Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237381030C>ACA351216853COL6A3c.1164G>T (p.Glu388Asp)
c.1782G>T (p.Glu594Asp)
c.561G>T (p.Glu187Asp)
c.92-3686G>T (n.92-3686G>T)
2g.237381030C=CA1337627233COL6A3c.1164G= (p.Glu388=)
c.1782G= (p.Glu594=)
c.561G= (p.Glu187=)
c.92-3686G= (n.92-3686G=)
2g.237381030C>GCA351216856COL6A3c.1164G>C (p.Glu388Asp)
c.1782G>C (p.Glu594Asp)
c.561G>C (p.Glu187Asp)
c.92-3686G>C (n.92-3686G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237381030C>TCA431712506COL6A3c.1164G>A (p.Glu388=)
c.1782G>A (p.Glu594=)
c.561G>A (p.Glu187=)
c.92-3686G>A (n.92-3686G>A)
 gnomAD v4
2g.237381031T>ACA351216859COL6A3c.1163A>T (p.Glu388Val)
c.1781A>T (p.Glu594Val)
c.560A>T (p.Glu187Val)
c.92-3687A>T (n.92-3687A>T)
2g.237381031T>CCA351216860COL6A3c.1163A>G (p.Glu388Gly)
c.1781A>G (p.Glu594Gly)
c.560A>G (p.Glu187Gly)
c.92-3687A>G (n.92-3687A>G)
2g.237381031T>GCA351216861COL6A3c.1163A>C (p.Glu388Ala)
c.1781A>C (p.Glu594Ala)
c.560A>C (p.Glu187Ala)
c.92-3687A>C (n.92-3687A>C)
2g.237381032C>ACA351216863COL6A3c.1162G>T (p.Glu388Ter)
c.1780G>T (p.Glu594Ter)
c.559G>T (p.Glu187Ter)
c.92-3688G>T (n.92-3688G>T)
2g.237381032C=CA1337627234COL6A3c.1162G= (p.Glu388=)
c.1780G= (p.Glu594=)
c.559G= (p.Glu187=)
c.92-3688G= (n.92-3688G=)
2g.237381032C>GCA351216865COL6A3c.1162G>C (p.Glu388Gln)
c.1780G>C (p.Glu594Gln)
c.559G>C (p.Glu187Gln)
c.92-3688G>C (n.92-3688G>C)
2g.237381032C>TCA2189560COL6A3c.1162G>A (p.Glu388Lys)
c.1780G>A (p.Glu594Lys)
c.559G>A (p.Glu187Lys)
c.92-3688G>A (n.92-3688G>A)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237381033T>ACA351216866COL6A3c.1161A>T (p.Glu387Asp)
c.1779A>T (p.Glu593Asp)
c.558A>T (p.Glu186Asp)
c.92-3689A>T (n.92-3689A>T)
2g.237381033T>CCA431712508COL6A3c.1161A>G (p.Glu387=)
c.1779A>G (p.Glu593=)
c.558A>G (p.Glu186=)
c.92-3689A>G (n.92-3689A>G)
2g.237381033T>GCA351216867COL6A3c.1161A>C (p.Glu387Asp)
c.1779A>C (p.Glu593Asp)
c.558A>C (p.Glu186Asp)
c.92-3689A>C (n.92-3689A>C)
 gnomAD v4
2g.237381034T>ACA351216869COL6A3c.1160A>T (p.Glu387Val)
c.1778A>T (p.Glu593Val)
c.557A>T (p.Glu186Val)
c.92-3690A>T (n.92-3690A>T)
2g.237381034T>CCA351216880COL6A3c.1160A>G (p.Glu387Gly)
c.1778A>G (p.Glu593Gly)
c.557A>G (p.Glu186Gly)
c.92-3690A>G (n.92-3690A>G)
2g.237381034T>GCA351216879COL6A3c.1160A>C (p.Glu387Ala)
c.1778A>C (p.Glu593Ala)
c.557A>C (p.Glu186Ala)
c.92-3690A>C (n.92-3690A>C)
2g.237381035C>ACA351216883COL6A3c.1159G>T (p.Glu387Ter)
c.1777G>T (p.Glu593Ter)
c.556G>T (p.Glu186Ter)
c.92-3691G>T (n.92-3691G>T)
2g.237381035C>GCA351216886COL6A3c.1159G>C (p.Glu387Gln)
c.1777G>C (p.Glu593Gln)
c.556G>C (p.Glu186Gln)
c.92-3691G>C (n.92-3691G>C)
 gnomAD v4
2g.237381035C>TCA351216889COL6A3c.1159G>A (p.Glu387Lys)
c.1777G>A (p.Glu593Lys)
c.556G>A (p.Glu186Lys)
c.92-3691G>A (n.92-3691G>A)
 ClinVar COSMIC COSMIC
2g.237381036C>ACA431712511COL6A3c.1158G>T (p.Leu386=)
c.1776G>T (p.Leu592=)
c.555G>T (p.Leu185=)
c.92-3692G>T (n.92-3692G>T)
2g.237381036C=CA1337627235COL6A3c.1158G= (p.Leu386=)
c.1776G= (p.Leu592=)
c.555G= (p.Leu185=)
c.92-3692G= (n.92-3692G=)
2g.237381036C>GCA431712512COL6A3c.1158G>C (p.Leu386=)
c.1776G>C (p.Leu592=)
c.555G>C (p.Leu185=)
c.92-3692G>C (n.92-3692G>C)
2g.237381036C>TCA2189561COL6A3c.1158G>A (p.Leu386=)
c.1776G>A (p.Leu592=)
c.555G>A (p.Leu185=)
c.92-3692G>A (n.92-3692G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237381037A>CCA351216892COL6A3c.1157T>G (p.Leu386Arg)
c.1775T>G (p.Leu592Arg)
c.554T>G (p.Leu185Arg)
c.92-3693T>G (n.92-3693T>G)
2g.237381037A>GCA351216893COL6A3c.1157T>C (p.Leu386Pro)
c.1775T>C (p.Leu592Pro)
c.554T>C (p.Leu185Pro)
c.92-3693T>C (n.92-3693T>C)
2g.237381037A>TCA351216894COL6A3c.1157T>A (p.Leu386Gln)
c.1775T>A (p.Leu592Gln)
c.554T>A (p.Leu185Gln)
c.92-3693T>A (n.92-3693T>A)
2g.237381038G>ACA431712514COL6A3c.1156C>T (p.Leu386=)
c.1774C>T (p.Leu592=)
c.553C>T (p.Leu185=)
c.92-3694C>T (n.92-3694C>T)
 dbSNP gnomAD v4
2g.237381038G>CCA351216895COL6A3c.1156C>G (p.Leu386Val)
c.1774C>G (p.Leu592Val)
c.553C>G (p.Leu185Val)
c.92-3694C>G (n.92-3694C>G)
2g.237381038G=CA1337627236COL6A3c.1156C= (p.Leu386=)
c.1774C= (p.Leu592=)
c.553C= (p.Leu185=)
c.92-3694C= (n.92-3694C=)
2g.237381038G>TCA351216897COL6A3c.1156C>A (p.Leu386Met)
c.1774C>A (p.Leu592Met)
c.553C>A (p.Leu185Met)
c.92-3694C>A (n.92-3694C>A)
2g.237381039C>ACA351216898COL6A3c.1155G>T (p.Glu385Asp)
c.1773G>T (p.Glu591Asp)
c.552G>T (p.Glu184Asp)
c.92-3695G>T (n.92-3695G>T)
 gnomAD v4
2g.237381039C>GCA351216905COL6A3c.1155G>C (p.Glu385Asp)
c.1773G>C (p.Glu591Asp)
c.552G>C (p.Glu184Asp)
c.92-3695G>C (n.92-3695G>C)
2g.237381039C>TCA431712516COL6A3c.1155G>A (p.Glu385=)
c.1773G>A (p.Glu591=)
c.552G>A (p.Glu184=)
c.92-3695G>A (n.92-3695G>A)
2g.237381040T>ACA351216916COL6A3c.1154A>T (p.Glu385Val)
c.1772A>T (p.Glu591Val)
c.551A>T (p.Glu184Val)
c.92-3696A>T (n.92-3696A>T)
2g.237381040T>CCA351216912COL6A3c.1154A>G (p.Glu385Gly)
c.1772A>G (p.Glu591Gly)
c.551A>G (p.Glu184Gly)
c.92-3696A>G (n.92-3696A>G)
2g.237381040T>GCA351216907COL6A3c.1154A>C (p.Glu385Ala)
c.1772A>C (p.Glu591Ala)
c.551A>C (p.Glu184Ala)
c.92-3696A>C (n.92-3696A>C)
2g.237381041C>ACA351216932COL6A3c.1153G>T (p.Glu385Ter)
c.1771G>T (p.Glu591Ter)
c.550G>T (p.Glu184Ter)
c.92-3697G>T (n.92-3697G>T)
2g.237381041C>GCA351216933COL6A3c.1153G>C (p.Glu385Gln)
c.1771G>C (p.Glu591Gln)
c.550G>C (p.Glu184Gln)
c.92-3697G>C (n.92-3697G>C)
2g.237381041C>TCA351216935COL6A3c.1153G>A (p.Glu385Lys)
c.1771G>A (p.Glu591Lys)
c.550G>A (p.Glu184Lys)
c.92-3697G>A (n.92-3697G>A)
 COSMIC COSMIC
2g.237381042A=CA1337627237COL6A3c.1152T= (p.Ala384=)
c.1770T= (p.Ala590=)
c.549T= (p.Ala183=)
c.92-3698T= (n.92-3698T=)
2g.237381042A>CCA431712527COL6A3c.1152T>G (p.Ala384=)
c.1770T>G (p.Ala590=)
c.549T>G (p.Ala183=)
c.92-3698T>G (n.92-3698T>G)
