Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237371810_237371813delinsTCTGCA1337623158COL6A3c.3586_3589delinsCAGA (p.Gln1196=)
c.35_38delinsCAGA
c.4204_4207delinsCAGA (p.Gln1402=)
c.2383_2386delinsCAGA (p.Gln795=)
c.2983_2986delinsCAGA (p.Gln995=)
c.3604_3607delinsCAGA (p.Gln1202=)
c.1798_1801delinsCAGA (p.Gln600=)
2g.237371811C>ACA351196531COL6A3c.3588G>T (p.Gln1196His)
c.37G>T
c.4206G>T (p.Gln1402His)
c.2385G>T (p.Gln795His)
c.2985G>T (p.Gln995His)
c.3606G>T (p.Gln1202His)
c.1800G>T (p.Gln600His)
2g.237371811C>GCA351196529COL6A3c.3588G>C (p.Gln1196His)
c.37G>C
c.4206G>C (p.Gln1402His)
c.2385G>C (p.Gln795His)
c.2985G>C (p.Gln995His)
c.3606G>C (p.Gln1202His)
c.1800G>C (p.Gln600His)
2g.237371811C>TCA431711175COL6A3c.3588G>A (p.Gln1196=)
c.37G>A
c.4206G>A (p.Gln1402=)
c.2385G>A (p.Gln795=)
c.2985G>A (p.Gln995=)
c.3606G>A (p.Gln1202=)
c.1800G>A (p.Gln600=)
2g.237371813_237371815delCA1043809489COL6A3c.3586_3588del (p.Gln1196del)
c.35_37del
c.4204_4206del (p.Gln1402del)
c.2383_2385del (p.Gln795del)
c.2983_2985del (p.Gln995del)
c.3604_3606del (p.Gln1202del)
c.1798_1800del (p.Gln600del)
 dbSNP gnomAD v4
2g.237371812T>ACA351196536COL6A3c.3587A>T (p.Gln1196Leu)
c.36A>T
c.4205A>T (p.Gln1402Leu)
c.2384A>T (p.Gln795Leu)
c.2984A>T (p.Gln995Leu)
c.3605A>T (p.Gln1202Leu)
c.1799A>T (p.Gln600Leu)
2g.237371812T>CCA67818679COL6A3c.3587A>G (p.Gln1196Arg)
c.36A>G
c.4205A>G (p.Gln1402Arg)
c.2384A>G (p.Gln795Arg)
c.2984A>G (p.Gln995Arg)
c.3605A>G (p.Gln1202Arg)
c.1799A>G (p.Gln600Arg)
 dbSNP
2g.237371812T>GCA351196535COL6A3c.3587A>C (p.Gln1196Pro)
c.36A>C
c.4205A>C (p.Gln1402Pro)
c.2384A>C (p.Gln795Pro)
c.2984A>C (p.Gln995Pro)
c.3605A>C (p.Gln1202Pro)
c.1799A>C (p.Gln600Pro)
 dbSNP
2g.237371812T=CA1337623159COL6A3c.3587A= (p.Gln1196=)
c.36A=
c.4205A= (p.Gln1402=)
c.2384A= (p.Gln795=)
c.2984A= (p.Gln995=)
c.3605A= (p.Gln1202=)
c.1799A= (p.Gln600=)
2g.237371813G>ACA351196537COL6A3c.3586C>T (p.Gln1196Ter)
c.35C>T
c.4204C>T (p.Gln1402Ter)
c.2383C>T (p.Gln795Ter)
c.2983C>T (p.Gln995Ter)
c.3604C>T (p.Gln1202Ter)
c.1798C>T (p.Gln600Ter)
2g.237371813G>CCA351196538COL6A3c.3586C>G (p.Gln1196Glu)
c.35C>G
c.4204C>G (p.Gln1402Glu)
c.2383C>G (p.Gln795Glu)
c.2983C>G (p.Gln995Glu)
c.3604C>G (p.Gln1202Glu)
c.1798C>G (p.Gln600Glu)
2g.237371813G>TCA351196539COL6A3c.3586C>A (p.Gln1196Lys)
c.35C>A
c.4204C>A (p.Gln1402Lys)
c.2383C>A (p.Gln795Lys)
c.2983C>A (p.Gln995Lys)
c.3604C>A (p.Gln1202Lys)
c.1798C>A (p.Gln600Lys)
2g.237371814C>ACA351196541COL6A3c.3585G>T (p.Glu1195Asp)
c.34G>T
c.4203G>T (p.Glu1401Asp)
c.2382G>T (p.Glu794Asp)
c.2982G>T (p.Glu994Asp)
c.3603G>T (p.Glu1201Asp)
c.1797G>T (p.Glu599Asp)
2g.237371814C=CA1337623160COL6A3c.3585G= (p.Glu1195=)
c.34G=
c.4203G= (p.Glu1401=)
c.2382G= (p.Glu794=)
c.2982G= (p.Glu994=)
c.3603G= (p.Glu1201=)
c.1797G= (p.Glu599=)
2g.237371814C>GCA351196542COL6A3c.3585G>C (p.Glu1195Asp)
c.34G>C
c.4203G>C (p.Glu1401Asp)
c.2382G>C (p.Glu794Asp)
c.2982G>C (p.Glu994Asp)
c.3603G>C (p.Glu1201Asp)
c.1797G>C (p.Glu599Asp)
2g.237371814C>TCA431711176COL6A3c.3585G>A (p.Glu1195=)
c.34G>A
c.4203G>A (p.Glu1401=)
c.2382G>A (p.Glu794=)
c.2982G>A (p.Glu994=)
c.3603G>A (p.Glu1201=)
c.1797G>A (p.Glu599=)
 dbSNP
2g.237371815T>ACA351196545COL6A3c.3584A>T (p.Glu1195Val)
c.33A>T
c.4202A>T (p.Glu1401Val)
c.2381A>T (p.Glu794Val)
c.2981A>T (p.Glu994Val)
c.3602A>T (p.Glu1201Val)
c.1796A>T (p.Glu599Val)
 gnomAD v4
2g.237371815T>CCA351196548COL6A3c.3584A>G (p.Glu1195Gly)
c.33A>G
c.4202A>G (p.Glu1401Gly)
c.2381A>G (p.Glu794Gly)
c.2981A>G (p.Glu994Gly)
c.3602A>G (p.Glu1201Gly)
c.1796A>G (p.Glu599Gly)
2g.237371815T>GCA351196550COL6A3c.3584A>C (p.Glu1195Ala)
c.33A>C
c.4202A>C (p.Glu1401Ala)
c.2381A>C (p.Glu794Ala)
c.2981A>C (p.Glu994Ala)
c.3602A>C (p.Glu1201Ala)
c.1796A>C (p.Glu599Ala)
2g.237371816C>ACA351196551COL6A3c.3583G>T (p.Glu1195Ter)
c.32G>T
c.4201G>T (p.Glu1401Ter)
c.2380G>T (p.Glu794Ter)
c.2980G>T (p.Glu994Ter)
c.3601G>T (p.Glu1201Ter)
c.1795G>T (p.Glu599Ter)
2g.237371816C>GCA351196553COL6A3c.3583G>C (p.Glu1195Gln)
c.32G>C
c.4201G>C (p.Glu1401Gln)
c.2380G>C (p.Glu794Gln)
c.2980G>C (p.Glu994Gln)
c.3601G>C (p.Glu1201Gln)
c.1795G>C (p.Glu599Gln)
2g.237371816C>TCA351196554COL6A3c.3583G>A (p.Glu1195Lys)
c.32G>A
c.4201G>A (p.Glu1401Lys)
c.2380G>A (p.Glu794Lys)
c.2980G>A (p.Glu994Lys)
c.3601G>A (p.Glu1201Lys)
c.1795G>A (p.Glu599Lys)
2g.237371817C>ACA431711179COL6A3c.3582G>T (p.Leu1194=)
c.31G>T
c.4200G>T (p.Leu1400=)
c.2379G>T (p.Leu793=)
c.2979G>T (p.Leu993=)
c.3600G>T (p.Leu1200=)
c.1794G>T (p.Leu598=)
2g.237371817C>GCA431711177COL6A3c.3582G>C (p.Leu1194=)
c.31G>C
c.4200G>C (p.Leu1400=)
c.2379G>C (p.Leu793=)
c.2979G>C (p.Leu993=)
c.3600G>C (p.Leu1200=)
c.1794G>C (p.Leu598=)
2g.237371817C>TCA431711178COL6A3c.3582G>A (p.Leu1194=)
c.31G>A
c.4200G>A (p.Leu1400=)
c.2379G>A (p.Leu793=)
c.2979G>A (p.Leu993=)
c.3600G>A (p.Leu1200=)
c.1794G>A (p.Leu598=)
2g.237371818A=CA1337623161COL6A3c.3581T= (p.Leu1194=)
c.30T=
c.4199T= (p.Leu1400=)
c.2378T= (p.Leu793=)
c.2978T= (p.Leu993=)
c.3599T= (p.Leu1200=)
c.1793T= (p.Leu598=)
2g.237371818A>CCA351196558COL6A3c.3581T>G (p.Leu1194Arg)
c.30T>G
c.4199T>G (p.Leu1400Arg)
c.2378T>G (p.Leu793Arg)
c.2978T>G (p.Leu993Arg)
c.3599T>G (p.Leu1200Arg)
c.1793T>G (p.Leu598Arg)
2g.237371818A>GCA351196556COL6A3c.3581T>C (p.Leu1194Pro)
c.30T>C
c.4199T>C (p.Leu1400Pro)
c.2378T>C (p.Leu793Pro)
c.2978T>C (p.Leu993Pro)
c.3599T>C (p.Leu1200Pro)
c.1793T>C (p.Leu598Pro)
2g.237371818A>TCA351196557COL6A3c.3581T>A (p.Leu1194Gln)
c.30T>A
c.4199T>A (p.Leu1400Gln)
c.2378T>A (p.Leu793Gln)
c.2978T>A (p.Leu993Gln)
c.3599T>A (p.Leu1200Gln)
c.1793T>A (p.Leu598Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371819G>ACA2188975COL6A3c.3580C>T (p.Leu1194=)
c.29C>T
c.4198C>T (p.Leu1400=)
c.2377C>T (p.Leu793=)
c.2977C>T (p.Leu993=)
c.3598C>T (p.Leu1200=)
c.1792C>T (p.Leu598=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371819G>CCA351196561COL6A3c.3580C>G (p.Leu1194Val)
c.29C>G
c.4198C>G (p.Leu1400Val)
c.2377C>G (p.Leu793Val)
c.2977C>G (p.Leu993Val)
c.3598C>G (p.Leu1200Val)
c.1792C>G (p.Leu598Val)
2g.237371819G=CA1337623162COL6A3c.3580C= (p.Leu1194=)
c.29C=
c.4198C= (p.Leu1400=)
c.2377C= (p.Leu793=)
c.2977C= (p.Leu993=)
c.3598C= (p.Leu1200=)
c.1792C= (p.Leu598=)
2g.237371819G>TCA351196563COL6A3c.3580C>A (p.Leu1194Met)
c.29C>A
c.4198C>A (p.Leu1400Met)
c.2377C>A (p.Leu793Met)
c.2977C>A (p.Leu993Met)
c.3598C>A (p.Leu1200Met)
c.1792C>A (p.Leu598Met)
2g.237371820G>ACA2188976COL6A3c.3579C>T (p.Ser1193=)
c.28C>T
c.4197C>T (p.Ser1399=)
c.2376C>T (p.Ser792=)
c.2976C>T (p.Ser992=)
c.3597C>T (p.Ser1199=)
c.1791C>T (p.Ser597=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371820G>CCA351196565COL6A3c.3579C>G (p.Ser1193Arg)
c.28C>G
c.4197C>G (p.Ser1399Arg)
c.2376C>G (p.Ser792Arg)
c.2976C>G (p.Ser992Arg)
c.3597C>G (p.Ser1199Arg)
c.1791C>G (p.Ser597Arg)
2g.237371820G=CA1337623163COL6A3c.3579C= (p.Ser1193=)
c.28C=
c.4197C= (p.Ser1399=)
c.2376C= (p.Ser792=)
c.2976C= (p.Ser992=)
c.3597C= (p.Ser1199=)
c.1791C= (p.Ser597=)
2g.237371820G>TCA2188977COL6A3c.3579C>A (p.Ser1193Arg)
c.28C>A
c.4197C>A (p.Ser1399Arg)
c.2376C>A (p.Ser792Arg)
c.2976C>A (p.Ser992Arg)
c.3597C>A (p.Ser1199Arg)
c.1791C>A (p.Ser597Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371821C>ACA351196569COL6A3c.3578G>T (p.Ser1193Ile)
c.27G>T
c.4196G>T (p.Ser1399Ile)
c.2375G>T (p.Ser792Ile)
c.2975G>T (p.Ser992Ile)
c.3596G>T (p.Ser1199Ile)
c.1790G>T (p.Ser597Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.237371821C=CA1337623164COL6A3c.3578G= (p.Ser1193=)
c.27G=
c.4196G= (p.Ser1399=)
c.2375G= (p.Ser792=)
c.2975G= (p.Ser992=)
c.3596G= (p.Ser1199=)
c.1790G= (p.Ser597=)
2g.237371821C>GCA351196571COL6A3c.3578G>C (p.Ser1193Thr)
c.27G>C
c.4196G>C (p.Ser1399Thr)
c.2375G>C (p.Ser792Thr)
c.2975G>C (p.Ser992Thr)
c.3596G>C (p.Ser1199Thr)
c.1790G>C (p.Ser597Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371821C>TCA351196573COL6A3c.3578G>A (p.Ser1193Asn)
c.27G>A
c.4196G>A (p.Ser1399Asn)
c.2375G>A (p.Ser792Asn)
c.2975G>A (p.Ser992Asn)
c.3596G>A (p.Ser1199Asn)
c.1790G>A (p.Ser597Asn)
 gnomAD v4
2g.237371822T>ACA351196576COL6A3c.3577A>T (p.Ser1193Cys)
c.26A>T
c.4195A>T (p.Ser1399Cys)
c.2374A>T (p.Ser792Cys)
c.2974A>T (p.Ser992Cys)
c.3595A>T (p.Ser1199Cys)
c.1789A>T (p.Ser597Cys)
2g.237371822T>CCA351196579COL6A3c.3577A>G (p.Ser1193Gly)
c.26A>G
c.4195A>G (p.Ser1399Gly)
c.2374A>G (p.Ser792Gly)
c.2974A>G (p.Ser992Gly)
c.3595A>G (p.Ser1199Gly)
c.1789A>G (p.Ser597Gly)
 gnomAD v4
2g.237371822T>GCA351196581COL6A3c.3577A>C (p.Ser1193Arg)
c.26A>C
c.4195A>C (p.Ser1399Arg)
c.2374A>C (p.Ser792Arg)
c.2974A>C (p.Ser992Arg)
c.3595A>C (p.Ser1199Arg)
c.1789A>C (p.Ser597Arg)
2g.237371822_237371823delinsTGCA1337623165COL6A3c.3576_3577delinsCA (p.Pro1192=)
c.25_26delinsCA
c.4194_4195delinsCA (p.Pro1398=)
c.2373_2374delinsCA (p.Pro791=)
c.2973_2974delinsCA (p.Pro991=)
c.3594_3595delinsCA (p.Pro1198=)
c.1788_1789delinsCA (p.Pro596=)
2g.237371823G>ACA431711183COL6A3c.3576C>T (p.Pro1192=)
c.25C>T
c.4194C>T (p.Pro1398=)
c.2373C>T (p.Pro791=)
c.2973C>T (p.Pro991=)
c.3594C>T (p.Pro1198=)
c.1788C>T (p.Pro596=)
2g.237371823G>CCA431711184COL6A3c.3576C>G (p.Pro1192=)
c.25C>G
c.4194C>G (p.Pro1398=)
c.2373C>G (p.Pro791=)
