Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.134200665A>CCA358375249PABPC4Lc.355T>G (p.Ser119Ala)
c.529T>G (p.Ser177Ala)
n.894T>G
n.889T>G
4g.134200665A>GCA358375250PABPC4Lc.355T>C (p.Ser119Pro)
c.529T>C (p.Ser177Pro)
n.894T>C
n.889T>C
 gnomAD v4
4g.134200665A>TCA358375251PABPC4Lc.355T>A (p.Ser119Thr)
c.529T>A (p.Ser177Thr)
n.894T>A
n.889T>A
4g.134200669delCA2604810259PABPC4Lc.355del (p.Ser119GlnfsTer11)
c.529del (p.Ser177GlnfsTer11)
n.894del
n.889del
 dbSNP gnomAD v3 gnomAD v4
4g.134200666A>CCA358375252PABPC4Lc.354T>G (p.Phe118Leu)
c.528T>G (p.Phe176Leu)
n.893T>G
n.888T>G
4g.134200666A>GCA441361020PABPC4Lc.354T>C (p.Phe118=)
c.528T>C (p.Phe176=)
n.893T>C
n.888T>C
4g.134200666A>TCA358375253PABPC4Lc.354T>A (p.Phe118Leu)
c.528T>A (p.Phe176Leu)
n.893T>A
n.888T>A
4g.134200667A>CCA358375254PABPC4Lc.353T>G (p.Phe118Cys)
c.527T>G (p.Phe176Cys)
n.892T>G
n.887T>G
4g.134200667A>GCA358375255PABPC4Lc.353T>C (p.Phe118Ser)
c.527T>C (p.Phe176Ser)
n.892T>C
n.887T>C
4g.134200667A>TCA358375256PABPC4Lc.353T>A (p.Phe118Tyr)
c.527T>A (p.Phe176Tyr)
n.892T>A
n.887T>A
4g.134200668A>CCA358375258PABPC4Lc.352T>G (p.Phe118Val)
c.526T>G (p.Phe176Val)
n.891T>G
n.886T>G
4g.134200668A>GCA358375259PABPC4Lc.352T>C (p.Phe118Leu)
c.526T>C (p.Phe176Leu)
n.891T>C
n.886T>C
4g.134200668A>TCA358375257PABPC4Lc.352T>A (p.Phe118Ile)
c.526T>A (p.Phe176Ile)
n.891T>A
n.886T>A
4g.134200669A=CA1495814876PABPC4Lc.351T= (p.His117=)
c.525T= (p.His175=)
n.890T=
n.885T=
4g.134200669A>CCA358375261PABPC4Lc.351T>G (p.His117Gln)
c.525T>G (p.His175Gln)
n.890T>G
n.885T>G
4g.134200669A>GCA106325802PABPC4Lc.351T>C (p.His117=)
c.525T>C (p.His175=)
n.890T>C
n.885T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200669A>TCA358375260PABPC4Lc.351T>A (p.His117Gln)
c.525T>A (p.His175Gln)
n.890T>A
n.885T>A
4g.134200670T>ACA358375262PABPC4Lc.350A>T (p.His117Leu)
c.524A>T (p.His175Leu)
n.889A>T
n.884A>T
4g.134200670T>CCA358375263PABPC4Lc.350A>G (p.His117Arg)
c.524A>G (p.His175Arg)
n.889A>G
n.884A>G
 gnomAD v4
4g.134200670T>GCA358375264PABPC4Lc.350A>C (p.His117Pro)
c.524A>C (p.His175Pro)
n.889A>C
n.884A>C
4g.134200671G>ACA358375265PABPC4Lc.349C>T (p.His117Tyr)
c.523C>T (p.His175Tyr)
n.888C>T
n.883C>T
 dbSNP gnomAD v3 gnomAD v4
4g.134200671G>CCA358375266PABPC4Lc.349C>G (p.His117Asp)
c.523C>G (p.His175Asp)
n.888C>G
n.883C>G
4g.134200671G=CA1495814879PABPC4Lc.349C= (p.His117=)
c.523C= (p.His175=)
n.888C=
n.883C=
4g.134200671G>TCA358375267PABPC4Lc.349C>A (p.His117Asn)
c.523C>A (p.His175Asn)
n.888C>A
n.883C>A
 gnomAD v4
4g.134200672T>ACA358375268PABPC4Lc.348A>T (p.Glu116Asp)
c.522A>T (p.Glu174Asp)
n.887A>T
n.882A>T
4g.134200672T>CCA441361021PABPC4Lc.348A>G (p.Glu116=)
c.522A>G (p.Glu174=)
n.887A>G
n.882A>G
4g.134200672T>GCA358375269PABPC4Lc.348A>C (p.Glu116Asp)
c.522A>C (p.Glu174Asp)
n.887A>C
n.882A>C
4g.134200673T>ACA358375270PABPC4Lc.347A>T (p.Glu116Val)
c.521A>T (p.Glu174Val)
n.886A>T
n.881A>T
4g.134200673T>CCA358375271PABPC4Lc.347A>G (p.Glu116Gly)
c.521A>G (p.Glu174Gly)
n.886A>G
n.881A>G
4g.134200673T>GCA358375272PABPC4Lc.347A>C (p.Glu116Ala)
c.521A>C (p.Glu174Ala)
n.886A>C
n.881A>C
4g.134200674C>ACA358375275PABPC4Lc.346G>T (p.Glu116Ter)
c.520G>T (p.Glu174Ter)
n.885G>T
n.880G>T
4g.134200674C=CA1495814882PABPC4Lc.346G= (p.Glu116=)
c.520G= (p.Glu174=)
n.885G=
n.880G=
4g.134200674C>GCA358375273PABPC4Lc.346G>C (p.Glu116Gln)
c.520G>C (p.Glu174Gln)
n.885G>C
n.880G>C
4g.134200674C>TCA358375274PABPC4Lc.346G>A (p.Glu116Lys)
c.520G>A (p.Glu174Lys)
n.885G>A
n.880G>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200675A=CA1495814884PABPC4Lc.345T= (p.Tyr115=)
c.519T= (p.Tyr173=)
n.884T=
n.879T=
4g.134200675A>CCA358375276PABPC4Lc.345T>G (p.Tyr115Ter)
c.519T>G (p.Tyr173Ter)
n.884T>G
n.879T>G
4g.134200675A>GCA441361022PABPC4Lc.345T>C (p.Tyr115=)
c.519T>C (p.Tyr173=)
n.884T>C
n.879T>C
 dbSNP
4g.134200675A>TCA358375277PABPC4Lc.345T>A (p.Tyr115Ter)
c.519T>A (p.Tyr173Ter)
n.884T>A
n.879T>A
4g.134200676T>ACA358375278PABPC4Lc.344A>T (p.Tyr115Phe)
c.518A>T (p.Tyr173Phe)
n.883A>T
n.878A>T
4g.134200676T>CCA358375279PABPC4Lc.344A>G (p.Tyr115Cys)
c.518A>G (p.Tyr173Cys)
n.883A>G
n.878A>G
 gnomAD v4
4g.134200676T>GCA358375280PABPC4Lc.344A>C (p.Tyr115Ser)
c.518A>C (p.Tyr173Ser)
n.883A>C
n.878A>C
4g.134200677A>CCA358375281PABPC4Lc.343T>G (p.Tyr115Asp)
c.517T>G (p.Tyr173Asp)
n.882T>G
n.877T>G
 gnomAD v4
4g.134200677A>GCA358375282PABPC4Lc.343T>C (p.Tyr115His)