2g.237381042A>GCA2189562COL6A3c.1152T>C (p.Ala384=)
c.1770T>C (p.Ala590=)
c.549T>C (p.Ala183=)
c.92-3698T>C (n.92-3698T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237381042A>TCA431712529COL6A3c.1152T>A (p.Ala384=)
c.1770T>A (p.Ala590=)
c.549T>A (p.Ala183=)
c.92-3698T>A (n.92-3698T>A)
2g.237381043G>ACA351216939COL6A3c.1151C>T (p.Ala384Val)
c.1769C>T (p.Ala590Val)
c.548C>T (p.Ala183Val)
c.92-3699C>T (n.92-3699C>T)
2g.237381043G>CCA351216940COL6A3c.1151C>G (p.Ala384Gly)
c.1769C>G (p.Ala590Gly)
c.548C>G (p.Ala183Gly)
c.92-3699C>G (n.92-3699C>G)
 gnomAD v4
2g.237381043G>TCA351216942COL6A3c.1151C>A (p.Ala384Asp)
c.1769C>A (p.Ala590Asp)
c.548C>A (p.Ala183Asp)
c.92-3699C>A (n.92-3699C>A)
2g.237381044C>ACA351216945COL6A3c.1150G>T (p.Ala384Ser)
c.1768G>T (p.Ala590Ser)
c.547G>T (p.Ala183Ser)
c.92-3700G>T (n.92-3700G>T)
2g.237381044C>GCA351216946COL6A3c.1150G>C (p.Ala384Pro)
c.1768G>C (p.Ala590Pro)
c.547G>C (p.Ala183Pro)
c.92-3700G>C (n.92-3700G>C)
2g.237381044C>TCA351216947COL6A3c.1150G>A (p.Ala384Thr)
c.1768G>A (p.Ala590Thr)
c.547G>A (p.Ala183Thr)
c.92-3700G>A (n.92-3700G>A)
2g.237381045C>ACA351216949COL6A3c.1149G>T (p.Gln383His)
c.1767G>T (p.Gln589His)
c.546G>T (p.Gln182His)
c.92-3701G>T (n.92-3701G>T)
2g.237381045C>GCA351216954COL6A3c.1149G>C (p.Gln383His)
c.1767G>C (p.Gln589His)
c.546G>C (p.Gln182His)
c.92-3701G>C (n.92-3701G>C)
2g.237381045C>TCA431712532COL6A3c.1149G>A (p.Gln383=)
c.1767G>A (p.Gln589=)
c.546G>A (p.Gln182=)
c.92-3701G>A (n.92-3701G>A)
 gnomAD v4 COSMIC COSMIC
2g.237381046T>ACA351216972COL6A3c.1148A>T (p.Gln383Leu)
c.1766A>T (p.Gln589Leu)
c.545A>T (p.Gln182Leu)
c.92-3702A>T (n.92-3702A>T)
2g.237381046T>CCA351216961COL6A3c.1148A>G (p.Gln383Arg)
c.1766A>G (p.Gln589Arg)
c.545A>G (p.Gln182Arg)
c.92-3702A>G (n.92-3702A>G)
2g.237381046T>GCA351216970COL6A3c.1148A>C (p.Gln383Pro)
c.1766A>C (p.Gln589Pro)
c.545A>C (p.Gln182Pro)
c.92-3702A>C (n.92-3702A>C)
2g.237381047G>ACA351216977COL6A3c.1147C>T (p.Gln383Ter)
c.1765C>T (p.Gln589Ter)
c.544C>T (p.Gln182Ter)
c.92-3703C>T (n.92-3703C>T)
2g.237381047G>CCA351216983COL6A3c.1147C>G (p.Gln383Glu)
c.1765C>G (p.Gln589Glu)
c.544C>G (p.Gln182Glu)
c.92-3703C>G (n.92-3703C>G)
2g.237381047G>TCA351216981COL6A3c.1147C>A (p.Gln383Lys)
c.1765C>A (p.Gln589Lys)
c.544C>A (p.Gln182Lys)
c.92-3703C>A (n.92-3703C>A)
2g.237381048A=CA1337627238COL6A3c.1146T= (p.Asp382=)
c.1764T= (p.Asp588=)
c.543T= (p.Asp181=)
c.92-3704T= (n.92-3704T=)
2g.237381048A>CCA351216985COL6A3c.1146T>G (p.Asp382Glu)
c.1764T>G (p.Asp588Glu)
c.543T>G (p.Asp181Glu)
c.92-3704T>G (n.92-3704T>G)
2g.237381048A>GCA67830383COL6A3c.1146T>C (p.Asp382=)
c.1764T>C (p.Asp588=)
c.543T>C (p.Asp181=)
c.92-3704T>C (n.92-3704T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237381048A>TCA351216988COL6A3c.1146T>A (p.Asp382Glu)
c.1764T>A (p.Asp588Glu)
c.543T>A (p.Asp181Glu)
c.92-3704T>A (n.92-3704T>A)
2g.237381049T>ACA351216993COL6A3c.1145A>T (p.Asp382Val)
c.1763A>T (p.Asp588Val)
c.542A>T (p.Asp181Val)
c.92-3705A>T (n.92-3705A>T)
2g.237381049T>CCA351216998COL6A3c.1145A>G (p.Asp382Gly)
c.1763A>G (p.Asp588Gly)
c.542A>G (p.Asp181Gly)
c.92-3705A>G (n.92-3705A>G)
 gnomAD v4
2g.237381049T>GCA351217006COL6A3c.1145A>C (p.Asp382Ala)
c.1763A>C (p.Asp588Ala)
c.542A>C (p.Asp181Ala)
c.92-3705A>C (n.92-3705A>C)
2g.237381050C>ACA351217012COL6A3c.1144G>T (p.Asp382Tyr)
c.1762G>T (p.Asp588Tyr)
c.541G>T (p.Asp181Tyr)
c.92-3706G>T (n.92-3706G>T)
 gnomAD v4
2g.237381050C=CA1337627239COL6A3c.1144G= (p.Asp382=)
c.1762G= (p.Asp588=)
c.541G= (p.Asp181=)
c.92-3706G= (n.92-3706G=)
2g.237381050C>GCA351217020COL6A3c.1144G>C (p.Asp382His)
c.1762G>C (p.Asp588His)
c.541G>C (p.Asp181His)
c.92-3706G>C (n.92-3706G>C)
 gnomAD v4
2g.237381050C>TCA10605485COL6A3c.1144G>A (p.Asp382Asn)
c.1762G>A (p.Asp588Asn)
c.541G>A (p.Asp181Asn)
c.92-3706G>A (n.92-3706G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237381051G>ACA246080COL6A3c.1143C>T (p.Ala381=)
c.1761C>T (p.Ala587=)
c.540C>T (p.Ala180=)
c.92-3707C>T (n.92-3707C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381051G>CCA431712537COL6A3c.1143C>G (p.Ala381=)
c.1761C>G (p.Ala587=)
c.540C>G (p.Ala180=)
c.92-3707C>G (n.92-3707C>G)
2g.237381051G=CA1337627240COL6A3c.1143C= (p.Ala381=)
c.1761C= (p.Ala587=)
c.540C= (p.Ala180=)
c.92-3707C= (n.92-3707C=)
2g.237381051G>TCA431712536COL6A3c.1143C>A (p.Ala381=)
c.1761C>A (p.Ala587=)
c.540C>A (p.Ala180=)
c.92-3707C>A (n.92-3707C>A)
 gnomAD v4
2g.237381052G>ACA351217028COL6A3c.1142C>T (p.Ala381Val)
c.1760C>T (p.Ala587Val)
c.539C>T (p.Ala180Val)
c.92-3708C>T (n.92-3708C>T)
2g.237381052G>CCA351217032COL6A3c.1142C>G (p.Ala381Gly)
c.1760C>G (p.Ala587Gly)
c.539C>G (p.Ala180Gly)
c.92-3708C>G (n.92-3708C>G)
 gnomAD v4
2g.237381052G>TCA351217041COL6A3c.1142C>A (p.Ala381Asp)
c.1760C>A (p.Ala587Asp)
c.539C>A (p.Ala180Asp)
c.92-3708C>A (n.92-3708C>A)
2g.237381053C>ACA351217044COL6A3c.1141G>T (p.Ala381Ser)
c.1759G>T (p.Ala587Ser)
c.538G>T (p.Ala180Ser)
c.92-3709G>T (n.92-3709G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237381053C=CA1337627241COL6A3c.1141G= (p.Ala381=)
c.1759G= (p.Ala587=)
c.538G= (p.Ala180=)
c.92-3709G= (n.92-3709G=)
2g.237381053C>GCA351217042COL6A3c.1141G>C (p.Ala381Pro)
c.1759G>C (p.Ala587Pro)
c.538G>C (p.Ala180Pro)
c.92-3709G>C (n.92-3709G>C)
2g.237381053C>TCA351217043COL6A3c.1141G>A (p.Ala381Thr)
c.1759G>A (p.Ala587Thr)
c.538G>A (p.Ala180Thr)
c.92-3709G>A (n.92-3709G>A)
 gnomAD v4
2g.237381054A>CCA431712540COL6A3c.1140T>G (p.Gly380=)
c.1758T>G (p.Gly586=)
c.537T>G (p.Gly179=)
c.92-3710T>G (n.92-3710T>G)
2g.237381054A>GCA431712538COL6A3c.1140T>C (p.Gly380=)
c.1758T>C (p.Gly586=)
c.537T>C (p.Gly179=)
c.92-3710T>C (n.92-3710T>C)
 gnomAD v4
2g.237381054A>TCA431712539COL6A3c.1140T>A (p.Gly380=)
c.1758T>A (p.Gly586=)
c.537T>A (p.Gly179=)
