Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.103100354C>ACA488193632EXOC3L4c.135C>A (p.Gly45=)
c.27C>A (p.Gly9=)
c.309C>A (p.Gly103=)
c.246C>A (p.Gly82=)
n.864C>A
n.891C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100354C=CA2160140022EXOC3L4c.135C= (p.Gly45=)
c.27C= (p.Gly9=)
c.309C= (p.Gly103=)
c.246C= (p.Gly82=)
n.864C=
n.891C=
14g.103100354C>GCA488193651EXOC3L4c.135C>G (p.Gly45=)
c.27C>G (p.Gly9=)
c.309C>G (p.Gly103=)
c.246C>G (p.Gly82=)
n.864C>G
n.891C>G
 gnomAD v4
14g.103100354C>TCA488193652EXOC3L4c.135C>T (p.Gly45=)
c.27C>T (p.Gly9=)
c.309C>T (p.Gly103=)
c.246C>T (p.Gly82=)
n.864C>T
n.891C>T
 dbSNP gnomAD v4
14g.103100355A>CCA391081137EXOC3L4c.136A>C (p.Thr46Pro)
c.28A>C (p.Thr10Pro)
c.310A>C (p.Thr104Pro)
c.247A>C (p.Thr83Pro)
n.865A>C
n.892A>C
14g.103100355A>GCA391081135EXOC3L4c.136A>G (p.Thr46Ala)
c.28A>G (p.Thr10Ala)
c.310A>G (p.Thr104Ala)
c.247A>G (p.Thr83Ala)
n.865A>G
n.892A>G
14g.103100355A>TCA391081133EXOC3L4c.136A>T (p.Thr46Ser)
c.28A>T (p.Thr10Ser)
c.310A>T (p.Thr104Ser)
c.247A>T (p.Thr83Ser)
n.865A>T
n.892A>T
14g.103100356C>ACA391081139EXOC3L4c.137C>A (p.Thr46Lys)
c.29C>A (p.Thr10Lys)
c.311C>A (p.Thr104Lys)
c.248C>A (p.Thr83Lys)
n.866C>A
n.893C>A
14g.103100356C=CA2160140023EXOC3L4c.137C= (p.Thr46=)
c.29C= (p.Thr10=)
c.311C= (p.Thr104=)
c.248C= (p.Thr83=)
n.866C=
n.893C=
14g.103100356C>GCA391081140EXOC3L4c.137C>G (p.Thr46Arg)
c.29C>G (p.Thr10Arg)
c.311C>G (p.Thr104Arg)
c.248C>G (p.Thr83Arg)
n.866C>G
n.893C>G
14g.103100356C>TCA391081142EXOC3L4c.137C>T (p.Thr46Ile)
c.29C>T (p.Thr10Ile)
c.311C>T (p.Thr104Ile)
c.248C>T (p.Thr83Ile)
n.866C>T
n.893C>T
 dbSNP gnomAD v4
14g.103100357A>CCA488193657EXOC3L4c.138A>C (p.Thr46=)
c.30A>C (p.Thr10=)
c.312A>C (p.Thr104=)
c.249A>C (p.Thr83=)
n.867A>C
n.894A>C
14g.103100357A>GCA488193656EXOC3L4c.138A>G (p.Thr46=)
c.30A>G (p.Thr10=)
c.312A>G (p.Thr104=)
c.249A>G (p.Thr83=)
n.867A>G
n.894A>G
 gnomAD v4
14g.103100357A>TCA488193655EXOC3L4c.138A>T (p.Thr46=)
c.30A>T (p.Thr10=)
c.312A>T (p.Thr104=)
c.249A>T (p.Thr83=)
n.867A>T
n.894A>T
14g.103100358A=CA2160140024EXOC3L4c.139A= (p.Arg47=)
c.31A= (p.Arg11=)
c.313A= (p.Arg105=)
c.250A= (p.Arg84=)
n.868A=
n.895A=
14g.103100358A>CCA488193660EXOC3L4c.139A>C (p.Arg47=)
c.31A>C (p.Arg11=)
c.313A>C (p.Arg105=)
c.250A>C (p.Arg84=)
n.868A>C
n.895A>C
14g.103100358A>GCA391081144EXOC3L4c.139A>G (p.Arg47Gly)
c.31A>G (p.Arg11Gly)
c.313A>G (p.Arg105Gly)
c.250A>G (p.Arg84Gly)
n.868A>G
n.895A>G
 dbSNP gnomAD v2
14g.103100358A>TCA391081146EXOC3L4c.139A>T (p.Arg47Trp)
c.31A>T (p.Arg11Trp)
c.313A>T (p.Arg105Trp)
c.250A>T (p.Arg84Trp)
n.868A>T
n.895A>T
14g.103100359G>ACA7361808EXOC3L4c.140G>A (p.Arg47Lys)
c.32G>A (p.Arg11Lys)
c.314G>A (p.Arg105Lys)
c.251G>A (p.Arg84Lys)
n.869G>A
n.896G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100359G>CCA391081147EXOC3L4c.140G>C (p.Arg47Thr)
c.32G>C (p.Arg11Thr)
c.314G>C (p.Arg105Thr)
c.251G>C (p.Arg84Thr)
n.869G>C
n.896G>C
14g.103100359G=CA2160140025EXOC3L4c.140G= (p.Arg47=)
c.32G= (p.Arg11=)
c.314G= (p.Arg105=)
c.251G= (p.Arg84=)
n.869G=
n.896G=
14g.103100359G>TCA391081149EXOC3L4c.140G>T (p.Arg47Met)
c.32G>T (p.Arg11Met)
c.314G>T (p.Arg105Met)
c.251G>T (p.Arg84Met)
n.869G>T
n.896G>T
14g.103100360G>ACA488193661EXOC3L4c.141G>A (p.Arg47=)
c.33G>A (p.Arg11=)
c.315G>A (p.Arg105=)
c.252G>A (p.Arg84=)
n.870G>A
n.897G>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100360G>CCA391081151EXOC3L4c.141G>C (p.Arg47Ser)
c.33G>C (p.Arg11Ser)
c.315G>C (p.Arg105Ser)
c.252G>C (p.Arg84Ser)
n.870G>C
n.897G>C
 dbSNP gnomAD v2 gnomAD v4
14g.103100360G=CA2160140026EXOC3L4c.141G= (p.Arg47=)
c.33G= (p.Arg11=)
c.315G= (p.Arg105=)
c.252G= (p.Arg84=)
n.870G=
n.897G=
14g.103100360G>TCA391081152EXOC3L4c.141G>T (p.Arg47Ser)
c.33G>T (p.Arg11Ser)
c.315G>T (p.Arg105Ser)
c.252G>T (p.Arg84Ser)
n.870G>T
n.897G>T
 gnomAD v4
14g.103100361C>ACA391081154EXOC3L4c.142C>A (p.Leu48Met)
c.34C>A (p.Leu12Met)
c.316C>A (p.Leu106Met)
c.253C>A (p.Leu85Met)
n.871C>A
n.898C>A
14g.103100361C>GCA391081156EXOC3L4c.142C>G (p.Leu48Val)
c.34C>G (p.Leu12Val)
c.316C>G (p.Leu106Val)
c.253C>G (p.Leu85Val)
n.871C>G
n.898C>G
14g.103100361C>TCA488193664EXOC3L4c.142C>T (p.Leu48=)
c.34C>T (p.Leu12=)
c.316C>T (p.Leu106=)
c.253C>T (p.Leu85=)
n.871C>T
n.898C>T
 gnomAD v4
14g.103100362T>ACA391081162EXOC3L4c.143T>A (p.Leu48Gln)
c.35T>A (p.Leu12Gln)
c.317T>A (p.Leu106Gln)
c.254T>A (p.Leu85Gln)
n.872T>A
n.899T>A
14g.103100362T>CCA391081160EXOC3L4c.143T>C (p.Leu48Pro)
c.35T>C (p.Leu12Pro)
c.317T>C (p.Leu106Pro)
c.254T>C (p.Leu85Pro)
n.872T>C
n.899T>C
14g.103100362T>GCA391081158EXOC3L4c.143T>G (p.Leu48Arg)
c.35T>G (p.Leu12Arg)
c.317T>G (p.Leu106Arg)
c.254T>G (p.Leu85Arg)
n.872T>G
n.899T>G
14g.103100363G>ACA488193667EXOC3L4c.144G>A (p.Leu48=)
c.36G>A (p.Leu12=)
c.318G>A (p.Leu106=)
c.255G>A (p.Leu85=)
n.873G>A
n.900G>A
14g.103100363G>CCA488193669EXOC3L4c.144G>C (p.Leu48=)
c.36G>C (p.Leu12=)
c.318G>C (p.Leu106=)
c.255G>C (p.Leu85=)
n.873G>C
n.900G>C
14g.103100363G>TCA488193671EXOC3L4c.144G>T (p.Leu48=)
c.36G>T (p.Leu12=)
c.318G>T (p.Leu106=)
c.255G>T (p.Leu85=)
n.873G>T
n.900G>T
14g.103100364G>ACA7361809EXOC3L4c.145G>A (p.Gly49Ser)
c.37G>A (p.Gly13Ser)
c.319G>A (p.Gly107Ser)
c.256G>A (p.Gly86Ser)
n.874G>A
n.901G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100364G>CCA391081164EXOC3L4c.145G>C (p.Gly49Arg)
c.37G>C (p.Gly13Arg)
c.319G>C (p.Gly107Arg)
c.256G>C (p.Gly86Arg)
n.874G>C
n.901G>C
14g.103100364G=CA2160140027EXOC3L4c.145G= (p.Gly49=)
c.37G= (p.Gly13=)
c.319G= (p.Gly107=)
c.256G= (p.Gly86=)
n.874G=
n.901G=
14g.103100364G>TCA391081167EXOC3L4c.145G>T (p.Gly49Cys)
c.37G>T (p.Gly13Cys)
c.319G>T (p.Gly107Cys)
c.256G>T (p.Gly86Cys)
n.874G>T
n.901G>T
14g.103100365G>ACA391081169EXOC3L4c.146G>A (p.Gly49Asp)
c.38G>A (p.Gly13Asp)
c.320G>A (p.Gly107Asp)
c.257G>A (p.Gly86Asp)
n.875G>A
n.902G>A
14g.103100365G>CCA391081171EXOC3L4c.146G>C (p.Gly49Ala)
c.38G>C (p.Gly13Ala)
c.320G>C (p.Gly107Ala)
c.257G>C (p.Gly86Ala)
n.875G>C
n.902G>C
14g.103100365G>TCA391081173EXOC3L4c.146G>T (p.Gly49Val)
c.38G>T (p.Gly13Val)
c.320G>T (p.Gly107Val)
c.257G>T (p.Gly86Val)
n.875G>T
n.902G>T
14g.103100366C>ACA488193683EXOC3L4c.147C>A (p.Gly49=)
c.39C>A (p.Gly13=)
c.321C>A (p.Gly107=)
c.258C>A (p.Gly86=)
n.876C>A
n.903C>A
14g.103100366C>GCA488193684EXOC3L4c.147C>G (p.Gly49=)
c.39C>G (p.Gly13=)
c.321C>G (p.Gly107=)
c.258C>G (p.Gly86=)
n.876C>G
n.903C>G
14g.103100366C>TCA488193685EXOC3L4c.147C>T (p.Gly49=)
c.39C>T (p.Gly13=)
c.321C>T (p.Gly107=)
c.258C>T (p.Gly86=)
n.876C>T
n.903C>T
14g.103100367C>ACA391081178EXOC3L4c.148C>A (p.Leu50Met)
c.40C>A (p.Leu14Met)
c.322C>A (p.Leu108Met)
c.259C>A (p.Leu87Met)
n.877C>A
n.904C>A
14g.103100367C>GCA391081176EXOC3L4c.148C>G (p.Leu50Val)
