21 | g.45990401_45990484delinsCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGG | CA2392434115 | COL6A1 | c.981_1002+62delinsCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGG
| |
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.45990404_45990615delinsCGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGT | CA2392434118 | COL6A1 | c.984_1003-158delinsCGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGT
| |
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.45990407_45990490delinsGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGA | CA2392434120 | COL6A1 | c.987_1002+68delinsGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGA
| |
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.45990411_45990485del | CA1022879618 | COL6A1 | c.991_1002+63del
| gnomAD v3 gnomAD v4 |
21 | g.45990413_45990489delinsCGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGG | CA2392434126 | COL6A1 | c.993_1002+67delinsCGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGG
| |
21 | g.45990414_45990489del | CA1022879634 | COL6A1 | c.994_1002+67del
| dbSNP gnomAD v3 gnomAD v4 |
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.45990421_45990497del | CA1022879662 | COL6A1 | c.1001_1002+75del
| gnomAD v3 gnomAD v4 |
21 | g.45990428_45990605del | CA2560934595 | COL6A1 | c.1002+6_1003-168del (n.1002+6_1003-168del)
| |
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.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.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.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.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.45990437_45990518del | CA1022879711 | COL6A1 | c.1002+15_1002+96del (n.1002+15_1002+96del)
| gnomAD v3 gnomAD v4 |
21 | g.45990433_45990491del | CA2818097520 | COL6A1 | c.1002+11_1002+69del (n.1002+11_1002+69del)
| |
21 | g.45990439_45990477del | CA1022879715 | COL6A1 | c.1002+17_1002+55del (n.1002+17_1002+55del)
| 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.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.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.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.45990447_45990476del | CA2654958966 | COL6A1 | c.1002+25_1002+54del (n.1002+25_1002+54del)
| 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.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.45990450_45990491del | CA2654959014 | COL6A1 | c.1002+28_1002+69del (n.1002+28_1002+69del)
| gnomAD v4 |
21 | g.45990458_45990605del | CA2654959029 | COL6A1 | c.1002+36_1003-168del (n.1002+36_1003-168del)
| 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.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.45990457_45990476del | CA2654959071 | COL6A1 | c.1002+35_1002+54del (n.1002+35_1002+54del)
| 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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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)
| |
21 | g.45990490_45990491insCT | CA2654972468 | COL6A1 | c.1002+68_1002+69insCT (n.1002+68_1002+69insCT)
| gnomAD v4 |
21 | g.45990491G>A | CA2654972464 | COL6A1 | c.1002+69G>A (n.1002+69G>A)
| gnomAD v4 |
21 | g.45990491G>C | CA2392434244 | COL6A1 | c.1002+69G>C (n.1002+69G>C)
| dbSNP |
21 | g.45990491G= | CA2392434243 | COL6A1 | c.1002+69G= (n.1002+69G=)
| |
21 | g.45990491G>T | CA2654972465 | COL6A1 | c.1002+69G>T (n.1002+69G>T)
| gnomAD v4 |
21 | g.45990491_45990492insGGATGGGG | CA2654972467 | COL6A1 | c.1002+69_1002+70insGGATGGGG (n.1002+69_1002+70insGGATGGGG)
| gnomAD v4 |
21 | g.45990492_45990493del | CA2654972462 | COL6A1 | c.1002+70_1002+71del (n.1002+70_1002+71del)
| gnomAD v4 |
21 | g.45990498_45990499insGGTGAAGGGGACCCGGGTGGACGG | CA2818093067 | COL6A1 | c.1002+76_1002+77insGGTGAAGGGGACCCGGGTGGACGG (n.1002+76_1002+77insGGTGAAGGGGACCCGGGTGGACGG)
| |
21 | g.45990492_45990514del | CA2654972466 | COL6A1 | c.1002+70_1002+92del (n.1002+70_1002+92del)
| gnomAD v4 |
21 | g.45990492_45990515del | CA2654972469 | COL6A1 | c.1002+70_1002+93del (n.1002+70_1002+93del)
| gnomAD v4 |
21 | g.45990492_45990516del | CA2654972461 | COL6A1 | c.1002+70_1002+94del (n.1002+70_1002+94del)
| gnomAD v4 |
21 | g.45990497_45990531dup | CA2591412870 | COL6A1 | c.1002+75_1002+109dup (n.1002+75_1002+109dup)
| gnomAD v3 gnomAD v4 |
21 | g.45990497_45990531del | CA1022881347 | COL6A1 | c.1002+75_1002+109del (n.1002+75_1002+109del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990492_45990571del | CA2654972463 | COL6A1 | c.1002+70_1002+149del (n.1002+70_1002+149del)
| gnomAD v4 |
21 | g.45990499_45990626del | CA1022881350 | COL6A1 | c.1002+77_1003-147del (n.1002+77_1003-147del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990491_45990492insGGA | CA2654972470 | COL6A1 | c.1002+69_1002+70insGGA (n.1002+69_1002+70insGGA)
| gnomAD v4 |
21 | g.45990492del | CA1022881353 | COL6A1 | c.1002+70del (n.1002+70del)
| gnomAD v3 gnomAD v4 |
21 | g.45990492T>A | CA1022881355 | COL6A1 | c.1002+70T>A (n.1002+70T>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990492T>G | CA638178940 | COL6A1 | c.1002+70T>G (n.1002+70T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990492_45990495del | CA2654972471 | COL6A1 | c.1002+70_1002+73del (n.1002+70_1002+73del)
| gnomAD v4 |
21 | g.45990492_45990499delinsTGGACGGC | CA2392434245 | COL6A1 | c.1002+70_1002+77delinsTGGACGGC (n.1002+70_1002+77delinsTGGACGGC)
| |
21 | g.45990492_45990512delinsTGGACGGCGTGAAGGTGACCC | CA2392434246 | COL6A1 | c.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC (n.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC)
| |
21 | g.45990493G>A | CA749831599 | COL6A1 | c.1002+71G>A (n.1002+71G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990493G= | CA2392434247 | COL6A1 | c.1002+71G= (n.1002+71G=)
| |
21 | g.45990493G>T | CA1022881362 | COL6A1 | c.1002+71G>T (n.1002+71G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990494_45990500del | CA1022881370 | COL6A1 | c.1002+72_1002+78del (n.1002+72_1002+78del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990495_45990514del | CA1022881368 | COL6A1 | c.1002+73_1002+92del (n.1002+73_1002+92del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990495_45990515del | CA2654972475 | COL6A1 | c.1002+73_1002+93del (n.1002+73_1002+93del)
| gnomAD v4 |
21 | g.45990493_45990516del | CA2654972473 | COL6A1 | c.1002+71_1002+94del (n.1002+71_1002+94del)
| gnomAD v4 |
21 | g.45990494_45990516del | CA2654972474 | COL6A1 | c.1002+72_1002+94del (n.1002+72_1002+94del)
| gnomAD v4 |
21 | g.45990496_45990517del | CA2654972472 | COL6A1 | c.1002+74_1002+95del (n.1002+74_1002+95del)
| gnomAD v4 |
21 | g.45990493_45990494insAAGGT | CA2654972476 | COL6A1 | c.1002+71_1002+72insAAGGT (n.1002+71_1002+72insAAGGT)
| gnomAD v4 |
21 | g.45990494G>A | CA638178941 | COL6A1 | c.1002+72G>A (n.1002+72G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990494G>C | CA2591412874 | COL6A1 | c.1002+72G>C (n.1002+72G>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990494G= | CA2392434248 | COL6A1 | c.1002+72G= (n.1002+72G=)
| |
21 | g.45990494G>T | CA321964729 | COL6A1 | c.1002+72G>T (n.1002+72G>T)
| dbSNP gnomAD v4 |
21 | g.45990494_45990495insTG | CA2654972477 | COL6A1 | c.1002+72_1002+73insTG (n.1002+72_1002+73insTG)
| gnomAD v4 |
21 | g.45990494_45990503del | CA1022881374 | COL6A1 | c.1002+72_1002+81del (n.1002+72_1002+81del)
| gnomAD v3 gnomAD v4 |
21 | g.45990494_45990495insGGAGAGCTGAGGAGGGCCGGAGGGC | CA2654972480 | COL6A1 | c.1002+72_1002+73insGGAGAGCTGAGGAGGGCCGGAGGGC (n.1002+72_1002+73insGGAGAGCTGAGGAGGGCCGGAGGGC)
| gnomAD v4 |
21 | g.45990495A>C | CA1022881385 | COL6A1 | c.1002+73A>C (n.1002+73A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990495A>G | CA1022881389 | COL6A1 | c.1002+73A>G (n.1002+73A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990495A>T | CA2654972478 | COL6A1 | c.1002+73A>T (n.1002+73A>T)
| gnomAD v4 |
21 | g.45990495_45990496delinsAC | CA2392434249 | COL6A1 | c.1002+73_1002+74delinsAC (n.1002+73_1002+74delinsAC)
| |
21 | g.45990495_45990501del | CA1022881380 | COL6A1 | c.1002+73_1002+79del (n.1002+73_1002+79del)
| gnomAD v3 gnomAD v4 |
21 | g.45990495_45990512del | CA1022881381 | COL6A1 | c.1002+73_1002+90del (n.1002+73_1002+90del)
| gnomAD v3 gnomAD v4 |
21 | g.45990495_45990517del | CA2654972479 | COL6A1 | c.1002+73_1002+95del (n.1002+73_1002+95del)
| gnomAD v4 |
21 | g.45990496del | CA638178942 | COL6A1 | c.1002+74del (n.1002+74del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990496C>A | CA1022881413 | COL6A1 | c.1002+74C>A (n.1002+74C>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990496C= | CA2392434250 | COL6A1 | c.1002+74C= (n.1002+74C=)
