Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
2g.237340595A>CCA351195218COL6A3c.966T>G
c.7703T>G (p.Ile2568Ser)
c.324T>G
n.588T>G
c.8321T>G (p.Ile2774Ser)
c.6497T>G (p.Ile2166Ser)
n.8T>G
c.6500T>G (p.Ile2167Ser)
n.4763T>G
c.7721T>G (p.Ile2574Ser)
c.7100T>G (p.Ile2367Ser)
c.7820T>G (p.Ile2607Ser)
c.8318T>G (p.Ile2773Ser)
c.5915T>G (p.Ile1972Ser)
2g.237340595A>GCA351195219COL6A3c.966T>C
c.7703T>C (p.Ile2568Thr)
c.324T>C
n.588T>C
c.8321T>C (p.Ile2774Thr)
c.6497T>C (p.Ile2166Thr)
n.8T>C
c.6500T>C (p.Ile2167Thr)
n.4763T>C
c.7721T>C (p.Ile2574Thr)
c.7100T>C (p.Ile2367Thr)
c.7820T>C (p.Ile2607Thr)
c.8318T>C (p.Ile2773Thr)
c.5915T>C (p.Ile1972Thr)
 ClinVar
2g.237340595A>TCA351195222COL6A3c.966T>A
c.7703T>A (p.Ile2568Asn)
c.324T>A
n.588T>A
c.8321T>A (p.Ile2774Asn)
c.6497T>A (p.Ile2166Asn)
n.8T>A
c.6500T>A (p.Ile2167Asn)
n.4763T>A
c.7721T>A (p.Ile2574Asn)
c.7100T>A (p.Ile2367Asn)
c.7820T>A (p.Ile2607Asn)
c.8318T>A (p.Ile2773Asn)
c.5915T>A (p.Ile1972Asn)
2g.237340596T>ACA351195224COL6A3c.965A>T
c.7702A>T (p.Ile2568Phe)
c.323A>T
n.587A>T
c.8320A>T (p.Ile2774Phe)
c.6496A>T (p.Ile2166Phe)
n.7A>T
c.6499A>T (p.Ile2167Phe)
n.4762A>T
c.7720A>T (p.Ile2574Phe)
c.7099A>T (p.Ile2367Phe)
c.7819A>T (p.Ile2607Phe)
c.8317A>T (p.Ile2773Phe)
c.5914A>T (p.Ile1972Phe)
2g.237340596T>CCA351195225COL6A3c.965A>G
c.7702A>G (p.Ile2568Val)
c.323A>G
n.587A>G
c.8320A>G (p.Ile2774Val)
c.6496A>G (p.Ile2166Val)
n.7A>G
c.6499A>G (p.Ile2167Val)
n.4762A>G
c.7720A>G (p.Ile2574Val)
c.7099A>G (p.Ile2367Val)
c.7819A>G (p.Ile2607Val)
c.8317A>G (p.Ile2773Val)
c.5914A>G (p.Ile1972Val)
 dbSNP gnomAD v2 gnomAD v4
2g.237340596T>GCA351195229COL6A3c.965A>C
c.7702A>C (p.Ile2568Leu)
c.323A>C
n.587A>C
c.8320A>C (p.Ile2774Leu)
c.6496A>C (p.Ile2166Leu)
n.7A>C
c.6499A>C (p.Ile2167Leu)
n.4762A>C
c.7720A>C (p.Ile2574Leu)
c.7099A>C (p.Ile2367Leu)
c.7819A>C (p.Ile2607Leu)
c.8317A>C (p.Ile2773Leu)
c.5914A>C (p.Ile1972Leu)
2g.237340596T=CA1337608686COL6A3c.965A=
c.7702A= (p.Ile2568=)
c.323A=
n.587A=
c.8320A= (p.Ile2774=)
c.6496A= (p.Ile2166=)
n.7A=
c.6499A= (p.Ile2167=)
n.4762A=
c.7720A= (p.Ile2574=)
c.7099A= (p.Ile2367=)
c.7819A= (p.Ile2607=)
c.8317A= (p.Ile2773=)
c.5914A= (p.Ile1972=)
2g.237340597G>ACA431701832COL6A3c.964C>T
c.7701C>T (p.Gly2567=)
c.322C>T
n.586C>T
c.8319C>T (p.Gly2773=)
c.6495C>T (p.Gly2165=)
n.6C>T
c.6498C>T (p.Gly2166=)
n.4761C>T
c.7719C>T (p.Gly2573=)
c.7098C>T (p.Gly2366=)
c.7818C>T (p.Gly2606=)
c.8316C>T (p.Gly2772=)
c.5913C>T (p.Gly1971=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237340597G>CCA431701823COL6A3c.964C>G
c.7701C>G (p.Gly2567=)
c.322C>G
n.586C>G
c.8319C>G (p.Gly2773=)
c.6495C>G (p.Gly2165=)
n.6C>G
c.6498C>G (p.Gly2166=)
n.4761C>G
c.7719C>G (p.Gly2573=)
c.7098C>G (p.Gly2366=)
c.7818C>G (p.Gly2606=)
c.8316C>G (p.Gly2772=)
c.5913C>G (p.Gly1971=)
2g.237340597G=CA1337608692COL6A3c.964C=
c.7701C= (p.Gly2567=)
c.322C=
n.586C=
c.8319C= (p.Gly2773=)
c.6495C= (p.Gly2165=)
n.6C=
c.6498C= (p.Gly2166=)
n.4761C=
c.7719C= (p.Gly2573=)
c.7098C= (p.Gly2366=)
c.7818C= (p.Gly2606=)
c.8316C= (p.Gly2772=)
c.5913C= (p.Gly1971=)
2g.237340597G>TCA431701827COL6A3c.964C>A
c.7701C>A (p.Gly2567=)
c.322C>A
n.586C>A
c.8319C>A (p.Gly2773=)
c.6495C>A (p.Gly2165=)
n.6C>A
c.6498C>A (p.Gly2166=)
n.4761C>A
c.7719C>A (p.Gly2573=)
c.7098C>A (p.Gly2366=)
c.7818C>A (p.Gly2606=)
c.8316C>A (p.Gly2772=)
c.5913C>A (p.Gly1971=)
2g.237340598C>ACA351195240COL6A3c.963G>T
c.7700G>T (p.Gly2567Val)
c.321G>T
n.585G>T
c.8318G>T (p.Gly2773Val)
c.6494G>T (p.Gly2165Val)
n.5G>T
c.6497G>T (p.Gly2166Val)
n.4760G>T
c.7718G>T (p.Gly2573Val)
c.7097G>T (p.Gly2366Val)
c.7817G>T (p.Gly2606Val)
c.8315G>T (p.Gly2772Val)
c.5912G>T (p.Gly1971Val)
2g.237340598C>GCA351195249COL6A3c.963G>C
c.7700G>C (p.Gly2567Ala)
c.321G>C
n.585G>C
c.8318G>C (p.Gly2773Ala)
c.6494G>C (p.Gly2165Ala)
n.5G>C
c.6497G>C (p.Gly2166Ala)
n.4760G>C
c.7718G>C (p.Gly2573Ala)
c.7097G>C (p.Gly2366Ala)
c.7817G>C (p.Gly2606Ala)
c.8315G>C (p.Gly2772Ala)
c.5912G>C (p.Gly1971Ala)
2g.237340598C>TCA351195246COL6A3c.963G>A
c.7700G>A (p.Gly2567Asp)
c.321G>A
n.585G>A
c.8318G>A (p.Gly2773Asp)
c.6494G>A (p.Gly2165Asp)
n.5G>A
c.6497G>A (p.Gly2166Asp)
n.4760G>A
c.7718G>A (p.Gly2573Asp)
c.7097G>A (p.Gly2366Asp)
c.7817G>A (p.Gly2606Asp)
c.8315G>A (p.Gly2772Asp)
c.5912G>A (p.Gly1971Asp)
 gnomAD v4
2g.237340599C>ACA351195254COL6A3c.962G>T
c.7699G>T (p.Gly2567Cys)
c.320G>T
n.584G>T
c.8317G>T (p.Gly2773Cys)
c.6493G>T (p.Gly2165Cys)
n.4G>T
c.6496G>T (p.Gly2166Cys)
n.4759G>T
c.7717G>T (p.Gly2573Cys)
c.7096G>T (p.Gly2366Cys)
c.7816G>T (p.Gly2606Cys)
c.8314G>T (p.Gly2772Cys)
c.5911G>T (p.Gly1971Cys)
2g.237340599C=CA1337608696COL6A3c.962G=
c.7699G= (p.Gly2567=)
c.320G=
n.584G=
c.8317G= (p.Gly2773=)
c.6493G= (p.Gly2165=)
n.4G=
c.6496G= (p.Gly2166=)
n.4759G=
c.7717G= (p.Gly2573=)
c.7096G= (p.Gly2366=)
c.7816G= (p.Gly2606=)
c.8314G= (p.Gly2772=)
c.5911G= (p.Gly1971=)
2g.237340599C>GCA351195261COL6A3c.962G>C
c.7699G>C (p.Gly2567Arg)
c.320G>C
n.584G>C
c.8317G>C (p.Gly2773Arg)
c.6493G>C (p.Gly2165Arg)
n.4G>C
c.6496G>C (p.Gly2166Arg)
n.4759G>C
c.7717G>C (p.Gly2573Arg)
c.7096G>C (p.Gly2366Arg)
c.7816G>C (p.Gly2606Arg)
c.8314G>C (p.Gly2772Arg)
c.5911G>C (p.Gly1971Arg)
2g.237340599C>TCA2187576COL6A3c.962G>A
c.7699G>A (p.Gly2567Ser)
c.320G>A
n.584G>A
c.8317G>A (p.Gly2773Ser)
c.6493G>A (p.Gly2165Ser)
n.4G>A
c.6496G>A (p.Gly2166Ser)
n.4759G>A
c.7717G>A (p.Gly2573Ser)
c.7096G>A (p.Gly2366Ser)
c.7816G>A (p.Gly2606Ser)
c.8314G>A (p.Gly2772Ser)
c.5911G>A (p.Gly1971Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340600C>ACA431701853COL6A3c.961G>T
c.7698G>T (p.Leu2566=)
c.319G>T
n.583G>T
c.8316G>T (p.Leu2772=)
c.6492G>T (p.Leu2164=)
n.3G>T
c.6495G>T (p.Leu2165=)
n.4758G>T
c.7716G>T (p.Leu2572=)
c.7095G>T (p.Leu2365=)
c.7815G>T (p.Leu2605=)
c.8313G>T (p.Leu2771=)
c.5910G>T (p.Leu1970=)
2g.237340600C>GCA431701856COL6A3c.961G>C
c.7698G>C (p.Leu2566=)
c.319G>C
n.583G>C
c.8316G>C (p.Leu2772=)
c.6492G>C (p.Leu2164=)
n.3G>C
c.6495G>C (p.Leu2165=)
n.4758G>C
c.7716G>C (p.Leu2572=)
c.7095G>C (p.Leu2365=)
c.7815G>C (p.Leu2605=)
c.8313G>C (p.Leu2771=)
c.5910G>C (p.Leu1970=)
2g.237340600C>TCA431701857COL6A3c.961G>A
c.7698G>A (p.Leu2566=)
c.319G>A
n.583G>A
c.8316G>A (p.Leu2772=)
c.6492G>A (p.Leu2164=)
n.3G>A
c.6495G>A (p.Leu2165=)
n.4758G>A
c.7716G>A (p.Leu2572=)
c.7095G>A (p.Leu2365=)
c.7815G>A (p.Leu2605=)
c.8313G>A (p.Leu2771=)
c.5910G>A (p.Leu1970=)
2g.237340601A>CCA351195266COL6A3c.960T>G
c.7697T>G (p.Leu2566Arg)
c.318T>G
n.582T>G
c.8315T>G (p.Leu2772Arg)
c.6491T>G (p.Leu2164Arg)
n.2T>G
c.6494T>G (p.Leu2165Arg)
n.4757T>G
c.7715T>G (p.Leu2572Arg)
c.7094T>G (p.Leu2365Arg)
c.7814T>G (p.Leu2605Arg)
c.8312T>G (p.Leu2771Arg)
c.5909T>G (p.Leu1970Arg)
2g.237340601A>GCA351195268COL6A3c.960T>C
c.7697T>C (p.Leu2566Pro)
c.318T>C
n.582T>C
c.8315T>C (p.Leu2772Pro)
c.6491T>C (p.Leu2164Pro)
n.2T>C
c.6494T>C (p.Leu2165Pro)
n.4757T>C
c.7715T>C (p.Leu2572Pro)
c.7094T>C (p.Leu2365Pro)
c.7814T>C (p.Leu2605Pro)
c.8312T>C (p.Leu2771Pro)
c.5909T>C (p.Leu1970Pro)
2g.237340601A>TCA351195270COL6A3c.960T>A
c.7697T>A (p.Leu2566Gln)
c.318T>A
n.582T>A
c.8315T>A (p.Leu2772Gln)
c.6491T>A (p.Leu2164Gln)
n.2T>A
c.6494T>A (p.Leu2165Gln)
n.4757T>A
c.7715T>A (p.Leu2572Gln)
c.7094T>A (p.Leu2365Gln)
c.7814T>A (p.Leu2605Gln)
c.8312T>A (p.Leu2771Gln)
c.5909T>A (p.Leu1970Gln)
2g.237340601_237340602delinsAGCA1337608698COL6A3c.959_960delinsCT
c.7696_7697delinsCT (p.Leu2566=)
c.317_318delinsCT
n.581_582delinsCT
c.8314_8315delinsCT (p.Leu2772=)
c.6490_6491delinsCT (p.Leu2164=)
n.1_2delinsCT
c.6493_6494delinsCT (p.Leu2165=)
n.4756_4757delinsCT
c.7714_7715delinsCT (p.Leu2572=)
c.7093_7094delinsCT (p.Leu2365=)
c.7813_7814delinsCT (p.Leu2605=)
c.8311_8312delinsCT (p.Leu2771=)
c.5908_5909delinsCT (p.Leu1970=)
2g.237340602G>ACA431701867COL6A3c.959C>T
c.7696C>T (p.Leu2566=)
c.317C>T
n.581C>T
c.8314C>T (p.Leu2772=)
c.6490C>T (p.Leu2164=)
n.1C>T
c.6493C>T (p.Leu2165=)
n.4756C>T
c.7714C>T (p.Leu2572=)
c.7093C>T (p.Leu2365=)
c.7813C>T (p.Leu2605=)
c.8311C>T (p.Leu2771=)
c.5908C>T (p.Leu1970=)
 COSMIC
2g.237340602G>CCA351195273COL6A3c.959C>G
c.7696C>G (p.Leu2566Val)
c.317C>G
n.581C>G
c.8314C>G (p.Leu2772Val)
c.6490C>G (p.Leu2164Val)
n.1C>G
c.6493C>G (p.Leu2165Val)
n.4756C>G
c.7714C>G (p.Leu2572Val)
c.7093C>G (p.Leu2365Val)
c.7813C>G (p.Leu2605Val)
c.8311C>G (p.Leu2771Val)
c.5908C>G (p.Leu1970Val)
2g.237340602G>TCA351195274COL6A3c.959C>A
c.7696C>A (p.Leu2566Met)
c.317C>A
n.581C>A
c.8314C>A (p.Leu2772Met)
c.6490C>A (p.Leu2164Met)
n.1C>A
c.6493C>A (p.Leu2165Met)
n.4756C>A
c.7714C>A (p.Leu2572Met)
c.7093C>A (p.Leu2365Met)
c.7813C>A (p.Leu2605Met)
c.8311C>A (p.Leu2771Met)
c.5908C>A (p.Leu1970Met)
2g.237340603delCA2187577COL6A3c.959del
c.7696del (p.Leu2566TrpfsTer7)
c.317del
n.581del
c.8314del (p.Leu2772TrpfsTer7)
c.6490del (p.Leu2164TrpfsTer7)
c.6493del (p.Leu2165TrpfsTer7)
n.4756del
c.7714del (p.Leu2572TrpfsTer7)
c.7093del (p.Leu2365TrpfsTer7)
c.7813del (p.Leu2605TrpfsTer7)
c.8311del (p.Leu2771TrpfsTer7)
c.5908del (p.Leu1970TrpfsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340603G>ACA431701875COL6A3c.958C>T
c.7695C>T (p.Val2565=)
c.316C>T
n.580C>T
c.8313C>T (p.Val2771=)
c.6489C>T (p.Val2163=)
c.6492C>T (p.Val2164=)
n.4755C>T
c.7713C>T (p.Val2571=)
c.7092C>T (p.Val2364=)
c.7812C>T (p.Val2604=)
c.8310C>T (p.Val2770=)
c.5907C>T (p.Val1969=)
2g.237340603G>CCA431701878COL6A3c.958C>G
