Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237380930A>CCA351215439COL6A3c.1264T>G (p.Ser422Ala)
c.1882T>G (p.Ser628Ala)
c.661T>G (p.Ser221Ala)
c.92-3586T>G (n.92-3586T>G)
2g.237380930A>GCA351215437COL6A3c.1264T>C (p.Ser422Pro)
c.1882T>C (p.Ser628Pro)
c.661T>C (p.Ser221Pro)
c.92-3586T>C (n.92-3586T>C)
2g.237380930A>TCA351215436COL6A3c.1264T>A (p.Ser422Thr)
c.1882T>A (p.Ser628Thr)
c.661T>A (p.Ser221Thr)
c.92-3586T>A (n.92-3586T>A)
2g.237380931G>ACA2189535COL6A3c.1263C>T (p.Leu421=)
c.1881C>T (p.Leu627=)
c.660C>T (p.Leu220=)
c.92-3587C>T (n.92-3587C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380931G>CCA431674657COL6A3c.1263C>G (p.Leu421=)
c.1881C>G (p.Leu627=)
c.660C>G (p.Leu220=)
c.92-3587C>G (n.92-3587C>G)
2g.237380931G=CA1337627191COL6A3c.1263C= (p.Leu421=)
c.1881C= (p.Leu627=)
c.660C= (p.Leu220=)
c.92-3587C= (n.92-3587C=)
2g.237380931G>TCA431674659COL6A3c.1263C>A (p.Leu421=)
c.1881C>A (p.Leu627=)
c.660C>A (p.Leu220=)
c.92-3587C>A (n.92-3587C>A)
 gnomAD v4
2g.237380932A>CCA351215442COL6A3c.1262T>G (p.Leu421Arg)
c.1880T>G (p.Leu627Arg)
c.659T>G (p.Leu220Arg)
c.92-3588T>G (n.92-3588T>G)
2g.237380932A>GCA351215444COL6A3c.1262T>C (p.Leu421Pro)
c.1880T>C (p.Leu627Pro)
c.659T>C (p.Leu220Pro)
c.92-3588T>C (n.92-3588T>C)
2g.237380932A>TCA351215446COL6A3c.1262T>A (p.Leu421His)
c.1880T>A (p.Leu627His)
c.659T>A (p.Leu220His)
c.92-3588T>A (n.92-3588T>A)
2g.237380933G>ACA351215448COL6A3c.1261C>T (p.Leu421Phe)
c.1879C>T (p.Leu627Phe)
c.658C>T (p.Leu220Phe)
c.92-3589C>T (n.92-3589C>T)
2g.237380933G>CCA351215450COL6A3c.1261C>G (p.Leu421Val)
c.1879C>G (p.Leu627Val)
c.658C>G (p.Leu220Val)
c.92-3589C>G (n.92-3589C>G)
2g.237380933G>TCA351215451COL6A3c.1261C>A (p.Leu421Ile)
c.1879C>A (p.Leu627Ile)
c.658C>A (p.Leu220Ile)
c.92-3589C>A (n.92-3589C>A)
2g.237380934G>ACA431674660COL6A3c.1260C>T (p.Thr420=)
c.1878C>T (p.Thr626=)
c.657C>T (p.Thr219=)
c.92-3590C>T (n.92-3590C>T)
2g.237380934G>CCA431674663COL6A3c.1260C>G (p.Thr420=)
c.1878C>G (p.Thr626=)
c.657C>G (p.Thr219=)
c.92-3590C>G (n.92-3590C>G)
2g.237380934G>TCA431674661COL6A3c.1260C>A (p.Thr420=)
c.1878C>A (p.Thr626=)
c.657C>A (p.Thr219=)
c.92-3590C>A (n.92-3590C>A)
2g.237380935G>ACA351215454COL6A3c.1259C>T (p.Thr420Ile)
c.1877C>T (p.Thr626Ile)
c.656C>T (p.Thr219Ile)
c.92-3591C>T (n.92-3591C>T)
 gnomAD v4
2g.237380935G>CCA351215455COL6A3c.1259C>G (p.Thr420Ser)
c.1877C>G (p.Thr626Ser)
c.656C>G (p.Thr219Ser)
c.92-3591C>G (n.92-3591C>G)
2g.237380935G>TCA351215457COL6A3c.1259C>A (p.Thr420Asn)
c.1877C>A (p.Thr626Asn)
c.656C>A (p.Thr219Asn)
c.92-3591C>A (n.92-3591C>A)
2g.237380936T>ACA351215460COL6A3c.1258A>T (p.Thr420Ser)
c.1876A>T (p.Thr626Ser)
c.655A>T (p.Thr219Ser)
c.92-3592A>T (n.92-3592A>T)
2g.237380936T>CCA351215461COL6A3c.1258A>G (p.Thr420Ala)
c.1876A>G (p.Thr626Ala)
c.655A>G (p.Thr219Ala)
c.92-3592A>G (n.92-3592A>G)
2g.237380936T>GCA351215462COL6A3c.1258A>C (p.Thr420Pro)
c.1876A>C (p.Thr626Pro)
c.655A>C (p.Thr219Pro)
c.92-3592A>C (n.92-3592A>C)
2g.237380937C>ACA351215464COL6A3c.1257G>T (p.Arg419Ser)
c.1875G>T (p.Arg625Ser)
c.654G>T (p.Arg218Ser)
c.92-3593G>T (n.92-3593G>T)
2g.237380937C=CA1337627192COL6A3c.1257G= (p.Arg419=)
c.1875G= (p.Arg625=)
c.654G= (p.Arg218=)
c.92-3593G= (n.92-3593G=)
2g.237380937C>GCA351215466COL6A3c.1257G>C (p.Arg419Ser)
c.1875G>C (p.Arg625Ser)
c.654G>C (p.Arg218Ser)
c.92-3593G>C (n.92-3593G>C)
2g.237380937C>TCA431674665COL6A3c.1257G>A (p.Arg419=)
c.1875G>A (p.Arg625=)
c.654G>A (p.Arg218=)
c.92-3593G>A (n.92-3593G>A)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.237380938C>ACA351215469COL6A3c.1256G>T (p.Arg419Met)
c.1874G>T (p.Arg625Met)
c.653G>T (p.Arg218Met)
c.92-3594G>T (n.92-3594G>T)
2g.237380938C=CA1337627193COL6A3c.1256G= (p.Arg419=)
c.1874G= (p.Arg625=)
c.653G= (p.Arg218=)
c.92-3594G= (n.92-3594G=)
2g.237380938C>GCA2189536COL6A3c.1256G>C (p.Arg419Thr)
c.1874G>C (p.Arg625Thr)
c.653G>C (p.Arg218Thr)
c.92-3594G>C (n.92-3594G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380938C>TCA351215470COL6A3c.1256G>A (p.Arg419Lys)
c.1874G>A (p.Arg625Lys)
c.653G>A (p.Arg218Lys)
c.92-3594G>A (n.92-3594G>A)
2g.237380939T>ACA351215473COL6A3c.1255A>T (p.Arg419Trp)
c.1873A>T (p.Arg625Trp)
c.652A>T (p.Arg218Trp)
c.92-3595A>T (n.92-3595A>T)
2g.237380939T>CCA351215475COL6A3c.1255A>G (p.Arg419Gly)
c.1873A>G (p.Arg625Gly)
c.652A>G (p.Arg218Gly)
c.92-3595A>G (n.92-3595A>G)
2g.237380939T>GCA431674668COL6A3c.1255A>C (p.Arg419=)
c.1873A>C (p.Arg625=)
c.652A>C (p.Arg218=)
c.92-3595A>C (n.92-3595A>C)
2g.237380940G>ACA431674669COL6A3c.1254C>T (p.Leu418=)
c.1872C>T (p.Leu624=)
c.651C>T (p.Leu217=)
c.92-3596C>T (n.92-3596C>T)
 gnomAD v4
2g.237380940G>CCA431674670COL6A3c.1254C>G (p.Leu418=)
c.1872C>G (p.Leu624=)
c.651C>G (p.Leu217=)
c.92-3596C>G (n.92-3596C>G)
 gnomAD v4
2g.237380940G=CA1337627194COL6A3c.1254C= (p.Leu418=)
c.1872C= (p.Leu624=)
c.651C= (p.Leu217=)
c.92-3596C= (n.92-3596C=)
2g.237380940G>TCA10606233COL6A3c.1254C>A (p.Leu418=)
c.1872C>A (p.Leu624=)
c.651C>A (p.Leu217=)
c.92-3596C>A (n.92-3596C>A)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.237380941A>CCA351215477COL6A3c.1253T>G (p.Leu418Arg)
c.1871T>G (p.Leu624Arg)
c.650T>G (p.Leu217Arg)
c.92-3597T>G (n.92-3597T>G)
2g.237380941A>GCA351215479COL6A3c.1253T>C (p.Leu418Pro)
c.1871T>C (p.Leu624Pro)
c.650T>C (p.Leu217Pro)
c.92-3597T>C (n.92-3597T>C)
2g.237380941A>TCA351215481COL6A3c.1253T>A (p.Leu418His)
c.1871T>A (p.Leu624His)
c.650T>A (p.Leu217His)
c.92-3597T>A (n.92-3597T>A)
2g.237380942G>ACA351215483COL6A3c.1252C>T (p.Leu418Phe)
c.1870C>T (p.Leu624Phe)
c.649C>T (p.Leu217Phe)
c.92-3598C>T (n.92-3598C>T)
 COSMIC COSMIC
2g.237380942G>CCA351215485COL6A3c.1252C>G (p.Leu418Val)
c.1870C>G (p.Leu624Val)
c.649C>G (p.Leu217Val)
c.92-3598C>G (n.92-3598C>G)
2g.237380942G>TCA351215487COL6A3c.1252C>A (p.Leu418Ile)
c.1870C>A (p.Leu624Ile)
c.649C>A (p.Leu217Ile)
c.92-3598C>A (n.92-3598C>A)
2g.237380943A>CCA431674671COL6A3c.1251T>G (p.Pro417=)
c.1869T>G (p.Pro623=)
c.648T>G (p.Pro216=)
c.92-3599T>G (n.92-3599T>G)
2g.237380943A>GCA431674672COL6A3c.1251T>C (p.Pro417=)
c.1869T>C (p.Pro623=)
c.648T>C (p.Pro216=)
c.92-3599T>C (n.92-3599T>C)
2g.237380943A>TCA431674674COL6A3c.1251T>A (p.Pro417=)
c.1869T>A (p.Pro623=)
c.648T>A (p.Pro216=)
c.92-3599T>A (n.92-3599T>A)
2g.237380944G>ACA351215490COL6A3c.1250C>T (p.Pro417Leu)
c.1868C>T (p.Pro623Leu)
c.647C>T (p.Pro216Leu)
c.92-3600C>T (n.92-3600C>T)
2g.237380944G>CCA351215492COL6A3c.1250C>G (p.Pro417Arg)
c.1868C>G (p.Pro623Arg)
c.647C>G (p.Pro216Arg)
c.92-3600C>G (n.92-3600C>G)