c.2973C>G (p.Pro991=)
c.3594C>G (p.Pro1198=)
c.1788C>G (p.Pro596=)
2g.237371823G>TCA431711185COL6A3c.3576C>A (p.Pro1192=)
c.25C>A
c.4194C>A (p.Pro1398=)
c.2373C>A (p.Pro791=)
c.2973C>A (p.Pro991=)
c.3594C>A (p.Pro1198=)
c.1788C>A (p.Pro596=)
2g.237371825delCA766586999COL6A3c.3576del (p.Ser1193AlafsTer7)
c.25del
c.4194del (p.Ser1399AlafsTer7)
c.2373del (p.Ser792AlafsTer7)
c.2973del (p.Ser992AlafsTer7)
c.3594del (p.Ser1199AlafsTer7)
c.1788del (p.Ser597AlafsTer7)
 dbSNP
2g.237371824G>ACA351196582COL6A3c.3575C>T (p.Pro1192Leu)
c.24C>T
c.4193C>T (p.Pro1398Leu)
c.2372C>T (p.Pro791Leu)
c.2972C>T (p.Pro991Leu)
c.3593C>T (p.Pro1198Leu)
c.1787C>T (p.Pro596Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237371824G>CCA351196586COL6A3c.3575C>G (p.Pro1192Arg)
c.24C>G
c.4193C>G (p.Pro1398Arg)
c.2372C>G (p.Pro791Arg)
c.2972C>G (p.Pro991Arg)
c.3593C>G (p.Pro1198Arg)
c.1787C>G (p.Pro596Arg)
2g.237371824G=CA1337623166COL6A3c.3575C= (p.Pro1192=)
c.24C=
c.4193C= (p.Pro1398=)
c.2372C= (p.Pro791=)
c.2972C= (p.Pro991=)
c.3593C= (p.Pro1198=)
c.1787C= (p.Pro596=)
2g.237371824G>TCA351196584COL6A3c.3575C>A (p.Pro1192His)
c.24C>A
c.4193C>A (p.Pro1398His)
c.2372C>A (p.Pro791His)
c.2972C>A (p.Pro991His)
c.3593C>A (p.Pro1198His)
c.1787C>A (p.Pro596His)
2g.237371825G>ACA351196588COL6A3c.3574C>T (p.Pro1192Ser)
c.23C>T
c.4192C>T (p.Pro1398Ser)
c.2371C>T (p.Pro791Ser)
c.2971C>T (p.Pro991Ser)
c.3592C>T (p.Pro1198Ser)
c.1786C>T (p.Pro596Ser)
 COSMIC COSMIC
2g.237371825G>CCA351196590COL6A3c.3574C>G (p.Pro1192Ala)
c.23C>G
c.4192C>G (p.Pro1398Ala)
c.2371C>G (p.Pro791Ala)
c.2971C>G (p.Pro991Ala)
c.3592C>G (p.Pro1198Ala)
c.1786C>G (p.Pro596Ala)
2g.237371825G>TCA351196593COL6A3c.3574C>A (p.Pro1192Thr)
c.23C>A
c.4192C>A (p.Pro1398Thr)
c.2371C>A (p.Pro791Thr)
c.2971C>A (p.Pro991Thr)
c.3592C>A (p.Pro1198Thr)
c.1786C>A (p.Pro596Thr)
2g.237371826C>ACA431711189COL6A3c.3573G>T (p.Leu1191=)
c.22G>T
c.4191G>T (p.Leu1397=)
c.2370G>T (p.Leu790=)
c.2970G>T (p.Leu990=)
c.3591G>T (p.Leu1197=)
c.1785G>T (p.Leu595=)
2g.237371826C>GCA431711191COL6A3c.3573G>C (p.Leu1191=)
c.22G>C
c.4191G>C (p.Leu1397=)
c.2370G>C (p.Leu790=)
c.2970G>C (p.Leu990=)
c.3591G>C (p.Leu1197=)
c.1785G>C (p.Leu595=)
 gnomAD v4
2g.237371826C>TCA431711190COL6A3c.3573G>A (p.Leu1191=)
c.22G>A
c.4191G>A (p.Leu1397=)
c.2370G>A (p.Leu790=)
c.2970G>A (p.Leu990=)
c.3591G>A (p.Leu1197=)
c.1785G>A (p.Leu595=)
 gnomAD v4
2g.237371827A=CA1337623167COL6A3c.3572T= (p.Leu1191=)
c.21T=
c.4190T= (p.Leu1397=)
c.2369T= (p.Leu790=)
c.2969T= (p.Leu990=)
c.3590T= (p.Leu1197=)
c.1784T= (p.Leu595=)
2g.237371827A>CCA351196595COL6A3c.3572T>G (p.Leu1191Arg)
c.21T>G
c.4190T>G (p.Leu1397Arg)
c.2369T>G (p.Leu790Arg)
c.2969T>G (p.Leu990Arg)
c.3590T>G (p.Leu1197Arg)
c.1784T>G (p.Leu595Arg)
 gnomAD v4
2g.237371827A>GCA2188978COL6A3c.3572T>C (p.Leu1191Pro)
c.21T>C
c.4190T>C (p.Leu1397Pro)
c.2369T>C (p.Leu790Pro)
c.2969T>C (p.Leu990Pro)
c.3590T>C (p.Leu1197Pro)
c.1784T>C (p.Leu595Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371827A>TCA351196597COL6A3c.3572T>A (p.Leu1191Gln)
c.21T>A
c.4190T>A (p.Leu1397Gln)
c.2369T>A (p.Leu790Gln)
c.2969T>A (p.Leu990Gln)
c.3590T>A (p.Leu1197Gln)
c.1784T>A (p.Leu595Gln)
2g.237371828G>ACA431711192COL6A3c.3571C>T (p.Leu1191=)
c.20C>T
c.4189C>T (p.Leu1397=)
c.2368C>T (p.Leu790=)
c.2968C>T (p.Leu990=)
c.3589C>T (p.Leu1197=)
c.1783C>T (p.Leu595=)
 gnomAD v4
2g.237371828G>CCA351196599COL6A3c.3571C>G (p.Leu1191Val)
c.20C>G
c.4189C>G (p.Leu1397Val)
c.2368C>G (p.Leu790Val)
c.2968C>G (p.Leu990Val)
c.3589C>G (p.Leu1197Val)
c.1783C>G (p.Leu595Val)
 dbSNP gnomAD v2 gnomAD v4
2g.237371828G=CA1337623168COL6A3c.3571C= (p.Leu1191=)
c.20C=
c.4189C= (p.Leu1397=)
c.2368C= (p.Leu790=)
c.2968C= (p.Leu990=)
c.3589C= (p.Leu1197=)
c.1783C= (p.Leu595=)
2g.237371828G>TCA351196601COL6A3c.3571C>A (p.Leu1191Met)
c.20C>A
c.4189C>A (p.Leu1397Met)
c.2368C>A (p.Leu790Met)
c.2968C>A (p.Leu990Met)
c.3589C>A (p.Leu1197Met)
c.1783C>A (p.Leu595Met)
2g.237371829C>ACA351196604COL6A3c.3570G>T (p.Glu1190Asp)
c.19G>T
c.4188G>T (p.Glu1396Asp)
c.2367G>T (p.Glu789Asp)
c.2967G>T (p.Glu989Asp)
c.3588G>T (p.Glu1196Asp)
c.1782G>T (p.Glu594Asp)
2g.237371829C=CA1337623169COL6A3c.3570G= (p.Glu1190=)
c.19G=
c.4188G= (p.Glu1396=)
c.2367G= (p.Glu789=)
c.2967G= (p.Glu989=)
c.3588G= (p.Glu1196=)
c.1782G= (p.Glu594=)
2g.237371829C>GCA351196606COL6A3c.3570G>C (p.Glu1190Asp)
c.19G>C
c.4188G>C (p.Glu1396Asp)
c.2367G>C (p.Glu789Asp)
c.2967G>C (p.Glu989Asp)
c.3588G>C (p.Glu1196Asp)
c.1782G>C (p.Glu594Asp)
2g.237371829C>TCA431711194COL6A3c.3570G>A (p.Glu1190=)
c.19G>A
c.4188G>A (p.Glu1396=)
c.2367G>A (p.Glu789=)
c.2967G>A (p.Glu989=)
c.3588G>A (p.Glu1196=)
c.1782G>A (p.Glu594=)
 ClinVar dbSNP
2g.237371830T>ACA351196608COL6A3c.3569A>T (p.Glu1190Val)
c.18A>T
c.4187A>T (p.Glu1396Val)
c.2366A>T (p.Glu789Val)
c.2966A>T (p.Glu989Val)
c.3587A>T (p.Glu1196Val)
c.1781A>T (p.Glu594Val)
2g.237371830T>CCA351196610COL6A3c.3569A>G (p.Glu1190Gly)
c.18A>G
c.4187A>G (p.Glu1396Gly)
c.2366A>G (p.Glu789Gly)
c.2966A>G (p.Glu989Gly)
c.3587A>G (p.Glu1196Gly)
c.1781A>G (p.Glu594Gly)
2g.237371830T>GCA351196612COL6A3c.3569A>C (p.Glu1190Ala)
c.18A>C
c.4187A>C (p.Glu1396Ala)
c.2366A>C (p.Glu789Ala)
c.2966A>C (p.Glu989Ala)
c.3587A>C (p.Glu1196Ala)
c.1781A>C (p.Glu594Ala)
2g.237371831C>ACA351196614COL6A3c.3568G>T (p.Glu1190Ter)
c.17G>T
c.4186G>T (p.Glu1396Ter)
c.2365G>T (p.Glu789Ter)
c.2965G>T (p.Glu989Ter)
c.3586G>T (p.Glu1196Ter)
c.1780G>T (p.Glu594Ter)
2g.237371831C>GCA351196618COL6A3c.3568G>C (p.Glu1190Gln)
c.17G>C
c.4186G>C (p.Glu1396Gln)
c.2365G>C (p.Glu789Gln)
c.2965G>C (p.Glu989Gln)
c.3586G>C (p.Glu1196Gln)
c.1780G>C (p.Glu594Gln)
2g.237371831C>TCA351196616COL6A3c.3568G>A (p.Glu1190Lys)
c.17G>A
c.4186G>A (p.Glu1396Lys)
c.2365G>A (p.Glu789Lys)
c.2965G>A (p.Glu989Lys)
c.3586G>A (p.Glu1196Lys)
c.1780G>A (p.Glu594Lys)
2g.237371833dupCA2577289968COL6A3c.3568dup (p.Glu1190GlyfsTer?)
c.17dup
c.4186dup (p.Glu1396GlyfsTer?)
c.2365dup (p.Glu789GlyfsTer?)
c.2965dup (p.Glu989GlyfsTer?)
c.3586dup (p.Glu1196GlyfsTer?)
c.1780dup (p.Glu594GlyfsTer?)
2g.237371832C>ACA431711195COL6A3c.3567G>T (p.Arg1189=)
c.16G>T
c.4185G>T (p.Arg1395=)
c.2364G>T (p.Arg788=)
c.2964G>T (p.Arg988=)
c.3585G>T (p.Arg1195=)
c.1779G>T (p.Arg593=)
2g.237371832C>GCA431711196COL6A3c.3567G>C (p.Arg1189=)
c.16G>C
c.4185G>C (p.Arg1395=)
c.2364G>C (p.Arg788=)
c.2964G>C (p.Arg988=)
c.3585G>C (p.Arg1195=)
c.1779G>C (p.Arg593=)
2g.237371832C>TCA431711197COL6A3c.3567G>A (p.Arg1189=)
c.16G>A
c.4185G>A (p.Arg1395=)
c.2364G>A (p.Arg788=)
c.2964G>A (p.Arg988=)
c.3585G>A (p.Arg1195=)
c.1779G>A (p.Arg593=)
2g.237371833C>ACA351196620COL6A3c.3566G>T (p.Arg1189Leu)
c.15G>T
c.4184G>T (p.Arg1395Leu)
c.2363G>T (p.Arg788Leu)
c.2963G>T (p.Arg988Leu)
c.3584G>T (p.Arg1195Leu)
c.1778G>T (p.Arg593Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371833C=CA1337623170COL6A3c.3566G= (p.Arg1189=)
c.15G=
c.4184G= (p.Arg1395=)
c.2363G= (p.Arg788=)
c.2963G= (p.Arg988=)
c.3584G= (p.Arg1195=)
c.1778G= (p.Arg593=)
2g.237371833C>GCA351196622COL6A3c.3566G>C (p.Arg1189Pro)
c.15G>C
c.4184G>C (p.Arg1395Pro)
c.2363G>C (p.Arg788Pro)
c.2963G>C (p.Arg988Pro)
c.3584G>C (p.Arg1195Pro)
c.1778G>C (p.Arg593Pro)
2g.237371833C>TCA147959COL6A3c.3566G>A (p.Arg1189Gln)
c.15G>A
c.4184G>A (p.Arg1395Gln)
c.2363G>A (p.Arg788Gln)
c.2963G>A (p.Arg988Gln)
c.3584G>A (p.Arg1195Gln)
c.1778G>A (p.Arg593Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371834G>ACA2188979COL6A3c.3565C>T (p.Arg1189Trp)
c.14C>T
c.4183C>T (p.Arg1395Trp)
c.2362C>T (p.Arg788Trp)
c.2962C>T (p.Arg988Trp)
c.3583C>T (p.Arg1195Trp)
c.1777C>T (p.Arg593Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237371834G>CCA351196626COL6A3c.3565C>G (p.Arg1189Gly)
c.14C>G
c.4183C>G (p.Arg1395Gly)
c.2362C>G (p.Arg788Gly)
c.2962C>G (p.Arg988Gly)
c.3583C>G (p.Arg1195Gly)
c.1777C>G (p.Arg593Gly)
2g.237371834G=CA1337623171COL6A3c.3565C= (p.Arg1189=)
c.14C=
c.4183C= (p.Arg1395=)
c.2362C= (p.Arg788=)
c.2962C= (p.Arg988=)
c.3583C= (p.Arg1195=)
c.1777C= (p.Arg593=)
2g.237371834G>TCA431711198COL6A3c.3565C>A (p.Arg1189=)
c.14C>A
c.4183C>A (p.Arg1395=)
c.2362C>A (p.Arg788=)
c.2962C>A (p.Arg988=)
c.3583C>A (p.Arg1195=)
c.1777C>A (p.Arg593=)
2g.237371835G>ACA431711199COL6A3c.3564C>T (p.Phe1188=)
c.13C>T
c.4182C>T (p.Phe1394=)
c.2361C>T (p.Phe787=)
c.2961C>T (p.Phe987=)
c.3582C>T (p.Phe1194=)
c.1776C>T (p.Phe592=)
2g.237371835G>CCA351196628COL6A3c.3564C>G (p.Phe1188Leu)
c.13C>G
c.4182C>G (p.Phe1394Leu)
c.2361C>G (p.Phe787Leu)
c.2961C>G (p.Phe987Leu)
c.3582C>G (p.Phe1194Leu)
c.1776C>G (p.Phe592Leu)
2g.237371835G>TCA351196630COL6A3c.3564C>A (p.Phe1188Leu)
c.13C>A
c.4182C>A (p.Phe1394Leu)
c.2361C>A (p.Phe787Leu)
c.2961C>A (p.Phe987Leu)
c.3582C>A (p.Phe1194Leu)
c.1776C>A (p.Phe592Leu)
2g.237371836A>CCA351196632COL6A3c.3563T>G (p.Phe1188Cys)
c.12T>G
c.4181T>G (p.Phe1394Cys)
c.2360T>G (p.Phe787Cys)
c.2960T>G (p.Phe987Cys)
c.3581T>G (p.Phe1194Cys)
c.1775T>G (p.Phe592Cys)
2g.237371836A>GCA351196634COL6A3c.3563T>C (p.Phe1188Ser)
c.12T>C
c.4181T>C (p.Phe1394Ser)
c.2360T>C (p.Phe787Ser)
c.2960T>C (p.Phe987Ser)
c.3581T>C (p.Phe1194Ser)
c.1775T>C (p.Phe592Ser)
2g.237371836A>TCA351196637COL6A3c.3563T>A (p.Phe1188Tyr)
c.12T>A
c.4181T>A (p.Phe1394Tyr)