c.7695C>G (p.Val2565=)
c.316C>G
n.580C>G
c.8313C>G (p.Val2771=)
c.6489C>G (p.Val2163=)
c.6492C>G (p.Val2164=)
n.4755C>G
c.7713C>G (p.Val2571=)
c.7092C>G (p.Val2364=)
c.7812C>G (p.Val2604=)
c.8310C>G (p.Val2770=)
c.5907C>G (p.Val1969=)
2g.237340603G>TCA431701883COL6A3c.958C>A
c.7695C>A (p.Val2565=)
c.316C>A
n.580C>A
c.8313C>A (p.Val2771=)
c.6489C>A (p.Val2163=)
c.6492C>A (p.Val2164=)
n.4755C>A
c.7713C>A (p.Val2571=)
c.7092C>A (p.Val2364=)
c.7812C>A (p.Val2604=)
c.8310C>A (p.Val2770=)
c.5907C>A (p.Val1969=)
2g.237340604A>CCA351195277COL6A3c.957T>G
c.7694T>G (p.Val2565Gly)
c.315T>G
n.579T>G
c.8312T>G (p.Val2771Gly)
c.6488T>G (p.Val2163Gly)
c.6491T>G (p.Val2164Gly)
n.4754T>G
c.7712T>G (p.Val2571Gly)
c.7091T>G (p.Val2364Gly)
c.7811T>G (p.Val2604Gly)
c.8309T>G (p.Val2770Gly)
c.5906T>G (p.Val1969Gly)
2g.237340604A>GCA351195282COL6A3c.957T>C
c.7694T>C (p.Val2565Ala)
c.315T>C
n.579T>C
c.8312T>C (p.Val2771Ala)
c.6488T>C (p.Val2163Ala)
c.6491T>C (p.Val2164Ala)
n.4754T>C
c.7712T>C (p.Val2571Ala)
c.7091T>C (p.Val2364Ala)
c.7811T>C (p.Val2604Ala)
c.8309T>C (p.Val2770Ala)
c.5906T>C (p.Val1969Ala)
2g.237340604A>TCA351195283COL6A3c.957T>A
c.7694T>A (p.Val2565Asp)
c.315T>A
n.579T>A
c.8312T>A (p.Val2771Asp)
c.6488T>A (p.Val2163Asp)
c.6491T>A (p.Val2164Asp)
n.4754T>A
c.7712T>A (p.Val2571Asp)
c.7091T>A (p.Val2364Asp)
c.7811T>A (p.Val2604Asp)
c.8309T>A (p.Val2770Asp)
c.5906T>A (p.Val1969Asp)
2g.237340605C>ACA351195287COL6A3c.956G>T
c.7693G>T (p.Val2565Phe)
c.314G>T
n.578G>T
c.8311G>T (p.Val2771Phe)
c.6487G>T (p.Val2163Phe)
c.6490G>T (p.Val2164Phe)
n.4753G>T
c.7711G>T (p.Val2571Phe)
c.7090G>T (p.Val2364Phe)
c.7810G>T (p.Val2604Phe)
c.8308G>T (p.Val2770Phe)
c.5905G>T (p.Val1969Phe)
 gnomAD v4
2g.237340605C>GCA351195289COL6A3c.956G>C
c.7693G>C (p.Val2565Leu)
c.314G>C
n.578G>C
c.8311G>C (p.Val2771Leu)
c.6487G>C (p.Val2163Leu)
c.6490G>C (p.Val2164Leu)
n.4753G>C
c.7711G>C (p.Val2571Leu)
c.7090G>C (p.Val2364Leu)
c.7810G>C (p.Val2604Leu)
c.8308G>C (p.Val2770Leu)
c.5905G>C (p.Val1969Leu)
2g.237340605C>TCA351195286COL6A3c.956G>A
c.7693G>A (p.Val2565Ile)
c.314G>A
n.578G>A
c.8311G>A (p.Val2771Ile)
c.6487G>A (p.Val2163Ile)
c.6490G>A (p.Val2164Ile)
n.4753G>A
c.7711G>A (p.Val2571Ile)
c.7090G>A (p.Val2364Ile)
c.7810G>A (p.Val2604Ile)
c.8308G>A (p.Val2770Ile)
c.5905G>A (p.Val1969Ile)
 gnomAD v4
2g.237340606C>ACA2187578COL6A3c.955G>T
c.7692G>T (p.Val2564=)
c.313G>T
n.577G>T
c.8310G>T (p.Val2770=)
c.6486G>T (p.Val2162=)
c.6489G>T (p.Val2163=)
n.4752G>T
c.7710G>T (p.Val2570=)
c.7089G>T (p.Val2363=)
c.7809G>T (p.Val2603=)
c.8307G>T (p.Val2769=)
c.5904G>T (p.Val1968=)
 dbSNP ExAC gnomAD v2
2g.237340606C=CA1337608703COL6A3c.955G=
c.7692G= (p.Val2564=)
c.313G=
n.577G=
c.8310G= (p.Val2770=)
c.6486G= (p.Val2162=)
c.6489G= (p.Val2163=)
n.4752G=
c.7710G= (p.Val2570=)
c.7089G= (p.Val2363=)
c.7809G= (p.Val2603=)
c.8307G= (p.Val2769=)
c.5904G= (p.Val1968=)
2g.237340606C>GCA431701902COL6A3c.955G>C
c.7692G>C (p.Val2564=)
c.313G>C
n.577G>C
c.8310G>C (p.Val2770=)
c.6486G>C (p.Val2162=)
c.6489G>C (p.Val2163=)
n.4752G>C
c.7710G>C (p.Val2570=)
c.7089G>C (p.Val2363=)
c.7809G>C (p.Val2603=)
c.8307G>C (p.Val2769=)
c.5904G>C (p.Val1968=)
 ClinVar dbSNP gnomAD v4
2g.237340606C>TCA67835585COL6A3c.955G>A
c.7692G>A (p.Val2564=)
c.313G>A
n.577G>A
c.8310G>A (p.Val2770=)
c.6486G>A (p.Val2162=)
c.6489G>A (p.Val2163=)
n.4752G>A
c.7710G>A (p.Val2570=)
c.7089G>A (p.Val2363=)
c.7809G>A (p.Val2603=)
c.8307G>A (p.Val2769=)
c.5904G>A (p.Val1968=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237340607A>CCA351195293COL6A3c.954T>G
c.7691T>G (p.Val2564Gly)
c.312T>G
n.576T>G
c.8309T>G (p.Val2770Gly)
c.6485T>G (p.Val2162Gly)
c.6488T>G (p.Val2163Gly)
n.4751T>G
c.7709T>G (p.Val2570Gly)
c.7088T>G (p.Val2363Gly)
c.7808T>G (p.Val2603Gly)
c.8306T>G (p.Val2769Gly)
c.5903T>G (p.Val1968Gly)
2g.237340607A>GCA351195291COL6A3c.954T>C
c.7691T>C (p.Val2564Ala)
c.312T>C
n.576T>C
c.8309T>C (p.Val2770Ala)
c.6485T>C (p.Val2162Ala)
c.6488T>C (p.Val2163Ala)
n.4751T>C
c.7709T>C (p.Val2570Ala)
c.7088T>C (p.Val2363Ala)
c.7808T>C (p.Val2603Ala)
c.8306T>C (p.Val2769Ala)
c.5903T>C (p.Val1968Ala)
2g.237340607A>TCA351195292COL6A3c.954T>A
c.7691T>A (p.Val2564Glu)
c.312T>A
n.576T>A
c.8309T>A (p.Val2770Glu)
c.6485T>A (p.Val2162Glu)
c.6488T>A (p.Val2163Glu)
n.4751T>A
c.7709T>A (p.Val2570Glu)
c.7088T>A (p.Val2363Glu)
c.7808T>A (p.Val2603Glu)
c.8306T>A (p.Val2769Glu)
c.5903T>A (p.Val1968Glu)
2g.237340608C>ACA351195296COL6A3c.953G>T
c.7690G>T (p.Val2564Leu)
c.311G>T
n.575G>T
c.8308G>T (p.Val2770Leu)
c.6484G>T (p.Val2162Leu)
c.6487G>T (p.Val2163Leu)
n.4750G>T
c.7708G>T (p.Val2570Leu)
c.7087G>T (p.Val2363Leu)
c.7807G>T (p.Val2603Leu)
c.8305G>T (p.Val2769Leu)
c.5902G>T (p.Val1968Leu)
2g.237340608C=CA1337608708COL6A3c.953G=
c.7690G= (p.Val2564=)
c.311G=
n.575G=
c.8308G= (p.Val2770=)
c.6484G= (p.Val2162=)
c.6487G= (p.Val2163=)
n.4750G=
c.7708G= (p.Val2570=)
c.7087G= (p.Val2363=)
c.7807G= (p.Val2603=)
c.8305G= (p.Val2769=)
c.5902G= (p.Val1968=)
2g.237340608C>GCA351195297COL6A3c.953G>C
c.7690G>C (p.Val2564Leu)
c.311G>C
n.575G>C
c.8308G>C (p.Val2770Leu)
c.6484G>C (p.Val2162Leu)
c.6487G>C (p.Val2163Leu)
n.4750G>C
c.7708G>C (p.Val2570Leu)
c.7087G>C (p.Val2363Leu)
c.7807G>C (p.Val2603Leu)
c.8305G>C (p.Val2769Leu)
c.5902G>C (p.Val1968Leu)
2g.237340608C>TCA10607010COL6A3c.953G>A
c.7690G>A (p.Val2564Met)
c.311G>A
n.575G>A
c.8308G>A (p.Val2770Met)
c.6484G>A (p.Val2162Met)
c.6487G>A (p.Val2163Met)
n.4750G>A
c.7708G>A (p.Val2570Met)
c.7087G>A (p.Val2363Met)
c.7807G>A (p.Val2603Met)
c.8305G>A (p.Val2769Met)
c.5902G>A (p.Val1968Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237340609G>ACA2187579COL6A3c.952C>T
c.7689C>T (p.Phe2563=)
c.310C>T
n.574C>T
c.8307C>T (p.Phe2769=)
c.6483C>T (p.Phe2161=)
c.6486C>T (p.Phe2162=)
n.4749C>T
c.7707C>T (p.Phe2569=)
c.7086C>T (p.Phe2362=)
c.7806C>T (p.Phe2602=)
c.8304C>T (p.Phe2768=)
c.5901C>T (p.Phe1967=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340609G>CCA351195303COL6A3c.952C>G
c.7689C>G (p.Phe2563Leu)
c.310C>G
n.574C>G
c.8307C>G (p.Phe2769Leu)
c.6483C>G (p.Phe2161Leu)
c.6486C>G (p.Phe2162Leu)
n.4749C>G
c.7707C>G (p.Phe2569Leu)
c.7086C>G (p.Phe2362Leu)
c.7806C>G (p.Phe2602Leu)
c.8304C>G (p.Phe2768Leu)
c.5901C>G (p.Phe1967Leu)
 gnomAD v4
2g.237340609G=CA1337608718COL6A3c.952C=
c.7689C= (p.Phe2563=)
c.310C=
n.574C=
c.8307C= (p.Phe2769=)
c.6483C= (p.Phe2161=)
c.6486C= (p.Phe2162=)
n.4749C=
c.7707C= (p.Phe2569=)
c.7086C= (p.Phe2362=)
c.7806C= (p.Phe2602=)
c.8304C= (p.Phe2768=)
c.5901C= (p.Phe1967=)
2g.237340609G>TCA351195306COL6A3c.952C>A
c.7689C>A (p.Phe2563Leu)
c.310C>A
n.574C>A
c.8307C>A (p.Phe2769Leu)
c.6483C>A (p.Phe2161Leu)
c.6486C>A (p.Phe2162Leu)
n.4749C>A
c.7707C>A (p.Phe2569Leu)
c.7086C>A (p.Phe2362Leu)
c.7806C>A (p.Phe2602Leu)
c.8304C>A (p.Phe2768Leu)
c.5901C>A (p.Phe1967Leu)
2g.237340613_237340615delCA2586971704COL6A3c.950_952del
c.7687_7689del (p.Phe2563del)
c.308_310del
n.572_574del
c.8305_8307del (p.Phe2769del)
c.6481_6483del (p.Phe2161del)
c.6484_6486del (p.Phe2162del)
n.4747_4749del
c.7705_7707del (p.Phe2569del)
c.7084_7086del (p.Phe2362del)
c.7804_7806del (p.Phe2602del)
c.8302_8304del (p.Phe2768del)
c.5899_5901del (p.Phe1967del)
2g.237340610A>CCA351195313COL6A3c.951T>G
c.7688T>G (p.Phe2563Cys)
c.309T>G
n.573T>G
c.8306T>G (p.Phe2769Cys)
c.6482T>G (p.Phe2161Cys)
c.6485T>G (p.Phe2162Cys)
n.4748T>G
c.7706T>G (p.Phe2569Cys)
c.7085T>G (p.Phe2362Cys)
c.7805T>G (p.Phe2602Cys)
c.8303T>G (p.Phe2768Cys)
c.5900T>G (p.Phe1967Cys)
2g.237340610A>GCA351195316COL6A3c.951T>C
c.7688T>C (p.Phe2563Ser)
c.309T>C
n.573T>C
c.8306T>C (p.Phe2769Ser)
c.6482T>C (p.Phe2161Ser)
c.6485T>C (p.Phe2162Ser)
n.4748T>C
c.7706T>C (p.Phe2569Ser)
c.7085T>C (p.Phe2362Ser)
c.7805T>C (p.Phe2602Ser)
c.8303T>C (p.Phe2768Ser)
c.5900T>C (p.Phe1967Ser)
2g.237340610A>TCA351195319COL6A3c.951T>A
c.7688T>A (p.Phe2563Tyr)
c.309T>A
n.573T>A
c.8306T>A (p.Phe2769Tyr)
c.6482T>A (p.Phe2161Tyr)
c.6485T>A (p.Phe2162Tyr)
n.4748T>A
c.7706T>A (p.Phe2569Tyr)
c.7085T>A (p.Phe2362Tyr)
c.7805T>A (p.Phe2602Tyr)
c.8303T>A (p.Phe2768Tyr)
c.5900T>A (p.Phe1967Tyr)
2g.237340611A>CCA351195323COL6A3c.950T>G
c.7687T>G (p.Phe2563Val)
c.308T>G
n.572T>G
c.8305T>G (p.Phe2769Val)
c.6481T>G (p.Phe2161Val)
c.6484T>G (p.Phe2162Val)
n.4747T>G
c.7705T>G (p.Phe2569Val)
c.7084T>G (p.Phe2362Val)
c.7804T>G (p.Phe2602Val)
c.8302T>G (p.Phe2768Val)
c.5899T>G (p.Phe1967Val)
2g.237340611A>GCA351195326COL6A3c.950T>C
c.7687T>C (p.Phe2563Leu)
c.308T>C
n.572T>C
c.8305T>C (p.Phe2769Leu)
c.6481T>C (p.Phe2161Leu)
c.6484T>C (p.Phe2162Leu)
n.4747T>C
c.7705T>C (p.Phe2569Leu)
c.7084T>C (p.Phe2362Leu)
c.7804T>C (p.Phe2602Leu)
c.8302T>C (p.Phe2768Leu)
c.5899T>C (p.Phe1967Leu)
2g.237340611A>TCA351195328COL6A3c.950T>A
c.7687T>A (p.Phe2563Ile)
c.308T>A
n.572T>A
c.8305T>A (p.Phe2769Ile)
c.6481T>A (p.Phe2161Ile)
c.6484T>A (p.Phe2162Ile)
n.4747T>A
c.7705T>A (p.Phe2569Ile)
c.7084T>A (p.Phe2362Ile)
c.7804T>A (p.Phe2602Ile)
c.8302T>A (p.Phe2768Ile)
c.5899T>A (p.Phe1967Ile)
2g.237340612G>ACA431701970COL6A3c.949C>T
c.7686C>T (p.Phe2562=)
c.307C>T
n.571C>T
c.8304C>T (p.Phe2768=)
c.6480C>T (p.Phe2160=)
c.6483C>T (p.Phe2161=)
n.4746C>T
c.7704C>T (p.Phe2568=)
c.7083C>T (p.Phe2361=)
c.7803C>T (p.Phe2601=)
c.8301C>T (p.Phe2767=)
c.5898C>T (p.Phe1966=)
 dbSNP
2g.237340612G>CCA351195333COL6A3c.949C>G
c.7686C>G (p.Phe2562Leu)
c.307C>G
n.571C>G
