Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.134200789T>ACA358375533PABPC4Lc.231A>T (p.Lys77Asn)
c.405A>T (p.Lys135Asn)
n.770A>T
n.765A>T
4g.134200789T>CCA441362069PABPC4Lc.231A>G (p.Lys77=)
c.405A>G (p.Lys135=)
n.770A>G
n.765A>G
4g.134200789T>GCA358375534PABPC4Lc.231A>C (p.Lys77Asn)
c.405A>C (p.Lys135Asn)
n.770A>C
n.765A>C
4g.134200790T>ACA358375535PABPC4Lc.230A>T (p.Lys77Ile)
c.404A>T (p.Lys135Ile)
n.769A>T
n.764A>T
4g.134200790T>CCA358375536PABPC4Lc.230A>G (p.Lys77Arg)
c.404A>G (p.Lys135Arg)
n.769A>G
n.764A>G
4g.134200790T>GCA358375537PABPC4Lc.230A>C (p.Lys77Thr)
c.404A>C (p.Lys135Thr)
n.769A>C
n.764A>C
4g.134200791T>ACA358375538PABPC4Lc.229A>T (p.Lys77Ter)
c.403A>T (p.Lys135Ter)
n.768A>T
n.763A>T
4g.134200791T>CCA358375539PABPC4Lc.229A>G (p.Lys77Glu)
c.403A>G (p.Lys135Glu)
n.768A>G
n.763A>G
4g.134200791T>GCA358375540PABPC4Lc.229A>C (p.Lys77Gln)
c.403A>C (p.Lys135Gln)
n.768A>C
n.763A>C
4g.134200792T>ACA441362070PABPC4Lc.228A>T (p.Ile76=)
c.402A>T (p.Ile134=)
n.767A>T
n.762A>T
4g.134200792T>CCA358375541PABPC4Lc.228A>G (p.Ile76Met)
c.402A>G (p.Ile134Met)
n.767A>G
n.762A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200792T>GCA441362071PABPC4Lc.228A>C (p.Ile76=)
c.402A>C (p.Ile134=)
n.767A>C
n.762A>C
4g.134200792T=CA1495815074PABPC4Lc.228A= (p.Ile76=)
c.402A= (p.Ile134=)
n.767A=
n.762A=
4g.134200792_134200795delinsTATGCA1495815072PABPC4Lc.225_228delinsCATA (p.Ile75=)
c.399_402delinsCATA (p.Ile133=)
n.764_767delinsCATA
n.759_762delinsCATA
4g.134200793A=CA1495815079PABPC4Lc.227T= (p.Ile76=)
c.401T= (p.Ile134=)
n.766T=
n.761T=
4g.134200793A>CCA358375544PABPC4Lc.227T>G (p.Ile76Arg)
c.401T>G (p.Ile134Arg)
n.766T>G
n.761T>G
4g.134200793A>GCA358375543PABPC4Lc.227T>C (p.Ile76Thr)
c.401T>C (p.Ile134Thr)
n.766T>C
n.761T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200793A>TCA358375542PABPC4Lc.227T>A (p.Ile76Lys)
c.401T>A (p.Ile134Lys)
n.766T>A
n.761T>A
4g.134200796_134200798delCA106325837PABPC4Lc.225_227del (p.Ile76del)
c.399_401del (p.Ile134del)
n.764_766del
n.759_761del
 dbSNP gnomAD v4
4g.134200794T>ACA358375545PABPC4Lc.226A>T (p.Ile76Leu)
c.400A>T (p.Ile134Leu)
n.765A>T
n.760A>T
4g.134200794T>CCA106325839PABPC4Lc.226A>G (p.Ile76Val)
c.400A>G (p.Ile134Val)
n.765A>G
n.760A>G
 dbSNP gnomAD v3 gnomAD v4
4g.134200794T>GCA358375546PABPC4Lc.226A>C (p.Ile76Leu)
c.400A>C (p.Ile134Leu)
n.765A>C
n.760A>C
4g.134200794T=CA1495815085PABPC4Lc.226A= (p.Ile76=)
c.400A= (p.Ile134=)
n.765A=
n.760A=
4g.134200795G>ACA441362072PABPC4Lc.225C>T (p.Ile75=)
c.399C>T (p.Ile133=)
n.764C>T
n.759C>T
4g.134200795G>CCA106325841PABPC4Lc.225C>G (p.Ile75Met)
c.399C>G (p.Ile133Met)
n.764C>G
n.759C>G
 dbSNP gnomAD v3 gnomAD v4
4g.134200795G=CA1495815088PABPC4Lc.225C= (p.Ile75=)
c.399C= (p.Ile133=)
n.764C=
n.759C=
4g.134200795G>TCA441362073PABPC4Lc.225C>A (p.Ile75=)
c.399C>A (p.Ile133=)
n.764C>A
n.759C>A
4g.134200796A=CA1495815090PABPC4Lc.224T= (p.Ile75=)
c.398T= (p.Ile133=)
n.763T=
n.758T=
4g.134200796A>CCA358375547PABPC4Lc.224T>G (p.Ile75Ser)
c.398T>G (p.Ile133Ser)
n.763T>G
n.758T>G
4g.134200796A>GCA3081082PABPC4Lc.224T>C (p.Ile75Thr)
c.398T>C (p.Ile133Thr)
n.763T>C
n.758T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200796A>TCA358375548PABPC4Lc.224T>A (p.Ile75Asn)
c.398T>A (p.Ile133Asn)
n.763T>A
n.758T>A
4g.134200797T>ACA358375549PABPC4Lc.223A>T (p.Ile75Phe)
c.397A>T (p.Ile133Phe)
n.762A>T
n.757A>T
4g.134200797T>CCA358375550PABPC4Lc.223A>G (p.Ile75Val)
c.397A>G (p.Ile133Val)
n.762A>G
n.757A>G
4g.134200797T>GCA358375551PABPC4Lc.223A>C (p.Ile75Leu)
c.397A>C (p.Ile133Leu)
n.762A>C
n.757A>C
4g.134200798G>ACA441362074PABPC4Lc.222C>T (p.Asp74=)
c.396C>T (p.Asp132=)
n.761C>T
n.756C>T
 gnomAD v4
4g.134200798G>CCA358375552PABPC4Lc.222C>G (p.Asp74Glu)
c.396C>G (p.Asp132Glu)
n.761C>G
n.756C>G
4g.134200798G>TCA358375553PABPC4Lc.222C>A (p.Asp74Glu)
c.396C>A (p.Asp132Glu)
n.761C>A
n.756C>A
4g.134200799T>ACA358375556PABPC4Lc.221A>T (p.Asp74Val)
c.395A>T (p.Asp132Val)
n.760A>T
n.755A>T
4g.134200799T>CCA358375555PABPC4Lc.221A>G (p.Asp74Gly)
c.395A>G (p.Asp132Gly)
n.760A>G
n.755A>G
4g.134200799T>GCA358375554PABPC4Lc.221A>C (p.Asp74Ala)
c.395A>C (p.Asp132Ala)
n.760A>C
n.755A>C
4g.134200800C>ACA358375557PABPC4Lc.220G>T (p.Asp74Tyr)
c.394G>T (p.Asp132Tyr)
n.759G>T
n.754G>T
 COSMIC COSMIC
4g.134200800C=CA1495815092PABPC4Lc.220G= (p.Asp74=)
c.394G= (p.Asp132=)
n.759G=
n.754G=
4g.134200800C>GCA358375559PABPC4Lc.220G>C (p.Asp74His)
c.394G>C (p.Asp132His)
n.759G>C
n.754G>C
4g.134200800C>TCA358375558PABPC4Lc.220G>A (p.Asp74Asn)
c.394G>A (p.Asp132Asn)
n.759G>A
n.754G>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200801A>CCA358375560PABPC4Lc.219T>G (p.Phe73Leu)
c.393T>G (p.Phe131Leu)
n.758T>G
n.753T>G
4g.134200801A>GCA441362075PABPC4Lc.219T>C (p.Phe73=)
