Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237340494G>ACA351194575COL6A3c.1067C>T
c.7804C>T (p.Pro2602Ser)
c.425C>T
n.689C>T
c.8422C>T (p.Pro2808Ser)
c.6598C>T (p.Pro2200Ser)
n.109C>T
c.6601C>T (p.Pro2201Ser)
n.4864C>T
c.7822C>T (p.Pro2608Ser)
c.7201C>T (p.Pro2401Ser)
c.7921C>T (p.Pro2641Ser)
c.8419C>T (p.Pro2807Ser)
c.6016C>T (p.Pro2006Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237340494G>CCA351194578COL6A3c.1067C>G
c.7804C>G (p.Pro2602Ala)
c.425C>G
n.689C>G
c.8422C>G (p.Pro2808Ala)
c.6598C>G (p.Pro2200Ala)
n.109C>G
c.6601C>G (p.Pro2201Ala)
n.4864C>G
c.7822C>G (p.Pro2608Ala)
c.7201C>G (p.Pro2401Ala)
c.7921C>G (p.Pro2641Ala)
c.8419C>G (p.Pro2807Ala)
c.6016C>G (p.Pro2006Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.237340494G=CA1337608468COL6A3c.1067C=
c.7804C= (p.Pro2602=)
c.425C=
n.689C=
c.8422C= (p.Pro2808=)
c.6598C= (p.Pro2200=)
n.109C=
c.6601C= (p.Pro2201=)
n.4864C=
c.7822C= (p.Pro2608=)
c.7201C= (p.Pro2401=)
c.7921C= (p.Pro2641=)
c.8419C= (p.Pro2807=)
c.6016C= (p.Pro2006=)
2g.237340494G>TCA351194584COL6A3c.1067C>A
c.7804C>A (p.Pro2602Thr)
c.425C>A
n.689C>A
c.8422C>A (p.Pro2808Thr)
c.6598C>A (p.Pro2200Thr)
n.109C>A
c.6601C>A (p.Pro2201Thr)
n.4864C>A
c.7822C>A (p.Pro2608Thr)
c.7201C>A (p.Pro2401Thr)
c.7921C>A (p.Pro2641Thr)
c.8419C>A (p.Pro2807Thr)
c.6016C>A (p.Pro2006Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.237340495C>ACA351194589COL6A3c.1066G>T
c.7803G>T (p.Glu2601Asp)
c.424G>T
n.688G>T
c.8421G>T (p.Glu2807Asp)
c.6597G>T (p.Glu2199Asp)
n.108G>T
c.6600G>T (p.Glu2200Asp)
n.4863G>T
c.7821G>T (p.Glu2607Asp)
c.7200G>T (p.Glu2400Asp)
c.7920G>T (p.Glu2640Asp)
c.8418G>T (p.Glu2806Asp)
c.6015G>T (p.Glu2005Asp)
2g.237340495C=CA1337608474COL6A3c.1066G=
c.7803G= (p.Glu2601=)
c.424G=
n.688G=
c.8421G= (p.Glu2807=)
c.6597G= (p.Glu2199=)
n.108G=
c.6600G= (p.Glu2200=)
n.4863G=
c.7821G= (p.Glu2607=)
c.7200G= (p.Glu2400=)
c.7920G= (p.Glu2640=)
c.8418G= (p.Glu2806=)
c.6015G= (p.Glu2005=)
2g.237340495C>GCA351194591COL6A3c.1066G>C
c.7803G>C (p.Glu2601Asp)
c.424G>C
n.688G>C
c.8421G>C (p.Glu2807Asp)
c.6597G>C (p.Glu2199Asp)
n.108G>C
c.6600G>C (p.Glu2200Asp)
n.4863G>C
c.7821G>C (p.Glu2607Asp)
c.7200G>C (p.Glu2400Asp)
c.7920G>C (p.Glu2640Asp)
c.8418G>C (p.Glu2806Asp)
c.6015G>C (p.Glu2005Asp)
2g.237340495C>TCA2187554COL6A3c.1066G>A
c.7803G>A (p.Glu2601=)
c.424G>A
n.688G>A
c.8421G>A (p.Glu2807=)
c.6597G>A (p.Glu2199=)
n.108G>A
c.6600G>A (p.Glu2200=)
n.4863G>A
c.7821G>A (p.Glu2607=)
c.7200G>A (p.Glu2400=)
c.7920G>A (p.Glu2640=)
c.8418G>A (p.Glu2806=)
c.6015G>A (p.Glu2005=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340496T>ACA351194600COL6A3c.1065A>T
c.7802A>T (p.Glu2601Val)
c.423A>T
n.687A>T
c.8420A>T (p.Glu2807Val)
c.6596A>T (p.Glu2199Val)
n.107A>T
c.6599A>T (p.Glu2200Val)
n.4862A>T
c.7820A>T (p.Glu2607Val)
c.7199A>T (p.Glu2400Val)
c.7919A>T (p.Glu2640Val)
c.8417A>T (p.Glu2806Val)
c.6014A>T (p.Glu2005Val)
2g.237340496T>CCA351194603COL6A3c.1065A>G
c.7802A>G (p.Glu2601Gly)
c.423A>G
n.687A>G
c.8420A>G (p.Glu2807Gly)
c.6596A>G (p.Glu2199Gly)
n.107A>G
c.6599A>G (p.Glu2200Gly)
n.4862A>G
c.7820A>G (p.Glu2607Gly)
c.7199A>G (p.Glu2400Gly)
c.7919A>G (p.Glu2640Gly)
c.8417A>G (p.Glu2806Gly)
c.6014A>G (p.Glu2005Gly)
2g.237340496T>GCA351194606COL6A3c.1065A>C
c.7802A>C (p.Glu2601Ala)
c.423A>C
n.687A>C
c.8420A>C (p.Glu2807Ala)
c.6596A>C (p.Glu2199Ala)
n.107A>C
c.6599A>C (p.Glu2200Ala)
n.4862A>C
c.7820A>C (p.Glu2607Ala)
c.7199A>C (p.Glu2400Ala)
c.7919A>C (p.Glu2640Ala)
c.8417A>C (p.Glu2806Ala)
c.6014A>C (p.Glu2005Ala)
2g.237340497C>ACA351194617COL6A3c.1064G>T
c.7801G>T (p.Glu2601Ter)
c.422G>T
n.686G>T
c.8419G>T (p.Glu2807Ter)
c.6595G>T (p.Glu2199Ter)
n.106G>T
c.6598G>T (p.Glu2200Ter)
n.4861G>T
c.7819G>T (p.Glu2607Ter)
c.7198G>T (p.Glu2400Ter)
c.7918G>T (p.Glu2640Ter)
c.8416G>T (p.Glu2806Ter)
c.6013G>T (p.Glu2005Ter)
2g.237340497C>GCA351194614COL6A3c.1064G>C
c.7801G>C (p.Glu2601Gln)
c.422G>C
n.686G>C
c.8419G>C (p.Glu2807Gln)
c.6595G>C (p.Glu2199Gln)
n.106G>C
c.6598G>C (p.Glu2200Gln)
n.4861G>C
c.7819G>C (p.Glu2607Gln)
c.7198G>C (p.Glu2400Gln)
c.7918G>C (p.Glu2640Gln)
c.8416G>C (p.Glu2806Gln)
c.6013G>C (p.Glu2005Gln)
2g.237340497C>TCA351194616COL6A3c.1064G>A
c.7801G>A (p.Glu2601Lys)
c.422G>A
n.686G>A
c.8419G>A (p.Glu2807Lys)
c.6595G>A (p.Glu2199Lys)
n.106G>A
c.6598G>A (p.Glu2200Lys)
n.4861G>A
c.7819G>A (p.Glu2607Lys)
c.7198G>A (p.Glu2400Lys)
c.7918G>A (p.Glu2640Lys)
c.8416G>A (p.Glu2806Lys)
c.6013G>A (p.Glu2005Lys)
 COSMIC
2g.237340498C>ACA351194618COL6A3c.1063G>T
c.7800G>T (p.Glu2600Asp)
c.421G>T
n.685G>T
c.8418G>T (p.Glu2806Asp)
c.6594G>T (p.Glu2198Asp)
n.105G>T
c.6597G>T (p.Glu2199Asp)
n.4860G>T
c.7818G>T (p.Glu2606Asp)
c.7197G>T (p.Glu2399Asp)
c.7917G>T (p.Glu2639Asp)
c.8415G>T (p.Glu2805Asp)
c.6012G>T (p.Glu2004Asp)
2g.237340498C>GCA351194619COL6A3c.1063G>C
c.7800G>C (p.Glu2600Asp)
c.421G>C
n.685G>C
c.8418G>C (p.Glu2806Asp)
c.6594G>C (p.Glu2198Asp)
n.105G>C
c.6597G>C (p.Glu2199Asp)
n.4860G>C
c.7818G>C (p.Glu2606Asp)
c.7197G>C (p.Glu2399Asp)
c.7917G>C (p.Glu2639Asp)
c.8415G>C (p.Glu2805Asp)
c.6012G>C (p.Glu2004Asp)
2g.237340498C>TCA431675112COL6A3c.1063G>A
c.7800G>A (p.Glu2600=)
c.421G>A
n.685G>A
c.8418G>A (p.Glu2806=)
c.6594G>A (p.Glu2198=)
n.105G>A
c.6597G>A (p.Glu2199=)
n.4860G>A
c.7818G>A (p.Glu2606=)
c.7197G>A (p.Glu2399=)
c.7917G>A (p.Glu2639=)
c.8415G>A (p.Glu2805=)
c.6012G>A (p.Glu2004=)
2g.237340499T>ACA351194620COL6A3c.1062A>T
c.7799A>T (p.Glu2600Val)
c.420A>T
n.684A>T
c.8417A>T (p.Glu2806Val)
c.6593A>T (p.Glu2198Val)
n.104A>T
c.6596A>T (p.Glu2199Val)
n.4859A>T
c.7817A>T (p.Glu2606Val)
c.7196A>T (p.Glu2399Val)
c.7916A>T (p.Glu2639Val)
c.8414A>T (p.Glu2805Val)
c.6011A>T (p.Glu2004Val)
2g.237340499T>CCA351194622COL6A3c.1062A>G
c.7799A>G (p.Glu2600Gly)
c.420A>G
n.684A>G
c.8417A>G (p.Glu2806Gly)
c.6593A>G (p.Glu2198Gly)
n.104A>G
c.6596A>G (p.Glu2199Gly)
n.4859A>G
c.7817A>G (p.Glu2606Gly)
c.7196A>G (p.Glu2399Gly)
c.7916A>G (p.Glu2639Gly)
c.8414A>G (p.Glu2805Gly)
c.6011A>G (p.Glu2004Gly)
2g.237340499T>GCA351194623COL6A3c.1062A>C
c.7799A>C (p.Glu2600Ala)
c.420A>C
n.684A>C
c.8417A>C (p.Glu2806Ala)
c.6593A>C (p.Glu2198Ala)
n.104A>C
c.6596A>C (p.Glu2199Ala)
n.4859A>C
c.7817A>C (p.Glu2606Ala)
c.7196A>C (p.Glu2399Ala)
c.7916A>C (p.Glu2639Ala)
c.8414A>C (p.Glu2805Ala)
c.6011A>C (p.Glu2004Ala)
2g.237340500C>ACA351194625COL6A3c.1061G>T
c.7798G>T (p.Glu2600Ter)
c.419G>T
n.683G>T
c.8416G>T (p.Glu2806Ter)
c.6592G>T (p.Glu2198Ter)
n.103G>T
c.6595G>T (p.Glu2199Ter)
n.4858G>T
c.7816G>T (p.Glu2606Ter)
c.7195G>T (p.Glu2399Ter)
c.7915G>T (p.Glu2639Ter)
c.8413G>T (p.Glu2805Ter)
c.6010G>T (p.Glu2004Ter)
2g.237340500C=CA1337608478COL6A3c.1061G=
c.7798G= (p.Glu2600=)
c.419G=
n.683G=
c.8416G= (p.Glu2806=)
c.6592G= (p.Glu2198=)
n.103G=
c.6595G= (p.Glu2199=)
n.4858G=
c.7816G= (p.Glu2606=)
c.7195G= (p.Glu2399=)
c.7915G= (p.Glu2639=)
c.8413G= (p.Glu2805=)
c.6010G= (p.Glu2004=)
2g.237340500C>GCA351194627COL6A3c.1061G>C
c.7798G>C (p.Glu2600Gln)
c.419G>C
n.683G>C
c.8416G>C (p.Glu2806Gln)
c.6592G>C (p.Glu2198Gln)
n.103G>C
c.6595G>C (p.Glu2199Gln)
n.4858G>C
c.7816G>C (p.Glu2606Gln)
c.7195G>C (p.Glu2399Gln)
c.7915G>C (p.Glu2639Gln)
c.8413G>C (p.Glu2805Gln)
c.6010G>C (p.Glu2004Gln)
2g.237340500C>TCA2187555COL6A3c.1061G>A
c.7798G>A (p.Glu2600Lys)
c.419G>A
n.683G>A
c.8416G>A (p.Glu2806Lys)
c.6592G>A (p.Glu2198Lys)
n.103G>A
c.6595G>A (p.Glu2199Lys)
n.4858G>A
c.7816G>A (p.Glu2606Lys)
c.7195G>A (p.Glu2399Lys)
c.7915G>A (p.Glu2639Lys)
c.8413G>A (p.Glu2805Lys)
c.6010G>A (p.Glu2004Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340501G>ACA244928COL6A3c.1060C>T
c.7797C>T (p.Asn2599=)
c.418C>T
n.682C>T
c.8415C>T (p.Asn2805=)
c.6591C>T (p.Asn2197=)
n.102C>T
c.6594C>T (p.Asn2198=)
n.4857C>T
c.7815C>T (p.Asn2605=)
c.7194C>T (p.Asn2398=)
c.7914C>T (p.Asn2638=)
c.8412C>T (p.Asn2804=)
c.6009C>T (p.Asn2003=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237340501G>CCA351194630COL6A3c.1060C>G
c.7797C>G (p.Asn2599Lys)
c.418C>G
n.682C>G
c.8415C>G (p.Asn2805Lys)
c.6591C>G (p.Asn2197Lys)
n.102C>G
c.6594C>G (p.Asn2198Lys)
n.4857C>G
c.7815C>G (p.Asn2605Lys)
c.7194C>G (p.Asn2398Lys)
c.7914C>G (p.Asn2638Lys)
c.8412C>G (p.Asn2804Lys)
c.6009C>G (p.Asn2003Lys)
2g.237340501G=CA1337608483COL6A3c.1060C=
c.7797C= (p.Asn2599=)
c.418C=
n.682C=
c.8415C= (p.Asn2805=)
c.6591C= (p.Asn2197=)
n.102C=
c.6594C= (p.Asn2198=)
n.4857C=
c.7815C= (p.Asn2605=)
c.7194C= (p.Asn2398=)
c.7914C= (p.Asn2638=)
c.8412C= (p.Asn2804=)
c.6009C= (p.Asn2003=)
2g.237340501G>TCA351194638COL6A3c.1060C>A
c.7797C>A (p.Asn2599Lys)
c.418C>A
n.682C>A
c.8415C>A (p.Asn2805Lys)
c.6591C>A (p.Asn2197Lys)
n.102C>A
c.6594C>A (p.Asn2198Lys)
n.4857C>A
c.7815C>A (p.Asn2605Lys)
c.7194C>A (p.Asn2398Lys)
c.7914C>A (p.Asn2638Lys)
c.8412C>A (p.Asn2804Lys)
c.6009C>A (p.Asn2003Lys)
2g.237340502T>ACA351194651COL6A3c.1059A>T
c.7796A>T (p.Asn2599Ile)
c.417A>T
n.681A>T
c.8414A>T (p.Asn2805Ile)
c.6590A>T (p.Asn2197Ile)
n.101A>T
c.6593A>T (p.Asn2198Ile)
n.4856A>T
c.7814A>T (p.Asn2605Ile)
c.7193A>T (p.Asn2398Ile)
c.7913A>T (p.Asn2638Ile)
c.8411A>T (p.Asn2804Ile)
c.6008A>T (p.Asn2003Ile)
 gnomAD v4
2g.237340502T>CCA2187556COL6A3c.1059A>G
c.7796A>G (p.Asn2599Ser)
c.417A>G
n.681A>G
c.8414A>G (p.Asn2805Ser)
c.6590A>G (p.Asn2197Ser)
n.101A>G
c.6593A>G (p.Asn2198Ser)
n.4856A>G
c.7814A>G (p.Asn2605Ser)
c.7193A>G (p.Asn2398Ser)
c.7913A>G (p.Asn2638Ser)
c.8411A>G (p.Asn2804Ser)
c.6008A>G (p.Asn2003Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340502T>GCA67835500COL6A3c.1059A>C
c.7796A>C (p.Asn2599Thr)
c.417A>C
n.681A>C
c.8414A>C (p.Asn2805Thr)
c.6590A>C (p.Asn2197Thr)
n.101A>C
c.6593A>C (p.Asn2198Thr)
n.4856A>C
c.7814A>C (p.Asn2605Thr)
c.7193A>C (p.Asn2398Thr)
c.7913A>C (p.Asn2638Thr)
c.8411A>C (p.Asn2804Thr)
c.6008A>C (p.Asn2003Thr)
 dbSNP
2g.237340502T=CA1337608487COL6A3c.1059A=
c.7796A= (p.Asn2599=)
c.417A=
n.681A=
c.8414A= (p.Asn2805=)
c.6590A= (p.Asn2197=)
n.101A=
c.6593A= (p.Asn2198=)
n.4856A=
c.7814A= (p.Asn2605=)
c.7193A= (p.Asn2398=)
c.7913A= (p.Asn2638=)
c.8411A= (p.Asn2804=)
c.6008A= (p.Asn2003=)
2g.237340503T>ACA351194655COL6A3c.1058A>T
c.7795A>T (p.Asn2599Tyr)
c.416A>T
n.680A>T
c.8413A>T (p.Asn2805Tyr)
c.6589A>T (p.Asn2197Tyr)
n.100A>T
c.6592A>T (p.Asn2198Tyr)
n.4855A>T
c.7813A>T (p.Asn2605Tyr)
c.7192A>T (p.Asn2398Tyr)
c.7912A>T (p.Asn2638Tyr)
c.8410A>T (p.Asn2804Tyr)
c.6007A>T (p.Asn2003Tyr)
2g.237340503T>CCA2187557COL6A3c.1058A>G
c.7795A>G (p.Asn2599Asp)
c.416A>G
n.680A>G
c.8413A>G (p.Asn2805Asp)
c.6589A>G (p.Asn2197Asp)
n.100A>G
c.6592A>G (p.Asn2198Asp)
n.4855A>G
c.7813A>G (p.Asn2605Asp)
c.7192A>G (p.Asn2398Asp)
c.7912A>G (p.Asn2638Asp)
c.8410A>G (p.Asn2804Asp)
c.6007A>G (p.Asn2003Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340503T>GCA351194659COL6A3c.1058A>C
c.7795A>C (p.Asn2599His)
c.416A>C
n.680A>C
c.8413A>C (p.Asn2805His)
c.6589A>C (p.Asn2197His)
n.100A>C
c.6592A>C (p.Asn2198His)
n.4855A>C
c.7813A>C (p.Asn2605His)
c.7192A>C (p.Asn2398His)
c.7912A>C (p.Asn2638His)
c.8410A>C (p.Asn2804His)
c.6007A>C (p.Asn2003His)
2g.237340503T=CA1337608490COL6A3c.1058A=
c.7795A= (p.Asn2599=)
c.416A=
n.680A=
c.8413A= (p.Asn2805=)
c.6589A= (p.Asn2197=)
n.100A=
c.6592A= (p.Asn2198=)
n.4855A=
c.7813A= (p.Asn2605=)
c.7192A= (p.Asn2398=)
c.7912A= (p.Asn2638=)
c.8410A= (p.Asn2804=)
c.6007A= (p.Asn2003=)
2g.237340504G>ACA431675113COL6A3c.1057C>T
c.7794C>T (p.Leu2598=)
c.415C>T
n.679C>T
c.8412C>T (p.Leu2804=)
c.6588C>T (p.Leu2196=)
n.99C>T
c.6591C>T (p.Leu2197=)
n.4854C>T
c.7812C>T (p.Leu2604=)
c.7191C>T (p.Leu2397=)
c.7911C>T (p.Leu2637=)
c.8409C>T (p.Leu2803=)
c.6006C>T (p.Leu2002=)
2g.237340504G>CCA431675114COL6A3c.1057C>G
c.7794C>G (p.Leu2598=)
c.415C>G
n.679C>G
c.8412C>G (p.Leu2804=)
c.6588C>G (p.Leu2196=)
n.99C>G
c.6591C>G (p.Leu2197=)
n.4854C>G
c.7812C>G (p.Leu2604=)
c.7191C>G (p.Leu2397=)
c.7911C>G (p.Leu2637=)
c.8409C>G (p.Leu2803=)
c.6006C>G (p.Leu2002=)
2g.237340504G>TCA431675115COL6A3c.1057C>A
c.7794C>A (p.Leu2598=)
c.415C>A
n.679C>A
c.8412C>A (p.Leu2804=)
c.6588C>A (p.Leu2196=)
n.99C>A
c.6591C>A (p.Leu2197=)
n.4854C>A
c.7812C>A (p.Leu2604=)
c.7191C>A (p.Leu2397=)
c.7911C>A (p.Leu2637=)
c.8409C>A (p.Leu2803=)
c.6006C>A (p.Leu2002=)
2g.237340505A=CA1337608495COL6A3c.1056T=
c.7793T= (p.Leu2598=)
c.414T=
n.678T=
c.8411T= (p.Leu2804=)
c.6587T= (p.Leu2196=)
n.98T=
c.6590T= (p.Leu2197=)
n.4853T=
c.7811T= (p.Leu2604=)
c.7190T= (p.Leu2397=)
c.7910T= (p.Leu2637=)
c.8408T= (p.Leu2803=)
c.6005T= (p.Leu2002=)
2g.237340505A>CCA351194664COL6A3c.1056T>G
c.7793T>G (p.Leu2598Arg)
c.414T>G
n.678T>G
c.8411T>G (p.Leu2804Arg)
c.6587T>G (p.Leu2196Arg)
n.98T>G
c.6590T>G (p.Leu2197Arg)
n.4853T>G
c.7811T>G (p.Leu2604Arg)
c.7190T>G (p.Leu2397Arg)
c.7910T>G (p.Leu2637Arg)
c.8408T>G (p.Leu2803Arg)
c.6005T>G (p.Leu2002Arg)
2g.237340505A>GCA351194666COL6A3c.1056T>C
c.7793T>C (p.Leu2598Pro)
c.414T>C
n.678T>C
c.8411T>C (p.Leu2804Pro)
c.6587T>C (p.Leu2196Pro)
n.98T>C
c.6590T>C (p.Leu2197Pro)
n.4853T>C
c.7811T>C (p.Leu2604Pro)
c.7190T>C (p.Leu2397Pro)
c.7910T>C (p.Leu2637Pro)
c.8408T>C (p.Leu2803Pro)
c.6005T>C (p.Leu2002Pro)
 ClinVar dbSNP
2g.237340505A>TCA351194667COL6A3c.1056T>A
c.7793T>A (p.Leu2598His)
c.414T>A
n.678T>A
c.8411T>A (p.Leu2804His)
c.6587T>A (p.Leu2196His)
n.98T>A
c.6590T>A (p.Leu2197His)
n.4853T>A
c.7811T>A (p.Leu2604His)
c.7190T>A (p.Leu2397His)
c.7910T>A (p.Leu2637His)
c.8408T>A (p.Leu2803His)
c.6005T>A (p.Leu2002His)
2g.237340506G>ACA351194672COL6A3c.1055C>T
c.7792C>T (p.Leu2598Phe)
c.413C>T
n.677C>T
c.8410C>T (p.Leu2804Phe)
c.6586C>T (p.Leu2196Phe)
n.97C>T
c.6589C>T (p.Leu2197Phe)
n.4852C>T
c.7810C>T (p.Leu2604Phe)
c.7189C>T (p.Leu2397Phe)