c.92-3710T>A (n.92-3710T>A)
2g.237381055C>ACA351217045COL6A3c.1139G>T (p.Gly380Val)
c.1757G>T (p.Gly586Val)
c.536G>T (p.Gly179Val)
c.92-3711G>T (n.92-3711G>T)
 gnomAD v4
2g.237381055C>GCA351217046COL6A3c.1139G>C (p.Gly380Ala)
c.1757G>C (p.Gly586Ala)
c.536G>C (p.Gly179Ala)
c.92-3711G>C (n.92-3711G>C)
2g.237381055C>TCA351217048COL6A3c.1139G>A (p.Gly380Asp)
c.1757G>A (p.Gly586Asp)
c.536G>A (p.Gly179Asp)
c.92-3711G>A (n.92-3711G>A)
2g.237381056C>ACA351217049COL6A3c.1138G>T (p.Gly380Cys)
c.1756G>T (p.Gly586Cys)
c.535G>T (p.Gly179Cys)
c.92-3712G>T (n.92-3712G>T)
2g.237381056C>GCA351217050COL6A3c.1138G>C (p.Gly380Arg)
c.1756G>C (p.Gly586Arg)
c.535G>C (p.Gly179Arg)
c.92-3712G>C (n.92-3712G>C)
 gnomAD v4
2g.237381056C>TCA351217051COL6A3c.1138G>A (p.Gly380Ser)
c.1756G>A (p.Gly586Ser)
c.535G>A (p.Gly179Ser)
c.92-3712G>A (n.92-3712G>A)
2g.237381057C>ACA351217053COL6A3c.1137G>T (p.Lys379Asn)
c.1755G>T (p.Lys585Asn)
c.534G>T (p.Lys178Asn)
c.92-3713G>T (n.92-3713G>T)
 ClinVar
2g.237381057C>GCA351217055COL6A3c.1137G>C (p.Lys379Asn)
c.1755G>C (p.Lys585Asn)
c.534G>C (p.Lys178Asn)
c.92-3713G>C (n.92-3713G>C)
 gnomAD v4
2g.237381057C>TCA431712543COL6A3c.1137G>A (p.Lys379=)
c.1755G>A (p.Lys585=)
c.534G>A (p.Lys178=)
c.92-3713G>A (n.92-3713G>A)
2g.237381058T>ACA351217060COL6A3c.1136A>T (p.Lys379Met)
c.1754A>T (p.Lys585Met)
c.533A>T (p.Lys178Met)
c.92-3714A>T (n.92-3714A>T)
 ClinVar dbSNP
2g.237381058T>CCA351217062COL6A3c.1136A>G (p.Lys379Arg)
c.1754A>G (p.Lys585Arg)
c.533A>G (p.Lys178Arg)
c.92-3714A>G (n.92-3714A>G)
2g.237381058T>GCA351217063COL6A3c.1136A>C (p.Lys379Thr)
c.1754A>C (p.Lys585Thr)
c.533A>C (p.Lys178Thr)
c.92-3714A>C (n.92-3714A>C)
2g.237381058T=CA1337627242COL6A3c.1136A= (p.Lys379=)
c.1754A= (p.Lys585=)
c.533A= (p.Lys178=)
c.92-3714A= (n.92-3714A=)
2g.237381059T>ACA351217067COL6A3c.1135A>T (p.Lys379Ter)
c.1753A>T (p.Lys585Ter)
c.532A>T (p.Lys178Ter)
c.92-3715A>T (n.92-3715A>T)
2g.237381059T>CCA351217066COL6A3c.1135A>G (p.Lys379Glu)
c.1753A>G (p.Lys585Glu)
c.532A>G (p.Lys178Glu)
c.92-3715A>G (n.92-3715A>G)
 dbSNP gnomAD v4
2g.237381059T>GCA351217064COL6A3c.1135A>C (p.Lys379Gln)
c.1753A>C (p.Lys585Gln)
c.532A>C (p.Lys178Gln)
c.92-3715A>C (n.92-3715A>C)
2g.237381059T=CA1337627243COL6A3c.1135A= (p.Lys379=)
c.1753A= (p.Lys585=)
c.532A= (p.Lys178=)
c.92-3715A= (n.92-3715A=)
2g.237381060G>ACA431712547COL6A3c.1134C>T (p.Asn378=)
c.1752C>T (p.Asn584=)
c.531C>T (p.Asn177=)
c.92-3716C>T (n.92-3716C>T)
2g.237381060G>CCA351217069COL6A3c.1134C>G (p.Asn378Lys)
c.1752C>G (p.Asn584Lys)
c.531C>G (p.Asn177Lys)
c.92-3716C>G (n.92-3716C>G)
2g.237381060G>TCA351217068COL6A3c.1134C>A (p.Asn378Lys)
c.1752C>A (p.Asn584Lys)
c.531C>A (p.Asn177Lys)
c.92-3716C>A (n.92-3716C>A)
2g.237381061T>ACA351217070COL6A3c.1133A>T (p.Asn378Ile)
c.1751A>T (p.Asn584Ile)
c.530A>T (p.Asn177Ile)
c.92-3717A>T (n.92-3717A>T)
2g.237381061T>CCA2189563COL6A3c.1133A>G (p.Asn378Ser)
c.1751A>G (p.Asn584Ser)
c.530A>G (p.Asn177Ser)
c.92-3717A>G (n.92-3717A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381061T>GCA351217072COL6A3c.1133A>C (p.Asn378Thr)
c.1751A>C (p.Asn584Thr)
c.530A>C (p.Asn177Thr)
c.92-3717A>C (n.92-3717A>C)
2g.237381061T=CA1337627244COL6A3c.1133A= (p.Asn378=)
c.1751A= (p.Asn584=)
c.530A= (p.Asn177=)
c.92-3717A= (n.92-3717A=)
2g.237381062T>ACA351217074COL6A3c.1132A>T (p.Asn378Tyr)
c.1750A>T (p.Asn584Tyr)
c.529A>T (p.Asn177Tyr)
c.92-3718A>T (n.92-3718A>T)
2g.237381062T>CCA351217077COL6A3c.1132A>G (p.Asn378Asp)
c.1750A>G (p.Asn584Asp)
c.529A>G (p.Asn177Asp)
c.92-3718A>G (n.92-3718A>G)
2g.237381062T>GCA351217078COL6A3c.1132A>C (p.Asn378His)
c.1750A>C (p.Asn584His)
c.529A>C (p.Asn177His)
c.92-3718A>C (n.92-3718A>C)
2g.237381063C>ACA431712548COL6A3c.1131G>T (p.Gly377=)
c.1749G>T (p.Gly583=)
c.528G>T (p.Gly176=)
c.92-3719G>T (n.92-3719G>T)
2g.237381063C>GCA431712549COL6A3c.1131G>C (p.Gly377=)
c.1749G>C (p.Gly583=)
c.528G>C (p.Gly176=)
c.92-3719G>C (n.92-3719G>C)
2g.237381063C>TCA431712550COL6A3c.1131G>A (p.Gly377=)
c.1749G>A (p.Gly583=)
c.528G>A (p.Gly176=)
c.92-3719G>A (n.92-3719G>A)
2g.237381064C>ACA351217079COL6A3c.1130G>T (p.Gly377Val)
c.1748G>T (p.Gly583Val)
c.527G>T (p.Gly176Val)
c.92-3720G>T (n.92-3720G>T)
2g.237381064C>GCA351217082COL6A3c.1130G>C (p.Gly377Ala)
c.1748G>C (p.Gly583Ala)
c.527G>C (p.Gly176Ala)
c.92-3720G>C (n.92-3720G>C)
2g.237381064C>TCA351217080COL6A3c.1130G>A (p.Gly377Glu)
c.1748G>A (p.Gly583Glu)
c.527G>A (p.Gly176Glu)
c.92-3720G>A (n.92-3720G>A)
2g.237381065C>ACA351217084COL6A3c.1129G>T (p.Gly377Trp)
c.1747G>T (p.Gly583Trp)
c.526G>T (p.Gly176Trp)
c.92-3721G>T (n.92-3721G>T)
2g.237381065C>GCA351217086COL6A3c.1129G>C (p.Gly377Arg)
c.1747G>C (p.Gly583Arg)
c.526G>C (p.Gly176Arg)
c.92-3721G>C (n.92-3721G>C)
2g.237381065C>TCA351217088COL6A3c.1129G>A (p.Gly377Arg)
c.1747G>A (p.Gly583Arg)
c.526G>A (p.Gly176Arg)
c.92-3721G>A (n.92-3721G>A)
2g.237381066A>CCA351217091COL6A3c.1128T>G (p.Ile376Met)
c.1746T>G (p.Ile582Met)
c.525T>G (p.Ile175Met)
c.92-3722T>G (n.92-3722T>G)
2g.237381066A>GCA431712551COL6A3c.1128T>C (p.Ile376=)
c.1746T>C (p.Ile582=)
c.525T>C (p.Ile175=)
c.92-3722T>C (n.92-3722T>C)
 dbSNP
2g.237381066A>TCA431712552COL6A3c.1128T>A (p.Ile376=)
c.1746T>A (p.Ile582=)
c.525T>A (p.Ile175=)
c.92-3722T>A (n.92-3722T>A)
 gnomAD v4
2g.237381067A=CA1337627245COL6A3c.1127T= (p.Ile376=)
c.1745T= (p.Ile582=)
c.524T= (p.Ile175=)
c.92-3723T= (n.92-3723T=)
2g.237381067A>CCA2189564COL6A3c.1127T>G (p.Ile376Ser)
c.1745T>G (p.Ile582Ser)
c.524T>G (p.Ile175Ser)
c.92-3723T>G (n.92-3723T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381067A>GCA351217098COL6A3c.1127T>C (p.Ile376Thr)
c.1745T>C (p.Ile582Thr)
c.524T>C (p.Ile175Thr)
c.92-3723T>C (n.92-3723T>C)
2g.237381067A>TCA351217096COL6A3c.1127T>A (p.Ile376Asn)
c.1745T>A (p.Ile582Asn)
