Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.100341909C>ACA413999722PCDH19c.2701G>T (p.Asp901Tyr)
c.2842G>T (p.Asp948Tyr)
c.2698G>T (p.Asp900Tyr)
c.2839G>T (p.Asp947Tyr)
Xg.100341909C>GCA413999724PCDH19c.2701G>C (p.Asp901His)
c.2842G>C (p.Asp948His)
c.2698G>C (p.Asp900His)
c.2839G>C (p.Asp947His)
Xg.100341909C>TCA413999721PCDH19c.2701G>A (p.Asp901Asn)
c.2842G>A (p.Asp948Asn)
c.2698G>A (p.Asp900Asn)
c.2839G>A (p.Asp947Asn)
Xg.100341910A>CCA517696564PCDH19c.2700T>G (p.Pro900=)
c.2841T>G (p.Pro947=)
c.2697T>G (p.Pro899=)
c.2838T>G (p.Pro946=)
Xg.100341910A>GCA517696565PCDH19c.2700T>C (p.Pro900=)
c.2841T>C (p.Pro947=)
c.2697T>C (p.Pro899=)
c.2838T>C (p.Pro946=)
Xg.100341910A>TCA517696567PCDH19c.2700T>A (p.Pro900=)
c.2841T>A (p.Pro947=)
c.2697T>A (p.Pro899=)
c.2838T>A (p.Pro946=)
Xg.100341911G>ACA413999729PCDH19c.2699C>T (p.Pro900Leu)
c.2840C>T (p.Pro947Leu)
c.2696C>T (p.Pro899Leu)
c.2837C>T (p.Pro946Leu)
 gnomAD v4
Xg.100341911G>CCA413999726PCDH19c.2699C>G (p.Pro900Arg)
c.2840C>G (p.Pro947Arg)
c.2696C>G (p.Pro899Arg)
c.2837C>G (p.Pro946Arg)
Xg.100341911G>TCA413999727PCDH19c.2699C>A (p.Pro900His)
c.2840C>A (p.Pro947His)
c.2696C>A (p.Pro899His)
c.2837C>A (p.Pro946His)
Xg.100341912G>ACA413999731PCDH19c.2698C>T (p.Pro900Ser)
c.2839C>T (p.Pro947Ser)
c.2695C>T (p.Pro899Ser)
c.2836C>T (p.Pro946Ser)
 gnomAD v4
Xg.100341912G>CCA413999733PCDH19c.2698C>G (p.Pro900Ala)
c.2839C>G (p.Pro947Ala)
c.2695C>G (p.Pro899Ala)
c.2836C>G (p.Pro946Ala)
Xg.100341912G>TCA413999735PCDH19c.2698C>A (p.Pro900Thr)
c.2839C>A (p.Pro947Thr)
c.2695C>A (p.Pro899Thr)
c.2836C>A (p.Pro946Thr)
 gnomAD v4
Xg.100341913C>ACA413999736PCDH19c.2697G>T (p.Met899Ile)
c.2838G>T (p.Met946Ile)
c.2694G>T (p.Met898Ile)
c.2835G>T (p.Met945Ile)
Xg.100341913C>GCA413999738PCDH19c.2697G>C (p.Met899Ile)
c.2838G>C (p.Met946Ile)
c.2694G>C (p.Met898Ile)
c.2835G>C (p.Met945Ile)
Xg.100341913C>TCA413999739PCDH19c.2697G>A (p.Met899Ile)
c.2838G>A (p.Met946Ile)
c.2694G>A (p.Met898Ile)
c.2835G>A (p.Met945Ile)
 gnomAD v4
Xg.100341914A=CA2447955660PCDH19c.2696T= (p.Met899=)
c.2837T= (p.Met946=)
c.2693T= (p.Met898=)
c.2834T= (p.Met945=)
Xg.100341914A>CCA413999742PCDH19c.2696T>G (p.Met899Arg)
c.2837T>G (p.Met946Arg)
c.2693T>G (p.Met898Arg)
c.2834T>G (p.Met945Arg)
Xg.100341914A>GCA413999743PCDH19c.2696T>C (p.Met899Thr)
c.2837T>C (p.Met946Thr)
c.2693T>C (p.Met898Thr)
c.2834T>C (p.Met945Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.100341914A>TCA413999745PCDH19c.2696T>A (p.Met899Lys)
c.2837T>A (p.Met946Lys)
c.2693T>A (p.Met898Lys)
c.2834T>A (p.Met945Lys)
Xg.100341915T>ACA413999746PCDH19c.2695A>T (p.Met899Leu)
c.2836A>T (p.Met946Leu)
c.2692A>T (p.Met898Leu)
c.2833A>T (p.Met945Leu)
 gnomAD v4
Xg.100341915T>CCA16621144PCDH19c.2695A>G (p.Met899Val)
c.2836A>G (p.Met946Val)
c.2692A>G (p.Met898Val)
c.2833A>G (p.Met945Val)
 ClinVar dbSNP gnomAD v4
Xg.100341915T>GCA413999748PCDH19c.2695A>C (p.Met899Leu)
c.2836A>C (p.Met946Leu)
c.2692A>C (p.Met898Leu)
c.2833A>C (p.Met945Leu)
Xg.100341915T=CA2447955661PCDH19c.2695A= (p.Met899=)
c.2836A= (p.Met946=)
c.2692A= (p.Met898=)
c.2833A= (p.Met945=)
Xg.100341916C>ACA413999750PCDH19c.2694G>T (p.Gln898His)
c.2835G>T (p.Gln945His)
c.2691G>T (p.Gln897His)
c.2832G>T (p.Gln944His)
