Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.39872386_39872387delinsATCA2259290889ZPBP2c.523_524delinsAT (p.Ile175=)
c.457_458delinsAT (p.Ile153=)
c.169_170delinsAT (p.Ile57=)
c.407-658_407-657delinsAT (n.407-658_407-657delinsAT)
n.714_715delinsAT
17g.39872387T>ACA399279799ZPBP2c.524T>A (p.Ile175Asn)
c.458T>A (p.Ile153Asn)
c.170T>A (p.Ile57Asn)
c.407-657T>A (n.407-657T>A)
n.715T>A
17g.39872387T>CCA399279802ZPBP2c.524T>C (p.Ile175Thr)
c.458T>C (p.Ile153Thr)
c.170T>C (p.Ile57Thr)
c.407-657T>C (n.407-657T>C)
n.715T>C
17g.39872387T>GCA399279803ZPBP2c.524T>G (p.Ile175Ser)
c.458T>G (p.Ile153Ser)
c.170T>G (p.Ile57Ser)
c.407-657T>G (n.407-657T>G)
n.715T>G
17g.39872389delCA8535975ZPBP2c.526del (p.Ser176LeufsTer8)
c.460del (p.Ser154LeufsTer8)
c.172del (p.Ser58LeufsTer8)
c.407-655del (n.407-655del)
n.717del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872388T>ACA499931726ZPBP2c.525T>A (p.Ile175=)
c.459T>A (p.Ile153=)
c.171T>A (p.Ile57=)
c.407-656T>A (n.407-656T>A)
n.716T>A
17g.39872388T>CCA499931727ZPBP2c.525T>C (p.Ile175=)
c.459T>C (p.Ile153=)
c.171T>C (p.Ile57=)
c.407-656T>C (n.407-656T>C)
n.716T>C
17g.39872388T>GCA399279807ZPBP2c.525T>G (p.Ile175Met)
c.459T>G (p.Ile153Met)
c.171T>G (p.Ile57Met)
c.407-656T>G (n.407-656T>G)
n.716T>G
17g.39872389T>ACA399279809ZPBP2c.526T>A (p.Ser176Thr)
c.460T>A (p.Ser154Thr)
c.172T>A (p.Ser58Thr)
c.407-655T>A (n.407-655T>A)
n.717T>A
17g.39872389T>CCA399279810ZPBP2c.526T>C (p.Ser176Pro)
c.460T>C (p.Ser154Pro)
c.172T>C (p.Ser58Pro)
c.407-655T>C (n.407-655T>C)
n.717T>C
 gnomAD v4
17g.39872389T>GCA399279811ZPBP2c.526T>G (p.Ser176Ala)
c.460T>G (p.Ser154Ala)
c.172T>G (p.Ser58Ala)
c.407-655T>G (n.407-655T>G)
n.717T>G
17g.39872390C>ACA399279812ZPBP2c.527C>A (p.Ser176Tyr)
c.461C>A (p.Ser154Tyr)
c.173C>A (p.Ser58Tyr)
c.407-654C>A (n.407-654C>A)
n.718C>A
17g.39872390C>GCA399279813ZPBP2c.527C>G (p.Ser176Cys)
c.461C>G (p.Ser154Cys)
c.173C>G (p.Ser58Cys)
c.407-654C>G (n.407-654C>G)
n.718C>G
17g.39872390C>TCA399279815ZPBP2c.527C>T (p.Ser176Phe)
c.461C>T (p.Ser154Phe)
c.173C>T (p.Ser58Phe)
c.407-654C>T (n.407-654C>T)
n.718C>T
17g.39872391T>ACA499931728ZPBP2c.528T>A (p.Ser176=)
c.462T>A (p.Ser154=)
c.174T>A (p.Ser58=)
c.407-653T>A (n.407-653T>A)
n.719T>A
17g.39872391T>CCA499931730ZPBP2c.528T>C (p.Ser176=)
c.462T>C (p.Ser154=)
c.174T>C (p.Ser58=)
c.407-653T>C (n.407-653T>C)
n.719T>C
17g.39872391T>GCA499931729ZPBP2c.528T>G (p.Ser176=)
c.462T>G (p.Ser154=)
c.174T>G (p.Ser58=)
c.407-653T>G (n.407-653T>G)
n.719T>G
17g.39872392G>ACA399279817ZPBP2c.529G>A (p.Asp177Asn)
c.463G>A (p.Asp155Asn)
c.175G>A (p.Asp59Asn)
c.407-652G>A (n.407-652G>A)
n.720G>A
17g.39872392G>CCA399279819ZPBP2c.529G>C (p.Asp177His)
c.463G>C (p.Asp155His)
c.175G>C (p.Asp59His)
c.407-652G>C (n.407-652G>C)
n.720G>C
17g.39872392G>TCA399279820ZPBP2c.529G>T (p.Asp177Tyr)
c.463G>T (p.Asp155Tyr)
c.175G>T (p.Asp59Tyr)
c.407-652G>T (n.407-652G>T)
n.720G>T
17g.39872393A>CCA399279821ZPBP2c.530A>C (p.Asp177Ala)
c.464A>C (p.Asp155Ala)
c.176A>C (p.Asp59Ala)
c.407-651A>C (n.407-651A>C)
n.721A>C
17g.39872393A>GCA399279822ZPBP2c.530A>G (p.Asp177Gly)
c.464A>G (p.Asp155Gly)
c.176A>G (p.Asp59Gly)
c.407-651A>G (n.407-651A>G)
n.721A>G
17g.39872393A>TCA399279824ZPBP2c.530A>T (p.Asp177Val)
c.464A>T (p.Asp155Val)
c.176A>T (p.Asp59Val)
c.407-651A>T (n.407-651A>T)
n.721A>T
17g.39872394T>ACA399279825ZPBP2c.531T>A (p.Asp177Glu)
c.465T>A (p.Asp155Glu)
c.177T>A (p.Asp59Glu)
c.407-650T>A (n.407-650T>A)
n.722T>A
17g.39872394T>CCA499931731ZPBP2c.531T>C (p.Asp177=)
c.465T>C (p.Asp155=)
c.177T>C (p.Asp59=)
c.407-650T>C (n.407-650T>C)
n.722T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39872394T>GCA399279828ZPBP2c.531T>G (p.Asp177Glu)
c.465T>G (p.Asp155Glu)
c.177T>G (p.Asp59Glu)
c.407-650T>G (n.407-650T>G)
n.722T>G
17g.39872394T=CA2259290890ZPBP2c.531T= (p.Asp177=)
c.465T= (p.Asp155=)
c.177T= (p.Asp59=)
c.407-650T= (n.407-650T=)
n.722T=
17g.39872395T>ACA399279834ZPBP2c.532T>A (p.Leu178Met)
c.466T>A (p.Leu156Met)
c.178T>A (p.Leu60Met)
c.407-649T>A (n.407-649T>A)
n.723T>A
17g.39872395T>CCA499931732ZPBP2c.532T>C (p.Leu178=)
c.466T>C (p.Leu156=)
c.178T>C (p.Leu60=)
c.407-649T>C (n.407-649T>C)
n.723T>C
17g.39872395T>GCA399279831ZPBP2c.532T>G (p.Leu178Val)
c.466T>G (p.Leu156Val)
c.178T>G (p.Leu60Val)
c.407-649T>G (n.407-649T>G)
n.723T>G
17g.39872396T>ACA399279837ZPBP2c.533T>A (p.Leu178Ter)
c.467T>A (p.Leu156Ter)
c.179T>A (p.Leu60Ter)
c.407-648T>A (n.407-648T>A)
n.724T>A
17g.39872396T>CCA399279842ZPBP2c.533T>C (p.Leu178Ser)
c.467T>C (p.Leu156Ser)
c.179T>C (p.Leu60Ser)
c.407-648T>C (n.407-648T>C)
n.724T>C
17g.39872396T>GCA399279839ZPBP2c.533T>G (p.Leu178Trp)
c.467T>G (p.Leu156Trp)
c.179T>G (p.Leu60Trp)
c.407-648T>G (n.407-648T>G)
n.724T>G
17g.39872397G>ACA499931733ZPBP2c.534G>A (p.Leu178=)
c.468G>A (p.Leu156=)
c.180G>A (p.Leu60=)
c.407-647G>A (n.407-647G>A)
n.725G>A
17g.39872397G>CCA399279848ZPBP2c.534G>C (p.Leu178Phe)
c.468G>C (p.Leu156Phe)
c.180G>C (p.Leu60Phe)
c.407-647G>C (n.407-647G>C)
n.725G>C
17g.39872397G>TCA399279851ZPBP2c.534G>T (p.Leu178Phe)
c.468G>T (p.Leu156Phe)
c.180G>T (p.Leu60Phe)
c.407-647G>T (n.407-647G>T)
n.725G>T
 COSMIC
17g.39872398T>ACA399279859ZPBP2c.535T>A (p.Ser179Thr)
c.469T>A (p.Ser157Thr)
c.181T>A (p.Ser61Thr)
c.407-646T>A (n.407-646T>A)
n.726T>A
17g.39872398T>CCA399279861ZPBP2c.535T>C (p.Ser179Pro)
c.469T>C (p.Ser157Pro)
c.181T>C (p.Ser61Pro)
c.407-646T>C (n.407-646T>C)
n.726T>C
17g.39872398T>GCA399279864ZPBP2c.535T>G (p.Ser179Ala)
c.469T>G (p.Ser157Ala)
c.181T>G (p.Ser61Ala)
c.407-646T>G (n.407-646T>G)
n.726T>G
17g.39872399C>ACA399279867ZPBP2c.536C>A (p.Ser179Ter)
c.470C>A (p.Ser157Ter)
c.182C>A (p.Ser61Ter)
c.407-645C>A (n.407-645C>A)
n.727C>A
17g.39872399C>GCA399279869ZPBP2c.536C>G (p.Ser179Ter)
c.470C>G (p.Ser157Ter)
c.182C>G (p.Ser61Ter)
c.407-645C>G (n.407-645C>G)
n.727C>G
17g.39872399C>TCA399279872ZPBP2c.536C>T (p.Ser179Leu)
c.470C>T (p.Ser157Leu)
c.182C>T (p.Ser61Leu)
c.407-645C>T (n.407-645C>T)
n.727C>T
17g.39872400A=CA2259290891ZPBP2c.537A= (p.Ser179=)
c.471A= (p.Ser157=)
c.183A= (p.Ser61=)
c.407-644A= (n.407-644A=)
n.728A=
17g.39872400A>CCA499931734ZPBP2c.537A>C (p.Ser179=)
c.471A>C (p.Ser157=)
c.183A>C (p.Ser61=)
c.407-644A>C (n.407-644A>C)
n.728A>C
17g.39872400A>GCA499931735ZPBP2c.537A>G (p.Ser179=)
c.471A>G (p.Ser157=)
c.183A>G (p.Ser61=)
c.407-644A>G (n.407-644A>G)
