Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.110168320_110172666del | CA2580616537 | COL4A1 | c.3556+54_3877-1090del c.3364+54_3685-1090del | ClinVar |
13 | g.110169565_110169574del | CA2575454094 | COL4A1 | c.3876+57_3876+66del (n.3876+57_3876+66del) c.32+57_32+66del c.3684+57_3684+66del (n.3684+57_3684+66del) | gnomAD v4 |
13 | g.110169564_110169566delinsCAT | CA2118732640 | COL4A1 | c.3876+63_3876+65delinsATG (n.3876+63_3876+65delinsATG) c.32+63_32+65delinsATG c.3684+63_3684+65delinsATG (n.3684+63_3684+65delinsATG) | |
13 | g.110169567_110169568del | CA612622575 | COL4A1 | c.3876+63_3876+64del (n.3876+63_3876+64del) c.32+63_32+64del c.3684+63_3684+64del (n.3684+63_3684+64del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169566T>C | CA695031780 | COL4A1 | c.3876+63A>G (n.3876+63A>G) c.32+63A>G c.3684+63A>G (n.3684+63A>G) | dbSNP gnomAD v4 |
13 | g.110169566T= | CA2118732643 | COL4A1 | c.3876+63A= (n.3876+63A=) c.32+63A= c.3684+63A= (n.3684+63A=) | |
13 | g.110169567A= | CA2118732645 | COL4A1 | c.3876+62T= (n.3876+62T=) c.32+62T= c.3684+62T= (n.3684+62T=) | |
13 | g.110169567A>G | CA960159740 | COL4A1 | c.3876+62T>C (n.3876+62T>C) c.32+62T>C c.3684+62T>C (n.3684+62T>C) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169569_110169572del | CA2623672725 | COL4A1 | c.3876+59_3876+62del (n.3876+59_3876+62del) c.32+59_32+62del c.3684+59_3684+62del (n.3684+59_3684+62del) | gnomAD v4 |
13 | g.110169568T>A | CA2118732647 | COL4A1 | c.3876+61A>T (n.3876+61A>T) c.32+61A>T c.3684+61A>T (n.3684+61A>T) | dbSNP gnomAD v4 |
13 | g.110169568T>C | CA960159743 | COL4A1 | c.3876+61A>G (n.3876+61A>G) c.32+61A>G c.3684+61A>G (n.3684+61A>G) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169568T= | CA2118732646 | COL4A1 | c.3876+61A= (n.3876+61A=) c.32+61A= c.3684+61A= (n.3684+61A=) | |
13 | g.110169569G>A | CA256250713 | COL4A1 | c.3876+60C>T (n.3876+60C>T) c.32+60C>T c.3684+60C>T (n.3684+60C>T) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169569G= | CA2118732649 | COL4A1 | c.3876+60C= (n.3876+60C=) c.32+60C= c.3684+60C= (n.3684+60C=) | |
13 | g.110169569G>T | CA2842530593 | COL4A1 | c.3876+60C>A (n.3876+60C>A) c.32+60C>A c.3684+60C>A (n.3684+60C>A) | |
13 | g.110169570A>G | CA2623672726 | COL4A1 | c.3876+59T>C (n.3876+59T>C) c.32+59T>C c.3684+59T>C (n.3684+59T>C) | gnomAD v4 |
13 | g.110169571A>G | CA2575454095 | COL4A1 | c.3876+58T>C (n.3876+58T>C) c.32+58T>C c.3684+58T>C (n.3684+58T>C) | gnomAD v4 |
13 | g.110169572T>C | CA2623672727 | COL4A1 | c.3876+57A>G (n.3876+57A>G) c.32+57A>G c.3684+57A>G (n.3684+57A>G) | gnomAD v4 |
13 | g.110169573A>G | CA2575454096 | COL4A1 | c.3876+56T>C (n.3876+56T>C) c.32+56T>C c.3684+56T>C (n.3684+56T>C) | gnomAD v4 |
13 | g.110169574C>A | CA256250716 | COL4A1 | c.3876+55G>T (n.3876+55G>T) c.32+55G>T c.3684+55G>T (n.3684+55G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169574C= | CA2118732652 | COL4A1 | c.3876+55G= (n.3876+55G=) c.32+55G= c.3684+55G= (n.3684+55G=) | |
13 | g.110169574C>T | CA256250714 | COL4A1 | c.3876+55G>A (n.3876+55G>A) c.32+55G>A c.3684+55G>A (n.3684+55G>A) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169575T>C | CA2575454097 | COL4A1 | c.3876+54A>G (n.3876+54A>G) c.32+54A>G c.3684+54A>G (n.3684+54A>G) | gnomAD v4 |