c.8304C>G (p.Phe2768Leu)
c.6480C>G (p.Phe2160Leu)
c.6483C>G (p.Phe2161Leu)
n.4746C>G
c.7704C>G (p.Phe2568Leu)
c.7083C>G (p.Phe2361Leu)
c.7803C>G (p.Phe2601Leu)
c.8301C>G (p.Phe2767Leu)
c.5898C>G (p.Phe1966Leu)
2g.237340612G=CA1337608722COL6A3c.949C=
c.7686C= (p.Phe2562=)
c.307C=
n.571C=
c.8304C= (p.Phe2768=)
c.6480C= (p.Phe2160=)
c.6483C= (p.Phe2161=)
n.4746C=
c.7704C= (p.Phe2568=)
c.7083C= (p.Phe2361=)
c.7803C= (p.Phe2601=)
c.8301C= (p.Phe2767=)
c.5898C= (p.Phe1966=)
2g.237340612G>TCA351195337COL6A3c.949C>A
c.7686C>A (p.Phe2562Leu)
c.307C>A
n.571C>A
c.8304C>A (p.Phe2768Leu)
c.6480C>A (p.Phe2160Leu)
c.6483C>A (p.Phe2161Leu)
n.4746C>A
c.7704C>A (p.Phe2568Leu)
c.7083C>A (p.Phe2361Leu)
c.7803C>A (p.Phe2601Leu)
c.8301C>A (p.Phe2767Leu)
c.5898C>A (p.Phe1966Leu)
2g.237340613A>CCA351195341COL6A3c.948T>G
c.7685T>G (p.Phe2562Cys)
c.306T>G
n.570T>G
c.8303T>G (p.Phe2768Cys)
c.6479T>G (p.Phe2160Cys)
c.6482T>G (p.Phe2161Cys)
n.4745T>G
c.7703T>G (p.Phe2568Cys)
c.7082T>G (p.Phe2361Cys)
c.7802T>G (p.Phe2601Cys)
c.8300T>G (p.Phe2767Cys)
c.5897T>G (p.Phe1966Cys)
2g.237340613A>GCA351195345COL6A3c.948T>C
c.7685T>C (p.Phe2562Ser)
c.306T>C
n.570T>C
c.8303T>C (p.Phe2768Ser)
c.6479T>C (p.Phe2160Ser)
c.6482T>C (p.Phe2161Ser)
n.4745T>C
c.7703T>C (p.Phe2568Ser)
c.7082T>C (p.Phe2361Ser)
c.7802T>C (p.Phe2601Ser)
c.8300T>C (p.Phe2767Ser)
c.5897T>C (p.Phe1966Ser)
2g.237340613A>TCA351195355COL6A3c.948T>A
c.7685T>A (p.Phe2562Tyr)
c.306T>A
n.570T>A
c.8303T>A (p.Phe2768Tyr)
c.6479T>A (p.Phe2160Tyr)
c.6482T>A (p.Phe2161Tyr)
n.4745T>A
c.7703T>A (p.Phe2568Tyr)
c.7082T>A (p.Phe2361Tyr)
c.7802T>A (p.Phe2601Tyr)
c.8300T>A (p.Phe2767Tyr)
c.5897T>A (p.Phe1966Tyr)
2g.237340614A>CCA351195361COL6A3c.947T>G
c.7684T>G (p.Phe2562Val)
c.305T>G
n.569T>G
c.8302T>G (p.Phe2768Val)
c.6478T>G (p.Phe2160Val)
c.6481T>G (p.Phe2161Val)
n.4744T>G
c.7702T>G (p.Phe2568Val)
c.7081T>G (p.Phe2361Val)
c.7801T>G (p.Phe2601Val)
c.8299T>G (p.Phe2767Val)
c.5896T>G (p.Phe1966Val)
2g.237340614A>GCA351195364COL6A3c.947T>C
c.7684T>C (p.Phe2562Leu)
c.305T>C
n.569T>C
c.8302T>C (p.Phe2768Leu)
c.6478T>C (p.Phe2160Leu)
c.6481T>C (p.Phe2161Leu)
n.4744T>C
c.7702T>C (p.Phe2568Leu)
c.7081T>C (p.Phe2361Leu)
c.7801T>C (p.Phe2601Leu)
c.8299T>C (p.Phe2767Leu)
c.5896T>C (p.Phe1966Leu)
2g.237340614A>TCA351195367COL6A3c.947T>A
c.7684T>A (p.Phe2562Ile)
c.305T>A
n.569T>A
c.8302T>A (p.Phe2768Ile)
c.6478T>A (p.Phe2160Ile)
c.6481T>A (p.Phe2161Ile)
n.4744T>A
c.7702T>A (p.Phe2568Ile)
c.7081T>A (p.Phe2361Ile)
c.7801T>A (p.Phe2601Ile)
c.8299T>A (p.Phe2767Ile)
c.5896T>A (p.Phe1966Ile)
2g.237340615G>ACA431701996COL6A3c.946C>T
c.7683C>T (p.Tyr2561=)
c.304C>T
n.568C>T
c.8301C>T (p.Tyr2767=)
c.6477C>T (p.Tyr2159=)
c.6480C>T (p.Tyr2160=)
n.4743C>T
c.7701C>T (p.Tyr2567=)
c.7080C>T (p.Tyr2360=)
c.7800C>T (p.Tyr2600=)
c.8298C>T (p.Tyr2766=)
c.5895C>T (p.Tyr1965=)
2g.237340615G>CCA351195368COL6A3c.946C>G
c.7683C>G (p.Tyr2561Ter)
c.304C>G
n.568C>G
c.8301C>G (p.Tyr2767Ter)
c.6477C>G (p.Tyr2159Ter)
c.6480C>G (p.Tyr2160Ter)
n.4743C>G
c.7701C>G (p.Tyr2567Ter)
c.7080C>G (p.Tyr2360Ter)
c.7800C>G (p.Tyr2600Ter)
c.8298C>G (p.Tyr2766Ter)
c.5895C>G (p.Tyr1965Ter)
2g.237340615G>TCA351195369COL6A3c.946C>A
c.7683C>A (p.Tyr2561Ter)
c.304C>A
n.568C>A
c.8301C>A (p.Tyr2767Ter)
c.6477C>A (p.Tyr2159Ter)
c.6480C>A (p.Tyr2160Ter)
n.4743C>A
c.7701C>A (p.Tyr2567Ter)
c.7080C>A (p.Tyr2360Ter)
c.7800C>A (p.Tyr2600Ter)
c.8298C>A (p.Tyr2766Ter)
c.5895C>A (p.Tyr1965Ter)
2g.237340616T>ACA351195371COL6A3c.945A>T
c.7682A>T (p.Tyr2561Phe)
c.303A>T
n.567A>T
c.8300A>T (p.Tyr2767Phe)
c.6476A>T (p.Tyr2159Phe)
c.6479A>T (p.Tyr2160Phe)
n.4742A>T
c.7700A>T (p.Tyr2567Phe)
c.7079A>T (p.Tyr2360Phe)
c.7799A>T (p.Tyr2600Phe)
c.8297A>T (p.Tyr2766Phe)
c.5894A>T (p.Tyr1965Phe)
2g.237340616T>CCA67835598COL6A3c.945A>G
c.7682A>G (p.Tyr2561Cys)
c.303A>G
n.567A>G
c.8300A>G (p.Tyr2767Cys)
c.6476A>G (p.Tyr2159Cys)
c.6479A>G (p.Tyr2160Cys)
n.4742A>G
c.7700A>G (p.Tyr2567Cys)
c.7079A>G (p.Tyr2360Cys)
c.7799A>G (p.Tyr2600Cys)
c.8297A>G (p.Tyr2766Cys)
c.5894A>G (p.Tyr1965Cys)
 dbSNP gnomAD v4
2g.237340616T>GCA351195375COL6A3c.945A>C
c.7682A>C (p.Tyr2561Ser)
c.303A>C
n.567A>C
c.8300A>C (p.Tyr2767Ser)
c.6476A>C (p.Tyr2159Ser)
c.6479A>C (p.Tyr2160Ser)
n.4742A>C
c.7700A>C (p.Tyr2567Ser)
c.7079A>C (p.Tyr2360Ser)
c.7799A>C (p.Tyr2600Ser)
c.8297A>C (p.Tyr2766Ser)
c.5894A>C (p.Tyr1965Ser)
2g.237340616T=CA1337608724COL6A3c.945A=
c.7682A= (p.Tyr2561=)
c.303A=
n.567A=
c.8300A= (p.Tyr2767=)
c.6476A= (p.Tyr2159=)
c.6479A= (p.Tyr2160=)
n.4742A=
c.7700A= (p.Tyr2567=)
c.7079A= (p.Tyr2360=)
c.7799A= (p.Tyr2600=)
c.8297A= (p.Tyr2766=)
c.5894A= (p.Tyr1965=)
2g.237340617A>CCA351195386COL6A3c.944T>G
c.7681T>G (p.Tyr2561Asp)
c.302T>G
n.566T>G
c.8299T>G (p.Tyr2767Asp)
c.6475T>G (p.Tyr2159Asp)
c.6478T>G (p.Tyr2160Asp)
n.4741T>G
c.7699T>G (p.Tyr2567Asp)
c.7078T>G (p.Tyr2360Asp)
c.7798T>G (p.Tyr2600Asp)
c.8296T>G (p.Tyr2766Asp)
c.5893T>G (p.Tyr1965Asp)
2g.237340617A>GCA351195383COL6A3c.944T>C
c.7681T>C (p.Tyr2561His)
c.302T>C
n.566T>C
c.8299T>C (p.Tyr2767His)
c.6475T>C (p.Tyr2159His)
c.6478T>C (p.Tyr2160His)
n.4741T>C
c.7699T>C (p.Tyr2567His)
c.7078T>C (p.Tyr2360His)
c.7798T>C (p.Tyr2600His)
c.8296T>C (p.Tyr2766His)
c.5893T>C (p.Tyr1965His)
 gnomAD v4
2g.237340617A>TCA351195381COL6A3c.944T>A
c.7681T>A (p.Tyr2561Asn)
c.302T>A
n.566T>A
c.8299T>A (p.Tyr2767Asn)
c.6475T>A (p.Tyr2159Asn)
c.6478T>A (p.Tyr2160Asn)
n.4741T>A
c.7699T>A (p.Tyr2567Asn)
c.7078T>A (p.Tyr2360Asn)
c.7798T>A (p.Tyr2600Asn)
c.8296T>A (p.Tyr2766Asn)
c.5893T>A (p.Tyr1965Asn)
2g.237340618G>ACA431702036COL6A3c.943C>T
c.7680C>T (p.Gly2560=)
c.301C>T
n.565C>T
c.8298C>T (p.Gly2766=)
c.6474C>T (p.Gly2158=)
c.6477C>T (p.Gly2159=)
n.4740C>T
c.7698C>T (p.Gly2566=)
c.7077C>T (p.Gly2359=)
c.7797C>T (p.Gly2599=)
c.8295C>T (p.Gly2765=)
c.5892C>T (p.Gly1964=)
2g.237340618G>CCA431702034COL6A3c.943C>G
c.7680C>G (p.Gly2560=)
c.301C>G
n.565C>G
c.8298C>G (p.Gly2766=)
c.6474C>G (p.Gly2158=)
c.6477C>G (p.Gly2159=)
n.4740C>G
c.7698C>G (p.Gly2566=)
c.7077C>G (p.Gly2359=)
c.7797C>G (p.Gly2599=)
c.8295C>G (p.Gly2765=)
c.5892C>G (p.Gly1964=)
2g.237340618G>TCA431702035COL6A3c.943C>A
c.7680C>A (p.Gly2560=)
c.301C>A
n.565C>A
c.8298C>A (p.Gly2766=)
c.6474C>A (p.Gly2158=)
c.6477C>A (p.Gly2159=)
n.4740C>A
c.7698C>A (p.Gly2566=)
c.7077C>A (p.Gly2359=)
c.7797C>A (p.Gly2599=)
c.8295C>A (p.Gly2765=)
c.5892C>A (p.Gly1964=)
2g.237340619C>ACA351195392COL6A3c.942G>T
c.7679G>T (p.Gly2560Val)
c.300G>T
n.564G>T
c.8297G>T (p.Gly2766Val)
c.6473G>T (p.Gly2158Val)
c.6476G>T (p.Gly2159Val)
n.4739G>T
c.7697G>T (p.Gly2566Val)
c.7076G>T (p.Gly2359Val)
c.7796G>T (p.Gly2599Val)
c.8294G>T (p.Gly2765Val)
c.5891G>T (p.Gly1964Val)
2g.237340619C=CA1337608727COL6A3c.942G=
c.7679G= (p.Gly2560=)
c.300G=
n.564G=
c.8297G= (p.Gly2766=)
c.6473G= (p.Gly2158=)
c.6476G= (p.Gly2159=)
n.4739G=
c.7697G= (p.Gly2566=)
c.7076G= (p.Gly2359=)
c.7796G= (p.Gly2599=)
c.8294G= (p.Gly2765=)
c.5891G= (p.Gly1964=)
2g.237340619C>GCA351195396COL6A3c.942G>C
c.7679G>C (p.Gly2560Ala)
c.300G>C
n.564G>C
c.8297G>C (p.Gly2766Ala)
c.6473G>C (p.Gly2158Ala)
c.6476G>C (p.Gly2159Ala)
n.4739G>C
c.7697G>C (p.Gly2566Ala)
c.7076G>C (p.Gly2359Ala)
c.7796G>C (p.Gly2599Ala)
c.8294G>C (p.Gly2765Ala)
c.5891G>C (p.Gly1964Ala)
2g.237340619C>TCA67835601COL6A3c.942G>A
c.7679G>A (p.Gly2560Asp)
c.300G>A
n.564G>A
c.8297G>A (p.Gly2766Asp)
c.6473G>A (p.Gly2158Asp)
c.6476G>A (p.Gly2159Asp)
n.4739G>A
c.7697G>A (p.Gly2566Asp)
c.7076G>A (p.Gly2359Asp)
c.7796G>A (p.Gly2599Asp)
c.8294G>A (p.Gly2765Asp)
c.5891G>A (p.Gly1964Asp)
 dbSNP gnomAD v4
2g.237340620C>ACA351195403COL6A3c.941G>T
c.7678G>T (p.Gly2560Cys)
c.299G>T
n.563G>T
c.8296G>T (p.Gly2766Cys)
c.6472G>T (p.Gly2158Cys)
c.6475G>T (p.Gly2159Cys)
n.4738G>T
c.7696G>T (p.Gly2566Cys)
c.7075G>T (p.Gly2359Cys)
c.7795G>T (p.Gly2599Cys)
c.8293G>T (p.Gly2765Cys)
c.5890G>T (p.Gly1964Cys)
2g.237340620C=CA1337608729COL6A3c.941G=
c.7678G= (p.Gly2560=)
c.299G=
n.563G=
c.8296G= (p.Gly2766=)
c.6472G= (p.Gly2158=)
c.6475G= (p.Gly2159=)
n.4738G=
c.7696G= (p.Gly2566=)
c.7075G= (p.Gly2359=)
c.7795G= (p.Gly2599=)
c.8293G= (p.Gly2765=)
c.5890G= (p.Gly1964=)
2g.237340620C>GCA351195409COL6A3c.941G>C
c.7678G>C (p.Gly2560Arg)
c.299G>C
n.563G>C
c.8296G>C (p.Gly2766Arg)
c.6472G>C (p.Gly2158Arg)
c.6475G>C (p.Gly2159Arg)
n.4738G>C
c.7696G>C (p.Gly2566Arg)
c.7075G>C (p.Gly2359Arg)
c.7795G>C (p.Gly2599Arg)
c.8293G>C (p.Gly2765Arg)
c.5890G>C (p.Gly1964Arg)
2g.237340620C>TCA351195412COL6A3c.941G>A
c.7678G>A (p.Gly2560Ser)
c.299G>A
n.563G>A
c.8296G>A (p.Gly2766Ser)
c.6472G>A (p.Gly2158Ser)
c.6475G>A (p.Gly2159Ser)
n.4738G>A
c.7696G>A (p.Gly2566Ser)
c.7075G>A (p.Gly2359Ser)
c.7795G>A (p.Gly2599Ser)
c.8293G>A (p.Gly2765Ser)
c.5890G>A (p.Gly1964Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.237340621C>ACA351195420COL6A3c.940G>T
c.7677G>T (p.Lys2559Asn)
c.298G>T
n.562G>T
c.8295G>T (p.Lys2765Asn)
c.6471G>T (p.Lys2157Asn)
c.6474G>T (p.Lys2158Asn)
n.4737G>T
c.7695G>T (p.Lys2565Asn)
c.7074G>T (p.Lys2358Asn)
c.7794G>T (p.Lys2598Asn)
c.8292G>T (p.Lys2764Asn)
c.5889G>T (p.Lys1963Asn)
2g.237340621C=CA1337608733COL6A3c.940G=
c.7677G= (p.Lys2559=)
c.298G=
n.562G=
c.8295G= (p.Lys2765=)
c.6471G= (p.Lys2157=)
c.6474G= (p.Lys2158=)
n.4737G=
c.7695G= (p.Lys2565=)
c.7074G= (p.Lys2358=)
c.7794G= (p.Lys2598=)
c.8292G= (p.Lys2764=)
c.5889G= (p.Lys1963=)
2g.237340621C>GCA351195422COL6A3c.940G>C