n.728A>G
 dbSNP gnomAD v3 gnomAD v4
17g.39872400A>TCA499931736ZPBP2c.537A>T (p.Ser179=)
c.471A>T (p.Ser157=)
c.183A>T (p.Ser61=)
c.407-644A>T (n.407-644A>T)
n.728A>T
17g.39872401T>ACA399279876ZPBP2c.538T>A (p.Cys180Ser)
c.472T>A (p.Cys158Ser)
c.184T>A (p.Cys62Ser)
c.407-643T>A (n.407-643T>A)
n.729T>A
17g.39872401T>CCA399279878ZPBP2c.538T>C (p.Cys180Arg)
c.472T>C (p.Cys158Arg)
c.184T>C (p.Cys62Arg)
c.407-643T>C (n.407-643T>C)
n.729T>C
 dbSNP gnomAD v4
17g.39872401T>GCA399279881ZPBP2c.538T>G (p.Cys180Gly)
c.472T>G (p.Cys158Gly)
c.184T>G (p.Cys62Gly)
c.407-643T>G (n.407-643T>G)
n.729T>G
17g.39872401T=CA2259290893ZPBP2c.538T= (p.Cys180=)
c.472T= (p.Cys158=)
c.184T= (p.Cys62=)
c.407-643T= (n.407-643T=)
n.729T=
17g.39872401_39872402delinsTGCA2259290892ZPBP2c.538_539delinsTG (p.Cys180=)
c.472_473delinsTG (p.Cys158=)
c.184_185delinsTG (p.Cys62=)
c.407-643_407-642delinsTG (n.407-643_407-642delinsTG)
n.729_730delinsTG
17g.39872402delCA8535976ZPBP2c.539del (p.Cys180SerfsTer4)
c.473del (p.Cys158SerfsTer4)
c.185del (p.Cys62SerfsTer4)
c.407-642del (n.407-642del)
n.730del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872402G>ACA8535977ZPBP2c.539G>A (p.Cys180Tyr)
c.473G>A (p.Cys158Tyr)
c.185G>A (p.Cys62Tyr)
c.407-642G>A (n.407-642G>A)
n.730G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872402G>CCA399279884ZPBP2c.539G>C (p.Cys180Ser)
c.473G>C (p.Cys158Ser)
c.185G>C (p.Cys62Ser)
c.407-642G>C (n.407-642G>C)
n.730G>C
17g.39872402G=CA2259290894ZPBP2c.539G= (p.Cys180=)
c.473G= (p.Cys158=)
c.185G= (p.Cys62=)
c.407-642G= (n.407-642G=)
n.730G=
17g.39872402G>TCA399279886ZPBP2c.539G>T (p.Cys180Phe)
c.473G>T (p.Cys158Phe)
c.185G>T (p.Cys62Phe)
c.407-642G>T (n.407-642G>T)
n.730G>T
 dbSNP
17g.39872407_39872419delCA2637649650ZPBP2c.544_556del (p.Val182HisfsTer20)
c.478_490del (p.Val160HisfsTer20)
c.190_202del (p.Val64HisfsTer20)
c.407-637_407-625del (n.407-637_407-625del)
n.735_747del
 gnomAD v4
17g.39872403C>ACA399279888ZPBP2c.540C>A (p.Cys180Ter)
c.474C>A (p.Cys158Ter)
c.186C>A (p.Cys62Ter)
c.407-641C>A (n.407-641C>A)
n.731C>A
17g.39872403C>GCA399279891ZPBP2c.540C>G (p.Cys180Trp)
c.474C>G (p.Cys158Trp)
c.186C>G (p.Cys62Trp)
c.407-641C>G (n.407-641C>G)
n.731C>G
17g.39872403C>TCA499931737ZPBP2c.540C>T (p.Cys180=)
c.474C>T (p.Cys158=)
c.186C>T (p.Cys62=)
c.407-641C>T (n.407-641C>T)
n.731C>T
 COSMIC
17g.39872404C>ACA399279894ZPBP2c.541C>A (p.His181Asn)
c.475C>A (p.His159Asn)
c.187C>A (p.His63Asn)
c.407-640C>A (n.407-640C>A)
n.732C>A
17g.39872404C>GCA399279897ZPBP2c.541C>G (p.His181Asp)
c.475C>G (p.His159Asp)
c.187C>G (p.His63Asp)
c.407-640C>G (n.407-640C>G)
n.732C>G
 gnomAD v4
17g.39872404C>TCA399279899ZPBP2c.541C>T (p.His181Tyr)
c.475C>T (p.His159Tyr)
c.187C>T (p.His63Tyr)
c.407-640C>T (n.407-640C>T)
n.732C>T
17g.39872405A=CA2259290895ZPBP2c.542A= (p.His181=)
c.476A= (p.His159=)
c.188A= (p.His63=)
c.407-639A= (n.407-639A=)
n.733A=
17g.39872405A>CCA399279903ZPBP2c.542A>C (p.His181Pro)
c.476A>C (p.His159Pro)
c.188A>C (p.His63Pro)
c.407-639A>C (n.407-639A>C)
n.733A>C
17g.39872405A>GCA399279905ZPBP2c.542A>G (p.His181Arg)
c.476A>G (p.His159Arg)
c.188A>G (p.His63Arg)
c.407-639A>G (n.407-639A>G)
n.733A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39872405A>TCA399279908ZPBP2c.542A>T (p.His181Leu)
c.476A>T (p.His159Leu)
c.188A>T (p.His63Leu)
c.407-639A>T (n.407-639A>T)
n.733A>T
17g.39872406T>ACA399279910ZPBP2c.543T>A (p.His181Gln)
c.477T>A (p.His159Gln)
c.189T>A (p.His63Gln)
c.407-638T>A (n.407-638T>A)
n.734T>A
17g.39872406T>CCA499931738ZPBP2c.543T>C (p.His181=)
c.477T>C (p.His159=)
c.189T>C (p.His63=)
c.407-638T>C (n.407-638T>C)
n.734T>C
 dbSNP gnomAD v2
17g.39872406T>GCA399279912ZPBP2c.543T>G (p.His181Gln)
c.477T>G (p.His159Gln)
c.189T>G (p.His63Gln)
c.407-638T>G (n.407-638T>G)
n.734T>G
17g.39872406T=CA2259290896ZPBP2c.543T= (p.His181=)
c.477T= (p.His159=)
c.189T= (p.His63=)
c.407-638T= (n.407-638T=)
n.734T=
17g.39872407G>ACA399279920ZPBP2c.544G>A (p.Val182Ile)
c.478G>A (p.Val160Ile)
c.190G>A (p.Val64Ile)
c.407-637G>A (n.407-637G>A)
n.735G>A
17g.39872407G>CCA399279922ZPBP2c.544G>C (p.Val182Leu)
c.478G>C (p.Val160Leu)
c.190G>C (p.Val64Leu)
c.407-637G>C (n.407-637G>C)
n.735G>C
17g.39872407G>TCA399279924ZPBP2c.544G>T (p.Val182Phe)
c.478G>T (p.Val160Phe)
c.190G>T (p.Val64Phe)
c.407-637G>T (n.407-637G>T)
n.735G>T
17g.39872408T>ACA399279931ZPBP2c.545T>A (p.Val182Asp)
c.479T>A (p.Val160Asp)
c.191T>A (p.Val64Asp)
c.407-636T>A (n.407-636T>A)
n.736T>A
17g.39872408T>CCA399279929ZPBP2c.545T>C (p.Val182Ala)
c.479T>C (p.Val160Ala)
c.191T>C (p.Val64Ala)
c.407-636T>C (n.407-636T>C)
n.736T>C
17g.39872408T>GCA399279926ZPBP2c.545T>G (p.Val182Gly)
c.479T>G (p.Val160Gly)
c.191T>G (p.Val64Gly)
c.407-636T>G (n.407-636T>G)
n.736T>G
17g.39872409C>ACA499931739ZPBP2c.546C>A (p.Val182=)
c.480C>A (p.Val160=)
c.192C>A (p.Val64=)
c.407-635C>A (n.407-635C>A)
n.737C>A
17g.39872409C=CA2259290897ZPBP2c.546C= (p.Val182=)
c.480C= (p.Val160=)
c.192C= (p.Val64=)
c.407-635C= (n.407-635C=)
n.737C=
17g.39872409C>GCA499931740ZPBP2c.546C>G (p.Val182=)
c.480C>G (p.Val160=)
c.192C>G (p.Val64=)
c.407-635C>G (n.407-635C>G)
n.737C>G
 dbSNP gnomAD v4
17g.39872409C>TCA499931741ZPBP2c.546C>T (p.Val182=)
c.480C>T (p.Val160=)
c.192C>T (p.Val64=)
c.407-635C>T (n.407-635C>T)
n.737C>T
17g.39872410A>CCA399279933ZPBP2c.547A>C (p.Ile183Leu)
c.481A>C (p.Ile161Leu)
c.193A>C (p.Ile65Leu)
c.407-634A>C (n.407-634A>C)
n.738A>C
17g.39872410A>GCA399279935ZPBP2c.547A>G (p.Ile183Val)
c.481A>G (p.Ile161Val)
c.193A>G (p.Ile65Val)
c.407-634A>G (n.407-634A>G)
n.738A>G
 gnomAD v4
17g.39872410A>TCA399279938ZPBP2c.547A>T (p.Ile183Leu)
c.481A>T (p.Ile161Leu)
c.193A>T (p.Ile65Leu)
c.407-634A>T (n.407-634A>T)
n.738A>T
17g.39872411T>ACA399279940ZPBP2c.548T>A (p.Ile183Lys)
c.482T>A (p.Ile161Lys)
c.194T>A (p.Ile65Lys)
c.407-633T>A (n.407-633T>A)
n.739T>A
17g.39872411T>CCA399279942ZPBP2c.548T>C (p.Ile183Thr)
c.482T>C (p.Ile161Thr)
c.194T>C (p.Ile65Thr)
c.407-633T>C (n.407-633T>C)
n.739T>C
 dbSNP gnomAD v2 gnomAD v4
17g.39872411T>GCA399279944ZPBP2c.548T>G (p.Ile183Arg)
c.482T>G (p.Ile161Arg)
c.194T>G (p.Ile65Arg)
c.407-633T>G (n.407-633T>G)
n.739T>G
17g.39872411T=CA2259290898ZPBP2c.548T= (p.Ile183=)
c.482T= (p.Ile161=)
c.194T= (p.Ile65=)
c.407-633T= (n.407-633T=)
n.739T=
17g.39872412A>CCA499931742ZPBP2c.549A>C (p.Ile183=)
c.483A>C (p.Ile161=)
