Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237336256C>ACA351191264COL6A3c.1489G>T
c.8226G>T (p.Lys2742Asn)
c.971G>T
n.1111G>T
c.8844G>T (p.Lys2948Asn)
c.7020G>T (p.Lys2340Asn)
c.7023G>T (p.Lys2341Asn)
n.5286G>T
c.8244G>T (p.Lys2748Asn)
c.7623G>T (p.Lys2541Asn)
c.8343G>T (p.Lys2781Asn)
c.8841G>T (p.Lys2947Asn)
c.6438G>T (p.Lys2146Asn)
2g.237336256C>GCA351191266COL6A3c.1489G>C
c.8226G>C (p.Lys2742Asn)
c.971G>C
n.1111G>C
c.8844G>C (p.Lys2948Asn)
c.7020G>C (p.Lys2340Asn)
c.7023G>C (p.Lys2341Asn)
n.5286G>C
c.8244G>C (p.Lys2748Asn)
c.7623G>C (p.Lys2541Asn)
c.8343G>C (p.Lys2781Asn)
c.8841G>C (p.Lys2947Asn)
c.6438G>C (p.Lys2146Asn)
2g.237336256C>TCA431701214COL6A3c.1489G>A
c.8226G>A (p.Lys2742=)
c.971G>A
n.1111G>A
c.8844G>A (p.Lys2948=)
c.7020G>A (p.Lys2340=)
c.7023G>A (p.Lys2341=)
n.5286G>A
c.8244G>A (p.Lys2748=)
c.7623G>A (p.Lys2541=)
c.8343G>A (p.Lys2781=)
c.8841G>A (p.Lys2947=)
c.6438G>A (p.Lys2146=)
2g.237336257T>ACA351191269COL6A3c.1488A>T
c.8225A>T (p.Lys2742Met)
c.970A>T
n.1110A>T
c.8843A>T (p.Lys2948Met)
c.7019A>T (p.Lys2340Met)
c.7022A>T (p.Lys2341Met)
n.5285A>T
c.8243A>T (p.Lys2748Met)
c.7622A>T (p.Lys2541Met)
c.8342A>T (p.Lys2781Met)
c.8840A>T (p.Lys2947Met)
c.6437A>T (p.Lys2146Met)
2g.237336257T>CCA351191271COL6A3c.1488A>G
c.8225A>G (p.Lys2742Arg)
c.970A>G
n.1110A>G
c.8843A>G (p.Lys2948Arg)
c.7019A>G (p.Lys2340Arg)
c.7022A>G (p.Lys2341Arg)
n.5285A>G
c.8243A>G (p.Lys2748Arg)
c.7622A>G (p.Lys2541Arg)
c.8342A>G (p.Lys2781Arg)
c.8840A>G (p.Lys2947Arg)
c.6437A>G (p.Lys2146Arg)
2g.237336257T>GCA351191273COL6A3c.1488A>C
c.8225A>C (p.Lys2742Thr)
c.970A>C
n.1110A>C
c.8843A>C (p.Lys2948Thr)
c.7019A>C (p.Lys2340Thr)
c.7022A>C (p.Lys2341Thr)
n.5285A>C
c.8243A>C (p.Lys2748Thr)
c.7622A>C (p.Lys2541Thr)
c.8342A>C (p.Lys2781Thr)
c.8840A>C (p.Lys2947Thr)
c.6437A>C (p.Lys2146Thr)
2g.237336258T>ACA351191276COL6A3c.1487A>T
c.8224A>T (p.Lys2742Ter)
c.969A>T
n.1109A>T
c.8842A>T (p.Lys2948Ter)
c.7018A>T (p.Lys2340Ter)
c.7021A>T (p.Lys2341Ter)
n.5284A>T
c.8242A>T (p.Lys2748Ter)
c.7621A>T (p.Lys2541Ter)
c.8341A>T (p.Lys2781Ter)
c.8839A>T (p.Lys2947Ter)
c.6436A>T (p.Lys2146Ter)