13 | g.110169577C= | CA2118732655 | COL4A1 | c.3876+52G= (n.3876+52G=) c.32+52G= c.3684+52G= (n.3684+52G=) | |
13 | g.110169577C>G | CA695031785 | COL4A1 | c.3876+52G>C (n.3876+52G>C) c.32+52G>C c.3684+52G>C (n.3684+52G>C) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169578T>C | CA960159749 | COL4A1 | c.3876+51A>G (n.3876+51A>G) c.32+51A>G c.3684+51A>G (n.3684+51A>G) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169578T= | CA2118732656 | COL4A1 | c.3876+51A= (n.3876+51A=) c.32+51A= c.3684+51A= (n.3684+51A=) | |
13 | g.110169580G>A | CA7047117 | COL4A1 | c.3876+49C>T (n.3876+49C>T) c.32+49C>T c.3684+49C>T (n.3684+49C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110169580G= | CA2118732658 | COL4A1 | c.3876+49C= (n.3876+49C=) c.32+49C= c.3684+49C= (n.3684+49C=) | |
13 | g.110169580G>T | CA2623672728 | COL4A1 | c.3876+49C>A (n.3876+49C>A) c.32+49C>A c.3684+49C>A (n.3684+49C>A) | gnomAD v4 |
13 | g.110169581C= | CA2118732661 | COL4A1 | c.3876+48G= (n.3876+48G=) c.32+48G= c.3684+48G= (n.3684+48G=) | |
13 | g.110169581C>T | CA7047118 | COL4A1 | c.3876+48G>A (n.3876+48G>A) c.32+48G>A c.3684+48G>A (n.3684+48G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110169583A>G | CA2623672729 | COL4A1 | c.3876+46T>C (n.3876+46T>C) c.32+46T>C c.3684+46T>C (n.3684+46T>C) | gnomAD v4 |
13 | g.110169584G>A | CA256250748 | COL4A1 | c.3876+45C>T (n.3876+45C>T) c.32+45C>T c.3684+45C>T (n.3684+45C>T) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169584G= | CA2118732663 | COL4A1 | c.3876+45C= (n.3876+45C=) c.32+45C= c.3684+45C= (n.3684+45C=) | |
13 | g.110169584G>T | CA256250753 | COL4A1 | c.3876+45C>A (n.3876+45C>A) c.32+45C>A c.3684+45C>A (n.3684+45C>A) | dbSNP gnomAD v4 |
13 | g.110169586A= | CA2118732666 | COL4A1 | c.3876+43T= (n.3876+43T=) c.32+43T= c.3684+43T= (n.3684+43T=) | |
13 | g.110169586A>G | CA7047119 | COL4A1 | c.3876+43T>C (n.3876+43T>C) c.32+43T>C c.3684+43T>C (n.3684+43T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169588A>G | CA2623672730 | COL4A1 | c.3876+41T>C (n.3876+41T>C) c.32+41T>C c.3684+41T>C (n.3684+41T>C) | gnomAD v4 |
13 | g.110169590A= | CA2118732668 | COL4A1 | c.3876+39T= (n.3876+39T=) c.32+39T= c.3684+39T= (n.3684+39T=) | |
13 | g.110169590A>G | CA612622576 | COL4A1 | c.3876+39T>C (n.3876+39T>C) c.32+39T>C c.3684+39T>C (n.3684+39T>C) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110169593C>T | CA2623672731 | COL4A1 | c.3876+36G>A (n.3876+36G>A) c.32+36G>A c.3684+36G>A (n.3684+36G>A) | gnomAD v4 |
13 | g.110169594C>A | CA612622577 | COL4A1 | c.3876+35G>T (n.3876+35G>T) c.32+35G>T c.3684+35G>T (n.3684+35G>T) | dbSNP gnomAD v2 |
13 | g.110169594C= | CA2118732671 | COL4A1 | c.3876+35G= (n.3876+35G=) c.32+35G= c.3684+35G= (n.3684+35G=) | |
13 | g.110169594C>T | CA2118732672 | COL4A1 | c.3876+35G>A (n.3876+35G>A) c.32+35G>A c.3684+35G>A (n.3684+35G>A) | dbSNP |
13 | g.110169595T>C | CA2623672732 | COL4A1 | c.3876+34A>G (n.3876+34A>G) c.32+34A>G c.3684+34A>G (n.3684+34A>G) | gnomAD v4 |
13 | g.110169598A= | CA2118732674 | COL4A1 | c.3876+31T= (n.3876+31T=) c.32+31T= c.3684+31T= (n.3684+31T=) | |
13 | g.110169598A>G | CA612622578 | COL4A1 | c.3876+31T>C (n.3876+31T>C) c.32+31T>C c.3684+31T>C (n.3684+31T>C) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110169600A>G | CA2623672733 | COL4A1 | c.3876+29T>C (n.3876+29T>C) c.32+29T>C c.3684+29T>C (n.3684+29T>C) | gnomAD v4 |