c.2360T>A (p.Phe787Tyr)
c.2960T>A (p.Phe987Tyr)
c.3581T>A (p.Phe1194Tyr)
c.1775T>A (p.Phe592Tyr)
2g.237371837delCA2663798954COL6A3c.3563del (p.Phe1188SerfsTer12)
c.12del
c.4181del (p.Phe1394SerfsTer12)
c.2360del (p.Phe787SerfsTer12)
c.2960del (p.Phe987SerfsTer12)
c.3581del (p.Phe1194SerfsTer12)
c.1775del (p.Phe592SerfsTer12)
 gnomAD v4
2g.237371837A=CA1337623172COL6A3c.3562T= (p.Phe1188=)
c.11T=
c.4180T= (p.Phe1394=)
c.2359T= (p.Phe787=)
c.2959T= (p.Phe987=)
c.3580T= (p.Phe1194=)
c.1774T= (p.Phe592=)
2g.237371837A>CCA351196642COL6A3c.3562T>G (p.Phe1188Val)
c.11T>G
c.4180T>G (p.Phe1394Val)
c.2359T>G (p.Phe787Val)
c.2959T>G (p.Phe987Val)
c.3580T>G (p.Phe1194Val)
c.1774T>G (p.Phe592Val)
2g.237371837A>GCA2188980COL6A3c.3562T>C (p.Phe1188Leu)
c.11T>C
c.4180T>C (p.Phe1394Leu)
c.2359T>C (p.Phe787Leu)
c.2959T>C (p.Phe987Leu)
c.3580T>C (p.Phe1194Leu)
c.1774T>C (p.Phe592Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371837A>TCA351196640COL6A3c.3562T>A (p.Phe1188Ile)
c.11T>A
c.4180T>A (p.Phe1394Ile)
c.2359T>A (p.Phe787Ile)
c.2959T>A (p.Phe987Ile)
c.3580T>A (p.Phe1194Ile)
c.1774T>A (p.Phe592Ile)
2g.237371838G>ACA431711200COL6A3c.3561C>T (p.Thr1187=)
c.10C>T
c.4179C>T (p.Thr1393=)
c.2358C>T (p.Thr786=)
c.2958C>T (p.Thr986=)
c.3579C>T (p.Thr1193=)
c.1773C>T (p.Thr591=)
2g.237371838G>CCA431711202COL6A3c.3561C>G (p.Thr1187=)
c.10C>G
c.4179C>G (p.Thr1393=)
c.2358C>G (p.Thr786=)
c.2958C>G (p.Thr986=)
c.3579C>G (p.Thr1193=)
c.1773C>G (p.Thr591=)
2g.237371838G>TCA431711201COL6A3c.3561C>A (p.Thr1187=)
c.10C>A
c.4179C>A (p.Thr1393=)
c.2358C>A (p.Thr786=)
c.2958C>A (p.Thr986=)
c.3579C>A (p.Thr1193=)
c.1773C>A (p.Thr591=)
 gnomAD v4
2g.237371839G>ACA351196649COL6A3c.3560C>T (p.Thr1187Ile)
c.9C>T
c.4178C>T (p.Thr1393Ile)
c.2357C>T (p.Thr786Ile)
c.2957C>T (p.Thr986Ile)
c.3578C>T (p.Thr1193Ile)
c.1772C>T (p.Thr591Ile)
2g.237371839G>CCA351196646COL6A3c.3560C>G (p.Thr1187Ser)
c.9C>G
c.4178C>G (p.Thr1393Ser)
c.2357C>G (p.Thr786Ser)
c.2957C>G (p.Thr986Ser)
c.3578C>G (p.Thr1193Ser)
c.1772C>G (p.Thr591Ser)
 ClinVar dbSNP
2g.237371839G=CA1337623173COL6A3c.3560C= (p.Thr1187=)
c.9C=
c.4178C= (p.Thr1393=)
c.2357C= (p.Thr786=)
c.2957C= (p.Thr986=)
c.3578C= (p.Thr1193=)
c.1772C= (p.Thr591=)
2g.237371839G>TCA351196647COL6A3c.3560C>A (p.Thr1187Asn)
c.9C>A
c.4178C>A (p.Thr1393Asn)
c.2357C>A (p.Thr786Asn)
c.2957C>A (p.Thr986Asn)
c.3578C>A (p.Thr1193Asn)
c.1772C>A (p.Thr591Asn)
2g.237371840T>ACA351196651COL6A3c.3559A>T (p.Thr1187Ser)
c.8A>T
c.4177A>T (p.Thr1393Ser)
c.2356A>T (p.Thr786Ser)
c.2956A>T (p.Thr986Ser)
c.3577A>T (p.Thr1193Ser)
c.1771A>T (p.Thr591Ser)
2g.237371840T>CCA351196652COL6A3c.3559A>G (p.Thr1187Ala)
c.8A>G
c.4177A>G (p.Thr1393Ala)
c.2356A>G (p.Thr786Ala)
c.2956A>G (p.Thr986Ala)
c.3577A>G (p.Thr1193Ala)
c.1771A>G (p.Thr591Ala)
2g.237371840T>GCA351196655COL6A3c.3559A>C (p.Thr1187Pro)
c.8A>C
c.4177A>C (p.Thr1393Pro)
c.2356A>C (p.Thr786Pro)
c.2956A>C (p.Thr986Pro)
c.3577A>C (p.Thr1193Pro)
c.1771A>C (p.Thr591Pro)
 dbSNP
2g.237371840T=CA1337623174COL6A3c.3559A= (p.Thr1187=)
c.8A=
c.4177A= (p.Thr1393=)
c.2356A= (p.Thr786=)
c.2956A= (p.Thr986=)
c.3577A= (p.Thr1193=)
c.1771A= (p.Thr591=)
2g.237371841G>ACA431711206COL6A3c.3558C>T (p.Ser1186=)
c.7C>T
c.4176C>T (p.Ser1392=)
c.2355C>T (p.Ser785=)
c.2955C>T (p.Ser985=)
c.3576C>T (p.Ser1192=)
c.1770C>T (p.Ser590=)
2g.237371841G>CCA351196656COL6A3c.3558C>G (p.Ser1186Arg)
c.7C>G
c.4176C>G (p.Ser1392Arg)
c.2355C>G (p.Ser785Arg)
c.2955C>G (p.Ser985Arg)
c.3576C>G (p.Ser1192Arg)
c.1770C>G (p.Ser590Arg)
2g.237371841G>TCA351196658COL6A3c.3558C>A (p.Ser1186Arg)
c.7C>A
c.4176C>A (p.Ser1392Arg)
c.2355C>A (p.Ser785Arg)
c.2955C>A (p.Ser985Arg)
c.3576C>A (p.Ser1192Arg)
c.1770C>A (p.Ser590Arg)
 gnomAD v4
2g.237371842C>ACA351196659COL6A3c.3557G>T (p.Ser1186Ile)
c.6G>T
c.4175G>T (p.Ser1392Ile)
c.2354G>T (p.Ser785Ile)
c.2954G>T (p.Ser985Ile)
c.3575G>T (p.Ser1192Ile)
c.1769G>T (p.Ser590Ile)
2g.237371842C=CA1337623175COL6A3c.3557G= (p.Ser1186=)
c.6G=
c.4175G= (p.Ser1392=)
c.2354G= (p.Ser785=)
c.2954G= (p.Ser985=)
c.3575G= (p.Ser1192=)
c.1769G= (p.Ser590=)
2g.237371842C>GCA351196662COL6A3c.3557G>C (p.Ser1186Thr)
c.6G>C
c.4175G>C (p.Ser1392Thr)
c.2354G>C (p.Ser785Thr)
c.2954G>C (p.Ser985Thr)
c.3575G>C (p.Ser1192Thr)
c.1769G>C (p.Ser590Thr)
2g.237371842C>TCA351196664COL6A3c.3557G>A (p.Ser1186Asn)
c.6G>A
c.4175G>A (p.Ser1392Asn)
c.2354G>A (p.Ser785Asn)
c.2954G>A (p.Ser985Asn)
c.3575G>A (p.Ser1192Asn)
c.1769G>A (p.Ser590Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237371843T>ACA351196667COL6A3c.3556A>T (p.Ser1186Cys)
c.5A>T
c.4174A>T (p.Ser1392Cys)
c.2353A>T (p.Ser785Cys)
c.2953A>T (p.Ser985Cys)
c.3574A>T (p.Ser1192Cys)
c.1768A>T (p.Ser590Cys)
2g.237371843T>CCA351196669COL6A3c.3556A>G (p.Ser1186Gly)
c.5A>G
c.4174A>G (p.Ser1392Gly)
c.2353A>G (p.Ser785Gly)
c.2953A>G (p.Ser985Gly)
c.3574A>G (p.Ser1192Gly)
c.1768A>G (p.Ser590Gly)
2g.237371843T>GCA351196671COL6A3c.3556A>C (p.Ser1186Arg)
c.5A>C
c.4174A>C (p.Ser1392Arg)
c.2353A>C (p.Ser785Arg)
c.2953A>C (p.Ser985Arg)
c.3574A>C (p.Ser1192Arg)
c.1768A>C (p.Ser590Arg)
2g.237371844C>ACA431711208COL6A3c.3555G>T (p.Val1185=)
c.4G>T
c.4173G>T (p.Val1391=)
c.2352G>T (p.Val784=)
c.2952G>T (p.Val984=)
c.3573G>T (p.Val1191=)
c.1767G>T (p.Val589=)
2g.237371844C=CA1337623176COL6A3c.3555G= (p.Val1185=)
c.4G=
c.4173G= (p.Val1391=)
c.2352G= (p.Val784=)
c.2952G= (p.Val984=)
c.3573G= (p.Val1191=)
c.1767G= (p.Val589=)
2g.237371844C>GCA431711209COL6A3c.3555G>C (p.Val1185=)
c.4G>C
c.4173G>C (p.Val1391=)
c.2352G>C (p.Val784=)
c.2952G>C (p.Val984=)
c.3573G>C (p.Val1191=)
c.1767G>C (p.Val589=)
2g.237371844C>TCA431711210COL6A3c.3555G>A (p.Val1185=)
c.4G>A
c.4173G>A (p.Val1391=)
c.2352G>A (p.Val784=)
c.2952G>A (p.Val984=)
c.3573G>A (p.Val1191=)
c.1767G>A (p.Val589=)
 ClinVar dbSNP
2g.237371845A>CCA351196678COL6A3c.3554T>G (p.Val1185Gly)
c.3T>G
c.4172T>G (p.Val1391Gly)
c.2351T>G (p.Val784Gly)
c.2951T>G (p.Val984Gly)
c.3572T>G (p.Val1191Gly)
c.1766T>G (p.Val589Gly)
2g.237371845A>GCA351196674COL6A3c.3554T>C (p.Val1185Ala)
c.3T>C
c.4172T>C (p.Val1391Ala)
c.2351T>C (p.Val784Ala)
c.2951T>C (p.Val984Ala)
c.3572T>C (p.Val1191Ala)
c.1766T>C (p.Val589Ala)
2g.237371845A>TCA351196675COL6A3c.3554T>A (p.Val1185Glu)
c.3T>A
c.4172T>A (p.Val1391Glu)
c.2351T>A (p.Val784Glu)
c.2951T>A (p.Val984Glu)
c.3572T>A (p.Val1191Glu)
c.1766T>A (p.Val589Glu)
2g.237371846C>ACA351196680COL6A3c.3553G>T (p.Val1185Leu)
c.2G>T
c.4171G>T (p.Val1391Leu)
c.2350G>T (p.Val784Leu)
c.2950G>T (p.Val984Leu)
c.3571G>T (p.Val1191Leu)
c.1765G>T (p.Val589Leu)
2g.237371846C=CA1337623177COL6A3c.3553G= (p.Val1185=)
c.2G=
c.4171G= (p.Val1391=)
c.2350G= (p.Val784=)
c.2950G= (p.Val984=)
c.3571G= (p.Val1191=)
c.1765G= (p.Val589=)
2g.237371846C>GCA351196682COL6A3c.3553G>C (p.Val1185Leu)
c.2G>C
c.4171G>C (p.Val1391Leu)
c.2350G>C (p.Val784Leu)
c.2950G>C (p.Val984Leu)
c.3571G>C (p.Val1191Leu)
c.1765G>C (p.Val589Leu)
2g.237371846C>TCA351196684COL6A3c.3553G>A (p.Val1185Met)
c.2G>A
c.4171G>A (p.Val1391Met)
c.2350G>A (p.Val784Met)
c.2950G>A (p.Val984Met)
c.3571G>A (p.Val1191Met)
c.1765G>A (p.Val589Met)
 dbSNP gnomAD v3 gnomAD v4
2g.237371847C>ACA431711211COL6A3c.3552G>T (p.Ser1184=)
c.1G>T
c.4170G>T (p.Ser1390=)
c.2349G>T (p.Ser783=)
c.2949G>T (p.Ser983=)
c.3570G>T (p.Ser1190=)
c.1764G>T (p.Ser588=)
2g.237371847C=CA1337623178COL6A3c.3552G= (p.Ser1184=)
c.1G=
c.4170G= (p.Ser1390=)
c.2349G= (p.Ser783=)
c.2949G= (p.Ser983=)
c.3570G= (p.Ser1190=)
c.1764G= (p.Ser588=)
2g.237371847C>GCA431711212COL6A3c.3552G>C (p.Ser1184=)
c.1G>C
c.4170G>C (p.Ser1390=)
c.2349G>C (p.Ser783=)
c.2949G>C (p.Ser983=)
c.3570G>C (p.Ser1190=)
c.1764G>C (p.Ser588=)
 dbSNP gnomAD v3 gnomAD v4
2g.237371847C>TCA2188981COL6A3c.3552G>A (p.Ser1184=)
c.1G>A
c.4170G>A (p.Ser1390=)
c.2349G>A (p.Ser783=)
c.2949G>A (p.Ser983=)
c.3570G>A (p.Ser1190=)
c.1764G>A (p.Ser588=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237371847_237371848insTTTTTCA1043809532COL6A3c.3551_3552insAAAAA (p.Val1185LysfsTer3)
c.4169_4170insAAAAA (p.Val1391LysfsTer3)
c.2348_2349insAAAAA (p.Val784LysfsTer3)
c.2948_2949insAAAAA (p.Val984LysfsTer3)
c.3569_3570insAAAAA (p.Val1191LysfsTer3)
c.1763_1764insAAAAA (p.Val589LysfsTer3)
 gnomAD v3 gnomAD v4
2g.237371847_237371848insTTTTTTAATCA540749832COL6A3c.3551_3552insATTAAAAAA (p.Ser1184_Val1185insLeuLysLys)
c.4169_4170insATTAAAAAA (p.Ser1390_Val1391insLeuLysLys)
c.2348_2349insATTAAAAAA (p.Ser783_Val784insLeuLysLys)
c.2948_2949insATTAAAAAA (p.Ser983_Val984insLeuLysLys)
c.3569_3570insATTAAAAAA (p.Ser1190_Val1191insLeuLysLys)
c.1763_1764insATTAAAAAA (p.Ser588_Val589insLeuLysLys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371847_237371848insTTTTTTACTCA1043809528COL6A3c.3551_3552insAGTAAAAAA (p.Ser1184_Val1185insValLysLys)
c.4169_4170insAGTAAAAAA (p.Ser1390_Val1391insValLysLys)
c.2348_2349insAGTAAAAAA (p.Ser783_Val784insValLysLys)
c.2948_2949insAGTAAAAAA (p.Ser983_Val984insValLysLys)
c.3569_3570insAGTAAAAAA (p.Ser1190_Val1191insValLysLys)
c.1763_1764insAGTAAAAAA (p.Ser588_Val589insValLysLys)
 gnomAD v3 gnomAD v4
2g.237371848G>ACA2188982COL6A3c.3551C>T (p.Ser1184Leu)
c.4169C>T (p.Ser1390Leu)
c.2348C>T (p.Ser783Leu)
c.2948C>T (p.Ser983Leu)
c.3569C>T (p.Ser1190Leu)