2g.237336258T>CCA351191278COL6A3c.1487A>G
c.8224A>G (p.Lys2742Glu)
c.969A>G
n.1109A>G
c.8842A>G (p.Lys2948Glu)
c.7018A>G (p.Lys2340Glu)
c.7021A>G (p.Lys2341Glu)
n.5284A>G
c.8242A>G (p.Lys2748Glu)
c.7621A>G (p.Lys2541Glu)
c.8341A>G (p.Lys2781Glu)
c.8839A>G (p.Lys2947Glu)
c.6436A>G (p.Lys2146Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336258T>GCA351191280COL6A3c.1487A>C
c.8224A>C (p.Lys2742Gln)
c.969A>C
n.1109A>C
c.8842A>C (p.Lys2948Gln)
c.7018A>C (p.Lys2340Gln)
c.7021A>C (p.Lys2341Gln)
n.5284A>C
c.8242A>C (p.Lys2748Gln)
c.7621A>C (p.Lys2541Gln)
c.8341A>C (p.Lys2781Gln)
c.8839A>C (p.Lys2947Gln)
c.6436A>C (p.Lys2146Gln)
2g.237336258T=CA1337607105COL6A3c.1487A=
c.8224A= (p.Lys2742=)
c.969A=
n.1109A=
c.8842A= (p.Lys2948=)
c.7018A= (p.Lys2340=)
c.7021A= (p.Lys2341=)
n.5284A=
c.8242A= (p.Lys2748=)
c.7621A= (p.Lys2541=)
c.8341A= (p.Lys2781=)
c.8839A= (p.Lys2947=)
c.6436A= (p.Lys2146=)
2g.237336259T>ACA431701229COL6A3c.1486A>T
c.8223A>T (p.Ala2741=)
c.968A>T
n.1108A>T
c.8841A>T (p.Ala2947=)
c.7017A>T (p.Ala2339=)
c.7020A>T (p.Ala2340=)
n.5283A>T
c.8241A>T (p.Ala2747=)
c.7620A>T (p.Ala2540=)
c.8340A>T (p.Ala2780=)
c.8838A>T (p.Ala2946=)
c.6435A>T (p.Ala2145=)
2g.237336259T>CCA431701231COL6A3c.1486A>G
c.8223A>G (p.Ala2741=)
c.968A>G
n.1108A>G
c.8841A>G (p.Ala2947=)
c.7017A>G (p.Ala2339=)
c.7020A>G (p.Ala2340=)
n.5283A>G
c.8241A>G (p.Ala2747=)
c.7620A>G (p.Ala2540=)
c.8340A>G (p.Ala2780=)
c.8838A>G (p.Ala2946=)
c.6435A>G (p.Ala2145=)
2g.237336259T>GCA431701233COL6A3c.1486A>C
c.8223A>C (p.Ala2741=)
c.968A>C
n.1108A>C
c.8841A>C (p.Ala2947=)
c.7017A>C (p.Ala2339=)
c.7020A>C (p.Ala2340=)
n.5283A>C
c.8241A>C (p.Ala2747=)
c.7620A>C (p.Ala2540=)
c.8340A>C (p.Ala2780=)
c.8838A>C (p.Ala2946=)
c.6435A>C (p.Ala2145=)
2g.237336260G>ACA351191284COL6A3c.1485C>T
c.8222C>T (p.Ala2741Val)
c.967C>T
n.1107C>T
c.8840C>T (p.Ala2947Val)
c.7016C>T (p.Ala2339Val)
c.7019C>T (p.Ala2340Val)
n.5282C>T
c.8240C>T (p.Ala2747Val)
c.7619C>T (p.Ala2540Val)
c.8339C>T (p.Ala2780Val)
c.8837C>T (p.Ala2946Val)
c.6434C>T (p.Ala2145Val)
2g.237336260G>CCA351191286COL6A3c.1485C>G
c.8222C>G (p.Ala2741Gly)
c.967C>G