c.195A>C (p.Ile65=)
c.407-632A>C (n.407-632A>C)
n.740A>C
17g.39872412A>GCA399279947ZPBP2c.549A>G (p.Ile183Met)
c.483A>G (p.Ile161Met)
c.195A>G (p.Ile65Met)
c.407-632A>G (n.407-632A>G)
n.740A>G
17g.39872412A>TCA499931743ZPBP2c.549A>T (p.Ile183=)
c.483A>T (p.Ile161=)
c.195A>T (p.Ile65=)
c.407-632A>T (n.407-632A>T)
n.740A>T
17g.39872413G>ACA399279950ZPBP2c.550G>A (p.Glu184Lys)
c.484G>A (p.Glu162Lys)
c.196G>A (p.Glu66Lys)
c.407-631G>A (n.407-631G>A)
n.741G>A
17g.39872413G>CCA399279951ZPBP2c.550G>C (p.Glu184Gln)
c.484G>C (p.Glu162Gln)
c.196G>C (p.Glu66Gln)
c.407-631G>C (n.407-631G>C)
n.741G>C
 gnomAD v4
17g.39872413G>TCA399279952ZPBP2c.550G>T (p.Glu184Ter)
c.484G>T (p.Glu162Ter)
c.196G>T (p.Glu66Ter)
c.407-631G>T (n.407-631G>T)
n.741G>T
17g.39872414A>CCA399279953ZPBP2c.551A>C (p.Glu184Ala)
c.485A>C (p.Glu162Ala)
c.197A>C (p.Glu66Ala)
c.407-630A>C (n.407-630A>C)
n.742A>C
17g.39872414A>GCA399279954ZPBP2c.551A>G (p.Glu184Gly)
c.485A>G (p.Glu162Gly)
c.197A>G (p.Glu66Gly)
c.407-630A>G (n.407-630A>G)
n.742A>G
17g.39872414A>TCA399279956ZPBP2c.551A>T (p.Glu184Val)
c.485A>T (p.Glu162Val)
c.197A>T (p.Glu66Val)
c.407-630A>T (n.407-630A>T)
n.742A>T
17g.39872415G>ACA499931745ZPBP2c.552G>A (p.Glu184=)
c.486G>A (p.Glu162=)
c.198G>A (p.Glu66=)
c.407-629G>A (n.407-629G>A)
n.743G>A
 gnomAD v4
17g.39872415G>CCA399279958ZPBP2c.552G>C (p.Glu184Asp)
c.486G>C (p.Glu162Asp)
c.198G>C (p.Glu66Asp)
c.407-629G>C (n.407-629G>C)
n.743G>C
17g.39872415G=CA2259290899ZPBP2c.552G= (p.Glu184=)
c.486G= (p.Glu162=)
c.198G= (p.Glu66=)
c.407-629G= (n.407-629G=)
n.743G=
17g.39872415G>TCA399279962ZPBP2c.552G>T (p.Glu184Asp)
c.486G>T (p.Glu162Asp)
c.198G>T (p.Glu66Asp)
c.407-629G>T (n.407-629G>T)
n.743G>T
 dbSNP gnomAD v4
17g.39872416C>ACA399279963ZPBP2c.553C>A (p.Pro185Thr)
c.487C>A (p.Pro163Thr)
c.199C>A (p.Pro67Thr)
c.407-628C>A (n.407-628C>A)
n.744C>A
17g.39872416C=CA2259290900ZPBP2c.553C= (p.Pro185=)
c.487C= (p.Pro163=)
c.199C= (p.Pro67=)
c.407-628C= (n.407-628C=)
n.744C=
17g.39872416C>GCA399279964ZPBP2c.553C>G (p.Pro185Ala)
c.487C>G (p.Pro163Ala)
c.199C>G (p.Pro67Ala)
c.407-628C>G (n.407-628C>G)
n.744C>G
17g.39872416C>TCA8535978ZPBP2c.553C>T (p.Pro185Ser)
c.487C>T (p.Pro163Ser)
c.199C>T (p.Pro67Ser)
c.407-628C>T (n.407-628C>T)
n.744C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872417C>ACA399279965ZPBP2c.554C>A (p.Pro185Gln)
c.488C>A (p.Pro163Gln)
c.200C>A (p.Pro67Gln)
c.407-627C>A (n.407-627C>A)
n.745C>A
17g.39872417C=CA2259290901ZPBP2c.554C= (p.Pro185=)
c.488C= (p.Pro163=)
c.200C= (p.Pro67=)
c.407-627C= (n.407-627C=)
n.745C=
17g.39872417C>GCA399279967ZPBP2c.554C>G (p.Pro185Arg)
c.488C>G (p.Pro163Arg)
c.200C>G (p.Pro67Arg)
c.407-627C>G (n.407-627C>G)
n.745C>G
 dbSNP gnomAD v4
17g.39872417C>TCA399279968ZPBP2c.554C>T (p.Pro185Leu)
c.488C>T (p.Pro163Leu)
c.200C>T (p.Pro67Leu)
c.407-627C>T (n.407-627C>T)
n.745C>T
 gnomAD v4
17g.39872418A>CCA499931746ZPBP2c.555A>C (p.Pro185=)
c.489A>C (p.Pro163=)
c.201A>C (p.Pro67=)
c.407-626A>C (n.407-626A>C)
n.746A>C
17g.39872418A>GCA499931747ZPBP2c.555A>G (p.Pro185=)
c.489A>G (p.Pro163=)
c.201A>G (p.Pro67=)
c.407-626A>G (n.407-626A>G)
n.746A>G
17g.39872418A>TCA499931748ZPBP2c.555A>T (p.Pro185=)
c.489A>T (p.Pro163=)
c.201A>T (p.Pro67=)
c.407-626A>T (n.407-626A>T)
n.746A>T
17g.39872419T>ACA399279972ZPBP2c.556T>A (p.Ser186Thr)
c.490T>A (p.Ser164Thr)
c.202T>A (p.Ser68Thr)
c.407-625T>A (n.407-625T>A)
n.747T>A
17g.39872419T>CCA399279974ZPBP2c.556T>C (p.Ser186Pro)
c.490T>C (p.Ser164Pro)
c.202T>C (p.Ser68Pro)
c.407-625T>C (n.407-625T>C)
n.747T>C
17g.39872419T>GCA399279977ZPBP2c.556T>G (p.Ser186Ala)
c.490T>G (p.Ser164Ala)
c.202T>G (p.Ser68Ala)
c.407-625T>G (n.407-625T>G)
n.747T>G
17g.39872420C>ACA399279978ZPBP2c.557C>A (p.Ser186Ter)
c.491C>A (p.Ser164Ter)
c.203C>A (p.Ser68Ter)
c.407-624C>A (n.407-624C>A)
n.748C>A
17g.39872420C>GCA399279979ZPBP2c.557C>G (p.Ser186Ter)
c.491C>G (p.Ser164Ter)
c.203C>G (p.Ser68Ter)
c.407-624C>G (n.407-624C>G)
n.748C>G
17g.39872420C>TCA399279980ZPBP2c.557C>T (p.Ser186Leu)
c.491C>T (p.Ser164Leu)
c.203C>T (p.Ser68Leu)
c.407-624C>T (n.407-624C>T)
n.748C>T
17g.39872421A>CCA499931749ZPBP2c.558A>C (p.Ser186=)
c.492A>C (p.Ser164=)
c.204A>C (p.Ser68=)
c.407-623A>C (n.407-623A>C)
n.749A>C
17g.39872421A>GCA499931750ZPBP2c.558A>G (p.Ser186=)
c.492A>G (p.Ser164=)
c.204A>G (p.Ser68=)
c.407-623A>G (n.407-623A>G)
n.749A>G
 COSMIC
17g.39872421A>TCA499931751ZPBP2c.558A>T (p.Ser186=)
c.492A>T (p.Ser164=)
c.204A>T (p.Ser68=)
c.407-623A>T (n.407-623A>T)
n.749A>T
 gnomAD v4
17g.39872422T>ACA399279985ZPBP2c.559T>A (p.Tyr187Asn)
c.493T>A (p.Tyr165Asn)
c.205T>A (p.Tyr69Asn)
c.407-622T>A (n.407-622T>A)
n.750T>A
17g.39872422T>CCA399279983ZPBP2c.559T>C (p.Tyr187His)
c.493T>C (p.Tyr165His)
c.205T>C (p.Tyr69His)
c.407-622T>C (n.407-622T>C)
n.750T>C
 gnomAD v4
17g.39872422T>GCA399279981ZPBP2c.559T>G (p.Tyr187Asp)
c.493T>G (p.Tyr165Asp)
c.205T>G (p.Tyr69Asp)
c.407-622T>G (n.407-622T>G)
n.750T>G
17g.39872423A>CCA399279990ZPBP2c.560A>C (p.Tyr187Ser)
c.494A>C (p.Tyr165Ser)
c.206A>C (p.Tyr69Ser)
c.407-621A>C (n.407-621A>C)
n.751A>C
 gnomAD v4
17g.39872423A>GCA399279988ZPBP2c.560A>G (p.Tyr187Cys)
c.494A>G (p.Tyr165Cys)
c.206A>G (p.Tyr69Cys)
c.407-621A>G (n.407-621A>G)
n.751A>G
17g.39872423A>TCA399279993ZPBP2c.560A>T (p.Tyr187Phe)
c.494A>T (p.Tyr165Phe)
c.206A>T (p.Tyr69Phe)
c.407-621A>T (n.407-621A>T)
n.751A>T
17g.39872424delCA2576255762ZPBP2c.561del (p.Tyr187Ter)
c.495del (p.Tyr165Ter)
c.207del (p.Tyr69Ter)
c.407-620del (n.407-620del)
n.752del
17g.39872424T>ACA399279997ZPBP2c.561T>A (p.Tyr187Ter)
c.495T>A (p.Tyr165Ter)
c.207T>A (p.Tyr69Ter)
c.407-620T>A (n.407-620T>A)
n.752T>A
17g.39872424T>CCA499931752ZPBP2c.561T>C (p.Tyr187=)
c.495T>C (p.Tyr165=)
c.207T>C (p.Tyr69=)
c.407-620T>C (n.407-620T>C)
n.752T>C
17g.39872424T>GCA399279999ZPBP2c.561T>G (p.Tyr187Ter)
c.495T>G (p.Tyr165Ter)
c.207T>G (p.Tyr69Ter)
c.407-620T>G (n.407-620T>G)
n.752T>G
17g.39872425A>CCA399280000ZPBP2c.562A>C (p.Lys188Gln)
c.496A>C (p.Lys166Gln)
c.208A>C (p.Lys70Gln)
c.407-619A>C (n.407-619A>C)
n.753A>C
17g.39872425A>GCA399280007ZPBP2c.562A>G (p.Lys188Glu)
c.496A>G (p.Lys166Glu)
c.208A>G (p.Lys70Glu)
c.407-619A>G (n.407-619A>G)
n.753A>G
17g.39872425A>TCA399280010ZPBP2c.562A>T (p.Lys188Ter)
c.496A>T (p.Lys166Ter)
c.208A>T (p.Lys70Ter)
c.407-619A>T (n.407-619A>T)
n.753A>T