c.7677G>C (p.Lys2559Asn)
c.298G>C
n.562G>C
c.8295G>C (p.Lys2765Asn)
c.6471G>C (p.Lys2157Asn)
c.6474G>C (p.Lys2158Asn)
n.4737G>C
c.7695G>C (p.Lys2565Asn)
c.7074G>C (p.Lys2358Asn)
c.7794G>C (p.Lys2598Asn)
c.8292G>C (p.Lys2764Asn)
c.5889G>C (p.Lys1963Asn)
2g.237340621C>TCA2187580COL6A3c.940G>A
c.7677G>A (p.Lys2559=)
c.298G>A
n.562G>A
c.8295G>A (p.Lys2765=)
c.6471G>A (p.Lys2157=)
c.6474G>A (p.Lys2158=)
n.4737G>A
c.7695G>A (p.Lys2565=)
c.7074G>A (p.Lys2358=)
c.7794G>A (p.Lys2598=)
c.8292G>A (p.Lys2764=)
c.5889G>A (p.Lys1963=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340622T>ACA351195425COL6A3c.939A>T
c.7676A>T (p.Lys2559Met)
c.297A>T
n.561A>T
c.8294A>T (p.Lys2765Met)
c.6470A>T (p.Lys2157Met)
c.6473A>T (p.Lys2158Met)
n.4736A>T
c.7694A>T (p.Lys2565Met)
c.7073A>T (p.Lys2358Met)
c.7793A>T (p.Lys2598Met)
c.8291A>T (p.Lys2764Met)
c.5888A>T (p.Lys1963Met)
 dbSNP gnomAD v3 gnomAD v4
2g.237340622T>CCA351195428COL6A3c.939A>G
c.7676A>G (p.Lys2559Arg)
c.297A>G
n.561A>G
c.8294A>G (p.Lys2765Arg)
c.6470A>G (p.Lys2157Arg)
c.6473A>G (p.Lys2158Arg)
n.4736A>G
c.7694A>G (p.Lys2565Arg)
c.7073A>G (p.Lys2358Arg)
c.7793A>G (p.Lys2598Arg)
c.8291A>G (p.Lys2764Arg)
c.5888A>G (p.Lys1963Arg)
2g.237340622T>GCA351195431COL6A3c.939A>C
c.7676A>C (p.Lys2559Thr)
c.297A>C
n.561A>C
c.8294A>C (p.Lys2765Thr)
c.6470A>C (p.Lys2157Thr)
c.6473A>C (p.Lys2158Thr)
n.4736A>C
c.7694A>C (p.Lys2565Thr)
c.7073A>C (p.Lys2358Thr)
c.7793A>C (p.Lys2598Thr)
c.8291A>C (p.Lys2764Thr)
c.5888A>C (p.Lys1963Thr)
 gnomAD v4
2g.237340622T=CA1337608735COL6A3c.939A=
c.7676A= (p.Lys2559=)
c.297A=
n.561A=
c.8294A= (p.Lys2765=)
c.6470A= (p.Lys2157=)
c.6473A= (p.Lys2158=)
n.4736A=
c.7694A= (p.Lys2565=)
c.7073A= (p.Lys2358=)
c.7793A= (p.Lys2598=)
c.8291A= (p.Lys2764=)
c.5888A= (p.Lys1963=)
2g.237340623T>ACA351195443COL6A3c.938A>T
c.7675A>T (p.Lys2559Ter)
c.296A>T
n.560A>T
c.8293A>T (p.Lys2765Ter)
c.6469A>T (p.Lys2157Ter)
c.6472A>T (p.Lys2158Ter)
n.4735A>T
c.7693A>T (p.Lys2565Ter)
c.7072A>T (p.Lys2358Ter)
c.7792A>T (p.Lys2598Ter)
c.8290A>T (p.Lys2764Ter)
c.5887A>T (p.Lys1963Ter)
2g.237340623T>CCA351195446COL6A3c.938A>G
c.7675A>G (p.Lys2559Glu)
c.296A>G
n.560A>G
c.8293A>G (p.Lys2765Glu)
c.6469A>G (p.Lys2157Glu)
c.6472A>G (p.Lys2158Glu)
n.4735A>G
c.7693A>G (p.Lys2565Glu)
c.7072A>G (p.Lys2358Glu)
c.7792A>G (p.Lys2598Glu)
c.8290A>G (p.Lys2764Glu)
c.5887A>G (p.Lys1963Glu)
 dbSNP gnomAD v4
2g.237340623T>GCA351195437COL6A3c.938A>C
c.7675A>C (p.Lys2559Gln)
c.296A>C
n.560A>C
c.8293A>C (p.Lys2765Gln)
c.6469A>C (p.Lys2157Gln)
c.6472A>C (p.Lys2158Gln)
n.4735A>C
c.7693A>C (p.Lys2565Gln)
c.7072A>C (p.Lys2358Gln)
c.7792A>C (p.Lys2598Gln)
c.8290A>C (p.Lys2764Gln)
c.5887A>C (p.Lys1963Gln)
2g.237340623T=CA1337608739COL6A3c.938A=
c.7675A= (p.Lys2559=)
c.296A=
n.560A=
c.8293A= (p.Lys2765=)
c.6469A= (p.Lys2157=)
c.6472A= (p.Lys2158=)
n.4735A=
c.7693A= (p.Lys2565=)
c.7072A= (p.Lys2358=)
c.7792A= (p.Lys2598=)
c.8290A= (p.Lys2764=)
c.5887A= (p.Lys1963=)
2g.237340624G>ACA431702083COL6A3c.937C>T
c.7674C>T (p.Cys2558=)
c.295C>T
n.559C>T
c.8292C>T (p.Cys2764=)
c.6468C>T (p.Cys2156=)
c.6471C>T (p.Cys2157=)
n.4734C>T
c.7692C>T (p.Cys2564=)
c.7071C>T (p.Cys2357=)
c.7791C>T (p.Cys2597=)
c.8289C>T (p.Cys2763=)
c.5886C>T (p.Cys1962=)
2g.237340624G>CCA351195448COL6A3c.937C>G
c.7674C>G (p.Cys2558Trp)
c.295C>G
n.559C>G
c.8292C>G (p.Cys2764Trp)
c.6468C>G (p.Cys2156Trp)
c.6471C>G (p.Cys2157Trp)
n.4734C>G
c.7692C>G (p.Cys2564Trp)
c.7071C>G (p.Cys2357Trp)
c.7791C>G (p.Cys2597Trp)
c.8289C>G (p.Cys2763Trp)
c.5886C>G (p.Cys1962Trp)
2g.237340624G>TCA351195451COL6A3c.937C>A
c.7674C>A (p.Cys2558Ter)
c.295C>A
n.559C>A
c.8292C>A (p.Cys2764Ter)
c.6468C>A (p.Cys2156Ter)
c.6471C>A (p.Cys2157Ter)
n.4734C>A
c.7692C>A (p.Cys2564Ter)
c.7071C>A (p.Cys2357Ter)
c.7791C>A (p.Cys2597Ter)
c.8289C>A (p.Cys2763Ter)
c.5886C>A (p.Cys1962Ter)
2g.237340625C>ACA351195456COL6A3c.936G>T
c.7673G>T (p.Cys2558Phe)
c.294G>T
n.558G>T
c.8291G>T (p.Cys2764Phe)
c.6467G>T (p.Cys2156Phe)
c.6470G>T (p.Cys2157Phe)
n.4733G>T
c.7691G>T (p.Cys2564Phe)
c.7070G>T (p.Cys2357Phe)
c.7790G>T (p.Cys2597Phe)
c.8288G>T (p.Cys2763Phe)
c.5885G>T (p.Cys1962Phe)
2g.237340625C=CA1337608742COL6A3c.936G=
c.7673G= (p.Cys2558=)
c.294G=
n.558G=
c.8291G= (p.Cys2764=)
c.6467G= (p.Cys2156=)
c.6470G= (p.Cys2157=)
n.4733G=
c.7691G= (p.Cys2564=)
c.7070G= (p.Cys2357=)
c.7790G= (p.Cys2597=)
c.8288G= (p.Cys2763=)
c.5885G= (p.Cys1962=)
2g.237340625C>GCA351195459COL6A3c.936G>C
c.7673G>C (p.Cys2558Ser)
c.294G>C
n.558G>C
c.8291G>C (p.Cys2764Ser)
c.6467G>C (p.Cys2156Ser)
c.6470G>C (p.Cys2157Ser)
n.4733G>C
c.7691G>C (p.Cys2564Ser)
c.7070G>C (p.Cys2357Ser)
c.7790G>C (p.Cys2597Ser)
c.8288G>C (p.Cys2763Ser)
c.5885G>C (p.Cys1962Ser)
2g.237340625C>TCA351195463COL6A3c.936G>A
c.7673G>A (p.Cys2558Tyr)
c.294G>A
n.558G>A
c.8291G>A (p.Cys2764Tyr)
c.6467G>A (p.Cys2156Tyr)
c.6470G>A (p.Cys2157Tyr)
n.4733G>A
c.7691G>A (p.Cys2564Tyr)
c.7070G>A (p.Cys2357Tyr)
c.7790G>A (p.Cys2597Tyr)
c.8288G>A (p.Cys2763Tyr)
c.5885G>A (p.Cys1962Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237340626A=CA1337608748COL6A3c.935T=
c.7672T= (p.Cys2558=)
c.293T=
n.557T=
c.8290T= (p.Cys2764=)
c.6466T= (p.Cys2156=)
c.6469T= (p.Cys2157=)
n.4732T=
c.7690T= (p.Cys2564=)
c.7069T= (p.Cys2357=)
c.7789T= (p.Cys2597=)
c.8287T= (p.Cys2763=)
c.5884T= (p.Cys1962=)
2g.237340626A>CCA2187581COL6A3c.935T>G
c.7672T>G (p.Cys2558Gly)
c.293T>G
n.557T>G
c.8290T>G (p.Cys2764Gly)
c.6466T>G (p.Cys2156Gly)
c.6469T>G (p.Cys2157Gly)
n.4732T>G
c.7690T>G (p.Cys2564Gly)
c.7069T>G (p.Cys2357Gly)
c.7789T>G (p.Cys2597Gly)
c.8287T>G (p.Cys2763Gly)
c.5884T>G (p.Cys1962Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340626A>GCA351195467COL6A3c.935T>C
c.7672T>C (p.Cys2558Arg)
c.293T>C
n.557T>C
c.8290T>C (p.Cys2764Arg)
c.6466T>C (p.Cys2156Arg)
c.6469T>C (p.Cys2157Arg)
n.4732T>C
c.7690T>C (p.Cys2564Arg)
c.7069T>C (p.Cys2357Arg)
c.7789T>C (p.Cys2597Arg)
c.8287T>C (p.Cys2763Arg)
c.5884T>C (p.Cys1962Arg)
 dbSNP gnomAD v4
2g.237340626A>TCA351195471COL6A3c.935T>A
c.7672T>A (p.Cys2558Ser)
c.293T>A
n.557T>A
c.8290T>A (p.Cys2764Ser)
c.6466T>A (p.Cys2156Ser)
c.6469T>A (p.Cys2157Ser)
n.4732T>A
c.7690T>A (p.Cys2564Ser)
c.7069T>A (p.Cys2357Ser)
c.7789T>A (p.Cys2597Ser)
c.8287T>A (p.Cys2763Ser)
c.5884T>A (p.Cys1962Ser)
2g.237340627T>ACA351195474COL6A3c.934A>T
c.7671A>T (p.Lys2557Asn)
c.292A>T
n.556A>T
c.8289A>T (p.Lys2763Asn)
c.6465A>T (p.Lys2155Asn)
c.6468A>T (p.Lys2156Asn)
n.4731A>T
c.7689A>T (p.Lys2563Asn)
c.7068A>T (p.Lys2356Asn)
c.7788A>T (p.Lys2596Asn)
c.8286A>T (p.Lys2762Asn)
c.5883A>T (p.Lys1961Asn)
2g.237340627T>CCA431702111COL6A3c.934A>G
c.7671A>G (p.Lys2557=)
c.292A>G
n.556A>G
c.8289A>G (p.Lys2763=)
c.6465A>G (p.Lys2155=)
c.6468A>G (p.Lys2156=)
n.4731A>G
c.7689A>G (p.Lys2563=)
c.7068A>G (p.Lys2356=)
c.7788A>G (p.Lys2596=)
c.8286A>G (p.Lys2762=)
c.5883A>G (p.Lys1961=)
2g.237340627T>GCA2187582COL6A3c.934A>C
c.7671A>C (p.Lys2557Asn)
c.292A>C
n.556A>C
c.8289A>C (p.Lys2763Asn)
c.6465A>C (p.Lys2155Asn)
c.6468A>C (p.Lys2156Asn)
n.4731A>C
c.7689A>C (p.Lys2563Asn)
c.7068A>C (p.Lys2356Asn)
c.7788A>C (p.Lys2596Asn)
c.8286A>C (p.Lys2762Asn)
c.5883A>C (p.Lys1961Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340627T=CA1337608756COL6A3c.934A=
c.7671A= (p.Lys2557=)
c.292A=
n.556A=
c.8289A= (p.Lys2763=)
c.6465A= (p.Lys2155=)
c.6468A= (p.Lys2156=)
n.4731A=
c.7689A= (p.Lys2563=)
c.7068A= (p.Lys2356=)
c.7788A= (p.Lys2596=)
c.8286A= (p.Lys2762=)
c.5883A= (p.Lys1961=)
2g.237340628T>ACA351195482COL6A3c.933A>T
c.7670A>T (p.Lys2557Ile)
c.291A>T
n.555A>T
c.8288A>T (p.Lys2763Ile)
c.6464A>T (p.Lys2155Ile)
c.6467A>T (p.Lys2156Ile)
n.4730A>T
c.7688A>T (p.Lys2563Ile)
c.7067A>T (p.Lys2356Ile)
c.7787A>T (p.Lys2596Ile)
c.8285A>T (p.Lys2762Ile)
c.5882A>T (p.Lys1961Ile)
2g.237340628T>CCA351195486COL6A3c.933A>G
c.7670A>G (p.Lys2557Arg)
c.291A>G
n.555A>G
c.8288A>G (p.Lys2763Arg)
c.6464A>G (p.Lys2155Arg)
c.6467A>G (p.Lys2156Arg)
n.4730A>G
c.7688A>G (p.Lys2563Arg)
c.7067A>G (p.Lys2356Arg)
c.7787A>G (p.Lys2596Arg)
c.8285A>G (p.Lys2762Arg)
c.5882A>G (p.Lys1961Arg)
 gnomAD v4 COSMIC
2g.237340628T>GCA351195495COL6A3c.933A>C
c.7670A>C (p.Lys2557Thr)
c.291A>C
n.555A>C
c.8288A>C (p.Lys2763Thr)
c.6464A>C (p.Lys2155Thr)
c.6467A>C (p.Lys2156Thr)
n.4730A>C
c.7688A>C (p.Lys2563Thr)
c.7067A>C (p.Lys2356Thr)
c.7787A>C (p.Lys2596Thr)
c.8285A>C (p.Lys2762Thr)
c.5882A>C (p.Lys1961Thr)
2g.237340629T>ACA351195500COL6A3c.932A>T
c.7669A>T (p.Lys2557Ter)
c.290A>T
n.554A>T
c.8287A>T (p.Lys2763Ter)
c.6463A>T (p.Lys2155Ter)
c.6466A>T (p.Lys2156Ter)
n.4729A>T
c.7687A>T (p.Lys2563Ter)
c.7066A>T (p.Lys2356Ter)
c.7786A>T (p.Lys2596Ter)
c.8284A>T (p.Lys2762Ter)
c.5881A>T (p.Lys1961Ter)
2g.237340629T>CCA351195505COL6A3c.932A>G
c.7669A>G (p.Lys2557Glu)
c.290A>G
n.554A>G
c.8287A>G (p.Lys2763Glu)
c.6463A>G (p.Lys2155Glu)
c.6466A>G (p.Lys2156Glu)
n.4729A>G
c.7687A>G (p.Lys2563Glu)
c.7066A>G (p.Lys2356Glu)
c.7786A>G (p.Lys2596Glu)
c.8284A>G (p.Lys2762Glu)
c.5881A>G (p.Lys1961Glu)
2g.237340629T>GCA351195503COL6A3c.932A>C
c.7669A>C (p.Lys2557Gln)
c.290A>C
n.554A>C
c.8287A>C (p.Lys2763Gln)
c.6463A>C (p.Lys2155Gln)
c.6466A>C (p.Lys2156Gln)
n.4729A>C
c.7687A>C (p.Lys2563Gln)
c.7066A>C (p.Lys2356Gln)
c.7786A>C (p.Lys2596Gln)
c.8284A>C (p.Lys2762Gln)
c.5881A>C (p.Lys1961Gln)
2g.237340630G>ACA431702121COL6A3c.931C>T
c.7668C>T (p.Ala2556=)
c.289C>T
n.553C>T
c.8286C>T (p.Ala2762=)