n.1107C>G
c.8840C>G (p.Ala2947Gly)
c.7016C>G (p.Ala2339Gly)
c.7019C>G (p.Ala2340Gly)
n.5282C>G
c.8240C>G (p.Ala2747Gly)
c.7619C>G (p.Ala2540Gly)
c.8339C>G (p.Ala2780Gly)
c.8837C>G (p.Ala2946Gly)
c.6434C>G (p.Ala2145Gly)
2g.237336260G>TCA351191288COL6A3c.1485C>A
c.8222C>A (p.Ala2741Glu)
c.967C>A
n.1107C>A
c.8840C>A (p.Ala2947Glu)
c.7016C>A (p.Ala2339Glu)
c.7019C>A (p.Ala2340Glu)
n.5282C>A
c.8240C>A (p.Ala2747Glu)
c.7619C>A (p.Ala2540Glu)
c.8339C>A (p.Ala2780Glu)
c.8837C>A (p.Ala2946Glu)
c.6434C>A (p.Ala2145Glu)
2g.237336261C>ACA351191291COL6A3c.1484G>T
c.8221G>T (p.Ala2741Ser)
c.966G>T
n.1106G>T
c.8839G>T (p.Ala2947Ser)
c.7015G>T (p.Ala2339Ser)
c.7018G>T (p.Ala2340Ser)
n.5281G>T
c.8239G>T (p.Ala2747Ser)
c.7618G>T (p.Ala2540Ser)
c.8338G>T (p.Ala2780Ser)
c.8836G>T (p.Ala2946Ser)
c.6433G>T (p.Ala2145Ser)
2g.237336261C=CA1337607106COL6A3c.1484G=
c.8221G= (p.Ala2741=)
c.966G=
n.1106G=
c.8839G= (p.Ala2947=)
c.7015G= (p.Ala2339=)
c.7018G= (p.Ala2340=)
n.5281G=
c.8239G= (p.Ala2747=)
c.7618G= (p.Ala2540=)
c.8338G= (p.Ala2780=)
c.8836G= (p.Ala2946=)
c.6433G= (p.Ala2145=)
2g.237336261C>GCA351191293COL6A3c.1484G>C
c.8221G>C (p.Ala2741Pro)
c.966G>C
n.1106G>C
c.8839G>C (p.Ala2947Pro)
c.7015G>C (p.Ala2339Pro)
c.7018G>C (p.Ala2340Pro)
n.5281G>C
c.8239G>C (p.Ala2747Pro)
c.7618G>C (p.Ala2540Pro)
c.8338G>C (p.Ala2780Pro)
c.8836G>C (p.Ala2946Pro)
c.6433G>C (p.Ala2145Pro)
2g.237336261C>TCA2187434COL6A3c.1484G>A
c.8221G>A (p.Ala2741Thr)
c.966G>A
n.1106G>A
c.8839G>A (p.Ala2947Thr)
c.7015G>A (p.Ala2339Thr)
c.7018G>A (p.Ala2340Thr)
n.5281G>A
c.8239G>A (p.Ala2747Thr)
c.7618G>A (p.Ala2540Thr)
c.8338G>A (p.Ala2780Thr)
c.8836G>A (p.Ala2946Thr)
c.6433G>A (p.Ala2145Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336262T>ACA431701249COL6A3c.1483A>T
c.8220A>T (p.Ala2740=)
c.965A>T
n.1105A>T
c.8838A>T (p.Ala2946=)
c.7014A>T (p.Ala2338=)
c.7017A>T (p.Ala2339=)
n.5280A>T
c.8238A>T (p.Ala2746=)
c.7617A>T (p.Ala2539=)
c.8337A>T (p.Ala2779=)
c.8835A>T (p.Ala2945=)
c.6432A>T (p.Ala2144=)
2g.237336262T>CCA431701251COL6A3c.1483A>G
c.8220A>G (p.Ala2740=)
c.965A>G
n.1105A>G
c.8838A>G (p.Ala2946=)