c.524T>A (p.Ile175Asn)
c.92-3723T>A (n.92-3723T>A)
2g.237381068T>ACA351217101COL6A3c.1126A>T (p.Ile376Phe)
c.1744A>T (p.Ile582Phe)
c.523A>T (p.Ile175Phe)
c.92-3724A>T (n.92-3724A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.237381068T>CCA351217102COL6A3c.1126A>G (p.Ile376Val)
c.1744A>G (p.Ile582Val)
c.523A>G (p.Ile175Val)
c.92-3724A>G (n.92-3724A>G)
 gnomAD v4
2g.237381068T>GCA351217104COL6A3c.1126A>C (p.Ile376Leu)
c.1744A>C (p.Ile582Leu)
c.523A>C (p.Ile175Leu)
c.92-3724A>C (n.92-3724A>C)
2g.237381068T=CA1337627246COL6A3c.1126A= (p.Ile376=)
c.1744A= (p.Ile582=)
c.523A= (p.Ile175=)
c.92-3724A= (n.92-3724A=)
2g.237381069G>ACA431712557COL6A3c.1125C>T (p.Ala375=)
c.1743C>T (p.Ala581=)
c.522C>T (p.Ala174=)
c.92-3725C>T (n.92-3725C>T)
2g.237381069G>CCA431712558COL6A3c.1125C>G (p.Ala375=)
c.1743C>G (p.Ala581=)
c.522C>G (p.Ala174=)
c.92-3725C>G (n.92-3725C>G)
2g.237381069G>TCA431712559COL6A3c.1125C>A (p.Ala375=)
c.1743C>A (p.Ala581=)
c.522C>A (p.Ala174=)
c.92-3725C>A (n.92-3725C>A)
2g.237381070G>ACA351217108COL6A3c.1124C>T (p.Ala375Val)
c.1742C>T (p.Ala581Val)
c.521C>T (p.Ala174Val)
c.92-3726C>T (n.92-3726C>T)
2g.237381070G>CCA351217109COL6A3c.1124C>G (p.Ala375Gly)
c.1742C>G (p.Ala581Gly)
c.521C>G (p.Ala174Gly)
c.92-3726C>G (n.92-3726C>G)
2g.237381070G>TCA351217112COL6A3c.1124C>A (p.Ala375Asp)
c.1742C>A (p.Ala581Asp)
c.521C>A (p.Ala174Asp)
c.92-3726C>A (n.92-3726C>A)
2g.237381071C>ACA351217114COL6A3c.1123G>T (p.Ala375Ser)
c.1741G>T (p.Ala581Ser)
c.520G>T (p.Ala174Ser)
c.92-3727G>T (n.92-3727G>T)
2g.237381071C>GCA351217116COL6A3c.1123G>C (p.Ala375Pro)
c.1741G>C (p.Ala581Pro)
c.520G>C (p.Ala174Pro)
c.92-3727G>C (n.92-3727G>C)
2g.237381071C>TCA351217118COL6A3c.1123G>A (p.Ala375Thr)
c.1741G>A (p.Ala581Thr)
c.520G>A (p.Ala174Thr)
c.92-3727G>A (n.92-3727G>A)
 gnomAD v4
2g.237381072A=CA1337627247COL6A3c.1122T= (p.Phe374=)
c.1740T= (p.Phe580=)
c.519T= (p.Phe173=)
c.92-3728T= (n.92-3728T=)
2g.237381072A>CCA351217120COL6A3c.1122T>G (p.Phe374Leu)
c.1740T>G (p.Phe580Leu)
c.519T>G (p.Phe173Leu)
c.92-3728T>G (n.92-3728T>G)
 ClinVar dbSNP
2g.237381072A>GCA431712560COL6A3c.1122T>C (p.Phe374=)
c.1740T>C (p.Phe580=)
c.519T>C (p.Phe173=)
c.92-3728T>C (n.92-3728T>C)
2g.237381072A>TCA351217122COL6A3c.1122T>A (p.Phe374Leu)
c.1740T>A (p.Phe580Leu)
c.519T>A (p.Phe173Leu)
c.92-3728T>A (n.92-3728T>A)
2g.237381073A>CCA351217126COL6A3c.1121T>G (p.Phe374Cys)
c.1739T>G (p.Phe580Cys)
c.518T>G (p.Phe173Cys)
c.92-3729T>G (n.92-3729T>G)
2g.237381073A>GCA351217128COL6A3c.1121T>C (p.Phe374Ser)
c.1739T>C (p.Phe580Ser)
c.518T>C (p.Phe173Ser)
c.92-3729T>C (n.92-3729T>C)
 gnomAD v4
2g.237381073A>TCA351217124COL6A3c.1121T>A (p.Phe374Tyr)
c.1739T>A (p.Phe580Tyr)
c.518T>A (p.Phe173Tyr)
c.92-3729T>A (n.92-3729T>A)
2g.237381074A>CCA351217130COL6A3c.1120T>G (p.Phe374Val)
c.1738T>G (p.Phe580Val)
c.517T>G (p.Phe173Val)
c.92-3730T>G (n.92-3730T>G)
2g.237381074A>GCA351217134COL6A3c.1120T>C (p.Phe374Leu)
c.1738T>C (p.Phe580Leu)
c.517T>C (p.Phe173Leu)
c.92-3730T>C (n.92-3730T>C)
2g.237381074A>TCA351217132COL6A3c.1120T>A (p.Phe374Ile)
c.1738T>A (p.Phe580Ile)
c.517T>A (p.Phe173Ile)
c.92-3730T>A (n.92-3730T>A)
2g.237381075G>ACA431712563COL6A3c.1119C>T (p.Ala373=)
c.1737C>T (p.Ala579=)
c.516C>T (p.Ala172=)
c.92-3731C>T (n.92-3731C>T)
 gnomAD v4
2g.237381075G>CCA431712565COL6A3c.1119C>G (p.Ala373=)
c.1737C>G (p.Ala579=)
c.516C>G (p.Ala172=)
c.92-3731C>G (n.92-3731C>G)
2g.237381075G>TCA431712564COL6A3c.1119C>A (p.Ala373=)
c.1737C>A (p.Ala579=)
c.516C>A (p.Ala172=)
c.92-3731C>A (n.92-3731C>A)
2g.237381076G>ACA351217136COL6A3c.1118C>T (p.Ala373Val)
c.1736C>T (p.Ala579Val)
c.515C>T (p.Ala172Val)
c.92-3732C>T (n.92-3732C>T)
2g.237381076G>CCA351217138COL6A3c.1118C>G (p.Ala373Gly)
c.1736C>G (p.Ala579Gly)
c.515C>G (p.Ala172Gly)
c.92-3732C>G (n.92-3732C>G)
2g.237381076G>TCA351217137COL6A3c.1118C>A (p.Ala373Asp)
c.1736C>A (p.Ala579Asp)
c.515C>A (p.Ala172Asp)
c.92-3732C>A (n.92-3732C>A)
2g.237381077C>ACA351217139COL6A3c.1117G>T (p.Ala373Ser)
c.1735G>T (p.Ala579Ser)
c.514G>T (p.Ala172Ser)
c.92-3733G>T (n.92-3733G>T)
2g.237381077C=CA1337627248COL6A3c.1117G= (p.Ala373=)
c.1735G= (p.Ala579=)
c.514G= (p.Ala172=)
c.92-3733G= (n.92-3733G=)
2g.237381077C>GCA351217140COL6A3c.1117G>C (p.Ala373Pro)
c.1735G>C (p.Ala579Pro)
c.514G>C (p.Ala172Pro)
c.92-3733G>C (n.92-3733G>C)
2g.237381077C>TCA351217141COL6A3c.1117G>A (p.Ala373Thr)
c.1735G>A (p.Ala579Thr)
c.514G>A (p.Ala172Thr)
c.92-3733G>A (n.92-3733G>A)
 ClinVar dbSNP
2g.237381078C>ACA351217142COL6A3c.1116G>T (p.Met372Ile)
c.1734G>T (p.Met578Ile)
c.513G>T (p.Met171Ile)
c.92-3734G>T (n.92-3734G>T)
2g.237381078C>GCA351217143COL6A3c.1116G>C (p.Met372Ile)
c.1734G>C (p.Met578Ile)
c.513G>C (p.Met171Ile)
c.92-3734G>C (n.92-3734G>C)
2g.237381078C>TCA351217144COL6A3c.1116G>A (p.Met372Ile)
c.1734G>A (p.Met578Ile)
c.513G>A (p.Met171Ile)
c.92-3734G>A (n.92-3734G>A)
2g.237381079A>CCA351217145COL6A3c.1115T>G (p.Met372Arg)
c.1733T>G (p.Met578Arg)
c.512T>G (p.Met171Arg)
c.92-3735T>G (n.92-3735T>G)
 gnomAD v4
2g.237381079A>GCA351217146COL6A3c.1115T>C (p.Met372Thr)
c.1733T>C (p.Met578Thr)
c.512T>C (p.Met171Thr)
c.92-3735T>C (n.92-3735T>C)
2g.237381079A>TCA351217147COL6A3c.1115T>A (p.Met372Lys)
c.1733T>A (p.Met578Lys)
c.512T>A (p.Met171Lys)
c.92-3735T>A (n.92-3735T>A)
2g.237381080T>ACA351217148COL6A3c.1114A>T (p.Met372Leu)
c.1732A>T (p.Met578Leu)
c.511A>T (p.Met171Leu)
c.92-3736A>T (n.92-3736A>T)
2g.237381080T>CCA351217149COL6A3c.1114A>G (p.Met372Val)
c.1732A>G (p.Met578Val)
c.511A>G (p.Met171Val)
c.92-3736A>G (n.92-3736A>G)
 dbSNP gnomAD v4
2g.237381080T>GCA351217150COL6A3c.1114A>C (p.Met372Leu)
c.1732A>C (p.Met578Leu)
c.511A>C (p.Met171Leu)
c.92-3736A>C (n.92-3736A>C)
2g.237381080T=CA1337627249COL6A3c.1114A= (p.Met372=)
