Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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=)
2g.237336254G>ACA2187433COL6A3c.1491C>T
c.8228C>T (p.Pro2743Leu)
c.973C>T
n.1113C>T
c.8846C>T (p.Pro2949Leu)
c.7022C>T (p.Pro2341Leu)
c.7025C>T (p.Pro2342Leu)
n.5288C>T
c.8246C>T (p.Pro2749Leu)
c.7625C>T (p.Pro2542Leu)
c.8345C>T (p.Pro2782Leu)
c.8843C>T (p.Pro2948Leu)
c.6440C>T (p.Pro2147Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336254G>CCA351191252COL6A3c.1491C>G
c.8228C>G (p.Pro2743Arg)
c.973C>G
n.1113C>G
c.8846C>G (p.Pro2949Arg)
c.7022C>G (p.Pro2341Arg)
c.7025C>G (p.Pro2342Arg)
n.5288C>G
c.8246C>G (p.Pro2749Arg)
c.7625C>G (p.Pro2542Arg)
c.8345C>G (p.Pro2782Arg)
c.8843C>G (p.Pro2948Arg)
c.6440C>G (p.Pro2147Arg)
 gnomAD v4
2g.237336254G=CA1337607104COL6A3c.1491C=
c.8228C= (p.Pro2743=)
c.973C=
n.1113C=
c.8846C= (p.Pro2949=)
c.7022C= (p.Pro2341=)
c.7025C= (p.Pro2342=)
n.5288C=
c.8246C= (p.Pro2749=)
c.7625C= (p.Pro2542=)
c.8345C= (p.Pro2782=)
c.8843C= (p.Pro2948=)
c.6440C= (p.Pro2147=)
2g.237336254G>TCA351191254COL6A3c.1491C>A
c.8228C>A (p.Pro2743Gln)
c.973C>A
n.1113C>A
c.8846C>A (p.Pro2949Gln)
c.7022C>A (p.Pro2341Gln)
c.7025C>A (p.Pro2342Gln)
n.5288C>A
c.8246C>A (p.Pro2749Gln)
c.7625C>A (p.Pro2542Gln)
c.8345C>A (p.Pro2782Gln)
c.8843C>A (p.Pro2948Gln)
c.6440C>A (p.Pro2147Gln)
2g.237336255G>ACA351191261COL6A3c.1490C>T
c.8227C>T (p.Pro2743Ser)
c.972C>T
n.1112C>T
c.8845C>T (p.Pro2949Ser)
c.7021C>T (p.Pro2341Ser)
c.7024C>T (p.Pro2342Ser)
n.5287C>T
c.8245C>T (p.Pro2749Ser)
c.7624C>T (p.Pro2542Ser)
c.8344C>T (p.Pro2782Ser)
c.8842C>T (p.Pro2948Ser)
c.6439C>T (p.Pro2147Ser)
2g.237336255G>CCA351191259COL6A3c.1490C>G
c.8227C>G (p.Pro2743Ala)
c.972C>G
n.1112C>G
c.8845C>G (p.Pro2949Ala)
c.7021C>G (p.Pro2341Ala)
c.7024C>G (p.Pro2342Ala)
n.5287C>G
c.8245C>G (p.Pro2749Ala)
c.7624C>G (p.Pro2542Ala)
c.8344C>G (p.Pro2782Ala)
c.8842C>G (p.Pro2948Ala)
c.6439C>G (p.Pro2147Ala)
2g.237336255G>TCA351191257COL6A3c.1490C>A
c.8227C>A (p.Pro2743Thr)
c.972C>A
n.1112C>A
c.8845C>A (p.Pro2949Thr)
c.7021C>A (p.Pro2341Thr)
c.7024C>A (p.Pro2342Thr)
n.5287C>A
c.8245C>A (p.Pro2749Thr)
c.7624C>A (p.Pro2542Thr)
c.8344C>A (p.Pro2782Thr)
c.8842C>A (p.Pro2948Thr)
c.6439C>A (p.Pro2147Thr)
2g.237336256C>ACA351191264COL6A3c.1489G>T
c.8226G>T (p.Lys2742Asn)
c.971G>T
n.1111G>T
c.8844G>T (p.Lys2948Asn)
c.7020G>T (p.Lys2340Asn)
c.7023G>T (p.Lys2341Asn)
n.5286G>T
c.8244G>T (p.Lys2748Asn)
c.7623G>T (p.Lys2541Asn)
c.8343G>T (p.Lys2781Asn)
c.8841G>T (p.Lys2947Asn)
c.6438G>T (p.Lys2146Asn)
2g.237336256C>GCA351191266COL6A3c.1489G>C
c.8226G>C (p.Lys2742Asn)
c.971G>C
n.1111G>C
c.8844G>C (p.Lys2948Asn)
c.7020G>C (p.Lys2340Asn)
c.7023G>C (p.Lys2341Asn)
n.5286G>C
c.8244G>C (p.Lys2748Asn)
c.7623G>C (p.Lys2541Asn)
c.8343G>C (p.Lys2781Asn)
c.8841G>C (p.Lys2947Asn)
c.6438G>C (p.Lys2146Asn)
2g.237336256C>TCA431701214COL6A3c.1489G>A
c.8226G>A (p.Lys2742=)
c.971G>A
n.1111G>A
c.8844G>A (p.Lys2948=)
c.7020G>A (p.Lys2340=)
c.7023G>A (p.Lys2341=)
n.5286G>A
c.8244G>A (p.Lys2748=)
c.7623G>A (p.Lys2541=)
c.8343G>A (p.Lys2781=)
c.8841G>A (p.Lys2947=)
c.6438G>A (p.Lys2146=)
2g.237336257T>ACA351191269COL6A3c.1488A>T
c.8225A>T (p.Lys2742Met)
c.970A>T
n.1110A>T
c.8843A>T (p.Lys2948Met)
c.7019A>T (p.Lys2340Met)
c.7022A>T (p.Lys2341Met)
n.5285A>T
c.8243A>T (p.Lys2748Met)
c.7622A>T (p.Lys2541Met)
c.8342A>T (p.Lys2781Met)
c.8840A>T (p.Lys2947Met)
c.6437A>T (p.Lys2146Met)
2g.237336257T>CCA351191271COL6A3c.1488A>G
c.8225A>G (p.Lys2742Arg)
c.970A>G
n.1110A>G
c.8843A>G (p.Lys2948Arg)
c.7019A>G (p.Lys2340Arg)
c.7022A>G (p.Lys2341Arg)
n.5285A>G
c.8243A>G (p.Lys2748Arg)
c.7622A>G (p.Lys2541Arg)
c.8342A>G (p.Lys2781Arg)
c.8840A>G (p.Lys2947Arg)
c.6437A>G (p.Lys2146Arg)
2g.237336257T>GCA351191273COL6A3c.1488A>C
c.8225A>C (p.Lys2742Thr)
c.970A>C
n.1110A>C
c.8843A>C (p.Lys2948Thr)
c.7019A>C (p.Lys2340Thr)
c.7022A>C (p.Lys2341Thr)
n.5285A>C
c.8243A>C (p.Lys2748Thr)
c.7622A>C (p.Lys2541Thr)
c.8342A>C (p.Lys2781Thr)
c.8840A>C (p.Lys2947Thr)
c.6437A>C (p.Lys2146Thr)
2g.237336258T>ACA351191276COL6A3c.1487A>T
c.8224A>T (p.Lys2742Ter)
c.969A>T
n.1109A>T
c.8842A>T (p.Lys2948Ter)
c.7018A>T (p.Lys2340Ter)
c.7021A>T (p.Lys2341Ter)
n.5284A>T
c.8242A>T (p.Lys2748Ter)
c.7621A>T (p.Lys2541Ter)
c.8341A>T (p.Lys2781Ter)
c.8839A>T (p.Lys2947Ter)
c.6436A>T (p.Lys2146Ter)
2g.237336258T>CCA351191278COL6A3c.1487A>G
c.8224A>G (p.Lys2742Glu)
c.969A>G
n.1109A>G
c.8842A>G (p.Lys2948Glu)
c.7018A>G (p.Lys2340Glu)
c.7021A>G (p.Lys2341Glu)
n.5284A>G
c.8242A>G (p.Lys2748Glu)
c.7621A>G (p.Lys2541Glu)
c.8341A>G (p.Lys2781Glu)
c.8839A>G (p.Lys2947Glu)
c.6436A>G (p.Lys2146Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336258T>GCA351191280COL6A3c.1487A>C
c.8224A>C (p.Lys2742Gln)
c.969A>C
n.1109A>C
c.8842A>C (p.Lys2948Gln)
c.7018A>C (p.Lys2340Gln)
c.7021A>C (p.Lys2341Gln)
n.5284A>C
c.8242A>C (p.Lys2748Gln)
c.7621A>C (p.Lys2541Gln)
c.8341A>C (p.Lys2781Gln)
c.8839A>C (p.Lys2947Gln)
c.6436A>C (p.Lys2146Gln)
2g.237336258T=CA1337607105COL6A3c.1487A=
c.8224A= (p.Lys2742=)
c.969A=
n.1109A=
c.8842A= (p.Lys2948=)
c.7018A= (p.Lys2340=)
c.7021A= (p.Lys2341=)
n.5284A=
c.8242A= (p.Lys2748=)
c.7621A= (p.Lys2541=)
c.8341A= (p.Lys2781=)
c.8839A= (p.Lys2947=)
c.6436A= (p.Lys2146=)
2g.237336259T>ACA431701229COL6A3c.1486A>T
c.8223A>T (p.Ala2741=)
c.968A>T
n.1108A>T
c.8841A>T (p.Ala2947=)
c.7017A>T (p.Ala2339=)
c.7020A>T (p.Ala2340=)
n.5283A>T
c.8241A>T (p.Ala2747=)
c.7620A>T (p.Ala2540=)
c.8340A>T (p.Ala2780=)
c.8838A>T (p.Ala2946=)
c.6435A>T (p.Ala2145=)
2g.237336259T>CCA431701231COL6A3c.1486A>G
c.8223A>G (p.Ala2741=)
c.968A>G
n.1108A>G
c.8841A>G (p.Ala2947=)
c.7017A>G (p.Ala2339=)
c.7020A>G (p.Ala2340=)
n.5283A>G
c.8241A>G (p.Ala2747=)
c.7620A>G (p.Ala2540=)
c.8340A>G (p.Ala2780=)
c.8838A>G (p.Ala2946=)
c.6435A>G (p.Ala2145=)
2g.237336259T>GCA431701233COL6A3c.1486A>C
c.8223A>C (p.Ala2741=)
c.968A>C
n.1108A>C
c.8841A>C (p.Ala2947=)
c.7017A>C (p.Ala2339=)
c.7020A>C (p.Ala2340=)
n.5283A>C
c.8241A>C (p.Ala2747=)
c.7620A>C (p.Ala2540=)
c.8340A>C (p.Ala2780=)
c.8838A>C (p.Ala2946=)
c.6435A>C (p.Ala2145=)
2g.237336260G>ACA351191284COL6A3c.1485C>T
c.8222C>T (p.Ala2741Val)
c.967C>T
n.1107C>T
c.8840C>T (p.Ala2947Val)
c.7016C>T (p.Ala2339Val)
c.7019C>T (p.Ala2340Val)
n.5282C>T
c.8240C>T (p.Ala2747Val)
c.7619C>T (p.Ala2540Val)
c.8339C>T (p.Ala2780Val)
c.8837C>T (p.Ala2946Val)
c.6434C>T (p.Ala2145Val)
2g.237336260G>CCA351191286COL6A3c.1485C>G
c.8222C>G (p.Ala2741Gly)
c.967C>G
n.1107C>G
c.8840C>G (p.Ala2947Gly)
c.7016C>G (p.Ala2339Gly)
c.7019C>G (p.Ala2340Gly)
n.5282C>G
c.8240C>G (p.Ala2747Gly)
c.7619C>G (p.Ala2540Gly)
c.8339C>G (p.Ala2780Gly)
c.8837C>G (p.Ala2946Gly)
c.6434C>G (p.Ala2145Gly)
2g.237336260G>TCA351191288COL6A3c.1485C>A
c.8222C>A (p.Ala2741Glu)
c.967C>A
n.1107C>A
c.8840C>A (p.Ala2947Glu)
c.7016C>A (p.Ala2339Glu)
c.7019C>A (p.Ala2340Glu)
n.5282C>A
c.8240C>A (p.Ala2747Glu)
c.7619C>A (p.Ala2540Glu)
c.8339C>A (p.Ala2780Glu)
c.8837C>A (p.Ala2946Glu)
c.6434C>A (p.Ala2145Glu)
2g.237336261C>ACA351191291COL6A3c.1484G>T
c.8221G>T (p.Ala2741Ser)
c.966G>T
n.1106G>T
c.8839G>T (p.Ala2947Ser)
c.7015G>T (p.Ala2339Ser)
c.7018G>T (p.Ala2340Ser)
n.5281G>T
c.8239G>T (p.Ala2747Ser)
c.7618G>T (p.Ala2540Ser)
c.8338G>T (p.Ala2780Ser)
c.8836G>T (p.Ala2946Ser)
c.6433G>T (p.Ala2145Ser)
2g.237336261C=CA1337607106COL6A3c.1484G=
c.8221G= (p.Ala2741=)
c.966G=
n.1106G=
c.8839G= (p.Ala2947=)
c.7015G= (p.Ala2339=)
c.7018G= (p.Ala2340=)
n.5281G=
c.8239G= (p.Ala2747=)
c.7618G= (p.Ala2540=)
c.8338G= (p.Ala2780=)
c.8836G= (p.Ala2946=)
c.6433G= (p.Ala2145=)
2g.237336261C>GCA351191293COL6A3c.1484G>C
c.8221G>C (p.Ala2741Pro)
c.966G>C
n.1106G>C
c.8839G>C (p.Ala2947Pro)
c.7015G>C (p.Ala2339Pro)
c.7018G>C (p.Ala2340Pro)
n.5281G>C
c.8239G>C (p.Ala2747Pro)
c.7618G>C (p.Ala2540Pro)
c.8338G>C (p.Ala2780Pro)
c.8836G>C (p.Ala2946Pro)
c.6433G>C (p.Ala2145Pro)
2g.237336261C>TCA2187434COL6A3c.1484G>A
c.8221G>A (p.Ala2741Thr)
c.966G>A
n.1106G>A
c.8839G>A (p.Ala2947Thr)
c.7015G>A (p.Ala2339Thr)
c.7018G>A (p.Ala2340Thr)
n.5281G>A
c.8239G>A (p.Ala2747Thr)
c.7618G>A (p.Ala2540Thr)
c.8338G>A (p.Ala2780Thr)
c.8836G>A (p.Ala2946Thr)
c.6433G>A (p.Ala2145Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336262T>ACA431701249COL6A3c.1483A>T
c.8220A>T (p.Ala2740=)
c.965A>T
n.1105A>T
c.8838A>T (p.Ala2946=)
c.7014A>T (p.Ala2338=)
c.7017A>T (p.Ala2339=)
n.5280A>T
c.8238A>T (p.Ala2746=)
c.7617A>T (p.Ala2539=)
c.8337A>T (p.Ala2779=)
c.8835A>T (p.Ala2945=)
c.6432A>T (p.Ala2144=)
2g.237336262T>CCA431701251COL6A3c.1483A>G
c.8220A>G (p.Ala2740=)
c.965A>G
n.1105A>G
c.8838A>G (p.Ala2946=)
c.7014A>G (p.Ala2338=)
c.7017A>G (p.Ala2339=)
n.5280A>G
c.8238A>G (p.Ala2746=)
c.7617A>G (p.Ala2539=)
c.8337A>G (p.Ala2779=)
c.8835A>G (p.Ala2945=)
c.6432A>G (p.Ala2144=)
 dbSNP gnomAD v3 gnomAD v4
2g.237336262T>GCA431701255COL6A3c.1483A>C
c.8220A>C (p.Ala2740=)
c.965A>C
n.1105A>C
c.8838A>C (p.Ala2946=)
c.7014A>C (p.Ala2338=)
c.7017A>C (p.Ala2339=)
n.5280A>C
c.8238A>C (p.Ala2746=)
c.7617A>C (p.Ala2539=)
c.8337A>C (p.Ala2779=)
c.8835A>C (p.Ala2945=)
c.6432A>C (p.Ala2144=)
2g.237336262T=CA1337607107COL6A3c.1483A=
c.8220A= (p.Ala2740=)
c.965A=
n.1105A=
c.8838A= (p.Ala2946=)
c.7014A= (p.Ala2338=)
c.7017A= (p.Ala2339=)
n.5280A=
c.8238A= (p.Ala2746=)
c.7617A= (p.Ala2539=)
c.8337A= (p.Ala2779=)
c.8835A= (p.Ala2945=)