c.6462C>T (p.Ala2154=)
c.6465C>T (p.Ala2155=)
n.4728C>T
c.7686C>T (p.Ala2562=)
c.7065C>T (p.Ala2355=)
c.7785C>T (p.Ala2595=)
c.8283C>T (p.Ala2761=)
c.5880C>T (p.Ala1960=)
2g.237340630G>CCA431702122COL6A3c.931C>G
c.7668C>G (p.Ala2556=)
c.289C>G
n.553C>G
c.8286C>G (p.Ala2762=)
c.6462C>G (p.Ala2154=)
c.6465C>G (p.Ala2155=)
n.4728C>G
c.7686C>G (p.Ala2562=)
c.7065C>G (p.Ala2355=)
c.7785C>G (p.Ala2595=)
c.8283C>G (p.Ala2761=)
c.5880C>G (p.Ala1960=)
2g.237340630G>TCA431702124COL6A3c.931C>A
c.7668C>A (p.Ala2556=)
c.289C>A
n.553C>A
c.8286C>A (p.Ala2762=)
c.6462C>A (p.Ala2154=)
c.6465C>A (p.Ala2155=)
n.4728C>A
c.7686C>A (p.Ala2562=)
c.7065C>A (p.Ala2355=)
c.7785C>A (p.Ala2595=)
c.8283C>A (p.Ala2761=)
c.5880C>A (p.Ala1960=)
 gnomAD v4
2g.237340631G>ACA351195512COL6A3c.930C>T
c.7667C>T (p.Ala2556Val)
c.288C>T
n.552C>T
c.8285C>T (p.Ala2762Val)
c.6461C>T (p.Ala2154Val)
c.6464C>T (p.Ala2155Val)
n.4727C>T
c.7685C>T (p.Ala2562Val)
c.7064C>T (p.Ala2355Val)
c.7784C>T (p.Ala2595Val)
c.8282C>T (p.Ala2761Val)
c.5879C>T (p.Ala1960Val)
2g.237340631G>CCA351195518COL6A3c.930C>G
c.7667C>G (p.Ala2556Gly)
c.288C>G
n.552C>G
c.8285C>G (p.Ala2762Gly)
c.6461C>G (p.Ala2154Gly)
c.6464C>G (p.Ala2155Gly)
n.4727C>G
c.7685C>G (p.Ala2562Gly)
c.7064C>G (p.Ala2355Gly)
c.7784C>G (p.Ala2595Gly)
c.8282C>G (p.Ala2761Gly)
c.5879C>G (p.Ala1960Gly)
2g.237340631G>TCA351195513COL6A3c.930C>A
c.7667C>A (p.Ala2556Asp)
c.288C>A
n.552C>A
c.8285C>A (p.Ala2762Asp)
c.6461C>A (p.Ala2154Asp)
c.6464C>A (p.Ala2155Asp)
n.4727C>A
c.7685C>A (p.Ala2562Asp)
c.7064C>A (p.Ala2355Asp)
c.7784C>A (p.Ala2595Asp)
c.8282C>A (p.Ala2761Asp)
c.5879C>A (p.Ala1960Asp)
2g.237340632C>ACA351195519COL6A3c.929G>T
c.7666G>T (p.Ala2556Ser)
c.287G>T
n.551G>T
c.8284G>T (p.Ala2762Ser)
c.6460G>T (p.Ala2154Ser)
c.6463G>T (p.Ala2155Ser)
n.4726G>T
c.7684G>T (p.Ala2562Ser)
c.7063G>T (p.Ala2355Ser)
c.7783G>T (p.Ala2595Ser)
c.8281G>T (p.Ala2761Ser)
c.5878G>T (p.Ala1960Ser)
2g.237340632C>GCA351195521COL6A3c.929G>C
c.7666G>C (p.Ala2556Pro)
c.287G>C
n.551G>C
c.8284G>C (p.Ala2762Pro)
c.6460G>C (p.Ala2154Pro)
c.6463G>C (p.Ala2155Pro)
n.4726G>C
c.7684G>C (p.Ala2562Pro)
c.7063G>C (p.Ala2355Pro)
c.7783G>C (p.Ala2595Pro)
c.8281G>C (p.Ala2761Pro)
c.5878G>C (p.Ala1960Pro)
2g.237340632C>TCA351195520COL6A3c.929G>A
c.7666G>A (p.Ala2556Thr)
c.287G>A
n.551G>A
c.8284G>A (p.Ala2762Thr)
c.6460G>A (p.Ala2154Thr)
c.6463G>A (p.Ala2155Thr)
n.4726G>A
c.7684G>A (p.Ala2562Thr)
c.7063G>A (p.Ala2355Thr)
c.7783G>A (p.Ala2595Thr)
c.8281G>A (p.Ala2761Thr)
c.5878G>A (p.Ala1960Thr)
 gnomAD v4
2g.237340633C>ACA351195524COL6A3c.928G>T
c.7665G>T (p.Gln2555His)
c.286G>T
n.550G>T
c.8283G>T (p.Gln2761His)
c.6459G>T (p.Gln2153His)
c.6462G>T (p.Gln2154His)
n.4725G>T
c.7683G>T (p.Gln2561His)
c.7062G>T (p.Gln2354His)
c.7782G>T (p.Gln2594His)
c.8280G>T (p.Gln2760His)
c.5877G>T (p.Gln1959His)
2g.237340633C>GCA351195534COL6A3c.928G>C
c.7665G>C (p.Gln2555His)
c.286G>C
n.550G>C
c.8283G>C (p.Gln2761His)
c.6459G>C (p.Gln2153His)
c.6462G>C (p.Gln2154His)
n.4725G>C
c.7683G>C (p.Gln2561His)
c.7062G>C (p.Gln2354His)
c.7782G>C (p.Gln2594His)
c.8280G>C (p.Gln2760His)
c.5877G>C (p.Gln1959His)
2g.237340633C>TCA431702136COL6A3c.928G>A
c.7665G>A (p.Gln2555=)
c.286G>A
n.550G>A
c.8283G>A (p.Gln2761=)
c.6459G>A (p.Gln2153=)
c.6462G>A (p.Gln2154=)
n.4725G>A
c.7683G>A (p.Gln2561=)
c.7062G>A (p.Gln2354=)
c.7782G>A (p.Gln2594=)
c.8280G>A (p.Gln2760=)
c.5877G>A (p.Gln1959=)
2g.237340634T>ACA351195535COL6A3c.927A>T
c.7664A>T (p.Gln2555Leu)
c.285A>T
n.549A>T
c.8282A>T (p.Gln2761Leu)
c.6458A>T (p.Gln2153Leu)
c.6461A>T (p.Gln2154Leu)
n.4724A>T
c.7682A>T (p.Gln2561Leu)
c.7061A>T (p.Gln2354Leu)
c.7781A>T (p.Gln2594Leu)
c.8279A>T (p.Gln2760Leu)
c.5876A>T (p.Gln1959Leu)
2g.237340634T>CCA351195537COL6A3c.927A>G
c.7664A>G (p.Gln2555Arg)
c.285A>G
n.549A>G
c.8282A>G (p.Gln2761Arg)
c.6458A>G (p.Gln2153Arg)
c.6461A>G (p.Gln2154Arg)
n.4724A>G
c.7682A>G (p.Gln2561Arg)
c.7061A>G (p.Gln2354Arg)
c.7781A>G (p.Gln2594Arg)
c.8279A>G (p.Gln2760Arg)
c.5876A>G (p.Gln1959Arg)
2g.237340634T>GCA351195539COL6A3c.927A>C
c.7664A>C (p.Gln2555Pro)
c.285A>C
n.549A>C
c.8282A>C (p.Gln2761Pro)
c.6458A>C (p.Gln2153Pro)
c.6461A>C (p.Gln2154Pro)
n.4724A>C
c.7682A>C (p.Gln2561Pro)
c.7061A>C (p.Gln2354Pro)
c.7781A>C (p.Gln2594Pro)
c.8279A>C (p.Gln2760Pro)
c.5876A>C (p.Gln1959Pro)
2g.237340635G>ACA351195546COL6A3c.926C>T
c.7663C>T (p.Gln2555Ter)
c.284C>T
n.548C>T
c.8281C>T (p.Gln2761Ter)
c.6457C>T (p.Gln2153Ter)
c.6460C>T (p.Gln2154Ter)
n.4723C>T
c.7681C>T (p.Gln2561Ter)
c.7060C>T (p.Gln2354Ter)
c.7780C>T (p.Gln2594Ter)
c.8278C>T (p.Gln2760Ter)
c.5875C>T (p.Gln1959Ter)
 ClinVar dbSNP
2g.237340635G>CCA351195549COL6A3c.926C>G
c.7663C>G (p.Gln2555Glu)
c.284C>G
n.548C>G
c.8281C>G (p.Gln2761Glu)
c.6457C>G (p.Gln2153Glu)
c.6460C>G (p.Gln2154Glu)
n.4723C>G
c.7681C>G (p.Gln2561Glu)
c.7060C>G (p.Gln2354Glu)
c.7780C>G (p.Gln2594Glu)
c.8278C>G (p.Gln2760Glu)
c.5875C>G (p.Gln1959Glu)
2g.237340635G=CA1337608764COL6A3c.926C=
c.7663C= (p.Gln2555=)
c.284C=
n.548C=
c.8281C= (p.Gln2761=)
c.6457C= (p.Gln2153=)
c.6460C= (p.Gln2154=)
n.4723C=
c.7681C= (p.Gln2561=)
c.7060C= (p.Gln2354=)
c.7780C= (p.Gln2594=)
c.8278C= (p.Gln2760=)
c.5875C= (p.Gln1959=)
2g.237340635G>TCA351195557COL6A3c.926C>A
c.7663C>A (p.Gln2555Lys)
c.284C>A
n.548C>A
c.8281C>A (p.Gln2761Lys)
c.6457C>A (p.Gln2153Lys)
c.6460C>A (p.Gln2154Lys)
n.4723C>A
c.7681C>A (p.Gln2561Lys)
c.7060C>A (p.Gln2354Lys)
c.7780C>A (p.Gln2594Lys)
c.8278C>A (p.Gln2760Lys)
c.5875C>A (p.Gln1959Lys)
 COSMIC
2g.237340636C>ACA2187583COL6A3c.925G>T
c.7662G>T (p.Leu2554=)
c.283G>T
n.547G>T
c.8280G>T (p.Leu2760=)
c.6456G>T (p.Leu2152=)
c.6459G>T (p.Leu2153=)
n.4722G>T
c.7680G>T (p.Leu2560=)
c.7059G>T (p.Leu2353=)
c.7779G>T (p.Leu2593=)
c.8277G>T (p.Leu2759=)
c.5874G>T (p.Leu1958=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340636C=CA1337608767COL6A3c.925G=
c.7662G= (p.Leu2554=)
c.283G=
n.547G=
c.8280G= (p.Leu2760=)
c.6456G= (p.Leu2152=)
c.6459G= (p.Leu2153=)
n.4722G=
c.7680G= (p.Leu2560=)
c.7059G= (p.Leu2353=)
c.7779G= (p.Leu2593=)
c.8277G= (p.Leu2759=)
c.5874G= (p.Leu1958=)
2g.237340636C>GCA431702152COL6A3c.925G>C
c.7662G>C (p.Leu2554=)
c.283G>C
n.547G>C
c.8280G>C (p.Leu2760=)
c.6456G>C (p.Leu2152=)
c.6459G>C (p.Leu2153=)
n.4722G>C
c.7680G>C (p.Leu2560=)
c.7059G>C (p.Leu2353=)
c.7779G>C (p.Leu2593=)
c.8277G>C (p.Leu2759=)
c.5874G>C (p.Leu1958=)
2g.237340636C>TCA431702154COL6A3c.925G>A
c.7662G>A (p.Leu2554=)
c.283G>A
n.547G>A
c.8280G>A (p.Leu2760=)
c.6456G>A (p.Leu2152=)
c.6459G>A (p.Leu2153=)
n.4722G>A
c.7680G>A (p.Leu2560=)
c.7059G>A (p.Leu2353=)
c.7779G>A (p.Leu2593=)
c.8277G>A (p.Leu2759=)
c.5874G>A (p.Leu1958=)
 dbSNP
2g.237340637A>CCA351195563COL6A3c.924T>G
c.7661T>G (p.Leu2554Arg)
c.282T>G
n.546T>G
c.8279T>G (p.Leu2760Arg)
c.6455T>G (p.Leu2152Arg)
c.6458T>G (p.Leu2153Arg)
n.4721T>G
c.7679T>G (p.Leu2560Arg)
c.7058T>G (p.Leu2353Arg)
c.7778T>G (p.Leu2593Arg)
c.8276T>G (p.Leu2759Arg)
c.5873T>G (p.Leu1958Arg)
2g.237340637A>GCA351195566COL6A3c.924T>C
c.7661T>C (p.Leu2554Pro)
c.282T>C
n.546T>C
c.8279T>C (p.Leu2760Pro)
c.6455T>C (p.Leu2152Pro)
c.6458T>C (p.Leu2153Pro)
n.4721T>C
c.7679T>C (p.Leu2560Pro)
c.7058T>C (p.Leu2353Pro)
c.7778T>C (p.Leu2593Pro)
c.8276T>C (p.Leu2759Pro)
c.5873T>C (p.Leu1958Pro)
2g.237340637A>TCA351195570COL6A3c.924T>A
c.7661T>A (p.Leu2554Gln)
c.282T>A
n.546T>A
c.8279T>A (p.Leu2760Gln)
c.6455T>A (p.Leu2152Gln)
c.6458T>A (p.Leu2153Gln)
n.4721T>A
c.7679T>A (p.Leu2560Gln)
c.7058T>A (p.Leu2353Gln)
c.7778T>A (p.Leu2593Gln)
c.8276T>A (p.Leu2759Gln)
c.5873T>A (p.Leu1958Gln)
2g.237340638G>ACA431702161COL6A3c.923C>T
c.7660C>T (p.Leu2554=)
c.281C>T
n.545C>T
c.8278C>T (p.Leu2760=)
c.6454C>T (p.Leu2152=)
c.6457C>T (p.Leu2153=)
n.4720C>T
c.7678C>T (p.Leu2560=)
c.7057C>T (p.Leu2353=)
c.7777C>T (p.Leu2593=)
c.8275C>T (p.Leu2759=)
c.5872C>T (p.Leu1958=)
 gnomAD v4
2g.237340638G>CCA2187584COL6A3c.923C>G
c.7660C>G (p.Leu2554Val)
c.281C>G
n.545C>G
c.8278C>G (p.Leu2760Val)
c.6454C>G (p.Leu2152Val)
c.6457C>G (p.Leu2153Val)
n.4720C>G
c.7678C>G (p.Leu2560Val)
c.7057C>G (p.Leu2353Val)
c.7777C>G (p.Leu2593Val)
c.8275C>G (p.Leu2759Val)
c.5872C>G (p.Leu1958Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340638G=CA1337608770COL6A3c.923C=
c.7660C= (p.Leu2554=)
c.281C=
n.545C=
c.8278C= (p.Leu2760=)
c.6454C= (p.Leu2152=)
c.6457C= (p.Leu2153=)
n.4720C=
c.7678C= (p.Leu2560=)
c.7057C= (p.Leu2353=)
c.7777C= (p.Leu2593=)
c.8275C= (p.Leu2759=)
c.5872C= (p.Leu1958=)
2g.237340638G>TCA351195583COL6A3c.923C>A
c.7660C>A (p.Leu2554Met)
c.281C>A
n.545C>A
c.8278C>A (p.Leu2760Met)
c.6454C>A (p.Leu2152Met)
c.6457C>A (p.Leu2153Met)
n.4720C>A
c.7678C>A (p.Leu2560Met)
c.7057C>A (p.Leu2353Met)
c.7777C>A (p.Leu2593Met)
c.8275C>A (p.Leu2759Met)
c.5872C>A (p.Leu1958Met)
2g.237340639G>ACA431702164COL6A3c.922C>T
c.7659C>T (p.Ile2553=)
c.280C>T
n.544C>T
c.8277C>T (p.Ile2759=)
c.6453C>T (p.Ile2151=)
c.6456C>T (p.Ile2152=)
n.4719C>T
c.7677C>T (p.Ile2559=)
c.7056C>T (p.Ile2352=)
c.7776C>T (p.Ile2592=)
c.8274C>T (p.Ile2758=)
c.5871C>T (p.Ile1957=)
2g.237340639G>CCA351195586COL6A3c.922C>G
c.7659C>G (p.Ile2553Met)
c.280C>G
n.544C>G
c.8277C>G (p.Ile2759Met)
c.6453C>G (p.Ile2151Met)
c.6456C>G (p.Ile2152Met)
n.4719C>G
c.7677C>G (p.Ile2559Met)
c.7056C>G (p.Ile2352Met)
c.7776C>G (p.Ile2592Met)
c.8274C>G (p.Ile2758Met)
c.5871C>G (p.Ile1957Met)
2g.237340639G>TCA431702165COL6A3c.922C>A
