Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237381217_237381941delinsGTTGCCA2580066112COL6A3c.695-442_977delinsGCAAC
c.1313-442_1595delinsGCAAC
c.92-442_374delinsGCAAC
c.92-4597_92-3873delinsGCAAC (n.92-4597_92-3873delinsGCAAC)
 ClinVar
2g.237381223T>ACA351217541COL6A3c.971A>T (p.Asp324Val)
c.1589A>T (p.Asp530Val)
c.368A>T (p.Asp123Val)
c.92-3879A>T (n.92-3879A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.237381223T>CCA351217542COL6A3c.971A>G (p.Asp324Gly)
c.1589A>G (p.Asp530Gly)
c.368A>G (p.Asp123Gly)
c.92-3879A>G (n.92-3879A>G)
2g.237381223T>GCA351217543COL6A3c.971A>C (p.Asp324Ala)
c.1589A>C (p.Asp530Ala)
c.368A>C (p.Asp123Ala)
c.92-3879A>C (n.92-3879A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.237381223T=CA1337627304COL6A3c.971A= (p.Asp324=)
c.1589A= (p.Asp530=)
c.368A= (p.Asp123=)
c.92-3879A= (n.92-3879A=)
2g.237381224C>ACA351217546COL6A3c.970G>T (p.Asp324Tyr)
c.1588G>T (p.Asp530Tyr)
c.367G>T (p.Asp123Tyr)
c.92-3880G>T (n.92-3880G>T)
2g.237381224C>GCA351217545COL6A3c.970G>C (p.Asp324His)
c.1588G>C (p.Asp530His)
c.367G>C (p.Asp123His)
c.92-3880G>C (n.92-3880G>C)
2g.237381224C>TCA351217544COL6A3c.970G>A (p.Asp324Asn)
c.1588G>A (p.Asp530Asn)
c.367G>A (p.Asp123Asn)
c.92-3880G>A (n.92-3880G>A)
2g.237381225T>ACA431712722COL6A3c.969A>T (p.Leu323=)
c.1587A>T (p.Leu529=)
c.366A>T (p.Leu122=)
c.92-3881A>T (n.92-3881A>T)
 ClinVar dbSNP gnomAD v4
2g.237381225T>CCA2189587COL6A3c.969A>G (p.Leu323=)
c.1587A>G (p.Leu529=)
c.366A>G (p.Leu122=)
c.92-3881A>G (n.92-3881A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237381225T>GCA431712723COL6A3c.969A>C (p.Leu323=)
c.1587A>C (p.Leu529=)
c.366A>C (p.Leu122=)
c.92-3881A>C (n.92-3881A>C)
2g.237381225T=CA1337627305COL6A3c.969A= (p.Leu323=)
c.1587A= (p.Leu529=)
c.366A= (p.Leu122=)
c.92-3881A= (n.92-3881A=)
2g.237381226A>CCA351217547COL6A3c.968T>G (p.Leu323Arg)
c.1586T>G (p.Leu529Arg)
c.365T>G (p.Leu122Arg)
c.92-3882T>G (n.92-3882T>G)
2g.237381226A>GCA351217548COL6A3c.968T>C (p.Leu323Pro)
c.1586T>C (p.Leu529Pro)
c.365T>C (p.Leu122Pro)
c.92-3882T>C (n.92-3882T>C)
2g.237381226A>TCA351217549COL6A3c.968T>A (p.Leu323Gln)
c.1586T>A (p.Leu529Gln)
c.365T>A (p.Leu122Gln)
c.92-3882T>A (n.92-3882T>A)
2g.237381227G>ACA431712726COL6A3c.967C>T (p.Leu323=)
c.1585C>T (p.Leu529=)
c.364C>T (p.Leu122=)
