Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111400987T>ACA2694473336DCXc.705+3A>T (n.705+3A>T)
c.948+3A>T (n.948+3A>T)
c.923+3A>T
n.945+3A>T
 gnomAD v4
Xg.111400987T>CCA2739004169DCXc.705+3A>G (n.705+3A>G)
c.948+3A>G (n.948+3A>G)
c.923+3A>G
n.945+3A>G
 dbSNP
Xg.111400988A>CCA414245788DCXc.705+2T>G (n.705+2T>G)
c.948+2T>G (n.948+2T>G)
c.923+2T>G
n.945+2T>G
Xg.111400988A>GCA414245789DCXc.705+2T>C (n.705+2T>C)
c.948+2T>C (n.948+2T>C)
c.923+2T>C
n.945+2T>C
Xg.111400988A>TCA414245787DCXc.705+2T>A (n.705+2T>A)
c.948+2T>A (n.948+2T>A)
c.923+2T>A
n.945+2T>A
Xg.111400988_111400989delinsACCA2451697191DCXc.705+1_705+2delinsGT (n.705+1_705+2delinsGT)
c.948+1_948+2delinsGT (n.948+1_948+2delinsGT)
c.923+1_923+2delinsGT
n.945+1_945+2delinsGT
Xg.111400989C>ACA414245792DCXc.705+1G>T (n.705+1G>T)
c.948+1G>T (n.948+1G>T)
c.923+1G>T
n.945+1G>T
Xg.111400989C>GCA414245790DCXc.705+1G>C (n.705+1G>C)
c.948+1G>C (n.948+1G>C)
c.923+1G>C
n.945+1G>C
Xg.111400989C>TCA414245791DCXc.705+1G>A (n.705+1G>A)
c.948+1G>A (n.948+1G>A)
c.923+1G>A
n.945+1G>A
 ClinVar dbSNP
Xg.111400990delCA645373313DCXc.705+1del
c.948+1del
c.923+1del
n.945+1del
 ClinVar dbSNP
Xg.111400990C>ACA414245793DCXc.705G>T (p.Gln235His)
c.948G>T (p.Gln316His)
c.923G>T
n.945G>T
Xg.111400990C>GCA414245794DCXc.705G>C (p.Gln235His)
c.948G>C (p.Gln316His)
c.923G>C
n.945G>C
Xg.111400990C>TCA518113915DCXc.705G>A (p.Gln235=)
c.948G>A (p.Gln316=)
c.923G>A
n.945G>A
Xg.111400991T>ACA414245795DCXc.704A>T (p.Gln235Leu)
c.947A>T (p.Gln316Leu)
c.922A>T
n.944A>T
Xg.111400991T>CCA414245796DCXc.704A>G (p.Gln235Arg)
c.947A>G (p.Gln316Arg)
c.922A>G
n.944A>G
Xg.111400991T>GCA414245797DCXc.704A>C (p.Gln235Pro)
c.947A>C (p.Gln316Pro)
c.922A>C
n.944A>C
Xg.111400992G>ACA414245798DCXc.703C>T (p.Gln235Ter)
c.946C>T (p.Gln316Ter)
c.921C>T
n.943C>T
 ClinVar
Xg.111400992G>CCA414245799DCXc.703C>G (p.Gln235Glu)
c.946C>G (p.Gln316Glu)
c.921C>G
n.943C>G
Xg.111400992G>TCA414245800DCXc.703C>A (p.Gln235Lys)
c.946C>A (p.Gln316Lys)
c.921C>A
n.943C>A
Xg.111400993T>ACA414245801DCXc.702A>T (p.Lys234Asn)
c.945A>T (p.Lys315Asn)
c.920A>T
n.942A>T
Xg.111400993T>CCA518113916DCXc.702A>G (p.Lys234=)
c.945A>G (p.Lys315=)
c.920A>G
n.942A>G
Xg.111400993T>GCA414245802DCXc.702A>C (p.Lys234Asn)
c.945A>C (p.Lys315Asn)
c.920A>C
n.942A>C
Xg.111400994T>ACA414245805DCXc.701A>T (p.Lys234Ile)
c.944A>T (p.Lys315Ile)
c.919A>T
n.941A>T
Xg.111400994T>CCA414245803DCXc.701A>G (p.Lys234Arg)
c.944A>G (p.Lys315Arg)
c.919A>G
n.941A>G
Xg.111400994T>GCA414245804DCXc.701A>C (p.Lys234Thr)
