512insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC | CA2818093064 | COL6A1 | c.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)
| |
21 | g.45990512_45990513insAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC | CA2654972409 | COL6A1 | c.1002+90_1002+91insAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC (n.1002+90_1002+91insAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC)
| gnomAD v4 |
21 | g.45990516_45990517insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG | CA2818093063 | COL6A1 | c.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG (n.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG)
| |
21 | g.45990556_45990557insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA | CA2654972398 | COL6A1 | c.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA (n.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA)
| gnomAD v4 |
21 | g.45990474_45990560del | CA2654972394 | COL6A1 | c.1002+52_1002+138del (n.1002+52_1002+138del)
| gnomAD v4 |
21 | g.45990474_45990563del | CA2591412826 | COL6A1 | c.1002+52_1002+141del (n.1002+52_1002+141del)
| gnomAD v3 gnomAD v4 |
21 | g.45990473_45990566del | CA2654972395 | COL6A1 | c.1002+51_1002+144del (n.1002+51_1002+144del)
| gnomAD v4 |
21 | g.45990476_45990585dup | CA2654972397 | COL6A1 | c.1002+54_1002+163dup (n.1002+54_1002+163dup)
| gnomAD v4 |
21 | g.45990473_45990474insGAC | CA10070017 | COL6A1 | c.1002+51_1002+52insGAC (n.1002+51_1002+52insGAC)
| dbSNP ExAC gnomAD v4 |
21 | g.45990473_45990474insTGA | CA1022881147 | COL6A1 | c.1002+51_1002+52insTGA (n.1002+51_1002+52insTGA)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990473_45990474insGCGTGA | CA2654972411 | COL6A1 | c.1002+51_1002+52insGCGTGA (n.1002+51_1002+52insGCGTGA)
| gnomAD v4 |
21 | g.45990473_45990474insGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA | CA638178932 | COL6A1 | c.1002+51_1002+52insGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA (n.1002+51_1002+52insGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA)
| gnomAD v2 |
21 | g.45990474del | CA638178931 | COL6A1 | c.1002+52del (n.1002+52del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990474A= | CA2392434216 | COL6A1 | c.1002+52A= (n.1002+52A=)
| |
21 | g.45990474A>C | CA1022881144 | COL6A1 | c.1002+52A>C (n.1002+52A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990474A>G | CA10070020 | COL6A1 | c.1002+52A>G (n.1002+52A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990474A>T | CA2392434219 | COL6A1 | c.1002+52A>T (n.1002+52A>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990474_45990476del | CA2654972410 | COL6A1 | c.1002+52_1002+54del (n.1002+52_1002+54del)
| gnomAD v4 |
21 | g.45990474_45990477del | CA1022881146 | COL6A1 | c.1002+52_1002+55del (n.1002+52_1002+55del)
| gnomAD v3 gnomAD v4 |
21 | g.45990474_45990479delinsAGATGG | CA2392434218 | COL6A1 | c.1002+52_1002+57delinsAGATGG (n.1002+52_1002+57delinsAGATGG)
| |
21 | g.45990474_45990511delinsAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC | CA2392434217 | COL6A1 | c.1002+52_1002+89delinsAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+52_1002+89delinsAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)
| |