c.7909C>T (p.Leu2637Phe)
c.8407C>T (p.Leu2803Phe)
c.6004C>T (p.Leu2002Phe)
2g.237340506G>CCA351194670COL6A3c.1055C>G
c.7792C>G (p.Leu2598Val)
c.413C>G
n.677C>G
c.8410C>G (p.Leu2804Val)
c.6586C>G (p.Leu2196Val)
n.97C>G
c.6589C>G (p.Leu2197Val)
n.4852C>G
c.7810C>G (p.Leu2604Val)
c.7189C>G (p.Leu2397Val)
c.7909C>G (p.Leu2637Val)
c.8407C>G (p.Leu2803Val)
c.6004C>G (p.Leu2002Val)
2g.237340506G>TCA351194671COL6A3c.1055C>A
c.7792C>A (p.Leu2598Ile)
c.413C>A
n.677C>A
c.8410C>A (p.Leu2804Ile)
c.6586C>A (p.Leu2196Ile)
n.97C>A
c.6589C>A (p.Leu2197Ile)
n.4852C>A
c.7810C>A (p.Leu2604Ile)
c.7189C>A (p.Leu2397Ile)
c.7909C>A (p.Leu2637Ile)
c.8407C>A (p.Leu2803Ile)
c.6004C>A (p.Leu2002Ile)
2g.237340507C>ACA351194673COL6A3c.1054G>T
c.7791G>T (p.Glu2597Asp)
c.412G>T
n.676G>T
c.8409G>T (p.Glu2803Asp)
c.6585G>T (p.Glu2195Asp)
n.96G>T
c.6588G>T (p.Glu2196Asp)
n.4851G>T
c.7809G>T (p.Glu2603Asp)
c.7188G>T (p.Glu2396Asp)
c.7908G>T (p.Glu2636Asp)
c.8406G>T (p.Glu2802Asp)
c.6003G>T (p.Glu2001Asp)
2g.237340507C>GCA351194675COL6A3c.1054G>C
c.7791G>C (p.Glu2597Asp)
c.412G>C
n.676G>C
c.8409G>C (p.Glu2803Asp)
c.6585G>C (p.Glu2195Asp)
n.96G>C
c.6588G>C (p.Glu2196Asp)
n.4851G>C
c.7809G>C (p.Glu2603Asp)
c.7188G>C (p.Glu2396Asp)
c.7908G>C (p.Glu2636Asp)
c.8406G>C (p.Glu2802Asp)
c.6003G>C (p.Glu2001Asp)
 gnomAD v4
2g.237340507C>TCA431675116COL6A3c.1054G>A
c.7791G>A (p.Glu2597=)
c.412G>A
n.676G>A
c.8409G>A (p.Glu2803=)
c.6585G>A (p.Glu2195=)
n.96G>A
c.6588G>A (p.Glu2196=)
n.4851G>A
c.7809G>A (p.Glu2603=)
c.7188G>A (p.Glu2396=)
c.7908G>A (p.Glu2636=)
c.8406G>A (p.Glu2802=)
c.6003G>A (p.Glu2001=)
2g.237340508T>ACA351194677COL6A3c.1053A>T
c.7790A>T (p.Glu2597Val)
c.411A>T
n.675A>T
c.8408A>T (p.Glu2803Val)
c.6584A>T (p.Glu2195Val)
n.95A>T
c.6587A>T (p.Glu2196Val)
n.4850A>T
c.7808A>T (p.Glu2603Val)
c.7187A>T (p.Glu2396Val)
c.7907A>T (p.Glu2636Val)
c.8405A>T (p.Glu2802Val)
c.6002A>T (p.Glu2001Val)
2g.237340508T>CCA351194680COL6A3c.1053A>G
c.7790A>G (p.Glu2597Gly)
c.411A>G
n.675A>G
c.8408A>G (p.Glu2803Gly)
c.6584A>G (p.Glu2195Gly)
n.95A>G
c.6587A>G (p.Glu2196Gly)
n.4850A>G
c.7808A>G (p.Glu2603Gly)
c.7187A>G (p.Glu2396Gly)
c.7907A>G (p.Glu2636Gly)
c.8405A>G (p.Glu2802Gly)
c.6002A>G (p.Glu2001Gly)
2g.237340508T>GCA351194682COL6A3c.1053A>C
c.7790A>C (p.Glu2597Ala)
c.411A>C
n.675A>C
c.8408A>C (p.Glu2803Ala)
c.6584A>C (p.Glu2195Ala)
n.95A>C
c.6587A>C (p.Glu2196Ala)
n.4850A>C
c.7808A>C (p.Glu2603Ala)
c.7187A>C (p.Glu2396Ala)
c.7907A>C (p.Glu2636Ala)
c.8405A>C (p.Glu2802Ala)
c.6002A>C (p.Glu2001Ala)
2g.237340509C>ACA351194695COL6A3c.1052G>T
c.7789G>T (p.Glu2597Ter)
c.410G>T
n.674G>T
c.8407G>T (p.Glu2803Ter)
c.6583G>T (p.Glu2195Ter)
n.94G>T
c.6586G>T (p.Glu2196Ter)
n.4849G>T
c.7807G>T (p.Glu2603Ter)
c.7186G>T (p.Glu2396Ter)
c.7906G>T (p.Glu2636Ter)
c.8404G>T (p.Glu2802Ter)
c.6001G>T (p.Glu2001Ter)
2g.237340509C=CA1337608499COL6A3c.1052G=
c.7789G= (p.Glu2597=)
c.410G=
n.674G=
c.8407G= (p.Glu2803=)
c.6583G= (p.Glu2195=)
n.94G=
c.6586G= (p.Glu2196=)
n.4849G=
c.7807G= (p.Glu2603=)
c.7186G= (p.Glu2396=)
c.7906G= (p.Glu2636=)
c.8404G= (p.Glu2802=)
c.6001G= (p.Glu2001=)
2g.237340509C>GCA351194687COL6A3c.1052G>C
c.7789G>C (p.Glu2597Gln)
c.410G>C
n.674G>C
c.8407G>C (p.Glu2803Gln)
c.6583G>C (p.Glu2195Gln)
n.94G>C
c.6586G>C (p.Glu2196Gln)
n.4849G>C
c.7807G>C (p.Glu2603Gln)
c.7186G>C (p.Glu2396Gln)
c.7906G>C (p.Glu2636Gln)
c.8404G>C (p.Glu2802Gln)
c.6001G>C (p.Glu2001Gln)
2g.237340509C>TCA2187558COL6A3c.1052G>A
c.7789G>A (p.Glu2597Lys)
c.410G>A
n.674G>A
c.8407G>A (p.Glu2803Lys)
c.6583G>A (p.Glu2195Lys)
n.94G>A
c.6586G>A (p.Glu2196Lys)
n.4849G>A
c.7807G>A (p.Glu2603Lys)
c.7186G>A (p.Glu2396Lys)
c.7906G>A (p.Glu2636Lys)
c.8404G>A (p.Glu2802Lys)
c.6001G>A (p.Glu2001Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237340510G>ACA10606298COL6A3c.1051C>T
c.7788C>T (p.Thr2596=)
c.409C>T
n.673C>T
c.8406C>T (p.Thr2802=)
c.6582C>T (p.Thr2194=)
n.93C>T
c.6585C>T (p.Thr2195=)
n.4848C>T
c.7806C>T (p.Thr2602=)
c.7185C>T (p.Thr2395=)
c.7905C>T (p.Thr2635=)
c.8403C>T (p.Thr2801=)
c.6000C>T (p.Thr2000=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237340510G>CCA431675118COL6A3c.1051C>G
c.7788C>G (p.Thr2596=)
c.409C>G
n.673C>G
c.8406C>G (p.Thr2802=)
c.6582C>G (p.Thr2194=)
n.93C>G
c.6585C>G (p.Thr2195=)
n.4848C>G
c.7806C>G (p.Thr2602=)
c.7185C>G (p.Thr2395=)
c.7905C>G (p.Thr2635=)
c.8403C>G (p.Thr2801=)
c.6000C>G (p.Thr2000=)
2g.237340510G=CA1337608502COL6A3c.1051C=
c.7788C= (p.Thr2596=)
c.409C=
n.673C=
c.8406C= (p.Thr2802=)
c.6582C= (p.Thr2194=)
n.93C=
c.6585C= (p.Thr2195=)
n.4848C=
c.7806C= (p.Thr2602=)
c.7185C= (p.Thr2395=)
c.7905C= (p.Thr2635=)
c.8403C= (p.Thr2801=)
c.6000C= (p.Thr2000=)
2g.237340510G>TCA431675117COL6A3c.1051C>A
c.7788C>A (p.Thr2596=)
c.409C>A
n.673C>A
c.8406C>A (p.Thr2802=)
c.6582C>A (p.Thr2194=)
n.93C>A
c.6585C>A (p.Thr2195=)
n.4848C>A
c.7806C>A (p.Thr2602=)
c.7185C>A (p.Thr2395=)
c.7905C>A (p.Thr2635=)
c.8403C>A (p.Thr2801=)
c.6000C>A (p.Thr2000=)
2g.237340511G>ACA351194702COL6A3c.1050C>T
c.7787C>T (p.Thr2596Ile)
c.408C>T
n.672C>T
c.8405C>T (p.Thr2802Ile)
c.6581C>T (p.Thr2194Ile)
n.92C>T
c.6584C>T (p.Thr2195Ile)
n.4847C>T
c.7805C>T (p.Thr2602Ile)
c.7184C>T (p.Thr2395Ile)
c.7904C>T (p.Thr2635Ile)
c.8402C>T (p.Thr2801Ile)
c.5999C>T (p.Thr2000Ile)
 gnomAD v4
2g.237340511G>CCA351194704COL6A3c.1050C>G
c.7787C>G (p.Thr2596Ser)
c.408C>G
n.672C>G
c.8405C>G (p.Thr2802Ser)
c.6581C>G (p.Thr2194Ser)
n.92C>G
c.6584C>G (p.Thr2195Ser)
n.4847C>G
c.7805C>G (p.Thr2602Ser)
c.7184C>G (p.Thr2395Ser)
c.7904C>G (p.Thr2635Ser)
c.8402C>G (p.Thr2801Ser)
c.5999C>G (p.Thr2000Ser)
2g.237340511G>TCA351194715COL6A3c.1050C>A
c.7787C>A (p.Thr2596Asn)
c.408C>A
n.672C>A
c.8405C>A (p.Thr2802Asn)
c.6581C>A (p.Thr2194Asn)
n.92C>A
c.6584C>A (p.Thr2195Asn)
n.4847C>A
c.7805C>A (p.Thr2602Asn)
c.7184C>A (p.Thr2395Asn)
c.7904C>A (p.Thr2635Asn)
c.8402C>A (p.Thr2801Asn)
c.5999C>A (p.Thr2000Asn)
2g.237340512T>ACA351194719COL6A3c.1049A>T
c.7786A>T (p.Thr2596Ser)
c.407A>T
n.671A>T
c.8404A>T (p.Thr2802Ser)
c.6580A>T (p.Thr2194Ser)
n.91A>T
c.6583A>T (p.Thr2195Ser)
n.4846A>T
c.7804A>T (p.Thr2602Ser)
c.7183A>T (p.Thr2395Ser)
c.7903A>T (p.Thr2635Ser)
c.8401A>T (p.Thr2801Ser)
c.5998A>T (p.Thr2000Ser)
2g.237340512T>CCA351194722COL6A3c.1049A>G
c.7786A>G (p.Thr2596Ala)
c.407A>G
n.671A>G
c.8404A>G (p.Thr2802Ala)
c.6580A>G (p.Thr2194Ala)
n.91A>G
c.6583A>G (p.Thr2195Ala)
n.4846A>G
c.7804A>G (p.Thr2602Ala)
c.7183A>G (p.Thr2395Ala)
c.7903A>G (p.Thr2635Ala)
c.8401A>G (p.Thr2801Ala)
c.5998A>G (p.Thr2000Ala)
 gnomAD v4
2g.237340512T>GCA351194723COL6A3c.1049A>C
c.7786A>C (p.Thr2596Pro)
c.407A>C
n.671A>C
c.8404A>C (p.Thr2802Pro)
c.6580A>C (p.Thr2194Pro)
n.91A>C
c.6583A>C (p.Thr2195Pro)
n.4846A>C
c.7804A>C (p.Thr2602Pro)
c.7183A>C (p.Thr2395Pro)
c.7903A>C (p.Thr2635Pro)
c.8401A>C (p.Thr2801Pro)
c.5998A>C (p.Thr2000Pro)
 gnomAD v4
2g.237340513G>ACA431675119COL6A3c.1048C>T
c.7785C>T (p.Ser2595=)
c.406C>T
n.670C>T
c.8403C>T (p.Ser2801=)
c.6579C>T (p.Ser2193=)
n.90C>T
c.6582C>T (p.Ser2194=)
n.4845C>T
c.7803C>T (p.Ser2601=)
c.7182C>T (p.Ser2394=)
c.7902C>T (p.Ser2634=)
c.8400C>T (p.Ser2800=)
c.5997C>T (p.Ser1999=)
 gnomAD v4
2g.237340513G>CCA431675120COL6A3c.1048C>G
c.7785C>G (p.Ser2595=)
c.406C>G
n.670C>G
c.8403C>G (p.Ser2801=)
c.6579C>G (p.Ser2193=)
n.90C>G
c.6582C>G (p.Ser2194=)
n.4845C>G
c.7803C>G (p.Ser2601=)
c.7182C>G (p.Ser2394=)
c.7902C>G (p.Ser2634=)
c.8400C>G (p.Ser2800=)
c.5997C>G (p.Ser1999=)
 COSMIC
2g.237340513G>TCA431675121COL6A3c.1048C>A
c.7785C>A (p.Ser2595=)
c.406C>A
n.670C>A
c.8403C>A (p.Ser2801=)
c.6579C>A (p.Ser2193=)
n.90C>A
c.6582C>A (p.Ser2194=)
n.4845C>A
c.7803C>A (p.Ser2601=)
c.7182C>A (p.Ser2394=)
c.7902C>A (p.Ser2634=)
c.8400C>A (p.Ser2800=)
c.5997C>A (p.Ser1999=)
2g.237340514G>ACA351194725COL6A3c.1047C>T
c.7784C>T (p.Ser2595Phe)
c.405C>T
n.669C>T
c.8402C>T (p.Ser2801Phe)
c.6578C>T (p.Ser2193Phe)
n.89C>T
c.6581C>T (p.Ser2194Phe)
n.4844C>T
c.7802C>T (p.Ser2601Phe)
c.7181C>T (p.Ser2394Phe)
c.7901C>T (p.Ser2634Phe)
c.8399C>T (p.Ser2800Phe)
c.5996C>T (p.Ser1999Phe)
 gnomAD v4
2g.237340514G>CCA351194729COL6A3c.1047C>G
c.7784C>G (p.Ser2595Cys)
c.405C>G
n.669C>G
c.8402C>G (p.Ser2801Cys)
c.6578C>G (p.Ser2193Cys)
n.89C>G
c.6581C>G (p.Ser2194Cys)
n.4844C>G
c.7802C>G (p.Ser2601Cys)
c.7181C>G (p.Ser2394Cys)
c.7901C>G (p.Ser2634Cys)
c.8399C>G (p.Ser2800Cys)
c.5996C>G (p.Ser1999Cys)
2g.237340514G>TCA351194731COL6A3c.1047C>A
c.7784C>A (p.Ser2595Tyr)
c.405C>A
n.669C>A
c.8402C>A (p.Ser2801Tyr)
c.6578C>A (p.Ser2193Tyr)
n.89C>A
c.6581C>A (p.Ser2194Tyr)
n.4844C>A
c.7802C>A (p.Ser2601Tyr)
c.7181C>A (p.Ser2394Tyr)
c.7901C>A (p.Ser2634Tyr)
c.8399C>A (p.Ser2800Tyr)
c.5996C>A (p.Ser1999Tyr)
2g.237340515A>CCA351194735COL6A3c.1046T>G
c.7783T>G (p.Ser2595Ala)
c.404T>G
n.668T>G
c.8401T>G (p.Ser2801Ala)
c.6577T>G (p.Ser2193Ala)
n.88T>G
c.6580T>G (p.Ser2194Ala)
n.4843T>G
c.7801T>G (p.Ser2601Ala)
c.7180T>G (p.Ser2394Ala)
c.7900T>G (p.Ser2634Ala)
c.8398T>G (p.Ser2800Ala)
c.5995T>G (p.Ser1999Ala)
2g.237340515A>GCA351194738COL6A3c.1046T>C
c.7783T>C (p.Ser2595Pro)
c.404T>C
n.668T>C
c.8401T>C (p.Ser2801Pro)
c.6577T>C (p.Ser2193Pro)
n.88T>C
c.6580T>C (p.Ser2194Pro)
n.4843T>C
c.7801T>C (p.Ser2601Pro)
c.7180T>C (p.Ser2394Pro)
c.7900T>C (p.Ser2634Pro)
c.8398T>C (p.Ser2800Pro)
c.5995T>C (p.Ser1999Pro)
 COSMIC
2g.237340515A>TCA351194740COL6A3c.1046T>A
c.7783T>A (p.Ser2595Thr)
c.404T>A
n.668T>A
c.8401T>A (p.Ser2801Thr)
c.6577T>A (p.Ser2193Thr)
n.88T>A
c.6580T>A (p.Ser2194Thr)
n.4843T>A
c.7801T>A (p.Ser2601Thr)
c.7180T>A (p.Ser2394Thr)
c.7900T>A (p.Ser2634Thr)
c.8398T>A (p.Ser2800Thr)
c.5995T>A (p.Ser1999Thr)
2g.237340516C>ACA351194744COL6A3c.1045G>T
c.7782G>T (p.Lys2594Asn)
c.403G>T
n.667G>T
c.8400G>T (p.Lys2800Asn)
c.6576G>T (p.Lys2192Asn)
n.87G>T
c.6579G>T (p.Lys2193Asn)
n.4842G>T
c.7800G>T (p.Lys2600Asn)
c.7179G>T (p.Lys2393Asn)
c.7899G>T (p.Lys2633Asn)
c.8397G>T (p.Lys2799Asn)
c.5994G>T (p.Lys1998Asn)
2g.237340516C=CA1337608509COL6A3c.1045G=
c.7782G= (p.Lys2594=)
c.403G=
n.667G=
c.8400G= (p.Lys2800=)
c.6576G= (p.Lys2192=)
n.87G=
c.6579G= (p.Lys2193=)
n.4842G=
c.7800G= (p.Lys2600=)
c.7179G= (p.Lys2393=)
c.7899G= (p.Lys2633=)
c.8397G= (p.Lys2799=)
c.5994G= (p.Lys1998=)
2g.237340516C>GCA351194748COL6A3c.1045G>C
c.7782G>C (p.Lys2594Asn)
c.403G>C
n.667G>C
c.8400G>C (p.Lys2800Asn)
c.6576G>C (p.Lys2192Asn)
n.87G>C
c.6579G>C (p.Lys2193Asn)
n.4842G>C
c.7800G>C (p.Lys2600Asn)
c.7179G>C (p.Lys2393Asn)
c.7899G>C (p.Lys2633Asn)
c.8397G>C (p.Lys2799Asn)
c.5994G>C (p.Lys1998Asn)
2g.237340516C>TCA2187559COL6A3c.1045G>A
c.7782G>A (p.Lys2594=)
c.403G>A
n.667G>A
c.8400G>A (p.Lys2800=)
c.6576G>A (p.Lys2192=)
n.87G>A
c.6579G>A (p.Lys2193=)
n.4842G>A
c.7800G>A (p.Lys2600=)
c.7179G>A (p.Lys2393=)
c.7899G>A (p.Lys2633=)
c.8397G>A (p.Lys2799=)
c.5994G>A (p.Lys1998=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340517T>ACA351194752COL6A3c.1044A>T
c.7781A>T (p.Lys2594Met)
c.402A>T
n.666A>T
c.8399A>T (p.Lys2800Met)
c.6575A>T (p.Lys2192Met)
n.86A>T
c.6578A>T (p.Lys2193Met)
n.4841A>T
c.7799A>T (p.Lys2600Met)
c.7178A>T (p.Lys2393Met)
c.7898A>T (p.Lys2633Met)
c.8396A>T (p.Lys2799Met)
c.5993A>T (p.Lys1998Met)
2g.237340517T>CCA351194755COL6A3c.1044A>G
c.7781A>G (p.Lys2594Arg)
c.402A>G
n.666A>G
c.8399A>G (p.Lys2800Arg)
c.6575A>G (p.Lys2192Arg)
n.86A>G
c.6578A>G (p.Lys2193Arg)
n.4841A>G
c.7799A>G (p.Lys2600Arg)
c.7178A>G (p.Lys2393Arg)
c.7898A>G (p.Lys2633Arg)
c.8396A>G (p.Lys2799Arg)
c.5993A>G (p.Lys1998Arg)
 gnomAD v4
2g.237340517T>GCA351194757COL6A3c.1044A>C
c.7781A>C (p.Lys2594Thr)
c.402A>C
n.666A>C
c.8399A>C (p.Lys2800Thr)
c.6575A>C (p.Lys2192Thr)
n.86A>C
c.6578A>C (p.Lys2193Thr)
n.4841A>C
c.7799A>C (p.Lys2600Thr)
c.7178A>C (p.Lys2393Thr)
c.7898A>C (p.Lys2633Thr)
c.8396A>C (p.Lys2799Thr)
c.5993A>C (p.Lys1998Thr)
2g.237340518T>ACA351194762COL6A3c.1043A>T
c.7780A>T (p.Lys2594Ter)
c.401A>T
n.665A>T
c.8398A>T (p.Lys2800Ter)
c.6574A>T (p.Lys2192Ter)
n.85A>T
c.6577A>T (p.Lys2193Ter)
n.4840A>T
c.7798A>T (p.Lys2600Ter)
c.7177A>T (p.Lys2393Ter)
c.7897A>T (p.Lys2633Ter)
c.8395A>T (p.Lys2799Ter)
c.5992A>T (p.Lys1998Ter)
2g.237340518T>CCA351194766COL6A3c.1043A>G
c.7780A>G (p.Lys2594Glu)
c.401A>G
n.665A>G
c.8398A>G (p.Lys2800Glu)
c.6574A>G (p.Lys2192Glu)
n.85A>G
c.6577A>G (p.Lys2193Glu)
n.4840A>G
c.7798A>G (p.Lys2600Glu)
c.7177A>G (p.Lys2393Glu)
c.7897A>G (p.Lys2633Glu)
c.8395A>G (p.Lys2799Glu)
c.5992A>G (p.Lys1998Glu)
2g.237340518T>GCA351194769COL6A3c.1043A>C
c.7780A>C (p.Lys2594Gln)
c.401A>C
n.665A>C
c.8398A>C (p.Lys2800Gln)
c.6574A>C (p.Lys2192Gln)
n.85A>C
c.6577A>C (p.Lys2193Gln)
n.4840A>C
c.7798A>C (p.Lys2600Gln)
c.7177A>C (p.Lys2393Gln)
c.7897A>C (p.Lys2633Gln)
c.8395A>C (p.Lys2799Gln)
c.5992A>C (p.Lys1998Gln)
2g.237340519G>ACA431675124COL6A3c.1042C>T
c.7779C>T (p.Asp2593=)
c.400C>T
n.664C>T
c.8397C>T (p.Asp2799=)
c.6573C>T (p.Asp2191=)
n.84C>T
c.6576C>T (p.Asp2192=)
n.4839C>T
c.7797C>T (p.Asp2599=)
c.7176C>T (p.Asp2392=)
c.7896C>T (p.Asp2632=)
c.8394C>T (p.Asp2798=)
c.5991C>T (p.Asp1997=)
 ClinVar dbSNP
2g.237340519G>CCA351194773COL6A3c.1042C>G
c.7779C>G (p.Asp2593Glu)
c.400C>G
n.664C>G
c.8397C>G (p.Asp2799Glu)
c.6573C>G (p.Asp2191Glu)
n.84C>G
c.6576C>G (p.Asp2192Glu)
n.4839C>G
c.7797C>G (p.Asp2599Glu)
c.7176C>G (p.Asp2392Glu)
c.7896C>G (p.Asp2632Glu)
c.8394C>G (p.Asp2798Glu)
c.5991C>G (p.Asp1997Glu)
2g.237340519G=CA1337608517COL6A3c.1042C=
c.7779C= (p.Asp2593=)
c.400C=
n.664C=
c.8397C= (p.Asp2799=)
c.6573C= (p.Asp2191=)
n.84C=
c.6576C= (p.Asp2192=)
n.4839C=
c.7797C= (p.Asp2599=)
c.7176C= (p.Asp2392=)
c.7896C= (p.Asp2632=)
c.8394C= (p.Asp2798=)
c.5991C= (p.Asp1997=)
2g.237340519G>TCA351194775COL6A3c.1042C>A