c.393T>C (p.Phe131=)
n.758T>C
n.753T>C
4g.134200801A>TCA358375561PABPC4Lc.219T>A (p.Phe73Leu)
c.393T>A (p.Phe131Leu)
n.758T>A
n.753T>A
4g.134200802A>CCA358375562PABPC4Lc.218T>G (p.Phe73Cys)
c.392T>G (p.Phe131Cys)
n.757T>G
n.752T>G
4g.134200802A>GCA358375563PABPC4Lc.218T>C (p.Phe73Ser)
c.392T>C (p.Phe131Ser)
n.757T>C
n.752T>C
4g.134200802A>TCA358375564PABPC4Lc.218T>A (p.Phe73Tyr)
c.392T>A (p.Phe131Tyr)
n.757T>A
n.752T>A
4g.134200803A=CA1495815095PABPC4Lc.217T= (p.Phe73=)
c.391T= (p.Phe131=)
n.756T=
n.751T=
4g.134200803A>CCA358375565PABPC4Lc.217T>G (p.Phe73Val)
c.391T>G (p.Phe131Val)
n.756T>G
n.751T>G
 dbSNP gnomAD v4
4g.134200803A>GCA358375566PABPC4Lc.217T>C (p.Phe73Leu)
c.391T>C (p.Phe131Leu)
n.756T>C
n.751T>C
4g.134200803A>TCA358375567PABPC4Lc.217T>A (p.Phe73Ile)
c.391T>A (p.Phe131Ile)
n.756T>A
n.751T>A
4g.134200804G>ACA441362076PABPC4Lc.216C>T (p.Asn72=)
c.390C>T (p.Asn130=)
n.755C>T
n.750C>T
 gnomAD v4
4g.134200804G>CCA358375568PABPC4Lc.216C>G (p.Asn72Lys)
c.390C>G (p.Asn130Lys)
n.755C>G
n.750C>G
4g.134200804G=CA1495815097PABPC4Lc.216C= (p.Asn72=)
c.390C= (p.Asn130=)
n.755C=
n.750C=
4g.134200804G>TCA106325844PABPC4Lc.216C>A (p.Asn72Lys)
c.390C>A (p.Asn130Lys)
n.755C>A
n.750C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200805T>ACA358375569PABPC4Lc.215A>T (p.Asn72Ile)
c.389A>T (p.Asn130Ile)
n.754A>T
n.749A>T
4g.134200805T>CCA358375570PABPC4Lc.215A>G (p.Asn72Ser)
c.389A>G (p.Asn130Ser)
n.754A>G
n.749A>G
4g.134200805T>GCA358375571PABPC4Lc.215A>C (p.Asn72Thr)
c.389A>C (p.Asn130Thr)
n.754A>C
n.749A>C
4g.134200806T>ACA358375574PABPC4Lc.214A>T (p.Asn72Tyr)
c.388A>T (p.Asn130Tyr)
n.753A>T
n.748A>T
4g.134200806T>CCA358375572PABPC4Lc.214A>G (p.Asn72Asp)
c.388A>G (p.Asn130Asp)
n.753A>G
n.748A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.134200806T>GCA358375573PABPC4Lc.214A>C (p.Asn72His)
c.388A>C (p.Asn130His)
n.753A>C
n.748A>C
4g.134200806T=CA1495815100PABPC4Lc.214A= (p.Asn72=)
c.388A= (p.Asn130=)
n.753A=
n.748A=
4g.134200807C>ACA358375575PABPC4Lc.213G>T (p.Met71Ile)
c.387G>T (p.Met129Ile)
n.752G>T
n.747G>T
 gnomAD v4
4g.134200807C=CA1495815102PABPC4Lc.213G= (p.Met71=)
c.387G= (p.Met129=)
n.752G=
n.747G=
4g.134200807C>GCA358375576PABPC4Lc.213G>C (p.Met71Ile)
c.387G>C (p.Met129Ile)
n.752G>C
n.747G>C
 dbSNP gnomAD v2 gnomAD v4
4g.134200807C>TCA358375577PABPC4Lc.213G>A (p.Met71Ile)
c.387G>A (p.Met129Ile)
n.752G>A
n.747G>A
4g.134200808A=CA1495815104PABPC4Lc.212T= (p.Met71=)
c.386T= (p.Met129=)
n.751T=
n.746T=
4g.134200808A>CCA358375578PABPC4Lc.212T>G (p.Met71Arg)
c.386T>G (p.Met129Arg)
n.751T>G
n.746T>G
4g.134200808A>GCA358375579PABPC4Lc.212T>C (p.Met71Thr)
c.386T>C (p.Met129Thr)
n.751T>C
n.746T>C
 gnomAD v4
4g.134200808A>TCA358375580PABPC4Lc.212T>A (p.Met71Lys)
c.386T>A (p.Met129Lys)
n.751T>A
n.746T>A
 dbSNP gnomAD v4
4g.134200809T>ACA358375581PABPC4Lc.211A>T (p.Met71Leu)
c.385A>T (p.Met129Leu)
n.750A>T
n.745A>T
 gnomAD v4
4g.134200809T>CCA3081083PABPC4Lc.211A>G (p.Met71Val)
c.385A>G (p.Met129Val)
n.750A>G
n.745A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200809T>GCA358375582PABPC4Lc.211A>C (p.Met71Leu)
c.385A>C (p.Met129Leu)
n.750A>C
n.745A>C
4g.134200809T=CA1495815107PABPC4Lc.211A= (p.Met71=)
c.385A= (p.Met129=)
n.750A=
n.745A=
4g.134200810T>ACA441362079PABPC4Lc.210A>T (p.Thr70=)
c.384A>T (p.Thr128=)
n.749A>T
n.744A>T
4g.134200810T>CCA441362077PABPC4Lc.210A>G (p.Thr70=)
c.384A>G (p.Thr128=)
n.749A>G
n.744A>G
4g.134200810T>GCA441362078PABPC4Lc.210A>C (p.Thr70=)
c.384A>C (p.Thr128=)
n.749A>C
n.744A>C
 dbSNP gnomAD v4
4g.134200810T=CA1495815109PABPC4Lc.210A= (p.Thr70=)
c.384A= (p.Thr128=)
n.749A=
n.744A=
4g.134200811G>ACA358375583PABPC4Lc.209C>T (p.Thr70Ile)
c.383C>T (p.Thr128Ile)
n.748C>T
n.743C>T
 dbSNP
4g.134200811G>CCA358375584PABPC4Lc.209C>G (p.Thr70Arg)
c.383C>G (p.Thr128Arg)
n.748C>G
n.743C>G
4g.134200811G>TCA358375585PABPC4Lc.209C>A (p.Thr70Lys)
c.383C>A (p.Thr128Lys)
n.748C>A
n.743C>A
4g.134200812T>ACA358375586PABPC4Lc.208A>T (p.Thr70Ser)
c.382A>T (p.Thr128Ser)
n.747A>T
n.742A>T
4g.134200812T>CCA3081085PABPC4Lc.208A>G (p.Thr70Ala)
c.382A>G (p.Thr128Ala)
n.747A>G
n.742A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200812T>GCA3081084PABPC4Lc.208A>C (p.Thr70Pro)
c.382A>C (p.Thr128Pro)
n.747A>C
n.742A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.134200812T=CA1495815111PABPC4Lc.208A= (p.Thr70=)
c.382A= (p.Thr128=)
n.747A=
n.742A=
4g.134200813G>ACA441362080PABPC4Lc.207C>T (p.Asp69=)
c.381C>T (p.Asp127=)
n.746C>T
n.741C>T
4g.134200813G>CCA358375587PABPC4Lc.207C>G (p.Asp69Glu)
c.381C>G (p.Asp127Glu)
n.746C>G
n.741C>G
4g.134200813G>TCA358375588PABPC4Lc.207C>A (p.Asp69Glu)
c.381C>A (p.Asp127Glu)
n.746C>A
n.741C>A
 gnomAD v4
4g.134200814T>ACA358375589PABPC4Lc.206A>T (p.Asp69Val)
c.380A>T (p.Asp127Val)
n.745A>T