c.7659C>A (p.Ile2553=)
c.280C>A
n.544C>A
c.8277C>A (p.Ile2759=)
c.6453C>A (p.Ile2151=)
c.6456C>A (p.Ile2152=)
n.4719C>A
c.7677C>A (p.Ile2559=)
c.7056C>A (p.Ile2352=)
c.7776C>A (p.Ile2592=)
c.8274C>A (p.Ile2758=)
c.5871C>A (p.Ile1957=)
2g.237340640A=CA1337608773COL6A3c.921T=
c.7658T= (p.Ile2553=)
c.279T=
n.543T=
c.8276T= (p.Ile2759=)
c.6452T= (p.Ile2151=)
c.6455T= (p.Ile2152=)
n.4718T=
c.7676T= (p.Ile2559=)
c.7055T= (p.Ile2352=)
c.7775T= (p.Ile2592=)
c.8273T= (p.Ile2758=)
c.5870T= (p.Ile1957=)
2g.237340640A>CCA351195591COL6A3c.921T>G
c.7658T>G (p.Ile2553Ser)
c.279T>G
n.543T>G
c.8276T>G (p.Ile2759Ser)
c.6452T>G (p.Ile2151Ser)
c.6455T>G (p.Ile2152Ser)
n.4718T>G
c.7676T>G (p.Ile2559Ser)
c.7055T>G (p.Ile2352Ser)
c.7775T>G (p.Ile2592Ser)
c.8273T>G (p.Ile2758Ser)
c.5870T>G (p.Ile1957Ser)
 dbSNP
2g.237340640A>GCA351195595COL6A3c.921T>C
c.7658T>C (p.Ile2553Thr)
c.279T>C
n.543T>C
c.8276T>C (p.Ile2759Thr)
c.6452T>C (p.Ile2151Thr)
c.6455T>C (p.Ile2152Thr)
n.4718T>C
c.7676T>C (p.Ile2559Thr)
c.7055T>C (p.Ile2352Thr)
c.7775T>C (p.Ile2592Thr)
c.8273T>C (p.Ile2758Thr)
c.5870T>C (p.Ile1957Thr)
 gnomAD v4
2g.237340640A>TCA351195603COL6A3c.921T>A
c.7658T>A (p.Ile2553Asn)
c.279T>A
n.543T>A
c.8276T>A (p.Ile2759Asn)
c.6452T>A (p.Ile2151Asn)
c.6455T>A (p.Ile2152Asn)
n.4718T>A
c.7676T>A (p.Ile2559Asn)
c.7055T>A (p.Ile2352Asn)
c.7775T>A (p.Ile2592Asn)
c.8273T>A (p.Ile2758Asn)
c.5870T>A (p.Ile1957Asn)
 gnomAD v4
2g.237340640_237340641delinsATCA1337608772COL6A3c.920_921delinsAT
c.7657_7658delinsAT (p.Ile2553=)
c.278_279delinsAT
n.542_543delinsAT
c.8275_8276delinsAT (p.Ile2759=)
c.6451_6452delinsAT (p.Ile2151=)
c.6454_6455delinsAT (p.Ile2152=)
n.4717_4718delinsAT
c.7675_7676delinsAT (p.Ile2559=)
c.7054_7055delinsAT (p.Ile2352=)
c.7774_7775delinsAT (p.Ile2592=)
c.8272_8273delinsAT (p.Ile2758=)
c.5869_5870delinsAT (p.Ile1957=)
2g.237340641delCA540749772COL6A3c.920del
c.7657del (p.Ile2553SerfsTer20)
c.278del
n.542del
c.8275del (p.Ile2759SerfsTer20)
c.6451del (p.Ile2151SerfsTer20)
c.6454del (p.Ile2152SerfsTer20)
n.4717del
c.7675del (p.Ile2559SerfsTer20)
c.7054del (p.Ile2352SerfsTer20)
c.7774del (p.Ile2592SerfsTer20)
c.8272del (p.Ile2758SerfsTer20)
c.5869del (p.Ile1957SerfsTer20)
 dbSNP gnomAD v2 gnomAD v4
2g.237340641T>ACA351195608COL6A3c.920A>T
c.7657A>T (p.Ile2553Phe)
c.278A>T
n.542A>T
c.8275A>T (p.Ile2759Phe)
c.6451A>T (p.Ile2151Phe)
c.6454A>T (p.Ile2152Phe)
n.4717A>T
c.7675A>T (p.Ile2559Phe)
c.7054A>T (p.Ile2352Phe)
c.7774A>T (p.Ile2592Phe)
c.8272A>T (p.Ile2758Phe)
c.5869A>T (p.Ile1957Phe)
2g.237340641T>CCA351195610COL6A3c.920A>G
c.7657A>G (p.Ile2553Val)
c.278A>G
n.542A>G
c.8275A>G (p.Ile2759Val)
c.6451A>G (p.Ile2151Val)
c.6454A>G (p.Ile2152Val)
n.4717A>G
c.7675A>G (p.Ile2559Val)
c.7054A>G (p.Ile2352Val)
c.7774A>G (p.Ile2592Val)
c.8272A>G (p.Ile2758Val)
c.5869A>G (p.Ile1957Val)
 dbSNP gnomAD v2 gnomAD v4
2g.237340641T>GCA351195614COL6A3c.920A>C
c.7657A>C (p.Ile2553Leu)
c.278A>C
n.542A>C
c.8275A>C (p.Ile2759Leu)
c.6451A>C (p.Ile2151Leu)
c.6454A>C (p.Ile2152Leu)
n.4717A>C
c.7675A>C (p.Ile2559Leu)
c.7054A>C (p.Ile2352Leu)
c.7774A>C (p.Ile2592Leu)
c.8272A>C (p.Ile2758Leu)
c.5869A>C (p.Ile1957Leu)
2g.237340641T=CA1337608775COL6A3c.920A=
c.7657A= (p.Ile2553=)
c.278A=
n.542A=
c.8275A= (p.Ile2759=)
c.6451A= (p.Ile2151=)
c.6454A= (p.Ile2152=)
n.4717A=
c.7675A= (p.Ile2559=)
c.7054A= (p.Ile2352=)
c.7774A= (p.Ile2592=)
c.8272A= (p.Ile2758=)
c.5869A= (p.Ile1957=)
2g.237340642G>ACA431702189COL6A3c.919C>T
c.7656C>T (p.Val2552=)
c.277C>T
n.541C>T
c.8274C>T (p.Val2758=)
c.6450C>T (p.Val2150=)
c.6453C>T (p.Val2151=)
n.4716C>T
c.7674C>T (p.Val2558=)
c.7053C>T (p.Val2351=)
c.7773C>T (p.Val2591=)
c.8271C>T (p.Val2757=)
c.5868C>T (p.Val1956=)
2g.237340642G>CCA431702184COL6A3c.919C>G
c.7656C>G (p.Val2552=)
c.277C>G
n.541C>G
c.8274C>G (p.Val2758=)
c.6450C>G (p.Val2150=)
c.6453C>G (p.Val2151=)
n.4716C>G
c.7674C>G (p.Val2558=)
c.7053C>G (p.Val2351=)
c.7773C>G (p.Val2591=)
c.8271C>G (p.Val2757=)
c.5868C>G (p.Val1956=)
2g.237340642G>TCA431702186COL6A3c.919C>A
c.7656C>A (p.Val2552=)
c.277C>A
n.541C>A
c.8274C>A (p.Val2758=)
c.6450C>A (p.Val2150=)
c.6453C>A (p.Val2151=)
n.4716C>A
c.7674C>A (p.Val2558=)
c.7053C>A (p.Val2351=)
c.7773C>A (p.Val2591=)
c.8271C>A (p.Val2757=)
c.5868C>A (p.Val1956=)
2g.237340643A>CCA351195618COL6A3c.918T>G
c.7655T>G (p.Val2552Gly)
c.276T>G
n.540T>G
c.8273T>G (p.Val2758Gly)
c.6449T>G (p.Val2150Gly)
c.6452T>G (p.Val2151Gly)
n.4715T>G
c.7673T>G (p.Val2558Gly)
c.7052T>G (p.Val2351Gly)
c.7772T>G (p.Val2591Gly)
c.8270T>G (p.Val2757Gly)
c.5867T>G (p.Val1956Gly)
2g.237340643A>GCA351195623COL6A3c.918T>C
c.7655T>C (p.Val2552Ala)
c.276T>C
n.540T>C
c.8273T>C (p.Val2758Ala)
c.6449T>C (p.Val2150Ala)
c.6452T>C (p.Val2151Ala)
n.4715T>C
c.7673T>C (p.Val2558Ala)
c.7052T>C (p.Val2351Ala)
c.7772T>C (p.Val2591Ala)
c.8270T>C (p.Val2757Ala)
c.5867T>C (p.Val1956Ala)
2g.237340643A>TCA351195632COL6A3c.918T>A
c.7655T>A (p.Val2552Asp)
c.276T>A
n.540T>A
c.8273T>A (p.Val2758Asp)
c.6449T>A (p.Val2150Asp)
c.6452T>A (p.Val2151Asp)
n.4715T>A
c.7673T>A (p.Val2558Asp)
c.7052T>A (p.Val2351Asp)
c.7772T>A (p.Val2591Asp)
c.8270T>A (p.Val2757Asp)
c.5867T>A (p.Val1956Asp)
2g.237340644C>ACA351195636COL6A3c.917G>T
c.7654G>T (p.Val2552Phe)
c.275G>T
n.539G>T
c.8272G>T (p.Val2758Phe)
c.6448G>T (p.Val2150Phe)
c.6451G>T (p.Val2151Phe)
n.4714G>T
c.7672G>T (p.Val2558Phe)
c.7051G>T (p.Val2351Phe)
c.7771G>T (p.Val2591Phe)
c.8269G>T (p.Val2757Phe)
c.5866G>T (p.Val1956Phe)
2g.237340644C>GCA351195639COL6A3c.917G>C
c.7654G>C (p.Val2552Leu)
c.275G>C
n.539G>C
c.8272G>C (p.Val2758Leu)
c.6448G>C (p.Val2150Leu)
c.6451G>C (p.Val2151Leu)
n.4714G>C
c.7672G>C (p.Val2558Leu)
c.7051G>C (p.Val2351Leu)
c.7771G>C (p.Val2591Leu)
c.8269G>C (p.Val2757Leu)
c.5866G>C (p.Val1956Leu)
2g.237340644C>TCA351195635COL6A3c.917G>A
c.7654G>A (p.Val2552Ile)
c.275G>A
n.539G>A
c.8272G>A (p.Val2758Ile)
c.6448G>A (p.Val2150Ile)
c.6451G>A (p.Val2151Ile)
n.4714G>A
c.7672G>A (p.Val2558Ile)
c.7051G>A (p.Val2351Ile)
c.7771G>A (p.Val2591Ile)
c.8269G>A (p.Val2757Ile)
c.5866G>A (p.Val1956Ile)
 gnomAD v4
2g.237340645T>ACA351195644COL6A3c.916A>T
c.7653A>T (p.Arg2551Ser)
c.274A>T
n.538A>T
c.8271A>T (p.Arg2757Ser)
c.6447A>T (p.Arg2149Ser)
c.6450A>T (p.Arg2150Ser)
n.4713A>T
c.7671A>T (p.Arg2557Ser)
c.7050A>T (p.Arg2350Ser)
c.7770A>T (p.Arg2590Ser)
c.8268A>T (p.Arg2756Ser)
c.5865A>T (p.Arg1955Ser)
2g.237340645T>CCA431702214COL6A3c.916A>G
c.7653A>G (p.Arg2551=)
c.274A>G
n.538A>G
c.8271A>G (p.Arg2757=)
c.6447A>G (p.Arg2149=)
c.6450A>G (p.Arg2150=)
n.4713A>G
c.7671A>G (p.Arg2557=)
c.7050A>G (p.Arg2350=)
c.7770A>G (p.Arg2590=)
c.8268A>G (p.Arg2756=)
c.5865A>G (p.Arg1955=)
2g.237340645T>GCA351195648COL6A3c.916A>C
c.7653A>C (p.Arg2551Ser)
c.274A>C
n.538A>C
c.8271A>C (p.Arg2757Ser)
c.6447A>C (p.Arg2149Ser)
c.6450A>C (p.Arg2150Ser)
n.4713A>C
c.7671A>C (p.Arg2557Ser)
c.7050A>C (p.Arg2350Ser)
c.7770A>C (p.Arg2590Ser)
c.8268A>C (p.Arg2756Ser)
c.5865A>C (p.Arg1955Ser)
2g.237340646C>ACA351195650COL6A3c.915G>T
c.7652G>T (p.Arg2551Ile)
c.273G>T
n.537G>T
c.8270G>T (p.Arg2757Ile)
c.6446G>T (p.Arg2149Ile)
c.6449G>T (p.Arg2150Ile)
n.4712G>T
c.7670G>T (p.Arg2557Ile)
c.7049G>T (p.Arg2350Ile)
c.7769G>T (p.Arg2590Ile)
c.8267G>T (p.Arg2756Ile)
c.5864G>T (p.Arg1955Ile)
2g.237340646C=CA1337608778COL6A3c.915G=
c.7652G= (p.Arg2551=)
c.273G=
n.537G=
c.8270G= (p.Arg2757=)
c.6446G= (p.Arg2149=)
c.6449G= (p.Arg2150=)
n.4712G=
c.7670G= (p.Arg2557=)
c.7049G= (p.Arg2350=)
c.7769G= (p.Arg2590=)
c.8267G= (p.Arg2756=)
c.5864G= (p.Arg1955=)
2g.237340646C>GCA2187585COL6A3c.915G>C
c.7652G>C (p.Arg2551Thr)
c.273G>C
n.537G>C
c.8270G>C (p.Arg2757Thr)
c.6446G>C (p.Arg2149Thr)
c.6449G>C (p.Arg2150Thr)
n.4712G>C
c.7670G>C (p.Arg2557Thr)
c.7049G>C (p.Arg2350Thr)
c.7769G>C (p.Arg2590Thr)
c.8267G>C (p.Arg2756Thr)
c.5864G>C (p.Arg1955Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340646C>TCA351195667COL6A3c.915G>A
c.7652G>A (p.Arg2551Lys)
c.273G>A
n.537G>A
c.8270G>A (p.Arg2757Lys)
c.6446G>A (p.Arg2149Lys)
c.6449G>A (p.Arg2150Lys)
n.4712G>A
c.7670G>A (p.Arg2557Lys)
c.7049G>A (p.Arg2350Lys)
c.7769G>A (p.Arg2590Lys)
c.8267G>A (p.Arg2756Lys)
c.5864G>A (p.Arg1955Lys)
 gnomAD v4
2g.237340647T>ACA351195676COL6A3c.914A>T
c.7651A>T (p.Arg2551Ter)
c.272A>T
n.536A>T
c.8269A>T (p.Arg2757Ter)
c.6445A>T (p.Arg2149Ter)
c.6448A>T (p.Arg2150Ter)
n.4711A>T
c.7669A>T (p.Arg2557Ter)
c.7048A>T (p.Arg2350Ter)
c.7768A>T (p.Arg2590Ter)
c.8266A>T (p.Arg2756Ter)
c.5863A>T (p.Arg1955Ter)
2g.237340647T>CCA351195679COL6A3c.914A>G
c.7651A>G (p.Arg2551Gly)
c.272A>G
n.536A>G
c.8269A>G (p.Arg2757Gly)
c.6445A>G (p.Arg2149Gly)
c.6448A>G (p.Arg2150Gly)
n.4711A>G
c.7669A>G (p.Arg2557Gly)
c.7048A>G (p.Arg2350Gly)
c.7768A>G (p.Arg2590Gly)
c.8266A>G (p.Arg2756Gly)
c.5863A>G (p.Arg1955Gly)
2g.237340647T>GCA431702226COL6A3c.914A>C
c.7651A>C (p.Arg2551=)
c.272A>C
n.536A>C
c.8269A>C (p.Arg2757=)
c.6445A>C (p.Arg2149=)
c.6448A>C (p.Arg2150=)
n.4711A>C
c.7669A>C (p.Arg2557=)
c.7048A>C (p.Arg2350=)
c.7768A>C (p.Arg2590=)
c.8266A>C (p.Arg2756=)
c.5863A>C (p.Arg1955=)
2g.237340648C>ACA67835621COL6A3c.913G>T
c.7650G>T (p.Gln2550His)
c.271G>T
n.535G>T
c.8268G>T (p.Gln2756His)
c.6444G>T (p.Gln2148His)
c.6447G>T (p.Gln2149His)
n.4710G>T
c.7668G>T (p.Gln2556His)
c.7047G>T (p.Gln2349His)
c.7767G>T (p.Gln2589His)
c.8265G>T (p.Gln2755His)
c.5862G>T (p.Gln1954His)
 dbSNP gnomAD v4