c.7779C>A (p.Asp2593Glu)
c.400C>A
n.664C>A
c.8397C>A (p.Asp2799Glu)
c.6573C>A (p.Asp2191Glu)
n.84C>A
c.6576C>A (p.Asp2192Glu)
n.4839C>A
c.7797C>A (p.Asp2599Glu)
c.7176C>A (p.Asp2392Glu)
c.7896C>A (p.Asp2632Glu)
c.8394C>A (p.Asp2798Glu)
c.5991C>A (p.Asp1997Glu)
2g.237340520T>ACA351194778COL6A3c.1041A>T
c.7778A>T (p.Asp2593Val)
c.399A>T
n.663A>T
c.8396A>T (p.Asp2799Val)
c.6572A>T (p.Asp2191Val)
n.83A>T
c.6575A>T (p.Asp2192Val)
n.4838A>T
c.7796A>T (p.Asp2599Val)
c.7175A>T (p.Asp2392Val)
c.7895A>T (p.Asp2632Val)
c.8393A>T (p.Asp2798Val)
c.5990A>T (p.Asp1997Val)
2g.237340520T>CCA351194781COL6A3c.1041A>G
c.7778A>G (p.Asp2593Gly)
c.399A>G
n.663A>G
c.8396A>G (p.Asp2799Gly)
c.6572A>G (p.Asp2191Gly)
n.83A>G
c.6575A>G (p.Asp2192Gly)
n.4838A>G
c.7796A>G (p.Asp2599Gly)
c.7175A>G (p.Asp2392Gly)
c.7895A>G (p.Asp2632Gly)
c.8393A>G (p.Asp2798Gly)
c.5990A>G (p.Asp1997Gly)
 gnomAD v4
2g.237340520T>GCA351194782COL6A3c.1041A>C
c.7778A>C (p.Asp2593Ala)
c.399A>C
n.663A>C
c.8396A>C (p.Asp2799Ala)
c.6572A>C (p.Asp2191Ala)
n.83A>C
c.6575A>C (p.Asp2192Ala)
n.4838A>C
c.7796A>C (p.Asp2599Ala)
c.7175A>C (p.Asp2392Ala)
c.7895A>C (p.Asp2632Ala)
c.8393A>C (p.Asp2798Ala)
c.5990A>C (p.Asp1997Ala)
2g.237340521C>ACA351194789COL6A3c.1040G>T
c.7777G>T (p.Asp2593Tyr)
c.398G>T
n.662G>T
c.8395G>T (p.Asp2799Tyr)
c.6571G>T (p.Asp2191Tyr)
n.82G>T
c.6574G>T (p.Asp2192Tyr)
n.4837G>T
c.7795G>T (p.Asp2599Tyr)
c.7174G>T (p.Asp2392Tyr)
c.7894G>T (p.Asp2632Tyr)
c.8392G>T (p.Asp2798Tyr)
c.5989G>T (p.Asp1997Tyr)
2g.237340521C=CA1337608519COL6A3c.1040G=
c.7777G= (p.Asp2593=)
c.398G=
n.662G=
c.8395G= (p.Asp2799=)
c.6571G= (p.Asp2191=)
n.82G=
c.6574G= (p.Asp2192=)
n.4837G=
c.7795G= (p.Asp2599=)
c.7174G= (p.Asp2392=)
c.7894G= (p.Asp2632=)
c.8392G= (p.Asp2798=)
c.5989G= (p.Asp1997=)
2g.237340521C>GCA351194787COL6A3c.1040G>C
c.7777G>C (p.Asp2593His)
c.398G>C
n.662G>C
c.8395G>C (p.Asp2799His)
c.6571G>C (p.Asp2191His)
n.82G>C
c.6574G>C (p.Asp2192His)
n.4837G>C
c.7795G>C (p.Asp2599His)
c.7174G>C (p.Asp2392His)
c.7894G>C (p.Asp2632His)
c.8392G>C (p.Asp2798His)
c.5989G>C (p.Asp1997His)
2g.237340521C>TCA2187560COL6A3c.1040G>A
c.7777G>A (p.Asp2593Asn)
c.398G>A
n.662G>A
c.8395G>A (p.Asp2799Asn)
c.6571G>A (p.Asp2191Asn)
n.82G>A
c.6574G>A (p.Asp2192Asn)
n.4837G>A
c.7795G>A (p.Asp2599Asn)
c.7174G>A (p.Asp2392Asn)
c.7894G>A (p.Asp2632Asn)
c.8392G>A (p.Asp2798Asn)
c.5989G>A (p.Asp1997Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340522C>ACA431675125COL6A3c.1039G>T
c.7776G>T (p.Val2592=)
c.397G>T
n.661G>T
c.8394G>T (p.Val2798=)
c.6570G>T (p.Val2190=)
n.81G>T
c.6573G>T (p.Val2191=)
n.4836G>T
c.7794G>T (p.Val2598=)
c.7173G>T (p.Val2391=)
c.7893G>T (p.Val2631=)
c.8391G>T (p.Val2797=)
c.5988G>T (p.Val1996=)
 dbSNP gnomAD v4
2g.237340522C=CA1337608523COL6A3c.1039G=
c.7776G= (p.Val2592=)
c.397G=
n.661G=
c.8394G= (p.Val2798=)
c.6570G= (p.Val2190=)
n.81G=
c.6573G= (p.Val2191=)
n.4836G=
c.7794G= (p.Val2598=)
c.7173G= (p.Val2391=)
c.7893G= (p.Val2631=)
c.8391G= (p.Val2797=)
c.5988G= (p.Val1996=)
2g.237340522C>GCA2187561COL6A3c.1039G>C
c.7776G>C (p.Val2592=)
c.397G>C
n.661G>C
c.8394G>C (p.Val2798=)
c.6570G>C (p.Val2190=)
n.81G>C
c.6573G>C (p.Val2191=)
n.4836G>C
c.7794G>C (p.Val2598=)
c.7173G>C (p.Val2391=)
c.7893G>C (p.Val2631=)
c.8391G>C (p.Val2797=)
c.5988G>C (p.Val1996=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340522C>TCA431675126COL6A3c.1039G>A
c.7776G>A (p.Val2592=)
c.397G>A
n.661G>A
c.8394G>A (p.Val2798=)
c.6570G>A (p.Val2190=)
n.81G>A
c.6573G>A (p.Val2191=)
n.4836G>A
c.7794G>A (p.Val2598=)
c.7173G>A (p.Val2391=)
c.7893G>A (p.Val2631=)
c.8391G>A (p.Val2797=)
c.5988G>A (p.Val1996=)
 gnomAD v4
2g.237340523A=CA1337608526COL6A3c.1038T=
c.7775T= (p.Val2592=)
c.396T=
n.660T=
c.8393T= (p.Val2798=)
c.6569T= (p.Val2190=)
n.80T=
c.6572T= (p.Val2191=)
n.4835T=
c.7793T= (p.Val2598=)
c.7172T= (p.Val2391=)
c.7892T= (p.Val2631=)
c.8390T= (p.Val2797=)
c.5987T= (p.Val1996=)
2g.237340523A>CCA351194794COL6A3c.1038T>G
c.7775T>G (p.Val2592Gly)
c.396T>G
n.660T>G
c.8393T>G (p.Val2798Gly)
c.6569T>G (p.Val2190Gly)
n.80T>G
c.6572T>G (p.Val2191Gly)
n.4835T>G
c.7793T>G (p.Val2598Gly)
c.7172T>G (p.Val2391Gly)
c.7892T>G (p.Val2631Gly)
c.8390T>G (p.Val2797Gly)
c.5987T>G (p.Val1996Gly)
2g.237340523A>GCA2187562COL6A3c.1038T>C
c.7775T>C (p.Val2592Ala)
c.396T>C
n.660T>C
c.8393T>C (p.Val2798Ala)
c.6569T>C (p.Val2190Ala)
n.80T>C
c.6572T>C (p.Val2191Ala)
n.4835T>C
c.7793T>C (p.Val2598Ala)
c.7172T>C (p.Val2391Ala)
c.7892T>C (p.Val2631Ala)
c.8390T>C (p.Val2797Ala)
c.5987T>C (p.Val1996Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340523A>TCA351194795COL6A3c.1038T>A
c.7775T>A (p.Val2592Glu)
c.396T>A
n.660T>A
c.8393T>A (p.Val2798Glu)
c.6569T>A (p.Val2190Glu)
n.80T>A
c.6572T>A (p.Val2191Glu)
n.4835T>A
c.7793T>A (p.Val2598Glu)
c.7172T>A (p.Val2391Glu)
c.7892T>A (p.Val2631Glu)
c.8390T>A (p.Val2797Glu)
c.5987T>A (p.Val1996Glu)
2g.237340524C>ACA351194798COL6A3c.1037G>T
c.7774G>T (p.Val2592Leu)
c.395G>T
n.659G>T
c.8392G>T (p.Val2798Leu)
c.6568G>T (p.Val2190Leu)
n.79G>T
c.6571G>T (p.Val2191Leu)
n.4834G>T
c.7792G>T (p.Val2598Leu)
c.7171G>T (p.Val2391Leu)
c.7891G>T (p.Val2631Leu)
c.8389G>T (p.Val2797Leu)
c.5986G>T (p.Val1996Leu)
2g.237340524C>GCA351194800COL6A3c.1037G>C
c.7774G>C (p.Val2592Leu)
c.395G>C
n.659G>C
c.8392G>C (p.Val2798Leu)
c.6568G>C (p.Val2190Leu)
n.79G>C
c.6571G>C (p.Val2191Leu)
n.4834G>C
c.7792G>C (p.Val2598Leu)
c.7171G>C (p.Val2391Leu)
c.7891G>C (p.Val2631Leu)
c.8389G>C (p.Val2797Leu)
c.5986G>C (p.Val1996Leu)
2g.237340524C>TCA351194803COL6A3c.1037G>A
c.7774G>A (p.Val2592Met)
c.395G>A
n.659G>A
c.8392G>A (p.Val2798Met)
c.6568G>A (p.Val2190Met)
n.79G>A
c.6571G>A (p.Val2191Met)
n.4834G>A
c.7792G>A (p.Val2598Met)
c.7171G>A (p.Val2391Met)
c.7891G>A (p.Val2631Met)
c.8389G>A (p.Val2797Met)
c.5986G>A (p.Val1996Met)
2g.237340525T>ACA351194806COL6A3c.1036A>T
c.7773A>T (p.Leu2591Phe)
c.394A>T
n.658A>T
c.8391A>T (p.Leu2797Phe)
c.6567A>T (p.Leu2189Phe)
n.78A>T
c.6570A>T (p.Leu2190Phe)
n.4833A>T
c.7791A>T (p.Leu2597Phe)
c.7170A>T (p.Leu2390Phe)
c.7890A>T (p.Leu2630Phe)
c.8388A>T (p.Leu2796Phe)
c.5985A>T (p.Leu1995Phe)
2g.237340525T>CCA431675129COL6A3c.1036A>G
c.7773A>G (p.Leu2591=)
c.394A>G
n.658A>G
c.8391A>G (p.Leu2797=)
c.6567A>G (p.Leu2189=)
n.78A>G
c.6570A>G (p.Leu2190=)
n.4833A>G
c.7791A>G (p.Leu2597=)
c.7170A>G (p.Leu2390=)
c.7890A>G (p.Leu2630=)
c.8388A>G (p.Leu2796=)
c.5985A>G (p.Leu1995=)
 dbSNP gnomAD v4
2g.237340525T>GCA351194807COL6A3c.1036A>C
c.7773A>C (p.Leu2591Phe)
c.394A>C
n.658A>C
c.8391A>C (p.Leu2797Phe)
c.6567A>C (p.Leu2189Phe)
n.78A>C
c.6570A>C (p.Leu2190Phe)
n.4833A>C
c.7791A>C (p.Leu2597Phe)
c.7170A>C (p.Leu2390Phe)
c.7890A>C (p.Leu2630Phe)
c.8388A>C (p.Leu2796Phe)
c.5985A>C (p.Leu1995Phe)
2g.237340525T=CA1337608531COL6A3c.1036A=
c.7773A= (p.Leu2591=)
c.394A=
n.658A=
c.8391A= (p.Leu2797=)
c.6567A= (p.Leu2189=)
n.78A=
c.6570A= (p.Leu2190=)
n.4833A=
c.7791A= (p.Leu2597=)
c.7170A= (p.Leu2390=)
c.7890A= (p.Leu2630=)
c.8388A= (p.Leu2796=)
c.5985A= (p.Leu1995=)
2g.237340526A=CA1337608533COL6A3c.1035T=
c.7772T= (p.Leu2591=)
c.393T=
n.657T=
c.8390T= (p.Leu2797=)
c.6566T= (p.Leu2189=)
n.77T=
c.6569T= (p.Leu2190=)
n.4832T=
c.7790T= (p.Leu2597=)
c.7169T= (p.Leu2390=)
c.7889T= (p.Leu2630=)
c.8387T= (p.Leu2796=)
c.5984T= (p.Leu1995=)
2g.237340526A>CCA351194810COL6A3c.1035T>G
c.7772T>G (p.Leu2591Ter)
c.393T>G
n.657T>G
c.8390T>G (p.Leu2797Ter)
c.6566T>G (p.Leu2189Ter)
n.77T>G
c.6569T>G (p.Leu2190Ter)
n.4832T>G
c.7790T>G (p.Leu2597Ter)
c.7169T>G (p.Leu2390Ter)
c.7889T>G (p.Leu2630Ter)
c.8387T>G (p.Leu2796Ter)
c.5984T>G (p.Leu1995Ter)
2g.237340526A>GCA351194817COL6A3c.1035T>C
c.7772T>C (p.Leu2591Ser)
c.393T>C
n.657T>C
c.8390T>C (p.Leu2797Ser)
c.6566T>C (p.Leu2189Ser)
n.77T>C
c.6569T>C (p.Leu2190Ser)
n.4832T>C
c.7790T>C (p.Leu2597Ser)
c.7169T>C (p.Leu2390Ser)
c.7889T>C (p.Leu2630Ser)
c.8387T>C (p.Leu2796Ser)
c.5984T>C (p.Leu1995Ser)
 dbSNP
2g.237340526A>TCA351194818COL6A3c.1035T>A
c.7772T>A (p.Leu2591Ter)
c.393T>A
n.657T>A
c.8390T>A (p.Leu2797Ter)
c.6566T>A (p.Leu2189Ter)
n.77T>A
c.6569T>A (p.Leu2190Ter)
n.4832T>A
c.7790T>A (p.Leu2597Ter)
c.7169T>A (p.Leu2390Ter)
c.7889T>A (p.Leu2630Ter)
c.8387T>A (p.Leu2796Ter)
c.5984T>A (p.Leu1995Ter)
2g.237340527A=CA1337608537COL6A3c.1034T=
c.7771T= (p.Leu2591=)
c.392T=
n.656T=
c.8389T= (p.Leu2797=)
c.6565T= (p.Leu2189=)
n.76T=
c.6568T= (p.Leu2190=)
n.4831T=
c.7789T= (p.Leu2597=)
c.7168T= (p.Leu2390=)
c.7888T= (p.Leu2630=)
c.8386T= (p.Leu2796=)
c.5983T= (p.Leu1995=)
2g.237340527A>CCA351194825COL6A3c.1034T>G
c.7771T>G (p.Leu2591Val)
c.392T>G
n.656T>G
c.8389T>G (p.Leu2797Val)
c.6565T>G (p.Leu2189Val)
n.76T>G
c.6568T>G (p.Leu2190Val)
n.4831T>G
c.7789T>G (p.Leu2597Val)
c.7168T>G (p.Leu2390Val)
c.7888T>G (p.Leu2630Val)
c.8386T>G (p.Leu2796Val)
c.5983T>G (p.Leu1995Val)
2g.237340527A>GCA2187563COL6A3c.1034T>C
c.7771T>C (p.Leu2591=)
c.392T>C
n.656T>C
c.8389T>C (p.Leu2797=)
c.6565T>C (p.Leu2189=)
n.76T>C
c.6568T>C (p.Leu2190=)
n.4831T>C
c.7789T>C (p.Leu2597=)
c.7168T>C (p.Leu2390=)
c.7888T>C (p.Leu2630=)
c.8386T>C (p.Leu2796=)
c.5983T>C (p.Leu1995=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340527A>TCA351194821COL6A3c.1034T>A
c.7771T>A (p.Leu2591Ile)
c.392T>A
n.656T>A
c.8389T>A (p.Leu2797Ile)
c.6565T>A (p.Leu2189Ile)
n.76T>A
c.6568T>A (p.Leu2190Ile)
n.4831T>A
c.7789T>A (p.Leu2597Ile)
c.7168T>A (p.Leu2390Ile)
c.7888T>A (p.Leu2630Ile)
c.8386T>A (p.Leu2796Ile)
c.5983T>A (p.Leu1995Ile)
2g.237340528T>ACA351194826COL6A3c.1033A>T
c.7770A>T (p.Lys2590Asn)
c.391A>T
n.655A>T
c.8388A>T (p.Lys2796Asn)
c.6564A>T (p.Lys2188Asn)
n.75A>T
c.6567A>T (p.Lys2189Asn)
n.4830A>T
c.7788A>T (p.Lys2596Asn)
c.7167A>T (p.Lys2389Asn)
c.7887A>T (p.Lys2629Asn)
c.8385A>T (p.Lys2795Asn)
c.5982A>T (p.Lys1994Asn)
2g.237340528T>CCA431675131COL6A3c.1033A>G
c.7770A>G (p.Lys2590=)
c.391A>G
n.655A>G
c.8388A>G (p.Lys2796=)
c.6564A>G (p.Lys2188=)
n.75A>G
c.6567A>G (p.Lys2189=)
n.4830A>G
c.7788A>G (p.Lys2596=)
c.7167A>G (p.Lys2389=)
c.7887A>G (p.Lys2629=)
c.8385A>G (p.Lys2795=)
c.5982A>G (p.Lys1994=)
2g.237340528T>GCA351194829COL6A3c.1033A>C
c.7770A>C (p.Lys2590Asn)
c.391A>C
n.655A>C
c.8388A>C (p.Lys2796Asn)
c.6564A>C (p.Lys2188Asn)
n.75A>C
c.6567A>C (p.Lys2189Asn)
n.4830A>C
c.7788A>C (p.Lys2596Asn)
c.7167A>C (p.Lys2389Asn)
c.7887A>C (p.Lys2629Asn)
c.8385A>C (p.Lys2795Asn)
c.5982A>C (p.Lys1994Asn)
2g.237340529T>ACA351194836COL6A3c.1032A>T
c.7769A>T (p.Lys2590Ile)
c.390A>T
n.654A>T
c.8387A>T (p.Lys2796Ile)
c.6563A>T (p.Lys2188Ile)
n.74A>T
c.6566A>T (p.Lys2189Ile)
n.4829A>T
c.7787A>T (p.Lys2596Ile)
c.7166A>T (p.Lys2389Ile)
c.7886A>T (p.Lys2629Ile)
c.8384A>T (p.Lys2795Ile)
c.5981A>T (p.Lys1994Ile)
2g.237340529T>CCA351194840COL6A3c.1032A>G
c.7769A>G (p.Lys2590Arg)
c.390A>G
n.654A>G
c.8387A>G (p.Lys2796Arg)
c.6563A>G (p.Lys2188Arg)
n.74A>G
c.6566A>G (p.Lys2189Arg)
n.4829A>G
c.7787A>G (p.Lys2596Arg)
c.7166A>G (p.Lys2389Arg)
c.7886A>G (p.Lys2629Arg)
c.8384A>G (p.Lys2795Arg)
c.5981A>G (p.Lys1994Arg)
2g.237340529T>GCA351194838COL6A3c.1032A>C
c.7769A>C (p.Lys2590Thr)
c.390A>C
n.654A>C
c.8387A>C (p.Lys2796Thr)
c.6563A>C (p.Lys2188Thr)
n.74A>C
c.6566A>C (p.Lys2189Thr)
n.4829A>C
c.7787A>C (p.Lys2596Thr)
c.7166A>C (p.Lys2389Thr)
c.7886A>C (p.Lys2629Thr)
c.8384A>C (p.Lys2795Thr)
c.5981A>C (p.Lys1994Thr)
2g.237340530T>ACA351194844COL6A3c.1031A>T
c.7768A>T (p.Lys2590Ter)
c.389A>T
n.653A>T
c.8386A>T (p.Lys2796Ter)
c.6562A>T (p.Lys2188Ter)
n.73A>T
c.6565A>T (p.Lys2189Ter)
n.4828A>T
c.7786A>T (p.Lys2596Ter)
c.7165A>T (p.Lys2389Ter)
c.7885A>T (p.Lys2629Ter)
c.8383A>T (p.Lys2795Ter)
c.5980A>T (p.Lys1994Ter)
2g.237340530T>CCA351194848COL6A3c.1031A>G
c.7768A>G (p.Lys2590Glu)
c.389A>G
n.653A>G
c.8386A>G (p.Lys2796Glu)
c.6562A>G (p.Lys2188Glu)
n.73A>G
c.6565A>G (p.Lys2189Glu)
n.4828A>G
c.7786A>G (p.Lys2596Glu)
c.7165A>G (p.Lys2389Glu)
c.7885A>G (p.Lys2629Glu)
c.8383A>G (p.Lys2795Glu)
c.5980A>G (p.Lys1994Glu)
 ClinVar dbSNP
2g.237340530T>GCA351194850COL6A3c.1031A>C
c.7768A>C (p.Lys2590Gln)
c.389A>C
n.653A>C
c.8386A>C (p.Lys2796Gln)
c.6562A>C (p.Lys2188Gln)
n.73A>C
c.6565A>C (p.Lys2189Gln)
n.4828A>C
c.7786A>C (p.Lys2596Gln)
c.7165A>C (p.Lys2389Gln)
c.7885A>C (p.Lys2629Gln)
c.8383A>C (p.Lys2795Gln)
c.5980A>C (p.Lys1994Gln)
2g.237340531G>ACA2187564COL6A3c.1030C>T
c.7767C>T (p.Phe2589=)
c.388C>T
n.652C>T
c.8385C>T (p.Phe2795=)
c.6561C>T (p.Phe2187=)
n.72C>T
c.6564C>T (p.Phe2188=)
n.4827C>T
c.7785C>T (p.Phe2595=)
c.7164C>T (p.Phe2388=)
c.7884C>T (p.Phe2628=)
c.8382C>T (p.Phe2794=)
c.5979C>T (p.Phe1993=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340531G>CCA351194856COL6A3c.1030C>G
c.7767C>G (p.Phe2589Leu)
c.388C>G
n.652C>G
c.8385C>G (p.Phe2795Leu)
c.6561C>G (p.Phe2187Leu)
n.72C>G
c.6564C>G (p.Phe2188Leu)
n.4827C>G
c.7785C>G (p.Phe2595Leu)
c.7164C>G (p.Phe2388Leu)
c.7884C>G (p.Phe2628Leu)
c.8382C>G (p.Phe2794Leu)
c.5979C>G (p.Phe1993Leu)
2g.237340531G=CA1337608546COL6A3c.1030C=
c.7767C= (p.Phe2589=)
c.388C=
n.652C=
c.8385C= (p.Phe2795=)
c.6561C= (p.Phe2187=)
n.72C=
c.6564C= (p.Phe2188=)
n.4827C=
c.7785C= (p.Phe2595=)
c.7164C= (p.Phe2388=)
c.7884C= (p.Phe2628=)
c.8382C= (p.Phe2794=)
c.5979C= (p.Phe1993=)
2g.237340531G>TCA351194858COL6A3c.1030C>A
c.7767C>A (p.Phe2589Leu)
c.388C>A
n.652C>A
c.8385C>A (p.Phe2795Leu)
c.6561C>A (p.Phe2187Leu)
n.72C>A
c.6564C>A (p.Phe2188Leu)
n.4827C>A
c.7785C>A (p.Phe2595Leu)
c.7164C>A (p.Phe2388Leu)
c.7884C>A (p.Phe2628Leu)
c.8382C>A (p.Phe2794Leu)
c.5979C>A (p.Phe1993Leu)
2g.237340532A>CCA351194860COL6A3c.1029T>G
c.7766T>G (p.Phe2589Cys)
c.387T>G
n.651T>G
c.8384T>G (p.Phe2795Cys)
c.6560T>G (p.Phe2187Cys)
n.71T>G