| |
21 | g.45990496C>G | CA1022881414 | COL6A1 | c.1002+74C>G (n.1002+74C>G)
| gnomAD v3 gnomAD v4 |
21 | g.45990496C>T | CA321964735 | COL6A1 | c.1002+74C>T (n.1002+74C>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990496_45990497del | CA2654972484 | COL6A1 | c.1002+74_1002+75del (n.1002+74_1002+75del)
| gnomAD v4 |
21 | g.45990496_45990512del | CA1022881411 | COL6A1 | c.1002+74_1002+90del (n.1002+74_1002+90del)
| gnomAD v3 gnomAD v4 |
21 | g.45990496_45990514del | CA1022881412 | COL6A1 | c.1002+74_1002+92del (n.1002+74_1002+92del)
| gnomAD v3 gnomAD v4 |
21 | g.45990499_45990514del | CA2654972483 | COL6A1 | c.1002+77_1002+92del (n.1002+77_1002+92del)
| gnomAD v4 |
21 | g.45990496_45990518del | CA2654972482 | COL6A1 | c.1002+74_1002+96del (n.1002+74_1002+96del)
| gnomAD v4 |
21 | g.45990496_45990527del | CA2654972481 | COL6A1 | c.1002+74_1002+105del (n.1002+74_1002+105del)
| gnomAD v4 |
21 | g.45990533_45990534insCGTGAAGGTGACCGGGGAGGGACGGAGAGTTCGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG | CA1022881400 | COL6A1 | c.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGACGGAGAGTTCGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGACGGAGAGTTCGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG)
| |
21 | g.45990496_45990497insCT | CA2654972485 | COL6A1 | c.1002+74_1002+75insCT (n.1002+74_1002+75insCT)
| gnomAD v4 |
21 | g.45990497G>A | CA321964736 | COL6A1 | c.1002+75G>A (n.1002+75G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990497G>C | CA2580670431 | COL6A1 | c.1002+75G>C (n.1002+75G>C)
| gnomAD v4 |
21 | g.45990497G= | CA2392434251 | COL6A1 | c.1002+75G= (n.1002+75G=)
| |
21 | g.45990497G>T | CA2577628518 | COL6A1 | c.1002+75G>T (n.1002+75G>T)
| gnomAD v4 |
21 | g.45990497_45990499delinsAGT | CA2818093068 | COL6A1 | c.1002+75_1002+77delinsAGT (n.1002+75_1002+77delinsAGT)
| |
21 | g.45990498G>A | CA2392434253 | COL6A1 | c.1002+76G>A (n.1002+76G>A)
| dbSNP gnomAD v4 |
21 | g.45990498G>C | CA2654972487 | COL6A1 | c.1002+76G>C (n.1002+76G>C)
| gnomAD v4 |
21 | g.45990498G= | CA2392434252 | COL6A1 | c.1002+76G= (n.1002+76G=)
| |
21 | g.45990498G>T | CA2654972486 | COL6A1 | c.1002+76G>T (n.1002+76G>T)
| gnomAD v4 |
21 | g.45990499_45990533dup | CA2654972488 | COL6A1 | c.1002+77_1002+111dup (n.1002+77_1002+111dup)
| gnomAD v4 |
21 | g.45990499C>A | CA749831609 | COL6A1 | c.1002+77C>A (n.1002+77C>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990499C= | CA2392434254 | COL6A1 | c.1002+77C= (n.1002+77C=)
| |
21 | g.45990499C>G | CA1022881418 | COL6A1 | c.1002+77C>G (n.1002+77C>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990499C>T | CA321964737 | COL6A1 | c.1002+77C>T (n.1002+77C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990499_45990517delinsCGTGAAGGTGACCCGGGGA | CA2392434255 | COL6A1 | c.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA (n.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA)
| |
21 | g.45990500G>A | CA749831625 | COL6A1 | c.1002+78G>A (n.1002+78G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990500G>C | CA2654972492 | COL6A1 | c.1002+78G>C (n.1002+78G>C)
| gnomAD v4 |
21 | g.45990500G= | CA2392434256 | COL6A1 | c.1002+78G= (n.1002+78G=)
| |
21 | g.45990500G>T | CA2654972493 | COL6A1 | c.1002+78G>T (n.1002+78G>T)
| dbSNP gnomAD v4 |
21 | g.45990500_45990501insGGAAGG | CA2516124913 | COL6A1 | c.1002+78_1002+79insGGAAGG (n.1002+78_1002+79insGGAAGG)
| |
21 | g.45990504_45990509del | CA2577628519 | COL6A1 | c.1002+82_1002+87del (n.1002+82_1002+87del)
| |
21 | g.45990501_45990514del | CA2654972489 | COL6A1 | c.1002+79_1002+92del (n.1002+79_1002+92del)
| gnomAD v4 |
21 | g.45990501_45990518del | CA1022881430 | COL6A1 | c.1002+79_1002+96del (n.1002+79_1002+96del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990512_45990546dup | CA512713668 | COL6A1 | c.1002+90_1002+124dup (n.1002+90_1002+124dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990512_45990546del | CA2654972490 | COL6A1 | c.1002+90_1002+124del (n.1002+90_1002+124del)
| dbSNP gnomAD v4 |
21 | g.45990501_45990583del | CA2654972491 | COL6A1 | c.1002+79_1002+161del (n.1002+79_1002+161del)
| gnomAD v4 |
21 | g.45990513_45990640del | CA1022881433 | COL6A1 | c.1002+91_1003-133del (n.1002+91_1003-133del)
| gnomAD v3 gnomAD v4 |
21 | g.45990501T>A | CA2654972494 | COL6A1 | c.1002+79T>A (n.1002+79T>A)
| gnomAD v4 |
21 | g.45990501T>C | CA1022881437 | COL6A1 | c.1002+79T>C (n.1002+79T>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990501T>G | CA1022881441 | COL6A1 | c.1002+79T>G (n.1002+79T>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990501T= | CA2392434257 | COL6A1 | c.1002+79T= (n.1002+79T=)
| |
21 | g.45990502G>C | CA2654972497 | COL6A1 | c.1002+80G>C (n.1002+80G>C)
| gnomAD v4 |
21 | g.45990502G>T | CA2654972498 | COL6A1 | c.1002+80G>T (n.1002+80G>T)
| gnomAD v4 |
21 | g.45990502_45990503del | CA2654972496 | COL6A1 | c.1002+80_1002+81del (n.1002+80_1002+81del)
| gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGGGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972495 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGGGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGGGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990503A>C | CA1022881450 | COL6A1 | c.1002+81A>C (n.1002+81A>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990503A>G | CA1022881451 | COL6A1 | c.1002+81A>G (n.1002+81A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990503A>T | CA2591412881 | COL6A1 | c.1002+81A>T (n.1002+81A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990503_45990504insGGC | CA2654972499 | COL6A1 | c.1002+81_1002+82insGGC (n.1002+81_1002+82insGGC)
| gnomAD v4 |
21 | g.45990504A>C | CA1022881452 | COL6A1 | c.1002+82A>C (n.1002+82A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990504A>G | CA1022881454 | COL6A1 | c.1002+82A>G (n.1002+82A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990504A>T | CA2577628520 | COL6A1 | c.1002+82A>T (n.1002+82A>T)
| gnomAD v4 |
21 | g.45990504_45990511del | CA2654972500 | COL6A1 | c.1002+82_1002+89del (n.1002+82_1002+89del)
| gnomAD v4 |
21 | g.45990505G>A | CA2654972501 | COL6A1 | c.1002+83G>A (n.1002+83G>A)
| gnomAD v4 |
21 | g.45990505G>T | CA2591412883 | COL6A1 | c.1002+83G>T (n.1002+83G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990506_45990507insGGGCCCGGGGAGGGATGGG | CA2515476430 | COL6A1 | c.1002+84_1002+85insGGGCCCGGGGAGGGATGGG (n.1002+84_1002+85insGGGCCCGGGGAGGGATGGG)
| |
21 | g.45990506dup | CA2818093070 | COL6A1 | c.1002+84dup (n.1002+84dup)
| |
21 | g.45990507_45990514del | CA2654972502 | COL6A1 | c.1002+85_1002+92del (n.1002+85_1002+92del)
| gnomAD v4 |
21 | g.45990506G>A | CA2654972504 | COL6A1 | c.1002+84G>A (n.1002+84G>A)
| gnomAD v4 |
21 | g.45990506G>C | CA2818093071 | COL6A1 | c.1002+84G>C (n.1002+84G>C)
| |
21 | g.45990506G>T | CA2654972505 | COL6A1 | c.1002+84G>T (n.1002+84G>T)
| gnomAD v4 |
21 | g.45990507_45990508del | CA2654972503 | COL6A1 | c.1002+85_1002+86del (n.1002+85_1002+86del)
| gnomAD v4 |
21 | g.45990506_45990507insC | CA2654972506 | COL6A1 | c.1002+84_1002+85insC (n.1002+84_1002+85insC)
| gnomAD v4 |
21 | g.45990506_45990507insCTGTCTCTTATACACATC | CA2654972507 | COL6A1 | c.1002+84_1002+85insCTGTCTCTTATACACATC (n.1002+84_1002+85insCTGTCTCTTATACACATC)
| gnomAD v4 |
21 | g.45990507T>A | CA1022881458 | COL6A1 | c.1002+85T>A (n.1002+85T>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990507T>G | CA321964739 | COL6A1 | c.1002+85T>G (n.1002+85T>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990507T= | CA2392434258 | COL6A1 | c.1002+85T= (n.1002+85T=)
| |
21 | g.45990507_45990509del | CA2654972508 | COL6A1 | c.1002+85_1002+87del (n.1002+85_1002+87del)
| gnomAD v4 |
21 | g.45990508G>A | CA2654972510 | COL6A1 | c.1002+86G>A (n.1002+86G>A)
| gnomAD v4 |
21 | g.45990508G>T | CA2654972511 | COL6A1 | c.1002+86G>T (n.1002+86G>T)
| gnomAD v4 |
21 | g.45990509_45990518del | CA2654972509 | COL6A1 | c.1002+87_1002+96del (n.1002+87_1002+96del)
| gnomAD v4 |
21 | g.45990509del | CA2577628521 | COL6A1 | c.1002+87del (n.1002+87del)
| gnomAD v4 |
21 | g.45990509A>C | CA2591412886 | COL6A1 | c.1002+87A>C (n.1002+87A>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990509A>G | CA1022881460 | COL6A1 | c.1002+87A>G (n.1002+87A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990509A>T | CA2654972512 | COL6A1 | c.1002+87A>T (n.1002+87A>T)