21 | g.45990474_45990475insAGGTGACCGGGGAGG | CA1022881160 | COL6A1 | c.1002+52_1002+53insAGGTGACCGGGGAGG (n.1002+52_1002+53insAGGTGACCGGGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990474_45990475insAGGTGACCAGGGGAAG | CA1022881168 | COL6A1 | c.1002+52_1002+53insAGGTGACCAGGGGAAG (n.1002+52_1002+53insAGGTGACCAGGGGAAG)
| gnomAD v3 gnomAD v4 |
21 | g.45990474_45990475insAGGTGACCAGGGGGAG | CA2654972416 | COL6A1 | c.1002+52_1002+53insAGGTGACCAGGGGGAG (n.1002+52_1002+53insAGGTGACCAGGGGGAG)
| gnomAD v4 |
21 | g.45990474_45990475insAGGTGACCCGGGGAGG | CA1022881165 | COL6A1 | c.1002+52_1002+53insAGGTGACCCGGGGAGG (n.1002+52_1002+53insAGGTGACCCGGGGAGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990474_45990475insAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG | CA1022881152 | COL6A1 | c.1002+52_1002+53insAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG (n.1002+52_1002+53insAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990474_45990475insAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG | CA2591412830 | COL6A1 | c.1002+52_1002+53insAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG (n.1002+52_1002+53insAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990475G>C | CA1022881155 | COL6A1 | c.1002+53G>C (n.1002+53G>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990475G>T | CA2654972412 | COL6A1 | c.1002+53G>T (n.1002+53G>T)
| gnomAD v4 |
21 | g.45990475_45990476insGTG | CA1022881159 | COL6A1 | c.1002+53_1002+54insGTG (n.1002+53_1002+54insGTG)
| gnomAD v3 gnomAD v4 |
21 | g.45990475_45990476insGAGGGACGGGGAGGG | CA2654972417 | COL6A1 | c.1002+53_1002+54insGAGGGACGGGGAGGG (n.1002+53_1002+54insGAGGGACGGGGAGGG)
| gnomAD v4 |
21 | g.45990476_45990478del | CA1022881157 | COL6A1 | c.1002+54_1002+56del (n.1002+54_1002+56del)
| gnomAD v3 gnomAD v4 |
21 | g.45990476_45990479del | CA2654972414 | COL6A1 | c.1002+54_1002+57del (n.1002+54_1002+57del)
| gnomAD v4 |
21 | g.45990476_45990480del | CA10070021 | COL6A1 | c.1002+54_1002+58del (n.1002+54_1002+58del)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
21 | g.45990475_45990511del | CA10070019 | COL6A1 | c.1002+53_1002+89del (n.1002+53_1002+89del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990482_45990526del | CA2654972413 | COL6A1 | c.1002+60_1002+104del (n.1002+60_1002+104del)
| gnomAD v4 |
21 | g.45990482_45990581dup | CA2654972415 | COL6A1 | c.1002+60_1002+159dup (n.1002+60_1002+159dup)
| gnomAD v4 |
21 | g.45990476del | CA1022881171 | COL6A1 | c.1002+54del (n.1002+54del)
| gnomAD v3 gnomAD v4 |
21 | g.45990476A= | CA2392434220 | COL6A1 | c.1002+54A= (n.1002+54A=)
| |
21 | g.45990476A>C | CA1022881182 | COL6A1 | c.1002+54A>C (n.1002+54A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990476A>G | CA1022881185 | COL6A1 | c.1002+54A>G (n.1002+54A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990476A>T | CA2577628514 | COL6A1 | c.1002+54A>T (n.1002+54A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990476_45990477del | CA1022881178 | COL6A1 | c.1002+54_1002+55del (n.1002+54_1002+55del)
| gnomAD v3 gnomAD v4 |
21 | g.45990476_45990512del | CA2654972418 | COL6A1 | c.1002+54_1002+90del (n.1002+54_1002+90del)
| gnomAD v4 |
21 | g.45990476_45990477insG | CA2654972419 | COL6A1 | c.1002+54_1002+55insG (n.1002+54_1002+55insG)