13 | g.110169602A= | CA2118732677 | COL4A1 | c.3876+27T= (n.3876+27T=) c.32+27T= c.3684+27T= (n.3684+27T=) | |
13 | g.110169602A>G | CA484788693 | COL4A1 | c.3876+27T>C (n.3876+27T>C) c.32+27T>C c.3684+27T>C (n.3684+27T>C) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110169602A>T | CA2623672734 | COL4A1 | c.3876+27T>A (n.3876+27T>A) c.32+27T>A c.3684+27T>A (n.3684+27T>A) | gnomAD v4 |
13 | g.110169603T>G | CA7047120 | COL4A1 | c.3876+26A>C (n.3876+26A>C) c.32+26A>C c.3684+26A>C (n.3684+26A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110169603T= | CA2118732679 | COL4A1 | c.3876+26A= (n.3876+26A=) c.32+26A= c.3684+26A= (n.3684+26A=) | |
13 | g.110169604A>T | CA2623672736 | COL4A1 | c.3876+25T>A (n.3876+25T>A) c.32+25T>A c.3684+25T>A (n.3684+25T>A) | gnomAD v4 |
13 | g.110169608dup | CA2623672735 | COL4A1 | c.3876+25dup (n.3876+25dup) c.32+25dup c.3684+25dup (n.3684+25dup) | gnomAD v4 |
13 | g.110169605A= | CA2118732680 | COL4A1 | c.3876+24T= (n.3876+24T=) c.32+24T= c.3684+24T= (n.3684+24T=) | |
13 | g.110169605A>T | CA960159752 | COL4A1 | c.3876+24T>A (n.3876+24T>A) c.32+24T>A c.3684+24T>A (n.3684+24T>A) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169607A= | CA2118732682 | COL4A1 | c.3876+22T= (n.3876+22T=) c.32+22T= c.3684+22T= (n.3684+22T=) | |
13 | g.110169607A>G | CA7047121 | COL4A1 | c.3876+22T>C (n.3876+22T>C) c.32+22T>C c.3684+22T>C (n.3684+22T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169608A= | CA2118732684 | COL4A1 | c.3876+21T= (n.3876+21T=) c.32+21T= c.3684+21T= (n.3684+21T=) | |
13 | g.110169608A>G | CA2118732685 | COL4A1 | c.3876+21T>C (n.3876+21T>C) c.32+21T>C c.3684+21T>C (n.3684+21T>C) | dbSNP gnomAD v4 |
13 | g.110169608A>T | CA7047122 | COL4A1 | c.3876+21T>A (n.3876+21T>A) c.32+21T>A c.3684+21T>A (n.3684+21T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169610C>G | CA2800580987 | COL4A1 | c.3876+19G>C (n.3876+19G>C) c.32+19G>C c.3684+19G>C (n.3684+19G>C) | |
13 | g.110169612_110169617delinsACAAAT | CA2118732687 | COL4A1 | c.3876+12_3876+17delinsATTTGT (n.3876+12_3876+17delinsATTTGT) c.32+12_32+17delinsATTTGT c.3684+12_3684+17delinsATTTGT (n.3684+12_3684+17delinsATTTGT) | |
13 | g.110169613C>A | CA2800580988 | COL4A1 | c.3876+16G>T (n.3876+16G>T) c.32+16G>T c.3684+16G>T (n.3684+16G>T) | |
13 | g.110169613C= | CA2118732690 | COL4A1 | c.3876+16G= (n.3876+16G=) c.32+16G= c.3684+16G= (n.3684+16G=) | |
13 | g.110169613C>G | CA7047124 | COL4A1 | c.3876+16G>C (n.3876+16G>C) c.32+16G>C c.3684+16G>C (n.3684+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169613_110169614delinsCA | CA2118732692 | COL4A1 | c.3876+15_3876+16delinsTG (n.3876+15_3876+16delinsTG) c.32+15_32+16delinsTG c.3684+15_3684+16delinsTG (n.3684+15_3684+16delinsTG) | |
13 | g.110169616_110169620del | CA7047123 | COL4A1 | c.3876+12_3876+16del (n.3876+12_3876+16del) c.32+12_32+16del c.3684+12_3684+16del (n.3684+12_3684+16del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169614A= | CA2118732694 | COL4A1 | c.3876+15T= (n.3876+15T=) c.32+15T= c.3684+15T= (n.3684+15T=) | |