c.40C>G (p.Leu14Val)
c.322C>G (p.Leu108Val)
c.259C>G (p.Leu87Val)
n.877C>G
n.904C>G
14g.103100367C>TCA488193690EXOC3L4c.148C>T (p.Leu50=)
c.40C>T (p.Leu14=)
c.322C>T (p.Leu108=)
c.259C>T (p.Leu87=)
n.877C>T
n.904C>T
14g.103100368T>ACA391081181EXOC3L4c.149T>A (p.Leu50Gln)
c.41T>A (p.Leu14Gln)
c.323T>A (p.Leu108Gln)
c.260T>A (p.Leu87Gln)
n.878T>A
n.905T>A
14g.103100368T>CCA391081183EXOC3L4c.149T>C (p.Leu50Pro)
c.41T>C (p.Leu14Pro)
c.323T>C (p.Leu108Pro)
c.260T>C (p.Leu87Pro)
n.878T>C
n.905T>C
14g.103100368T>GCA391081184EXOC3L4c.149T>G (p.Leu50Arg)
c.41T>G (p.Leu14Arg)
c.323T>G (p.Leu108Arg)
c.260T>G (p.Leu87Arg)
n.878T>G
n.905T>G
 gnomAD v4
14g.103100369G>ACA488193694EXOC3L4c.150G>A (p.Leu50=)
c.42G>A (p.Leu14=)
c.324G>A (p.Leu108=)
c.261G>A (p.Leu87=)
n.879G>A
n.906G>A
14g.103100369G>CCA488193701EXOC3L4c.150G>C (p.Leu50=)
c.42G>C (p.Leu14=)
c.324G>C (p.Leu108=)
c.261G>C (p.Leu87=)
n.879G>C
n.906G>C
 gnomAD v4
14g.103100369G>TCA488193699EXOC3L4c.150G>T (p.Leu50=)
c.42G>T (p.Leu14=)
c.324G>T (p.Leu108=)
c.261G>T (p.Leu87=)
n.879G>T
n.906G>T
14g.103100370G>ACA391081187EXOC3L4c.151G>A (p.Gly51Ser)
c.43G>A (p.Gly15Ser)
c.325G>A (p.Gly109Ser)
c.262G>A (p.Gly88Ser)
n.880G>A
n.907G>A
14g.103100370G>CCA391081189EXOC3L4c.151G>C (p.Gly51Arg)
c.43G>C (p.Gly15Arg)
c.325G>C (p.Gly109Arg)
c.262G>C (p.Gly88Arg)
n.880G>C
n.907G>C
14g.103100370G>TCA391081191EXOC3L4c.151G>T (p.Gly51Cys)
c.43G>T (p.Gly15Cys)
c.325G>T (p.Gly109Cys)
c.262G>T (p.Gly88Cys)
n.880G>T
n.907G>T
14g.103100371G>ACA391081193EXOC3L4c.152G>A (p.Gly51Asp)
c.44G>A (p.Gly15Asp)
c.326G>A (p.Gly109Asp)
c.263G>A (p.Gly88Asp)
n.881G>A
n.908G>A
 gnomAD v4
14g.103100371G>CCA391081197EXOC3L4c.152G>C (p.Gly51Ala)
c.44G>C (p.Gly15Ala)
c.326G>C (p.Gly109Ala)
c.263G>C (p.Gly88Ala)
n.881G>C
n.908G>C
14g.103100371G>TCA391081195EXOC3L4c.152G>T (p.Gly51Val)
c.44G>T (p.Gly15Val)
c.326G>T (p.Gly109Val)
c.263G>T (p.Gly88Val)
n.881G>T
n.908G>T
14g.103100372C>ACA488193704EXOC3L4c.153C>A (p.Gly51=)
c.45C>A (p.Gly15=)
c.327C>A (p.Gly109=)
c.264C>A (p.Gly88=)
n.882C>A
n.909C>A
 gnomAD v4
14g.103100372C=CA2160140028EXOC3L4c.153C= (p.Gly51=)
c.45C= (p.Gly15=)
c.327C= (p.Gly109=)
c.264C= (p.Gly88=)
n.882C=
n.909C=
14g.103100372C>GCA488193707EXOC3L4c.153C>G (p.Gly51=)
c.45C>G (p.Gly15=)
c.327C>G (p.Gly109=)
c.264C>G (p.Gly88=)
n.882C>G
n.909C>G
14g.103100372C>TCA488193710EXOC3L4c.153C>T (p.Gly51=)
c.45C>T (p.Gly15=)
c.327C>T (p.Gly109=)
c.264C>T (p.Gly88=)
n.882C>T
n.909C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100373T>ACA391081199EXOC3L4c.154T>A (p.Ser52Thr)
c.46T>A (p.Ser16Thr)
c.328T>A (p.Ser110Thr)
c.265T>A (p.Ser89Thr)
n.883T>A
n.910T>A
 gnomAD v4
14g.103100373T>CCA391081201EXOC3L4c.154T>C (p.Ser52Pro)
c.46T>C (p.Ser16Pro)
c.328T>C (p.Ser110Pro)
c.265T>C (p.Ser89Pro)
n.883T>C
n.910T>C
14g.103100373T>GCA7361810EXOC3L4c.154T>G (p.Ser52Ala)
c.46T>G (p.Ser16Ala)
c.328T>G (p.Ser110Ala)
c.265T>G (p.Ser89Ala)
n.883T>G
n.910T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100373T=CA2160140029EXOC3L4c.154T= (p.Ser52=)
c.46T= (p.Ser16=)
c.328T= (p.Ser110=)
c.265T= (p.Ser89=)
n.883T=
n.910T=
14g.103100374C>ACA391081204EXOC3L4c.155C>A (p.Ser52Tyr)
c.47C>A (p.Ser16Tyr)
c.329C>A (p.Ser110Tyr)
c.266C>A (p.Ser89Tyr)
n.884C>A
n.911C>A
14g.103100374C>GCA391081207EXOC3L4c.155C>G (p.Ser52Cys)
c.47C>G (p.Ser16Cys)
c.329C>G (p.Ser110Cys)
c.266C>G (p.Ser89Cys)
n.884C>G
n.911C>G
14g.103100374C>TCA391081209EXOC3L4c.155C>T (p.Ser52Phe)
c.47C>T (p.Ser16Phe)
c.329C>T (p.Ser110Phe)
c.266C>T (p.Ser89Phe)
n.884C>T
n.911C>T
14g.103100375C>ACA488193715EXOC3L4c.156C>A (p.Ser52=)
c.48C>A (p.Ser16=)
c.330C>A (p.Ser110=)
c.267C>A (p.Ser89=)
n.885C>A
n.912C>A
14g.103100375C=CA2160140030EXOC3L4c.156C= (p.Ser52=)
c.48C= (p.Ser16=)
c.330C= (p.Ser110=)
c.267C= (p.Ser89=)
n.885C=
n.912C=
14g.103100375C>GCA488193716EXOC3L4c.156C>G (p.Ser52=)
c.48C>G (p.Ser16=)
c.330C>G (p.Ser110=)
c.267C>G (p.Ser89=)
n.885C>G
n.912C>G
 dbSNP
14g.103100375C>TCA488193718EXOC3L4c.156C>T (p.Ser52=)
c.48C>T (p.Ser16=)
c.330C>T (p.Ser110=)
c.267C>T (p.Ser89=)
n.885C>T
n.912C>T
14g.103100376C>ACA391081211EXOC3L4c.157C>A (p.Leu53Met)
c.49C>A (p.Leu17Met)
c.331C>A (p.Leu111Met)
c.268C>A (p.Leu90Met)
n.886C>A
n.913C>A
14g.103100376C>GCA391081213EXOC3L4c.157C>G (p.Leu53Val)
c.49C>G (p.Leu17Val)
c.331C>G (p.Leu111Val)
c.268C>G (p.Leu90Val)
n.886C>G
n.913C>G
14g.103100376C>TCA488193721EXOC3L4c.157C>T (p.Leu53=)
c.49C>T (p.Leu17=)
c.331C>T (p.Leu111=)
c.268C>T (p.Leu90=)
n.886C>T
n.913C>T
 COSMIC
14g.103100377T>ACA391081217EXOC3L4c.158T>A (p.Leu53Gln)
c.50T>A (p.Leu17Gln)
c.332T>A (p.Leu111Gln)
c.269T>A (p.Leu90Gln)
n.887T>A
n.914T>A
14g.103100377T>CCA391081219EXOC3L4c.158T>C (p.Leu53Pro)
c.50T>C (p.Leu17Pro)
c.332T>C (p.Leu111Pro)
c.269T>C (p.Leu90Pro)
n.887T>C
n.914T>C
 dbSNP gnomAD v2 gnomAD v4
14g.103100377T>GCA391081221EXOC3L4c.158T>G (p.Leu53Arg)
c.50T>G (p.Leu17Arg)
c.332T>G (p.Leu111Arg)
c.269T>G (p.Leu90Arg)
n.887T>G
n.914T>G
14g.103100377T=CA2160140031EXOC3L4c.158T= (p.Leu53=)
c.50T= (p.Leu17=)
c.332T= (p.Leu111=)
c.269T= (p.Leu90=)
n.887T=
n.914T=
14g.103100378G>ACA488193725EXOC3L4c.159G>A (p.Leu53=)
c.51G>A (p.Leu17=)
c.333G>A (p.Leu111=)
c.270G>A (p.Leu90=)
n.888G>A
n.915G>A
 COSMIC
14g.103100378G>CCA267170799EXOC3L4c.159G>C (p.Leu53=)
c.51G>C (p.Leu17=)
c.333G>C (p.Leu111=)
c.270G>C (p.Leu90=)
n.888G>C
n.915G>C
 dbSNP
14g.103100378G=CA2160140032EXOC3L4c.159G= (p.Leu53=)
c.51G= (p.Leu17=)
c.333G= (p.Leu111=)
c.270G= (p.Leu90=)
n.888G=
n.915G=
14g.103100378G>TCA488193726EXOC3L4c.159G>T (p.Leu53=)
c.51G>T (p.Leu17=)
c.333G>T (p.Leu111=)
c.270G>T (p.Leu90=)
n.888G>T
n.915G>T
14g.103100379A>CCA488193727EXOC3L4c.160A>C (p.Arg54=)
c.52A>C (p.Arg18=)
c.334A>C (p.Arg112=)
c.271A>C (p.Arg91=)
n.889A>C
n.916A>C
14g.103100379A>GCA391081223EXOC3L4c.160A>G (p.Arg54Gly)
c.52A>G (p.Arg18Gly)
c.334A>G (p.Arg112Gly)
c.271A>G (p.Arg91Gly)
n.889A>G
n.916A>G
14g.103100379A>TCA391081225EXOC3L4c.160A>T (p.Arg54Trp)
c.52A>T (p.Arg18Trp)
c.334A>T (p.Arg112Trp)
c.271A>T (p.Arg91Trp)
n.889A>T
n.916A>T
14g.103100380G>ACA391081227EXOC3L4c.161G>A (p.Arg54Lys)
c.53G>A (p.Arg18Lys)
c.335G>A (p.Arg112Lys)
c.272G>A (p.Arg91Lys)
n.890G>A
n.917G>A
 dbSNP gnomAD v4
14g.103100380G>CCA391081230EXOC3L4c.161G>C (p.Arg54Thr)
c.53G>C (p.Arg18Thr)
c.335G>C (p.Arg112Thr)
c.272G>C (p.Arg91Thr)
n.890G>C
n.917G>C
14g.103100380G=CA2160140033EXOC3L4c.161G= (p.Arg54=)
c.53G= (p.Arg18=)
c.335G= (p.Arg112=)
c.272G= (p.Arg91=)
n.890G=
n.917G=
14g.103100380G>TCA391081229EXOC3L4c.161G>T (p.Arg54Met)
c.53G>T (p.Arg18Met)
c.335G>T (p.Arg112Met)
c.272G>T (p.Arg91Met)
n.890G>T
n.917G>T
14g.103100381G>ACA7361811EXOC3L4c.162G>A (p.Arg54=)
c.54G>A (p.Arg18=)
c.336G>A (p.Arg112=)
c.273G>A (p.Arg91=)