c.6432A= (p.Ala2144=)
2g.237336263G>ACA351191297COL6A3c.1482C>T
c.8219C>T (p.Ala2740Val)
c.964C>T
n.1104C>T
c.8837C>T (p.Ala2946Val)
c.7013C>T (p.Ala2338Val)
c.7016C>T (p.Ala2339Val)
n.5279C>T
c.8237C>T (p.Ala2746Val)
c.7616C>T (p.Ala2539Val)
c.8336C>T (p.Ala2779Val)
c.8834C>T (p.Ala2945Val)
c.6431C>T (p.Ala2144Val)
2g.237336263G>CCA351191299COL6A3c.1482C>G
c.8219C>G (p.Ala2740Gly)
c.964C>G
n.1104C>G
c.8837C>G (p.Ala2946Gly)
c.7013C>G (p.Ala2338Gly)
c.7016C>G (p.Ala2339Gly)
n.5279C>G
c.8237C>G (p.Ala2746Gly)
c.7616C>G (p.Ala2539Gly)
c.8336C>G (p.Ala2779Gly)
c.8834C>G (p.Ala2945Gly)
c.6431C>G (p.Ala2144Gly)
2g.237336263G>TCA351191295COL6A3c.1482C>A
c.8219C>A (p.Ala2740Glu)
c.964C>A
n.1104C>A
c.8837C>A (p.Ala2946Glu)
c.7013C>A (p.Ala2338Glu)
c.7016C>A (p.Ala2339Glu)
n.5279C>A
c.8237C>A (p.Ala2746Glu)
c.7616C>A (p.Ala2539Glu)
c.8336C>A (p.Ala2779Glu)
c.8834C>A (p.Ala2945Glu)
c.6431C>A (p.Ala2144Glu)
2g.237336264C>ACA351191303COL6A3c.1481G>T
c.8218G>T (p.Ala2740Ser)
c.963G>T
n.1103G>T
c.8836G>T (p.Ala2946Ser)
c.7012G>T (p.Ala2338Ser)
c.7015G>T (p.Ala2339Ser)
n.5278G>T
c.8236G>T (p.Ala2746Ser)
c.7615G>T (p.Ala2539Ser)
c.8335G>T (p.Ala2779Ser)
c.8833G>T (p.Ala2945Ser)
c.6430G>T (p.Ala2144Ser)
 COSMIC
2g.237336264C=CA1337607108COL6A3c.1481G=
c.8218G= (p.Ala2740=)
c.963G=
n.1103G=
c.8836G= (p.Ala2946=)
c.7012G= (p.Ala2338=)
c.7015G= (p.Ala2339=)
n.5278G=
c.8236G= (p.Ala2746=)
c.7615G= (p.Ala2539=)
c.8335G= (p.Ala2779=)
c.8833G= (p.Ala2945=)
c.6430G= (p.Ala2144=)
2g.237336264C>GCA351191304COL6A3c.1481G>C
c.8218G>C (p.Ala2740Pro)
c.963G>C
n.1103G>C
c.8836G>C (p.Ala2946Pro)
c.7012G>C (p.Ala2338Pro)
c.7015G>C (p.Ala2339Pro)
n.5278G>C
c.8236G>C (p.Ala2746Pro)
c.7615G>C (p.Ala2539Pro)
c.8335G>C (p.Ala2779Pro)
c.8833G>C (p.Ala2945Pro)
c.6430G>C (p.Ala2144Pro)
2g.237336264C>TCA2187435COL6A3c.1481G>A
c.8218G>A (p.Ala2740Thr)
c.963G>A
n.1103G>A
c.8836G>A (p.Ala2946Thr)
c.7012G>A (p.Ala2338Thr)
c.7015G>A (p.Ala2339Thr)
n.5278G>A
c.8236G>A (p.Ala2746Thr)
c.7615G>A (p.Ala2539Thr)
c.8335G>A (p.Ala2779Thr)
c.8833G>A (p.Ala2945Thr)
c.6430G>A (p.Ala2144Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336265T>ACA431701277COL6A3c.1480A>T
c.8217A>T (p.Val2739=)
c.962A>T
n.1102A>T
c.8835A>T (p.Val2945=)
c.7011A>T (p.Val2337=)
c.7014A>T (p.Val2338=)
n.5277A>T
c.8235A>T (p.Val2745=)
c.7614A>T (p.Val2538=)
c.8334A>T (p.Val2778=)
c.8832A>T (p.Val2944=)
c.6429A>T (p.Val2143=)
2g.237336265T>CCA431701281COL6A3c.1480A>G
c.8217A>G (p.Val2739=)
c.962A>G
n.1102A>G
c.8835A>G (p.Val2945=)
c.7011A>G (p.Val2337=)
c.7014A>G (p.Val2338=)
n.5277A>G
c.8235A>G (p.Val2745=)
c.7614A>G (p.Val2538=)
c.8334A>G (p.Val2778=)
c.8832A>G (p.Val2944=)
c.6429A>G (p.Val2143=)
2g.237336265T>GCA431701285COL6A3c.1480A>C
c.8217A>C (p.Val2739=)
c.962A>C
n.1102A>C
c.8835A>C (p.Val2945=)
c.7011A>C (p.Val2337=)
c.7014A>C (p.Val2338=)
n.5277A>C
c.8235A>C (p.Val2745=)
c.7614A>C (p.Val2538=)
c.8334A>C (p.Val2778=)
c.8832A>C (p.Val2944=)
c.6429A>C (p.Val2143=)
2g.237336266A>CCA351191309COL6A3c.1479T>G
c.8216T>G (p.Val2739Gly)
c.961T>G
n.1101T>G
c.8834T>G (p.Val2945Gly)
c.7010T>G (p.Val2337Gly)
c.7013T>G (p.Val2338Gly)
n.5276T>G
c.8234T>G (p.Val2745Gly)
c.7613T>G (p.Val2538Gly)
c.8333T>G (p.Val2778Gly)
c.8831T>G (p.Val2944Gly)
c.6428T>G (p.Val2143Gly)
2g.237336266A>GCA351191311COL6A3c.1479T>C
c.8216T>C (p.Val2739Ala)
c.961T>C
n.1101T>C
c.8834T>C (p.Val2945Ala)
c.7010T>C (p.Val2337Ala)
c.7013T>C (p.Val2338Ala)
n.5276T>C
c.8234T>C (p.Val2745Ala)
c.7613T>C (p.Val2538Ala)
c.8333T>C (p.Val2778Ala)
c.8831T>C (p.Val2944Ala)
c.6428T>C (p.Val2143Ala)
2g.237336266A>TCA351191313COL6A3c.1479T>A
c.8216T>A (p.Val2739Glu)
c.961T>A
n.1101T>A
c.8834T>A (p.Val2945Glu)
c.7010T>A (p.Val2337Glu)
c.7013T>A (p.Val2338Glu)
n.5276T>A
c.8234T>A (p.Val2745Glu)
c.7613T>A (p.Val2538Glu)
c.8333T>A (p.Val2778Glu)
c.8831T>A (p.Val2944Glu)
c.6428T>A (p.Val2143Glu)
 ClinVar dbSNP gnomAD v4
2g.237336267C>ACA351191316COL6A3c.1478G>T
c.8215G>T (p.Val2739Leu)
c.960G>T
n.1100G>T
c.8833G>T (p.Val2945Leu)
c.7009G>T (p.Val2337Leu)
c.7012G>T (p.Val2338Leu)
n.5275G>T
c.8233G>T (p.Val2745Leu)
c.7612G>T (p.Val2538Leu)
c.8332G>T (p.Val2778Leu)
c.8830G>T (p.Val2944Leu)
c.6427G>T (p.Val2143Leu)
2g.237336267C>GCA351191318COL6A3c.1478G>C
c.8215G>C (p.Val2739Leu)
c.960G>C
n.1100G>C
c.8833G>C (p.Val2945Leu)
c.7009G>C (p.Val2337Leu)
c.7012G>C (p.Val2338Leu)
n.5275G>C
c.8233G>C (p.Val2745Leu)
c.7612G>C (p.Val2538Leu)
c.8332G>C (p.Val2778Leu)
c.8830G>C (p.Val2944Leu)
c.6427G>C (p.Val2143Leu)
2g.237336267C>TCA351191321COL6A3c.1478G>A
c.8215G>A (p.Val2739Ile)
c.960G>A
n.1100G>A
c.8833G>A (p.Val2945Ile)
c.7009G>A (p.Val2337Ile)
c.7012G>A (p.Val2338Ile)
n.5275G>A
c.8233G>A (p.Val2745Ile)
c.7612G>A (p.Val2538Ile)
c.8332G>A (p.Val2778Ile)
c.8830G>A (p.Val2944Ile)
c.6427G>A (p.Val2143Ile)
 ClinVar
2g.237336268A>CCA431701305COL6A3c.1477T>G
c.8214T>G (p.Pro2738=)
c.959T>G
n.1099T>G
c.8832T>G (p.Pro2944=)
c.7008T>G (p.Pro2336=)
c.7011T>G (p.Pro2337=)
n.5274T>G
c.8232T>G (p.Pro2744=)
c.7611T>G (p.Pro2537=)
c.8331T>G (p.Pro2777=)
c.8829T>G (p.Pro2943=)
c.6426T>G (p.Pro2142=)
2g.237336268A>GCA431701311COL6A3c.1477T>C
c.8214T>C (p.Pro2738=)
c.959T>C
n.1099T>C
c.8832T>C (p.Pro2944=)
c.7008T>C (p.Pro2336=)
c.7011T>C (p.Pro2337=)
n.5274T>C
c.8232T>C (p.Pro2744=)
c.7611T>C (p.Pro2537=)
c.8331T>C (p.Pro2777=)
c.8829T>C (p.Pro2943=)
c.6426T>C (p.Pro2142=)
2g.237336268A>TCA431701307COL6A3c.1477T>A
c.8214T>A (p.Pro2738=)
c.959T>A
n.1099T>A
c.8832T>A (p.Pro2944=)
c.7008T>A (p.Pro2336=)
c.7011T>A (p.Pro2337=)
n.5274T>A
c.8232T>A (p.Pro2744=)
c.7611T>A (p.Pro2537=)
c.8331T>A (p.Pro2777=)
c.8829T>A (p.Pro2943=)
c.6426T>A (p.Pro2142=)
2g.237336269G>ACA351191324COL6A3c.1476C>T
c.8213C>T (p.Pro2738Leu)
c.958C>T
n.1098C>T
c.8831C>T (p.Pro2944Leu)
c.7007C>T (p.Pro2336Leu)
c.7010C>T (p.Pro2337Leu)
n.5273C>T
c.8231C>T (p.Pro2744Leu)
c.7610C>T (p.Pro2537Leu)
c.8330C>T (p.Pro2777Leu)
c.8828C>T (p.Pro2943Leu)
c.6425C>T (p.Pro2142Leu)
2g.237336269G>CCA351191326COL6A3c.1476C>G
c.8213C>G (p.Pro2738Arg)
c.958C>G
n.1098C>G
c.8831C>G (p.Pro2944Arg)
c.7007C>G (p.Pro2336Arg)
c.7010C>G (p.Pro2337Arg)
n.5273C>G
c.8231C>G (p.Pro2744Arg)
c.7610C>G (p.Pro2537Arg)
c.8330C>G (p.Pro2777Arg)
c.8828C>G (p.Pro2943Arg)
c.6425C>G (p.Pro2142Arg)
2g.237336269G>TCA351191328COL6A3c.1476C>A
c.8213C>A (p.Pro2738His)
c.958C>A
n.1098C>A
c.8831C>A (p.Pro2944His)
c.7007C>A (p.Pro2336His)
c.7010C>A (p.Pro2337His)
n.5273C>A
c.8231C>A (p.Pro2744His)
c.7610C>A (p.Pro2537His)
c.8330C>A (p.Pro2777His)
c.8828C>A (p.Pro2943His)
c.6425C>A (p.Pro2142His)
2g.237336270G>ACA351191335COL6A3c.1475C>T
c.8212C>T (p.Pro2738Ser)
c.957C>T
n.1097C>T
c.8830C>T (p.Pro2944Ser)
c.7006C>T (p.Pro2336Ser)
c.7009C>T (p.Pro2337Ser)
n.5272C>T
c.8230C>T (p.Pro2744Ser)
c.7609C>T (p.Pro2537Ser)
c.8329C>T (p.Pro2777Ser)
c.8827C>T (p.Pro2943Ser)
c.6424C>T (p.Pro2142Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.237336270G>CCA351191331COL6A3c.1475C>G
c.8212C>G (p.Pro2738Ala)
c.957C>G
n.1097C>G
c.8830C>G (p.Pro2944Ala)
c.7006C>G (p.Pro2336Ala)
c.7009C>G (p.Pro2337Ala)
n.5272C>G
c.8230C>G (p.Pro2744Ala)
c.7609C>G (p.Pro2537Ala)
c.8329C>G (p.Pro2777Ala)
c.8827C>G (p.Pro2943Ala)
c.6424C>G (p.Pro2142Ala)
2g.237336270G=CA1337607109COL6A3c.1475C=
c.8212C= (p.Pro2738=)
c.957C=
n.1097C=
c.8830C= (p.Pro2944=)
c.7006C= (p.Pro2336=)
c.7009C= (p.Pro2337=)
n.5272C=
c.8230C= (p.Pro2744=)
c.7609C= (p.Pro2537=)
c.8329C= (p.Pro2777=)
c.8827C= (p.Pro2943=)
c.6424C= (p.Pro2142=)
2g.237336270G>TCA351191333COL6A3c.1475C>A
c.8212C>A (p.Pro2738Thr)
c.957C>A
n.1097C>A
c.8830C>A (p.Pro2944Thr)
c.7006C>A (p.Pro2336Thr)
c.7009C>A (p.Pro2337Thr)
n.5272C>A
c.8230C>A (p.Pro2744Thr)
c.7609C>A (p.Pro2537Thr)
c.8329C>A (p.Pro2777Thr)
c.8827C>A (p.Pro2943Thr)
c.6424C>A (p.Pro2142Thr)
2g.237336271C>ACA351191338COL6A3c.1474G>T
c.8211G>T (p.Lys2737Asn)
c.956G>T
n.1096G>T
c.8829G>T (p.Lys2943Asn)
c.7005G>T (p.Lys2335Asn)
c.7008G>T (p.Lys2336Asn)
n.5271G>T
c.8229G>T (p.Lys2743Asn)
c.7608G>T (p.Lys2536Asn)
c.8328G>T (p.Lys2776Asn)
c.8826G>T (p.Lys2942Asn)
c.6423G>T (p.Lys2141Asn)
2g.237336271C>GCA351191340COL6A3c.1474G>C
c.8211G>C (p.Lys2737Asn)
c.956G>C
n.1096G>C
c.8829G>C (p.Lys2943Asn)
c.7005G>C (p.Lys2335Asn)
c.7008G>C (p.Lys2336Asn)
n.5271G>C
c.8229G>C (p.Lys2743Asn)
c.7608G>C (p.Lys2536Asn)
c.8328G>C (p.Lys2776Asn)
c.8826G>C (p.Lys2942Asn)
c.6423G>C (p.Lys2141Asn)
2g.237336271C>TCA431701338COL6A3c.1474G>A
c.8211G>A (p.Lys2737=)
c.956G>A
n.1096G>A
c.8829G>A (p.Lys2943=)
c.7005G>A (p.Lys2335=)
c.7008G>A (p.Lys2336=)
n.5271G>A
c.8229G>A (p.Lys2743=)
c.7608G>A (p.Lys2536=)
c.8328G>A (p.Lys2776=)
c.8826G>A (p.Lys2942=)
c.6423G>A (p.Lys2141=)
 gnomAD v4
2g.237336272T>ACA351191343COL6A3c.1473A>T
c.8210A>T (p.Lys2737Met)
c.955A>T
n.1095A>T
c.8828A>T (p.Lys2943Met)
c.7004A>T (p.Lys2335Met)
c.7007A>T (p.Lys2336Met)
n.5270A>T
c.8228A>T (p.Lys2743Met)
c.7607A>T (p.Lys2536Met)
c.8327A>T (p.Lys2776Met)
c.8825A>T (p.Lys2942Met)
c.6422A>T (p.Lys2141Met)
2g.237336272T>CCA351191346COL6A3c.1473A>G
c.8210A>G (p.Lys2737Arg)
c.955A>G
n.1095A>G
c.8828A>G (p.Lys2943Arg)
c.7004A>G (p.Lys2335Arg)
c.7007A>G (p.Lys2336Arg)
n.5270A>G
c.8228A>G (p.Lys2743Arg)
c.7607A>G (p.Lys2536Arg)
c.8327A>G (p.Lys2776Arg)
c.8825A>G (p.Lys2942Arg)
c.6422A>G (p.Lys2141Arg)
 ClinVar dbSNP