c.6563T>G (p.Phe2188Cys)
n.4826T>G
c.7784T>G (p.Phe2595Cys)
c.7163T>G (p.Phe2388Cys)
c.7883T>G (p.Phe2628Cys)
c.8381T>G (p.Phe2794Cys)
c.5978T>G (p.Phe1993Cys)
2g.237340532A>GCA351194863COL6A3c.1029T>C
c.7766T>C (p.Phe2589Ser)
c.387T>C
n.651T>C
c.8384T>C (p.Phe2795Ser)
c.6560T>C (p.Phe2187Ser)
n.71T>C
c.6563T>C (p.Phe2188Ser)
n.4826T>C
c.7784T>C (p.Phe2595Ser)
c.7163T>C (p.Phe2388Ser)
c.7883T>C (p.Phe2628Ser)
c.8381T>C (p.Phe2794Ser)
c.5978T>C (p.Phe1993Ser)
 ClinVar
2g.237340532A>TCA351194867COL6A3c.1029T>A
c.7766T>A (p.Phe2589Tyr)
c.387T>A
n.651T>A
c.8384T>A (p.Phe2795Tyr)
c.6560T>A (p.Phe2187Tyr)
n.71T>A
c.6563T>A (p.Phe2188Tyr)
n.4826T>A
c.7784T>A (p.Phe2595Tyr)
c.7163T>A (p.Phe2388Tyr)
c.7883T>A (p.Phe2628Tyr)
c.8381T>A (p.Phe2794Tyr)
c.5978T>A (p.Phe1993Tyr)
2g.237340533A>CCA351194870COL6A3c.1028T>G
c.7765T>G (p.Phe2589Val)
c.386T>G
n.650T>G
c.8383T>G (p.Phe2795Val)
c.6559T>G (p.Phe2187Val)
n.70T>G
c.6562T>G (p.Phe2188Val)
n.4825T>G
c.7783T>G (p.Phe2595Val)
c.7162T>G (p.Phe2388Val)
c.7882T>G (p.Phe2628Val)
c.8380T>G (p.Phe2794Val)
c.5977T>G (p.Phe1993Val)
2g.237340533A>GCA351194873COL6A3c.1028T>C
c.7765T>C (p.Phe2589Leu)
c.386T>C
n.650T>C
c.8383T>C (p.Phe2795Leu)
c.6559T>C (p.Phe2187Leu)
n.70T>C
c.6562T>C (p.Phe2188Leu)
n.4825T>C
c.7783T>C (p.Phe2595Leu)
c.7162T>C (p.Phe2388Leu)
c.7882T>C (p.Phe2628Leu)
c.8380T>C (p.Phe2794Leu)
c.5977T>C (p.Phe1993Leu)
2g.237340533A>TCA351194876COL6A3c.1028T>A
c.7765T>A (p.Phe2589Ile)
c.386T>A
n.650T>A
c.8383T>A (p.Phe2795Ile)
c.6559T>A (p.Phe2187Ile)
n.70T>A
c.6562T>A (p.Phe2188Ile)
n.4825T>A
c.7783T>A (p.Phe2595Ile)
c.7162T>A (p.Phe2388Ile)
c.7882T>A (p.Phe2628Ile)
c.8380T>A (p.Phe2794Ile)
c.5977T>A (p.Phe1993Ile)
2g.237340534G>ACA431675132COL6A3c.1027C>T
c.7764C>T (p.Phe2588=)
c.385C>T
n.649C>T
c.8382C>T (p.Phe2794=)
c.6558C>T (p.Phe2186=)
n.69C>T
c.6561C>T (p.Phe2187=)
n.4824C>T
c.7782C>T (p.Phe2594=)
c.7161C>T (p.Phe2387=)
c.7881C>T (p.Phe2627=)
c.8379C>T (p.Phe2793=)
c.5976C>T (p.Phe1992=)
2g.237340534G>CCA351194878COL6A3c.1027C>G
c.7764C>G (p.Phe2588Leu)
c.385C>G
n.649C>G
c.8382C>G (p.Phe2794Leu)
c.6558C>G (p.Phe2186Leu)
n.69C>G
c.6561C>G (p.Phe2187Leu)
n.4824C>G
c.7782C>G (p.Phe2594Leu)
c.7161C>G (p.Phe2387Leu)
c.7881C>G (p.Phe2627Leu)
c.8379C>G (p.Phe2793Leu)
c.5976C>G (p.Phe1992Leu)
2g.237340534G>TCA351194879COL6A3c.1027C>A
c.7764C>A (p.Phe2588Leu)
c.385C>A
n.649C>A
c.8382C>A (p.Phe2794Leu)
c.6558C>A (p.Phe2186Leu)
n.69C>A
c.6561C>A (p.Phe2187Leu)
n.4824C>A
c.7782C>A (p.Phe2594Leu)
c.7161C>A (p.Phe2387Leu)
c.7881C>A (p.Phe2627Leu)
c.8379C>A (p.Phe2793Leu)
c.5976C>A (p.Phe1992Leu)
2g.237340535A>CCA351194882COL6A3c.1026T>G
c.7763T>G (p.Phe2588Cys)
c.384T>G
n.648T>G
c.8381T>G (p.Phe2794Cys)
c.6557T>G (p.Phe2186Cys)
n.68T>G
c.6560T>G (p.Phe2187Cys)
n.4823T>G
c.7781T>G (p.Phe2594Cys)
c.7160T>G (p.Phe2387Cys)
c.7880T>G (p.Phe2627Cys)
c.8378T>G (p.Phe2793Cys)
c.5975T>G (p.Phe1992Cys)
2g.237340535A>GCA351194885COL6A3c.1026T>C
c.7763T>C (p.Phe2588Ser)
c.384T>C
n.648T>C
c.8381T>C (p.Phe2794Ser)
c.6557T>C (p.Phe2186Ser)
n.68T>C
c.6560T>C (p.Phe2187Ser)
n.4823T>C
c.7781T>C (p.Phe2594Ser)
c.7160T>C (p.Phe2387Ser)
c.7880T>C (p.Phe2627Ser)
c.8378T>C (p.Phe2793Ser)
c.5975T>C (p.Phe1992Ser)
2g.237340535A>TCA351194887COL6A3c.1026T>A
c.7763T>A (p.Phe2588Tyr)
c.384T>A
n.648T>A
c.8381T>A (p.Phe2794Tyr)
c.6557T>A (p.Phe2186Tyr)
n.68T>A
c.6560T>A (p.Phe2187Tyr)
n.4823T>A
c.7781T>A (p.Phe2594Tyr)
c.7160T>A (p.Phe2387Tyr)
c.7880T>A (p.Phe2627Tyr)
c.8378T>A (p.Phe2793Tyr)
c.5975T>A (p.Phe1992Tyr)
2g.237340536A=CA1337608552COL6A3c.1025T=
c.7762T= (p.Phe2588=)
c.383T=
n.647T=
c.8380T= (p.Phe2794=)
c.6556T= (p.Phe2186=)
n.67T=
c.6559T= (p.Phe2187=)
n.4822T=
c.7780T= (p.Phe2594=)
c.7159T= (p.Phe2387=)
c.7879T= (p.Phe2627=)
c.8377T= (p.Phe2793=)
c.5974T= (p.Phe1992=)
2g.237340536A>CCA2187565COL6A3c.1025T>G
c.7762T>G (p.Phe2588Val)
c.383T>G
n.647T>G
c.8380T>G (p.Phe2794Val)
c.6556T>G (p.Phe2186Val)
n.67T>G
c.6559T>G (p.Phe2187Val)
n.4822T>G
c.7780T>G (p.Phe2594Val)
c.7159T>G (p.Phe2387Val)
c.7879T>G (p.Phe2627Val)
c.8377T>G (p.Phe2793Val)
c.5974T>G (p.Phe1992Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340536A>GCA351194896COL6A3c.1025T>C
c.7762T>C (p.Phe2588Leu)
c.383T>C
n.647T>C
c.8380T>C (p.Phe2794Leu)
c.6556T>C (p.Phe2186Leu)
n.67T>C
c.6559T>C (p.Phe2187Leu)
n.4822T>C
c.7780T>C (p.Phe2594Leu)
c.7159T>C (p.Phe2387Leu)
c.7879T>C (p.Phe2627Leu)
c.8377T>C (p.Phe2793Leu)
c.5974T>C (p.Phe1992Leu)
2g.237340536A>TCA351194899COL6A3c.1025T>A
c.7762T>A (p.Phe2588Ile)
c.383T>A
n.647T>A
c.8380T>A (p.Phe2794Ile)
c.6556T>A (p.Phe2186Ile)
n.67T>A
c.6559T>A (p.Phe2187Ile)
n.4822T>A
c.7780T>A (p.Phe2594Ile)
c.7159T>A (p.Phe2387Ile)
c.7879T>A (p.Phe2627Ile)
c.8377T>A (p.Phe2793Ile)
c.5974T>A (p.Phe1992Ile)
2g.237340536_237340539delinsAGACCA1337608556COL6A3c.1022_1025delinsGTCT
c.7759_7762delinsGTCT (p.Val2587=)
c.380_383delinsGTCT
n.644_647delinsGTCT
c.8377_8380delinsGTCT (p.Val2793=)
c.6553_6556delinsGTCT (p.Val2185=)
n.64_67delinsGTCT
c.6556_6559delinsGTCT (p.Val2186=)
n.4819_4822delinsGTCT
c.7777_7780delinsGTCT (p.Val2593=)
c.7156_7159delinsGTCT (p.Val2386=)
c.7876_7879delinsGTCT (p.Val2626=)
c.8374_8377delinsGTCT (p.Val2792=)
c.5971_5974delinsGTCT (p.Val1991=)
2g.237340537G>ACA431675135COL6A3c.1024C>T
c.7761C>T (p.Val2587=)
c.382C>T
n.646C>T
c.8379C>T (p.Val2793=)
c.6555C>T (p.Val2185=)
n.66C>T
c.6558C>T (p.Val2186=)
n.4821C>T
c.7779C>T (p.Val2593=)
c.7158C>T (p.Val2386=)
c.7878C>T (p.Val2626=)
c.8376C>T (p.Val2792=)
c.5973C>T (p.Val1991=)
2g.237340537G>CCA431675133COL6A3c.1024C>G
c.7761C>G (p.Val2587=)
c.382C>G
n.646C>G
c.8379C>G (p.Val2793=)
c.6555C>G (p.Val2185=)
n.66C>G
c.6558C>G (p.Val2186=)
n.4821C>G
c.7779C>G (p.Val2593=)
c.7158C>G (p.Val2386=)
c.7878C>G (p.Val2626=)
c.8376C>G (p.Val2792=)
c.5973C>G (p.Val1991=)
2g.237340537G>TCA431675134COL6A3c.1024C>A
c.7761C>A (p.Val2587=)
c.382C>A
n.646C>A
c.8379C>A (p.Val2793=)
c.6555C>A (p.Val2185=)
n.66C>A
c.6558C>A (p.Val2186=)
n.4821C>A
c.7779C>A (p.Val2593=)
c.7158C>A (p.Val2386=)
c.7878C>A (p.Val2626=)
c.8376C>A (p.Val2792=)
c.5973C>A (p.Val1991=)
2g.237340538_237340540delCA540461457COL6A3c.1022_1024del
c.7759_7761del (p.Val2587del)
c.380_382del
n.644_646del
c.8377_8379del (p.Val2793del)
c.6553_6555del (p.Val2185del)
n.64_66del
c.6556_6558del (p.Val2186del)
n.4819_4821del
c.7777_7779del (p.Val2593del)
c.7156_7158del (p.Val2386del)
c.7876_7878del (p.Val2626del)
c.8374_8376del (p.Val2792del)
c.5971_5973del (p.Val1991del)
 dbSNP gnomAD v2 gnomAD v4
2g.237340538A>CCA351194904COL6A3c.1023T>G
c.7760T>G (p.Val2587Gly)
c.381T>G
n.645T>G
c.8378T>G (p.Val2793Gly)
c.6554T>G (p.Val2185Gly)
n.65T>G
c.6557T>G (p.Val2186Gly)
n.4820T>G
c.7778T>G (p.Val2593Gly)
c.7157T>G (p.Val2386Gly)
c.7877T>G (p.Val2626Gly)
c.8375T>G (p.Val2792Gly)
c.5972T>G (p.Val1991Gly)
2g.237340538A>GCA351194906COL6A3c.1023T>C
c.7760T>C (p.Val2587Ala)
c.381T>C
n.645T>C
c.8378T>C (p.Val2793Ala)
c.6554T>C (p.Val2185Ala)
n.65T>C
c.6557T>C (p.Val2186Ala)
n.4820T>C
c.7778T>C (p.Val2593Ala)
c.7157T>C (p.Val2386Ala)
c.7877T>C (p.Val2626Ala)
c.8375T>C (p.Val2792Ala)
c.5972T>C (p.Val1991Ala)
2g.237340538A>TCA351194908COL6A3c.1023T>A
c.7760T>A (p.Val2587Asp)
c.381T>A
n.645T>A
c.8378T>A (p.Val2793Asp)
c.6554T>A (p.Val2185Asp)
n.65T>A
c.6557T>A (p.Val2186Asp)
n.4820T>A
c.7778T>A (p.Val2593Asp)
c.7157T>A (p.Val2386Asp)
c.7877T>A (p.Val2626Asp)
c.8375T>A (p.Val2792Asp)
c.5972T>A (p.Val1991Asp)
2g.237340539C>ACA351194911COL6A3c.1022G>T
c.7759G>T (p.Val2587Phe)
c.380G>T
n.644G>T
c.8377G>T (p.Val2793Phe)
c.6553G>T (p.Val2185Phe)
n.64G>T
c.6556G>T (p.Val2186Phe)
n.4819G>T
c.7777G>T (p.Val2593Phe)
c.7156G>T (p.Val2386Phe)
c.7876G>T (p.Val2626Phe)
c.8374G>T (p.Val2792Phe)
c.5971G>T (p.Val1991Phe)
2g.237340539C=CA1337608563COL6A3c.1022G=
c.7759G= (p.Val2587=)
c.380G=
n.644G=
c.8377G= (p.Val2793=)
c.6553G= (p.Val2185=)
n.64G=
c.6556G= (p.Val2186=)
n.4819G=
c.7777G= (p.Val2593=)
c.7156G= (p.Val2386=)
c.7876G= (p.Val2626=)
c.8374G= (p.Val2792=)
c.5971G= (p.Val1991=)
2g.237340539C>GCA351194913COL6A3c.1022G>C
c.7759G>C (p.Val2587Leu)
c.380G>C
n.644G>C
c.8377G>C (p.Val2793Leu)
c.6553G>C (p.Val2185Leu)
n.64G>C
c.6556G>C (p.Val2186Leu)
n.4819G>C
c.7777G>C (p.Val2593Leu)
c.7156G>C (p.Val2386Leu)
c.7876G>C (p.Val2626Leu)
c.8374G>C (p.Val2792Leu)
c.5971G>C (p.Val1991Leu)
2g.237340539C>TCA2187566COL6A3c.1022G>A
c.7759G>A (p.Val2587Ile)
c.380G>A
n.644G>A
c.8377G>A (p.Val2793Ile)
c.6553G>A (p.Val2185Ile)
n.64G>A
c.6556G>A (p.Val2186Ile)
n.4819G>A
c.7777G>A (p.Val2593Ile)
c.7156G>A (p.Val2386Ile)
c.7876G>A (p.Val2626Ile)
c.8374G>A (p.Val2792Ile)
c.5971G>A (p.Val1991Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237340540G>ACA2187567COL6A3c.1021C>T
c.7758C>T (p.Asp2586=)
c.379C>T
n.643C>T
c.8376C>T (p.Asp2792=)
c.6552C>T (p.Asp2184=)
n.63C>T
c.6555C>T (p.Asp2185=)
n.4818C>T
c.7776C>T (p.Asp2592=)
c.7155C>T (p.Asp2385=)
c.7875C>T (p.Asp2625=)
c.8373C>T (p.Asp2791=)
c.5970C>T (p.Asp1990=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237340540G>CCA351194921COL6A3c.1021C>G
c.7758C>G (p.Asp2586Glu)
c.379C>G
n.643C>G
c.8376C>G (p.Asp2792Glu)
c.6552C>G (p.Asp2184Glu)
n.63C>G
c.6555C>G (p.Asp2185Glu)
n.4818C>G
c.7776C>G (p.Asp2592Glu)
c.7155C>G (p.Asp2385Glu)
c.7875C>G (p.Asp2625Glu)
c.8373C>G (p.Asp2791Glu)
c.5970C>G (p.Asp1990Glu)
2g.237340540G=CA1337608568COL6A3c.1021C=
c.7758C= (p.Asp2586=)
c.379C=
n.643C=
c.8376C= (p.Asp2792=)
c.6552C= (p.Asp2184=)
n.63C=
c.6555C= (p.Asp2185=)
n.4818C=
c.7776C= (p.Asp2592=)
c.7155C= (p.Asp2385=)
c.7875C= (p.Asp2625=)
c.8373C= (p.Asp2791=)
c.5970C= (p.Asp1990=)
2g.237340540G>TCA351194919COL6A3c.1021C>A
c.7758C>A (p.Asp2586Glu)
c.379C>A
n.643C>A
c.8376C>A (p.Asp2792Glu)
c.6552C>A (p.Asp2184Glu)
n.63C>A
c.6555C>A (p.Asp2185Glu)
n.4818C>A
c.7776C>A (p.Asp2592Glu)
c.7155C>A (p.Asp2385Glu)
c.7875C>A (p.Asp2625Glu)
c.8373C>A (p.Asp2791Glu)
c.5970C>A (p.Asp1990Glu)
2g.237340541T>ACA351194925COL6A3c.1020A>T
c.7757A>T (p.Asp2586Val)
c.378A>T
n.642A>T
c.8375A>T (p.Asp2792Val)
c.6551A>T (p.Asp2184Val)
n.62A>T
c.6554A>T (p.Asp2185Val)
n.4817A>T
c.7775A>T (p.Asp2592Val)
c.7154A>T (p.Asp2385Val)
c.7874A>T (p.Asp2625Val)
c.8372A>T (p.Asp2791Val)
c.5969A>T (p.Asp1990Val)
2g.237340541T>CCA10606649COL6A3c.1020A>G
c.7757A>G (p.Asp2586Gly)
c.378A>G
n.642A>G
c.8375A>G (p.Asp2792Gly)
c.6551A>G (p.Asp2184Gly)
n.62A>G
c.6554A>G (p.Asp2185Gly)
n.4817A>G
c.7775A>G (p.Asp2592Gly)
c.7154A>G (p.Asp2385Gly)
c.7874A>G (p.Asp2625Gly)
c.8372A>G (p.Asp2791Gly)
c.5969A>G (p.Asp1990Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237340541T>GCA351194928COL6A3c.1020A>C
c.7757A>C (p.Asp2586Ala)
c.378A>C
n.642A>C
c.8375A>C (p.Asp2792Ala)
c.6551A>C (p.Asp2184Ala)
n.62A>C
c.6554A>C (p.Asp2185Ala)
n.4817A>C
c.7775A>C (p.Asp2592Ala)
c.7154A>C (p.Asp2385Ala)
c.7874A>C (p.Asp2625Ala)
c.8372A>C (p.Asp2791Ala)
c.5969A>C (p.Asp1990Ala)
2g.237340541T=CA1337608574COL6A3c.1020A=
c.7757A= (p.Asp2586=)
c.378A=
n.642A=
c.8375A= (p.Asp2792=)
c.6551A= (p.Asp2184=)
n.62A=
c.6554A= (p.Asp2185=)
n.4817A=
c.7775A= (p.Asp2592=)
c.7154A= (p.Asp2385=)
c.7874A= (p.Asp2625=)
c.8372A= (p.Asp2791=)
c.5969A= (p.Asp1990=)
2g.237340542delCA2577289370COL6A3c.1019del
c.7756del (p.Asp2586ThrfsTer6)
c.377del
n.641del
c.8374del (p.Asp2792ThrfsTer6)
c.6550del (p.Asp2184ThrfsTer6)
n.61del
c.6553del (p.Asp2185ThrfsTer6)
n.4816del
c.7774del (p.Asp2592ThrfsTer6)
c.7153del (p.Asp2385ThrfsTer6)
c.7873del (p.Asp2625ThrfsTer6)
c.8371del (p.Asp2791ThrfsTer6)
c.5968del (p.Asp1990ThrfsTer6)
2g.237340542C>ACA351194930COL6A3c.1019G>T
c.7756G>T (p.Asp2586Tyr)
c.377G>T
n.641G>T
c.8374G>T (p.Asp2792Tyr)
c.6550G>T (p.Asp2184Tyr)
n.61G>T
c.6553G>T (p.Asp2185Tyr)
n.4816G>T
c.7774G>T (p.Asp2592Tyr)
c.7153G>T (p.Asp2385Tyr)
c.7873G>T (p.Asp2625Tyr)
c.8371G>T (p.Asp2791Tyr)
c.5968G>T (p.Asp1990Tyr)
2g.237340542C=CA1337608578COL6A3c.1019G=
c.7756G= (p.Asp2586=)
c.377G=
n.641G=
c.8374G= (p.Asp2792=)
c.6550G= (p.Asp2184=)
n.61G=
c.6553G= (p.Asp2185=)
n.4816G=
c.7774G= (p.Asp2592=)
c.7153G= (p.Asp2385=)
c.7873G= (p.Asp2625=)
c.8371G= (p.Asp2791=)
c.5968G= (p.Asp1990=)
2g.237340542C>GCA351194931COL6A3c.1019G>C
c.7756G>C (p.Asp2586His)
c.377G>C
n.641G>C
c.8374G>C (p.Asp2792His)
c.6550G>C (p.Asp2184His)
n.61G>C
c.6553G>C (p.Asp2185His)
n.4816G>C
c.7774G>C (p.Asp2592His)
c.7153G>C (p.Asp2385His)
c.7873G>C (p.Asp2625His)
c.8371G>C (p.Asp2791His)
c.5968G>C (p.Asp1990His)
2g.237340542C>TCA2187568COL6A3c.1019G>A
c.7756G>A (p.Asp2586Asn)
c.377G>A
n.641G>A
c.8374G>A (p.Asp2792Asn)
c.6550G>A (p.Asp2184Asn)
n.61G>A
c.6553G>A (p.Asp2185Asn)
n.4816G>A
c.7774G>A (p.Asp2592Asn)
c.7153G>A (p.Asp2385Asn)
c.7873G>A (p.Asp2625Asn)
c.8371G>A (p.Asp2791Asn)
c.5968G>A (p.Asp1990Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237340543G>ACA2187569COL6A3c.1018C>T
c.7755C>T (p.Asn2585=)
c.376C>T
n.640C>T
c.8373C>T (p.Asn2791=)
c.6549C>T (p.Asn2183=)
n.60C>T
c.6552C>T (p.Asn2184=)
n.4815C>T
c.7773C>T (p.Asn2591=)
c.7152C>T (p.Asn2384=)
c.7872C>T (p.Asn2624=)
c.8370C>T (p.Asn2790=)
c.5967C>T (p.Asn1989=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237340543G>CCA351194935COL6A3c.1018C>G
c.7755C>G (p.Asn2585Lys)
c.376C>G
n.640C>G
c.8373C>G (p.Asn2791Lys)
c.6549C>G (p.Asn2183Lys)
n.60C>G
c.6552C>G (p.Asn2184Lys)
n.4815C>G
c.7773C>G (p.Asn2591Lys)
c.7152C>G (p.Asn2384Lys)
c.7872C>G (p.Asn2624Lys)
c.8370C>G (p.Asn2790Lys)
c.5967C>G (p.Asn1989Lys)
 COSMIC
2g.237340543G=CA1337608584COL6A3c.1018C=
c.7755C= (p.Asn2585=)
c.376C=
n.640C=
c.8373C= (p.Asn2791=)
c.6549C= (p.Asn2183=)
n.60C=
c.6552C= (p.Asn2184=)
n.4815C=