c.7014A>G (p.Ala2338=)
c.7017A>G (p.Ala2339=)
n.5280A>G
c.8238A>G (p.Ala2746=)
c.7617A>G (p.Ala2539=)
c.8337A>G (p.Ala2779=)
c.8835A>G (p.Ala2945=)
c.6432A>G (p.Ala2144=)
 dbSNP gnomAD v3 gnomAD v4
2g.237336262T>GCA431701255COL6A3c.1483A>C
c.8220A>C (p.Ala2740=)
c.965A>C
n.1105A>C
c.8838A>C (p.Ala2946=)
c.7014A>C (p.Ala2338=)
c.7017A>C (p.Ala2339=)
n.5280A>C
c.8238A>C (p.Ala2746=)
c.7617A>C (p.Ala2539=)
c.8337A>C (p.Ala2779=)
c.8835A>C (p.Ala2945=)
c.6432A>C (p.Ala2144=)
2g.237336262T=CA1337607107COL6A3c.1483A=
c.8220A= (p.Ala2740=)
c.965A=
n.1105A=
c.8838A= (p.Ala2946=)
c.7014A= (p.Ala2338=)
c.7017A= (p.Ala2339=)
n.5280A=
c.8238A= (p.Ala2746=)
c.7617A= (p.Ala2539=)
c.8337A= (p.Ala2779=)
c.8835A= (p.Ala2945=)
c.6432A= (p.Ala2144=)
2g.237336263G>ACA351191297COL6A3c.1482C>T
c.8219C>T (p.Ala2740Val)
c.964C>T
n.1104C>T
c.8837C>T (p.Ala2946Val)
c.7013C>T (p.Ala2338Val)
c.7016C>T (p.Ala2339Val)
n.5279C>T
c.8237C>T (p.Ala2746Val)
c.7616C>T (p.Ala2539Val)
c.8336C>T (p.Ala2779Val)
c.8834C>T (p.Ala2945Val)
c.6431C>T (p.Ala2144Val)
2g.237336263G>CCA351191299COL6A3c.1482C>G
c.8219C>G (p.Ala2740Gly)
c.964C>G
n.1104C>G
c.8837C>G (p.Ala2946Gly)
c.7013C>G (p.Ala2338Gly)
c.7016C>G (p.Ala2339Gly)
n.5279C>G
c.8237C>G (p.Ala2746Gly)
c.7616C>G (p.Ala2539Gly)
c.8336C>G (p.Ala2779Gly)
c.8834C>G (p.Ala2945Gly)
c.6431C>G (p.Ala2144Gly)
2g.237336263G>TCA351191295COL6A3c.1482C>A
c.8219C>A (p.Ala2740Glu)
c.964C>A
n.1104C>A
c.8837C>A (p.Ala2946Glu)
c.7013C>A (p.Ala2338Glu)
c.7016C>A (p.Ala2339Glu)
n.5279C>A
c.8237C>A (p.Ala2746Glu)
c.7616C>A (p.Ala2539Glu)
c.8336C>A (p.Ala2779Glu)
c.8834C>A (p.Ala2945Glu)
c.6431C>A (p.Ala2144Glu)
2g.237336264C>ACA351191303COL6A3c.1481G>T
c.8218G>T (p.Ala2740Ser)
c.963G>T
n.1103G>T
c.8836G>T (p.Ala2946Ser)
c.7012G>T (p.Ala2338Ser)
c.7015G>T (p.Ala2339Ser)
n.5278G>T
c.8236G>T (p.Ala2746Ser)
c.7615G>T (p.Ala2539Ser)
c.8335G>T (p.Ala2779Ser)
c.8833G>T (p.Ala2945Ser)
c.6430G>T (p.Ala2144Ser)
 COSMIC
2g.237336264C=CA1337607108COL6A3c.1481G=
c.8218G= (p.Ala2740=)
c.963G=
n.1103G=
c.8836G= (p.Ala2946=)
c.7012G= (p.Ala2338=)
c.7015G= (p.Ala2339=)
n.5278G=
c.8236G= (p.Ala2746=)