n.891G>A
n.918G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100381G>CCA391081235EXOC3L4c.162G>C (p.Arg54Ser)
c.54G>C (p.Arg18Ser)
c.336G>C (p.Arg112Ser)
c.273G>C (p.Arg91Ser)
n.891G>C
n.918G>C
14g.103100381G=CA2160140034EXOC3L4c.162G= (p.Arg54=)
c.54G= (p.Arg18=)
c.336G= (p.Arg112=)
c.273G= (p.Arg91=)
n.891G=
n.918G=
14g.103100381G>TCA391081233EXOC3L4c.162G>T (p.Arg54Ser)
c.54G>T (p.Arg18Ser)
c.336G>T (p.Arg112Ser)
c.273G>T (p.Arg91Ser)
n.891G>T
n.918G>T
14g.103100382C>ACA391081237EXOC3L4c.163C>A (p.Gln55Lys)
c.55C>A (p.Gln19Lys)
c.337C>A (p.Gln113Lys)
c.274C>A (p.Gln92Lys)
n.892C>A
n.919C>A
14g.103100382C>GCA391081239EXOC3L4c.163C>G (p.Gln55Glu)
c.55C>G (p.Gln19Glu)
c.337C>G (p.Gln113Glu)
c.274C>G (p.Gln92Glu)
n.892C>G
n.919C>G
14g.103100382C>TCA391081241EXOC3L4c.163C>T (p.Gln55Ter)
c.55C>T (p.Gln19Ter)
c.337C>T (p.Gln113Ter)
c.274C>T (p.Gln92Ter)
n.892C>T
n.919C>T
14g.103100383A=CA2160140035EXOC3L4c.164A= (p.Gln55=)
c.56A= (p.Gln19=)
c.338A= (p.Gln113=)
c.275A= (p.Gln92=)
n.893A=
n.920A=
14g.103100383A>CCA391081243EXOC3L4c.164A>C (p.Gln55Pro)
c.56A>C (p.Gln19Pro)
c.338A>C (p.Gln113Pro)
c.275A>C (p.Gln92Pro)
n.893A>C
n.920A>C
14g.103100383A>GCA391081245EXOC3L4c.164A>G (p.Gln55Arg)
c.56A>G (p.Gln19Arg)
c.338A>G (p.Gln113Arg)
c.275A>G (p.Gln92Arg)
n.893A>G
n.920A>G
 dbSNP gnomAD v4
14g.103100383A>TCA391081247EXOC3L4c.164A>T (p.Gln55Leu)
c.56A>T (p.Gln19Leu)
c.338A>T (p.Gln113Leu)
c.275A>T (p.Gln92Leu)
n.893A>T
n.920A>T
14g.103100384G>ACA488193742EXOC3L4c.165G>A (p.Gln55=)
c.57G>A (p.Gln19=)
c.339G>A (p.Gln113=)
c.276G>A (p.Gln92=)
n.894G>A
n.921G>A
14g.103100384G>CCA391081249EXOC3L4c.165G>C (p.Gln55His)
c.57G>C (p.Gln19His)
c.339G>C (p.Gln113His)
c.276G>C (p.Gln92His)
n.894G>C
n.921G>C
14g.103100384G>TCA391081251EXOC3L4c.165G>T (p.Gln55His)
c.57G>T (p.Gln19His)
c.339G>T (p.Gln113His)
c.276G>T (p.Gln92His)
n.894G>T
n.921G>T
14g.103100385G>ACA391081254EXOC3L4c.166G>A (p.Ala56Thr)
c.58G>A (p.Ala20Thr)
c.340G>A (p.Ala114Thr)
c.277G>A (p.Ala93Thr)
n.895G>A
n.922G>A
 gnomAD v4
14g.103100385G>CCA391081255EXOC3L4c.166G>C (p.Ala56Pro)
c.58G>C (p.Ala20Pro)
c.340G>C (p.Ala114Pro)
c.277G>C (p.Ala93Pro)
n.895G>C
n.922G>C
 gnomAD v4
14g.103100385G>TCA391081257EXOC3L4c.166G>T (p.Ala56Ser)
c.58G>T (p.Ala20Ser)
c.340G>T (p.Ala114Ser)
c.277G>T (p.Ala93Ser)
n.895G>T
n.922G>T
14g.103100386C>ACA391081264EXOC3L4c.167C>A (p.Ala56Asp)
c.59C>A (p.Ala20Asp)
c.341C>A (p.Ala114Asp)
c.278C>A (p.Ala93Asp)
n.896C>A
n.923C>A
14g.103100386C=CA2160140036EXOC3L4c.167C= (p.Ala56=)
c.59C= (p.Ala20=)
c.341C= (p.Ala114=)
c.278C= (p.Ala93=)
n.896C=
n.923C=
14g.103100386C>GCA391081261EXOC3L4c.167C>G (p.Ala56Gly)
c.59C>G (p.Ala20Gly)
c.341C>G (p.Ala114Gly)
c.278C>G (p.Ala93Gly)
n.896C>G
n.923C>G
 gnomAD v4
14g.103100386C>TCA391081260EXOC3L4c.167C>T (p.Ala56Val)
c.59C>T (p.Ala20Val)
c.341C>T (p.Ala114Val)
c.278C>T (p.Ala93Val)
n.896C>T
n.923C>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100387_103100403delCA645582098EXOC3L4c.168_184del (p.Phe57AlafsTer?)
c.60_76del (p.Phe21AlafsTer?)
c.342_358del (p.Phe115AlafsTer?)
c.279_295del (p.Phe94AlafsTer?)
n.897_913del
n.924_940del
 COSMIC
14g.103100387C>ACA488193751EXOC3L4c.168C>A (p.Ala56=)
c.60C>A (p.Ala20=)
c.342C>A (p.Ala114=)
c.279C>A (p.Ala93=)
n.897C>A
n.924C>A
14g.103100387C>GCA488193754EXOC3L4c.168C>G (p.Ala56=)
c.60C>G (p.Ala20=)
c.342C>G (p.Ala114=)
c.279C>G (p.Ala93=)
n.897C>G
n.924C>G
14g.103100387C>TCA488193759EXOC3L4c.168C>T (p.Ala56=)
c.60C>T (p.Ala20=)
c.342C>T (p.Ala114=)
c.279C>T (p.Ala93=)
n.897C>T
n.924C>T
14g.103100389_103100391delCA2626692200EXOC3L4c.170_172del (p.Phe57del)
c.62_64del (p.Phe21del)
c.344_346del (p.Phe115del)
c.281_283del (p.Phe94del)
n.899_901del
n.926_928del
 gnomAD v4
14g.103100388T>ACA391081266EXOC3L4c.169T>A (p.Phe57Ile)
c.61T>A (p.Phe21Ile)
c.343T>A (p.Phe115Ile)
c.280T>A (p.Phe94Ile)
n.898T>A
n.925T>A
14g.103100388T>CCA391081268EXOC3L4c.169T>C (p.Phe57Leu)
c.61T>C (p.Phe21Leu)
c.343T>C (p.Phe115Leu)
c.280T>C (p.Phe94Leu)
n.898T>C
n.925T>C
14g.103100388T>GCA391081270EXOC3L4c.169T>G (p.Phe57Val)
c.61T>G (p.Phe21Val)
c.343T>G (p.Phe115Val)
c.280T>G (p.Phe94Val)
n.898T>G
n.925T>G
14g.103100389T>ACA391081272EXOC3L4c.170T>A (p.Phe57Tyr)
c.62T>A (p.Phe21Tyr)
c.344T>A (p.Phe115Tyr)
c.281T>A (p.Phe94Tyr)
n.899T>A
n.926T>A
14g.103100389T>CCA391081273EXOC3L4c.170T>C (p.Phe57Ser)
c.62T>C (p.Phe21Ser)
c.344T>C (p.Phe115Ser)
c.281T>C (p.Phe94Ser)
n.899T>C
n.926T>C
 COSMIC
14g.103100389T>GCA391081275EXOC3L4c.170T>G (p.Phe57Cys)
c.62T>G (p.Phe21Cys)
c.344T>G (p.Phe115Cys)
c.281T>G (p.Phe94Cys)
n.899T>G
n.926T>G
14g.103100390C>ACA391081277EXOC3L4c.171C>A (p.Phe57Leu)
c.63C>A (p.Phe21Leu)
c.345C>A (p.Phe115Leu)
c.282C>A (p.Phe94Leu)
n.900C>A
n.927C>A
14g.103100390C=CA2160140037EXOC3L4c.171C= (p.Phe57=)
c.63C= (p.Phe21=)
c.345C= (p.Phe115=)
c.282C= (p.Phe94=)
n.900C=
n.927C=
14g.103100390C>GCA391081280EXOC3L4c.171C>G (p.Phe57Leu)
c.63C>G (p.Phe21Leu)
c.345C>G (p.Phe115Leu)
c.282C>G (p.Phe94Leu)
n.900C>G
n.927C>G
14g.103100390C>TCA488193764EXOC3L4c.171C>T (p.Phe57=)
c.63C>T (p.Phe21=)
c.345C>T (p.Phe115=)
c.282C>T (p.Phe94=)
n.900C>T
n.927C>T
 dbSNP gnomAD v3 gnomAD v4
14g.103100391T>ACA391081282EXOC3L4c.172T>A (p.Ser58Thr)
c.64T>A (p.Ser22Thr)
c.346T>A (p.Ser116Thr)
c.283T>A (p.Ser95Thr)
n.901T>A
n.928T>A
14g.103100391T>CCA391081284EXOC3L4c.172T>C (p.Ser58Pro)
c.64T>C (p.Ser22Pro)
c.346T>C (p.Ser116Pro)
c.283T>C (p.Ser95Pro)
n.901T>C
n.928T>C
14g.103100391T>GCA391081285EXOC3L4c.172T>G (p.Ser58Ala)
c.64T>G (p.Ser22Ala)
c.346T>G (p.Ser116Ala)
c.283T>G (p.Ser95Ala)
n.901T>G
n.928T>G
14g.103100392C>ACA391081290EXOC3L4c.173C>A (p.Ser58Tyr)
c.65C>A (p.Ser22Tyr)
c.347C>A (p.Ser116Tyr)
c.284C>A (p.Ser95Tyr)
n.902C>A
n.929C>A
14g.103100392C=CA2160140038EXOC3L4c.173C= (p.Ser58=)
c.65C= (p.Ser22=)
c.347C= (p.Ser116=)
c.284C= (p.Ser95=)
n.902C=
n.929C=
14g.103100392C>GCA391081289EXOC3L4c.173C>G (p.Ser58Cys)
c.65C>G (p.Ser22Cys)
c.347C>G (p.Ser116Cys)
c.284C>G (p.Ser95Cys)
n.902C>G
n.929C>G
14g.103100392C>TCA391081287EXOC3L4c.173C>T (p.Ser58Phe)
c.65C>T (p.Ser22Phe)
c.347C>T (p.Ser116Phe)
c.284C>T (p.Ser95Phe)
n.902C>T
n.929C>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100393C>ACA488193766EXOC3L4c.174C>A (p.Ser58=)
c.66C>A (p.Ser22=)
c.348C>A (p.Ser116=)
c.285C>A (p.Ser95=)
n.903C>A
n.930C>A
14g.103100393C=CA2160140039EXOC3L4c.174C= (p.Ser58=)
c.66C= (p.Ser22=)
c.348C= (p.Ser116=)
c.285C= (p.Ser95=)
n.903C=
n.930C=
14g.103100393C>GCA488193767EXOC3L4c.174C>G (p.Ser58=)
c.66C>G (p.Ser22=)
c.348C>G (p.Ser116=)
c.285C>G (p.Ser95=)
n.903C>G
n.930C>G
14g.103100393C>TCA488193768EXOC3L4c.174C>T (p.Ser58=)
c.66C>T (p.Ser22=)
c.348C>T (p.Ser116=)
c.285C>T (p.Ser95=)
n.903C>T
n.930C>T