c.7773C= (p.Asn2591=)
c.7152C= (p.Asn2384=)
c.7872C= (p.Asn2624=)
c.8370C= (p.Asn2790=)
c.5967C= (p.Asn1989=)
2g.237340543G>TCA2187570COL6A3c.1018C>A
c.7755C>A (p.Asn2585Lys)
c.376C>A
n.640C>A
c.8373C>A (p.Asn2791Lys)
c.6549C>A (p.Asn2183Lys)
n.60C>A
c.6552C>A (p.Asn2184Lys)
n.4815C>A
c.7773C>A (p.Asn2591Lys)
c.7152C>A (p.Asn2384Lys)
c.7872C>A (p.Asn2624Lys)
c.8370C>A (p.Asn2790Lys)
c.5967C>A (p.Asn1989Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340544T>ACA351194940COL6A3c.1017A>T
c.7754A>T (p.Asn2585Ile)
c.375A>T
n.639A>T
c.8372A>T (p.Asn2791Ile)
c.6548A>T (p.Asn2183Ile)
n.59A>T
c.6551A>T (p.Asn2184Ile)
n.4814A>T
c.7772A>T (p.Asn2591Ile)
c.7151A>T (p.Asn2384Ile)
c.7871A>T (p.Asn2624Ile)
c.8369A>T (p.Asn2790Ile)
c.5966A>T (p.Asn1989Ile)
2g.237340544T>CCA351194942COL6A3c.1017A>G
c.7754A>G (p.Asn2585Ser)
c.375A>G
n.639A>G
c.8372A>G (p.Asn2791Ser)
c.6548A>G (p.Asn2183Ser)
n.59A>G
c.6551A>G (p.Asn2184Ser)
n.4814A>G
c.7772A>G (p.Asn2591Ser)
c.7151A>G (p.Asn2384Ser)
c.7871A>G (p.Asn2624Ser)
c.8369A>G (p.Asn2790Ser)
c.5966A>G (p.Asn1989Ser)
2g.237340544T>GCA351194945COL6A3c.1017A>C
c.7754A>C (p.Asn2585Thr)
c.375A>C
n.639A>C
c.8372A>C (p.Asn2791Thr)
c.6548A>C (p.Asn2183Thr)
n.59A>C
c.6551A>C (p.Asn2184Thr)
n.4814A>C
c.7772A>C (p.Asn2591Thr)
c.7151A>C (p.Asn2384Thr)
c.7871A>C (p.Asn2624Thr)
c.8369A>C (p.Asn2790Thr)
c.5966A>C (p.Asn1989Thr)
2g.237340545T>ACA351194955COL6A3c.1016A>T
c.7753A>T (p.Asn2585Tyr)
c.374A>T
n.638A>T
c.8371A>T (p.Asn2791Tyr)
c.6547A>T (p.Asn2183Tyr)
n.58A>T
c.6550A>T (p.Asn2184Tyr)
n.4813A>T
c.7771A>T (p.Asn2591Tyr)
c.7150A>T (p.Asn2384Tyr)
c.7870A>T (p.Asn2624Tyr)
c.8368A>T (p.Asn2790Tyr)
c.5965A>T (p.Asn1989Tyr)
2g.237340545T>CCA351194951COL6A3c.1016A>G
c.7753A>G (p.Asn2585Asp)
c.374A>G
n.638A>G
c.8371A>G (p.Asn2791Asp)
c.6547A>G (p.Asn2183Asp)
n.58A>G
c.6550A>G (p.Asn2184Asp)
n.4813A>G
c.7771A>G (p.Asn2591Asp)
c.7150A>G (p.Asn2384Asp)
c.7870A>G (p.Asn2624Asp)
c.8368A>G (p.Asn2790Asp)
c.5965A>G (p.Asn1989Asp)
2g.237340545T>GCA351194953COL6A3c.1016A>C
c.7753A>C (p.Asn2585His)
c.374A>C
n.638A>C
c.8371A>C (p.Asn2791His)
c.6547A>C (p.Asn2183His)
n.58A>C
c.6550A>C (p.Asn2184His)
n.4813A>C
c.7771A>C (p.Asn2591His)
c.7150A>C (p.Asn2384His)
c.7870A>C (p.Asn2624His)
c.8368A>C (p.Asn2790His)
c.5965A>C (p.Asn1989His)
2g.237340546T>ACA431675136COL6A3c.1015A>T
c.7752A>T (p.Pro2584=)
c.373A>T
n.637A>T
c.8370A>T (p.Pro2790=)
c.6546A>T (p.Pro2182=)
n.57A>T
c.6549A>T (p.Pro2183=)
n.4812A>T
c.7770A>T (p.Pro2590=)
c.7149A>T (p.Pro2383=)
c.7869A>T (p.Pro2623=)
c.8367A>T (p.Pro2789=)
c.5964A>T (p.Pro1988=)
2g.237340546T>CCA431675138COL6A3c.1015A>G
c.7752A>G (p.Pro2584=)
c.373A>G
n.637A>G
c.8370A>G (p.Pro2790=)
c.6546A>G (p.Pro2182=)
n.57A>G
c.6549A>G (p.Pro2183=)
n.4812A>G
c.7770A>G (p.Pro2590=)
c.7149A>G (p.Pro2383=)
c.7869A>G (p.Pro2623=)
c.8367A>G (p.Pro2789=)
c.5964A>G (p.Pro1988=)
2g.237340546T>GCA431675137COL6A3c.1015A>C
c.7752A>C (p.Pro2584=)
c.373A>C
n.637A>C
c.8370A>C (p.Pro2790=)
c.6546A>C (p.Pro2182=)
n.57A>C
c.6549A>C (p.Pro2183=)
n.4812A>C
c.7770A>C (p.Pro2590=)
c.7149A>C (p.Pro2383=)
c.7869A>C (p.Pro2623=)
c.8367A>C (p.Pro2789=)
c.5964A>C (p.Pro1988=)
2g.237340547G>ACA351194960COL6A3c.1014C>T
c.7751C>T (p.Pro2584Leu)
c.372C>T
n.636C>T
c.8369C>T (p.Pro2790Leu)
c.6545C>T (p.Pro2182Leu)
n.56C>T
c.6548C>T (p.Pro2183Leu)
n.4811C>T
c.7769C>T (p.Pro2590Leu)
c.7148C>T (p.Pro2383Leu)
c.7868C>T (p.Pro2623Leu)
c.8366C>T (p.Pro2789Leu)
c.5963C>T (p.Pro1988Leu)
2g.237340547G>CCA351194963COL6A3c.1014C>G
c.7751C>G (p.Pro2584Arg)
c.372C>G
n.636C>G
c.8369C>G (p.Pro2790Arg)
c.6545C>G (p.Pro2182Arg)
n.56C>G
c.6548C>G (p.Pro2183Arg)
n.4811C>G
c.7769C>G (p.Pro2590Arg)
c.7148C>G (p.Pro2383Arg)
c.7868C>G (p.Pro2623Arg)
c.8366C>G (p.Pro2789Arg)
c.5963C>G (p.Pro1988Arg)
2g.237340547G>TCA351194966COL6A3c.1014C>A
c.7751C>A (p.Pro2584Gln)
c.372C>A
n.636C>A
c.8369C>A (p.Pro2790Gln)
c.6545C>A (p.Pro2182Gln)
n.56C>A
c.6548C>A (p.Pro2183Gln)
n.4811C>A
c.7769C>A (p.Pro2590Gln)
c.7148C>A (p.Pro2383Gln)
c.7868C>A (p.Pro2623Gln)
c.8366C>A (p.Pro2789Gln)
c.5963C>A (p.Pro1988Gln)
2g.237340548G>ACA351194970COL6A3c.1013C>T
c.7750C>T (p.Pro2584Ser)
c.371C>T
n.635C>T
c.8368C>T (p.Pro2790Ser)
c.6544C>T (p.Pro2182Ser)
n.55C>T
c.6547C>T (p.Pro2183Ser)
n.4810C>T
c.7768C>T (p.Pro2590Ser)
c.7147C>T (p.Pro2383Ser)
c.7867C>T (p.Pro2623Ser)
c.8365C>T (p.Pro2789Ser)
c.5962C>T (p.Pro1988Ser)
 dbSNP
2g.237340548G>CCA351194972COL6A3c.1013C>G
c.7750C>G (p.Pro2584Ala)
c.371C>G
n.635C>G
c.8368C>G (p.Pro2790Ala)
c.6544C>G (p.Pro2182Ala)
n.55C>G
c.6547C>G (p.Pro2183Ala)
n.4810C>G
c.7768C>G (p.Pro2590Ala)
c.7147C>G (p.Pro2383Ala)
c.7867C>G (p.Pro2623Ala)
c.8365C>G (p.Pro2789Ala)
c.5962C>G (p.Pro1988Ala)
2g.237340548G=CA1337608587COL6A3c.1013C=
c.7750C= (p.Pro2584=)
c.371C=
n.635C=
c.8368C= (p.Pro2790=)
c.6544C= (p.Pro2182=)
n.55C=
c.6547C= (p.Pro2183=)
n.4810C=
c.7768C= (p.Pro2590=)
c.7147C= (p.Pro2383=)
c.7867C= (p.Pro2623=)
c.8365C= (p.Pro2789=)
c.5962C= (p.Pro1988=)
2g.237340548G>TCA351194975COL6A3c.1013C>A
c.7750C>A (p.Pro2584Thr)
c.371C>A
n.635C>A
c.8368C>A (p.Pro2790Thr)
c.6544C>A (p.Pro2182Thr)
n.55C>A
c.6547C>A (p.Pro2183Thr)
n.4810C>A
c.7768C>A (p.Pro2590Thr)
c.7147C>A (p.Pro2383Thr)
c.7867C>A (p.Pro2623Thr)
c.8365C>A (p.Pro2789Thr)
c.5962C>A (p.Pro1988Thr)
2g.237340549C>ACA351194976COL6A3c.1012G>T
c.7749G>T (p.Glu2583Asp)
c.370G>T
n.634G>T
c.8367G>T (p.Glu2789Asp)
c.6543G>T (p.Glu2181Asp)
n.54G>T
c.6546G>T (p.Glu2182Asp)
n.4809G>T
c.7767G>T (p.Glu2589Asp)
c.7146G>T (p.Glu2382Asp)
c.7866G>T (p.Glu2622Asp)
c.8364G>T (p.Glu2788Asp)
c.5961G>T (p.Glu1987Asp)
2g.237340549C>GCA351194978COL6A3c.1012G>C
c.7749G>C (p.Glu2583Asp)
c.370G>C
n.634G>C
c.8367G>C (p.Glu2789Asp)
c.6543G>C (p.Glu2181Asp)
n.54G>C
c.6546G>C (p.Glu2182Asp)
n.4809G>C
c.7767G>C (p.Glu2589Asp)
c.7146G>C (p.Glu2382Asp)
c.7866G>C (p.Glu2622Asp)
c.8364G>C (p.Glu2788Asp)
c.5961G>C (p.Glu1987Asp)
2g.237340549C>TCA431701409COL6A3c.1012G>A
c.7749G>A (p.Glu2583=)
c.370G>A
n.634G>A
c.8367G>A (p.Glu2789=)
c.6543G>A (p.Glu2181=)
n.54G>A
c.6546G>A (p.Glu2182=)
n.4809G>A
c.7767G>A (p.Glu2589=)
c.7146G>A (p.Glu2382=)
c.7866G>A (p.Glu2622=)
c.8364G>A (p.Glu2788=)
c.5961G>A (p.Glu1987=)
2g.237340550T>ACA351194983COL6A3c.1011A>T
c.7748A>T (p.Glu2583Val)
c.369A>T
n.633A>T
c.8366A>T (p.Glu2789Val)
c.6542A>T (p.Glu2181Val)
n.53A>T
c.6545A>T (p.Glu2182Val)
n.4808A>T
c.7766A>T (p.Glu2589Val)
c.7145A>T (p.Glu2382Val)
c.7865A>T (p.Glu2622Val)
c.8363A>T (p.Glu2788Val)
c.5960A>T (p.Glu1987Val)
2g.237340550T>CCA351194986COL6A3c.1011A>G
c.7748A>G (p.Glu2583Gly)
c.369A>G
n.633A>G
c.8366A>G (p.Glu2789Gly)
c.6542A>G (p.Glu2181Gly)
n.53A>G
c.6545A>G (p.Glu2182Gly)
n.4808A>G
c.7766A>G (p.Glu2589Gly)
c.7145A>G (p.Glu2382Gly)
c.7865A>G (p.Glu2622Gly)
c.8363A>G (p.Glu2788Gly)
c.5960A>G (p.Glu1987Gly)
2g.237340550T>GCA351194988COL6A3c.1011A>C
c.7748A>C (p.Glu2583Ala)
c.369A>C
n.633A>C
c.8366A>C (p.Glu2789Ala)
c.6542A>C (p.Glu2181Ala)
n.53A>C
c.6545A>C (p.Glu2182Ala)
n.4808A>C
c.7766A>C (p.Glu2589Ala)
c.7145A>C (p.Glu2382Ala)
c.7865A>C (p.Glu2622Ala)
c.8363A>C (p.Glu2788Ala)
c.5960A>C (p.Glu1987Ala)
2g.237340551C>ACA351194992COL6A3c.1010G>T
c.7747G>T (p.Glu2583Ter)
c.368G>T
n.632G>T
c.8365G>T (p.Glu2789Ter)
c.6541G>T (p.Glu2181Ter)
n.52G>T
c.6544G>T (p.Glu2182Ter)
n.4807G>T
c.7765G>T (p.Glu2589Ter)
c.7144G>T (p.Glu2382Ter)
c.7864G>T (p.Glu2622Ter)
c.8362G>T (p.Glu2788Ter)
c.5959G>T (p.Glu1987Ter)
2g.237340551C=CA1337608590COL6A3c.1010G=
c.7747G= (p.Glu2583=)
c.368G=
n.632G=
c.8365G= (p.Glu2789=)
c.6541G= (p.Glu2181=)
n.52G=
c.6544G= (p.Glu2182=)
n.4807G=
c.7765G= (p.Glu2589=)
c.7144G= (p.Glu2382=)
c.7864G= (p.Glu2622=)
c.8362G= (p.Glu2788=)
c.5959G= (p.Glu1987=)
2g.237340551C>GCA351194994COL6A3c.1010G>C
c.7747G>C (p.Glu2583Gln)
c.368G>C
n.632G>C
c.8365G>C (p.Glu2789Gln)
c.6541G>C (p.Glu2181Gln)
n.52G>C
c.6544G>C (p.Glu2182Gln)
n.4807G>C
c.7765G>C (p.Glu2589Gln)
c.7144G>C (p.Glu2382Gln)
c.7864G>C (p.Glu2622Gln)
c.8362G>C (p.Glu2788Gln)
c.5959G>C (p.Glu1987Gln)
2g.237340551C>TCA351194990COL6A3c.1010G>A
c.7747G>A (p.Glu2583Lys)
c.368G>A
n.632G>A
c.8365G>A (p.Glu2789Lys)
c.6541G>A (p.Glu2181Lys)
n.52G>A
c.6544G>A (p.Glu2182Lys)
n.4807G>A
c.7765G>A (p.Glu2589Lys)
c.7144G>A (p.Glu2382Lys)
c.7864G>A (p.Glu2622Lys)
c.8362G>A (p.Glu2788Lys)
c.5959G>A (p.Glu1987Lys)
 dbSNP
2g.237340552A>CCA351194998COL6A3c.1009T>G
c.7746T>G (p.Ser2582Arg)
c.367T>G
n.631T>G
c.8364T>G (p.Ser2788Arg)
c.6540T>G (p.Ser2180Arg)
n.51T>G
c.6543T>G (p.Ser2181Arg)
n.4806T>G
c.7764T>G (p.Ser2588Arg)
c.7143T>G (p.Ser2381Arg)
c.7863T>G (p.Ser2621Arg)
c.8361T>G (p.Ser2787Arg)
c.5958T>G (p.Ser1986Arg)
2g.237340552A>GCA431701424COL6A3c.1009T>C
c.7746T>C (p.Ser2582=)
c.367T>C
n.631T>C
c.8364T>C (p.Ser2788=)
c.6540T>C (p.Ser2180=)
n.51T>C
c.6543T>C (p.Ser2181=)
n.4806T>C
c.7764T>C (p.Ser2588=)
c.7143T>C (p.Ser2381=)
c.7863T>C (p.Ser2621=)
c.8361T>C (p.Ser2787=)
c.5958T>C (p.Ser1986=)
2g.237340552A>TCA351194996COL6A3c.1009T>A
c.7746T>A (p.Ser2582Arg)
c.367T>A
n.631T>A
c.8364T>A (p.Ser2788Arg)
c.6540T>A (p.Ser2180Arg)
n.51T>A
c.6543T>A (p.Ser2181Arg)
n.4806T>A
c.7764T>A (p.Ser2588Arg)
c.7143T>A (p.Ser2381Arg)
c.7863T>A (p.Ser2621Arg)
c.8361T>A (p.Ser2787Arg)
c.5958T>A (p.Ser1986Arg)
2g.237340553C>ACA351195004COL6A3c.1008G>T
c.7745G>T (p.Ser2582Ile)
c.366G>T
n.630G>T
c.8363G>T (p.Ser2788Ile)
c.6539G>T (p.Ser2180Ile)
n.50G>T
c.6542G>T (p.Ser2181Ile)
n.4805G>T
c.7763G>T (p.Ser2588Ile)
c.7142G>T (p.Ser2381Ile)
c.7862G>T (p.Ser2621Ile)
c.8360G>T (p.Ser2787Ile)
c.5957G>T (p.Ser1986Ile)
2g.237340553C>GCA351195006COL6A3c.1008G>C
c.7745G>C (p.Ser2582Thr)
c.366G>C
n.630G>C
c.8363G>C (p.Ser2788Thr)
c.6539G>C (p.Ser2180Thr)
n.50G>C
c.6542G>C (p.Ser2181Thr)
n.4805G>C
c.7763G>C (p.Ser2588Thr)
c.7142G>C (p.Ser2381Thr)
c.7862G>C (p.Ser2621Thr)
c.8360G>C (p.Ser2787Thr)
c.5957G>C (p.Ser1986Thr)
2g.237340553C>TCA351195009COL6A3c.1008G>A
c.7745G>A (p.Ser2582Asn)
c.366G>A
n.630G>A
c.8363G>A (p.Ser2788Asn)
c.6539G>A (p.Ser2180Asn)
n.50G>A
c.6542G>A (p.Ser2181Asn)
n.4805G>A
c.7763G>A (p.Ser2588Asn)
c.7142G>A (p.Ser2381Asn)
c.7862G>A (p.Ser2621Asn)
c.8360G>A (p.Ser2787Asn)
c.5957G>A (p.Ser1986Asn)
2g.237340554T>ACA351195012COL6A3c.1007A>T
c.7744A>T (p.Ser2582Cys)
c.365A>T
n.629A>T
c.8362A>T (p.Ser2788Cys)
c.6538A>T (p.Ser2180Cys)
n.49A>T
c.6541A>T (p.Ser2181Cys)
n.4804A>T
c.7762A>T (p.Ser2588Cys)
c.7141A>T (p.Ser2381Cys)
c.7861A>T (p.Ser2621Cys)
c.8359A>T (p.Ser2787Cys)
c.5956A>T (p.Ser1986Cys)
2g.237340554T>CCA351195015COL6A3c.1007A>G
c.7744A>G (p.Ser2582Gly)
c.365A>G
n.629A>G
c.8362A>G (p.Ser2788Gly)
c.6538A>G (p.Ser2180Gly)
n.49A>G
c.6541A>G (p.Ser2181Gly)
n.4804A>G
c.7762A>G (p.Ser2588Gly)
c.7141A>G (p.Ser2381Gly)
c.7861A>G (p.Ser2621Gly)
c.8359A>G (p.Ser2787Gly)
c.5956A>G (p.Ser1986Gly)
 dbSNP
2g.237340554T>GCA351195017COL6A3c.1007A>C
c.7744A>C (p.Ser2582Arg)
c.365A>C
n.629A>C
c.8362A>C (p.Ser2788Arg)
c.6538A>C (p.Ser2180Arg)
n.49A>C
c.6541A>C (p.Ser2181Arg)
n.4804A>C
c.7762A>C (p.Ser2588Arg)
c.7141A>C (p.Ser2381Arg)
c.7861A>C (p.Ser2621Arg)
c.8359A>C (p.Ser2787Arg)
c.5956A>C (p.Ser1986Arg)
 gnomAD v4
2g.237340554T=CA1337608594COL6A3c.1007A=
c.7744A= (p.Ser2582=)
c.365A=
n.629A=
c.8362A= (p.Ser2788=)
c.6538A= (p.Ser2180=)
n.49A=
c.6541A= (p.Ser2181=)
n.4804A=
c.7762A= (p.Ser2588=)
c.7141A= (p.Ser2381=)
c.7861A= (p.Ser2621=)
c.8359A= (p.Ser2787=)
c.5956A= (p.Ser1986=)
2g.237340555G>ACA431701446COL6A3c.1006C>T
c.7743C>T (p.Ala2581=)
c.364C>T
n.628C>T
c.8361C>T (p.Ala2787=)
c.6537C>T (p.Ala2179=)
n.48C>T
c.6540C>T (p.Ala2180=)
n.4803C>T
c.7761C>T (p.Ala2587=)
c.7140C>T (p.Ala2380=)
c.7860C>T (p.Ala2620=)
c.8358C>T (p.Ala2786=)
c.5955C>T (p.Ala1985=)
 gnomAD v4
2g.237340555G>CCA431701451COL6A3c.1006C>G
c.7743C>G (p.Ala2581=)
c.364C>G
n.628C>G
c.8361C>G (p.Ala2787=)
c.6537C>G (p.Ala2179=)
n.48C>G
c.6540C>G (p.Ala2180=)
n.4803C>G
c.7761C>G (p.Ala2587=)
c.7140C>G (p.Ala2380=)
c.7860C>G (p.Ala2620=)
c.8358C>G (p.Ala2786=)
c.5955C>G (p.Ala1985=)
2g.237340555G>TCA431701456COL6A3c.1006C>A
c.7743C>A (p.Ala2581=)
c.364C>A
n.628C>A
c.8361C>A (p.Ala2787=)
c.6537C>A (p.Ala2179=)
n.48C>A
c.6540C>A (p.Ala2180=)
n.4803C>A
c.7761C>A (p.Ala2587=)
c.7140C>A (p.Ala2380=)
c.7860C>A (p.Ala2620=)
c.8358C>A (p.Ala2786=)
c.5955C>A (p.Ala1985=)
2g.237340556G>ACA351195021COL6A3c.1005C>T
c.7742C>T (p.Ala2581Val)
c.363C>T
n.627C>T
c.8360C>T (p.Ala2787Val)
c.6536C>T (p.Ala2179Val)
n.47C>T
c.6539C>T (p.Ala2180Val)
n.4802C>T
c.7760C>T (p.Ala2587Val)
c.7139C>T (p.Ala2380Val)
c.7859C>T (p.Ala2620Val)
c.8357C>T (p.Ala2786Val)
c.5954C>T (p.Ala1985Val)
 dbSNP gnomAD v2
2g.237340556G>CCA351195024COL6A3c.1005C>G
c.7742C>G (p.Ala2581Gly)
c.363C>G
n.627C>G
c.8360C>G (p.Ala2787Gly)
c.6536C>G (p.Ala2179Gly)
n.47C>G
c.6539C>G (p.Ala2180Gly)
n.4802C>G
c.7760C>G (p.Ala2587Gly)
c.7139C>G (p.Ala2380Gly)
c.7859C>G (p.Ala2620Gly)
c.8357C>G (p.Ala2786Gly)
c.5954C>G (p.Ala1985Gly)
 gnomAD v4
2g.237340556G=CA1337608598COL6A3c.1005C=
c.7742C= (p.Ala2581=)
c.363C=
n.627C=
c.8360C= (p.Ala2787=)
c.6536C= (p.Ala2179=)
n.47C=
c.6539C= (p.Ala2180=)
n.4802C=
c.7760C= (p.Ala2587=)
c.7139C= (p.Ala2380=)
c.7859C= (p.Ala2620=)
c.8357C= (p.Ala2786=)
c.5954C= (p.Ala1985=)
2g.237340556G>TCA351195027COL6A3c.1005C>A
c.7742C>A (p.Ala2581Asp)
c.363C>A
n.627C>A
c.8360C>A (p.Ala2787Asp)
c.6536C>A (p.Ala2179Asp)
n.47C>A
c.6539C>A (p.Ala2180Asp)
n.4802C>A
c.7760C>A (p.Ala2587Asp)
c.7139C>A (p.Ala2380Asp)
c.7859C>A (p.Ala2620Asp)
c.8357C>A (p.Ala2786Asp)
c.5954C>A (p.Ala1985Asp)
2g.237340557C>ACA351195029COL6A3c.1004G>T
c.7741G>T (p.Ala2581Ser)
c.362G>T
n.626G>T
c.8359G>T (p.Ala2787Ser)
