Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237336153C>ACA351190921COL6A3c.1592G>T
c.8329G>T (p.Ala2777Ser)
c.1074G>T
n.1214G>T
c.8947G>T (p.Ala2983Ser)
c.7123G>T (p.Ala2375Ser)
c.7126G>T (p.Ala2376Ser)
n.5389G>T
c.8347G>T (p.Ala2783Ser)
c.7726G>T (p.Ala2576Ser)
c.8446G>T (p.Ala2816Ser)
c.8944G>T (p.Ala2982Ser)
c.6541G>T (p.Ala2181Ser)
2g.237336153C>GCA351190923COL6A3c.1592G>C
c.8329G>C (p.Ala2777Pro)
c.1074G>C
n.1214G>C
c.8947G>C (p.Ala2983Pro)
c.7123G>C (p.Ala2375Pro)
c.7126G>C (p.Ala2376Pro)
n.5389G>C
c.8347G>C (p.Ala2783Pro)
c.7726G>C (p.Ala2576Pro)
c.8446G>C (p.Ala2816Pro)
c.8944G>C (p.Ala2982Pro)
c.6541G>C (p.Ala2181Pro)
2g.237336153C>TCA351190925COL6A3c.1592G>A
c.8329G>A (p.Ala2777Thr)
c.1074G>A
n.1214G>A
c.8947G>A (p.Ala2983Thr)
c.7123G>A (p.Ala2375Thr)
c.7126G>A (p.Ala2376Thr)
n.5389G>A
c.8347G>A (p.Ala2783Thr)
c.7726G>A (p.Ala2576Thr)
c.8446G>A (p.Ala2816Thr)
c.8944G>A (p.Ala2982Thr)
c.6541G>A (p.Ala2181Thr)
2g.237336154T>ACA431698366COL6A3c.1591A>T
c.8328A>T (p.Pro2776=)
c.1073A>T
n.1213A>T
c.8946A>T (p.Pro2982=)
c.7122A>T (p.Pro2374=)
c.7125A>T (p.Pro2375=)
n.5388A>T
c.8346A>T (p.Pro2782=)
c.7725A>T (p.Pro2575=)
c.8445A>T (p.Pro2815=)
c.8943A>T (p.Pro2981=)
c.6540A>T (p.Pro2180=)
2g.237336154T>CCA431698368COL6A3c.1591A>G
c.8328A>G (p.Pro2776=)
c.1073A>G
n.1213A>G
c.8946A>G (p.Pro2982=)
c.7122A>G (p.Pro2374=)
c.7125A>G (p.Pro2375=)
n.5388A>G
c.8346A>G (p.Pro2782=)
c.7725A>G (p.Pro2575=)
c.8445A>G (p.Pro2815=)
c.8943A>G (p.Pro2981=)
c.6540A>G (p.Pro2180=)
2g.237336154T>GCA431698370COL6A3c.1591A>C
c.8328A>C (p.Pro2776=)
c.1073A>C
n.1213A>C
c.8946A>C (p.Pro2982=)
c.7122A>C (p.Pro2374=)
c.7125A>C (p.Pro2375=)
n.5388A>C
c.8346A>C (p.Pro2782=)
c.7725A>C (p.Pro2575=)
c.8445A>C (p.Pro2815=)
c.8943A>C (p.Pro2981=)
c.6540A>C (p.Pro2180=)
2g.237336155G>ACA351190927COL6A3c.1590C>T
c.8327C>T (p.Pro2776Leu)
c.1072C>T
n.1212C>T
c.8945C>T (p.Pro2982Leu)
c.7121C>T (p.Pro2374Leu)
c.7124C>T (p.Pro2375Leu)
n.5387C>T
c.8345C>T (p.Pro2782Leu)
c.7724C>T (p.Pro2575Leu)
c.8444C>T (p.Pro2815Leu)
c.8942C>T (p.Pro2981Leu)
c.6539C>T (p.Pro2180Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237336155G>CCA351190929COL6A3c.1590C>G
c.8327C>G (p.Pro2776Arg)
c.1072C>G
n.1212C>G
c.8945C>G (p.Pro2982Arg)
c.7121C>G (p.Pro2374Arg)
c.7124C>G (p.Pro2375Arg)
n.5387C>G
c.8345C>G (p.Pro2782Arg)
c.7724C>G (p.Pro2575Arg)
c.8444C>G (p.Pro2815Arg)
c.8942C>G (p.Pro2981Arg)
c.6539C>G (p.Pro2180Arg)
2g.237336155G=CA1337607054COL6A3c.1590C=
c.8327C= (p.Pro2776=)
c.1072C=
n.1212C=
c.8945C= (p.Pro2982=)
c.7121C= (p.Pro2374=)
c.7124C= (p.Pro2375=)
n.5387C=
c.8345C= (p.Pro2782=)
c.7724C= (p.Pro2575=)
c.8444C= (p.Pro2815=)
c.8942C= (p.Pro2981=)
c.6539C= (p.Pro2180=)
2g.237336155G>TCA351190931COL6A3c.1590C>A
c.8327C>A (p.Pro2776Gln)
c.1072C>A
n.1212C>A
c.8945C>A (p.Pro2982Gln)
c.7121C>A (p.Pro2374Gln)
c.7124C>A (p.Pro2375Gln)
n.5387C>A
c.8345C>A (p.Pro2782Gln)
c.7724C>A (p.Pro2575Gln)
c.8444C>A (p.Pro2815Gln)
c.8942C>A (p.Pro2981Gln)
c.6539C>A (p.Pro2180Gln)
 gnomAD v4
2g.237336156G>ACA351190935COL6A3c.1589C>T
c.8326C>T (p.Pro2776Ser)
c.1071C>T
n.1211C>T
c.8944C>T (p.Pro2982Ser)
c.7120C>T (p.Pro2374Ser)
c.7123C>T (p.Pro2375Ser)
n.5386C>T
c.8344C>T (p.Pro2782Ser)
c.7723C>T (p.Pro2575Ser)
c.8443C>T (p.Pro2815Ser)
c.8941C>T (p.Pro2981Ser)
c.6538C>T (p.Pro2180Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.237336156G>CCA351190937COL6A3c.1589C>G
c.8326C>G (p.Pro2776Ala)
c.1071C>G
n.1211C>G
c.8944C>G (p.Pro2982Ala)
c.7120C>G (p.Pro2374Ala)
c.7123C>G (p.Pro2375Ala)
n.5386C>G
c.8344C>G (p.Pro2782Ala)
c.7723C>G (p.Pro2575Ala)
c.8443C>G (p.Pro2815Ala)
c.8941C>G (p.Pro2981Ala)
c.6538C>G (p.Pro2180Ala)
 dbSNP
2g.237336156G=CA1337607055COL6A3c.1589C=
c.8326C= (p.Pro2776=)
c.1071C=
n.1211C=
c.8944C= (p.Pro2982=)
c.7120C= (p.Pro2374=)
c.7123C= (p.Pro2375=)
n.5386C=
c.8344C= (p.Pro2782=)
c.7723C= (p.Pro2575=)
c.8443C= (p.Pro2815=)
c.8941C= (p.Pro2981=)
c.6538C= (p.Pro2180=)
2g.237336156G>TCA351190934COL6A3c.1589C>A
c.8326C>A (p.Pro2776Thr)
c.1071C>A
n.1211C>A
c.8944C>A (p.Pro2982Thr)
c.7120C>A (p.Pro2374Thr)
c.7123C>A (p.Pro2375Thr)
n.5386C>A
c.8344C>A (p.Pro2782Thr)
c.7723C>A (p.Pro2575Thr)
c.8443C>A (p.Pro2815Thr)
c.8941C>A (p.Pro2981Thr)
c.6538C>A (p.Pro2180Thr)
2g.237336157C>ACA351190938COL6A3c.1588G>T
c.8325G>T (p.Lys2775Asn)
c.1070G>T
n.1210G>T
c.8943G>T (p.Lys2981Asn)
c.7119G>T (p.Lys2373Asn)
c.7122G>T (p.Lys2374Asn)
n.5385G>T
c.8343G>T (p.Lys2781Asn)
c.7722G>T (p.Lys2574Asn)
c.8442G>T (p.Lys2814Asn)
c.8940G>T (p.Lys2980Asn)
c.6537G>T (p.Lys2179Asn)
2g.237336157C>GCA351190940COL6A3c.1588G>C
c.8325G>C (p.Lys2775Asn)
c.1070G>C
n.1210G>C
c.8943G>C (p.Lys2981Asn)
c.7119G>C (p.Lys2373Asn)
c.7122G>C (p.Lys2374Asn)
n.5385G>C
c.8343G>C (p.Lys2781Asn)
c.7722G>C (p.Lys2574Asn)
c.8442G>C (p.Lys2814Asn)
c.8940G>C (p.Lys2980Asn)
c.6537G>C (p.Lys2179Asn)
2g.237336157C>TCA431698383COL6A3c.1588G>A
c.8325G>A (p.Lys2775=)
c.1070G>A
n.1210G>A
c.8943G>A (p.Lys2981=)
c.7119G>A (p.Lys2373=)
c.7122G>A (p.Lys2374=)
n.5385G>A
c.8343G>A (p.Lys2781=)
c.7722G>A (p.Lys2574=)
c.8442G>A (p.Lys2814=)
c.8940G>A (p.Lys2980=)
c.6537G>A (p.Lys2179=)
2g.237336158T>ACA351190943COL6A3c.1587A>T
c.8324A>T (p.Lys2775Met)
c.1069A>T
n.1209A>T
c.8942A>T (p.Lys2981Met)
c.7118A>T (p.Lys2373Met)
c.7121A>T (p.Lys2374Met)
n.5384A>T
c.8342A>T (p.Lys2781Met)
c.7721A>T (p.Lys2574Met)
c.8441A>T (p.Lys2814Met)
c.8939A>T (p.Lys2980Met)
c.6536A>T (p.Lys2179Met)
2g.237336158T>CCA351190944COL6A3c.1587A>G
c.8324A>G (p.Lys2775Arg)
c.1069A>G
n.1209A>G
c.8942A>G (p.Lys2981Arg)
c.7118A>G (p.Lys2373Arg)
c.7121A>G (p.Lys2374Arg)
n.5384A>G
c.8342A>G (p.Lys2781Arg)
c.7721A>G (p.Lys2574Arg)
c.8441A>G (p.Lys2814Arg)
c.8939A>G (p.Lys2980Arg)
c.6536A>G (p.Lys2179Arg)
2g.237336158T>GCA2187409COL6A3c.1587A>C
c.8324A>C (p.Lys2775Thr)
c.1069A>C
n.1209A>C
c.8942A>C (p.Lys2981Thr)
c.7118A>C (p.Lys2373Thr)
c.7121A>C (p.Lys2374Thr)
n.5384A>C
c.8342A>C (p.Lys2781Thr)
c.7721A>C (p.Lys2574Thr)
c.8441A>C (p.Lys2814Thr)
c.8939A>C (p.Lys2980Thr)
c.6536A>C (p.Lys2179Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336158T=CA1337607056COL6A3c.1587A=
c.8324A= (p.Lys2775=)
c.1069A=
n.1209A=
c.8942A= (p.Lys2981=)
c.7118A= (p.Lys2373=)
c.7121A= (p.Lys2374=)
n.5384A=
c.8342A= (p.Lys2781=)
c.7721A= (p.Lys2574=)
c.8441A= (p.Lys2814=)
c.8939A= (p.Lys2980=)
c.6536A= (p.Lys2179=)
2g.237336159T>ACA351190951COL6A3c.1586A>T
c.8323A>T (p.Lys2775Ter)
c.1068A>T
n.1208A>T
c.8941A>T (p.Lys2981Ter)
c.7117A>T (p.Lys2373Ter)
c.7120A>T (p.Lys2374Ter)
n.5383A>T
c.8341A>T (p.Lys2781Ter)
c.7720A>T (p.Lys2574Ter)
c.8440A>T (p.Lys2814Ter)
c.8938A>T (p.Lys2980Ter)
c.6535A>T (p.Lys2179Ter)
2g.237336159T>CCA351190949COL6A3c.1586A>G
c.8323A>G (p.Lys2775Glu)
c.1068A>G
n.1208A>G
c.8941A>G (p.Lys2981Glu)
c.7117A>G (p.Lys2373Glu)
c.7120A>G (p.Lys2374Glu)
n.5383A>G
c.8341A>G (p.Lys2781Glu)
c.7720A>G (p.Lys2574Glu)
c.8440A>G (p.Lys2814Glu)
c.8938A>G (p.Lys2980Glu)
c.6535A>G (p.Lys2179Glu)
 gnomAD v4
2g.237336159T>GCA351190948COL6A3c.1586A>C
c.8323A>C (p.Lys2775Gln)
c.1068A>C
n.1208A>C
c.8941A>C (p.Lys2981Gln)
c.7117A>C (p.Lys2373Gln)
c.7120A>C (p.Lys2374Gln)
n.5383A>C
c.8341A>C (p.Lys2781Gln)
c.7720A>C (p.Lys2574Gln)
c.8440A>C (p.Lys2814Gln)
c.8938A>C (p.Lys2980Gln)
c.6535A>C (p.Lys2179Gln)
2g.237336160G>ACA431698395COL6A3c.1585C>T
c.8322C>T (p.Thr2774=)
c.1067C>T
n.1207C>T
c.8940C>T (p.Thr2980=)
c.7116C>T (p.Thr2372=)
c.7119C>T (p.Thr2373=)
n.5382C>T
c.8340C>T (p.Thr2780=)
c.7719C>T (p.Thr2573=)
c.8439C>T (p.Thr2813=)
c.8937C>T (p.Thr2979=)
c.6534C>T (p.Thr2178=)
2g.237336160G>CCA431698397COL6A3c.1585C>G
c.8322C>G (p.Thr2774=)
c.1067C>G
n.1207C>G
c.8940C>G (p.Thr2980=)
c.7116C>G (p.Thr2372=)
c.7119C>G (p.Thr2373=)
n.5382C>G
c.8340C>G (p.Thr2780=)
c.7719C>G (p.Thr2573=)
c.8439C>G (p.Thr2813=)
c.8937C>G (p.Thr2979=)
c.6534C>G (p.Thr2178=)
 gnomAD v4
2g.237336160G>TCA431698399COL6A3c.1585C>A
c.8322C>A (p.Thr2774=)
c.1067C>A
n.1207C>A
c.8940C>A (p.Thr2980=)
c.7116C>A (p.Thr2372=)
c.7119C>A (p.Thr2373=)
n.5382C>A
c.8340C>A (p.Thr2780=)
c.7719C>A (p.Thr2573=)
c.8439C>A (p.Thr2813=)
c.8937C>A (p.Thr2979=)
c.6534C>A (p.Thr2178=)
2g.237336161delCA2663792155COL6A3c.1585del
c.8322del (p.Lys2775SerfsTer20)
c.1067del
n.1207del
c.8940del (p.Lys2981SerfsTer20)
c.7116del (p.Lys2373SerfsTer20)
c.7119del (p.Lys2374SerfsTer20)
n.5382del
c.8340del (p.Lys2781SerfsTer20)
c.7719del (p.Lys2574SerfsTer20)
c.8439del (p.Lys2814SerfsTer20)
c.8937del (p.Lys2980SerfsTer20)
c.6534del (p.Lys2179SerfsTer20)
 gnomAD v4
2g.237336161G>ACA351190953COL6A3c.1584C>T
c.8321C>T (p.Thr2774Ile)
c.1066C>T
n.1206C>T
c.8939C>T (p.Thr2980Ile)
c.7115C>T (p.Thr2372Ile)
c.7118C>T (p.Thr2373Ile)
n.5381C>T
c.8339C>T (p.Thr2780Ile)
c.7718C>T (p.Thr2573Ile)
c.8438C>T (p.Thr2813Ile)
c.8936C>T (p.Thr2979Ile)
c.6533C>T (p.Thr2178Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336161G>CCA351190955COL6A3c.1584C>G
c.8321C>G (p.Thr2774Ser)
c.1066C>G
n.1206C>G
c.8939C>G (p.Thr2980Ser)
c.7115C>G (p.Thr2372Ser)
c.7118C>G (p.Thr2373Ser)
n.5381C>G
c.8339C>G (p.Thr2780Ser)
c.7718C>G (p.Thr2573Ser)
c.8438C>G (p.Thr2813Ser)
c.8936C>G (p.Thr2979Ser)
c.6533C>G (p.Thr2178Ser)
2g.237336161G=CA1337607057COL6A3c.1584C=
c.8321C= (p.Thr2774=)
c.1066C=
n.1206C=
c.8939C= (p.Thr2980=)
c.7115C= (p.Thr2372=)
c.7118C= (p.Thr2373=)
n.5381C=
c.8339C= (p.Thr2780=)
c.7718C= (p.Thr2573=)
c.8438C= (p.Thr2813=)
c.8936C= (p.Thr2979=)
c.6533C= (p.Thr2178=)
2g.237336161G>TCA351190956COL6A3c.1584C>A
c.8321C>A (p.Thr2774Asn)
c.1066C>A
n.1206C>A
c.8939C>A (p.Thr2980Asn)
c.7115C>A (p.Thr2372Asn)
c.7118C>A (p.Thr2373Asn)
n.5381C>A
c.8339C>A (p.Thr2780Asn)
c.7718C>A (p.Thr2573Asn)
c.8438C>A (p.Thr2813Asn)
c.8936C>A (p.Thr2979Asn)
c.6533C>A (p.Thr2178Asn)
2g.237336162T>ACA351190959COL6A3c.1583A>T
c.8320A>T (p.Thr2774Ser)
c.1065A>T
n.1205A>T
c.8938A>T (p.Thr2980Ser)
c.7114A>T (p.Thr2372Ser)
c.7117A>T (p.Thr2373Ser)
n.5380A>T
c.8338A>T (p.Thr2780Ser)
c.7717A>T (p.Thr2573Ser)
c.8437A>T (p.Thr2813Ser)
c.8935A>T (p.Thr2979Ser)
c.6532A>T (p.Thr2178Ser)
2g.237336162T>CCA351190960COL6A3c.1583A>G
c.8320A>G (p.Thr2774Ala)
c.1065A>G
n.1205A>G
c.8938A>G (p.Thr2980Ala)
c.7114A>G (p.Thr2372Ala)
c.7117A>G (p.Thr2373Ala)
n.5380A>G
c.8338A>G (p.Thr2780Ala)
c.7717A>G (p.Thr2573Ala)
c.8437A>G (p.Thr2813Ala)
c.8935A>G (p.Thr2979Ala)
c.6532A>G (p.Thr2178Ala)
2g.237336162T>GCA351190961COL6A3c.1583A>C
c.8320A>C (p.Thr2774Pro)
c.1065A>C
n.1205A>C
c.8938A>C (p.Thr2980Pro)
c.7114A>C (p.Thr2372Pro)
c.7117A>C (p.Thr2373Pro)
n.5380A>C
c.8338A>C (p.Thr2780Pro)
c.7717A>C (p.Thr2573Pro)
c.8437A>C (p.Thr2813Pro)
c.8935A>C (p.Thr2979Pro)
c.6532A>C (p.Thr2178Pro)
 gnomAD v4
2g.237336163G>ACA67830327COL6A3c.1582C>T
c.8319C>T (p.Ala2773=)
c.1064C>T
n.1204C>T
c.8937C>T (p.Ala2979=)
c.7113C>T (p.Ala2371=)
c.7116C>T (p.Ala2372=)
n.5379C>T
c.8337C>T (p.Ala2779=)
c.7716C>T (p.Ala2572=)
c.8436C>T (p.Ala2812=)
c.8934C>T (p.Ala2978=)
c.6531C>T (p.Ala2177=)
 dbSNP gnomAD v3 gnomAD v4
2g.237336163G>CCA431698412COL6A3c.1582C>G
c.8319C>G (p.Ala2773=)
c.1064C>G
n.1204C>G
c.8937C>G (p.Ala2979=)
c.7113C>G (p.Ala2371=)
c.7116C>G (p.Ala2372=)
n.5379C>G
c.8337C>G (p.Ala2779=)
c.7716C>G (p.Ala2572=)
c.8436C>G (p.Ala2812=)
c.8934C>G (p.Ala2978=)
c.6531C>G (p.Ala2177=)
2g.237336163G=CA1337607058COL6A3c.1582C=
c.8319C= (p.Ala2773=)
c.1064C=
n.1204C=
c.8937C= (p.Ala2979=)
c.7113C= (p.Ala2371=)
c.7116C= (p.Ala2372=)
n.5379C=
c.8337C= (p.Ala2779=)
c.7716C= (p.Ala2572=)
c.8436C= (p.Ala2812=)
c.8934C= (p.Ala2978=)
c.6531C= (p.Ala2177=)
2g.237336163G>TCA431698414COL6A3c.1582C>A
c.8319C>A (p.Ala2773=)
c.1064C>A
n.1204C>A
c.8937C>A (p.Ala2979=)
c.7113C>A (p.Ala2371=)
c.7116C>A (p.Ala2372=)
n.5379C>A
c.8337C>A (p.Ala2779=)
c.7716C>A (p.Ala2572=)
c.8436C>A (p.Ala2812=)
c.8934C>A (p.Ala2978=)
c.6531C>A (p.Ala2177=)
2g.237336164G>ACA351190966COL6A3c.1581C>T
c.8318C>T (p.Ala2773Val)
c.1063C>T
n.1203C>T
c.8936C>T (p.Ala2979Val)
c.7112C>T (p.Ala2371Val)
c.7115C>T (p.Ala2372Val)
n.5378C>T
c.8336C>T (p.Ala2779Val)
c.7715C>T (p.Ala2572Val)
c.8435C>T (p.Ala2812Val)
c.8933C>T (p.Ala2978Val)
c.6530C>T (p.Ala2177Val)
2g.237336164G>CCA351190968COL6A3c.1581C>G
c.8318C>G (p.Ala2773Gly)
c.1063C>G
n.1203C>G
c.8936C>G (p.Ala2979Gly)
c.7112C>G (p.Ala2371Gly)
c.7115C>G (p.Ala2372Gly)
n.5378C>G
c.8336C>G (p.Ala2779Gly)
c.7715C>G (p.Ala2572Gly)
c.8435C>G (p.Ala2812Gly)
c.8933C>G (p.Ala2978Gly)
c.6530C>G (p.Ala2177Gly)
2g.237336164G>TCA351190965COL6A3c.1581C>A
c.8318C>A (p.Ala2773Asp)
c.1063C>A
n.1203C>A
c.8936C>A (p.Ala2979Asp)
c.7112C>A (p.Ala2371Asp)
c.7115C>A (p.Ala2372Asp)
n.5378C>A
c.8336C>A (p.Ala2779Asp)
c.7715C>A (p.Ala2572Asp)
c.8435C>A (p.Ala2812Asp)
c.8933C>A (p.Ala2978Asp)
c.6530C>A (p.Ala2177Asp)
2g.237336165C>ACA351190972COL6A3c.1580G>T
c.8317G>T (p.Ala2773Ser)
c.1062G>T
n.1202G>T
c.8935G>T (p.Ala2979Ser)
c.7111G>T (p.Ala2371Ser)
c.7114G>T (p.Ala2372Ser)
n.5377G>T
c.8335G>T (p.Ala2779Ser)
c.7714G>T (p.Ala2572Ser)
c.8434G>T (p.Ala2812Ser)
c.8932G>T (p.Ala2978Ser)
c.6529G>T (p.Ala2177Ser)
2g.237336165C=CA1337607059COL6A3c.1580G=
c.8317G= (p.Ala2773=)
c.1062G=
n.1202G=
c.8935G= (p.Ala2979=)
c.7111G= (p.Ala2371=)
c.7114G= (p.Ala2372=)
n.5377G=
c.8335G= (p.Ala2779=)
c.7714G= (p.Ala2572=)
c.8434G= (p.Ala2812=)
c.8932G= (p.Ala2978=)
c.6529G= (p.Ala2177=)
2g.237336165C>GCA351190971COL6A3c.1580G>C
c.8317G>C (p.Ala2773Pro)
c.1062G>C
n.1202G>C
c.8935G>C (p.Ala2979Pro)
c.7111G>C (p.Ala2371Pro)
c.7114G>C (p.Ala2372Pro)
n.5377G>C
c.8335G>C (p.Ala2779Pro)
c.7714G>C (p.Ala2572Pro)
c.8434G>C (p.Ala2812Pro)
c.8932G>C (p.Ala2978Pro)
c.6529G>C (p.Ala2177Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.237336165C>TCA351190974COL6A3c.1580G>A
c.8317G>A (p.Ala2773Thr)
c.1062G>A
n.1202G>A
c.8935G>A (p.Ala2979Thr)
c.7111G>A (p.Ala2371Thr)
c.7114G>A (p.Ala2372Thr)
n.5377G>A
c.8335G>A (p.Ala2779Thr)
c.7714G>A (p.Ala2572Thr)
c.8434G>A (p.Ala2812Thr)
c.8932G>A (p.Ala2978Thr)
c.6529G>A (p.Ala2177Thr)
 dbSNP
2g.237336166A>CCA431698430COL6A3c.1579T>G
c.8316T>G (p.Ala2772=)
c.1061T>G
n.1201T>G
c.8934T>G (p.Ala2978=)
c.7110T>G (p.Ala2370=)
c.7113T>G (p.Ala2371=)
n.5376T>G
c.8334T>G (p.Ala2778=)
c.7713T>G (p.Ala2571=)
c.8433T>G (p.Ala2811=)
c.8931T>G (p.Ala2977=)
c.6528T>G (p.Ala2176=)
2g.237336166A>GCA431698434COL6A3c.1579T>C
c.8316T>C (p.Ala2772=)
c.1061T>C
n.1201T>C
c.8934T>C (p.Ala2978=)
c.7110T>C (p.Ala2370=)
c.7113T>C (p.Ala2371=)
n.5376T>C
c.8334T>C (p.Ala2778=)
c.7713T>C (p.Ala2571=)
c.8433T>C (p.Ala2811=)
c.8931T>C (p.Ala2977=)
c.6528T>C (p.Ala2176=)
2g.237336166A>TCA431698431COL6A3c.1579T>A
c.8316T>A (p.Ala2772=)
c.1061T>A
n.1201T>A
c.8934T>A (p.Ala2978=)
c.7110T>A (p.Ala2370=)
c.7113T>A (p.Ala2371=)
n.5376T>A
c.8334T>A (p.Ala2778=)
c.7713T>A (p.Ala2571=)
c.8433T>A (p.Ala2811=)
c.8931T>A (p.Ala2977=)
c.6528T>A (p.Ala2176=)