c.1763C>T (p.Ser588Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371848G>CCA351196687COL6A3c.3551C>G (p.Ser1184Trp)
c.4169C>G (p.Ser1390Trp)
c.2348C>G (p.Ser783Trp)
c.2948C>G (p.Ser983Trp)
c.3569C>G (p.Ser1190Trp)
c.1763C>G (p.Ser588Trp)
2g.237371848G=CA1337623179COL6A3c.3551C= (p.Ser1184=)
c.4169C= (p.Ser1390=)
c.2348C= (p.Ser783=)
c.2948C= (p.Ser983=)
c.3569C= (p.Ser1190=)
c.1763C= (p.Ser588=)
2g.237371848G>TCA351196688COL6A3c.3551C>A (p.Ser1184Ter)
c.4169C>A (p.Ser1390Ter)
c.2348C>A (p.Ser783Ter)
c.2948C>A (p.Ser983Ter)
c.3569C>A (p.Ser1190Ter)
c.1763C>A (p.Ser588Ter)
 gnomAD v3 gnomAD v4
2g.237371848_237371855delinsGAGAACACCA1337623180COL6A3c.3544_3551delinsGTGTTCTC (p.Val1182=)
c.4162_4169delinsGTGTTCTC (p.Val1388=)
c.2341_2348delinsGTGTTCTC (p.Val781=)
c.2941_2948delinsGTGTTCTC (p.Val981=)
c.3562_3569delinsGTGTTCTC (p.Val1188=)
c.1756_1763delinsGTGTTCTC (p.Val586=)
2g.237371848_237371856delCA1043809530COL6A3c.3543_3551del (p.Tyr1181Ter)
c.4161_4169del (p.Tyr1387Ter)
c.2340_2348del (p.Tyr780Ter)
c.2940_2948del (p.Tyr980Ter)
c.3561_3569del (p.Tyr1187Ter)
c.1755_1763del (p.Tyr585Ter)
 gnomAD v3 gnomAD v4
2g.237371849A>CCA351196692COL6A3c.3550T>G (p.Ser1184Ala)
c.4168T>G (p.Ser1390Ala)
c.2347T>G (p.Ser783Ala)
c.2947T>G (p.Ser983Ala)
c.3568T>G (p.Ser1190Ala)
c.1762T>G (p.Ser588Ala)
2g.237371849A>GCA351196694COL6A3c.3550T>C (p.Ser1184Pro)
c.4168T>C (p.Ser1390Pro)
c.2347T>C (p.Ser783Pro)
c.2947T>C (p.Ser983Pro)
c.3568T>C (p.Ser1190Pro)
c.1762T>C (p.Ser588Pro)
2g.237371849A>TCA351196696COL6A3c.3550T>A (p.Ser1184Thr)
c.4168T>A (p.Ser1390Thr)
c.2347T>A (p.Ser783Thr)
c.2947T>A (p.Ser983Thr)
c.3568T>A (p.Ser1190Thr)
c.1762T>A (p.Ser588Thr)
2g.237371850_237371856delCA540749833COL6A3c.3544_3550del (p.Val1182ArgfsTer2)
c.4162_4168del (p.Val1388ArgfsTer2)
c.2341_2347del (p.Val781ArgfsTer2)
c.2941_2947del (p.Val981ArgfsTer2)
c.3562_3568del (p.Val1188ArgfsTer2)
c.1756_1762del (p.Val586ArgfsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371850G>ACA431711217COL6A3c.3549C>T (p.Phe1183=)
c.4167C>T (p.Phe1389=)
c.2346C>T (p.Phe782=)
c.2946C>T (p.Phe982=)
c.3567C>T (p.Phe1189=)
c.1761C>T (p.Phe587=)
2g.237371850G>CCA351196698COL6A3c.3549C>G (p.Phe1183Leu)
c.4167C>G (p.Phe1389Leu)
c.2346C>G (p.Phe782Leu)
c.2946C>G (p.Phe982Leu)
c.3567C>G (p.Phe1189Leu)
c.1761C>G (p.Phe587Leu)
2g.237371850G>TCA351196701COL6A3c.3549C>A (p.Phe1183Leu)
c.4167C>A (p.Phe1389Leu)
c.2346C>A (p.Phe782Leu)
c.2946C>A (p.Phe982Leu)
c.3567C>A (p.Phe1189Leu)
c.1761C>A (p.Phe587Leu)
 gnomAD v4
2g.237371850_237371855delCA1043809537COL6A3c.3544_3549del (p.Val1182_Phe1183del)
c.4162_4167del (p.Val1388_Phe1389del)
c.2341_2346del (p.Val781_Phe782del)
c.2941_2946del (p.Val981_Phe982del)
c.3562_3567del (p.Val1188_Phe1189del)
c.1756_1761del (p.Val586_Phe587del)
 gnomAD v3 gnomAD v4
2g.237371851A>CCA351196707COL6A3c.3548T>G (p.Phe1183Cys)
c.4166T>G (p.Phe1389Cys)
c.2345T>G (p.Phe782Cys)
c.2945T>G (p.Phe982Cys)
c.3566T>G (p.Phe1189Cys)
c.1760T>G (p.Phe587Cys)
2g.237371851A>GCA351196705COL6A3c.3548T>C (p.Phe1183Ser)
c.4166T>C (p.Phe1389Ser)
c.2345T>C (p.Phe782Ser)
c.2945T>C (p.Phe982Ser)
c.3566T>C (p.Phe1189Ser)
c.1760T>C (p.Phe587Ser)
2g.237371851A>TCA351196703COL6A3c.3548T>A (p.Phe1183Tyr)
c.4166T>A (p.Phe1389Tyr)
c.2345T>A (p.Phe782Tyr)
c.2945T>A (p.Phe982Tyr)
c.3566T>A (p.Phe1189Tyr)
c.1760T>A (p.Phe587Tyr)
2g.237371852A>CCA351196709COL6A3c.3547T>G (p.Phe1183Val)
c.4165T>G (p.Phe1389Val)
c.2344T>G (p.Phe782Val)
c.2944T>G (p.Phe982Val)
c.3565T>G (p.Phe1189Val)
c.1759T>G (p.Phe587Val)
2g.237371852A>GCA351196711COL6A3c.3547T>C (p.Phe1183Leu)
c.4165T>C (p.Phe1389Leu)
c.2344T>C (p.Phe782Leu)
c.2944T>C (p.Phe982Leu)
c.3565T>C (p.Phe1189Leu)
c.1759T>C (p.Phe587Leu)
2g.237371852A>TCA351196713COL6A3c.3547T>A (p.Phe1183Ile)
c.4165T>A (p.Phe1389Ile)
c.2344T>A (p.Phe782Ile)
c.2944T>A (p.Phe982Ile)
c.3565T>A (p.Phe1189Ile)
c.1759T>A (p.Phe587Ile)
 gnomAD v3 gnomAD v4
2g.237371853C>ACA431711222COL6A3c.3546G>T (p.Val1182=)
c.4164G>T (p.Val1388=)
c.2343G>T (p.Val781=)
c.2943G>T (p.Val981=)
c.3564G>T (p.Val1188=)
c.1758G>T (p.Val586=)
2g.237371853C>GCA431711219COL6A3c.3546G>C (p.Val1182=)
c.4164G>C (p.Val1388=)
c.2343G>C (p.Val781=)
c.2943G>C (p.Val981=)
c.3564G>C (p.Val1188=)
c.1758G>C (p.Val586=)
2g.237371853C>TCA431711220COL6A3c.3546G>A (p.Val1182=)
c.4164G>A (p.Val1388=)
c.2343G>A (p.Val781=)
c.2943G>A (p.Val981=)
c.3564G>A (p.Val1188=)
c.1758G>A (p.Val586=)
 ClinVar gnomAD v4
2g.237371854A=CA1337623181COL6A3c.3545T= (p.Val1182=)
c.4163T= (p.Val1388=)
c.2342T= (p.Val781=)
c.2942T= (p.Val981=)
c.3563T= (p.Val1188=)
c.1757T= (p.Val586=)
2g.237371854A>CCA351196716COL6A3c.3545T>G (p.Val1182Gly)
c.4163T>G (p.Val1388Gly)
c.2342T>G (p.Val781Gly)
c.2942T>G (p.Val981Gly)
c.3563T>G (p.Val1188Gly)
c.1757T>G (p.Val586Gly)
2g.237371854A>GCA67818729COL6A3c.3545T>C (p.Val1182Ala)
c.4163T>C (p.Val1388Ala)
c.2342T>C (p.Val781Ala)
c.2942T>C (p.Val981Ala)
c.3563T>C (p.Val1188Ala)
c.1757T>C (p.Val586Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237371854A>TCA351196718COL6A3c.3545T>A (p.Val1182Glu)
c.4163T>A (p.Val1388Glu)
c.2342T>A (p.Val781Glu)
c.2942T>A (p.Val981Glu)
c.3563T>A (p.Val1188Glu)
c.1757T>A (p.Val586Glu)
2g.237371855C>ACA351196726COL6A3c.3544G>T (p.Val1182Leu)
c.4162G>T (p.Val1388Leu)
c.2341G>T (p.Val781Leu)
c.2941G>T (p.Val981Leu)
c.3562G>T (p.Val1188Leu)
c.1756G>T (p.Val586Leu)
2g.237371855C=CA1337623182COL6A3c.3544G= (p.Val1182=)
c.4162G= (p.Val1388=)
c.2341G= (p.Val781=)
c.2941G= (p.Val981=)
c.3562G= (p.Val1188=)
c.1756G= (p.Val586=)
2g.237371855C>GCA351196721COL6A3c.3544G>C (p.Val1182Leu)
c.4162G>C (p.Val1388Leu)
c.2341G>C (p.Val781Leu)
c.2941G>C (p.Val981Leu)
c.3562G>C (p.Val1188Leu)
c.1756G>C (p.Val586Leu)
2g.237371855C>TCA351196724COL6A3c.3544G>A (p.Val1182Met)
c.4162G>A (p.Val1388Met)
c.2341G>A (p.Val781Met)
c.2941G>A (p.Val981Met)
c.3562G>A (p.Val1188Met)
c.1756G>A (p.Val586Met)
 ClinVar dbSNP gnomAD v4
2g.237371856A>CCA351196728COL6A3c.3543T>G (p.Tyr1181Ter)
c.4161T>G (p.Tyr1387Ter)
c.2340T>G (p.Tyr780Ter)
c.2940T>G (p.Tyr980Ter)
c.3561T>G (p.Tyr1187Ter)
c.1755T>G (p.Tyr585Ter)
2g.237371856A>GCA431711225COL6A3c.3543T>C (p.Tyr1181=)
c.4161T>C (p.Tyr1387=)
c.2340T>C (p.Tyr780=)
c.2940T>C (p.Tyr980=)
c.3561T>C (p.Tyr1187=)
c.1755T>C (p.Tyr585=)
 gnomAD v4
2g.237371856A>TCA351196730COL6A3c.3543T>A (p.Tyr1181Ter)
c.4161T>A (p.Tyr1387Ter)
c.2340T>A (p.Tyr780Ter)
c.2940T>A (p.Tyr980Ter)
c.3561T>A (p.Tyr1187Ter)
c.1755T>A (p.Tyr585Ter)
 gnomAD v3 gnomAD v4
2g.237371857T>ACA351196732COL6A3c.3542A>T (p.Tyr1181Phe)
c.4160A>T (p.Tyr1387Phe)
c.2339A>T (p.Tyr780Phe)
c.2939A>T (p.Tyr980Phe)
c.3560A>T (p.Tyr1187Phe)
c.1754A>T (p.Tyr585Phe)
2g.237371857T>CCA2188983COL6A3c.3542A>G (p.Tyr1181Cys)
c.4160A>G (p.Tyr1387Cys)
c.2339A>G (p.Tyr780Cys)
c.2939A>G (p.Tyr980Cys)
c.3560A>G (p.Tyr1187Cys)
c.1754A>G (p.Tyr585Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371857T>GCA351196735COL6A3c.3542A>C (p.Tyr1181Ser)
c.4160A>C (p.Tyr1387Ser)
c.2339A>C (p.Tyr780Ser)
c.2939A>C (p.Tyr980Ser)
c.3560A>C (p.Tyr1187Ser)
c.1754A>C (p.Tyr585Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.237371857T=CA1337623183COL6A3c.3542A= (p.Tyr1181=)
c.4160A= (p.Tyr1387=)
c.2339A= (p.Tyr780=)
c.2939A= (p.Tyr980=)
c.3560A= (p.Tyr1187=)
c.1754A= (p.Tyr585=)
2g.237371857_237371858insGCA1043809547COL6A3c.3541_3542insC (p.Tyr1181SerfsTer?)
c.4159_4160insC (p.Tyr1387SerfsTer?)
c.2338_2339insC (p.Tyr780SerfsTer?)
c.2938_2939insC (p.Tyr980SerfsTer?)
c.3559_3560insC (p.Tyr1187SerfsTer?)
c.1753_1754insC (p.Tyr585SerfsTer?)
 gnomAD v3 gnomAD v4
2g.237371858A>CCA351196738COL6A3c.3541T>G (p.Tyr1181Asp)
c.4159T>G (p.Tyr1387Asp)
c.2338T>G (p.Tyr780Asp)
c.2938T>G (p.Tyr980Asp)
c.3559T>G (p.Tyr1187Asp)
c.1753T>G (p.Tyr585Asp)
2g.237371858A>GCA351196742COL6A3c.3541T>C (p.Tyr1181His)
c.4159T>C (p.Tyr1387His)
c.2338T>C (p.Tyr780His)
c.2938T>C (p.Tyr980His)
c.3559T>C (p.Tyr1187His)
c.1753T>C (p.Tyr585His)
2g.237371858A>TCA351196740COL6A3c.3541T>A (p.Tyr1181Asn)
c.4159T>A (p.Tyr1387Asn)
c.2338T>A (p.Tyr780Asn)
c.2938T>A (p.Tyr980Asn)
c.3559T>A (p.Tyr1187Asn)
c.1753T>A (p.Tyr585Asn)
2g.237371858_237371860delinsATTCA1337623184COL6A3c.3539_3541delinsAAT (p.Glu1180=)
c.4157_4159delinsAAT (p.Glu1386=)
c.2336_2338delinsAAT (p.Glu779=)
c.2936_2938delinsAAT (p.Glu979=)
c.3557_3559delinsAAT (p.Glu1186=)
c.1751_1753delinsAAT (p.Glu584=)
2g.237371859T>ACA351196745COL6A3c.3540A>T (p.Glu1180Asp)
c.4158A>T (p.Glu1386Asp)
c.2337A>T (p.Glu779Asp)
c.2937A>T (p.Glu979Asp)
c.3558A>T (p.Glu1186Asp)
c.1752A>T (p.Glu584Asp)
2g.237371859T>CCA431711228COL6A3c.3540A>G (p.Glu1180=)
c.4158A>G (p.Glu1386=)
c.2337A>G (p.Glu779=)
c.2937A>G (p.Glu979=)
c.3558A>G (p.Glu1186=)
c.1752A>G (p.Glu584=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371859T>GCA351196747COL6A3c.3540A>C (p.Glu1180Asp)
c.4158A>C (p.Glu1386Asp)
c.2337A>C (p.Glu779Asp)
c.2937A>C (p.Glu979Asp)
c.3558A>C (p.Glu1186Asp)
c.1752A>C (p.Glu584Asp)
2g.237371859T=CA1337623185COL6A3c.3540A= (p.Glu1180=)
c.4158A= (p.Glu1386=)
c.2337A= (p.Glu779=)
c.2937A= (p.Glu979=)
c.3558A= (p.Glu1186=)
c.1752A= (p.Glu584=)
2g.237371859_237371860delCA540749834COL6A3c.3539_3540del (p.Glu1180ValfsTer?)