c.7615G= (p.Ala2539=)
c.8335G= (p.Ala2779=)
c.8833G= (p.Ala2945=)
c.6430G= (p.Ala2144=)
2g.237336264C>GCA351191304COL6A3c.1481G>C
c.8218G>C (p.Ala2740Pro)
c.963G>C
n.1103G>C
c.8836G>C (p.Ala2946Pro)
c.7012G>C (p.Ala2338Pro)
c.7015G>C (p.Ala2339Pro)
n.5278G>C
c.8236G>C (p.Ala2746Pro)
c.7615G>C (p.Ala2539Pro)
c.8335G>C (p.Ala2779Pro)
c.8833G>C (p.Ala2945Pro)
c.6430G>C (p.Ala2144Pro)
2g.237336264C>TCA2187435COL6A3c.1481G>A
c.8218G>A (p.Ala2740Thr)
c.963G>A
n.1103G>A
c.8836G>A (p.Ala2946Thr)
c.7012G>A (p.Ala2338Thr)
c.7015G>A (p.Ala2339Thr)
n.5278G>A
c.8236G>A (p.Ala2746Thr)
c.7615G>A (p.Ala2539Thr)
c.8335G>A (p.Ala2779Thr)
c.8833G>A (p.Ala2945Thr)
c.6430G>A (p.Ala2144Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336265T>ACA431701277COL6A3c.1480A>T
c.8217A>T (p.Val2739=)
c.962A>T
n.1102A>T
c.8835A>T (p.Val2945=)
c.7011A>T (p.Val2337=)
c.7014A>T (p.Val2338=)
n.5277A>T
c.8235A>T (p.Val2745=)
c.7614A>T (p.Val2538=)
c.8334A>T (p.Val2778=)
c.8832A>T (p.Val2944=)
c.6429A>T (p.Val2143=)
2g.237336265T>CCA431701281COL6A3c.1480A>G
c.8217A>G (p.Val2739=)
c.962A>G
n.1102A>G
c.8835A>G (p.Val2945=)
c.7011A>G (p.Val2337=)
c.7014A>G (p.Val2338=)
n.5277A>G
c.8235A>G (p.Val2745=)
c.7614A>G (p.Val2538=)
c.8334A>G (p.Val2778=)
c.8832A>G (p.Val2944=)
c.6429A>G (p.Val2143=)
2g.237336265T>GCA431701285COL6A3c.1480A>C
c.8217A>C (p.Val2739=)
c.962A>C
n.1102A>C
c.8835A>C (p.Val2945=)
c.7011A>C (p.Val2337=)
c.7014A>C (p.Val2338=)
n.5277A>C
c.8235A>C (p.Val2745=)
c.7614A>C (p.Val2538=)
c.8334A>C (p.Val2778=)
c.8832A>C (p.Val2944=)
c.6429A>C (p.Val2143=)
2g.237336266A>CCA351191309COL6A3c.1479T>G
c.8216T>G (p.Val2739Gly)
c.961T>G
n.1101T>G
c.8834T>G (p.Val2945Gly)
c.7010T>G (p.Val2337Gly)
c.7013T>G (p.Val2338Gly)
n.5276T>G
c.8234T>G (p.Val2745Gly)
c.7613T>G (p.Val2538Gly)
c.8333T>G (p.Val2778Gly)
c.8831T>G (p.Val2944Gly)
c.6428T>G (p.Val2143Gly)
2g.237336266A>GCA351191311COL6A3c.1479T>C
c.8216T>C (p.Val2739Ala)
c.961T>C
n.1101T>C
c.8834T>C (p.Val2945Ala)
c.7010T>C (p.Val2337Ala)
c.7013T>C (p.Val2338Ala)
n.5276T>C
c.8234T>C (p.Val2745Ala)
c.7613T>C (p.Val2538Ala)
c.8333T>C (p.Val2778Ala)