| gnomAD v4 |
21 | g.45990476_45990477insGG | CA2737648001 | COL6A1 | c.1002+54_1002+55insGG (n.1002+54_1002+55insGG)
| dbSNP |
21 | g.45990477del | CA1022881197 | COL6A1 | c.1002+55del (n.1002+55del)
| gnomAD v3 gnomAD v4 |
21 | g.45990477T>A | CA2654972421 | COL6A1 | c.1002+55T>A (n.1002+55T>A)
| gnomAD v4 |
21 | g.45990477T>C | CA321964701 | COL6A1 | c.1002+55T>C (n.1002+55T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45990477T>G | CA749831563 | COL6A1 | c.1002+55T>G (n.1002+55T>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990477T= | CA2392434221 | COL6A1 | c.1002+55T= (n.1002+55T=)
| |
21 | g.45990477_45990478del | CA1022881190 | COL6A1 | c.1002+55_1002+56del (n.1002+55_1002+56del)
| gnomAD v3 gnomAD v4 |
21 | g.45990477_45990479del | CA1022881194 | COL6A1 | c.1002+55_1002+57del (n.1002+55_1002+57del)
| gnomAD v3 gnomAD v4 |
21 | g.45990477_45990511del | CA2654972420 | COL6A1 | c.1002+55_1002+89del (n.1002+55_1002+89del)
| gnomAD v4 |
21 | g.45990479_45990588del | CA2818093066 | COL6A1 | c.1002+57_1002+166del (n.1002+57_1002+166del)
| |
21 | g.45990477_45990478insCCC | CA1022881201 | COL6A1 | c.1002+55_1002+56insCCC (n.1002+55_1002+56insCCC)
| gnomAD v3 gnomAD v4 |
21 | g.45990478G>A | CA2392434222 | COL6A1 | c.1002+56G>A (n.1002+56G>A)
| dbSNP gnomAD v4 |
21 | g.45990478G>C | CA2654972422 | COL6A1 | c.1002+56G>C (n.1002+56G>C)
| gnomAD v4 |
21 | g.45990478G= | CA2392434223 | COL6A1 | c.1002+56G= (n.1002+56G=)
| |
21 | g.45990478G>T | CA1022881204 | COL6A1 | c.1002+56G>T (n.1002+56G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990478_45990479insACCG | CA1022881213 | COL6A1 | c.1002+56_1002+57insACCG (n.1002+56_1002+57insACCG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990478_45990479insACCCG | CA1022881212 | COL6A1 | c.1002+56_1002+57insACCCG (n.1002+56_1002+57insACCCG)
| gnomAD v3 gnomAD v4 |
21 | g.45990481_45990482insCGGGGGGGGG | CA2737600973 | COL6A1 | c.1002+59_1002+60insCGGGGGGGGG (n.1002+59_1002+60insCGGGGGGGGG)
| dbSNP |
21 | g.45990481_45990482insTGGACAGCGTGAAGGTGACCGGGG | CA1022881208 | COL6A1 | c.1002+59_1002+60insTGGACAGCGTGAAGGTGACCGGGG (n.1002+59_1002+60insTGGACAGCGTGAAGGTGACCGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990481_45990482insTGGACAGGGTGAAGGTGCCCAGGGGAAGCACGGGG | CA2654972425 | COL6A1 | c.1002+59_1002+60insTGGACAGGGTGAAGGTGCCCAGGGGAAGCACGGGG (n.1002+59_1002+60insTGGACAGGGTGAAGGTGCCCAGGGGAAGCACGGGG)
| gnomAD v4 |
21 | g.45990481del | CA2654972424 | COL6A1 | c.1002+59del (n.1002+59del)
| gnomAD v4 |
21 | g.45990511_45990512insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC | CA638178935 | COL6A1 | c.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990487_45990521del | CA2572810965 | COL6A1 | c.1002+65_1002+99del (n.1002+65_1002+99del)
| gnomAD v4 |
21 | g.45990533_45990534insCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG | CA638178933 | COL6A1 | c.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990533_45990534insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG | CA638178934 | COL6A1 | c.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990490_45990569del | CA1022881206 | COL6A1 | c.1002+68_1002+147del (n.1002+68_1002+147del)