n.740A>T
4g.134200814T>CCA358375590PABPC4Lc.206A>G (p.Asp69Gly)
c.380A>G (p.Asp127Gly)
n.745A>G
n.740A>G
4g.134200814T>GCA358375591PABPC4Lc.206A>C (p.Asp69Ala)
c.380A>C (p.Asp127Ala)
n.745A>C
n.740A>C
4g.134200815C>ACA358375592PABPC4Lc.205G>T (p.Asp69Tyr)
c.379G>T (p.Asp127Tyr)
n.744G>T
n.739G>T
4g.134200815C>GCA358375593PABPC4Lc.205G>C (p.Asp69His)
c.379G>C (p.Asp127His)
n.744G>C
n.739G>C
4g.134200815C>TCA358375594PABPC4Lc.205G>A (p.Asp69Asn)
c.379G>A (p.Asp127Asn)
n.744G>A
n.739G>A
4g.134200816C>ACA441362081PABPC4Lc.204G>T (p.Leu68=)
c.378G>T (p.Leu126=)
n.743G>T
n.738G>T
4g.134200816C>GCA441362082PABPC4Lc.204G>C (p.Leu68=)
c.378G>C (p.Leu126=)
n.743G>C
n.738G>C
4g.134200816C>TCA441362083PABPC4Lc.204G>A (p.Leu68=)
c.378G>A (p.Leu126=)
n.743G>A
n.738G>A
 gnomAD v4
4g.134200817A=CA1495815114PABPC4Lc.203T= (p.Leu68=)
c.377T= (p.Leu126=)
n.742T=
n.737T=
4g.134200817A>CCA3081086PABPC4Lc.203T>G (p.Leu68Arg)
c.377T>G (p.Leu126Arg)
n.742T>G
n.737T>G
 dbSNP ExAC gnomAD v2
4g.134200817A>GCA358375595PABPC4Lc.203T>C (p.Leu68Pro)
c.377T>C (p.Leu126Pro)
n.742T>C
n.737T>C
4g.134200817A>TCA106325850PABPC4Lc.203T>A (p.Leu68Gln)
c.377T>A (p.Leu126Gln)
n.742T>A
n.737T>A
 dbSNP gnomAD v4
4g.134200818G>ACA441362084PABPC4Lc.202C>T (p.Leu68=)
c.376C>T (p.Leu126=)
n.741C>T
n.736C>T
 dbSNP gnomAD v2 gnomAD v4
4g.134200818G>CCA358375597PABPC4Lc.202C>G (p.Leu68Val)
c.376C>G (p.Leu126Val)
n.741C>G
n.736C>G
4g.134200818G=CA1495815119PABPC4Lc.202C= (p.Leu68=)
c.376C= (p.Leu126=)
n.741C=
n.736C=
4g.134200818G>TCA358375596PABPC4Lc.202C>A (p.Leu68Met)
c.376C>A (p.Leu126Met)
n.741C>A
n.736C>A
4g.134200819C>ACA106325852PABPC4Lc.201G>T (p.Ala67=)
c.375G>T (p.Ala125=)
n.740G>T
n.735G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200819C=CA1495815123PABPC4Lc.201G= (p.Ala67=)
c.375G= (p.Ala125=)
n.740G=
n.735G=
4g.134200819C>GCA441362085PABPC4Lc.201G>C (p.Ala67=)
c.375G>C (p.Ala125=)
n.740G>C
n.735G>C
4g.134200819C>TCA441362086PABPC4Lc.201G>A (p.Ala67=)
c.375G>A (p.Ala125=)
n.740G>A
n.735G>A
 gnomAD v4 COSMIC COSMIC
4g.134200820G>ACA358375598PABPC4Lc.200C>T (p.Ala67Val)
c.374C>T (p.Ala125Val)
n.739C>T
n.734C>T
 dbSNP gnomAD v2 gnomAD v4
4g.134200820G>CCA358375599PABPC4Lc.200C>G (p.Ala67Gly)
c.374C>G (p.Ala125Gly)
n.739C>G
n.734C>G
4g.134200820G=CA1495815125PABPC4Lc.200C= (p.Ala67=)
c.374C= (p.Ala125=)
n.739C=
n.734C=
4g.134200820G>TCA358375600PABPC4Lc.200C>A (p.Ala67Glu)
c.374C>A (p.Ala125Glu)
n.739C>A
n.734C>A
4g.134200821C>ACA358375601PABPC4Lc.199G>T (p.Ala67Ser)
c.373G>T (p.Ala125Ser)
n.738G>T
n.733G>T
4g.134200821C>GCA358375602PABPC4Lc.199G>C (p.Ala67Pro)
c.373G>C (p.Ala125Pro)
n.738G>C
n.733G>C
4g.134200821C>TCA358375603PABPC4Lc.199G>A (p.Ala67Thr)
c.373G>A (p.Ala125Thr)
n.738G>A
n.733G>A
 gnomAD v4
4g.134200822C>ACA358375604PABPC4Lc.198G>T (p.Lys66Asn)
c.372G>T (p.Lys124Asn)
n.737G>T
n.732G>T
4g.134200822C>GCA358375605PABPC4Lc.198G>C (p.Lys66Asn)
c.372G>C (p.Lys124Asn)
n.737G>C
n.732G>C
4g.134200822C>TCA441362087PABPC4Lc.198G>A (p.Lys66=)
c.372G>A (p.Lys124=)
n.737G>A
n.732G>A
 gnomAD v4
4g.134200823T>ACA358375606PABPC4Lc.197A>T (p.Lys66Met)
c.371A>T (p.Lys124Met)
n.736A>T
n.731A>T
4g.134200823T>CCA358375607PABPC4Lc.197A>G (p.Lys66Arg)
c.371A>G (p.Lys124Arg)
n.736A>G
n.731A>G
4g.134200823T>GCA358375608PABPC4Lc.197A>C (p.Lys66Thr)
c.371A>C (p.Lys124Thr)
n.736A>C
n.731A>C
4g.134200824T>ACA358375610PABPC4Lc.196A>T (p.Lys66Ter)
c.370A>T (p.Lys124Ter)
n.735A>T
n.730A>T
4g.134200824T>CCA358375611PABPC4Lc.196A>G (p.Lys66Glu)
c.370A>G (p.Lys124Glu)
n.735A>G
n.730A>G
 dbSNP
4g.134200824T>GCA358375609PABPC4Lc.196A>C (p.Lys66Gln)
c.370A>C (p.Lys124Gln)
n.735A>C
n.730A>C
 dbSNP gnomAD v4
4g.134200824T=CA1495815127PABPC4Lc.196A= (p.Lys66=)
c.370A= (p.Lys124=)
n.735A=
n.730A=
4g.134200825C>ACA358375613PABPC4Lc.195G>T (p.Gln65His)
c.369G>T (p.Gln123His)
n.734G>T
n.729G>T
 gnomAD v4
4g.134200825C>GCA358375612PABPC4Lc.195G>C (p.Gln65His)
c.369G>C (p.Gln123His)
n.734G>C
n.729G>C
4g.134200825C>TCA441362088PABPC4Lc.195G>A (p.Gln65=)
c.369G>A (p.Gln123=)
n.734G>A
n.729G>A
4g.134200826T>ACA358375614PABPC4Lc.194A>T (p.Gln65Leu)
c.368A>T (p.Gln123Leu)
n.733A>T
n.728A>T
4g.134200826T>CCA358375615PABPC4Lc.194A>G (p.Gln65Arg)
c.368A>G (p.Gln123Arg)
n.733A>G
n.728A>G
4g.134200826T>GCA358375616PABPC4Lc.194A>C (p.Gln65Pro)
c.368A>C (p.Gln123Pro)
n.733A>C
n.728A>C
4g.134200827G>ACA358375617PABPC4Lc.193C>T (p.Gln65Ter)
c.367C>T (p.Gln123Ter)
n.732C>T
n.727C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200827G>CCA358375618PABPC4Lc.193C>G (p.Gln65Glu)
c.367C>G (p.Gln123Glu)
n.732C>G
n.727C>G
4g.134200827G=CA1495815128PABPC4Lc.193C= (p.Gln65=)
c.367C= (p.Gln123=)
n.732C=
n.727C=
4g.134200827G>TCA358375619PABPC4Lc.193C>A (p.Gln65Lys)
c.367C>A (p.Gln123Lys)
n.732C>A
n.727C>A
 gnomAD v4