 ClinVar gnomAD v4 COSMIC COSMIC
2g.237380944G>TCA351215493COL6A3c.1250C>A (p.Pro417His)
c.1868C>A (p.Pro623His)
c.647C>A (p.Pro216His)
c.92-3600C>A (n.92-3600C>A)
2g.237380945G>ACA2189537COL6A3c.1249C>T (p.Pro417Ser)
c.1867C>T (p.Pro623Ser)
c.646C>T (p.Pro216Ser)
c.92-3601C>T (n.92-3601C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380945G>CCA351215499COL6A3c.1249C>G (p.Pro417Ala)
c.1867C>G (p.Pro623Ala)
c.646C>G (p.Pro216Ala)
c.92-3601C>G (n.92-3601C>G)
2g.237380945G=CA1337627195COL6A3c.1249C= (p.Pro417=)
c.1867C= (p.Pro623=)
c.646C= (p.Pro216=)
c.92-3601C= (n.92-3601C=)
2g.237380945G>TCA351215497COL6A3c.1249C>A (p.Pro417Thr)
c.1867C>A (p.Pro623Thr)
c.646C>A (p.Pro216Thr)
c.92-3601C>A (n.92-3601C>A)
2g.237380946T>ACA431674675COL6A3c.1248A>T (p.Ala416=)
c.1866A>T (p.Ala622=)
c.645A>T (p.Ala215=)
c.92-3602A>T (n.92-3602A>T)
2g.237380946T>CCA2189538COL6A3c.1248A>G (p.Ala416=)
c.1866A>G (p.Ala622=)
c.645A>G (p.Ala215=)
c.92-3602A>G (n.92-3602A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237380946T>GCA431674677COL6A3c.1248A>C (p.Ala416=)
c.1866A>C (p.Ala622=)
c.645A>C (p.Ala215=)
c.92-3602A>C (n.92-3602A>C)
2g.237380946T=CA1337627196COL6A3c.1248A= (p.Ala416=)
c.1866A= (p.Ala622=)
c.645A= (p.Ala215=)
c.92-3602A= (n.92-3602A=)
2g.237380947G>ACA351215502COL6A3c.1247C>T (p.Ala416Val)
c.1865C>T (p.Ala622Val)
c.644C>T (p.Ala215Val)
c.92-3603C>T (n.92-3603C>T)
 COSMIC
2g.237380947G>CCA351215503COL6A3c.1247C>G (p.Ala416Gly)
c.1865C>G (p.Ala622Gly)
c.644C>G (p.Ala215Gly)
c.92-3603C>G (n.92-3603C>G)
2g.237380947G=CA1337627197COL6A3c.1247C= (p.Ala416=)
c.1865C= (p.Ala622=)
c.644C= (p.Ala215=)
c.92-3603C= (n.92-3603C=)
2g.237380947G>TCA351215504COL6A3c.1247C>A (p.Ala416Glu)
c.1865C>A (p.Ala622Glu)
c.644C>A (p.Ala215Glu)
c.92-3603C>A (n.92-3603C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.237380952_237380959delCA2577290182COL6A3c.1240_1247del (p.Leu414ThrfsTer10)
c.1858_1865del (p.Leu620ThrfsTer10)
c.637_644del (p.Leu213ThrfsTer10)
c.92-3610_92-3603del (n.92-3610_92-3603del)
2g.237380948C>ACA351215505COL6A3c.1246G>T (p.Ala416Ser)
c.1864G>T (p.Ala622Ser)
c.643G>T (p.Ala215Ser)
c.92-3604G>T (n.92-3604G>T)
2g.237380948C=CA1337627198COL6A3c.1246G= (p.Ala416=)
c.1864G= (p.Ala622=)
c.643G= (p.Ala215=)
c.92-3604G= (n.92-3604G=)
2g.237380948C>GCA351215506COL6A3c.1246G>C (p.Ala416Pro)
c.1864G>C (p.Ala622Pro)
c.643G>C (p.Ala215Pro)
c.92-3604G>C (n.92-3604G>C)
2g.237380948C>TCA2189539COL6A3c.1246G>A (p.Ala416Thr)
c.1864G>A (p.Ala622Thr)
c.643G>A (p.Ala215Thr)
c.92-3604G>A (n.92-3604G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237380949C>ACA431674682COL6A3c.1245G>T (p.Leu415=)
c.1863G>T (p.Leu621=)
c.642G>T (p.Leu214=)
c.92-3605G>T (n.92-3605G>T)
2g.237380949C>GCA431674679COL6A3c.1245G>C (p.Leu415=)
c.1863G>C (p.Leu621=)
c.642G>C (p.Leu214=)
c.92-3605G>C (n.92-3605G>C)
2g.237380949C>TCA431674680COL6A3c.1245G>A (p.Leu415=)
c.1863G>A (p.Leu621=)
c.642G>A (p.Leu214=)
c.92-3605G>A (n.92-3605G>A)
2g.237380949_237380950insCGCA2561546323COL6A3c.1244_1245insCG (p.Ala416GlyfsTer?)
c.1862_1863insCG (p.Ala622GlyfsTer?)
c.641_642insCG (p.Ala215GlyfsTer?)
c.92-3606_92-3605insCG (n.92-3606_92-3605insCG)
2g.237380950A>CCA351215507COL6A3c.1244T>G (p.Leu415Arg)
c.1862T>G (p.Leu621Arg)
c.641T>G (p.Leu214Arg)
c.92-3606T>G (n.92-3606T>G)
2g.237380950A>GCA351215508COL6A3c.1244T>C (p.Leu415Pro)
c.1862T>C (p.Leu621Pro)
c.641T>C (p.Leu214Pro)
c.92-3606T>C (n.92-3606T>C)
2g.237380950A>TCA351215509COL6A3c.1244T>A (p.Leu415Gln)
c.1862T>A (p.Leu621Gln)
c.641T>A (p.Leu214Gln)
c.92-3606T>A (n.92-3606T>A)
2g.237380951G>ACA2189540COL6A3c.1243C>T (p.Leu415=)
c.1861C>T (p.Leu621=)
c.640C>T (p.Leu214=)
c.92-3607C>T (n.92-3607C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380951G>CCA351215511COL6A3c.1243C>G (p.Leu415Val)
c.1861C>G (p.Leu621Val)
c.640C>G (p.Leu214Val)
c.92-3607C>G (n.92-3607C>G)
2g.237380951G=CA1337627199COL6A3c.1243C= (p.Leu415=)
c.1861C= (p.Leu621=)
c.640C= (p.Leu214=)
c.92-3607C= (n.92-3607C=)
2g.237380951G>TCA351215510COL6A3c.1243C>A (p.Leu415Met)
c.1861C>A (p.Leu621Met)
c.640C>A (p.Leu214Met)
c.92-3607C>A (n.92-3607C>A)
2g.237380952C>ACA351215512COL6A3c.1242G>T (p.Leu414Phe)
c.1860G>T (p.Leu620Phe)
c.639G>T (p.Leu213Phe)
c.92-3608G>T (n.92-3608G>T)
 gnomAD v4
2g.237380952C>GCA351215513COL6A3c.1242G>C (p.Leu414Phe)
c.1860G>C (p.Leu620Phe)
c.639G>C (p.Leu213Phe)
c.92-3608G>C (n.92-3608G>C)
2g.237380952C>TCA431674683COL6A3c.1242G>A (p.Leu414=)
c.1860G>A (p.Leu620=)
c.639G>A (p.Leu213=)
c.92-3608G>A (n.92-3608G>A)
2g.237380953A>CCA351215514COL6A3c.1241T>G (p.Leu414Trp)
c.1859T>G (p.Leu620Trp)
c.638T>G (p.Leu213Trp)
c.92-3609T>G (n.92-3609T>G)
2g.237380953A>GCA351215515COL6A3c.1241T>C (p.Leu414Ser)
c.1859T>C (p.Leu620Ser)
c.638T>C (p.Leu213Ser)
c.92-3609T>C (n.92-3609T>C)
2g.237380953A>TCA351215516COL6A3c.1241T>A (p.Leu414Ter)
c.1859T>A (p.Leu620Ter)
c.638T>A (p.Leu213Ter)
c.92-3609T>A (n.92-3609T>A)
2g.237380954A>CCA351215517COL6A3c.1240T>G (p.Leu414Val)
c.1858T>G (p.Leu620Val)
c.637T>G (p.Leu213Val)
c.92-3610T>G (n.92-3610T>G)
2g.237380954A>GCA431674685COL6A3c.1240T>C (p.Leu414=)
c.1858T>C (p.Leu620=)
c.637T>C (p.Leu213=)
c.92-3610T>C (n.92-3610T>C)
2g.237380954A>TCA351215518COL6A3c.1240T>A (p.Leu414Met)
c.1858T>A (p.Leu620Met)
c.637T>A (p.Leu213Met)
c.92-3610T>A (n.92-3610T>A)
2g.237380955G>ACA2189541COL6A3c.1239C>T (p.Gly413=)
c.1857C>T (p.Gly619=)
c.636C>T (p.Gly212=)
c.92-3611C>T (n.92-3611C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380955G>CCA431674686COL6A3c.1239C>G (p.Gly413=)
c.1857C>G (p.Gly619=)
c.636C>G (p.Gly212=)
c.92-3611C>G (n.92-3611C>G)
2g.237380955G=CA1337627200COL6A3c.1239C= (p.Gly413=)
c.1857C= (p.Gly619=)
c.636C= (p.Gly212=)
c.92-3611C= (n.92-3611C=)
2g.237380955G>TCA431674687COL6A3c.1239C>A (p.Gly413=)
c.1857C>A (p.Gly619=)
c.636C>A (p.Gly212=)
c.92-3611C>A (n.92-3611C>A)
2g.237380956C>ACA351215519COL6A3c.1238G>T (p.Gly413Val)
c.1856G>T (p.Gly619Val)
c.635G>T (p.Gly212Val)
c.92-3612G>T (n.92-3612G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.237380956C=CA1337627201COL6A3c.1238G= (p.Gly413=)
c.1856G= (p.Gly619=)
c.635G= (p.Gly212=)
c.92-3612G= (n.92-3612G=)
2g.237380956C>GCA351215520COL6A3c.1238G>C (p.Gly413Ala)
c.1856G>C (p.Gly619Ala)
c.635G>C (p.Gly212Ala)
c.92-3612G>C (n.92-3612G>C)
 dbSNP gnomAD v4
2g.237380956C>TCA351215521COL6A3c.1238G>A (p.Gly413Asp)
c.1856G>A (p.Gly619Asp)
c.635G>A (p.Gly212Asp)
c.92-3612G>A (n.92-3612G>A)
2g.237380957delCA2663799120COL6A3c.1238del (p.Gly413AlafsTer?)