| gnomAD v3 gnomAD v4 |
21 | g.45990487_45990576del | CA2654972423 | COL6A1 | c.1002+65_1002+154del (n.1002+65_1002+154del)
| gnomAD v4 |
21 | g.45990478_45990479insACCCC | CA2654972426 | COL6A1 | c.1002+56_1002+57insACCCC (n.1002+56_1002+57insACCCC)
| gnomAD v4 |
21 | g.45990478_45990479insATCCC | CA1022881219 | COL6A1 | c.1002+56_1002+57insATCCC (n.1002+56_1002+57insATCCC)
| gnomAD v3 gnomAD v4 |
21 | g.45990479G>A | CA1022881224 | COL6A1 | c.1002+57G>A (n.1002+57G>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990479G>C | CA1022881227 | COL6A1 | c.1002+57G>C (n.1002+57G>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990479G>T | CA2591412840 | COL6A1 | c.1002+57G>T (n.1002+57G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990479_45990480insT | CA2654972427 | COL6A1 | c.1002+57_1002+58insT (n.1002+57_1002+58insT)
| gnomAD v4 |
21 | g.45990479_45990480insCA | CA1022881230 | COL6A1 | c.1002+57_1002+58insCA (n.1002+57_1002+58insCA)
| gnomAD v3 gnomAD v4 |
21 | g.45990480G>A | CA2654972428 | COL6A1 | c.1002+58G>A (n.1002+58G>A)
| gnomAD v4 |
21 | g.45990480G>C | CA2654972429 | COL6A1 | c.1002+58G>C (n.1002+58G>C)
| gnomAD v4 |
21 | g.45990480G>T | CA2563365224 | COL6A1 | c.1002+58G>T (n.1002+58G>T)
| dbSNP gnomAD v4 |
21 | g.45990480_45990490delinsGGAGGGACGGA | CA2392434224 | COL6A1 | c.1002+58_1002+68delinsGGAGGGACGGA (n.1002+58_1002+68delinsGGAGGGACGGA)
| |
21 | g.45990480_45990510del | CA1022881232 | COL6A1 | c.1002+58_1002+88del (n.1002+58_1002+88del)
| gnomAD v3 gnomAD v4 |
21 | g.45990480_45990481insCAAGC | CA2654972432 | COL6A1 | c.1002+58_1002+59insCAAGC (n.1002+58_1002+59insCAAGC)
| gnomAD v4 |
21 | g.45990481G>A | CA2392434226 | COL6A1 | c.1002+59G>A (n.1002+59G>A)
| dbSNP gnomAD v4 |
21 | g.45990481G>C | CA1022881244 | COL6A1 | c.1002+59G>C (n.1002+59G>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990481G= | CA2392434225 | COL6A1 | c.1002+59G= (n.1002+59G=)
| |
21 | g.45990481G>T | CA1022881241 | COL6A1 | c.1002+59G>T (n.1002+59G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990481_45990482insTG | CA1022881248 | COL6A1 | c.1002+59_1002+60insTG (n.1002+59_1002+60insTG)
| gnomAD v3 gnomAD v4 |
21 | g.45990483_45990484insAGATGTTGAG | CA2654972431 | COL6A1 | c.1002+61_1002+62insAGATGTTGAG (n.1002+61_1002+62insAGATGTTGAG)
| gnomAD v4 |
21 | g.45990482_45990483del | CA2654972430 | COL6A1 | c.1002+60_1002+61del (n.1002+60_1002+61del)
| gnomAD v4 |
21 | g.45990482_45990491del | CA638178936 | COL6A1 | c.1002+60_1002+69del (n.1002+60_1002+69del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990482_45990500del | CA1022881235 | COL6A1 | c.1002+60_1002+78del (n.1002+60_1002+78del)
| gnomAD v3 gnomAD v4 |
21 | g.45990481_45990482insTGGACAGT | CA2741701881 | COL6A1 | c.1002+59_1002+60insTGGACAGT (n.1002+59_1002+60insTGGACAGT)
| |
21 | g.45990481_45990482insTGAGGTGAT | CA2654972435 | COL6A1 | c.1002+59_1002+60insTGAGGTGAT (n.1002+59_1002+60insTGAGGTGAT)
| gnomAD v4 |
21 | g.45990481_45990482insCGAGATGATC | CA2654972436 | COL6A1 | c.1002+59_1002+60insCGAGATGATC (n.1002+59_1002+60insCGAGATGATC)
| gnomAD v4 |
21 | g.45990481_45990482insCGAGCTGTGC | CA2737648099 | COL6A1 | c.1002+59_1002+60insCGAGCTGTGC (n.1002+59_1002+60insCGAGCTGTGC)