c.92-3883C>T (n.92-3883C>T)
 gnomAD v4
2g.237381227G>CCA351217551COL6A3c.967C>G (p.Leu323Val)
c.1585C>G (p.Leu529Val)
c.364C>G (p.Leu122Val)
c.92-3883C>G (n.92-3883C>G)
2g.237381227G>TCA351217554COL6A3c.967C>A (p.Leu323Ile)
c.1585C>A (p.Leu529Ile)
c.364C>A (p.Leu122Ile)
c.92-3883C>A (n.92-3883C>A)
2g.237381228A>CCA431712729COL6A3c.966T>G (p.Ala322=)
c.1584T>G (p.Ala528=)
c.363T>G (p.Ala121=)
c.92-3884T>G (n.92-3884T>G)
2g.237381228A>GCA431712731COL6A3c.966T>C (p.Ala322=)
c.1584T>C (p.Ala528=)
c.363T>C (p.Ala121=)
c.92-3884T>C (n.92-3884T>C)
 gnomAD v4
2g.237381228A>TCA431712732COL6A3c.966T>A (p.Ala322=)
c.1584T>A (p.Ala528=)
c.363T>A (p.Ala121=)
c.92-3884T>A (n.92-3884T>A)
2g.237381229G>ACA2189588COL6A3c.965C>T (p.Ala322Val)
c.1583C>T (p.Ala528Val)
c.362C>T (p.Ala121Val)
c.92-3885C>T (n.92-3885C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237381229G>CCA351217555COL6A3c.965C>G (p.Ala322Gly)
c.1583C>G (p.Ala528Gly)
c.362C>G (p.Ala121Gly)
c.92-3885C>G (n.92-3885C>G)
 ClinVar
2g.237381229G=CA1337627306COL6A3c.965C= (p.Ala322=)
c.1583C= (p.Ala528=)
c.362C= (p.Ala121=)
c.92-3885C= (n.92-3885C=)
2g.237381229G>TCA351217557COL6A3c.965C>A (p.Ala322Asp)
c.1583C>A (p.Ala528Asp)
c.362C>A (p.Ala121Asp)
c.92-3885C>A (n.92-3885C>A)
2g.237381230C>ACA351217559COL6A3c.964G>T (p.Ala322Ser)
c.1582G>T (p.Ala528Ser)
c.361G>T (p.Ala121Ser)
c.92-3886G>T (n.92-3886G>T)
2g.237381230C=CA1337627307COL6A3c.964G= (p.Ala322=)
c.1582G= (p.Ala528=)
c.361G= (p.Ala121=)
c.92-3886G= (n.92-3886G=)
2g.237381230C>GCA351217560COL6A3c.964G>C (p.Ala322Pro)
c.1582G>C (p.Ala528Pro)
c.361G>C (p.Ala121Pro)
c.92-3886G>C (n.92-3886G>C)
2g.237381230C>TCA67830599COL6A3c.964G>A (p.Ala322Thr)
c.1582G>A (p.Ala528Thr)
c.361G>A (p.Ala121Thr)
c.92-3886G>A (n.92-3886G>A)
 ClinVar dbSNP gnomAD v4
2g.237381231A>CCA431712736COL6A3c.963T>G (p.Ser321=)
c.1581T>G (p.Ser527=)
c.360T>G (p.Ser120=)
c.92-3887T>G (n.92-3887T>G)
2g.237381231A>GCA431712738COL6A3c.963T>C (p.Ser321=)
c.1581T>C (p.Ser527=)
c.360T>C (p.Ser120=)
c.92-3887T>C (n.92-3887T>C)
2g.237381231A>TCA431712737COL6A3c.963T>A (p.Ser321=)
c.1581T>A (p.Ser527=)
c.360T>A (p.Ser120=)
c.92-3887T>A (n.92-3887T>A)
2g.237381232G>ACA351217565COL6A3c.962C>T (p.Ser321Phe)
c.1580C>T (p.Ser527Phe)
c.359C>T (p.Ser120Phe)
c.92-3888C>T (n.92-3888C>T)