Xg.100341916C>GCA413999752PCDH19c.2694G>C (p.Gln898His)
c.2835G>C (p.Gln945His)
c.2691G>C (p.Gln897His)
c.2832G>C (p.Gln944His)
Xg.100341916C>TCA517696588PCDH19c.2694G>A (p.Gln898=)
c.2835G>A (p.Gln945=)
c.2691G>A (p.Gln897=)
c.2832G>A (p.Gln944=)
Xg.100341917T>ACA413999753PCDH19c.2693A>T (p.Gln898Leu)
c.2834A>T (p.Gln945Leu)
c.2690A>T (p.Gln897Leu)
c.2831A>T (p.Gln944Leu)
Xg.100341917T>CCA413999755PCDH19c.2693A>G (p.Gln898Arg)
c.2834A>G (p.Gln945Arg)
c.2690A>G (p.Gln897Arg)
c.2831A>G (p.Gln944Arg)
 gnomAD v4
Xg.100341917T>GCA413999757PCDH19c.2693A>C (p.Gln898Pro)
c.2834A>C (p.Gln945Pro)
c.2690A>C (p.Gln897Pro)
c.2831A>C (p.Gln944Pro)
 gnomAD v4
Xg.100341918G>ACA413999758PCDH19c.2692C>T (p.Gln898Ter)
c.2833C>T (p.Gln945Ter)
c.2689C>T (p.Gln897Ter)
c.2830C>T (p.Gln944Ter)
 ClinVar dbSNP COSMIC COSMIC
Xg.100341918G>CCA413999760PCDH19c.2692C>G (p.Gln898Glu)
c.2833C>G (p.Gln945Glu)
c.2689C>G (p.Gln897Glu)
c.2830C>G (p.Gln944Glu)
 COSMIC COSMIC
Xg.100341918G>TCA413999761PCDH19c.2692C>A (p.Gln898Lys)
c.2833C>A (p.Gln945Lys)
c.2689C>A (p.Gln897Lys)
c.2830C>A (p.Gln944Lys)
 gnomAD v4
Xg.100341919A>CCA517696596PCDH19c.2691T>G (p.Ser897=)
c.2832T>G (p.Ser944=)
c.2688T>G (p.Ser896=)
c.2829T>G (p.Ser943=)
Xg.100341919A>GCA517696598PCDH19c.2691T>C (p.Ser897=)
c.2832T>C (p.Ser944=)
c.2688T>C (p.Ser896=)
c.2829T>C (p.Ser943=)
Xg.100341919A>TCA517696600PCDH19c.2691T>A (p.Ser897=)
c.2832T>A (p.Ser944=)
c.2688T>A (p.Ser896=)
c.2829T>A (p.Ser943=)
Xg.100341920G>ACA413999763PCDH19c.2690C>T (p.Ser897Phe)
c.2831C>T (p.Ser944Phe)
c.2687C>T (p.Ser896Phe)
c.2828C>T (p.Ser943Phe)
Xg.100341920G>CCA413999765PCDH19c.2690C>G (p.Ser897Cys)
c.2831C>G (p.Ser944Cys)
c.2687C>G (p.Ser896Cys)
c.2828C>G (p.Ser943Cys)
Xg.100341920G>TCA413999766PCDH19c.2690C>A (p.Ser897Tyr)
c.2831C>A (p.Ser944Tyr)
c.2687C>A (p.Ser896Tyr)
c.2828C>A (p.Ser943Tyr)
Xg.100341921A>CCA413999768PCDH19c.2689T>G (p.Ser897Ala)
c.2830T>G (p.Ser944Ala)
c.2686T>G (p.Ser896Ala)
c.2827T>G (p.Ser943Ala)
 gnomAD v4
Xg.100341921A>GCA413999770PCDH19c.2689T>C (p.Ser897Pro)
c.2830T>C (p.Ser944Pro)
c.2686T>C (p.Ser896Pro)
c.2827T>C (p.Ser943Pro)
Xg.100341921A>TCA413999772PCDH19c.2689T>A (p.Ser897Thr)
c.2830T>A (p.Ser944Thr)
c.2686T>A (p.Ser896Thr)
c.2827T>A (p.Ser943Thr)
Xg.100341922T>ACA517696608PCDH19c.2688A>T (p.Gly896=)
c.2829A>T (p.Gly943=)
c.2685A>T (p.Gly895=)
c.2826A>T (p.Gly942=)
Xg.100341922T>CCA517696610PCDH19c.2688A>G (p.Gly896=)
c.2829A>G (p.Gly943=)
c.2685A>G (p.Gly895=)
c.2826A>G (p.Gly942=)
Xg.100341922T>GCA517696612PCDH19c.2688A>C (p.Gly896=)
c.2829A>C (p.Gly943=)
c.2685A>C (p.Gly895=)
c.2826A>C (p.Gly942=)
Xg.100341923C>ACA413999776PCDH19c.2687G>T (p.Gly896Val)
c.2828G>T (p.Gly943Val)
c.2684G>T (p.Gly895Val)
c.2825G>T (p.Gly942Val)
Xg.100341923C=CA2447955662PCDH19c.2687G= (p.Gly896=)
c.2828G= (p.Gly943=)
c.2684G= (p.Gly895=)
c.2825G= (p.Gly942=)
Xg.100341923C>GCA413999774PCDH19c.2687G>C (p.Gly896Ala)
c.2828G>C (p.Gly943Ala)
c.2684G>C (p.Gly895Ala)
c.2825G>C (p.Gly942Ala)
Xg.100341923C>TCA10468703PCDH19c.2687G>A (p.Gly896Glu)
c.2828G>A (p.Gly943Glu)
c.2684G>A (p.Gly895Glu)
c.2825G>A (p.Gly942Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100341925delCA2694250720PCDH19c.2687del (p.Gly896AspfsTer?)