13 | g.110169614A>T | CA612622579 | COL4A1 | c.3876+15T>A (n.3876+15T>A) c.32+15T>A c.3684+15T>A (n.3684+15T>A) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110169616del | CA7047125 | COL4A1 | c.3876+15del (n.3876+15del) c.32+15del c.3684+15del (n.3684+15del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110169615A= | CA2118732695 | COL4A1 | c.3876+14T= (n.3876+14T=) c.32+14T= c.3684+14T= (n.3684+14T=) | |
13 | g.110169615A>G | CA2118732696 | COL4A1 | c.3876+14T>C (n.3876+14T>C) c.32+14T>C c.3684+14T>C (n.3684+14T>C) | dbSNP |
13 | g.110169615A>T | CA2623672737 | COL4A1 | c.3876+14T>A (n.3876+14T>A) c.32+14T>A c.3684+14T>A (n.3684+14T>A) | gnomAD v4 |
13 | g.110169616A>G | CA2623672738 | COL4A1 | c.3876+13T>C (n.3876+13T>C) c.32+13T>C c.3684+13T>C (n.3684+13T>C) | gnomAD v4 |
13 | g.110169617T>A | CA2118732699 | COL4A1 | c.3876+12A>T (n.3876+12A>T) c.32+12A>T c.3684+12A>T (n.3684+12A>T) | dbSNP |
13 | g.110169617T= | CA2118732700 | COL4A1 | c.3876+12A= (n.3876+12A=) c.32+12A= c.3684+12A= (n.3684+12A=) | |
13 | g.110169617_110169618delinsTC | CA2118732698 | COL4A1 | c.3876+11_3876+12delinsGA (n.3876+11_3876+12delinsGA) c.32+11_32+12delinsGA c.3684+11_3684+12delinsGA (n.3684+11_3684+12delinsGA) | |
13 | g.110169618del | CA612622580 | COL4A1 | c.3876+11del (n.3876+11del) c.32+11del c.3684+11del (n.3684+11del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169618C>G | CA2623672739 | COL4A1 | c.3876+11G>C (n.3876+11G>C) c.32+11G>C c.3684+11G>C (n.3684+11G>C) | gnomAD v4 |
13 | g.110169620A= | CA2118732702 | COL4A1 | c.3876+9T= (n.3876+9T=) c.32+9T= c.3684+9T= (n.3684+9T=) | |
13 | g.110169620A>C | CA612622581 | COL4A1 | c.3876+9T>G (n.3876+9T>G) c.32+9T>G c.3684+9T>G (n.3684+9T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169620A>G | CA7047126 | COL4A1 | c.3876+9T>C (n.3876+9T>C) c.32+9T>C c.3684+9T>C (n.3684+9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169621T>C | CA2623672740 | COL4A1 | c.3876+8A>G (n.3876+8A>G) c.32+8A>G c.3684+8A>G (n.3684+8A>G) | gnomAD v4 |
13 | g.110169622A= | CA2118732705 | COL4A1 | c.3876+7T= (n.3876+7T=) c.32+7T= c.3684+7T= (n.3684+7T=) | |
13 | g.110169622A>G | CA695031829 | COL4A1 | c.3876+7T>C (n.3876+7T>C) c.32+7T>C c.3684+7T>C (n.3684+7T>C) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169624C>G | CA2623672741 | COL4A1 | c.3876+5G>C (n.3876+5G>C) c.32+5G>C c.3684+5G>C (n.3684+5G>C) | gnomAD v4 |
13 | g.110169627A>C | CA388661671 | COL4A1 | c.3876+2T>G (n.3876+2T>G) c.32+2T>G c.3684+2T>G (n.3684+2T>G) | |
13 | g.110169627A>G | CA388661672 | COL4A1 | c.3876+2T>C (n.3876+2T>C) c.32+2T>C c.3684+2T>C (n.3684+2T>C) | |
13 | g.110169627A>T | CA388661673 | COL4A1 | c.3876+2T>A (n.3876+2T>A) c.32+2T>A c.3684+2T>A (n.3684+2T>A) | |
13 | g.110169628C>A | CA388661674 | COL4A1 | c.3876+1G>T (n.3876+1G>T) c.32+1G>T c.3684+1G>T (n.3684+1G>T) | |
13 | g.110169628C>G | CA388661675 | COL4A1 | c.3876+1G>C (n.3876+1G>C) c.32+1G>C c.3684+1G>C (n.3684+1G>C) | |
13 | g.110169628C>T | CA388661676 | COL4A1 | c.3876+1G>A (n.3876+1G>A) c.32+1G>A c.3684+1G>A (n.3684+1G>A) | gnomAD v4 |
13 | g.110169629A>C | CA484788694 | COL4A1 | c.3876T>G (p.Pro1292=) c.32T>G c.3684T>G (p.Pro1228=) | |
13 | g.110169629A>G | CA484788695 | COL4A1 | c.3876T>C (p.Pro1292=) c.32T>C c.3684T>C (p.Pro1228=) | |
13 | g.110169629A>T | CA484788696 | COL4A1 | c.3876T>A (p.Pro1292=) c.32T>A c.3684T>A (p.Pro1228=) | |
13 | g.110169630G>A | CA388661679 | COL4A1 | c.3875C>T (p.Pro1292Leu) c.31C>T c.3683C>T (p.Pro1228Leu) | |