c.517T>C (p.Tyr173His)
n.882T>C
n.877T>C
4g.134200677A>TCA358375283PABPC4Lc.343T>A (p.Tyr115Asn)
c.517T>A (p.Tyr173Asn)
n.882T>A
n.877T>A
4g.134200678A>CCA441361025PABPC4Lc.342T>G (p.Leu114=)
c.516T>G (p.Leu172=)
n.881T>G
n.876T>G
4g.134200678A>GCA441361024PABPC4Lc.342T>C (p.Leu114=)
c.516T>C (p.Leu172=)
n.881T>C
n.876T>C
 gnomAD v4
4g.134200678A>TCA441361023PABPC4Lc.342T>A (p.Leu114=)
c.516T>A (p.Leu172=)
n.881T>A
n.876T>A
4g.134200679A>CCA358375284PABPC4Lc.341T>G (p.Leu114Arg)
c.515T>G (p.Leu172Arg)
n.880T>G
n.875T>G
4g.134200679A>GCA358375285PABPC4Lc.341T>C (p.Leu114Pro)
c.515T>C (p.Leu172Pro)
n.880T>C
n.875T>C
4g.134200679A>TCA358375286PABPC4Lc.341T>A (p.Leu114His)
c.515T>A (p.Leu172His)
n.880T>A
n.875T>A
4g.134200680G>ACA358375288PABPC4Lc.340C>T (p.Leu114Phe)
c.514C>T (p.Leu172Phe)
n.879C>T
n.874C>T
4g.134200680G>CCA358375289PABPC4Lc.340C>G (p.Leu114Val)
c.514C>G (p.Leu172Val)
n.879C>G
n.874C>G
 gnomAD v4
4g.134200680G>TCA358375287PABPC4Lc.340C>A (p.Leu114Ile)
c.514C>A (p.Leu172Ile)
n.879C>A
n.874C>A
4g.134200681G>ACA441361026PABPC4Lc.339C>T (p.Thr113=)
c.513C>T (p.Thr171=)
n.878C>T
n.873C>T
 gnomAD v4
4g.134200681G>CCA106325804PABPC4Lc.339C>G (p.Thr113=)
c.513C>G (p.Thr171=)
n.878C>G
n.873C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200681G=CA1495814887PABPC4Lc.339C= (p.Thr113=)
c.513C= (p.Thr171=)
n.878C=
n.873C=
4g.134200681G>TCA106325806PABPC4Lc.339C>A (p.Thr113=)
c.513C>A (p.Thr171=)
n.878C>A
n.873C>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200682G>ACA358375290PABPC4Lc.338C>T (p.Thr113Ile)
c.512C>T (p.Thr171Ile)
n.877C>T
n.872C>T
 gnomAD v4
4g.134200682G>CCA358375291PABPC4Lc.338C>G (p.Thr113Ser)
c.512C>G (p.Thr171Ser)
n.877C>G
n.872C>G
4g.134200682G>TCA358375292PABPC4Lc.338C>A (p.Thr113Asn)
c.512C>A (p.Thr171Asn)
n.877C>A
n.872C>A
4g.134200683T>ACA358375293PABPC4Lc.337A>T (p.Thr113Ser)
c.511A>T (p.Thr171Ser)
n.876A>T
n.871A>T
 gnomAD v4
4g.134200683T>CCA358375294PABPC4Lc.337A>G (p.Thr113Ala)
c.511A>G (p.Thr171Ala)
n.876A>G
n.871A>G
4g.134200683T>GCA358375295PABPC4Lc.337A>C (p.Thr113Pro)
c.511A>C (p.Thr171Pro)
n.876A>C
n.871A>C
4g.134200686dupCA645514504PABPC4Lc.337dup (p.Thr113AsnfsTer4)
c.511dup (p.Thr171AsnfsTer4)
n.876dup
n.871dup
 COSMIC COSMIC
4g.134200684T>ACA358375296PABPC4Lc.336A>T (p.Lys112Asn)
c.510A>T (p.Lys170Asn)
n.875A>T
n.870A>T
4g.134200684T>CCA441361027PABPC4Lc.336A>G (p.Lys112=)
c.510A>G (p.Lys170=)
n.875A>G
n.870A>G
4g.134200684T>GCA358375297PABPC4Lc.336A>C (p.Lys112Asn)
c.510A>C (p.Lys170Asn)
n.875A>C
n.870A>C
4g.134200685T>ACA358375298PABPC4Lc.335A>T (p.Lys112Ile)
c.509A>T (p.Lys170Ile)
n.874A>T
n.869A>T
4g.134200685T>CCA358375299PABPC4Lc.335A>G (p.Lys112Arg)
c.509A>G (p.Lys170Arg)
n.874A>G
n.869A>G
 gnomAD v4
4g.134200685T>GCA358375300PABPC4Lc.335A>C (p.Lys112Thr)
c.509A>C (p.Lys170Thr)
n.874A>C
n.869A>C
4g.134200686T>ACA358375302PABPC4Lc.334A>T (p.Lys112Ter)
c.508A>T (p.Lys170Ter)
n.873A>T
n.868A>T
4g.134200686T>CCA358375303PABPC4Lc.334A>G (p.Lys112Glu)
c.508A>G (p.Lys170Glu)
n.873A>G
n.868A>G
4g.134200686T>GCA358375301PABPC4Lc.334A>C (p.Lys112Gln)
c.508A>C (p.Lys170Gln)
n.873A>C
n.868A>C
4g.134200687G>ACA106325808PABPC4Lc.333C>T (p.Asn111=)
c.507C>T (p.Asn169=)
n.872C>T
n.867C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200687G>CCA358375304PABPC4Lc.333C>G (p.Asn111Lys)
c.507C>G (p.Asn169Lys)
n.872C>G
n.867C>G
4g.134200687G=CA1495814890PABPC4Lc.333C= (p.Asn111=)
c.507C= (p.Asn169=)
n.872C=
n.867C=
4g.134200687G>TCA358375305PABPC4Lc.333C>A (p.Asn111Lys)
c.507C>A (p.Asn169Lys)
n.872C>A
n.867C>A
4g.134200688T>ACA358375306PABPC4Lc.332A>T (p.Asn111Ile)
c.506A>T (p.Asn169Ile)
n.871A>T
n.866A>T
4g.134200688T>CCA358375307PABPC4Lc.332A>G (p.Asn111Ser)
c.506A>G (p.Asn169Ser)
n.871A>G
n.866A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200688T>GCA358375308PABPC4Lc.332A>C (p.Asn111Thr)
c.506A>C (p.Asn169Thr)
n.871A>C
n.866A>C
4g.134200688T=CA1495814895PABPC4Lc.332A= (p.Asn111=)
c.506A= (p.Asn169=)
n.871A=
n.866A=
4g.134200689T>ACA358375311PABPC4Lc.331A>T (p.Asn111Tyr)
c.505A>T (p.Asn169Tyr)
n.870A>T
n.865A>T
4g.134200689T>CCA358375309PABPC4Lc.331A>G (p.Asn111Asp)
c.505A>G (p.Asn169Asp)
n.870A>G
n.865A>G
4g.134200689T>GCA358375310PABPC4Lc.331A>C (p.Asn111His)
c.505A>C (p.Asn169His)
n.870A>C
n.865A>C
4g.134200690A>CCA358375312PABPC4Lc.330T>G (p.Asp110Glu)
c.504T>G (p.Asp168Glu)
n.869T>G
n.864T>G
4g.134200690A>GCA441361028PABPC4Lc.330T>C (p.Asp110=)