| gnomAD v4 |
21 | g.45990509_45990510delinsAC | CA2695196454 | COL6A1 | c.1002+87_1002+88delinsAC (n.1002+87_1002+88delinsAC)
| |
21 | g.45990509_45990511delinsACC | CA2392434259 | COL6A1 | c.1002+87_1002+89delinsACC (n.1002+87_1002+89delinsACC)
| |
21 | g.45990509_45990510insT | CA1022881463 | COL6A1 | c.1002+87_1002+88insT (n.1002+87_1002+88insT)
| gnomAD v3 gnomAD v4 |
21 | g.45990510C>A | CA2591412887 | COL6A1 | c.1002+88C>A (n.1002+88C>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990510C= | CA2392434261 | COL6A1 | c.1002+88C= (n.1002+88C=)
| |
21 | g.45990510C>G | CA749831628 | COL6A1 | c.1002+88C>G (n.1002+88C>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990510C>T | CA2654972514 | COL6A1 | c.1002+88C>T (n.1002+88C>T)
| gnomAD v4 |
21 | g.45990510_45990512del | CA2654972513 | COL6A1 | c.1002+88_1002+90del (n.1002+88_1002+90del)
| gnomAD v4 |
21 | g.45990512del | CA321964741 | COL6A1 | c.1002+90del (n.1002+90del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45990511_45990512del | CA2392434260 | COL6A1 | c.1002+89_1002+90del (n.1002+89_1002+90del)
| dbSNP |
21 | g.45990510_45990511insTCTTA | CA2654972517 | COL6A1 | c.1002+88_1002+89insTCTTA (n.1002+88_1002+89insTCTTA)
| gnomAD v4 |
21 | g.45990511C>A | CA1022881467 | COL6A1 | c.1002+89C>A (n.1002+89C>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990511C>G | CA1022881468 | COL6A1 | c.1002+89C>G (n.1002+89C>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990511C>T | CA1022881469 | COL6A1 | c.1002+89C>T (n.1002+89C>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990511_45990512insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC | CA2654972518 | COL6A1 | c.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC (n.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC)
| gnomAD v4 |
21 | g.45990516_45990517insTGGGTTGGGGTGGACAGTGTGAAGGTGACCGGGG | CA2654972515 | COL6A1 | c.1002+94_1002+95insTGGGTTGGGGTGGACAGTGTGAAGGTGACCGGGG (n.1002+94_1002+95insTGGGTTGGGGTGGACAGTGTGAAGGTGACCGGGG)
| gnomAD v4 |
21 | g.45990520_45990521insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG | CA2654972519 | COL6A1 | c.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG (n.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG)
| gnomAD v4 |
21 | g.45990521_45990522insGGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGA | CA2654972523 | COL6A1 | c.1002+99_1002+100insGGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGA (n.1002+99_1002+100insGGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGA)
| gnomAD v4 |
21 | g.45990531_45990532insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC | CA2654972520 | COL6A1 | c.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC (n.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC)
| gnomAD v4 |
21 | g.45990533_45990534insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAG | CA638178943 | COL6A1 | c.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAG)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990513_45990546dup | CA1022881466 | COL6A1 | c.1002+91_1002+124dup (n.1002+91_1002+124dup)
| gnomAD v3 gnomAD v4 |
21 | g.45990511_45990565del | CA2654972516 | COL6A1 | c.1002+89_1002+143del (n.1002+89_1002+143del)
| gnomAD v4 |
21 | g.45990568_45990569insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG | CA2654972522 | COL6A1 | c.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG (n.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG)
| gnomAD v4 |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA2654972521 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v4 |
21 | g.45990511_45990512insAGGGGACGGA | CA2654972527 | COL6A1 | c.1002+89_1002+90insAGGGGACGGA (n.1002+89_1002+90insAGGGGACGGA)
| gnomAD v4 |
21 | g.45990511_45990512insAGTGGAAGGACTGGGAGTGA | CA2818093075 | COL6A1 | c.1002+89_1002+90insAGTGGAAGGACTGGGAGTGA (n.1002+89_1002+90insAGTGGAAGGACTGGGAGTGA)
| |
21 | g.45990511_45990512insAGGGGAAGGCCGGGGAGGGA | CA1022881476 | COL6A1 | c.1002+89_1002+90insAGGGGAAGGCCGGGGAGGGA (n.1002+89_1002+90insAGGGGAAGGCCGGGGAGGGA)
| gnomAD v3 gnomAD v4 |
21 | g.45990511_45990512insAGGGGAAGGACGGGGAGGGA | CA1022881479 | COL6A1 | c.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA (n.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990511_45990512insAGGGGACGGACGGGGAGGGA | CA2654972525 | COL6A1 | c.1002+89_1002+90insAGGGGACGGACGGGGAGGGA (n.1002+89_1002+90insAGGGGACGGACGGGGAGGGA)
| gnomAD v4 |
21 | g.45990512C>A | CA638178944 | COL6A1 | c.1002+90C>A (n.1002+90C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990512C= | CA2392434262 | COL6A1 | c.1002+90C= (n.1002+90C=)
| |
21 | g.45990512C>G | CA638178945 | COL6A1 | c.1002+90C>G (n.1002+90C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990512C>T | CA321964748 | COL6A1 | c.1002+90C>T (n.1002+90C>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990512_45990513del | CA2654972524 | COL6A1 | c.1002+90_1002+91del (n.1002+90_1002+91del)
| gnomAD v4 |
21 | g.45990522_45990566del | CA2654972526 | COL6A1 | c.1002+100_1002+144del (n.1002+100_1002+144del)
| gnomAD v4 |
21 | g.45990529_45990583dup | CA2516619849 | COL6A1 | c.1002+107_1002+161dup (n.1002+107_1002+161dup)
| |
21 | g.45990529_45990583del | CA1022881474 | COL6A1 | c.1002+107_1002+161del (n.1002+107_1002+161del)
| gnomAD v3 gnomAD v4 |
21 | g.45990512_45990513insCA | CA1022881492 | COL6A1 | c.1002+90_1002+91insCA (n.1002+90_1002+91insCA)
| gnomAD v3 gnomAD v4 |
21 | g.45990512_45990513insCAG | CA2818093077 | COL6A1 | c.1002+90_1002+91insCAG (n.1002+90_1002+91insCAG)
| |
21 | g.45990513G>A | CA321964752 | COL6A1 | c.1002+91G>A (n.1002+91G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990513G>C | CA2654972528 | COL6A1 | c.1002+91G>C (n.1002+91G>C)
| gnomAD v4 |
21 | g.45990513G= | CA2392434263 | COL6A1 | c.1002+91G= (n.1002+91G=)
| |
21 | g.45990513G>T | CA2544938785 | COL6A1 | c.1002+91G>T (n.1002+91G>T)
| dbSNP gnomAD v4 |
21 | g.45990513_45990516del | CA2654972531 | COL6A1 | c.1002+91_1002+94del (n.1002+91_1002+94del)
| gnomAD v4 |
21 | g.45990516dup | CA2654972532 | COL6A1 | c.1002+94dup (n.1002+94dup)
| gnomAD v4 |
21 | g.45990516del | CA1022881486 | COL6A1 | c.1002+94del (n.1002+94del)
| gnomAD v3 gnomAD v4 |
21 | g.45990515_45990526dup | CA2737648876 | COL6A1 | c.1002+93_1002+104dup (n.1002+93_1002+104dup)
| dbSNP |
21 | g.45990513_45990530del | CA2654972530 | COL6A1 | c.1002+91_1002+108del (n.1002+91_1002+108del)
| gnomAD v4 |
21 | g.45990518_45990552dup | CA1022881488 | COL6A1 | c.1002+96_1002+130dup (n.1002+96_1002+130dup)
| gnomAD v3 gnomAD v4 |
21 | g.45990518_45990552del | CA2654972529 | COL6A1 | c.1002+96_1002+130del (n.1002+96_1002+130del)
| gnomAD v4 |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA2550858718 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA1022881490 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v3 gnomAD v4 |
21 | g.45990514G>C | CA2654972533 | COL6A1 | c.1002+92G>C (n.1002+92G>C)
| gnomAD v4 |
21 | g.45990514G>T | CA1022881497 | COL6A1 | c.1002+92G>T (n.1002+92G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990518_45990521del | CA2654972534 | COL6A1 | c.1002+96_1002+99del (n.1002+96_1002+99del)
| dbSNP gnomAD v4 |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA1022881496 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972535 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990520_45990612del | CA2654972536 | COL6A1 | c.1002+98_1003-161del (n.1002+98_1003-161del)
| gnomAD v4 |
21 | g.45990514_45990515insCA | CA2654972537 | COL6A1 | c.1002+92_1002+93insCA (n.1002+92_1002+93insCA)
| gnomAD v4 |
21 | g.45990515G>A | CA2654972538 | COL6A1 | c.1002+93G>A (n.1002+93G>A)
| gnomAD v4 |
21 | g.45990515G>T | CA2654972539 | COL6A1 | c.1002+93G>T (n.1002+93G>T)
| gnomAD v4 |
21 | g.45990516G>A | CA2527804630 | COL6A1 | c.1002+94G>A (n.1002+94G>A)
| gnomAD v4 |
21 | g.45990516G>C | CA2654972540 | COL6A1 | c.1002+94G>C (n.1002+94G>C)
| gnomAD v4 |
21 | g.45990516G>T | CA2654972541 | COL6A1 | c.1002+94G>T (n.1002+94G>T)
| gnomAD v4 |
21 | g.45990517_45990518del | CA1022881501 | COL6A1 | c.1002+95_1002+96del (n.1002+95_1002+96del)
| gnomAD v3 gnomAD v4 |
21 | g.45990517del | CA1022881504 | COL6A1 | c.1002+95del (n.1002+95del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990517A>C | CA1022881507 | COL6A1 | c.1002+95A>C (n.1002+95A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990517A>G | CA1022881510 | COL6A1 | c.1002+95A>G (n.1002+95A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990517A>T | CA2577628522 | COL6A1 | c.1002+95A>T (n.1002+95A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990517dup | CA1022881503 | COL6A1 | c.1002+95dup (n.1002+95dup)