13 | g.110169630G>C | CA388661678 | COL4A1 | c.3875C>G (p.Pro1292Arg) c.31C>G c.3683C>G (p.Pro1228Arg) | |
13 | g.110169630G>T | CA388661677 | COL4A1 | c.3875C>A (p.Pro1292His) c.31C>A c.3683C>A (p.Pro1228His) | |
13 | g.110169631G>A | CA388661680 | COL4A1 | c.3874C>T (p.Pro1292Ser) c.30C>T c.3682C>T (p.Pro1228Ser) | |
13 | g.110169631G>C | CA388661681 | COL4A1 | c.3874C>G (p.Pro1292Ala) c.30C>G c.3682C>G (p.Pro1228Ala) | |
13 | g.110169631G= | CA2118732709 | COL4A1 | c.3874C= (p.Pro1292=) c.30C= c.3682C= (p.Pro1228=) | |
13 | g.110169631G>T | CA7047127 | COL4A1 | c.3874C>A (p.Pro1292Thr) c.30C>A c.3682C>A (p.Pro1228Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169632C>A | CA388661682 | COL4A1 | c.3873G>T (p.Met1291Ile) c.29G>T c.3681G>T (p.Met1227Ile) | |
13 | g.110169632C>G | CA388661683 | COL4A1 | c.3873G>C (p.Met1291Ile) c.29G>C c.3681G>C (p.Met1227Ile) | |
13 | g.110169632C>T | CA388661684 | COL4A1 | c.3873G>A (p.Met1291Ile) c.29G>A c.3681G>A (p.Met1227Ile) | gnomAD v4 |
13 | g.110169633A>C | CA388661685 | COL4A1 | c.3872T>G (p.Met1291Arg) c.28T>G c.3680T>G (p.Met1227Arg) | |
13 | g.110169633A>G | CA388661686 | COL4A1 | c.3872T>C (p.Met1291Thr) c.28T>C c.3680T>C (p.Met1227Thr) | gnomAD v4 |
13 | g.110169633A>T | CA388661687 | COL4A1 | c.3872T>A (p.Met1291Lys) c.28T>A c.3680T>A (p.Met1227Lys) | |
13 | g.110169634T>A | CA388661688 | COL4A1 | c.3871A>T (p.Met1291Leu) c.27A>T c.3679A>T (p.Met1227Leu) | |
13 | g.110169634T>C | CA7047128 | COL4A1 | c.3871A>G (p.Met1291Val) c.27A>G c.3679A>G (p.Met1227Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169634T>G | CA388661689 | COL4A1 | c.3871A>C (p.Met1291Leu) c.27A>C c.3679A>C (p.Met1227Leu) | |
13 | g.110169634T= | CA2118732711 | COL4A1 | c.3871A= (p.Met1291=) c.27A= c.3679A= (p.Met1227=) | |
13 | g.110169635G>A | CA484788697 | COL4A1 | c.3870C>T (p.Gly1290=) c.26C>T c.3678C>T (p.Gly1226=) | |
13 | g.110169635G>C | CA484788698 | COL4A1 | c.3870C>G (p.Gly1290=) c.26C>G c.3678C>G (p.Gly1226=) | |
13 | g.110169635G>T | CA484788699 | COL4A1 | c.3870C>A (p.Gly1290=) c.26C>A c.3678C>A (p.Gly1226=) | ClinVar |
13 | g.110169636C>A | CA388661692 | COL4A1 | c.3869G>T (p.Gly1290Val) c.25G>T c.3677G>T (p.Gly1226Val) | |
13 | g.110169636C>G | CA388661691 | COL4A1 | c.3869G>C (p.Gly1290Ala) c.25G>C c.3677G>C (p.Gly1226Ala) | |
13 | g.110169636C>T | CA388661690 | COL4A1 | c.3869G>A (p.Gly1290Asp) c.25G>A c.3677G>A (p.Gly1226Asp) | |
13 | g.110169637C>A | CA388661693 | COL4A1 | c.3868G>T (p.Gly1290Cys) c.24G>T c.3676G>T (p.Gly1226Cys) | |
13 | g.110169637C>G | CA388661695 | COL4A1 | c.3868G>C (p.Gly1290Arg) c.24G>C c.3676G>C (p.Gly1226Arg) | |
13 | g.110169637C>T | CA388661694 | COL4A1 | c.3868G>A (p.Gly1290Ser) c.24G>A c.3676G>A (p.Gly1226Ser) | gnomAD v4 COSMIC COSMIC |
13 | g.110169638C>A | CA388661696 | COL4A1 | c.3867G>T (p.Gln1289His) c.23G>T c.3675G>T (p.Gln1225His) | |
13 | g.110169638C>G | CA388661697 | COL4A1 | c.3867G>C (p.Gln1289His) c.23G>C c.3675G>C (p.Gln1225His) | gnomAD v4 |
13 | g.110169638C>T | CA484788700 | COL4A1 | c.3867G>A (p.Gln1289=) c.23G>A c.3675G>A (p.Gln1225=) | |
13 | g.110169639T>A | CA388661698 | COL4A1 | c.3866A>T (p.Gln1289Leu) c.22A>T c.3674A>T (p.Gln1225Leu) | |
13 | g.110169639T>C | CA388661699 | COL4A1 | c.3866A>G (p.Gln1289Arg) c.22A>G c.3674A>G (p.Gln1225Arg) | dbSNP |