2g.237336167G>ACA351190976COL6A3c.1578C>T
c.8315C>T (p.Ala2772Val)
c.1060C>T
n.1200C>T
c.8933C>T (p.Ala2978Val)
c.7109C>T (p.Ala2370Val)
c.7112C>T (p.Ala2371Val)
n.5375C>T
c.8333C>T (p.Ala2778Val)
c.7712C>T (p.Ala2571Val)
c.8432C>T (p.Ala2811Val)
c.8930C>T (p.Ala2977Val)
c.6527C>T (p.Ala2176Val)
2g.237336167G>CCA351190978COL6A3c.1578C>G
c.8315C>G (p.Ala2772Gly)
c.1060C>G
n.1200C>G
c.8933C>G (p.Ala2978Gly)
c.7109C>G (p.Ala2370Gly)
c.7112C>G (p.Ala2371Gly)
n.5375C>G
c.8333C>G (p.Ala2778Gly)
c.7712C>G (p.Ala2571Gly)
c.8432C>G (p.Ala2811Gly)
c.8930C>G (p.Ala2977Gly)
c.6527C>G (p.Ala2176Gly)
2g.237336167G>TCA351190980COL6A3c.1578C>A
c.8315C>A (p.Ala2772Asp)
c.1060C>A
n.1200C>A
c.8933C>A (p.Ala2978Asp)
c.7109C>A (p.Ala2370Asp)
c.7112C>A (p.Ala2371Asp)
n.5375C>A
c.8333C>A (p.Ala2778Asp)
c.7712C>A (p.Ala2571Asp)
c.8432C>A (p.Ala2811Asp)
c.8930C>A (p.Ala2977Asp)
c.6527C>A (p.Ala2176Asp)
2g.237336168C>ACA351190982COL6A3c.1577G>T
c.8314G>T (p.Ala2772Ser)
c.1059G>T
n.1199G>T
c.8932G>T (p.Ala2978Ser)
c.7108G>T (p.Ala2370Ser)
c.7111G>T (p.Ala2371Ser)
n.5374G>T
c.8332G>T (p.Ala2778Ser)
c.7711G>T (p.Ala2571Ser)
c.8431G>T (p.Ala2811Ser)
c.8929G>T (p.Ala2977Ser)
c.6526G>T (p.Ala2176Ser)
2g.237336168C=CA1337607060COL6A3c.1577G=
c.8314G= (p.Ala2772=)
c.1059G=
n.1199G=
c.8932G= (p.Ala2978=)
c.7108G= (p.Ala2370=)
c.7111G= (p.Ala2371=)
n.5374G=
c.8332G= (p.Ala2778=)
c.7711G= (p.Ala2571=)
c.8431G= (p.Ala2811=)
c.8929G= (p.Ala2977=)
c.6526G= (p.Ala2176=)
2g.237336168C>GCA351190984COL6A3c.1577G>C
c.8314G>C (p.Ala2772Pro)
c.1059G>C
n.1199G>C
c.8932G>C (p.Ala2978Pro)
c.7108G>C (p.Ala2370Pro)
c.7111G>C (p.Ala2371Pro)
n.5374G>C
c.8332G>C (p.Ala2778Pro)
c.7711G>C (p.Ala2571Pro)
c.8431G>C (p.Ala2811Pro)
c.8929G>C (p.Ala2977Pro)
c.6526G>C (p.Ala2176Pro)
2g.237336168C>TCA2187410COL6A3c.1577G>A
c.8314G>A (p.Ala2772Thr)
c.1059G>A
n.1199G>A
c.8932G>A (p.Ala2978Thr)
c.7108G>A (p.Ala2370Thr)
c.7111G>A (p.Ala2371Thr)
n.5374G>A
c.8332G>A (p.Ala2778Thr)
c.7711G>A (p.Ala2571Thr)
c.8431G>A (p.Ala2811Thr)
c.8929G>A (p.Ala2977Thr)
c.6526G>A (p.Ala2176Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336168_237336169delinsCTCA1337607061COL6A3c.1576_1577delinsAG
c.8313_8314delinsAG (p.Pro2771=)
c.1058_1059delinsAG
n.1198_1199delinsAG
c.8931_8932delinsAG (p.Pro2977=)
c.7107_7108delinsAG (p.Pro2369=)
c.7110_7111delinsAG (p.Pro2370=)
n.5373_5374delinsAG
c.8331_8332delinsAG (p.Pro2777=)
c.7710_7711delinsAG (p.Pro2570=)
c.8430_8431delinsAG (p.Pro2810=)
c.8928_8929delinsAG (p.Pro2976=)
c.6525_6526delinsAG (p.Pro2175=)
2g.237336169delCA658657257COL6A3c.1576del
c.8313del (p.Ala2772LeufsTer23)
c.1058del
n.1198del
c.8931del (p.Ala2978LeufsTer23)
c.7107del (p.Ala2370LeufsTer23)
c.7110del (p.Ala2371LeufsTer23)
n.5373del
c.8331del (p.Ala2778LeufsTer23)
c.7710del (p.Ala2571LeufsTer23)
c.8430del (p.Ala2811LeufsTer23)
c.8928del (p.Ala2977LeufsTer23)
c.6525del (p.Ala2176LeufsTer23)
 ClinVar dbSNP
2g.237336169T>ACA431698452COL6A3c.1576A>T
c.8313A>T (p.Pro2771=)
c.1058A>T
n.1198A>T
c.8931A>T (p.Pro2977=)
c.7107A>T (p.Pro2369=)
c.7110A>T (p.Pro2370=)
n.5373A>T
c.8331A>T (p.Pro2777=)
c.7710A>T (p.Pro2570=)
c.8430A>T (p.Pro2810=)
c.8928A>T (p.Pro2976=)
c.6525A>T (p.Pro2175=)
2g.237336169T>CCA2187411COL6A3c.1576A>G
c.8313A>G (p.Pro2771=)
c.1058A>G
n.1198A>G
c.8931A>G (p.Pro2977=)
c.7107A>G (p.Pro2369=)
c.7110A>G (p.Pro2370=)
n.5373A>G
c.8331A>G (p.Pro2777=)
c.7710A>G (p.Pro2570=)
c.8430A>G (p.Pro2810=)
c.8928A>G (p.Pro2976=)
c.6525A>G (p.Pro2175=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336169T>GCA431698449COL6A3c.1576A>C
c.8313A>C (p.Pro2771=)
c.1058A>C
n.1198A>C
c.8931A>C (p.Pro2977=)
c.7107A>C (p.Pro2369=)
c.7110A>C (p.Pro2370=)
n.5373A>C
c.8331A>C (p.Pro2777=)
c.7710A>C (p.Pro2570=)
c.8430A>C (p.Pro2810=)
c.8928A>C (p.Pro2976=)
c.6525A>C (p.Pro2175=)
2g.237336169T=CA1337607062COL6A3c.1576A=
c.8313A= (p.Pro2771=)
c.1058A=
n.1198A=
c.8931A= (p.Pro2977=)
c.7107A= (p.Pro2369=)
c.7110A= (p.Pro2370=)
n.5373A=
c.8331A= (p.Pro2777=)
c.7710A= (p.Pro2570=)
c.8430A= (p.Pro2810=)
c.8928A= (p.Pro2976=)
c.6525A= (p.Pro2175=)
2g.237336170G>ACA351190988COL6A3c.1575C>T
c.8312C>T (p.Pro2771Leu)
c.1057C>T
n.1197C>T
c.8930C>T (p.Pro2977Leu)
c.7106C>T (p.Pro2369Leu)
c.7109C>T (p.Pro2370Leu)
n.5372C>T
c.8330C>T (p.Pro2777Leu)
c.7709C>T (p.Pro2570Leu)
c.8429C>T (p.Pro2810Leu)
c.8927C>T (p.Pro2976Leu)
c.6524C>T (p.Pro2175Leu)
 ClinVar dbSNP gnomAD v4
2g.237336170G>CCA351190989COL6A3c.1575C>G
c.8312C>G (p.Pro2771Arg)
c.1057C>G
n.1197C>G
c.8930C>G (p.Pro2977Arg)
c.7106C>G (p.Pro2369Arg)
c.7109C>G (p.Pro2370Arg)
n.5372C>G
c.8330C>G (p.Pro2777Arg)
c.7709C>G (p.Pro2570Arg)
c.8429C>G (p.Pro2810Arg)
c.8927C>G (p.Pro2976Arg)
c.6524C>G (p.Pro2175Arg)
2g.237336170G=CA1337607063COL6A3c.1575C=
c.8312C= (p.Pro2771=)
c.1057C=
n.1197C=
c.8930C= (p.Pro2977=)
c.7106C= (p.Pro2369=)
c.7109C= (p.Pro2370=)
n.5372C=
c.8330C= (p.Pro2777=)
c.7709C= (p.Pro2570=)
c.8429C= (p.Pro2810=)
c.8927C= (p.Pro2976=)
c.6524C= (p.Pro2175=)
2g.237336170G>TCA351190991COL6A3c.1575C>A
c.8312C>A (p.Pro2771Gln)
c.1057C>A
n.1197C>A
c.8930C>A (p.Pro2977Gln)
c.7106C>A (p.Pro2369Gln)
c.7109C>A (p.Pro2370Gln)
n.5372C>A
c.8330C>A (p.Pro2777Gln)
c.7709C>A (p.Pro2570Gln)
c.8429C>A (p.Pro2810Gln)
c.8927C>A (p.Pro2976Gln)
c.6524C>A (p.Pro2175Gln)
 dbSNP
2g.237336171G>ACA351190994COL6A3c.1574C>T
c.8311C>T (p.Pro2771Ser)
c.1056C>T
n.1196C>T
c.8929C>T (p.Pro2977Ser)
c.7105C>T (p.Pro2369Ser)
c.7108C>T (p.Pro2370Ser)
n.5371C>T
c.8329C>T (p.Pro2777Ser)
c.7708C>T (p.Pro2570Ser)
c.8428C>T (p.Pro2810Ser)
c.8926C>T (p.Pro2976Ser)
c.6523C>T (p.Pro2175Ser)
 gnomAD v4
2g.237336171G>CCA351190995COL6A3c.1574C>G
c.8311C>G (p.Pro2771Ala)
c.1056C>G
n.1196C>G
c.8929C>G (p.Pro2977Ala)
c.7105C>G (p.Pro2369Ala)
c.7108C>G (p.Pro2370Ala)
n.5371C>G
c.8329C>G (p.Pro2777Ala)
c.7708C>G (p.Pro2570Ala)
c.8428C>G (p.Pro2810Ala)
c.8926C>G (p.Pro2976Ala)
c.6523C>G (p.Pro2175Ala)
2g.237336171G>TCA351190997COL6A3c.1574C>A
c.8311C>A (p.Pro2771Thr)
c.1056C>A
n.1196C>A
c.8929C>A (p.Pro2977Thr)
c.7105C>A (p.Pro2369Thr)
c.7108C>A (p.Pro2370Thr)
n.5371C>A
c.8329C>A (p.Pro2777Thr)
c.7708C>A (p.Pro2570Thr)
c.8428C>A (p.Pro2810Thr)
c.8926C>A (p.Pro2976Thr)
c.6523C>A (p.Pro2175Thr)
 gnomAD v4
2g.237336172T>ACA351190999COL6A3c.1573A>T
c.8310A>T (p.Lys2770Asn)
c.1055A>T
n.1195A>T
c.8928A>T (p.Lys2976Asn)
c.7104A>T (p.Lys2368Asn)
c.7107A>T (p.Lys2369Asn)
n.5370A>T
c.8328A>T (p.Lys2776Asn)
c.7707A>T (p.Lys2569Asn)
c.8427A>T (p.Lys2809Asn)
c.8925A>T (p.Lys2975Asn)
c.6522A>T (p.Lys2174Asn)
2g.237336172T>CCA431698462COL6A3c.1573A>G
c.8310A>G (p.Lys2770=)
c.1055A>G
n.1195A>G
c.8928A>G (p.Lys2976=)
c.7104A>G (p.Lys2368=)
c.7107A>G (p.Lys2369=)
n.5370A>G
c.8328A>G (p.Lys2776=)
c.7707A>G (p.Lys2569=)
c.8427A>G (p.Lys2809=)
c.8925A>G (p.Lys2975=)
c.6522A>G (p.Lys2174=)
2g.237336172T>GCA67830342COL6A3c.1573A>C
c.8310A>C (p.Lys2770Asn)
c.1055A>C
n.1195A>C
c.8928A>C (p.Lys2976Asn)
c.7104A>C (p.Lys2368Asn)
c.7107A>C (p.Lys2369Asn)
n.5370A>C
c.8328A>C (p.Lys2776Asn)
c.7707A>C (p.Lys2569Asn)
c.8427A>C (p.Lys2809Asn)
c.8925A>C (p.Lys2975Asn)
c.6522A>C (p.Lys2174Asn)
 dbSNP
2g.237336172T=CA1337607064COL6A3c.1573A=
c.8310A= (p.Lys2770=)
c.1055A=
n.1195A=
c.8928A= (p.Lys2976=)
c.7104A= (p.Lys2368=)
c.7107A= (p.Lys2369=)
n.5370A=
c.8328A= (p.Lys2776=)
c.7707A= (p.Lys2569=)
c.8427A= (p.Lys2809=)
c.8925A= (p.Lys2975=)
c.6522A= (p.Lys2174=)
2g.237336179_237336180insGCTTGGTGGCAGCTGCTTTGGCTGCA2739278491COL6A3c.1573_1574insGCAGCTGCCACCAAGCCAGCCAAA
c.8310_8311insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2770_Pro2771insAlaAlaAlaThrLysProAlaLys)
c.1055_1056insGCAGCTGCCACCAAGCCAGCCAAA
n.1195_1196insGCAGCTGCCACCAAGCCAGCCAAA
c.8928_8929insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2976_Pro2977insAlaAlaAlaThrLysProAlaLys)
c.7104_7105insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2368_Pro2369insAlaAlaAlaThrLysProAlaLys)
c.7107_7108insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2369_Pro2370insAlaAlaAlaThrLysProAlaLys)
n.5370_5371insGCAGCTGCCACCAAGCCAGCCAAA
c.8328_8329insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2776_Pro2777insAlaAlaAlaThrLysProAlaLys)
c.7707_7708insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2569_Pro2570insAlaAlaAlaThrLysProAlaLys)
c.8427_8428insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2809_Pro2810insAlaAlaAlaThrLysProAlaLys)
c.8925_8926insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2975_Pro2976insAlaAlaAlaThrLysProAlaLys)
c.6522_6523insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2174_Pro2175insAlaAlaAlaThrLysProAlaLys)
 ClinVar
2g.237336173T>ACA351191001COL6A3c.1572A>T
c.8309A>T (p.Lys2770Ile)
c.1054A>T
n.1194A>T
c.8927A>T (p.Lys2976Ile)
c.7103A>T (p.Lys2368Ile)
c.7106A>T (p.Lys2369Ile)
n.5369A>T
c.8327A>T (p.Lys2776Ile)
c.7706A>T (p.Lys2569Ile)
c.8426A>T (p.Lys2809Ile)
c.8924A>T (p.Lys2975Ile)
c.6521A>T (p.Lys2174Ile)
2g.237336173T>CCA351191003COL6A3c.1572A>G
c.8309A>G (p.Lys2770Arg)
c.1054A>G
n.1194A>G
c.8927A>G (p.Lys2976Arg)
c.7103A>G (p.Lys2368Arg)
c.7106A>G (p.Lys2369Arg)
n.5369A>G
c.8327A>G (p.Lys2776Arg)
c.7706A>G (p.Lys2569Arg)
c.8426A>G (p.Lys2809Arg)
c.8924A>G (p.Lys2975Arg)
c.6521A>G (p.Lys2174Arg)
2g.237336173T>GCA351191004COL6A3c.1572A>C
c.8309A>C (p.Lys2770Thr)
c.1054A>C
n.1194A>C
c.8927A>C (p.Lys2976Thr)
c.7103A>C (p.Lys2368Thr)
c.7106A>C (p.Lys2369Thr)
n.5369A>C
c.8327A>C (p.Lys2776Thr)
c.7706A>C (p.Lys2569Thr)
c.8426A>C (p.Lys2809Thr)
c.8924A>C (p.Lys2975Thr)
c.6521A>C (p.Lys2174Thr)
2g.237336174T>ACA351191007COL6A3c.1571A>T
c.8308A>T (p.Lys2770Ter)
c.1053A>T
n.1193A>T
c.8926A>T (p.Lys2976Ter)
c.7102A>T (p.Lys2368Ter)
c.7105A>T (p.Lys2369Ter)
n.5368A>T
c.8326A>T (p.Lys2776Ter)
c.7705A>T (p.Lys2569Ter)
c.8425A>T (p.Lys2809Ter)
c.8923A>T (p.Lys2975Ter)
c.6520A>T (p.Lys2174Ter)
2g.237336174T>CCA351191009COL6A3c.1571A>G
c.8308A>G (p.Lys2770Glu)
c.1053A>G
n.1193A>G
c.8926A>G (p.Lys2976Glu)
c.7102A>G (p.Lys2368Glu)
c.7105A>G (p.Lys2369Glu)
n.5368A>G
c.8326A>G (p.Lys2776Glu)
c.7705A>G (p.Lys2569Glu)
c.8425A>G (p.Lys2809Glu)
c.8923A>G (p.Lys2975Glu)
c.6520A>G (p.Lys2174Glu)
 gnomAD v4
2g.237336174T>GCA351191010COL6A3c.1571A>C
c.8308A>C (p.Lys2770Gln)
c.1053A>C
n.1193A>C
c.8926A>C (p.Lys2976Gln)
c.7102A>C (p.Lys2368Gln)
c.7105A>C (p.Lys2369Gln)
n.5368A>C
c.8326A>C (p.Lys2776Gln)
c.7705A>C (p.Lys2569Gln)
c.8425A>C (p.Lys2809Gln)
c.8923A>C (p.Lys2975Gln)
c.6520A>C (p.Lys2174Gln)
2g.237336175G>ACA431698478COL6A3c.1570C>T
c.8307C>T (p.Ala2769=)
c.1052C>T
n.1192C>T
c.8925C>T (p.Ala2975=)
c.7101C>T (p.Ala2367=)
c.7104C>T (p.Ala2368=)
n.5367C>T
c.8325C>T (p.Ala2775=)
c.7704C>T (p.Ala2568=)
c.8424C>T (p.Ala2808=)
c.8922C>T (p.Ala2974=)
c.6519C>T (p.Ala2173=)
2g.237336175G>CCA431698480COL6A3c.1570C>G
c.8307C>G (p.Ala2769=)
c.1052C>G
n.1192C>G
c.8925C>G (p.Ala2975=)
c.7101C>G (p.Ala2367=)
c.7104C>G (p.Ala2368=)
n.5367C>G
c.8325C>G (p.Ala2775=)
c.7704C>G (p.Ala2568=)
c.8424C>G (p.Ala2808=)
c.8922C>G (p.Ala2974=)
c.6519C>G (p.Ala2173=)
2g.237336175G>TCA431698483COL6A3c.1570C>A
c.8307C>A (p.Ala2769=)
c.1052C>A
n.1192C>A
c.8925C>A (p.Ala2975=)
c.7101C>A (p.Ala2367=)
c.7104C>A (p.Ala2368=)
n.5367C>A
c.8325C>A (p.Ala2775=)
c.7704C>A (p.Ala2568=)
c.8424C>A (p.Ala2808=)
c.8922C>A (p.Ala2974=)
c.6519C>A (p.Ala2173=)
2g.237336176G>ACA2187412COL6A3c.1569C>T
c.8306C>T (p.Ala2769Val)
c.1051C>T
n.1191C>T
c.8924C>T (p.Ala2975Val)
c.7100C>T (p.Ala2367Val)
c.7103C>T (p.Ala2368Val)
n.5366C>T
c.8324C>T (p.Ala2775Val)
c.7703C>T (p.Ala2568Val)
c.8423C>T (p.Ala2808Val)
c.8921C>T (p.Ala2974Val)
c.6518C>T (p.Ala2173Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336176G>CCA351191013COL6A3c.1569C>G
c.8306C>G (p.Ala2769Gly)
c.1051C>G
n.1191C>G
c.8924C>G (p.Ala2975Gly)
c.7100C>G (p.Ala2367Gly)
c.7103C>G (p.Ala2368Gly)
n.5366C>G
c.8324C>G (p.Ala2775Gly)
c.7703C>G (p.Ala2568Gly)
c.8423C>G (p.Ala2808Gly)
c.8921C>G (p.Ala2974Gly)
c.6518C>G (p.Ala2173Gly)
2g.237336176G=CA1337607065COL6A3c.1569C=
c.8306C= (p.Ala2769=)
c.1051C=
n.1191C=
c.8924C= (p.Ala2975=)
c.7100C= (p.Ala2367=)
c.7103C= (p.Ala2368=)
n.5366C=
c.8324C= (p.Ala2775=)
c.7703C= (p.Ala2568=)
c.8423C= (p.Ala2808=)
c.8921C= (p.Ala2974=)
c.6518C= (p.Ala2173=)
2g.237336176G>TCA351191015COL6A3c.1569C>A
c.8306C>A (p.Ala2769Asp)
c.1051C>A
n.1191C>A
c.8924C>A (p.Ala2975Asp)
c.7100C>A (p.Ala2367Asp)
c.7103C>A (p.Ala2368Asp)
n.5366C>A
c.8324C>A (p.Ala2775Asp)
c.7703C>A (p.Ala2568Asp)
c.8423C>A (p.Ala2808Asp)
c.8921C>A (p.Ala2974Asp)
c.6518C>A (p.Ala2173Asp)
2g.237336177C>ACA351191017COL6A3c.1568G>T
c.8305G>T (p.Ala2769Ser)
c.1050G>T
n.1190G>T
c.8923G>T (p.Ala2975Ser)
c.7099G>T (p.Ala2367Ser)
c.7102G>T (p.Ala2368Ser)
n.5365G>T
c.8323G>T (p.Ala2775Ser)
c.7702G>T (p.Ala2568Ser)
c.8422G>T (p.Ala2808Ser)
c.8920G>T (p.Ala2974Ser)
c.6517G>T (p.Ala2173Ser)
2g.237336177C>GCA351191018COL6A3c.1568G>C
c.8305G>C (p.Ala2769Pro)
c.1050G>C
n.1190G>C
c.8923G>C (p.Ala2975Pro)
c.7099G>C (p.Ala2367Pro)
c.7102G>C (p.Ala2368Pro)
n.5365G>C
c.8323G>C (p.Ala2775Pro)
c.7702G>C (p.Ala2568Pro)
c.8422G>C (p.Ala2808Pro)
c.8920G>C (p.Ala2974Pro)
c.6517G>C (p.Ala2173Pro)
2g.237336177C>TCA351191019COL6A3c.1568G>A
c.8305G>A (p.Ala2769Thr)
c.1050G>A
n.1190G>A
c.8923G>A (p.Ala2975Thr)
c.7099G>A (p.Ala2367Thr)
c.7102G>A (p.Ala2368Thr)
n.5365G>A
c.8323G>A (p.Ala2775Thr)
c.7702G>A (p.Ala2568Thr)
c.8422G>A (p.Ala2808Thr)
c.8920G>A (p.Ala2974Thr)
c.6517G>A (p.Ala2173Thr)
 gnomAD v4
2g.237336178T>ACA431698499COL6A3c.1567A>T
c.8304A>T (p.Ala2768=)
c.1049A>T
n.1189A>T
c.8922A>T (p.Ala2974=)
c.7098A>T (p.Ala2366=)
c.7101A>T (p.Ala2367=)
n.5364A>T
c.8322A>T (p.Ala2774=)
c.7701A>T (p.Ala2567=)
c.8421A>T (p.Ala2807=)
c.8919A>T (p.Ala2973=)
c.6516A>T (p.Ala2172=)
2g.237336178T>CCA431698503COL6A3c.1567A>G
c.8304A>G (p.Ala2768=)
c.1049A>G
n.1189A>G
c.8922A>G (p.Ala2974=)
c.7098A>G (p.Ala2366=)
c.7101A>G (p.Ala2367=)
n.5364A>G
c.8322A>G (p.Ala2774=)
c.7701A>G (p.Ala2567=)
c.8421A>G (p.Ala2807=)
c.8919A>G (p.Ala2973=)
c.6516A>G (p.Ala2172=)
 gnomAD v4
2g.237336178T>GCA431698502COL6A3c.1567A>C
c.8304A>C (p.Ala2768=)
c.1049A>C
n.1189A>C
c.8922A>C (p.Ala2974=)
c.7098A>C (p.Ala2366=)
c.7101A>C (p.Ala2367=)
n.5364A>C
c.8322A>C (p.Ala2774=)
c.7701A>C (p.Ala2567=)
c.8421A>C (p.Ala2807=)
c.8919A>C (p.Ala2973=)
c.6516A>C (p.Ala2172=)
2g.237336179G>ACA351191024COL6A3c.1566C>T
c.8303C>T (p.Ala2768Val)
c.1048C>T
n.1188C>T
c.8921C>T (p.Ala2974Val)
c.7097C>T (p.Ala2366Val)
c.7100C>T (p.Ala2367Val)
n.5363C>T
c.8321C>T (p.Ala2774Val)
c.7700C>T (p.Ala2567Val)
c.8420C>T (p.Ala2807Val)
c.8918C>T (p.Ala2973Val)
c.6515C>T (p.Ala2172Val)
2g.237336179G>CCA351191022COL6A3c.1566C>G
c.8303C>G (p.Ala2768Gly)
c.1048C>G
n.1188C>G
c.8921C>G (p.Ala2974Gly)
c.7097C>G (p.Ala2366Gly)
c.7100C>G (p.Ala2367Gly)
n.5363C>G
c.8321C>G (p.Ala2774Gly)