c.8831T>C (p.Val2944Ala)
c.6428T>C (p.Val2143Ala)
2g.237336266A>TCA351191313COL6A3c.1479T>A
c.8216T>A (p.Val2739Glu)
c.961T>A
n.1101T>A
c.8834T>A (p.Val2945Glu)
c.7010T>A (p.Val2337Glu)
c.7013T>A (p.Val2338Glu)
n.5276T>A
c.8234T>A (p.Val2745Glu)
c.7613T>A (p.Val2538Glu)
c.8333T>A (p.Val2778Glu)
c.8831T>A (p.Val2944Glu)
c.6428T>A (p.Val2143Glu)
 ClinVar dbSNP gnomAD v4
2g.237336267C>ACA351191316COL6A3c.1478G>T
c.8215G>T (p.Val2739Leu)
c.960G>T
n.1100G>T
c.8833G>T (p.Val2945Leu)
c.7009G>T (p.Val2337Leu)
c.7012G>T (p.Val2338Leu)
n.5275G>T
c.8233G>T (p.Val2745Leu)
c.7612G>T (p.Val2538Leu)
c.8332G>T (p.Val2778Leu)
c.8830G>T (p.Val2944Leu)
c.6427G>T (p.Val2143Leu)
2g.237336267C>GCA351191318COL6A3c.1478G>C
c.8215G>C (p.Val2739Leu)
c.960G>C
n.1100G>C
c.8833G>C (p.Val2945Leu)
c.7009G>C (p.Val2337Leu)
c.7012G>C (p.Val2338Leu)
n.5275G>C
c.8233G>C (p.Val2745Leu)
c.7612G>C (p.Val2538Leu)
c.8332G>C (p.Val2778Leu)
c.8830G>C (p.Val2944Leu)
c.6427G>C (p.Val2143Leu)
2g.237336267C>TCA351191321COL6A3c.1478G>A
c.8215G>A (p.Val2739Ile)
c.960G>A
n.1100G>A
c.8833G>A (p.Val2945Ile)
c.7009G>A (p.Val2337Ile)
c.7012G>A (p.Val2338Ile)
n.5275G>A
c.8233G>A (p.Val2745Ile)
c.7612G>A (p.Val2538Ile)
c.8332G>A (p.Val2778Ile)
c.8830G>A (p.Val2944Ile)
c.6427G>A (p.Val2143Ile)
 ClinVar
2g.237336268A>CCA431701305COL6A3c.1477T>G
c.8214T>G (p.Pro2738=)
c.959T>G
n.1099T>G
c.8832T>G (p.Pro2944=)
c.7008T>G (p.Pro2336=)
c.7011T>G (p.Pro2337=)
n.5274T>G
c.8232T>G (p.Pro2744=)
c.7611T>G (p.Pro2537=)
c.8331T>G (p.Pro2777=)
c.8829T>G (p.Pro2943=)
c.6426T>G (p.Pro2142=)
2g.237336268A>GCA431701311COL6A3c.1477T>C
c.8214T>C (p.Pro2738=)
c.959T>C
n.1099T>C
c.8832T>C (p.Pro2944=)
c.7008T>C (p.Pro2336=)
c.7011T>C (p.Pro2337=)
n.5274T>C
c.8232T>C (p.Pro2744=)
c.7611T>C (p.Pro2537=)
c.8331T>C (p.Pro2777=)
c.8829T>C (p.Pro2943=)
c.6426T>C (p.Pro2142=)
2g.237336268A>TCA431701307COL6A3c.1477T>A
c.8214T>A (p.Pro2738=)
c.959T>A
n.1099T>A
c.8832T>A (p.Pro2944=)
c.7008T>A (p.Pro2336=)
c.7011T>A (p.Pro2337=)
n.5274T>A
c.8232T>A (p.Pro2744=)
c.7611T>A (p.Pro2537=)
c.8331T>A (p.Pro2777=)
c.8829T>A (p.Pro2943=)
c.6426T>A (p.Pro2142=)