c.1856del (p.Gly619AlafsTer?)
c.635del (p.Gly212AlafsTer?)
c.92-3612del (n.92-3612del)
 gnomAD v4
2g.237380957C>ACA351215522COL6A3c.1237G>T (p.Gly413Cys)
c.1855G>T (p.Gly619Cys)
c.634G>T (p.Gly212Cys)
c.92-3613G>T (n.92-3613G>T)
2g.237380957C>GCA351215523COL6A3c.1237G>C (p.Gly413Arg)
c.1855G>C (p.Gly619Arg)
c.634G>C (p.Gly212Arg)
c.92-3613G>C (n.92-3613G>C)
2g.237380957C>TCA351215524COL6A3c.1237G>A (p.Gly413Ser)
c.1855G>A (p.Gly619Ser)
c.634G>A (p.Gly212Ser)
c.92-3613G>A (n.92-3613G>A)
2g.237380958A>CCA431674688COL6A3c.1236T>G (p.Pro412=)
c.1854T>G (p.Pro618=)
c.633T>G (p.Pro211=)
c.92-3614T>G (n.92-3614T>G)
2g.237380958A>GCA431674690COL6A3c.1236T>C (p.Pro412=)
c.1854T>C (p.Pro618=)
c.633T>C (p.Pro211=)
c.92-3614T>C (n.92-3614T>C)
2g.237380958A>TCA431674689COL6A3c.1236T>A (p.Pro412=)
c.1854T>A (p.Pro618=)
c.633T>A (p.Pro211=)
c.92-3614T>A (n.92-3614T>A)
2g.237380959G>ACA351215525COL6A3c.1235C>T (p.Pro412Leu)
c.1853C>T (p.Pro618Leu)
c.632C>T (p.Pro211Leu)
c.92-3615C>T (n.92-3615C>T)
2g.237380959G>CCA351215527COL6A3c.1235C>G (p.Pro412Arg)
c.1853C>G (p.Pro618Arg)
c.632C>G (p.Pro211Arg)
c.92-3615C>G (n.92-3615C>G)
2g.237380959G>TCA351215526COL6A3c.1235C>A (p.Pro412His)
c.1853C>A (p.Pro618His)
c.632C>A (p.Pro211His)
c.92-3615C>A (n.92-3615C>A)
2g.237380960delCA2663799121COL6A3c.1235del (p.Pro412LeufsTer?)
c.1853del (p.Pro618LeufsTer?)
c.632del (p.Pro211LeufsTer?)
c.92-3615del (n.92-3615del)
 gnomAD v4
2g.237380960G>ACA67828100COL6A3c.1234C>T (p.Pro412Ser)
c.1852C>T (p.Pro618Ser)
c.631C>T (p.Pro211Ser)
c.92-3616C>T (n.92-3616C>T)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.237380960G>CCA351215528COL6A3c.1234C>G (p.Pro412Ala)
c.1852C>G (p.Pro618Ala)
c.631C>G (p.Pro211Ala)
c.92-3616C>G (n.92-3616C>G)
2g.237380960G=CA1337627202COL6A3c.1234C= (p.Pro412=)
c.1852C= (p.Pro618=)
c.631C= (p.Pro211=)
c.92-3616C= (n.92-3616C=)
2g.237380960G>TCA351215530COL6A3c.1234C>A (p.Pro412Thr)
c.1852C>A (p.Pro618Thr)
c.631C>A (p.Pro211Thr)
c.92-3616C>A (n.92-3616C>A)
2g.237380961C>ACA431674693COL6A3c.1233G>T (p.Leu411=)
c.1851G>T (p.Leu617=)
c.630G>T (p.Leu210=)
c.92-3617G>T (n.92-3617G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237380961C=CA1337627203COL6A3c.1233G= (p.Leu411=)
c.1851G= (p.Leu617=)
c.630G= (p.Leu210=)
c.92-3617G= (n.92-3617G=)
2g.237380961C>GCA431674691COL6A3c.1233G>C (p.Leu411=)
c.1851G>C (p.Leu617=)
c.630G>C (p.Leu210=)
c.92-3617G>C (n.92-3617G>C)
2g.237380961C>TCA431674692COL6A3c.1233G>A (p.Leu411=)
c.1851G>A (p.Leu617=)
c.630G>A (p.Leu210=)
c.92-3617G>A (n.92-3617G>A)
 COSMIC COSMIC
2g.237380962A=CA1337627204COL6A3c.1232T= (p.Leu411=)
c.1850T= (p.Leu617=)
c.629T= (p.Leu210=)
c.92-3618T= (n.92-3618T=)
2g.237380962A>CCA351215533COL6A3c.1232T>G (p.Leu411Arg)
c.1850T>G (p.Leu617Arg)
c.629T>G (p.Leu210Arg)
c.92-3618T>G (n.92-3618T>G)
2g.237380962A>GCA351215534COL6A3c.1232T>C (p.Leu411Pro)
c.1850T>C (p.Leu617Pro)
c.629T>C (p.Leu210Pro)
c.92-3618T>C (n.92-3618T>C)
2g.237380962A>TCA351215536COL6A3c.1232T>A (p.Leu411Gln)
c.1850T>A (p.Leu617Gln)
c.629T>A (p.Leu210Gln)
c.92-3618T>A (n.92-3618T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.237380963G>ACA2189542COL6A3c.1231C>T (p.Leu411=)
c.1849C>T (p.Leu617=)
c.628C>T (p.Leu210=)
c.92-3619C>T (n.92-3619C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380963G>CCA351215540COL6A3c.1231C>G (p.Leu411Val)
c.1849C>G (p.Leu617Val)
c.628C>G (p.Leu210Val)
c.92-3619C>G (n.92-3619C>G)
2g.237380963G=CA1337627205COL6A3c.1231C= (p.Leu411=)
c.1849C= (p.Leu617=)
c.628C= (p.Leu210=)
c.92-3619C= (n.92-3619C=)
2g.237380963G>TCA351215542COL6A3c.1231C>A (p.Leu411Met)
c.1849C>A (p.Leu617Met)
c.628C>A (p.Leu210Met)
c.92-3619C>A (n.92-3619C>A)
2g.237380964C>ACA351215545COL6A3c.1230G>T (p.Met410Ile)
c.1848G>T (p.Met616Ile)
c.627G>T (p.Met209Ile)
c.92-3620G>T (n.92-3620G>T)
2g.237380964C=CA1337627206COL6A3c.1230G= (p.Met410=)
c.1848G= (p.Met616=)
c.627G= (p.Met209=)
c.92-3620G= (n.92-3620G=)
2g.237380964C>GCA351215548COL6A3c.1230G>C (p.Met410Ile)
c.1848G>C (p.Met616Ile)
c.627G>C (p.Met209Ile)
c.92-3620G>C (n.92-3620G>C)
2g.237380964C>TCA351215550COL6A3c.1230G>A (p.Met410Ile)
c.1848G>A (p.Met616Ile)
c.627G>A (p.Met209Ile)
c.92-3620G>A (n.92-3620G>A)
 dbSNP gnomAD v4
2g.237380965A>CCA351215554COL6A3c.1229T>G (p.Met410Arg)
c.1847T>G (p.Met616Arg)
c.626T>G (p.Met209Arg)
c.92-3621T>G (n.92-3621T>G)
2g.237380965A>GCA351215560COL6A3c.1229T>C (p.Met410Thr)
c.1847T>C (p.Met616Thr)
c.626T>C (p.Met209Thr)
c.92-3621T>C (n.92-3621T>C)
2g.237380965A>TCA351215556COL6A3c.1229T>A (p.Met410Lys)
c.1847T>A (p.Met616Lys)
c.626T>A (p.Met209Lys)
c.92-3621T>A (n.92-3621T>A)
2g.237380966T>ACA351215562COL6A3c.1228A>T (p.Met410Leu)
c.1846A>T (p.Met616Leu)
c.625A>T (p.Met209Leu)
c.92-3622A>T (n.92-3622A>T)
 gnomAD v4
2g.237380966T>CCA10606203COL6A3c.1228A>G (p.Met410Val)
c.1846A>G (p.Met616Val)
c.625A>G (p.Met209Val)
c.92-3622A>G (n.92-3622A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237380966T>GCA351215565COL6A3c.1228A>C (p.Met410Leu)
c.1846A>C (p.Met616Leu)
c.625A>C (p.Met209Leu)
c.92-3622A>C (n.92-3622A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.237380966T=CA1337627207COL6A3c.1228A= (p.Met410=)
c.1846A= (p.Met616=)
c.625A= (p.Met209=)
c.92-3622A= (n.92-3622A=)
2g.237380967G>ACA431674694COL6A3c.1227C>T (p.Gly409=)
c.1845C>T (p.Gly615=)
c.624C>T (p.Gly208=)
c.92-3623C>T (n.92-3623C>T)
2g.237380967G>CCA431674695COL6A3c.1227C>G (p.Gly409=)
c.1845C>G (p.Gly615=)
c.624C>G (p.Gly208=)
c.92-3623C>G (n.92-3623C>G)
2g.237380967G>TCA431674696COL6A3c.1227C>A (p.Gly409=)
c.1845C>A (p.Gly615=)
c.624C>A (p.Gly208=)
c.92-3623C>A (n.92-3623C>A)
 gnomAD v4
2g.237380968C>ACA351215567COL6A3c.1226G>T (p.Gly409Val)
c.1844G>T (p.Gly615Val)
c.623G>T (p.Gly208Val)
c.92-3624G>T (n.92-3624G>T)
 gnomAD v4
2g.237380968C=CA1337627208COL6A3c.1226G= (p.Gly409=)
c.1844G= (p.Gly615=)
c.623G= (p.Gly208=)
c.92-3624G= (n.92-3624G=)
2g.237380968C>GCA2189543COL6A3c.1226G>C (p.Gly409Ala)
c.1844G>C (p.Gly615Ala)
c.623G>C (p.Gly208Ala)
c.92-3624G>C (n.92-3624G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380968C>TCA351215572COL6A3c.1226G>A (p.Gly409Asp)