c.504T>C (p.Asp168=)
n.869T>C
n.864T>C
4g.134200690A>TCA358375313PABPC4Lc.330T>A (p.Asp110Glu)
c.504T>A (p.Asp168Glu)
n.869T>A
n.864T>A
4g.134200691T>ACA358375314PABPC4Lc.329A>T (p.Asp110Val)
c.503A>T (p.Asp168Val)
n.868A>T
n.863A>T
4g.134200691T>CCA358375315PABPC4Lc.329A>G (p.Asp110Gly)
c.503A>G (p.Asp168Gly)
n.868A>G
n.863A>G
4g.134200691T>GCA358375316PABPC4Lc.329A>C (p.Asp110Ala)
c.503A>C (p.Asp168Ala)
n.868A>C
n.863A>C
4g.134200692C>ACA3081074PABPC4Lc.328G>T (p.Asp110Tyr)
c.502G>T (p.Asp168Tyr)
n.867G>T
n.862G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200692C=CA1495814899PABPC4Lc.328G= (p.Asp110=)
c.502G= (p.Asp168=)
n.867G=
n.862G=
4g.134200692C>GCA358375318PABPC4Lc.328G>C (p.Asp110His)
c.502G>C (p.Asp168His)
n.867G>C
n.862G>C
 gnomAD v4
4g.134200692C>TCA358375317PABPC4Lc.328G>A (p.Asp110Asn)
c.502G>A (p.Asp168Asn)
n.867G>A
n.862G>A
 dbSNP gnomAD v4
4g.134200693G>ACA441361029PABPC4Lc.327C>T (p.Ile109=)
c.501C>T (p.Ile167=)
n.866C>T
n.861C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200693G>CCA358375319PABPC4Lc.327C>G (p.Ile109Met)
c.501C>G (p.Ile167Met)
n.866C>G
n.861C>G
 gnomAD v4
4g.134200693G=CA1495814906PABPC4Lc.327C= (p.Ile109=)
c.501C= (p.Ile167=)
n.866C=
n.861C=
4g.134200693G>TCA441361030PABPC4Lc.327C>A (p.Ile109=)
c.501C>A (p.Ile167=)
n.866C>A
n.861C>A
 dbSNP gnomAD v4
4g.134200694A>CCA358375322PABPC4Lc.326T>G (p.Ile109Ser)
c.500T>G (p.Ile167Ser)
n.865T>G
n.860T>G
4g.134200694A>GCA358375320PABPC4Lc.326T>C (p.Ile109Thr)
c.500T>C (p.Ile167Thr)
n.865T>C
n.860T>C
4g.134200694A>TCA358375321PABPC4Lc.326T>A (p.Ile109Asn)
c.500T>A (p.Ile167Asn)
n.865T>A
n.860T>A
4g.134200695T>ACA358375323PABPC4Lc.325A>T (p.Ile109Phe)
c.499A>T (p.Ile167Phe)
n.864A>T
n.859A>T
4g.134200695T>CCA106325811PABPC4Lc.325A>G (p.Ile109Val)
c.499A>G (p.Ile167Val)
n.864A>G
n.859A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200695T>GCA358375324PABPC4Lc.325A>C (p.Ile109Leu)
c.499A>C (p.Ile167Leu)
n.864A>C
n.859A>C
4g.134200695T=CA1495814912PABPC4Lc.325A= (p.Ile109=)
c.499A= (p.Ile167=)
n.864A=
n.859A=
4g.134200696A>CCA441362009PABPC4Lc.324T>G (p.Ser108=)
c.498T>G (p.Ser166=)
n.863T>G
n.858T>G
4g.134200696A>GCA441362010PABPC4Lc.324T>C (p.Ser108=)
c.498T>C (p.Ser166=)
n.863T>C
n.858T>C
4g.134200696A>TCA441362011PABPC4Lc.324T>A (p.Ser108=)
c.498T>A (p.Ser166=)
n.863T>A
n.858T>A
4g.134200697G>ACA358375325PABPC4Lc.323C>T (p.Ser108Phe)
c.497C>T (p.Ser166Phe)
n.862C>T
n.857C>T
 dbSNP gnomAD v3 gnomAD v4
4g.134200697G>CCA358375326PABPC4Lc.323C>G (p.Ser108Cys)
c.497C>G (p.Ser166Cys)
n.862C>G
n.857C>G
4g.134200697G=CA1495814916PABPC4Lc.323C= (p.Ser108=)
c.497C= (p.Ser166=)
n.862C=
n.857C=
4g.134200697G>TCA358375327PABPC4Lc.323C>A (p.Ser108Tyr)
c.497C>A (p.Ser166Tyr)
n.862C>A
n.857C>A
4g.134200698A>CCA358375328PABPC4Lc.322T>G (p.Ser108Ala)
c.496T>G (p.Ser166Ala)
n.861T>G
n.856T>G
4g.134200698A>GCA358375329PABPC4Lc.322T>C (p.Ser108Pro)
c.496T>C (p.Ser166Pro)
n.861T>C
n.856T>C
4g.134200698A>TCA358375330PABPC4Lc.322T>A (p.Ser108Thr)
c.496T>A (p.Ser166Thr)
n.861T>A
n.856T>A
4g.134200699T>ACA358375331PABPC4Lc.321A>T (p.Lys107Asn)
c.495A>T (p.Lys165Asn)
n.860A>T
n.855A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200699T>CCA441362013PABPC4Lc.321A>G (p.Lys107=)
c.495A>G (p.Lys165=)
n.860A>G
n.855A>G
4g.134200699T>GCA358375332PABPC4Lc.321A>C (p.Lys107Asn)
c.495A>C (p.Lys165Asn)
n.860A>C
n.855A>C
 gnomAD v4
4g.134200699T=CA1495814920PABPC4Lc.321A= (p.Lys107=)
c.495A= (p.Lys165=)
n.860A=
n.855A=
4g.134200700T>ACA358375333PABPC4Lc.320A>T (p.Lys107Ile)
c.494A>T (p.Lys165Ile)
n.859A>T
n.854A>T
4g.134200700T>CCA358375335PABPC4Lc.320A>G (p.Lys107Arg)
c.494A>G (p.Lys165Arg)
n.859A>G
n.854A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200700T>GCA358375334PABPC4Lc.320A>C (p.Lys107Thr)
c.494A>C (p.Lys165Thr)
n.859A>C
n.854A>C
4g.134200700T=CA1495814924PABPC4Lc.320A= (p.Lys107=)
c.494A= (p.Lys165=)
n.859A=
n.854A=
4g.134200701T>ACA358375336PABPC4Lc.319A>T (p.Lys107Ter)
c.493A>T (p.Lys165Ter)
n.858A>T
n.853A>T
4g.134200701T>CCA358375337PABPC4Lc.319A>G (p.Lys107Glu)
c.493A>G (p.Lys165Glu)
n.858A>G
n.853A>G
4g.134200701T>GCA358375338PABPC4Lc.319A>C (p.Lys107Gln)
c.493A>C (p.Lys165Gln)
n.858A>C
n.853A>C
 dbSNP gnomAD v3 gnomAD v4
4g.134200701T=CA1495814928PABPC4Lc.319A= (p.Lys107=)
c.493A= (p.Lys165=)
n.858A=
n.853A=
4g.134200702G>ACA441362014PABPC4Lc.318C>T (p.Asp106=)
c.492C>T (p.Asp164=)
n.857C>T