c.6535G>T (p.Ala2179Ser)
n.46G>T
c.6538G>T (p.Ala2180Ser)
n.4801G>T
c.7759G>T (p.Ala2587Ser)
c.7138G>T (p.Ala2380Ser)
c.7858G>T (p.Ala2620Ser)
c.8356G>T (p.Ala2786Ser)
c.5953G>T (p.Ala1985Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237340557C=CA1337608604COL6A3c.1004G=
c.7741G= (p.Ala2581=)
c.362G=
n.626G=
c.8359G= (p.Ala2787=)
c.6535G= (p.Ala2179=)
n.46G=
c.6538G= (p.Ala2180=)
n.4801G=
c.7759G= (p.Ala2587=)
c.7138G= (p.Ala2380=)
c.7858G= (p.Ala2620=)
c.8356G= (p.Ala2786=)
c.5953G= (p.Ala1985=)
2g.237340557C>GCA351195032COL6A3c.1004G>C
c.7741G>C (p.Ala2581Pro)
c.362G>C
n.626G>C
c.8359G>C (p.Ala2787Pro)
c.6535G>C (p.Ala2179Pro)
n.46G>C
c.6538G>C (p.Ala2180Pro)
n.4801G>C
c.7759G>C (p.Ala2587Pro)
c.7138G>C (p.Ala2380Pro)
c.7858G>C (p.Ala2620Pro)
c.8356G>C (p.Ala2786Pro)
c.5953G>C (p.Ala1985Pro)
2g.237340557C>TCA2187571COL6A3c.1004G>A
c.7741G>A (p.Ala2581Thr)
c.362G>A
n.626G>A
c.8359G>A (p.Ala2787Thr)
c.6535G>A (p.Ala2179Thr)
n.46G>A
c.6538G>A (p.Ala2180Thr)
n.4801G>A
c.7759G>A (p.Ala2587Thr)
c.7138G>A (p.Ala2380Thr)
c.7858G>A (p.Ala2620Thr)
c.8356G>A (p.Ala2786Thr)
c.5953G>A (p.Ala1985Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340558G>ACA2187572COL6A3c.1003C>T
c.7740C>T (p.Phe2580=)
c.361C>T
n.625C>T
c.8358C>T (p.Phe2786=)
c.6534C>T (p.Phe2178=)
n.45C>T
c.6537C>T (p.Phe2179=)
n.4800C>T
c.7758C>T (p.Phe2586=)
c.7137C>T (p.Phe2379=)
c.7857C>T (p.Phe2619=)
c.8355C>T (p.Phe2785=)
c.5952C>T (p.Phe1984=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237340558G>CCA351195039COL6A3c.1003C>G
c.7740C>G (p.Phe2580Leu)
c.361C>G
n.625C>G
c.8358C>G (p.Phe2786Leu)
c.6534C>G (p.Phe2178Leu)
n.45C>G
c.6537C>G (p.Phe2179Leu)
n.4800C>G
c.7758C>G (p.Phe2586Leu)
c.7137C>G (p.Phe2379Leu)
c.7857C>G (p.Phe2619Leu)
c.8355C>G (p.Phe2785Leu)
c.5952C>G (p.Phe1984Leu)
2g.237340558G=CA1337608613COL6A3c.1003C=
c.7740C= (p.Phe2580=)
c.361C=
n.625C=
c.8358C= (p.Phe2786=)
c.6534C= (p.Phe2178=)
n.45C=
c.6537C= (p.Phe2179=)
n.4800C=
c.7758C= (p.Phe2586=)
c.7137C= (p.Phe2379=)
c.7857C= (p.Phe2619=)
c.8355C= (p.Phe2785=)
c.5952C= (p.Phe1984=)
2g.237340558G>TCA351195042COL6A3c.1003C>A
c.7740C>A (p.Phe2580Leu)
c.361C>A
n.625C>A
c.8358C>A (p.Phe2786Leu)
c.6534C>A (p.Phe2178Leu)
n.45C>A
c.6537C>A (p.Phe2179Leu)
n.4800C>A
c.7758C>A (p.Phe2586Leu)
c.7137C>A (p.Phe2379Leu)
c.7857C>A (p.Phe2619Leu)
c.8355C>A (p.Phe2785Leu)
c.5952C>A (p.Phe1984Leu)
 COSMIC
2g.237340559A>CCA351195049COL6A3c.1002T>G
c.7739T>G (p.Phe2580Cys)
c.360T>G
n.624T>G
c.8357T>G (p.Phe2786Cys)
c.6533T>G (p.Phe2178Cys)
n.44T>G
c.6536T>G (p.Phe2179Cys)
n.4799T>G
c.7757T>G (p.Phe2586Cys)
c.7136T>G (p.Phe2379Cys)
c.7856T>G (p.Phe2619Cys)
c.8354T>G (p.Phe2785Cys)
c.5951T>G (p.Phe1984Cys)
2g.237340559A>GCA351195052COL6A3c.1002T>C
c.7739T>C (p.Phe2580Ser)
c.360T>C
n.624T>C
c.8357T>C (p.Phe2786Ser)
c.6533T>C (p.Phe2178Ser)
n.44T>C
c.6536T>C (p.Phe2179Ser)
n.4799T>C
c.7757T>C (p.Phe2586Ser)
c.7136T>C (p.Phe2379Ser)
c.7856T>C (p.Phe2619Ser)
c.8354T>C (p.Phe2785Ser)
c.5951T>C (p.Phe1984Ser)
 gnomAD v4
2g.237340559A>TCA351195054COL6A3c.1002T>A
c.7739T>A (p.Phe2580Tyr)
c.360T>A
n.624T>A
c.8357T>A (p.Phe2786Tyr)
c.6533T>A (p.Phe2178Tyr)
n.44T>A
c.6536T>A (p.Phe2179Tyr)
n.4799T>A
c.7757T>A (p.Phe2586Tyr)
c.7136T>A (p.Phe2379Tyr)
c.7856T>A (p.Phe2619Tyr)
c.8354T>A (p.Phe2785Tyr)
c.5951T>A (p.Phe1984Tyr)
2g.237340560A>CCA351195058COL6A3c.1001T>G
c.7738T>G (p.Phe2580Val)
c.359T>G
n.623T>G
c.8356T>G (p.Phe2786Val)
c.6532T>G (p.Phe2178Val)
n.43T>G
c.6535T>G (p.Phe2179Val)
n.4798T>G
c.7756T>G (p.Phe2586Val)
c.7135T>G (p.Phe2379Val)
c.7855T>G (p.Phe2619Val)
c.8353T>G (p.Phe2785Val)
c.5950T>G (p.Phe1984Val)
 gnomAD v4
2g.237340560A>GCA351195060COL6A3c.1001T>C
c.7738T>C (p.Phe2580Leu)
c.359T>C
n.623T>C
c.8356T>C (p.Phe2786Leu)
c.6532T>C (p.Phe2178Leu)
n.43T>C
c.6535T>C (p.Phe2179Leu)
n.4798T>C
c.7756T>C (p.Phe2586Leu)
c.7135T>C (p.Phe2379Leu)
c.7855T>C (p.Phe2619Leu)
c.8353T>C (p.Phe2785Leu)
c.5950T>C (p.Phe1984Leu)
2g.237340560A>TCA351195063COL6A3c.1001T>A
c.7738T>A (p.Phe2580Ile)
c.359T>A
n.623T>A
c.8356T>A (p.Phe2786Ile)
c.6532T>A (p.Phe2178Ile)
n.43T>A
c.6535T>A (p.Phe2179Ile)
n.4798T>A
c.7756T>A (p.Phe2586Ile)
c.7135T>A (p.Phe2379Ile)
c.7855T>A (p.Phe2619Ile)
c.8353T>A (p.Phe2785Ile)
c.5950T>A (p.Phe1984Ile)
2g.237340561G>ACA431701495COL6A3c.1000C>T
c.7737C>T (p.Thr2579=)
c.358C>T
n.622C>T
c.8355C>T (p.Thr2785=)
c.6531C>T (p.Thr2177=)
n.42C>T
c.6534C>T (p.Thr2178=)
n.4797C>T
c.7755C>T (p.Thr2585=)
c.7134C>T (p.Thr2378=)
c.7854C>T (p.Thr2618=)
c.8352C>T (p.Thr2784=)
c.5949C>T (p.Thr1983=)
 gnomAD v4
2g.237340561G>CCA431701498COL6A3c.1000C>G
c.7737C>G (p.Thr2579=)
c.358C>G
n.622C>G
c.8355C>G (p.Thr2785=)
c.6531C>G (p.Thr2177=)
n.42C>G
c.6534C>G (p.Thr2178=)
n.4797C>G
c.7755C>G (p.Thr2585=)
c.7134C>G (p.Thr2378=)
c.7854C>G (p.Thr2618=)
c.8352C>G (p.Thr2784=)
c.5949C>G (p.Thr1983=)
2g.237340561G>TCA431701500COL6A3c.1000C>A
c.7737C>A (p.Thr2579=)
c.358C>A
n.622C>A
c.8355C>A (p.Thr2785=)
c.6531C>A (p.Thr2177=)
n.42C>A
c.6534C>A (p.Thr2178=)
n.4797C>A
c.7755C>A (p.Thr2585=)
c.7134C>A (p.Thr2378=)
c.7854C>A (p.Thr2618=)
c.8352C>A (p.Thr2784=)
c.5949C>A (p.Thr1983=)
 gnomAD v4
2g.237340562G>ACA351195067COL6A3c.999C>T
c.7736C>T (p.Thr2579Ile)
c.357C>T
n.621C>T
c.8354C>T (p.Thr2785Ile)
c.6530C>T (p.Thr2177Ile)
n.41C>T
c.6533C>T (p.Thr2178Ile)
n.4796C>T
c.7754C>T (p.Thr2585Ile)
c.7133C>T (p.Thr2378Ile)
c.7853C>T (p.Thr2618Ile)
c.8351C>T (p.Thr2784Ile)
c.5948C>T (p.Thr1983Ile)
2g.237340562G>CCA351195068COL6A3c.999C>G
c.7736C>G (p.Thr2579Ser)
c.357C>G
n.621C>G
c.8354C>G (p.Thr2785Ser)
c.6530C>G (p.Thr2177Ser)
n.41C>G
c.6533C>G (p.Thr2178Ser)
n.4796C>G
c.7754C>G (p.Thr2585Ser)
c.7133C>G (p.Thr2378Ser)
c.7853C>G (p.Thr2618Ser)
c.8351C>G (p.Thr2784Ser)
c.5948C>G (p.Thr1983Ser)
 dbSNP gnomAD v2
2g.237340562G=CA1337608619COL6A3c.999C=
c.7736C= (p.Thr2579=)
c.357C=
n.621C=
c.8354C= (p.Thr2785=)
c.6530C= (p.Thr2177=)
n.41C=
c.6533C= (p.Thr2178=)
n.4796C=
c.7754C= (p.Thr2585=)
c.7133C= (p.Thr2378=)
c.7853C= (p.Thr2618=)
c.8351C= (p.Thr2784=)
c.5948C= (p.Thr1983=)
2g.237340562G>TCA351195070COL6A3c.999C>A
c.7736C>A (p.Thr2579Asn)
c.357C>A
n.621C>A
c.8354C>A (p.Thr2785Asn)
c.6530C>A (p.Thr2177Asn)
n.41C>A
c.6533C>A (p.Thr2178Asn)
n.4796C>A
c.7754C>A (p.Thr2585Asn)
c.7133C>A (p.Thr2378Asn)
c.7853C>A (p.Thr2618Asn)
c.8351C>A (p.Thr2784Asn)
c.5948C>A (p.Thr1983Asn)
2g.237340563T>ACA351195072COL6A3c.998A>T
c.7735A>T (p.Thr2579Ser)
c.356A>T
n.620A>T
c.8353A>T (p.Thr2785Ser)
c.6529A>T (p.Thr2177Ser)
n.40A>T
c.6532A>T (p.Thr2178Ser)
n.4795A>T
c.7753A>T (p.Thr2585Ser)
c.7132A>T (p.Thr2378Ser)
c.7852A>T (p.Thr2618Ser)
c.8350A>T (p.Thr2784Ser)
c.5947A>T (p.Thr1983Ser)
2g.237340563T>CCA2187573COL6A3c.998A>G
c.7735A>G (p.Thr2579Ala)
c.356A>G
n.620A>G
c.8353A>G (p.Thr2785Ala)
c.6529A>G (p.Thr2177Ala)
n.40A>G
c.6532A>G (p.Thr2178Ala)
n.4795A>G
c.7753A>G (p.Thr2585Ala)
c.7132A>G (p.Thr2378Ala)
c.7852A>G (p.Thr2618Ala)
c.8350A>G (p.Thr2784Ala)
c.5947A>G (p.Thr1983Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340563T>GCA351195076COL6A3c.998A>C
c.7735A>C (p.Thr2579Pro)
c.356A>C
n.620A>C
c.8353A>C (p.Thr2785Pro)
c.6529A>C (p.Thr2177Pro)
n.40A>C
c.6532A>C (p.Thr2178Pro)
n.4795A>C
c.7753A>C (p.Thr2585Pro)
c.7132A>C (p.Thr2378Pro)
c.7852A>C (p.Thr2618Pro)
c.8350A>C (p.Thr2784Pro)
c.5947A>C (p.Thr1983Pro)
2g.237340563T=CA1337608623COL6A3c.998A=
c.7735A= (p.Thr2579=)
c.356A=
n.620A=
c.8353A= (p.Thr2785=)
c.6529A= (p.Thr2177=)
n.40A=
c.6532A= (p.Thr2178=)
n.4795A=
c.7753A= (p.Thr2585=)
c.7132A= (p.Thr2378=)
c.7852A= (p.Thr2618=)
c.8350A= (p.Thr2784=)
c.5947A= (p.Thr1983=)
2g.237340564G>ACA431701518COL6A3c.997C>T
c.7734C>T (p.Tyr2578=)
c.355C>T
n.619C>T
c.8352C>T (p.Tyr2784=)
c.6528C>T (p.Tyr2176=)
n.39C>T
c.6531C>T (p.Tyr2177=)
n.4794C>T
c.7752C>T (p.Tyr2584=)
c.7131C>T (p.Tyr2377=)
c.7851C>T (p.Tyr2617=)
c.8349C>T (p.Tyr2783=)
c.5946C>T (p.Tyr1982=)
 dbSNP gnomAD v2 gnomAD v4
2g.237340564G>CCA351195080COL6A3c.997C>G
c.7734C>G (p.Tyr2578Ter)
c.355C>G
n.619C>G
c.8352C>G (p.Tyr2784Ter)
c.6528C>G (p.Tyr2176Ter)
n.39C>G
c.6531C>G (p.Tyr2177Ter)
n.4794C>G
c.7752C>G (p.Tyr2584Ter)
c.7131C>G (p.Tyr2377Ter)
c.7851C>G (p.Tyr2617Ter)
c.8349C>G (p.Tyr2783Ter)
c.5946C>G (p.Tyr1982Ter)
2g.237340564G=CA1337608626COL6A3c.997C=
c.7734C= (p.Tyr2578=)
c.355C=
n.619C=
c.8352C= (p.Tyr2784=)
c.6528C= (p.Tyr2176=)
n.39C=
c.6531C= (p.Tyr2177=)
n.4794C=
c.7752C= (p.Tyr2584=)
c.7131C= (p.Tyr2377=)
c.7851C= (p.Tyr2617=)
c.8349C= (p.Tyr2783=)
c.5946C= (p.Tyr1982=)
2g.237340564G>TCA351195078COL6A3c.997C>A
c.7734C>A (p.Tyr2578Ter)
c.355C>A
n.619C>A
c.8352C>A (p.Tyr2784Ter)
c.6528C>A (p.Tyr2176Ter)
n.39C>A
c.6531C>A (p.Tyr2177Ter)
n.4794C>A
c.7752C>A (p.Tyr2584Ter)
c.7131C>A (p.Tyr2377Ter)
c.7851C>A (p.Tyr2617Ter)
c.8349C>A (p.Tyr2783Ter)
c.5946C>A (p.Tyr1982Ter)
2g.237340565T>ACA351195082COL6A3c.996A>T
c.7733A>T (p.Tyr2578Phe)
c.354A>T
n.618A>T
c.8351A>T (p.Tyr2784Phe)
c.6527A>T (p.Tyr2176Phe)
n.38A>T
c.6530A>T (p.Tyr2177Phe)
n.4793A>T
c.7751A>T (p.Tyr2584Phe)
c.7130A>T (p.Tyr2377Phe)
c.7850A>T (p.Tyr2617Phe)
c.8348A>T (p.Tyr2783Phe)
c.5945A>T (p.Tyr1982Phe)
 ClinVar dbSNP
2g.237340565T>CCA351195084COL6A3c.996A>G
c.7733A>G (p.Tyr2578Cys)
c.354A>G
n.618A>G
c.8351A>G (p.Tyr2784Cys)
c.6527A>G (p.Tyr2176Cys)
n.38A>G
c.6530A>G (p.Tyr2177Cys)
n.4793A>G
c.7751A>G (p.Tyr2584Cys)
c.7130A>G (p.Tyr2377Cys)
c.7850A>G (p.Tyr2617Cys)
c.8348A>G (p.Tyr2783Cys)
c.5945A>G (p.Tyr1982Cys)
2g.237340565T>GCA351195086COL6A3c.996A>C
c.7733A>C (p.Tyr2578Ser)
c.354A>C
n.618A>C
c.8351A>C (p.Tyr2784Ser)
c.6527A>C (p.Tyr2176Ser)
n.38A>C
c.6530A>C (p.Tyr2177Ser)
n.4793A>C
c.7751A>C (p.Tyr2584Ser)
c.7130A>C (p.Tyr2377Ser)
c.7850A>C (p.Tyr2617Ser)
c.8348A>C (p.Tyr2783Ser)
c.5945A>C (p.Tyr1982Ser)
2g.237340566A>CCA351195088COL6A3c.995T>G
c.7732T>G (p.Tyr2578Asp)
c.353T>G
n.617T>G
c.8350T>G (p.Tyr2784Asp)
c.6526T>G (p.Tyr2176Asp)
n.37T>G
c.6529T>G (p.Tyr2177Asp)
n.4792T>G
c.7750T>G (p.Tyr2584Asp)
c.7129T>G (p.Tyr2377Asp)
c.7849T>G (p.Tyr2617Asp)
c.8347T>G (p.Tyr2783Asp)
c.5944T>G (p.Tyr1982Asp)
2g.237340566A>GCA351195090COL6A3c.995T>C
c.7732T>C (p.Tyr2578His)
c.353T>C
n.617T>C
c.8350T>C (p.Tyr2784His)
c.6526T>C (p.Tyr2176His)
n.37T>C
c.6529T>C (p.Tyr2177His)
n.4792T>C
c.7750T>C (p.Tyr2584His)
c.7129T>C (p.Tyr2377His)
c.7849T>C (p.Tyr2617His)
c.8347T>C (p.Tyr2783His)
c.5944T>C (p.Tyr1982His)
2g.237340566A>TCA351195092COL6A3c.995T>A
c.7732T>A (p.Tyr2578Asn)
c.353T>A
n.617T>A
c.8350T>A (p.Tyr2784Asn)
c.6526T>A (p.Tyr2176Asn)
n.37T>A
c.6529T>A (p.Tyr2177Asn)
n.4792T>A
c.7750T>A (p.Tyr2584Asn)
c.7129T>A (p.Tyr2377Asn)
c.7849T>A (p.Tyr2617Asn)
c.8347T>A (p.Tyr2783Asn)
c.5944T>A (p.Tyr1982Asn)
2g.237340567T>ACA431701550COL6A3c.994A>T
c.7731A>T (p.Val2577=)
c.352A>T
n.616A>T
c.8349A>T (p.Val2783=)
c.6525A>T (p.Val2175=)
n.36A>T
c.6528A>T (p.Val2176=)
n.4791A>T
c.7749A>T (p.Val2583=)
c.7128A>T (p.Val2376=)
c.7848A>T (p.Val2616=)
c.8346A>T (p.Val2782=)
c.5943A>T (p.Val1981=)
2g.237340567T>CCA431701554COL6A3c.994A>G
c.7731A>G (p.Val2577=)
c.352A>G
n.616A>G
c.8349A>G (p.Val2783=)
c.6525A>G (p.Val2175=)
n.36A>G
c.6528A>G (p.Val2176=)
n.4791A>G
c.7749A>G (p.Val2583=)
c.7128A>G (p.Val2376=)
c.7848A>G (p.Val2616=)
c.8346A>G (p.Val2782=)
c.5943A>G (p.Val1981=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237340567T>GCA431701558COL6A3c.994A>C
c.7731A>C (p.Val2577=)
c.352A>C
n.616A>C
c.8349A>C (p.Val2783=)
c.6525A>C (p.Val2175=)
n.36A>C
c.6528A>C (p.Val2176=)
n.4791A>C
c.7749A>C (p.Val2583=)
c.7128A>C (p.Val2376=)
c.7848A>C (p.Val2616=)
c.8346A>C (p.Val2782=)
c.5943A>C (p.Val1981=)
2g.237340567T=CA1337608629COL6A3c.994A=
c.7731A= (p.Val2577=)
c.352A=
n.616A=
c.8349A= (p.Val2783=)
c.6525A= (p.Val2175=)
n.36A=
c.6528A= (p.Val2176=)
n.4791A=
c.7749A= (p.Val2583=)
c.7128A= (p.Val2376=)
c.7848A= (p.Val2616=)
c.8346A= (p.Val2782=)
c.5943A= (p.Val1981=)
2g.237340568A=CA1337608632COL6A3c.993T=
c.7730T= (p.Val2577=)
c.351T=
n.615T=
c.8348T= (p.Val2783=)
c.6524T= (p.Val2175=)
n.35T=
c.6527T= (p.Val2176=)
n.4790T=
c.7748T= (p.Val2583=)
c.7127T= (p.Val2376=)
c.7847T= (p.Val2616=)
c.8345T= (p.Val2782=)
c.5942T= (p.Val1981=)
2g.237340568A>CCA351195098COL6A3c.993T>G
c.7730T>G (p.Val2577Gly)
c.351T>G
n.615T>G
c.8348T>G (p.Val2783Gly)
c.6524T>G (p.Val2175Gly)
n.35T>G
c.6527T>G (p.Val2176Gly)
n.4790T>G
c.7748T>G (p.Val2583Gly)
c.7127T>G (p.Val2376Gly)
c.7847T>G (p.Val2616Gly)
c.8345T>G (p.Val2782Gly)
c.5942T>G (p.Val1981Gly)
 dbSNP
2g.237340568A>GCA351195096COL6A3c.993T>C
c.7730T>C (p.Val2577Ala)
c.351T>C
n.615T>C
c.8348T>C (p.Val2783Ala)
c.6524T>C (p.Val2175Ala)
n.35T>C
c.6527T>C (p.Val2176Ala)
n.4790T>C
c.7748T>C (p.Val2583Ala)
c.7127T>C (p.Val2376Ala)
c.7847T>C (p.Val2616Ala)
c.8345T>C (p.Val2782Ala)
c.5942T>C (p.Val1981Ala)
 gnomAD v4
2g.237340568A>TCA351195094COL6A3c.993T>A
c.7730T>A (p.Val2577Glu)
c.351T>A
n.615T>A
c.8348T>A (p.Val2783Glu)
c.6524T>A (p.Val2175Glu)
n.35T>A
c.6527T>A (p.Val2176Glu)
n.4790T>A
c.7748T>A (p.Val2583Glu)
c.7127T>A (p.Val2376Glu)
c.7847T>A (p.Val2616Glu)
c.8345T>A (p.Val2782Glu)
c.5942T>A (p.Val1981Glu)
2g.237340569C>ACA351195100COL6A3c.992G>T
c.7729G>T (p.Val2577Leu)
c.350G>T
n.614G>T
c.8347G>T (p.Val2783Leu)
c.6523G>T (p.Val2175Leu)
n.34G>T
c.6526G>T (p.Val2176Leu)
n.4789G>T
c.7747G>T (p.Val2583Leu)
c.7126G>T (p.Val2376Leu)
c.7846G>T (p.Val2616Leu)
c.8344G>T (p.Val2782Leu)
c.5941G>T (p.Val1981Leu)
 gnomAD v4
2g.237340569C>GCA351195102COL6A3c.992G>C
c.7729G>C (p.Val2577Leu)
c.350G>C
n.614G>C
c.8347G>C (p.Val2783Leu)
c.6523G>C (p.Val2175Leu)
n.34G>C
c.6526G>C (p.Val2176Leu)
n.4789G>C
c.7747G>C (p.Val2583Leu)