4g.134200828G>ACA441362089PABPC4Lc.192C>T (p.Ala64=)
c.366C>T (p.Ala122=)
n.731C>T
n.726C>T
 gnomAD v4
4g.134200828G>CCA441362090PABPC4Lc.192C>G (p.Ala64=)
c.366C>G (p.Ala122=)
n.731C>G
n.726C>G
4g.134200828G>TCA441362091PABPC4Lc.192C>A (p.Ala64=)
c.366C>A (p.Ala122=)
n.731C>A
n.726C>A
4g.134200829G>ACA358375620PABPC4Lc.191C>T (p.Ala64Val)
c.365C>T (p.Ala122Val)
n.730C>T
n.725C>T
 gnomAD v4
4g.134200829G>CCA358375621PABPC4Lc.191C>G (p.Ala64Gly)
c.365C>G (p.Ala122Gly)
n.730C>G
n.725C>G
4g.134200829G>TCA358375622PABPC4Lc.191C>A (p.Ala64Asp)
c.365C>A (p.Ala122Asp)
n.730C>A
n.725C>A
4g.134200830C>ACA358375623PABPC4Lc.190G>T (p.Ala64Ser)
c.364G>T (p.Ala122Ser)
n.729G>T
n.724G>T
 gnomAD v4
4g.134200830C>GCA358375624PABPC4Lc.190G>C (p.Ala64Pro)
c.364G>C (p.Ala122Pro)
n.729G>C
n.724G>C
4g.134200830C>TCA358375625PABPC4Lc.190G>A (p.Ala64Thr)
c.364G>A (p.Ala122Thr)
n.729G>A
n.724G>A
 gnomAD v4
4g.134200831A>CCA358375626PABPC4Lc.189T>G (p.Asp63Glu)
c.363T>G (p.Asp121Glu)
n.728T>G
n.723T>G
4g.134200831A>GCA441362092PABPC4Lc.189T>C (p.Asp63=)
c.363T>C (p.Asp121=)
n.728T>C
n.723T>C
4g.134200831A>TCA358375627PABPC4Lc.189T>A (p.Asp63Glu)
c.363T>A (p.Asp121Glu)
n.728T>A
n.723T>A
4g.134200832T>ACA358375628PABPC4Lc.188A>T (p.Asp63Val)
c.362A>T (p.Asp121Val)
n.727A>T
n.722A>T
4g.134200832T>CCA358375629PABPC4Lc.188A>G (p.Asp63Gly)
c.362A>G (p.Asp121Gly)
n.727A>G
n.722A>G
 dbSNP
4g.134200832T>GCA358375630PABPC4Lc.188A>C (p.Asp63Ala)
c.362A>C (p.Asp121Ala)
n.727A>C
n.722A>C
4g.134200832T=CA1495815131PABPC4Lc.188A= (p.Asp63=)
c.362A= (p.Asp121=)
n.727A=
n.722A=
4g.134200833C>ACA358375631PABPC4Lc.187G>T (p.Asp63Tyr)
c.361G>T (p.Asp121Tyr)
n.726G>T
n.721G>T
4g.134200833C>GCA358375632PABPC4Lc.187G>C (p.Asp63His)
c.361G>C (p.Asp121His)
n.726G>C
n.721G>C
4g.134200833C>TCA358375633PABPC4Lc.187G>A (p.Asp63Asn)
c.361G>A (p.Asp121Asn)
n.726G>A
n.721G>A
4g.134200834A>CCA441362093PABPC4Lc.186T>G (p.Ala62=)
c.360T>G (p.Ala120=)
n.725T>G
n.720T>G
4g.134200834A>GCA441362094PABPC4Lc.186T>C (p.Ala62=)
c.360T>C (p.Ala120=)
n.725T>C
n.720T>C
 gnomAD v4
4g.134200834A>TCA441362095PABPC4Lc.186T>A (p.Ala62=)
c.360T>A (p.Ala120=)
n.725T>A
n.720T>A
4g.134200835G>ACA358375634PABPC4Lc.185C>T (p.Ala62Val)
c.359C>T (p.Ala120Val)
n.724C>T
n.719C>T
 gnomAD v4
4g.134200835G>CCA358375635PABPC4Lc.185C>G (p.Ala62Gly)
c.359C>G (p.Ala120Gly)
n.724C>G
n.719C>G
4g.134200835G>TCA358375636PABPC4Lc.185C>A (p.Ala62Asp)
c.359C>A (p.Ala120Asp)
n.724C>A
n.719C>A
 gnomAD v4
4g.134200836C>ACA358375637PABPC4Lc.184G>T (p.Ala62Ser)
c.358G>T (p.Ala120Ser)
n.723G>T
n.718G>T
 gnomAD v4
4g.134200836C=CA1495815135PABPC4Lc.184G= (p.Ala62=)
c.358G= (p.Ala120=)
n.723G=
n.718G=
4g.134200836C>GCA358375638PABPC4Lc.184G>C (p.Ala62Pro)
c.358G>C (p.Ala120Pro)
n.723G>C
n.718G>C
4g.134200836C>TCA3081087PABPC4Lc.184G>A (p.Ala62Thr)
c.358G>A (p.Ala120Thr)
n.723G>A
n.718G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200837C>ACA441362096PABPC4Lc.183G>T (p.Leu61=)
c.357G>T (p.Leu119=)
n.722G>T
n.717G>T
 gnomAD v4
4g.134200837C>GCA441362098PABPC4Lc.183G>C (p.Leu61=)
c.357G>C (p.Leu119=)
n.722G>C
n.717G>C
4g.134200837C>TCA441362097PABPC4Lc.183G>A (p.Leu61=)
c.357G>A (p.Leu119=)
n.722G>A
n.717G>A
 gnomAD v4
4g.134200838A=CA1495815139PABPC4Lc.182T= (p.Leu61=)
c.356T= (p.Leu119=)
n.721T=
n.716T=
4g.134200838A>CCA358375640PABPC4Lc.182T>G (p.Leu61Arg)
c.356T>G (p.Leu119Arg)
n.721T>G
n.716T>G
4g.134200838A>GCA358375641PABPC4Lc.182T>C (p.Leu61Pro)
c.356T>C (p.Leu119Pro)
n.721T>C
n.716T>C
 dbSNP gnomAD v2 gnomAD v4
4g.134200838A>TCA358375639PABPC4Lc.182T>A (p.Leu61Gln)
c.356T>A (p.Leu119Gln)
n.721T>A
n.716T>A
4g.134200839G>ACA441362099PABPC4Lc.181C>T (p.Leu61=)
c.355C>T (p.Leu119=)
n.720C>T
n.715C>T
 dbSNP gnomAD v2
4g.134200839G>CCA358375642PABPC4Lc.181C>G (p.Leu61Val)
c.355C>G (p.Leu119Val)
n.720C>G
n.715C>G
4g.134200839G=CA1495815142PABPC4Lc.181C= (p.Leu61=)
c.355C= (p.Leu119=)
n.720C=
n.715C=
4g.134200839G>TCA358375643PABPC4Lc.181C>A (p.Leu61Met)
c.355C>A (p.Leu119Met)
n.720C>A
n.715C>A
4g.134200840C>ACA358375644PABPC4Lc.180G>T (p.Gln60His)
c.354G>T (p.Gln118His)
n.719G>T
n.714G>T
 gnomAD v4
4g.134200840C>GCA358375645PABPC4Lc.180G>C (p.Gln60His)
c.354G>C (p.Gln118His)
n.719G>C
n.714G>C
4g.134200840C>TCA441362100PABPC4Lc.180G>A (p.Gln60=)
c.354G>A (p.Gln118=)
n.719G>A
n.714G>A
 gnomAD v4
4g.134200841T>ACA358375646PABPC4Lc.179A>T (p.Gln60Leu)
c.353A>T (p.Gln118Leu)
n.718A>T
n.713A>T
 gnomAD v4
4g.134200841T>CCA358375647PABPC4Lc.179A>G (p.Gln60Arg)
c.353A>G (p.Gln118Arg)
n.718A>G
n.713A>G
4g.134200841T>GCA358375648PABPC4Lc.179A>C (p.Gln60Pro)
c.353A>C (p.Gln118Pro)
n.718A>C
n.713A>C
4g.134200842G>ACA358375649PABPC4Lc.178C>T (p.Gln60Ter)
c.352C>T (p.Gln118Ter)
n.717C>T
n.712C>T
 gnomAD v4
4g.134200842G>CCA358375650PABPC4Lc.178C>G (p.Gln60Glu)