 dbSNP gnomAD v3 gnomAD v4
14g.103100394C>ACA7361812EXOC3L4c.175C>A (p.Arg59=)
c.67C>A (p.Arg23=)
c.349C>A (p.Arg117=)
c.286C>A (p.Arg96=)
n.904C>A
n.931C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100394C=CA2160140040EXOC3L4c.175C= (p.Arg59=)
c.67C= (p.Arg23=)
c.349C= (p.Arg117=)
c.286C= (p.Arg96=)
n.904C=
n.931C=
14g.103100394C>GCA391081294EXOC3L4c.175C>G (p.Arg59Gly)
c.67C>G (p.Arg23Gly)
c.349C>G (p.Arg117Gly)
c.286C>G (p.Arg96Gly)
n.904C>G
n.931C>G
14g.103100394C>TCA7361813EXOC3L4c.175C>T (p.Arg59Trp)
c.67C>T (p.Arg23Trp)
c.349C>T (p.Arg117Trp)
c.286C>T (p.Arg96Trp)
n.904C>T
n.931C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.103100395G>ACA7361814EXOC3L4c.176G>A (p.Arg59Gln)
c.68G>A (p.Arg23Gln)
c.350G>A (p.Arg117Gln)
c.287G>A (p.Arg96Gln)
n.905G>A
n.932G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100395G>CCA391081298EXOC3L4c.176G>C (p.Arg59Pro)
c.68G>C (p.Arg23Pro)
c.350G>C (p.Arg117Pro)
c.287G>C (p.Arg96Pro)
n.905G>C
n.932G>C
 dbSNP gnomAD v2 gnomAD v4
14g.103100395G=CA2160140041EXOC3L4c.176G= (p.Arg59=)
c.68G= (p.Arg23=)
c.350G= (p.Arg117=)
c.287G= (p.Arg96=)
n.905G=
n.932G=
14g.103100395G>TCA267170820EXOC3L4c.176G>T (p.Arg59Leu)
c.68G>T (p.Arg23Leu)
c.350G>T (p.Arg117Leu)
c.287G>T (p.Arg96Leu)
n.905G>T
n.932G>T
 dbSNP gnomAD v3 gnomAD v4
14g.103100396G>ACA488193771EXOC3L4c.177G>A (p.Arg59=)
c.69G>A (p.Arg23=)
c.351G>A (p.Arg117=)
c.288G>A (p.Arg96=)
n.906G>A
n.933G>A
14g.103100396G>CCA488193772EXOC3L4c.177G>C (p.Arg59=)
c.69G>C (p.Arg23=)
c.351G>C (p.Arg117=)
c.288G>C (p.Arg96=)
n.906G>C
n.933G>C
14g.103100396G>TCA488193773EXOC3L4c.177G>T (p.Arg59=)
c.69G>T (p.Arg23=)
c.351G>T (p.Arg117=)
c.288G>T (p.Arg96=)
n.906G>T
n.933G>T
14g.103100397G>ACA391081302EXOC3L4c.178G>A (p.Ala60Thr)
c.70G>A (p.Ala24Thr)
c.352G>A (p.Ala118Thr)
c.289G>A (p.Ala97Thr)
n.907G>A
n.934G>A
14g.103100397G>CCA391081304EXOC3L4c.178G>C (p.Ala60Pro)
c.70G>C (p.Ala24Pro)
c.352G>C (p.Ala118Pro)
c.289G>C (p.Ala97Pro)
n.907G>C
n.934G>C
14g.103100397G>TCA391081305EXOC3L4c.178G>T (p.Ala60Ser)
c.70G>T (p.Ala24Ser)
c.352G>T (p.Ala118Ser)
c.289G>T (p.Ala97Ser)
n.907G>T
n.934G>T
14g.103100398C>ACA391081308EXOC3L4c.179C>A (p.Ala60Asp)
c.71C>A (p.Ala24Asp)
c.353C>A (p.Ala118Asp)
c.290C>A (p.Ala97Asp)
n.908C>A
n.935C>A
14g.103100398C>GCA391081310EXOC3L4c.179C>G (p.Ala60Gly)
c.71C>G (p.Ala24Gly)
c.353C>G (p.Ala118Gly)
c.290C>G (p.Ala97Gly)
n.908C>G
n.935C>G
14g.103100398C>TCA391081312EXOC3L4c.179C>T (p.Ala60Val)
c.71C>T (p.Ala24Val)
c.353C>T (p.Ala118Val)
c.290C>T (p.Ala97Val)
n.908C>T
n.935C>T
14g.103100399C>ACA488193780EXOC3L4c.180C>A (p.Ala60=)
c.72C>A (p.Ala24=)
c.354C>A (p.Ala118=)
c.291C>A (p.Ala97=)
n.909C>A
n.936C>A
14g.103100399C>GCA488193781EXOC3L4c.180C>G (p.Ala60=)
c.72C>G (p.Ala24=)
c.354C>G (p.Ala118=)
c.291C>G (p.Ala97=)
n.909C>G
n.936C>G
14g.103100399C>TCA488193779EXOC3L4c.180C>T (p.Ala60=)
c.72C>T (p.Ala24=)
c.354C>T (p.Ala118=)
c.291C>T (p.Ala97=)
n.909C>T
n.936C>T
 gnomAD v4
14g.103100400A=CA2160140042EXOC3L4c.181A= (p.Ser61=)
c.73A= (p.Ser25=)
c.355A= (p.Ser119=)
c.292A= (p.Ser98=)
n.910A=
n.937A=
14g.103100400A>CCA391081325EXOC3L4c.181A>C (p.Ser61Arg)
c.73A>C (p.Ser25Arg)
c.355A>C (p.Ser119Arg)
c.292A>C (p.Ser98Arg)
n.910A>C
n.937A>C
14g.103100400A>GCA391081322EXOC3L4c.181A>G (p.Ser61Gly)
c.73A>G (p.Ser25Gly)
c.355A>G (p.Ser119Gly)
c.292A>G (p.Ser98Gly)
n.910A>G
n.937A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100400A>TCA391081315EXOC3L4c.181A>T (p.Ser61Cys)
c.73A>T (p.Ser25Cys)
c.355A>T (p.Ser119Cys)
c.292A>T (p.Ser98Cys)
n.910A>T
n.937A>T
14g.103100401G>ACA391081327EXOC3L4c.182G>A (p.Ser61Asn)
c.74G>A (p.Ser25Asn)
c.356G>A (p.Ser119Asn)
c.293G>A (p.Ser98Asn)
n.911G>A
n.938G>A
 dbSNP gnomAD v3 gnomAD v4
14g.103100401G>CCA391081330EXOC3L4c.182G>C (p.Ser61Thr)
c.74G>C (p.Ser25Thr)
c.356G>C (p.Ser119Thr)
c.293G>C (p.Ser98Thr)
n.911G>C
n.938G>C
 gnomAD v4
14g.103100401G=CA2160140043EXOC3L4c.182G= (p.Ser61=)
c.74G= (p.Ser25=)
c.356G= (p.Ser119=)
c.293G= (p.Ser98=)
n.911G=
n.938G=
14g.103100401G>TCA391081332EXOC3L4c.182G>T (p.Ser61Ile)
c.74G>T (p.Ser25Ile)
c.356G>T (p.Ser119Ile)
c.293G>T (p.Ser98Ile)
n.911G>T
n.938G>T
14g.103100402C>ACA391081335EXOC3L4c.183C>A (p.Ser61Arg)
c.75C>A (p.Ser25Arg)
c.357C>A (p.Ser119Arg)
c.294C>A (p.Ser98Arg)
n.912C>A
n.939C>A
14g.103100402C>GCA391081336EXOC3L4c.183C>G (p.Ser61Arg)
c.75C>G (p.Ser25Arg)
c.357C>G (p.Ser119Arg)
c.294C>G (p.Ser98Arg)
n.912C>G
n.939C>G
14g.103100402C>TCA488193791EXOC3L4c.183C>T (p.Ser61=)
c.75C>T (p.Ser25=)
c.357C>T (p.Ser119=)
c.294C>T (p.Ser98=)
n.912C>T
n.939C>T
14g.103100403C>ACA7361815EXOC3L4c.184C>A (p.Gln62Lys)
c.76C>A (p.Gln26Lys)
c.358C>A (p.Gln120Lys)
c.295C>A (p.Gln99Lys)
n.913C>A
n.940C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100403C=CA2160140044EXOC3L4c.184C= (p.Gln62=)
c.76C= (p.Gln26=)
c.358C= (p.Gln120=)
c.295C= (p.Gln99=)
n.913C=
n.940C=
14g.103100403C>GCA391081341EXOC3L4c.184C>G (p.Gln62Glu)
c.76C>G (p.Gln26Glu)
c.358C>G (p.Gln120Glu)
c.295C>G (p.Gln99Glu)
n.913C>G
n.940C>G
14g.103100403C>TCA391081343EXOC3L4c.184C>T (p.Gln62Ter)
c.76C>T (p.Gln26Ter)
c.358C>T (p.Gln120Ter)
c.295C>T (p.Gln99Ter)
n.913C>T
n.940C>T
14g.103100404A>CCA391081346EXOC3L4c.185A>C (p.Gln62Pro)
c.77A>C (p.Gln26Pro)
c.359A>C (p.Gln120Pro)
c.296A>C (p.Gln99Pro)
n.914A>C
n.941A>C
14g.103100404A>GCA391081348EXOC3L4c.185A>G (p.Gln62Arg)
c.77A>G (p.Gln26Arg)
c.359A>G (p.Gln120Arg)
c.296A>G (p.Gln99Arg)
n.914A>G
n.941A>G
14g.103100404A>TCA391081356EXOC3L4c.185A>T (p.Gln62Leu)
c.77A>T (p.Gln26Leu)
c.359A>T (p.Gln120Leu)
c.296A>T (p.Gln99Leu)
n.914A>T
n.941A>T
14g.103100404_103100408delCA2575632688EXOC3L4c.185_189del (p.Gln62ArgfsTer30)
c.77_81del (p.Gln26ArgfsTer30)
c.359_363del (p.Gln120ArgfsTer30)
c.296_300del (p.Gln99ArgfsTer30)
n.914_918del
n.941_945del
14g.103100405G>ACA488193798EXOC3L4c.186G>A (p.Gln62=)
c.78G>A (p.Gln26=)
c.360G>A (p.Gln120=)
c.297G>A (p.Gln99=)
n.915G>A
n.942G>A
14g.103100405G>CCA391081358EXOC3L4c.186G>C (p.Gln62His)
c.78G>C (p.Gln26His)
c.360G>C (p.Gln120His)
c.297G>C (p.Gln99His)
n.915G>C
n.942G>C
14g.103100405G=CA2160140045EXOC3L4c.186G= (p.Gln62=)
c.78G= (p.Gln26=)
c.360G= (p.Gln120=)
c.297G= (p.Gln99=)
n.915G=
n.942G=
14g.103100405G>TCA391081360EXOC3L4c.186G>T (p.Gln62His)
c.78G>T (p.Gln26His)
c.360G>T (p.Gln120His)
c.297G>T (p.Gln99His)
n.915G>T
n.942G>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100406C>ACA488193800EXOC3L4c.187C>A (p.Arg63=)
c.79C>A (p.Arg27=)
c.361C>A (p.Arg121=)
c.298C>A (p.Arg100=)
n.916C>A
n.943C>A
14g.103100406C=CA2160140046EXOC3L4c.187C= (p.Arg63=)
c.79C= (p.Arg27=)
c.361C= (p.Arg121=)
c.298C= (p.Arg100=)
n.916C=
n.943C=
14g.103100406C>GCA391081362EXOC3L4c.187C>G (p.Arg63Gly)
c.79C>G (p.Arg27Gly)