2g.237340648C=CA1337608781COL6A3c.913G=
c.7650G= (p.Gln2550=)
c.271G=
n.535G=
c.8268G= (p.Gln2756=)
c.6444G= (p.Gln2148=)
c.6447G= (p.Gln2149=)
n.4710G=
c.7668G= (p.Gln2556=)
c.7047G= (p.Gln2349=)
c.7767G= (p.Gln2589=)
c.8265G= (p.Gln2755=)
c.5862G= (p.Gln1954=)
2g.237340648C>GCA351195688COL6A3c.913G>C
c.7650G>C (p.Gln2550His)
c.271G>C
n.535G>C
c.8268G>C (p.Gln2756His)
c.6444G>C (p.Gln2148His)
c.6447G>C (p.Gln2149His)
n.4710G>C
c.7668G>C (p.Gln2556His)
c.7047G>C (p.Gln2349His)
c.7767G>C (p.Gln2589His)
c.8265G>C (p.Gln2755His)
c.5862G>C (p.Gln1954His)
2g.237340648C>TCA431702233COL6A3c.913G>A
c.7650G>A (p.Gln2550=)
c.271G>A
n.535G>A
c.8268G>A (p.Gln2756=)
c.6444G>A (p.Gln2148=)
c.6447G>A (p.Gln2149=)
n.4710G>A
c.7668G>A (p.Gln2556=)
c.7047G>A (p.Gln2349=)
c.7767G>A (p.Gln2589=)
c.8265G>A (p.Gln2755=)
c.5862G>A (p.Gln1954=)
2g.237340649T>ACA351195690COL6A3c.912A>T
c.7649A>T (p.Gln2550Leu)
c.270A>T
n.534A>T
c.8267A>T (p.Gln2756Leu)
c.6443A>T (p.Gln2148Leu)
c.6446A>T (p.Gln2149Leu)
n.4709A>T
c.7667A>T (p.Gln2556Leu)
c.7046A>T (p.Gln2349Leu)
c.7766A>T (p.Gln2589Leu)
c.8264A>T (p.Gln2755Leu)
c.5861A>T (p.Gln1954Leu)
2g.237340649T>CCA351195695COL6A3c.912A>G
c.7649A>G (p.Gln2550Arg)
c.270A>G
n.534A>G
c.8267A>G (p.Gln2756Arg)
c.6443A>G (p.Gln2148Arg)
c.6446A>G (p.Gln2149Arg)
n.4709A>G
c.7667A>G (p.Gln2556Arg)
c.7046A>G (p.Gln2349Arg)
c.7766A>G (p.Gln2589Arg)
c.8264A>G (p.Gln2755Arg)
c.5861A>G (p.Gln1954Arg)
2g.237340649T>GCA351195696COL6A3c.912A>C
c.7649A>C (p.Gln2550Pro)
c.270A>C
n.534A>C
c.8267A>C (p.Gln2756Pro)
c.6443A>C (p.Gln2148Pro)
c.6446A>C (p.Gln2149Pro)
n.4709A>C
c.7667A>C (p.Gln2556Pro)
c.7046A>C (p.Gln2349Pro)
c.7766A>C (p.Gln2589Pro)
c.8264A>C (p.Gln2755Pro)
c.5861A>C (p.Gln1954Pro)
 ClinVar dbSNP
2g.237340649T=CA1337608782COL6A3c.912A=
c.7649A= (p.Gln2550=)
c.270A=
n.534A=
c.8267A= (p.Gln2756=)
c.6443A= (p.Gln2148=)
c.6446A= (p.Gln2149=)
n.4709A=
c.7667A= (p.Gln2556=)
c.7046A= (p.Gln2349=)
c.7766A= (p.Gln2589=)
c.8264A= (p.Gln2755=)
c.5861A= (p.Gln1954=)
2g.237340650G>ACA351195698COL6A3c.911C>T
c.7648C>T (p.Gln2550Ter)
c.269C>T
n.533C>T
c.8266C>T (p.Gln2756Ter)
c.6442C>T (p.Gln2148Ter)
c.6445C>T (p.Gln2149Ter)
n.4708C>T
c.7666C>T (p.Gln2556Ter)
c.7045C>T (p.Gln2349Ter)
c.7765C>T (p.Gln2589Ter)
c.8263C>T (p.Gln2755Ter)
c.5860C>T (p.Gln1954Ter)
2g.237340650G>CCA351195701COL6A3c.911C>G
c.7648C>G (p.Gln2550Glu)
c.269C>G
n.533C>G
c.8266C>G (p.Gln2756Glu)
c.6442C>G (p.Gln2148Glu)
c.6445C>G (p.Gln2149Glu)
n.4708C>G
c.7666C>G (p.Gln2556Glu)
c.7045C>G (p.Gln2349Glu)
c.7765C>G (p.Gln2589Glu)
c.8263C>G (p.Gln2755Glu)
c.5860C>G (p.Gln1954Glu)
2g.237340650G>TCA351195697COL6A3c.911C>A
c.7648C>A (p.Gln2550Lys)
c.269C>A
n.533C>A
c.8266C>A (p.Gln2756Lys)
c.6442C>A (p.Gln2148Lys)
c.6445C>A (p.Gln2149Lys)
n.4708C>A
c.7666C>A (p.Gln2556Lys)
c.7045C>A (p.Gln2349Lys)
c.7765C>A (p.Gln2589Lys)
c.8263C>A (p.Gln2755Lys)
c.5860C>A (p.Gln1954Lys)
2g.237340651G>ACA431702247COL6A3c.910C>T
c.7647C>T (p.Ala2549=)
c.268C>T
n.532C>T
c.8265C>T (p.Ala2755=)
c.6441C>T (p.Ala2147=)
c.6444C>T (p.Ala2148=)
n.4707C>T
c.7665C>T (p.Ala2555=)
c.7044C>T (p.Ala2348=)
c.7764C>T (p.Ala2588=)
c.8262C>T (p.Ala2754=)
c.5859C>T (p.Ala1953=)
 dbSNP
2g.237340651G>CCA431702249COL6A3c.910C>G
c.7647C>G (p.Ala2549=)
c.268C>G
n.532C>G
c.8265C>G (p.Ala2755=)
c.6441C>G (p.Ala2147=)
c.6444C>G (p.Ala2148=)
n.4707C>G
c.7665C>G (p.Ala2555=)
c.7044C>G (p.Ala2348=)
c.7764C>G (p.Ala2588=)
c.8262C>G (p.Ala2754=)
c.5859C>G (p.Ala1953=)
2g.237340651G=CA1337608787COL6A3c.910C=
c.7647C= (p.Ala2549=)
c.268C=
n.532C=
c.8265C= (p.Ala2755=)
c.6441C= (p.Ala2147=)
c.6444C= (p.Ala2148=)
n.4707C=
c.7665C= (p.Ala2555=)
c.7044C= (p.Ala2348=)
c.7764C= (p.Ala2588=)
c.8262C= (p.Ala2754=)
c.5859C= (p.Ala1953=)
2g.237340651G>TCA431702252COL6A3c.910C>A
c.7647C>A (p.Ala2549=)
c.268C>A
n.532C>A
c.8265C>A (p.Ala2755=)
c.6441C>A (p.Ala2147=)
c.6444C>A (p.Ala2148=)
n.4707C>A
c.7665C>A (p.Ala2555=)
c.7044C>A (p.Ala2348=)
c.7764C>A (p.Ala2588=)
c.8262C>A (p.Ala2754=)
c.5859C>A (p.Ala1953=)
2g.237340652G>ACA351195704COL6A3c.909C>T
c.7646C>T (p.Ala2549Val)
c.267C>T
n.531C>T
c.8264C>T (p.Ala2755Val)
c.6440C>T (p.Ala2147Val)
c.6443C>T (p.Ala2148Val)
n.4706C>T
c.7664C>T (p.Ala2555Val)
c.7043C>T (p.Ala2348Val)
c.7763C>T (p.Ala2588Val)
c.8261C>T (p.Ala2754Val)
c.5858C>T (p.Ala1953Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237340652G>CCA2187586COL6A3c.909C>G
c.7646C>G (p.Ala2549Gly)
c.267C>G
n.531C>G
c.8264C>G (p.Ala2755Gly)
c.6440C>G (p.Ala2147Gly)
c.6443C>G (p.Ala2148Gly)
n.4706C>G
c.7664C>G (p.Ala2555Gly)
c.7043C>G (p.Ala2348Gly)
c.7763C>G (p.Ala2588Gly)
c.8261C>G (p.Ala2754Gly)
c.5858C>G (p.Ala1953Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237340652G=CA1337608789COL6A3c.909C=
c.7646C= (p.Ala2549=)
c.267C=
n.531C=
c.8264C= (p.Ala2755=)
c.6440C= (p.Ala2147=)
c.6443C= (p.Ala2148=)
n.4706C=
c.7664C= (p.Ala2555=)
c.7043C= (p.Ala2348=)
c.7763C= (p.Ala2588=)
c.8261C= (p.Ala2754=)
c.5858C= (p.Ala1953=)
2g.237340652G>TCA351195705COL6A3c.909C>A
c.7646C>A (p.Ala2549Asp)
c.267C>A
n.531C>A
c.8264C>A (p.Ala2755Asp)
c.6440C>A (p.Ala2147Asp)
c.6443C>A (p.Ala2148Asp)
n.4706C>A
c.7664C>A (p.Ala2555Asp)
c.7043C>A (p.Ala2348Asp)
c.7763C>A (p.Ala2588Asp)
c.8261C>A (p.Ala2754Asp)
c.5858C>A (p.Ala1953Asp)
2g.237340653C>ACA351195707COL6A3c.908G>T
c.7645G>T (p.Ala2549Ser)
c.266G>T
n.530G>T
c.8263G>T (p.Ala2755Ser)
c.6439G>T (p.Ala2147Ser)
c.6442G>T (p.Ala2148Ser)
n.4705G>T
c.7663G>T (p.Ala2555Ser)
c.7042G>T (p.Ala2348Ser)
c.7762G>T (p.Ala2588Ser)
c.8260G>T (p.Ala2754Ser)
c.5857G>T (p.Ala1953Ser)
2g.237340653C=CA1337608791COL6A3c.908G=
c.7645G= (p.Ala2549=)
c.266G=
n.530G=
c.8263G= (p.Ala2755=)
c.6439G= (p.Ala2147=)
c.6442G= (p.Ala2148=)
n.4705G=
c.7663G= (p.Ala2555=)
c.7042G= (p.Ala2348=)
c.7762G= (p.Ala2588=)
c.8260G= (p.Ala2754=)
c.5857G= (p.Ala1953=)
2g.237340653C>GCA351195710COL6A3c.908G>C
c.7645G>C (p.Ala2549Pro)
c.266G>C
n.530G>C
c.8263G>C (p.Ala2755Pro)
c.6439G>C (p.Ala2147Pro)
c.6442G>C (p.Ala2148Pro)
n.4705G>C
c.7663G>C (p.Ala2555Pro)
c.7042G>C (p.Ala2348Pro)
c.7762G>C (p.Ala2588Pro)
c.8260G>C (p.Ala2754Pro)
c.5857G>C (p.Ala1953Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.237340653C>TCA2187587COL6A3c.908G>A
c.7645G>A (p.Ala2549Thr)
c.266G>A
n.530G>A
c.8263G>A (p.Ala2755Thr)
c.6439G>A (p.Ala2147Thr)
c.6442G>A (p.Ala2148Thr)
n.4705G>A
c.7663G>A (p.Ala2555Thr)
c.7042G>A (p.Ala2348Thr)
c.7762G>A (p.Ala2588Thr)
c.8260G>A (p.Ala2754Thr)
c.5857G>A (p.Ala1953Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340654C>ACA351195716COL6A3c.907G>T
c.7644G>T (p.Glu2548Asp)
c.265G>T
n.529G>T
c.8262G>T (p.Glu2754Asp)
c.6438G>T (p.Glu2146Asp)
c.6441G>T (p.Glu2147Asp)
n.4704G>T
c.7662G>T (p.Glu2554Asp)
c.7041G>T (p.Glu2347Asp)
c.7761G>T (p.Glu2587Asp)
c.8259G>T (p.Glu2753Asp)
c.5856G>T (p.Glu1952Asp)
2g.237340654C>GCA351195718COL6A3c.907G>C
c.7644G>C (p.Glu2548Asp)
c.265G>C
n.529G>C
c.8262G>C (p.Glu2754Asp)
c.6438G>C (p.Glu2146Asp)
c.6441G>C (p.Glu2147Asp)
n.4704G>C
c.7662G>C (p.Glu2554Asp)
c.7041G>C (p.Glu2347Asp)
c.7761G>C (p.Glu2587Asp)
c.8259G>C (p.Glu2753Asp)
c.5856G>C (p.Glu1952Asp)
2g.237340654C>TCA431702266COL6A3c.907G>A
c.7644G>A (p.Glu2548=)
c.265G>A
n.529G>A
c.8262G>A (p.Glu2754=)
c.6438G>A (p.Glu2146=)
c.6441G>A (p.Glu2147=)
n.4704G>A
c.7662G>A (p.Glu2554=)
c.7041G>A (p.Glu2347=)
c.7761G>A (p.Glu2587=)
c.8259G>A (p.Glu2753=)
c.5856G>A (p.Glu1952=)
2g.237340655T>ACA351195722COL6A3c.906A>T
c.7643A>T (p.Glu2548Val)
c.264A>T
n.528A>T
c.8261A>T (p.Glu2754Val)
c.6437A>T (p.Glu2146Val)
c.6440A>T (p.Glu2147Val)
n.4703A>T
c.7661A>T (p.Glu2554Val)
c.7040A>T (p.Glu2347Val)
c.7760A>T (p.Glu2587Val)
c.8258A>T (p.Glu2753Val)
c.5855A>T (p.Glu1952Val)
2g.237340655T>CCA351195723COL6A3c.906A>G
c.7643A>G (p.Glu2548Gly)
c.264A>G
n.528A>G
c.8261A>G (p.Glu2754Gly)
c.6437A>G (p.Glu2146Gly)
c.6440A>G (p.Glu2147Gly)
n.4703A>G
c.7661A>G (p.Glu2554Gly)
c.7040A>G (p.Glu2347Gly)
c.7760A>G (p.Glu2587Gly)
c.8258A>G (p.Glu2753Gly)
c.5855A>G (p.Glu1952Gly)
2g.237340655T>GCA351195726COL6A3c.906A>C
c.7643A>C (p.Glu2548Ala)
c.264A>C
n.528A>C
c.8261A>C (p.Glu2754Ala)
c.6437A>C (p.Glu2146Ala)
c.6440A>C (p.Glu2147Ala)
n.4703A>C
c.7661A>C (p.Glu2554Ala)
c.7040A>C (p.Glu2347Ala)
c.7760A>C (p.Glu2587Ala)
c.8258A>C (p.Glu2753Ala)
c.5855A>C (p.Glu1952Ala)
2g.237340656C>ACA351195731COL6A3c.905G>T
c.7642G>T (p.Glu2548Ter)
c.263G>T
n.527G>T
c.8260G>T (p.Glu2754Ter)
c.6436G>T (p.Glu2146Ter)
c.6439G>T (p.Glu2147Ter)
n.4702G>T
c.7660G>T (p.Glu2554Ter)
c.7039G>T (p.Glu2347Ter)
c.7759G>T (p.Glu2587Ter)
c.8257G>T (p.Glu2753Ter)
c.5854G>T (p.Glu1952Ter)
2g.237340656C>GCA351195733COL6A3c.905G>C
c.7642G>C (p.Glu2548Gln)
c.263G>C
n.527G>C
c.8260G>C (p.Glu2754Gln)
c.6436G>C (p.Glu2146Gln)
c.6439G>C (p.Glu2147Gln)
n.4702G>C
c.7660G>C (p.Glu2554Gln)
c.7039G>C (p.Glu2347Gln)
c.7759G>C (p.Glu2587Gln)
c.8257G>C (p.Glu2753Gln)
c.5854G>C (p.Glu1952Gln)
2g.237340656C>TCA351195736COL6A3c.905G>A
c.7642G>A (p.Glu2548Lys)
c.263G>A
n.527G>A
c.8260G>A (p.Glu2754Lys)
c.6436G>A (p.Glu2146Lys)
c.6439G>A (p.Glu2147Lys)
n.4702G>A
c.7660G>A (p.Glu2554Lys)
c.7039G>A (p.Glu2347Lys)
c.7759G>A (p.Glu2587Lys)
c.8257G>A (p.Glu2753Lys)
c.5854G>A (p.Glu1952Lys)
2g.237340657C>ACA351195739COL6A3c.904G>T
c.7641G>T (p.Glu2547Asp)
c.262G>T
n.526G>T
c.8259G>T (p.Glu2753Asp)
c.6435G>T (p.Glu2145Asp)
c.6438G>T (p.Glu2146Asp)
n.4701G>T
c.7659G>T (p.Glu2553Asp)