c.4157_4158del (p.Glu1386ValfsTer?)
c.2336_2337del (p.Glu779ValfsTer?)
c.2936_2937del (p.Glu979ValfsTer?)
c.3557_3558del (p.Glu1186ValfsTer?)
c.1751_1752del (p.Glu584ValfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371860T>ACA351196749COL6A3c.3539A>T (p.Glu1180Val)
c.4157A>T (p.Glu1386Val)
c.2336A>T (p.Glu779Val)
c.2936A>T (p.Glu979Val)
c.3557A>T (p.Glu1186Val)
c.1751A>T (p.Glu584Val)
2g.237371860T>CCA351196750COL6A3c.3539A>G (p.Glu1180Gly)
c.4157A>G (p.Glu1386Gly)
c.2336A>G (p.Glu779Gly)
c.2936A>G (p.Glu979Gly)
c.3557A>G (p.Glu1186Gly)
c.1751A>G (p.Glu584Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.237371860T>GCA351196752COL6A3c.3539A>C (p.Glu1180Ala)
c.4157A>C (p.Glu1386Ala)
c.2336A>C (p.Glu779Ala)
c.2936A>C (p.Glu979Ala)
c.3557A>C (p.Glu1186Ala)
c.1751A>C (p.Glu584Ala)
 gnomAD v4
2g.237371860T=CA1337623186COL6A3c.3539A= (p.Glu1180=)
c.4157A= (p.Glu1386=)
c.2336A= (p.Glu779=)
c.2936A= (p.Glu979=)
c.3557A= (p.Glu1186=)
c.1751A= (p.Glu584=)
2g.237371861C>ACA351196755COL6A3c.3538G>T (p.Glu1180Ter)
c.4156G>T (p.Glu1386Ter)
c.2335G>T (p.Glu779Ter)
c.2935G>T (p.Glu979Ter)
c.3556G>T (p.Glu1186Ter)
c.1750G>T (p.Glu584Ter)
2g.237371861C=CA1337623187COL6A3c.3538G= (p.Glu1180=)
c.4156G= (p.Glu1386=)
c.2335G= (p.Glu779=)
c.2935G= (p.Glu979=)
c.3556G= (p.Glu1186=)
c.1750G= (p.Glu584=)
2g.237371861C>GCA351196756COL6A3c.3538G>C (p.Glu1180Gln)
c.4156G>C (p.Glu1386Gln)
c.2335G>C (p.Glu779Gln)
c.2935G>C (p.Glu979Gln)
c.3556G>C (p.Glu1186Gln)
c.1750G>C (p.Glu584Gln)
2g.237371861C>TCA203744COL6A3c.3538G>A (p.Glu1180Lys)
c.4156G>A (p.Glu1386Lys)
c.2335G>A (p.Glu779Lys)
c.2935G>A (p.Glu979Lys)
c.3556G>A (p.Glu1186Lys)
c.1750G>A (p.Glu584Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371862G>ACA2188984COL6A3c.3537C>T (p.Pro1179=)
c.4155C>T (p.Pro1385=)
c.2334C>T (p.Pro778=)
c.2934C>T (p.Pro978=)
c.3555C>T (p.Pro1185=)
c.1749C>T (p.Pro583=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237371862G>CCA431711230COL6A3c.3537C>G (p.Pro1179=)
c.4155C>G (p.Pro1385=)
c.2334C>G (p.Pro778=)
c.2934C>G (p.Pro978=)
c.3555C>G (p.Pro1185=)
c.1749C>G (p.Pro583=)
2g.237371862G=CA1337623188COL6A3c.3537C= (p.Pro1179=)
c.4155C= (p.Pro1385=)
c.2334C= (p.Pro778=)
c.2934C= (p.Pro978=)
c.3555C= (p.Pro1185=)
c.1749C= (p.Pro583=)
2g.237371862G>TCA431711229COL6A3c.3537C>A (p.Pro1179=)
c.4155C>A (p.Pro1385=)
c.2334C>A (p.Pro778=)
c.2934C>A (p.Pro978=)
c.3555C>A (p.Pro1185=)
c.1749C>A (p.Pro583=)
2g.237371865delCA2663798957COL6A3c.3537del (p.Glu1180AsnfsTer6)
c.4155del (p.Glu1386AsnfsTer6)
c.2334del (p.Glu779AsnfsTer6)
c.2934del (p.Glu979AsnfsTer6)
c.3555del (p.Glu1186AsnfsTer6)
c.1749del (p.Glu584AsnfsTer6)
 gnomAD v4
2g.237371863G>ACA351196761COL6A3c.3536C>T (p.Pro1179Leu)
c.4154C>T (p.Pro1385Leu)
c.2333C>T (p.Pro778Leu)
c.2933C>T (p.Pro978Leu)
c.3554C>T (p.Pro1185Leu)
c.1748C>T (p.Pro583Leu)
 COSMIC COSMIC
2g.237371863G>CCA351196762COL6A3c.3536C>G (p.Pro1179Arg)
c.4154C>G (p.Pro1385Arg)
c.2333C>G (p.Pro778Arg)
c.2933C>G (p.Pro978Arg)
c.3554C>G (p.Pro1185Arg)
c.1748C>G (p.Pro583Arg)
2g.237371863G>TCA351196763COL6A3c.3536C>A (p.Pro1179His)
c.4154C>A (p.Pro1385His)
c.2333C>A (p.Pro778His)
c.2933C>A (p.Pro978His)
c.3554C>A (p.Pro1185His)
c.1748C>A (p.Pro583His)
2g.237371864G>ACA351196768COL6A3c.3535C>T (p.Pro1179Ser)
c.4153C>T (p.Pro1385Ser)
c.2332C>T (p.Pro778Ser)
c.2932C>T (p.Pro978Ser)
c.3553C>T (p.Pro1185Ser)
c.1747C>T (p.Pro583Ser)
 dbSNP gnomAD v4
2g.237371864G>CCA351196770COL6A3c.3535C>G (p.Pro1179Ala)
c.4153C>G (p.Pro1385Ala)
c.2332C>G (p.Pro778Ala)
c.2932C>G (p.Pro978Ala)
c.3553C>G (p.Pro1185Ala)
c.1747C>G (p.Pro583Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371864G=CA1337623189COL6A3c.3535C= (p.Pro1179=)
c.4153C= (p.Pro1385=)
c.2332C= (p.Pro778=)
c.2932C= (p.Pro978=)
c.3553C= (p.Pro1185=)
c.1747C= (p.Pro583=)
2g.237371864G>TCA351196767COL6A3c.3535C>A (p.Pro1179Thr)
c.4153C>A (p.Pro1385Thr)
c.2332C>A (p.Pro778Thr)
c.2932C>A (p.Pro978Thr)
c.3553C>A (p.Pro1185Thr)
c.1747C>A (p.Pro583Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.237371865G>ACA431711231COL6A3c.3534C>T (p.Ser1178=)
c.4152C>T (p.Ser1384=)
c.2331C>T (p.Ser777=)
c.2931C>T (p.Ser977=)
c.3552C>T (p.Ser1184=)
c.1746C>T (p.Ser582=)
 ClinVar dbSNP
2g.237371865G>CCA351196774COL6A3c.3534C>G (p.Ser1178Arg)
c.4152C>G (p.Ser1384Arg)
c.2331C>G (p.Ser777Arg)
c.2931C>G (p.Ser977Arg)
c.3552C>G (p.Ser1184Arg)
c.1746C>G (p.Ser582Arg)
2g.237371865G=CA1337623190COL6A3c.3534C= (p.Ser1178=)
c.4152C= (p.Ser1384=)
c.2331C= (p.Ser777=)
c.2931C= (p.Ser977=)
c.3552C= (p.Ser1184=)
c.1746C= (p.Ser582=)
2g.237371865G>TCA351196773COL6A3c.3534C>A (p.Ser1178Arg)
c.4152C>A (p.Ser1384Arg)
c.2331C>A (p.Ser777Arg)
c.2931C>A (p.Ser977Arg)
c.3552C>A (p.Ser1184Arg)
c.1746C>A (p.Ser582Arg)
2g.237371866C>ACA351196781COL6A3c.3533G>T (p.Ser1178Ile)
c.4151G>T (p.Ser1384Ile)
c.2330G>T (p.Ser777Ile)
c.2930G>T (p.Ser977Ile)
c.3551G>T (p.Ser1184Ile)
c.1745G>T (p.Ser582Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371866C=CA1337623191COL6A3c.3533G= (p.Ser1178=)
c.4151G= (p.Ser1384=)
c.2330G= (p.Ser777=)
c.2930G= (p.Ser977=)
c.3551G= (p.Ser1184=)
c.1745G= (p.Ser582=)
2g.237371866C>GCA351196777COL6A3c.3533G>C (p.Ser1178Thr)
c.4151G>C (p.Ser1384Thr)
c.2330G>C (p.Ser777Thr)
c.2930G>C (p.Ser977Thr)
c.3551G>C (p.Ser1184Thr)
c.1745G>C (p.Ser582Thr)
2g.237371866C>TCA351196779COL6A3c.3533G>A (p.Ser1178Asn)
c.4151G>A (p.Ser1384Asn)
c.2330G>A (p.Ser777Asn)
c.2930G>A (p.Ser977Asn)
c.3551G>A (p.Ser1184Asn)
c.1745G>A (p.Ser582Asn)
2g.237371867T>ACA351196784COL6A3c.3532A>T (p.Ser1178Cys)
c.4150A>T (p.Ser1384Cys)
c.2329A>T (p.Ser777Cys)
c.2929A>T (p.Ser977Cys)
c.3550A>T (p.Ser1184Cys)
c.1744A>T (p.Ser582Cys)
2g.237371867T>CCA351196786COL6A3c.3532A>G (p.Ser1178Gly)
c.4150A>G (p.Ser1384Gly)
c.2329A>G (p.Ser777Gly)
c.2929A>G (p.Ser977Gly)
c.3550A>G (p.Ser1184Gly)
c.1744A>G (p.Ser582Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371867T>GCA351196788COL6A3c.3532A>C (p.Ser1178Arg)
c.4150A>C (p.Ser1384Arg)
c.2329A>C (p.Ser777Arg)
c.2929A>C (p.Ser977Arg)
c.3550A>C (p.Ser1184Arg)
c.1744A>C (p.Ser582Arg)
2g.237371867T=CA1337623192COL6A3c.3532A= (p.Ser1178=)
c.4150A= (p.Ser1384=)
c.2329A= (p.Ser777=)
c.2929A= (p.Ser977=)
c.3550A= (p.Ser1184=)
c.1744A= (p.Ser582=)
2g.237371868C>ACA431711234COL6A3c.3531G>T (p.Leu1177=)
c.4149G>T (p.Leu1383=)
c.2328G>T (p.Leu776=)
c.2928G>T (p.Leu976=)
c.3549G>T (p.Leu1183=)
c.1743G>T (p.Leu581=)
2g.237371868C=CA1337623193COL6A3c.3531G= (p.Leu1177=)
c.4149G= (p.Leu1383=)
c.2328G= (p.Leu776=)
c.2928G= (p.Leu976=)
c.3549G= (p.Leu1183=)
c.1743G= (p.Leu581=)
2g.237371868C>GCA431711235COL6A3c.3531G>C (p.Leu1177=)
c.4149G>C (p.Leu1383=)
c.2328G>C (p.Leu776=)
c.2928G>C (p.Leu976=)
c.3549G>C (p.Leu1183=)
c.1743G>C (p.Leu581=)
2g.237371868C>TCA431711236COL6A3c.3531G>A (p.Leu1177=)
c.4149G>A (p.Leu1383=)
c.2328G>A (p.Leu776=)
c.2928G>A (p.Leu976=)
c.3549G>A (p.Leu1183=)
c.1743G>A (p.Leu581=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237371869A>CCA351196791COL6A3c.3530T>G (p.Leu1177Arg)
c.4148T>G (p.Leu1383Arg)
c.2327T>G (p.Leu776Arg)
c.2927T>G (p.Leu976Arg)
c.3548T>G (p.Leu1183Arg)
c.1742T>G (p.Leu581Arg)
2g.237371869A>GCA351196793COL6A3c.3530T>C (p.Leu1177Pro)
c.4148T>C (p.Leu1383Pro)
c.2327T>C (p.Leu776Pro)
c.2927T>C (p.Leu976Pro)
c.3548T>C (p.Leu1183Pro)
c.1742T>C (p.Leu581Pro)
2g.237371869A>TCA351196794COL6A3c.3530T>A (p.Leu1177Gln)
c.4148T>A (p.Leu1383Gln)
c.2327T>A (p.Leu776Gln)
c.2927T>A (p.Leu976Gln)
c.3548T>A (p.Leu1183Gln)
c.1742T>A (p.Leu581Gln)
2g.237371870G>ACA431711237COL6A3c.3529C>T (p.Leu1177=)
c.4147C>T (p.Leu1383=)
c.2326C>T (p.Leu776=)
c.2926C>T (p.Leu976=)
c.3547C>T (p.Leu1183=)
c.1741C>T (p.Leu581=)
2g.237371870G>CCA351196796COL6A3c.3529C>G (p.Leu1177Val)
c.4147C>G (p.Leu1383Val)
c.2326C>G (p.Leu776Val)
c.2926C>G (p.Leu976Val)
c.3547C>G (p.Leu1183Val)
c.1741C>G (p.Leu581Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371870G=CA1337623194COL6A3c.3529C= (p.Leu1177=)
c.4147C= (p.Leu1383=)
c.2326C= (p.Leu776=)
c.2926C= (p.Leu976=)
c.3547C= (p.Leu1183=)
c.1741C= (p.Leu581=)
2g.237371870G>TCA351196797COL6A3c.3529C>A (p.Leu1177Met)
c.4147C>A (p.Leu1383Met)
c.2326C>A (p.Leu776Met)
c.2926C>A (p.Leu976Met)
c.3547C>A (p.Leu1183Met)
c.1741C>A (p.Leu581Met)
2g.237371871C>ACA431711238COL6A3c.3528G>T (p.Ser1176=)
c.4146G>T (p.Ser1382=)
c.2325G>T (p.Ser775=)
c.2925G>T (p.Ser975=)
c.3546G>T (p.Ser1182=)
c.1740G>T (p.Ser580=)
 ClinVar dbSNP gnomAD v4
2g.237371871C=CA1337623195COL6A3c.3528G= (p.Ser1176=)
c.4146G= (p.Ser1382=)
c.2325G= (p.Ser775=)
c.2925G= (p.Ser975=)
c.3546G= (p.Ser1182=)
c.1740G= (p.Ser580=)
2g.237371871C>GCA431711239COL6A3c.3528G>C (p.Ser1176=)
c.4146G>C (p.Ser1382=)
c.2325G>C (p.Ser775=)
c.2925G>C (p.Ser975=)
c.3546G>C (p.Ser1182=)
c.1740G>C (p.Ser580=)
2g.237371871C>TCA2188985COL6A3c.3528G>A (p.Ser1176=)
c.4146G>A (p.Ser1382=)
c.2325G>A (p.Ser775=)
c.2925G>A (p.Ser975=)
c.3546G>A (p.Ser1182=)
c.1740G>A (p.Ser580=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371872G>ACA2188986COL6A3c.3527C>T (p.Ser1176Leu)