c.7700C>G (p.Ala2567Gly)
c.8420C>G (p.Ala2807Gly)
c.8918C>G (p.Ala2973Gly)
c.6515C>G (p.Ala2172Gly)
 dbSNP
2g.237336179G=CA1337607066COL6A3c.1566C=
c.8303C= (p.Ala2768=)
c.1048C=
n.1188C=
c.8921C= (p.Ala2974=)
c.7097C= (p.Ala2366=)
c.7100C= (p.Ala2367=)
n.5363C=
c.8321C= (p.Ala2774=)
c.7700C= (p.Ala2567=)
c.8420C= (p.Ala2807=)
c.8918C= (p.Ala2973=)
c.6515C= (p.Ala2172=)
2g.237336179G>TCA351191021COL6A3c.1566C>A
c.8303C>A (p.Ala2768Glu)
c.1048C>A
n.1188C>A
c.8921C>A (p.Ala2974Glu)
c.7097C>A (p.Ala2366Glu)
c.7100C>A (p.Ala2367Glu)
n.5363C>A
c.8321C>A (p.Ala2774Glu)
c.7700C>A (p.Ala2567Glu)
c.8420C>A (p.Ala2807Glu)
c.8918C>A (p.Ala2973Glu)
c.6515C>A (p.Ala2172Glu)
 gnomAD v4
2g.237336180C>ACA351191026COL6A3c.1565G>T
c.8302G>T (p.Ala2768Ser)
c.1047G>T
n.1187G>T
c.8920G>T (p.Ala2974Ser)
c.7096G>T (p.Ala2366Ser)
c.7099G>T (p.Ala2367Ser)
n.5362G>T
c.8320G>T (p.Ala2774Ser)
c.7699G>T (p.Ala2567Ser)
c.8419G>T (p.Ala2807Ser)
c.8917G>T (p.Ala2973Ser)
c.6514G>T (p.Ala2172Ser)
2g.237336180C=CA1337607067COL6A3c.1565G=
c.8302G= (p.Ala2768=)
c.1047G=
n.1187G=
c.8920G= (p.Ala2974=)
c.7096G= (p.Ala2366=)
c.7099G= (p.Ala2367=)
n.5362G=
c.8320G= (p.Ala2774=)
c.7699G= (p.Ala2567=)
c.8419G= (p.Ala2807=)
c.8917G= (p.Ala2973=)
c.6514G= (p.Ala2172=)
2g.237336180C>GCA351191028COL6A3c.1565G>C
c.8302G>C (p.Ala2768Pro)
c.1047G>C
n.1187G>C
c.8920G>C (p.Ala2974Pro)
c.7096G>C (p.Ala2366Pro)
c.7099G>C (p.Ala2367Pro)
n.5362G>C
c.8320G>C (p.Ala2774Pro)
c.7699G>C (p.Ala2567Pro)
c.8419G>C (p.Ala2807Pro)
c.8917G>C (p.Ala2973Pro)
c.6514G>C (p.Ala2172Pro)
2g.237336180C>TCA295320COL6A3c.1565G>A
c.8302G>A (p.Ala2768Thr)
c.1047G>A
n.1187G>A
c.8920G>A (p.Ala2974Thr)
c.7096G>A (p.Ala2366Thr)
c.7099G>A (p.Ala2367Thr)
n.5362G>A
c.8320G>A (p.Ala2774Thr)
c.7699G>A (p.Ala2567Thr)
c.8419G>A (p.Ala2807Thr)
c.8917G>A (p.Ala2973Thr)
c.6514G>A (p.Ala2172Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336181C>ACA351191030COL6A3c.1564G>T
c.8301G>T (p.Gln2767His)
c.1046G>T
n.1186G>T
c.8919G>T (p.Gln2973His)
c.7095G>T (p.Gln2365His)
c.7098G>T (p.Gln2366His)
n.5361G>T
c.8319G>T (p.Gln2773His)
c.7698G>T (p.Gln2566His)
c.8418G>T (p.Gln2806His)
c.8916G>T (p.Gln2972His)
c.6513G>T (p.Gln2171His)
 gnomAD v4
2g.237336181C>GCA351191031COL6A3c.1564G>C
c.8301G>C (p.Gln2767His)
c.1046G>C
n.1186G>C
c.8919G>C (p.Gln2973His)
c.7095G>C (p.Gln2365His)
c.7098G>C (p.Gln2366His)
n.5361G>C
c.8319G>C (p.Gln2773His)
c.7698G>C (p.Gln2566His)
c.8418G>C (p.Gln2806His)
c.8916G>C (p.Gln2972His)
c.6513G>C (p.Gln2171His)
2g.237336181C>TCA431698521COL6A3c.1564G>A
c.8301G>A (p.Gln2767=)
c.1046G>A
n.1186G>A
c.8919G>A (p.Gln2973=)
c.7095G>A (p.Gln2365=)
c.7098G>A (p.Gln2366=)
n.5361G>A
c.8319G>A (p.Gln2773=)
c.7698G>A (p.Gln2566=)
c.8418G>A (p.Gln2806=)
c.8916G>A (p.Gln2972=)
c.6513G>A (p.Gln2171=)
2g.237336182T>ACA351191037COL6A3c.1563A>T
c.8300A>T (p.Gln2767Leu)
c.1045A>T
n.1185A>T
c.8918A>T (p.Gln2973Leu)
c.7094A>T (p.Gln2365Leu)
c.7097A>T (p.Gln2366Leu)
n.5360A>T
c.8318A>T (p.Gln2773Leu)
c.7697A>T (p.Gln2566Leu)
c.8417A>T (p.Gln2806Leu)
c.8915A>T (p.Gln2972Leu)
c.6512A>T (p.Gln2171Leu)
2g.237336182T>CCA351191035COL6A3c.1563A>G
c.8300A>G (p.Gln2767Arg)
c.1045A>G
n.1185A>G
c.8918A>G (p.Gln2973Arg)
c.7094A>G (p.Gln2365Arg)
c.7097A>G (p.Gln2366Arg)
n.5360A>G
c.8318A>G (p.Gln2773Arg)
c.7697A>G (p.Gln2566Arg)
c.8417A>G (p.Gln2806Arg)
c.8915A>G (p.Gln2972Arg)
c.6512A>G (p.Gln2171Arg)
2g.237336182T>GCA351191034COL6A3c.1563A>C
c.8300A>C (p.Gln2767Pro)
c.1045A>C
n.1185A>C
c.8918A>C (p.Gln2973Pro)
c.7094A>C (p.Gln2365Pro)
c.7097A>C (p.Gln2366Pro)
n.5360A>C
c.8318A>C (p.Gln2773Pro)
c.7697A>C (p.Gln2566Pro)
c.8417A>C (p.Gln2806Pro)
c.8915A>C (p.Gln2972Pro)
c.6512A>C (p.Gln2171Pro)
2g.237336183G>ACA351191039COL6A3c.1562C>T
c.8299C>T (p.Gln2767Ter)
c.1044C>T
n.1184C>T
c.8917C>T (p.Gln2973Ter)
c.7093C>T (p.Gln2365Ter)
c.7096C>T (p.Gln2366Ter)
n.5359C>T
c.8317C>T (p.Gln2773Ter)
c.7696C>T (p.Gln2566Ter)
c.8416C>T (p.Gln2806Ter)
c.8914C>T (p.Gln2972Ter)
c.6511C>T (p.Gln2171Ter)
2g.237336183G>CCA351191041COL6A3c.1562C>G
c.8299C>G (p.Gln2767Glu)
c.1044C>G
n.1184C>G
c.8917C>G (p.Gln2973Glu)
c.7093C>G (p.Gln2365Glu)
c.7096C>G (p.Gln2366Glu)
n.5359C>G
c.8317C>G (p.Gln2773Glu)
c.7696C>G (p.Gln2566Glu)
c.8416C>G (p.Gln2806Glu)
c.8914C>G (p.Gln2972Glu)
c.6511C>G (p.Gln2171Glu)
2g.237336183G>TCA351191043COL6A3c.1562C>A
c.8299C>A (p.Gln2767Lys)
c.1044C>A
n.1184C>A
c.8917C>A (p.Gln2973Lys)
c.7093C>A (p.Gln2365Lys)
c.7096C>A (p.Gln2366Lys)
n.5359C>A
c.8317C>A (p.Gln2773Lys)
c.7696C>A (p.Gln2566Lys)
c.8416C>A (p.Gln2806Lys)
c.8914C>A (p.Gln2972Lys)
c.6511C>A (p.Gln2171Lys)
2g.237336184T>ACA431698535COL6A3c.1561A>T
c.8298A>T (p.Pro2766=)
c.1043A>T
n.1183A>T
c.8916A>T (p.Pro2972=)
c.7092A>T (p.Pro2364=)
c.7095A>T (p.Pro2365=)
n.5358A>T
c.8316A>T (p.Pro2772=)
c.7695A>T (p.Pro2565=)
c.8415A>T (p.Pro2805=)
c.8913A>T (p.Pro2971=)
c.6510A>T (p.Pro2170=)
2g.237336184T>CCA67830365COL6A3c.1561A>G
c.8298A>G (p.Pro2766=)
c.1043A>G
n.1183A>G
c.8916A>G (p.Pro2972=)
c.7092A>G (p.Pro2364=)
c.7095A>G (p.Pro2365=)
n.5358A>G
c.8316A>G (p.Pro2772=)
c.7695A>G (p.Pro2565=)
c.8415A>G (p.Pro2805=)
c.8913A>G (p.Pro2971=)
c.6510A>G (p.Pro2170=)
 dbSNP
2g.237336184T>GCA431698539COL6A3c.1561A>C
c.8298A>C (p.Pro2766=)
c.1043A>C
n.1183A>C
c.8916A>C (p.Pro2972=)
c.7092A>C (p.Pro2364=)
c.7095A>C (p.Pro2365=)
n.5358A>C
c.8316A>C (p.Pro2772=)
c.7695A>C (p.Pro2565=)
c.8415A>C (p.Pro2805=)
c.8913A>C (p.Pro2971=)
c.6510A>C (p.Pro2170=)
2g.237336184T=CA1337607068COL6A3c.1561A=
c.8298A= (p.Pro2766=)
c.1043A=
n.1183A=
c.8916A= (p.Pro2972=)
c.7092A= (p.Pro2364=)
c.7095A= (p.Pro2365=)
n.5358A=
c.8316A= (p.Pro2772=)
c.7695A= (p.Pro2565=)
c.8415A= (p.Pro2805=)
c.8913A= (p.Pro2971=)
c.6510A= (p.Pro2170=)
2g.237336185G>ACA351191048COL6A3c.1560C>T
c.8297C>T (p.Pro2766Leu)
c.1042C>T
n.1182C>T
c.8915C>T (p.Pro2972Leu)
c.7091C>T (p.Pro2364Leu)
c.7094C>T (p.Pro2365Leu)
n.5357C>T
c.8315C>T (p.Pro2772Leu)
c.7694C>T (p.Pro2565Leu)
c.8414C>T (p.Pro2805Leu)
c.8912C>T (p.Pro2971Leu)
c.6509C>T (p.Pro2170Leu)
2g.237336185G>CCA351191049COL6A3c.1560C>G
c.8297C>G (p.Pro2766Arg)
c.1042C>G
n.1182C>G
c.8915C>G (p.Pro2972Arg)
c.7091C>G (p.Pro2364Arg)
c.7094C>G (p.Pro2365Arg)
n.5357C>G
c.8315C>G (p.Pro2772Arg)
c.7694C>G (p.Pro2565Arg)
c.8414C>G (p.Pro2805Arg)
c.8912C>G (p.Pro2971Arg)
c.6509C>G (p.Pro2170Arg)
2g.237336185G>TCA351191051COL6A3c.1560C>A
c.8297C>A (p.Pro2766Gln)
c.1042C>A
n.1182C>A
c.8915C>A (p.Pro2972Gln)
c.7091C>A (p.Pro2364Gln)
c.7094C>A (p.Pro2365Gln)
n.5357C>A
c.8315C>A (p.Pro2772Gln)
c.7694C>A (p.Pro2565Gln)
c.8414C>A (p.Pro2805Gln)
c.8912C>A (p.Pro2971Gln)
c.6509C>A (p.Pro2170Gln)
2g.237336186G>ACA351191054COL6A3c.1559C>T
c.8296C>T (p.Pro2766Ser)
c.1041C>T
n.1181C>T
c.8914C>T (p.Pro2972Ser)
c.7090C>T (p.Pro2364Ser)
c.7093C>T (p.Pro2365Ser)
n.5356C>T
c.8314C>T (p.Pro2772Ser)
c.7693C>T (p.Pro2565Ser)
c.8413C>T (p.Pro2805Ser)
c.8911C>T (p.Pro2971Ser)
c.6508C>T (p.Pro2170Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.237336186G>CCA351191057COL6A3c.1559C>G
c.8296C>G (p.Pro2766Ala)
c.1041C>G
n.1181C>G
c.8914C>G (p.Pro2972Ala)
c.7090C>G (p.Pro2364Ala)
c.7093C>G (p.Pro2365Ala)
n.5356C>G
c.8314C>G (p.Pro2772Ala)
c.7693C>G (p.Pro2565Ala)
c.8413C>G (p.Pro2805Ala)
c.8911C>G (p.Pro2971Ala)
c.6508C>G (p.Pro2170Ala)
2g.237336186G=CA1337607069COL6A3c.1559C=
c.8296C= (p.Pro2766=)
c.1041C=
n.1181C=
c.8914C= (p.Pro2972=)
c.7090C= (p.Pro2364=)
c.7093C= (p.Pro2365=)
n.5356C=
c.8314C= (p.Pro2772=)
c.7693C= (p.Pro2565=)
c.8413C= (p.Pro2805=)
c.8911C= (p.Pro2971=)
c.6508C= (p.Pro2170=)
2g.237336186G>TCA351191055COL6A3c.1559C>A
c.8296C>A (p.Pro2766Thr)
c.1041C>A
n.1181C>A
c.8914C>A (p.Pro2972Thr)
c.7090C>A (p.Pro2364Thr)
c.7093C>A (p.Pro2365Thr)
n.5356C>A
c.8314C>A (p.Pro2772Thr)
c.7693C>A (p.Pro2565Thr)
c.8413C>A (p.Pro2805Thr)
c.8911C>A (p.Pro2971Thr)
c.6508C>A (p.Pro2170Thr)
2g.237336187C>ACA351191059COL6A3c.1558G>T
c.8295G>T (p.Arg2765Ser)
c.1040G>T
n.1180G>T
c.8913G>T (p.Arg2971Ser)
c.7089G>T (p.Arg2363Ser)
c.7092G>T (p.Arg2364Ser)
n.5355G>T
c.8313G>T (p.Arg2771Ser)
c.7692G>T (p.Arg2564Ser)
c.8412G>T (p.Arg2804Ser)
c.8910G>T (p.Arg2970Ser)
c.6507G>T (p.Arg2169Ser)
2g.237336187C>GCA351191061COL6A3c.1558G>C
c.8295G>C (p.Arg2765Ser)
c.1040G>C
n.1180G>C
c.8913G>C (p.Arg2971Ser)
c.7089G>C (p.Arg2363Ser)
c.7092G>C (p.Arg2364Ser)
n.5355G>C
c.8313G>C (p.Arg2771Ser)
c.7692G>C (p.Arg2564Ser)
c.8412G>C (p.Arg2804Ser)
c.8910G>C (p.Arg2970Ser)
c.6507G>C (p.Arg2169Ser)
2g.237336187C>TCA431698557COL6A3c.1558G>A
c.8295G>A (p.Arg2765=)
c.1040G>A
n.1180G>A
c.8913G>A (p.Arg2971=)
c.7089G>A (p.Arg2363=)
c.7092G>A (p.Arg2364=)
n.5355G>A
c.8313G>A (p.Arg2771=)
c.7692G>A (p.Arg2564=)
c.8412G>A (p.Arg2804=)
c.8910G>A (p.Arg2970=)
c.6507G>A (p.Arg2169=)
2g.237336188C>ACA351191063COL6A3c.1557G>T
c.8294G>T (p.Arg2765Met)
c.1039G>T
n.1179G>T
c.8912G>T (p.Arg2971Met)
c.7088G>T (p.Arg2363Met)
c.7091G>T (p.Arg2364Met)
n.5354G>T
c.8312G>T (p.Arg2771Met)
c.7691G>T (p.Arg2564Met)
c.8411G>T (p.Arg2804Met)
c.8909G>T (p.Arg2970Met)
c.6506G>T (p.Arg2169Met)
2g.237336188C=CA1337607070COL6A3c.1557G=
c.8294G= (p.Arg2765=)
c.1039G=
n.1179G=
c.8912G= (p.Arg2971=)
c.7088G= (p.Arg2363=)
c.7091G= (p.Arg2364=)
n.5354G=
c.8312G= (p.Arg2771=)
c.7691G= (p.Arg2564=)
c.8411G= (p.Arg2804=)
c.8909G= (p.Arg2970=)
c.6506G= (p.Arg2169=)
2g.237336188C>GCA351191064COL6A3c.1557G>C
c.8294G>C (p.Arg2765Thr)
c.1039G>C
n.1179G>C
c.8912G>C (p.Arg2971Thr)
c.7088G>C (p.Arg2363Thr)
c.7091G>C (p.Arg2364Thr)
n.5354G>C
c.8312G>C (p.Arg2771Thr)
c.7691G>C (p.Arg2564Thr)
c.8411G>C (p.Arg2804Thr)
c.8909G>C (p.Arg2970Thr)
c.6506G>C (p.Arg2169Thr)
 gnomAD v4
2g.237336188C>TCA2187413COL6A3c.1557G>A
c.8294G>A (p.Arg2765Lys)
c.1039G>A
n.1179G>A
c.8912G>A (p.Arg2971Lys)
c.7088G>A (p.Arg2363Lys)
c.7091G>A (p.Arg2364Lys)
n.5354G>A
c.8312G>A (p.Arg2771Lys)
c.7691G>A (p.Arg2564Lys)
c.8411G>A (p.Arg2804Lys)
c.8909G>A (p.Arg2970Lys)
c.6506G>A (p.Arg2169Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336189T>ACA351191067COL6A3c.1556A>T
c.8293A>T (p.Arg2765Trp)
c.1038A>T
n.1178A>T
c.8911A>T (p.Arg2971Trp)
c.7087A>T (p.Arg2363Trp)
c.7090A>T (p.Arg2364Trp)
n.5353A>T
c.8311A>T (p.Arg2771Trp)
c.7690A>T (p.Arg2564Trp)
c.8410A>T (p.Arg2804Trp)
c.8908A>T (p.Arg2970Trp)
c.6505A>T (p.Arg2169Trp)
2g.237336189T>CCA351191068COL6A3c.1556A>G
c.8293A>G (p.Arg2765Gly)
c.1038A>G
n.1178A>G
c.8911A>G (p.Arg2971Gly)
c.7087A>G (p.Arg2363Gly)
c.7090A>G (p.Arg2364Gly)
n.5353A>G
c.8311A>G (p.Arg2771Gly)
c.7690A>G (p.Arg2564Gly)
c.8410A>G (p.Arg2804Gly)
c.8908A>G (p.Arg2970Gly)
c.6505A>G (p.Arg2169Gly)
2g.237336189T>GCA431698570COL6A3c.1556A>C
c.8293A>C (p.Arg2765=)
c.1038A>C
n.1178A>C
c.8911A>C (p.Arg2971=)
c.7087A>C (p.Arg2363=)
c.7090A>C (p.Arg2364=)
n.5353A>C
c.8311A>C (p.Arg2771=)
c.7690A>C (p.Arg2564=)
c.8410A>C (p.Arg2804=)
c.8908A>C (p.Arg2970=)
c.6505A>C (p.Arg2169=)
2g.237336190A>CCA431698581COL6A3c.1555T>G
c.8292T>G (p.Pro2764=)
c.1037T>G
n.1177T>G
c.8910T>G (p.Pro2970=)
c.7086T>G (p.Pro2362=)
c.7089T>G (p.Pro2363=)
n.5352T>G
c.8310T>G (p.Pro2770=)
c.7689T>G (p.Pro2563=)
c.8409T>G (p.Pro2803=)
c.8907T>G (p.Pro2969=)
c.6504T>G (p.Pro2168=)
2g.237336190A>GCA431698583COL6A3c.1555T>C
c.8292T>C (p.Pro2764=)
c.1037T>C
n.1177T>C
c.8910T>C (p.Pro2970=)
c.7086T>C (p.Pro2362=)
c.7089T>C (p.Pro2363=)
n.5352T>C
c.8310T>C (p.Pro2770=)
c.7689T>C (p.Pro2563=)
c.8409T>C (p.Pro2803=)
c.8907T>C (p.Pro2969=)
c.6504T>C (p.Pro2168=)
2g.237336190A>TCA431698582COL6A3c.1555T>A
c.8292T>A (p.Pro2764=)
c.1037T>A
n.1177T>A
c.8910T>A (p.Pro2970=)
c.7086T>A (p.Pro2362=)
c.7089T>A (p.Pro2363=)
n.5352T>A
c.8310T>A (p.Pro2770=)
c.7689T>A (p.Pro2563=)
c.8409T>A (p.Pro2803=)
c.8907T>A (p.Pro2969=)
c.6504T>A (p.Pro2168=)
2g.237336191G>ACA351191071COL6A3c.1554C>T
c.8291C>T (p.Pro2764Leu)
c.1036C>T
n.1176C>T
c.8909C>T (p.Pro2970Leu)
c.7085C>T (p.Pro2362Leu)
c.7088C>T (p.Pro2363Leu)
n.5351C>T
c.8309C>T (p.Pro2770Leu)
c.7688C>T (p.Pro2563Leu)
c.8408C>T (p.Pro2803Leu)
c.8906C>T (p.Pro2969Leu)
c.6503C>T (p.Pro2168Leu)
2g.237336191G>CCA351191072COL6A3c.1554C>G
c.8291C>G (p.Pro2764Arg)
c.1036C>G
n.1176C>G
c.8909C>G (p.Pro2970Arg)
c.7085C>G (p.Pro2362Arg)
c.7088C>G (p.Pro2363Arg)
n.5351C>G
c.8309C>G (p.Pro2770Arg)
c.7688C>G (p.Pro2563Arg)
c.8408C>G (p.Pro2803Arg)
c.8906C>G (p.Pro2969Arg)
c.6503C>G (p.Pro2168Arg)
2g.237336191G>TCA351191074COL6A3c.1554C>A
c.8291C>A (p.Pro2764His)
c.1036C>A
n.1176C>A
c.8909C>A (p.Pro2970His)
c.7085C>A (p.Pro2362His)
c.7088C>A (p.Pro2363His)
n.5351C>A
c.8309C>A (p.Pro2770His)
c.7688C>A (p.Pro2563His)
c.8408C>A (p.Pro2803His)
c.8906C>A (p.Pro2969His)
c.6503C>A (p.Pro2168His)
2g.237336192G>ACA351191079COL6A3c.1553C>T
c.8290C>T (p.Pro2764Ser)
c.1035C>T
n.1175C>T
c.8908C>T (p.Pro2970Ser)
c.7084C>T (p.Pro2362Ser)
c.7087C>T (p.Pro2363Ser)
n.5350C>T
c.8308C>T (p.Pro2770Ser)
c.7687C>T (p.Pro2563Ser)
c.8407C>T (p.Pro2803Ser)
c.8905C>T (p.Pro2969Ser)
c.6502C>T (p.Pro2168Ser)
2g.237336192G>CCA351191078COL6A3c.1553C>G
c.8290C>G (p.Pro2764Ala)
c.1035C>G
n.1175C>G
c.8908C>G (p.Pro2970Ala)
c.7084C>G (p.Pro2362Ala)
c.7087C>G (p.Pro2363Ala)
n.5350C>G
c.8308C>G (p.Pro2770Ala)
c.7687C>G (p.Pro2563Ala)
c.8407C>G (p.Pro2803Ala)
c.8905C>G (p.Pro2969Ala)
c.6502C>G (p.Pro2168Ala)
2g.237336192G>TCA351191076COL6A3c.1553C>A
c.8290C>A (p.Pro2764Thr)
c.1035C>A
n.1175C>A
c.8908C>A (p.Pro2970Thr)
c.7084C>A (p.Pro2362Thr)
c.7087C>A (p.Pro2363Thr)
n.5350C>A
c.8308C>A (p.Pro2770Thr)
c.7687C>A (p.Pro2563Thr)
c.8407C>A (p.Pro2803Thr)
c.8905C>A (p.Pro2969Thr)
c.6502C>A (p.Pro2168Thr)
2g.237336193G>ACA2187414COL6A3c.1552C>T
c.8289C>T (p.Val2763=)
c.1034C>T
n.1174C>T
c.8907C>T (p.Val2969=)
c.7083C>T (p.Val2361=)
c.7086C>T (p.Val2362=)
n.5349C>T
c.8307C>T (p.Val2769=)
c.7686C>T (p.Val2562=)
c.8406C>T (p.Val2802=)
c.8904C>T (p.Val2968=)
c.6501C>T (p.Val2167=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336193G>CCA431698585COL6A3c.1552C>G
c.8289C>G (p.Val2763=)
c.1034C>G
n.1174C>G
c.8907C>G (p.Val2969=)
c.7083C>G (p.Val2361=)
c.7086C>G (p.Val2362=)
n.5349C>G
c.8307C>G (p.Val2769=)
c.7686C>G (p.Val2562=)
c.8406C>G (p.Val2802=)
c.8904C>G (p.Val2968=)
c.6501C>G (p.Val2167=)
 gnomAD v4
2g.237336193G=CA1337607071COL6A3c.1552C=
c.8289C= (p.Val2763=)
c.1034C=
n.1174C=
c.8907C= (p.Val2969=)
c.7083C= (p.Val2361=)
c.7086C= (p.Val2362=)
n.5349C=
c.8307C= (p.Val2769=)
c.7686C= (p.Val2562=)
c.8406C= (p.Val2802=)
c.8904C= (p.Val2968=)
c.6501C= (p.Val2167=)
2g.237336193G>TCA431698587COL6A3c.1552C>A
c.8289C>A (p.Val2763=)
c.1034C>A
n.1174C>A
c.8907C>A (p.Val2969=)
c.7083C>A (p.Val2361=)
c.7086C>A (p.Val2362=)
n.5349C>A
c.8307C>A (p.Val2769=)
c.7686C>A (p.Val2562=)
c.8406C>A (p.Val2802=)
c.8904C>A (p.Val2968=)
c.6501C>A (p.Val2167=)
2g.237336193_237336197dupCA2754786721COL6A3c.1548_1552dup
c.8285_8289dup (p.Pro2764ArgfsTer?)