17g.39872426A>CCA399280012ZPBP2c.563A>C (p.Lys188Thr)
c.497A>C (p.Lys166Thr)
c.209A>C (p.Lys70Thr)
c.407-618A>C (n.407-618A>C)
n.754A>C
17g.39872426A>GCA399280015ZPBP2c.563A>G (p.Lys188Arg)
c.497A>G (p.Lys166Arg)
c.209A>G (p.Lys70Arg)
c.407-618A>G (n.407-618A>G)
n.754A>G
17g.39872426A>TCA399280017ZPBP2c.563A>T (p.Lys188Ile)
c.497A>T (p.Lys166Ile)
c.209A>T (p.Lys70Ile)
c.407-618A>T (n.407-618A>T)
n.754A>T
17g.39872427A>CCA399280019ZPBP2c.564A>C (p.Lys188Asn)
c.498A>C (p.Lys166Asn)
c.210A>C (p.Lys70Asn)
c.407-617A>C (n.407-617A>C)
n.755A>C
17g.39872427A>GCA499931753ZPBP2c.564A>G (p.Lys188=)
c.498A>G (p.Lys166=)
c.210A>G (p.Lys70=)
c.407-617A>G (n.407-617A>G)
n.755A>G
17g.39872427A>TCA399280020ZPBP2c.564A>T (p.Lys188Asn)
c.498A>T (p.Lys166Asn)
c.210A>T (p.Lys70Asn)
c.407-617A>T (n.407-617A>T)
n.755A>T
17g.39872428T>ACA399280023ZPBP2c.565T>A (p.Cys189Ser)
c.499T>A (p.Cys167Ser)
c.211T>A (p.Cys71Ser)
c.407-616T>A (n.407-616T>A)
n.756T>A
17g.39872428T>CCA399280025ZPBP2c.565T>C (p.Cys189Arg)
c.499T>C (p.Cys167Arg)
c.211T>C (p.Cys71Arg)
c.407-616T>C (n.407-616T>C)
n.756T>C
 gnomAD v4
17g.39872428T>GCA399280026ZPBP2c.565T>G (p.Cys189Gly)
c.499T>G (p.Cys167Gly)
c.211T>G (p.Cys71Gly)
c.407-616T>G (n.407-616T>G)
n.756T>G
17g.39872429G>ACA399280027ZPBP2c.566G>A (p.Cys189Tyr)
c.500G>A (p.Cys167Tyr)
c.212G>A (p.Cys71Tyr)
c.407-615G>A (n.407-615G>A)
n.757G>A
 dbSNP gnomAD v4
17g.39872429G>CCA399280029ZPBP2c.566G>C (p.Cys189Ser)
c.500G>C (p.Cys167Ser)
c.212G>C (p.Cys71Ser)
c.407-615G>C (n.407-615G>C)
n.757G>C
17g.39872429G=CA2259290902ZPBP2c.566G= (p.Cys189=)
c.500G= (p.Cys167=)
c.212G= (p.Cys71=)
c.407-615G= (n.407-615G=)
n.757G=
17g.39872429G>TCA399280028ZPBP2c.566G>T (p.Cys189Phe)
c.500G>T (p.Cys167Phe)
c.212G>T (p.Cys71Phe)
c.407-615G>T (n.407-615G>T)
n.757G>T
17g.39872430C>ACA399280030ZPBP2c.567C>A (p.Cys189Ter)
c.501C>A (p.Cys167Ter)
c.213C>A (p.Cys71Ter)
c.407-614C>A (n.407-614C>A)
n.758C>A
17g.39872430C>GCA399280031ZPBP2c.567C>G (p.Cys189Trp)
c.501C>G (p.Cys167Trp)
c.213C>G (p.Cys71Trp)
c.407-614C>G (n.407-614C>G)
n.758C>G
17g.39872430C>TCA499931754ZPBP2c.567C>T (p.Cys189=)
c.501C>T (p.Cys167=)
c.213C>T (p.Cys71=)
c.407-614C>T (n.407-614C>T)
n.758C>T
17g.39872430_39872434delinsCCATTCA2259290903ZPBP2c.567_571delinsCCATT (p.Cys189=)
c.501_505delinsCCATT (p.Cys167=)
c.213_217delinsCCATT (p.Cys71=)
c.407-614_407-610delinsCCATT (n.407-614_407-610delinsCCATT)
n.758_762delinsCCATT
17g.39872431C>ACA399280032ZPBP2c.568C>A (p.His190Asn)
c.502C>A (p.His168Asn)
c.214C>A (p.His72Asn)
c.407-613C>A (n.407-613C>A)
n.759C>A
17g.39872431C>GCA399280033ZPBP2c.568C>G (p.His190Asp)
c.502C>G (p.His168Asp)
c.214C>G (p.His72Asp)
c.407-613C>G (n.407-613C>G)
n.759C>G
17g.39872431C>TCA399280034ZPBP2c.568C>T (p.His190Tyr)
c.502C>T (p.His168Tyr)
c.214C>T (p.His72Tyr)
c.407-613C>T (n.407-613C>T)
n.759C>T
17g.39872432_39872435delCA625946588ZPBP2c.569_572del (p.His190LeufsTer15)
c.503_506del (p.His168LeufsTer15)
c.215_218del (p.His72LeufsTer15)
c.407-612_407-609del (n.407-612_407-609del)
n.760_763del
 dbSNP gnomAD v2 gnomAD v4
17g.39872431_39872442delinsCATTCTGTTGAACA2259290904ZPBP2c.568_579delinsCATTCTGTTGAA (p.His190=)
c.502_513delinsCATTCTGTTGAA (p.His168=)
c.214_225delinsCATTCTGTTGAA (p.His72=)
c.407-613_407-602delinsCATTCTGTTGAA (n.407-613_407-602delinsCATTCTGTTGAA)
n.759_770delinsCATTCTGTTGAA
17g.39872432A=CA2259290905ZPBP2c.569A= (p.His190=)
c.503A= (p.His168=)
c.215A= (p.His72=)
c.407-612A= (n.407-612A=)
n.760A=
17g.39872432A>CCA399280035ZPBP2c.569A>C (p.His190Pro)
c.503A>C (p.His168Pro)
c.215A>C (p.His72Pro)
c.407-612A>C (n.407-612A>C)
n.760A>C
17g.39872432A>GCA399280036ZPBP2c.569A>G (p.His190Arg)
c.503A>G (p.His168Arg)
c.215A>G (p.His72Arg)
c.407-612A>G (n.407-612A>G)
n.760A>G
 dbSNP gnomAD v2 gnomAD v4
17g.39872432A>TCA399280037ZPBP2c.569A>T (p.His190Leu)
c.503A>T (p.His168Leu)
c.215A>T (p.His72Leu)
c.407-612A>T (n.407-612A>T)
n.760A>T
17g.39872436_39872446delCA625946589ZPBP2c.573_583del (p.Val192ArgfsTer7)
c.507_517del (p.Val170ArgfsTer7)
c.219_229del (p.Val74ArgfsTer7)
c.407-608_407-598del (n.407-608_407-598del)
n.764_774del
 dbSNP gnomAD v2 gnomAD v4
17g.39872433T>ACA399280038ZPBP2c.570T>A (p.His190Gln)
c.504T>A (p.His168Gln)
c.216T>A (p.His72Gln)
c.407-611T>A (n.407-611T>A)
n.761T>A
17g.39872433T>CCA499931755ZPBP2c.570T>C (p.His190=)
c.504T>C (p.His168=)
c.216T>C (p.His72=)
c.407-611T>C (n.407-611T>C)
n.761T>C
17g.39872433T>GCA399280039ZPBP2c.570T>G (p.His190Gln)
c.504T>G (p.His168Gln)
c.216T>G (p.His72Gln)
c.407-611T>G (n.407-611T>G)
n.761T>G
17g.39872434T>ACA8535979ZPBP2c.571T>A (p.Ser191Thr)
c.505T>A (p.Ser169Thr)
c.217T>A (p.Ser73Thr)
c.407-610T>A (n.407-610T>A)
n.762T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872434T>CCA399280041ZPBP2c.571T>C (p.Ser191Pro)
c.505T>C (p.Ser169Pro)
c.217T>C (p.Ser73Pro)
c.407-610T>C (n.407-610T>C)
n.762T>C
17g.39872434T>GCA399280040ZPBP2c.571T>G (p.Ser191Ala)
c.505T>G (p.Ser169Ala)
c.217T>G (p.Ser73Ala)
c.407-610T>G (n.407-610T>G)
n.762T>G
17g.39872434T=CA2259290906ZPBP2c.571T= (p.Ser191=)
c.505T= (p.Ser169=)
c.217T= (p.Ser73=)
c.407-610T= (n.407-610T=)
n.762T=
17g.39872435C>ACA399280042ZPBP2c.572C>A (p.Ser191Tyr)
c.506C>A (p.Ser169Tyr)
c.218C>A (p.Ser73Tyr)
c.407-609C>A (n.407-609C>A)
n.763C>A
17g.39872435C>GCA399280043ZPBP2c.572C>G (p.Ser191Cys)
c.506C>G (p.Ser169Cys)
c.218C>G (p.Ser73Cys)
c.407-609C>G (n.407-609C>G)
n.763C>G
17g.39872435C>TCA399280044ZPBP2c.572C>T (p.Ser191Phe)
c.506C>T (p.Ser169Phe)
c.218C>T (p.Ser73Phe)
c.407-609C>T (n.407-609C>T)
n.763C>T
17g.39872436T>ACA499931756ZPBP2c.573T>A (p.Ser191=)
c.507T>A (p.Ser169=)
c.219T>A (p.Ser73=)
c.407-608T>A (n.407-608T>A)
n.764T>A
17g.39872436T>CCA499931757ZPBP2c.573T>C (p.Ser191=)
c.507T>C (p.Ser169=)
c.219T>C (p.Ser73=)
c.407-608T>C (n.407-608T>C)
n.764T>C
17g.39872436T>GCA499931758ZPBP2c.573T>G (p.Ser191=)
c.507T>G (p.Ser169=)
c.219T>G (p.Ser73=)
c.407-608T>G (n.407-608T>G)
n.764T>G
17g.39872437G>ACA399280045ZPBP2c.574G>A (p.Val192Ile)
c.508G>A (p.Val170Ile)
c.220G>A (p.Val74Ile)
c.407-607G>A (n.407-607G>A)
n.765G>A
17g.39872437G>CCA399280046ZPBP2c.574G>C (p.Val192Leu)
c.508G>C (p.Val170Leu)
c.220G>C (p.Val74Leu)
c.407-607G>C (n.407-607G>C)
n.765G>C
17g.39872437G>TCA399280047ZPBP2c.574G>T (p.Val192Phe)
c.508G>T (p.Val170Phe)
c.220G>T (p.Val74Phe)
c.407-607G>T (n.407-607G>T)
n.765G>T