| dbSNP |
21 | g.45990481_45990482insTGAGGTGATAC | CA2654972434 | COL6A1 | c.1002+59_1002+60insTGAGGTGATAC (n.1002+59_1002+60insTGAGGTGATAC)
| gnomAD v4 |
21 | g.45990481_45990482insTGGACAGTGTGA | CA2654972433 | COL6A1 | c.1002+59_1002+60insTGGACAGTGTGA (n.1002+59_1002+60insTGGACAGTGTGA)
| gnomAD v4 |
21 | g.45990482del | CA1022881253 | COL6A1 | c.1002+60del (n.1002+60del)
| gnomAD v3 gnomAD v4 |
21 | g.45990482A= | CA2392434227 | COL6A1 | c.1002+60A= (n.1002+60A=)
| |
21 | g.45990482A>C | CA1022881261 | COL6A1 | c.1002+60A>C (n.1002+60A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990482A>G | CA749831577 | COL6A1 | c.1002+60A>G (n.1002+60A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990482A>T | CA638178937 | COL6A1 | c.1002+60A>T (n.1002+60A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990482_45990487del | CA1022881259 | COL6A1 | c.1002+60_1002+65del (n.1002+60_1002+65del)
| gnomAD v3 gnomAD v4 |
21 | g.45990482_45990511delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC | CA2392434228 | COL6A1 | c.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC)
| |
21 | g.45990483G>A | CA2392434230 | COL6A1 | c.1002+61G>A (n.1002+61G>A)
| dbSNP gnomAD v4 |
21 | g.45990483G>C | CA2591412846 | COL6A1 | c.1002+61G>C (n.1002+61G>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990483G= | CA2392434229 | COL6A1 | c.1002+61G= (n.1002+61G=)
| |
21 | g.45990483G>T | CA1022881265 | COL6A1 | c.1002+61G>T (n.1002+61G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990483_45990484insAGATGTGCCG | CA2654972437 | COL6A1 | c.1002+61_1002+62insAGATGTGCCG (n.1002+61_1002+62insAGATGTGCCG)
| gnomAD v4 |
21 | g.45990485del | CA2654972439 | COL6A1 | c.1002+63del (n.1002+63del)
| gnomAD v4 |
21 | g.45990485_45990494del | CA2654972438 | COL6A1 | c.1002+63_1002+72del (n.1002+63_1002+72del)
| gnomAD v4 |
21 | g.45990483_45990511del | CA1022881264 | COL6A1 | c.1002+61_1002+89del (n.1002+61_1002+89del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990483_45990484insAGGTGAGCCC | CA2654972440 | COL6A1 | c.1002+61_1002+62insAGGTGAGCCC (n.1002+61_1002+62insAGGTGAGCCC)
| gnomAD v4 |
21 | g.45990484G>A | CA1022881267 | COL6A1 | c.1002+62G>A (n.1002+62G>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990484G>C | CA2577628516 | COL6A1 | c.1002+62G>C (n.1002+62G>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990484G= | CA2392434231 | COL6A1 | c.1002+62G= (n.1002+62G=)
| |
21 | g.45990484G>T | CA2654972442 | COL6A1 | c.1002+62G>T (n.1002+62G>T)
| dbSNP gnomAD v4 |
21 | g.45990487_45990490del | CA2577628515 | COL6A1 | c.1002+65_1002+68del (n.1002+65_1002+68del)
| |
21 | g.45990486_45990514del | CA2654972441 | COL6A1 | c.1002+64_1002+92del (n.1002+64_1002+92del)
| gnomAD v4 |
21 | g.45990484_45990485insT | CA2392434232 | COL6A1 | c.1002+62_1002+63insT (n.1002+62_1002+63insT)
| dbSNP gnomAD v4 |
21 | g.45990484_45990485insCATC | CA2654972443 | COL6A1 | c.1002+62_1002+63insCATC (n.1002+62_1002+63insCATC)
| gnomAD v4 |
21 | g.45990484_45990485insACAGTGT | CA2654972445 | COL6A1 | c.1002+62_1002+63insACAGTGT (n.1002+62_1002+63insACAGTGT)
| gnomAD v4 |