c.361C>G (p.Arg121Gly)
c.298C>G (p.Arg100Gly)
n.916C>G
n.943C>G
14g.103100406C>TCA7361816EXOC3L4c.187C>T (p.Arg63Trp)
c.79C>T (p.Arg27Trp)
c.361C>T (p.Arg121Trp)
c.298C>T (p.Arg100Trp)
n.916C>T
n.943C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100407G>ACA7361817EXOC3L4c.188G>A (p.Arg63Gln)
c.80G>A (p.Arg27Gln)
c.362G>A (p.Arg121Gln)
c.299G>A (p.Arg100Gln)
n.917G>A
n.944G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100407G>CCA391081367EXOC3L4c.188G>C (p.Arg63Pro)
c.80G>C (p.Arg27Pro)
c.362G>C (p.Arg121Pro)
c.299G>C (p.Arg100Pro)
n.917G>C
n.944G>C
 gnomAD v4
14g.103100407G=CA2160140047EXOC3L4c.188G= (p.Arg63=)
c.80G= (p.Arg27=)
c.362G= (p.Arg121=)
c.299G= (p.Arg100=)
n.917G=
n.944G=
14g.103100407G>TCA391081370EXOC3L4c.188G>T (p.Arg63Leu)
c.80G>T (p.Arg27Leu)
c.362G>T (p.Arg121Leu)
c.299G>T (p.Arg100Leu)
n.917G>T
n.944G>T
 gnomAD v4
14g.103100408G>ACA488193802EXOC3L4c.189G>A (p.Arg63=)
c.81G>A (p.Arg27=)
c.363G>A (p.Arg121=)
c.300G>A (p.Arg100=)
n.918G>A
n.945G>A
14g.103100408G>CCA488193804EXOC3L4c.189G>C (p.Arg63=)
c.81G>C (p.Arg27=)
c.363G>C (p.Arg121=)
c.300G>C (p.Arg100=)
n.918G>C
n.945G>C
14g.103100408G>TCA488193805EXOC3L4c.189G>T (p.Arg63=)
c.81G>T (p.Arg27=)
c.363G>T (p.Arg121=)
c.300G>T (p.Arg100=)
n.918G>T
n.945G>T
14g.103100409G>ACA391081375EXOC3L4c.190G>A (p.Ala64Thr)
c.82G>A (p.Ala28Thr)
c.364G>A (p.Ala122Thr)
c.301G>A (p.Ala101Thr)
n.919G>A
n.946G>A
14g.103100409G>CCA391081377EXOC3L4c.190G>C (p.Ala64Pro)
c.82G>C (p.Ala28Pro)
c.364G>C (p.Ala122Pro)
c.301G>C (p.Ala101Pro)
n.919G>C
n.946G>C
14g.103100409G>TCA391081381EXOC3L4c.190G>T (p.Ala64Ser)
c.82G>T (p.Ala28Ser)
c.364G>T (p.Ala122Ser)
c.301G>T (p.Ala101Ser)
n.919G>T
n.946G>T
 gnomAD v4
14g.103100410C>ACA391081383EXOC3L4c.191C>A (p.Ala64Asp)
c.83C>A (p.Ala28Asp)
c.365C>A (p.Ala122Asp)
c.302C>A (p.Ala101Asp)
n.920C>A
n.947C>A
14g.103100410C=CA2160140048EXOC3L4c.191C= (p.Ala64=)
c.83C= (p.Ala28=)
c.365C= (p.Ala122=)
c.302C= (p.Ala101=)
n.920C=
n.947C=
14g.103100410C>GCA391081385EXOC3L4c.191C>G (p.Ala64Gly)
c.83C>G (p.Ala28Gly)
c.365C>G (p.Ala122Gly)
c.302C>G (p.Ala101Gly)
n.920C>G
n.947C>G
14g.103100410C>TCA391081386EXOC3L4c.191C>T (p.Ala64Val)
c.83C>T (p.Ala28Val)
c.365C>T (p.Ala122Val)
c.302C>T (p.Ala101Val)
n.920C>T
n.947C>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100411T>ACA488193806EXOC3L4c.192T>A (p.Ala64=)
c.84T>A (p.Ala28=)
c.366T>A (p.Ala122=)
c.303T>A (p.Ala101=)
n.921T>A
n.948T>A
14g.103100411T>CCA488193807EXOC3L4c.192T>C (p.Ala64=)
c.84T>C (p.Ala28=)
c.366T>C (p.Ala122=)
c.303T>C (p.Ala101=)
n.921T>C
n.948T>C
14g.103100411T>GCA488193808EXOC3L4c.192T>G (p.Ala64=)
c.84T>G (p.Ala28=)
c.366T>G (p.Ala122=)
c.303T>G (p.Ala101=)
n.921T>G
n.948T>G
14g.103100412T>ACA391081390EXOC3L4c.193T>A (p.Leu65Met)
c.85T>A (p.Leu29Met)
c.367T>A (p.Leu123Met)
c.304T>A (p.Leu102Met)
n.922T>A
n.949T>A
14g.103100412T>CCA488193809EXOC3L4c.193T>C (p.Leu65=)
c.85T>C (p.Leu29=)
c.367T>C (p.Leu123=)
c.304T>C (p.Leu102=)
n.922T>C
n.949T>C
14g.103100412T>GCA391081393EXOC3L4c.193T>G (p.Leu65Val)
c.85T>G (p.Leu29Val)
c.367T>G (p.Leu123Val)
c.304T>G (p.Leu102Val)
n.922T>G
n.949T>G
14g.103100413T>ACA391081397EXOC3L4c.194T>A (p.Leu65Ter)
c.86T>A (p.Leu29Ter)
c.368T>A (p.Leu123Ter)
c.305T>A (p.Leu102Ter)
n.923T>A
n.950T>A
14g.103100413T>CCA391081400EXOC3L4c.194T>C (p.Leu65Ser)
c.86T>C (p.Leu29Ser)
c.368T>C (p.Leu123Ser)
c.305T>C (p.Leu102Ser)
n.923T>C
n.950T>C
14g.103100413T>GCA391081402EXOC3L4c.194T>G (p.Leu65Trp)
c.86T>G (p.Leu29Trp)
c.368T>G (p.Leu123Trp)
c.305T>G (p.Leu102Trp)
n.923T>G
n.950T>G
14g.103100414G>ACA488193813EXOC3L4c.195G>A (p.Leu65=)
c.87G>A (p.Leu29=)
c.369G>A (p.Leu123=)
c.306G>A (p.Leu102=)
n.924G>A
n.951G>A
14g.103100414G>CCA391081408EXOC3L4c.195G>C (p.Leu65Phe)
c.87G>C (p.Leu29Phe)
c.369G>C (p.Leu123Phe)
c.306G>C (p.Leu102Phe)
n.924G>C
n.951G>C
14g.103100414G>TCA391081405EXOC3L4c.195G>T (p.Leu65Phe)
c.87G>T (p.Leu29Phe)
c.369G>T (p.Leu123Phe)
c.306G>T (p.Leu102Phe)
n.924G>T
n.951G>T
14g.103100415A>CCA391081411EXOC3L4c.196A>C (p.Thr66Pro)
c.88A>C (p.Thr30Pro)
c.370A>C (p.Thr124Pro)
c.307A>C (p.Thr103Pro)
n.925A>C
n.952A>C
 dbSNP
14g.103100415A>GCA391081413EXOC3L4c.196A>G (p.Thr66Ala)
c.88A>G (p.Thr30Ala)
c.370A>G (p.Thr124Ala)
c.307A>G (p.Thr103Ala)
n.925A>G
n.952A>G
14g.103100415A>TCA391081416EXOC3L4c.196A>T (p.Thr66Ser)
c.88A>T (p.Thr30Ser)
c.370A>T (p.Thr124Ser)
c.307A>T (p.Thr103Ser)
n.925A>T
n.952A>T
14g.103100416C>ACA391081417EXOC3L4c.197C>A (p.Thr66Asn)
c.89C>A (p.Thr30Asn)
c.371C>A (p.Thr124Asn)
c.308C>A (p.Thr103Asn)
n.926C>A
n.953C>A
14g.103100416C>GCA391081418EXOC3L4c.197C>G (p.Thr66Ser)
c.89C>G (p.Thr30Ser)
c.371C>G (p.Thr124Ser)
c.308C>G (p.Thr103Ser)
n.926C>G
n.953C>G
 gnomAD v4
14g.103100416C>TCA391081419EXOC3L4c.197C>T (p.Thr66Ile)
c.89C>T (p.Thr30Ile)
c.371C>T (p.Thr124Ile)
c.308C>T (p.Thr103Ile)
n.926C>T
n.953C>T
 gnomAD v4
14g.103100417C>ACA488193817EXOC3L4c.198C>A (p.Thr66=)
c.90C>A (p.Thr30=)
c.372C>A (p.Thr124=)
c.309C>A (p.Thr103=)
n.927C>A
n.954C>A
14g.103100417C>GCA488193818EXOC3L4c.198C>G (p.Thr66=)
c.90C>G (p.Thr30=)
c.372C>G (p.Thr124=)
c.309C>G (p.Thr103=)
n.927C>G
n.954C>G
14g.103100417C>TCA488193820EXOC3L4c.198C>T (p.Thr66=)
c.90C>T (p.Thr30=)
c.372C>T (p.Thr124=)
c.309C>T (p.Thr103=)
n.927C>T
n.954C>T
14g.103100418C>ACA391081428EXOC3L4c.199C>A (p.Gln67Lys)
c.91C>A (p.Gln31Lys)
c.373C>A (p.Gln125Lys)
c.310C>A (p.Gln104Lys)
n.928C>A
n.955C>A
 gnomAD v4
14g.103100418C=CA2160140049EXOC3L4c.199C= (p.Gln67=)
c.91C= (p.Gln31=)
c.373C= (p.Gln125=)
c.310C= (p.Gln104=)
n.928C=
n.955C=
14g.103100418C>GCA391081421EXOC3L4c.199C>G (p.Gln67Glu)
c.91C>G (p.Gln31Glu)
c.373C>G (p.Gln125Glu)
c.310C>G (p.Gln104Glu)
n.928C>G
n.955C>G
 dbSNP gnomAD v4
14g.103100418C>TCA391081423EXOC3L4c.199C>T (p.Gln67Ter)
c.91C>T (p.Gln31Ter)
c.373C>T (p.Gln125Ter)
c.310C>T (p.Gln104Ter)
n.928C>T
n.955C>T
14g.103100419delCA2626692202EXOC3L4c.200del (p.Gln67ArgfsTer25)
c.92del (p.Gln31ArgfsTer25)
c.374del (p.Gln125ArgfsTer25)
c.311del (p.Gln104ArgfsTer25)
n.929del
n.956del
 gnomAD v4
14g.103100419A=CA2160140050EXOC3L4c.200A= (p.Gln67=)
c.92A= (p.Gln31=)
c.374A= (p.Gln125=)
c.311A= (p.Gln104=)
n.929A=
n.956A=
14g.103100419A>CCA391081431EXOC3L4c.200A>C (p.Gln67Pro)
c.92A>C (p.Gln31Pro)
c.374A>C (p.Gln125Pro)
c.311A>C (p.Gln104Pro)
n.929A>C
n.956A>C
 dbSNP gnomAD v2 gnomAD v4
14g.103100419A>GCA391081434EXOC3L4c.200A>G (p.Gln67Arg)
c.92A>G (p.Gln31Arg)
c.374A>G (p.Gln125Arg)
c.311A>G (p.Gln104Arg)
n.929A>G
n.956A>G
14g.103100419A>TCA391081437EXOC3L4c.200A>T (p.Gln67Leu)
c.92A>T (p.Gln31Leu)
c.374A>T (p.Gln125Leu)
c.311A>T (p.Gln104Leu)
n.929A>T
n.956A>T
14g.103100420G>ACA488193827EXOC3L4c.201G>A (p.Gln67=)
c.93G>A (p.Gln31=)
c.375G>A (p.Gln125=)