| gnomAD v3 gnomAD v4 |
21 | g.45990517_45990522del | CA2654972543 | COL6A1 | c.1002+95_1002+100del (n.1002+95_1002+100del)
| gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGTAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972542 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGTAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGTAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990517_45990518insC | CA2654972544 | COL6A1 | c.1002+95_1002+96insC (n.1002+95_1002+96insC)
| gnomAD v4 |
21 | g.45990518G>A | CA321964754 | COL6A1 | c.1002+96G>A (n.1002+96G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990518G>C | CA2654972545 | COL6A1 | c.1002+96G>C (n.1002+96G>C)
| gnomAD v4 |
21 | g.45990518G= | CA2392434264 | COL6A1 | c.1002+96G= (n.1002+96G=)
| |
21 | g.45990518G>T | CA1022881515 | COL6A1 | c.1002+96G>T (n.1002+96G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990520del | CA2654972546 | COL6A1 | c.1002+98del (n.1002+98del)
| gnomAD v4 |
21 | g.45990521_45990525del | CA1022881518 | COL6A1 | c.1002+99_1002+103del (n.1002+99_1002+103del)
| gnomAD v3 gnomAD v4 |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA2654972547 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v4 |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA1022881517 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990519G>A | CA2654972551 | COL6A1 | c.1002+97G>A (n.1002+97G>A)
| gnomAD v4 |
21 | g.45990519G>C | CA2654972549 | COL6A1 | c.1002+97G>C (n.1002+97G>C)
| gnomAD v4 |
21 | g.45990519G>T | CA2654972548 | COL6A1 | c.1002+97G>T (n.1002+97G>T)
| gnomAD v4 |
21 | g.45990519_45990521del | CA1022881530 | COL6A1 | c.1002+97_1002+99del (n.1002+97_1002+99del)
| gnomAD v3 gnomAD v4 |
21 | g.45990521_45990524del | CA1022881529 | COL6A1 | c.1002+99_1002+102del (n.1002+99_1002+102del)
| gnomAD v3 gnomAD v4 |
21 | g.45990522_45990530del | CA2654972550 | COL6A1 | c.1002+100_1002+108del (n.1002+100_1002+108del)
| gnomAD v4 |
21 | g.45990519_45990520insAGATCGGAA | CA2654972552 | COL6A1 | c.1002+97_1002+98insAGATCGGAA (n.1002+97_1002+98insAGATCGGAA)
| gnomAD v4 |
21 | g.45990520G>A | CA2577628523 | COL6A1 | c.1002+98G>A (n.1002+98G>A)
| gnomAD v4 |
21 | g.45990520G>C | CA2654972553 | COL6A1 | c.1002+98G>C (n.1002+98G>C)
| dbSNP gnomAD v4 |
21 | g.45990520G>T | CA1022881535 | COL6A1 | c.1002+98G>T (n.1002+98G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990521del | CA1022881542 | COL6A1 | c.1002+99del (n.1002+99del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990521A= | CA2392434265 | COL6A1 | c.1002+99A= (n.1002+99A=)
| |
21 | g.45990521A>C | CA1022881544 | COL6A1 | c.1002+99A>C (n.1002+99A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990521A>G | CA1022881540 | COL6A1 | c.1002+99A>G (n.1002+99A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990521A>T | CA1022881539 | COL6A1 | c.1002+99A>T (n.1002+99A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990521_45990522del | CA1022881541 | COL6A1 | c.1002+99_1002+100del (n.1002+99_1002+100del)
| gnomAD v3 gnomAD v4 |
21 | g.45990546_45990547insGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACC | CA2654972554 | COL6A1 | c.1002+124_1002+125insGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA1022881537 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990522del | CA2654972557 | COL6A1 | c.1002+100del (n.1002+100del)
| gnomAD v4 |
21 | g.45990522T>A | CA1022881557 | COL6A1 | c.1002+100T>A (n.1002+100T>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990522T>C | CA321964758 | COL6A1 | c.1002+100T>C (n.1002+100T>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990522T>G | CA1022881561 | COL6A1 | c.1002+100T>G (n.1002+100T>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990522T= | CA2392434266 | COL6A1 | c.1002+100T= (n.1002+100T=)
| |
21 | g.45990522_45990527del | CA2654972559 | COL6A1 | c.1002+100_1002+105del (n.1002+100_1002+105del)
| gnomAD v4 |
21 | g.45990525_45990529del | CA2654972558 | COL6A1 | c.1002+103_1002+107del (n.1002+103_1002+107del)
| gnomAD v4 |
21 | g.45990546_45990547insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC | CA2654972555 | COL6A1 | c.1002+124_1002+125insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972556 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990532_45990624del | CA1022881555 | COL6A1 | c.1002+110_1003-149del (n.1002+110_1003-149del)
| gnomAD v3 gnomAD v4 |
21 | g.45990523G>A | CA638178946 | COL6A1 | c.1002+101G>A (n.1002+101G>A)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45990523G>C | CA2654972561 | COL6A1 | c.1002+101G>C (n.1002+101G>C)
| gnomAD v4 |
21 | g.45990523G= | CA2392434267 | COL6A1 | c.1002+101G= (n.1002+101G=)
| |
21 | g.45990523G>T | CA1022881565 | COL6A1 | c.1002+101G>T (n.1002+101G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990526del | CA2654972563 | COL6A1 | c.1002+104del (n.1002+104del)
| gnomAD v4 |
21 | g.45990546_45990547insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC | CA2654972564 | COL6A1 | c.1002+124_1002+125insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990527_45990571del | CA2654972562 | COL6A1 | c.1002+105_1002+149del (n.1002+105_1002+149del)
| gnomAD v4 |
21 | g.45990576_45990577insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA | CA2654972560 | COL6A1 | c.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA (n.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA)
| gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972565 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990524G>A | CA1022881566 | COL6A1 | c.1002+102G>A (n.1002+102G>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990524G>C | CA2654972567 | COL6A1 | c.1002+102G>C (n.1002+102G>C)
| gnomAD v4 |
21 | g.45990524G= | CA2392434268 | COL6A1 | c.1002+102G= (n.1002+102G=)
| |
21 | g.45990524G>T | CA1022881571 | COL6A1 | c.1002+102G>T (n.1002+102G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990546_45990547insGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACC | CA2654972566 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2818093085 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| |
21 | g.45990525G>A | CA2392434270 | COL6A1 | c.1002+103G>A (n.1002+103G>A)
| dbSNP gnomAD v4 |
21 | g.45990525G>C | CA1022881578 | COL6A1 | c.1002+103G>C (n.1002+103G>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990525G= | CA2392434269 | COL6A1 | c.1002+103G= (n.1002+103G=)
| |
21 | g.45990525G>T | CA2392434271 | COL6A1 | c.1002+103G>T (n.1002+103G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990546_45990547insGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACC | CA2654972568 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990526G>A | CA2654972570 | COL6A1 | c.1002+104G>A (n.1002+104G>A)
| gnomAD v4 |
21 | g.45990526G= | CA2392434272 | COL6A1 | c.1002+104G= (n.1002+104G=)
| |
21 | g.45990526G>T | CA321964768 | COL6A1 | c.1002+104G>T (n.1002+104G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990526_45990527insCGAGATGGGGAGGGACGGAG | CA2654972569 | COL6A1 | c.1002+104_1002+105insCGAGATGGGGAGGGACGGAG (n.1002+104_1002+105insCGAGATGGGGAGGGACGGAG)
| gnomAD v4 |
21 | g.45990526_45990527insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG | CA2654972572 | COL6A1 | c.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG (n.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG)
| gnomAD v4 |
21 | g.45990546_45990547insGGGGAGGGATGGAGTGGACAGTGTGAAGGTGACC | CA2654972573 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGGAGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGAGTGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972571 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990526_45990527insA | CA1022881595 | COL6A1 | c.1002+104_1002+105insA (n.1002+104_1002+105insA)
| gnomAD v3 gnomAD v4 |
21 | g.45990526_45990527insAGAGA | CA2818093086 | COL6A1 | c.1002+104_1002+105insAGAGA (n.1002+104_1002+105insAGAGA)
| |
21 | g.45990526_45990527insCGAGA | CA1022881594 | COL6A1 | c.1002+104_1002+105insCGAGA (n.1002+104_1002+105insCGAGA)
| gnomAD v3 gnomAD v4 |
21 | g.45990527del | CA2654972574 | COL6A1 | c.1002+105del (n.1002+105del)
| gnomAD v4 |