17g.39872438T>ACA399280048ZPBP2c.575T>A (p.Val192Asp)
c.509T>A (p.Val170Asp)
c.221T>A (p.Val74Asp)
c.407-606T>A (n.407-606T>A)
n.766T>A
17g.39872438T>CCA399280049ZPBP2c.575T>C (p.Val192Ala)
c.509T>C (p.Val170Ala)
c.221T>C (p.Val74Ala)
c.407-606T>C (n.407-606T>C)
n.766T>C
 COSMIC
17g.39872438T>GCA399280050ZPBP2c.575T>G (p.Val192Gly)
c.509T>G (p.Val170Gly)
c.221T>G (p.Val74Gly)
c.407-606T>G (n.407-606T>G)
n.766T>G
17g.39872439T>ACA499931759ZPBP2c.576T>A (p.Val192=)
c.510T>A (p.Val170=)
c.222T>A (p.Val74=)
c.407-605T>A (n.407-605T>A)
n.767T>A
17g.39872439T>CCA499931760ZPBP2c.576T>C (p.Val192=)
c.510T>C (p.Val170=)
c.222T>C (p.Val74=)
c.407-605T>C (n.407-605T>C)
n.767T>C
17g.39872439T>GCA499931761ZPBP2c.576T>G (p.Val192=)
c.510T>G (p.Val170=)
c.222T>G (p.Val74=)
c.407-605T>G (n.407-605T>G)
n.767T>G
17g.39872440G>ACA399280051ZPBP2c.577G>A (p.Glu193Lys)
c.511G>A (p.Glu171Lys)
c.223G>A (p.Glu75Lys)
c.407-604G>A (n.407-604G>A)
n.768G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.39872440G>CCA399280052ZPBP2c.577G>C (p.Glu193Gln)
c.511G>C (p.Glu171Gln)
c.223G>C (p.Glu75Gln)
c.407-604G>C (n.407-604G>C)
n.768G>C
17g.39872440G=CA2259290907ZPBP2c.577G= (p.Glu193=)
c.511G= (p.Glu171=)
c.223G= (p.Glu75=)
c.407-604G= (n.407-604G=)
n.768G=
17g.39872440G>TCA399280053ZPBP2c.577G>T (p.Glu193Ter)
c.511G>T (p.Glu171Ter)
c.223G>T (p.Glu75Ter)
c.407-604G>T (n.407-604G>T)
n.768G>T
17g.39872441A=CA2259290908ZPBP2c.578A= (p.Glu193=)
c.512A= (p.Glu171=)
c.224A= (p.Glu75=)
c.407-603A= (n.407-603A=)
n.769A=
17g.39872441A>CCA399280058ZPBP2c.578A>C (p.Glu193Ala)
c.512A>C (p.Glu171Ala)
c.224A>C (p.Glu75Ala)
c.407-603A>C (n.407-603A>C)
n.769A>C
17g.39872441A>GCA399280059ZPBP2c.578A>G (p.Glu193Gly)
c.512A>G (p.Glu171Gly)
c.224A>G (p.Glu75Gly)
c.407-603A>G (n.407-603A>G)
n.769A>G
 dbSNP gnomAD v4
17g.39872441A>TCA399280054ZPBP2c.578A>T (p.Glu193Val)
c.512A>T (p.Glu171Val)
c.224A>T (p.Glu75Val)
c.407-603A>T (n.407-603A>T)
n.769A>T
17g.39872442A>CCA399280061ZPBP2c.579A>C (p.Glu193Asp)
c.513A>C (p.Glu171Asp)
c.225A>C (p.Glu75Asp)
c.407-602A>C (n.407-602A>C)
n.770A>C
17g.39872442A>GCA499931762ZPBP2c.579A>G (p.Glu193=)
c.513A>G (p.Glu171=)
c.225A>G (p.Glu75=)
c.407-602A>G (n.407-602A>G)
n.770A>G
17g.39872442A>TCA399280063ZPBP2c.579A>T (p.Glu193Asp)
c.513A>T (p.Glu171Asp)
c.225A>T (p.Glu75Asp)
c.407-602A>T (n.407-602A>T)
n.770A>T
17g.39872443A>CCA399280070ZPBP2c.580A>C (p.Ile194Leu)
c.514A>C (p.Ile172Leu)
c.226A>C (p.Ile76Leu)
c.407-601A>C (n.407-601A>C)
n.771A>C
17g.39872443A>GCA399280071ZPBP2c.580A>G (p.Ile194Val)
c.514A>G (p.Ile172Val)
c.226A>G (p.Ile76Val)
c.407-601A>G (n.407-601A>G)
n.771A>G
17g.39872443A>TCA399280074ZPBP2c.580A>T (p.Ile194Phe)
c.514A>T (p.Ile172Phe)
c.226A>T (p.Ile76Phe)
c.407-601A>T (n.407-601A>T)
n.771A>T
17g.39872444T>ACA399280079ZPBP2c.581T>A (p.Ile194Asn)
c.515T>A (p.Ile172Asn)
c.227T>A (p.Ile76Asn)
c.407-600T>A (n.407-600T>A)
n.772T>A
17g.39872444T>CCA399280078ZPBP2c.581T>C (p.Ile194Thr)
c.515T>C (p.Ile172Thr)
c.227T>C (p.Ile76Thr)
c.407-600T>C (n.407-600T>C)
n.772T>C
17g.39872444T>GCA399280076ZPBP2c.581T>G (p.Ile194Ser)
c.515T>G (p.Ile172Ser)
c.227T>G (p.Ile76Ser)
c.407-600T>G (n.407-600T>G)
n.772T>G
17g.39872445T>ACA499931763ZPBP2c.582T>A (p.Ile194=)
c.516T>A (p.Ile172=)
c.228T>A (p.Ile76=)
c.407-599T>A (n.407-599T>A)
n.773T>A
17g.39872445T>CCA499931764ZPBP2c.582T>C (p.Ile194=)
c.516T>C (p.Ile172=)
c.228T>C (p.Ile76=)
c.407-599T>C (n.407-599T>C)
n.773T>C
17g.39872445T>GCA399280082ZPBP2c.582T>G (p.Ile194Met)
c.516T>G (p.Ile172Met)
c.228T>G (p.Ile76Met)
c.407-599T>G (n.407-599T>G)
n.773T>G
17g.39872446C>ACA399280084ZPBP2c.583C>A (p.Pro195Thr)
c.517C>A (p.Pro173Thr)
c.229C>A (p.Pro77Thr)
c.407-598C>A (n.407-598C>A)
n.774C>A
17g.39872446C>GCA399280087ZPBP2c.583C>G (p.Pro195Ala)
c.517C>G (p.Pro173Ala)
c.229C>G (p.Pro77Ala)
c.407-598C>G (n.407-598C>G)
n.774C>G
17g.39872446C>TCA399280092ZPBP2c.583C>T (p.Pro195Ser)
c.517C>T (p.Pro173Ser)
c.229C>T (p.Pro77Ser)
c.407-598C>T (n.407-598C>T)
n.774C>T
17g.39872447C>ACA399280102ZPBP2c.584C>A (p.Pro195Gln)
c.518C>A (p.Pro173Gln)
c.230C>A (p.Pro77Gln)
c.407-597C>A (n.407-597C>A)
n.775C>A
17g.39872447C>GCA399280105ZPBP2c.584C>G (p.Pro195Arg)
c.518C>G (p.Pro173Arg)
c.230C>G (p.Pro77Arg)
c.407-597C>G (n.407-597C>G)
n.775C>G
 gnomAD v4
17g.39872447C>TCA399280106ZPBP2c.584C>T (p.Pro195Leu)
c.518C>T (p.Pro173Leu)
c.230C>T (p.Pro77Leu)
c.407-597C>T (n.407-597C>T)
n.775C>T
17g.39872448A=CA2259290909ZPBP2c.585A= (p.Pro195=)
c.519A= (p.Pro173=)
c.231A= (p.Pro77=)
c.407-596A= (n.407-596A=)
n.776A=
17g.39872448A>CCA499931765ZPBP2c.585A>C (p.Pro195=)
c.519A>C (p.Pro173=)
c.231A>C (p.Pro77=)
c.407-596A>C (n.407-596A>C)
n.776A>C
17g.39872448A>GCA499931766ZPBP2c.585A>G (p.Pro195=)
c.519A>G (p.Pro173=)
c.231A>G (p.Pro77=)
c.407-596A>G (n.407-596A>G)
n.776A>G
 dbSNP
17g.39872448A>TCA499931767ZPBP2c.585A>T (p.Pro195=)
c.519A>T (p.Pro173=)
c.231A>T (p.Pro77=)
c.407-596A>T (n.407-596A>T)
n.776A>T
17g.39872449G>ACA399280108ZPBP2c.586G>A (p.Glu196Lys)
c.520G>A (p.Glu174Lys)
c.232G>A (p.Glu78Lys)
c.407-595G>A (n.407-595G>A)
n.777G>A
 dbSNP gnomAD v3 gnomAD v4
17g.39872449G>CCA399280109ZPBP2c.586G>C (p.Glu196Gln)
c.520G>C (p.Glu174Gln)
c.232G>C (p.Glu78Gln)
c.407-595G>C (n.407-595G>C)
n.777G>C
17g.39872449G=CA2259290910ZPBP2c.586G= (p.Glu196=)
c.520G= (p.Glu174=)
c.232G= (p.Glu78=)
c.407-595G= (n.407-595G=)
n.777G=
17g.39872449G>TCA399280107ZPBP2c.586G>T (p.Glu196Ter)
c.520G>T (p.Glu174Ter)
c.232G>T (p.Glu78Ter)
c.407-595G>T (n.407-595G>T)
n.777G>T
 gnomAD v4
17g.39872450A=CA2259290911ZPBP2c.587A= (p.Glu196=)
c.521A= (p.Glu174=)
c.233A= (p.Glu78=)
c.407-594A= (n.407-594A=)
n.778A=
17g.39872450A>CCA399280112ZPBP2c.587A>C (p.Glu196Ala)
c.521A>C (p.Glu174Ala)
c.233A>C (p.Glu78Ala)
c.407-594A>C (n.407-594A>C)
n.778A>C
17g.39872450A>GCA399280118ZPBP2c.587A>G (p.Glu196Gly)
c.521A>G (p.Glu174Gly)
c.233A>G (p.Glu78Gly)
c.407-594A>G (n.407-594A>G)
n.778A>G
17g.39872450A>TCA290455923ZPBP2c.587A>T (p.Glu196Val)
c.521A>T (p.Glu174Val)
c.233A>T (p.Glu78Val)
c.407-594A>T (n.407-594A>T)
n.778A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39872451A>CCA399280124ZPBP2c.588A>C (p.Glu196Asp)
c.522A>C (p.Glu174Asp)
c.234A>C (p.Glu78Asp)
c.407-593A>C (n.407-593A>C)
n.779A>C
17g.39872451A>GCA499931768ZPBP2c.588A>G (p.Glu196=)
c.522A>G (p.Glu174=)