c.4145C>T (p.Ser1382Leu)
c.2324C>T (p.Ser775Leu)
c.2924C>T (p.Ser975Leu)
c.3545C>T (p.Ser1182Leu)
c.1739C>T (p.Ser580Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371872G>CCA351196802COL6A3c.3527C>G (p.Ser1176Trp)
c.4145C>G (p.Ser1382Trp)
c.2324C>G (p.Ser775Trp)
c.2924C>G (p.Ser975Trp)
c.3545C>G (p.Ser1182Trp)
c.1739C>G (p.Ser580Trp)
2g.237371872G=CA1337623196COL6A3c.3527C= (p.Ser1176=)
c.4145C= (p.Ser1382=)
c.2324C= (p.Ser775=)
c.2924C= (p.Ser975=)
c.3545C= (p.Ser1182=)
c.1739C= (p.Ser580=)
2g.237371872G>TCA351196800COL6A3c.3527C>A (p.Ser1176Ter)
c.4145C>A (p.Ser1382Ter)
c.2324C>A (p.Ser775Ter)
c.2924C>A (p.Ser975Ter)
c.3545C>A (p.Ser1182Ter)
c.1739C>A (p.Ser580Ter)
2g.237371873A>CCA351196805COL6A3c.3526T>G (p.Ser1176Ala)
c.4144T>G (p.Ser1382Ala)
c.2323T>G (p.Ser775Ala)
c.2923T>G (p.Ser975Ala)
c.3544T>G (p.Ser1182Ala)
c.1738T>G (p.Ser580Ala)
2g.237371873A>GCA351196807COL6A3c.3526T>C (p.Ser1176Pro)
c.4144T>C (p.Ser1382Pro)
c.2323T>C (p.Ser775Pro)
c.2923T>C (p.Ser975Pro)
c.3544T>C (p.Ser1182Pro)
c.1738T>C (p.Ser580Pro)
2g.237371873A>TCA351196810COL6A3c.3526T>A (p.Ser1176Thr)
c.4144T>A (p.Ser1382Thr)
c.2323T>A (p.Ser775Thr)
c.2923T>A (p.Ser975Thr)
c.3544T>A (p.Ser1182Thr)
c.1738T>A (p.Ser580Thr)
2g.237371874G>ACA67818765COL6A3c.3525C>T (p.Ile1175=)
c.4143C>T (p.Ile1381=)
c.2322C>T (p.Ile774=)
c.2922C>T (p.Ile974=)
c.3543C>T (p.Ile1181=)
c.1737C>T (p.Ile579=)
 dbSNP
2g.237371874G>CCA351196812COL6A3c.3525C>G (p.Ile1175Met)
c.4143C>G (p.Ile1381Met)
c.2322C>G (p.Ile774Met)
c.2922C>G (p.Ile974Met)
c.3543C>G (p.Ile1181Met)
c.1737C>G (p.Ile579Met)
2g.237371874G=CA1337623197COL6A3c.3525C= (p.Ile1175=)
c.4143C= (p.Ile1381=)
c.2322C= (p.Ile774=)
c.2922C= (p.Ile974=)
c.3543C= (p.Ile1181=)
c.1737C= (p.Ile579=)
2g.237371874G>TCA431711243COL6A3c.3525C>A (p.Ile1175=)
c.4143C>A (p.Ile1381=)
c.2322C>A (p.Ile774=)
c.2922C>A (p.Ile974=)
c.3543C>A (p.Ile1181=)
c.1737C>A (p.Ile579=)
2g.237371875A>CCA351196814COL6A3c.3524T>G (p.Ile1175Ser)
c.4142T>G (p.Ile1381Ser)
c.2321T>G (p.Ile774Ser)
c.2921T>G (p.Ile974Ser)
c.3542T>G (p.Ile1181Ser)
c.1736T>G (p.Ile579Ser)
2g.237371875A>GCA351196816COL6A3c.3524T>C (p.Ile1175Thr)
c.4142T>C (p.Ile1381Thr)
c.2321T>C (p.Ile774Thr)
c.2921T>C (p.Ile974Thr)
c.3542T>C (p.Ile1181Thr)
c.1736T>C (p.Ile579Thr)
2g.237371875A>TCA351196818COL6A3c.3524T>A (p.Ile1175Asn)
c.4142T>A (p.Ile1381Asn)
c.2321T>A (p.Ile774Asn)
c.2921T>A (p.Ile974Asn)
c.3542T>A (p.Ile1181Asn)
c.1736T>A (p.Ile579Asn)
2g.237371876T>ACA2188987COL6A3c.3523A>T (p.Ile1175Phe)
c.4141A>T (p.Ile1381Phe)
c.2320A>T (p.Ile774Phe)
c.2920A>T (p.Ile974Phe)
c.3541A>T (p.Ile1181Phe)
c.1735A>T (p.Ile579Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371876T>CCA351196820COL6A3c.3523A>G (p.Ile1175Val)
c.4141A>G (p.Ile1381Val)
c.2320A>G (p.Ile774Val)
c.2920A>G (p.Ile974Val)
c.3541A>G (p.Ile1181Val)
c.1735A>G (p.Ile579Val)
2g.237371876T>GCA351196822COL6A3c.3523A>C (p.Ile1175Leu)
c.4141A>C (p.Ile1381Leu)
c.2320A>C (p.Ile774Leu)
c.2920A>C (p.Ile974Leu)
c.3541A>C (p.Ile1181Leu)
c.1735A>C (p.Ile579Leu)
2g.237371876T=CA1337623198COL6A3c.3523A= (p.Ile1175=)
c.4141A= (p.Ile1381=)
c.2320A= (p.Ile774=)
c.2920A= (p.Ile974=)
c.3541A= (p.Ile1181=)
c.1735A= (p.Ile579=)
2g.237371877C>ACA351196826COL6A3c.3522G>T (p.Lys1174Asn)
c.4140G>T (p.Lys1380Asn)
c.2319G>T (p.Lys773Asn)
c.2919G>T (p.Lys973Asn)
c.3540G>T (p.Lys1180Asn)
c.1734G>T (p.Lys578Asn)
2g.237371877C>GCA351196827COL6A3c.3522G>C (p.Lys1174Asn)
c.4140G>C (p.Lys1380Asn)
c.2319G>C (p.Lys773Asn)
c.2919G>C (p.Lys973Asn)
c.3540G>C (p.Lys1180Asn)
c.1734G>C (p.Lys578Asn)
2g.237371877C>TCA431711245COL6A3c.3522G>A (p.Lys1174=)
c.4140G>A (p.Lys1380=)
c.2319G>A (p.Lys773=)
c.2919G>A (p.Lys973=)
c.3540G>A (p.Lys1180=)
c.1734G>A (p.Lys578=)
2g.237371878T>ACA351196834COL6A3c.3521A>T (p.Lys1174Met)
c.4139A>T (p.Lys1380Met)
c.2318A>T (p.Lys773Met)
c.2918A>T (p.Lys973Met)
c.3539A>T (p.Lys1180Met)
c.1733A>T (p.Lys578Met)
2g.237371878T>CCA351196832COL6A3c.3521A>G (p.Lys1174Arg)
c.4139A>G (p.Lys1380Arg)
c.2318A>G (p.Lys773Arg)
c.2918A>G (p.Lys973Arg)
c.3539A>G (p.Lys1180Arg)
c.1733A>G (p.Lys578Arg)
2g.237371878T>GCA351196830COL6A3c.3521A>C (p.Lys1174Thr)
c.4139A>C (p.Lys1380Thr)
c.2318A>C (p.Lys773Thr)
c.2918A>C (p.Lys973Thr)
c.3539A>C (p.Lys1180Thr)
c.1733A>C (p.Lys578Thr)
2g.237371879T>ACA351196836COL6A3c.3520A>T (p.Lys1174Ter)
c.4138A>T (p.Lys1380Ter)
c.2317A>T (p.Lys773Ter)
c.2917A>T (p.Lys973Ter)
c.3538A>T (p.Lys1180Ter)
c.1732A>T (p.Lys578Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371879T>CCA351196838COL6A3c.3520A>G (p.Lys1174Glu)
c.4138A>G (p.Lys1380Glu)
c.2317A>G (p.Lys773Glu)
c.2917A>G (p.Lys973Glu)
c.3538A>G (p.Lys1180Glu)
c.1732A>G (p.Lys578Glu)
 gnomAD v4
2g.237371879T>GCA351196841COL6A3c.3520A>C (p.Lys1174Gln)
c.4138A>C (p.Lys1380Gln)
c.2317A>C (p.Lys773Gln)
c.2917A>C (p.Lys973Gln)
c.3538A>C (p.Lys1180Gln)
c.1732A>C (p.Lys578Gln)
2g.237371879T=CA1337623199COL6A3c.3520A= (p.Lys1174=)
c.4138A= (p.Lys1380=)
c.2317A= (p.Lys773=)
c.2917A= (p.Lys973=)
c.3538A= (p.Lys1180=)
c.1732A= (p.Lys578=)
2g.237371880C>ACA431711246COL6A3c.3519G>T (p.Val1173=)
c.4137G>T (p.Val1379=)
c.2316G>T (p.Val772=)
c.2916G>T (p.Val972=)
c.3537G>T (p.Val1179=)
c.1731G>T (p.Val577=)
2g.237371880C=CA1337623200COL6A3c.3519G= (p.Val1173=)
c.4137G= (p.Val1379=)
c.2316G= (p.Val772=)
c.2916G= (p.Val972=)
c.3537G= (p.Val1179=)
c.1731G= (p.Val577=)
2g.237371880C>GCA431711247COL6A3c.3519G>C (p.Val1173=)
c.4137G>C (p.Val1379=)
c.2316G>C (p.Val772=)
c.2916G>C (p.Val972=)
c.3537G>C (p.Val1179=)
c.1731G>C (p.Val577=)
2g.237371880C>TCA431711248COL6A3c.3519G>A (p.Val1173=)
c.4137G>A (p.Val1379=)
c.2316G>A (p.Val772=)
c.2916G>A (p.Val972=)
c.3537G>A (p.Val1179=)
c.1731G>A (p.Val577=)
 dbSNP gnomAD v4
2g.237371881A>CCA351196843COL6A3c.3518T>G (p.Val1173Gly)
c.4136T>G (p.Val1379Gly)
c.2315T>G (p.Val772Gly)
c.2915T>G (p.Val972Gly)
c.3536T>G (p.Val1179Gly)
c.1730T>G (p.Val577Gly)
2g.237371881A>GCA351196845COL6A3c.3518T>C (p.Val1173Ala)
c.4136T>C (p.Val1379Ala)
c.2315T>C (p.Val772Ala)
c.2915T>C (p.Val972Ala)
c.3536T>C (p.Val1179Ala)
c.1730T>C (p.Val577Ala)
2g.237371881A>TCA351196847COL6A3c.3518T>A (p.Val1173Glu)
c.4136T>A (p.Val1379Glu)
c.2315T>A (p.Val772Glu)
c.2915T>A (p.Val972Glu)
c.3536T>A (p.Val1179Glu)
c.1730T>A (p.Val577Glu)
2g.237371882C>ACA351196849COL6A3c.3517G>T (p.Val1173Leu)
c.4135G>T (p.Val1379Leu)
c.2314G>T (p.Val772Leu)
c.2914G>T (p.Val972Leu)
c.3535G>T (p.Val1179Leu)
c.1729G>T (p.Val577Leu)
2g.237371882C=CA1337623201COL6A3c.3517G= (p.Val1173=)
c.4135G= (p.Val1379=)
c.2314G= (p.Val772=)
c.2914G= (p.Val972=)
c.3535G= (p.Val1179=)
c.1729G= (p.Val577=)
2g.237371882C>GCA351196851COL6A3c.3517G>C (p.Val1173Leu)
c.4135G>C (p.Val1379Leu)
c.2314G>C (p.Val772Leu)
c.2914G>C (p.Val972Leu)
c.3535G>C (p.Val1179Leu)
c.1729G>C (p.Val577Leu)
2g.237371882C>TCA351196852COL6A3c.3517G>A (p.Val1173Met)
c.4135G>A (p.Val1379Met)
c.2314G>A (p.Val772Met)
c.2914G>A (p.Val972Met)
c.3535G>A (p.Val1179Met)
c.1729G>A (p.Val577Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371883C>ACA2188988COL6A3c.3516G>T (p.Leu1172=)
c.4134G>T (p.Leu1378=)
c.2313G>T (p.Leu771=)
c.2913G>T (p.Leu971=)
c.3534G>T (p.Leu1178=)
c.1728G>T (p.Leu576=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371883C=CA1337623202COL6A3c.3516G= (p.Leu1172=)
c.4134G= (p.Leu1378=)
c.2313G= (p.Leu771=)
c.2913G= (p.Leu971=)
c.3534G= (p.Leu1178=)
c.1728G= (p.Leu576=)
2g.237371883C>GCA431711250COL6A3c.3516G>C (p.Leu1172=)
c.4134G>C (p.Leu1378=)
c.2313G>C (p.Leu771=)
c.2913G>C (p.Leu971=)
c.3534G>C (p.Leu1178=)
c.1728G>C (p.Leu576=)
2g.237371883C>TCA431711251COL6A3c.3516G>A (p.Leu1172=)
c.4134G>A (p.Leu1378=)
c.2313G>A (p.Leu771=)
c.2913G>A (p.Leu971=)
c.3534G>A (p.Leu1178=)
c.1728G>A (p.Leu576=)
2g.237371884A>CCA351196854COL6A3c.3515T>G (p.Leu1172Arg)
c.4133T>G (p.Leu1378Arg)
c.2312T>G (p.Leu771Arg)
c.2912T>G (p.Leu971Arg)
c.3533T>G (p.Leu1178Arg)
c.1727T>G (p.Leu576Arg)
2g.237371884A>GCA351196856COL6A3c.3515T>C (p.Leu1172Pro)
c.4133T>C (p.Leu1378Pro)
c.2312T>C (p.Leu771Pro)
c.2912T>C (p.Leu971Pro)
c.3533T>C (p.Leu1178Pro)
c.1727T>C (p.Leu576Pro)
2g.237371884A>TCA351196858COL6A3c.3515T>A (p.Leu1172Gln)
c.4133T>A (p.Leu1378Gln)
c.2312T>A (p.Leu771Gln)
c.2912T>A (p.Leu971Gln)
c.3533T>A (p.Leu1178Gln)
c.1727T>A (p.Leu576Gln)
2g.237371885G>ACA431711252COL6A3c.3514C>T (p.Leu1172=)
c.4132C>T (p.Leu1378=)
c.2311C>T (p.Leu771=)
c.2911C>T (p.Leu971=)
c.3532C>T (p.Leu1178=)
c.1726C>T (p.Leu576=)
 gnomAD v4 COSMIC COSMIC
2g.237371885G>CCA351196865COL6A3c.3514C>G (p.Leu1172Val)
c.4132C>G (p.Leu1378Val)
c.2311C>G (p.Leu771Val)
c.2911C>G (p.Leu971Val)
c.3532C>G (p.Leu1178Val)
c.1726C>G (p.Leu576Val)
2g.237371885G>TCA351196861COL6A3c.3514C>A (p.Leu1172Met)
c.4132C>A (p.Leu1378Met)
c.2311C>A (p.Leu771Met)
c.2911C>A (p.Leu971Met)
c.3532C>A (p.Leu1178Met)
c.1726C>A (p.Leu576Met)
2g.237371886C>ACA351196868COL6A3c.3513G>T (p.Glu1171Asp)
c.4131G>T (p.Glu1377Asp)
c.2310G>T (p.Glu770Asp)
c.2910G>T (p.Glu970Asp)
c.3531G>T (p.Glu1177Asp)
c.1725G>T (p.Glu575Asp)