21 | g.45990527T>A | CA1022881593 | COL6A1 | c.1002+105T>A (n.1002+105T>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990527T>C | CA749831643 | COL6A1 | c.1002+105T>C (n.1002+105T>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990527T>G | CA1022881585 | COL6A1 | c.1002+105T>G (n.1002+105T>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990527T= | CA2392434273 | COL6A1 | c.1002+105T= (n.1002+105T=)
| |
21 | g.45990528G>A | CA749831645 | COL6A1 | c.1002+106G>A (n.1002+106G>A)
| dbSNP gnomAD v4 |
21 | g.45990528G>C | CA1022881598 | COL6A1 | c.1002+106G>C (n.1002+106G>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990528G= | CA2392434274 | COL6A1 | c.1002+106G= (n.1002+106G=)
| |
21 | g.45990528G>T | CA2654972575 | COL6A1 | c.1002+106G>T (n.1002+106G>T)
| gnomAD v4 |
21 | g.45990529_45990530insGGAGGG | CA2654972581 | COL6A1 | c.1002+107_1002+108insGGAGGG (n.1002+107_1002+108insGGAGGG)
| gnomAD v4 |
21 | g.45990529del | CA2654972577 | COL6A1 | c.1002+107del (n.1002+107del)
| gnomAD v4 |
21 | g.45990546_45990547insGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACC | CA2654972579 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990546_45990547insGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACC | CA2654972578 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990532_45990557del | CA1022881597 | COL6A1 | c.1002+110_1002+135del (n.1002+110_1002+135del)
| gnomAD v3 gnomAD v4 |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA1022881596 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972580 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990531_45990613del | CA2654972576 | COL6A1 | c.1002+109_1003-160del (n.1002+109_1003-160del)
| gnomAD v4 |
21 | g.45990529G>A | CA2654972584 | COL6A1 | c.1002+107G>A (n.1002+107G>A)
| gnomAD v4 |
21 | g.45990529G>C | CA2654972585 | COL6A1 | c.1002+107G>C (n.1002+107G>C)
| gnomAD v4 |
21 | g.45990529G>T | CA2654972586 | COL6A1 | c.1002+107G>T (n.1002+107G>T)
| gnomAD v4 |
21 | g.45990529_45990530del | CA2654972583 | COL6A1 | c.1002+107_1002+108del (n.1002+107_1002+108del)
| gnomAD v4 |
21 | g.45990529_45990531del | CA1022881603 | COL6A1 | c.1002+107_1002+109del (n.1002+107_1002+109del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990529_45990538del | CA1022881605 | COL6A1 | c.1002+107_1002+116del (n.1002+107_1002+116del)
| gnomAD v3 gnomAD v4 |
21 | g.45990546_45990547insGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACC | CA2654972582 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990530A>C | CA1022881609 | COL6A1 | c.1002+108A>C (n.1002+108A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990530A>G | CA1022881610 | COL6A1 | c.1002+108A>G (n.1002+108A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990530A>T | CA1022881611 | COL6A1 | c.1002+108A>T (n.1002+108A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990530_45990532del | CA1022881608 | COL6A1 | c.1002+108_1002+110del (n.1002+108_1002+110del)
| gnomAD v3 gnomAD v4 |
21 | g.45990531_45990532del | CA2654972588 | COL6A1 | c.1002+109_1002+110del (n.1002+109_1002+110del)
| gnomAD v4 |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA2654972587 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v4 |
21 | g.45990531C>A | CA1022881612 | COL6A1 | c.1002+109C>A (n.1002+109C>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990531C>G | CA1022881613 | COL6A1 | c.1002+109C>G (n.1002+109C>G)
| gnomAD v3 gnomAD v4 |
21 | g.45990531C>T | CA2654972590 | COL6A1 | c.1002+109C>T (n.1002+109C>T)
| gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972589 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990531_45990532insGG | CA2654972592 | COL6A1 | c.1002+109_1002+110insGG (n.1002+109_1002+110insGG)
| gnomAD v4 |
21 | g.45990531_45990532insGGCG | CA2654972591 | COL6A1 | c.1002+109_1002+110insGGCG (n.1002+109_1002+110insGGCG)
| gnomAD v4 |
21 | g.45990532A= | CA2392434275 | COL6A1 | c.1002+110A= (n.1002+110A=)
| |
21 | g.45990532A>C | CA1022881616 | COL6A1 | c.1002+110A>C (n.1002+110A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990532A>G | CA1022881614 | COL6A1 | c.1002+110A>G (n.1002+110A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990532A>T | CA2654972593 | COL6A1 | c.1002+110A>T (n.1002+110A>T)
| gnomAD v4 |
21 | g.45990546_45990547insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC | CA2654972594 | COL6A1 | c.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990532_45990547del | CA2818093091 | COL6A1 | c.1002+110_1002+125del (n.1002+110_1002+125del)
| |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA2591412908 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| gnomAD v3 gnomAD v4 |
21 | g.45990534_45990585del | CA2818093093 | COL6A1 | c.1002+112_1002+163del (n.1002+112_1002+163del)
| |
21 | g.45990532_45990625delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG | CA2392434276 | COL6A1 | c.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG (n.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG)
| |
21 | g.45990533G>A | CA2654972598 | COL6A1 | c.1002+111G>A (n.1002+111G>A)
| gnomAD v4 |
21 | g.45990533G>C | CA2654972597 | COL6A1 | c.1002+111G>C (n.1002+111G>C)
| gnomAD v4 |
21 | g.45990533G>T | CA2654972596 | COL6A1 | c.1002+111G>T (n.1002+111G>T)
| gnomAD v4 |
21 | g.45990536_45990537del | CA2654972600 | COL6A1 | c.1002+114_1002+115del (n.1002+114_1002+115del)
| gnomAD v4 |
21 | g.45990534_45990537del | CA2654972599 | COL6A1 | c.1002+112_1002+115del (n.1002+112_1002+115del)
| gnomAD v4 |
21 | g.45990546_45990547insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACC | CA2654972602 | COL6A1 | c.1002+124_1002+125insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACC (n.1002+124_1002+125insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACC)
| gnomAD v4 |
21 | g.45990534_45990559del | CA2654972601 | COL6A1 | c.1002+112_1002+137del (n.1002+112_1002+137del)
| gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGAACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA1022881620 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGAACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGAACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v3 gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972595 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990547_45990639del | CA1022881622 | COL6A1 | c.1002+125_1003-134del (n.1002+125_1003-134del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990533_45990534insA | CA1022881627 | COL6A1 | c.1002+111_1002+112insA (n.1002+111_1002+112insA)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990534del | CA1022881628 | COL6A1 | c.1002+112del (n.1002+112del)
| gnomAD v3 gnomAD v4 |
21 | g.45990534T>A | CA1022881632 | COL6A1 | c.1002+112T>A (n.1002+112T>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990534T>C | CA321964772 | COL6A1 | c.1002+112T>C (n.1002+112T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990534T>G | CA1022881639 | COL6A1 | c.1002+112T>G (n.1002+112T>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990534T= | CA2392434277 | COL6A1 | c.1002+112T= (n.1002+112T=)
| |
21 | g.45990534_45990544del | CA1022881631 | COL6A1 | c.1002+112_1002+122del (n.1002+112_1002+122del)
| gnomAD v3 gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972603 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990535del | CA2818093097 | COL6A1 | c.1002+113del (n.1002+113del)
| |
21 | g.45990535G>A | CA2654972606 | COL6A1 | c.1002+113G>A (n.1002+113G>A)
| gnomAD v4 |
21 | g.45990535G>C | CA2654972607 | COL6A1 | c.1002+113G>C (n.1002+113G>C)
| gnomAD v4 |
21 | g.45990535G>T | CA2591412911 | COL6A1 | c.1002+113G>T (n.1002+113G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990535_45990537del | CA2543072481 | COL6A1 | c.1002+113_1002+115del (n.1002+113_1002+115del)
| |
21 | g.45990543_45990544insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG | CA2654972605 | COL6A1 | c.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG (n.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG)
| gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972604 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990536del | CA2818093099 | COL6A1 | c.1002+114del (n.1002+114del)
| |
21 | g.45990536T>A | CA2591412912 | COL6A1 | c.1002+114T>A (n.1002+114T>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990536T>C | CA1022881642 | COL6A1 | c.1002+114T>C (n.1002+114T>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990536T>G | CA1022881648 | COL6A1 | c.1002+114T>G (n.1002+114T>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990536T= | CA2392434278 | COL6A1 | c.1002+114T= (n.1002+114T=)