c.2828del (p.Gly943AspfsTer?)
c.2684del (p.Gly895AspfsTer?)
c.2825del (p.Gly942AspfsTer?)
 gnomAD v4
Xg.100341924C>ACA413999778PCDH19c.2686G>T (p.Gly896Ter)
c.2827G>T (p.Gly943Ter)
c.2683G>T (p.Gly895Ter)
c.2824G>T (p.Gly942Ter)
Xg.100341924C=CA2447955663PCDH19c.2686G= (p.Gly896=)
c.2827G= (p.Gly943=)
c.2683G= (p.Gly895=)
c.2824G= (p.Gly942=)
Xg.100341924C>GCA413999779PCDH19c.2686G>C (p.Gly896Arg)
c.2827G>C (p.Gly943Arg)
c.2683G>C (p.Gly895Arg)
c.2824G>C (p.Gly942Arg)
Xg.100341924C>TCA413999781PCDH19c.2686G>A (p.Gly896Arg)
c.2827G>A (p.Gly943Arg)
c.2683G>A (p.Gly895Arg)
c.2824G>A (p.Gly942Arg)
 dbSNP
Xg.100341925C>ACA413999783PCDH19c.2685G>T (p.Met895Ile)
c.2826G>T (p.Met942Ile)
c.2682G>T (p.Met894Ile)
c.2823G>T (p.Met941Ile)
Xg.100341925C>GCA413999785PCDH19c.2685G>C (p.Met895Ile)
c.2826G>C (p.Met942Ile)
c.2682G>C (p.Met894Ile)
c.2823G>C (p.Met941Ile)
Xg.100341925C>TCA413999786PCDH19c.2685G>A (p.Met895Ile)
c.2826G>A (p.Met942Ile)
c.2682G>A (p.Met894Ile)
c.2823G>A (p.Met941Ile)
Xg.100341926A>CCA413999788PCDH19c.2684T>G (p.Met895Arg)
c.2825T>G (p.Met942Arg)
c.2681T>G (p.Met894Arg)
c.2822T>G (p.Met941Arg)
Xg.100341926A>GCA413999790PCDH19c.2684T>C (p.Met895Thr)
c.2825T>C (p.Met942Thr)
c.2681T>C (p.Met894Thr)
c.2822T>C (p.Met941Thr)
 ClinVar
Xg.100341926A>TCA413999792PCDH19c.2684T>A (p.Met895Lys)
c.2825T>A (p.Met942Lys)
c.2681T>A (p.Met894Lys)
c.2822T>A (p.Met941Lys)
Xg.100341927T>ACA413999793PCDH19c.2683A>T (p.Met895Leu)
c.2824A>T (p.Met942Leu)
c.2680A>T (p.Met894Leu)
c.2821A>T (p.Met941Leu)
Xg.100341927T>CCA413999794PCDH19c.2683A>G (p.Met895Val)
c.2824A>G (p.Met942Val)
c.2680A>G (p.Met894Val)
c.2821A>G (p.Met941Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.100341927T>GCA413999796PCDH19c.2683A>C (p.Met895Leu)
c.2824A>C (p.Met942Leu)
c.2680A>C (p.Met894Leu)
c.2821A>C (p.Met941Leu)
Xg.100341927T=CA2447955664PCDH19c.2683A= (p.Met895=)
c.2824A= (p.Met942=)
c.2680A= (p.Met894=)
c.2821A= (p.Met941=)
Xg.100341928G>ACA10468704PCDH19c.2682C>T (p.Ser894=)
c.2823C>T (p.Ser941=)
c.2679C>T (p.Ser893=)
c.2820C>T (p.Ser940=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100341928G>CCA517696628PCDH19c.2682C>G (p.Ser894=)
c.2823C>G (p.Ser941=)
c.2679C>G (p.Ser893=)
c.2820C>G (p.Ser940=)
Xg.100341928G=CA2447955665PCDH19c.2682C= (p.Ser894=)
c.2823C= (p.Ser941=)
c.2679C= (p.Ser893=)
c.2820C= (p.Ser940=)
Xg.100341928G>TCA517696630PCDH19c.2682C>A (p.Ser894=)
c.2823C>A (p.Ser941=)