21 | g.45990485G>A | CA1022881293 | COL6A1 | c.1002+63G>A (n.1002+63G>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990485G>C | CA2654972444 | COL6A1 | c.1002+63G>C (n.1002+63G>C)
| gnomAD v4 |
21 | g.45990485G>T | CA1022881290 | COL6A1 | c.1002+63G>T (n.1002+63G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990485_45990486insC | CA2654972446 | COL6A1 | c.1002+63_1002+64insC (n.1002+63_1002+64insC)
| gnomAD v4 |
21 | g.45990485_45990486insCA | CA2654972447 | COL6A1 | c.1002+63_1002+64insCA (n.1002+63_1002+64insCA)
| gnomAD v4 |
21 | g.45990486A= | CA2392434233 | COL6A1 | c.1002+64A= (n.1002+64A=)
| |
21 | g.45990486A>C | CA1022881298 | COL6A1 | c.1002+64A>C (n.1002+64A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990486A>G | CA1022881299 | COL6A1 | c.1002+64A>G (n.1002+64A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990486A>T | CA2654972449 | COL6A1 | c.1002+64A>T (n.1002+64A>T)
| gnomAD v4 |
21 | g.45990486_45990487del | CA1022881297 | COL6A1 | c.1002+64_1002+65del (n.1002+64_1002+65del)
| gnomAD v3 gnomAD v4 |
21 | g.45990486_45990491delinsACGGAG | CA2392434234 | COL6A1 | c.1002+64_1002+69delinsACGGAG (n.1002+64_1002+69delinsACGGAG)
| |
21 | g.45990486_45990510del | CA2654972448 | COL6A1 | c.1002+64_1002+88del (n.1002+64_1002+88del)
| gnomAD v4 |
21 | g.45990486_45990511delinsACGGAGTGGACGGCGTGAAGGTGACC | CA2392434235 | COL6A1 | c.1002+64_1002+89delinsACGGAGTGGACGGCGTGAAGGTGACC (n.1002+64_1002+89delinsACGGAGTGGACGGCGTGAAGGTGACC)
| |
21 | g.45990486_45990487insTCC | CA2392434237 | COL6A1 | c.1002+64_1002+65insTCC (n.1002+64_1002+65insTCC)
| dbSNP |
21 | g.45990487C>A | CA1022881319 | COL6A1 | c.1002+65C>A (n.1002+65C>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990487C= | CA2392434236 | COL6A1 | c.1002+65C= (n.1002+65C=)
| |
21 | g.45990487C>G | CA749831587 | COL6A1 | c.1002+65C>G (n.1002+65C>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990487C>T | CA321964704 | COL6A1 | c.1002+65C>T (n.1002+65C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990487_45990488del | CA1022881315 | COL6A1 | c.1002+65_1002+66del (n.1002+65_1002+66del)
| gnomAD v3 gnomAD v4 |
21 | g.45990487_45990491del | CA1022881317 | COL6A1 | c.1002+65_1002+69del (n.1002+65_1002+69del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990490_45990514del | CA1022881318 | COL6A1 | c.1002+68_1002+92del (n.1002+68_1002+92del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990487_45990488insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG | CA2737648347 | COL6A1 | c.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG (n.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG)
| dbSNP |
21 | g.45990488G>A | CA321964707 | COL6A1 | c.1002+66G>A (n.1002+66G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990488G= | CA2392434238 | COL6A1 | c.1002+66G= (n.1002+66G=)
| |
21 | g.45990488G>T | CA2654972456 | COL6A1 | c.1002+66G>T (n.1002+66G>T)
| gnomAD v4 |
21 | g.45990488_45990489insAG | CA2654972450 | COL6A1 | c.1002+66_1002+67insAG (n.1002+66_1002+67insAG)
| gnomAD v4 |
21 | g.45990488_45990489del | CA1022881323 | COL6A1 | c.1002+66_1002+67del (n.1002+66_1002+67del)
| gnomAD v3 gnomAD v4 |
21 | g.45990489_45990490insGGAGGGATGG | CA749831590 | COL6A1 | c.1002+67_1002+68insGGAGGGATGG (n.1002+67_1002+68insGGAGGGATGG)
| dbSNP |