2g.237336272T>GCA351191348COL6A3c.1473A>C
c.8210A>C (p.Lys2737Thr)
c.955A>C
n.1095A>C
c.8828A>C (p.Lys2943Thr)
c.7004A>C (p.Lys2335Thr)
c.7007A>C (p.Lys2336Thr)
n.5270A>C
c.8228A>C (p.Lys2743Thr)
c.7607A>C (p.Lys2536Thr)
c.8327A>C (p.Lys2776Thr)
c.8825A>C (p.Lys2942Thr)
c.6422A>C (p.Lys2141Thr)
2g.237336272T=CA1337607110COL6A3c.1473A=
c.8210A= (p.Lys2737=)
c.955A=
n.1095A=
c.8828A= (p.Lys2943=)
c.7004A= (p.Lys2335=)
c.7007A= (p.Lys2336=)
n.5270A=
c.8228A= (p.Lys2743=)
c.7607A= (p.Lys2536=)
c.8327A= (p.Lys2776=)
c.8825A= (p.Lys2942=)
c.6422A= (p.Lys2141=)
2g.237336273T>ACA351191350COL6A3c.1472A>T
c.8209A>T (p.Lys2737Ter)
c.954A>T
n.1094A>T
c.8827A>T (p.Lys2943Ter)
c.7003A>T (p.Lys2335Ter)
c.7006A>T (p.Lys2336Ter)
n.5269A>T
c.8227A>T (p.Lys2743Ter)
c.7606A>T (p.Lys2536Ter)
c.8326A>T (p.Lys2776Ter)
c.8824A>T (p.Lys2942Ter)
c.6421A>T (p.Lys2141Ter)
2g.237336273T>CCA351191352COL6A3c.1472A>G
c.8209A>G (p.Lys2737Glu)
c.954A>G
n.1094A>G
c.8827A>G (p.Lys2943Glu)
c.7003A>G (p.Lys2335Glu)
c.7006A>G (p.Lys2336Glu)
n.5269A>G
c.8227A>G (p.Lys2743Glu)
c.7606A>G (p.Lys2536Glu)
c.8326A>G (p.Lys2776Glu)
c.8824A>G (p.Lys2942Glu)
c.6421A>G (p.Lys2141Glu)
2g.237336273T>GCA351191354COL6A3c.1472A>C
c.8209A>C (p.Lys2737Gln)
c.954A>C
n.1094A>C
c.8827A>C (p.Lys2943Gln)
c.7003A>C (p.Lys2335Gln)
c.7006A>C (p.Lys2336Gln)
n.5269A>C
c.8227A>C (p.Lys2743Gln)
c.7606A>C (p.Lys2536Gln)
c.8326A>C (p.Lys2776Gln)
c.8824A>C (p.Lys2942Gln)
c.6421A>C (p.Lys2141Gln)
2g.237336274C>ACA431701362COL6A3c.1471G>T
c.8208G>T (p.Ala2736=)
c.953G>T
n.1093G>T
c.8826G>T (p.Ala2942=)
c.7002G>T (p.Ala2334=)
c.7005G>T (p.Ala2335=)
n.5268G>T
c.8226G>T (p.Ala2742=)
c.7605G>T (p.Ala2535=)
c.8325G>T (p.Ala2775=)
c.8823G>T (p.Ala2941=)
c.6420G>T (p.Ala2140=)
 gnomAD v4
2g.237336274C=CA1337607111COL6A3c.1471G=
c.8208G= (p.Ala2736=)
c.953G=
n.1093G=
c.8826G= (p.Ala2942=)
c.7002G= (p.Ala2334=)
c.7005G= (p.Ala2335=)
n.5268G=
c.8226G= (p.Ala2742=)
c.7605G= (p.Ala2535=)
c.8325G= (p.Ala2775=)
c.8823G= (p.Ala2941=)
c.6420G= (p.Ala2140=)
2g.237336274C>GCA431701367COL6A3c.1471G>C
c.8208G>C (p.Ala2736=)
c.953G>C
n.1093G>C
c.8826G>C (p.Ala2942=)
c.7002G>C (p.Ala2334=)
c.7005G>C (p.Ala2335=)
n.5268G>C
c.8226G>C (p.Ala2742=)
c.7605G>C (p.Ala2535=)
c.8325G>C (p.Ala2775=)
c.8823G>C (p.Ala2941=)
c.6420G>C (p.Ala2140=)
2g.237336274C>TCA2187436COL6A3c.1471G>A
c.8208G>A (p.Ala2736=)
c.953G>A
n.1093G>A
c.8826G>A (p.Ala2942=)
c.7002G>A (p.Ala2334=)
c.7005G>A (p.Ala2335=)
n.5268G>A
c.8226G>A (p.Ala2742=)
c.7605G>A (p.Ala2535=)
c.8325G>A (p.Ala2775=)
c.8823G>A (p.Ala2941=)
c.6420G>A (p.Ala2140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336275G>ACA2187437COL6A3c.1470C>T
c.8207C>T (p.Ala2736Val)
c.952C>T
n.1092C>T
c.8825C>T (p.Ala2942Val)
c.7001C>T (p.Ala2334Val)
c.7004C>T (p.Ala2335Val)
n.5267C>T
c.8225C>T (p.Ala2742Val)
c.7604C>T (p.Ala2535Val)
c.8324C>T (p.Ala2775Val)
c.8822C>T (p.Ala2941Val)
c.6419C>T (p.Ala2140Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237336275G>CCA351191358COL6A3c.1470C>G
c.8207C>G (p.Ala2736Gly)
c.952C>G
n.1092C>G
c.8825C>G (p.Ala2942Gly)
c.7001C>G (p.Ala2334Gly)
c.7004C>G (p.Ala2335Gly)
n.5267C>G
c.8225C>G (p.Ala2742Gly)
c.7604C>G (p.Ala2535Gly)
c.8324C>G (p.Ala2775Gly)
c.8822C>G (p.Ala2941Gly)
c.6419C>G (p.Ala2140Gly)
2g.237336275G=CA1337607112COL6A3c.1470C=
c.8207C= (p.Ala2736=)
c.952C=
n.1092C=
c.8825C= (p.Ala2942=)
c.7001C= (p.Ala2334=)
c.7004C= (p.Ala2335=)
n.5267C=
c.8225C= (p.Ala2742=)
c.7604C= (p.Ala2535=)
c.8324C= (p.Ala2775=)
c.8822C= (p.Ala2941=)
c.6419C= (p.Ala2140=)
2g.237336275G>TCA351191360COL6A3c.1470C>A
c.8207C>A (p.Ala2736Glu)
c.952C>A
n.1092C>A
c.8825C>A (p.Ala2942Glu)
c.7001C>A (p.Ala2334Glu)
c.7004C>A (p.Ala2335Glu)
n.5267C>A
c.8225C>A (p.Ala2742Glu)
c.7604C>A (p.Ala2535Glu)
c.8324C>A (p.Ala2775Glu)
c.8822C>A (p.Ala2941Glu)
c.6419C>A (p.Ala2140Glu)
 gnomAD v4
2g.237336276C>ACA351191366COL6A3c.1469G>T
c.8206G>T (p.Ala2736Ser)
c.951G>T
n.1091G>T
c.8824G>T (p.Ala2942Ser)
c.7000G>T (p.Ala2334Ser)
c.7003G>T (p.Ala2335Ser)
n.5266G>T
c.8224G>T (p.Ala2742Ser)
c.7603G>T (p.Ala2535Ser)
c.8323G>T (p.Ala2775Ser)
c.8821G>T (p.Ala2941Ser)
c.6418G>T (p.Ala2140Ser)
2g.237336276C=CA1337607113COL6A3c.1469G=
c.8206G= (p.Ala2736=)
c.951G=
n.1091G=
c.8824G= (p.Ala2942=)
c.7000G= (p.Ala2334=)
c.7003G= (p.Ala2335=)
n.5266G=
c.8224G= (p.Ala2742=)
c.7603G= (p.Ala2535=)
c.8323G= (p.Ala2775=)
c.8821G= (p.Ala2941=)
c.6418G= (p.Ala2140=)
2g.237336276C>GCA351191368COL6A3c.1469G>C
c.8206G>C (p.Ala2736Pro)
c.951G>C
n.1091G>C
c.8824G>C (p.Ala2942Pro)
c.7000G>C (p.Ala2334Pro)
c.7003G>C (p.Ala2335Pro)
n.5266G>C
c.8224G>C (p.Ala2742Pro)
c.7603G>C (p.Ala2535Pro)
c.8323G>C (p.Ala2775Pro)
c.8821G>C (p.Ala2941Pro)
c.6418G>C (p.Ala2140Pro)
2g.237336276C>TCA351191363COL6A3c.1469G>A
c.8206G>A (p.Ala2736Thr)
c.951G>A
n.1091G>A
c.8824G>A (p.Ala2942Thr)
c.7000G>A (p.Ala2334Thr)
c.7003G>A (p.Ala2335Thr)
n.5266G>A
c.8224G>A (p.Ala2742Thr)
c.7603G>A (p.Ala2535Thr)
c.8323G>A (p.Ala2775Thr)
c.8821G>A (p.Ala2941Thr)
c.6418G>A (p.Ala2140Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.237336277T>ACA431701405COL6A3c.1468A>T
c.8205A>T (p.Ala2735=)
c.950A>T
n.1090A>T
c.8823A>T (p.Ala2941=)
c.6999A>T (p.Ala2333=)
c.7002A>T (p.Ala2334=)
n.5265A>T
c.8223A>T (p.Ala2741=)
c.7602A>T (p.Ala2534=)
c.8322A>T (p.Ala2774=)
c.8820A>T (p.Ala2940=)
c.6417A>T (p.Ala2139=)
2g.237336277T>CCA431701408COL6A3c.1468A>G
c.8205A>G (p.Ala2735=)
c.950A>G
n.1090A>G
c.8823A>G (p.Ala2941=)
c.6999A>G (p.Ala2333=)
c.7002A>G (p.Ala2334=)
n.5265A>G
c.8223A>G (p.Ala2741=)
c.7602A>G (p.Ala2534=)
c.8322A>G (p.Ala2774=)
c.8820A>G (p.Ala2940=)
c.6417A>G (p.Ala2139=)
2g.237336277T>GCA431701414COL6A3c.1468A>C
c.8205A>C (p.Ala2735=)
c.950A>C
n.1090A>C
c.8823A>C (p.Ala2941=)
c.6999A>C (p.Ala2333=)
c.7002A>C (p.Ala2334=)
n.5265A>C
c.8223A>C (p.Ala2741=)
c.7602A>C (p.Ala2534=)
c.8322A>C (p.Ala2774=)
c.8820A>C (p.Ala2940=)
c.6417A>C (p.Ala2139=)
2g.237336278G>ACA148075COL6A3c.1467C>T
c.8204C>T (p.Ala2735Val)
c.949C>T
n.1089C>T
c.8822C>T (p.Ala2941Val)
c.6998C>T (p.Ala2333Val)
c.7001C>T (p.Ala2334Val)
n.5264C>T
c.8222C>T (p.Ala2741Val)
c.7601C>T (p.Ala2534Val)
c.8321C>T (p.Ala2774Val)
c.8819C>T (p.Ala2940Val)
c.6416C>T (p.Ala2139Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336278G>CCA351191371COL6A3c.1467C>G
c.8204C>G (p.Ala2735Gly)
c.949C>G
n.1089C>G
c.8822C>G (p.Ala2941Gly)
c.6998C>G (p.Ala2333Gly)
c.7001C>G (p.Ala2334Gly)
n.5264C>G
c.8222C>G (p.Ala2741Gly)
c.7601C>G (p.Ala2534Gly)
c.8321C>G (p.Ala2774Gly)
c.8819C>G (p.Ala2940Gly)
c.6416C>G (p.Ala2139Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.237336278G=CA1337607114COL6A3c.1467C=
c.8204C= (p.Ala2735=)
c.949C=
n.1089C=
c.8822C= (p.Ala2941=)
c.6998C= (p.Ala2333=)
c.7001C= (p.Ala2334=)
n.5264C=
c.8222C= (p.Ala2741=)
c.7601C= (p.Ala2534=)
c.8321C= (p.Ala2774=)
c.8819C= (p.Ala2940=)
c.6416C= (p.Ala2139=)
2g.237336278G>TCA351191375COL6A3c.1467C>A
c.8204C>A (p.Ala2735Glu)
c.949C>A
n.1089C>A
c.8822C>A (p.Ala2941Glu)
c.6998C>A (p.Ala2333Glu)
c.7001C>A (p.Ala2334Glu)
n.5264C>A
c.8222C>A (p.Ala2741Glu)
c.7601C>A (p.Ala2534Glu)
c.8321C>A (p.Ala2774Glu)
c.8819C>A (p.Ala2940Glu)
c.6416C>A (p.Ala2139Glu)
2g.237336279C>ACA351191378COL6A3c.1466G>T
c.8203G>T (p.Ala2735Ser)
c.948G>T
n.1088G>T
c.8821G>T (p.Ala2941Ser)
c.6997G>T (p.Ala2333Ser)
c.7000G>T (p.Ala2334Ser)
n.5263G>T
c.8221G>T (p.Ala2741Ser)
c.7600G>T (p.Ala2534Ser)
c.8320G>T (p.Ala2774Ser)
c.8818G>T (p.Ala2940Ser)
c.6415G>T (p.Ala2139Ser)
2g.237336279C>GCA351191380COL6A3c.1466G>C
c.8203G>C (p.Ala2735Pro)
c.948G>C
n.1088G>C
c.8821G>C (p.Ala2941Pro)
c.6997G>C (p.Ala2333Pro)
c.7000G>C (p.Ala2334Pro)
n.5263G>C
c.8221G>C (p.Ala2741Pro)
c.7600G>C (p.Ala2534Pro)
c.8320G>C (p.Ala2774Pro)
c.8818G>C (p.Ala2940Pro)
c.6415G>C (p.Ala2139Pro)
2g.237336279C>TCA351191382COL6A3c.1466G>A
c.8203G>A (p.Ala2735Thr)
c.948G>A
n.1088G>A
c.8821G>A (p.Ala2941Thr)
c.6997G>A (p.Ala2333Thr)
c.7000G>A (p.Ala2334Thr)
n.5263G>A
c.8221G>A (p.Ala2741Thr)
c.7600G>A (p.Ala2534Thr)
c.8320G>A (p.Ala2774Thr)
c.8818G>A (p.Ala2940Thr)
c.6415G>A (p.Ala2139Thr)
2g.237336280C>ACA431701427COL6A3c.1465G>T
c.8202G>T (p.Thr2734=)
c.947G>T
n.1087G>T
c.8820G>T (p.Thr2940=)
c.6996G>T (p.Thr2332=)
c.6999G>T (p.Thr2333=)
n.5262G>T
c.8220G>T (p.Thr2740=)
c.7599G>T (p.Thr2533=)
c.8319G>T (p.Thr2773=)
c.8817G>T (p.Thr2939=)
c.6414G>T (p.Thr2138=)
2g.237336280C=CA1337607115COL6A3c.1465G=
c.8202G= (p.Thr2734=)
c.947G=
n.1087G=
c.8820G= (p.Thr2940=)
c.6996G= (p.Thr2332=)
c.6999G= (p.Thr2333=)
n.5262G=
c.8220G= (p.Thr2740=)
c.7599G= (p.Thr2533=)
c.8319G= (p.Thr2773=)
c.8817G= (p.Thr2939=)
c.6414G= (p.Thr2138=)
2g.237336280C>GCA67830523COL6A3c.1465G>C
c.8202G>C (p.Thr2734=)
c.947G>C
n.1087G>C
c.8820G>C (p.Thr2940=)
c.6996G>C (p.Thr2332=)
c.6999G>C (p.Thr2333=)
n.5262G>C
c.8220G>C (p.Thr2740=)
c.7599G>C (p.Thr2533=)
c.8319G>C (p.Thr2773=)
c.8817G>C (p.Thr2939=)
c.6414G>C (p.Thr2138=)
 dbSNP
2g.237336280C>TCA148072COL6A3c.1465G>A
c.8202G>A (p.Thr2734=)
c.947G>A
n.1087G>A
c.8820G>A (p.Thr2940=)
c.6996G>A (p.Thr2332=)
c.6999G>A (p.Thr2333=)
n.5262G>A
c.8220G>A (p.Thr2740=)
c.7599G>A (p.Thr2533=)
c.8319G>A (p.Thr2773=)
c.8817G>A (p.Thr2939=)
c.6414G>A (p.Thr2138=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336281G>ACA245531COL6A3c.1464C>T
c.8201C>T (p.Thr2734Met)
c.946C>T
n.1086C>T