c.312G>A (p.Gln104=)
n.930G>A
n.957G>A
 gnomAD v4
14g.103100420G>CCA391081442EXOC3L4c.201G>C (p.Gln67His)
c.93G>C (p.Gln31His)
c.375G>C (p.Gln125His)
c.312G>C (p.Gln104His)
n.930G>C
n.957G>C
14g.103100420G>TCA391081445EXOC3L4c.201G>T (p.Gln67His)
c.93G>T (p.Gln31His)
c.375G>T (p.Gln125His)
c.312G>T (p.Gln104His)
n.930G>T
n.957G>T
14g.103100421G>ACA391081448EXOC3L4c.202G>A (p.Val68Ile)
c.94G>A (p.Val32Ile)
c.376G>A (p.Val126Ile)
c.313G>A (p.Val105Ile)
n.931G>A
n.958G>A
14g.103100421G>CCA391081453EXOC3L4c.202G>C (p.Val68Leu)
c.94G>C (p.Val32Leu)
c.376G>C (p.Val126Leu)
c.313G>C (p.Val105Leu)
n.931G>C
n.958G>C
14g.103100421G>TCA391081450EXOC3L4c.202G>T (p.Val68Phe)
c.94G>T (p.Val32Phe)
c.376G>T (p.Val126Phe)
c.313G>T (p.Val105Phe)
n.931G>T
n.958G>T
14g.103100422T>ACA391081456EXOC3L4c.203T>A (p.Val68Asp)
c.95T>A (p.Val32Asp)
c.377T>A (p.Val126Asp)
c.314T>A (p.Val105Asp)
n.932T>A
n.959T>A
14g.103100422T>CCA391081457EXOC3L4c.203T>C (p.Val68Ala)
c.95T>C (p.Val32Ala)
c.377T>C (p.Val126Ala)
c.314T>C (p.Val105Ala)
n.932T>C
n.959T>C
14g.103100422T>GCA391081458EXOC3L4c.203T>G (p.Val68Gly)
c.95T>G (p.Val32Gly)
c.377T>G (p.Val126Gly)
c.314T>G (p.Val105Gly)
n.932T>G
n.959T>G
14g.103100423C>ACA488193830EXOC3L4c.204C>A (p.Val68=)
c.96C>A (p.Val32=)
c.378C>A (p.Val126=)
c.315C>A (p.Val105=)
n.933C>A
n.960C>A
 gnomAD v4
14g.103100423C=CA2160140051EXOC3L4c.204C= (p.Val68=)
c.96C= (p.Val32=)
c.378C= (p.Val126=)
c.315C= (p.Val105=)
n.933C=
n.960C=
14g.103100423C>GCA7361818EXOC3L4c.204C>G (p.Val68=)
c.96C>G (p.Val32=)
c.378C>G (p.Val126=)
c.315C>G (p.Val105=)
n.933C>G
n.960C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100423C>TCA488193833EXOC3L4c.204C>T (p.Val68=)
c.96C>T (p.Val32=)
c.378C>T (p.Val126=)
c.315C>T (p.Val105=)
n.933C>T
n.960C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100424T>ACA391081461EXOC3L4c.205T>A (p.Ser69Thr)
c.97T>A (p.Ser33Thr)
c.379T>A (p.Ser127Thr)
c.316T>A (p.Ser106Thr)
n.934T>A
n.961T>A
14g.103100424T>CCA391081463EXOC3L4c.205T>C (p.Ser69Pro)
c.97T>C (p.Ser33Pro)
c.379T>C (p.Ser127Pro)
c.316T>C (p.Ser106Pro)
n.934T>C
n.961T>C
 gnomAD v4
14g.103100424T>GCA391081466EXOC3L4c.205T>G (p.Ser69Ala)
c.97T>G (p.Ser33Ala)
c.379T>G (p.Ser127Ala)
c.316T>G (p.Ser106Ala)
n.934T>G
n.961T>G
14g.103100424T=CA2160140052EXOC3L4c.205T= (p.Ser69=)
c.97T= (p.Ser33=)
c.379T= (p.Ser127=)
c.316T= (p.Ser106=)
n.934T=
n.961T=
14g.103100425C>ACA391081470EXOC3L4c.206C>A (p.Ser69Tyr)
c.98C>A (p.Ser33Tyr)
c.380C>A (p.Ser127Tyr)
c.317C>A (p.Ser106Tyr)
n.935C>A
n.962C>A
14g.103100425C=CA2160140054EXOC3L4c.206C= (p.Ser69=)
c.98C= (p.Ser33=)
c.380C= (p.Ser127=)
c.317C= (p.Ser106=)
n.935C=
n.962C=
14g.103100425C>GCA391081473EXOC3L4c.206C>G (p.Ser69Cys)
c.98C>G (p.Ser33Cys)
c.380C>G (p.Ser127Cys)
c.317C>G (p.Ser106Cys)
n.935C>G
n.962C>G
14g.103100425C>TCA391081476EXOC3L4c.206C>T (p.Ser69Phe)
c.98C>T (p.Ser33Phe)
c.380C>T (p.Ser127Phe)
c.317C>T (p.Ser106Phe)
n.935C>T
n.962C>T
 dbSNP gnomAD v2
14g.103100426_103100427insCTTTGACCCA2160140053EXOC3L4c.207_208insCTTTGACC (p.Lys70LeufsTer2)
c.99_100insCTTTGACC (p.Lys34LeufsTer2)
c.381_382insCTTTGACC (p.Lys128LeufsTer2)
c.318_319insCTTTGACC (p.Lys107LeufsTer2)
n.936_937insCTTTGACC
n.963_964insCTTTGACC
 dbSNP
14g.103100426C>ACA488193840EXOC3L4c.207C>A (p.Ser69=)
c.99C>A (p.Ser33=)
c.381C>A (p.Ser127=)
c.318C>A (p.Ser106=)
n.936C>A
n.963C>A
14g.103100426C=CA2160140055EXOC3L4c.207C= (p.Ser69=)
c.99C= (p.Ser33=)
c.381C= (p.Ser127=)
c.318C= (p.Ser106=)
n.936C=
n.963C=
14g.103100426C>GCA488193843EXOC3L4c.207C>G (p.Ser69=)
c.99C>G (p.Ser33=)
c.381C>G (p.Ser127=)
c.318C>G (p.Ser106=)
n.936C>G
n.963C>G
14g.103100426C>TCA488193842EXOC3L4c.207C>T (p.Ser69=)
c.99C>T (p.Ser33=)
c.381C>T (p.Ser127=)
c.318C>T (p.Ser106=)
n.936C>T
n.963C>T
 gnomAD v4
14g.103100426_103100427insCTTTGCA966769491EXOC3L4c.207_208insCTTTG (p.Lys70LeufsTer2)
c.99_100insCTTTG (p.Lys34LeufsTer2)
c.381_382insCTTTG (p.Lys128LeufsTer2)
c.318_319insCTTTG (p.Lys107LeufsTer2)
n.936_937insCTTTG
n.963_964insCTTTG
 dbSNP gnomAD v3 gnomAD v4
14g.103100427A=CA2160140056EXOC3L4c.208A= (p.Lys70=)
c.100A= (p.Lys34=)
c.382A= (p.Lys128=)
c.319A= (p.Lys107=)
n.937A=
n.964A=
14g.103100427A>CCA391081479EXOC3L4c.208A>C (p.Lys70Gln)
c.100A>C (p.Lys34Gln)
c.382A>C (p.Lys128Gln)
c.319A>C (p.Lys107Gln)
n.937A>C
n.964A>C
 dbSNP
14g.103100427A>GCA391081480EXOC3L4c.208A>G (p.Lys70Glu)
c.100A>G (p.Lys34Glu)
c.382A>G (p.Lys128Glu)
c.319A>G (p.Lys107Glu)
n.937A>G
n.964A>G
14g.103100427A>TCA391081485EXOC3L4c.208A>T (p.Lys70Ter)
c.100A>T (p.Lys34Ter)
c.382A>T (p.Lys128Ter)
c.319A>T (p.Lys107Ter)
n.937A>T
n.964A>T
14g.103100427_103100428insCCCCA966769498EXOC3L4c.208_209insCCC (p.Lys70delinsThrGln)
c.100_101insCCC (p.Lys34delinsThrGln)
c.382_383insCCC (p.Lys128delinsThrGln)
c.319_320insCCC (p.Lys107delinsThrGln)
n.937_938insCCC
n.964_965insCCC
 dbSNP gnomAD v3 gnomAD v4
14g.103100428A>CCA391081504EXOC3L4c.209A>C (p.Lys70Thr)
c.101A>C (p.Lys34Thr)
c.383A>C (p.Lys128Thr)
c.320A>C (p.Lys107Thr)
n.938A>C
n.965A>C
14g.103100428A>GCA391081488EXOC3L4c.209A>G (p.Lys70Arg)
c.101A>G (p.Lys34Arg)
c.383A>G (p.Lys128Arg)
c.320A>G (p.Lys107Arg)
n.938A>G
n.965A>G
14g.103100428A>TCA391081499EXOC3L4c.209A>T (p.Lys70Met)
c.101A>T (p.Lys34Met)
c.383A>T (p.Lys128Met)
c.320A>T (p.Lys107Met)
n.938A>T
n.965A>T
14g.103100428_103100429delinsAGCA2160140057EXOC3L4c.209_210delinsAG (p.Lys70=)
c.101_102delinsAG (p.Lys34=)
c.383_384delinsAG (p.Lys128=)
c.320_321delinsAG (p.Lys107=)
n.938_939delinsAG
n.965_966delinsAG
14g.103100429G>ACA488193848EXOC3L4c.210G>A (p.Lys70=)
c.102G>A (p.Lys34=)
c.384G>A (p.Lys128=)
c.321G>A (p.Lys107=)
n.939G>A
n.966G>A
 dbSNP
14g.103100429G>CCA391081507EXOC3L4c.210G>C (p.Lys70Asn)
c.102G>C (p.Lys34Asn)
c.384G>C (p.Lys128Asn)
c.321G>C (p.Lys107Asn)
n.939G>C
n.966G>C
14g.103100429G=CA2160140058EXOC3L4c.210G= (p.Lys70=)
c.102G= (p.Lys34=)
c.384G= (p.Lys128=)
c.321G= (p.Lys107=)
n.939G=
n.966G=
14g.103100429G>TCA391081509EXOC3L4c.210G>T (p.Lys70Asn)
c.102G>T (p.Lys34Asn)
c.384G>T (p.Lys128Asn)
c.321G>T (p.Lys107Asn)
n.939G>T
n.966G>T
 gnomAD v4
14g.103100430delCA7361819EXOC3L4c.211del (p.Glu71LysfsTer21)
c.103del (p.Glu35LysfsTer21)
c.385del (p.Glu129LysfsTer21)
c.322del (p.Glu108LysfsTer21)
n.940del
n.967del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100430G>ACA391081515EXOC3L4c.211G>A (p.Glu71Lys)
c.103G>A (p.Glu35Lys)
c.385G>A (p.Glu129Lys)
c.322G>A (p.Glu108Lys)
n.940G>A
n.967G>A
14g.103100430G>CCA391081518EXOC3L4c.211G>C (p.Glu71Gln)
c.103G>C (p.Glu35Gln)
c.385G>C (p.Glu129Gln)
c.322G>C (p.Glu108Gln)
n.940G>C
n.967G>C
14g.103100430G>TCA391081520EXOC3L4c.211G>T (p.Glu71Ter)
c.103G>T (p.Glu35Ter)
c.385G>T (p.Glu129Ter)
c.322G>T (p.Glu108Ter)
n.940G>T