c.944A>C (p.Lys315Thr)
c.919A>C
n.941A>C
Xg.111400995T>ACA414245806DCXc.700A>T (p.Lys234Ter)
c.943A>T (p.Lys315Ter)
c.918A>T
n.940A>T
Xg.111400995T>CCA414245807DCXc.700A>G (p.Lys234Glu)
c.943A>G (p.Lys315Glu)
c.918A>G
n.940A>G
Xg.111400995T>GCA414245808DCXc.700A>C (p.Lys234Gln)
c.943A>C (p.Lys315Gln)
c.918A>C
n.940A>C
Xg.111400995T=CA2451697192DCXc.700A= (p.Lys234=)
c.943A= (p.Lys315=)
c.918A=
n.940A=
Xg.111400996T>ACA518113917DCXc.699A>T (p.Gly233=)
c.942A>T (p.Gly314=)
c.917A>T
n.939A>T
Xg.111400996T>CCA518113919DCXc.699A>G (p.Gly233=)
c.942A>G (p.Gly314=)
c.917A>G
n.939A>G
Xg.111400996T>GCA518113918DCXc.699A>C (p.Gly233=)
c.942A>C (p.Gly314=)
c.917A>C
n.939A>C
Xg.111400996_111401010dupCA206209DCXc.685_699dup (p.Gly233_Lys234insTyrThrLeuAspGly)
c.928_942dup (p.Gly314_Lys315insTyrThrLeuAspGly)
c.903_917dup
n.925_939dup
 ClinVar dbSNP
Xg.111400997C>ACA414245809DCXc.698G>T (p.Gly233Val)
c.941G>T (p.Gly314Val)
c.916G>T
n.938G>T
Xg.111400997C>GCA414245810DCXc.698G>C (p.Gly233Ala)
c.941G>C (p.Gly314Ala)
c.916G>C
n.938G>C
Xg.111400997C>TCA414245811DCXc.698G>A (p.Gly233Glu)
c.941G>A (p.Gly314Glu)
c.916G>A
n.938G>A
Xg.111400998C>ACA414245812DCXc.697G>T (p.Gly233Ter)
c.940G>T (p.Gly314Ter)
c.915G>T
n.937G>T
Xg.111400998C>GCA414245813DCXc.697G>C (p.Gly233Arg)
c.940G>C (p.Gly314Arg)
c.915G>C
n.937G>C
Xg.111400998C>TCA414245814DCXc.697G>A (p.Gly233Arg)
c.940G>A (p.Gly314Arg)
c.915G>A
n.937G>A
Xg.111400999A=CA2451697193DCXc.696T= (p.Asp232=)
c.939T= (p.Asp313=)
c.914T=
n.936T=
Xg.111400999A>CCA414245815DCXc.696T>G (p.Asp232Glu)
c.939T>G (p.Asp313Glu)
c.914T>G
n.936T>G
Xg.111400999A>GCA518113920DCXc.696T>C (p.Asp232=)
c.939T>C (p.Asp313=)
c.914T>C
n.936T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.111400999A>TCA414245816DCXc.696T>A (p.Asp232Glu)
c.939T>A (p.Asp313Glu)
c.914T>A
n.936T>A
Xg.111401000T>ACA414245818DCXc.695A>T (p.Asp232Val)
c.938A>T (p.Asp313Val)
c.913A>T
n.935A>T
Xg.111401000T>CCA414245819DCXc.695A>G (p.Asp232Gly)
c.938A>G (p.Asp313Gly)
c.913A>G
n.935A>G
Xg.111401000T>GCA414245817DCXc.695A>C (p.Asp232Ala)
c.938A>C (p.Asp313Ala)
c.913A>C
n.935A>C
Xg.111401001C>ACA414245820DCXc.694G>T (p.Asp232Tyr)
c.937G>T (p.Asp313Tyr)
c.912G>T
n.934G>T
Xg.111401001C>GCA414245821DCXc.694G>C (p.Asp232His)
c.937G>C (p.Asp313His)
c.912G>C
n.934G>C
Xg.111401001C>TCA414245822DCXc.694G>A (p.Asp232Asn)
c.937G>A (p.Asp313Asn)
c.912G>A
n.934G>A
 dbSNP
Xg.111401002C>ACA518113921DCXc.693G>T (p.Leu231=)
c.936G>T (p.Leu312=)
c.911G>T
n.933G>T

Number of alleles fetched