c.1844G>A (p.Gly615Asp)
c.623G>A (p.Gly208Asp)
c.92-3624G>A (n.92-3624G>A)
 dbSNP gnomAD v4
2g.237380969C>ACA351215576COL6A3c.1225G>T (p.Gly409Cys)
c.1843G>T (p.Gly615Cys)
c.622G>T (p.Gly208Cys)
c.92-3625G>T (n.92-3625G>T)
 COSMIC COSMIC
2g.237380969C>GCA351215578COL6A3c.1225G>C (p.Gly409Arg)
c.1843G>C (p.Gly615Arg)
c.622G>C (p.Gly208Arg)
c.92-3625G>C (n.92-3625G>C)
2g.237380969C>TCA351215581COL6A3c.1225G>A (p.Gly409Ser)
c.1843G>A (p.Gly615Ser)
c.622G>A (p.Gly208Ser)
c.92-3625G>A (n.92-3625G>A)
2g.237380970T>ACA351215599COL6A3c.1224A>T (p.Gln408His)
c.1842A>T (p.Gln614His)
c.621A>T (p.Gln207His)
c.92-3626A>T (n.92-3626A>T)
2g.237380970T>CCA431674697COL6A3c.1224A>G (p.Gln408=)
c.1842A>G (p.Gln614=)
c.621A>G (p.Gln207=)
c.92-3626A>G (n.92-3626A>G)
 dbSNP
2g.237380970T>GCA351215584COL6A3c.1224A>C (p.Gln408His)
c.1842A>C (p.Gln614His)
c.621A>C (p.Gln207His)
c.92-3626A>C (n.92-3626A>C)
2g.237380971T>ACA351215603COL6A3c.1223A>T (p.Gln408Leu)
c.1841A>T (p.Gln614Leu)
c.620A>T (p.Gln207Leu)
c.92-3627A>T (n.92-3627A>T)
2g.237380971T>CCA351215606COL6A3c.1223A>G (p.Gln408Arg)
c.1841A>G (p.Gln614Arg)
c.620A>G (p.Gln207Arg)
c.92-3627A>G (n.92-3627A>G)
 gnomAD v4
2g.237380971T>GCA351215610COL6A3c.1223A>C (p.Gln408Pro)
c.1841A>C (p.Gln614Pro)
c.620A>C (p.Gln207Pro)
c.92-3627A>C (n.92-3627A>C)
2g.237380972G>ACA351215616COL6A3c.1222C>T (p.Gln408Ter)
c.1840C>T (p.Gln614Ter)
c.619C>T (p.Gln207Ter)
c.92-3628C>T (n.92-3628C>T)
 ClinVar dbSNP
2g.237380972G>CCA351215617COL6A3c.1222C>G (p.Gln408Glu)
c.1840C>G (p.Gln614Glu)
c.619C>G (p.Gln207Glu)
c.92-3628C>G (n.92-3628C>G)
2g.237380972G=CA1337627209COL6A3c.1222C= (p.Gln408=)
c.1840C= (p.Gln614=)
c.619C= (p.Gln207=)
c.92-3628C= (n.92-3628C=)
2g.237380972G>TCA351215624COL6A3c.1222C>A (p.Gln408Lys)
c.1840C>A (p.Gln614Lys)
c.619C>A (p.Gln207Lys)
c.92-3628C>A (n.92-3628C>A)
2g.237380973C>ACA351215630COL6A3c.1221G>T (p.Leu407Phe)
c.1839G>T (p.Leu613Phe)
c.618G>T (p.Leu206Phe)
c.92-3629G>T (n.92-3629G>T)
 ClinVar gnomAD v4
2g.237380973C=CA1337627210COL6A3c.1221G= (p.Leu407=)
c.1839G= (p.Leu613=)
c.618G= (p.Leu206=)
c.92-3629G= (n.92-3629G=)
2g.237380973C>GCA351215626COL6A3c.1221G>C (p.Leu407Phe)
c.1839G>C (p.Leu613Phe)
c.618G>C (p.Leu206Phe)
c.92-3629G>C (n.92-3629G>C)
2g.237380973C>TCA67828112COL6A3c.1221G>A (p.Leu407=)
c.1839G>A (p.Leu613=)
c.618G>A (p.Leu206=)
c.92-3629G>A (n.92-3629G>A)
 ClinVar dbSNP gnomAD v4
2g.237380974A=CA1337627211COL6A3c.1220T= (p.Leu407=)
c.1838T= (p.Leu613=)
c.617T= (p.Leu206=)
c.92-3630T= (n.92-3630T=)
2g.237380974A>CCA351215633COL6A3c.1220T>G (p.Leu407Trp)
c.1838T>G (p.Leu613Trp)
c.617T>G (p.Leu206Trp)
c.92-3630T>G (n.92-3630T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237380974A>GCA351215635COL6A3c.1220T>C (p.Leu407Ser)
c.1838T>C (p.Leu613Ser)
c.617T>C (p.Leu206Ser)
c.92-3630T>C (n.92-3630T>C)
2g.237380974A>TCA351215638COL6A3c.1220T>A (p.Leu407Ter)
c.1838T>A (p.Leu613Ter)
c.617T>A (p.Leu206Ter)
c.92-3630T>A (n.92-3630T>A)
2g.237380975A>CCA351215641COL6A3c.1219T>G (p.Leu407Val)
c.1837T>G (p.Leu613Val)
c.616T>G (p.Leu206Val)
c.92-3631T>G (n.92-3631T>G)
2g.237380975A>GCA431674698COL6A3c.1219T>C (p.Leu407=)
c.1837T>C (p.Leu613=)
c.616T>C (p.Leu206=)
c.92-3631T>C (n.92-3631T>C)
 gnomAD v4
2g.237380975A>TCA351215642COL6A3c.1219T>A (p.Leu407Met)
c.1837T>A (p.Leu613Met)
c.616T>A (p.Leu206Met)
c.92-3631T>A (n.92-3631T>A)
2g.237380976T>ACA431674699COL6A3c.1218A>T (p.Pro406=)
c.1836A>T (p.Pro612=)
c.615A>T (p.Pro205=)
c.92-3632A>T (n.92-3632A>T)
2g.237380976T>CCA431674700COL6A3c.1218A>G (p.Pro406=)
c.1836A>G (p.Pro612=)
c.615A>G (p.Pro205=)
c.92-3632A>G (n.92-3632A>G)
 dbSNP gnomAD v4
2g.237380976T>GCA431674701COL6A3c.1218A>C (p.Pro406=)
c.1836A>C (p.Pro612=)
c.615A>C (p.Pro205=)
c.92-3632A>C (n.92-3632A>C)
2g.237380976T=CA1337627212COL6A3c.1218A= (p.Pro406=)
c.1836A= (p.Pro612=)
c.615A= (p.Pro205=)
c.92-3632A= (n.92-3632A=)
2g.237380977G>ACA351215645COL6A3c.1217C>T (p.Pro406Leu)
c.1835C>T (p.Pro612Leu)
c.614C>T (p.Pro205Leu)
c.92-3633C>T (n.92-3633C>T)
2g.237380977G>CCA351215648COL6A3c.1217C>G (p.Pro406Arg)
c.1835C>G (p.Pro612Arg)
c.614C>G (p.Pro205Arg)
c.92-3633C>G (n.92-3633C>G)
2g.237380977G>TCA351215650COL6A3c.1217C>A (p.Pro406Gln)
c.1835C>A (p.Pro612Gln)
c.614C>A (p.Pro205Gln)
c.92-3633C>A (n.92-3633C>A)
2g.237380978G>ACA2189545COL6A3c.1216C>T (p.Pro406Ser)
c.1834C>T (p.Pro612Ser)
c.613C>T (p.Pro205Ser)
c.92-3634C>T (n.92-3634C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237380978G>CCA2189544COL6A3c.1216C>G (p.Pro406Ala)
c.1834C>G (p.Pro612Ala)
c.613C>G (p.Pro205Ala)
c.92-3634C>G (n.92-3634C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380978G=CA1337627213COL6A3c.1216C= (p.Pro406=)
c.1834C= (p.Pro612=)
c.613C= (p.Pro205=)
c.92-3634C= (n.92-3634C=)
2g.237380978G>TCA351215658COL6A3c.1216C>A (p.Pro406Thr)
c.1834C>A (p.Pro612Thr)
c.613C>A (p.Pro205Thr)
c.92-3634C>A (n.92-3634C>A)
2g.237380979G>ACA2189546COL6A3c.1215C>T (p.Ala405=)
c.1833C>T (p.Ala611=)
c.612C>T (p.Ala204=)
c.92-3635C>T (n.92-3635C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380979G>CCA431674702COL6A3c.1215C>G (p.Ala405=)
c.1833C>G (p.Ala611=)
c.612C>G (p.Ala204=)
c.92-3635C>G (n.92-3635C>G)
2g.237380979G=CA1337627214COL6A3c.1215C= (p.Ala405=)
c.1833C= (p.Ala611=)
c.612C= (p.Ala204=)
c.92-3635C= (n.92-3635C=)
2g.237380979G>TCA431674703COL6A3c.1215C>A (p.Ala405=)
c.1833C>A (p.Ala611=)
c.612C>A (p.Ala204=)
c.92-3635C>A (n.92-3635C>A)
 ClinVar dbSNP gnomAD v4
2g.237380980G>ACA351215671COL6A3c.1214C>T (p.Ala405Val)
c.1832C>T (p.Ala611Val)
c.611C>T (p.Ala204Val)
c.92-3636C>T (n.92-3636C>T)
2g.237380980G>CCA351215684COL6A3c.1214C>G (p.Ala405Gly)
c.1832C>G (p.Ala611Gly)
c.611C>G (p.Ala204Gly)
c.92-3636C>G (n.92-3636C>G)
2g.237380980G>TCA351215674COL6A3c.1214C>A (p.Ala405Asp)
c.1832C>A (p.Ala611Asp)
c.611C>A (p.Ala204Asp)
c.92-3636C>A (n.92-3636C>A)
2g.237380981C>ACA351215686COL6A3c.1213G>T (p.Ala405Ser)
c.1831G>T (p.Ala611Ser)
c.610G>T (p.Ala204Ser)
c.92-3637G>T (n.92-3637G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.237380981C=CA1337627215COL6A3c.1213G= (p.Ala405=)
c.1831G= (p.Ala611=)
c.610G= (p.Ala204=)