n.852C>T
4g.134200702G>CCA358375339PABPC4Lc.318C>G (p.Asp106Glu)
c.492C>G (p.Asp164Glu)
n.857C>G
n.852C>G
4g.134200702G>TCA358375340PABPC4Lc.318C>A (p.Asp106Glu)
c.492C>A (p.Asp164Glu)
n.857C>A
n.852C>A
4g.134200703T>ACA358375341PABPC4Lc.317A>T (p.Asp106Val)
c.491A>T (p.Asp164Val)
n.856A>T
n.851A>T
4g.134200703T>CCA358375342PABPC4Lc.317A>G (p.Asp106Gly)
c.491A>G (p.Asp164Gly)
n.856A>G
n.851A>G
4g.134200703T>GCA358375343PABPC4Lc.317A>C (p.Asp106Ala)
c.491A>C (p.Asp164Ala)
n.856A>C
n.851A>C
4g.134200704C>ACA358375344PABPC4Lc.316G>T (p.Asp106Tyr)
c.490G>T (p.Asp164Tyr)
n.855G>T
n.850G>T
 dbSNP
4g.134200704C=CA1495814929PABPC4Lc.316G= (p.Asp106=)
c.490G= (p.Asp164=)
n.855G=
n.850G=
4g.134200704C>GCA358375345PABPC4Lc.316G>C (p.Asp106His)
c.490G>C (p.Asp164His)
n.855G>C
n.850G>C
4g.134200704C>TCA358375346PABPC4Lc.316G>A (p.Asp106Asn)
c.490G>A (p.Asp164Asn)
n.855G>A
n.850G>A
4g.134200705C>ACA441362015PABPC4Lc.315G>T (p.Leu105=)
c.489G>T (p.Leu163=)
n.854G>T
n.849G>T
4g.134200705C>GCA441362016PABPC4Lc.315G>C (p.Leu105=)
c.489G>C (p.Leu163=)
n.854G>C
n.849G>C
4g.134200705C>TCA441362017PABPC4Lc.315G>A (p.Leu105=)
c.489G>A (p.Leu163=)
n.854G>A
n.849G>A
4g.134200706A>CCA358375349PABPC4Lc.314T>G (p.Leu105Arg)
c.488T>G (p.Leu163Arg)
n.853T>G
n.848T>G
 gnomAD v4
4g.134200706A>GCA358375348PABPC4Lc.314T>C (p.Leu105Pro)
c.488T>C (p.Leu163Pro)
n.853T>C
n.848T>C
4g.134200706A>TCA358375347PABPC4Lc.314T>A (p.Leu105Gln)
c.488T>A (p.Leu163Gln)
n.853T>A
n.848T>A
4g.134200707G>ACA441362018PABPC4Lc.313C>T (p.Leu105=)
c.487C>T (p.Leu163=)
n.852C>T
n.847C>T
4g.134200707G>CCA358375351PABPC4Lc.313C>G (p.Leu105Val)
c.487C>G (p.Leu163Val)
n.852C>G
n.847C>G
4g.134200707G=CA1495814932PABPC4Lc.313C= (p.Leu105=)
c.487C= (p.Leu163=)
n.852C=
n.847C=
4g.134200707G>TCA358375350PABPC4Lc.313C>A (p.Leu105Met)
c.487C>A (p.Leu163Met)
n.852C>A
n.847C>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200708A>CCA358375352PABPC4Lc.312T>G (p.Asn104Lys)
c.486T>G (p.Asn162Lys)
n.851T>G
n.846T>G
4g.134200708A>GCA441362019PABPC4Lc.312T>C (p.Asn104=)
c.486T>C (p.Asn162=)
n.851T>C
n.846T>C
4g.134200708A>TCA358375353PABPC4Lc.312T>A (p.Asn104Lys)
c.486T>A (p.Asn162Lys)
n.851T>A
n.846T>A
4g.134200710_134200711insTGTCCGTATTCA2763628674PABPC4Lc.312_313insACGGACAAAT (p.Leu105ThrfsTer10)
c.486_487insACGGACAAAT (p.Leu163ThrfsTer10)
n.851_852insACGGACAAAT
n.846_847insACGGACAAAT
4g.134200709T>ACA358375354PABPC4Lc.311A>T (p.Asn104Ile)
c.485A>T (p.Asn162Ile)
n.850A>T
n.845A>T
4g.134200709T>CCA358375355PABPC4Lc.311A>G (p.Asn104Ser)
c.485A>G (p.Asn162Ser)
n.850A>G
n.845A>G
4g.134200709T>GCA358375356PABPC4Lc.311A>C (p.Asn104Thr)
c.485A>C (p.Asn162Thr)
n.850A>C
n.845A>C
4g.134200710T>ACA358375359PABPC4Lc.310A>T (p.Asn104Tyr)
c.484A>T (p.Asn162Tyr)
n.849A>T
n.844A>T
4g.134200710T>CCA358375357PABPC4Lc.310A>G (p.Asn104Asp)
c.484A>G (p.Asn162Asp)
n.849A>G
n.844A>G
4g.134200710T>GCA358375358PABPC4Lc.310A>C (p.Asn104His)
c.484A>C (p.Asn162His)
n.849A>C
n.844A>C
4g.134200711C>ACA358375360PABPC4Lc.309G>T (p.Lys103Asn)
c.483G>T (p.Lys161Asn)
n.848G>T
n.843G>T
 COSMIC COSMIC
4g.134200711C=CA1495814935PABPC4Lc.309G= (p.Lys103=)
c.483G= (p.Lys161=)
n.848G=
n.843G=
4g.134200711C>GCA358375361PABPC4Lc.309G>C (p.Lys103Asn)
c.483G>C (p.Lys161Asn)
n.848G>C
n.843G>C
 dbSNP gnomAD v4
4g.134200711C>TCA441362020PABPC4Lc.309G>A (p.Lys103=)
c.483G>A (p.Lys161=)
n.848G>A
n.843G>A
4g.134200712T>ACA106325813PABPC4Lc.308A>T (p.Lys103Met)
c.482A>T (p.Lys161Met)
n.847A>T
n.842A>T
 dbSNP
4g.134200712T>CCA358375362PABPC4Lc.308A>G (p.Lys103Arg)
c.482A>G (p.Lys161Arg)
n.847A>G
n.842A>G
4g.134200712T>GCA358375363PABPC4Lc.308A>C (p.Lys103Thr)
c.482A>C (p.Lys161Thr)
n.847A>C
n.842A>C
4g.134200712T=CA1495814938PABPC4Lc.308A= (p.Lys103=)
c.482A= (p.Lys161=)
n.847A=
n.842A=
4g.134200713T>ACA358375364PABPC4Lc.307A>T (p.Lys103Ter)
c.481A>T (p.Lys161Ter)
n.846A>T
n.841A>T
4g.134200713T>CCA358375366PABPC4Lc.307A>G (p.Lys103Glu)
c.481A>G (p.Lys161Glu)
n.846A>G
n.841A>G
4g.134200713T>GCA358375365PABPC4Lc.307A>C (p.Lys103Gln)
c.481A>C (p.Lys161Gln)
n.846A>C
n.841A>C
4g.134200714G>ACA441362021PABPC4Lc.306C>T (p.Ile102=)
c.480C>T (p.Ile160=)
n.845C>T
n.840C>T
4g.134200714G>CCA358375367PABPC4Lc.306C>G (p.Ile102Met)
c.480C>G (p.Ile160Met)
n.845C>G
n.840C>G
4g.134200714G=CA1495814941PABPC4Lc.306C= (p.Ile102=)
c.480C= (p.Ile160=)
n.845C=
n.840C=
4g.134200714G>TCA441362022PABPC4Lc.306C>A (p.Ile102=)