c.234A>G (p.Glu78=)
c.407-593A>G (n.407-593A>G)
n.779A>G
17g.39872451A>TCA399280126ZPBP2c.588A>T (p.Glu196Asp)
c.522A>T (p.Glu174Asp)
c.234A>T (p.Glu78Asp)
c.407-593A>T (n.407-593A>T)
n.779A>T
17g.39872452C>ACA399280142ZPBP2c.589C>A (p.His197Asn)
c.523C>A (p.His175Asn)
c.235C>A (p.His79Asn)
c.407-592C>A (n.407-592C>A)
n.780C>A
17g.39872452C=CA2259290912ZPBP2c.589C= (p.His197=)
c.523C= (p.His175=)
c.235C= (p.His79=)
c.407-592C= (n.407-592C=)
n.780C=
17g.39872452C>GCA399280143ZPBP2c.589C>G (p.His197Asp)
c.523C>G (p.His175Asp)
c.235C>G (p.His79Asp)
c.407-592C>G (n.407-592C>G)
n.780C>G
17g.39872452C>TCA8535980ZPBP2c.589C>T (p.His197Tyr)
c.523C>T (p.His175Tyr)
c.235C>T (p.His79Tyr)
c.407-592C>T (n.407-592C>T)
n.780C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872453A=CA2259290913ZPBP2c.590A= (p.His197=)
c.524A= (p.His175=)
c.236A= (p.His79=)
c.407-591A= (n.407-591A=)
n.781A=
17g.39872453A>CCA399280153ZPBP2c.590A>C (p.His197Pro)
c.524A>C (p.His175Pro)
c.236A>C (p.His79Pro)
c.407-591A>C (n.407-591A>C)
n.781A>C
17g.39872453A>GCA8535981ZPBP2c.590A>G (p.His197Arg)
c.524A>G (p.His175Arg)
c.236A>G (p.His79Arg)
c.407-591A>G (n.407-591A>G)
n.781A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872453A>TCA399280158ZPBP2c.590A>T (p.His197Leu)
c.524A>T (p.His175Leu)
c.236A>T (p.His79Leu)
c.407-591A>T (n.407-591A>T)
n.781A>T
17g.39872454T>ACA399280162ZPBP2c.591T>A (p.His197Gln)
c.525T>A (p.His175Gln)
c.237T>A (p.His79Gln)
c.407-590T>A (n.407-590T>A)
n.782T>A
17g.39872454T>CCA499931769ZPBP2c.591T>C (p.His197=)
c.525T>C (p.His175=)
c.237T>C (p.His79=)
c.407-590T>C (n.407-590T>C)
n.782T>C
17g.39872454T>GCA399280170ZPBP2c.591T>G (p.His197Gln)
c.525T>G (p.His175Gln)
c.237T>G (p.His79Gln)
c.407-590T>G (n.407-590T>G)
n.782T>G
17g.39872455G>ACA399280173ZPBP2c.592G>A (p.Gly198Ser)
c.526G>A (p.Gly176Ser)
c.238G>A (p.Gly80Ser)
c.407-589G>A (n.407-589G>A)
n.783G>A
17g.39872455G>CCA399280177ZPBP2c.592G>C (p.Gly198Arg)
c.526G>C (p.Gly176Arg)
c.238G>C (p.Gly80Arg)
c.407-589G>C (n.407-589G>C)
n.783G>C
17g.39872455G>TCA399280179ZPBP2c.592G>T (p.Gly198Cys)
c.526G>T (p.Gly176Cys)
c.238G>T (p.Gly80Cys)
c.407-589G>T (n.407-589G>T)
n.783G>T
17g.39872456G>ACA399280199ZPBP2c.593G>A (p.Gly198Asp)
c.527G>A (p.Gly176Asp)
c.239G>A (p.Gly80Asp)
c.407-588G>A (n.407-588G>A)
n.784G>A
17g.39872456G>CCA399280196ZPBP2c.593G>C (p.Gly198Ala)
c.527G>C (p.Gly176Ala)
c.239G>C (p.Gly80Ala)
c.407-588G>C (n.407-588G>C)
n.784G>C
17g.39872456G>TCA399280189ZPBP2c.593G>T (p.Gly198Val)
c.527G>T (p.Gly176Val)
c.239G>T (p.Gly80Val)
c.407-588G>T (n.407-588G>T)
n.784G>T
 gnomAD v4
17g.39872457C>ACA499931772ZPBP2c.594C>A (p.Gly198=)
c.528C>A (p.Gly176=)
c.240C>A (p.Gly80=)
c.407-587C>A (n.407-587C>A)
n.785C>A
17g.39872457C=CA2259290914ZPBP2c.594C= (p.Gly198=)
c.528C= (p.Gly176=)
c.240C= (p.Gly80=)
c.407-587C= (n.407-587C=)
n.785C=
17g.39872457C>GCA499931771ZPBP2c.594C>G (p.Gly198=)
c.528C>G (p.Gly176=)
c.240C>G (p.Gly80=)
c.407-587C>G (n.407-587C>G)
n.785C>G
17g.39872457C>TCA499931770ZPBP2c.594C>T (p.Gly198=)
c.528C>T (p.Gly176=)
c.240C>T (p.Gly80=)
c.407-587C>T (n.407-587C>T)
n.785C>T
 dbSNP gnomAD v2 gnomAD v4
17g.39872458C>ACA399280202ZPBP2c.595C>A (p.Leu199Ile)
c.529C>A (p.Leu177Ile)
c.241C>A (p.Leu81Ile)
c.407-586C>A (n.407-586C>A)
n.786C>A
17g.39872458C>GCA399280205ZPBP2c.595C>G (p.Leu199Val)
c.529C>G (p.Leu177Val)
c.241C>G (p.Leu81Val)
c.407-586C>G (n.407-586C>G)
n.786C>G
17g.39872458C>TCA399280209ZPBP2c.595C>T (p.Leu199Phe)
c.529C>T (p.Leu177Phe)
c.241C>T (p.Leu81Phe)
c.407-586C>T (n.407-586C>T)
n.786C>T
17g.39872459T>ACA399280211ZPBP2c.596T>A (p.Leu199His)
c.530T>A (p.Leu177His)
c.242T>A (p.Leu81His)
c.407-585T>A (n.407-585T>A)
n.787T>A
17g.39872459T>CCA399280213ZPBP2c.596T>C (p.Leu199Pro)
c.530T>C (p.Leu177Pro)
c.242T>C (p.Leu81Pro)
c.407-585T>C (n.407-585T>C)
n.787T>C
 dbSNP gnomAD v2 gnomAD v4
17g.39872459T>GCA399280218ZPBP2c.596T>G (p.Leu199Arg)
c.530T>G (p.Leu177Arg)
c.242T>G (p.Leu81Arg)
c.407-585T>G (n.407-585T>G)
n.787T>G
17g.39872459T=CA2259290915ZPBP2c.596T= (p.Leu199=)
c.530T= (p.Leu177=)
c.242T= (p.Leu81=)
c.407-585T= (n.407-585T=)
n.787T=
17g.39872460C>ACA499931773ZPBP2c.597C>A (p.Leu199=)
c.531C>A (p.Leu177=)
c.243C>A (p.Leu81=)
c.407-584C>A (n.407-584C>A)
n.788C>A
17g.39872460C=CA2259290916ZPBP2c.597C= (p.Leu199=)
c.531C= (p.Leu177=)
c.243C= (p.Leu81=)
c.407-584C= (n.407-584C=)
n.788C=
17g.39872460C>GCA499931774ZPBP2c.597C>G (p.Leu199=)
c.531C>G (p.Leu177=)
c.243C>G (p.Leu81=)
c.407-584C>G (n.407-584C>G)
n.788C>G
17g.39872460C>TCA499931775ZPBP2c.597C>T (p.Leu199=)
c.531C>T (p.Leu177=)
c.243C>T (p.Leu81=)
c.407-584C>T (n.407-584C>T)
n.788C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39872461A>CCA399280221ZPBP2c.598A>C (p.Ile200Leu)
c.532A>C (p.Ile178Leu)
c.244A>C (p.Ile82Leu)
c.407-583A>C (n.407-583A>C)
n.789A>C
17g.39872461A>GCA399280222ZPBP2c.598A>G (p.Ile200Val)
c.532A>G (p.Ile178Val)
c.244A>G (p.Ile82Val)
c.407-583A>G (n.407-583A>G)
n.789A>G
 gnomAD v4
17g.39872461A>TCA399280225ZPBP2c.598A>T (p.Ile200Leu)
c.532A>T (p.Ile178Leu)
c.244A>T (p.Ile82Leu)
c.407-583A>T (n.407-583A>T)
n.789A>T
17g.39872462T>ACA8535982ZPBP2c.599T>A (p.Ile200Lys)
c.533T>A (p.Ile178Lys)
c.245T>A (p.Ile82Lys)
c.407-582T>A (n.407-582T>A)
n.790T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872462T>CCA399280231ZPBP2c.599T>C (p.Ile200Thr)
c.533T>C (p.Ile178Thr)
c.245T>C (p.Ile82Thr)
c.407-582T>C (n.407-582T>C)
n.790T>C
 gnomAD v4
17g.39872462T>GCA399280232ZPBP2c.599T>G (p.Ile200Arg)
c.533T>G (p.Ile178Arg)
c.245T>G (p.Ile82Arg)
c.407-582T>G (n.407-582T>G)
n.790T>G
17g.39872462T=CA2259290917ZPBP2c.599T= (p.Ile200=)
c.533T= (p.Ile178=)
c.245T= (p.Ile82=)
c.407-582T= (n.407-582T=)
n.790T=
17g.39872463A=CA2259290918ZPBP2c.600A= (p.Ile200=)
c.534A= (p.Ile178=)
c.246A= (p.Ile82=)
c.407-581A= (n.407-581A=)
n.791A=
17g.39872463A>CCA499931776ZPBP2c.600A>C (p.Ile200=)
c.534A>C (p.Ile178=)
c.246A>C (p.Ile82=)
c.407-581A>C (n.407-581A>C)
n.791A>C
17g.39872463A>GCA399280233ZPBP2c.600A>G (p.Ile200Met)
c.534A>G (p.Ile178Met)
c.246A>G (p.Ile82Met)
c.407-581A>G (n.407-581A>G)
n.791A>G
 dbSNP
17g.39872463A>TCA499931778ZPBP2c.600A>T (p.Ile200=)
c.534A>T (p.Ile178=)
c.246A>T (p.Ile82=)
c.407-581A>T (n.407-581A>T)
n.791A>T
17g.39872464C>ACA399280236ZPBP2c.601C>A (p.His201Asn)
c.535C>A (p.His179Asn)
c.247C>A (p.His83Asn)