c.92-3637G= (n.92-3637G=)
2g.237380981C>GCA351215687COL6A3c.1213G>C (p.Ala405Pro)
c.1831G>C (p.Ala611Pro)
c.610G>C (p.Ala204Pro)
c.92-3637G>C (n.92-3637G>C)
2g.237380981C>TCA2189547COL6A3c.1213G>A (p.Ala405Thr)
c.1831G>A (p.Ala611Thr)
c.610G>A (p.Ala204Thr)
c.92-3637G>A (n.92-3637G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237380982G>ACA2189548COL6A3c.1212C>T (p.Ala404=)
c.1830C>T (p.Ala610=)
c.609C>T (p.Ala203=)
c.92-3638C>T (n.92-3638C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380982G>CCA431674705COL6A3c.1212C>G (p.Ala404=)
c.1830C>G (p.Ala610=)
c.609C>G (p.Ala203=)
c.92-3638C>G (n.92-3638C>G)
 gnomAD v4
2g.237380982G=CA1337627216COL6A3c.1212C= (p.Ala404=)
c.1830C= (p.Ala610=)
c.609C= (p.Ala203=)
c.92-3638C= (n.92-3638C=)
2g.237380982G>TCA431674704COL6A3c.1212C>A (p.Ala404=)
c.1830C>A (p.Ala610=)
c.609C>A (p.Ala203=)
c.92-3638C>A (n.92-3638C>A)
 ClinVar dbSNP
2g.237380983G>ACA351215692COL6A3c.1211C>T (p.Ala404Val)
c.1829C>T (p.Ala610Val)
c.608C>T (p.Ala203Val)
c.92-3639C>T (n.92-3639C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237380983G>CCA351215695COL6A3c.1211C>G (p.Ala404Gly)
c.1829C>G (p.Ala610Gly)
c.608C>G (p.Ala203Gly)
c.92-3639C>G (n.92-3639C>G)
2g.237380983G=CA1337627217COL6A3c.1211C= (p.Ala404=)
c.1829C= (p.Ala610=)
c.608C= (p.Ala203=)
c.92-3639C= (n.92-3639C=)
2g.237380983G>TCA351215697COL6A3c.1211C>A (p.Ala404Asp)
c.1829C>A (p.Ala610Asp)
c.608C>A (p.Ala203Asp)
c.92-3639C>A (n.92-3639C>A)
2g.237380984C>ACA351215700COL6A3c.1210G>T (p.Ala404Ser)
c.1828G>T (p.Ala610Ser)
c.607G>T (p.Ala203Ser)
c.92-3640G>T (n.92-3640G>T)
2g.237380984C>GCA351215703COL6A3c.1210G>C (p.Ala404Pro)
c.1828G>C (p.Ala610Pro)
c.607G>C (p.Ala203Pro)
c.92-3640G>C (n.92-3640G>C)
2g.237380984C>TCA351215705COL6A3c.1210G>A (p.Ala404Thr)
c.1828G>A (p.Ala610Thr)
c.607G>A (p.Ala203Thr)
c.92-3640G>A (n.92-3640G>A)
2g.237380985T>ACA431674708COL6A3c.1209A>T (p.Arg403=)
c.1827A>T (p.Arg609=)
c.606A>T (p.Arg202=)
c.92-3641A>T (n.92-3641A>T)
2g.237380985T>CCA431674706COL6A3c.1209A>G (p.Arg403=)
c.1827A>G (p.Arg609=)
c.606A>G (p.Arg202=)
c.92-3641A>G (n.92-3641A>G)
2g.237380985T>GCA431674707COL6A3c.1209A>C (p.Arg403=)
c.1827A>C (p.Arg609=)
c.606A>C (p.Arg202=)
c.92-3641A>C (n.92-3641A>C)
2g.237380986C>ACA351215709COL6A3c.1208G>T (p.Arg403Leu)
c.1826G>T (p.Arg609Leu)
c.605G>T (p.Arg202Leu)
c.92-3642G>T (n.92-3642G>T)
 gnomAD v4
2g.237380986C=CA1337627218COL6A3c.1208G= (p.Arg403=)
c.1826G= (p.Arg609=)
c.605G= (p.Arg202=)
c.92-3642G= (n.92-3642G=)
2g.237380986C>GCA2189549COL6A3c.1208G>C (p.Arg403Pro)
c.1826G>C (p.Arg609Pro)
c.605G>C (p.Arg202Pro)
c.92-3642G>C (n.92-3642G>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.237380986C>TCA295305COL6A3c.1208G>A (p.Arg403Gln)
c.1826G>A (p.Arg609Gln)
c.605G>A (p.Arg202Gln)
c.92-3642G>A (n.92-3642G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380987G>ACA2189550COL6A3c.1207C>T (p.Arg403Ter)
c.1825C>T (p.Arg609Ter)
c.604C>T (p.Arg202Ter)
c.92-3643C>T (n.92-3643C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380987G>CCA351215717COL6A3c.1207C>G (p.Arg403Gly)
c.1825C>G (p.Arg609Gly)
c.604C>G (p.Arg202Gly)
c.92-3643C>G (n.92-3643C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.237380987G=CA1337627219COL6A3c.1207C= (p.Arg403=)
c.1825C= (p.Arg609=)
c.604C= (p.Arg202=)
c.92-3643C= (n.92-3643C=)
2g.237380987G>TCA431674709COL6A3c.1207C>A (p.Arg403=)
c.1825C>A (p.Arg609=)
c.604C>A (p.Arg202=)
c.92-3643C>A (n.92-3643C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237380988G>ACA431674710COL6A3c.1206C>T (p.Phe402=)
c.1824C>T (p.Phe608=)
c.603C>T (p.Phe201=)
c.92-3644C>T (n.92-3644C>T)
2g.237380988G>CCA351215721COL6A3c.1206C>G (p.Phe402Leu)
c.1824C>G (p.Phe608Leu)
c.603C>G (p.Phe201Leu)
c.92-3644C>G (n.92-3644C>G)
2g.237380988G>TCA351215723COL6A3c.1206C>A (p.Phe402Leu)
c.1824C>A (p.Phe608Leu)
c.603C>A (p.Phe201Leu)
c.92-3644C>A (n.92-3644C>A)
2g.237380989A>CCA351215725COL6A3c.1205T>G (p.Phe402Cys)
c.1823T>G (p.Phe608Cys)
c.602T>G (p.Phe201Cys)
c.92-3645T>G (n.92-3645T>G)
2g.237380989A>GCA351215727COL6A3c.1205T>C (p.Phe402Ser)
c.1823T>C (p.Phe608Ser)
c.602T>C (p.Phe201Ser)
c.92-3645T>C (n.92-3645T>C)
2g.237380989A>TCA351215730COL6A3c.1205T>A (p.Phe402Tyr)
c.1823T>A (p.Phe608Tyr)
c.602T>A (p.Phe201Tyr)
c.92-3645T>A (n.92-3645T>A)
2g.237380990A>CCA351215732COL6A3c.1204T>G (p.Phe402Val)
c.1822T>G (p.Phe608Val)
c.601T>G (p.Phe201Val)
c.92-3646T>G (n.92-3646T>G)
2g.237380990A>GCA351215735COL6A3c.1204T>C (p.Phe402Leu)
c.1822T>C (p.Phe608Leu)
c.601T>C (p.Phe201Leu)
c.92-3646T>C (n.92-3646T>C)
2g.237380990A>TCA351215736COL6A3c.1204T>A (p.Phe402Ile)
c.1822T>A (p.Phe608Ile)
c.601T>A (p.Phe201Ile)
c.92-3646T>A (n.92-3646T>A)
2g.237380991C>ACA351215738COL6A3c.1203G>T (p.Glu401Asp)
c.1821G>T (p.Glu607Asp)
c.600G>T (p.Glu200Asp)
c.92-3647G>T (n.92-3647G>T)
2g.237380991C=CA1337627220COL6A3c.1203G= (p.Glu401=)
c.1821G= (p.Glu607=)
c.600G= (p.Glu200=)
c.92-3647G= (n.92-3647G=)
2g.237380991C>GCA351215740COL6A3c.1203G>C (p.Glu401Asp)
c.1821G>C (p.Glu607Asp)
c.600G>C (p.Glu200Asp)
c.92-3647G>C (n.92-3647G>C)
 gnomAD v4
2g.237380991C>TCA431674711COL6A3c.1203G>A (p.Glu401=)
c.1821G>A (p.Glu607=)
c.600G>A (p.Glu200=)
c.92-3647G>A (n.92-3647G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.237380992T>ACA351215748COL6A3c.1202A>T (p.Glu401Val)
c.1820A>T (p.Glu607Val)
c.599A>T (p.Glu200Val)
c.92-3648A>T (n.92-3648A>T)
2g.237380992T>CCA351215746COL6A3c.1202A>G (p.Glu401Gly)
c.1820A>G (p.Glu607Gly)
c.599A>G (p.Glu200Gly)
c.92-3648A>G (n.92-3648A>G)
2g.237380992T>GCA351215743COL6A3c.1202A>C (p.Glu401Ala)
c.1820A>C (p.Glu607Ala)
c.599A>C (p.Glu200Ala)
c.92-3648A>C (n.92-3648A>C)
2g.237380993C>ACA351215751COL6A3c.1201G>T (p.Glu401Ter)
c.1819G>T (p.Glu607Ter)
c.598G>T (p.Glu200Ter)
c.92-3649G>T (n.92-3649G>T)
2g.237380993C>GCA351215754COL6A3c.1201G>C (p.Glu401Gln)
c.1819G>C (p.Glu607Gln)
c.598G>C (p.Glu200Gln)
c.92-3649G>C (n.92-3649G>C)
2g.237380993C>TCA351215752COL6A3c.1201G>A (p.Glu401Lys)
c.1819G>A (p.Glu607Lys)
c.598G>A (p.Glu200Lys)
c.92-3649G>A (n.92-3649G>A)
2g.237380994delCA2561902965COL6A3c.1200del (p.Glu401SerfsTer?)