c.1732A= (p.Met578=)
c.511A= (p.Met171=)
c.92-3736A= (n.92-3736A=)
2g.237381081T>ACA431712568COL6A3c.1113A>T (p.Ile371=)
c.1731A>T (p.Ile577=)
c.510A>T (p.Ile170=)
c.92-3737A>T (n.92-3737A>T)
2g.237381081T>CCA351217151COL6A3c.1113A>G (p.Ile371Met)
c.1731A>G (p.Ile577Met)
c.510A>G (p.Ile170Met)
c.92-3737A>G (n.92-3737A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.237381081T>GCA431712570COL6A3c.1113A>C (p.Ile371=)
c.1731A>C (p.Ile577=)
c.510A>C (p.Ile170=)
c.92-3737A>C (n.92-3737A>C)
2g.237381081T=CA1337627250COL6A3c.1113A= (p.Ile371=)
c.1731A= (p.Ile577=)
c.510A= (p.Ile170=)
c.92-3737A= (n.92-3737A=)
2g.237381082A=CA1337627251COL6A3c.1112T= (p.Ile371=)
c.1730T= (p.Ile577=)
c.509T= (p.Ile170=)
c.92-3738T= (n.92-3738T=)
2g.237381082A>CCA351217152COL6A3c.1112T>G (p.Ile371Arg)
c.1730T>G (p.Ile577Arg)
c.509T>G (p.Ile170Arg)
c.92-3738T>G (n.92-3738T>G)
2g.237381082A>GCA351217153COL6A3c.1112T>C (p.Ile371Thr)
c.1730T>C (p.Ile577Thr)
c.509T>C (p.Ile170Thr)
c.92-3738T>C (n.92-3738T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.237381082A>TCA351217154COL6A3c.1112T>A (p.Ile371Lys)
c.1730T>A (p.Ile577Lys)
c.509T>A (p.Ile170Lys)
c.92-3738T>A (n.92-3738T>A)
2g.237381083T>ACA351217155COL6A3c.1111A>T (p.Ile371Leu)
c.1729A>T (p.Ile577Leu)
c.508A>T (p.Ile170Leu)
c.92-3739A>T (n.92-3739A>T)
2g.237381083T>CCA351217156COL6A3c.1111A>G (p.Ile371Val)
c.1729A>G (p.Ile577Val)
c.508A>G (p.Ile170Val)
c.92-3739A>G (n.92-3739A>G)
 ClinVar
2g.237381083T>GCA351217157COL6A3c.1111A>C (p.Ile371Leu)
c.1729A>C (p.Ile577Leu)
c.508A>C (p.Ile170Leu)
c.92-3739A>C (n.92-3739A>C)
2g.237381084G>ACA431712571COL6A3c.1110C>T (p.Ser370=)
c.1728C>T (p.Ser576=)
c.507C>T (p.Ser169=)
c.92-3740C>T (n.92-3740C>T)
 gnomAD v4
2g.237381084G>CCA351217158COL6A3c.1110C>G (p.Ser370Arg)
c.1728C>G (p.Ser576Arg)
c.507C>G (p.Ser169Arg)
c.92-3740C>G (n.92-3740C>G)
2g.237381084G=CA1337627252COL6A3c.1110C= (p.Ser370=)
c.1728C= (p.Ser576=)
c.507C= (p.Ser169=)
c.92-3740C= (n.92-3740C=)
2g.237381084G>TCA2189565COL6A3c.1110C>A (p.Ser370Arg)
c.1728C>A (p.Ser576Arg)
c.507C>A (p.Ser169Arg)
c.92-3740C>A (n.92-3740C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237381085C>ACA351217159COL6A3c.1109G>T (p.Ser370Ile)
c.1727G>T (p.Ser576Ile)
c.506G>T (p.Ser169Ile)
c.92-3741G>T (n.92-3741G>T)
2g.237381085C=CA1337627253COL6A3c.1109G= (p.Ser370=)
c.1727G= (p.Ser576=)
c.506G= (p.Ser169=)
c.92-3741G= (n.92-3741G=)
2g.237381085C>GCA351217160COL6A3c.1109G>C (p.Ser370Thr)
c.1727G>C (p.Ser576Thr)
c.506G>C (p.Ser169Thr)
c.92-3741G>C (n.92-3741G>C)
2g.237381085C>TCA351217161COL6A3c.1109G>A (p.Ser370Asn)
c.1727G>A (p.Ser576Asn)
c.506G>A (p.Ser169Asn)
c.92-3741G>A (n.92-3741G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237381086T>ACA351217164COL6A3c.1108A>T (p.Ser370Cys)
c.1726A>T (p.Ser576Cys)
c.505A>T (p.Ser169Cys)
c.92-3742A>T (n.92-3742A>T)
2g.237381086T>CCA351217163COL6A3c.1108A>G (p.Ser370Gly)
c.1726A>G (p.Ser576Gly)
c.505A>G (p.Ser169Gly)
c.92-3742A>G (n.92-3742A>G)
2g.237381086T>GCA351217162COL6A3c.1108A>C (p.Ser370Arg)
c.1726A>C (p.Ser576Arg)
c.505A>C (p.Ser169Arg)
c.92-3742A>C (n.92-3742A>C)
2g.237381087G>ACA431712575COL6A3c.1107C>T (p.Ser369=)
c.1725C>T (p.Ser575=)
c.504C>T (p.Ser168=)
c.92-3743C>T (n.92-3743C>T)
2g.237381087G>CCA351217165COL6A3c.1107C>G (p.Ser369Arg)
c.1725C>G (p.Ser575Arg)
c.504C>G (p.Ser168Arg)
c.92-3743C>G (n.92-3743C>G)
2g.237381087G>TCA351217166COL6A3c.1107C>A (p.Ser369Arg)
c.1725C>A (p.Ser575Arg)
c.504C>A (p.Ser168Arg)
c.92-3743C>A (n.92-3743C>A)
2g.237381088C>ACA351217167COL6A3c.1106G>T (p.Ser369Ile)
c.1724G>T (p.Ser575Ile)
c.503G>T (p.Ser168Ile)
c.92-3744G>T (n.92-3744G>T)
2g.237381088C>GCA351217168COL6A3c.1106G>C (p.Ser369Thr)
c.1724G>C (p.Ser575Thr)
c.503G>C (p.Ser168Thr)
c.92-3744G>C (n.92-3744G>C)
2g.237381088C>TCA351217169COL6A3c.1106G>A (p.Ser369Asn)
c.1724G>A (p.Ser575Asn)
c.503G>A (p.Ser168Asn)
c.92-3744G>A (n.92-3744G>A)
2g.237381089T>ACA351217170COL6A3c.1105A>T (p.Ser369Cys)
c.1723A>T (p.Ser575Cys)
c.502A>T (p.Ser168Cys)
c.92-3745A>T (n.92-3745A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.237381089T>CCA351217171COL6A3c.1105A>G (p.Ser369Gly)
c.1723A>G (p.Ser575Gly)
c.502A>G (p.Ser168Gly)
c.92-3745A>G (n.92-3745A>G)
 gnomAD v4
2g.237381089T>GCA351217172COL6A3c.1105A>C (p.Ser369Arg)
c.1723A>C (p.Ser575Arg)
c.502A>C (p.Ser168Arg)
c.92-3745A>C (n.92-3745A>C)
2g.237381089T=CA1337627254COL6A3c.1105A= (p.Ser369=)
c.1723A= (p.Ser575=)
c.502A= (p.Ser168=)
c.92-3745A= (n.92-3745A=)
2g.237381090T>ACA351217173COL6A3c.1104A>T (p.Arg368Ser)
c.1722A>T (p.Arg574Ser)
c.501A>T (p.Arg167Ser)
c.92-3746A>T (n.92-3746A>T)
2g.237381090T>CCA431712577COL6A3c.1104A>G (p.Arg368=)
c.1722A>G (p.Arg574=)
c.501A>G (p.Arg167=)
c.92-3746A>G (n.92-3746A>G)
2g.237381090T>GCA351217174COL6A3c.1104A>C (p.Arg368Ser)
c.1722A>C (p.Arg574Ser)
c.501A>C (p.Arg167Ser)
c.92-3746A>C (n.92-3746A>C)
2g.237381091C>ACA351217175COL6A3c.1103G>T (p.Arg368Ile)
c.1721G>T (p.Arg574Ile)
c.500G>T (p.Arg167Ile)
c.92-3747G>T (n.92-3747G>T)
 COSMIC COSMIC
2g.237381091C>GCA351217176COL6A3c.1103G>C (p.Arg368Thr)
c.1721G>C (p.Arg574Thr)
c.500G>C (p.Arg167Thr)
c.92-3747G>C (n.92-3747G>C)
2g.237381091C>TCA351217177COL6A3c.1103G>A (p.Arg368Lys)
c.1721G>A (p.Arg574Lys)
c.500G>A (p.Arg167Lys)
c.92-3747G>A (n.92-3747G>A)
2g.237381092T>ACA351217178COL6A3c.1102A>T (p.Arg368Ter)
c.1720A>T (p.Arg574Ter)
c.499A>T (p.Arg167Ter)
c.92-3748A>T (n.92-3748A>T)
2g.237381092T>CCA351217179COL6A3c.1102A>G (p.Arg368Gly)
c.1720A>G (p.Arg574Gly)
c.499A>G (p.Arg167Gly)
c.92-3748A>G (n.92-3748A>G)
2g.237381092T>GCA431712579COL6A3c.1102A>C (p.Arg368=)
c.1720A>C (p.Arg574=)
c.499A>C (p.Arg167=)
c.92-3748A>C (n.92-3748A>C)
2g.237381093C>ACA351217180COL6A3c.1101G>T (p.Lys367Asn)
c.1719G>T (p.Lys573Asn)