c.8819C>T (p.Thr2940Met)
c.6995C>T (p.Thr2332Met)
c.6998C>T (p.Thr2333Met)
n.5261C>T
c.8219C>T (p.Thr2740Met)
c.7598C>T (p.Thr2533Met)
c.8318C>T (p.Thr2773Met)
c.8816C>T (p.Thr2939Met)
c.6413C>T (p.Thr2138Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336281G>CCA351191388COL6A3c.1464C>G
c.8201C>G (p.Thr2734Arg)
c.946C>G
n.1086C>G
c.8819C>G (p.Thr2940Arg)
c.6995C>G (p.Thr2332Arg)
c.6998C>G (p.Thr2333Arg)
n.5261C>G
c.8219C>G (p.Thr2740Arg)
c.7598C>G (p.Thr2533Arg)
c.8318C>G (p.Thr2773Arg)
c.8816C>G (p.Thr2939Arg)
c.6413C>G (p.Thr2138Arg)
2g.237336281G=CA1337607116COL6A3c.1464C=
c.8201C= (p.Thr2734=)
c.946C=
n.1086C=
c.8819C= (p.Thr2940=)
c.6995C= (p.Thr2332=)
c.6998C= (p.Thr2333=)
n.5261C=
c.8219C= (p.Thr2740=)
c.7598C= (p.Thr2533=)
c.8318C= (p.Thr2773=)
c.8816C= (p.Thr2939=)
c.6413C= (p.Thr2138=)
2g.237336281G>TCA351191389COL6A3c.1464C>A
c.8201C>A (p.Thr2734Lys)
c.946C>A
n.1086C>A
c.8819C>A (p.Thr2940Lys)
c.6995C>A (p.Thr2332Lys)
c.6998C>A (p.Thr2333Lys)
n.5261C>A
c.8219C>A (p.Thr2740Lys)
c.7598C>A (p.Thr2533Lys)
c.8318C>A (p.Thr2773Lys)
c.8816C>A (p.Thr2939Lys)
c.6413C>A (p.Thr2138Lys)
 dbSNP
2g.237336282T>ACA351191393COL6A3c.1463A>T
c.8200A>T (p.Thr2734Ser)
c.945A>T
n.1085A>T
c.8818A>T (p.Thr2940Ser)
c.6994A>T (p.Thr2332Ser)
c.6997A>T (p.Thr2333Ser)
n.5260A>T
c.8218A>T (p.Thr2740Ser)
c.7597A>T (p.Thr2533Ser)
c.8317A>T (p.Thr2773Ser)
c.8815A>T (p.Thr2939Ser)
c.6412A>T (p.Thr2138Ser)
2g.237336282T>CCA351191395COL6A3c.1463A>G
c.8200A>G (p.Thr2734Ala)
c.945A>G
n.1085A>G
c.8818A>G (p.Thr2940Ala)
c.6994A>G (p.Thr2332Ala)
c.6997A>G (p.Thr2333Ala)
n.5260A>G
c.8218A>G (p.Thr2740Ala)
c.7597A>G (p.Thr2533Ala)
c.8317A>G (p.Thr2773Ala)
c.8815A>G (p.Thr2939Ala)
c.6412A>G (p.Thr2138Ala)
2g.237336282T>GCA351191397COL6A3c.1463A>C
c.8200A>C (p.Thr2734Pro)
c.945A>C
n.1085A>C
c.8818A>C (p.Thr2940Pro)
c.6994A>C (p.Thr2332Pro)
c.6997A>C (p.Thr2333Pro)
n.5260A>C
c.8218A>C (p.Thr2740Pro)
c.7597A>C (p.Thr2533Pro)
c.8317A>C (p.Thr2773Pro)
c.8815A>C (p.Thr2939Pro)
c.6412A>C (p.Thr2138Pro)
2g.237336283delCA2663792158COL6A3c.1463del
c.8200del (p.Thr2734ArgfsTer6)
c.945del
n.1085del
c.8818del (p.Thr2940ArgfsTer6)
c.6994del (p.Thr2332ArgfsTer6)
c.6997del (p.Thr2333ArgfsTer6)
n.5260del
c.8218del (p.Thr2740ArgfsTer6)
c.7597del (p.Thr2533ArgfsTer6)
c.8317del (p.Thr2773ArgfsTer6)
c.8815del (p.Thr2939ArgfsTer6)
c.6412del (p.Thr2138ArgfsTer6)
 gnomAD v4
2g.237336283T>ACA431701450COL6A3c.1462A>T
c.8199A>T (p.Ala2733=)
c.944A>T
n.1084A>T
c.8817A>T (p.Ala2939=)
c.6993A>T (p.Ala2331=)
c.6996A>T (p.Ala2332=)
n.5259A>T
c.8217A>T (p.Ala2739=)
c.7596A>T (p.Ala2532=)
c.8316A>T (p.Ala2772=)
c.8814A>T (p.Ala2938=)
c.6411A>T (p.Ala2137=)
2g.237336283T>CCA431701448COL6A3c.1462A>G
c.8199A>G (p.Ala2733=)
c.944A>G
n.1084A>G
c.8817A>G (p.Ala2939=)
c.6993A>G (p.Ala2331=)
c.6996A>G (p.Ala2332=)
n.5259A>G
c.8217A>G (p.Ala2739=)
c.7596A>G (p.Ala2532=)
c.8316A>G (p.Ala2772=)
c.8814A>G (p.Ala2938=)
c.6411A>G (p.Ala2137=)
2g.237336283T>GCA431701449COL6A3c.1462A>C
c.8199A>C (p.Ala2733=)
c.944A>C
n.1084A>C
c.8817A>C (p.Ala2939=)
c.6993A>C (p.Ala2331=)
c.6996A>C (p.Ala2332=)
n.5259A>C
c.8217A>C (p.Ala2739=)
c.7596A>C (p.Ala2532=)
c.8316A>C (p.Ala2772=)
c.8814A>C (p.Ala2938=)
c.6411A>C (p.Ala2137=)
2g.237336284G>ACA351191400COL6A3c.1461C>T
c.8198C>T (p.Ala2733Val)
c.943C>T
n.1083C>T
c.8816C>T (p.Ala2939Val)
c.6992C>T (p.Ala2331Val)
c.6995C>T (p.Ala2332Val)
n.5258C>T
c.8216C>T (p.Ala2739Val)
c.7595C>T (p.Ala2532Val)
c.8315C>T (p.Ala2772Val)
c.8813C>T (p.Ala2938Val)
c.6410C>T (p.Ala2137Val)
2g.237336284G>CCA351191402COL6A3c.1461C>G
c.8198C>G (p.Ala2733Gly)
c.943C>G
n.1083C>G
c.8816C>G (p.Ala2939Gly)
c.6992C>G (p.Ala2331Gly)
c.6995C>G (p.Ala2332Gly)
n.5258C>G
c.8216C>G (p.Ala2739Gly)
c.7595C>G (p.Ala2532Gly)
c.8315C>G (p.Ala2772Gly)
c.8813C>G (p.Ala2938Gly)
c.6410C>G (p.Ala2137Gly)
2g.237336284G>TCA351191404COL6A3c.1461C>A
c.8198C>A (p.Ala2733Glu)
c.943C>A
n.1083C>A
c.8816C>A (p.Ala2939Glu)
c.6992C>A (p.Ala2331Glu)
c.6995C>A (p.Ala2332Glu)
n.5258C>A
c.8216C>A (p.Ala2739Glu)
c.7595C>A (p.Ala2532Glu)
c.8315C>A (p.Ala2772Glu)
c.8813C>A (p.Ala2938Glu)
c.6410C>A (p.Ala2137Glu)
2g.237336285C>ACA351191411COL6A3c.1460G>T
c.8197G>T (p.Ala2733Ser)
c.942G>T
n.1082G>T
c.8815G>T (p.Ala2939Ser)
c.6991G>T (p.Ala2331Ser)
c.6994G>T (p.Ala2332Ser)
n.5257G>T
c.8215G>T (p.Ala2739Ser)
c.7594G>T (p.Ala2532Ser)
c.8314G>T (p.Ala2772Ser)
c.8812G>T (p.Ala2938Ser)
c.6409G>T (p.Ala2137Ser)
2g.237336285C>GCA351191407COL6A3c.1460G>C
c.8197G>C (p.Ala2733Pro)
c.942G>C
n.1082G>C
c.8815G>C (p.Ala2939Pro)
c.6991G>C (p.Ala2331Pro)
c.6994G>C (p.Ala2332Pro)
n.5257G>C
c.8215G>C (p.Ala2739Pro)
c.7594G>C (p.Ala2532Pro)
c.8314G>C (p.Ala2772Pro)
c.8812G>C (p.Ala2938Pro)
c.6409G>C (p.Ala2137Pro)
2g.237336285C>TCA351191409COL6A3c.1460G>A
c.8197G>A (p.Ala2733Thr)
c.942G>A
n.1082G>A
c.8815G>A (p.Ala2939Thr)
c.6991G>A (p.Ala2331Thr)
c.6994G>A (p.Ala2332Thr)
n.5257G>A
c.8215G>A (p.Ala2739Thr)
c.7594G>A (p.Ala2532Thr)
c.8314G>A (p.Ala2772Thr)
c.8812G>A (p.Ala2938Thr)
c.6409G>A (p.Ala2137Thr)
2g.237336286T>ACA431701469COL6A3c.1459A>T
c.8196A>T (p.Pro2732=)
c.941A>T
n.1081A>T
c.8814A>T (p.Pro2938=)
c.6990A>T (p.Pro2330=)
c.6993A>T (p.Pro2331=)
n.5256A>T
c.8214A>T (p.Pro2738=)
c.7593A>T (p.Pro2531=)
c.8313A>T (p.Pro2771=)
c.8811A>T (p.Pro2937=)
c.6408A>T (p.Pro2136=)
2g.237336286T>CCA431701473COL6A3c.1459A>G
c.8196A>G (p.Pro2732=)
c.941A>G
n.1081A>G
c.8814A>G (p.Pro2938=)
c.6990A>G (p.Pro2330=)
c.6993A>G (p.Pro2331=)
n.5256A>G
c.8214A>G (p.Pro2738=)
c.7593A>G (p.Pro2531=)
c.8313A>G (p.Pro2771=)
c.8811A>G (p.Pro2937=)
c.6408A>G (p.Pro2136=)
 dbSNP
2g.237336286T>GCA431701478COL6A3c.1459A>C
c.8196A>C (p.Pro2732=)
c.941A>C
n.1081A>C
c.8814A>C (p.Pro2938=)
c.6990A>C (p.Pro2330=)
c.6993A>C (p.Pro2331=)
n.5256A>C
c.8214A>C (p.Pro2738=)
c.7593A>C (p.Pro2531=)
c.8313A>C (p.Pro2771=)
c.8811A>C (p.Pro2937=)
c.6408A>C (p.Pro2136=)
2g.237336286T=CA1337607117COL6A3c.1459A=
c.8196A= (p.Pro2732=)
c.941A=
n.1081A=
c.8814A= (p.Pro2938=)
c.6990A= (p.Pro2330=)
c.6993A= (p.Pro2331=)
n.5256A=
c.8214A= (p.Pro2738=)
c.7593A= (p.Pro2531=)
c.8313A= (p.Pro2771=)
c.8811A= (p.Pro2937=)
c.6408A= (p.Pro2136=)
2g.237336287G>ACA351191414COL6A3c.1458C>T
c.8195C>T (p.Pro2732Leu)
c.940C>T
n.1080C>T
c.8813C>T (p.Pro2938Leu)
c.6989C>T (p.Pro2330Leu)
c.6992C>T (p.Pro2331Leu)
n.5255C>T
c.8213C>T (p.Pro2738Leu)
c.7592C>T (p.Pro2531Leu)
c.8312C>T (p.Pro2771Leu)
c.8810C>T (p.Pro2937Leu)
c.6407C>T (p.Pro2136Leu)
2g.237336287G>CCA351191416COL6A3c.1458C>G
c.8195C>G (p.Pro2732Arg)
c.940C>G
n.1080C>G
c.8813C>G (p.Pro2938Arg)
c.6989C>G (p.Pro2330Arg)
c.6992C>G (p.Pro2331Arg)
n.5255C>G
c.8213C>G (p.Pro2738Arg)
c.7592C>G (p.Pro2531Arg)
c.8312C>G (p.Pro2771Arg)
c.8810C>G (p.Pro2937Arg)
c.6407C>G (p.Pro2136Arg)
2g.237336287G>TCA351191418COL6A3c.1458C>A
c.8195C>A (p.Pro2732Gln)
c.940C>A
n.1080C>A
c.8813C>A (p.Pro2938Gln)
c.6989C>A (p.Pro2330Gln)
c.6992C>A (p.Pro2331Gln)
n.5255C>A
c.8213C>A (p.Pro2738Gln)
c.7592C>A (p.Pro2531Gln)
c.8312C>A (p.Pro2771Gln)
c.8810C>A (p.Pro2937Gln)
c.6407C>A (p.Pro2136Gln)
2g.237336288G>ACA351191421COL6A3c.1457C>T
c.8194C>T (p.Pro2732Ser)
c.939C>T
n.1079C>T
c.8812C>T (p.Pro2938Ser)
c.6988C>T (p.Pro2330Ser)
c.6991C>T (p.Pro2331Ser)
n.5254C>T
c.8212C>T (p.Pro2738Ser)
c.7591C>T (p.Pro2531Ser)
c.8311C>T (p.Pro2771Ser)
c.8809C>T (p.Pro2937Ser)
c.6406C>T (p.Pro2136Ser)
2g.237336288G>CCA351191423COL6A3c.1457C>G
c.8194C>G (p.Pro2732Ala)
c.939C>G
n.1079C>G
c.8812C>G (p.Pro2938Ala)
c.6988C>G (p.Pro2330Ala)
c.6991C>G (p.Pro2331Ala)
n.5254C>G
c.8212C>G (p.Pro2738Ala)
c.7591C>G (p.Pro2531Ala)
c.8311C>G (p.Pro2771Ala)
c.8809C>G (p.Pro2937Ala)
c.6406C>G (p.Pro2136Ala)
2g.237336288G>TCA351191425COL6A3c.1457C>A
c.8194C>A (p.Pro2732Thr)
c.939C>A
n.1079C>A
c.8812C>A (p.Pro2938Thr)
c.6988C>A (p.Pro2330Thr)
c.6991C>A (p.Pro2331Thr)
n.5254C>A
c.8212C>A (p.Pro2738Thr)
c.7591C>A (p.Pro2531Thr)
c.8311C>A (p.Pro2771Thr)
c.8809C>A (p.Pro2937Thr)
c.6406C>A (p.Pro2136Thr)
2g.237336289C>ACA351191428COL6A3c.1456G>T
c.8193G>T (p.Lys2731Asn)
c.938G>T
n.1078G>T
c.8811G>T (p.Lys2937Asn)
c.6987G>T (p.Lys2329Asn)
c.6990G>T (p.Lys2330Asn)
n.5253G>T
c.8211G>T (p.Lys2737Asn)
c.7590G>T (p.Lys2530Asn)
c.8310G>T (p.Lys2770Asn)
c.8808G>T (p.Lys2936Asn)
c.6405G>T (p.Lys2135Asn)
2g.237336289C>GCA351191429COL6A3c.1456G>C
c.8193G>C (p.Lys2731Asn)
c.938G>C
n.1078G>C
c.8811G>C (p.Lys2937Asn)
c.6987G>C (p.Lys2329Asn)
c.6990G>C (p.Lys2330Asn)
n.5253G>C
c.8211G>C (p.Lys2737Asn)
c.7590G>C (p.Lys2530Asn)
c.8310G>C (p.Lys2770Asn)
c.8808G>C (p.Lys2936Asn)
c.6405G>C (p.Lys2135Asn)
2g.237336289C>TCA431701509COL6A3c.1456G>A
c.8193G>A (p.Lys2731=)
c.938G>A
n.1078G>A
c.8811G>A (p.Lys2937=)
c.6987G>A (p.Lys2329=)
c.6990G>A (p.Lys2330=)
n.5253G>A
c.8211G>A (p.Lys2737=)
c.7590G>A (p.Lys2530=)
c.8310G>A (p.Lys2770=)
c.8808G>A (p.Lys2936=)
c.6405G>A (p.Lys2135=)
2g.237336290T>ACA351191432COL6A3c.1455A>T
c.8192A>T (p.Lys2731Met)
c.937A>T
n.1077A>T
c.8810A>T (p.Lys2937Met)
c.6986A>T (p.Lys2329Met)
c.6989A>T (p.Lys2330Met)
n.5252A>T
c.8210A>T (p.Lys2737Met)
c.7589A>T (p.Lys2530Met)
c.8309A>T (p.Lys2770Met)
c.8807A>T (p.Lys2936Met)
c.6404A>T (p.Lys2135Met)
2g.237336290T>CCA2187438COL6A3c.1455A>G
c.8192A>G (p.Lys2731Arg)
c.937A>G
n.1077A>G
c.8810A>G (p.Lys2937Arg)
c.6986A>G (p.Lys2329Arg)
c.6989A>G (p.Lys2330Arg)