n.967G>T
14g.103100431A>CCA391081525EXOC3L4c.212A>C (p.Glu71Ala)
c.104A>C (p.Glu35Ala)
c.386A>C (p.Glu129Ala)
c.323A>C (p.Glu108Ala)
n.941A>C
n.968A>C
14g.103100431A>GCA391081528EXOC3L4c.212A>G (p.Glu71Gly)
c.104A>G (p.Glu35Gly)
c.386A>G (p.Glu129Gly)
c.323A>G (p.Glu108Gly)
n.941A>G
n.968A>G
14g.103100431A>TCA391081531EXOC3L4c.212A>T (p.Glu71Val)
c.104A>T (p.Glu35Val)
c.386A>T (p.Glu129Val)
c.323A>T (p.Glu108Val)
n.941A>T
n.968A>T
14g.103100432A>CCA391081534EXOC3L4c.213A>C (p.Glu71Asp)
c.105A>C (p.Glu35Asp)
c.387A>C (p.Glu129Asp)
c.324A>C (p.Glu108Asp)
n.942A>C
n.969A>C
14g.103100432A>GCA488193856EXOC3L4c.213A>G (p.Glu71=)
c.105A>G (p.Glu35=)
c.387A>G (p.Glu129=)
c.324A>G (p.Glu108=)
n.942A>G
n.969A>G
 dbSNP
14g.103100432A>TCA391081537EXOC3L4c.213A>T (p.Glu71Asp)
c.105A>T (p.Glu35Asp)
c.387A>T (p.Glu129Asp)
c.324A>T (p.Glu108Asp)
n.942A>T
n.969A>T
14g.103100433G>ACA391081540EXOC3L4c.214G>A (p.Asp72Asn)
c.106G>A (p.Asp36Asn)
c.388G>A (p.Asp130Asn)
c.325G>A (p.Asp109Asn)
n.943G>A
n.970G>A
14g.103100433G>CCA7361820EXOC3L4c.214G>C (p.Asp72His)
c.106G>C (p.Asp36His)
c.388G>C (p.Asp130His)
c.325G>C (p.Asp109His)
n.943G>C
n.970G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100433G=CA2160140059EXOC3L4c.214G= (p.Asp72=)
c.106G= (p.Asp36=)
c.388G= (p.Asp130=)
c.325G= (p.Asp109=)
n.943G=
n.970G=
14g.103100433G>TCA391081543EXOC3L4c.214G>T (p.Asp72Tyr)
c.106G>T (p.Asp36Tyr)
c.388G>T (p.Asp130Tyr)
c.325G>T (p.Asp109Tyr)
n.943G>T
n.970G>T
14g.103100434A>CCA391081551EXOC3L4c.215A>C (p.Asp72Ala)
c.107A>C (p.Asp36Ala)
c.389A>C (p.Asp130Ala)
c.326A>C (p.Asp109Ala)
n.944A>C
n.971A>C
14g.103100434A>GCA391081555EXOC3L4c.215A>G (p.Asp72Gly)
c.107A>G (p.Asp36Gly)
c.389A>G (p.Asp130Gly)
c.326A>G (p.Asp109Gly)
n.944A>G
n.971A>G
14g.103100434A>TCA391081552EXOC3L4c.215A>T (p.Asp72Val)
c.107A>T (p.Asp36Val)
c.389A>T (p.Asp130Val)
c.326A>T (p.Asp109Val)
n.944A>T
n.971A>T
14g.103100435T>ACA391081556EXOC3L4c.216T>A (p.Asp72Glu)
c.108T>A (p.Asp36Glu)
c.390T>A (p.Asp130Glu)
c.327T>A (p.Asp109Glu)
n.945T>A
n.972T>A
 dbSNP gnomAD v4
14g.103100435T>CCA7361821EXOC3L4c.216T>C (p.Asp72=)
c.108T>C (p.Asp36=)
c.390T>C (p.Asp130=)
c.327T>C (p.Asp109=)
n.945T>C
n.972T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100435T>GCA391081558EXOC3L4c.216T>G (p.Asp72Glu)
c.108T>G (p.Asp36Glu)
c.390T>G (p.Asp130Glu)
c.327T>G (p.Asp109Glu)
n.945T>G
n.972T>G
14g.103100435T=CA2160140060EXOC3L4c.216T= (p.Asp72=)
c.108T= (p.Asp36=)
c.390T= (p.Asp130=)
c.327T= (p.Asp109=)
n.945T=
n.972T=
14g.103100436A=CA2160140061EXOC3L4c.217A= (p.Thr73=)
c.109A= (p.Thr37=)
c.391A= (p.Thr131=)
c.328A= (p.Thr110=)
n.946A=
n.973A=
14g.103100436A>CCA391081562EXOC3L4c.217A>C (p.Thr73Pro)
c.109A>C (p.Thr37Pro)
c.391A>C (p.Thr131Pro)
c.328A>C (p.Thr110Pro)
n.946A>C
n.973A>C
14g.103100436A>GCA391081565EXOC3L4c.217A>G (p.Thr73Ala)
c.109A>G (p.Thr37Ala)
c.391A>G (p.Thr131Ala)
c.328A>G (p.Thr110Ala)
n.946A>G
n.973A>G
14g.103100436A>TCA267170826EXOC3L4c.217A>T (p.Thr73Ser)
c.109A>T (p.Thr37Ser)
c.391A>T (p.Thr131Ser)
c.328A>T (p.Thr110Ser)
n.946A>T
n.973A>T
 dbSNP
14g.103100437C>ACA391081567EXOC3L4c.218C>A (p.Thr73Lys)
c.110C>A (p.Thr37Lys)
c.392C>A (p.Thr131Lys)
c.329C>A (p.Thr110Lys)
n.947C>A
n.974C>A
14g.103100437C=CA2160140062EXOC3L4c.218C= (p.Thr73=)
c.110C= (p.Thr37=)
c.392C= (p.Thr131=)
c.329C= (p.Thr110=)
n.947C=
n.974C=
14g.103100437C>GCA391081569EXOC3L4c.218C>G (p.Thr73Arg)
c.110C>G (p.Thr37Arg)
c.392C>G (p.Thr131Arg)
c.329C>G (p.Thr110Arg)
n.947C>G
n.974C>G
 dbSNP gnomAD v3 gnomAD v4
14g.103100437C>TCA7361822EXOC3L4c.218C>T (p.Thr73Met)
c.110C>T (p.Thr37Met)
c.392C>T (p.Thr131Met)
c.329C>T (p.Thr110Met)
n.947C>T
n.974C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100438G>ACA7361823EXOC3L4c.219G>A (p.Thr73=)
c.111G>A (p.Thr37=)
c.393G>A (p.Thr131=)
c.330G>A (p.Thr110=)
n.948G>A
n.975G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100438G>CCA488193867EXOC3L4c.219G>C (p.Thr73=)
c.111G>C (p.Thr37=)
c.393G>C (p.Thr131=)
c.330G>C (p.Thr110=)
n.948G>C
n.975G>C
 dbSNP gnomAD v2 gnomAD v4
14g.103100438G=CA2160140063EXOC3L4c.219G= (p.Thr73=)
c.111G= (p.Thr37=)
c.393G= (p.Thr131=)
c.330G= (p.Thr110=)
n.948G=
n.975G=
14g.103100438G>TCA488193868EXOC3L4c.219G>T (p.Thr73=)
c.111G>T (p.Thr37=)
c.393G>T (p.Thr131=)
c.330G>T (p.Thr110=)
n.948G>T
n.975G>T
 gnomAD v4
14g.103100439G>ACA391081576EXOC3L4c.220G>A (p.Gly74Ser)
c.112G>A (p.Gly38Ser)
c.394G>A (p.Gly132Ser)
c.331G>A (p.Gly111Ser)
n.949G>A
n.976G>A
 dbSNP
14g.103100439G>CCA391081578EXOC3L4c.220G>C (p.Gly74Arg)
c.112G>C (p.Gly38Arg)
c.394G>C (p.Gly132Arg)
c.331G>C (p.Gly111Arg)
n.949G>C
n.976G>C
14g.103100439G=CA2160140064EXOC3L4c.220G= (p.Gly74=)
c.112G= (p.Gly38=)
c.394G= (p.Gly132=)
c.331G= (p.Gly111=)
n.949G=
n.976G=
14g.103100439G>TCA391081580EXOC3L4c.220G>T (p.Gly74Cys)
c.112G>T (p.Gly38Cys)
c.394G>T (p.Gly132Cys)
c.331G>T (p.Gly111Cys)
n.949G>T
n.976G>T
14g.103100440G>ACA391081589EXOC3L4c.221G>A (p.Gly74Asp)
c.113G>A (p.Gly38Asp)
c.395G>A (p.Gly132Asp)
c.332G>A (p.Gly111Asp)
n.950G>A
n.977G>A
 dbSNP gnomAD v3 gnomAD v4
14g.103100440G>CCA391081591EXOC3L4c.221G>C (p.Gly74Ala)
c.113G>C (p.Gly38Ala)
c.395G>C (p.Gly132Ala)
c.332G>C (p.Gly111Ala)
n.950G>C
n.977G>C
14g.103100440G=CA2160140065EXOC3L4c.221G= (p.Gly74=)
c.113G= (p.Gly38=)
c.395G= (p.Gly132=)
c.332G= (p.Gly111=)
n.950G=
n.977G=
14g.103100440G>TCA391081593EXOC3L4c.221G>T (p.Gly74Val)
c.113G>T (p.Gly38Val)
c.395G>T (p.Gly132Val)
c.332G>T (p.Gly111Val)
n.950G>T
n.977G>T
14g.103100441C>ACA488193877EXOC3L4c.222C>A (p.Gly74=)
c.114C>A (p.Gly38=)
c.396C>A (p.Gly132=)
c.333C>A (p.Gly111=)
n.951C>A
n.978C>A
 gnomAD v4
14g.103100441C=CA2160140066EXOC3L4c.222C= (p.Gly74=)
c.114C= (p.Gly38=)
c.396C= (p.Gly132=)
c.333C= (p.Gly111=)
n.951C=
n.978C=
14g.103100441C>GCA488193878EXOC3L4c.222C>G (p.Gly74=)
c.114C>G (p.Gly38=)
c.396C>G (p.Gly132=)
c.333C>G (p.Gly111=)
n.951C>G
n.978C>G
14g.103100441C>TCA488193875EXOC3L4c.222C>T (p.Gly74=)
c.114C>T (p.Gly38=)
c.396C>T (p.Gly132=)
c.333C>T (p.Gly111=)
n.951C>T
n.978C>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100442C>ACA391081595EXOC3L4c.223C>A (p.Leu75Met)
c.115C>A (p.Leu39Met)
c.397C>A (p.Leu133Met)
c.334C>A (p.Leu112Met)
n.952C>A
n.979C>A
14g.103100442C=CA2160140067EXOC3L4c.223C= (p.Leu75=)
c.115C= (p.Leu39=)
c.397C= (p.Leu133=)
c.334C= (p.Leu112=)
n.952C=
n.979C=
14g.103100442C>GCA391081596EXOC3L4c.223C>G (p.Leu75Val)
c.115C>G (p.Leu39Val)
c.397C>G (p.Leu133Val)
c.334C>G (p.Leu112Val)
n.952C>G
n.979C>G
 dbSNP gnomAD v3 gnomAD v4
14g.103100442C>TCA488193879EXOC3L4c.223C>T (p.Leu75=)
c.115C>T (p.Leu39=)
c.397C>T (p.Leu133=)
c.334C>T (p.Leu112=)
n.952C>T
n.979C>T
 dbSNP gnomAD v4
14g.103100443T>ACA391081600EXOC3L4c.224T>A (p.Leu75Gln)