c.480C>A (p.Ile160=)
n.845C>A
n.840C>A
4g.134200715A>CCA358375368PABPC4Lc.305T>G (p.Ile102Ser)
c.479T>G (p.Ile160Ser)
n.844T>G
n.839T>G
4g.134200715A>GCA358375369PABPC4Lc.305T>C (p.Ile102Thr)
c.479T>C (p.Ile160Thr)
n.844T>C
n.839T>C
4g.134200715A>TCA358375370PABPC4Lc.305T>A (p.Ile102Asn)
c.479T>A (p.Ile160Asn)
n.844T>A
n.839T>A
4g.134200715dupCA555019085PABPC4Lc.305dup (p.Lys103GlnfsTer9)
c.479dup (p.Lys161GlnfsTer9)
n.844dup
n.839dup
 dbSNP gnomAD v2 gnomAD v4
4g.134200716T>ACA358375371PABPC4Lc.304A>T (p.Ile102Phe)
c.478A>T (p.Ile160Phe)
n.843A>T
n.838A>T
4g.134200716T>CCA358375372PABPC4Lc.304A>G (p.Ile102Val)
c.478A>G (p.Ile160Val)
n.843A>G
n.838A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200716T>GCA358375373PABPC4Lc.304A>C (p.Ile102Leu)
c.478A>C (p.Ile160Leu)
n.843A>C
n.838A>C
4g.134200716T=CA1495814947PABPC4Lc.304A= (p.Ile102=)
c.478A= (p.Ile160=)
n.843A=
n.838A=
4g.134200717G>ACA441362023PABPC4Lc.303C>T (p.Phe101=)
c.477C>T (p.Phe159=)
n.842C>T
n.837C>T
4g.134200717G>CCA358375374PABPC4Lc.303C>G (p.Phe101Leu)
c.477C>G (p.Phe159Leu)
n.842C>G
n.837C>G
4g.134200717G>TCA358375375PABPC4Lc.303C>A (p.Phe101Leu)
c.477C>A (p.Phe159Leu)
n.842C>A
n.837C>A
4g.134200718A>CCA358375376PABPC4Lc.302T>G (p.Phe101Cys)
c.476T>G (p.Phe159Cys)
n.841T>G
n.836T>G
4g.134200718A>GCA358375377PABPC4Lc.302T>C (p.Phe101Ser)
c.476T>C (p.Phe159Ser)
n.841T>C
n.836T>C
4g.134200718A>TCA358375378PABPC4Lc.302T>A (p.Phe101Tyr)
c.476T>A (p.Phe159Tyr)
n.841T>A
n.836T>A
4g.134200719A>CCA358375380PABPC4Lc.301T>G (p.Phe101Val)
c.475T>G (p.Phe159Val)
n.840T>G
n.835T>G
4g.134200719A>GCA358375381PABPC4Lc.301T>C (p.Phe101Leu)
c.475T>C (p.Phe159Leu)
n.840T>C
n.835T>C
 COSMIC COSMIC
4g.134200719A>TCA358375379PABPC4Lc.301T>A (p.Phe101Ile)
c.475T>A (p.Phe159Ile)
n.840T>A
n.835T>A
4g.134200720T>ACA441362026PABPC4Lc.300A>T (p.Val100=)
c.474A>T (p.Val158=)
n.839A>T
n.834A>T
4g.134200720T>CCA441362025PABPC4Lc.300A>G (p.Val100=)
c.474A>G (p.Val158=)
n.839A>G
n.834A>G
 gnomAD v4
4g.134200720T>GCA441362024PABPC4Lc.300A>C (p.Val100=)
c.474A>C (p.Val158=)
n.839A>C
n.834A>C
4g.134200721A=CA1495814949PABPC4Lc.299T= (p.Val100=)
c.473T= (p.Val158=)
n.838T=
n.833T=
4g.134200721A>CCA358375382PABPC4Lc.299T>G (p.Val100Gly)
c.473T>G (p.Val158Gly)
n.838T>G
n.833T>G
4g.134200721A>GCA3081075PABPC4Lc.299T>C (p.Val100Ala)
c.473T>C (p.Val158Ala)
n.838T>C
n.833T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200721A>TCA358375383PABPC4Lc.299T>A (p.Val100Glu)
c.473T>A (p.Val158Glu)
n.838T>A
n.833T>A
4g.134200722C>ACA358375384PABPC4Lc.298G>T (p.Val100Leu)
c.472G>T (p.Val158Leu)
n.837G>T
n.832G>T
4g.134200722C=CA1495814955PABPC4Lc.298G= (p.Val100=)
c.472G= (p.Val158=)
n.837G=
n.832G=
4g.134200722C>GCA358375385PABPC4Lc.298G>C (p.Val100Leu)
c.472G>C (p.Val158Leu)
n.837G>C
n.832G>C
4g.134200722C>TCA106325816PABPC4Lc.298G>A (p.Val100Ile)
c.472G>A (p.Val158Ile)
n.837G>A
n.832G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.134200723G>ACA441362027PABPC4Lc.297C>T (p.Asn99=)
c.471C>T (p.Asn157=)
n.836C>T
n.831C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200723G>CCA358375386PABPC4Lc.297C>G (p.Asn99Lys)
c.471C>G (p.Asn157Lys)
n.836C>G
n.831C>G
 dbSNP gnomAD v4
4g.134200723G=CA1495814962PABPC4Lc.297C= (p.Asn99=)
c.471C= (p.Asn157=)
n.836C=
n.831C=
4g.134200723G>TCA358375387PABPC4Lc.297C>A (p.Asn99Lys)
c.471C>A (p.Asn157Lys)
n.836C>A
n.831C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200724T>ACA358375388PABPC4Lc.296A>T (p.Asn99Ile)
c.470A>T (p.Asn157Ile)
n.835A>T
n.830A>T
4g.134200724T>CCA358375389PABPC4Lc.296A>G (p.Asn99Ser)
c.470A>G (p.Asn157Ser)
n.835A>G
n.830A>G
4g.134200724T>GCA358375390PABPC4Lc.296A>C (p.Asn99Thr)
c.470A>C (p.Asn157Thr)
n.835A>C
n.830A>C
4g.134200725T>ACA358375391PABPC4Lc.295A>T (p.Asn99Tyr)
c.469A>T (p.Asn157Tyr)
n.834A>T
n.829A>T
4g.134200725T>CCA358375392PABPC4Lc.295A>G (p.Asn99Asp)
c.469A>G (p.Asn157Asp)
n.834A>G
n.829A>G
 COSMIC COSMIC
4g.134200725T>GCA358375393PABPC4Lc.295A>C (p.Asn99His)
c.469A>C (p.Asn157His)
n.834A>C
n.829A>C
4g.134200726C>ACA441362028PABPC4Lc.294G>T (p.Gly98=)
c.468G>T (p.Gly156=)
n.833G>T
n.828G>T
 dbSNP gnomAD v4
4g.134200726C>GCA441362029PABPC4Lc.294G>C (p.Gly98=)
c.468G>C (p.Gly156=)
n.833G>C
n.828G>C
4g.134200726C>TCA441362030PABPC4Lc.294G>A (p.Gly98=)
c.468G>A (p.Gly156=)
n.833G>A
n.828G>A
4g.134200728delCA2763628675PABPC4Lc.294del (p.Asn99ThrfsTer?)
c.468del (p.Asn157ThrfsTer?)