c.2679C>A (p.Ser893=)
c.2820C>A (p.Ser940=)
Xg.100341929G>ACA413999800PCDH19c.2681C>T (p.Ser894Phe)
c.2822C>T (p.Ser941Phe)
c.2678C>T (p.Ser893Phe)
c.2819C>T (p.Ser940Phe)
 dbSNP gnomAD v3 gnomAD v4
Xg.100341929G>CCA413999802PCDH19c.2681C>G (p.Ser894Cys)
c.2822C>G (p.Ser941Cys)
c.2678C>G (p.Ser893Cys)
c.2819C>G (p.Ser940Cys)
Xg.100341929G=CA2447955666PCDH19c.2681C= (p.Ser894=)
c.2822C= (p.Ser941=)
c.2678C= (p.Ser893=)
c.2819C= (p.Ser940=)
Xg.100341929G>TCA413999799PCDH19c.2681C>A (p.Ser894Tyr)
c.2822C>A (p.Ser941Tyr)
c.2678C>A (p.Ser893Tyr)
c.2819C>A (p.Ser940Tyr)
Xg.100341930A>CCA413999804PCDH19c.2680T>G (p.Ser894Ala)
c.2821T>G (p.Ser941Ala)
c.2677T>G (p.Ser893Ala)
c.2818T>G (p.Ser940Ala)
Xg.100341930A>GCA413999806PCDH19c.2680T>C (p.Ser894Pro)
c.2821T>C (p.Ser941Pro)
c.2677T>C (p.Ser893Pro)
c.2818T>C (p.Ser940Pro)
Xg.100341930A>TCA413999807PCDH19c.2680T>A (p.Ser894Thr)
c.2821T>A (p.Ser941Thr)
c.2677T>A (p.Ser893Thr)
c.2818T>A (p.Ser940Thr)
Xg.100341931G>ACA517696638PCDH19c.2679C>T (p.Thr893=)
c.2820C>T (p.Thr940=)
c.2676C>T (p.Thr892=)
c.2817C>T (p.Thr939=)
 dbSNP gnomAD v4
Xg.100341931G>CCA10468705PCDH19c.2679C>G (p.Thr893=)
c.2820C>G (p.Thr940=)
c.2676C>G (p.Thr892=)
c.2817C>G (p.Thr939=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100341931G=CA2447955667PCDH19c.2679C= (p.Thr893=)
c.2820C= (p.Thr940=)
c.2676C= (p.Thr892=)
c.2817C= (p.Thr939=)
Xg.100341931G>TCA517696641PCDH19c.2679C>A (p.Thr893=)
c.2820C>A (p.Thr940=)
c.2676C>A (p.Thr892=)
c.2817C>A (p.Thr939=)
Xg.100341932G>ACA413999811PCDH19c.2678C>T (p.Thr893Ile)
c.2819C>T (p.Thr940Ile)
c.2675C>T (p.Thr892Ile)
c.2816C>T (p.Thr939Ile)
Xg.100341932G>CCA413999810PCDH19c.2678C>G (p.Thr893Ser)
c.2819C>G (p.Thr940Ser)
c.2675C>G (p.Thr892Ser)
c.2816C>G (p.Thr939Ser)
Xg.100341932G>TCA413999809PCDH19c.2678C>A (p.Thr893Asn)
c.2819C>A (p.Thr940Asn)
c.2675C>A (p.Thr892Asn)
c.2816C>A (p.Thr939Asn)
Xg.100341933T>ACA413999812PCDH19c.2677A>T (p.Thr893Ser)
c.2818A>T (p.Thr940Ser)
c.2674A>T (p.Thr892Ser)
c.2815A>T (p.Thr939Ser)
Xg.100341933T>CCA413999813PCDH19c.2677A>G (p.Thr893Ala)
c.2818A>G (p.Thr940Ala)
c.2674A>G (p.Thr892Ala)
c.2815A>G (p.Thr939Ala)
Xg.100341933T>GCA413999815PCDH19c.2677A>C (p.Thr893Pro)
c.2818A>C (p.Thr940Pro)
c.2674A>C (p.Thr892Pro)
c.2815A>C (p.Thr939Pro)
Xg.100341934delCA2534914757PCDH19c.2676del (p.Thr893ProfsTer?)
c.2817del (p.Thr940ProfsTer?)
c.2673del (p.Thr892ProfsTer?)
c.2814del (p.Thr939ProfsTer?)