| |
21 | g.45990537G>A | CA2654972608 | COL6A1 | c.1002+115G>A (n.1002+115G>A)
| gnomAD v4 |
21 | g.45990537G>C | CA1022881653 | COL6A1 | c.1002+115G>C (n.1002+115G>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990537G>T | CA2654972609 | COL6A1 | c.1002+115G>T (n.1002+115G>T)
| gnomAD v4 |
21 | g.45990538A>C | CA1022881656 | COL6A1 | c.1002+116A>C (n.1002+116A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990538A>G | CA1022881657 | COL6A1 | c.1002+116A>G (n.1002+116A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990538A>T | CA2654972610 | COL6A1 | c.1002+116A>T (n.1002+116A>T)
| dbSNP gnomAD v4 |
21 | g.45990539A>C | CA1022881661 | COL6A1 | c.1002+117A>C (n.1002+117A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990539A>G | CA1022881659 | COL6A1 | c.1002+117A>G (n.1002+117A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990539A>T | CA1022881660 | COL6A1 | c.1002+117A>T (n.1002+117A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990545_45990589del | CA2654972611 | COL6A1 | c.1002+123_1002+167del (n.1002+123_1002+167del)
| gnomAD v4 |
21 | g.45990539_45990540insCT | CA2818093107 | COL6A1 | c.1002+117_1002+118insCT (n.1002+117_1002+118insCT)
| |
21 | g.45990540G>A | CA2654972614 | COL6A1 | c.1002+118G>A (n.1002+118G>A)
| gnomAD v4 |
21 | g.45990540G>C | CA2654972612 | COL6A1 | c.1002+118G>C (n.1002+118G>C)
| gnomAD v4 |
21 | g.45990540G>T | CA2654972613 | COL6A1 | c.1002+118G>T (n.1002+118G>T)
| gnomAD v4 |
21 | g.45990541dup | CA2654972615 | COL6A1 | c.1002+119dup (n.1002+119dup)
| gnomAD v4 |
21 | g.45990540_45990551del | CA2818093108 | COL6A1 | c.1002+118_1002+129del (n.1002+118_1002+129del)
| |
21 | g.45990541G>A | CA1022881662 | COL6A1 | c.1002+119G>A (n.1002+119G>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990541G>C | CA1022881663 | COL6A1 | c.1002+119G>C (n.1002+119G>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990541G>T | CA2547217961 | COL6A1 | c.1002+119G>T (n.1002+119G>T)
| gnomAD v4 |
21 | g.45990541_45990542insCG | CA2818093109 | COL6A1 | c.1002+119_1002+120insCG (n.1002+119_1002+120insCG)
| |
21 | g.45990541_45990542insC | CA2654972616 | COL6A1 | c.1002+119_1002+120insC (n.1002+119_1002+120insC)
| gnomAD v4 |
21 | g.45990541_45990542insCTGTC | CA2654972617 | COL6A1 | c.1002+119_1002+120insCTGTC (n.1002+119_1002+120insCTGTC)
| gnomAD v4 |
21 | g.45990541_45990542insCTGTCTCTTA | CA2654972618 | COL6A1 | c.1002+119_1002+120insCTGTCTCTTA (n.1002+119_1002+120insCTGTCTCTTA)
| gnomAD v4 |
21 | g.45990542del | CA1022881679 | COL6A1 | c.1002+120del (n.1002+120del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990542T>A | CA1022881681 | COL6A1 | c.1002+120T>A (n.1002+120T>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990542T>C | CA1022881683 | COL6A1 | c.1002+120T>C (n.1002+120T>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990542T>G | CA1022881685 | COL6A1 | c.1002+120T>G (n.1002+120T>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990542T= | CA2392434279 | COL6A1 | c.1002+120T= (n.1002+120T=)
| |
21 | g.45990542_45990543insA | CA2654972621 | COL6A1 | c.1002+120_1002+121insA (n.1002+120_1002+121insA)
| gnomAD v4 |
21 | g.45990543G>A | CA2654972619 | COL6A1 | c.1002+121G>A (n.1002+121G>A)
| gnomAD v4 |
21 | g.45990543G>C | CA2654972620 | COL6A1 | c.1002+121G>C (n.1002+121G>C)
| gnomAD v4 |
21 | g.45990543G>T | CA1022881686 | COL6A1 | c.1002+121G>T (n.1002+121G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990543_45990544insTCTCTT | CA2654972622 | COL6A1 | c.1002+121_1002+122insTCTCTT (n.1002+121_1002+122insTCTCTT)
| gnomAD v4 |
21 | g.45990544A= | CA2392434280 | COL6A1 | c.1002+122A= (n.1002+122A=)
| |
21 | g.45990544A>C | CA2591412918 | COL6A1 | c.1002+122A>C (n.1002+122A>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990544A>G | CA321964785 | COL6A1 | c.1002+122A>G (n.1002+122A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990544A>T | CA2654972623 | COL6A1 | c.1002+122A>T (n.1002+122A>T)
| gnomAD v4 |
21 | g.45990544_45990545insGC | CA2818093111 | COL6A1 | c.1002+122_1002+123insGC (n.1002+122_1002+123insGC)
| |
21 | g.45990545C>A | CA1022881696 | COL6A1 | c.1002+123C>A (n.1002+123C>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990545C= | CA2392434283 | COL6A1 | c.1002+123C= (n.1002+123C=)
| |
21 | g.45990545C>G | CA1022881694 | COL6A1 | c.1002+123C>G (n.1002+123C>G)
| gnomAD v3 gnomAD v4 |
21 | g.45990545C>T | CA1022881693 | COL6A1 | c.1002+123C>T (n.1002+123C>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990546del | CA2654972624 | COL6A1 | c.1002+124del (n.1002+124del)
| gnomAD v4 |
21 | g.45990545_45990551del | CA2818093110 | COL6A1 | c.1002+123_1002+129del (n.1002+123_1002+129del)
| |
21 | g.45990545_45990556delinsCCAGGGGAAGGA | CA2392434282 | COL6A1 | c.1002+123_1002+134delinsCCAGGGGAAGGA (n.1002+123_1002+134delinsCCAGGGGAAGGA)
| |
21 | g.45990545_45990566delinsCCAGGGGAAGGACGGGGAGGGA | CA2392434281 | COL6A1 | c.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA (n.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA)
| |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG | CA1022881700 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990552_45990646del | CA1022881704 | COL6A1 | c.1002+130_1003-127del (n.1002+130_1003-127del)
| gnomAD v3 gnomAD v4 |
21 | g.45990546C>A | CA1022881718 | COL6A1 | c.1002+124C>A (n.1002+124C>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990546C= | CA2392434284 | COL6A1 | c.1002+124C= (n.1002+124C=)
| |
21 | g.45990546C>G | CA1022881720 | COL6A1 | c.1002+124C>G (n.1002+124C>G)
| gnomAD v3 gnomAD v4 |
21 | g.45990546C>T | CA2654972625 | COL6A1 | c.1002+124C>T (n.1002+124C>T)
| gnomAD v4 |
21 | g.45990546_45990547del | CA1022881725 | COL6A1 | c.1002+124_1002+125del (n.1002+124_1002+125del)
| gnomAD v3 gnomAD v4 |
21 | g.45990546_45990547delinsCA | CA2392434285 | COL6A1 | c.1002+124_1002+125delinsCA (n.1002+124_1002+125delinsCA)
| |
21 | g.45990546_45990549del | CA1022881708 | COL6A1 | c.1002+124_1002+127del (n.1002+124_1002+127del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990547_45990557del | CA638178948 | COL6A1 | c.1002+125_1002+135del (n.1002+125_1002+135del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990547_45990567del | CA638178947 | COL6A1 | c.1002+125_1002+145del (n.1002+125_1002+145del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990546_45990627del | CA1022881711 | COL6A1 | c.1002+124_1003-146del (n.1002+124_1003-146del)
| gnomAD v3 gnomAD v4 |
21 | g.45990546_45990547insGGGG | CA2654972626 | COL6A1 | c.1002+124_1002+125insGGGG (n.1002+124_1002+125insGGGG)
| gnomAD v4 |
21 | g.45990546_45990547insCGGGG | CA1022881732 | COL6A1 | c.1002+124_1002+125insCGGGG (n.1002+124_1002+125insCGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990547del | CA321964797 | COL6A1 | c.1002+125del (n.1002+125del)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
21 | g.45990547A= | CA2392434286 | COL6A1 | c.1002+125A= (n.1002+125A=)
| |
21 | g.45990547A>C | CA321964804 | COL6A1 | c.1002+125A>C (n.1002+125A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990547A>G | CA638178950 | COL6A1 | c.1002+125A>G (n.1002+125A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990547A>T | CA2591412925 | COL6A1 | c.1002+125A>T (n.1002+125A>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990547_45990556del | CA1022881734 | COL6A1 | c.1002+125_1002+134del (n.1002+125_1002+134del)
| gnomAD v3 gnomAD v4 |
21 | g.45990547_45990557delinsAGGGGAAGGAC | CA2392434287 | COL6A1 | c.1002+125_1002+135delinsAGGGGAAGGAC (n.1002+125_1002+135delinsAGGGGAAGGAC)
| |
21 | g.45990547_45990566del | CA638178949 | COL6A1 | c.1002+125_1002+144del (n.1002+125_1002+144del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990548G>A | CA1022881743 | COL6A1 | c.1002+126G>A (n.1002+126G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990548G>C | CA2654972628 | COL6A1 | c.1002+126G>C (n.1002+126G>C)
| gnomAD v4 |
21 | g.45990548G= | CA2392434289 | COL6A1 | c.1002+126G= (n.1002+126G=)
| |
21 | g.45990548G>T | CA2499715284 | COL6A1 | c.1002+126G>T (n.1002+126G>T)
| gnomAD v4 |
21 | g.45990551del | CA2654972627 | COL6A1 | c.1002+129del (n.1002+129del)
| gnomAD v4 |
21 | g.45990550_45990551del | CA2818093115 | COL6A1 | c.1002+128_1002+129del (n.1002+128_1002+129del)
| |
21 | g.45990553_45990562dup | CA2392434288 | COL6A1 | c.1002+131_1002+140dup (n.1002+131_1002+140dup)
| dbSNP gnomAD v4 |