c.407-580C>A (n.407-580C>A)
n.792C>A
17g.39872464C=CA2259290919ZPBP2c.601C= (p.His201=)
c.535C= (p.His179=)
c.247C= (p.His83=)
c.407-580C= (n.407-580C=)
n.792C=
17g.39872464C>GCA8535983ZPBP2c.601C>G (p.His201Asp)
c.535C>G (p.His179Asp)
c.247C>G (p.His83Asp)
c.407-580C>G (n.407-580C>G)
n.792C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872464C>TCA399280234ZPBP2c.601C>T (p.His201Tyr)
c.535C>T (p.His179Tyr)
c.247C>T (p.His83Tyr)
c.407-580C>T (n.407-580C>T)
n.792C>T
 dbSNP gnomAD v2 gnomAD v4
17g.39872464_39872465insTATTTCA2637649652ZPBP2c.601_602insTATTT (p.His201LeufsTer7)
c.535_536insTATTT (p.His179LeufsTer7)
c.247_248insTATTT (p.His83LeufsTer7)
c.407-580_407-579insTATTT (n.407-580_407-579insTATTT)
n.792_793insTATTT
 gnomAD v4
17g.39872465A>CCA399280238ZPBP2c.602A>C (p.His201Pro)
c.536A>C (p.His179Pro)
c.248A>C (p.His83Pro)
c.407-579A>C (n.407-579A>C)
n.793A>C
17g.39872465A>GCA399280243ZPBP2c.602A>G (p.His201Arg)
c.536A>G (p.His179Arg)
c.248A>G (p.His83Arg)
c.407-579A>G (n.407-579A>G)
n.793A>G
17g.39872465A>TCA399280245ZPBP2c.602A>T (p.His201Leu)
c.536A>T (p.His179Leu)
c.248A>T (p.His83Leu)
c.407-579A>T (n.407-579A>T)
n.793A>T
17g.39872466T>ACA399280248ZPBP2c.603T>A (p.His201Gln)
c.537T>A (p.His179Gln)
c.249T>A (p.His83Gln)
c.407-578T>A (n.407-578T>A)
n.794T>A
17g.39872466T>CCA499931779ZPBP2c.603T>C (p.His201=)
c.537T>C (p.His179=)
c.249T>C (p.His83=)
c.407-578T>C (n.407-578T>C)
n.794T>C
 dbSNP gnomAD v3 gnomAD v4
17g.39872466T>GCA399280251ZPBP2c.603T>G (p.His201Gln)
c.537T>G (p.His179Gln)
c.249T>G (p.His83Gln)
c.407-578T>G (n.407-578T>G)
n.794T>G
17g.39872466T=CA2259290920ZPBP2c.603T= (p.His201=)
c.537T= (p.His179=)
c.249T= (p.His83=)
c.407-578T= (n.407-578T=)
n.794T=
17g.39872466dupCA2576255763ZPBP2c.603dup (p.Glu202Ter)
c.537dup (p.Glu180Ter)
c.249dup (p.Glu84Ter)
c.407-578dup (n.407-578dup)
n.794dup
17g.39872467delCA2637649653ZPBP2c.604del (p.Glu202SerfsTer4)
c.538del (p.Glu180SerfsTer4)
c.250del (p.Glu84SerfsTer4)
c.407-577del (n.407-577del)
n.795del
 gnomAD v4
17g.39872467G>ACA399280267ZPBP2c.604G>A (p.Glu202Lys)
c.538G>A (p.Glu180Lys)
c.250G>A (p.Glu84Lys)
c.407-577G>A (n.407-577G>A)
n.795G>A
17g.39872467G>CCA399280269ZPBP2c.604G>C (p.Glu202Gln)
c.538G>C (p.Glu180Gln)
c.250G>C (p.Glu84Gln)
c.407-577G>C (n.407-577G>C)
n.795G>C
17g.39872467G>TCA399280270ZPBP2c.604G>T (p.Glu202Ter)
c.538G>T (p.Glu180Ter)
c.250G>T (p.Glu84Ter)
c.407-577G>T (n.407-577G>T)
n.795G>T
17g.39872468A>CCA399280275ZPBP2c.605A>C (p.Glu202Ala)
c.539A>C (p.Glu180Ala)
c.251A>C (p.Glu84Ala)
c.407-576A>C (n.407-576A>C)
n.796A>C
17g.39872468A>GCA399280276ZPBP2c.605A>G (p.Glu202Gly)
c.539A>G (p.Glu180Gly)
c.251A>G (p.Glu84Gly)
c.407-576A>G (n.407-576A>G)
n.796A>G
17g.39872468A>TCA399280277ZPBP2c.605A>T (p.Glu202Val)
c.539A>T (p.Glu180Val)
c.251A>T (p.Glu84Val)
c.407-576A>T (n.407-576A>T)
n.796A>T
17g.39872469G>ACA8535984ZPBP2c.606G>A (p.Glu202=)
c.540G>A (p.Glu180=)
c.252G>A (p.Glu84=)
c.407-575G>A (n.407-575G>A)
n.797G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872469G>CCA399280279ZPBP2c.606G>C (p.Glu202Asp)
c.540G>C (p.Glu180Asp)
c.252G>C (p.Glu84Asp)
c.407-575G>C (n.407-575G>C)
n.797G>C
17g.39872469G=CA2259290921ZPBP2c.606G= (p.Glu202=)
c.540G= (p.Glu180=)
c.252G= (p.Glu84=)
c.407-575G= (n.407-575G=)
n.797G=
17g.39872469G>TCA399280278ZPBP2c.606G>T (p.Glu202Asp)
c.540G>T (p.Glu180Asp)
c.252G>T (p.Glu84Asp)
c.407-575G>T (n.407-575G>T)
n.797G>T
17g.39872470C>ACA290455972ZPBP2c.607C>A (p.Leu203Ile)
c.541C>A (p.Leu181Ile)
c.253C>A (p.Leu85Ile)
c.407-574C>A (n.407-574C>A)
n.798C>A
 dbSNP
17g.39872470C=CA2259290922ZPBP2c.607C= (p.Leu203=)
c.541C= (p.Leu181=)
c.253C= (p.Leu85=)
c.407-574C= (n.407-574C=)
n.798C=
17g.39872470C>GCA399280281ZPBP2c.607C>G (p.Leu203Val)
c.541C>G (p.Leu181Val)
c.253C>G (p.Leu85Val)
c.407-574C>G (n.407-574C>G)
n.798C>G
17g.39872470C>TCA499931780ZPBP2c.607C>T (p.Leu203=)
c.541C>T (p.Leu181=)
c.253C>T (p.Leu85=)
c.407-574C>T (n.407-574C>T)
n.798C>T
17g.39872471delCA2637649654ZPBP2c.608del (p.Leu203HisfsTer3)
c.542del (p.Leu181HisfsTer3)
c.254del (p.Leu85HisfsTer3)
c.407-573del (n.407-573del)
n.799del
 gnomAD v4
17g.39872471T>ACA399280285ZPBP2c.608T>A (p.Leu203Gln)
c.542T>A (p.Leu181Gln)
c.254T>A (p.Leu85Gln)
c.407-573T>A (n.407-573T>A)
n.799T>A
17g.39872471T>CCA399280287ZPBP2c.608T>C (p.Leu203Pro)
c.542T>C (p.Leu181Pro)
c.254T>C (p.Leu85Pro)
c.407-573T>C (n.407-573T>C)
n.799T>C
17g.39872471T>GCA399280289ZPBP2c.608T>G (p.Leu203Arg)
c.542T>G (p.Leu181Arg)
c.254T>G (p.Leu85Arg)
c.407-573T>G (n.407-573T>G)
n.799T>G
17g.39872472A=CA2259290923ZPBP2c.609A= (p.Leu203=)
c.543A= (p.Leu181=)
c.255A= (p.Leu85=)
c.407-572A= (n.407-572A=)
n.800A=
17g.39872472A>CCA499931781ZPBP2c.609A>C (p.Leu203=)
c.543A>C (p.Leu181=)
c.255A>C (p.Leu85=)
c.407-572A>C (n.407-572A>C)
n.800A>C
 dbSNP gnomAD v4
17g.39872472A>GCA499931782ZPBP2c.609A>G (p.Leu203=)
c.543A>G (p.Leu181=)
c.255A>G (p.Leu85=)
c.407-572A>G (n.407-572A>G)
n.800A>G
 gnomAD v4
17g.39872472A>TCA499931783ZPBP2c.609A>T (p.Leu203=)
c.543A>T (p.Leu181=)
c.255A>T (p.Leu85=)
c.407-572A>T (n.407-572A>T)
n.800A>T
17g.39872473T>ACA399280292ZPBP2c.610T>A (p.Phe204Ile)
c.544T>A (p.Phe182Ile)
c.256T>A (p.Phe86Ile)
c.407-571T>A (n.407-571T>A)
n.801T>A
17g.39872473T>CCA399280295ZPBP2c.610T>C (p.Phe204Leu)
c.544T>C (p.Phe182Leu)
c.256T>C (p.Phe86Leu)
c.407-571T>C (n.407-571T>C)
n.801T>C
17g.39872473T>GCA399280296ZPBP2c.610T>G (p.Phe204Val)
c.544T>G (p.Phe182Val)
c.256T>G (p.Phe86Val)
c.407-571T>G (n.407-571T>G)
n.801T>G
17g.39872474T>ACA399280297ZPBP2c.611T>A (p.Phe204Tyr)
c.545T>A (p.Phe182Tyr)
c.257T>A (p.Phe86Tyr)
c.407-570T>A (n.407-570T>A)
n.802T>A
17g.39872474T>CCA399280299ZPBP2c.611T>C (p.Phe204Ser)
c.545T>C (p.Phe182Ser)
c.257T>C (p.Phe86Ser)
c.407-570T>C (n.407-570T>C)
n.802T>C
17g.39872474T>GCA399280300ZPBP2c.611T>G (p.Phe204Cys)
c.545T>G (p.Phe182Cys)
c.257T>G (p.Phe86Cys)
c.407-570T>G (n.407-570T>G)
n.802T>G
17g.39872475T>ACA399280303ZPBP2c.612T>A (p.Phe204Leu)
c.546T>A (p.Phe182Leu)
c.258T>A (p.Phe86Leu)
c.407-569T>A (n.407-569T>A)
n.803T>A
17g.39872475T>CCA499931784ZPBP2c.612T>C (p.Phe204=)
c.546T>C (p.Phe182=)
c.258T>C (p.Phe86=)
c.407-569T>C (n.407-569T>C)
n.803T>C
17g.39872475T>GCA399280301ZPBP2c.612T>G (p.Phe204Leu)
c.546T>G (p.Phe182Leu)
c.258T>G (p.Phe86Leu)
c.407-569T>G (n.407-569T>G)
n.803T>G