c.498G>T (p.Lys166Asn)
c.92-3749G>T (n.92-3749G>T)
2g.237381093C>GCA351217181COL6A3c.1101G>C (p.Lys367Asn)
c.1719G>C (p.Lys573Asn)
c.498G>C (p.Lys166Asn)
c.92-3749G>C (n.92-3749G>C)
 dbSNP
2g.237381093C>TCA431712580COL6A3c.1101G>A (p.Lys367=)
c.1719G>A (p.Lys573=)
c.498G>A (p.Lys166=)
c.92-3749G>A (n.92-3749G>A)
2g.237381094T>ACA351217182COL6A3c.1100A>T (p.Lys367Met)
c.1718A>T (p.Lys573Met)
c.497A>T (p.Lys166Met)
c.92-3750A>T (n.92-3750A>T)
2g.237381094T>CCA351217183COL6A3c.1100A>G (p.Lys367Arg)
c.1718A>G (p.Lys573Arg)
c.497A>G (p.Lys166Arg)
c.92-3750A>G (n.92-3750A>G)
2g.237381094T>GCA351217184COL6A3c.1100A>C (p.Lys367Thr)
c.1718A>C (p.Lys573Thr)
c.497A>C (p.Lys166Thr)
c.92-3750A>C (n.92-3750A>C)
2g.237381095T>ACA351217185COL6A3c.1099A>T (p.Lys367Ter)
c.1717A>T (p.Lys573Ter)
c.496A>T (p.Lys166Ter)
c.92-3751A>T (n.92-3751A>T)
2g.237381095T>CCA351217186COL6A3c.1099A>G (p.Lys367Glu)
c.1717A>G (p.Lys573Glu)
c.496A>G (p.Lys166Glu)
c.92-3751A>G (n.92-3751A>G)
2g.237381095T>GCA351217187COL6A3c.1099A>C (p.Lys367Gln)
c.1717A>C (p.Lys573Gln)
c.496A>C (p.Lys166Gln)
c.92-3751A>C (n.92-3751A>C)
2g.237381096C>ACA431712584COL6A3c.1098G>T (p.Leu366=)
c.1716G>T (p.Leu572=)
c.495G>T (p.Leu165=)
c.92-3752G>T (n.92-3752G>T)
2g.237381096C=CA1337627255COL6A3c.1098G= (p.Leu366=)
c.1716G= (p.Leu572=)
c.495G= (p.Leu165=)
c.92-3752G= (n.92-3752G=)
2g.237381096C>GCA431712585COL6A3c.1098G>C (p.Leu366=)
c.1716G>C (p.Leu572=)
c.495G>C (p.Leu165=)
c.92-3752G>C (n.92-3752G>C)
2g.237381096C>TCA67830416COL6A3c.1098G>A (p.Leu366=)
c.1716G>A (p.Leu572=)
c.495G>A (p.Leu165=)
c.92-3752G>A (n.92-3752G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.237381097A>CCA351217188COL6A3c.1097T>G (p.Leu366Arg)
c.1715T>G (p.Leu572Arg)
c.494T>G (p.Leu165Arg)
c.92-3753T>G (n.92-3753T>G)
2g.237381097A>GCA351217189COL6A3c.1097T>C (p.Leu366Pro)
c.1715T>C (p.Leu572Pro)
c.494T>C (p.Leu165Pro)
c.92-3753T>C (n.92-3753T>C)
2g.237381097A>TCA351217190COL6A3c.1097T>A (p.Leu366Gln)
c.1715T>A (p.Leu572Gln)
c.494T>A (p.Leu165Gln)
c.92-3753T>A (n.92-3753T>A)
2g.237381098G>ACA2189566COL6A3c.1096C>T (p.Leu366=)
c.1714C>T (p.Leu572=)
c.493C>T (p.Leu165=)
c.92-3754C>T (n.92-3754C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237381098G>CCA351217192COL6A3c.1096C>G (p.Leu366Val)
c.1714C>G (p.Leu572Val)
c.493C>G (p.Leu165Val)
c.92-3754C>G (n.92-3754C>G)
2g.237381098G=CA1337627256COL6A3c.1096C= (p.Leu366=)
c.1714C= (p.Leu572=)
c.493C= (p.Leu165=)
c.92-3754C= (n.92-3754C=)
2g.237381098G>TCA351217191COL6A3c.1096C>A (p.Leu366Met)
c.1714C>A (p.Leu572Met)
c.493C>A (p.Leu165Met)
c.92-3754C>A (n.92-3754C>A)
2g.237381099C>ACA351217193COL6A3c.1095G>T (p.Glu365Asp)
c.1713G>T (p.Glu571Asp)
c.492G>T (p.Glu164Asp)
c.92-3755G>T (n.92-3755G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.237381099C=CA1337627257COL6A3c.1095G= (p.Glu365=)
c.1713G= (p.Glu571=)
c.492G= (p.Glu164=)
c.92-3755G= (n.92-3755G=)
2g.237381099C>GCA351217194COL6A3c.1095G>C (p.Glu365Asp)
c.1713G>C (p.Glu571Asp)
c.492G>C (p.Glu164Asp)
c.92-3755G>C (n.92-3755G>C)
2g.237381099C>TCA431712587COL6A3c.1095G>A (p.Glu365=)
c.1713G>A (p.Glu571=)
c.492G>A (p.Glu164=)
c.92-3755G>A (n.92-3755G>A)
2g.237381100T>ACA351217195COL6A3c.1094A>T (p.Glu365Val)
c.1712A>T (p.Glu571Val)
c.491A>T (p.Glu164Val)
c.92-3756A>T (n.92-3756A>T)
2g.237381100T>CCA351217196COL6A3c.1094A>G (p.Glu365Gly)
c.1712A>G (p.Glu571Gly)
c.491A>G (p.Glu164Gly)
c.92-3756A>G (n.92-3756A>G)
2g.237381100T>GCA351217197COL6A3c.1094A>C (p.Glu365Ala)
c.1712A>C (p.Glu571Ala)
c.491A>C (p.Glu164Ala)
c.92-3756A>C (n.92-3756A>C)
2g.237381101C>ACA351217198COL6A3c.1093G>T (p.Glu365Ter)
c.1711G>T (p.Glu571Ter)
c.490G>T (p.Glu164Ter)
c.92-3757G>T (n.92-3757G>T)
2g.237381101C=CA1337627258COL6A3c.1093G= (p.Glu365=)
c.1711G= (p.Glu571=)
c.490G= (p.Glu164=)
c.92-3757G= (n.92-3757G=)
2g.237381101C>GCA351217199COL6A3c.1093G>C (p.Glu365Gln)
c.1711G>C (p.Glu571Gln)
c.490G>C (p.Glu164Gln)
c.92-3757G>C (n.92-3757G>C)
2g.237381101C>TCA351217200COL6A3c.1093G>A (p.Glu365Lys)
c.1711G>A (p.Glu571Lys)
c.490G>A (p.Glu164Lys)
c.92-3757G>A (n.92-3757G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237381102C>ACA351217201COL6A3c.1092G>T (p.Gln364His)
c.1710G>T (p.Gln570His)
c.489G>T (p.Gln163His)
c.92-3758G>T (n.92-3758G>T)
2g.237381102C>GCA351217202COL6A3c.1092G>C (p.Gln364His)
c.1710G>C (p.Gln570His)
c.489G>C (p.Gln163His)
c.92-3758G>C (n.92-3758G>C)
2g.237381102C>TCA431712588COL6A3c.1092G>A (p.Gln364=)
c.1710G>A (p.Gln570=)
c.489G>A (p.Gln163=)
c.92-3758G>A (n.92-3758G>A)
2g.237381103T>ACA351217203COL6A3c.1091A>T (p.Gln364Leu)
c.1709A>T (p.Gln570Leu)
c.488A>T (p.Gln163Leu)
c.92-3759A>T (n.92-3759A>T)
2g.237381103T>CCA351217204COL6A3c.1091A>G (p.Gln364Arg)
c.1709A>G (p.Gln570Arg)
c.488A>G (p.Gln163Arg)
c.92-3759A>G (n.92-3759A>G)
2g.237381103T>GCA351217205COL6A3c.1091A>C (p.Gln364Pro)
c.1709A>C (p.Gln570Pro)
c.488A>C (p.Gln163Pro)
c.92-3759A>C (n.92-3759A>C)
2g.237381104G>ACA351217208COL6A3c.1090C>T (p.Gln364Ter)
c.1708C>T (p.Gln570Ter)
c.487C>T (p.Gln163Ter)
c.92-3760C>T (n.92-3760C>T)
2g.237381104G>CCA351217207COL6A3c.1090C>G (p.Gln364Glu)
c.1708C>G (p.Gln570Glu)
c.487C>G (p.Gln163Glu)
c.92-3760C>G (n.92-3760C>G)
2g.237381104G>TCA351217206COL6A3c.1090C>A (p.Gln364Lys)
c.1708C>A (p.Gln570Lys)
c.487C>A (p.Gln163Lys)
c.92-3760C>A (n.92-3760C>A)
 gnomAD v4
2g.237381105G>ACA431712591COL6A3c.1089C>T (p.Ala363=)
c.1707C>T (p.Ala569=)
c.486C>T (p.Ala162=)
c.92-3761C>T (n.92-3761C>T)
 dbSNP
2g.237381105G>CCA431712592COL6A3c.1089C>G (p.Ala363=)
c.1707C>G (p.Ala569=)
c.486C>G (p.Ala162=)
c.92-3761C>G (n.92-3761C>G)
2g.237381105G=CA1337627259COL6A3c.1089C= (p.Ala363=)
c.1707C= (p.Ala569=)
c.486C= (p.Ala162=)
c.92-3761C= (n.92-3761C=)
2g.237381105G>TCA431712593COL6A3c.1089C>A (p.Ala363=)