c.7126G>C (p.Val2376Leu)
c.7846G>C (p.Val2616Leu)
c.8344G>C (p.Val2782Leu)
c.5941G>C (p.Val1981Leu)
2g.237340569C>TCA351195104COL6A3c.992G>A
c.7729G>A (p.Val2577Ile)
c.350G>A
n.614G>A
c.8347G>A (p.Val2783Ile)
c.6523G>A (p.Val2175Ile)
n.34G>A
c.6526G>A (p.Val2176Ile)
n.4789G>A
c.7747G>A (p.Val2583Ile)
c.7126G>A (p.Val2376Ile)
c.7846G>A (p.Val2616Ile)
c.8344G>A (p.Val2782Ile)
c.5941G>A (p.Val1981Ile)
 gnomAD v4
2g.237340570C>ACA351195106COL6A3c.991G>T
c.7728G>T (p.Glu2576Asp)
c.349G>T
n.613G>T
c.8346G>T (p.Glu2782Asp)
c.6522G>T (p.Glu2174Asp)
n.33G>T
c.6525G>T (p.Glu2175Asp)
n.4788G>T
c.7746G>T (p.Glu2582Asp)
c.7125G>T (p.Glu2375Asp)
c.7845G>T (p.Glu2615Asp)
c.8343G>T (p.Glu2781Asp)
c.5940G>T (p.Glu1980Asp)
2g.237340570C=CA1337608635COL6A3c.991G=
c.7728G= (p.Glu2576=)
c.349G=
n.613G=
c.8346G= (p.Glu2782=)
c.6522G= (p.Glu2174=)
n.33G=
c.6525G= (p.Glu2175=)
n.4788G=
c.7746G= (p.Glu2582=)
c.7125G= (p.Glu2375=)
c.7845G= (p.Glu2615=)
c.8343G= (p.Glu2781=)
c.5940G= (p.Glu1980=)
2g.237340570C>GCA351195107COL6A3c.991G>C
c.7728G>C (p.Glu2576Asp)
c.349G>C
n.613G>C
c.8346G>C (p.Glu2782Asp)
c.6522G>C (p.Glu2174Asp)
n.33G>C
c.6525G>C (p.Glu2175Asp)
n.4788G>C
c.7746G>C (p.Glu2582Asp)
c.7125G>C (p.Glu2375Asp)
c.7845G>C (p.Glu2615Asp)
c.8343G>C (p.Glu2781Asp)
c.5940G>C (p.Glu1980Asp)
2g.237340570C>TCA202668COL6A3c.991G>A
c.7728G>A (p.Glu2576=)
c.349G>A
n.613G>A
c.8346G>A (p.Glu2782=)
c.6522G>A (p.Glu2174=)
n.33G>A
c.6525G>A (p.Glu2175=)
n.4788G>A
c.7746G>A (p.Glu2582=)
c.7125G>A (p.Glu2375=)
c.7845G>A (p.Glu2615=)
c.8343G>A (p.Glu2781=)
c.5940G>A (p.Glu1980=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340571T>ACA351195110COL6A3c.990A>T
c.7727A>T (p.Glu2576Val)
c.348A>T
n.612A>T
c.8345A>T (p.Glu2782Val)
c.6521A>T (p.Glu2174Val)
n.32A>T
c.6524A>T (p.Glu2175Val)
n.4787A>T
c.7745A>T (p.Glu2582Val)
c.7124A>T (p.Glu2375Val)
c.7844A>T (p.Glu2615Val)
c.8342A>T (p.Glu2781Val)
c.5939A>T (p.Glu1980Val)
2g.237340571T>CCA351195114COL6A3c.990A>G
c.7727A>G (p.Glu2576Gly)
c.348A>G
n.612A>G
c.8345A>G (p.Glu2782Gly)
c.6521A>G (p.Glu2174Gly)
n.32A>G
c.6524A>G (p.Glu2175Gly)
n.4787A>G
c.7745A>G (p.Glu2582Gly)
c.7124A>G (p.Glu2375Gly)
c.7844A>G (p.Glu2615Gly)
c.8342A>G (p.Glu2781Gly)
c.5939A>G (p.Glu1980Gly)
2g.237340571T>GCA351195112COL6A3c.990A>C
c.7727A>C (p.Glu2576Ala)
c.348A>C
n.612A>C
c.8345A>C (p.Glu2782Ala)
c.6521A>C (p.Glu2174Ala)
n.32A>C
c.6524A>C (p.Glu2175Ala)
n.4787A>C
c.7745A>C (p.Glu2582Ala)
c.7124A>C (p.Glu2375Ala)
c.7844A>C (p.Glu2615Ala)
c.8342A>C (p.Glu2781Ala)
c.5939A>C (p.Glu1980Ala)
2g.237340572C>ACA351195117COL6A3c.989G>T
c.7726G>T (p.Glu2576Ter)
c.347G>T
n.611G>T
c.8344G>T (p.Glu2782Ter)
c.6520G>T (p.Glu2174Ter)
n.31G>T
c.6523G>T (p.Glu2175Ter)
n.4786G>T
c.7744G>T (p.Glu2582Ter)
c.7123G>T (p.Glu2375Ter)
c.7843G>T (p.Glu2615Ter)
c.8341G>T (p.Glu2781Ter)
c.5938G>T (p.Glu1980Ter)
2g.237340572C=CA1337608640COL6A3c.989G=
c.7726G= (p.Glu2576=)
c.347G=
n.611G=
c.8344G= (p.Glu2782=)
c.6520G= (p.Glu2174=)
n.31G=
c.6523G= (p.Glu2175=)
n.4786G=
c.7744G= (p.Glu2582=)
c.7123G= (p.Glu2375=)
c.7843G= (p.Glu2615=)
c.8341G= (p.Glu2781=)
c.5938G= (p.Glu1980=)
2g.237340572C>GCA351195118COL6A3c.989G>C
c.7726G>C (p.Glu2576Gln)
c.347G>C
n.611G>C
c.8344G>C (p.Glu2782Gln)
c.6520G>C (p.Glu2174Gln)
n.31G>C
c.6523G>C (p.Glu2175Gln)
n.4786G>C
c.7744G>C (p.Glu2582Gln)
c.7123G>C (p.Glu2375Gln)
c.7843G>C (p.Glu2615Gln)
c.8341G>C (p.Glu2781Gln)
c.5938G>C (p.Glu1980Gln)
2g.237340572C>TCA244925COL6A3c.989G>A
c.7726G>A (p.Glu2576Lys)
c.347G>A
n.611G>A
c.8344G>A (p.Glu2782Lys)
c.6520G>A (p.Glu2174Lys)
n.31G>A
c.6523G>A (p.Glu2175Lys)
n.4786G>A
c.7744G>A (p.Glu2582Lys)
c.7123G>A (p.Glu2375Lys)
c.7843G>A (p.Glu2615Lys)
c.8341G>A (p.Glu2781Lys)
c.5938G>A (p.Glu1980Lys)
 ClinVar dbSNP
2g.237340573C>ACA351195122COL6A3c.988G>T
c.7725G>T (p.Lys2575Asn)
c.346G>T
n.610G>T
c.8343G>T (p.Lys2781Asn)
c.6519G>T (p.Lys2173Asn)
n.30G>T
c.6522G>T (p.Lys2174Asn)
n.4785G>T
c.7743G>T (p.Lys2581Asn)
c.7122G>T (p.Lys2374Asn)
c.7842G>T (p.Lys2614Asn)
c.8340G>T (p.Lys2780Asn)
c.5937G>T (p.Lys1979Asn)
2g.237340573C=CA1337608645COL6A3c.988G=
c.7725G= (p.Lys2575=)
c.346G=
n.610G=
c.8343G= (p.Lys2781=)
c.6519G= (p.Lys2173=)
n.30G=
c.6522G= (p.Lys2174=)
n.4785G=
c.7743G= (p.Lys2581=)
c.7122G= (p.Lys2374=)
c.7842G= (p.Lys2614=)
c.8340G= (p.Lys2780=)
c.5937G= (p.Lys1979=)
2g.237340573C>GCA351195124COL6A3c.988G>C
c.7725G>C (p.Lys2575Asn)
c.346G>C
n.610G>C
c.8343G>C (p.Lys2781Asn)
c.6519G>C (p.Lys2173Asn)
n.30G>C
c.6522G>C (p.Lys2174Asn)
n.4785G>C
c.7743G>C (p.Lys2581Asn)
c.7122G>C (p.Lys2374Asn)
c.7842G>C (p.Lys2614Asn)
c.8340G>C (p.Lys2780Asn)
c.5937G>C (p.Lys1979Asn)
2g.237340573C>TCA2187574COL6A3c.988G>A
c.7725G>A (p.Lys2575=)
c.346G>A
n.610G>A
c.8343G>A (p.Lys2781=)
c.6519G>A (p.Lys2173=)
n.30G>A
c.6522G>A (p.Lys2174=)
n.4785G>A
c.7743G>A (p.Lys2581=)
c.7122G>A (p.Lys2374=)
c.7842G>A (p.Lys2614=)
c.8340G>A (p.Lys2780=)
c.5937G>A (p.Lys1979=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340574T>ACA351195126COL6A3c.987A>T
c.7724A>T (p.Lys2575Met)
c.345A>T
n.609A>T
c.8342A>T (p.Lys2781Met)
c.6518A>T (p.Lys2173Met)
n.29A>T
c.6521A>T (p.Lys2174Met)
n.4784A>T
c.7742A>T (p.Lys2581Met)
c.7121A>T (p.Lys2374Met)
c.7841A>T (p.Lys2614Met)
c.8339A>T (p.Lys2780Met)
c.5936A>T (p.Lys1979Met)
2g.237340574T>CCA351195127COL6A3c.987A>G
c.7724A>G (p.Lys2575Arg)
c.345A>G
n.609A>G
c.8342A>G (p.Lys2781Arg)
c.6518A>G (p.Lys2173Arg)
n.29A>G
c.6521A>G (p.Lys2174Arg)
n.4784A>G
c.7742A>G (p.Lys2581Arg)
c.7121A>G (p.Lys2374Arg)
c.7841A>G (p.Lys2614Arg)
c.8339A>G (p.Lys2780Arg)
c.5936A>G (p.Lys1979Arg)
 gnomAD v4
2g.237340574T>GCA351195128COL6A3c.987A>C
c.7724A>C (p.Lys2575Thr)
c.345A>C
n.609A>C
c.8342A>C (p.Lys2781Thr)
c.6518A>C (p.Lys2173Thr)
n.29A>C
c.6521A>C (p.Lys2174Thr)
n.4784A>C
c.7742A>C (p.Lys2581Thr)
c.7121A>C (p.Lys2374Thr)
c.7841A>C (p.Lys2614Thr)
c.8339A>C (p.Lys2780Thr)
c.5936A>C (p.Lys1979Thr)
2g.237340575T>ACA351195129COL6A3c.986A>T
c.7723A>T (p.Lys2575Ter)
c.344A>T
n.608A>T
c.8341A>T (p.Lys2781Ter)
c.6517A>T (p.Lys2173Ter)
n.28A>T
c.6520A>T (p.Lys2174Ter)
n.4783A>T
c.7741A>T (p.Lys2581Ter)
c.7120A>T (p.Lys2374Ter)
c.7840A>T (p.Lys2614Ter)
c.8338A>T (p.Lys2780Ter)
c.5935A>T (p.Lys1979Ter)
2g.237340575T>CCA351195130COL6A3c.986A>G
c.7723A>G (p.Lys2575Glu)
c.344A>G
n.608A>G
c.8341A>G (p.Lys2781Glu)
c.6517A>G (p.Lys2173Glu)
n.28A>G
c.6520A>G (p.Lys2174Glu)
n.4783A>G
c.7741A>G (p.Lys2581Glu)
c.7120A>G (p.Lys2374Glu)
c.7840A>G (p.Lys2614Glu)
c.8338A>G (p.Lys2780Glu)
c.5935A>G (p.Lys1979Glu)
 ClinVar dbSNP
2g.237340575T>GCA351195132COL6A3c.986A>C
c.7723A>C (p.Lys2575Gln)
c.344A>C
n.608A>C
c.8341A>C (p.Lys2781Gln)
c.6517A>C (p.Lys2173Gln)
n.28A>C
c.6520A>C (p.Lys2174Gln)
n.4783A>C
c.7741A>C (p.Lys2581Gln)
c.7120A>C (p.Lys2374Gln)
c.7840A>C (p.Lys2614Gln)
c.8338A>C (p.Lys2780Gln)
c.5935A>C (p.Lys1979Gln)
2g.237340575T=CA1337608649COL6A3c.986A=
c.7723A= (p.Lys2575=)
c.344A=
n.608A=
c.8341A= (p.Lys2781=)
c.6517A= (p.Lys2173=)
n.28A=
c.6520A= (p.Lys2174=)
n.4783A=
c.7741A= (p.Lys2581=)
c.7120A= (p.Lys2374=)
c.7840A= (p.Lys2614=)
c.8338A= (p.Lys2780=)
c.5935A= (p.Lys1979=)
2g.237340576G>ACA67835560COL6A3c.985C>T
c.7722C>T (p.Ile2574=)
c.343C>T
n.607C>T
c.8340C>T (p.Ile2780=)
c.6516C>T (p.Ile2172=)
n.27C>T
c.6519C>T (p.Ile2173=)
n.4782C>T
c.7740C>T (p.Ile2580=)
c.7119C>T (p.Ile2373=)
c.7839C>T (p.Ile2613=)
c.8337C>T (p.Ile2779=)
c.5934C>T (p.Ile1978=)
 dbSNP gnomAD v3 gnomAD v4
2g.237340576G>CCA351195135COL6A3c.985C>G
c.7722C>G (p.Ile2574Met)
c.343C>G
n.607C>G
c.8340C>G (p.Ile2780Met)
c.6516C>G (p.Ile2172Met)
n.27C>G
c.6519C>G (p.Ile2173Met)
n.4782C>G
c.7740C>G (p.Ile2580Met)
c.7119C>G (p.Ile2373Met)
c.7839C>G (p.Ile2613Met)
c.8337C>G (p.Ile2779Met)
c.5934C>G (p.Ile1978Met)
2g.237340576G=CA1337608652COL6A3c.985C=
c.7722C= (p.Ile2574=)
c.343C=
n.607C=
c.8340C= (p.Ile2780=)
c.6516C= (p.Ile2172=)
n.27C=
c.6519C= (p.Ile2173=)
n.4782C=
c.7740C= (p.Ile2580=)
c.7119C= (p.Ile2373=)
c.7839C= (p.Ile2613=)
c.8337C= (p.Ile2779=)
c.5934C= (p.Ile1978=)
2g.237340576G>TCA431701616COL6A3c.985C>A
c.7722C>A (p.Ile2574=)
c.343C>A
n.607C>A
c.8340C>A (p.Ile2780=)
c.6516C>A (p.Ile2172=)
n.27C>A
c.6519C>A (p.Ile2173=)
n.4782C>A
c.7740C>A (p.Ile2580=)
c.7119C>A (p.Ile2373=)
c.7839C>A (p.Ile2613=)
c.8337C>A (p.Ile2779=)
c.5934C>A (p.Ile1978=)
2g.237340577A>CCA351195137COL6A3c.984T>G
c.7721T>G (p.Ile2574Ser)
c.342T>G
n.606T>G
c.8339T>G (p.Ile2780Ser)
c.6515T>G (p.Ile2172Ser)
n.26T>G
c.6518T>G (p.Ile2173Ser)
n.4781T>G
c.7739T>G (p.Ile2580Ser)
c.7118T>G (p.Ile2373Ser)
c.7838T>G (p.Ile2613Ser)
c.8336T>G (p.Ile2779Ser)
c.5933T>G (p.Ile1978Ser)
2g.237340577A>GCA351195141COL6A3c.984T>C
c.7721T>C (p.Ile2574Thr)
c.342T>C
n.606T>C
c.8339T>C (p.Ile2780Thr)
c.6515T>C (p.Ile2172Thr)
n.26T>C
c.6518T>C (p.Ile2173Thr)
n.4781T>C
c.7739T>C (p.Ile2580Thr)
c.7118T>C (p.Ile2373Thr)
c.7838T>C (p.Ile2613Thr)
c.8336T>C (p.Ile2779Thr)
c.5933T>C (p.Ile1978Thr)
2g.237340577A>TCA351195139COL6A3c.984T>A
c.7721T>A (p.Ile2574Asn)
c.342T>A
n.606T>A
c.8339T>A (p.Ile2780Asn)
c.6515T>A (p.Ile2172Asn)
n.26T>A
c.6518T>A (p.Ile2173Asn)
n.4781T>A
c.7739T>A (p.Ile2580Asn)
c.7118T>A (p.Ile2373Asn)
c.7838T>A (p.Ile2613Asn)
c.8336T>A (p.Ile2779Asn)
c.5933T>A (p.Ile1978Asn)
2g.237340578T>ACA351195143COL6A3c.983A>T
c.7720A>T (p.Ile2574Phe)
c.341A>T
n.605A>T
c.8338A>T (p.Ile2780Phe)
c.6514A>T (p.Ile2172Phe)
n.25A>T
c.6517A>T (p.Ile2173Phe)
n.4780A>T
c.7738A>T (p.Ile2580Phe)
c.7117A>T (p.Ile2373Phe)
c.7837A>T (p.Ile2613Phe)
c.8335A>T (p.Ile2779Phe)
c.5932A>T (p.Ile1978Phe)
2g.237340578T>CCA351195145COL6A3c.983A>G
c.7720A>G (p.Ile2574Val)
c.341A>G
n.605A>G
c.8338A>G (p.Ile2780Val)
c.6514A>G (p.Ile2172Val)
n.25A>G
c.6517A>G (p.Ile2173Val)
n.4780A>G
c.7738A>G (p.Ile2580Val)
c.7117A>G (p.Ile2373Val)
c.7837A>G (p.Ile2613Val)
c.8335A>G (p.Ile2779Val)
c.5932A>G (p.Ile1978Val)
 dbSNP gnomAD v3 gnomAD v4
2g.237340578T>GCA351195147COL6A3c.983A>C
c.7720A>C (p.Ile2574Leu)
c.341A>C
n.605A>C
c.8338A>C (p.Ile2780Leu)
c.6514A>C (p.Ile2172Leu)
n.25A>C
c.6517A>C (p.Ile2173Leu)
n.4780A>C
c.7738A>C (p.Ile2580Leu)
c.7117A>C (p.Ile2373Leu)
c.7837A>C (p.Ile2613Leu)
c.8335A>C (p.Ile2779Leu)
c.5932A>C (p.Ile1978Leu)
2g.237340578T=CA1337608654COL6A3c.983A=
c.7720A= (p.Ile2574=)
c.341A=
n.605A=
c.8338A= (p.Ile2780=)
c.6514A= (p.Ile2172=)
n.25A=
c.6517A= (p.Ile2173=)
n.4780A=
c.7738A= (p.Ile2580=)
c.7117A= (p.Ile2373=)
c.7837A= (p.Ile2613=)
c.8335A= (p.Ile2779=)
c.5932A= (p.Ile1978=)
2g.237340579G>ACA431701650COL6A3c.982C>T
c.7719C>T (p.Asn2573=)
c.340C>T
n.604C>T
c.8337C>T (p.Asn2779=)
c.6513C>T (p.Asn2171=)
n.24C>T
c.6516C>T (p.Asn2172=)
n.4779C>T
c.7737C>T (p.Asn2579=)
c.7116C>T (p.Asn2372=)
c.7836C>T (p.Asn2612=)
c.8334C>T (p.Asn2778=)
c.5931C>T (p.Asn1977=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237340579G>CCA351195149COL6A3c.982C>G
c.7719C>G (p.Asn2573Lys)
c.340C>G
n.604C>G
c.8337C>G (p.Asn2779Lys)
c.6513C>G (p.Asn2171Lys)
n.24C>G
c.6516C>G (p.Asn2172Lys)
n.4779C>G
c.7737C>G (p.Asn2579Lys)
c.7116C>G (p.Asn2372Lys)
c.7836C>G (p.Asn2612Lys)
c.8334C>G (p.Asn2778Lys)
c.5931C>G (p.Asn1977Lys)
2g.237340579G=CA1337608658COL6A3c.982C=
c.7719C= (p.Asn2573=)
c.340C=
n.604C=
c.8337C= (p.Asn2779=)
c.6513C= (p.Asn2171=)
n.24C=
c.6516C= (p.Asn2172=)
n.4779C=
c.7737C= (p.Asn2579=)
c.7116C= (p.Asn2372=)
c.7836C= (p.Asn2612=)
c.8334C= (p.Asn2778=)
c.5931C= (p.Asn1977=)
2g.237340579G>TCA351195151COL6A3c.982C>A
c.7719C>A (p.Asn2573Lys)
c.340C>A
n.604C>A
c.8337C>A (p.Asn2779Lys)
c.6513C>A (p.Asn2171Lys)
n.24C>A
c.6516C>A (p.Asn2172Lys)
n.4779C>A
c.7737C>A (p.Asn2579Lys)
c.7116C>A (p.Asn2372Lys)
c.7836C>A (p.Asn2612Lys)
c.8334C>A (p.Asn2778Lys)
c.5931C>A (p.Asn1977Lys)
 ClinVar dbSNP
2g.237340580T>ACA351195158COL6A3c.981A>T
c.7718A>T (p.Asn2573Ile)
c.339A>T
n.603A>T
c.8336A>T (p.Asn2779Ile)
c.6512A>T (p.Asn2171Ile)
n.23A>T
c.6515A>T (p.Asn2172Ile)
n.4778A>T
c.7736A>T (p.Asn2579Ile)
c.7115A>T (p.Asn2372Ile)
c.7835A>T (p.Asn2612Ile)
c.8333A>T (p.Asn2778Ile)
c.5930A>T (p.Asn1977Ile)
2g.237340580T>CCA351195159COL6A3c.981A>G
c.7718A>G (p.Asn2573Ser)
c.339A>G
n.603A>G
c.8336A>G (p.Asn2779Ser)
c.6512A>G (p.Asn2171Ser)
n.23A>G
c.6515A>G (p.Asn2172Ser)
n.4778A>G
c.7736A>G (p.Asn2579Ser)
c.7115A>G (p.Asn2372Ser)
c.7835A>G (p.Asn2612Ser)
c.8333A>G (p.Asn2778Ser)
c.5930A>G (p.Asn1977Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237340580T>GCA351195162COL6A3c.981A>C
c.7718A>C (p.Asn2573Thr)
c.339A>C
n.603A>C
c.8336A>C (p.Asn2779Thr)
c.6512A>C (p.Asn2171Thr)
n.23A>C
c.6515A>C (p.Asn2172Thr)
n.4778A>C
c.7736A>C (p.Asn2579Thr)
c.7115A>C (p.Asn2372Thr)
c.7835A>C (p.Asn2612Thr)
c.8333A>C (p.Asn2778Thr)
c.5930A>C (p.Asn1977Thr)
 gnomAD v4
2g.237340580T=CA1337608665COL6A3c.981A=
c.7718A= (p.Asn2573=)
c.339A=
n.603A=
c.8336A= (p.Asn2779=)
c.6512A= (p.Asn2171=)
n.23A=
c.6515A= (p.Asn2172=)
n.4778A=
c.7736A= (p.Asn2579=)
c.7115A= (p.Asn2372=)
c.7835A= (p.Asn2612=)
c.8333A= (p.Asn2778=)
c.5930A= (p.Asn1977=)
2g.237340581T>ACA351195164COL6A3c.980A>T
c.7717A>T (p.Asn2573Tyr)
c.338A>T
n.602A>T
c.8335A>T (p.Asn2779Tyr)
c.6511A>T (p.Asn2171Tyr)
n.22A>T
c.6514A>T (p.Asn2172Tyr)
n.4777A>T
c.7735A>T (p.Asn2579Tyr)
c.7114A>T (p.Asn2372Tyr)
c.7834A>T (p.Asn2612Tyr)
c.8332A>T (p.Asn2778Tyr)
c.5929A>T (p.Asn1977Tyr)
2g.237340581T>CCA351195166COL6A3c.980A>G
c.7717A>G (p.Asn2573Asp)
c.338A>G
n.602A>G
c.8335A>G (p.Asn2779Asp)
c.6511A>G (p.Asn2171Asp)
n.22A>G
c.6514A>G (p.Asn2172Asp)
n.4777A>G
c.7735A>G (p.Asn2579Asp)
c.7114A>G (p.Asn2372Asp)
c.7834A>G (p.Asn2612Asp)
c.8332A>G (p.Asn2778Asp)
c.5929A>G (p.Asn1977Asp)
2g.237340581T>GCA351195168COL6A3c.980A>C