c.352C>G (p.Gln118Glu)
n.717C>G
n.712C>G
4g.134200842G>TCA358375651PABPC4Lc.178C>A (p.Gln60Lys)
c.352C>A (p.Gln118Lys)
n.717C>A
n.712C>A
 gnomAD v4
4g.134200843C>ACA358375652PABPC4Lc.177G>T (p.Leu59Phe)
c.351G>T (p.Leu117Phe)
n.716G>T
n.711G>T
 gnomAD v4
4g.134200843C>GCA358375653PABPC4Lc.177G>C (p.Leu59Phe)
c.351G>C (p.Leu117Phe)
n.716G>C
n.711G>C
4g.134200843C>TCA441362101PABPC4Lc.177G>A (p.Leu59=)
c.351G>A (p.Leu117=)
n.716G>A
n.711G>A
 gnomAD v4
4g.134200844A>CCA358375655PABPC4Lc.176T>G (p.Leu59Trp)
c.350T>G (p.Leu117Trp)
n.715T>G
n.710T>G
4g.134200844A>GCA358375656PABPC4Lc.176T>C (p.Leu59Ser)
c.350T>C (p.Leu117Ser)
n.715T>C
n.710T>C
 gnomAD v4
4g.134200844A>TCA358375654PABPC4Lc.176T>A (p.Leu59Ter)
c.350T>A (p.Leu117Ter)
n.715T>A
n.710T>A
 COSMIC COSMIC
4g.134200847_134200849delCA2763628677PABPC4Lc.174_176del (p.Phe58del)
c.348_350del (p.Phe116del)
n.713_715del
n.708_710del
4g.134200845A=CA1495815144PABPC4Lc.175T= (p.Leu59=)
c.349T= (p.Leu117=)
n.714T=
n.709T=
4g.134200845A>CCA358375657PABPC4Lc.175T>G (p.Leu59Val)
c.349T>G (p.Leu117Val)
n.714T>G
n.709T>G
4g.134200845A>GCA441362103PABPC4Lc.175T>C (p.Leu59=)
c.349T>C (p.Leu117=)
n.714T>C
n.709T>C
 dbSNP
4g.134200845A>TCA358375658PABPC4Lc.175T>A (p.Leu59Met)
c.349T>A (p.Leu117Met)
n.714T>A
n.709T>A
 gnomAD v4
4g.134200846G>ACA441362104PABPC4Lc.174C>T (p.Phe58=)
c.348C>T (p.Phe116=)
n.713C>T
n.708C>T
 dbSNP gnomAD v2
4g.134200846G>CCA358375659PABPC4Lc.174C>G (p.Phe58Leu)
c.348C>G (p.Phe116Leu)
n.713C>G
n.708C>G
 COSMIC COSMIC
4g.134200846G=CA1495815148PABPC4Lc.174C= (p.Phe58=)
c.348C= (p.Phe116=)
n.713C=
n.708C=
4g.134200846G>TCA358375660PABPC4Lc.174C>A (p.Phe58Leu)
c.348C>A (p.Phe116Leu)
n.713C>A
n.708C>A
 gnomAD v4
4g.134200847A>CCA358375661PABPC4Lc.173T>G (p.Phe58Cys)
c.347T>G (p.Phe116Cys)
n.712T>G
n.707T>G
4g.134200847A>GCA358375662PABPC4Lc.173T>C (p.Phe58Ser)
c.347T>C (p.Phe116Ser)
n.712T>C
n.707T>C
 gnomAD v4
4g.134200847A>TCA358375663PABPC4Lc.173T>A (p.Phe58Tyr)
c.347T>A (p.Phe116Tyr)
n.712T>A
n.707T>A
 COSMIC COSMIC
4g.134200848A>CCA358375664PABPC4Lc.172T>G (p.Phe58Val)
c.346T>G (p.Phe116Val)
n.711T>G
n.706T>G
4g.134200848A>GCA358375666PABPC4Lc.172T>C (p.Phe58Leu)
c.346T>C (p.Phe116Leu)
n.711T>C
n.706T>C
4g.134200848A>TCA358375665PABPC4Lc.172T>A (p.Phe58Ile)
c.346T>A (p.Phe116Ile)
n.711T>A
n.706T>A
4g.134200849G>ACA441362105PABPC4Lc.171C>T (p.Asn57=)
c.345C>T (p.Asn115=)
n.710C>T
n.705C>T
4g.134200849G>CCA358375667PABPC4Lc.171C>G (p.Asn57Lys)
c.345C>G (p.Asn115Lys)
n.710C>G
n.705C>G
4g.134200849G>TCA358375668PABPC4Lc.171C>A (p.Asn57Lys)
c.345C>A (p.Asn115Lys)
n.710C>A
n.705C>A
 gnomAD v4
4g.134200850T>ACA358375669PABPC4Lc.170A>T (p.Asn57Ile)
c.344A>T (p.Asn115Ile)
n.709A>T
n.704A>T
 gnomAD v4
4g.134200850T>CCA358375670PABPC4Lc.170A>G (p.Asn57Ser)
c.344A>G (p.Asn115Ser)
n.709A>G
n.704A>G
 gnomAD v4
4g.134200850T>GCA358375671PABPC4Lc.170A>C (p.Asn57Thr)
c.344A>C (p.Asn115Thr)
n.709A>C
n.704A>C
4g.134200851T>ACA358375673PABPC4Lc.169A>T (p.Asn57Tyr)
c.343A>T (p.Asn115Tyr)
n.708A>T
n.703A>T
4g.134200851T>CCA358375674PABPC4Lc.169A>G (p.Asn57Asp)
c.343A>G (p.Asn115Asp)
n.708A>G
n.703A>G
 dbSNP gnomAD v3 gnomAD v4
4g.134200851T>GCA358375672PABPC4Lc.169A>C (p.Asn57His)
c.343A>C (p.Asn115His)
n.708A>C
n.703A>C
4g.134200851T=CA1495815151PABPC4Lc.169A= (p.Asn57=)
c.343A= (p.Asn115=)
n.708A=
n.703A=
4g.134200852C>ACA441362106PABPC4Lc.168G>T (p.Val56=)
c.342G>T (p.Val114=)
n.707G>T
n.702G>T
 gnomAD v4 COSMIC COSMIC
4g.134200852C>GCA441362107PABPC4Lc.168G>C (p.Val56=)
c.342G>C (p.Val114=)
n.707G>C
n.702G>C
4g.134200852C>TCA441362108PABPC4Lc.168G>A (p.Val56=)
c.342G>A (p.Val114=)
n.707G>A
n.702G>A
 gnomAD v4
4g.134200853A>CCA358375676PABPC4Lc.167T>G (p.Val56Gly)
c.341T>G (p.Val114Gly)
n.706T>G
n.701T>G
4g.134200853A>GCA358375675PABPC4Lc.167T>C (p.Val56Ala)
c.341T>C (p.Val114Ala)
n.706T>C
n.701T>C
 gnomAD v4
4g.134200853A>TCA358375677PABPC4Lc.167T>A (p.Val56Glu)
c.341T>A (p.Val114Glu)
n.706T>A
n.701T>A
4g.134200854C>ACA358375678PABPC4Lc.166G>T (p.Val56Leu)
c.340G>T (p.Val114Leu)
n.705G>T
n.700G>T
 gnomAD v4 COSMIC COSMIC
4g.134200854C=CA1495815156PABPC4Lc.166G= (p.Val56=)
c.340G= (p.Val114=)
n.705G=
n.700G=
4g.134200854C>GCA358375680PABPC4Lc.166G>C (p.Val56Leu)
c.340G>C (p.Val114Leu)
n.705G>C
n.700G>C
 gnomAD v4
4g.134200854C>TCA358375679PABPC4Lc.166G>A (p.Val56Met)
c.340G>A (p.Val114Met)
n.705G>A
n.700G>A
 dbSNP gnomAD v4
4g.134200855G>ACA441362109PABPC4Lc.165C>T (p.Tyr55=)
c.339C>T (p.Tyr113=)
n.704C>T
n.699C>T
 dbSNP gnomAD v2 gnomAD v4
4g.134200855G>CCA358375681PABPC4Lc.165C>G (p.Tyr55Ter)
c.339C>G (p.Tyr113Ter)
n.704C>G
n.699C>G
 COSMIC COSMIC
4g.134200855G=CA1495815159PABPC4Lc.165C= (p.Tyr55=)
c.339C= (p.Tyr113=)
n.704C=
n.699C=
4g.134200855G>TCA358375682PABPC4Lc.165C>A (p.Tyr55Ter)