c.1707C>A (p.Ala569=)
c.486C>A (p.Ala162=)
c.92-3761C>A (n.92-3761C>A)
2g.237381106G>ACA351217209COL6A3c.1088C>T (p.Ala363Val)
c.1706C>T (p.Ala569Val)
c.485C>T (p.Ala162Val)
c.92-3762C>T (n.92-3762C>T)
2g.237381106G>CCA351217210COL6A3c.1088C>G (p.Ala363Gly)
c.1706C>G (p.Ala569Gly)
c.485C>G (p.Ala162Gly)
c.92-3762C>G (n.92-3762C>G)
2g.237381106G>TCA351217211COL6A3c.1088C>A (p.Ala363Asp)
c.1706C>A (p.Ala569Asp)
c.485C>A (p.Ala162Asp)
c.92-3762C>A (n.92-3762C>A)
2g.237381107C>ACA351217212COL6A3c.1087G>T (p.Ala363Ser)
c.1705G>T (p.Ala569Ser)
c.484G>T (p.Ala162Ser)
c.92-3763G>T (n.92-3763G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237381107C=CA1337627260COL6A3c.1087G= (p.Ala363=)
c.1705G= (p.Ala569=)
c.484G= (p.Ala162=)
c.92-3763G= (n.92-3763G=)
2g.237381107C>GCA351217213COL6A3c.1087G>C (p.Ala363Pro)
c.1705G>C (p.Ala569Pro)
c.484G>C (p.Ala162Pro)
c.92-3763G>C (n.92-3763G>C)
2g.237381107C>TCA351217214COL6A3c.1087G>A (p.Ala363Thr)
c.1705G>A (p.Ala569Thr)
c.484G>A (p.Ala162Thr)
c.92-3763G>A (n.92-3763G>A)
2g.237381108A=CA1337627261COL6A3c.1086T= (p.Pro362=)
c.1704T= (p.Pro568=)
c.483T= (p.Pro161=)
c.92-3764T= (n.92-3764T=)
2g.237381108A>CCA431712594COL6A3c.1086T>G (p.Pro362=)
c.1704T>G (p.Pro568=)
c.483T>G (p.Pro161=)
c.92-3764T>G (n.92-3764T>G)
2g.237381108A>GCA431712596COL6A3c.1086T>C (p.Pro362=)
c.1704T>C (p.Pro568=)
c.483T>C (p.Pro161=)
c.92-3764T>C (n.92-3764T>C)
 dbSNP
2g.237381108A>TCA431712597COL6A3c.1086T>A (p.Pro362=)
c.1704T>A (p.Pro568=)
c.483T>A (p.Pro161=)
c.92-3764T>A (n.92-3764T>A)
2g.237381109G>ACA351217215COL6A3c.1085C>T (p.Pro362Leu)
c.1703C>T (p.Pro568Leu)
c.482C>T (p.Pro161Leu)
c.92-3765C>T (n.92-3765C>T)
2g.237381109G>CCA351217216COL6A3c.1085C>G (p.Pro362Arg)
c.1703C>G (p.Pro568Arg)
c.482C>G (p.Pro161Arg)
c.92-3765C>G (n.92-3765C>G)
2g.237381109G>TCA351217217COL6A3c.1085C>A (p.Pro362His)
c.1703C>A (p.Pro568His)
c.482C>A (p.Pro161His)
c.92-3765C>A (n.92-3765C>A)
2g.237381110_237381114delCA2580066111COL6A3c.1081_1085del (p.Gln361CysfsTer23)
c.1699_1703del (p.Gln567CysfsTer23)
c.478_482del (p.Gln160CysfsTer23)
c.92-3769_92-3765del (n.92-3769_92-3765del)
 ClinVar
2g.237381110G>ACA351217218COL6A3c.1084C>T (p.Pro362Ser)
c.1702C>T (p.Pro568Ser)
c.481C>T (p.Pro161Ser)
c.92-3766C>T (n.92-3766C>T)
2g.237381110G>CCA351217219COL6A3c.1084C>G (p.Pro362Ala)
c.1702C>G (p.Pro568Ala)
c.481C>G (p.Pro161Ala)
c.92-3766C>G (n.92-3766C>G)
2g.237381110G=CA1337627262COL6A3c.1084C= (p.Pro362=)
c.1702C= (p.Pro568=)
c.481C= (p.Pro161=)
c.92-3766C= (n.92-3766C=)
2g.237381110G>TCA67830444COL6A3c.1084C>A (p.Pro362Thr)
c.1702C>A (p.Pro568Thr)
c.481C>A (p.Pro161Thr)
c.92-3766C>A (n.92-3766C>A)
 dbSNP gnomAD v4
2g.237381111C>ACA351217220COL6A3c.1083G>T (p.Gln361His)
c.1701G>T (p.Gln567His)
c.480G>T (p.Gln160His)
c.92-3767G>T (n.92-3767G>T)
2g.237381111C>GCA351217221COL6A3c.1083G>C (p.Gln361His)
c.1701G>C (p.Gln567His)
c.480G>C (p.Gln160His)
c.92-3767G>C (n.92-3767G>C)
2g.237381111C>TCA431712598COL6A3c.1083G>A (p.Gln361=)
c.1701G>A (p.Gln567=)
c.480G>A (p.Gln160=)
c.92-3767G>A (n.92-3767G>A)
2g.237381112T>ACA351217223COL6A3c.1082A>T (p.Gln361Leu)
c.1700A>T (p.Gln567Leu)
c.479A>T (p.Gln160Leu)
c.92-3768A>T (n.92-3768A>T)
2g.237381112T>CCA351217224COL6A3c.1082A>G (p.Gln361Arg)
c.1700A>G (p.Gln567Arg)
c.479A>G (p.Gln160Arg)
c.92-3768A>G (n.92-3768A>G)
 gnomAD v4
2g.237381112T>GCA351217222COL6A3c.1082A>C (p.Gln361Pro)
c.1700A>C (p.Gln567Pro)
c.479A>C (p.Gln160Pro)
c.92-3768A>C (n.92-3768A>C)
2g.237381113G>ACA351217225COL6A3c.1081C>T (p.Gln361Ter)
c.1699C>T (p.Gln567Ter)
c.478C>T (p.Gln160Ter)
c.92-3769C>T (n.92-3769C>T)
 ClinVar dbSNP
2g.237381113G>CCA351217226COL6A3c.1081C>G (p.Gln361Glu)
c.1699C>G (p.Gln567Glu)
c.478C>G (p.Gln160Glu)
c.92-3769C>G (n.92-3769C>G)
2g.237381113G=CA1337627263COL6A3c.1081C= (p.Gln361=)
c.1699C= (p.Gln567=)
c.478C= (p.Gln160=)
c.92-3769C= (n.92-3769C=)
2g.237381113G>TCA351217227COL6A3c.1081C>A (p.Gln361Lys)
c.1699C>A (p.Gln567Lys)
c.478C>A (p.Gln160Lys)
c.92-3769C>A (n.92-3769C>A)
2g.237381114G>ACA431712600COL6A3c.1080C>T (p.Ser360=)
c.1698C>T (p.Ser566=)
c.477C>T (p.Ser159=)
c.92-3770C>T (n.92-3770C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.237381114G>CCA351217228COL6A3c.1080C>G (p.Ser360Arg)
c.1698C>G (p.Ser566Arg)
c.477C>G (p.Ser159Arg)
c.92-3770C>G (n.92-3770C>G)
2g.237381114G=CA1337627264COL6A3c.1080C= (p.Ser360=)
c.1698C= (p.Ser566=)
c.477C= (p.Ser159=)
c.92-3770C= (n.92-3770C=)
2g.237381114G>TCA351217229COL6A3c.1080C>A (p.Ser360Arg)
c.1698C>A (p.Ser566Arg)
c.477C>A (p.Ser159Arg)
c.92-3770C>A (n.92-3770C>A)
2g.237381115C>ACA351217230COL6A3c.1079G>T (p.Ser360Ile)
c.1697G>T (p.Ser566Ile)
c.476G>T (p.Ser159Ile)
c.92-3771G>T (n.92-3771G>T)
2g.237381115C>GCA351217231COL6A3c.1079G>C (p.Ser360Thr)
c.1697G>C (p.Ser566Thr)
c.476G>C (p.Ser159Thr)
c.92-3771G>C (n.92-3771G>C)
2g.237381115C>TCA351217232COL6A3c.1079G>A (p.Ser360Asn)
c.1697G>A (p.Ser566Asn)
c.476G>A (p.Ser159Asn)
c.92-3771G>A (n.92-3771G>A)
2g.237381116T>ACA351217233COL6A3c.1078A>T (p.Ser360Cys)
c.1696A>T (p.Ser566Cys)
c.475A>T (p.Ser159Cys)
c.92-3772A>T (n.92-3772A>T)
2g.237381116T>CCA351217234COL6A3c.1078A>G (p.Ser360Gly)
c.1696A>G (p.Ser566Gly)
c.475A>G (p.Ser159Gly)
c.92-3772A>G (n.92-3772A>G)
2g.237381116T>GCA351217235COL6A3c.1078A>C (p.Ser360Arg)
c.1696A>C (p.Ser566Arg)
c.475A>C (p.Ser159Arg)
c.92-3772A>C (n.92-3772A>C)
2g.237381117G>ACA431712601COL6A3c.1077C>T (p.Ile359=)
c.1695C>T (p.Ile565=)
c.474C>T (p.Ile158=)
c.92-3773C>T (n.92-3773C>T)
2g.237381117G>CCA351217236COL6A3c.1077C>G (p.Ile359Met)
c.1695C>G (p.Ile565Met)
c.474C>G (p.Ile158Met)
c.92-3773C>G (n.92-3773C>G)
 gnomAD v4
2g.237381117G>TCA431712603COL6A3c.1077C>A (p.Ile359=)
c.1695C>A (p.Ile565=)
c.474C>A (p.Ile158=)