c.7038G>T (p.Glu2346Asp)
c.7758G>T (p.Glu2586Asp)
c.8256G>T (p.Glu2752Asp)
c.5853G>T (p.Glu1951Asp)
2g.237340657C>GCA351195740COL6A3c.904G>C
c.7641G>C (p.Glu2547Asp)
c.262G>C
n.526G>C
c.8259G>C (p.Glu2753Asp)
c.6435G>C (p.Glu2145Asp)
c.6438G>C (p.Glu2146Asp)
n.4701G>C
c.7659G>C (p.Glu2553Asp)
c.7038G>C (p.Glu2346Asp)
c.7758G>C (p.Glu2586Asp)
c.8256G>C (p.Glu2752Asp)
c.5853G>C (p.Glu1951Asp)
2g.237340657C>TCA431702285COL6A3c.904G>A
c.7641G>A (p.Glu2547=)
c.262G>A
n.526G>A
c.8259G>A (p.Glu2753=)
c.6435G>A (p.Glu2145=)
c.6438G>A (p.Glu2146=)
n.4701G>A
c.7659G>A (p.Glu2553=)
c.7038G>A (p.Glu2346=)
c.7758G>A (p.Glu2586=)
c.8256G>A (p.Glu2752=)
c.5853G>A (p.Glu1951=)
 gnomAD v4
2g.237340658T>ACA351195741COL6A3c.903A>T
c.7640A>T (p.Glu2547Val)
c.261A>T
n.525A>T
c.8258A>T (p.Glu2753Val)
c.6434A>T (p.Glu2145Val)
c.6437A>T (p.Glu2146Val)
n.4700A>T
c.7658A>T (p.Glu2553Val)
c.7037A>T (p.Glu2346Val)
c.7757A>T (p.Glu2586Val)
c.8255A>T (p.Glu2752Val)
c.5852A>T (p.Glu1951Val)
2g.237340658T>CCA351195743COL6A3c.903A>G
c.7640A>G (p.Glu2547Gly)
c.261A>G
n.525A>G
c.8258A>G (p.Glu2753Gly)
c.6434A>G (p.Glu2145Gly)
c.6437A>G (p.Glu2146Gly)
n.4700A>G
c.7658A>G (p.Glu2553Gly)
c.7037A>G (p.Glu2346Gly)
c.7757A>G (p.Glu2586Gly)
c.8255A>G (p.Glu2752Gly)
c.5852A>G (p.Glu1951Gly)
2g.237340658T>GCA351195747COL6A3c.903A>C
c.7640A>C (p.Glu2547Ala)
c.261A>C
n.525A>C
c.8258A>C (p.Glu2753Ala)
c.6434A>C (p.Glu2145Ala)
c.6437A>C (p.Glu2146Ala)
n.4700A>C
c.7658A>C (p.Glu2553Ala)
c.7037A>C (p.Glu2346Ala)
c.7757A>C (p.Glu2586Ala)
c.8255A>C (p.Glu2752Ala)
c.5852A>C (p.Glu1951Ala)
2g.237340659C>ACA351195754COL6A3c.902G>T
c.7639G>T (p.Glu2547Ter)
c.260G>T
n.524G>T
c.8257G>T (p.Glu2753Ter)
c.6433G>T (p.Glu2145Ter)
c.6436G>T (p.Glu2146Ter)
n.4699G>T
c.7657G>T (p.Glu2553Ter)
c.7036G>T (p.Glu2346Ter)
c.7756G>T (p.Glu2586Ter)
c.8254G>T (p.Glu2752Ter)
c.5851G>T (p.Glu1951Ter)
2g.237340659C=CA1337608796COL6A3c.902G=
c.7639G= (p.Glu2547=)
c.260G=
n.524G=
c.8257G= (p.Glu2753=)
c.6433G= (p.Glu2145=)
c.6436G= (p.Glu2146=)
n.4699G=
c.7657G= (p.Glu2553=)
c.7036G= (p.Glu2346=)
c.7756G= (p.Glu2586=)
c.8254G= (p.Glu2752=)
c.5851G= (p.Glu1951=)
2g.237340659C>GCA2187588COL6A3c.902G>C
c.7639G>C (p.Glu2547Gln)
c.260G>C
n.524G>C
c.8257G>C (p.Glu2753Gln)
c.6433G>C (p.Glu2145Gln)
c.6436G>C (p.Glu2146Gln)
n.4699G>C
c.7657G>C (p.Glu2553Gln)
c.7036G>C (p.Glu2346Gln)
c.7756G>C (p.Glu2586Gln)
c.8254G>C (p.Glu2752Gln)
c.5851G>C (p.Glu1951Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340659C>TCA351195762COL6A3c.902G>A
c.7639G>A (p.Glu2547Lys)
c.260G>A
n.524G>A
c.8257G>A (p.Glu2753Lys)
c.6433G>A (p.Glu2145Lys)
c.6436G>A (p.Glu2146Lys)
n.4699G>A
c.7657G>A (p.Glu2553Lys)
c.7036G>A (p.Glu2346Lys)
c.7756G>A (p.Glu2586Lys)
c.8254G>A (p.Glu2752Lys)
c.5851G>A (p.Glu1951Lys)
 ClinVar dbSNP
2g.237340660C>ACA431702300COL6A3c.901G>T
c.7638G>T (p.Leu2546=)
c.259G>T
n.523G>T
c.8256G>T (p.Leu2752=)
c.6432G>T (p.Leu2144=)
c.6435G>T (p.Leu2145=)
n.4698G>T
c.7656G>T (p.Leu2552=)
c.7035G>T (p.Leu2345=)
c.7755G>T (p.Leu2585=)
c.8253G>T (p.Leu2751=)
c.5850G>T (p.Leu1950=)
2g.237340660C=CA1337608799COL6A3c.901G=
c.7638G= (p.Leu2546=)
c.259G=
n.523G=
c.8256G= (p.Leu2752=)
c.6432G= (p.Leu2144=)
c.6435G= (p.Leu2145=)
n.4698G=
c.7656G= (p.Leu2552=)
c.7035G= (p.Leu2345=)
c.7755G= (p.Leu2585=)
c.8253G= (p.Leu2751=)
c.5850G= (p.Leu1950=)
2g.237340660C>GCA431702302COL6A3c.901G>C
c.7638G>C (p.Leu2546=)
c.259G>C
n.523G>C
c.8256G>C (p.Leu2752=)
c.6432G>C (p.Leu2144=)
c.6435G>C (p.Leu2145=)
n.4698G>C
c.7656G>C (p.Leu2552=)
c.7035G>C (p.Leu2345=)
c.7755G>C (p.Leu2585=)
c.8253G>C (p.Leu2751=)
c.5850G>C (p.Leu1950=)
2g.237340660C>TCA2187589COL6A3c.901G>A
c.7638G>A (p.Leu2546=)
c.259G>A
n.523G>A
c.8256G>A (p.Leu2752=)
c.6432G>A (p.Leu2144=)
c.6435G>A (p.Leu2145=)
n.4698G>A
c.7656G>A (p.Leu2552=)
c.7035G>A (p.Leu2345=)
c.7755G>A (p.Leu2585=)
c.8253G>A (p.Leu2751=)
c.5850G>A (p.Leu1950=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340661A=CA1337608805COL6A3c.900T=
c.7637T= (p.Leu2546=)
c.258T=
n.522T=
c.8255T= (p.Leu2752=)
c.6431T= (p.Leu2144=)
c.6434T= (p.Leu2145=)
n.4697T=
c.7655T= (p.Leu2552=)
c.7034T= (p.Leu2345=)
c.7754T= (p.Leu2585=)
c.8252T= (p.Leu2751=)
c.5849T= (p.Leu1950=)
2g.237340661A>CCA351195769COL6A3c.900T>G
c.7637T>G (p.Leu2546Arg)
c.258T>G
n.522T>G
c.8255T>G (p.Leu2752Arg)
c.6431T>G (p.Leu2144Arg)
c.6434T>G (p.Leu2145Arg)
n.4697T>G
c.7655T>G (p.Leu2552Arg)
c.7034T>G (p.Leu2345Arg)
c.7754T>G (p.Leu2585Arg)
c.8252T>G (p.Leu2751Arg)
c.5849T>G (p.Leu1950Arg)
 gnomAD v4
2g.237340661A>GCA2187590COL6A3c.900T>C
c.7637T>C (p.Leu2546Pro)
c.258T>C
n.522T>C
c.8255T>C (p.Leu2752Pro)
c.6431T>C (p.Leu2144Pro)
c.6434T>C (p.Leu2145Pro)
n.4697T>C
c.7655T>C (p.Leu2552Pro)
c.7034T>C (p.Leu2345Pro)
c.7754T>C (p.Leu2585Pro)
c.8252T>C (p.Leu2751Pro)
c.5849T>C (p.Leu1950Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237340661A>TCA351195772COL6A3c.900T>A
c.7637T>A (p.Leu2546Gln)
c.258T>A
n.522T>A
c.8255T>A (p.Leu2752Gln)
c.6431T>A (p.Leu2144Gln)
c.6434T>A (p.Leu2145Gln)
n.4697T>A
c.7655T>A (p.Leu2552Gln)
c.7034T>A (p.Leu2345Gln)
c.7754T>A (p.Leu2585Gln)
c.8252T>A (p.Leu2751Gln)
c.5849T>A (p.Leu1950Gln)
2g.237340662G>ACA431702311COL6A3c.899C>T
c.7636C>T (p.Leu2546=)
c.257C>T
n.521C>T
c.8254C>T (p.Leu2752=)
c.6430C>T (p.Leu2144=)
c.6433C>T (p.Leu2145=)
n.4696C>T
c.7654C>T (p.Leu2552=)
c.7033C>T (p.Leu2345=)
c.7753C>T (p.Leu2585=)
c.8251C>T (p.Leu2751=)
c.5848C>T (p.Leu1950=)
 gnomAD v4
2g.237340662G>CCA351195773COL6A3c.899C>G
c.7636C>G (p.Leu2546Val)
c.257C>G
n.521C>G
c.8254C>G (p.Leu2752Val)
c.6430C>G (p.Leu2144Val)
c.6433C>G (p.Leu2145Val)
n.4696C>G
c.7654C>G (p.Leu2552Val)
c.7033C>G (p.Leu2345Val)
c.7753C>G (p.Leu2585Val)
c.8251C>G (p.Leu2751Val)
c.5848C>G (p.Leu1950Val)
2g.237340662G=CA1337608808COL6A3c.899C=
c.7636C= (p.Leu2546=)
c.257C=
n.521C=
c.8254C= (p.Leu2752=)
c.6430C= (p.Leu2144=)
c.6433C= (p.Leu2145=)
n.4696C=
c.7654C= (p.Leu2552=)
c.7033C= (p.Leu2345=)
c.7753C= (p.Leu2585=)
c.8251C= (p.Leu2751=)
c.5848C= (p.Leu1950=)
2g.237340662G>TCA351195774COL6A3c.899C>A
c.7636C>A (p.Leu2546Met)
c.257C>A
n.521C>A
c.8254C>A (p.Leu2752Met)
c.6430C>A (p.Leu2144Met)
c.6433C>A (p.Leu2145Met)
n.4696C>A
c.7654C>A (p.Leu2552Met)
c.7033C>A (p.Leu2345Met)
c.7753C>A (p.Leu2585Met)
c.8251C>A (p.Leu2751Met)
c.5848C>A (p.Leu1950Met)
 dbSNP gnomAD v3 gnomAD v4
2g.237340663C>ACA351195776COL6A3c.898G>T
c.7635G>T (p.Gln2545His)
c.256G>T
n.520G>T
c.8253G>T (p.Gln2751His)
c.6429G>T (p.Gln2143His)
c.6432G>T (p.Gln2144His)
n.4695G>T
c.7653G>T (p.Gln2551His)
c.7032G>T (p.Gln2344His)
c.7752G>T (p.Gln2584His)
c.8250G>T (p.Gln2750His)
c.5847G>T (p.Gln1949His)
2g.237340663C>GCA351195778COL6A3c.898G>C
c.7635G>C (p.Gln2545His)
c.256G>C
n.520G>C
c.8253G>C (p.Gln2751His)
c.6429G>C (p.Gln2143His)
c.6432G>C (p.Gln2144His)
n.4695G>C
c.7653G>C (p.Gln2551His)
c.7032G>C (p.Gln2344His)
c.7752G>C (p.Gln2584His)
c.8250G>C (p.Gln2750His)
c.5847G>C (p.Gln1949His)
2g.237340663C>TCA431702318COL6A3c.898G>A
c.7635G>A (p.Gln2545=)
c.256G>A
n.520G>A
c.8253G>A (p.Gln2751=)
c.6429G>A (p.Gln2143=)
c.6432G>A (p.Gln2144=)
n.4695G>A
c.7653G>A (p.Gln2551=)
c.7032G>A (p.Gln2344=)
c.7752G>A (p.Gln2584=)
c.8250G>A (p.Gln2750=)
c.5847G>A (p.Gln1949=)
2g.237340664T>ACA351195785COL6A3c.897A>T
c.7634A>T (p.Gln2545Leu)
c.255A>T
n.519A>T
c.8252A>T (p.Gln2751Leu)
c.6428A>T (p.Gln2143Leu)
c.6431A>T (p.Gln2144Leu)
n.4694A>T
c.7652A>T (p.Gln2551Leu)
c.7031A>T (p.Gln2344Leu)
c.7751A>T (p.Gln2584Leu)
c.8249A>T (p.Gln2750Leu)
c.5846A>T (p.Gln1949Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237340664T>CCA351195780COL6A3c.897A>G
c.7634A>G (p.Gln2545Arg)
c.255A>G
n.519A>G
c.8252A>G (p.Gln2751Arg)
c.6428A>G (p.Gln2143Arg)
c.6431A>G (p.Gln2144Arg)
n.4694A>G
c.7652A>G (p.Gln2551Arg)
c.7031A>G (p.Gln2344Arg)
c.7751A>G (p.Gln2584Arg)
c.8249A>G (p.Gln2750Arg)
c.5846A>G (p.Gln1949Arg)
2g.237340664T>GCA351195783COL6A3c.897A>C
c.7634A>C (p.Gln2545Pro)
c.255A>C
n.519A>C
c.8252A>C (p.Gln2751Pro)
c.6428A>C (p.Gln2143Pro)
c.6431A>C (p.Gln2144Pro)
n.4694A>C
c.7652A>C (p.Gln2551Pro)
c.7031A>C (p.Gln2344Pro)
c.7751A>C (p.Gln2584Pro)
c.8249A>C (p.Gln2750Pro)
c.5846A>C (p.Gln1949Pro)
2g.237340664T=CA1337608810COL6A3c.897A=
c.7634A= (p.Gln2545=)
c.255A=
n.519A=
c.8252A= (p.Gln2751=)
c.6428A= (p.Gln2143=)
c.6431A= (p.Gln2144=)
n.4694A=
c.7652A= (p.Gln2551=)
c.7031A= (p.Gln2344=)
c.7751A= (p.Gln2584=)
c.8249A= (p.Gln2750=)
c.5846A= (p.Gln1949=)
2g.237340665G>ACA351195786COL6A3c.896C>T
c.7633C>T (p.Gln2545Ter)
c.254C>T
n.518C>T
c.8251C>T (p.Gln2751Ter)
c.6427C>T (p.Gln2143Ter)
c.6430C>T (p.Gln2144Ter)
n.4693C>T
c.7651C>T (p.Gln2551Ter)
c.7030C>T (p.Gln2344Ter)
c.7750C>T (p.Gln2584Ter)
c.8248C>T (p.Gln2750Ter)
c.5845C>T (p.Gln1949Ter)
2g.237340665G>CCA351195787COL6A3c.896C>G
c.7633C>G (p.Gln2545Glu)
c.254C>G
n.518C>G
c.8251C>G (p.Gln2751Glu)
c.6427C>G (p.Gln2143Glu)
c.6430C>G (p.Gln2144Glu)
n.4693C>G
c.7651C>G (p.Gln2551Glu)
c.7030C>G (p.Gln2344Glu)
c.7750C>G (p.Gln2584Glu)
c.8248C>G (p.Gln2750Glu)
c.5845C>G (p.Gln1949Glu)
2g.237340665G>TCA351195790COL6A3c.896C>A
c.7633C>A (p.Gln2545Lys)
c.254C>A
n.518C>A
c.8251C>A (p.Gln2751Lys)
c.6427C>A (p.Gln2143Lys)
c.6430C>A (p.Gln2144Lys)
n.4693C>A
c.7651C>A (p.Gln2551Lys)
c.7030C>A (p.Gln2344Lys)
c.7750C>A (p.Gln2584Lys)
c.8248C>A (p.Gln2750Lys)
c.5845C>A (p.Gln1949Lys)

Number of alleles fetched