21 | g.45990553_45990562del | CA1022881758 | COL6A1 | c.1002+131_1002+140del (n.1002+131_1002+140del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2818093116 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| |
21 | g.45990548_45990549insAT | CA2654972629 | COL6A1 | c.1002+126_1002+127insAT (n.1002+126_1002+127insAT)
| gnomAD v4 |
21 | g.45990548_45990549insATC | CA2654972630 | COL6A1 | c.1002+126_1002+127insATC (n.1002+126_1002+127insATC)
| gnomAD v4 |
21 | g.45990549G>A | CA1022881760 | COL6A1 | c.1002+127G>A (n.1002+127G>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990549G>C | CA2392434290 | COL6A1 | c.1002+127G>C (n.1002+127G>C)
| dbSNP gnomAD v4 |
21 | g.45990549G= | CA2392434291 | COL6A1 | c.1002+127G= (n.1002+127G=)
| |
21 | g.45990549G>T | CA1022881761 | COL6A1 | c.1002+127G>T (n.1002+127G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990549_45990550insATC | CA2654972632 | COL6A1 | c.1002+127_1002+128insATC (n.1002+127_1002+128insATC)
| gnomAD v4 |
21 | g.45990550G>A | CA2654972633 | COL6A1 | c.1002+128G>A (n.1002+128G>A)
| gnomAD v4 |
21 | g.45990550G>C | CA2526343973 | COL6A1 | c.1002+128G>C (n.1002+128G>C)
| gnomAD v4 |
21 | g.45990550G>T | CA1022881762 | COL6A1 | c.1002+128G>T (n.1002+128G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990550_45990552del | CA2654972631 | COL6A1 | c.1002+128_1002+130del (n.1002+128_1002+130del)
| gnomAD v4 |
21 | g.45990553_45990556del | CA2818093117 | COL6A1 | c.1002+131_1002+134del (n.1002+131_1002+134del)
| |
21 | g.45990550_45990551insATGGGGTGGACAGTGT | CA1022881764 | COL6A1 | c.1002+128_1002+129insATGGGGTGGACAGTGT (n.1002+128_1002+129insATGGGGTGGACAGTGT)
| gnomAD v3 gnomAD v4 |
21 | g.45990551G>A | CA2654972634 | COL6A1 | c.1002+129G>A (n.1002+129G>A)
| gnomAD v4 |
21 | g.45990551G>C | CA2654972635 | COL6A1 | c.1002+129G>C (n.1002+129G>C)
| gnomAD v4 |
21 | g.45990551G>T | CA2591412932 | COL6A1 | c.1002+129G>T (n.1002+129G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990552A>C | CA1022881774 | COL6A1 | c.1002+130A>C (n.1002+130A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990552A>G | CA1022881784 | COL6A1 | c.1002+130A>G (n.1002+130A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990552A>T | CA1022881785 | COL6A1 | c.1002+130A>T (n.1002+130A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990552_45990556del | CA2654972636 | COL6A1 | c.1002+130_1002+134del (n.1002+130_1002+134del)
| gnomAD v4 |
21 | g.45990552_45990557del | CA1022881772 | COL6A1 | c.1002+130_1002+135del (n.1002+130_1002+135del)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990552_45990553insG | CA1022881789 | COL6A1 | c.1002+130_1002+131insG (n.1002+130_1002+131insG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990553A= | CA2392434293 | COL6A1 | c.1002+131A= (n.1002+131A=)
| |
21 | g.45990553A>C | CA1022881791 | COL6A1 | c.1002+131A>C (n.1002+131A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990553A>G | CA638178951 | COL6A1 | c.1002+131A>G (n.1002+131A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990553A>T | CA749831662 | COL6A1 | c.1002+131A>T (n.1002+131A>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990553_45990563delinsAGGACGGGGAG | CA2392434292 | COL6A1 | c.1002+131_1002+141delinsAGGACGGGGAG (n.1002+131_1002+141delinsAGGACGGGGAG)
| |
21 | g.45990554G>A | CA1022881802 | COL6A1 | c.1002+132G>A (n.1002+132G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990554G= | CA2392434294 | COL6A1 | c.1002+132G= (n.1002+132G=)
| |
21 | g.45990554G>T | CA2654972638 | COL6A1 | c.1002+132G>T (n.1002+132G>T)
| gnomAD v4 |
21 | g.45990554_45990555insATCG | CA2654972639 | COL6A1 | c.1002+132_1002+133insATCG (n.1002+132_1002+133insATCG)
| gnomAD v4 |
21 | g.45990554_45990555del | CA2818093123 | COL6A1 | c.1002+132_1002+133del (n.1002+132_1002+133del)
| |
21 | g.45990567_45990576dup | CA2654972637 | COL6A1 | c.1002+145_1002+154dup (n.1002+145_1002+154dup)
| gnomAD v4 |
21 | g.45990567_45990576del | CA638178952 | COL6A1 | c.1002+145_1002+154del (n.1002+145_1002+154del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972640 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990554_45990555insAA | CA2654972641 | COL6A1 | c.1002+132_1002+133insAA (n.1002+132_1002+133insAA)
| gnomAD v4 |
21 | g.45990555G>A | CA2654972644 | COL6A1 | c.1002+133G>A (n.1002+133G>A)
| gnomAD v4 |
21 | g.45990555G>C | CA2654972645 | COL6A1 | c.1002+133G>C (n.1002+133G>C)
| gnomAD v4 |
21 | g.45990555G>T | CA2654972646 | COL6A1 | c.1002+133G>T (n.1002+133G>T)
| gnomAD v4 |
21 | g.45990555_45990556insTG | CA2654972643 | COL6A1 | c.1002+133_1002+134insTG (n.1002+133_1002+134insTG)
| gnomAD v4 |
21 | g.45990555_45990556insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG | CA2654972642 | COL6A1 | c.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG (n.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG)
| gnomAD v4 |
21 | g.45990556A= | CA2392434295 | COL6A1 | c.1002+134A= (n.1002+134A=)
| |
21 | g.45990556A>C | CA1022881805 | COL6A1 | c.1002+134A>C (n.1002+134A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990556A>G | CA1022881808 | COL6A1 | c.1002+134A>G (n.1002+134A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990556A>T | CA2591412936 | COL6A1 | c.1002+134A>T (n.1002+134A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990556_45990557insT | CA2654972647 | COL6A1 | c.1002+134_1002+135insT (n.1002+134_1002+135insT)
| gnomAD v4 |
21 | g.45990557C>A | CA1022881810 | COL6A1 | c.1002+135C>A (n.1002+135C>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990557C= | CA2392434296 | COL6A1 | c.1002+135C= (n.1002+135C=)
| |
21 | g.45990557C>G | CA1022881812 | COL6A1 | c.1002+135C>G (n.1002+135C>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990557C>T | CA749831671 | COL6A1 | c.1002+135C>T (n.1002+135C>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990558G>A | CA638178953 | COL6A1 | c.1002+136G>A (n.1002+136G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990558G>C | CA2654972651 | COL6A1 | c.1002+136G>C (n.1002+136G>C)
| gnomAD v4 |
21 | g.45990558G= | CA2392434297 | COL6A1 | c.1002+136G= (n.1002+136G=)
| |
21 | g.45990558G>T | CA2654972650 | COL6A1 | c.1002+136G>T (n.1002+136G>T)
| gnomAD v4 |
21 | g.45990559_45990561del | CA2818093127 | COL6A1 | c.1002+137_1002+139del (n.1002+137_1002+139del)
| |
21 | g.45990561_45990571del | CA2654972652 | COL6A1 | c.1002+139_1002+149del (n.1002+139_1002+149del)
| gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972648 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGGATGGGGTGAG | CA2654972649 | COL6A1 | c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGGATGGGGTGAG)
| gnomAD v4 |
21 | g.45990559G>A | CA1022881824 | COL6A1 | c.1002+137G>A (n.1002+137G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990559G>C | CA2654972654 | COL6A1 | c.1002+137G>C (n.1002+137G>C)
| gnomAD v4 |
21 | g.45990559G= | CA2392434298 | COL6A1 | c.1002+137G= (n.1002+137G=)
| |
21 | g.45990559G>T | CA1022881827 | COL6A1 | c.1002+137G>T (n.1002+137G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990559_45990596del | CA1022881821 | COL6A1 | c.1002+137_1002+174del (n.1002+137_1002+174del)
| gnomAD v3 gnomAD v4 |
21 | g.45990565_45990612del | CA2654972653 | COL6A1 | c.1002+143_1003-161del (n.1002+143_1003-161del)
| gnomAD v4 |
21 | g.45990559_45990560insA | CA2654972655 | COL6A1 | c.1002+137_1002+138insA (n.1002+137_1002+138insA)
| gnomAD v4 |
21 | g.45990559_45990560insATC | CA2654972656 | COL6A1 | c.1002+137_1002+138insATC (n.1002+137_1002+138insATC)
| gnomAD v4 |
21 | g.45990559_45990560insCGT | CA1022881829 | COL6A1 | c.1002+137_1002+138insCGT (n.1002+137_1002+138insCGT)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990559_45990560insTCTC | CA2818093129 | COL6A1 | c.1002+137_1002+138insTCTC (n.1002+137_1002+138insTCTC)
| |
21 | g.45990560G>A | CA2654972657 | COL6A1 | c.1002+138G>A (n.1002+138G>A)
| gnomAD v4 |
21 | g.45990560G>C | CA1022881832 | COL6A1 | c.1002+138G>C (n.1002+138G>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990560G>T | CA2654972658 | COL6A1 | c.1002+138G>T (n.1002+138G>T)
| gnomAD v4 |
21 | g.45990568_45990605dup | CA1022881830 | COL6A1 | c.1002+146_1003-168dup (n.1002+146_1003-168dup)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990568_45990605del | CA1022881831 | COL6A1 | c.1002+146_1003-168del (n.1002+146_1003-168del)
| gnomAD v3 gnomAD v4 |
21 | g.45990561G>A | CA1022881833 | COL6A1 | c.1002+139G>A (n.1002+139G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990561G>C | CA2654972659 | COL6A1 | c.1002+139G>C (n.1002+139G>C)