n.5252A>G
c.8210A>G (p.Lys2737Arg)
c.7589A>G (p.Lys2530Arg)
c.8309A>G (p.Lys2770Arg)
c.8807A>G (p.Lys2936Arg)
c.6404A>G (p.Lys2135Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336290T>GCA351191436COL6A3c.1455A>C
c.8192A>C (p.Lys2731Thr)
c.937A>C
n.1077A>C
c.8810A>C (p.Lys2937Thr)
c.6986A>C (p.Lys2329Thr)
c.6989A>C (p.Lys2330Thr)
n.5252A>C
c.8210A>C (p.Lys2737Thr)
c.7589A>C (p.Lys2530Thr)
c.8309A>C (p.Lys2770Thr)
c.8807A>C (p.Lys2936Thr)
c.6404A>C (p.Lys2135Thr)
2g.237336290T=CA1337607118COL6A3c.1455A=
c.8192A= (p.Lys2731=)
c.937A=
n.1077A=
c.8810A= (p.Lys2937=)
c.6986A= (p.Lys2329=)
c.6989A= (p.Lys2330=)
n.5252A=
c.8210A= (p.Lys2737=)
c.7589A= (p.Lys2530=)
c.8309A= (p.Lys2770=)
c.8807A= (p.Lys2936=)
c.6404A= (p.Lys2135=)
2g.237336291T>ACA351191444COL6A3c.1454A>T
c.8191A>T (p.Lys2731Ter)
c.936A>T
n.1076A>T
c.8809A>T (p.Lys2937Ter)
c.6985A>T (p.Lys2329Ter)
c.6988A>T (p.Lys2330Ter)
n.5251A>T
c.8209A>T (p.Lys2737Ter)
c.7588A>T (p.Lys2530Ter)
c.8308A>T (p.Lys2770Ter)
c.8806A>T (p.Lys2936Ter)
c.6403A>T (p.Lys2135Ter)
2g.237336291T>CCA351191442COL6A3c.1454A>G
c.8191A>G (p.Lys2731Glu)
c.936A>G
n.1076A>G
c.8809A>G (p.Lys2937Glu)
c.6985A>G (p.Lys2329Glu)
c.6988A>G (p.Lys2330Glu)
n.5251A>G
c.8209A>G (p.Lys2737Glu)
c.7588A>G (p.Lys2530Glu)
c.8308A>G (p.Lys2770Glu)
c.8806A>G (p.Lys2936Glu)
c.6403A>G (p.Lys2135Glu)
2g.237336291T>GCA351191439COL6A3c.1454A>C
c.8191A>C (p.Lys2731Gln)
c.936A>C
n.1076A>C
c.8809A>C (p.Lys2937Gln)
c.6985A>C (p.Lys2329Gln)
c.6988A>C (p.Lys2330Gln)
n.5251A>C
c.8209A>C (p.Lys2737Gln)
c.7588A>C (p.Lys2530Gln)
c.8308A>C (p.Lys2770Gln)
c.8806A>C (p.Lys2936Gln)
c.6403A>C (p.Lys2135Gln)
2g.237336291_237336297delinsTCACCGCCA1337607119COL6A3c.1448_1454delinsGCGGTGA
c.8185_8191delinsGCGGTGA (p.Ala2729=)
c.930_936delinsGCGGTGA
n.1070_1076delinsGCGGTGA
c.8803_8809delinsGCGGTGA (p.Ala2935=)
c.6979_6985delinsGCGGTGA (p.Ala2327=)
c.6982_6988delinsGCGGTGA (p.Ala2328=)
n.5245_5251delinsGCGGTGA
c.8203_8209delinsGCGGTGA (p.Ala2735=)
c.7582_7588delinsGCGGTGA (p.Ala2528=)
c.8302_8308delinsGCGGTGA (p.Ala2768=)
c.8800_8806delinsGCGGTGA (p.Ala2934=)
c.6397_6403delinsGCGGTGA (p.Ala2133=)
2g.237336292C>ACA431701535COL6A3c.1453G>T
c.8190G>T (p.Val2730=)
c.935G>T
n.1075G>T
c.8808G>T (p.Val2936=)
c.6984G>T (p.Val2328=)
c.6987G>T (p.Val2329=)
n.5250G>T
c.8208G>T (p.Val2736=)
c.7587G>T (p.Val2529=)
c.8307G>T (p.Val2769=)
c.8805G>T (p.Val2935=)
c.6402G>T (p.Val2134=)
 COSMIC
2g.237336292C=CA1337607120COL6A3c.1453G=
c.8190G= (p.Val2730=)
c.935G=
n.1075G=
c.8808G= (p.Val2936=)
c.6984G= (p.Val2328=)
c.6987G= (p.Val2329=)
n.5250G=
c.8208G= (p.Val2736=)
c.7587G= (p.Val2529=)
c.8307G= (p.Val2769=)
c.8805G= (p.Val2935=)
c.6402G= (p.Val2134=)
2g.237336292C>GCA431701538COL6A3c.1453G>C
c.8190G>C (p.Val2730=)
c.935G>C
n.1075G>C
c.8808G>C (p.Val2936=)
c.6984G>C (p.Val2328=)
c.6987G>C (p.Val2329=)
n.5250G>C
c.8208G>C (p.Val2736=)
c.7587G>C (p.Val2529=)
c.8307G>C (p.Val2769=)
c.8805G>C (p.Val2935=)
c.6402G>C (p.Val2134=)
2g.237336292C>TCA2187439COL6A3c.1453G>A
c.8190G>A (p.Val2730=)
c.935G>A
n.1075G>A
c.8808G>A (p.Val2936=)
c.6984G>A (p.Val2328=)
c.6987G>A (p.Val2329=)
n.5250G>A
c.8208G>A (p.Val2736=)
c.7587G>A (p.Val2529=)
c.8307G>A (p.Val2769=)
c.8805G>A (p.Val2935=)
c.6402G>A (p.Val2134=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336295_237336300delCA540749774COL6A3c.1448_1453del
c.8185_8190del (p.Ala2729_Val2730del)
c.930_935del
n.1070_1075del
c.8803_8808del (p.Ala2935_Val2936del)
c.6979_6984del (p.Ala2327_Val2328del)
c.6982_6987del (p.Ala2328_Val2329del)
n.5245_5250del
c.8203_8208del (p.Ala2735_Val2736del)
c.7582_7587del (p.Ala2528_Val2529del)
c.8302_8307del (p.Ala2768_Val2769del)
c.8800_8805del (p.Ala2934_Val2935del)
c.6397_6402del (p.Ala2133_Val2134del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336293A=CA1337607121COL6A3c.1452T=
c.8189T= (p.Val2730=)
c.934T=
n.1074T=
c.8807T= (p.Val2936=)
c.6983T= (p.Val2328=)
c.6986T= (p.Val2329=)
n.5249T=
c.8207T= (p.Val2736=)
c.7586T= (p.Val2529=)
c.8306T= (p.Val2769=)
c.8804T= (p.Val2935=)
c.6401T= (p.Val2134=)
2g.237336293A>CCA351191449COL6A3c.1452T>G
c.8189T>G (p.Val2730Gly)
c.934T>G
n.1074T>G
c.8807T>G (p.Val2936Gly)
c.6983T>G (p.Val2328Gly)
c.6986T>G (p.Val2329Gly)
n.5249T>G
c.8207T>G (p.Val2736Gly)
c.7586T>G (p.Val2529Gly)
c.8306T>G (p.Val2769Gly)
c.8804T>G (p.Val2935Gly)
c.6401T>G (p.Val2134Gly)
2g.237336293A>GCA351191451COL6A3c.1452T>C
c.8189T>C (p.Val2730Ala)
c.934T>C
n.1074T>C
c.8807T>C (p.Val2936Ala)
c.6983T>C (p.Val2328Ala)
c.6986T>C (p.Val2329Ala)
n.5249T>C
c.8207T>C (p.Val2736Ala)
c.7586T>C (p.Val2529Ala)
c.8306T>C (p.Val2769Ala)
c.8804T>C (p.Val2935Ala)
c.6401T>C (p.Val2134Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237336293A>TCA351191475COL6A3c.1452T>A
c.8189T>A (p.Val2730Glu)
c.934T>A
n.1074T>A
c.8807T>A (p.Val2936Glu)
c.6983T>A (p.Val2328Glu)
c.6986T>A (p.Val2329Glu)
n.5249T>A
c.8207T>A (p.Val2736Glu)
c.7586T>A (p.Val2529Glu)
c.8306T>A (p.Val2769Glu)
c.8804T>A (p.Val2935Glu)
c.6401T>A (p.Val2134Glu)
2g.237336294C>ACA351191479COL6A3c.1451G>T
c.8188G>T (p.Val2730Leu)
c.933G>T
n.1073G>T
c.8806G>T (p.Val2936Leu)
c.6982G>T (p.Val2328Leu)
c.6985G>T (p.Val2329Leu)
n.5248G>T
c.8206G>T (p.Val2736Leu)
c.7585G>T (p.Val2529Leu)
c.8305G>T (p.Val2769Leu)
c.8803G>T (p.Val2935Leu)
c.6400G>T (p.Val2134Leu)
2g.237336294C>GCA351191481COL6A3c.1451G>C
c.8188G>C (p.Val2730Leu)
c.933G>C
n.1073G>C
c.8806G>C (p.Val2936Leu)
c.6982G>C (p.Val2328Leu)
c.6985G>C (p.Val2329Leu)
n.5248G>C
c.8206G>C (p.Val2736Leu)
c.7585G>C (p.Val2529Leu)
c.8305G>C (p.Val2769Leu)
c.8803G>C (p.Val2935Leu)
c.6400G>C (p.Val2134Leu)
2g.237336294C>TCA351191483COL6A3c.1451G>A
c.8188G>A (p.Val2730Met)
c.933G>A
n.1073G>A
c.8806G>A (p.Val2936Met)
c.6982G>A (p.Val2328Met)
c.6985G>A (p.Val2329Met)
n.5248G>A
c.8206G>A (p.Val2736Met)
c.7585G>A (p.Val2529Met)
c.8305G>A (p.Val2769Met)
c.8803G>A (p.Val2935Met)
c.6400G>A (p.Val2134Met)
 gnomAD v4
2g.237336295C>ACA431701561COL6A3c.1450G>T
c.8187G>T (p.Ala2729=)
c.932G>T
n.1072G>T
c.8805G>T (p.Ala2935=)
c.6981G>T (p.Ala2327=)
c.6984G>T (p.Ala2328=)
n.5247G>T
c.8205G>T (p.Ala2735=)
c.7584G>T (p.Ala2528=)
c.8304G>T (p.Ala2768=)
c.8802G>T (p.Ala2934=)
c.6399G>T (p.Ala2133=)
2g.237336295C=CA1337607122COL6A3c.1450G=
c.8187G= (p.Ala2729=)
c.932G=
n.1072G=
c.8805G= (p.Ala2935=)
c.6981G= (p.Ala2327=)
c.6984G= (p.Ala2328=)
n.5247G=
c.8205G= (p.Ala2735=)
c.7584G= (p.Ala2528=)
c.8304G= (p.Ala2768=)
c.8802G= (p.Ala2934=)
c.6399G= (p.Ala2133=)
2g.237336295C>GCA431701557COL6A3c.1450G>C
c.8187G>C (p.Ala2729=)
c.932G>C
n.1072G>C
c.8805G>C (p.Ala2935=)
c.6981G>C (p.Ala2327=)
c.6984G>C (p.Ala2328=)
n.5247G>C
c.8205G>C (p.Ala2735=)
c.7584G>C (p.Ala2528=)
c.8304G>C (p.Ala2768=)
c.8802G>C (p.Ala2934=)
c.6399G>C (p.Ala2133=)
2g.237336295C>TCA2187440COL6A3c.1450G>A
c.8187G>A (p.Ala2729=)
c.932G>A
n.1072G>A
c.8805G>A (p.Ala2935=)
c.6981G>A (p.Ala2327=)
c.6984G>A (p.Ala2328=)
n.5247G>A
c.8205G>A (p.Ala2735=)
c.7584G>A (p.Ala2528=)
c.8304G>A (p.Ala2768=)
c.8802G>A (p.Ala2934=)
c.6399G>A (p.Ala2133=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237336296G>ACA2187441COL6A3c.1449C>T
c.8186C>T (p.Ala2729Val)
c.931C>T
n.1071C>T
c.8804C>T (p.Ala2935Val)
c.6980C>T (p.Ala2327Val)
c.6983C>T (p.Ala2328Val)
n.5246C>T
c.8204C>T (p.Ala2735Val)
c.7583C>T (p.Ala2528Val)
c.8303C>T (p.Ala2768Val)
c.8801C>T (p.Ala2934Val)
c.6398C>T (p.Ala2133Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336296G>CCA351191489COL6A3c.1449C>G
c.8186C>G (p.Ala2729Gly)
c.931C>G
n.1071C>G
c.8804C>G (p.Ala2935Gly)
c.6980C>G (p.Ala2327Gly)
c.6983C>G (p.Ala2328Gly)
n.5246C>G
c.8204C>G (p.Ala2735Gly)
c.7583C>G (p.Ala2528Gly)
c.8303C>G (p.Ala2768Gly)
c.8801C>G (p.Ala2934Gly)
c.6398C>G (p.Ala2133Gly)
2g.237336296G=CA1337607123COL6A3c.1449C=
c.8186C= (p.Ala2729=)
c.931C=
n.1071C=
c.8804C= (p.Ala2935=)
c.6980C= (p.Ala2327=)
c.6983C= (p.Ala2328=)
n.5246C=
c.8204C= (p.Ala2735=)
c.7583C= (p.Ala2528=)
c.8303C= (p.Ala2768=)
c.8801C= (p.Ala2934=)
c.6398C= (p.Ala2133=)
2g.237336296G>TCA2187442COL6A3c.1449C>A
c.8186C>A (p.Ala2729Glu)
c.931C>A
n.1071C>A
c.8804C>A (p.Ala2935Glu)
c.6980C>A (p.Ala2327Glu)
c.6983C>A (p.Ala2328Glu)
n.5246C>A
c.8204C>A (p.Ala2735Glu)
c.7583C>A (p.Ala2528Glu)
c.8303C>A (p.Ala2768Glu)
c.8801C>A (p.Ala2934Glu)
c.6398C>A (p.Ala2133Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336297C>ACA351191493COL6A3c.1448G>T
c.8185G>T (p.Ala2729Ser)
c.930G>T
n.1070G>T
c.8803G>T (p.Ala2935Ser)
c.6979G>T (p.Ala2327Ser)
c.6982G>T (p.Ala2328Ser)
n.5245G>T
c.8203G>T (p.Ala2735Ser)
c.7582G>T (p.Ala2528Ser)
c.8302G>T (p.Ala2768Ser)
c.8800G>T (p.Ala2934Ser)
c.6397G>T (p.Ala2133Ser)
2g.237336297C>GCA351191495COL6A3c.1448G>C
c.8185G>C (p.Ala2729Pro)
c.930G>C
n.1070G>C
c.8803G>C (p.Ala2935Pro)
c.6979G>C (p.Ala2327Pro)
c.6982G>C (p.Ala2328Pro)
n.5245G>C
c.8203G>C (p.Ala2735Pro)
c.7582G>C (p.Ala2528Pro)
c.8302G>C (p.Ala2768Pro)
c.8800G>C (p.Ala2934Pro)
c.6397G>C (p.Ala2133Pro)
2g.237336297C>TCA351191505COL6A3c.1448G>A
c.8185G>A (p.Ala2729Thr)
c.930G>A
n.1070G>A
c.8803G>A (p.Ala2935Thr)
c.6979G>A (p.Ala2327Thr)
c.6982G>A (p.Ala2328Thr)
n.5245G>A
c.8203G>A (p.Ala2735Thr)
c.7582G>A (p.Ala2528Thr)
c.8302G>A (p.Ala2768Thr)
c.8800G>A (p.Ala2934Thr)
c.6397G>A (p.Ala2133Thr)
 gnomAD v4
2g.237336298C>ACA431701590COL6A3c.1447G>T