2g.237336269G>ACA351191324COL6A3c.1476C>T
c.8213C>T (p.Pro2738Leu)
c.958C>T
n.1098C>T
c.8831C>T (p.Pro2944Leu)
c.7007C>T (p.Pro2336Leu)
c.7010C>T (p.Pro2337Leu)
n.5273C>T
c.8231C>T (p.Pro2744Leu)
c.7610C>T (p.Pro2537Leu)
c.8330C>T (p.Pro2777Leu)
c.8828C>T (p.Pro2943Leu)
c.6425C>T (p.Pro2142Leu)
2g.237336269G>CCA351191326COL6A3c.1476C>G
c.8213C>G (p.Pro2738Arg)
c.958C>G
n.1098C>G
c.8831C>G (p.Pro2944Arg)
c.7007C>G (p.Pro2336Arg)
c.7010C>G (p.Pro2337Arg)
n.5273C>G
c.8231C>G (p.Pro2744Arg)
c.7610C>G (p.Pro2537Arg)
c.8330C>G (p.Pro2777Arg)
c.8828C>G (p.Pro2943Arg)
c.6425C>G (p.Pro2142Arg)
2g.237336269G>TCA351191328COL6A3c.1476C>A
c.8213C>A (p.Pro2738His)
c.958C>A
n.1098C>A
c.8831C>A (p.Pro2944His)
c.7007C>A (p.Pro2336His)
c.7010C>A (p.Pro2337His)
n.5273C>A
c.8231C>A (p.Pro2744His)
c.7610C>A (p.Pro2537His)
c.8330C>A (p.Pro2777His)
c.8828C>A (p.Pro2943His)
c.6425C>A (p.Pro2142His)
2g.237336270G>ACA351191335COL6A3c.1475C>T
c.8212C>T (p.Pro2738Ser)
c.957C>T
n.1097C>T
c.8830C>T (p.Pro2944Ser)
c.7006C>T (p.Pro2336Ser)
c.7009C>T (p.Pro2337Ser)
n.5272C>T
c.8230C>T (p.Pro2744Ser)
c.7609C>T (p.Pro2537Ser)
c.8329C>T (p.Pro2777Ser)
c.8827C>T (p.Pro2943Ser)
c.6424C>T (p.Pro2142Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.237336270G>CCA351191331COL6A3c.1475C>G
c.8212C>G (p.Pro2738Ala)
c.957C>G
n.1097C>G
c.8830C>G (p.Pro2944Ala)
c.7006C>G (p.Pro2336Ala)
c.7009C>G (p.Pro2337Ala)
n.5272C>G
c.8230C>G (p.Pro2744Ala)
c.7609C>G (p.Pro2537Ala)
c.8329C>G (p.Pro2777Ala)
c.8827C>G (p.Pro2943Ala)
c.6424C>G (p.Pro2142Ala)
2g.237336270G=CA1337607109COL6A3c.1475C=
c.8212C= (p.Pro2738=)
c.957C=
n.1097C=
c.8830C= (p.Pro2944=)
c.7006C= (p.Pro2336=)
c.7009C= (p.Pro2337=)
n.5272C=
c.8230C= (p.Pro2744=)
c.7609C= (p.Pro2537=)
c.8329C= (p.Pro2777=)
c.8827C= (p.Pro2943=)
c.6424C= (p.Pro2142=)
2g.237336270G>TCA351191333COL6A3c.1475C>A
c.8212C>A (p.Pro2738Thr)
c.957C>A
n.1097C>A
c.8830C>A (p.Pro2944Thr)
c.7006C>A (p.Pro2336Thr)
c.7009C>A (p.Pro2337Thr)
n.5272C>A
c.8230C>A (p.Pro2744Thr)
c.7609C>A (p.Pro2537Thr)
c.8329C>A (p.Pro2777Thr)
c.8827C>A (p.Pro2943Thr)
c.6424C>A (p.Pro2142Thr)

Number of alleles fetched