n.833del
n.828del
4g.134200727C>ACA358375396PABPC4Lc.293G>T (p.Gly98Val)
c.467G>T (p.Gly156Val)
n.832G>T
n.827G>T
4g.134200727C>GCA358375394PABPC4Lc.293G>C (p.Gly98Ala)
c.467G>C (p.Gly156Ala)
n.832G>C
n.827G>C
4g.134200727C>TCA358375395PABPC4Lc.293G>A (p.Gly98Glu)
c.467G>A (p.Gly156Glu)
n.832G>A
n.827G>A
4g.134200728C>ACA358375397PABPC4Lc.292G>T (p.Gly98Trp)
c.466G>T (p.Gly156Trp)
n.831G>T
n.826G>T
4g.134200728C>GCA358375398PABPC4Lc.292G>C (p.Gly98Arg)
c.466G>C (p.Gly156Arg)
n.831G>C
n.826G>C
4g.134200728C>TCA358375399PABPC4Lc.292G>A (p.Gly98Arg)
c.466G>A (p.Gly156Arg)
n.831G>A
n.826G>A
 dbSNP
4g.134200729A>CCA358375400PABPC4Lc.291T>G (p.Ile97Met)
c.465T>G (p.Ile155Met)
n.830T>G
n.825T>G
4g.134200729A>GCA441362031PABPC4Lc.291T>C (p.Ile97=)
c.465T>C (p.Ile155=)
n.830T>C
n.825T>C
4g.134200729A>TCA441362032PABPC4Lc.291T>A (p.Ile97=)
c.465T>A (p.Ile155=)
n.830T>A
n.825T>A
 gnomAD v4
4g.134200730A>CCA358375401PABPC4Lc.290T>G (p.Ile97Ser)
c.464T>G (p.Ile155Ser)
n.829T>G
n.824T>G
4g.134200730A>GCA358375402PABPC4Lc.290T>C (p.Ile97Thr)
c.464T>C (p.Ile155Thr)
n.829T>C
n.824T>C
 gnomAD v4
4g.134200730A>TCA358375403PABPC4Lc.290T>A (p.Ile97Asn)
c.464T>A (p.Ile155Asn)
n.829T>A
n.824T>A
4g.134200731T>ACA358375404PABPC4Lc.289A>T (p.Ile97Phe)
c.463A>T (p.Ile155Phe)
n.828A>T
n.823A>T
4g.134200731T>CCA358375405PABPC4Lc.289A>G (p.Ile97Val)
c.463A>G (p.Ile155Val)
n.828A>G
n.823A>G
4g.134200731T>GCA3081076PABPC4Lc.289A>C (p.Ile97Leu)
c.463A>C (p.Ile155Leu)
n.828A>C
n.823A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200731T=CA1495814968PABPC4Lc.289A= (p.Ile97=)
c.463A= (p.Ile155=)
n.828A=
n.823A=
4g.134200732T>ACA441362033PABPC4Lc.288A>T (p.Gly96=)
c.462A>T (p.Gly154=)
n.827A>T
n.822A>T
4g.134200732T>CCA441362034PABPC4Lc.288A>G (p.Gly96=)
c.462A>G (p.Gly154=)
n.827A>G
n.822A>G
4g.134200732T>GCA441362035PABPC4Lc.288A>C (p.Gly96=)
c.462A>C (p.Gly154=)
n.827A>C
n.822A>C
4g.134200733C>ACA358375407PABPC4Lc.287G>T (p.Gly96Val)
c.461G>T (p.Gly154Val)
n.826G>T
n.821G>T
4g.134200733C>GCA358375408PABPC4Lc.287G>C (p.Gly96Ala)
c.461G>C (p.Gly154Ala)
n.826G>C
n.821G>C
4g.134200733C>TCA358375406PABPC4Lc.287G>A (p.Gly96Glu)
c.461G>A (p.Gly154Glu)
n.826G>A
n.821G>A
4g.134200734C>ACA358375409PABPC4Lc.286G>T (p.Gly96Ter)
c.460G>T (p.Gly154Ter)
n.825G>T
n.820G>T
4g.134200734C=CA1495814972PABPC4Lc.286G= (p.Gly96=)
c.460G= (p.Gly154=)
n.825G=
n.820G=
4g.134200734C>GCA358375410PABPC4Lc.286G>C (p.Gly96Arg)
c.460G>C (p.Gly154Arg)
n.825G>C
n.820G>C
4g.134200734C>TCA358375411PABPC4Lc.286G>A (p.Gly96Arg)
c.460G>A (p.Gly154Arg)
n.825G>A
n.820G>A
 dbSNP gnomAD v3 gnomAD v4
4g.134200735A>CCA441362038PABPC4Lc.285T>G (p.Ser95=)
c.459T>G (p.Ser153=)
n.824T>G
n.819T>G
4g.134200735A>GCA441362037PABPC4Lc.285T>C (p.Ser95=)
c.459T>C (p.Ser153=)
n.824T>C
n.819T>C
4g.134200735A>TCA441362036PABPC4Lc.285T>A (p.Ser95=)
c.459T>A (p.Ser153=)
n.824T>A
n.819T>A
4g.134200735_134200736insTCA2672091055PABPC4Lc.284_285insA (p.Gly96TrpfsTer16)
c.458_459insA (p.Gly154TrpfsTer16)
n.823_824insA
n.818_819insA
 gnomAD v4
4g.134200736G>ACA358375412PABPC4Lc.284C>T (p.Ser95Phe)
c.458C>T (p.Ser153Phe)
n.823C>T
n.818C>T
4g.134200736G>CCA358375413PABPC4Lc.284C>G (p.Ser95Cys)
c.458C>G (p.Ser153Cys)
n.823C>G
n.818C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200736G=CA1495814975PABPC4Lc.284C= (p.Ser95=)
c.458C= (p.Ser153=)
n.823C=
n.818C=
4g.134200736G>TCA358375414PABPC4Lc.284C>A (p.Ser95Tyr)
c.458C>A (p.Ser153Tyr)
n.823C>A
n.818C>A
4g.134200736_134200737insCCACCATGCCAGGCTATTTATTTATTTCA2672091056PABPC4Lc.283_284insAAATAAATAAATAGCCTGGCATGGTGG (p.Ser95Ter)
c.457_458insAAATAAATAAATAGCCTGGCATGGTGG (p.Ser153Ter)
n.822_823insAAATAAATAAATAGCCTGGCATGGTGG
n.817_818insAAATAAATAAATAGCCTGGCATGGTGG
 gnomAD v4
4g.134200737A=CA1495814979PABPC4Lc.283T= (p.Ser95=)
c.457T= (p.Ser153=)
n.822T=
n.817T=
4g.134200737A>CCA358375415PABPC4Lc.283T>G (p.Ser95Ala)
c.457T>G (p.Ser153Ala)
n.822T>G
n.817T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200737A>GCA358375416PABPC4Lc.283T>C (p.Ser95Pro)
c.457T>C (p.Ser153Pro)
n.822T>C
n.817T>C
 gnomAD v4
4g.134200737A>TCA358375417PABPC4Lc.283T>A (p.Ser95Thr)
c.457T>A (p.Ser153Thr)
n.822T>A
n.817T>A
4g.134200738T>ACA358375418PABPC4Lc.282A>T (p.Arg94Ser)
c.456A>T (p.Arg152Ser)
n.821A>T
n.816A>T
 gnomAD v4
4g.134200738T>CCA441362039PABPC4Lc.282A>G (p.Arg94=)
c.456A>G (p.Arg152=)
n.821A>G
n.816A>G
4g.134200738T>GCA358375419PABPC4Lc.282A>C (p.Arg94Ser)
c.456A>C (p.Arg152Ser)
n.821A>C
n.816A>C
4g.134200738_134200741delinsTCTCCA1495814984PABPC4Lc.279_282delinsGAGA (p.Arg93=)
c.453_456delinsGAGA (p.Arg151=)
n.818_821delinsGAGA
n.813_816delinsGAGA
4g.134200739C>ACA358375420PABPC4Lc.281G>T (p.Arg94Ile)
c.455G>T (p.Arg152Ile)
n.820G>T
n.815G>T
 dbSNP
4g.134200739C=CA1495814987PABPC4Lc.281G= (p.Arg94=)
c.455G= (p.Arg152=)
n.820G=
n.815G=
4g.134200739C>GCA358375421PABPC4Lc.281G>C (p.Arg94Thr)
c.455G>C (p.Arg152Thr)
n.820G>C