c.8184G>T (p.Val2728=)
c.929G>T
n.1069G>T
c.8802G>T (p.Val2934=)
c.6978G>T (p.Val2326=)
c.6981G>T (p.Val2327=)
n.5244G>T
c.8202G>T (p.Val2734=)
c.7581G>T (p.Val2527=)
c.8301G>T (p.Val2767=)
c.8799G>T (p.Val2933=)
c.6396G>T (p.Val2132=)
2g.237336298C>GCA431701593COL6A3c.1447G>C
c.8184G>C (p.Val2728=)
c.929G>C
n.1069G>C
c.8802G>C (p.Val2934=)
c.6978G>C (p.Val2326=)
c.6981G>C (p.Val2327=)
n.5244G>C
c.8202G>C (p.Val2734=)
c.7581G>C (p.Val2527=)
c.8301G>C (p.Val2767=)
c.8799G>C (p.Val2933=)
c.6396G>C (p.Val2132=)
2g.237336298C>TCA431701596COL6A3c.1447G>A
c.8184G>A (p.Val2728=)
c.929G>A
n.1069G>A
c.8802G>A (p.Val2934=)
c.6978G>A (p.Val2326=)
c.6981G>A (p.Val2327=)
n.5244G>A
c.8202G>A (p.Val2734=)
c.7581G>A (p.Val2527=)
c.8301G>A (p.Val2767=)
c.8799G>A (p.Val2933=)
c.6396G>A (p.Val2132=)
2g.237336299A=CA1337607124COL6A3c.1446T=
c.8183T= (p.Val2728=)
c.928T=
n.1068T=
c.8801T= (p.Val2934=)
c.6977T= (p.Val2326=)
c.6980T= (p.Val2327=)
n.5243T=
c.8201T= (p.Val2734=)
c.7580T= (p.Val2527=)
c.8300T= (p.Val2767=)
c.8798T= (p.Val2933=)
c.6395T= (p.Val2132=)
2g.237336299A>CCA351191508COL6A3c.1446T>G
c.8183T>G (p.Val2728Gly)
c.928T>G
n.1068T>G
c.8801T>G (p.Val2934Gly)
c.6977T>G (p.Val2326Gly)
c.6980T>G (p.Val2327Gly)
n.5243T>G
c.8201T>G (p.Val2734Gly)
c.7580T>G (p.Val2527Gly)
c.8300T>G (p.Val2767Gly)
c.8798T>G (p.Val2933Gly)
c.6395T>G (p.Val2132Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237336299A>GCA351191512COL6A3c.1446T>C
c.8183T>C (p.Val2728Ala)
c.928T>C
n.1068T>C
c.8801T>C (p.Val2934Ala)
c.6977T>C (p.Val2326Ala)
c.6980T>C (p.Val2327Ala)
n.5243T>C
c.8201T>C (p.Val2734Ala)
c.7580T>C (p.Val2527Ala)
c.8300T>C (p.Val2767Ala)
c.8798T>C (p.Val2933Ala)
c.6395T>C (p.Val2132Ala)
2g.237336299A>TCA351191511COL6A3c.1446T>A
c.8183T>A (p.Val2728Glu)
c.928T>A
n.1068T>A
c.8801T>A (p.Val2934Glu)
c.6977T>A (p.Val2326Glu)
c.6980T>A (p.Val2327Glu)
n.5243T>A
c.8201T>A (p.Val2734Glu)
c.7580T>A (p.Val2527Glu)
c.8300T>A (p.Val2767Glu)
c.8798T>A (p.Val2933Glu)
c.6395T>A (p.Val2132Glu)
 gnomAD v4
2g.237336300C>ACA351191513COL6A3c.1445G>T
c.8182G>T (p.Val2728Leu)
c.927G>T
n.1067G>T
c.8800G>T (p.Val2934Leu)
c.6976G>T (p.Val2326Leu)
c.6979G>T (p.Val2327Leu)
n.5242G>T
c.8200G>T (p.Val2734Leu)
c.7579G>T (p.Val2527Leu)
c.8299G>T (p.Val2767Leu)
c.8797G>T (p.Val2933Leu)
c.6394G>T (p.Val2132Leu)
2g.237336300C>GCA351191514COL6A3c.1445G>C
c.8182G>C (p.Val2728Leu)
c.927G>C
n.1067G>C
c.8800G>C (p.Val2934Leu)
c.6976G>C (p.Val2326Leu)
c.6979G>C (p.Val2327Leu)
n.5242G>C
c.8200G>C (p.Val2734Leu)
c.7579G>C (p.Val2527Leu)
c.8299G>C (p.Val2767Leu)
c.8797G>C (p.Val2933Leu)
c.6394G>C (p.Val2132Leu)
2g.237336300C>TCA351191516COL6A3c.1445G>A
c.8182G>A (p.Val2728Met)
c.927G>A
n.1067G>A
c.8800G>A (p.Val2934Met)
c.6976G>A (p.Val2326Met)
c.6979G>A (p.Val2327Met)
n.5242G>A
c.8200G>A (p.Val2734Met)
c.7579G>A (p.Val2527Met)
c.8299G>A (p.Val2767Met)
c.8797G>A (p.Val2933Met)
c.6394G>A (p.Val2132Met)
2g.237336301T>ACA2187444COL6A3c.1444A>T
c.8181A>T (p.Pro2727=)
c.926A>T
n.1066A>T
c.8799A>T (p.Pro2933=)
c.6975A>T (p.Pro2325=)
c.6978A>T (p.Pro2326=)
n.5241A>T
c.8199A>T (p.Pro2733=)
c.7578A>T (p.Pro2526=)
c.8298A>T (p.Pro2766=)
c.8796A>T (p.Pro2932=)
c.6393A>T (p.Pro2131=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336301T>CCA2187443COL6A3c.1444A>G
c.8181A>G (p.Pro2727=)
c.926A>G
n.1066A>G
c.8799A>G (p.Pro2933=)
c.6975A>G (p.Pro2325=)
c.6978A>G (p.Pro2326=)
n.5241A>G
c.8199A>G (p.Pro2733=)
c.7578A>G (p.Pro2526=)
c.8298A>G (p.Pro2766=)
c.8796A>G (p.Pro2932=)
c.6393A>G (p.Pro2131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336301T>GCA431701617COL6A3c.1444A>C
c.8181A>C (p.Pro2727=)
c.926A>C
n.1066A>C
c.8799A>C (p.Pro2933=)
c.6975A>C (p.Pro2325=)
c.6978A>C (p.Pro2326=)
n.5241A>C
c.8199A>C (p.Pro2733=)
c.7578A>C (p.Pro2526=)
c.8298A>C (p.Pro2766=)
c.8796A>C (p.Pro2932=)
c.6393A>C (p.Pro2131=)
 dbSNP gnomAD v2 gnomAD v4
2g.237336301T=CA1337607125COL6A3c.1444A=
c.8181A= (p.Pro2727=)
c.926A=
n.1066A=
c.8799A= (p.Pro2933=)
c.6975A= (p.Pro2325=)
c.6978A= (p.Pro2326=)
n.5241A=
c.8199A= (p.Pro2733=)
c.7578A= (p.Pro2526=)
c.8298A= (p.Pro2766=)
c.8796A= (p.Pro2932=)
c.6393A= (p.Pro2131=)
2g.237336302G>ACA2187445COL6A3c.1443C>T
c.8180C>T (p.Pro2727Leu)
c.925C>T
n.1065C>T
c.8798C>T (p.Pro2933Leu)
c.6974C>T (p.Pro2325Leu)
c.6977C>T (p.Pro2326Leu)
n.5240C>T
c.8198C>T (p.Pro2733Leu)
c.7577C>T (p.Pro2526Leu)
c.8297C>T (p.Pro2766Leu)
c.8795C>T (p.Pro2932Leu)
c.6392C>T (p.Pro2131Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336302G>CCA351191523COL6A3c.1443C>G
c.8180C>G (p.Pro2727Arg)
c.925C>G
n.1065C>G
c.8798C>G (p.Pro2933Arg)
c.6974C>G (p.Pro2325Arg)
c.6977C>G (p.Pro2326Arg)
n.5240C>G
c.8198C>G (p.Pro2733Arg)
c.7577C>G (p.Pro2526Arg)
c.8297C>G (p.Pro2766Arg)
c.8795C>G (p.Pro2932Arg)
c.6392C>G (p.Pro2131Arg)
2g.237336302G=CA1337607126COL6A3c.1443C=
c.8180C= (p.Pro2727=)
c.925C=
n.1065C=
c.8798C= (p.Pro2933=)
c.6974C= (p.Pro2325=)
c.6977C= (p.Pro2326=)
n.5240C=
c.8198C= (p.Pro2733=)
c.7577C= (p.Pro2526=)
c.8297C= (p.Pro2766=)
c.8795C= (p.Pro2932=)
c.6392C= (p.Pro2131=)
2g.237336302G>TCA351191525COL6A3c.1443C>A
c.8180C>A (p.Pro2727Gln)
c.925C>A
n.1065C>A
c.8798C>A (p.Pro2933Gln)
c.6974C>A (p.Pro2325Gln)
c.6977C>A (p.Pro2326Gln)
n.5240C>A
c.8198C>A (p.Pro2733Gln)
c.7577C>A (p.Pro2526Gln)
c.8297C>A (p.Pro2766Gln)
c.8795C>A (p.Pro2932Gln)
c.6392C>A (p.Pro2131Gln)
 ClinVar dbSNP
2g.237336303G>ACA351191530COL6A3c.1442C>T
c.8179C>T (p.Pro2727Ser)
c.924C>T
n.1064C>T
c.8797C>T (p.Pro2933Ser)
c.6973C>T (p.Pro2325Ser)
c.6976C>T (p.Pro2326Ser)
n.5239C>T
c.8197C>T (p.Pro2733Ser)
c.7576C>T (p.Pro2526Ser)
c.8296C>T (p.Pro2766Ser)
c.8794C>T (p.Pro2932Ser)
c.6391C>T (p.Pro2131Ser)
2g.237336303G>CCA351191532COL6A3c.1442C>G
c.8179C>G (p.Pro2727Ala)
c.924C>G
n.1064C>G
c.8797C>G (p.Pro2933Ala)
c.6973C>G (p.Pro2325Ala)
c.6976C>G (p.Pro2326Ala)
n.5239C>G
c.8197C>G (p.Pro2733Ala)
c.7576C>G (p.Pro2526Ala)
c.8296C>G (p.Pro2766Ala)
c.8794C>G (p.Pro2932Ala)
c.6391C>G (p.Pro2131Ala)
 COSMIC
2g.237336303G>TCA351191534COL6A3c.1442C>A
c.8179C>A (p.Pro2727Thr)
c.924C>A
n.1064C>A
c.8797C>A (p.Pro2933Thr)
c.6973C>A (p.Pro2325Thr)
c.6976C>A (p.Pro2326Thr)
n.5239C>A
c.8197C>A (p.Pro2733Thr)
c.7576C>A (p.Pro2526Thr)
c.8296C>A (p.Pro2766Thr)
c.8794C>A (p.Pro2932Thr)
c.6391C>A (p.Pro2131Thr)
2g.237336304G>ACA431701640COL6A3c.1441C>T
c.8178C>T (p.Pro2726=)
c.923C>T
n.1063C>T
c.8796C>T (p.Pro2932=)
c.6972C>T (p.Pro2324=)
c.6975C>T (p.Pro2325=)
n.5238C>T
c.8196C>T (p.Pro2732=)
c.7575C>T (p.Pro2525=)
c.8295C>T (p.Pro2765=)
c.8793C>T (p.Pro2931=)
c.6390C>T (p.Pro2130=)
2g.237336304G>CCA431701646COL6A3c.1441C>G
c.8178C>G (p.Pro2726=)
c.923C>G
n.1063C>G
c.8796C>G (p.Pro2932=)
c.6972C>G (p.Pro2324=)
c.6975C>G (p.Pro2325=)
n.5238C>G
c.8196C>G (p.Pro2732=)
c.7575C>G (p.Pro2525=)
c.8295C>G (p.Pro2765=)
c.8793C>G (p.Pro2931=)
c.6390C>G (p.Pro2130=)
 dbSNP gnomAD v4
2g.237336304G=CA1337607127COL6A3c.1441C=
c.8178C= (p.Pro2726=)
c.923C=
n.1063C=
c.8796C= (p.Pro2932=)
c.6972C= (p.Pro2324=)
c.6975C= (p.Pro2325=)
n.5238C=
c.8196C= (p.Pro2732=)
c.7575C= (p.Pro2525=)
c.8295C= (p.Pro2765=)
c.8793C= (p.Pro2931=)
c.6390C= (p.Pro2130=)
2g.237336304G>TCA431701643COL6A3c.1441C>A
c.8178C>A (p.Pro2726=)
c.923C>A
n.1063C>A
c.8796C>A (p.Pro2932=)
c.6972C>A (p.Pro2324=)
c.6975C>A (p.Pro2325=)
n.5238C>A
c.8196C>A (p.Pro2732=)
c.7575C>A (p.Pro2525=)
c.8295C>A (p.Pro2765=)
c.8793C>A (p.Pro2931=)
c.6390C>A (p.Pro2130=)
 dbSNP gnomAD v3 gnomAD v4
2g.237336305G>ACA351191537COL6A3c.1440C>T
c.8177C>T (p.Pro2726Leu)
c.922C>T
n.1062C>T
c.8795C>T (p.Pro2932Leu)
c.6971C>T (p.Pro2324Leu)
c.6974C>T (p.Pro2325Leu)
n.5237C>T
c.8195C>T (p.Pro2732Leu)
c.7574C>T (p.Pro2525Leu)
c.8294C>T (p.Pro2765Leu)
c.8792C>T (p.Pro2931Leu)
c.6389C>T (p.Pro2130Leu)
2g.237336305G>CCA351191536COL6A3c.1440C>G
c.8177C>G (p.Pro2726Arg)
c.922C>G
n.1062C>G
c.8795C>G (p.Pro2932Arg)
c.6971C>G (p.Pro2324Arg)
c.6974C>G (p.Pro2325Arg)
n.5237C>G
c.8195C>G (p.Pro2732Arg)
c.7574C>G (p.Pro2525Arg)
c.8294C>G (p.Pro2765Arg)
c.8792C>G (p.Pro2931Arg)
c.6389C>G (p.Pro2130Arg)
2g.237336305G>TCA351191535COL6A3c.1440C>A
c.8177C>A (p.Pro2726His)
c.922C>A
n.1062C>A
c.8795C>A (p.Pro2932His)
c.6971C>A (p.Pro2324His)
c.6974C>A (p.Pro2325His)
n.5237C>A
c.8195C>A (p.Pro2732His)
c.7574C>A (p.Pro2525His)
c.8294C>A (p.Pro2765His)
c.8792C>A (p.Pro2931His)
c.6389C>A (p.Pro2130His)
2g.237336306G>ACA67830560COL6A3c.1439C>T
c.8176C>T (p.Pro2726Ser)
c.921C>T
n.1061C>T
c.8794C>T (p.Pro2932Ser)
c.6970C>T (p.Pro2324Ser)
c.6973C>T (p.Pro2325Ser)
n.5236C>T
c.8194C>T (p.Pro2732Ser)
c.7573C>T (p.Pro2525Ser)
c.8293C>T (p.Pro2765Ser)
c.8791C>T (p.Pro2931Ser)
c.6388C>T (p.Pro2130Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336306G>CCA351191540COL6A3c.1439C>G
c.8176C>G (p.Pro2726Ala)
c.921C>G
n.1061C>G
c.8794C>G (p.Pro2932Ala)
c.6970C>G (p.Pro2324Ala)
c.6973C>G (p.Pro2325Ala)
n.5236C>G
c.8194C>G (p.Pro2732Ala)
c.7573C>G (p.Pro2525Ala)
c.8293C>G (p.Pro2765Ala)
c.8791C>G (p.Pro2931Ala)
c.6388C>G (p.Pro2130Ala)
2g.237336306G=CA1337607128COL6A3c.1439C=
c.8176C= (p.Pro2726=)
c.921C=
n.1061C=
c.8794C= (p.Pro2932=)
c.6970C= (p.Pro2324=)
c.6973C= (p.Pro2325=)
n.5236C=
c.8194C= (p.Pro2732=)
c.7573C= (p.Pro2525=)
c.8293C= (p.Pro2765=)
c.8791C= (p.Pro2931=)
c.6388C= (p.Pro2130=)
2g.237336306G>TCA351191542COL6A3c.1439C>A