c.1818del (p.Glu607SerfsTer?)
c.597del (p.Glu200SerfsTer?)
c.92-3650del (n.92-3650del)
2g.237380994A>CCA431674712COL6A3c.1200T>G (p.Ala400=)
c.1818T>G (p.Ala606=)
c.597T>G (p.Ala199=)
c.92-3650T>G (n.92-3650T>G)
2g.237380994A>GCA431674713COL6A3c.1200T>C (p.Ala400=)
c.1818T>C (p.Ala606=)
c.597T>C (p.Ala199=)
c.92-3650T>C (n.92-3650T>C)
2g.237380994A>TCA431674714COL6A3c.1200T>A (p.Ala400=)
c.1818T>A (p.Ala606=)
c.597T>A (p.Ala199=)
c.92-3650T>A (n.92-3650T>A)
2g.237380995G>ACA351216643COL6A3c.1199C>T (p.Ala400Val)
c.1817C>T (p.Ala606Val)
c.596C>T (p.Ala199Val)
c.92-3651C>T (n.92-3651C>T)
 COSMIC COSMIC
2g.237380995G>CCA351216646COL6A3c.1199C>G (p.Ala400Gly)
c.1817C>G (p.Ala606Gly)
c.596C>G (p.Ala199Gly)
c.92-3651C>G (n.92-3651C>G)
2g.237380995G>TCA351216649COL6A3c.1199C>A (p.Ala400Asp)
c.1817C>A (p.Ala606Asp)
c.596C>A (p.Ala199Asp)
c.92-3651C>A (n.92-3651C>A)
2g.237380996C>ACA351216651COL6A3c.1198G>T (p.Ala400Ser)
c.1816G>T (p.Ala606Ser)
c.595G>T (p.Ala199Ser)
c.92-3652G>T (n.92-3652G>T)
 dbSNP gnomAD v4
2g.237380996C=CA1337627221COL6A3c.1198G= (p.Ala400=)
c.1816G= (p.Ala606=)
c.595G= (p.Ala199=)
c.92-3652G= (n.92-3652G=)
2g.237380996C>GCA351216653COL6A3c.1198G>C (p.Ala400Pro)
c.1816G>C (p.Ala606Pro)
c.595G>C (p.Ala199Pro)
c.92-3652G>C (n.92-3652G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237380996C>TCA351216655COL6A3c.1198G>A (p.Ala400Thr)
c.1816G>A (p.Ala606Thr)
c.595G>A (p.Ala199Thr)
c.92-3652G>A (n.92-3652G>A)
2g.237380997T>ACA431712466COL6A3c.1197A>T (p.Pro399=)
c.1815A>T (p.Pro605=)
c.594A>T (p.Pro198=)
c.92-3653A>T (n.92-3653A>T)
2g.237380997T>CCA431712462COL6A3c.1197A>G (p.Pro399=)
c.1815A>G (p.Pro605=)
c.594A>G (p.Pro198=)
c.92-3653A>G (n.92-3653A>G)
2g.237380997T>GCA431712464COL6A3c.1197A>C (p.Pro399=)
c.1815A>C (p.Pro605=)
c.594A>C (p.Pro198=)
c.92-3653A>C (n.92-3653A>C)
2g.237380998G>ACA351216668COL6A3c.1196C>T (p.Pro399Leu)
c.1814C>T (p.Pro605Leu)
c.593C>T (p.Pro198Leu)
c.92-3654C>T (n.92-3654C>T)
2g.237380998G>CCA351216670COL6A3c.1196C>G (p.Pro399Arg)
c.1814C>G (p.Pro605Arg)
c.593C>G (p.Pro198Arg)
c.92-3654C>G (n.92-3654C>G)
2g.237380998G>TCA351216672COL6A3c.1196C>A (p.Pro399Gln)
c.1814C>A (p.Pro605Gln)
c.593C>A (p.Pro198Gln)
c.92-3654C>A (n.92-3654C>A)
2g.237380999G>ACA351216675COL6A3c.1195C>T (p.Pro399Ser)
c.1813C>T (p.Pro605Ser)
c.592C>T (p.Pro198Ser)
c.92-3655C>T (n.92-3655C>T)
2g.237380999G>CCA351216676COL6A3c.1195C>G (p.Pro399Ala)
c.1813C>G (p.Pro605Ala)
c.592C>G (p.Pro198Ala)
c.92-3655C>G (n.92-3655C>G)
2g.237380999G>TCA351216677COL6A3c.1195C>A (p.Pro399Thr)
c.1813C>A (p.Pro605Thr)
c.592C>A (p.Pro198Thr)
c.92-3655C>A (n.92-3655C>A)
2g.237381000G>ACA2189551COL6A3c.1194C>T (p.Ile398=)
c.1812C>T (p.Ile604=)
c.591C>T (p.Ile197=)
c.92-3656C>T (n.92-3656C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381000G>CCA351216683COL6A3c.1194C>G (p.Ile398Met)
c.1812C>G (p.Ile604Met)
c.591C>G (p.Ile197Met)
c.92-3656C>G (n.92-3656C>G)
2g.237381000G=CA1337627222COL6A3c.1194C= (p.Ile398=)
c.1812C= (p.Ile604=)
c.591C= (p.Ile197=)
c.92-3656C= (n.92-3656C=)
2g.237381000G>TCA431712468COL6A3c.1194C>A (p.Ile398=)
c.1812C>A (p.Ile604=)
c.591C>A (p.Ile197=)
c.92-3656C>A (n.92-3656C>A)
 gnomAD v4
2g.237381001A>CCA351216691COL6A3c.1193T>G (p.Ile398Ser)
c.1811T>G (p.Ile604Ser)
c.590T>G (p.Ile197Ser)
c.92-3657T>G (n.92-3657T>G)
2g.237381001A>GCA351216699COL6A3c.1193T>C (p.Ile398Thr)
c.1811T>C (p.Ile604Thr)
c.590T>C (p.Ile197Thr)
c.92-3657T>C (n.92-3657T>C)
2g.237381001A>TCA351216700COL6A3c.1193T>A (p.Ile398Asn)
c.1811T>A (p.Ile604Asn)
c.590T>A (p.Ile197Asn)
c.92-3657T>A (n.92-3657T>A)
2g.237381001_237381002insGCA2508298946COL6A3c.1192_1193insC (p.Ile398ThrfsTer4)
c.1810_1811insC (p.Ile604ThrfsTer4)
c.589_590insC (p.Ile197ThrfsTer4)
c.92-3658_92-3657insC (n.92-3658_92-3657insC)
2g.237381002T>ACA351216703COL6A3c.1192A>T (p.Ile398Phe)
c.1810A>T (p.Ile604Phe)
c.589A>T (p.Ile197Phe)
c.92-3658A>T (n.92-3658A>T)
2g.237381002T>CCA351216709COL6A3c.1192A>G (p.Ile398Val)
c.1810A>G (p.Ile604Val)
c.589A>G (p.Ile197Val)
c.92-3658A>G (n.92-3658A>G)
2g.237381002T>GCA351216712COL6A3c.1192A>C (p.Ile398Leu)
c.1810A>C (p.Ile604Leu)
c.589A>C (p.Ile197Leu)
c.92-3658A>C (n.92-3658A>C)
 dbSNP
2g.237381002T=CA1337627223COL6A3c.1192A= (p.Ile398=)
c.1810A= (p.Ile604=)
c.589A= (p.Ile197=)
c.92-3658A= (n.92-3658A=)
2g.237381003G>ACA431712472COL6A3c.1191C>T (p.Phe397=)
c.1809C>T (p.Phe603=)
c.588C>T (p.Phe196=)
c.92-3659C>T (n.92-3659C>T)
2g.237381003G>CCA351216714COL6A3c.1191C>G (p.Phe397Leu)
c.1809C>G (p.Phe603Leu)
c.588C>G (p.Phe196Leu)
c.92-3659C>G (n.92-3659C>G)
 gnomAD v4
2g.237381003G>TCA351216721COL6A3c.1191C>A (p.Phe397Leu)
c.1809C>A (p.Phe603Leu)
c.588C>A (p.Phe196Leu)
c.92-3659C>A (n.92-3659C>A)
2g.237381004A>CCA351216724COL6A3c.1190T>G (p.Phe397Cys)
c.1808T>G (p.Phe603Cys)
c.587T>G (p.Phe196Cys)
c.92-3660T>G (n.92-3660T>G)
2g.237381004A>GCA351216727COL6A3c.1190T>C (p.Phe397Ser)
c.1808T>C (p.Phe603Ser)
c.587T>C (p.Phe196Ser)
c.92-3660T>C (n.92-3660T>C)
2g.237381004A>TCA351216728COL6A3c.1190T>A (p.Phe397Tyr)
c.1808T>A (p.Phe603Tyr)
c.587T>A (p.Phe196Tyr)
c.92-3660T>A (n.92-3660T>A)
2g.237381005A>CCA351216730COL6A3c.1189T>G (p.Phe397Val)
c.1807T>G (p.Phe603Val)
c.586T>G (p.Phe196Val)
c.92-3661T>G (n.92-3661T>G)
2g.237381005A>GCA351216731COL6A3c.1189T>C (p.Phe397Leu)
c.1807T>C (p.Phe603Leu)
c.586T>C (p.Phe196Leu)
c.92-3661T>C (n.92-3661T>C)
2g.237381005A>TCA351216729COL6A3c.1189T>A (p.Phe397Ile)
c.1807T>A (p.Phe603Ile)
c.586T>A (p.Phe196Ile)
c.92-3661T>A (n.92-3661T>A)
2g.237381006C>ACA431712474COL6A3c.1188G>T (p.Val396=)
c.1806G>T (p.Val602=)
c.585G>T (p.Val195=)
c.92-3662G>T (n.92-3662G>T)
2g.237381006C>GCA431712476COL6A3c.1188G>C (p.Val396=)
c.1806G>C (p.Val602=)
c.585G>C (p.Val195=)
c.92-3662G>C (n.92-3662G>C)
2g.237381006C>TCA431712475COL6A3c.1188G>A (p.Val396=)
c.1806G>A (p.Val602=)
c.585G>A (p.Val195=)
c.92-3662G>A (n.92-3662G>A)