n.815G>C
4g.134200739C>TCA3081078PABPC4Lc.281G>A (p.Arg94Lys)
c.455G>A (p.Arg152Lys)
n.820G>A
n.815G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.134200742_134200744delCA3081077PABPC4Lc.279_281del (p.Arg94del)
c.453_455del (p.Arg152del)
n.818_820del
n.813_815del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200740T>ACA358375422PABPC4Lc.280A>T (p.Arg94Ter)
c.454A>T (p.Arg152Ter)
n.819A>T
n.814A>T
4g.134200740T>CCA358375423PABPC4Lc.280A>G (p.Arg94Gly)
c.454A>G (p.Arg152Gly)
n.819A>G
n.814A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200740T>GCA441362040PABPC4Lc.280A>C (p.Arg94=)
c.454A>C (p.Arg152=)
n.819A>C
n.814A>C
4g.134200740T=CA1495814991PABPC4Lc.280A= (p.Arg94=)
c.454A= (p.Arg152=)
n.819A=
n.814A=
4g.134200741C>ACA358375424PABPC4Lc.279G>T (p.Arg93Ser)
c.453G>T (p.Arg151Ser)
n.818G>T
n.813G>T
 gnomAD v4
4g.134200741C=CA1495814994PABPC4Lc.279G= (p.Arg93=)
c.453G= (p.Arg151=)
n.818G=
n.813G=
4g.134200741C>GCA358375425PABPC4Lc.279G>C (p.Arg93Ser)
c.453G>C (p.Arg151Ser)
n.818G>C
n.813G>C
4g.134200741C>TCA106325821PABPC4Lc.279G>A (p.Arg93=)
c.453G>A (p.Arg151=)
n.818G>A
n.813G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200742C>ACA358375428PABPC4Lc.278G>T (p.Arg93Met)
c.452G>T (p.Arg151Met)
n.817G>T
n.812G>T
 gnomAD v4
4g.134200742C>GCA358375427PABPC4Lc.278G>C (p.Arg93Thr)
c.452G>C (p.Arg151Thr)
n.817G>C
n.812G>C
4g.134200742C>TCA358375426PABPC4Lc.278G>A (p.Arg93Lys)
c.452G>A (p.Arg151Lys)
n.817G>A
n.812G>A
 gnomAD v4
4g.134200743T>ACA358375429PABPC4Lc.277A>T (p.Arg93Trp)
c.451A>T (p.Arg151Trp)
n.816A>T
n.811A>T
4g.134200743T>CCA358375430PABPC4Lc.277A>G (p.Arg93Gly)
c.451A>G (p.Arg151Gly)
n.816A>G
n.811A>G
4g.134200743T>GCA441362041PABPC4Lc.277A>C (p.Arg93=)
c.451A>C (p.Arg151=)
n.816A>C
n.811A>C
 gnomAD v4
4g.134200744C>ACA358375431PABPC4Lc.276G>T (p.Leu92Phe)
c.450G>T (p.Leu150Phe)
n.815G>T
n.810G>T
 COSMIC COSMIC
4g.134200744C=CA1495814997PABPC4Lc.276G= (p.Leu92=)
c.450G= (p.Leu150=)
n.815G=
n.810G=
4g.134200744C>GCA358375432PABPC4Lc.276G>C (p.Leu92Phe)
c.450G>C (p.Leu150Phe)
n.815G>C
n.810G>C
 dbSNP gnomAD v2 gnomAD v4
4g.134200744C>TCA441362042PABPC4Lc.276G>A (p.Leu92=)
c.450G>A (p.Leu150=)
n.815G>A
n.810G>A
 COSMIC COSMIC
4g.134200745A>CCA358375433PABPC4Lc.275T>G (p.Leu92Trp)
c.449T>G (p.Leu150Trp)
n.814T>G
n.809T>G
4g.134200745A>GCA358375434PABPC4Lc.275T>C (p.Leu92Ser)
c.449T>C (p.Leu150Ser)
n.814T>C
n.809T>C
4g.134200745A>TCA358375435PABPC4Lc.275T>A (p.Leu92Ter)
c.449T>A (p.Leu150Ter)
n.814T>A
n.809T>A
4g.134200746A>CCA358375436PABPC4Lc.274T>G (p.Leu92Val)
c.448T>G (p.Leu150Val)
n.813T>G
n.808T>G
4g.134200746A>GCA441362043PABPC4Lc.274T>C (p.Leu92=)
c.448T>C (p.Leu150=)
n.813T>C
n.808T>C
 gnomAD v4
4g.134200746A>TCA358375437PABPC4Lc.274T>A (p.Leu92Met)
c.448T>A (p.Leu150Met)
n.813T>A
n.808T>A
4g.134200746_134200747insACACCCAAACACACCCAACACACA2763628676PABPC4Lc.274_275insGTGTTGGGTGTGTTTGGGTGTT (p.Leu92CysfsTer27)
c.448_449insGTGTTGGGTGTGTTTGGGTGTT (p.Leu150CysfsTer27)
n.813_814insGTGTTGGGTGTGTTTGGGTGTT
n.808_809insGTGTTGGGTGTGTTTGGGTGTT
4g.134200747G>ACA441362044PABPC4Lc.273C>T (p.Tyr91=)
c.447C>T (p.Tyr149=)
n.812C>T
n.807C>T
4g.134200747G>CCA358375438PABPC4Lc.273C>G (p.Tyr91Ter)
c.447C>G (p.Tyr149Ter)
n.812C>G
n.807C>G
4g.134200747G>TCA358375439PABPC4Lc.273C>A (p.Tyr91Ter)
c.447C>A (p.Tyr149Ter)
n.812C>A
n.807C>A
4g.134200748T>ACA358375440PABPC4Lc.272A>T (p.Tyr91Phe)
c.446A>T (p.Tyr149Phe)
n.811A>T
n.806A>T
4g.134200748T>CCA358375442PABPC4Lc.272A>G (p.Tyr91Cys)
c.446A>G (p.Tyr149Cys)
n.811A>G
n.806A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200748T>GCA358375441PABPC4Lc.272A>C (p.Tyr91Ser)
c.446A>C (p.Tyr149Ser)
n.811A>C
n.806A>C
 dbSNP gnomAD v4
4g.134200748T=CA1495814998PABPC4Lc.272A= (p.Tyr91=)
c.446A= (p.Tyr149=)
n.811A=
n.806A=
4g.134200749A=CA1495815001PABPC4Lc.271T= (p.Tyr91=)
c.445T= (p.Tyr149=)
n.810T=
n.805T=
4g.134200749A>CCA358375443PABPC4Lc.271T>G (p.Tyr91Asp)
c.445T>G (p.Tyr149Asp)
n.810T>G
n.805T>G
4g.134200749A>GCA106325823PABPC4Lc.271T>C (p.Tyr91His)
c.445T>C (p.Tyr149His)
n.810T>C
n.805T>C
 dbSNP
4g.134200749A>TCA358375444PABPC4Lc.271T>A (p.Tyr91Asn)
c.445T>A (p.Tyr149Asn)
n.810T>A
n.805T>A
4g.134200750G>ACA441362045PABPC4Lc.270C>T (p.Ala90=)
c.444C>T (p.Ala148=)
n.809C>T
n.804C>T
 gnomAD v4
4g.134200750G>CCA441362046PABPC4Lc.270C>G (p.Ala90=)
c.444C>G (p.Ala148=)
n.809C>G
n.804C>G
 gnomAD v4
4g.134200750G>TCA441362047PABPC4Lc.270C>A (p.Ala90=)
c.444C>A (p.Ala148=)
n.809C>A
n.804C>A
4g.134200751G>ACA358375445PABPC4Lc.269C>T (p.Ala90Val)
c.443C>T (p.Ala148Val)
n.808C>T
n.803C>T
 gnomAD v4
4g.134200751G>CCA358375447PABPC4Lc.269C>G (p.Ala90Gly)
c.443C>G (p.Ala148Gly)
n.808C>G
n.803C>G
4g.134200751G>TCA358375446PABPC4Lc.269C>A (p.Ala90Asp)
c.443C>A (p.Ala148Asp)
n.808C>A
n.803C>A
4g.134200752C>ACA358375448PABPC4Lc.268G>T (p.Ala90Ser)
c.442G>T (p.Ala148Ser)
n.807G>T
n.802G>T
4g.134200752C=CA1495815003PABPC4Lc.268G= (p.Ala90=)