c.116T>A (p.Leu39Gln)
c.398T>A (p.Leu133Gln)
c.335T>A (p.Leu112Gln)
n.953T>A
n.980T>A
14g.103100443T>CCA391081598EXOC3L4c.224T>C (p.Leu75Pro)
c.116T>C (p.Leu39Pro)
c.398T>C (p.Leu133Pro)
c.335T>C (p.Leu112Pro)
n.953T>C
n.980T>C
 gnomAD v4
14g.103100443T>GCA391081599EXOC3L4c.224T>G (p.Leu75Arg)
c.116T>G (p.Leu39Arg)
c.398T>G (p.Leu133Arg)
c.335T>G (p.Leu112Arg)
n.953T>G
n.980T>G
14g.103100444G>ACA488193883EXOC3L4c.225G>A (p.Leu75=)
c.117G>A (p.Leu39=)
c.399G>A (p.Leu133=)
c.336G>A (p.Leu112=)
n.954G>A
n.981G>A
14g.103100444G>CCA488193881EXOC3L4c.225G>C (p.Leu75=)
c.117G>C (p.Leu39=)
c.399G>C (p.Leu133=)
c.336G>C (p.Leu112=)
n.954G>C
n.981G>C
14g.103100444G>TCA488193882EXOC3L4c.225G>T (p.Leu75=)
c.117G>T (p.Leu39=)
c.399G>T (p.Leu133=)
c.336G>T (p.Leu112=)
n.954G>T
n.981G>T
14g.103100445T>ACA391081603EXOC3L4c.226T>A (p.Phe76Ile)
c.118T>A (p.Phe40Ile)
c.400T>A (p.Phe134Ile)
c.337T>A (p.Phe113Ile)
n.955T>A
n.982T>A
14g.103100445T>CCA7361824EXOC3L4c.226T>C (p.Phe76Leu)
c.118T>C (p.Phe40Leu)
c.400T>C (p.Phe134Leu)
c.337T>C (p.Phe113Leu)
n.955T>C
n.982T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100445T>GCA391081605EXOC3L4c.226T>G (p.Phe76Val)
c.118T>G (p.Phe40Val)
c.400T>G (p.Phe134Val)
c.337T>G (p.Phe113Val)
n.955T>G
n.982T>G
14g.103100445T=CA2160140068EXOC3L4c.226T= (p.Phe76=)
c.118T= (p.Phe40=)
c.400T= (p.Phe134=)
c.337T= (p.Phe113=)
n.955T=
n.982T=
14g.103100446T>ACA391081608EXOC3L4c.227T>A (p.Phe76Tyr)
c.119T>A (p.Phe40Tyr)
c.401T>A (p.Phe134Tyr)
c.338T>A (p.Phe113Tyr)
n.956T>A
n.983T>A
14g.103100446T>CCA391081610EXOC3L4c.227T>C (p.Phe76Ser)
c.119T>C (p.Phe40Ser)
c.401T>C (p.Phe134Ser)
c.338T>C (p.Phe113Ser)
n.956T>C
n.983T>C
14g.103100446T>GCA391081612EXOC3L4c.227T>G (p.Phe76Cys)
c.119T>G (p.Phe40Cys)
c.401T>G (p.Phe134Cys)
c.338T>G (p.Phe113Cys)
n.956T>G
n.983T>G
14g.103100446T=CA2160140069EXOC3L4c.227T= (p.Phe76=)
c.119T= (p.Phe40=)
c.401T= (p.Phe134=)
c.338T= (p.Phe113=)
n.956T=
n.983T=
14g.103100449_103100465dupCA2626692203EXOC3L4c.230_246dup (p.Leu83GlyfsTer15)
c.122_138dup (p.Leu47GlyfsTer15)
c.404_420dup (p.Leu141GlyfsTer15)
c.341_357dup (p.Leu120GlyfsTer15)
n.959_975dup
n.986_1002dup
 gnomAD v4
14g.103100447C>ACA391081614EXOC3L4c.228C>A (p.Phe76Leu)
c.120C>A (p.Phe40Leu)
c.402C>A (p.Phe134Leu)
c.339C>A (p.Phe113Leu)
n.957C>A
n.984C>A
14g.103100447C>GCA391081615EXOC3L4c.228C>G (p.Phe76Leu)
c.120C>G (p.Phe40Leu)
c.402C>G (p.Phe134Leu)
c.339C>G (p.Phe113Leu)
n.957C>G
n.984C>G
 gnomAD v4
14g.103100447C>TCA488193891EXOC3L4c.228C>T (p.Phe76=)
c.120C>T (p.Phe40=)
c.402C>T (p.Phe134=)
c.339C>T (p.Phe113=)
n.957C>T
n.984C>T
14g.103100448dupCA703283854EXOC3L4c.229dup (p.Arg77ProfsTer17)
c.121dup (p.Arg41ProfsTer17)
c.403dup (p.Arg135ProfsTer17)
c.340dup (p.Arg114ProfsTer17)
n.958dup
n.985dup
 dbSNP gnomAD v3 gnomAD v4
14g.103100448C>ACA488193892EXOC3L4c.229C>A (p.Arg77=)
c.121C>A (p.Arg41=)
c.403C>A (p.Arg135=)
c.340C>A (p.Arg114=)
n.958C>A
n.985C>A
 gnomAD v4
14g.103100448C=CA2160140070EXOC3L4c.229C= (p.Arg77=)
c.121C= (p.Arg41=)
c.403C= (p.Arg135=)
c.340C= (p.Arg114=)
n.958C=
n.985C=
14g.103100448C>GCA391081618EXOC3L4c.229C>G (p.Arg77Gly)
c.121C>G (p.Arg41Gly)
c.403C>G (p.Arg135Gly)
c.340C>G (p.Arg114Gly)
n.958C>G
n.985C>G
14g.103100448C>TCA7361825EXOC3L4c.229C>T (p.Arg77Trp)
c.121C>T (p.Arg41Trp)
c.403C>T (p.Arg135Trp)
c.340C>T (p.Arg114Trp)
n.958C>T
n.985C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100449G>ACA7361826EXOC3L4c.230G>A (p.Arg77Gln)
c.122G>A (p.Arg41Gln)
c.404G>A (p.Arg135Gln)
c.341G>A (p.Arg114Gln)
n.959G>A
n.986G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100449G>CCA391081622EXOC3L4c.230G>C (p.Arg77Pro)
c.122G>C (p.Arg41Pro)
c.404G>C (p.Arg135Pro)
c.341G>C (p.Arg114Pro)
n.959G>C
n.986G>C
14g.103100449G=CA2160140071EXOC3L4c.230G= (p.Arg77=)
c.122G= (p.Arg41=)
c.404G= (p.Arg135=)
c.341G= (p.Arg114=)
n.959G=
n.986G=
14g.103100449G>TCA7361827EXOC3L4c.230G>T (p.Arg77Leu)
c.122G>T (p.Arg41Leu)
c.404G>T (p.Arg135Leu)
c.341G>T (p.Arg114Leu)
n.959G>T
n.986G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100450G>ACA488193899EXOC3L4c.231G>A (p.Arg77=)
c.123G>A (p.Arg41=)
c.405G>A (p.Arg135=)
c.342G>A (p.Arg114=)
n.960G>A
n.987G>A
 dbSNP gnomAD v4
14g.103100450G>CCA488193901EXOC3L4c.231G>C (p.Arg77=)
c.123G>C (p.Arg41=)
c.405G>C (p.Arg135=)
c.342G>C (p.Arg114=)
n.960G>C
n.987G>C
14g.103100450G=CA2160140072EXOC3L4c.231G= (p.Arg77=)
c.123G= (p.Arg41=)
c.405G= (p.Arg135=)
c.342G= (p.Arg114=)
n.960G=
n.987G=
14g.103100450G>TCA488193902EXOC3L4c.231G>T (p.Arg77=)
c.123G>T (p.Arg41=)
c.405G>T (p.Arg135=)
c.342G>T (p.Arg114=)
n.960G>T
n.987G>T
14g.103100451C>ACA488193903EXOC3L4c.232C>A (p.Arg78=)
c.124C>A (p.Arg42=)
c.406C>A (p.Arg136=)
c.343C>A (p.Arg115=)
n.961C>A
n.988C>A
 gnomAD v4
14g.103100451C=CA2160140073EXOC3L4c.232C= (p.Arg78=)
c.124C= (p.Arg42=)
c.406C= (p.Arg136=)
c.343C= (p.Arg115=)
n.961C=
n.988C=
14g.103100451C>GCA391081625EXOC3L4c.232C>G (p.Arg78Gly)
c.124C>G (p.Arg42Gly)
c.406C>G (p.Arg136Gly)
c.343C>G (p.Arg115Gly)
n.961C>G
n.988C>G
 dbSNP
14g.103100451C>TCA7361828EXOC3L4c.232C>T (p.Arg78Ter)
c.124C>T (p.Arg42Ter)
c.406C>T (p.Arg136Ter)
c.343C>T (p.Arg115Ter)
n.961C>T
n.988C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100452G>ACA7361829EXOC3L4c.233G>A (p.Arg78Gln)
c.125G>A (p.Arg42Gln)
c.407G>A (p.Arg136Gln)
c.344G>A (p.Arg115Gln)
n.962G>A
n.989G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
14g.103100452G>CCA391081629EXOC3L4c.233G>C (p.Arg78Pro)
c.125G>C (p.Arg42Pro)
c.407G>C (p.Arg136Pro)
c.344G>C (p.Arg115Pro)
n.962G>C
n.989G>C
14g.103100452G=CA2160140074EXOC3L4c.233G= (p.Arg78=)
c.125G= (p.Arg42=)
c.407G= (p.Arg136=)
c.344G= (p.Arg115=)
n.962G=
n.989G=
14g.103100452G>TCA391081631EXOC3L4c.233G>T (p.Arg78Leu)
c.125G>T (p.Arg42Leu)
c.407G>T (p.Arg136Leu)
c.344G>T (p.Arg115Leu)
n.962G>T
n.989G>T
14g.103100453A>CCA488193905EXOC3L4c.234A>C (p.Arg78=)
c.126A>C (p.Arg42=)
c.408A>C (p.Arg136=)
c.345A>C (p.Arg115=)
n.963A>C
n.990A>C
 dbSNP
14g.103100453A>GCA488193906EXOC3L4c.234A>G (p.Arg78=)
c.126A>G (p.Arg42=)
c.408A>G (p.Arg136=)
c.345A>G (p.Arg115=)
n.963A>G
n.990A>G
14g.103100453A>TCA488193907EXOC3L4c.234A>T (p.Arg78=)
c.126A>T (p.Arg42=)
c.408A>T (p.Arg136=)
c.345A>T (p.Arg115=)
n.963A>T
n.990A>T
14g.103100454A>CCA391081632EXOC3L4c.235A>C (p.Ser79Arg)
c.127A>C (p.Ser43Arg)
c.409A>C (p.Ser137Arg)
c.346A>C (p.Ser116Arg)
n.964A>C
n.991A>C
14g.103100454A>GCA391081633EXOC3L4c.235A>G (p.Ser79Gly)
c.127A>G (p.Ser43Gly)
c.409A>G (p.Ser137Gly)
c.346A>G (p.Ser116Gly)
n.964A>G
n.991A>G
14g.103100454A>TCA391081634EXOC3L4c.235A>T (p.Ser79Cys)
c.127A>T (p.Ser43Cys)
c.409A>T (p.Ser137Cys)
c.346A>T (p.Ser116Cys)
n.964A>T
n.991A>T

Number of alleles fetched