c.339C>A (p.Tyr113Ter)
n.704C>A
n.699C>A
 gnomAD v4
4g.134200856T>ACA358375683PABPC4Lc.164A>T (p.Tyr55Phe)
c.338A>T (p.Tyr113Phe)
n.703A>T
n.698A>T
4g.134200856T>CCA358375684PABPC4Lc.164A>G (p.Tyr55Cys)
c.338A>G (p.Tyr113Cys)
n.703A>G
n.698A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200856T>GCA358375685PABPC4Lc.164A>C (p.Tyr55Ser)
c.338A>C (p.Tyr113Ser)
n.703A>C
n.698A>C
4g.134200856T=CA1495815162PABPC4Lc.164A= (p.Tyr55=)
c.338A= (p.Tyr113=)
n.703A=
n.698A=
4g.134200857A=CA1495815167PABPC4Lc.163T= (p.Tyr55=)
c.337T= (p.Tyr113=)
n.702T=
n.697T=
4g.134200857A>CCA358375686PABPC4Lc.163T>G (p.Tyr55Asp)
c.337T>G (p.Tyr113Asp)
n.702T>G
n.697T>G
4g.134200857A>GCA358375687PABPC4Lc.163T>C (p.Tyr55His)
c.337T>C (p.Tyr113His)
n.702T>C
n.697T>C
 dbSNP gnomAD v4
4g.134200857A>TCA358375688PABPC4Lc.163T>A (p.Tyr55Asn)
c.337T>A (p.Tyr113Asn)
n.702T>A
n.697T>A
4g.134200858G>ACA441362110PABPC4Lc.162C>T (p.Ala54=)
c.336C>T (p.Ala112=)
n.701C>T
n.696C>T
 dbSNP
4g.134200858G>CCA441362111PABPC4Lc.162C>G (p.Ala54=)
c.336C>G (p.Ala112=)
n.701C>G
n.696C>G
4g.134200858G=CA1495815168PABPC4Lc.162C= (p.Ala54=)
c.336C= (p.Ala112=)
n.701C=
n.696C=
4g.134200858G>TCA441362112PABPC4Lc.162C>A (p.Ala54=)
c.336C>A (p.Ala112=)
n.701C>A
n.696C>A
 gnomAD v4
4g.134200859G>ACA358375689PABPC4Lc.161C>T (p.Ala54Val)
c.335C>T (p.Ala112Val)
n.700C>T
n.695C>T
 dbSNP gnomAD v4
4g.134200859G>CCA358375690PABPC4Lc.161C>G (p.Ala54Gly)
c.335C>G (p.Ala112Gly)
n.700C>G
n.695C>G
4g.134200859G=CA1495815170PABPC4Lc.161C= (p.Ala54=)
c.335C= (p.Ala112=)
n.700C=
n.695C=
4g.134200859G>TCA358375691PABPC4Lc.161C>A (p.Ala54Asp)
c.335C>A (p.Ala112Asp)
n.700C>A
n.695C>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200860C>ACA358375694PABPC4Lc.160G>T (p.Ala54Ser)
c.334G>T (p.Ala112Ser)
n.699G>T
n.694G>T
 gnomAD v4
4g.134200860C>GCA358375693PABPC4Lc.160G>C (p.Ala54Pro)
c.334G>C (p.Ala112Pro)
n.699G>C
n.694G>C
4g.134200860C>TCA358375692PABPC4Lc.160G>A (p.Ala54Thr)
c.334G>A (p.Ala112Thr)
n.699G>A
n.694G>A
 gnomAD v4
4g.134200860_134200868delCA2578196355PABPC4Lc.152_160del (p.Leu51_Ala54delinsPro)
c.326_334del (p.Leu109_Ala112delinsPro)
n.691_699del
n.686_694del
 gnomAD v4
4g.134200861A>CCA358375695PABPC4Lc.159T>G (p.Tyr53Ter)
c.333T>G (p.Tyr111Ter)
n.698T>G
n.693T>G
4g.134200861A>GCA441362113PABPC4Lc.159T>C (p.Tyr53=)
c.333T>C (p.Tyr111=)
n.698T>C
n.693T>C
4g.134200861A>TCA358375696PABPC4Lc.159T>A (p.Tyr53Ter)
c.333T>A (p.Tyr111Ter)
n.698T>A
n.693T>A
4g.134200862T>ACA358375697PABPC4Lc.158A>T (p.Tyr53Phe)
c.332A>T (p.Tyr111Phe)
n.697A>T
n.692A>T
 gnomAD v4
4g.134200862T>CCA358375698PABPC4Lc.158A>G (p.Tyr53Cys)
c.332A>G (p.Tyr111Cys)
n.697A>G
n.692A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200862T>GCA358375699PABPC4Lc.158A>C (p.Tyr53Ser)
c.332A>C (p.Tyr111Ser)
n.697A>C
n.692A>C
4g.134200862T=CA1495815174PABPC4Lc.158A= (p.Tyr53=)
c.332A= (p.Tyr111=)
n.697A=
n.692A=
4g.134200863A>CCA358375700PABPC4Lc.157T>G (p.Tyr53Asp)
c.331T>G (p.Tyr111Asp)
n.696T>G
n.691T>G
4g.134200863A>GCA358375701PABPC4Lc.157T>C (p.Tyr53His)
c.331T>C (p.Tyr111His)
n.696T>C
n.691T>C
 gnomAD v4
4g.134200863A>TCA358375702PABPC4Lc.157T>A (p.Tyr53Asn)
c.331T>A (p.Tyr111Asn)
n.696T>A
n.691T>A
4g.134200864G>ACA441362114PABPC4Lc.156C>T (p.Gly52=)
c.330C>T (p.Gly110=)
n.695C>T
n.690C>T
 dbSNP gnomAD v4
4g.134200864G>CCA441362115PABPC4Lc.156C>G (p.Gly52=)
c.330C>G (p.Gly110=)
n.695C>G
n.690C>G
 gnomAD v4
4g.134200864G>TCA441362116PABPC4Lc.156C>A (p.Gly52=)
c.330C>A (p.Gly110=)
n.695C>A
n.690C>A
 gnomAD v4
4g.134200865C>ACA358375703PABPC4Lc.155G>T (p.Gly52Val)
c.329G>T (p.Gly110Val)
n.694G>T
n.689G>T
 gnomAD v4
4g.134200865C=CA1495815179PABPC4Lc.155G= (p.Gly52=)
c.329G= (p.Gly110=)
n.694G=
n.689G=
4g.134200865C>GCA358375704PABPC4Lc.155G>C (p.Gly52Ala)
c.329G>C (p.Gly110Ala)
n.694G>C
n.689G>C
 dbSNP
4g.134200865C>TCA358375705PABPC4Lc.155G>A (p.Gly52Asp)
c.329G>A (p.Gly110Asp)
n.694G>A
n.689G>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200867delCA2672091057PABPC4Lc.155del (p.Gly52AlafsTer5)
c.329del (p.Gly110AlafsTer5)
n.694del
n.689del
 gnomAD v4
4g.134200866C>ACA358375708PABPC4Lc.154G>T (p.Gly52Cys)
c.328G>T (p.Gly110Cys)
n.693G>T
n.688G>T
 gnomAD v4
4g.134200866C>GCA358375707PABPC4Lc.154G>C (p.Gly52Arg)
c.328G>C (p.Gly110Arg)
n.693G>C
n.688G>C
 gnomAD v4
4g.134200866C>TCA358375706PABPC4Lc.154G>A (p.Gly52Ser)
c.328G>A (p.Gly110Ser)
n.693G>A
n.688G>A
4g.134200867C>ACA441362117PABPC4Lc.153G>T (p.Leu51=)
c.327G>T (p.Leu109=)
n.692G>T
n.687G>T
 gnomAD v4
4g.134200867C=CA1495815183PABPC4Lc.153G= (p.Leu51=)
c.327G= (p.Leu109=)
n.692G=
n.687G=
4g.134200867C>GCA441362118PABPC4Lc.153G>C (p.Leu51=)
c.327G>C (p.Leu109=)
n.692G>C
n.687G>C
4g.134200867C>TCA441362119PABPC4Lc.153G>A (p.Leu51=)
c.327G>A (p.Leu109=)