c.8176C>A (p.Pro2726Thr)
c.921C>A
n.1061C>A
c.8794C>A (p.Pro2932Thr)
c.6970C>A (p.Pro2324Thr)
c.6973C>A (p.Pro2325Thr)
n.5236C>A
c.8194C>A (p.Pro2732Thr)
c.7573C>A (p.Pro2525Thr)
c.8293C>A (p.Pro2765Thr)
c.8791C>A (p.Pro2931Thr)
c.6388C>A (p.Pro2130Thr)
 gnomAD v4
2g.237336307T>ACA351191545COL6A3c.1438A>T
c.8175A>T (p.Arg2725Ser)
c.920A>T
n.1060A>T
c.8793A>T (p.Arg2931Ser)
c.6969A>T (p.Arg2323Ser)
c.6972A>T (p.Arg2324Ser)
n.5235A>T
c.8193A>T (p.Arg2731Ser)
c.7572A>T (p.Arg2524Ser)
c.8292A>T (p.Arg2764Ser)
c.8790A>T (p.Arg2930Ser)
c.6387A>T (p.Arg2129Ser)
2g.237336307T>CCA431701661COL6A3c.1438A>G
c.8175A>G (p.Arg2725=)
c.920A>G
n.1060A>G
c.8793A>G (p.Arg2931=)
c.6969A>G (p.Arg2323=)
c.6972A>G (p.Arg2324=)
n.5235A>G
c.8193A>G (p.Arg2731=)
c.7572A>G (p.Arg2524=)
c.8292A>G (p.Arg2764=)
c.8790A>G (p.Arg2930=)
c.6387A>G (p.Arg2129=)
2g.237336307T>GCA351191547COL6A3c.1438A>C
c.8175A>C (p.Arg2725Ser)
c.920A>C
n.1060A>C
c.8793A>C (p.Arg2931Ser)
c.6969A>C (p.Arg2323Ser)
c.6972A>C (p.Arg2324Ser)
n.5235A>C
c.8193A>C (p.Arg2731Ser)
c.7572A>C (p.Arg2524Ser)
c.8292A>C (p.Arg2764Ser)
c.8790A>C (p.Arg2930Ser)
c.6387A>C (p.Arg2129Ser)
 dbSNP
2g.237336307T=CA1337607129COL6A3c.1438A=
c.8175A= (p.Arg2725=)
c.920A=
n.1060A=
c.8793A= (p.Arg2931=)
c.6969A= (p.Arg2323=)
c.6972A= (p.Arg2324=)
n.5235A=
c.8193A= (p.Arg2731=)
c.7572A= (p.Arg2524=)
c.8292A= (p.Arg2764=)
c.8790A= (p.Arg2930=)
c.6387A= (p.Arg2129=)
2g.237336308C>ACA351191551COL6A3c.1437G>T
c.8174G>T (p.Arg2725Ile)
c.919G>T
n.1059G>T
c.8792G>T (p.Arg2931Ile)
c.6968G>T (p.Arg2323Ile)
c.6971G>T (p.Arg2324Ile)
n.5234G>T
c.8192G>T (p.Arg2731Ile)
c.7571G>T (p.Arg2524Ile)
c.8291G>T (p.Arg2764Ile)
c.8789G>T (p.Arg2930Ile)
c.6386G>T (p.Arg2129Ile)
2g.237336308C>GCA351191552COL6A3c.1437G>C
c.8174G>C (p.Arg2725Thr)
c.919G>C
n.1059G>C
c.8792G>C (p.Arg2931Thr)
c.6968G>C (p.Arg2323Thr)
c.6971G>C (p.Arg2324Thr)
n.5234G>C
c.8192G>C (p.Arg2731Thr)
c.7571G>C (p.Arg2524Thr)
c.8291G>C (p.Arg2764Thr)
c.8789G>C (p.Arg2930Thr)
c.6386G>C (p.Arg2129Thr)
2g.237336308C>TCA351191555COL6A3c.1437G>A
c.8174G>A (p.Arg2725Lys)
c.919G>A
n.1059G>A
c.8792G>A (p.Arg2931Lys)
c.6968G>A (p.Arg2323Lys)
c.6971G>A (p.Arg2324Lys)
n.5234G>A
c.8192G>A (p.Arg2731Lys)
c.7571G>A (p.Arg2524Lys)
c.8291G>A (p.Arg2764Lys)
c.8789G>A (p.Arg2930Lys)
c.6386G>A (p.Arg2129Lys)
2g.237336309T>ACA351191558COL6A3c.1436A>T
c.8173A>T (p.Arg2725Ter)
c.918A>T
n.1058A>T
c.8791A>T (p.Arg2931Ter)
c.6967A>T (p.Arg2323Ter)
c.6970A>T (p.Arg2324Ter)
n.5233A>T
c.8191A>T (p.Arg2731Ter)
c.7570A>T (p.Arg2524Ter)
c.8290A>T (p.Arg2764Ter)
c.8788A>T (p.Arg2930Ter)
c.6385A>T (p.Arg2129Ter)
2g.237336309T>CCA351191560COL6A3c.1436A>G
c.8173A>G (p.Arg2725Gly)
c.918A>G
n.1058A>G
c.8791A>G (p.Arg2931Gly)
c.6967A>G (p.Arg2323Gly)
c.6970A>G (p.Arg2324Gly)
n.5233A>G
c.8191A>G (p.Arg2731Gly)
c.7570A>G (p.Arg2524Gly)
c.8290A>G (p.Arg2764Gly)
c.8788A>G (p.Arg2930Gly)
c.6385A>G (p.Arg2129Gly)
2g.237336309T>GCA431701672COL6A3c.1436A>C
c.8173A>C (p.Arg2725=)
c.918A>C
n.1058A>C
c.8791A>C (p.Arg2931=)
c.6967A>C (p.Arg2323=)
c.6970A>C (p.Arg2324=)
n.5233A>C
c.8191A>C (p.Arg2731=)
c.7570A>C (p.Arg2524=)
c.8290A>C (p.Arg2764=)
c.8788A>C (p.Arg2930=)
c.6385A>C (p.Arg2129=)
2g.237336310A>CCA431701675COL6A3c.1435T>G
c.8172T>G (p.Val2724=)
c.917T>G
n.1057T>G
c.8790T>G (p.Val2930=)
c.6966T>G (p.Val2322=)
c.6969T>G (p.Val2323=)
n.5232T>G
c.8190T>G (p.Val2730=)
c.7569T>G (p.Val2523=)
c.8289T>G (p.Val2763=)
c.8787T>G (p.Val2929=)
c.6384T>G (p.Val2128=)
2g.237336310A>GCA431701678COL6A3c.1435T>C
c.8172T>C (p.Val2724=)
c.917T>C
n.1057T>C
c.8790T>C (p.Val2930=)
c.6966T>C (p.Val2322=)
c.6969T>C (p.Val2323=)
n.5232T>C
c.8190T>C (p.Val2730=)
c.7569T>C (p.Val2523=)
c.8289T>C (p.Val2763=)
c.8787T>C (p.Val2929=)
c.6384T>C (p.Val2128=)
2g.237336310A>TCA431701682COL6A3c.1435T>A
c.8172T>A (p.Val2724=)
c.917T>A
n.1057T>A
c.8790T>A (p.Val2930=)
c.6966T>A (p.Val2322=)
c.6969T>A (p.Val2323=)
n.5232T>A
c.8190T>A (p.Val2730=)
c.7569T>A (p.Val2523=)
c.8289T>A (p.Val2763=)
c.8787T>A (p.Val2929=)
c.6384T>A (p.Val2128=)
2g.237336311A=CA1337607130COL6A3c.1434T=
c.8171T= (p.Val2724=)
c.916T=
n.1056T=
c.8789T= (p.Val2930=)
c.6965T= (p.Val2322=)
c.6968T= (p.Val2323=)
n.5231T=
c.8189T= (p.Val2730=)
c.7568T= (p.Val2523=)
c.8288T= (p.Val2763=)
c.8786T= (p.Val2929=)
c.6383T= (p.Val2128=)
2g.237336311A>CCA351191562COL6A3c.1434T>G
c.8171T>G (p.Val2724Gly)
c.916T>G
n.1056T>G
c.8789T>G (p.Val2930Gly)
c.6965T>G (p.Val2322Gly)
c.6968T>G (p.Val2323Gly)
n.5231T>G
c.8189T>G (p.Val2730Gly)
c.7568T>G (p.Val2523Gly)
c.8288T>G (p.Val2763Gly)
c.8786T>G (p.Val2929Gly)
c.6383T>G (p.Val2128Gly)
2g.237336311A>GCA351191563COL6A3c.1434T>C
c.8171T>C (p.Val2724Ala)
c.916T>C
n.1056T>C
c.8789T>C (p.Val2930Ala)
c.6965T>C (p.Val2322Ala)
c.6968T>C (p.Val2323Ala)
n.5231T>C
c.8189T>C (p.Val2730Ala)
c.7568T>C (p.Val2523Ala)
c.8288T>C (p.Val2763Ala)
c.8786T>C (p.Val2929Ala)
c.6383T>C (p.Val2128Ala)
 ClinVar dbSNP
2g.237336311A>TCA351191564COL6A3c.1434T>A
c.8171T>A (p.Val2724Asp)
c.916T>A
n.1056T>A
c.8789T>A (p.Val2930Asp)
c.6965T>A (p.Val2322Asp)
c.6968T>A (p.Val2323Asp)
n.5231T>A
c.8189T>A (p.Val2730Asp)
c.7568T>A (p.Val2523Asp)
c.8288T>A (p.Val2763Asp)
c.8786T>A (p.Val2929Asp)
c.6383T>A (p.Val2128Asp)
2g.237336312C>ACA351191565COL6A3c.1433G>T
c.8170G>T (p.Val2724Phe)
c.915G>T
n.1055G>T
c.8788G>T (p.Val2930Phe)
c.6964G>T (p.Val2322Phe)
c.6967G>T (p.Val2323Phe)
n.5230G>T
c.8188G>T (p.Val2730Phe)
c.7567G>T (p.Val2523Phe)
c.8287G>T (p.Val2763Phe)
c.8785G>T (p.Val2929Phe)
c.6382G>T (p.Val2128Phe)
2g.237336312C=CA1337607131COL6A3c.1433G=
c.8170G= (p.Val2724=)
c.915G=
n.1055G=
c.8788G= (p.Val2930=)
c.6964G= (p.Val2322=)
c.6967G= (p.Val2323=)
n.5230G=
c.8188G= (p.Val2730=)
c.7567G= (p.Val2523=)
c.8287G= (p.Val2763=)
c.8785G= (p.Val2929=)
c.6382G= (p.Val2128=)
2g.237336312C>GCA351191567COL6A3c.1433G>C
c.8170G>C (p.Val2724Leu)
c.915G>C
n.1055G>C
c.8788G>C (p.Val2930Leu)
c.6964G>C (p.Val2322Leu)
c.6967G>C (p.Val2323Leu)
n.5230G>C
c.8188G>C (p.Val2730Leu)
c.7567G>C (p.Val2523Leu)
c.8287G>C (p.Val2763Leu)
c.8785G>C (p.Val2929Leu)
c.6382G>C (p.Val2128Leu)
2g.237336312C>TCA351191569COL6A3c.1433G>A
c.8170G>A (p.Val2724Ile)
c.915G>A
n.1055G>A
c.8788G>A (p.Val2930Ile)
c.6964G>A (p.Val2322Ile)
c.6967G>A (p.Val2323Ile)
n.5230G>A
c.8188G>A (p.Val2730Ile)
c.7567G>A (p.Val2523Ile)
c.8287G>A (p.Val2763Ile)
c.8785G>A (p.Val2929Ile)
c.6382G>A (p.Val2128Ile)
 dbSNP gnomAD v4
2g.237336313A>CCA431701699COL6A3c.1432T>G
c.8169T>G (p.Thr2723=)
c.914T>G
n.1054T>G
c.8787T>G (p.Thr2929=)
c.6963T>G (p.Thr2321=)
c.6966T>G (p.Thr2322=)
n.5229T>G
c.8187T>G (p.Thr2729=)
c.7566T>G (p.Thr2522=)
c.8286T>G (p.Thr2762=)
c.8784T>G (p.Thr2928=)
c.6381T>G (p.Thr2127=)
2g.237336313A>GCA431701700COL6A3c.1432T>C
c.8169T>C (p.Thr2723=)
c.914T>C
n.1054T>C
c.8787T>C (p.Thr2929=)
c.6963T>C (p.Thr2321=)
c.6966T>C (p.Thr2322=)
n.5229T>C
c.8187T>C (p.Thr2729=)
c.7566T>C (p.Thr2522=)
c.8286T>C (p.Thr2762=)
c.8784T>C (p.Thr2928=)
c.6381T>C (p.Thr2127=)
2g.237336313A>TCA431701701COL6A3c.1432T>A
c.8169T>A (p.Thr2723=)
c.914T>A
n.1054T>A
c.8787T>A (p.Thr2929=)
c.6963T>A (p.Thr2321=)
c.6966T>A (p.Thr2322=)
n.5229T>A
c.8187T>A (p.Thr2729=)
c.7566T>A (p.Thr2522=)
c.8286T>A (p.Thr2762=)
c.8784T>A (p.Thr2928=)
c.6381T>A (p.Thr2127=)
2g.237336314G>ACA351191572COL6A3c.1431C>T
c.8168C>T (p.Thr2723Ile)
c.913C>T
n.1053C>T
c.8786C>T (p.Thr2929Ile)
c.6962C>T (p.Thr2321Ile)
c.6965C>T (p.Thr2322Ile)
n.5228C>T
c.8186C>T (p.Thr2729Ile)
c.7565C>T (p.Thr2522Ile)
c.8285C>T (p.Thr2762Ile)
c.8783C>T (p.Thr2928Ile)
c.6380C>T (p.Thr2127Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.237336314G>CCA351191581COL6A3c.1431C>G
c.8168C>G (p.Thr2723Ser)
c.913C>G
n.1053C>G
c.8786C>G (p.Thr2929Ser)
c.6962C>G (p.Thr2321Ser)
c.6965C>G (p.Thr2322Ser)
n.5228C>G
c.8186C>G (p.Thr2729Ser)
c.7565C>G (p.Thr2522Ser)
c.8285C>G (p.Thr2762Ser)
c.8783C>G (p.Thr2928Ser)
c.6380C>G (p.Thr2127Ser)
2g.237336314G=CA1337607132COL6A3c.1431C=
c.8168C= (p.Thr2723=)
c.913C=
n.1053C=
c.8786C= (p.Thr2929=)
c.6962C= (p.Thr2321=)
c.6965C= (p.Thr2322=)
n.5228C=
c.8186C= (p.Thr2729=)
c.7565C= (p.Thr2522=)
c.8285C= (p.Thr2762=)
c.8783C= (p.Thr2928=)
c.6380C= (p.Thr2127=)
2g.237336314G>TCA351191579COL6A3c.1431C>A
c.8168C>A (p.Thr2723Asn)
c.913C>A
n.1053C>A
c.8786C>A (p.Thr2929Asn)
c.6962C>A (p.Thr2321Asn)
c.6965C>A (p.Thr2322Asn)
n.5228C>A
c.8186C>A (p.Thr2729Asn)
c.7565C>A (p.Thr2522Asn)
c.8285C>A (p.Thr2762Asn)
c.8783C>A (p.Thr2928Asn)
c.6380C>A (p.Thr2127Asn)
2g.237336315T>ACA351191584COL6A3c.1430A>T
c.8167A>T (p.Thr2723Ser)
c.912A>T
n.1052A>T
c.8785A>T (p.Thr2929Ser)
c.6961A>T (p.Thr2321Ser)
c.6964A>T (p.Thr2322Ser)
n.5227A>T
c.8185A>T (p.Thr2729Ser)
c.7564A>T (p.Thr2522Ser)
c.8284A>T (p.Thr2762Ser)
c.8782A>T (p.Thr2928Ser)
c.6379A>T (p.Thr2127Ser)
2g.237336315T>CCA351191585COL6A3c.1430A>G
c.8167A>G (p.Thr2723Ala)
c.912A>G
n.1052A>G
c.8785A>G (p.Thr2929Ala)
c.6961A>G (p.Thr2321Ala)
c.6964A>G (p.Thr2322Ala)
n.5227A>G
c.8185A>G (p.Thr2729Ala)
c.7564A>G (p.Thr2522Ala)
c.8284A>G (p.Thr2762Ala)
c.8782A>G (p.Thr2928Ala)
c.6379A>G (p.Thr2127Ala)
2g.237336315T>GCA351191586COL6A3c.1430A>C
c.8167A>C (p.Thr2723Pro)
c.912A>C
n.1052A>C
c.8785A>C (p.Thr2929Pro)
c.6961A>C (p.Thr2321Pro)
c.6964A>C (p.Thr2322Pro)
n.5227A>C
c.8185A>C (p.Thr2729Pro)
c.7564A>C (p.Thr2522Pro)