c.442G= (p.Ala148=)
n.807G=
n.802G=
4g.134200752C>GCA358375449PABPC4Lc.268G>C (p.Ala90Pro)
c.442G>C (p.Ala148Pro)
n.807G>C
n.802G>C
4g.134200752C>TCA358375450PABPC4Lc.268G>A (p.Ala90Thr)
c.442G>A (p.Ala148Thr)
n.807G>A
n.802G>A
 gnomAD v4
4g.134200753A>CCA358375451PABPC4Lc.267T>G (p.Asp89Glu)
c.441T>G (p.Asp147Glu)
n.806T>G
n.801T>G
4g.134200753A>GCA441362048PABPC4Lc.267T>C (p.Asp89=)
c.441T>C (p.Asp147=)
n.806T>C
n.801T>C
4g.134200753A>TCA358375452PABPC4Lc.267T>A (p.Asp89Glu)
c.441T>A (p.Asp147Glu)
n.806T>A
n.801T>A
4g.134200753dupCA787526460PABPC4Lc.267dup (p.Ala90CysfsTer22)
c.441dup (p.Ala148CysfsTer22)
n.806dup
n.801dup
 dbSNP gnomAD v3 gnomAD v4
4g.134200754T>ACA358375453PABPC4Lc.266A>T (p.Asp89Val)
c.440A>T (p.Asp147Val)
n.805A>T
n.800A>T
4g.134200754T>CCA358375454PABPC4Lc.266A>G (p.Asp89Gly)
c.440A>G (p.Asp147Gly)
n.805A>G
n.800A>G
 gnomAD v4
4g.134200754T>GCA358375455PABPC4Lc.266A>C (p.Asp89Ala)
c.440A>C (p.Asp147Ala)
n.805A>C
n.800A>C
4g.134200755C>ACA358375456PABPC4Lc.265G>T (p.Asp89Tyr)
c.439G>T (p.Asp147Tyr)
n.804G>T
n.799G>T
 dbSNP gnomAD v3 gnomAD v4
4g.134200755C=CA1495815008PABPC4Lc.265G= (p.Asp89=)
c.439G= (p.Asp147=)
n.804G=
n.799G=
4g.134200755C>GCA358375457PABPC4Lc.265G>C (p.Asp89His)
c.439G>C (p.Asp147His)
n.804G>C
n.799G>C
4g.134200755C>TCA358375458PABPC4Lc.265G>A (p.Asp89Asn)
c.439G>A (p.Asp147Asn)
n.804G>A
n.799G>A
 dbSNP gnomAD v3 gnomAD v4
4g.134200756G>ACA3081079PABPC4Lc.264C>T (p.Arg88=)
c.438C>T (p.Arg146=)
n.803C>T
n.798C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.134200756G>CCA441362049PABPC4Lc.264C>G (p.Arg88=)
c.438C>G (p.Arg146=)
n.803C>G
n.798C>G
 dbSNP gnomAD v4
4g.134200756G=CA1495815011PABPC4Lc.264C= (p.Arg88=)
c.438C= (p.Arg146=)
n.803C=
n.798C=
4g.134200756G>TCA441362050PABPC4Lc.264C>A (p.Arg88=)
c.438C>A (p.Arg146=)
n.803C>A
n.798C>A
4g.134200757C>ACA358375459PABPC4Lc.263G>T (p.Arg88Leu)
c.437G>T (p.Arg146Leu)
n.802G>T
n.797G>T
4g.134200757C=CA1495815015PABPC4Lc.263G= (p.Arg88=)
c.437G= (p.Arg146=)
n.802G=
n.797G=
4g.134200757C>GCA358375460PABPC4Lc.263G>C (p.Arg88Pro)
c.437G>C (p.Arg146Pro)
n.802G>C
n.797G>C
4g.134200757C>TCA358375461PABPC4Lc.263G>A (p.Arg88His)
c.437G>A (p.Arg146His)
n.802G>A
n.797G>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200758G>ACA3081080PABPC4Lc.262C>T (p.Arg88Cys)
c.436C>T (p.Arg146Cys)
n.801C>T
n.796C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200758G>CCA358375462PABPC4Lc.262C>G (p.Arg88Gly)
c.436C>G (p.Arg146Gly)
n.801C>G
n.796C>G
4g.134200758G=CA1495815016PABPC4Lc.262C= (p.Arg88=)
c.436C= (p.Arg146=)
n.801C=
n.796C=
4g.134200758G>TCA358375464PABPC4Lc.262C>A (p.Arg88Ser)
c.436C>A (p.Arg146Ser)
n.801C>A
n.796C>A
 gnomAD v4
4g.134200759C>ACA358375465PABPC4Lc.261G>T (p.Gln87His)
c.435G>T (p.Gln145His)
n.800G>T
n.795G>T
4g.134200759C=CA1495815020PABPC4Lc.261G= (p.Gln87=)
c.435G= (p.Gln145=)
n.800G=
n.795G=
4g.134200759C>GCA358375466PABPC4Lc.261G>C (p.Gln87His)
c.435G>C (p.Gln145His)
n.800G>C
n.795G>C
4g.134200759C>TCA441362051PABPC4Lc.261G>A (p.Gln87=)
c.435G>A (p.Gln145=)
n.800G>A
n.795G>A
 dbSNP gnomAD v4 COSMIC COSMIC
4g.134200760T>ACA358375467PABPC4Lc.260A>T (p.Gln87Leu)
c.434A>T (p.Gln145Leu)
n.799A>T
n.794A>T
 gnomAD v4
4g.134200760T>CCA358375468PABPC4Lc.260A>G (p.Gln87Arg)
c.434A>G (p.Gln145Arg)
n.799A>G
n.794A>G
4g.134200760T>GCA358375469PABPC4Lc.260A>C (p.Gln87Pro)
c.434A>C (p.Gln145Pro)
n.799A>C
n.794A>C
4g.134200761G>ACA358375471PABPC4Lc.259C>T (p.Gln87Ter)
c.433C>T (p.Gln145Ter)
n.798C>T
n.793C>T
 gnomAD v4
4g.134200761G>CCA358375472PABPC4Lc.259C>G (p.Gln87Glu)
c.433C>G (p.Gln145Glu)
n.798C>G
n.793C>G
4g.134200761G>TCA358375470PABPC4Lc.259C>A (p.Gln87Lys)
c.433C>A (p.Gln145Lys)
n.798C>A
n.793C>A
4g.134200762A>CCA441362054PABPC4Lc.258T>G (p.Ser86=)
c.432T>G (p.Ser144=)
n.797T>G
n.792T>G
4g.134200762A>GCA441362053PABPC4Lc.258T>C (p.Ser86=)
c.432T>C (p.Ser144=)
n.797T>C
n.792T>C
4g.134200762A>TCA441362052PABPC4Lc.258T>A (p.Ser86=)
c.432T>A (p.Ser144=)
n.797T>A
n.792T>A
4g.134200763G>ACA358375473PABPC4Lc.257C>T (p.Ser86Phe)
c.431C>T (p.Ser144Phe)
n.796C>T
n.791C>T
 gnomAD v4
4g.134200763G>CCA358375474PABPC4Lc.257C>G (p.Ser86Cys)
c.431C>G (p.Ser144Cys)
n.796C>G
n.791C>G
4g.134200763G>TCA358375475PABPC4Lc.257C>A (p.Ser86Tyr)
c.431C>A (p.Ser144Tyr)
n.796C>A
n.791C>A
4g.134200764A>CCA358375476PABPC4Lc.256T>G (p.Ser86Ala)
c.430T>G (p.Ser144Ala)
n.795T>G
n.790T>G
4g.134200764A>GCA358375477PABPC4Lc.256T>C (p.Ser86Pro)
c.430T>C (p.Ser144Pro)
n.795T>C
n.790T>C
4g.134200764A>TCA358375478PABPC4Lc.256T>A (p.Ser86Thr)
c.430T>A (p.Ser144Thr)
n.795T>A
n.790T>A
4g.134200765C>ACA358375479PABPC4Lc.255G>T (p.Trp85Cys)
c.429G>T (p.Trp143Cys)
n.794G>T
n.789G>T
4g.134200765C>GCA358375480PABPC4Lc.255G>C (p.Trp85Cys)
c.429G>C (p.Trp143Cys)
n.794G>C
n.789G>C
4g.134200765C>TCA358375481PABPC4Lc.255G>A (p.Trp85Ter)
c.429G>A (p.Trp143Ter)
n.794G>A
n.789G>A

Number of alleles fetched