Xg.100341934C>ACA517696648PCDH19c.2676G>T (p.Val892=)
c.2817G>T (p.Val939=)
c.2673G>T (p.Val891=)
c.2814G>T (p.Val938=)
 gnomAD v4
Xg.100341934C>GCA517696650PCDH19c.2676G>C (p.Val892=)
c.2817G>C (p.Val939=)
c.2673G>C (p.Val891=)
c.2814G>C (p.Val938=)
Xg.100341934C>TCA517696652PCDH19c.2676G>A (p.Val892=)
c.2817G>A (p.Val939=)
c.2673G>A (p.Val891=)
c.2814G>A (p.Val938=)
Xg.100341935A>CCA413999817PCDH19c.2675T>G (p.Val892Gly)
c.2816T>G (p.Val939Gly)
c.2672T>G (p.Val891Gly)
c.2813T>G (p.Val938Gly)
Xg.100341935A>GCA413999818PCDH19c.2675T>C (p.Val892Ala)
c.2816T>C (p.Val939Ala)
c.2672T>C (p.Val891Ala)
c.2813T>C (p.Val938Ala)
Xg.100341935A>TCA413999820PCDH19c.2675T>A (p.Val892Glu)
c.2816T>A (p.Val939Glu)
c.2672T>A (p.Val891Glu)
c.2813T>A (p.Val938Glu)
Xg.100341936C>ACA413999821PCDH19c.2674G>T (p.Val892Leu)
c.2815G>T (p.Val939Leu)
c.2671G>T (p.Val891Leu)
c.2812G>T (p.Val938Leu)
Xg.100341936C=CA2447955668PCDH19c.2674G= (p.Val892=)
c.2815G= (p.Val939=)
c.2671G= (p.Val891=)
c.2812G= (p.Val938=)
Xg.100341936C>GCA413999824PCDH19c.2674G>C (p.Val892Leu)
c.2815G>C (p.Val939Leu)
c.2671G>C (p.Val891Leu)
c.2812G>C (p.Val938Leu)
Xg.100341936C>TCA413999823PCDH19c.2674G>A (p.Val892Met)
c.2815G>A (p.Val939Met)
c.2671G>A (p.Val891Met)
c.2812G>A (p.Val938Met)
 dbSNP
Xg.100341937A>CCA413999827PCDH19c.2673T>G (p.Ser891Arg)
c.2814T>G (p.Ser938Arg)
c.2670T>G (p.Ser890Arg)
c.2811T>G (p.Ser937Arg)
Xg.100341937A>GCA517696659PCDH19c.2673T>C (p.Ser891=)
c.2814T>C (p.Ser938=)
c.2670T>C (p.Ser890=)
c.2811T>C (p.Ser937=)
Xg.100341937A>TCA413999828PCDH19c.2673T>A (p.Ser891Arg)
c.2814T>A (p.Ser938Arg)
c.2670T>A (p.Ser890Arg)
c.2811T>A (p.Ser937Arg)
Xg.100341938C>ACA10468706PCDH19c.2672G>T (p.Ser891Ile)
c.2813G>T (p.Ser938Ile)
c.2669G>T (p.Ser890Ile)
c.2810G>T (p.Ser937Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100341938C=CA2447955669PCDH19c.2672G= (p.Ser891=)
c.2813G= (p.Ser938=)
c.2669G= (p.Ser890=)
c.2810G= (p.Ser937=)
Xg.100341938C>GCA413999832PCDH19c.2672G>C (p.Ser891Thr)
c.2813G>C (p.Ser938Thr)
c.2669G>C (p.Ser890Thr)
c.2810G>C (p.Ser937Thr)
Xg.100341938C>TCA413999833PCDH19c.2672G>A (p.Ser891Asn)
c.2813G>A (p.Ser938Asn)
c.2669G>A (p.Ser890Asn)
c.2810G>A (p.Ser937Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.100341939T>ACA413999834PCDH19c.2671A>T (p.Ser891Cys)
c.2812A>T (p.Ser938Cys)
c.2668A>T (p.Ser890Cys)
c.2809A>T (p.Ser937Cys)
Xg.100341939T>CCA413999836PCDH19c.2671A>G (p.Ser891Gly)
c.2812A>G (p.Ser938Gly)
c.2668A>G (p.Ser890Gly)
c.2809A>G (p.Ser937Gly)
 COSMIC COSMIC
Xg.100341939T>GCA413999837PCDH19c.2671A>C (p.Ser891Arg)
c.2812A>C (p.Ser938Arg)
c.2668A>C (p.Ser890Arg)
c.2809A>C (p.Ser937Arg)
Xg.100341940G>ACA517696672PCDH19c.2670C>T (p.Thr890=)
c.2811C>T (p.Thr937=)
c.2667C>T (p.Thr889=)
c.2808C>T (p.Thr936=)
Xg.100341940G>CCA517696670PCDH19c.2670C>G (p.Thr890=)
c.2811C>G (p.Thr937=)
c.2667C>G (p.Thr889=)
c.2808C>G (p.Thr936=)
Xg.100341940G>TCA517696669PCDH19c.2670C>A (p.Thr890=)
c.2811C>A (p.Thr937=)
c.2667C>A (p.Thr889=)
c.2808C>A (p.Thr936=)