2g.237371886C=CA1337623203COL6A3c.3513G= (p.Glu1171=)
c.4131G= (p.Glu1377=)
c.2310G= (p.Glu770=)
c.2910G= (p.Glu970=)
c.3531G= (p.Glu1177=)
c.1725G= (p.Glu575=)
2g.237371886C>GCA351196870COL6A3c.3513G>C (p.Glu1171Asp)
c.4131G>C (p.Glu1377Asp)
c.2310G>C (p.Glu770Asp)
c.2910G>C (p.Glu970Asp)
c.3531G>C (p.Glu1177Asp)
c.1725G>C (p.Glu575Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.237371886C>TCA431711254COL6A3c.3513G>A (p.Glu1171=)
c.4131G>A (p.Glu1377=)
c.2310G>A (p.Glu770=)
c.2910G>A (p.Glu970=)
c.3531G>A (p.Glu1177=)
c.1725G>A (p.Glu575=)
2g.237371887T>ACA351196873COL6A3c.3512A>T (p.Glu1171Val)
c.4130A>T (p.Glu1377Val)
c.2309A>T (p.Glu770Val)
c.2909A>T (p.Glu970Val)
c.3530A>T (p.Glu1177Val)
c.1724A>T (p.Glu575Val)
 dbSNP gnomAD v2 gnomAD v4
2g.237371887T>CCA351196874COL6A3c.3512A>G (p.Glu1171Gly)
c.4130A>G (p.Glu1377Gly)
c.2309A>G (p.Glu770Gly)
c.2909A>G (p.Glu970Gly)
c.3530A>G (p.Glu1177Gly)
c.1724A>G (p.Glu575Gly)
2g.237371887T>GCA351196876COL6A3c.3512A>C (p.Glu1171Ala)
c.4130A>C (p.Glu1377Ala)
c.2309A>C (p.Glu770Ala)
c.2909A>C (p.Glu970Ala)
c.3530A>C (p.Glu1177Ala)
c.1724A>C (p.Glu575Ala)
2g.237371887T=CA1337623204COL6A3c.3512A= (p.Glu1171=)
c.4130A= (p.Glu1377=)
c.2309A= (p.Glu770=)
c.2909A= (p.Glu970=)
c.3530A= (p.Glu1177=)
c.1724A= (p.Glu575=)
2g.237371888C>ACA351196879COL6A3c.3511G>T (p.Glu1171Ter)
c.4129G>T (p.Glu1377Ter)
c.2308G>T (p.Glu770Ter)
c.2908G>T (p.Glu970Ter)
c.3529G>T (p.Glu1177Ter)
c.1723G>T (p.Glu575Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237371888C=CA1337623205COL6A3c.3511G= (p.Glu1171=)
c.4129G= (p.Glu1377=)
c.2308G= (p.Glu770=)
c.2908G= (p.Glu970=)
c.3529G= (p.Glu1177=)
c.1723G= (p.Glu575=)
2g.237371888C>GCA351196881COL6A3c.3511G>C (p.Glu1171Gln)
c.4129G>C (p.Glu1377Gln)
c.2308G>C (p.Glu770Gln)
c.2908G>C (p.Glu970Gln)
c.3529G>C (p.Glu1177Gln)
c.1723G>C (p.Glu575Gln)
2g.237371888C>TCA351196883COL6A3c.3511G>A (p.Glu1171Lys)
c.4129G>A (p.Glu1377Lys)
c.2308G>A (p.Glu770Lys)
c.2908G>A (p.Glu970Lys)
c.3529G>A (p.Glu1177Lys)
c.1723G>A (p.Glu575Lys)
 COSMIC COSMIC
2g.237371889C>ACA351196886COL6A3c.3510G>T (p.Glu1170Asp)
c.4128G>T (p.Glu1376Asp)
c.2307G>T (p.Glu769Asp)
c.2907G>T (p.Glu969Asp)
c.3528G>T (p.Glu1176Asp)
c.1722G>T (p.Glu574Asp)
2g.237371889C=CA1337623206COL6A3c.3510G= (p.Glu1170=)
c.4128G= (p.Glu1376=)
c.2307G= (p.Glu769=)
c.2907G= (p.Glu969=)
c.3528G= (p.Glu1176=)
c.1722G= (p.Glu574=)
2g.237371889C>GCA351196888COL6A3c.3510G>C (p.Glu1170Asp)
c.4128G>C (p.Glu1376Asp)
c.2307G>C (p.Glu769Asp)
c.2907G>C (p.Glu969Asp)
c.3528G>C (p.Glu1176Asp)
c.1722G>C (p.Glu574Asp)
2g.237371889C>TCA431711257COL6A3c.3510G>A (p.Glu1170=)
c.4128G>A (p.Glu1376=)
c.2307G>A (p.Glu769=)
c.2907G>A (p.Glu969=)
c.3528G>A (p.Glu1176=)
c.1722G>A (p.Glu574=)
 dbSNP gnomAD v3 gnomAD v4
2g.237371890T>ACA351196889COL6A3c.3509A>T (p.Glu1170Val)
c.4127A>T (p.Glu1376Val)
c.2306A>T (p.Glu769Val)
c.2906A>T (p.Glu969Val)
c.3527A>T (p.Glu1176Val)
c.1721A>T (p.Glu574Val)
 gnomAD v4
2g.237371890T>CCA351196890COL6A3c.3509A>G (p.Glu1170Gly)
c.4127A>G (p.Glu1376Gly)
c.2306A>G (p.Glu769Gly)
c.2906A>G (p.Glu969Gly)
c.3527A>G (p.Glu1176Gly)
c.1721A>G (p.Glu574Gly)
2g.237371890T>GCA351196891COL6A3c.3509A>C (p.Glu1170Ala)
c.4127A>C (p.Glu1376Ala)
c.2306A>C (p.Glu769Ala)
c.2906A>C (p.Glu969Ala)
c.3527A>C (p.Glu1176Ala)
c.1721A>C (p.Glu574Ala)
2g.237371891C>ACA351196895COL6A3c.3508G>T (p.Glu1170Ter)
c.4126G>T (p.Glu1376Ter)
c.2305G>T (p.Glu769Ter)
c.2905G>T (p.Glu969Ter)
c.3526G>T (p.Glu1176Ter)
c.1720G>T (p.Glu574Ter)
2g.237371891C>GCA351196897COL6A3c.3508G>C (p.Glu1170Gln)
c.4126G>C (p.Glu1376Gln)
c.2305G>C (p.Glu769Gln)
c.2905G>C (p.Glu969Gln)
c.3526G>C (p.Glu1176Gln)
c.1720G>C (p.Glu574Gln)
2g.237371891C>TCA351196894COL6A3c.3508G>A (p.Glu1170Lys)
c.4126G>A (p.Glu1376Lys)
c.2305G>A (p.Glu769Lys)
c.2905G>A (p.Glu969Lys)
c.3526G>A (p.Glu1176Lys)
c.1720G>A (p.Glu574Lys)
 gnomAD v4
2g.237371892C>ACA351196899COL6A3c.3507G>T (p.Gln1169His)
c.4125G>T (p.Gln1375His)
c.2304G>T (p.Gln768His)
c.2904G>T (p.Gln968His)
c.3525G>T (p.Gln1175His)
c.1719G>T (p.Gln573His)
 dbSNP
2g.237371892C=CA1337623207COL6A3c.3507G= (p.Gln1169=)
c.4125G= (p.Gln1375=)
c.2304G= (p.Gln768=)
c.2904G= (p.Gln968=)
c.3525G= (p.Gln1175=)
c.1719G= (p.Gln573=)
2g.237371892C>GCA351196898COL6A3c.3507G>C (p.Gln1169His)
c.4125G>C (p.Gln1375His)
c.2304G>C (p.Gln768His)
c.2904G>C (p.Gln968His)
c.3525G>C (p.Gln1175His)
c.1719G>C (p.Gln573His)
2g.237371892C>TCA431711261COL6A3c.3507G>A (p.Gln1169=)
c.4125G>A (p.Gln1375=)
c.2304G>A (p.Gln768=)
c.2904G>A (p.Gln968=)
c.3525G>A (p.Gln1175=)
c.1719G>A (p.Gln573=)
2g.237371892_237371893delinsCTCA1337623208COL6A3c.3506_3507delinsAG (p.Gln1169=)
c.4124_4125delinsAG (p.Gln1375=)
c.2303_2304delinsAG (p.Gln768=)
c.2903_2904delinsAG (p.Gln968=)
c.3524_3525delinsAG (p.Gln1175=)
c.1718_1719delinsAG (p.Gln573=)
2g.237371893delCA10604256COL6A3c.3506del (p.Gln1169ArgfsTer5)
c.4124del (p.Gln1375ArgfsTer5)
c.2303del (p.Gln768ArgfsTer5)
c.2903del (p.Gln968ArgfsTer5)
c.3524del (p.Gln1175ArgfsTer5)
c.1718del (p.Gln573ArgfsTer5)
 ClinVar dbSNP
2g.237371893T>ACA351196902COL6A3c.3506A>T (p.Gln1169Leu)
c.4124A>T (p.Gln1375Leu)
c.2303A>T (p.Gln768Leu)
c.2903A>T (p.Gln968Leu)
c.3524A>T (p.Gln1175Leu)
c.1718A>T (p.Gln573Leu)
2g.237371893T>CCA351196904COL6A3c.3506A>G (p.Gln1169Arg)
c.4124A>G (p.Gln1375Arg)
c.2303A>G (p.Gln768Arg)
c.2903A>G (p.Gln968Arg)
c.3524A>G (p.Gln1175Arg)
c.1718A>G (p.Gln573Arg)
 dbSNP
2g.237371893T>GCA351196905COL6A3c.3506A>C (p.Gln1169Pro)
c.4124A>C (p.Gln1375Pro)
c.2303A>C (p.Gln768Pro)
c.2903A>C (p.Gln968Pro)
c.3524A>C (p.Gln1175Pro)
c.1718A>C (p.Gln573Pro)
2g.237371893T=CA1337623209COL6A3c.3506A= (p.Gln1169=)
c.4124A= (p.Gln1375=)
c.2303A= (p.Gln768=)
c.2903A= (p.Gln968=)
c.3524A= (p.Gln1175=)
c.1718A= (p.Gln573=)
2g.237371894G>ACA351196907COL6A3c.3505C>T (p.Gln1169Ter)
c.4123C>T (p.Gln1375Ter)
c.2302C>T (p.Gln768Ter)
c.2902C>T (p.Gln968Ter)
c.3523C>T (p.Gln1175Ter)
c.1717C>T (p.Gln573Ter)
2g.237371894G>CCA351196910COL6A3c.3505C>G (p.Gln1169Glu)
c.4123C>G (p.Gln1375Glu)
c.2302C>G (p.Gln768Glu)
c.2902C>G (p.Gln968Glu)
c.3523C>G (p.Gln1175Glu)
c.1717C>G (p.Gln573Glu)
2g.237371894G>TCA351196914COL6A3c.3505C>A (p.Gln1169Lys)
c.4123C>A (p.Gln1375Lys)
c.2302C>A (p.Gln768Lys)
c.2902C>A (p.Gln968Lys)
c.3523C>A (p.Gln1175Lys)
c.1717C>A (p.Gln573Lys)
2g.237371895G>ACA431711263COL6A3c.3504C>T (p.Asp1168=)
c.4122C>T (p.Asp1374=)
c.2301C>T (p.Asp767=)
c.2901C>T (p.Asp967=)
c.3522C>T (p.Asp1174=)
c.1716C>T (p.Asp572=)
 ClinVar dbSNP
2g.237371895G>CCA351196916COL6A3c.3504C>G (p.Asp1168Glu)
c.4122C>G (p.Asp1374Glu)
c.2301C>G (p.Asp767Glu)
c.2901C>G (p.Asp967Glu)
c.3522C>G (p.Asp1174Glu)
c.1716C>G (p.Asp572Glu)
2g.237371895G>TCA351196918COL6A3c.3504C>A (p.Asp1168Glu)
c.4122C>A (p.Asp1374Glu)
c.2301C>A (p.Asp767Glu)
c.2901C>A (p.Asp967Glu)
c.3522C>A (p.Asp1174Glu)
c.1716C>A (p.Asp572Glu)
2g.237371896T>ACA2188989COL6A3c.3503A>T (p.Asp1168Val)
c.4121A>T (p.Asp1374Val)
c.2300A>T (p.Asp767Val)
c.2900A>T (p.Asp967Val)
c.3521A>T (p.Asp1174Val)
c.1715A>T (p.Asp572Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371896T>CCA351196920COL6A3c.3503A>G (p.Asp1168Gly)
c.4121A>G (p.Asp1374Gly)
c.2300A>G (p.Asp767Gly)
c.2900A>G (p.Asp967Gly)
c.3521A>G (p.Asp1174Gly)
c.1715A>G (p.Asp572Gly)
2g.237371896T>GCA351196921COL6A3c.3503A>C (p.Asp1168Ala)
c.4121A>C (p.Asp1374Ala)
c.2300A>C (p.Asp767Ala)
c.2900A>C (p.Asp967Ala)
c.3521A>C (p.Asp1174Ala)
c.1715A>C (p.Asp572Ala)
2g.237371896T=CA1337623210COL6A3c.3503A= (p.Asp1168=)
c.4121A= (p.Asp1374=)
c.2300A= (p.Asp767=)
c.2900A= (p.Asp967=)
c.3521A= (p.Asp1174=)
c.1715A= (p.Asp572=)
2g.237371897C>ACA351196927COL6A3c.3502G>T (p.Asp1168Tyr)
c.4120G>T (p.Asp1374Tyr)
c.2299G>T (p.Asp767Tyr)
c.2899G>T (p.Asp967Tyr)
c.3520G>T (p.Asp1174Tyr)
c.1714G>T (p.Asp572Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.237371897C=CA1337623211COL6A3c.3502G= (p.Asp1168=)
c.4120G= (p.Asp1374=)
c.2299G= (p.Asp767=)
c.2899G= (p.Asp967=)
c.3520G= (p.Asp1174=)
c.1714G= (p.Asp572=)
2g.237371897C>GCA351196923COL6A3c.3502G>C (p.Asp1168His)
c.4120G>C (p.Asp1374His)
c.2299G>C (p.Asp767His)
c.2899G>C (p.Asp967His)
c.3520G>C (p.Asp1174His)
c.1714G>C (p.Asp572His)
2g.237371897C>TCA351196925COL6A3c.3502G>A (p.Asp1168Asn)
c.4120G>A (p.Asp1374Asn)
c.2299G>A (p.Asp767Asn)
c.2899G>A (p.Asp967Asn)
c.3520G>A (p.Asp1174Asn)
c.1714G>A (p.Asp572Asn)
2g.237371898T>ACA431711264COL6A3c.3501A>T (p.Ala1167=)
c.4119A>T (p.Ala1373=)
c.2298A>T (p.Ala766=)
c.2898A>T (p.Ala966=)
c.3519A>T (p.Ala1173=)
c.1713A>T (p.Ala571=)
2g.237371898T>CCA431711266COL6A3c.3501A>G (p.Ala1167=)
c.4119A>G (p.Ala1373=)
c.2298A>G (p.Ala766=)
c.2898A>G (p.Ala966=)
c.3519A>G (p.Ala1173=)
c.1713A>G (p.Ala571=)
2g.237371898T>GCA431711268COL6A3c.3501A>C (p.Ala1167=)
c.4119A>C (p.Ala1373=)
c.2298A>C (p.Ala766=)
c.2898A>C (p.Ala966=)
c.3519A>C (p.Ala1173=)
c.1713A>C (p.Ala571=)
2g.237371899G>ACA351196928COL6A3c.3500C>T (p.Ala1167Val)
c.4118C>T (p.Ala1373Val)
c.2297C>T (p.Ala766Val)
c.2897C>T (p.Ala966Val)
c.3518C>T (p.Ala1173Val)