c.92-3773C>A (n.92-3773C>A)
2g.237381118A>CCA351217238COL6A3c.1076T>G (p.Ile359Ser)
c.1694T>G (p.Ile565Ser)
c.473T>G (p.Ile158Ser)
c.92-3774T>G (n.92-3774T>G)
2g.237381118A>GCA351217239COL6A3c.1076T>C (p.Ile359Thr)
c.1694T>C (p.Ile565Thr)
c.473T>C (p.Ile158Thr)
c.92-3774T>C (n.92-3774T>C)
 ClinVar
2g.237381118A>TCA351217237COL6A3c.1076T>A (p.Ile359Asn)
c.1694T>A (p.Ile565Asn)
c.473T>A (p.Ile158Asn)
c.92-3774T>A (n.92-3774T>A)
2g.237381119T>ACA351217240COL6A3c.1075A>T (p.Ile359Phe)
c.1693A>T (p.Ile565Phe)
c.472A>T (p.Ile158Phe)
c.92-3775A>T (n.92-3775A>T)
2g.237381119T>CCA351217241COL6A3c.1075A>G (p.Ile359Val)
c.1693A>G (p.Ile565Val)
c.472A>G (p.Ile158Val)
c.92-3775A>G (n.92-3775A>G)
 dbSNP
2g.237381119T>GCA351217242COL6A3c.1075A>C (p.Ile359Leu)
c.1693A>C (p.Ile565Leu)
c.472A>C (p.Ile158Leu)
c.92-3775A>C (n.92-3775A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.237381119T=CA1337627265COL6A3c.1075A= (p.Ile359=)
c.1693A= (p.Ile565=)
c.472A= (p.Ile158=)
c.92-3775A= (n.92-3775A=)
2g.237381120T>ACA351217243COL6A3c.1074A>T (p.Glu358Asp)
c.1692A>T (p.Glu564Asp)
c.471A>T (p.Glu157Asp)
c.92-3776A>T (n.92-3776A>T)
2g.237381120T>CCA431712604COL6A3c.1074A>G (p.Glu358=)
c.1692A>G (p.Glu564=)
c.471A>G (p.Glu157=)
c.92-3776A>G (n.92-3776A>G)
2g.237381120T>GCA351217244COL6A3c.1074A>C (p.Glu358Asp)
c.1692A>C (p.Glu564Asp)
c.471A>C (p.Glu157Asp)
c.92-3776A>C (n.92-3776A>C)
2g.237381121T>ACA351217247COL6A3c.1073A>T (p.Glu358Val)
c.1691A>T (p.Glu564Val)
c.470A>T (p.Glu157Val)
c.92-3777A>T (n.92-3777A>T)
2g.237381121T>CCA351217245COL6A3c.1073A>G (p.Glu358Gly)
c.1691A>G (p.Glu564Gly)
c.470A>G (p.Glu157Gly)
c.92-3777A>G (n.92-3777A>G)
2g.237381121T>GCA351217246COL6A3c.1073A>C (p.Glu358Ala)
c.1691A>C (p.Glu564Ala)
c.470A>C (p.Glu157Ala)
c.92-3777A>C (n.92-3777A>C)
2g.237381122C>ACA351217248COL6A3c.1072G>T (p.Glu358Ter)
c.1690G>T (p.Glu564Ter)
c.469G>T (p.Glu157Ter)
c.92-3778G>T (n.92-3778G>T)
2g.237381122C>GCA351217249COL6A3c.1072G>C (p.Glu358Gln)
c.1690G>C (p.Glu564Gln)
c.469G>C (p.Glu157Gln)
c.92-3778G>C (n.92-3778G>C)
2g.237381122C>TCA351217250COL6A3c.1072G>A (p.Glu358Lys)
c.1690G>A (p.Glu564Lys)
c.469G>A (p.Glu157Lys)
c.92-3778G>A (n.92-3778G>A)
2g.237381123A=CA1337627266COL6A3c.1071T= (p.Asp357=)
c.1689T= (p.Asp563=)
c.468T= (p.Asp156=)
c.92-3779T= (n.92-3779T=)
2g.237381123A>CCA351217251COL6A3c.1071T>G (p.Asp357Glu)
c.1689T>G (p.Asp563Glu)
c.468T>G (p.Asp156Glu)
c.92-3779T>G (n.92-3779T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.237381123A>GCA431712605COL6A3c.1071T>C (p.Asp357=)
c.1689T>C (p.Asp563=)
c.468T>C (p.Asp156=)
c.92-3779T>C (n.92-3779T>C)
 ClinVar dbSNP
2g.237381123A>TCA351217252COL6A3c.1071T>A (p.Asp357Glu)
c.1689T>A (p.Asp563Glu)
c.468T>A (p.Asp156Glu)
c.92-3779T>A (n.92-3779T>A)
2g.237381124T>ACA351217253COL6A3c.1070A>T (p.Asp357Val)
c.1688A>T (p.Asp563Val)
c.467A>T (p.Asp156Val)
c.92-3780A>T (n.92-3780A>T)
 ClinVar gnomAD v4
2g.237381124T>CCA222588COL6A3c.1070A>G (p.Asp357Gly)
c.1688A>G (p.Asp563Gly)
c.467A>G (p.Asp156Gly)
c.92-3780A>G (n.92-3780A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381124T>GCA351217254COL6A3c.1070A>C (p.Asp357Ala)
c.1688A>C (p.Asp563Ala)
c.467A>C (p.Asp156Ala)
c.92-3780A>C (n.92-3780A>C)
2g.237381124T=CA1337627267COL6A3c.1070A= (p.Asp357=)
c.1688A= (p.Asp563=)
c.467A= (p.Asp156=)
c.92-3780A= (n.92-3780A=)
2g.237381125C>ACA351217255COL6A3c.1069G>T (p.Asp357Tyr)
c.1687G>T (p.Asp563Tyr)
c.466G>T (p.Asp156Tyr)
c.92-3781G>T (n.92-3781G>T)
 ClinVar
2g.237381125C>GCA351217257COL6A3c.1069G>C (p.Asp357His)
c.1687G>C (p.Asp563His)
c.466G>C (p.Asp156His)
c.92-3781G>C (n.92-3781G>C)
2g.237381125C>TCA351217256COL6A3c.1069G>A (p.Asp357Asn)
c.1687G>A (p.Asp563Asn)
c.466G>A (p.Asp156Asn)
c.92-3781G>A (n.92-3781G>A)
2g.237381126T>ACA431712608COL6A3c.1068A>T (p.Leu356=)
c.1686A>T (p.Leu562=)
c.465A>T (p.Leu155=)
c.92-3782A>T (n.92-3782A>T)
2g.237381126T>CCA431712606COL6A3c.1068A>G (p.Leu356=)
c.1686A>G (p.Leu562=)
c.465A>G (p.Leu155=)
c.92-3782A>G (n.92-3782A>G)
2g.237381126T>GCA431712607COL6A3c.1068A>C (p.Leu356=)
c.1686A>C (p.Leu562=)
c.465A>C (p.Leu155=)
c.92-3782A>C (n.92-3782A>C)
2g.237381127A>CCA351217258COL6A3c.1067T>G (p.Leu356Arg)
c.1685T>G (p.Leu562Arg)
c.464T>G (p.Leu155Arg)
c.92-3783T>G (n.92-3783T>G)
2g.237381127A>GCA351217260COL6A3c.1067T>C (p.Leu356Pro)
c.1685T>C (p.Leu562Pro)
c.464T>C (p.Leu155Pro)
c.92-3783T>C (n.92-3783T>C)
 gnomAD v4
2g.237381127A>TCA351217259COL6A3c.1067T>A (p.Leu356Gln)
c.1685T>A (p.Leu562Gln)
c.464T>A (p.Leu155Gln)
c.92-3783T>A (n.92-3783T>A)
2g.237381128G>ACA431712609COL6A3c.1066C>T (p.Leu356=)
c.1684C>T (p.Leu562=)
c.463C>T (p.Leu155=)
c.92-3784C>T (n.92-3784C>T)
 COSMIC COSMIC
2g.237381128G>CCA351217261COL6A3c.1066C>G (p.Leu356Val)
c.1684C>G (p.Leu562Val)
c.463C>G (p.Leu155Val)
c.92-3784C>G (n.92-3784C>G)
2g.237381128G>TCA351217262COL6A3c.1066C>A (p.Leu356Ile)
c.1684C>A (p.Leu562Ile)
c.463C>A (p.Leu155Ile)
c.92-3784C>A (n.92-3784C>A)
2g.237381129G>ACA431712610COL6A3c.1065C>T (p.Ser355=)
c.1683C>T (p.Ser561=)
c.462C>T (p.Ser154=)
c.92-3785C>T (n.92-3785C>T)
2g.237381129G>CCA431712611COL6A3c.1065C>G (p.Ser355=)
c.1683C>G (p.Ser561=)
c.462C>G (p.Ser154=)
c.92-3785C>G (n.92-3785C>G)
2g.237381129G>TCA431712612COL6A3c.1065C>A (p.Ser355=)
c.1683C>A (p.Ser561=)
c.462C>A (p.Ser154=)
c.92-3785C>A (n.92-3785C>A)
2g.237381130G>ACA351217263COL6A3c.1064C>T (p.Ser355Phe)
c.1682C>T (p.Ser561Phe)
c.461C>T (p.Ser154Phe)
c.92-3786C>T (n.92-3786C>T)
2g.237381130G>CCA351217264COL6A3c.1064C>G (p.Ser355Cys)
c.1682C>G (p.Ser561Cys)
c.461C>G (p.Ser154Cys)
c.92-3786C>G (n.92-3786C>G)
2g.237381130G>TCA351217265COL6A3c.1064C>A (p.Ser355Tyr)
c.1682C>A (p.Ser561Tyr)
c.461C>A (p.Ser154Tyr)
c.92-3786C>A (n.92-3786C>A)

Number of alleles fetched