21 | g.45990488_45990489dup | CA1022881322 | COL6A1 | c.1002+66_1002+67dup (n.1002+66_1002+67dup)
| gnomAD v3 gnomAD v4 |
21 | g.45990489del | CA2654972451 | COL6A1 | c.1002+67del (n.1002+67del)
| gnomAD v4 |
21 | g.45990488_45990491del | CA2654972453 | COL6A1 | c.1002+66_1002+69del (n.1002+66_1002+69del)
| gnomAD v4 |
21 | g.45990489_45990491del | CA2654972452 | COL6A1 | c.1002+67_1002+69del (n.1002+67_1002+69del)
| gnomAD v4 |
21 | g.45990490_45990519del | CA2654972454 | COL6A1 | c.1002+68_1002+97del (n.1002+68_1002+97del)
| gnomAD v4 |
21 | g.45990490_45990524del | CA2654972455 | COL6A1 | c.1002+68_1002+102del (n.1002+68_1002+102del)
| gnomAD v4 |
21 | g.45990490_45990579del | CA638178938 | COL6A1 | c.1002+68_1002+157del (n.1002+68_1002+157del)
| gnomAD v2 gnomAD v4 |
21 | g.45990489G>A | CA2654972457 | COL6A1 | c.1002+67G>A (n.1002+67G>A)
| gnomAD v4 |
21 | g.45990489G>C | CA1022881329 | COL6A1 | c.1002+67G>C (n.1002+67G>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990489G>T | CA1022881331 | COL6A1 | c.1002+67G>T (n.1002+67G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990490_45990491del | CA1022881333 | COL6A1 | c.1002+68_1002+69del (n.1002+68_1002+69del)
| gnomAD v3 gnomAD v4 |
21 | g.45990489_45990496delinsGAGTGGAC | CA2392434239 | COL6A1 | c.1002+67_1002+74delinsGAGTGGAC (n.1002+67_1002+74delinsGAGTGGAC)
| |
21 | g.45990490_45990607del | CA638178939 | COL6A1 | c.1002+68_1003-166del (n.1002+68_1003-166del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990489_45990490insCA | CA2654972458 | COL6A1 | c.1002+67_1002+68insCA (n.1002+67_1002+68insCA)
| gnomAD v4 |
21 | g.45990490del | CA2654972459 | COL6A1 | c.1002+68del (n.1002+68del)
| gnomAD v4 |
21 | g.45990490A= | CA2392434240 | COL6A1 | c.1002+68A= (n.1002+68A=)
| |
21 | g.45990490A>C | CA1022881342 | COL6A1 | c.1002+68A>C (n.1002+68A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990490A>G | CA321964724 | COL6A1 | c.1002+68A>G (n.1002+68A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990490A>T | CA2577628517 | COL6A1 | c.1002+68A>T (n.1002+68A>T)
| gnomAD v4 |
21 | g.45990490_45990492del | CA1022881336 | COL6A1 | c.1002+68_1002+70del (n.1002+68_1002+70del)
| gnomAD v3 gnomAD v4 |
21 | g.45990490_45990496del | CA1022881337 | COL6A1 | c.1002+68_1002+74del (n.1002+68_1002+74del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990490_45990504del | CA2654972460 | COL6A1 | c.1002+68_1002+82del (n.1002+68_1002+82del)
| gnomAD v4 |
21 | g.45990490_45990512del | CA1022881338 | COL6A1 | c.1002+68_1002+90del (n.1002+68_1002+90del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990490_45990522del | CA1022881340 | COL6A1 | c.1002+68_1002+100del (n.1002+68_1002+100del)
| gnomAD v3 gnomAD v4 |
21 | g.45990490_45990525delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGG | CA2392434241 | COL6A1 | c.1002+68_1002+103delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGG (n.1002+68_1002+103delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGG)
| |
21 | g.45990490_45990618delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG | CA2392434242 | COL6A1 | c.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG (n.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG)
| |