c.1030_1034dup
n.1170_1174dup
c.8903_8907dup (p.Pro2970ArgfsTer?)
c.7079_7083dup (p.Pro2362ArgfsTer?)
c.7082_7086dup (p.Pro2363ArgfsTer?)
n.5345_5349dup
c.8303_8307dup (p.Pro2770ArgfsTer?)
c.7682_7686dup (p.Pro2563ArgfsTer?)
c.8402_8406dup (p.Pro2803ArgfsTer?)
c.8900_8904dup (p.Pro2969ArgfsTer?)
c.6497_6501dup (p.Pro2168ArgfsTer?)
2g.237336194A>CCA351191083COL6A3c.1551T>G
c.8288T>G (p.Val2763Gly)
c.1033T>G
n.1173T>G
c.8906T>G (p.Val2969Gly)
c.7082T>G (p.Val2361Gly)
c.7085T>G (p.Val2362Gly)
n.5348T>G
c.8306T>G (p.Val2769Gly)
c.7685T>G (p.Val2562Gly)
c.8405T>G (p.Val2802Gly)
c.8903T>G (p.Val2968Gly)
c.6500T>G (p.Val2167Gly)
2g.237336194A>GCA351191085COL6A3c.1551T>C
c.8288T>C (p.Val2763Ala)
c.1033T>C
n.1173T>C
c.8906T>C (p.Val2969Ala)
c.7082T>C (p.Val2361Ala)
c.7085T>C (p.Val2362Ala)
n.5348T>C
c.8306T>C (p.Val2769Ala)
c.7685T>C (p.Val2562Ala)
c.8405T>C (p.Val2802Ala)
c.8903T>C (p.Val2968Ala)
c.6500T>C (p.Val2167Ala)
2g.237336194A>TCA351191086COL6A3c.1551T>A
c.8288T>A (p.Val2763Asp)
c.1033T>A
n.1173T>A
c.8906T>A (p.Val2969Asp)
c.7082T>A (p.Val2361Asp)
c.7085T>A (p.Val2362Asp)
n.5348T>A
c.8306T>A (p.Val2769Asp)
c.7685T>A (p.Val2562Asp)
c.8405T>A (p.Val2802Asp)
c.8903T>A (p.Val2968Asp)
c.6500T>A (p.Val2167Asp)
2g.237336195C>ACA351191088COL6A3c.1550G>T
c.8287G>T (p.Val2763Phe)
c.1032G>T
n.1172G>T
c.8905G>T (p.Val2969Phe)
c.7081G>T (p.Val2361Phe)
c.7084G>T (p.Val2362Phe)
n.5347G>T
c.8305G>T (p.Val2769Phe)
c.7684G>T (p.Val2562Phe)
c.8404G>T (p.Val2802Phe)
c.8902G>T (p.Val2968Phe)
c.6499G>T (p.Val2167Phe)
2g.237336195C>GCA351191090COL6A3c.1550G>C
c.8287G>C (p.Val2763Leu)
c.1032G>C
n.1172G>C
c.8905G>C (p.Val2969Leu)
c.7081G>C (p.Val2361Leu)
c.7084G>C (p.Val2362Leu)
n.5347G>C
c.8305G>C (p.Val2769Leu)
c.7684G>C (p.Val2562Leu)
c.8404G>C (p.Val2802Leu)
c.8902G>C (p.Val2968Leu)
c.6499G>C (p.Val2167Leu)
2g.237336195C>TCA351191091COL6A3c.1550G>A
c.8287G>A (p.Val2763Ile)
c.1032G>A
n.1172G>A
c.8905G>A (p.Val2969Ile)
c.7081G>A (p.Val2361Ile)
c.7084G>A (p.Val2362Ile)
n.5347G>A
c.8305G>A (p.Val2769Ile)
c.7684G>A (p.Val2562Ile)
c.8404G>A (p.Val2802Ile)
c.8902G>A (p.Val2968Ile)
c.6499G>A (p.Val2167Ile)
2g.237336196C>ACA351191095COL6A3c.1549G>T
c.8286G>T (p.Glu2762Asp)
c.1031G>T
n.1171G>T
c.8904G>T (p.Glu2968Asp)
c.7080G>T (p.Glu2360Asp)
c.7083G>T (p.Glu2361Asp)
n.5346G>T
c.8304G>T (p.Glu2768Asp)
c.7683G>T (p.Glu2561Asp)
c.8403G>T (p.Glu2801Asp)
c.8901G>T (p.Glu2967Asp)
c.6498G>T (p.Glu2166Asp)
 COSMIC
2g.237336196C>GCA351191093COL6A3c.1549G>C
c.8286G>C (p.Glu2762Asp)
c.1031G>C
n.1171G>C
c.8904G>C (p.Glu2968Asp)
c.7080G>C (p.Glu2360Asp)
c.7083G>C (p.Glu2361Asp)
n.5346G>C
c.8304G>C (p.Glu2768Asp)
c.7683G>C (p.Glu2561Asp)
c.8403G>C (p.Glu2801Asp)
c.8901G>C (p.Glu2967Asp)
c.6498G>C (p.Glu2166Asp)
2g.237336196C>TCA431700595COL6A3c.1549G>A
c.8286G>A (p.Glu2762=)
c.1031G>A
n.1171G>A
c.8904G>A (p.Glu2968=)
c.7080G>A (p.Glu2360=)
c.7083G>A (p.Glu2361=)
n.5346G>A
c.8304G>A (p.Glu2768=)
c.7683G>A (p.Glu2561=)
c.8403G>A (p.Glu2801=)
c.8901G>A (p.Glu2967=)
c.6498G>A (p.Glu2166=)
2g.237336197T>ACA351191097COL6A3c.1548A>T
c.8285A>T (p.Glu2762Val)
c.1030A>T
n.1170A>T
c.8903A>T (p.Glu2968Val)
c.7079A>T (p.Glu2360Val)
c.7082A>T (p.Glu2361Val)
n.5345A>T
c.8303A>T (p.Glu2768Val)
c.7682A>T (p.Glu2561Val)
c.8402A>T (p.Glu2801Val)
c.8900A>T (p.Glu2967Val)
c.6497A>T (p.Glu2166Val)
2g.237336197T>CCA351191099COL6A3c.1548A>G
c.8285A>G (p.Glu2762Gly)
c.1030A>G
n.1170A>G
c.8903A>G (p.Glu2968Gly)
c.7079A>G (p.Glu2360Gly)
c.7082A>G (p.Glu2361Gly)
n.5345A>G
c.8303A>G (p.Glu2768Gly)
c.7682A>G (p.Glu2561Gly)
c.8402A>G (p.Glu2801Gly)
c.8900A>G (p.Glu2967Gly)
c.6497A>G (p.Glu2166Gly)
2g.237336197T>GCA2187415COL6A3c.1548A>C
c.8285A>C (p.Glu2762Ala)
c.1030A>C
n.1170A>C
c.8903A>C (p.Glu2968Ala)
c.7079A>C (p.Glu2360Ala)
c.7082A>C (p.Glu2361Ala)
n.5345A>C
c.8303A>C (p.Glu2768Ala)
c.7682A>C (p.Glu2561Ala)
c.8402A>C (p.Glu2801Ala)
c.8900A>C (p.Glu2967Ala)
c.6497A>C (p.Glu2166Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336197T=CA1337607072COL6A3c.1548A=
c.8285A= (p.Glu2762=)
c.1030A=
n.1170A=
c.8903A= (p.Glu2968=)
c.7079A= (p.Glu2360=)
c.7082A= (p.Glu2361=)
n.5345A=
c.8303A= (p.Glu2768=)
c.7682A= (p.Glu2561=)
c.8402A= (p.Glu2801=)
c.8900A= (p.Glu2967=)
c.6497A= (p.Glu2166=)
2g.237336198C>ACA351191103COL6A3c.1547G>T
c.8284G>T (p.Glu2762Ter)
c.1029G>T
n.1169G>T
c.8902G>T (p.Glu2968Ter)
c.7078G>T (p.Glu2360Ter)
c.7081G>T (p.Glu2361Ter)
n.5344G>T
c.8302G>T (p.Glu2768Ter)
c.7681G>T (p.Glu2561Ter)
c.8401G>T (p.Glu2801Ter)
c.8899G>T (p.Glu2967Ter)
c.6496G>T (p.Glu2166Ter)
2g.237336198C>GCA351191105COL6A3c.1547G>C
c.8284G>C (p.Glu2762Gln)
c.1029G>C
n.1169G>C
c.8902G>C (p.Glu2968Gln)
c.7078G>C (p.Glu2360Gln)
c.7081G>C (p.Glu2361Gln)
n.5344G>C
c.8302G>C (p.Glu2768Gln)
c.7681G>C (p.Glu2561Gln)
c.8401G>C (p.Glu2801Gln)
c.8899G>C (p.Glu2967Gln)
c.6496G>C (p.Glu2166Gln)
2g.237336198C>TCA351191106COL6A3c.1547G>A
c.8284G>A (p.Glu2762Lys)
c.1029G>A
n.1169G>A
c.8902G>A (p.Glu2968Lys)
c.7078G>A (p.Glu2360Lys)
c.7081G>A (p.Glu2361Lys)
n.5344G>A
c.8302G>A (p.Glu2768Lys)
c.7681G>A (p.Glu2561Lys)
c.8401G>A (p.Glu2801Lys)
c.8899G>A (p.Glu2967Lys)
c.6496G>A (p.Glu2166Lys)
2g.237336199A>CCA431700613COL6A3c.1546T>G
c.8283T>G (p.Pro2761=)
c.1028T>G
n.1168T>G
c.8901T>G (p.Pro2967=)
c.7077T>G (p.Pro2359=)
c.7080T>G (p.Pro2360=)
n.5343T>G
c.8301T>G (p.Pro2767=)
c.7680T>G (p.Pro2560=)
c.8400T>G (p.Pro2800=)
c.8898T>G (p.Pro2966=)
c.6495T>G (p.Pro2165=)
2g.237336199A>GCA431700615COL6A3c.1546T>C
c.8283T>C (p.Pro2761=)
c.1028T>C
n.1168T>C
c.8901T>C (p.Pro2967=)
c.7077T>C (p.Pro2359=)
c.7080T>C (p.Pro2360=)
n.5343T>C
c.8301T>C (p.Pro2767=)
c.7680T>C (p.Pro2560=)
c.8400T>C (p.Pro2800=)
c.8898T>C (p.Pro2966=)
c.6495T>C (p.Pro2165=)
2g.237336199A>TCA431700619COL6A3c.1546T>A
c.8283T>A (p.Pro2761=)
c.1028T>A
n.1168T>A
c.8901T>A (p.Pro2967=)
c.7077T>A (p.Pro2359=)
c.7080T>A (p.Pro2360=)
n.5343T>A
c.8301T>A (p.Pro2767=)
c.7680T>A (p.Pro2560=)
c.8400T>A (p.Pro2800=)
c.8898T>A (p.Pro2966=)
c.6495T>A (p.Pro2165=)
2g.237336200G>ACA351191109COL6A3c.1545C>T
c.8282C>T (p.Pro2761Leu)
c.1027C>T
n.1167C>T
c.8900C>T (p.Pro2967Leu)
c.7076C>T (p.Pro2359Leu)
c.7079C>T (p.Pro2360Leu)
n.5342C>T
c.8300C>T (p.Pro2767Leu)
c.7679C>T (p.Pro2560Leu)
c.8399C>T (p.Pro2800Leu)
c.8897C>T (p.Pro2966Leu)
c.6494C>T (p.Pro2165Leu)
2g.237336200G>CCA351191111COL6A3c.1545C>G
c.8282C>G (p.Pro2761Arg)
c.1027C>G
n.1167C>G
c.8900C>G (p.Pro2967Arg)
c.7076C>G (p.Pro2359Arg)
c.7079C>G (p.Pro2360Arg)
n.5342C>G
c.8300C>G (p.Pro2767Arg)
c.7679C>G (p.Pro2560Arg)
c.8399C>G (p.Pro2800Arg)
c.8897C>G (p.Pro2966Arg)
c.6494C>G (p.Pro2165Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.237336200G=CA1337607073COL6A3c.1545C=
c.8282C= (p.Pro2761=)
c.1027C=
n.1167C=
c.8900C= (p.Pro2967=)
c.7076C= (p.Pro2359=)
c.7079C= (p.Pro2360=)
n.5342C=
c.8300C= (p.Pro2767=)
c.7679C= (p.Pro2560=)
c.8399C= (p.Pro2800=)
c.8897C= (p.Pro2966=)
c.6494C= (p.Pro2165=)
2g.237336200G>TCA351191110COL6A3c.1545C>A
c.8282C>A (p.Pro2761His)
c.1027C>A
n.1167C>A
c.8900C>A (p.Pro2967His)
c.7076C>A (p.Pro2359His)
c.7079C>A (p.Pro2360His)
n.5342C>A
c.8300C>A (p.Pro2767His)
c.7679C>A (p.Pro2560His)
c.8399C>A (p.Pro2800His)
c.8897C>A (p.Pro2966His)
c.6494C>A (p.Pro2165His)
2g.237336201G>ACA351191113COL6A3c.1544C>T
c.8281C>T (p.Pro2761Ser)
c.1026C>T
n.1166C>T
c.8899C>T (p.Pro2967Ser)
c.7075C>T (p.Pro2359Ser)
c.7078C>T (p.Pro2360Ser)
n.5341C>T
c.8299C>T (p.Pro2767Ser)
c.7678C>T (p.Pro2560Ser)
c.8398C>T (p.Pro2800Ser)
c.8896C>T (p.Pro2966Ser)
c.6493C>T (p.Pro2165Ser)
2g.237336201G>CCA351191114COL6A3c.1544C>G
c.8281C>G (p.Pro2761Ala)
c.1026C>G
n.1166C>G
c.8899C>G (p.Pro2967Ala)
c.7075C>G (p.Pro2359Ala)
c.7078C>G (p.Pro2360Ala)
n.5341C>G
c.8299C>G (p.Pro2767Ala)
c.7678C>G (p.Pro2560Ala)
c.8398C>G (p.Pro2800Ala)
c.8896C>G (p.Pro2966Ala)
c.6493C>G (p.Pro2165Ala)
2g.237336201G=CA1337607074COL6A3c.1544C=
c.8281C= (p.Pro2761=)
c.1026C=
n.1166C=
c.8899C= (p.Pro2967=)
c.7075C= (p.Pro2359=)
c.7078C= (p.Pro2360=)
n.5341C=
c.8299C= (p.Pro2767=)
c.7678C= (p.Pro2560=)
c.8398C= (p.Pro2800=)
c.8896C= (p.Pro2966=)
c.6493C= (p.Pro2165=)
2g.237336201G>TCA351191116COL6A3c.1544C>A
c.8281C>A (p.Pro2761Thr)
c.1026C>A
n.1166C>A
c.8899C>A (p.Pro2967Thr)
c.7075C>A (p.Pro2359Thr)
c.7078C>A (p.Pro2360Thr)
n.5341C>A
c.8299C>A (p.Pro2767Thr)
c.7678C>A (p.Pro2560Thr)
c.8398C>A (p.Pro2800Thr)
c.8896C>A (p.Pro2966Thr)
c.6493C>A (p.Pro2165Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.237336202C>ACA351191118COL6A3c.1543G>T
c.8280G>T (p.Lys2760Asn)
c.1025G>T
n.1165G>T
c.8898G>T (p.Lys2966Asn)
c.7074G>T (p.Lys2358Asn)
c.7077G>T (p.Lys2359Asn)
n.5340G>T
c.8298G>T (p.Lys2766Asn)
c.7677G>T (p.Lys2559Asn)
c.8397G>T (p.Lys2799Asn)
c.8895G>T (p.Lys2965Asn)
c.6492G>T (p.Lys2164Asn)
2g.237336202C=CA1337607075COL6A3c.1543G=
c.8280G= (p.Lys2760=)
c.1025G=
n.1165G=
c.8898G= (p.Lys2966=)
c.7074G= (p.Lys2358=)
c.7077G= (p.Lys2359=)
n.5340G=
c.8298G= (p.Lys2766=)
c.7677G= (p.Lys2559=)
c.8397G= (p.Lys2799=)
c.8895G= (p.Lys2965=)
c.6492G= (p.Lys2164=)
2g.237336202C>GCA351191120COL6A3c.1543G>C
c.8280G>C (p.Lys2760Asn)
c.1025G>C
n.1165G>C
c.8898G>C (p.Lys2966Asn)
c.7074G>C (p.Lys2358Asn)
c.7077G>C (p.Lys2359Asn)
n.5340G>C
c.8298G>C (p.Lys2766Asn)
c.7677G>C (p.Lys2559Asn)
c.8397G>C (p.Lys2799Asn)
c.8895G>C (p.Lys2965Asn)
c.6492G>C (p.Lys2164Asn)
2g.237336202C>TCA431700644COL6A3c.1543G>A
c.8280G>A (p.Lys2760=)
c.1025G>A
n.1165G>A
c.8898G>A (p.Lys2966=)
c.7074G>A (p.Lys2358=)
c.7077G>A (p.Lys2359=)
n.5340G>A
c.8298G>A (p.Lys2766=)
c.7677G>A (p.Lys2559=)
c.8397G>A (p.Lys2799=)
c.8895G>A (p.Lys2965=)
c.6492G>A (p.Lys2164=)
 dbSNP gnomAD v2 gnomAD v4
2g.237336203T>ACA351191121COL6A3c.1542A>T
c.8279A>T (p.Lys2760Met)
c.1024A>T
n.1164A>T
c.8897A>T (p.Lys2966Met)
c.7073A>T (p.Lys2358Met)
c.7076A>T (p.Lys2359Met)
n.5339A>T
c.8297A>T (p.Lys2766Met)
c.7676A>T (p.Lys2559Met)
c.8396A>T (p.Lys2799Met)
c.8894A>T (p.Lys2965Met)
c.6491A>T (p.Lys2164Met)
2g.237336203T>CCA351191123COL6A3c.1542A>G
c.8279A>G (p.Lys2760Arg)
c.1024A>G
n.1164A>G
c.8897A>G (p.Lys2966Arg)
c.7073A>G (p.Lys2358Arg)
c.7076A>G (p.Lys2359Arg)
n.5339A>G
c.8297A>G (p.Lys2766Arg)
c.7676A>G (p.Lys2559Arg)
c.8396A>G (p.Lys2799Arg)
c.8894A>G (p.Lys2965Arg)
c.6491A>G (p.Lys2164Arg)
 dbSNP
2g.237336203T>GCA351191125COL6A3c.1542A>C
c.8279A>C (p.Lys2760Thr)
c.1024A>C
n.1164A>C
c.8897A>C (p.Lys2966Thr)
c.7073A>C (p.Lys2358Thr)
c.7076A>C (p.Lys2359Thr)
n.5339A>C
c.8297A>C (p.Lys2766Thr)
c.7676A>C (p.Lys2559Thr)
c.8396A>C (p.Lys2799Thr)
c.8894A>C (p.Lys2965Thr)
c.6491A>C (p.Lys2164Thr)
2g.237336203T=CA1337607076COL6A3c.1542A=
c.8279A= (p.Lys2760=)
c.1024A=
n.1164A=
c.8897A= (p.Lys2966=)
c.7073A= (p.Lys2358=)
c.7076A= (p.Lys2359=)
n.5339A=
c.8297A= (p.Lys2766=)
c.7676A= (p.Lys2559=)
c.8396A= (p.Lys2799=)
c.8894A= (p.Lys2965=)
c.6491A= (p.Lys2164=)
2g.237336204T>ACA351191127COL6A3c.1541A>T
c.8278A>T (p.Lys2760Ter)
c.1023A>T
n.1163A>T
c.8896A>T (p.Lys2966Ter)
c.7072A>T (p.Lys2358Ter)
c.7075A>T (p.Lys2359Ter)
n.5338A>T
c.8296A>T (p.Lys2766Ter)
c.7675A>T (p.Lys2559Ter)
c.8395A>T (p.Lys2799Ter)
c.8893A>T (p.Lys2965Ter)
c.6490A>T (p.Lys2164Ter)
2g.237336204T>CCA351191129COL6A3c.1541A>G
c.8278A>G (p.Lys2760Glu)
c.1023A>G
n.1163A>G
c.8896A>G (p.Lys2966Glu)
c.7072A>G (p.Lys2358Glu)
c.7075A>G (p.Lys2359Glu)
n.5338A>G
c.8296A>G (p.Lys2766Glu)
c.7675A>G (p.Lys2559Glu)
c.8395A>G (p.Lys2799Glu)
c.8893A>G (p.Lys2965Glu)
c.6490A>G (p.Lys2164Glu)
2g.237336204T>GCA2187416COL6A3c.1541A>C
c.8278A>C (p.Lys2760Gln)
c.1023A>C
n.1163A>C
c.8896A>C (p.Lys2966Gln)
c.7072A>C (p.Lys2358Gln)
c.7075A>C (p.Lys2359Gln)
n.5338A>C
c.8296A>C (p.Lys2766Gln)
c.7675A>C (p.Lys2559Gln)
c.8395A>C (p.Lys2799Gln)
c.8893A>C (p.Lys2965Gln)
c.6490A>C (p.Lys2164Gln)
 dbSNP ExAC gnomAD v2
2g.237336204T=CA1337607077COL6A3c.1541A=
c.8278A= (p.Lys2760=)
c.1023A=
n.1163A=
c.8896A= (p.Lys2966=)
c.7072A= (p.Lys2358=)
c.7075A= (p.Lys2359=)
n.5338A=
c.8296A= (p.Lys2766=)
c.7675A= (p.Lys2559=)
c.8395A= (p.Lys2799=)
c.8893A= (p.Lys2965=)
c.6490A= (p.Lys2164=)
2g.237336205G>ACA431700661COL6A3c.1540C>T
c.8277C>T (p.Thr2759=)
c.1022C>T
n.1162C>T
c.8895C>T (p.Thr2965=)
c.7071C>T (p.Thr2357=)
c.7074C>T (p.Thr2358=)
n.5337C>T
c.8295C>T (p.Thr2765=)
c.7674C>T (p.Thr2558=)
c.8394C>T (p.Thr2798=)
c.8892C>T (p.Thr2964=)
c.6489C>T (p.Thr2163=)
 ClinVar dbSNP gnomAD v4
2g.237336205G>CCA431700655COL6A3c.1540C>G
c.8277C>G (p.Thr2759=)
c.1022C>G
n.1162C>G
c.8895C>G (p.Thr2965=)
c.7071C>G (p.Thr2357=)