13 | g.110169639T>G | CA388661700 | COL4A1 | c.3866A>C (p.Gln1289Pro) c.22A>C c.3674A>C (p.Gln1225Pro) | |
13 | g.110169639T= | CA2118732718 | COL4A1 | c.3866A= (p.Gln1289=) c.22A= c.3674A= (p.Gln1225=) | |
13 | g.110169640G>A | CA388661701 | COL4A1 | c.3865C>T (p.Gln1289Ter) c.21C>T c.3673C>T (p.Gln1225Ter) | |
13 | g.110169640G>C | CA388661702 | COL4A1 | c.3865C>G (p.Gln1289Glu) c.21C>G c.3673C>G (p.Gln1225Glu) | |
13 | g.110169640G>T | CA388661703 | COL4A1 | c.3865C>A (p.Gln1289Lys) c.21C>A c.3673C>A (p.Gln1225Lys) | |
13 | g.110169641G>A | CA484788701 | COL4A1 | c.3864C>T (p.Phe1288=) c.20C>T c.3672C>T (p.Phe1224=) | |
13 | g.110169641G>C | CA388661704 | COL4A1 | c.3864C>G (p.Phe1288Leu) c.20C>G c.3672C>G (p.Phe1224Leu) | |
13 | g.110169641G>T | CA388661705 | COL4A1 | c.3864C>A (p.Phe1288Leu) c.20C>A c.3672C>A (p.Phe1224Leu) | |
13 | g.110169642A>C | CA388661708 | COL4A1 | c.3863T>G (p.Phe1288Cys) c.19T>G c.3671T>G (p.Phe1224Cys) | |
13 | g.110169642A>G | CA388661707 | COL4A1 | c.3863T>C (p.Phe1288Ser) c.19T>C c.3671T>C (p.Phe1224Ser) | |
13 | g.110169642A>T | CA388661706 | COL4A1 | c.3863T>A (p.Phe1288Tyr) c.19T>A c.3671T>A (p.Phe1224Tyr) | |
13 | g.110169643A>C | CA388661709 | COL4A1 | c.3862T>G (p.Phe1288Val) c.18T>G c.3670T>G (p.Phe1224Val) | |
13 | g.110169643A>G | CA388661710 | COL4A1 | c.3862T>C (p.Phe1288Leu) c.18T>C c.3670T>C (p.Phe1224Leu) | |
13 | g.110169643A>T | CA388661711 | COL4A1 | c.3862T>A (p.Phe1288Ile) c.18T>A c.3670T>A (p.Phe1224Ile) | |
13 | g.110169644T>A | CA484788702 | COL4A1 | c.3861A>T (p.Gly1287=) c.17A>T c.3669A>T (p.Gly1223=) | |
13 | g.110169644T>C | CA484788704 | COL4A1 | c.3861A>G (p.Gly1287=) c.17A>G c.3669A>G (p.Gly1223=) | ClinVar dbSNP |
13 | g.110169644T>G | CA484788703 | COL4A1 | c.3861A>C (p.Gly1287=) c.17A>C c.3669A>C (p.Gly1223=) | |
13 | g.110169645C>A | CA388661712 | COL4A1 | c.3860G>T (p.Gly1287Val) c.16G>T c.3668G>T (p.Gly1223Val) | COSMIC COSMIC |
13 | g.110169645C>G | CA388661713 | COL4A1 | c.3860G>C (p.Gly1287Ala) c.16G>C c.3668G>C (p.Gly1223Ala) | gnomAD v4 |
13 | g.110169645C>T | CA388661714 | COL4A1 | c.3860G>A (p.Gly1287Glu) c.16G>A c.3668G>A (p.Gly1223Glu) | |
13 | g.110169646C>A | CA388661715 | COL4A1 | c.3859G>T (p.Gly1287Ter) c.15G>T c.3667G>T (p.Gly1223Ter) | |
13 | g.110169646C>G | CA388661716 | COL4A1 | c.3859G>C (p.Gly1287Arg) c.15G>C c.3667G>C (p.Gly1223Arg) | |
13 | g.110169646C>T | CA388661717 | COL4A1 | c.3859G>A (p.Gly1287Arg) c.15G>A c.3667G>A (p.Gly1223Arg) | |
13 | g.110169647A>C | CA484788705 | COL4A1 | c.3858T>G (p.Pro1286=) c.14T>G c.3666T>G (p.Pro1222=) | |
13 | g.110169647A>G | CA484788706 | COL4A1 | c.3858T>C (p.Pro1286=) c.14T>C c.3666T>C (p.Pro1222=) | |
13 | g.110169647A>T | CA484788707 | COL4A1 | c.3858T>A (p.Pro1286=) c.14T>A c.3666T>A (p.Pro1222=) | |
13 | g.110169648G>A | CA388661718 | COL4A1 | c.3857C>T (p.Pro1286Leu) c.13C>T c.3665C>T (p.Pro1222Leu) | |
13 | g.110169648G>C | CA388661719 | COL4A1 | c.3857C>G (p.Pro1286Arg) c.13C>G c.3665C>G (p.Pro1222Arg) | gnomAD v4 |
13 | g.110169648G= | CA2118732722 | COL4A1 | c.3857C= (p.Pro1286=) c.13C= c.3665C= (p.Pro1222=) | |
13 | g.110169648G>T | CA16619610 | COL4A1 | c.3857C>A (p.Pro1286His) c.13C>A c.3665C>A (p.Pro1222His) | ClinVar dbSNP gnomAD v4 |