n.692G>A
n.687G>A
 dbSNP gnomAD v3 gnomAD v4
4g.134200868A>CCA358375709PABPC4Lc.152T>G (p.Leu51Arg)
c.326T>G (p.Leu109Arg)
n.691T>G
n.686T>G
4g.134200868A>GCA358375710PABPC4Lc.152T>C (p.Leu51Pro)
c.326T>C (p.Leu109Pro)
n.691T>C
n.686T>C
4g.134200868A>TCA358375711PABPC4Lc.152T>A (p.Leu51Gln)
c.326T>A (p.Leu109Gln)
n.691T>A
n.686T>A
4g.134200869G>ACA441362120PABPC4Lc.151C>T (p.Leu51=)
c.325C>T (p.Leu109=)
n.690C>T
n.685C>T
 gnomAD v4
4g.134200869G>CCA358375712PABPC4Lc.151C>G (p.Leu51Val)
c.325C>G (p.Leu109Val)
n.690C>G
n.685C>G
 gnomAD v4
4g.134200869G=CA1495815186PABPC4Lc.151C= (p.Leu51=)
c.325C= (p.Leu109=)
n.690C=
n.685C=
4g.134200869G>TCA3081088PABPC4Lc.151C>A (p.Leu51Met)
c.325C>A (p.Leu109Met)
n.690C>A
n.685C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.134200870A=CA1495815187PABPC4Lc.150T= (p.Ser50=)
c.324T= (p.Ser108=)
n.689T=
n.684T=
4g.134200870A>CCA441362123PABPC4Lc.150T>G (p.Ser50=)
c.324T>G (p.Ser108=)
n.689T>G
n.684T>G
 dbSNP gnomAD v3 gnomAD v4
4g.134200870A>GCA441362121PABPC4Lc.150T>C (p.Ser50=)
c.324T>C (p.Ser108=)
n.689T>C
n.684T>C
 gnomAD v4
4g.134200870A>TCA441362122PABPC4Lc.150T>A (p.Ser50=)
c.324T>A (p.Ser108=)
n.689T>A
n.684T>A
4g.134200871G>ACA358375713PABPC4Lc.149C>T (p.Ser50Phe)
c.323C>T (p.Ser108Phe)
n.688C>T
n.683C>T
4g.134200871G>CCA358375714PABPC4Lc.149C>G (p.Ser50Cys)
c.323C>G (p.Ser108Cys)
n.688C>G
n.683C>G
4g.134200871G>TCA358375715PABPC4Lc.149C>A (p.Ser50Tyr)
c.323C>A (p.Ser108Tyr)
n.688C>A
n.683C>A
 gnomAD v4
4g.134200872A>CCA358375716PABPC4Lc.148T>G (p.Ser50Ala)
c.322T>G (p.Ser108Ala)
n.687T>G
n.682T>G
4g.134200872A>GCA358375717PABPC4Lc.148T>C (p.Ser50Pro)
c.322T>C (p.Ser108Pro)
n.687T>C
n.682T>C
 gnomAD v4
4g.134200872A>TCA358375718PABPC4Lc.148T>A (p.Ser50Thr)
c.322T>A (p.Ser108Thr)
n.687T>A
n.682T>A
4g.134200873G>ACA441362124PABPC4Lc.147C>T (p.Arg49=)
c.321C>T (p.Arg107=)
n.686C>T
n.681C>T
4g.134200873G>CCA441362125PABPC4Lc.147C>G (p.Arg49=)
c.321C>G (p.Arg107=)
n.686C>G
n.681C>G
4g.134200873G>TCA441362126PABPC4Lc.147C>A (p.Arg49=)
c.321C>A (p.Arg107=)
n.686C>A
n.681C>A
 gnomAD v4
4g.134200874C>ACA3081089PABPC4Lc.146G>T (p.Arg49Leu)
c.320G>T (p.Arg107Leu)
n.685G>T
n.680G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.134200874C=CA1495815191PABPC4Lc.146G= (p.Arg49=)
c.320G= (p.Arg107=)
n.685G=
n.680G=
4g.134200874C>GCA358375720PABPC4Lc.146G>C (p.Arg49Pro)
c.320G>C (p.Arg107Pro)
n.685G>C
n.680G>C
4g.134200874C>TCA358375719PABPC4Lc.146G>A (p.Arg49His)
c.320G>A (p.Arg107His)
n.685G>A
n.680G>A
 gnomAD v4
4g.134200874_134200875delinsCGCA1495815194PABPC4Lc.145_146delinsCG (p.Arg49=)
c.319_320delinsCG (p.Arg107=)
n.684_685delinsCG
n.679_680delinsCG
4g.134200875G>ACA358375721PABPC4Lc.145C>T (p.Arg49Cys)
c.319C>T (p.Arg107Cys)
n.684C>T
n.679C>T
 dbSNP gnomAD v4
4g.134200875G>CCA358375722PABPC4Lc.145C>G (p.Arg49Gly)
c.319C>G (p.Arg107Gly)
n.684C>G
n.679C>G
4g.134200875G=CA1495815199PABPC4Lc.145C= (p.Arg49=)
c.319C= (p.Arg107=)
n.684C=
n.679C=
4g.134200875G>TCA358375723PABPC4Lc.145C>A (p.Arg49Ser)
c.319C>A (p.Arg107Ser)
n.684C>A
n.679C>A
 gnomAD v4
4g.134200876delCA787526698PABPC4Lc.145del (p.Arg49AlafsTer8)
c.319del (p.Arg107AlafsTer8)
n.684del
n.679del
 dbSNP gnomAD v3 gnomAD v4
4g.134200876G>ACA441362127PABPC4Lc.144C>T (p.Arg48=)
c.318C>T (p.Arg106=)
n.683C>T
n.678C>T
 gnomAD v4
4g.134200876G>CCA441362128PABPC4Lc.144C>G (p.Arg48=)
c.318C>G (p.Arg106=)
n.683C>G
n.678C>G
 gnomAD v4
4g.134200876G>TCA441362129PABPC4Lc.144C>A (p.Arg48=)
c.318C>A (p.Arg106=)
n.683C>A
n.678C>A
 gnomAD v4
4g.134200877delCA2672091058PABPC4Lc.143del (p.Arg48ProfsTer9)
c.317del (p.Arg106ProfsTer9)
n.682del
n.677del
 gnomAD v4
4g.134200877C>ACA358375724PABPC4Lc.143G>T (p.Arg48Leu)
c.317G>T (p.Arg106Leu)
n.682G>T
n.677G>T
 dbSNP gnomAD v2 gnomAD v4
4g.134200877C=CA1495815202PABPC4Lc.143G= (p.Arg48=)
c.317G= (p.Arg106=)
n.682G=
n.677G=
4g.134200877C>GCA358375725PABPC4Lc.143G>C (p.Arg48Pro)
c.317G>C (p.Arg106Pro)
n.682G>C
n.677G>C
4g.134200877C>TCA106325859PABPC4Lc.143G>A (p.Arg48His)
c.317G>A (p.Arg106His)
n.682G>A
n.677G>A
 dbSNP gnomAD v4
4g.134200878G>ACA358375726PABPC4Lc.142C>T (p.Arg48Cys)
c.316C>T (p.Arg106Cys)
n.681C>T
n.676C>T
 gnomAD v4
4g.134200878G>CCA358375727PABPC4Lc.142C>G (p.Arg48Gly)
c.316C>G (p.Arg106Gly)
n.681C>G
n.676C>G
 dbSNP gnomAD v4
4g.134200878G=CA1495815207PABPC4Lc.142C= (p.Arg48=)
c.316C= (p.Arg106=)
n.681C=
n.676C=
4g.134200878G>TCA358375728PABPC4Lc.142C>A (p.Arg48Ser)
c.316C>A (p.Arg106Ser)
n.681C>A
n.676C>A
 gnomAD v4
4g.134200880dupCA106325861PABPC4Lc.142dup (p.Arg48ProfsTer16)
c.316dup (p.Arg106ProfsTer16)
n.681dup
n.676dup
 dbSNP
4g.134200880delCA2672091059PABPC4Lc.142del (p.Arg48AlafsTer9)
c.316del (p.Arg106AlafsTer9)
n.681del
n.676del
 gnomAD v4