c.7074C>G (p.Thr2358=)
n.5337C>G
c.8295C>G (p.Thr2765=)
c.7674C>G (p.Thr2558=)
c.8394C>G (p.Thr2798=)
c.8892C>G (p.Thr2964=)
c.6489C>G (p.Thr2163=)
2g.237336205G=CA1337607078COL6A3c.1540C=
c.8277C= (p.Thr2759=)
c.1022C=
n.1162C=
c.8895C= (p.Thr2965=)
c.7071C= (p.Thr2357=)
c.7074C= (p.Thr2358=)
n.5337C=
c.8295C= (p.Thr2765=)
c.7674C= (p.Thr2558=)
c.8394C= (p.Thr2798=)
c.8892C= (p.Thr2964=)
c.6489C= (p.Thr2163=)
2g.237336205G>TCA2187417COL6A3c.1540C>A
c.8277C>A (p.Thr2759=)
c.1022C>A
n.1162C>A
c.8895C>A (p.Thr2965=)
c.7071C>A (p.Thr2357=)
c.7074C>A (p.Thr2358=)
n.5337C>A
c.8295C>A (p.Thr2765=)
c.7674C>A (p.Thr2558=)
c.8394C>A (p.Thr2798=)
c.8892C>A (p.Thr2964=)
c.6489C>A (p.Thr2163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336206G>ACA351191136COL6A3c.1539C>T
c.8276C>T (p.Thr2759Ile)
c.1021C>T
n.1161C>T
c.8894C>T (p.Thr2965Ile)
c.7070C>T (p.Thr2357Ile)
c.7073C>T (p.Thr2358Ile)
n.5336C>T
c.8294C>T (p.Thr2765Ile)
c.7673C>T (p.Thr2558Ile)
c.8393C>T (p.Thr2798Ile)
c.8891C>T (p.Thr2964Ile)
c.6488C>T (p.Thr2163Ile)
2g.237336206G>CCA351191139COL6A3c.1539C>G
c.8276C>G (p.Thr2759Ser)
c.1021C>G
n.1161C>G
c.8894C>G (p.Thr2965Ser)
c.7070C>G (p.Thr2357Ser)
c.7073C>G (p.Thr2358Ser)
n.5336C>G
c.8294C>G (p.Thr2765Ser)
c.7673C>G (p.Thr2558Ser)
c.8393C>G (p.Thr2798Ser)
c.8891C>G (p.Thr2964Ser)
c.6488C>G (p.Thr2163Ser)
 gnomAD v4
2g.237336206G>TCA351191138COL6A3c.1539C>A
c.8276C>A (p.Thr2759Asn)
c.1021C>A
n.1161C>A
c.8894C>A (p.Thr2965Asn)
c.7070C>A (p.Thr2357Asn)
c.7073C>A (p.Thr2358Asn)
n.5336C>A
c.8294C>A (p.Thr2765Asn)
c.7673C>A (p.Thr2558Asn)
c.8393C>A (p.Thr2798Asn)
c.8891C>A (p.Thr2964Asn)
c.6488C>A (p.Thr2163Asn)
2g.237336207T>ACA351191141COL6A3c.1538A>T
c.8275A>T (p.Thr2759Ser)
c.1020A>T
n.1160A>T
c.8893A>T (p.Thr2965Ser)
c.7069A>T (p.Thr2357Ser)
c.7072A>T (p.Thr2358Ser)
n.5335A>T
c.8293A>T (p.Thr2765Ser)
c.7672A>T (p.Thr2558Ser)
c.8392A>T (p.Thr2798Ser)
c.8890A>T (p.Thr2964Ser)
c.6487A>T (p.Thr2163Ser)
2g.237336207T>CCA351191142COL6A3c.1538A>G
c.8275A>G (p.Thr2759Ala)
c.1020A>G
n.1160A>G
c.8893A>G (p.Thr2965Ala)
c.7069A>G (p.Thr2357Ala)
c.7072A>G (p.Thr2358Ala)
n.5335A>G
c.8293A>G (p.Thr2765Ala)
c.7672A>G (p.Thr2558Ala)
c.8392A>G (p.Thr2798Ala)
c.8890A>G (p.Thr2964Ala)
c.6487A>G (p.Thr2163Ala)
2g.237336207T>GCA351191144COL6A3c.1538A>C
c.8275A>C (p.Thr2759Pro)
c.1020A>C
n.1160A>C
c.8893A>C (p.Thr2965Pro)
c.7069A>C (p.Thr2357Pro)
c.7072A>C (p.Thr2358Pro)
n.5335A>C
c.8293A>C (p.Thr2765Pro)
c.7672A>C (p.Thr2558Pro)
c.8392A>C (p.Thr2798Pro)
c.8890A>C (p.Thr2964Pro)
c.6487A>C (p.Thr2163Pro)
2g.237336208C>ACA431700678COL6A3c.1537G>T
c.8274G>T (p.Ala2758=)
c.1019G>T
n.1159G>T
c.8892G>T (p.Ala2964=)
c.7068G>T (p.Ala2356=)
c.7071G>T (p.Ala2357=)
n.5334G>T
c.8292G>T (p.Ala2764=)
c.7671G>T (p.Ala2557=)
c.8391G>T (p.Ala2797=)
c.8889G>T (p.Ala2963=)
c.6486G>T (p.Ala2162=)
2g.237336208C=CA1337607079COL6A3c.1537G=
c.8274G= (p.Ala2758=)
c.1019G=
n.1159G=
c.8892G= (p.Ala2964=)
c.7068G= (p.Ala2356=)
c.7071G= (p.Ala2357=)
n.5334G=
c.8292G= (p.Ala2764=)
c.7671G= (p.Ala2557=)
c.8391G= (p.Ala2797=)
c.8889G= (p.Ala2963=)
c.6486G= (p.Ala2162=)
2g.237336208C>GCA2187418COL6A3c.1537G>C
c.8274G>C (p.Ala2758=)
c.1019G>C
n.1159G>C
c.8892G>C (p.Ala2964=)
c.7068G>C (p.Ala2356=)
c.7071G>C (p.Ala2357=)
n.5334G>C
c.8292G>C (p.Ala2764=)
c.7671G>C (p.Ala2557=)
c.8391G>C (p.Ala2797=)
c.8889G>C (p.Ala2963=)
c.6486G>C (p.Ala2162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336208C>TCA2187419COL6A3c.1537G>A
c.8274G>A (p.Ala2758=)
c.1019G>A
n.1159G>A
c.8892G>A (p.Ala2964=)
c.7068G>A (p.Ala2356=)
c.7071G>A (p.Ala2357=)
n.5334G>A
c.8292G>A (p.Ala2764=)
c.7671G>A (p.Ala2557=)
c.8391G>A (p.Ala2797=)
c.8889G>A (p.Ala2963=)
c.6486G>A (p.Ala2162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336209G>ACA2187420COL6A3c.1536C>T
c.8273C>T (p.Ala2758Val)
c.1018C>T
n.1158C>T
c.8891C>T (p.Ala2964Val)
c.7067C>T (p.Ala2356Val)
c.7070C>T (p.Ala2357Val)
n.5333C>T
c.8291C>T (p.Ala2764Val)
c.7670C>T (p.Ala2557Val)
c.8390C>T (p.Ala2797Val)
c.8888C>T (p.Ala2963Val)
c.6485C>T (p.Ala2162Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336209G>CCA351191150COL6A3c.1536C>G
c.8273C>G (p.Ala2758Gly)
c.1018C>G
n.1158C>G
c.8891C>G (p.Ala2964Gly)
c.7067C>G (p.Ala2356Gly)
c.7070C>G (p.Ala2357Gly)
n.5333C>G
c.8291C>G (p.Ala2764Gly)
c.7670C>G (p.Ala2557Gly)
c.8390C>G (p.Ala2797Gly)
c.8888C>G (p.Ala2963Gly)
c.6485C>G (p.Ala2162Gly)
2g.237336209G=CA1337607080COL6A3c.1536C=
c.8273C= (p.Ala2758=)
c.1018C=
n.1158C=
c.8891C= (p.Ala2964=)
c.7067C= (p.Ala2356=)
c.7070C= (p.Ala2357=)
n.5333C=
c.8291C= (p.Ala2764=)
c.7670C= (p.Ala2557=)
c.8390C= (p.Ala2797=)
c.8888C= (p.Ala2963=)
c.6485C= (p.Ala2162=)
2g.237336209G>TCA351191148COL6A3c.1536C>A
c.8273C>A (p.Ala2758Glu)
c.1018C>A
n.1158C>A
c.8891C>A (p.Ala2964Glu)
c.7067C>A (p.Ala2356Glu)
c.7070C>A (p.Ala2357Glu)
n.5333C>A
c.8291C>A (p.Ala2764Glu)
c.7670C>A (p.Ala2557Glu)
c.8390C>A (p.Ala2797Glu)
c.8888C>A (p.Ala2963Glu)
c.6485C>A (p.Ala2162Glu)
2g.237336210C>ACA351191151COL6A3c.1535G>T
c.8272G>T (p.Ala2758Ser)
c.1017G>T
n.1157G>T
c.8890G>T (p.Ala2964Ser)
c.7066G>T (p.Ala2356Ser)
c.7069G>T (p.Ala2357Ser)
n.5332G>T
c.8290G>T (p.Ala2764Ser)
c.7669G>T (p.Ala2557Ser)
c.8389G>T (p.Ala2797Ser)
c.8887G>T (p.Ala2963Ser)
c.6484G>T (p.Ala2162Ser)
2g.237336210C>GCA351191152COL6A3c.1535G>C
c.8272G>C (p.Ala2758Pro)
c.1017G>C
n.1157G>C
c.8890G>C (p.Ala2964Pro)
c.7066G>C (p.Ala2356Pro)
c.7069G>C (p.Ala2357Pro)
n.5332G>C
c.8290G>C (p.Ala2764Pro)
c.7669G>C (p.Ala2557Pro)
c.8389G>C (p.Ala2797Pro)
c.8887G>C (p.Ala2963Pro)
c.6484G>C (p.Ala2162Pro)
2g.237336210C>TCA351191153COL6A3c.1535G>A
c.8272G>A (p.Ala2758Thr)
c.1017G>A
n.1157G>A
c.8890G>A (p.Ala2964Thr)
c.7066G>A (p.Ala2356Thr)
c.7069G>A (p.Ala2357Thr)
n.5332G>A
c.8290G>A (p.Ala2764Thr)
c.7669G>A (p.Ala2557Thr)
c.8389G>A (p.Ala2797Thr)
c.8887G>A (p.Ala2963Thr)
c.6484G>A (p.Ala2162Thr)
2g.237336211C>ACA431700715COL6A3c.1534G>T
c.8271G>T (p.Val2757=)
c.1016G>T
n.1156G>T
c.8889G>T (p.Val2963=)
c.7065G>T (p.Val2355=)
c.7068G>T (p.Val2356=)
n.5331G>T
c.8289G>T (p.Val2763=)
c.7668G>T (p.Val2556=)
c.8388G>T (p.Val2796=)
c.8886G>T (p.Val2962=)
c.6483G>T (p.Val2161=)
2g.237336211C>GCA431700723COL6A3c.1534G>C
c.8271G>C (p.Val2757=)
c.1016G>C
n.1156G>C
c.8889G>C (p.Val2963=)
c.7065G>C (p.Val2355=)
c.7068G>C (p.Val2356=)
n.5331G>C
c.8289G>C (p.Val2763=)
c.7668G>C (p.Val2556=)
c.8388G>C (p.Val2796=)
c.8886G>C (p.Val2962=)
c.6483G>C (p.Val2161=)
2g.237336211C>TCA431700727COL6A3c.1534G>A
c.8271G>A (p.Val2757=)
c.1016G>A
n.1156G>A
c.8889G>A (p.Val2963=)
c.7065G>A (p.Val2355=)
c.7068G>A (p.Val2356=)
n.5331G>A
c.8289G>A (p.Val2763=)
c.7668G>A (p.Val2556=)
c.8388G>A (p.Val2796=)
c.8886G>A (p.Val2962=)
c.6483G>A (p.Val2161=)
2g.237336212A>CCA351191154COL6A3c.1533T>G
c.8270T>G (p.Val2757Gly)
c.1015T>G
n.1155T>G
c.8888T>G (p.Val2963Gly)
c.7064T>G (p.Val2355Gly)
c.7067T>G (p.Val2356Gly)
n.5330T>G
c.8288T>G (p.Val2763Gly)
c.7667T>G (p.Val2556Gly)
c.8387T>G (p.Val2796Gly)
c.8885T>G (p.Val2962Gly)
c.6482T>G (p.Val2161Gly)
2g.237336212A>GCA351191155COL6A3c.1533T>C
c.8270T>C (p.Val2757Ala)
c.1015T>C
n.1155T>C
c.8888T>C (p.Val2963Ala)
c.7064T>C (p.Val2355Ala)
c.7067T>C (p.Val2356Ala)
n.5330T>C
c.8288T>C (p.Val2763Ala)
c.7667T>C (p.Val2556Ala)
c.8387T>C (p.Val2796Ala)
c.8885T>C (p.Val2962Ala)
c.6482T>C (p.Val2161Ala)
2g.237336212A>TCA351191156COL6A3c.1533T>A
c.8270T>A (p.Val2757Glu)
c.1015T>A
n.1155T>A
c.8888T>A (p.Val2963Glu)
c.7064T>A (p.Val2355Glu)
c.7067T>A (p.Val2356Glu)
n.5330T>A
c.8288T>A (p.Val2763Glu)
c.7667T>A (p.Val2556Glu)
c.8387T>A (p.Val2796Glu)
c.8885T>A (p.Val2962Glu)
c.6482T>A (p.Val2161Glu)
2g.237336213C>ACA351191157COL6A3c.1532G>T
c.8269G>T (p.Val2757Leu)
c.1014G>T
n.1154G>T
c.8887G>T (p.Val2963Leu)
c.7063G>T (p.Val2355Leu)
c.7066G>T (p.Val2356Leu)
n.5329G>T
c.8287G>T (p.Val2763Leu)
c.7666G>T (p.Val2556Leu)
c.8386G>T (p.Val2796Leu)
c.8884G>T (p.Val2962Leu)
c.6481G>T (p.Val2161Leu)
2g.237336213C>GCA351191159COL6A3c.1532G>C
c.8269G>C (p.Val2757Leu)
c.1014G>C
n.1154G>C
c.8887G>C (p.Val2963Leu)
c.7063G>C (p.Val2355Leu)
c.7066G>C (p.Val2356Leu)
n.5329G>C
c.8287G>C (p.Val2763Leu)
c.7666G>C (p.Val2556Leu)
c.8386G>C (p.Val2796Leu)
c.8884G>C (p.Val2962Leu)
c.6481G>C (p.Val2161Leu)
2g.237336213C>TCA351191158COL6A3c.1532G>A
c.8269G>A (p.Val2757Met)
c.1014G>A
n.1154G>A
c.8887G>A (p.Val2963Met)
c.7063G>A (p.Val2355Met)
c.7066G>A (p.Val2356Met)
n.5329G>A
c.8287G>A (p.Val2763Met)
c.7666G>A (p.Val2556Met)
c.8386G>A (p.Val2796Met)
c.8884G>A (p.Val2962Met)
c.6481G>A (p.Val2161Met)
 COSMIC
2g.237336214T>ACA431700742COL6A3c.1531A>T
c.8268A>T (p.Pro2756=)
c.1013A>T
n.1153A>T
c.8886A>T (p.Pro2962=)
c.7062A>T (p.Pro2354=)
c.7065A>T (p.Pro2355=)
n.5328A>T
c.8286A>T (p.Pro2762=)
c.7665A>T (p.Pro2555=)
c.8385A>T (p.Pro2795=)
c.8883A>T (p.Pro2961=)
c.6480A>T (p.Pro2160=)
2g.237336214T>CCA431700748COL6A3c.1531A>G
c.8268A>G (p.Pro2756=)
c.1013A>G
n.1153A>G
c.8886A>G (p.Pro2962=)
c.7062A>G (p.Pro2354=)
c.7065A>G (p.Pro2355=)
n.5328A>G
c.8286A>G (p.Pro2762=)
c.7665A>G (p.Pro2555=)
c.8385A>G (p.Pro2795=)
c.8883A>G (p.Pro2961=)
c.6480A>G (p.Pro2160=)
2g.237336214T>GCA431700744COL6A3c.1531A>C
c.8268A>C (p.Pro2756=)
c.1013A>C
n.1153A>C
c.8886A>C (p.Pro2962=)
c.7062A>C (p.Pro2354=)
c.7065A>C (p.Pro2355=)
n.5328A>C
c.8286A>C (p.Pro2762=)
c.7665A>C (p.Pro2555=)
c.8385A>C (p.Pro2795=)
c.8883A>C (p.Pro2961=)
c.6480A>C (p.Pro2160=)
2g.237336215G>ACA351191160COL6A3c.1530C>T
c.8267C>T (p.Pro2756Leu)
c.1012C>T
n.1152C>T
c.8885C>T (p.Pro2962Leu)
c.7061C>T (p.Pro2354Leu)
c.7064C>T (p.Pro2355Leu)
n.5327C>T
c.8285C>T (p.Pro2762Leu)
c.7664C>T (p.Pro2555Leu)
c.8384C>T (p.Pro2795Leu)
c.8882C>T (p.Pro2961Leu)
c.6479C>T (p.Pro2160Leu)
2g.237336215G>CCA351191161COL6A3c.1530C>G
c.8267C>G (p.Pro2756Arg)
c.1012C>G
n.1152C>G
c.8885C>G (p.Pro2962Arg)
c.7061C>G (p.Pro2354Arg)
c.7064C>G (p.Pro2355Arg)
n.5327C>G
c.8285C>G (p.Pro2762Arg)
c.7664C>G (p.Pro2555Arg)
c.8384C>G (p.Pro2795Arg)
c.8882C>G (p.Pro2961Arg)
c.6479C>G (p.Pro2160Arg)
2g.237336215G>TCA351191162COL6A3c.1530C>A
c.8267C>A (p.Pro2756Gln)
c.1012C>A
n.1152C>A
c.8885C>A (p.Pro2962Gln)
c.7061C>A (p.Pro2354Gln)
c.7064C>A (p.Pro2355Gln)
n.5327C>A
c.8285C>A (p.Pro2762Gln)
c.7664C>A (p.Pro2555Gln)
c.8384C>A (p.Pro2795Gln)
c.8882C>A (p.Pro2961Gln)
c.6479C>A (p.Pro2160Gln)
2g.237336216G>ACA351191163COL6A3c.1529C>T
c.8266C>T (p.Pro2756Ser)
c.1011C>T
n.1151C>T
c.8884C>T (p.Pro2962Ser)
c.7060C>T (p.Pro2354Ser)
c.7063C>T (p.Pro2355Ser)
n.5326C>T
c.8284C>T (p.Pro2762Ser)
c.7663C>T (p.Pro2555Ser)
c.8383C>T (p.Pro2795Ser)
c.8881C>T (p.Pro2961Ser)
c.6478C>T (p.Pro2160Ser)
2g.237336216G>CCA351191164COL6A3c.1529C>G
c.8266C>G (p.Pro2756Ala)
c.1011C>G
n.1151C>G
c.8884C>G (p.Pro2962Ala)
c.7060C>G (p.Pro2354Ala)
c.7063C>G (p.Pro2355Ala)
n.5326C>G
c.8284C>G (p.Pro2762Ala)
c.7663C>G (p.Pro2555Ala)
c.8383C>G (p.Pro2795Ala)
c.8881C>G (p.Pro2961Ala)
c.6478C>G (p.Pro2160Ala)
2g.237336216G>TCA351191165COL6A3c.1529C>A
c.8266C>A (p.Pro2756Thr)
c.1011C>A
n.1151C>A
c.8884C>A (p.Pro2962Thr)
c.7060C>A (p.Pro2354Thr)
c.7063C>A (p.Pro2355Thr)
n.5326C>A
c.8284C>A (p.Pro2762Thr)
c.7663C>A (p.Pro2555Thr)
c.8383C>A (p.Pro2795Thr)
c.8881C>A (p.Pro2961Thr)
c.6478C>A (p.Pro2160Thr)
2g.237336217T>ACA351191166COL6A3c.1528A>T
c.8265A>T (p.Lys2755Asn)
c.1010A>T
n.1150A>T
c.8883A>T (p.Lys2961Asn)
c.7059A>T (p.Lys2353Asn)
c.7062A>T (p.Lys2354Asn)
n.5325A>T
c.8283A>T (p.Lys2761Asn)
c.7662A>T (p.Lys2554Asn)
c.8382A>T (p.Lys2794Asn)
c.8880A>T (p.Lys2960Asn)
c.6477A>T (p.Lys2159Asn)
2g.237336217T>CCA431700792COL6A3c.1528A>G
c.8265A>G (p.Lys2755=)
c.1010A>G
n.1150A>G
c.8883A>G (p.Lys2961=)
c.7059A>G (p.Lys2353=)
c.7062A>G (p.Lys2354=)
n.5325A>G
c.8283A>G (p.Lys2761=)
c.7662A>G (p.Lys2554=)
c.8382A>G (p.Lys2794=)
c.8880A>G (p.Lys2960=)
c.6477A>G (p.Lys2159=)
2g.237336217T>GCA351191167COL6A3c.1528A>C
c.8265A>C (p.Lys2755Asn)
c.1010A>C
n.1150A>C
c.8883A>C (p.Lys2961Asn)
c.7059A>C (p.Lys2353Asn)
c.7062A>C (p.Lys2354Asn)
n.5325A>C
c.8283A>C (p.Lys2761Asn)
c.7662A>C (p.Lys2554Asn)
c.8382A>C (p.Lys2794Asn)
c.8880A>C (p.Lys2960Asn)
c.6477A>C (p.Lys2159Asn)
2g.237336220delCA2580066106COL6A3c.1528del
c.8265del (p.Lys2755AsnfsTer?)
c.1010del
n.1150del
c.8883del (p.Lys2961AsnfsTer?)
c.7059del (p.Lys2353AsnfsTer?)
c.7062del (p.Lys2354AsnfsTer?)
n.5325del
c.8283del (p.Lys2761AsnfsTer?)
c.7662del (p.Lys2554AsnfsTer?)
c.8382del (p.Lys2794AsnfsTer?)
c.8880del (p.Lys2960AsnfsTer?)
c.6477del (p.Lys2159AsnfsTer?)