c.1712C>T (p.Ala571Val)
2g.237371899G>CCA351196929COL6A3c.3500C>G (p.Ala1167Gly)
c.4118C>G (p.Ala1373Gly)
c.2297C>G (p.Ala766Gly)
c.2897C>G (p.Ala966Gly)
c.3518C>G (p.Ala1173Gly)
c.1712C>G (p.Ala571Gly)
 dbSNP
2g.237371899G=CA1337623212COL6A3c.3500C= (p.Ala1167=)
c.4118C= (p.Ala1373=)
c.2297C= (p.Ala766=)
c.2897C= (p.Ala966=)
c.3518C= (p.Ala1173=)
c.1712C= (p.Ala571=)
2g.237371899G>TCA351196930COL6A3c.3500C>A (p.Ala1167Glu)
c.4118C>A (p.Ala1373Glu)
c.2297C>A (p.Ala766Glu)
c.2897C>A (p.Ala966Glu)
c.3518C>A (p.Ala1173Glu)
c.1712C>A (p.Ala571Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.237371900C>ACA351196934COL6A3c.3499G>T (p.Ala1167Ser)
c.4117G>T (p.Ala1373Ser)
c.2296G>T (p.Ala766Ser)
c.2896G>T (p.Ala966Ser)
c.3517G>T (p.Ala1173Ser)
c.1711G>T (p.Ala571Ser)
2g.237371900C=CA1337623213COL6A3c.3499G= (p.Ala1167=)
c.4117G= (p.Ala1373=)
c.2296G= (p.Ala766=)
c.2896G= (p.Ala966=)
c.3517G= (p.Ala1173=)
c.1711G= (p.Ala571=)
2g.237371900C>GCA351196935COL6A3c.3499G>C (p.Ala1167Pro)
c.4117G>C (p.Ala1373Pro)
c.2296G>C (p.Ala766Pro)
c.2896G>C (p.Ala966Pro)
c.3517G>C (p.Ala1173Pro)
c.1711G>C (p.Ala571Pro)
 gnomAD v4
2g.237371900C>TCA248096COL6A3c.3499G>A (p.Ala1167Thr)
c.4117G>A (p.Ala1373Thr)
c.2296G>A (p.Ala766Thr)
c.2896G>A (p.Ala966Thr)
c.3517G>A (p.Ala1173Thr)
c.1711G>A (p.Ala571Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371901G>ACA16604419COL6A3c.3498C>T (p.Asn1166=)
c.4116C>T (p.Asn1372=)
c.2295C>T (p.Asn765=)
c.2895C>T (p.Asn965=)
c.3516C>T (p.Asn1172=)
c.1710C>T (p.Asn570=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371901G>CCA351196937COL6A3c.3498C>G (p.Asn1166Lys)
c.4116C>G (p.Asn1372Lys)
c.2295C>G (p.Asn765Lys)
c.2895C>G (p.Asn965Lys)
c.3516C>G (p.Asn1172Lys)
c.1710C>G (p.Asn570Lys)
2g.237371901G=CA1337623214COL6A3c.3498C= (p.Asn1166=)
c.4116C= (p.Asn1372=)
c.2295C= (p.Asn765=)
c.2895C= (p.Asn965=)
c.3516C= (p.Asn1172=)
c.1710C= (p.Asn570=)
2g.237371901G>TCA351196939COL6A3c.3498C>A (p.Asn1166Lys)
c.4116C>A (p.Asn1372Lys)
c.2295C>A (p.Asn765Lys)
c.2895C>A (p.Asn965Lys)
c.3516C>A (p.Asn1172Lys)
c.1710C>A (p.Asn570Lys)
2g.237371902T>ACA351196941COL6A3c.3497A>T (p.Asn1166Ile)
c.4115A>T (p.Asn1372Ile)
c.2294A>T (p.Asn765Ile)
c.2894A>T (p.Asn965Ile)
c.3515A>T (p.Asn1172Ile)
c.1709A>T (p.Asn570Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.237371902T>CCA351196943COL6A3c.3497A>G (p.Asn1166Ser)
c.4115A>G (p.Asn1372Ser)
c.2294A>G (p.Asn765Ser)
c.2894A>G (p.Asn965Ser)
c.3515A>G (p.Asn1172Ser)
c.1709A>G (p.Asn570Ser)
 gnomAD v4
2g.237371902T>GCA351196944COL6A3c.3497A>C (p.Asn1166Thr)
c.4115A>C (p.Asn1372Thr)
c.2294A>C (p.Asn765Thr)
c.2894A>C (p.Asn965Thr)
c.3515A>C (p.Asn1172Thr)
c.1709A>C (p.Asn570Thr)
2g.237371902T=CA1337623215COL6A3c.3497A= (p.Asn1166=)
c.4115A= (p.Asn1372=)
c.2294A= (p.Asn765=)
c.2894A= (p.Asn965=)
c.3515A= (p.Asn1172=)
c.1709A= (p.Asn570=)
2g.237371903T>ACA351196948COL6A3c.3496A>T (p.Asn1166Tyr)
c.4114A>T (p.Asn1372Tyr)
c.2293A>T (p.Asn765Tyr)
c.2893A>T (p.Asn965Tyr)
c.3514A>T (p.Asn1172Tyr)
c.1708A>T (p.Asn570Tyr)
2g.237371903T>CCA351196949COL6A3c.3496A>G (p.Asn1166Asp)
c.4114A>G (p.Asn1372Asp)
c.2293A>G (p.Asn765Asp)
c.2893A>G (p.Asn965Asp)
c.3514A>G (p.Asn1172Asp)
c.1708A>G (p.Asn570Asp)
 gnomAD v4
2g.237371903T>GCA351196947COL6A3c.3496A>C (p.Asn1166His)
c.4114A>C (p.Asn1372His)
c.2293A>C (p.Asn765His)
c.2893A>C (p.Asn965His)
c.3514A>C (p.Asn1172His)
c.1708A>C (p.Asn570His)
2g.237371904C>ACA351196951COL6A3c.3495G>T (p.Arg1165Ser)
c.4113G>T (p.Arg1371Ser)
c.2292G>T (p.Arg764Ser)
c.2892G>T (p.Arg964Ser)
c.3513G>T (p.Arg1171Ser)
c.1707G>T (p.Arg569Ser)
2g.237371904C=CA1337623216COL6A3c.3495G= (p.Arg1165=)
c.4113G= (p.Arg1371=)
c.2292G= (p.Arg764=)
c.2892G= (p.Arg964=)
c.3513G= (p.Arg1171=)
c.1707G= (p.Arg569=)
2g.237371904C>GCA351196953COL6A3c.3495G>C (p.Arg1165Ser)
c.4113G>C (p.Arg1371Ser)
c.2292G>C (p.Arg764Ser)
c.2892G>C (p.Arg964Ser)
c.3513G>C (p.Arg1171Ser)
c.1707G>C (p.Arg569Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237371904C>TCA431711271COL6A3c.3495G>A (p.Arg1165=)
c.4113G>A (p.Arg1371=)
c.2292G>A (p.Arg764=)
c.2892G>A (p.Arg964=)
c.3513G>A (p.Arg1171=)
c.1707G>A (p.Arg569=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237371905C>ACA351196955COL6A3c.3494G>T (p.Arg1165Met)
c.4112G>T (p.Arg1371Met)
c.2291G>T (p.Arg764Met)
c.2891G>T (p.Arg964Met)
c.3512G>T (p.Arg1171Met)
c.1706G>T (p.Arg569Met)
2g.237371905C=CA1337623217COL6A3c.3494G= (p.Arg1165=)
c.4112G= (p.Arg1371=)
c.2291G= (p.Arg764=)
c.2891G= (p.Arg964=)
c.3512G= (p.Arg1171=)
c.1706G= (p.Arg569=)
2g.237371905C>GCA351196957COL6A3c.3494G>C (p.Arg1165Thr)
c.4112G>C (p.Arg1371Thr)
c.2291G>C (p.Arg764Thr)
c.2891G>C (p.Arg964Thr)
c.3512G>C (p.Arg1171Thr)
c.1706G>C (p.Arg569Thr)
2g.237371905C>TCA351196958COL6A3c.3494G>A (p.Arg1165Lys)
c.4112G>A (p.Arg1371Lys)
c.2291G>A (p.Arg764Lys)
c.2891G>A (p.Arg964Lys)
c.3512G>A (p.Arg1171Lys)
c.1706G>A (p.Arg569Lys)
 dbSNP gnomAD v4
2g.237371906T>ACA351196959COL6A3c.3493A>T (p.Arg1165Trp)
c.4111A>T (p.Arg1371Trp)
c.2290A>T (p.Arg764Trp)
c.2890A>T (p.Arg964Trp)
c.3511A>T (p.Arg1171Trp)
c.1705A>T (p.Arg569Trp)
2g.237371906T>CCA351196961COL6A3c.3493A>G (p.Arg1165Gly)
c.4111A>G (p.Arg1371Gly)
c.2290A>G (p.Arg764Gly)
c.2890A>G (p.Arg964Gly)
c.3511A>G (p.Arg1171Gly)
c.1705A>G (p.Arg569Gly)
2g.237371906T>GCA431711272COL6A3c.3493A>C (p.Arg1165=)
c.4111A>C (p.Arg1371=)
c.2290A>C (p.Arg764=)
c.2890A>C (p.Arg964=)
c.3511A>C (p.Arg1171=)
c.1705A>C (p.Arg569=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371906T=CA1337623218COL6A3c.3493A= (p.Arg1165=)
c.4111A= (p.Arg1371=)
c.2290A= (p.Arg764=)
c.2890A= (p.Arg964=)
c.3511A= (p.Arg1171=)
c.1705A= (p.Arg569=)
2g.237371907G>ACA431711274COL6A3c.3492C>T (p.Ala1164=)
c.4110C>T (p.Ala1370=)
c.2289C>T (p.Ala763=)
c.2889C>T (p.Ala963=)
c.3510C>T (p.Ala1170=)
c.1704C>T (p.Ala568=)
 ClinVar dbSNP gnomAD v4
2g.237371907G>CCA431711276COL6A3c.3492C>G (p.Ala1164=)
c.4110C>G (p.Ala1370=)
c.2289C>G (p.Ala763=)
c.2889C>G (p.Ala963=)
c.3510C>G (p.Ala1170=)
c.1704C>G (p.Ala568=)
2g.237371907G=CA1337623219COL6A3c.3492C= (p.Ala1164=)
c.4110C= (p.Ala1370=)
c.2289C= (p.Ala763=)
c.2889C= (p.Ala963=)
c.3510C= (p.Ala1170=)
c.1704C= (p.Ala568=)
2g.237371907G>TCA431711277COL6A3c.3492C>A (p.Ala1164=)
c.4110C>A (p.Ala1370=)
c.2289C>A (p.Ala763=)
c.2889C>A (p.Ala963=)
c.3510C>A (p.Ala1170=)
c.1704C>A (p.Ala568=)
2g.237371908G>ACA351196962COL6A3c.3491C>T (p.Ala1164Val)
c.4109C>T (p.Ala1370Val)
c.2288C>T (p.Ala763Val)
c.2888C>T (p.Ala963Val)
c.3509C>T (p.Ala1170Val)
c.1703C>T (p.Ala568Val)
 gnomAD v4
2g.237371908G>CCA351196972COL6A3c.3491C>G (p.Ala1164Gly)
c.4109C>G (p.Ala1370Gly)
c.2288C>G (p.Ala763Gly)
c.2888C>G (p.Ala963Gly)
c.3509C>G (p.Ala1170Gly)
c.1703C>G (p.Ala568Gly)
2g.237371908G>TCA351196964COL6A3c.3491C>A (p.Ala1164Asp)
c.4109C>A (p.Ala1370Asp)
c.2288C>A (p.Ala763Asp)
c.2888C>A (p.Ala963Asp)
c.3509C>A (p.Ala1170Asp)
c.1703C>A (p.Ala568Asp)
2g.237371909C>ACA2188990COL6A3c.3490G>T (p.Ala1164Ser)
c.4108G>T (p.Ala1370Ser)
c.2287G>T (p.Ala763Ser)
c.2887G>T (p.Ala963Ser)
c.3508G>T (p.Ala1170Ser)
c.1702G>T (p.Ala568Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371909C=CA1337623220COL6A3c.3490G= (p.Ala1164=)
c.4108G= (p.Ala1370=)
c.2287G= (p.Ala763=)
c.2887G= (p.Ala963=)
c.3508G= (p.Ala1170=)
c.1702G= (p.Ala568=)
2g.237371909C>GCA351196976COL6A3c.3490G>C (p.Ala1164Pro)
c.4108G>C (p.Ala1370Pro)
c.2287G>C (p.Ala763Pro)
c.2887G>C (p.Ala963Pro)
c.3508G>C (p.Ala1170Pro)
c.1702G>C (p.Ala568Pro)
2g.237371909C>TCA2188991COL6A3c.3490G>A (p.Ala1164Thr)
c.4108G>A (p.Ala1370Thr)
c.2287G>A (p.Ala763Thr)
c.2887G>A (p.Ala963Thr)
c.3508G>A (p.Ala1170Thr)
c.1702G>A (p.Ala568Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.237371910G>ACA147956COL6A3c.3489C>T (p.Ile1163=)
c.4107C>T (p.Ile1369=)
c.2286C>T (p.Ile762=)
c.2886C>T (p.Ile962=)
c.3507C>T (p.Ile1169=)
c.1701C>T (p.Ile567=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371910G>CCA2188992COL6A3c.3489C>G (p.Ile1163Met)
c.4107C>G (p.Ile1369Met)
c.2286C>G (p.Ile762Met)
c.2886C>G (p.Ile962Met)
c.3507C>G (p.Ile1169Met)
c.1701C>G (p.Ile567Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371910G=CA1337623221COL6A3c.3489C= (p.Ile1163=)
c.4107C= (p.Ile1369=)
c.2286C= (p.Ile762=)
c.2886C= (p.Ile962=)
c.3507C= (p.Ile1169=)
c.1701C= (p.Ile567=)
2g.237371910G>TCA431711278COL6A3c.3489C>A (p.Ile1163=)
c.4107C>A (p.Ile1369=)
c.2286C>A (p.Ile762=)
c.2886C>A (p.Ile962=)
c.3507C>A (p.Ile1169=)
c.1701C>A (p.Ile567=)
2g.237371911A>CCA351196982COL6A3c.3488T>G (p.Ile1163Ser)
c.4106T>G (p.Ile1369Ser)
c.2285T>G (p.Ile762Ser)
c.2885T>G (p.Ile962Ser)
c.3506T>G (p.Ile1169Ser)
c.1700T>G (p.Ile567Ser)
2g.237371911A>GCA351196986COL6A3c.3488T>C (p.Ile1163Thr)
c.4106T>C (p.Ile1369Thr)
c.2285T>C (p.Ile762Thr)
c.2885T>C (p.Ile962Thr)
c.3506T>C (p.Ile1169Thr)
c.1700T>C (p.Ile567Thr)
2g.237371911A>TCA351196984COL6A3c.3488T>A (p.Ile1163Asn)
c.4106T>A (p.Ile1369Asn)
c.2285T>A (p.Ile762Asn)
c.2885T>A (p.Ile962Asn)
c.3506T>A (p.Ile1169Asn)
c.1700T>A (p.Ile567Asn)

Number of alleles fetched