17g.39872476A=CA2259290924ZPBP2c.613A= (p.Ile205=)
c.547A= (p.Ile183=)
c.259A= (p.Ile87=)
c.407-568A= (n.407-568A=)
n.804A=
17g.39872476A>CCA399280312ZPBP2c.613A>C (p.Ile205Leu)
c.547A>C (p.Ile183Leu)
c.259A>C (p.Ile87Leu)
c.407-568A>C (n.407-568A>C)
n.804A>C
17g.39872476A>GCA399280315ZPBP2c.613A>G (p.Ile205Val)
c.547A>G (p.Ile183Val)
c.259A>G (p.Ile87Val)
c.407-568A>G (n.407-568A>G)
n.804A>G
 dbSNP gnomAD v4
17g.39872476A>TCA399280316ZPBP2c.613A>T (p.Ile205Leu)
c.547A>T (p.Ile183Leu)
c.259A>T (p.Ile87Leu)
c.407-568A>T (n.407-568A>T)
n.804A>T
17g.39872477T>ACA399280320ZPBP2c.614T>A (p.Ile205Lys)
c.548T>A (p.Ile183Lys)
c.260T>A (p.Ile87Lys)
c.407-567T>A (n.407-567T>A)
n.805T>A
17g.39872477T>CCA399280322ZPBP2c.614T>C (p.Ile205Thr)
c.548T>C (p.Ile183Thr)
c.260T>C (p.Ile87Thr)
c.407-567T>C (n.407-567T>C)
n.805T>C
17g.39872477T>GCA399280325ZPBP2c.614T>G (p.Ile205Arg)
c.548T>G (p.Ile183Arg)
c.260T>G (p.Ile87Arg)
c.407-567T>G (n.407-567T>G)
n.805T>G
17g.39872478A=CA2259290925ZPBP2c.615A= (p.Ile205=)
c.549A= (p.Ile183=)
c.261A= (p.Ile87=)
c.407-566A= (n.407-566A=)
n.806A=
17g.39872478A>CCA499931785ZPBP2c.615A>C (p.Ile205=)
c.549A>C (p.Ile183=)
c.261A>C (p.Ile87=)
c.407-566A>C (n.407-566A>C)
n.806A>C
17g.39872478A>GCA8535985ZPBP2c.615A>G (p.Ile205Met)
c.549A>G (p.Ile183Met)
c.261A>G (p.Ile87Met)
c.407-566A>G (n.407-566A>G)
n.806A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872478A>TCA499931786ZPBP2c.615A>T (p.Ile205=)
c.549A>T (p.Ile183=)
c.261A>T (p.Ile87=)
c.407-566A>T (n.407-566A>T)
n.806A>T
 gnomAD v4
17g.39872479G>ACA399280329ZPBP2c.616G>A (p.Ala206Thr)
c.550G>A (p.Ala184Thr)
c.262G>A (p.Ala88Thr)
c.407-565G>A (n.407-565G>A)
n.807G>A
17g.39872479G>CCA399280332ZPBP2c.616G>C (p.Ala206Pro)
c.550G>C (p.Ala184Pro)
c.262G>C (p.Ala88Pro)
c.407-565G>C (n.407-565G>C)
n.807G>C
17g.39872479G=CA2259290926ZPBP2c.616G= (p.Ala206=)
c.550G= (p.Ala184=)
c.262G= (p.Ala88=)
c.407-565G= (n.407-565G=)
n.807G=
17g.39872479G>TCA399280333ZPBP2c.616G>T (p.Ala206Ser)
c.550G>T (p.Ala184Ser)
c.262G>T (p.Ala88Ser)
c.407-565G>T (n.407-565G>T)
n.807G>T
 dbSNP gnomAD v2 gnomAD v4
17g.39872480C>ACA399280335ZPBP2c.617C>A (p.Ala206Glu)
c.551C>A (p.Ala184Glu)
c.263C>A (p.Ala88Glu)
c.407-564C>A (n.407-564C>A)
n.808C>A
 dbSNP gnomAD v2 gnomAD v4
17g.39872480C=CA2259290927ZPBP2c.617C= (p.Ala206=)
c.551C= (p.Ala184=)
c.263C= (p.Ala88=)
c.407-564C= (n.407-564C=)
n.808C=
17g.39872480C>GCA399280336ZPBP2c.617C>G (p.Ala206Gly)
c.551C>G (p.Ala184Gly)
c.263C>G (p.Ala88Gly)
c.407-564C>G (n.407-564C>G)
n.808C>G
 gnomAD v4
17g.39872480C>TCA399280337ZPBP2c.617C>T (p.Ala206Val)
c.551C>T (p.Ala184Val)
c.263C>T (p.Ala88Val)
c.407-564C>T (n.407-564C>T)
n.808C>T
 gnomAD v4
17g.39872481A>CCA499931787ZPBP2c.618A>C (p.Ala206=)
c.552A>C (p.Ala184=)
c.264A>C (p.Ala88=)
c.407-563A>C (n.407-563A>C)
n.809A>C
17g.39872481A>GCA499931788ZPBP2c.618A>G (p.Ala206=)
c.552A>G (p.Ala184=)
c.264A>G (p.Ala88=)
c.407-563A>G (n.407-563A>G)
n.809A>G
17g.39872481A>TCA499931789ZPBP2c.618A>T (p.Ala206=)
c.552A>T (p.Ala184=)
c.264A>T (p.Ala88=)
c.407-563A>T (n.407-563A>T)
n.809A>T
17g.39872482T>ACA399280341ZPBP2c.619T>A (p.Phe207Ile)
c.553T>A (p.Phe185Ile)
c.265T>A (p.Phe89Ile)
c.407-562T>A (n.407-562T>A)
n.810T>A
17g.39872482T>CCA399280340ZPBP2c.619T>C (p.Phe207Leu)
c.553T>C (p.Phe185Leu)
c.265T>C (p.Phe89Leu)
c.407-562T>C (n.407-562T>C)
n.810T>C
 gnomAD v4
17g.39872482T>GCA399280338ZPBP2c.619T>G (p.Phe207Val)
c.553T>G (p.Phe185Val)
c.265T>G (p.Phe89Val)
c.407-562T>G (n.407-562T>G)
n.810T>G
17g.39872483T>ACA399280342ZPBP2c.620T>A (p.Phe207Tyr)
c.554T>A (p.Phe185Tyr)
c.266T>A (p.Phe89Tyr)
c.407-561T>A (n.407-561T>A)
n.811T>A
17g.39872483T>CCA399280345ZPBP2c.620T>C (p.Phe207Ser)
c.554T>C (p.Phe185Ser)
c.266T>C (p.Phe89Ser)
c.407-561T>C (n.407-561T>C)
n.811T>C
17g.39872483T>GCA290455973ZPBP2c.620T>G (p.Phe207Cys)
c.554T>G (p.Phe185Cys)
c.266T>G (p.Phe89Cys)
c.407-561T>G (n.407-561T>G)
n.811T>G
 dbSNP gnomAD v3 gnomAD v4
17g.39872483T=CA2259290928ZPBP2c.620T= (p.Phe207=)
c.554T= (p.Phe185=)
c.266T= (p.Phe89=)
c.407-561T= (n.407-561T=)
n.811T=
17g.39872484T>ACA399280349ZPBP2c.621T>A (p.Phe207Leu)
c.555T>A (p.Phe185Leu)
c.267T>A (p.Phe89Leu)
c.407-560T>A (n.407-560T>A)
n.812T>A
17g.39872484T>CCA499931790ZPBP2c.621T>C (p.Phe207=)
c.555T>C (p.Phe185=)
c.267T>C (p.Phe89=)
c.407-560T>C (n.407-560T>C)
n.812T>C
17g.39872484T>GCA399280351ZPBP2c.621T>G (p.Phe207Leu)
c.555T>G (p.Phe185Leu)
c.267T>G (p.Phe89Leu)
c.407-560T>G (n.407-560T>G)
n.812T>G
17g.39872485C>ACA399280352ZPBP2c.622C>A (p.Gln208Lys)
c.556C>A (p.Gln186Lys)
c.268C>A (p.Gln90Lys)
c.407-559C>A (n.407-559C>A)
n.813C>A
 gnomAD v4
17g.39872485C=CA2259290930ZPBP2c.622C= (p.Gln208=)
c.556C= (p.Gln186=)
c.268C= (p.Gln90=)
c.407-559C= (n.407-559C=)
n.813C=
17g.39872485C>GCA399280353ZPBP2c.622C>G (p.Gln208Glu)
c.556C>G (p.Gln186Glu)
c.268C>G (p.Gln90Glu)
c.407-559C>G (n.407-559C>G)
n.813C>G
17g.39872485C>TCA399280355ZPBP2c.622C>T (p.Gln208Ter)
c.556C>T (p.Gln186Ter)
c.268C>T (p.Gln90Ter)
c.407-559C>T (n.407-559C>T)
n.813C>T
 dbSNP gnomAD v4
17g.39872485_39872486delinsCACA2259290929ZPBP2c.622_623delinsCA (p.Gln208=)
c.556_557delinsCA (p.Gln186=)
c.268_269delinsCA (p.Gln90=)
c.407-559_407-558delinsCA (n.407-559_407-558delinsCA)
n.813_814delinsCA
17g.39872486A>CCA399280359ZPBP2c.623A>C (p.Gln208Pro)
c.557A>C (p.Gln186Pro)
c.269A>C (p.Gln90Pro)
c.407-558A>C (n.407-558A>C)
n.814A>C
17g.39872486A>GCA399280361ZPBP2c.623A>G (p.Gln208Arg)
c.557A>G (p.Gln186Arg)
c.269A>G (p.Gln90Arg)
c.407-558A>G (n.407-558A>G)
n.814A>G
17g.39872486A>TCA399280363ZPBP2c.623A>T (p.Gln208Leu)
c.557A>T (p.Gln186Leu)
c.269A>T (p.Gln90Leu)
c.407-558A>T (n.407-558A>T)
n.814A>T
17g.39872487delCA8535986ZPBP2c.624del (p.Val209LeufsTer?)
c.558del (p.Val187LeufsTer?)
c.270del (p.Val91LeufsTer?)
c.407-557del (n.407-557del)
c.624del (p.Val209LeufsTer29)
n.815del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872487A>CCA399280367ZPBP2c.624A>C (p.Gln208His)
c.558A>C (p.Gln186His)
c.270A>C (p.Gln90His)
c.407-557A>C (n.407-557A>C)
n.815A>C
17g.39872487A>GCA499931791ZPBP2c.624A>G (p.Gln208=)
c.558A>G (p.Gln186=)
c.270A>G (p.Gln90=)
c.407-557A>G (n.407-557A>G)
n.815A>G
17g.39872487A>TCA399280370ZPBP2c.624A>T (p.Gln208His)
c.558A>T (p.Gln186His)
c.270A>T (p.Gln90His)
c.407-557A>T (n.407-557A>T)
n.815A>T

Number of alleles fetched