c.7717A>C (p.Asn2573His)
c.338A>C
n.602A>C
c.8335A>C (p.Asn2779His)
c.6511A>C (p.Asn2171His)
n.22A>C
c.6514A>C (p.Asn2172His)
n.4777A>C
c.7735A>C (p.Asn2579His)
c.7114A>C (p.Asn2372His)
c.7834A>C (p.Asn2612His)
c.8332A>C (p.Asn2778His)
c.5929A>C (p.Asn1977His)
2g.237340582C>ACA431701660COL6A3c.979G>T
c.7716G>T (p.Val2572=)
c.337G>T
n.601G>T
c.8334G>T (p.Val2778=)
c.6510G>T (p.Val2170=)
n.21G>T
c.6513G>T (p.Val2171=)
n.4776G>T
c.7734G>T (p.Val2578=)
c.7113G>T (p.Val2371=)
c.7833G>T (p.Val2611=)
c.8331G>T (p.Val2777=)
c.5928G>T (p.Val1976=)
2g.237340582C=CA1337608669COL6A3c.979G=
c.7716G= (p.Val2572=)
c.337G=
n.601G=
c.8334G= (p.Val2778=)
c.6510G= (p.Val2170=)
n.21G=
c.6513G= (p.Val2171=)
n.4776G=
c.7734G= (p.Val2578=)
c.7113G= (p.Val2371=)
c.7833G= (p.Val2611=)
c.8331G= (p.Val2777=)
c.5928G= (p.Val1976=)
2g.237340582C>GCA431701662COL6A3c.979G>C
c.7716G>C (p.Val2572=)
c.337G>C
n.601G>C
c.8334G>C (p.Val2778=)
c.6510G>C (p.Val2170=)
n.21G>C
c.6513G>C (p.Val2171=)
n.4776G>C
c.7734G>C (p.Val2578=)
c.7113G>C (p.Val2371=)
c.7833G>C (p.Val2611=)
c.8331G>C (p.Val2777=)
c.5928G>C (p.Val1976=)
2g.237340582C>TCA431701664COL6A3c.979G>A
c.7716G>A (p.Val2572=)
c.337G>A
n.601G>A
c.8334G>A (p.Val2778=)
c.6510G>A (p.Val2170=)
n.21G>A
c.6513G>A (p.Val2171=)
n.4776G>A
c.7734G>A (p.Val2578=)
c.7113G>A (p.Val2371=)
c.7833G>A (p.Val2611=)
c.8331G>A (p.Val2777=)
c.5928G>A (p.Val1976=)
 dbSNP gnomAD v2 gnomAD v4
2g.237340583A=CA1337608672COL6A3c.978T=
c.7715T= (p.Val2572=)
c.336T=
n.600T=
c.8333T= (p.Val2778=)
c.6509T= (p.Val2170=)
n.20T=
c.6512T= (p.Val2171=)
n.4775T=
c.7733T= (p.Val2578=)
c.7112T= (p.Val2371=)
c.7832T= (p.Val2611=)
c.8330T= (p.Val2777=)
c.5927T= (p.Val1976=)
2g.237340583A>CCA351195174COL6A3c.978T>G
c.7715T>G (p.Val2572Gly)
c.336T>G
n.600T>G
c.8333T>G (p.Val2778Gly)
c.6509T>G (p.Val2170Gly)
n.20T>G
c.6512T>G (p.Val2171Gly)
n.4775T>G
c.7733T>G (p.Val2578Gly)
c.7112T>G (p.Val2371Gly)
c.7832T>G (p.Val2611Gly)
c.8330T>G (p.Val2777Gly)
c.5927T>G (p.Val1976Gly)
 dbSNP
2g.237340583A>GCA351195172COL6A3c.978T>C
c.7715T>C (p.Val2572Ala)
c.336T>C
n.600T>C
c.8333T>C (p.Val2778Ala)
c.6509T>C (p.Val2170Ala)
n.20T>C
c.6512T>C (p.Val2171Ala)
n.4775T>C
c.7733T>C (p.Val2578Ala)
c.7112T>C (p.Val2371Ala)
c.7832T>C (p.Val2611Ala)
c.8330T>C (p.Val2777Ala)
c.5927T>C (p.Val1976Ala)
 COSMIC
2g.237340583A>TCA351195170COL6A3c.978T>A
c.7715T>A (p.Val2572Glu)
c.336T>A
n.600T>A
c.8333T>A (p.Val2778Glu)
c.6509T>A (p.Val2170Glu)
n.20T>A
c.6512T>A (p.Val2171Glu)
n.4775T>A
c.7733T>A (p.Val2578Glu)
c.7112T>A (p.Val2371Glu)
c.7832T>A (p.Val2611Glu)
c.8330T>A (p.Val2777Glu)
c.5927T>A (p.Val1976Glu)
2g.237340584C>ACA351195176COL6A3c.977G>T
c.7714G>T (p.Val2572Leu)
c.335G>T
n.599G>T
c.8332G>T (p.Val2778Leu)
c.6508G>T (p.Val2170Leu)
n.19G>T
c.6511G>T (p.Val2171Leu)
n.4774G>T
c.7732G>T (p.Val2578Leu)
c.7111G>T (p.Val2371Leu)
c.7831G>T (p.Val2611Leu)
c.8329G>T (p.Val2777Leu)
c.5926G>T (p.Val1976Leu)
2g.237340584C>GCA351195178COL6A3c.977G>C
c.7714G>C (p.Val2572Leu)
c.335G>C
n.599G>C
c.8332G>C (p.Val2778Leu)
c.6508G>C (p.Val2170Leu)
n.19G>C
c.6511G>C (p.Val2171Leu)
n.4774G>C
c.7732G>C (p.Val2578Leu)
c.7111G>C (p.Val2371Leu)
c.7831G>C (p.Val2611Leu)
c.8329G>C (p.Val2777Leu)
c.5926G>C (p.Val1976Leu)
2g.237340584C>TCA351195179COL6A3c.977G>A
c.7714G>A (p.Val2572Met)
c.335G>A
n.599G>A
c.8332G>A (p.Val2778Met)
c.6508G>A (p.Val2170Met)
n.19G>A
c.6511G>A (p.Val2171Met)
n.4774G>A
c.7732G>A (p.Val2578Met)
c.7111G>A (p.Val2371Met)
c.7831G>A (p.Val2611Met)
c.8329G>A (p.Val2777Met)
c.5926G>A (p.Val1976Met)
 COSMIC
2g.237340585C>ACA351195180COL6A3c.976G>T
c.7713G>T (p.Lys2571Asn)
c.334G>T
n.598G>T
c.8331G>T (p.Lys2777Asn)
c.6507G>T (p.Lys2169Asn)
n.18G>T
c.6510G>T (p.Lys2170Asn)
n.4773G>T
c.7731G>T (p.Lys2577Asn)
c.7110G>T (p.Lys2370Asn)
c.7830G>T (p.Lys2610Asn)
c.8328G>T (p.Lys2776Asn)
c.5925G>T (p.Lys1975Asn)
2g.237340585C>GCA351195181COL6A3c.976G>C
c.7713G>C (p.Lys2571Asn)
c.334G>C
n.598G>C
c.8331G>C (p.Lys2777Asn)
c.6507G>C (p.Lys2169Asn)
n.18G>C
c.6510G>C (p.Lys2170Asn)
n.4773G>C
c.7731G>C (p.Lys2577Asn)
c.7110G>C (p.Lys2370Asn)
c.7830G>C (p.Lys2610Asn)
c.8328G>C (p.Lys2776Asn)
c.5925G>C (p.Lys1975Asn)
2g.237340585C>TCA431701693COL6A3c.976G>A
c.7713G>A (p.Lys2571=)
c.334G>A
n.598G>A
c.8331G>A (p.Lys2777=)
c.6507G>A (p.Lys2169=)
n.18G>A
c.6510G>A (p.Lys2170=)
n.4773G>A
c.7731G>A (p.Lys2577=)
c.7110G>A (p.Lys2370=)
c.7830G>A (p.Lys2610=)
c.8328G>A (p.Lys2776=)
c.5925G>A (p.Lys1975=)
2g.237340586T>ACA351195183COL6A3c.975A>T
c.7712A>T (p.Lys2571Met)
c.333A>T
n.597A>T
c.8330A>T (p.Lys2777Met)
c.6506A>T (p.Lys2169Met)
n.17A>T
c.6509A>T (p.Lys2170Met)
n.4772A>T
c.7730A>T (p.Lys2577Met)
c.7109A>T (p.Lys2370Met)
c.7829A>T (p.Lys2610Met)
c.8327A>T (p.Lys2776Met)
c.5924A>T (p.Lys1975Met)
2g.237340586T>CCA351195185COL6A3c.975A>G
c.7712A>G (p.Lys2571Arg)
c.333A>G
n.597A>G
c.8330A>G (p.Lys2777Arg)
c.6506A>G (p.Lys2169Arg)
n.17A>G
c.6509A>G (p.Lys2170Arg)
n.4772A>G
c.7730A>G (p.Lys2577Arg)
c.7109A>G (p.Lys2370Arg)
c.7829A>G (p.Lys2610Arg)
c.8327A>G (p.Lys2776Arg)
c.5924A>G (p.Lys1975Arg)
2g.237340586T>GCA351195186COL6A3c.975A>C
c.7712A>C (p.Lys2571Thr)
c.333A>C
n.597A>C
c.8330A>C (p.Lys2777Thr)
c.6506A>C (p.Lys2169Thr)
n.17A>C
c.6509A>C (p.Lys2170Thr)
n.4772A>C
c.7730A>C (p.Lys2577Thr)
c.7109A>C (p.Lys2370Thr)
c.7829A>C (p.Lys2610Thr)
c.8327A>C (p.Lys2776Thr)
c.5924A>C (p.Lys1975Thr)
2g.237340587T>ACA351195188COL6A3c.974A>T
c.7711A>T (p.Lys2571Ter)
c.332A>T
n.596A>T
c.8329A>T (p.Lys2777Ter)
c.6505A>T (p.Lys2169Ter)
n.16A>T
c.6508A>T (p.Lys2170Ter)
n.4771A>T
c.7729A>T (p.Lys2577Ter)
c.7108A>T (p.Lys2370Ter)
c.7828A>T (p.Lys2610Ter)
c.8326A>T (p.Lys2776Ter)
c.5923A>T (p.Lys1975Ter)
2g.237340587T>CCA351195190COL6A3c.974A>G
c.7711A>G (p.Lys2571Glu)
c.332A>G
n.596A>G
c.8329A>G (p.Lys2777Glu)
c.6505A>G (p.Lys2169Glu)
n.16A>G
c.6508A>G (p.Lys2170Glu)
n.4771A>G
c.7729A>G (p.Lys2577Glu)
c.7108A>G (p.Lys2370Glu)
c.7828A>G (p.Lys2610Glu)
c.8326A>G (p.Lys2776Glu)
c.5923A>G (p.Lys1975Glu)
2g.237340587T>GCA351195192COL6A3c.974A>C
c.7711A>C (p.Lys2571Gln)
c.332A>C
n.596A>C
c.8329A>C (p.Lys2777Gln)
c.6505A>C (p.Lys2169Gln)
n.16A>C
c.6508A>C (p.Lys2170Gln)
n.4771A>C
c.7729A>C (p.Lys2577Gln)
c.7108A>C (p.Lys2370Gln)
c.7828A>C (p.Lys2610Gln)
c.8326A>C (p.Lys2776Gln)
c.5923A>C (p.Lys1975Gln)
2g.237340588C>ACA351195194COL6A3c.973G>T
c.7710G>T (p.Arg2570Ser)
c.331G>T
n.595G>T
c.8328G>T (p.Arg2776Ser)
c.6504G>T (p.Arg2168Ser)
n.15G>T
c.6507G>T (p.Arg2169Ser)
n.4770G>T
c.7728G>T (p.Arg2576Ser)
c.7107G>T (p.Arg2369Ser)
c.7827G>T (p.Arg2609Ser)
c.8325G>T (p.Arg2775Ser)
c.5922G>T (p.Arg1974Ser)
2g.237340588C=CA1337608674COL6A3c.973G=
c.7710G= (p.Arg2570=)
c.331G=
n.595G=
c.8328G= (p.Arg2776=)
c.6504G= (p.Arg2168=)
n.15G=
c.6507G= (p.Arg2169=)
n.4770G=
c.7728G= (p.Arg2576=)
c.7107G= (p.Arg2369=)
c.7827G= (p.Arg2609=)
c.8325G= (p.Arg2775=)
c.5922G= (p.Arg1974=)
2g.237340588C>GCA351195195COL6A3c.973G>C
c.7710G>C (p.Arg2570Ser)
c.331G>C
n.595G>C
c.8328G>C (p.Arg2776Ser)
c.6504G>C (p.Arg2168Ser)
n.15G>C
c.6507G>C (p.Arg2169Ser)
n.4770G>C
c.7728G>C (p.Arg2576Ser)
c.7107G>C (p.Arg2369Ser)
c.7827G>C (p.Arg2609Ser)
c.8325G>C (p.Arg2775Ser)
c.5922G>C (p.Arg1974Ser)
2g.237340588C>TCA431701721COL6A3c.973G>A
c.7710G>A (p.Arg2570=)
c.331G>A
n.595G>A
c.8328G>A (p.Arg2776=)
c.6504G>A (p.Arg2168=)
n.15G>A
c.6507G>A (p.Arg2169=)
n.4770G>A
c.7728G>A (p.Arg2576=)
c.7107G>A (p.Arg2369=)
c.7827G>A (p.Arg2609=)
c.8325G>A (p.Arg2775=)
c.5922G>A (p.Arg1974=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.237340589C>ACA351195204COL6A3c.972G>T
c.7709G>T (p.Arg2570Met)
c.330G>T
n.594G>T
c.8327G>T (p.Arg2776Met)
c.6503G>T (p.Arg2168Met)
n.14G>T
c.6506G>T (p.Arg2169Met)
n.4769G>T
c.7727G>T (p.Arg2576Met)
c.7106G>T (p.Arg2369Met)
c.7826G>T (p.Arg2609Met)
c.8324G>T (p.Arg2775Met)
c.5921G>T (p.Arg1974Met)
2g.237340589C=CA1337608679COL6A3c.972G=
c.7709G= (p.Arg2570=)
c.330G=
n.594G=
c.8327G= (p.Arg2776=)
c.6503G= (p.Arg2168=)
n.14G=
c.6506G= (p.Arg2169=)
n.4769G=
c.7727G= (p.Arg2576=)
c.7106G= (p.Arg2369=)
c.7826G= (p.Arg2609=)
c.8324G= (p.Arg2775=)
c.5921G= (p.Arg1974=)
2g.237340589C>GCA351195203COL6A3c.972G>C
c.7709G>C (p.Arg2570Thr)
c.330G>C
n.594G>C
c.8327G>C (p.Arg2776Thr)
c.6503G>C (p.Arg2168Thr)
n.14G>C
c.6506G>C (p.Arg2169Thr)
n.4769G>C
c.7727G>C (p.Arg2576Thr)
c.7106G>C (p.Arg2369Thr)
c.7826G>C (p.Arg2609Thr)
c.8324G>C (p.Arg2775Thr)
c.5921G>C (p.Arg1974Thr)
2g.237340589C>TCA351195198COL6A3c.972G>A
c.7709G>A (p.Arg2570Lys)
c.330G>A
n.594G>A
c.8327G>A (p.Arg2776Lys)
c.6503G>A (p.Arg2168Lys)
n.14G>A
c.6506G>A (p.Arg2169Lys)
n.4769G>A
c.7727G>A (p.Arg2576Lys)
c.7106G>A (p.Arg2369Lys)
c.7826G>A (p.Arg2609Lys)
c.8324G>A (p.Arg2775Lys)
c.5921G>A (p.Arg1974Lys)
 ClinVar dbSNP gnomAD v4
2g.237340590T>ACA351195209COL6A3c.971A>T
c.7708A>T (p.Arg2570Trp)
c.329A>T
n.593A>T
c.8326A>T (p.Arg2776Trp)
c.6502A>T (p.Arg2168Trp)
n.13A>T
c.6505A>T (p.Arg2169Trp)
n.4768A>T
c.7726A>T (p.Arg2576Trp)
c.7105A>T (p.Arg2369Trp)
c.7825A>T (p.Arg2609Trp)
c.8323A>T (p.Arg2775Trp)
c.5920A>T (p.Arg1974Trp)
2g.237340590T>CCA351195207COL6A3c.971A>G
c.7708A>G (p.Arg2570Gly)
c.329A>G
n.593A>G
c.8326A>G (p.Arg2776Gly)
c.6502A>G (p.Arg2168Gly)
n.13A>G
c.6505A>G (p.Arg2169Gly)
n.4768A>G
c.7726A>G (p.Arg2576Gly)
c.7105A>G (p.Arg2369Gly)
c.7825A>G (p.Arg2609Gly)
c.8323A>G (p.Arg2775Gly)
c.5920A>G (p.Arg1974Gly)
2g.237340590T>GCA431701749COL6A3c.971A>C
c.7708A>C (p.Arg2570=)
c.329A>C
n.593A>C
c.8326A>C (p.Arg2776=)
c.6502A>C (p.Arg2168=)
n.13A>C
c.6505A>C (p.Arg2169=)
n.4768A>C
c.7726A>C (p.Arg2576=)
c.7105A>C (p.Arg2369=)
c.7825A>C (p.Arg2609=)
c.8323A>C (p.Arg2775=)
c.5920A>C (p.Arg1974=)
2g.237340591G>ACA431701755COL6A3c.970C>T
c.7707C>T (p.Gly2569=)
c.328C>T
n.592C>T
c.8325C>T (p.Gly2775=)
c.6501C>T (p.Gly2167=)
n.12C>T
c.6504C>T (p.Gly2168=)
n.4767C>T
c.7725C>T (p.Gly2575=)
c.7104C>T (p.Gly2368=)
c.7824C>T (p.Gly2608=)
c.8322C>T (p.Gly2774=)
c.5919C>T (p.Gly1973=)
 gnomAD v4
2g.237340591G>CCA431701757COL6A3c.970C>G
c.7707C>G (p.Gly2569=)
c.328C>G
n.592C>G
c.8325C>G (p.Gly2775=)
c.6501C>G (p.Gly2167=)
n.12C>G
c.6504C>G (p.Gly2168=)
n.4767C>G
c.7725C>G (p.Gly2575=)
c.7104C>G (p.Gly2368=)
c.7824C>G (p.Gly2608=)
c.8322C>G (p.Gly2774=)
c.5919C>G (p.Gly1973=)
2g.237340591G>TCA431701760COL6A3c.970C>A
c.7707C>A (p.Gly2569=)
c.328C>A
n.592C>A
c.8325C>A (p.Gly2775=)
c.6501C>A (p.Gly2167=)
n.12C>A
c.6504C>A (p.Gly2168=)
n.4767C>A
c.7725C>A (p.Gly2575=)
c.7104C>A (p.Gly2368=)
c.7824C>A (p.Gly2608=)
c.8322C>A (p.Gly2774=)
c.5919C>A (p.Gly1973=)
2g.237340592C>ACA351195211COL6A3c.969G>T
c.7706G>T (p.Gly2569Val)
c.327G>T
n.591G>T
c.8324G>T (p.Gly2775Val)
c.6500G>T (p.Gly2167Val)
n.11G>T
c.6503G>T (p.Gly2168Val)
n.4766G>T
c.7724G>T (p.Gly2575Val)
c.7103G>T (p.Gly2368Val)
c.7823G>T (p.Gly2608Val)
c.8321G>T (p.Gly2774Val)
c.5918G>T (p.Gly1973Val)
2g.237340592C>GCA351195212COL6A3c.969G>C
c.7706G>C (p.Gly2569Ala)
c.327G>C
n.591G>C
c.8324G>C (p.Gly2775Ala)
c.6500G>C (p.Gly2167Ala)
n.11G>C
c.6503G>C (p.Gly2168Ala)
n.4766G>C
c.7724G>C (p.Gly2575Ala)
c.7103G>C (p.Gly2368Ala)
c.7823G>C (p.Gly2608Ala)
c.8321G>C (p.Gly2774Ala)
c.5918G>C (p.Gly1973Ala)
2g.237340592C>TCA351195213COL6A3c.969G>A
c.7706G>A (p.Gly2569Asp)
c.327G>A
n.591G>A
c.8324G>A (p.Gly2775Asp)
c.6500G>A (p.Gly2167Asp)
n.11G>A
c.6503G>A (p.Gly2168Asp)
n.4766G>A
c.7724G>A (p.Gly2575Asp)
c.7103G>A (p.Gly2368Asp)
c.7823G>A (p.Gly2608Asp)
c.8321G>A (p.Gly2774Asp)
c.5918G>A (p.Gly1973Asp)
2g.237340593C>ACA2187575COL6A3c.968G>T
c.7705G>T (p.Gly2569Cys)
c.326G>T
n.590G>T
c.8323G>T (p.Gly2775Cys)
c.6499G>T (p.Gly2167Cys)
n.10G>T
c.6502G>T (p.Gly2168Cys)
n.4765G>T
c.7723G>T (p.Gly2575Cys)
c.7102G>T (p.Gly2368Cys)
c.7822G>T (p.Gly2608Cys)
c.8320G>T (p.Gly2774Cys)
c.5917G>T (p.Gly1973Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340593C=CA1337608683COL6A3c.968G=
c.7705G= (p.Gly2569=)
c.326G=
n.590G=
c.8323G= (p.Gly2775=)
c.6499G= (p.Gly2167=)
n.10G=
c.6502G= (p.Gly2168=)
n.4765G=
c.7723G= (p.Gly2575=)
c.7102G= (p.Gly2368=)
c.7822G= (p.Gly2608=)
c.8320G= (p.Gly2774=)
c.5917G= (p.Gly1973=)
2g.237340593C>GCA351195214COL6A3c.968G>C
c.7705G>C (p.Gly2569Arg)
c.326G>C
n.590G>C
c.8323G>C (p.Gly2775Arg)
c.6499G>C (p.Gly2167Arg)
n.10G>C
c.6502G>C (p.Gly2168Arg)
n.4765G>C
c.7723G>C (p.Gly2575Arg)
c.7102G>C (p.Gly2368Arg)
c.7822G>C (p.Gly2608Arg)
c.8320G>C (p.Gly2774Arg)
c.5917G>C (p.Gly1973Arg)
2g.237340593C>TCA351195215COL6A3c.968G>A
c.7705G>A (p.Gly2569Ser)
c.326G>A
n.590G>A
c.8323G>A (p.Gly2775Ser)
c.6499G>A (p.Gly2167Ser)
n.10G>A
c.6502G>A (p.Gly2168Ser)
n.4765G>A
c.7723G>A (p.Gly2575Ser)
c.7102G>A (p.Gly2368Ser)
c.7822G>A (p.Gly2608Ser)
c.8320G>A (p.Gly2774Ser)
c.5917G>A (p.Gly1973Ser)
 dbSNP
2g.237340594A>CCA351195216COL6A3c.967T>G
c.7704T>G (p.Ile2568Met)
c.325T>G
n.589T>G
c.8322T>G (p.Ile2774Met)
c.6498T>G (p.Ile2166Met)
n.9T>G
c.6501T>G (p.Ile2167Met)
n.4764T>G
c.7722T>G (p.Ile2574Met)
c.7101T>G (p.Ile2367Met)
c.7821T>G (p.Ile2607Met)
c.8319T>G (p.Ile2773Met)
c.5916T>G (p.Ile1972Met)
2g.237340594A>GCA431701800COL6A3c.967T>C
c.7704T>C (p.Ile2568=)
c.325T>C
n.589T>C
c.8322T>C (p.Ile2774=)
c.6498T>C (p.Ile2166=)
n.9T>C
c.6501T>C (p.Ile2167=)
n.4764T>C
c.7722T>C (p.Ile2574=)
c.7101T>C (p.Ile2367=)
c.7821T>C (p.Ile2607=)
c.8319T>C (p.Ile2773=)
c.5916T>C (p.Ile1972=)
2g.237340594A>TCA431701799COL6A3c.967T>A
c.7704T>A (p.Ile2568=)
c.325T>A
n.589T>A
c.8322T>A (p.Ile2774=)
c.6498T>A (p.Ile2166=)
n.9T>A
c.6501T>A (p.Ile2167=)
n.4764T>A
c.7722T>A (p.Ile2574=)
c.7101T>A (p.Ile2367=)
c.7821T>A (p.Ile2607=)
c.8319T>A (p.Ile2773=)
c.5916T>A (p.Ile1972=)

Number of alleles fetched