Xg.100341941G>ACA413999840PCDH19c.2669C>T (p.Thr890Ile)
c.2810C>T (p.Thr937Ile)
c.2666C>T (p.Thr889Ile)
c.2807C>T (p.Thr936Ile)
 gnomAD v4
Xg.100341941G>CCA413999838PCDH19c.2669C>G (p.Thr890Ser)
c.2810C>G (p.Thr937Ser)
c.2666C>G (p.Thr889Ser)
c.2807C>G (p.Thr936Ser)
Xg.100341941G>TCA413999839PCDH19c.2669C>A (p.Thr890Asn)
c.2810C>A (p.Thr937Asn)
c.2666C>A (p.Thr889Asn)
c.2807C>A (p.Thr936Asn)
Xg.100341942T>ACA413999842PCDH19c.2668A>T (p.Thr890Ser)
c.2809A>T (p.Thr937Ser)
c.2665A>T (p.Thr889Ser)
c.2806A>T (p.Thr936Ser)
 COSMIC COSMIC
Xg.100341942T>CCA413999844PCDH19c.2668A>G (p.Thr890Ala)
c.2809A>G (p.Thr937Ala)
c.2665A>G (p.Thr889Ala)
c.2806A>G (p.Thr936Ala)
Xg.100341942T>GCA413999845PCDH19c.2668A>C (p.Thr890Pro)
c.2809A>C (p.Thr937Pro)
c.2665A>C (p.Thr889Pro)
c.2806A>C (p.Thr936Pro)
Xg.100341943G>ACA517696680PCDH19c.2667C>T (p.Asn889=)
c.2808C>T (p.Asn936=)
c.2664C>T (p.Asn888=)
c.2805C>T (p.Asn935=)
Xg.100341943G>CCA413999846PCDH19c.2667C>G (p.Asn889Lys)
c.2808C>G (p.Asn936Lys)
c.2664C>G (p.Asn888Lys)
c.2805C>G (p.Asn935Lys)
Xg.100341943G>TCA413999848PCDH19c.2667C>A (p.Asn889Lys)
c.2808C>A (p.Asn936Lys)
c.2664C>A (p.Asn888Lys)
c.2805C>A (p.Asn935Lys)
Xg.100341944T>ACA413999850PCDH19c.2666A>T (p.Asn889Ile)
c.2807A>T (p.Asn936Ile)
c.2663A>T (p.Asn888Ile)
c.2804A>T (p.Asn935Ile)
Xg.100341944T>CCA413999853PCDH19c.2666A>G (p.Asn889Ser)
c.2807A>G (p.Asn936Ser)
c.2663A>G (p.Asn888Ser)
c.2804A>G (p.Asn935Ser)
Xg.100341944T>GCA413999852PCDH19c.2666A>C (p.Asn889Thr)
c.2807A>C (p.Asn936Thr)
c.2663A>C (p.Asn888Thr)
c.2804A>C (p.Asn935Thr)
Xg.100341945T>ACA413999854PCDH19c.2665A>T (p.Asn889Tyr)
c.2806A>T (p.Asn936Tyr)
c.2662A>T (p.Asn888Tyr)
c.2803A>T (p.Asn935Tyr)
Xg.100341945T>CCA413999856PCDH19c.2665A>G (p.Asn889Asp)
c.2806A>G (p.Asn936Asp)
c.2662A>G (p.Asn888Asp)
c.2803A>G (p.Asn935Asp)
Xg.100341945T>GCA413999858PCDH19c.2665A>C (p.Asn889His)
c.2806A>C (p.Asn936His)
c.2662A>C (p.Asn888His)
c.2803A>C (p.Asn935His)
Xg.100341946C>ACA517696690PCDH19c.2664G>T (p.Leu888=)
c.2805G>T (p.Leu935=)
c.2661G>T (p.Leu887=)
c.2802G>T (p.Leu934=)
Xg.100341946C>GCA517696692PCDH19c.2664G>C (p.Leu888=)
c.2805G>C (p.Leu935=)
c.2661G>C (p.Leu887=)
c.2802G>C (p.Leu934=)
Xg.100341946C>TCA517696694PCDH19c.2664G>A (p.Leu888=)
c.2805G>A (p.Leu935=)
c.2661G>A (p.Leu887=)
c.2802G>A (p.Leu934=)
Xg.100341947A>CCA413999860PCDH19c.2663T>G (p.Leu888Arg)
c.2804T>G (p.Leu935Arg)
c.2660T>G (p.Leu887Arg)
c.2801T>G (p.Leu934Arg)
Xg.100341947A>GCA413999861PCDH19c.2663T>C (p.Leu888Pro)
c.2804T>C (p.Leu935Pro)
c.2660T>C (p.Leu887Pro)
c.2801T>C (p.Leu934Pro)
Xg.100341947A>TCA413999863PCDH19c.2663T>A (p.Leu888Gln)
c.2804T>A (p.Leu935Gln)
c.2660T>A (p.Leu887Gln)
c.2801T>A (p.Leu934Gln)
Xg.100341948G>ACA517696699PCDH19c.2662C>T (p.Leu888=)
c.2803C>T (p.Leu935=)
c.2659C>T (p.Leu887=)
c.2800C>T (p.Leu934=)
 dbSNP gnomAD v3 gnomAD v4
Xg.100341948G>CCA413999865PCDH19c.2662C>G (p.Leu888Val)
c.2803C>G (p.Leu935Val)
c.2659C>G (p.Leu887Val)
c.2800C>G (p.Leu934Val)
Xg.100341948G=CA2447955670PCDH19c.2662C= (p.Leu888=)
c.2803C= (p.Leu935=)