4g.134200878_134200886delinsGGGTGACCTCA1495815205PABPC4Lc.134_142delinsAGGTCACCC (p.Gln45=)
c.308_316delinsAGGTCACCC (p.Gln103=)
n.673_681delinsAGGTCACCC
n.668_676delinsAGGTCACCC
4g.134200879G>ACA441362130PABPC4Lc.141C>T (p.Thr47=)
c.315C>T (p.Thr105=)
n.680C>T
n.675C>T
 gnomAD v4
4g.134200879G>CCA441362131PABPC4Lc.141C>G (p.Thr47=)
c.315C>G (p.Thr105=)
n.680C>G
n.675C>G
4g.134200879G>TCA441362132PABPC4Lc.141C>A (p.Thr47=)
c.315C>A (p.Thr105=)
n.680C>A
n.675C>A
 gnomAD v4
4g.134200882_134200889delCA1495815209PABPC4Lc.134_141del (p.Gln45ProfsTer16)
c.308_315del (p.Gln103ProfsTer16)
n.673_680del
n.668_675del
 dbSNP
4g.134200880G>ACA3081090PABPC4Lc.140C>T (p.Thr47Ile)
c.314C>T (p.Thr105Ile)
n.679C>T
n.674C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.134200880G>CCA358375729PABPC4Lc.140C>G (p.Thr47Ser)
c.314C>G (p.Thr105Ser)
n.679C>G
n.674C>G
 gnomAD v4
4g.134200880G=CA1495815211PABPC4Lc.140C= (p.Thr47=)
c.314C= (p.Thr105=)
n.679C=
n.674C=
4g.134200880G>TCA358375730PABPC4Lc.140C>A (p.Thr47Asn)
c.314C>A (p.Thr105Asn)
n.679C>A
n.674C>A
4g.134200881T>ACA358375731PABPC4Lc.139A>T (p.Thr47Ser)
c.313A>T (p.Thr105Ser)
n.678A>T
n.673A>T
 gnomAD v4
4g.134200881T>CCA358375732PABPC4Lc.139A>G (p.Thr47Ala)
c.313A>G (p.Thr105Ala)
n.678A>G
n.673A>G
 gnomAD v4
4g.134200881T>GCA3081091PABPC4Lc.139A>C (p.Thr47Pro)
c.313A>C (p.Thr105Pro)
n.678A>C
n.673A>C
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.134200881T=CA1495815215PABPC4Lc.139A= (p.Thr47=)
c.313A= (p.Thr105=)
n.678A=
n.673A=
4g.134200882G>ACA441362133PABPC4Lc.138C>T (p.Val46=)
c.312C>T (p.Val104=)
n.677C>T
n.672C>T
 gnomAD v4
4g.134200882G>CCA441362134PABPC4Lc.138C>G (p.Val46=)
c.312C>G (p.Val104=)
n.677C>G
n.672C>G
4g.134200882G>TCA441362135PABPC4Lc.138C>A (p.Val46=)
c.312C>A (p.Val104=)
n.677C>A
n.672C>A
4g.134200882_134200886delinsGACCTCA1495815220PABPC4Lc.134_138delinsAGGTC (p.Gln45=)
c.308_312delinsAGGTC (p.Gln103=)
n.673_677delinsAGGTC
n.668_672delinsAGGTC
4g.134200883A=CA1495815224PABPC4Lc.137T= (p.Val46=)
c.311T= (p.Val104=)
n.676T=
n.671T=
4g.134200883A>CCA358375735PABPC4Lc.137T>G (p.Val46Gly)
c.311T>G (p.Val104Gly)
n.676T>G
n.671T>G
4g.134200883A>GCA358375733PABPC4Lc.137T>C (p.Val46Ala)
c.311T>C (p.Val104Ala)
n.676T>C
n.671T>C
 dbSNP gnomAD v4
4g.134200883A>TCA358375734PABPC4Lc.137T>A (p.Val46Asp)
c.311T>A (p.Val104Asp)
n.676T>A
n.671T>A
 gnomAD v4
4g.134200883_134200886delCA555019103PABPC4Lc.134_137del (p.Gln45ProfsTer11)
c.308_311del (p.Gln103ProfsTer11)
n.673_676del
n.668_671del
 dbSNP gnomAD v2
4g.134200884C>ACA358375736PABPC4Lc.136G>T (p.Val46Phe)
c.310G>T (p.Val104Phe)
n.675G>T
n.670G>T
4g.134200884C=CA1495815227PABPC4Lc.136G= (p.Val46=)
c.310G= (p.Val104=)
n.675G=
n.670G=
4g.134200884C>GCA358375737PABPC4Lc.136G>C (p.Val46Leu)
c.310G>C (p.Val104Leu)
n.675G>C
n.670G>C
 gnomAD v4
4g.134200884C>TCA358375738PABPC4Lc.136G>A (p.Val46Ile)
c.310G>A (p.Val104Ile)
n.675G>A
n.670G>A
 dbSNP gnomAD v2
4g.134200885C>ACA358375739PABPC4Lc.135G>T (p.Gln45His)
c.309G>T (p.Gln103His)
n.674G>T
n.669G>T
4g.134200885C=CA1495815229PABPC4Lc.135G= (p.Gln45=)
c.309G= (p.Gln103=)
n.674G=
n.669G=
4g.134200885C>GCA358375740PABPC4Lc.135G>C (p.Gln45His)
c.309G>C (p.Gln103His)
n.674G>C
n.669G>C
4g.134200885C>TCA106325865PABPC4Lc.135G>A (p.Gln45=)
c.309G>A (p.Gln103=)
n.674G>A
n.669G>A
 dbSNP gnomAD v4
4g.134200886T>ACA358375741PABPC4Lc.134A>T (p.Gln45Leu)
c.308A>T (p.Gln103Leu)
n.673A>T
n.668A>T
4g.134200886T>CCA358375742PABPC4Lc.134A>G (p.Gln45Arg)
c.308A>G (p.Gln103Arg)
n.673A>G
n.668A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200886T>GCA358375743PABPC4Lc.134A>C (p.Gln45Pro)
c.308A>C (p.Gln103Pro)
n.673A>C
n.668A>C
4g.134200886T=CA1495815234PABPC4Lc.134A= (p.Gln45=)
c.308A= (p.Gln103=)
n.673A=
n.668A=
4g.134200887G>ACA358375744PABPC4Lc.133C>T (p.Gln45Ter)
c.307C>T (p.Gln103Ter)
n.672C>T
n.667C>T
 gnomAD v4
4g.134200887G>CCA358375745PABPC4Lc.133C>G (p.Gln45Glu)
c.307C>G (p.Gln103Glu)
n.672C>G
n.667C>G
4g.134200887G>TCA358375746PABPC4Lc.133C>A (p.Gln45Lys)
c.307C>A (p.Gln103Lys)
n.672C>A
n.667C>A
 gnomAD v4
4g.134200888G>ACA441362136PABPC4Lc.132C>T (p.Asp44=)
c.306C>T (p.Asp102=)
n.671C>T
n.666C>T
 dbSNP gnomAD v2 gnomAD v4
4g.134200888G>CCA358375748PABPC4Lc.132C>G (p.Asp44Glu)
c.306C>G (p.Asp102Glu)
n.671C>G
n.666C>G
4g.134200888G=CA1495815236PABPC4Lc.132C= (p.Asp44=)
c.306C= (p.Asp102=)
n.671C=
n.666C=
4g.134200888G>TCA358375747PABPC4Lc.132C>A (p.Asp44Glu)
c.306C>A (p.Asp102Glu)
n.671C>A
n.666C>A
 COSMIC COSMIC
4g.134200889T>ACA358375749PABPC4Lc.131A>T (p.Asp44Val)
c.305A>T (p.Asp102Val)
n.670A>T
n.665A>T
4g.134200889T>CCA358375750PABPC4Lc.131A>G (p.Asp44Gly)
c.305A>G (p.Asp102Gly)
n.670A>G
n.665A>G
4g.134200889T>GCA358375751PABPC4Lc.131A>C (p.Asp44Ala)
c.305A>C (p.Asp102Ala)
n.670A>C
n.665A>C

Number of alleles fetched