2g.237381232G>CCA351217564COL6A3c.962C>G (p.Ser321Cys)
c.1580C>G (p.Ser527Cys)
c.359C>G (p.Ser120Cys)
c.92-3888C>G (n.92-3888C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237381232G=CA1337627308COL6A3c.962C= (p.Ser321=)
c.1580C= (p.Ser527=)
c.359C= (p.Ser120=)
c.92-3888C= (n.92-3888C=)
2g.237381232G>TCA351217562COL6A3c.962C>A (p.Ser321Tyr)
c.1580C>A (p.Ser527Tyr)
c.359C>A (p.Ser120Tyr)
c.92-3888C>A (n.92-3888C>A)
2g.237381233A>CCA351217567COL6A3c.961T>G (p.Ser321Ala)
c.1579T>G (p.Ser527Ala)
c.358T>G (p.Ser120Ala)
c.92-3889T>G (n.92-3889T>G)
2g.237381233A>GCA351217569COL6A3c.961T>C (p.Ser321Pro)
c.1579T>C (p.Ser527Pro)
c.358T>C (p.Ser120Pro)
c.92-3889T>C (n.92-3889T>C)
2g.237381233A>TCA351217571COL6A3c.961T>A (p.Ser321Thr)
c.1579T>A (p.Ser527Thr)
c.358T>A (p.Ser120Thr)
c.92-3889T>A (n.92-3889T>A)
2g.237381234G>ACA431712739COL6A3c.960C>T (p.Gly320=)
c.1578C>T (p.Gly526=)
c.357C>T (p.Gly119=)
c.92-3890C>T (n.92-3890C>T)
2g.237381234G>CCA431712740COL6A3c.960C>G (p.Gly320=)
c.1578C>G (p.Gly526=)
c.357C>G (p.Gly119=)
c.92-3890C>G (n.92-3890C>G)
2g.237381234G>TCA431712742COL6A3c.960C>A (p.Gly320=)
c.1578C>A (p.Gly526=)
c.357C>A (p.Gly119=)
c.92-3890C>A (n.92-3890C>A)
2g.237381235C>ACA351217577COL6A3c.959G>T (p.Gly320Val)
c.1577G>T (p.Gly526Val)
c.356G>T (p.Gly119Val)
c.92-3891G>T (n.92-3891G>T)
2g.237381235C>GCA351217579COL6A3c.959G>C (p.Gly320Ala)
c.1577G>C (p.Gly526Ala)
c.356G>C (p.Gly119Ala)
c.92-3891G>C (n.92-3891G>C)
 gnomAD v4
2g.237381235C>TCA351217580COL6A3c.959G>A (p.Gly320Asp)
c.1577G>A (p.Gly526Asp)
c.356G>A (p.Gly119Asp)
c.92-3891G>A (n.92-3891G>A)
2g.237381236C>ACA351217581COL6A3c.958G>T (p.Gly320Cys)
c.1576G>T (p.Gly526Cys)
c.355G>T (p.Gly119Cys)
c.92-3892G>T (n.92-3892G>T)
2g.237381236C=CA1337627309COL6A3c.958G= (p.Gly320=)
c.1576G= (p.Gly526=)
c.355G= (p.Gly119=)
c.92-3892G= (n.92-3892G=)
2g.237381236C>GCA351217583COL6A3c.958G>C (p.Gly320Arg)
c.1576G>C (p.Gly526Arg)
c.355G>C (p.Gly119Arg)
c.92-3892G>C (n.92-3892G>C)
2g.237381236C>TCA2189589COL6A3c.958G>A (p.Gly320Ser)
c.1576G>A (p.Gly526Ser)
c.355G>A (p.Gly119Ser)
c.92-3892G>A (n.92-3892G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237381237C>ACA431712743COL6A3c.957G>T (p.Thr319=)
c.1575G>T (p.Thr525=)
c.354G>T (p.Thr118=)
c.92-3893G>T (n.92-3893G>T)

Number of alleles fetched