13 | g.110169649G>A | CA388661721 | COL4A1 | c.3856C>T (p.Pro1286Ser) c.12C>T c.3664C>T (p.Pro1222Ser) | dbSNP gnomAD v4 |
13 | g.110169649G>C | CA388661722 | COL4A1 | c.3856C>G (p.Pro1286Ala) c.12C>G c.3664C>G (p.Pro1222Ala) | |
13 | g.110169649G= | CA2118732727 | COL4A1 | c.3856C= (p.Pro1286=) c.12C= c.3664C= (p.Pro1222=) | |
13 | g.110169649G>T | CA388661720 | COL4A1 | c.3856C>A (p.Pro1286Thr) c.12C>A c.3664C>A (p.Pro1222Thr) | |
13 | g.110169650G>A | CA484788708 | COL4A1 | c.3855C>T (p.Asp1285=) c.11C>T c.3663C>T (p.Asp1221=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169650G>C | CA388661723 | COL4A1 | c.3855C>G (p.Asp1285Glu) c.11C>G c.3663C>G (p.Asp1221Glu) | |
13 | g.110169650G= | CA2118732730 | COL4A1 | c.3855C= (p.Asp1285=) c.11C= c.3663C= (p.Asp1221=) | |
13 | g.110169650G>T | CA388661724 | COL4A1 | c.3855C>A (p.Asp1285Glu) c.11C>A c.3663C>A (p.Asp1221Glu) | |
13 | g.110169651T>A | CA388661725 | COL4A1 | c.3854A>T (p.Asp1285Val) c.10A>T c.3662A>T (p.Asp1221Val) | |
13 | g.110169651T>C | CA388661726 | COL4A1 | c.3854A>G (p.Asp1285Gly) c.10A>G c.3662A>G (p.Asp1221Gly) | |
13 | g.110169651T>G | CA388661727 | COL4A1 | c.3854A>C (p.Asp1285Ala) c.10A>C c.3662A>C (p.Asp1221Ala) | |
13 | g.110169652C>A | CA388661728 | COL4A1 | c.3853G>T (p.Asp1285Tyr) c.9G>T c.3661G>T (p.Asp1221Tyr) | |
13 | g.110169652C>G | CA388661729 | COL4A1 | c.3853G>C (p.Asp1285His) c.9G>C c.3661G>C (p.Asp1221His) | |
13 | g.110169652C>T | CA388661730 | COL4A1 | c.3853G>A (p.Asp1285Asn) c.9G>A c.3661G>A (p.Asp1221Asn) | COSMIC COSMIC |
13 | g.110169653T>A | CA484788709 | COL4A1 | c.3852A>T (p.Gly1284=) c.8A>T c.3660A>T (p.Gly1220=) | |
13 | g.110169653T>C | CA484788710 | COL4A1 | c.3852A>G (p.Gly1284=) c.8A>G c.3660A>G (p.Gly1220=) | |
13 | g.110169653T>G | CA484788711 | COL4A1 | c.3852A>C (p.Gly1284=) c.8A>C c.3660A>C (p.Gly1220=) | |
13 | g.110169654C>A | CA388661731 | COL4A1 | c.3851G>T (p.Gly1284Val) c.7G>T c.3659G>T (p.Gly1220Val) | |
13 | g.110169654C>G | CA388661732 | COL4A1 | c.3851G>C (p.Gly1284Ala) c.7G>C c.3659G>C (p.Gly1220Ala) | |
13 | g.110169654C>T | CA388661733 | COL4A1 | c.3851G>A (p.Gly1284Glu) c.7G>A c.3659G>A (p.Gly1220Glu) | ClinVar COSMIC COSMIC |
13 | g.110169655C>A | CA388661734 | COL4A1 | c.3850G>T (p.Gly1284Ter) c.6G>T c.3658G>T (p.Gly1220Ter) | |
13 | g.110169655C>G | CA388661735 | COL4A1 | c.3850G>C (p.Gly1284Arg) c.6G>C c.3658G>C (p.Gly1220Arg) | |
13 | g.110169655C>T | CA388661736 | COL4A1 | c.3850G>A (p.Gly1284Arg) c.6G>A c.3658G>A (p.Gly1220Arg) | ClinVar dbSNP |
13 | g.110169656C>A | CA388661737 | COL4A1 | c.3849G>T (p.Lys1283Asn) c.5G>T c.3657G>T (p.Lys1219Asn) | |
13 | g.110169656C>G | CA388661738 | COL4A1 | c.3849G>C (p.Lys1283Asn) c.5G>C c.3657G>C (p.Lys1219Asn) | |
13 | g.110169656C>T | CA484788712 | COL4A1 | c.3849G>A (p.Lys1283=) c.5G>A c.3657G>A (p.Lys1219=) | |
13 | g.110169657T>A | CA388661739 | COL4A1 | c.3848A>T (p.Lys1283Met) c.4A>T c.3656A>T (p.Lys1219Met) | |
13 | g.110169657T>C | CA256250801 | COL4A1 | c.3848A>G (p.Lys1283Arg) c.4A>G c.3656A>G (p.Lys1219Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169657T>G | CA388661740 | COL4A1 | c.3848A>C (p.Lys1283Thr) c.4A>C c.3656A>C (p.Lys1219Thr) | |
13 | g.110169657T= | CA2118732731 | COL4A1 | c.3848A= (p.Lys1283=) c.4A= c.3656A= (p.Lys1219=) | |