 ClinVar
2g.237336218T>ACA351191168COL6A3c.1527A>T
c.8264A>T (p.Lys2755Ile)
c.1009A>T
n.1149A>T
c.8882A>T (p.Lys2961Ile)
c.7058A>T (p.Lys2353Ile)
c.7061A>T (p.Lys2354Ile)
n.5324A>T
c.8282A>T (p.Lys2761Ile)
c.7661A>T (p.Lys2554Ile)
c.8381A>T (p.Lys2794Ile)
c.8879A>T (p.Lys2960Ile)
c.6476A>T (p.Lys2159Ile)
2g.237336218T>CCA351191169COL6A3c.1527A>G
c.8264A>G (p.Lys2755Arg)
c.1009A>G
n.1149A>G
c.8882A>G (p.Lys2961Arg)
c.7058A>G (p.Lys2353Arg)
c.7061A>G (p.Lys2354Arg)
n.5324A>G
c.8282A>G (p.Lys2761Arg)
c.7661A>G (p.Lys2554Arg)
c.8381A>G (p.Lys2794Arg)
c.8879A>G (p.Lys2960Arg)
c.6476A>G (p.Lys2159Arg)
2g.237336218T>GCA351191170COL6A3c.1527A>C
c.8264A>C (p.Lys2755Thr)
c.1009A>C
n.1149A>C
c.8882A>C (p.Lys2961Thr)
c.7058A>C (p.Lys2353Thr)
c.7061A>C (p.Lys2354Thr)
n.5324A>C
c.8282A>C (p.Lys2761Thr)
c.7661A>C (p.Lys2554Thr)
c.8381A>C (p.Lys2794Thr)
c.8879A>C (p.Lys2960Thr)
c.6476A>C (p.Lys2159Thr)
2g.237336219T>ACA351191172COL6A3c.1526A>T
c.8263A>T (p.Lys2755Ter)
c.1008A>T
n.1148A>T
c.8881A>T (p.Lys2961Ter)
c.7057A>T (p.Lys2353Ter)
c.7060A>T (p.Lys2354Ter)
n.5323A>T
c.8281A>T (p.Lys2761Ter)
c.7660A>T (p.Lys2554Ter)
c.8380A>T (p.Lys2794Ter)
c.8878A>T (p.Lys2960Ter)
c.6475A>T (p.Lys2159Ter)
2g.237336219T>CCA351191173COL6A3c.1526A>G
c.8263A>G (p.Lys2755Glu)
c.1008A>G
n.1148A>G
c.8881A>G (p.Lys2961Glu)
c.7057A>G (p.Lys2353Glu)
c.7060A>G (p.Lys2354Glu)
n.5323A>G
c.8281A>G (p.Lys2761Glu)
c.7660A>G (p.Lys2554Glu)
c.8380A>G (p.Lys2794Glu)
c.8878A>G (p.Lys2960Glu)
c.6475A>G (p.Lys2159Glu)
2g.237336219T>GCA351191171COL6A3c.1526A>C
c.8263A>C (p.Lys2755Gln)
c.1008A>C
n.1148A>C
c.8881A>C (p.Lys2961Gln)
c.7057A>C (p.Lys2353Gln)
c.7060A>C (p.Lys2354Gln)
n.5323A>C
c.8281A>C (p.Lys2761Gln)
c.7660A>C (p.Lys2554Gln)
c.8380A>C (p.Lys2794Gln)
c.8878A>C (p.Lys2960Gln)
c.6475A>C (p.Lys2159Gln)
2g.237336220T>ACA431700812COL6A3c.1525A>T
c.8262A>T (p.Ala2754=)
c.1007A>T
n.1147A>T
c.8880A>T (p.Ala2960=)
c.7056A>T (p.Ala2352=)
c.7059A>T (p.Ala2353=)
n.5322A>T
c.8280A>T (p.Ala2760=)
c.7659A>T (p.Ala2553=)
c.8379A>T (p.Ala2793=)
c.8877A>T (p.Ala2959=)
c.6474A>T (p.Ala2158=)
2g.237336220T>CCA431700815COL6A3c.1525A>G
c.8262A>G (p.Ala2754=)
c.1007A>G
n.1147A>G
c.8880A>G (p.Ala2960=)
c.7056A>G (p.Ala2352=)
c.7059A>G (p.Ala2353=)
n.5322A>G
c.8280A>G (p.Ala2760=)
c.7659A>G (p.Ala2553=)
c.8379A>G (p.Ala2793=)
c.8877A>G (p.Ala2959=)
c.6474A>G (p.Ala2158=)
2g.237336220T>GCA431700818COL6A3c.1525A>C
c.8262A>C (p.Ala2754=)
c.1007A>C
n.1147A>C
c.8880A>C (p.Ala2960=)
c.7056A>C (p.Ala2352=)
c.7059A>C (p.Ala2353=)
n.5322A>C
c.8280A>C (p.Ala2760=)
c.7659A>C (p.Ala2553=)
c.8379A>C (p.Ala2793=)
c.8877A>C (p.Ala2959=)
c.6474A>C (p.Ala2158=)
2g.237336220_237336223delinsTGCACA1337607081COL6A3c.1522_1525delinsTGCA
c.8259_8262delinsTGCA (p.Ala2753=)
c.1004_1007delinsTGCA
n.1144_1147delinsTGCA
c.8877_8880delinsTGCA (p.Ala2959=)
c.7053_7056delinsTGCA (p.Ala2351=)
c.7056_7059delinsTGCA (p.Ala2352=)
n.5319_5322delinsTGCA
c.8277_8280delinsTGCA (p.Ala2759=)
c.7656_7659delinsTGCA (p.Ala2552=)
c.8376_8379delinsTGCA (p.Ala2792=)
c.8874_8877delinsTGCA (p.Ala2958=)
c.6471_6474delinsTGCA (p.Ala2157=)
2g.237336221G>ACA351191174COL6A3c.1524C>T
c.8261C>T (p.Ala2754Val)
c.1006C>T
n.1146C>T
c.8879C>T (p.Ala2960Val)
c.7055C>T (p.Ala2352Val)
c.7058C>T (p.Ala2353Val)
n.5321C>T
c.8279C>T (p.Ala2760Val)
c.7658C>T (p.Ala2553Val)
c.8378C>T (p.Ala2793Val)
c.8876C>T (p.Ala2959Val)
c.6473C>T (p.Ala2158Val)
2g.237336221G>CCA2187422COL6A3c.1524C>G
c.8261C>G (p.Ala2754Gly)
c.1006C>G
n.1146C>G
c.8879C>G (p.Ala2960Gly)
c.7055C>G (p.Ala2352Gly)
c.7058C>G (p.Ala2353Gly)
n.5321C>G
c.8279C>G (p.Ala2760Gly)
c.7658C>G (p.Ala2553Gly)
c.8378C>G (p.Ala2793Gly)
c.8876C>G (p.Ala2959Gly)
c.6473C>G (p.Ala2158Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336221G=CA1337607082COL6A3c.1524C=
c.8261C= (p.Ala2754=)
c.1006C=
n.1146C=
c.8879C= (p.Ala2960=)
c.7055C= (p.Ala2352=)
c.7058C= (p.Ala2353=)
n.5321C=
c.8279C= (p.Ala2760=)
c.7658C= (p.Ala2553=)
c.8378C= (p.Ala2793=)
c.8876C= (p.Ala2959=)
c.6473C= (p.Ala2158=)
2g.237336221G>TCA351191175COL6A3c.1524C>A
c.8261C>A (p.Ala2754Glu)
c.1006C>A
n.1146C>A
c.8879C>A (p.Ala2960Glu)
c.7055C>A (p.Ala2352Glu)
c.7058C>A (p.Ala2353Glu)
n.5321C>A
c.8279C>A (p.Ala2760Glu)
c.7658C>A (p.Ala2553Glu)
c.8378C>A (p.Ala2793Glu)
c.8876C>A (p.Ala2959Glu)
c.6473C>A (p.Ala2158Glu)
 gnomAD v4
2g.237336232_237336234dupCA2187421COL6A3c.1522_1524dup
c.8259_8261dup (p.Ala2754_Lys2755insAla)
c.1004_1006dup
n.1144_1146dup
c.8877_8879dup (p.Ala2960_Lys2961insAla)
c.7053_7055dup (p.Ala2352_Lys2353insAla)
c.7056_7058dup (p.Ala2353_Lys2354insAla)
n.5319_5321dup
c.8277_8279dup (p.Ala2760_Lys2761insAla)
c.7656_7658dup (p.Ala2553_Lys2554insAla)
c.8376_8378dup (p.Ala2793_Lys2794insAla)
c.8874_8876dup (p.Ala2959_Lys2960insAla)
c.6471_6473dup (p.Ala2158_Lys2159insAla)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336229_237336234dupCA540749773COL6A3c.1519_1524dup
c.8256_8261dup (p.Ala2754_Lys2755insAlaAla)
c.1001_1006dup
n.1141_1146dup
c.8874_8879dup (p.Ala2960_Lys2961insAlaAla)
c.7050_7055dup (p.Ala2352_Lys2353insAlaAla)
c.7053_7058dup (p.Ala2353_Lys2354insAlaAla)
n.5316_5321dup
c.8274_8279dup (p.Ala2760_Lys2761insAlaAla)
c.7653_7658dup (p.Ala2553_Lys2554insAlaAla)
c.8373_8378dup (p.Ala2793_Lys2794insAlaAla)
c.8871_8876dup (p.Ala2959_Lys2960insAlaAla)
c.6468_6473dup (p.Ala2158_Lys2159insAlaAla)
 dbSNP gnomAD v2 gnomAD v4
2g.237336232_237336234delCA148080COL6A3c.1522_1524del
c.8259_8261del (p.Ala2754del)
c.1004_1006del
n.1144_1146del
c.8877_8879del (p.Ala2960del)
c.7053_7055del (p.Ala2352del)
c.7056_7058del (p.Ala2353del)
n.5319_5321del
c.8277_8279del (p.Ala2760del)
c.7656_7658del (p.Ala2553del)
c.8376_8378del (p.Ala2793del)
c.8874_8876del (p.Ala2959del)
c.6471_6473del (p.Ala2158del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237336222C>ACA351191176COL6A3c.1523G>T
c.8260G>T (p.Ala2754Ser)
c.1005G>T
n.1145G>T
c.8878G>T (p.Ala2960Ser)
c.7054G>T (p.Ala2352Ser)
c.7057G>T (p.Ala2353Ser)
n.5320G>T
c.8278G>T (p.Ala2760Ser)
c.7657G>T (p.Ala2553Ser)
c.8377G>T (p.Ala2793Ser)
c.8875G>T (p.Ala2959Ser)
c.6472G>T (p.Ala2158Ser)
2g.237336222C>GCA351191177COL6A3c.1523G>C
c.8260G>C (p.Ala2754Pro)
c.1005G>C
n.1145G>C
c.8878G>C (p.Ala2960Pro)
c.7054G>C (p.Ala2352Pro)
c.7057G>C (p.Ala2353Pro)
n.5320G>C
c.8278G>C (p.Ala2760Pro)
c.7657G>C (p.Ala2553Pro)
c.8377G>C (p.Ala2793Pro)
c.8875G>C (p.Ala2959Pro)
c.6472G>C (p.Ala2158Pro)
2g.237336222C>TCA351191178COL6A3c.1523G>A
c.8260G>A (p.Ala2754Thr)
c.1005G>A
n.1145G>A
c.8878G>A (p.Ala2960Thr)
c.7054G>A (p.Ala2352Thr)
c.7057G>A (p.Ala2353Thr)
n.5320G>A
c.8278G>A (p.Ala2760Thr)
c.7657G>A (p.Ala2553Thr)
c.8377G>A (p.Ala2793Thr)
c.8875G>A (p.Ala2959Thr)
c.6472G>A (p.Ala2158Thr)
2g.237336223A>CCA431700842COL6A3c.1522T>G
c.8259T>G (p.Ala2753=)
c.1004T>G
n.1144T>G
c.8877T>G (p.Ala2959=)
c.7053T>G (p.Ala2351=)
c.7056T>G (p.Ala2352=)
n.5319T>G
c.8277T>G (p.Ala2759=)
c.7656T>G (p.Ala2552=)
c.8376T>G (p.Ala2792=)
c.8874T>G (p.Ala2958=)
c.6471T>G (p.Ala2157=)
2g.237336223A>GCA431700846COL6A3c.1522T>C
c.8259T>C (p.Ala2753=)
c.1004T>C
n.1144T>C
c.8877T>C (p.Ala2959=)
c.7053T>C (p.Ala2351=)
c.7056T>C (p.Ala2352=)
n.5319T>C
c.8277T>C (p.Ala2759=)
c.7656T>C (p.Ala2552=)
c.8376T>C (p.Ala2792=)
c.8874T>C (p.Ala2958=)
c.6471T>C (p.Ala2157=)
2g.237336223A>TCA431700850COL6A3c.1522T>A
c.8259T>A (p.Ala2753=)
c.1004T>A
n.1144T>A
c.8877T>A (p.Ala2959=)
c.7053T>A (p.Ala2351=)
c.7056T>A (p.Ala2352=)
n.5319T>A
c.8277T>A (p.Ala2759=)
c.7656T>A (p.Ala2552=)
c.8376T>A (p.Ala2792=)
c.8874T>A (p.Ala2958=)
c.6471T>A (p.Ala2157=)
 gnomAD v4
2g.237336224G>ACA351191179COL6A3c.1521C>T
c.8258C>T (p.Ala2753Val)
c.1003C>T
n.1143C>T
c.8876C>T (p.Ala2959Val)
c.7052C>T (p.Ala2351Val)
c.7055C>T (p.Ala2352Val)
n.5318C>T
c.8276C>T (p.Ala2759Val)
c.7655C>T (p.Ala2552Val)
c.8375C>T (p.Ala2792Val)
c.8873C>T (p.Ala2958Val)
c.6470C>T (p.Ala2157Val)
 COSMIC
2g.237336224G>CCA351191180COL6A3c.1521C>G
c.8258C>G (p.Ala2753Gly)
c.1003C>G
n.1143C>G
c.8876C>G (p.Ala2959Gly)
c.7052C>G (p.Ala2351Gly)
c.7055C>G (p.Ala2352Gly)
n.5318C>G
c.8276C>G (p.Ala2759Gly)
c.7655C>G (p.Ala2552Gly)
c.8375C>G (p.Ala2792Gly)
c.8873C>G (p.Ala2958Gly)
c.6470C>G (p.Ala2157Gly)
2g.237336224G>TCA351191181COL6A3c.1521C>A
c.8258C>A (p.Ala2753Asp)
c.1003C>A
n.1143C>A
c.8876C>A (p.Ala2959Asp)
c.7052C>A (p.Ala2351Asp)
c.7055C>A (p.Ala2352Asp)
n.5318C>A
c.8276C>A (p.Ala2759Asp)
c.7655C>A (p.Ala2552Asp)
c.8375C>A (p.Ala2792Asp)
c.8873C>A (p.Ala2958Asp)
c.6470C>A (p.Ala2157Asp)
2g.237336225C>ACA2187424COL6A3c.1520G>T
c.8257G>T (p.Ala2753Ser)
c.1002G>T
n.1142G>T
c.8875G>T (p.Ala2959Ser)
c.7051G>T (p.Ala2351Ser)
c.7054G>T (p.Ala2352Ser)
n.5317G>T
c.8275G>T (p.Ala2759Ser)
c.7654G>T (p.Ala2552Ser)
c.8374G>T (p.Ala2792Ser)
c.8872G>T (p.Ala2958Ser)
c.6469G>T (p.Ala2157Ser)
 ClinVar dbSNP ExAC gnomAD v2
2g.237336225C=CA1337607083COL6A3c.1520G=
c.8257G= (p.Ala2753=)
c.1002G=
n.1142G=
c.8875G= (p.Ala2959=)
c.7051G= (p.Ala2351=)
c.7054G= (p.Ala2352=)
n.5317G=
c.8275G= (p.Ala2759=)
c.7654G= (p.Ala2552=)
c.8374G= (p.Ala2792=)
c.8872G= (p.Ala2958=)
c.6469G= (p.Ala2157=)
2g.237336225C>GCA351191182COL6A3c.1520G>C
c.8257G>C (p.Ala2753Pro)
c.1002G>C
n.1142G>C
c.8875G>C (p.Ala2959Pro)
c.7051G>C (p.Ala2351Pro)
c.7054G>C (p.Ala2352Pro)
n.5317G>C
c.8275G>C (p.Ala2759Pro)
c.7654G>C (p.Ala2552Pro)
c.8374G>C (p.Ala2792Pro)
c.8872G>C (p.Ala2958Pro)
c.6469G>C (p.Ala2157Pro)
2g.237336225C>TCA2187423COL6A3c.1520G>A
c.8257G>A (p.Ala2753Thr)
c.1002G>A
n.1142G>A
c.8875G>A (p.Ala2959Thr)
c.7051G>A (p.Ala2351Thr)
c.7054G>A (p.Ala2352Thr)
n.5317G>A
c.8275G>A (p.Ala2759Thr)
c.7654G>A (p.Ala2552Thr)
c.8374G>A (p.Ala2792Thr)
c.8872G>A (p.Ala2958Thr)
c.6469G>A (p.Ala2157Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336226A>CCA431700887COL6A3c.1519T>G
c.8256T>G (p.Ala2752=)
c.1001T>G
n.1141T>G
c.8874T>G (p.Ala2958=)
c.7050T>G (p.Ala2350=)
c.7053T>G (p.Ala2351=)
n.5316T>G
c.8274T>G (p.Ala2758=)
c.7653T>G (p.Ala2551=)
c.8373T>G (p.Ala2791=)
c.8871T>G (p.Ala2957=)
c.6468T>G (p.Ala2156=)
2g.237336226A>GCA431700893COL6A3c.1519T>C
c.8256T>C (p.Ala2752=)
c.1001T>C
n.1141T>C
c.8874T>C (p.Ala2958=)
c.7050T>C (p.Ala2350=)
c.7053T>C (p.Ala2351=)
n.5316T>C
c.8274T>C (p.Ala2758=)
c.7653T>C (p.Ala2551=)
c.8373T>C (p.Ala2791=)
c.8871T>C (p.Ala2957=)
c.6468T>C (p.Ala2156=)
 gnomAD v4
2g.237336226A>TCA431700890COL6A3c.1519T>A
c.8256T>A (p.Ala2752=)
c.1001T>A
n.1141T>A
c.8874T>A (p.Ala2958=)
c.7050T>A (p.Ala2350=)
c.7053T>A (p.Ala2351=)
n.5316T>A
c.8274T>A (p.Ala2758=)
c.7653T>A (p.Ala2551=)
c.8373T>A (p.Ala2791=)
c.8871T>A (p.Ala2957=)
c.6468T>A (p.Ala2156=)
2g.237336227G>ACA351191183COL6A3c.1518C>T
c.8255C>T (p.Ala2752Val)
c.1000C>T
n.1140C>T
c.8873C>T (p.Ala2958Val)
c.7049C>T (p.Ala2350Val)
c.7052C>T (p.Ala2351Val)
n.5315C>T
c.8273C>T (p.Ala2758Val)
c.7652C>T (p.Ala2551Val)
c.8372C>T (p.Ala2791Val)
c.8870C>T (p.Ala2957Val)
c.6467C>T (p.Ala2156Val)
2g.237336227G>CCA351191184COL6A3c.1518C>G
c.8255C>G (p.Ala2752Gly)
c.1000C>G
n.1140C>G
c.8873C>G (p.Ala2958Gly)
c.7049C>G (p.Ala2350Gly)
c.7052C>G (p.Ala2351Gly)
n.5315C>G
c.8273C>G (p.Ala2758Gly)
c.7652C>G (p.Ala2551Gly)
c.8372C>G (p.Ala2791Gly)
c.8870C>G (p.Ala2957Gly)
c.6467C>G (p.Ala2156Gly)
2g.237336227G=CA1337607084COL6A3c.1518C=
c.8255C= (p.Ala2752=)
c.1000C=
n.1140C=
c.8873C= (p.Ala2958=)
c.7049C= (p.Ala2350=)
c.7052C= (p.Ala2351=)
n.5315C=
c.8273C= (p.Ala2758=)
c.7652C= (p.Ala2551=)
c.8372C= (p.Ala2791=)
c.8870C= (p.Ala2957=)
c.6467C= (p.Ala2156=)
2g.237336227G>TCA351191185COL6A3c.1518C>A
c.8255C>A (p.Ala2752Asp)
c.1000C>A
n.1140C>A
c.8873C>A (p.Ala2958Asp)
c.7049C>A (p.Ala2350Asp)
c.7052C>A (p.Ala2351Asp)
n.5315C>A
c.8273C>A (p.Ala2758Asp)
c.7652C>A (p.Ala2551Asp)
c.8372C>A (p.Ala2791Asp)
c.8870C>A (p.Ala2957Asp)
c.6467C>A (p.Ala2156Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237336228C>ACA351191188COL6A3c.1517G>T
c.8254G>T (p.Ala2752Ser)
c.999G>T
n.1139G>T
c.8872G>T (p.Ala2958Ser)
c.7048G>T (p.Ala2350Ser)
c.7051G>T (p.Ala2351Ser)
n.5314G>T
c.8272G>T (p.Ala2758Ser)
c.7651G>T (p.Ala2551Ser)
c.8371G>T (p.Ala2791Ser)
c.8869G>T (p.Ala2957Ser)
c.6466G>T (p.Ala2156Ser)
2g.237336228C=CA1337607085COL6A3c.1517G=
c.8254G= (p.Ala2752=)
c.999G=
n.1139G=
c.8872G= (p.Ala2958=)
c.7048G= (p.Ala2350=)
c.7051G= (p.Ala2351=)
n.5314G=
c.8272G= (p.Ala2758=)
c.7651G= (p.Ala2551=)
c.8371G= (p.Ala2791=)
c.8869G= (p.Ala2957=)
c.6466G= (p.Ala2156=)
2g.237336228C>GCA351191187COL6A3c.1517G>C
c.8254G>C (p.Ala2752Pro)
c.999G>C
n.1139G>C
c.8872G>C (p.Ala2958Pro)
c.7048G>C (p.Ala2350Pro)
c.7051G>C (p.Ala2351Pro)
n.5314G>C
c.8272G>C (p.Ala2758Pro)
c.7651G>C (p.Ala2551Pro)
c.8371G>C (p.Ala2791Pro)
c.8869G>C (p.Ala2957Pro)
c.6466G>C (p.Ala2156Pro)
2g.237336228C>TCA351191186COL6A3c.1517G>A
c.8254G>A (p.Ala2752Thr)
c.999G>A
n.1139G>A
c.8872G>A (p.Ala2958Thr)
c.7048G>A (p.Ala2350Thr)
c.7051G>A (p.Ala2351Thr)
n.5314G>A
c.8272G>A (p.Ala2758Thr)
c.7651G>A (p.Ala2551Thr)
c.8371G>A (p.Ala2791Thr)
c.8869G>A (p.Ala2957Thr)
c.6466G>A (p.Ala2156Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.237336229A=CA1337607086COL6A3c.1516T=
c.8253T= (p.Ala2751=)
c.998T=
n.1138T=
c.8871T= (p.Ala2957=)
c.7047T= (p.Ala2349=)
c.7050T= (p.Ala2350=)
n.5313T=
c.8271T= (p.Ala2757=)
c.7650T= (p.Ala2550=)
c.8370T= (p.Ala2790=)
c.8868T= (p.Ala2956=)
c.6465T= (p.Ala2155=)
2g.237336229A>CCA431700924COL6A3c.1516T>G
c.8253T>G (p.Ala2751=)
c.998T>G
n.1138T>G
c.8871T>G (p.Ala2957=)
c.7047T>G (p.Ala2349=)
c.7050T>G (p.Ala2350=)
n.5313T>G
c.8271T>G (p.Ala2757=)
c.7650T>G (p.Ala2550=)
c.8370T>G (p.Ala2790=)
c.8868T>G (p.Ala2956=)
c.6465T>G (p.Ala2155=)
2g.237336229A>GCA431700917COL6A3c.1516T>C
c.8253T>C (p.Ala2751=)
c.998T>C
n.1138T>C
c.8871T>C (p.Ala2957=)
c.7047T>C (p.Ala2349=)
c.7050T>C (p.Ala2350=)
n.5313T>C
c.8271T>C (p.Ala2757=)
c.7650T>C (p.Ala2550=)
c.8370T>C (p.Ala2790=)
c.8868T>C (p.Ala2956=)
c.6465T>C (p.Ala2155=)
 dbSNP
2g.237336229A>TCA431700921COL6A3c.1516T>A
c.8253T>A (p.Ala2751=)
c.998T>A
n.1138T>A
c.8871T>A (p.Ala2957=)
c.7047T>A (p.Ala2349=)
c.7050T>A (p.Ala2350=)
n.5313T>A
c.8271T>A (p.Ala2757=)
c.7650T>A (p.Ala2550=)
c.8370T>A (p.Ala2790=)
c.8868T>A (p.Ala2956=)
c.6465T>A (p.Ala2155=)
2g.237336230G>ACA351191189COL6A3c.1515C>T
c.8252C>T (p.Ala2751Val)
c.997C>T
n.1137C>T
c.8870C>T (p.Ala2957Val)
c.7046C>T (p.Ala2349Val)
c.7049C>T (p.Ala2350Val)
n.5312C>T
c.8270C>T (p.Ala2757Val)
c.7649C>T (p.Ala2550Val)
c.8369C>T (p.Ala2790Val)
c.8867C>T (p.Ala2956Val)
c.6464C>T (p.Ala2155Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237336230G>CCA351191190COL6A3c.1515C>G
c.8252C>G (p.Ala2751Gly)
c.997C>G
n.1137C>G
c.8870C>G (p.Ala2957Gly)
c.7046C>G (p.Ala2349Gly)
c.7049C>G (p.Ala2350Gly)
n.5312C>G
c.8270C>G (p.Ala2757Gly)
c.7649C>G (p.Ala2550Gly)
c.8369C>G (p.Ala2790Gly)
c.8867C>G (p.Ala2956Gly)
c.6464C>G (p.Ala2155Gly)
 gnomAD v4
2g.237336230G=CA1337607087COL6A3c.1515C=
c.8252C= (p.Ala2751=)
c.997C=
n.1137C=
c.8870C= (p.Ala2957=)
c.7046C= (p.Ala2349=)
c.7049C= (p.Ala2350=)
n.5312C=
c.8270C= (p.Ala2757=)
c.7649C= (p.Ala2550=)
c.8369C= (p.Ala2790=)
c.8867C= (p.Ala2956=)
c.6464C= (p.Ala2155=)
2g.237336230G>TCA351191191COL6A3c.1515C>A
c.8252C>A (p.Ala2751Asp)
c.997C>A
n.1137C>A
c.8870C>A (p.Ala2957Asp)
c.7046C>A (p.Ala2349Asp)
c.7049C>A (p.Ala2350Asp)
n.5312C>A
c.8270C>A (p.Ala2757Asp)
c.7649C>A (p.Ala2550Asp)
c.8369C>A (p.Ala2790Asp)
c.8867C>A (p.Ala2956Asp)
c.6464C>A (p.Ala2155Asp)
2g.237336231C>ACA351191192COL6A3c.1514G>T
c.8251G>T (p.Ala2751Ser)
c.996G>T
n.1136G>T
c.8869G>T (p.Ala2957Ser)
c.7045G>T (p.Ala2349Ser)
c.7048G>T (p.Ala2350Ser)
n.5311G>T
c.8269G>T (p.Ala2757Ser)
c.7648G>T (p.Ala2550Ser)
c.8368G>T (p.Ala2790Ser)
c.8866G>T (p.Ala2956Ser)
c.6463G>T (p.Ala2155Ser)
2g.237336231C=CA1337607089COL6A3c.1514G=
c.8251G= (p.Ala2751=)
c.996G=
n.1136G=
c.8869G= (p.Ala2957=)
c.7045G= (p.Ala2349=)
c.7048G= (p.Ala2350=)
n.5311G=
c.8269G= (p.Ala2757=)
c.7648G= (p.Ala2550=)
c.8368G= (p.Ala2790=)
c.8866G= (p.Ala2956=)
c.6463G= (p.Ala2155=)
2g.237336231C>GCA351191193COL6A3c.1514G>C
c.8251G>C (p.Ala2751Pro)
c.996G>C
n.1136G>C
c.8869G>C (p.Ala2957Pro)
c.7045G>C (p.Ala2349Pro)
c.7048G>C (p.Ala2350Pro)
n.5311G>C
c.8269G>C (p.Ala2757Pro)
c.7648G>C (p.Ala2550Pro)
c.8368G>C (p.Ala2790Pro)
c.8866G>C (p.Ala2956Pro)
c.6463G>C (p.Ala2155Pro)
2g.237336231C>TCA351191194COL6A3c.1514G>A
c.8251G>A (p.Ala2751Thr)
c.996G>A
n.1136G>A
c.8869G>A (p.Ala2957Thr)
c.7045G>A (p.Ala2349Thr)
c.7048G>A (p.Ala2350Thr)
n.5311G>A
c.8269G>A (p.Ala2757Thr)
c.7648G>A (p.Ala2550Thr)
c.8368G>A (p.Ala2790Thr)
c.8866G>A (p.Ala2956Thr)
c.6463G>A (p.Ala2155Thr)
 ClinVar dbSNP
2g.237336231_237336232delinsCACA1337607088COL6A3c.1513_1514delinsTG
c.8250_8251delinsTG (p.Ala2750=)
c.995_996delinsTG
n.1135_1136delinsTG
c.8868_8869delinsTG (p.Ala2956=)
c.7044_7045delinsTG (p.Ala2348=)
c.7047_7048delinsTG (p.Ala2349=)
n.5310_5311delinsTG
c.8268_8269delinsTG (p.Ala2756=)
c.7647_7648delinsTG (p.Ala2549=)
c.8367_8368delinsTG (p.Ala2789=)
c.8865_8866delinsTG (p.Ala2955=)
c.6462_6463delinsTG (p.Ala2154=)
2g.237336232delCA916807163COL6A3c.1513del
c.8250del (p.Ala2751LeufsTer?)