| gnomAD v4 |
21 | g.45990561G= | CA2392434299 | COL6A1 | c.1002+139G= (n.1002+139G=)
| |
21 | g.45990561G>T | CA2392434300 | COL6A1 | c.1002+139G>T (n.1002+139G>T)
| dbSNP gnomAD v4 |
21 | g.45990562del | CA1022881834 | COL6A1 | c.1002+140del (n.1002+140del)
| gnomAD v3 gnomAD v4 |
21 | g.45990562A= | CA2392434301 | COL6A1 | c.1002+140A= (n.1002+140A=)
| |
21 | g.45990562A>C | CA1022881835 | COL6A1 | c.1002+140A>C (n.1002+140A>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990562A>G | CA1022881837 | COL6A1 | c.1002+140A>G (n.1002+140A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990562A>T | CA2654972660 | COL6A1 | c.1002+140A>T (n.1002+140A>T)
| gnomAD v4 |
21 | g.45990562_45990563insTC | CA2818093132 | COL6A1 | c.1002+140_1002+141insTC (n.1002+140_1002+141insTC)
| |
21 | g.45990563G>A | CA321964806 | COL6A1 | c.1002+141G>A (n.1002+141G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990563G= | CA2392434302 | COL6A1 | c.1002+141G= (n.1002+141G=)
| |
21 | g.45990563G>T | CA1022881842 | COL6A1 | c.1002+141G>T (n.1002+141G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990563_45990565del | CA2818093133 | COL6A1 | c.1002+141_1002+143del (n.1002+141_1002+143del)
| |
21 | g.45990564_45990565del | CA2654972661 | COL6A1 | c.1002+142_1002+143del (n.1002+142_1002+143del)
| gnomAD v4 |
21 | g.45990564_45990583del | CA2654972662 | COL6A1 | c.1002+142_1002+161del (n.1002+142_1002+161del)
| gnomAD v4 |
21 | g.45990564G>A | CA2654972666 | COL6A1 | c.1002+142G>A (n.1002+142G>A)
| gnomAD v4 |
21 | g.45990564G>T | CA2654972663 | COL6A1 | c.1002+142G>T (n.1002+142G>T)
| gnomAD v4 |
21 | g.45990566_45990567insTGGGGAGGGATGGGGTGGA | CA2591412946 | COL6A1 | c.1002+144_1002+145insTGGGGAGGGATGGGGTGGA (n.1002+144_1002+145insTGGGGAGGGATGGGGTGGA)
| gnomAD v3 gnomAD v4 |
21 | g.45990567_45990613del | CA2654972665 | COL6A1 | c.1002+145_1003-160del (n.1002+145_1003-160del)
| gnomAD v4 |
21 | g.45990570_45990626del | CA2654972664 | COL6A1 | c.1002+148_1003-147del (n.1002+148_1003-147del)
| gnomAD v4 |
21 | g.45990564_45990565insT | CA1022881848 | COL6A1 | c.1002+142_1002+143insT (n.1002+142_1002+143insT)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990564_45990565insAATGGGGCGA | CA2654972667 | COL6A1 | c.1002+142_1002+143insAATGGGGCGA (n.1002+142_1002+143insAATGGGGCGA)
| gnomAD v4 |
21 | g.45990565G>A | CA638178954 | COL6A1 | c.1002+143G>A (n.1002+143G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990565G= | CA2392434303 | COL6A1 | c.1002+143G= (n.1002+143G=)
| |
21 | g.45990565G>T | CA1022881849 | COL6A1 | c.1002+143G>T (n.1002+143G>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990566_45990585del | CA2654972668 | COL6A1 | c.1002+144_1002+163del (n.1002+144_1002+163del)
| gnomAD v4 |
21 | g.45990566A= | CA2392434304 | COL6A1 | c.1002+144A= (n.1002+144A=)
| |
21 | g.45990566A>C | CA1022881851 | COL6A1 | c.1002+144A>C (n.1002+144A>C)
| gnomAD v3 gnomAD v4 |
21 | g.45990566A>G | CA1022881852 | COL6A1 | c.1002+144A>G (n.1002+144A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990566A>T | CA1022881853 | COL6A1 | c.1002+144A>T (n.1002+144A>T)
| gnomAD v3 gnomAD v4 |
21 | g.45990567C>A | CA2654972669 | COL6A1 | c.1002+145C>A (n.1002+145C>A)
| gnomAD v4 |
21 | g.45990567C= | CA2392434305 | COL6A1 | c.1002+145C= (n.1002+145C=)
| |
21 | g.45990567C>G | CA749831682 | COL6A1 | c.1002+145C>G (n.1002+145C>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990567C>T | CA15984378 | COL6A1 | c.1002+145C>T (n.1002+145C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990567_45990568insCC | CA1022881856 | COL6A1 | c.1002+145_1002+146insCC (n.1002+145_1002+146insCC)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990567_45990574del | CA2654972671 | COL6A1 | c.1002+145_1002+152del (n.1002+145_1002+152del)
| gnomAD v4 |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG | CA1022881855 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990567_45990586del | CA2654972670 | COL6A1 | c.1002+145_1002+164del (n.1002+145_1002+164del)
| gnomAD v4 |
21 | g.45990567_45990614del | CA1022881854 | COL6A1 | c.1002+145_1003-159del (n.1002+145_1003-159del)
| gnomAD v3 gnomAD v4 |
21 | g.45990567_45990568insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT | CA2591412947 | COL6A1 | c.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT (n.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT)
| gnomAD v3 gnomAD v4 |
21 | g.45990567_45990568insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT | CA1022881860 | COL6A1 | c.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT (n.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT)
| gnomAD v3 gnomAD v4 |
21 | g.45990568G>A | CA638178956 | COL6A1 | c.1002+146G>A (n.1002+146G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990568G>C | CA2392434307 | COL6A1 | c.1002+146G>C (n.1002+146G>C)
| dbSNP gnomAD v4 |
21 | g.45990568G= | CA2392434306 | COL6A1 | c.1002+146G= (n.1002+146G=)
| |
21 | g.45990568G>T | CA2654972672 | COL6A1 | c.1002+146G>T (n.1002+146G>T)
| gnomAD v4 |
21 | g.45990571del | CA2654972677 | COL6A1 | c.1002+149del (n.1002+149del)
| gnomAD v4 |
21 | g.45990570_45990571del | CA2654972676 | COL6A1 | c.1002+148_1002+149del (n.1002+148_1002+149del)
| gnomAD v4 |
21 | g.45990568_45990576del | CA2654972675 | COL6A1 | c.1002+146_1002+154del (n.1002+146_1002+154del)
| gnomAD v4 |
21 | g.45990581_45990582insCGAGATGGGGAGGGATGGGG | CA2654972679 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGATGGGG)
| gnomAD v4 |
21 | g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGG | CA2654972678 | COL6A1 | c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGG)
| gnomAD v4 |
21 | g.45990572_45990581dup | CA638178955 | COL6A1 | c.1002+150_1002+159dup (n.1002+150_1002+159dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990572_45990581del | CA2654972674 | COL6A1 | c.1002+150_1002+159del (n.1002+150_1002+159del)
| gnomAD v4 |
21 | g.45990583_45990584insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG | CA2654972673 | COL6A1 | c.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG (n.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG)
| gnomAD v4 |
21 | g.45990569G>A | CA638178957 | COL6A1 | c.1002+147G>A (n.1002+147G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990569G>C | CA2654972681 | COL6A1 | c.1002+147G>C (n.1002+147G>C)
| gnomAD v4 |
21 | g.45990569G= | CA2392434308 | COL6A1 | c.1002+147G= (n.1002+147G=)
| |
21 | g.45990569G>T | CA2654972682 | COL6A1 | c.1002+147G>T (n.1002+147G>T)
| gnomAD v4 |
21 | g.45990575_45990612del | CA2654972680 | COL6A1 | c.1002+153_1003-161del (n.1002+153_1003-161del)
| gnomAD v4 |
21 | g.45990570G>A | CA1022881863 | COL6A1 | c.1002+148G>A (n.1002+148G>A)
| gnomAD v3 gnomAD v4 |
21 | g.45990570G>T | CA2654972683 | COL6A1 | c.1002+148G>T (n.1002+148G>T)
| gnomAD v4 |
21 | g.45990571G>A | CA2654972684 | COL6A1 | c.1002+149G>A (n.1002+149G>A)
| gnomAD v4 |
21 | g.45990571G>T | CA2654972685 | COL6A1 | c.1002+149G>T (n.1002+149G>T)
| gnomAD v4 |
21 | g.45990572A= | CA2392434309 | COL6A1 | c.1002+150A= (n.1002+150A=)
| |
21 | g.45990572A>C | CA638178958 | COL6A1 | c.1002+150A>C (n.1002+150A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990572A>G | CA749831697 | COL6A1 | c.1002+150A>G (n.1002+150A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990572A>T | CA1022881871 | COL6A1 | c.1002+150A>T (n.1002+150A>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990573G>A | CA2654972687 | COL6A1 | c.1002+151G>A (n.1002+151G>A)
| gnomAD v4 |
21 | g.45990573G>C | CA2818093134 | COL6A1 | c.1002+151G>C (n.1002+151G>C)
| |
21 | g.45990573G>T | CA2654972688 | COL6A1 | c.1002+151G>T (n.1002+151G>T)
| gnomAD v4 |
21 | g.45990574_45990619del | CA2654972686 | COL6A1 | c.1002+152_1003-154del (n.1002+152_1003-154del)
| gnomAD v4 |
21 | g.45990574G>A | CA638178959 | COL6A1 | c.1002+152G>A (n.1002+152G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990574G= | CA2392434310 | COL6A1 | c.1002+152G= (n.1002+152G=)
| |
21 | g.45990574G>T | CA2654972689 | COL6A1 | c.1002+152G>T (n.1002+152G>T)
| gnomAD v4 |
21 | g.45990575G>A | CA638178960 | COL6A1 | c.1002+153G>A (n.1002+153G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45990575G>C | CA1022881872 | COL6A1 | c.1002+153G>C (n.1002+153G>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45990575G= | CA2392434311 | COL6A1 | c.1002+153G= (n.1002+153G=)
| |
21 | g.45990575G>T | CA749831708 | COL6A1 | c.1002+153G>T (n.1002+153G>T)
| dbSNP gnomAD v3 gnomAD v4 |