 gnomAD v4
2g.237381007A>CCA351216733COL6A3c.1187T>G (p.Val396Gly)
c.1805T>G (p.Val602Gly)
c.584T>G (p.Val195Gly)
c.92-3663T>G (n.92-3663T>G)
2g.237381007A>GCA351216735COL6A3c.1187T>C (p.Val396Ala)
c.1805T>C (p.Val602Ala)
c.584T>C (p.Val195Ala)
c.92-3663T>C (n.92-3663T>C)
 gnomAD v4
2g.237381007A>TCA351216736COL6A3c.1187T>A (p.Val396Glu)
c.1805T>A (p.Val602Glu)
c.584T>A (p.Val195Glu)
c.92-3663T>A (n.92-3663T>A)
2g.237381008C>ACA351216737COL6A3c.1186G>T (p.Val396Leu)
c.1804G>T (p.Val602Leu)
c.583G>T (p.Val195Leu)
c.92-3664G>T (n.92-3664G>T)
 ClinVar dbSNP gnomAD v4
2g.237381008C>GCA351216738COL6A3c.1186G>C (p.Val396Leu)
c.1804G>C (p.Val602Leu)
c.583G>C (p.Val195Leu)
c.92-3664G>C (n.92-3664G>C)
2g.237381008C>TCA351216739COL6A3c.1186G>A (p.Val396Met)
c.1804G>A (p.Val602Met)
c.583G>A (p.Val195Met)
c.92-3664G>A (n.92-3664G>A)
2g.237381009C>ACA431712478COL6A3c.1185G>T (p.Leu395=)
c.1803G>T (p.Leu601=)
c.582G>T (p.Leu194=)
c.92-3665G>T (n.92-3665G>T)
2g.237381009C>GCA431712479COL6A3c.1185G>C (p.Leu395=)
c.1803G>C (p.Leu601=)
c.582G>C (p.Leu194=)
c.92-3665G>C (n.92-3665G>C)
 gnomAD v4
2g.237381009C>TCA431712480COL6A3c.1185G>A (p.Leu395=)
c.1803G>A (p.Leu601=)
c.582G>A (p.Leu194=)
c.92-3665G>A (n.92-3665G>A)
2g.237381010A>CCA351216749COL6A3c.1184T>G (p.Leu395Arg)
c.1802T>G (p.Leu601Arg)
c.581T>G (p.Leu194Arg)
c.92-3666T>G (n.92-3666T>G)
2g.237381010A>GCA351216742COL6A3c.1184T>C (p.Leu395Pro)
c.1802T>C (p.Leu601Pro)
c.581T>C (p.Leu194Pro)
c.92-3666T>C (n.92-3666T>C)
2g.237381010A>TCA351216743COL6A3c.1184T>A (p.Leu395Gln)
c.1802T>A (p.Leu601Gln)
c.581T>A (p.Leu194Gln)
c.92-3666T>A (n.92-3666T>A)
2g.237381011G>ACA431712482COL6A3c.1183C>T (p.Leu395=)
c.1801C>T (p.Leu601=)
c.580C>T (p.Leu194=)
c.92-3667C>T (n.92-3667C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.237381011G>CCA351216752COL6A3c.1183C>G (p.Leu395Val)
c.1801C>G (p.Leu601Val)
c.580C>G (p.Leu194Val)
c.92-3667C>G (n.92-3667C>G)
2g.237381011G=CA1337627224COL6A3c.1183C= (p.Leu395=)
c.1801C= (p.Leu601=)
c.580C= (p.Leu194=)
c.92-3667C= (n.92-3667C=)
2g.237381011G>TCA351216755COL6A3c.1183C>A (p.Leu395Met)
c.1801C>A (p.Leu601Met)
c.580C>A (p.Leu194Met)
c.92-3667C>A (n.92-3667C>A)
 gnomAD v4
2g.237381012G>ACA431712484COL6A3c.1182C>T (p.Ser394=)
c.1800C>T (p.Ser600=)
c.579C>T (p.Ser193=)
c.92-3668C>T (n.92-3668C>T)
2g.237381012G>CCA431712485COL6A3c.1182C>G (p.Ser394=)
c.1800C>G (p.Ser600=)
c.579C>G (p.Ser193=)
c.92-3668C>G (n.92-3668C>G)
2g.237381012G>TCA431712486COL6A3c.1182C>A (p.Ser394=)
c.1800C>A (p.Ser600=)
c.579C>A (p.Ser193=)
c.92-3668C>A (n.92-3668C>A)
2g.237381013G>ACA351216757COL6A3c.1181C>T (p.Ser394Phe)
c.1799C>T (p.Ser600Phe)
c.578C>T (p.Ser193Phe)
c.92-3669C>T (n.92-3669C>T)
 COSMIC COSMIC
2g.237381013G>CCA351216758COL6A3c.1181C>G (p.Ser394Cys)
c.1799C>G (p.Ser600Cys)
c.578C>G (p.Ser193Cys)
c.92-3669C>G (n.92-3669C>G)
 gnomAD v4
2g.237381013G>TCA351216759COL6A3c.1181C>A (p.Ser394Tyr)
c.1799C>A (p.Ser600Tyr)
c.578C>A (p.Ser193Tyr)
c.92-3669C>A (n.92-3669C>A)
2g.237381014A>CCA351216760COL6A3c.1180T>G (p.Ser394Ala)
c.1798T>G (p.Ser600Ala)
c.577T>G (p.Ser193Ala)
c.92-3670T>G (n.92-3670T>G)
2g.237381014A>GCA351216764COL6A3c.1180T>C (p.Ser394Pro)
c.1798T>C (p.Ser600Pro)
c.577T>C (p.Ser193Pro)
c.92-3670T>C (n.92-3670T>C)
2g.237381014A>TCA351216763COL6A3c.1180T>A (p.Ser394Thr)
c.1798T>A (p.Ser600Thr)
c.577T>A (p.Ser193Thr)
c.92-3670T>A (n.92-3670T>A)
 gnomAD v4
2g.237381015G>ACA431712490COL6A3c.1179C>T (p.Ser393=)
c.1797C>T (p.Ser599=)
c.576C>T (p.Ser192=)
c.92-3671C>T (n.92-3671C>T)
 gnomAD v3 gnomAD v4
2g.237381015G>CCA431712491COL6A3c.1179C>G (p.Ser393=)
c.1797C>G (p.Ser599=)
c.576C>G (p.Ser192=)
c.92-3671C>G (n.92-3671C>G)
2g.237381015G>TCA431712492COL6A3c.1179C>A (p.Ser393=)
c.1797C>A (p.Ser599=)
c.576C>A (p.Ser192=)
c.92-3671C>A (n.92-3671C>A)
2g.237381016G>ACA2189552COL6A3c.1178C>T (p.Ser393Phe)
c.1796C>T (p.Ser599Phe)
c.575C>T (p.Ser192Phe)
c.92-3672C>T (n.92-3672C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381016G>CCA351216774COL6A3c.1178C>G (p.Ser393Cys)
c.1796C>G (p.Ser599Cys)
c.575C>G (p.Ser192Cys)
c.92-3672C>G (n.92-3672C>G)
2g.237381016G=CA1337627225COL6A3c.1178C= (p.Ser393=)
c.1796C= (p.Ser599=)
c.575C= (p.Ser192=)
c.92-3672C= (n.92-3672C=)
2g.237381016G>TCA351216777COL6A3c.1178C>A (p.Ser393Tyr)
c.1796C>A (p.Ser599Tyr)
c.575C>A (p.Ser192Tyr)
c.92-3672C>A (n.92-3672C>A)
2g.237381016_237381017delinsATCA10605372COL6A3c.1177_1178delinsAT (p.Ser393Ile)
c.1795_1796delinsAT (p.Ser599Ile)
c.574_575delinsAT (p.Ser192Ile)
c.92-3673_92-3672delinsAT (n.92-3673_92-3672delinsAT)
 ClinVar dbSNP
2g.237381016_237381017delinsGACA1337627226COL6A3c.1177_1178delinsTC (p.Ser393=)
c.1795_1796delinsTC (p.Ser599=)
c.574_575delinsTC (p.Ser192=)
c.92-3673_92-3672delinsTC (n.92-3673_92-3672delinsTC)
2g.237381017A=CA1337627227COL6A3c.1177T= (p.Ser393=)
c.1795T= (p.Ser599=)
c.574T= (p.Ser192=)
c.92-3673T= (n.92-3673T=)
2g.237381017A>CCA351216785COL6A3c.1177T>G (p.Ser393Ala)
c.1795T>G (p.Ser599Ala)
c.574T>G (p.Ser192Ala)
c.92-3673T>G (n.92-3673T>G)
2g.237381017A>GCA351216792COL6A3c.1177T>C (p.Ser393Pro)
c.1795T>C (p.Ser599Pro)
c.574T>C (p.Ser192Pro)
c.92-3673T>C (n.92-3673T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237381017A>TCA2189553COL6A3c.1177T>A (p.Ser393Thr)
c.1795T>A (p.Ser599Thr)
c.574T>A (p.Ser192Thr)
c.92-3673T>A (n.92-3673T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381018G>ACA431712494COL6A3c.1176C>T (p.Asp392=)
c.1794C>T (p.Asp598=)
c.573C>T (p.Asp191=)
c.92-3674C>T (n.92-3674C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.237381018G>CCA351216799COL6A3c.1176C>G (p.Asp392Glu)
c.1794C>G (p.Asp598Glu)
c.573C>G (p.Asp191Glu)
c.92-3674C>G (n.92-3674C>G)
2g.237381018G=CA1337627228COL6A3c.1176C= (p.Asp392=)
c.1794C= (p.Asp598=)
c.573C= (p.Asp191=)
c.92-3674C= (n.92-3674C=)
2g.237381018G>TCA351216801COL6A3c.1176C>A (p.Asp392Glu)
c.1794C>A (p.Asp598Glu)