13 | g.110169658T>A | CA388661741 | COL4A1 | c.3847A>T (p.Lys1283Ter) c.3A>T c.3655A>T (p.Lys1219Ter) | |
13 | g.110169658T>C | CA388661742 | COL4A1 | c.3847A>G (p.Lys1283Glu) c.3A>G c.3655A>G (p.Lys1219Glu) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110169658T>G | CA388661743 | COL4A1 | c.3847A>C (p.Lys1283Gln) c.3A>C c.3655A>C (p.Lys1219Gln) | |
13 | g.110169658T= | CA2118732735 | COL4A1 | c.3847A= (p.Lys1283=) c.3A= c.3655A= (p.Lys1219=) | |
13 | g.110169659G>A | CA484788713 | COL4A1 | c.3846C>T (p.Pro1282=) c.2C>T c.3654C>T (p.Pro1218=) | gnomAD v4 |
13 | g.110169659G>C | CA484788714 | COL4A1 | c.3846C>G (p.Pro1282=) c.2C>G c.3654C>G (p.Pro1218=) | |
13 | g.110169659G>T | CA484788715 | COL4A1 | c.3846C>A (p.Pro1282=) c.2C>A c.3654C>A (p.Pro1218=) | |
13 | g.110169660G>A | CA388661744 | COL4A1 | c.3845C>T (p.Pro1282Leu) c.1C>T c.3653C>T (p.Pro1218Leu) | dbSNP |
13 | g.110169660G>C | CA388661745 | COL4A1 | c.3845C>G (p.Pro1282Arg) c.1C>G c.3653C>G (p.Pro1218Arg) | |
13 | g.110169660G= | CA2118732739 | COL4A1 | c.3845C= (p.Pro1282=) c.1C= c.3653C= (p.Pro1218=) | |
13 | g.110169660G>T | CA388661746 | COL4A1 | c.3845C>A (p.Pro1282His) c.1C>A c.3653C>A (p.Pro1218His) | |
13 | g.110169661G>A | CA388661747 | COL4A1 | c.3844C>T (p.Pro1282Ser) c.3652C>T (p.Pro1218Ser) | gnomAD v4 |
13 | g.110169661G>C | CA388661748 | COL4A1 | c.3844C>G (p.Pro1282Ala) c.3652C>G (p.Pro1218Ala) | |
13 | g.110169661G>T | CA388661749 | COL4A1 | c.3844C>A (p.Pro1282Thr) c.3652C>A (p.Pro1218Thr) | |
13 | g.110169662C>A | CA484788716 | COL4A1 | c.3843G>T (p.Gly1281=) c.3651G>T (p.Gly1217=) | |
13 | g.110169662C= | CA2118732741 | COL4A1 | c.3843G= (p.Gly1281=) c.3651G= (p.Gly1217=) | |
13 | g.110169662C>G | CA484788717 | COL4A1 | c.3843G>C (p.Gly1281=) c.3651G>C (p.Gly1217=) | |
13 | g.110169662C>T | CA7047129 | COL4A1 | c.3843G>A (p.Gly1281=) c.3651G>A (p.Gly1217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110169663C>A | CA388661751 | COL4A1 | c.3842G>T (p.Gly1281Val) c.3650G>T (p.Gly1217Val) | |
13 | g.110169663C>G | CA388661752 | COL4A1 | c.3842G>C (p.Gly1281Ala) c.3650G>C (p.Gly1217Ala) | |
13 | g.110169663C>T | CA388661750 | COL4A1 | c.3842G>A (p.Gly1281Glu) c.3650G>A (p.Gly1217Glu) | |
13 | g.110169664C>A | CA388661754 | COL4A1 | c.3841G>T (p.Gly1281Trp) c.3649G>T (p.Gly1217Trp) | |
13 | g.110169664C>G | CA388661753 | COL4A1 | c.3841G>C (p.Gly1281Arg) c.3649G>C (p.Gly1217Arg) | |
13 | g.110169664C>T | CA388661755 | COL4A1 | c.3841G>A (p.Gly1281Arg) c.3649G>A (p.Gly1217Arg) | |
13 | g.110169665T>A | CA484788719 | COL4A1 | c.3840A>T (p.Pro1280=) c.3648A>T (p.Pro1216=) | |
13 | g.110169665T>C | CA484788720 | COL4A1 | c.3840A>G (p.Pro1280=) c.3648A>G (p.Pro1216=) | |
13 | g.110169665T>G | CA484788718 | COL4A1 | c.3840A>C (p.Pro1280=) c.3648A>C (p.Pro1216=) | |
13 | g.110169666G>A | CA388661756 | COL4A1 | c.3839C>T (p.Pro1280Leu) c.3647C>T (p.Pro1216Leu) | |
13 | g.110169666G>C | CA388661758 | COL4A1 | c.3839C>G (p.Pro1280Arg) c.3647C>G (p.Pro1216Arg) | |
13 | g.110169666G>T | CA388661757 | COL4A1 | c.3839C>A (p.Pro1280Gln) c.3647C>A (p.Pro1216Gln) | |
13 | g.110169668dup | CA2842530594 | COL4A1 | c.3839dup (p.Gly1281ArgfsTer24) c.3647dup (p.Gly1217ArgfsTer24) | |
13 | g.110169668del | CA2740098032 | COL4A1 | c.3839del (p.Pro1280GlnfsTer?) c.3647del (p.Pro1216GlnfsTer?) | ClinVar |