c.8284A>C (p.Thr2762Pro)
c.8782A>C (p.Thr2928Pro)
c.6379A>C (p.Thr2127Pro)
2g.237336316G>ACA431701715COL6A3c.1429C>T
c.8166C>T (p.Ala2722=)
c.911C>T
n.1051C>T
c.8784C>T (p.Ala2928=)
c.6960C>T (p.Ala2320=)
c.6963C>T (p.Ala2321=)
n.5226C>T
c.8184C>T (p.Ala2728=)
c.7563C>T (p.Ala2521=)
c.8283C>T (p.Ala2761=)
c.8781C>T (p.Ala2927=)
c.6378C>T (p.Ala2126=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336316G>CCA431701722COL6A3c.1429C>G
c.8166C>G (p.Ala2722=)
c.911C>G
n.1051C>G
c.8784C>G (p.Ala2928=)
c.6960C>G (p.Ala2320=)
c.6963C>G (p.Ala2321=)
n.5226C>G
c.8184C>G (p.Ala2728=)
c.7563C>G (p.Ala2521=)
c.8283C>G (p.Ala2761=)
c.8781C>G (p.Ala2927=)
c.6378C>G (p.Ala2126=)
2g.237336316G=CA1337607133COL6A3c.1429C=
c.8166C= (p.Ala2722=)
c.911C=
n.1051C=
c.8784C= (p.Ala2928=)
c.6960C= (p.Ala2320=)
c.6963C= (p.Ala2321=)
n.5226C=
c.8184C= (p.Ala2728=)
c.7563C= (p.Ala2521=)
c.8283C= (p.Ala2761=)
c.8781C= (p.Ala2927=)
c.6378C= (p.Ala2126=)
2g.237336316G>TCA431701718COL6A3c.1429C>A
c.8166C>A (p.Ala2722=)
c.911C>A
n.1051C>A
c.8784C>A (p.Ala2928=)
c.6960C>A (p.Ala2320=)
c.6963C>A (p.Ala2321=)
n.5226C>A
c.8184C>A (p.Ala2728=)
c.7563C>A (p.Ala2521=)
c.8283C>A (p.Ala2761=)
c.8781C>A (p.Ala2927=)
c.6378C>A (p.Ala2126=)
2g.237336317G>ACA351191587COL6A3c.1428C>T
c.8165C>T (p.Ala2722Val)
c.910C>T
n.1050C>T
c.8783C>T (p.Ala2928Val)
c.6959C>T (p.Ala2320Val)
c.6962C>T (p.Ala2321Val)
n.5225C>T
c.8183C>T (p.Ala2728Val)
c.7562C>T (p.Ala2521Val)
c.8282C>T (p.Ala2761Val)
c.8780C>T (p.Ala2927Val)
c.6377C>T (p.Ala2126Val)
2g.237336317G>CCA351191589COL6A3c.1428C>G
c.8165C>G (p.Ala2722Gly)
c.910C>G
n.1050C>G
c.8783C>G (p.Ala2928Gly)
c.6959C>G (p.Ala2320Gly)
c.6962C>G (p.Ala2321Gly)
n.5225C>G
c.8183C>G (p.Ala2728Gly)
c.7562C>G (p.Ala2521Gly)
c.8282C>G (p.Ala2761Gly)
c.8780C>G (p.Ala2927Gly)
c.6377C>G (p.Ala2126Gly)
2g.237336317G>TCA351191590COL6A3c.1428C>A
c.8165C>A (p.Ala2722Asp)
c.910C>A
n.1050C>A
c.8783C>A (p.Ala2928Asp)
c.6959C>A (p.Ala2320Asp)
c.6962C>A (p.Ala2321Asp)
n.5225C>A
c.8183C>A (p.Ala2728Asp)
c.7562C>A (p.Ala2521Asp)
c.8282C>A (p.Ala2761Asp)
c.8780C>A (p.Ala2927Asp)
c.6377C>A (p.Ala2126Asp)
2g.237336318C>ACA351191591COL6A3c.1427G>T
c.8164G>T (p.Ala2722Ser)
c.909G>T
n.1049G>T
c.8782G>T (p.Ala2928Ser)
c.6958G>T (p.Ala2320Ser)
c.6961G>T (p.Ala2321Ser)
n.5224G>T
c.8182G>T (p.Ala2728Ser)
c.7561G>T (p.Ala2521Ser)
c.8281G>T (p.Ala2761Ser)
c.8779G>T (p.Ala2927Ser)
c.6376G>T (p.Ala2126Ser)
2g.237336318C>GCA351191592COL6A3c.1427G>C
c.8164G>C (p.Ala2722Pro)
c.909G>C
n.1049G>C
c.8782G>C (p.Ala2928Pro)
c.6958G>C (p.Ala2320Pro)
c.6961G>C (p.Ala2321Pro)
n.5224G>C
c.8182G>C (p.Ala2728Pro)
c.7561G>C (p.Ala2521Pro)
c.8281G>C (p.Ala2761Pro)
c.8779G>C (p.Ala2927Pro)
c.6376G>C (p.Ala2126Pro)
2g.237336318C>TCA351191593COL6A3c.1427G>A
c.8164G>A (p.Ala2722Thr)
c.909G>A
n.1049G>A
c.8782G>A (p.Ala2928Thr)
c.6958G>A (p.Ala2320Thr)
c.6961G>A (p.Ala2321Thr)
n.5224G>A
c.8182G>A (p.Ala2728Thr)
c.7561G>A (p.Ala2521Thr)
c.8281G>A (p.Ala2761Thr)
c.8779G>A (p.Ala2927Thr)
c.6376G>A (p.Ala2126Thr)
 ClinVar gnomAD v4
2g.237336319C>ACA2187446COL6A3c.1426G>T
c.8163G>T (p.Met2721Ile)
c.908G>T
n.1048G>T
c.8781G>T (p.Met2927Ile)
c.6957G>T (p.Met2319Ile)
c.6960G>T (p.Met2320Ile)
n.5223G>T
c.8181G>T (p.Met2727Ile)
c.7560G>T (p.Met2520Ile)
c.8280G>T (p.Met2760Ile)
c.8778G>T (p.Met2926Ile)
c.6375G>T (p.Met2125Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336319C=CA1337607134COL6A3c.1426G=
c.8163G= (p.Met2721=)
c.908G=
n.1048G=
c.8781G= (p.Met2927=)
c.6957G= (p.Met2319=)
c.6960G= (p.Met2320=)
n.5223G=
c.8181G= (p.Met2727=)
c.7560G= (p.Met2520=)
c.8280G= (p.Met2760=)
c.8778G= (p.Met2926=)
c.6375G= (p.Met2125=)
2g.237336319C>GCA351191594COL6A3c.1426G>C
c.8163G>C (p.Met2721Ile)
c.908G>C
n.1048G>C
c.8781G>C (p.Met2927Ile)
c.6957G>C (p.Met2319Ile)
c.6960G>C (p.Met2320Ile)
n.5223G>C
c.8181G>C (p.Met2727Ile)
c.7560G>C (p.Met2520Ile)
c.8280G>C (p.Met2760Ile)
c.8778G>C (p.Met2926Ile)
c.6375G>C (p.Met2125Ile)
2g.237336319C>TCA351191595COL6A3c.1426G>A
c.8163G>A (p.Met2721Ile)
c.908G>A
n.1048G>A
c.8781G>A (p.Met2927Ile)
c.6957G>A (p.Met2319Ile)
c.6960G>A (p.Met2320Ile)
n.5223G>A
c.8181G>A (p.Met2727Ile)
c.7560G>A (p.Met2520Ile)
c.8280G>A (p.Met2760Ile)
c.8778G>A (p.Met2926Ile)
c.6375G>A (p.Met2125Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.237336319_237336320delinsAGCA2573135627COL6A3c.1425_1426delinsCT
c.8162_8163delinsCT (p.Met2721Thr)
c.907_908delinsCT
n.1047_1048delinsCT
c.8780_8781delinsCT (p.Met2927Thr)
c.6956_6957delinsCT (p.Met2319Thr)
c.6959_6960delinsCT (p.Met2320Thr)
n.5222_5223delinsCT
c.8180_8181delinsCT (p.Met2727Thr)
c.7559_7560delinsCT (p.Met2520Thr)
c.8279_8280delinsCT (p.Met2760Thr)
c.8777_8778delinsCT (p.Met2926Thr)
c.6374_6375delinsCT (p.Met2125Thr)
 ClinVar dbSNP
2g.237336319_237336320delinsTGCA2580066109COL6A3c.1425_1426delinsCA
c.8162_8163delinsCA (p.Met2721Thr)
c.907_908delinsCA
n.1047_1048delinsCA
c.8780_8781delinsCA (p.Met2927Thr)
c.6956_6957delinsCA (p.Met2319Thr)
c.6959_6960delinsCA (p.Met2320Thr)
n.5222_5223delinsCA
c.8180_8181delinsCA (p.Met2727Thr)
c.7559_7560delinsCA (p.Met2520Thr)
c.8279_8280delinsCA (p.Met2760Thr)
c.8777_8778delinsCA (p.Met2926Thr)
c.6374_6375delinsCA (p.Met2125Thr)
 ClinVar
2g.237336320A=CA1337607135COL6A3c.1425T=
c.8162T= (p.Met2721=)
c.907T=
n.1047T=
c.8780T= (p.Met2927=)
c.6956T= (p.Met2319=)
c.6959T= (p.Met2320=)
n.5222T=
c.8180T= (p.Met2727=)
c.7559T= (p.Met2520=)
c.8279T= (p.Met2760=)
c.8777T= (p.Met2926=)
c.6374T= (p.Met2125=)
2g.237336320A>CCA351191596COL6A3c.1425T>G
c.8162T>G (p.Met2721Arg)
c.907T>G
n.1047T>G
c.8780T>G (p.Met2927Arg)
c.6956T>G (p.Met2319Arg)
c.6959T>G (p.Met2320Arg)
n.5222T>G
c.8180T>G (p.Met2727Arg)
c.7559T>G (p.Met2520Arg)
c.8279T>G (p.Met2760Arg)
c.8777T>G (p.Met2926Arg)
c.6374T>G (p.Met2125Arg)
 dbSNP
2g.237336320A>GCA148069COL6A3c.1425T>C
c.8162T>C (p.Met2721Thr)
c.907T>C
n.1047T>C
c.8780T>C (p.Met2927Thr)
c.6956T>C (p.Met2319Thr)
c.6959T>C (p.Met2320Thr)
n.5222T>C
c.8180T>C (p.Met2727Thr)
c.7559T>C (p.Met2520Thr)
c.8279T>C (p.Met2760Thr)
c.8777T>C (p.Met2926Thr)
c.6374T>C (p.Met2125Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336320A>TCA351191597COL6A3c.1425T>A
c.8162T>A (p.Met2721Lys)
c.907T>A
n.1047T>A
c.8780T>A (p.Met2927Lys)
c.6956T>A (p.Met2319Lys)
c.6959T>A (p.Met2320Lys)
n.5222T>A
c.8180T>A (p.Met2727Lys)
c.7559T>A (p.Met2520Lys)
c.8279T>A (p.Met2760Lys)
c.8777T>A (p.Met2926Lys)
c.6374T>A (p.Met2125Lys)
2g.237336320_237336321delinsGACA2573135628COL6A3c.1424_1425delinsTC
c.8161_8162delinsTC (p.Met2721Ser)
c.906_907delinsTC
n.1046_1047delinsTC
c.8779_8780delinsTC (p.Met2927Ser)
c.6955_6956delinsTC (p.Met2319Ser)
c.6958_6959delinsTC (p.Met2320Ser)
n.5221_5222delinsTC
c.8179_8180delinsTC (p.Met2727Ser)
c.7558_7559delinsTC (p.Met2520Ser)
c.8278_8279delinsTC (p.Met2760Ser)
c.8776_8777delinsTC (p.Met2926Ser)
c.6373_6374delinsTC (p.Met2125Ser)
 ClinVar dbSNP
2g.237336321T>ACA351191599COL6A3c.1424A>T
c.8161A>T (p.Met2721Leu)
c.906A>T
n.1046A>T
c.8779A>T (p.Met2927Leu)
c.6955A>T (p.Met2319Leu)
c.6958A>T (p.Met2320Leu)
n.5221A>T
c.8179A>T (p.Met2727Leu)
c.7558A>T (p.Met2520Leu)
c.8278A>T (p.Met2760Leu)
c.8776A>T (p.Met2926Leu)
c.6373A>T (p.Met2125Leu)
 gnomAD v4
2g.237336321T>CCA351191601COL6A3c.1424A>G
c.8161A>G (p.Met2721Val)
c.906A>G
n.1046A>G
c.8779A>G (p.Met2927Val)
c.6955A>G (p.Met2319Val)
c.6958A>G (p.Met2320Val)
n.5221A>G
c.8179A>G (p.Met2727Val)
c.7558A>G (p.Met2520Val)
c.8278A>G (p.Met2760Val)
c.8776A>G (p.Met2926Val)
c.6373A>G (p.Met2125Val)
 dbSNP gnomAD v2 gnomAD v4
2g.237336321T>GCA351191603COL6A3c.1424A>C
c.8161A>C (p.Met2721Leu)
c.906A>C
n.1046A>C
c.8779A>C (p.Met2927Leu)
c.6955A>C (p.Met2319Leu)
c.6958A>C (p.Met2320Leu)
n.5221A>C
c.8179A>C (p.Met2727Leu)
c.7558A>C (p.Met2520Leu)
c.8278A>C (p.Met2760Leu)
c.8776A>C (p.Met2926Leu)
c.6373A>C (p.Met2125Leu)
2g.237336321T=CA1337607136COL6A3c.1424A=
c.8161A= (p.Met2721=)
c.906A=
n.1046A=
c.8779A= (p.Met2927=)
c.6955A= (p.Met2319=)
c.6958A= (p.Met2320=)
n.5221A=
c.8179A= (p.Met2727=)
c.7558A= (p.Met2520=)
c.8278A= (p.Met2760=)
c.8776A= (p.Met2926=)
c.6373A= (p.Met2125=)
2g.237336322C>ACA351191605COL6A3c.1423G>T
c.8160G>T (p.Lys2720Asn)
c.905G>T
n.1045G>T
c.8778G>T (p.Lys2926Asn)
c.6954G>T (p.Lys2318Asn)
c.6957G>T (p.Lys2319Asn)
n.5220G>T
c.8178G>T (p.Lys2726Asn)
c.7557G>T (p.Lys2519Asn)
c.8277G>T (p.Lys2759Asn)
c.8775G>T (p.Lys2925Asn)
c.6372G>T (p.Lys2124Asn)
2g.237336322C=CA1337607137COL6A3c.1423G=
c.8160G= (p.Lys2720=)
c.905G=
n.1045G=
c.8778G= (p.Lys2926=)
c.6954G= (p.Lys2318=)
c.6957G= (p.Lys2319=)
n.5220G=
c.8178G= (p.Lys2726=)
c.7557G= (p.Lys2519=)
c.8277G= (p.Lys2759=)
c.8775G= (p.Lys2925=)
c.6372G= (p.Lys2124=)
2g.237336322C>GCA351191607COL6A3c.1423G>C
c.8160G>C (p.Lys2720Asn)
c.905G>C
n.1045G>C
c.8778G>C (p.Lys2926Asn)
c.6954G>C (p.Lys2318Asn)
c.6957G>C (p.Lys2319Asn)
n.5220G>C
c.8178G>C (p.Lys2726Asn)
c.7557G>C (p.Lys2519Asn)
c.8277G>C (p.Lys2759Asn)
c.8775G>C (p.Lys2925Asn)
c.6372G>C (p.Lys2124Asn)
 dbSNP gnomAD v4
2g.237336322C>TCA431701770COL6A3c.1423G>A
c.8160G>A (p.Lys2720=)
c.905G>A
n.1045G>A
c.8778G>A (p.Lys2926=)
c.6954G>A (p.Lys2318=)
c.6957G>A (p.Lys2319=)
n.5220G>A
c.8178G>A (p.Lys2726=)
c.7557G>A (p.Lys2519=)
c.8277G>A (p.Lys2759=)
c.8775G>A (p.Lys2925=)
c.6372G>A (p.Lys2124=)

Number of alleles fetched