c.2659C= (p.Leu887=)
c.2800C= (p.Leu934=)
Xg.100341948G>TCA413999867PCDH19c.2662C>A (p.Leu888Met)
c.2803C>A (p.Leu935Met)
c.2659C>A (p.Leu887Met)
c.2800C>A (p.Leu934Met)
Xg.100341949C>ACA517696701PCDH19c.2661G>T (p.Val887=)
c.2802G>T (p.Val934=)
c.2658G>T (p.Val886=)
c.2799G>T (p.Val933=)
Xg.100341949C>GCA517696703PCDH19c.2661G>C (p.Val887=)
c.2802G>C (p.Val934=)
c.2658G>C (p.Val886=)
c.2799G>C (p.Val933=)
Xg.100341949C>TCA517696705PCDH19c.2661G>A (p.Val887=)
c.2802G>A (p.Val934=)
c.2658G>A (p.Val886=)
c.2799G>A (p.Val933=)
Xg.100341950A>CCA413999869PCDH19c.2660T>G (p.Val887Gly)
c.2801T>G (p.Val934Gly)
c.2657T>G (p.Val886Gly)
c.2798T>G (p.Val933Gly)
Xg.100341950A>GCA413999871PCDH19c.2660T>C (p.Val887Ala)
c.2801T>C (p.Val934Ala)
c.2657T>C (p.Val886Ala)
c.2798T>C (p.Val933Ala)
Xg.100341950A>TCA413999873PCDH19c.2660T>A (p.Val887Glu)
c.2801T>A (p.Val934Glu)
c.2657T>A (p.Val886Glu)
c.2798T>A (p.Val933Glu)
Xg.100341951C>ACA413999876PCDH19c.2659G>T (p.Val887Leu)
c.2800G>T (p.Val934Leu)
c.2656G>T (p.Val886Leu)
c.2797G>T (p.Val933Leu)
Xg.100341951C=CA2447955671PCDH19c.2659G= (p.Val887=)
c.2800G= (p.Val934=)
c.2656G= (p.Val886=)
c.2797G= (p.Val933=)
Xg.100341951C>GCA413999875PCDH19c.2659G>C (p.Val887Leu)
c.2800G>C (p.Val934Leu)
c.2656G>C (p.Val886Leu)
c.2797G>C (p.Val933Leu)
Xg.100341951C>TCA413999874PCDH19c.2659G>A (p.Val887Met)
c.2800G>A (p.Val934Met)
c.2656G>A (p.Val886Met)
c.2797G>A (p.Val933Met)
 dbSNP
Xg.100341952A>CCA413999880PCDH19c.2658T>G (p.Asp886Glu)
c.2799T>G (p.Asp933Glu)
c.2655T>G (p.Asp885Glu)
c.2796T>G (p.Asp932Glu)
Xg.100341952A>GCA517696712PCDH19c.2658T>C (p.Asp886=)
c.2799T>C (p.Asp933=)
c.2655T>C (p.Asp885=)
c.2796T>C (p.Asp932=)
Xg.100341952A>TCA413999878PCDH19c.2658T>A (p.Asp886Glu)
c.2799T>A (p.Asp933Glu)
c.2655T>A (p.Asp885Glu)
c.2796T>A (p.Asp932Glu)
Xg.100341953T>ACA413999882PCDH19c.2657A>T (p.Asp886Val)
c.2798A>T (p.Asp933Val)
c.2654A>T (p.Asp885Val)
c.2795A>T (p.Asp932Val)
Xg.100341953T>CCA10468707PCDH19c.2657A>G (p.Asp886Gly)
c.2798A>G (p.Asp933Gly)
c.2654A>G (p.Asp885Gly)
c.2795A>G (p.Asp932Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100341953T>GCA413999883PCDH19c.2657A>C (p.Asp886Ala)
c.2798A>C (p.Asp933Ala)
c.2654A>C (p.Asp885Ala)
c.2795A>C (p.Asp932Ala)
Xg.100341953T=CA2447955672PCDH19c.2657A= (p.Asp886=)
c.2798A= (p.Asp933=)
c.2654A= (p.Asp885=)
c.2795A= (p.Asp932=)
Xg.100341954C>ACA413999885PCDH19c.2656G>T (p.Asp886Tyr)
c.2797G>T (p.Asp933Tyr)
c.2653G>T (p.Asp885Tyr)
c.2794G>T (p.Asp932Tyr)
Xg.100341954C=CA2447955673PCDH19c.2656G= (p.Asp886=)
c.2797G= (p.Asp933=)
c.2653G= (p.Asp885=)
c.2794G= (p.Asp932=)
Xg.100341954C>GCA413999887PCDH19c.2656G>C (p.Asp886His)
c.2797G>C (p.Asp933His)
c.2653G>C (p.Asp885His)
c.2794G>C (p.Asp932His)
Xg.100341954C>TCA413999888PCDH19c.2656G>A (p.Asp886Asn)
c.2797G>A (p.Asp933Asn)
c.2653G>A (p.Asp885Asn)
c.2794G>A (p.Asp932Asn)
 dbSNP gnomAD v4
Xg.100341955G>ACA295141PCDH19c.2655C>T (p.Asn885=)
c.2796C>T (p.Asn932=)
c.2652C>T (p.Asn884=)