c.995del
n.1135del
c.8868del (p.Ala2957LeufsTer?)
c.7044del (p.Ala2349LeufsTer?)
c.7047del (p.Ala2350LeufsTer?)
n.5310del
c.8268del (p.Ala2757LeufsTer?)
c.7647del (p.Ala2550LeufsTer?)
c.8367del (p.Ala2790LeufsTer?)
c.8865del (p.Ala2956LeufsTer?)
c.6462del (p.Ala2155LeufsTer?)
 dbSNP
2g.237336232A=CA1337607090COL6A3c.1513T=
c.8250T= (p.Ala2750=)
c.995T=
n.1135T=
c.8868T= (p.Ala2956=)
c.7044T= (p.Ala2348=)
c.7047T= (p.Ala2349=)
n.5310T=
c.8268T= (p.Ala2756=)
c.7647T= (p.Ala2549=)
c.8367T= (p.Ala2789=)
c.8865T= (p.Ala2955=)
c.6462T= (p.Ala2154=)
2g.237336232A>CCA431700943COL6A3c.1513T>G
c.8250T>G (p.Ala2750=)
c.995T>G
n.1135T>G
c.8868T>G (p.Ala2956=)
c.7044T>G (p.Ala2348=)
c.7047T>G (p.Ala2349=)
n.5310T>G
c.8268T>G (p.Ala2756=)
c.7647T>G (p.Ala2549=)
c.8367T>G (p.Ala2789=)
c.8865T>G (p.Ala2955=)
c.6462T>G (p.Ala2154=)
2g.237336232A>GCA2187426COL6A3c.1513T>C
c.8250T>C (p.Ala2750=)
c.995T>C
n.1135T>C
c.8868T>C (p.Ala2956=)
c.7044T>C (p.Ala2348=)
c.7047T>C (p.Ala2349=)
n.5310T>C
c.8268T>C (p.Ala2756=)
c.7647T>C (p.Ala2549=)
c.8367T>C (p.Ala2789=)
c.8865T>C (p.Ala2955=)
c.6462T>C (p.Ala2154=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336232A>TCA431700950COL6A3c.1513T>A
c.8250T>A (p.Ala2750=)
c.995T>A
n.1135T>A
c.8868T>A (p.Ala2956=)
c.7044T>A (p.Ala2348=)
c.7047T>A (p.Ala2349=)
n.5310T>A
c.8268T>A (p.Ala2756=)
c.7647T>A (p.Ala2549=)
c.8367T>A (p.Ala2789=)
c.8865T>A (p.Ala2955=)
c.6462T>A (p.Ala2154=)
 gnomAD v4
2g.237336232_237336233delCA2663792156COL6A3c.1512_1513del
c.8249_8250del (p.Ala2750GlyfsTer12)
c.994_995del
n.1134_1135del
c.8867_8868del (p.Ala2956GlyfsTer12)
c.7043_7044del (p.Ala2348GlyfsTer12)
c.7046_7047del (p.Ala2349GlyfsTer12)
n.5309_5310del
c.8267_8268del (p.Ala2756GlyfsTer12)
c.7646_7647del (p.Ala2549GlyfsTer12)
c.8366_8367del (p.Ala2789GlyfsTer12)
c.8864_8865del (p.Ala2955GlyfsTer12)
c.6461_6462del (p.Ala2154GlyfsTer12)
 gnomAD v4
2g.237336232_237336235delinsAGCGCA1337607091COL6A3c.1510_1513delinsCGCT
c.8247_8250delinsCGCT (p.Pro2749=)
c.992_995delinsCGCT
n.1132_1135delinsCGCT
c.8865_8868delinsCGCT (p.Pro2955=)
c.7041_7044delinsCGCT (p.Pro2347=)
c.7044_7047delinsCGCT (p.Pro2348=)
n.5307_5310delinsCGCT
c.8265_8268delinsCGCT (p.Pro2755=)
c.7644_7647delinsCGCT (p.Pro2548=)
c.8364_8367delinsCGCT (p.Pro2788=)
c.8862_8865delinsCGCT (p.Pro2954=)
c.6459_6462delinsCGCT (p.Pro2153=)
2g.237336233G>ACA351191195COL6A3c.1512C>T
c.8249C>T (p.Ala2750Val)
c.994C>T
n.1134C>T
c.8867C>T (p.Ala2956Val)
c.7043C>T (p.Ala2348Val)
c.7046C>T (p.Ala2349Val)
n.5309C>T
c.8267C>T (p.Ala2756Val)
c.7646C>T (p.Ala2549Val)
c.8366C>T (p.Ala2789Val)
c.8864C>T (p.Ala2955Val)
c.6461C>T (p.Ala2154Val)
2g.237336233G>CCA351191196COL6A3c.1512C>G
c.8249C>G (p.Ala2750Gly)
c.994C>G
n.1134C>G
c.8867C>G (p.Ala2956Gly)
c.7043C>G (p.Ala2348Gly)
c.7046C>G (p.Ala2349Gly)
n.5309C>G
c.8267C>G (p.Ala2756Gly)
c.7646C>G (p.Ala2549Gly)
c.8366C>G (p.Ala2789Gly)
c.8864C>G (p.Ala2955Gly)
c.6461C>G (p.Ala2154Gly)
2g.237336233G>TCA351191197COL6A3c.1512C>A
c.8249C>A (p.Ala2750Asp)
c.994C>A
n.1134C>A
c.8867C>A (p.Ala2956Asp)
c.7043C>A (p.Ala2348Asp)
c.7046C>A (p.Ala2349Asp)
n.5309C>A
c.8267C>A (p.Ala2756Asp)
c.7646C>A (p.Ala2549Asp)
c.8366C>A (p.Ala2789Asp)
c.8864C>A (p.Ala2955Asp)
c.6461C>A (p.Ala2154Asp)
2g.237336234_237336235dupCA916807164COL6A3c.1511_1512dup
c.8248_8249dup (p.Ala2751LeufsTer?)
c.993_994dup
n.1133_1134dup
c.8866_8867dup (p.Ala2957LeufsTer?)
c.7042_7043dup (p.Ala2349LeufsTer?)
c.7045_7046dup (p.Ala2350LeufsTer?)
n.5308_5309dup
c.8266_8267dup (p.Ala2757LeufsTer?)
c.7645_7646dup (p.Ala2550LeufsTer?)
c.8365_8366dup (p.Ala2790LeufsTer?)
c.8863_8864dup (p.Ala2956LeufsTer?)
c.6460_6461dup (p.Ala2155LeufsTer?)
 dbSNP
2g.237336234_237336236delCA2187425COL6A3c.1510_1512del
c.8247_8249del (p.Ala2750del)
c.992_994del
n.1132_1134del
c.8865_8867del (p.Ala2956del)
c.7041_7043del (p.Ala2348del)
c.7044_7046del (p.Ala2349del)
n.5307_5309del
c.8265_8267del (p.Ala2756del)
c.7644_7646del (p.Ala2549del)
c.8364_8366del (p.Ala2789del)
c.8862_8864del (p.Ala2955del)
c.6459_6461del (p.Ala2154del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336234delCA2580066107COL6A3c.1511del
c.8248del (p.Ala2750LeufsTer?)
c.993del
n.1133del
c.8866del (p.Ala2956LeufsTer?)
c.7042del (p.Ala2348LeufsTer?)
c.7045del (p.Ala2349LeufsTer?)
n.5308del
c.8266del (p.Ala2756LeufsTer?)
c.7645del (p.Ala2549LeufsTer?)
c.8365del (p.Ala2789LeufsTer?)
c.8863del (p.Ala2955LeufsTer?)
c.6460del (p.Ala2154LeufsTer?)
 ClinVar
2g.237336234C>ACA351191198COL6A3c.1511G>T
c.8248G>T (p.Ala2750Ser)
c.993G>T
n.1133G>T
c.8866G>T (p.Ala2956Ser)
c.7042G>T (p.Ala2348Ser)
c.7045G>T (p.Ala2349Ser)
n.5308G>T
c.8266G>T (p.Ala2756Ser)
c.7645G>T (p.Ala2549Ser)
c.8365G>T (p.Ala2789Ser)
c.8863G>T (p.Ala2955Ser)
c.6460G>T (p.Ala2154Ser)
 gnomAD v4
2g.237336234C=CA1337607092COL6A3c.1511G=
c.8248G= (p.Ala2750=)
c.993G=
n.1133G=
c.8866G= (p.Ala2956=)
c.7042G= (p.Ala2348=)
c.7045G= (p.Ala2349=)
n.5308G=
c.8266G= (p.Ala2756=)
c.7645G= (p.Ala2549=)
c.8365G= (p.Ala2789=)
c.8863G= (p.Ala2955=)
c.6460G= (p.Ala2154=)
2g.237336234C>GCA67830406COL6A3c.1511G>C
c.8248G>C (p.Ala2750Pro)
c.993G>C
n.1133G>C
c.8866G>C (p.Ala2956Pro)
c.7042G>C (p.Ala2348Pro)
c.7045G>C (p.Ala2349Pro)
n.5308G>C
c.8266G>C (p.Ala2756Pro)
c.7645G>C (p.Ala2549Pro)
c.8365G>C (p.Ala2789Pro)
c.8863G>C (p.Ala2955Pro)
c.6460G>C (p.Ala2154Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336234C>TCA2187427COL6A3c.1511G>A
c.8248G>A (p.Ala2750Thr)
c.993G>A
n.1133G>A
c.8866G>A (p.Ala2956Thr)
c.7042G>A (p.Ala2348Thr)
c.7045G>A (p.Ala2349Thr)
n.5308G>A
c.8266G>A (p.Ala2756Thr)
c.7645G>A (p.Ala2549Thr)
c.8365G>A (p.Ala2789Thr)
c.8863G>A (p.Ala2955Thr)
c.6460G>A (p.Ala2154Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.237336235G>ACA2187428COL6A3c.1510C>T
c.8247C>T (p.Pro2749=)
c.992C>T
n.1132C>T
c.8865C>T (p.Pro2955=)
c.7041C>T (p.Pro2347=)
c.7044C>T (p.Pro2348=)
n.5307C>T
c.8265C>T (p.Pro2755=)
c.7644C>T (p.Pro2548=)
c.8364C>T (p.Pro2788=)
c.8862C>T (p.Pro2954=)
c.6459C>T (p.Pro2153=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237336235G>CCA431700968COL6A3c.1510C>G
c.8247C>G (p.Pro2749=)
c.992C>G
n.1132C>G
c.8865C>G (p.Pro2955=)
c.7041C>G (p.Pro2347=)
c.7044C>G (p.Pro2348=)
n.5307C>G
c.8265C>G (p.Pro2755=)
c.7644C>G (p.Pro2548=)
c.8364C>G (p.Pro2788=)
c.8862C>G (p.Pro2954=)
c.6459C>G (p.Pro2153=)
 dbSNP gnomAD v3 gnomAD v4
2g.237336235G=CA1337607093COL6A3c.1510C=
c.8247C= (p.Pro2749=)
c.992C=
n.1132C=
c.8865C= (p.Pro2955=)
c.7041C= (p.Pro2347=)
c.7044C= (p.Pro2348=)
n.5307C=
c.8265C= (p.Pro2755=)
c.7644C= (p.Pro2548=)
c.8364C= (p.Pro2788=)
c.8862C= (p.Pro2954=)
c.6459C= (p.Pro2153=)
2g.237336235G>TCA431700971COL6A3c.1510C>A
c.8247C>A (p.Pro2749=)
c.992C>A
n.1132C>A
c.8865C>A (p.Pro2955=)
c.7041C>A (p.Pro2347=)
c.7044C>A (p.Pro2348=)
n.5307C>A
c.8265C>A (p.Pro2755=)
c.7644C>A (p.Pro2548=)
c.8364C>A (p.Pro2788=)
c.8862C>A (p.Pro2954=)
c.6459C>A (p.Pro2153=)
 dbSNP gnomAD v4
2g.237336240dupCA1337607094COL6A3c.1510dup
c.8247dup (p.Ala2750ArgfsTer13)
c.992dup
n.1132dup
c.8865dup (p.Ala2956ArgfsTer13)
c.7041dup (p.Ala2348ArgfsTer13)
c.7044dup (p.Ala2349ArgfsTer13)
n.5307dup
c.8265dup (p.Ala2756ArgfsTer13)
c.7644dup (p.Ala2549ArgfsTer13)
c.8364dup (p.Ala2789ArgfsTer13)
c.8862dup (p.Ala2955ArgfsTer13)
c.6459dup (p.Ala2154ArgfsTer13)
 dbSNP gnomAD v4
2g.237336240delCA2663792157COL6A3c.1510del
c.8247del (p.Ala2750LeufsTer?)
c.992del
n.1132del
c.8865del (p.Ala2956LeufsTer?)
c.7041del (p.Ala2348LeufsTer?)
c.7044del (p.Ala2349LeufsTer?)
n.5307del
c.8265del (p.Ala2756LeufsTer?)
c.7644del (p.Ala2549LeufsTer?)
c.8364del (p.Ala2789LeufsTer?)
c.8862del (p.Ala2955LeufsTer?)
c.6459del (p.Ala2154LeufsTer?)
 gnomAD v4
2g.237336236G>ACA351191199COL6A3c.1509C>T
c.8246C>T (p.Pro2749Leu)
c.991C>T
n.1131C>T
c.8864C>T (p.Pro2955Leu)
c.7040C>T (p.Pro2347Leu)
c.7043C>T (p.Pro2348Leu)
n.5306C>T
c.8264C>T (p.Pro2755Leu)
c.7643C>T (p.Pro2548Leu)
c.8363C>T (p.Pro2788Leu)
c.8861C>T (p.Pro2954Leu)
c.6458C>T (p.Pro2153Leu)
2g.237336236G>CCA351191200COL6A3c.1509C>G
c.8246C>G (p.Pro2749Arg)
c.991C>G
n.1131C>G
c.8864C>G (p.Pro2955Arg)
c.7040C>G (p.Pro2347Arg)
c.7043C>G (p.Pro2348Arg)
n.5306C>G
c.8264C>G (p.Pro2755Arg)
c.7643C>G (p.Pro2548Arg)
c.8363C>G (p.Pro2788Arg)
c.8861C>G (p.Pro2954Arg)
c.6458C>G (p.Pro2153Arg)
2g.237336236G>TCA351191201COL6A3c.1509C>A
c.8246C>A (p.Pro2749His)
c.991C>A
n.1131C>A
c.8864C>A (p.Pro2955His)
c.7040C>A (p.Pro2347His)
c.7043C>A (p.Pro2348His)
n.5306C>A
c.8264C>A (p.Pro2755His)
c.7643C>A (p.Pro2548His)
c.8363C>A (p.Pro2788His)
c.8861C>A (p.Pro2954His)
c.6458C>A (p.Pro2153His)
2g.237336237G>ACA351191202COL6A3c.1508C>T
c.8245C>T (p.Pro2749Ser)
c.990C>T
n.1130C>T
c.8863C>T (p.Pro2955Ser)
c.7039C>T (p.Pro2347Ser)
c.7042C>T (p.Pro2348Ser)
n.5305C>T
c.8263C>T (p.Pro2755Ser)
c.7642C>T (p.Pro2548Ser)
c.8362C>T (p.Pro2788Ser)
c.8860C>T (p.Pro2954Ser)
c.6457C>T (p.Pro2153Ser)
 ClinVar dbSNP gnomAD v4
2g.237336237G>CCA351191203COL6A3c.1508C>G
c.8245C>G (p.Pro2749Ala)
c.990C>G
n.1130C>G
c.8863C>G (p.Pro2955Ala)
c.7039C>G (p.Pro2347Ala)
c.7042C>G (p.Pro2348Ala)
n.5305C>G
c.8263C>G (p.Pro2755Ala)
c.7642C>G (p.Pro2548Ala)
c.8362C>G (p.Pro2788Ala)
c.8860C>G (p.Pro2954Ala)
c.6457C>G (p.Pro2153Ala)
 gnomAD v4
2g.237336237G=CA1337607095COL6A3c.1508C=
c.8245C= (p.Pro2749=)
c.990C=
n.1130C=
c.8863C= (p.Pro2955=)
c.7039C= (p.Pro2347=)
c.7042C= (p.Pro2348=)
n.5305C=
c.8263C= (p.Pro2755=)
c.7642C= (p.Pro2548=)
c.8362C= (p.Pro2788=)
c.8860C= (p.Pro2954=)
c.6457C= (p.Pro2153=)
2g.237336237G>TCA351191204COL6A3c.1508C>A
c.8245C>A (p.Pro2749Thr)
c.990C>A
n.1130C>A
c.8863C>A (p.Pro2955Thr)
c.7039C>A (p.Pro2347Thr)
c.7042C>A (p.Pro2348Thr)
n.5305C>A
c.8263C>A (p.Pro2755Thr)
c.7642C>A (p.Pro2548Thr)
c.8362C>A (p.Pro2788Thr)
c.8860C>A (p.Pro2954Thr)
c.6457C>A (p.Pro2153Thr)
 gnomAD v4
2g.237336238G>ACA431700996COL6A3c.1507C>T
c.8244C>T (p.Pro2748=)
c.989C>T
n.1129C>T
c.8862C>T (p.Pro2954=)
c.7038C>T (p.Pro2346=)
c.7041C>T (p.Pro2347=)
n.5304C>T
c.8262C>T (p.Pro2754=)
c.7641C>T (p.Pro2547=)
c.8361C>T (p.Pro2787=)
c.8859C>T (p.Pro2953=)
c.6456C>T (p.Pro2152=)
 ClinVar dbSNP
2g.237336238G>CCA431701011COL6A3c.1507C>G
c.8244C>G (p.Pro2748=)
c.989C>G
n.1129C>G
c.8862C>G (p.Pro2954=)
c.7038C>G (p.Pro2346=)
c.7041C>G (p.Pro2347=)
n.5304C>G
c.8262C>G (p.Pro2754=)
c.7641C>G (p.Pro2547=)
c.8361C>G (p.Pro2787=)
c.8859C>G (p.Pro2953=)
c.6456C>G (p.Pro2152=)
2g.237336238G>TCA431701016COL6A3c.1507C>A
c.8244C>A (p.Pro2748=)
c.989C>A
n.1129C>A
c.8862C>A (p.Pro2954=)
c.7038C>A (p.Pro2346=)
c.7041C>A (p.Pro2347=)
n.5304C>A
c.8262C>A (p.Pro2754=)
c.7641C>A (p.Pro2547=)
c.8361C>A (p.Pro2787=)
c.8859C>A (p.Pro2953=)
c.6456C>A (p.Pro2152=)
2g.237336239G>ACA2187429COL6A3c.1506C>T
c.8243C>T (p.Pro2748Leu)
c.988C>T
n.1128C>T
c.8861C>T (p.Pro2954Leu)
c.7037C>T (p.Pro2346Leu)
c.7040C>T (p.Pro2347Leu)
n.5303C>T
c.8261C>T (p.Pro2754Leu)
c.7640C>T (p.Pro2547Leu)
c.8360C>T (p.Pro2787Leu)
c.8858C>T (p.Pro2953Leu)
c.6455C>T (p.Pro2152Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336239G>CCA351191205COL6A3c.1506C>G
c.8243C>G (p.Pro2748Arg)
c.988C>G
n.1128C>G
c.8861C>G (p.Pro2954Arg)
c.7037C>G (p.Pro2346Arg)
c.7040C>G (p.Pro2347Arg)
n.5303C>G
c.8261C>G (p.Pro2754Arg)
c.7640C>G (p.Pro2547Arg)
c.8360C>G (p.Pro2787Arg)
c.8858C>G (p.Pro2953Arg)
c.6455C>G (p.Pro2152Arg)
2g.237336239G=CA1337607096COL6A3c.1506C=
c.8243C= (p.Pro2748=)
c.988C=
n.1128C=
c.8861C= (p.Pro2954=)
c.7037C= (p.Pro2346=)
c.7040C= (p.Pro2347=)
n.5303C=
c.8261C= (p.Pro2754=)
c.7640C= (p.Pro2547=)
c.8360C= (p.Pro2787=)
c.8858C= (p.Pro2953=)
c.6455C= (p.Pro2152=)
2g.237336239G>TCA351191206COL6A3c.1506C>A
c.8243C>A (p.Pro2748His)
c.988C>A
n.1128C>A
c.8861C>A (p.Pro2954His)
c.7037C>A (p.Pro2346His)
c.7040C>A (p.Pro2347His)
n.5303C>A
c.8261C>A (p.Pro2754His)
c.7640C>A (p.Pro2547His)
c.8360C>A (p.Pro2787His)
c.8858C>A (p.Pro2953His)
c.6455C>A (p.Pro2152His)
 ClinVar dbSNP gnomAD v4
2g.237336240G>ACA67830434COL6A3c.1505C>T
c.8242C>T (p.Pro2748Ser)
c.987C>T
n.1127C>T
c.8860C>T (p.Pro2954Ser)
c.7036C>T (p.Pro2346Ser)
c.7039C>T (p.Pro2347Ser)
n.5302C>T
c.8260C>T (p.Pro2754Ser)
c.7639C>T (p.Pro2547Ser)
c.8359C>T (p.Pro2787Ser)
c.8857C>T (p.Pro2953Ser)
c.6454C>T (p.Pro2152Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237336240G>CCA351191207COL6A3c.1505C>G
c.8242C>G (p.Pro2748Ala)
c.987C>G
n.1127C>G
c.8860C>G (p.Pro2954Ala)
c.7036C>G (p.Pro2346Ala)
c.7039C>G (p.Pro2347Ala)
n.5302C>G
c.8260C>G (p.Pro2754Ala)
c.7639C>G (p.Pro2547Ala)
c.8359C>G (p.Pro2787Ala)
c.8857C>G (p.Pro2953Ala)
c.6454C>G (p.Pro2152Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.237336240G=CA1337607097COL6A3c.1505C=
c.8242C= (p.Pro2748=)
c.987C=
n.1127C=
c.8860C= (p.Pro2954=)
c.7036C= (p.Pro2346=)
c.7039C= (p.Pro2347=)
n.5302C=
c.8260C= (p.Pro2754=)
c.7639C= (p.Pro2547=)
c.8359C= (p.Pro2787=)
c.8857C= (p.Pro2953=)
c.6454C= (p.Pro2152=)
2g.237336240G>TCA351191208COL6A3c.1505C>A
c.8242C>A (p.Pro2748Thr)
c.987C>A
n.1127C>A
c.8860C>A (p.Pro2954Thr)
c.7036C>A (p.Pro2346Thr)
c.7039C>A (p.Pro2347Thr)
n.5302C>A
c.8260C>A (p.Pro2754Thr)
c.7639C>A (p.Pro2547Thr)
c.8359C>A (p.Pro2787Thr)
c.8857C>A (p.Pro2953Thr)
c.6454C>A (p.Pro2152Thr)
 dbSNP gnomAD v4
2g.237336241T>ACA351191209COL6A3c.1504A>T
c.8241A>T (p.Arg2747Ser)
c.986A>T
n.1126A>T