c.573C>A (p.Asp191Glu)
c.92-3674C>A (n.92-3674C>A)
2g.237381019T>ACA351216804COL6A3c.1175A>T (p.Asp392Val)
c.1793A>T (p.Asp598Val)
c.572A>T (p.Asp191Val)
c.92-3675A>T (n.92-3675A>T)
2g.237381019T>CCA351216805COL6A3c.1175A>G (p.Asp392Gly)
c.1793A>G (p.Asp598Gly)
c.572A>G (p.Asp191Gly)
c.92-3675A>G (n.92-3675A>G)
2g.237381019T>GCA351216807COL6A3c.1175A>C (p.Asp392Ala)
c.1793A>C (p.Asp598Ala)
c.572A>C (p.Asp191Ala)
c.92-3675A>C (n.92-3675A>C)
 gnomAD v4
2g.237381020C>ACA351216809COL6A3c.1174G>T (p.Asp392Tyr)
c.1792G>T (p.Asp598Tyr)
c.571G>T (p.Asp191Tyr)
c.92-3676G>T (n.92-3676G>T)
2g.237381020C=CA1337627229COL6A3c.1174G= (p.Asp392=)
c.1792G= (p.Asp598=)
c.571G= (p.Asp191=)
c.92-3676G= (n.92-3676G=)
2g.237381020C>GCA351216812COL6A3c.1174G>C (p.Asp392His)
c.1792G>C (p.Asp598His)
c.571G>C (p.Asp191His)
c.92-3676G>C (n.92-3676G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.237381020C>TCA2189554COL6A3c.1174G>A (p.Asp392Asn)
c.1792G>A (p.Asp598Asn)
c.571G>A (p.Asp191Asn)
c.92-3676G>A (n.92-3676G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237381021G>ACA2189555COL6A3c.1173C>T (p.Phe391=)
c.1791C>T (p.Phe597=)
c.570C>T (p.Phe190=)
c.92-3677C>T (n.92-3677C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381021G>CCA351216814COL6A3c.1173C>G (p.Phe391Leu)
c.1791C>G (p.Phe597Leu)
c.570C>G (p.Phe190Leu)
c.92-3677C>G (n.92-3677C>G)
2g.237381021G=CA1337627230COL6A3c.1173C= (p.Phe391=)
c.1791C= (p.Phe597=)
c.570C= (p.Phe190=)
c.92-3677C= (n.92-3677C=)
2g.237381021G>TCA2189556COL6A3c.1173C>A (p.Phe391Leu)
c.1791C>A (p.Phe597Leu)
c.570C>A (p.Phe190Leu)
c.92-3677C>A (n.92-3677C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381022A>CCA351216818COL6A3c.1172T>G (p.Phe391Cys)
c.1790T>G (p.Phe597Cys)
c.569T>G (p.Phe190Cys)
c.92-3678T>G (n.92-3678T>G)
2g.237381022A>GCA351216821COL6A3c.1172T>C (p.Phe391Ser)
c.1790T>C (p.Phe597Ser)
c.569T>C (p.Phe190Ser)
c.92-3678T>C (n.92-3678T>C)
2g.237381022A>TCA351216823COL6A3c.1172T>A (p.Phe391Tyr)
c.1790T>A (p.Phe597Tyr)
c.569T>A (p.Phe190Tyr)
c.92-3678T>A (n.92-3678T>A)
2g.237381023A>CCA351216825COL6A3c.1171T>G (p.Phe391Val)
c.1789T>G (p.Phe597Val)
c.568T>G (p.Phe190Val)
c.92-3679T>G (n.92-3679T>G)
2g.237381023A>GCA351216827COL6A3c.1171T>C (p.Phe391Leu)
c.1789T>C (p.Phe597Leu)
c.568T>C (p.Phe190Leu)
c.92-3679T>C (n.92-3679T>C)
2g.237381023A>TCA351216828COL6A3c.1171T>A (p.Phe391Ile)
c.1789T>A (p.Phe597Ile)
c.568T>A (p.Phe190Ile)
c.92-3679T>A (n.92-3679T>A)
2g.237381024A>CCA431712499COL6A3c.1170T>G (p.Ala390=)
c.1788T>G (p.Ala596=)
c.567T>G (p.Ala189=)
c.92-3680T>G (n.92-3680T>G)
2g.237381024A>GCA431712500COL6A3c.1170T>C (p.Ala390=)
c.1788T>C (p.Ala596=)
c.567T>C (p.Ala189=)
c.92-3680T>C (n.92-3680T>C)
2g.237381024A>TCA431712501COL6A3c.1170T>A (p.Ala390=)
c.1788T>A (p.Ala596=)
c.567T>A (p.Ala189=)
c.92-3680T>A (n.92-3680T>A)
2g.237381025G>ACA351216830COL6A3c.1169C>T (p.Ala390Val)
c.1787C>T (p.Ala596Val)
c.566C>T (p.Ala189Val)
c.92-3681C>T (n.92-3681C>T)
 gnomAD v4
2g.237381025G>CCA351216831COL6A3c.1169C>G (p.Ala390Gly)
c.1787C>G (p.Ala596Gly)
c.566C>G (p.Ala189Gly)
c.92-3681C>G (n.92-3681C>G)
2g.237381025G>TCA351216832COL6A3c.1169C>A (p.Ala390Asp)
c.1787C>A (p.Ala596Asp)
c.566C>A (p.Ala189Asp)
c.92-3681C>A (n.92-3681C>A)
2g.237381026C>ACA147922COL6A3c.1168G>T (p.Ala390Ser)
c.1786G>T (p.Ala596Ser)
c.565G>T (p.Ala189Ser)
c.92-3682G>T (n.92-3682G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381026C=CA1337627231COL6A3c.1168G= (p.Ala390=)
c.1786G= (p.Ala596=)
c.565G= (p.Ala189=)
c.92-3682G= (n.92-3682G=)
2g.237381026C>GCA351216834COL6A3c.1168G>C (p.Ala390Pro)
c.1786G>C (p.Ala596Pro)
c.565G>C (p.Ala189Pro)
c.92-3682G>C (n.92-3682G>C)
2g.237381026C>TCA2189557COL6A3c.1168G>A (p.Ala390Thr)
c.1786G>A (p.Ala596Thr)
c.565G>A (p.Ala189Thr)
c.92-3682G>A (n.92-3682G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.237381027G>ACA2189559COL6A3c.1167C>T (p.Ile389=)
c.1785C>T (p.Ile595=)
c.564C>T (p.Ile188=)
c.92-3683C>T (n.92-3683C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381027G>CCA2189558COL6A3c.1167C>G (p.Ile389Met)
c.1785C>G (p.Ile595Met)
c.564C>G (p.Ile188Met)
c.92-3683C>G (n.92-3683C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237381027G=CA1337627232COL6A3c.1167C= (p.Ile389=)
c.1785C= (p.Ile595=)
c.564C= (p.Ile188=)
c.92-3683C= (n.92-3683C=)
2g.237381027G>TCA431712503COL6A3c.1167C>A (p.Ile389=)
c.1785C>A (p.Ile595=)
c.564C>A (p.Ile188=)
c.92-3683C>A (n.92-3683C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.237381028A>CCA351216841COL6A3c.1166T>G (p.Ile389Ser)
c.1784T>G (p.Ile595Ser)
c.563T>G (p.Ile188Ser)
c.92-3684T>G (n.92-3684T>G)
2g.237381028A>GCA351216843COL6A3c.1166T>C (p.Ile389Thr)
c.1784T>C (p.Ile595Thr)
c.563T>C (p.Ile188Thr)
c.92-3684T>C (n.92-3684T>C)
2g.237381028A>TCA351216845COL6A3c.1166T>A (p.Ile389Asn)
c.1784T>A (p.Ile595Asn)
c.563T>A (p.Ile188Asn)
c.92-3684T>A (n.92-3684T>A)
2g.237381029T>ACA351216847COL6A3c.1165A>T (p.Ile389Phe)
c.1783A>T (p.Ile595Phe)
c.562A>T (p.Ile188Phe)
c.92-3685A>T (n.92-3685A>T)
2g.237381029T>CCA351216848COL6A3c.1165A>G (p.Ile389Val)
c.1783A>G (p.Ile595Val)
c.562A>G (p.Ile188Val)
c.92-3685A>G (n.92-3685A>G)
 gnomAD v4
2g.237381029T>GCA351216850COL6A3c.1165A>C (p.Ile389Leu)
c.1783A>C (p.Ile595Leu)
c.562A>C (p.Ile188Leu)
c.92-3685A>C (n.92-3685A>C)
2g.237381030C>ACA351216853COL6A3c.1164G>T (p.Glu388Asp)
c.1782G>T (p.Glu594Asp)
c.561G>T (p.Glu187Asp)
c.92-3686G>T (n.92-3686G>T)
2g.237381030C=CA1337627233COL6A3c.1164G= (p.Glu388=)
c.1782G= (p.Glu594=)
c.561G= (p.Glu187=)
c.92-3686G= (n.92-3686G=)
2g.237381030C>GCA351216856COL6A3c.1164G>C (p.Glu388Asp)
c.1782G>C (p.Glu594Asp)
c.561G>C (p.Glu187Asp)
c.92-3686G>C (n.92-3686G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237381030C>TCA431712506COL6A3c.1164G>A (p.Glu388=)
c.1782G>A (p.Glu594=)
c.561G>A (p.Glu187=)
c.92-3686G>A (n.92-3686G>A)
 gnomAD v4

Number of alleles fetched