c.8859A>T (p.Arg2953Ser)
c.7035A>T (p.Arg2345Ser)
c.7038A>T (p.Arg2346Ser)
n.5301A>T
c.8259A>T (p.Arg2753Ser)
c.7638A>T (p.Arg2546Ser)
c.8358A>T (p.Arg2786Ser)
c.8856A>T (p.Arg2952Ser)
c.6453A>T (p.Arg2151Ser)
2g.237336241T>CCA431701042COL6A3c.1504A>G
c.8241A>G (p.Arg2747=)
c.986A>G
n.1126A>G
c.8859A>G (p.Arg2953=)
c.7035A>G (p.Arg2345=)
c.7038A>G (p.Arg2346=)
n.5301A>G
c.8259A>G (p.Arg2753=)
c.7638A>G (p.Arg2546=)
c.8358A>G (p.Arg2786=)
c.8856A>G (p.Arg2952=)
c.6453A>G (p.Arg2151=)
2g.237336241T>GCA351191210COL6A3c.1504A>C
c.8241A>C (p.Arg2747Ser)
c.986A>C
n.1126A>C
c.8859A>C (p.Arg2953Ser)
c.7035A>C (p.Arg2345Ser)
c.7038A>C (p.Arg2346Ser)
n.5301A>C
c.8259A>C (p.Arg2753Ser)
c.7638A>C (p.Arg2546Ser)
c.8358A>C (p.Arg2786Ser)
c.8856A>C (p.Arg2952Ser)
c.6453A>C (p.Arg2151Ser)
 dbSNP
2g.237336241T=CA1337607098COL6A3c.1504A=
c.8241A= (p.Arg2747=)
c.986A=
n.1126A=
c.8859A= (p.Arg2953=)
c.7035A= (p.Arg2345=)
c.7038A= (p.Arg2346=)
n.5301A=
c.8259A= (p.Arg2753=)
c.7638A= (p.Arg2546=)
c.8358A= (p.Arg2786=)
c.8856A= (p.Arg2952=)
c.6453A= (p.Arg2151=)
2g.237336242C>ACA351191211COL6A3c.1503G>T
c.8240G>T (p.Arg2747Ile)
c.985G>T
n.1125G>T
c.8858G>T (p.Arg2953Ile)
c.7034G>T (p.Arg2345Ile)
c.7037G>T (p.Arg2346Ile)
n.5300G>T
c.8258G>T (p.Arg2753Ile)
c.7637G>T (p.Arg2546Ile)
c.8357G>T (p.Arg2786Ile)
c.8855G>T (p.Arg2952Ile)
c.6452G>T (p.Arg2151Ile)
2g.237336242C>GCA351191212COL6A3c.1503G>C
c.8240G>C (p.Arg2747Thr)
c.985G>C
n.1125G>C
c.8858G>C (p.Arg2953Thr)
c.7034G>C (p.Arg2345Thr)
c.7037G>C (p.Arg2346Thr)
n.5300G>C
c.8258G>C (p.Arg2753Thr)
c.7637G>C (p.Arg2546Thr)
c.8357G>C (p.Arg2786Thr)
c.8855G>C (p.Arg2952Thr)
c.6452G>C (p.Arg2151Thr)
2g.237336242C>TCA351191213COL6A3c.1503G>A
c.8240G>A (p.Arg2747Lys)
c.985G>A
n.1125G>A
c.8858G>A (p.Arg2953Lys)
c.7034G>A (p.Arg2345Lys)
c.7037G>A (p.Arg2346Lys)
n.5300G>A
c.8258G>A (p.Arg2753Lys)
c.7637G>A (p.Arg2546Lys)
c.8357G>A (p.Arg2786Lys)
c.8855G>A (p.Arg2952Lys)
c.6452G>A (p.Arg2151Lys)
2g.237336243T>ACA351191214COL6A3c.1502A>T
c.8239A>T (p.Arg2747Ter)
c.984A>T
n.1124A>T
c.8857A>T (p.Arg2953Ter)
c.7033A>T (p.Arg2345Ter)
c.7036A>T (p.Arg2346Ter)
n.5299A>T
c.8257A>T (p.Arg2753Ter)
c.7636A>T (p.Arg2546Ter)
c.8356A>T (p.Arg2786Ter)
c.8854A>T (p.Arg2952Ter)
c.6451A>T (p.Arg2151Ter)
2g.237336243T>CCA351191215COL6A3c.1502A>G
c.8239A>G (p.Arg2747Gly)
c.984A>G
n.1124A>G
c.8857A>G (p.Arg2953Gly)
c.7033A>G (p.Arg2345Gly)
c.7036A>G (p.Arg2346Gly)
n.5299A>G
c.8257A>G (p.Arg2753Gly)
c.7636A>G (p.Arg2546Gly)
c.8356A>G (p.Arg2786Gly)
c.8854A>G (p.Arg2952Gly)
c.6451A>G (p.Arg2151Gly)
2g.237336243T>GCA431701081COL6A3c.1502A>C
c.8239A>C (p.Arg2747=)
c.984A>C
n.1124A>C
c.8857A>C (p.Arg2953=)
c.7033A>C (p.Arg2345=)
c.7036A>C (p.Arg2346=)
n.5299A>C
c.8257A>C (p.Arg2753=)
c.7636A>C (p.Arg2546=)
c.8356A>C (p.Arg2786=)
c.8854A>C (p.Arg2952=)
c.6451A>C (p.Arg2151=)
2g.237336244T>ACA431701086COL6A3c.1501A>T
c.8238A>T (p.Val2746=)
c.983A>T
n.1123A>T
c.8856A>T (p.Val2952=)
c.7032A>T (p.Val2344=)
c.7035A>T (p.Val2345=)
n.5298A>T
c.8256A>T (p.Val2752=)
c.7635A>T (p.Val2545=)
c.8355A>T (p.Val2785=)
c.8853A>T (p.Val2951=)
c.6450A>T (p.Val2150=)
2g.237336244T>CCA431701092COL6A3c.1501A>G
c.8238A>G (p.Val2746=)
c.983A>G
n.1123A>G
c.8856A>G (p.Val2952=)
c.7032A>G (p.Val2344=)
c.7035A>G (p.Val2345=)
n.5298A>G
c.8256A>G (p.Val2752=)
c.7635A>G (p.Val2545=)
c.8355A>G (p.Val2785=)
c.8853A>G (p.Val2951=)
c.6450A>G (p.Val2150=)
2g.237336244T>GCA431701089COL6A3c.1501A>C
c.8238A>C (p.Val2746=)
c.983A>C
n.1123A>C
c.8856A>C (p.Val2952=)
c.7032A>C (p.Val2344=)
c.7035A>C (p.Val2345=)
n.5298A>C
c.8256A>C (p.Val2752=)
c.7635A>C (p.Val2545=)
c.8355A>C (p.Val2785=)
c.8853A>C (p.Val2951=)
c.6450A>C (p.Val2150=)
2g.237336244T=CA1337607099COL6A3c.1501A=
c.8238A= (p.Val2746=)
c.983A=
n.1123A=
c.8856A= (p.Val2952=)
c.7032A= (p.Val2344=)
c.7035A= (p.Val2345=)
n.5298A=
c.8256A= (p.Val2752=)
c.7635A= (p.Val2545=)
c.8355A= (p.Val2785=)
c.8853A= (p.Val2951=)
c.6450A= (p.Val2150=)
2g.237336245A>CCA351191216COL6A3c.1500T>G
c.8237T>G (p.Val2746Gly)
c.982T>G
n.1122T>G
c.8855T>G (p.Val2952Gly)
c.7031T>G (p.Val2344Gly)
c.7034T>G (p.Val2345Gly)
n.5297T>G
c.8255T>G (p.Val2752Gly)
c.7634T>G (p.Val2545Gly)
c.8354T>G (p.Val2785Gly)
c.8852T>G (p.Val2951Gly)
c.6449T>G (p.Val2150Gly)
2g.237336245A>GCA351191217COL6A3c.1500T>C
c.8237T>C (p.Val2746Ala)
c.982T>C
n.1122T>C
c.8855T>C (p.Val2952Ala)
c.7031T>C (p.Val2344Ala)
c.7034T>C (p.Val2345Ala)
n.5297T>C
c.8255T>C (p.Val2752Ala)
c.7634T>C (p.Val2545Ala)
c.8354T>C (p.Val2785Ala)
c.8852T>C (p.Val2951Ala)
c.6449T>C (p.Val2150Ala)
2g.237336245A>TCA351191218COL6A3c.1500T>A
c.8237T>A (p.Val2746Glu)
c.982T>A
n.1122T>A
c.8855T>A (p.Val2952Glu)
c.7031T>A (p.Val2344Glu)
c.7034T>A (p.Val2345Glu)
n.5297T>A
c.8255T>A (p.Val2752Glu)
c.7634T>A (p.Val2545Glu)
c.8354T>A (p.Val2785Glu)
c.8852T>A (p.Val2951Glu)
c.6449T>A (p.Val2150Glu)
2g.237336245dupCA1337607100COL6A3c.1500dup
c.8237dup (p.Arg2747LysfsTer16)
c.982dup
n.1122dup
c.8855dup (p.Arg2953LysfsTer16)
c.7031dup (p.Arg2345LysfsTer16)
c.7034dup (p.Arg2346LysfsTer16)
n.5297dup
c.8255dup (p.Arg2753LysfsTer16)
c.7634dup (p.Arg2546LysfsTer16)
c.8354dup (p.Arg2786LysfsTer16)
c.8852dup (p.Arg2952LysfsTer16)
c.6449dup (p.Arg2151LysfsTer16)
 dbSNP
2g.237336246C>ACA351191219COL6A3c.1499G>T
c.8236G>T (p.Val2746Leu)
c.981G>T
n.1121G>T
c.8854G>T (p.Val2952Leu)
c.7030G>T (p.Val2344Leu)
c.7033G>T (p.Val2345Leu)
n.5296G>T
c.8254G>T (p.Val2752Leu)
c.7633G>T (p.Val2545Leu)
c.8353G>T (p.Val2785Leu)
c.8851G>T (p.Val2951Leu)
c.6448G>T (p.Val2150Leu)
2g.237336246C=CA1337607101COL6A3c.1499G=
c.8236G= (p.Val2746=)
c.981G=
n.1121G=
c.8854G= (p.Val2952=)
c.7030G= (p.Val2344=)
c.7033G= (p.Val2345=)
n.5296G=
c.8254G= (p.Val2752=)
c.7633G= (p.Val2545=)
c.8353G= (p.Val2785=)
c.8851G= (p.Val2951=)
c.6448G= (p.Val2150=)
2g.237336246C>GCA351191220COL6A3c.1499G>C
c.8236G>C (p.Val2746Leu)
c.981G>C
n.1121G>C
c.8854G>C (p.Val2952Leu)
c.7030G>C (p.Val2344Leu)
c.7033G>C (p.Val2345Leu)
n.5296G>C
c.8254G>C (p.Val2752Leu)
c.7633G>C (p.Val2545Leu)
c.8353G>C (p.Val2785Leu)
c.8851G>C (p.Val2951Leu)
c.6448G>C (p.Val2150Leu)
2g.237336246C>TCA2187430COL6A3c.1499G>A
c.8236G>A (p.Val2746Ile)
c.981G>A
n.1121G>A
c.8854G>A (p.Val2952Ile)
c.7030G>A (p.Val2344Ile)
c.7033G>A (p.Val2345Ile)
n.5296G>A
c.8254G>A (p.Val2752Ile)
c.7633G>A (p.Val2545Ile)
c.8353G>A (p.Val2785Ile)
c.8851G>A (p.Val2951Ile)
c.6448G>A (p.Val2150Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336247A>CCA431701120COL6A3c.1498T>G
c.8235T>G (p.Ala2745=)
c.980T>G
n.1120T>G
c.8853T>G (p.Ala2951=)
c.7029T>G (p.Ala2343=)
c.7032T>G (p.Ala2344=)
n.5295T>G
c.8253T>G (p.Ala2751=)
c.7632T>G (p.Ala2544=)
c.8352T>G (p.Ala2784=)
c.8850T>G (p.Ala2950=)
c.6447T>G (p.Ala2149=)
2g.237336247A>GCA431701113COL6A3c.1498T>C
c.8235T>C (p.Ala2745=)
c.980T>C
n.1120T>C
c.8853T>C (p.Ala2951=)
c.7029T>C (p.Ala2343=)
c.7032T>C (p.Ala2344=)
n.5295T>C
c.8253T>C (p.Ala2751=)
c.7632T>C (p.Ala2544=)
c.8352T>C (p.Ala2784=)
c.8850T>C (p.Ala2950=)
c.6447T>C (p.Ala2149=)
2g.237336247A>TCA431701116COL6A3c.1498T>A
c.8235T>A (p.Ala2745=)
c.980T>A
n.1120T>A
c.8853T>A (p.Ala2951=)
c.7029T>A (p.Ala2343=)
c.7032T>A (p.Ala2344=)
n.5295T>A
c.8253T>A (p.Ala2751=)
c.7632T>A (p.Ala2544=)
c.8352T>A (p.Ala2784=)
c.8850T>A (p.Ala2950=)
c.6447T>A (p.Ala2149=)
2g.237336248G>ACA351191225COL6A3c.1497C>T
c.8234C>T (p.Ala2745Val)
c.979C>T
n.1119C>T
c.8852C>T (p.Ala2951Val)
c.7028C>T (p.Ala2343Val)
c.7031C>T (p.Ala2344Val)
n.5294C>T
c.8252C>T (p.Ala2751Val)
c.7631C>T (p.Ala2544Val)
c.8351C>T (p.Ala2784Val)
c.8849C>T (p.Ala2950Val)
c.6446C>T (p.Ala2149Val)
 gnomAD v4
2g.237336248G>CCA351191223COL6A3c.1497C>G
c.8234C>G (p.Ala2745Gly)
c.979C>G
n.1119C>G
c.8852C>G (p.Ala2951Gly)
c.7028C>G (p.Ala2343Gly)
c.7031C>G (p.Ala2344Gly)
n.5294C>G
c.8252C>G (p.Ala2751Gly)
c.7631C>G (p.Ala2544Gly)
c.8351C>G (p.Ala2784Gly)
c.8849C>G (p.Ala2950Gly)
c.6446C>G (p.Ala2149Gly)
2g.237336248G>TCA351191221COL6A3c.1497C>A
c.8234C>A (p.Ala2745Asp)
c.979C>A
n.1119C>A
c.8852C>A (p.Ala2951Asp)
c.7028C>A (p.Ala2343Asp)
c.7031C>A (p.Ala2344Asp)
n.5294C>A
c.8252C>A (p.Ala2751Asp)
c.7631C>A (p.Ala2544Asp)
c.8351C>A (p.Ala2784Asp)
c.8849C>A (p.Ala2950Asp)
c.6446C>A (p.Ala2149Asp)
2g.237336249C>ACA351191228COL6A3c.1496G>T
c.8233G>T (p.Ala2745Ser)
c.978G>T
n.1118G>T
c.8851G>T (p.Ala2951Ser)
c.7027G>T (p.Ala2343Ser)
c.7030G>T (p.Ala2344Ser)
n.5293G>T
c.8251G>T (p.Ala2751Ser)
c.7630G>T (p.Ala2544Ser)
c.8350G>T (p.Ala2784Ser)
c.8848G>T (p.Ala2950Ser)
c.6445G>T (p.Ala2149Ser)
 gnomAD v4
2g.237336249C=CA1337607102COL6A3c.1496G=
c.8233G= (p.Ala2745=)
c.978G=
n.1118G=
c.8851G= (p.Ala2951=)
c.7027G= (p.Ala2343=)
c.7030G= (p.Ala2344=)
n.5293G=
c.8251G= (p.Ala2751=)
c.7630G= (p.Ala2544=)
c.8350G= (p.Ala2784=)
c.8848G= (p.Ala2950=)
c.6445G= (p.Ala2149=)
2g.237336249C>GCA2187431COL6A3c.1496G>C
c.8233G>C (p.Ala2745Pro)
c.978G>C
n.1118G>C
c.8851G>C (p.Ala2951Pro)
c.7027G>C (p.Ala2343Pro)
c.7030G>C (p.Ala2344Pro)
n.5293G>C
c.8251G>C (p.Ala2751Pro)
c.7630G>C (p.Ala2544Pro)
c.8350G>C (p.Ala2784Pro)
c.8848G>C (p.Ala2950Pro)
c.6445G>C (p.Ala2149Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336249C>TCA351191231COL6A3c.1496G>A
c.8233G>A (p.Ala2745Thr)
c.978G>A
n.1118G>A
c.8851G>A (p.Ala2951Thr)
c.7027G>A (p.Ala2343Thr)
c.7030G>A (p.Ala2344Thr)
n.5293G>A
c.8251G>A (p.Ala2751Thr)
c.7630G>A (p.Ala2544Thr)
c.8350G>A (p.Ala2784Thr)
c.8848G>A (p.Ala2950Thr)
c.6445G>A (p.Ala2149Thr)
 gnomAD v4
2g.237336250T>ACA431701151COL6A3c.1495A>T
c.8232A>T (p.Ala2744=)
c.977A>T
n.1117A>T
c.8850A>T (p.Ala2950=)
c.7026A>T (p.Ala2342=)
c.7029A>T (p.Ala2343=)
n.5292A>T
c.8250A>T (p.Ala2750=)
c.7629A>T (p.Ala2543=)
c.8349A>T (p.Ala2783=)
c.8847A>T (p.Ala2949=)
c.6444A>T (p.Ala2148=)
2g.237336250T>CCA431701153COL6A3c.1495A>G
c.8232A>G (p.Ala2744=)
c.977A>G
n.1117A>G
c.8850A>G (p.Ala2950=)
c.7026A>G (p.Ala2342=)
c.7029A>G (p.Ala2343=)
n.5292A>G
c.8250A>G (p.Ala2750=)
c.7629A>G (p.Ala2543=)
c.8349A>G (p.Ala2783=)
c.8847A>G (p.Ala2949=)
c.6444A>G (p.Ala2148=)
2g.237336250T>GCA431701163COL6A3c.1495A>C
c.8232A>C (p.Ala2744=)
c.977A>C
n.1117A>C
c.8850A>C (p.Ala2950=)
c.7026A>C (p.Ala2342=)
c.7029A>C (p.Ala2343=)
n.5292A>C
c.8250A>C (p.Ala2750=)
c.7629A>C (p.Ala2543=)
c.8349A>C (p.Ala2783=)
c.8847A>C (p.Ala2949=)
c.6444A>C (p.Ala2148=)
2g.237336251G>ACA351191235COL6A3c.1494C>T
c.8231C>T (p.Ala2744Val)
c.976C>T
n.1116C>T
c.8849C>T (p.Ala2950Val)
c.7025C>T (p.Ala2342Val)
c.7028C>T (p.Ala2343Val)
n.5291C>T
c.8249C>T (p.Ala2750Val)
c.7628C>T (p.Ala2543Val)
c.8348C>T (p.Ala2783Val)
c.8846C>T (p.Ala2949Val)
c.6443C>T (p.Ala2148Val)
2g.237336251G>CCA351191237COL6A3c.1494C>G
c.8231C>G (p.Ala2744Gly)
c.976C>G
n.1116C>G
c.8849C>G (p.Ala2950Gly)
c.7025C>G (p.Ala2342Gly)
c.7028C>G (p.Ala2343Gly)
n.5291C>G
c.8249C>G (p.Ala2750Gly)
c.7628C>G (p.Ala2543Gly)
c.8348C>G (p.Ala2783Gly)
c.8846C>G (p.Ala2949Gly)
c.6443C>G (p.Ala2148Gly)
2g.237336251G>TCA351191239COL6A3c.1494C>A
c.8231C>A (p.Ala2744Glu)
c.976C>A
n.1116C>A
c.8849C>A (p.Ala2950Glu)
c.7025C>A (p.Ala2342Glu)
c.7028C>A (p.Ala2343Glu)
n.5291C>A
c.8249C>A (p.Ala2750Glu)
c.7628C>A (p.Ala2543Glu)
c.8348C>A (p.Ala2783Glu)
c.8846C>A (p.Ala2949Glu)
c.6443C>A (p.Ala2148Glu)
2g.237336252C>ACA351191242COL6A3c.1493G>T
c.8230G>T (p.Ala2744Ser)
c.975G>T
n.1115G>T
c.8848G>T (p.Ala2950Ser)
c.7024G>T (p.Ala2342Ser)
c.7027G>T (p.Ala2343Ser)
n.5290G>T
c.8248G>T (p.Ala2750Ser)
c.7627G>T (p.Ala2543Ser)
c.8347G>T (p.Ala2783Ser)
c.8845G>T (p.Ala2949Ser)
c.6442G>T (p.Ala2148Ser)
2g.237336252C>GCA351191244COL6A3c.1493G>C
c.8230G>C (p.Ala2744Pro)
c.975G>C
n.1115G>C
c.8848G>C (p.Ala2950Pro)
c.7024G>C (p.Ala2342Pro)
c.7027G>C (p.Ala2343Pro)
n.5290G>C
c.8248G>C (p.Ala2750Pro)
c.7627G>C (p.Ala2543Pro)
c.8347G>C (p.Ala2783Pro)
c.8845G>C (p.Ala2949Pro)
c.6442G>C (p.Ala2148Pro)
2g.237336252C>TCA351191246COL6A3c.1493G>A
c.8230G>A (p.Ala2744Thr)
c.975G>A
n.1115G>A
c.8848G>A (p.Ala2950Thr)
c.7024G>A (p.Ala2342Thr)
c.7027G>A (p.Ala2343Thr)
n.5290G>A
c.8248G>A (p.Ala2750Thr)
c.7627G>A (p.Ala2543Thr)
c.8347G>A (p.Ala2783Thr)
c.8845G>A (p.Ala2949Thr)
c.6442G>A (p.Ala2148Thr)
 gnomAD v4
2g.237336253T>ACA431701183COL6A3c.1492A>T
c.8229A>T (p.Pro2743=)
c.974A>T
n.1114A>T
c.8847A>T (p.Pro2949=)
c.7023A>T (p.Pro2341=)
c.7026A>T (p.Pro2342=)
n.5289A>T
c.8247A>T (p.Pro2749=)
c.7626A>T (p.Pro2542=)
c.8346A>T (p.Pro2782=)
c.8844A>T (p.Pro2948=)
c.6441A>T (p.Pro2147=)
2g.237336253T>CCA2187432COL6A3c.1492A>G
c.8229A>G (p.Pro2743=)
c.974A>G
n.1114A>G
c.8847A>G (p.Pro2949=)
c.7023A>G (p.Pro2341=)
c.7026A>G (p.Pro2342=)
n.5289A>G
c.8247A>G (p.Pro2749=)
c.7626A>G (p.Pro2542=)
c.8346A>G (p.Pro2782=)
c.8844A>G (p.Pro2948=)
c.6441A>G (p.Pro2147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336253T>GCA431701190COL6A3c.1492A>C
c.8229A>C (p.Pro2743=)
c.974A>C
n.1114A>C
c.8847A>C (p.Pro2949=)
c.7023A>C (p.Pro2341=)
c.7026A>C (p.Pro2342=)
n.5289A>C
c.8247A>C (p.Pro2749=)
c.7626A>C (p.Pro2542=)
c.8346A>C (p.Pro2782=)
c.8844A>C (p.Pro2948=)
c.6441A>C (p.Pro2147=)
2g.237336253T=CA1337607103COL6A3c.1492A=
c.8229A= (p.Pro2743=)
c.974A=
n.1114A=
c.8847A= (p.Pro2949=)
c.7023A= (p.Pro2341=)
c.7026A= (p.Pro2342=)
n.5289A=
c.8247A= (p.Pro2749=)
c.7626A= (p.Pro2542=)
c.8346A= (p.Pro2782=)
c.8844A= (p.Pro2948=)
c.6441A= (p.Pro2147=)

Number of alleles fetched