c.2793C>T (p.Asn931=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100341955G>CCA413999889PCDH19c.2655C>G (p.Asn885Lys)
c.2796C>G (p.Asn932Lys)
c.2652C>G (p.Asn884Lys)
c.2793C>G (p.Asn931Lys)
Xg.100341955G=CA2447955674PCDH19c.2655C= (p.Asn885=)
c.2796C= (p.Asn932=)
c.2652C= (p.Asn884=)
c.2793C= (p.Asn931=)
Xg.100341955G>TCA413999891PCDH19c.2655C>A (p.Asn885Lys)
c.2796C>A (p.Asn932Lys)
c.2652C>A (p.Asn884Lys)
c.2793C>A (p.Asn931Lys)
Xg.100341956T>ACA413999893PCDH19c.2654A>T (p.Asn885Ile)
c.2795A>T (p.Asn932Ile)
c.2651A>T (p.Asn884Ile)
c.2792A>T (p.Asn931Ile)
Xg.100341956T>CCA413999894PCDH19c.2654A>G (p.Asn885Ser)
c.2795A>G (p.Asn932Ser)
c.2651A>G (p.Asn884Ser)
c.2792A>G (p.Asn931Ser)
 ClinVar dbSNP
Xg.100341956T>GCA413999896PCDH19c.2654A>C (p.Asn885Thr)
c.2795A>C (p.Asn932Thr)
c.2651A>C (p.Asn884Thr)
c.2792A>C (p.Asn931Thr)
Xg.100341956T=CA2447955675PCDH19c.2654A= (p.Asn885=)
c.2795A= (p.Asn932=)
c.2651A= (p.Asn884=)
c.2792A= (p.Asn931=)
Xg.100341957T>ACA413999901PCDH19c.2653A>T (p.Asn885Tyr)
c.2794A>T (p.Asn932Tyr)
c.2650A>T (p.Asn884Tyr)
c.2791A>T (p.Asn931Tyr)
Xg.100341957T>CCA413999897PCDH19c.2653A>G (p.Asn885Asp)
c.2794A>G (p.Asn932Asp)
c.2650A>G (p.Asn884Asp)
c.2791A>G (p.Asn931Asp)
Xg.100341957T>GCA413999899PCDH19c.2653A>C (p.Asn885His)
c.2794A>C (p.Asn932His)
c.2650A>C (p.Asn884His)
c.2791A>C (p.Asn931His)
Xg.100341958G>ACA517696732PCDH19c.2652C>T (p.Val884=)
c.2793C>T (p.Val931=)
c.2649C>T (p.Val883=)
c.2790C>T (p.Val930=)
Xg.100341958G>CCA517696735PCDH19c.2652C>G (p.Val884=)
c.2793C>G (p.Val931=)
c.2649C>G (p.Val883=)
c.2790C>G (p.Val930=)
Xg.100341958G>TCA517696733PCDH19c.2652C>A (p.Val884=)
c.2793C>A (p.Val931=)
c.2649C>A (p.Val883=)
c.2790C>A (p.Val930=)
Xg.100341959A>CCA413999902PCDH19c.2651T>G (p.Val884Gly)
c.2792T>G (p.Val931Gly)
c.2648T>G (p.Val883Gly)
c.2789T>G (p.Val930Gly)
Xg.100341959A>GCA413999904PCDH19c.2651T>C (p.Val884Ala)
c.2792T>C (p.Val931Ala)
c.2648T>C (p.Val883Ala)
c.2789T>C (p.Val930Ala)
Xg.100341959A>TCA413999906PCDH19c.2651T>A (p.Val884Asp)
c.2792T>A (p.Val931Asp)
c.2648T>A (p.Val883Asp)
c.2789T>A (p.Val930Asp)
Xg.100341960C>ACA413999908PCDH19c.2650G>T (p.Val884Phe)
c.2791G>T (p.Val931Phe)
c.2647G>T (p.Val883Phe)
c.2788G>T (p.Val930Phe)
Xg.100341960C>GCA413999909PCDH19c.2650G>C (p.Val884Leu)
c.2791G>C (p.Val931Leu)
c.2647G>C (p.Val883Leu)
c.2788G>C (p.Val930Leu)
Xg.100341960C>TCA413999911PCDH19c.2650G>A (p.Val884Ile)
c.2791G>A (p.Val931Ile)
c.2647G>A (p.Val883Ile)
c.2788G>A (p.Val930Ile)
Xg.100341961A=CA2447955676PCDH19c.2649T= (p.Ala883=)
c.2790T= (p.Ala930=)
c.2646T= (p.Ala882=)
c.2787T= (p.Ala929=)
Xg.100341961A>CCA517696744PCDH19c.2649T>G (p.Ala883=)
c.2790T>G (p.Ala930=)
c.2646T>G (p.Ala882=)
c.2787T>G (p.Ala929=)
Xg.100341961A>GCA10468708PCDH19c.2649T>C (p.Ala883=)
c.2790T>C (p.Ala930=)
c.2646T>C (p.Ala882=)
c.2787T>C (p.Ala929=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100341961A>TCA517696747PCDH19c.2649T>A (p.Ala883=)
c.2790T>A (p.Ala930=)
c.2646T>A (p.Ala882=)
c.2787T>A (p.Ala929=)
Xg.100341962G>ACA413999914PCDH19c.2648C>T (p.Ala883Val)
c.2789C>T (p.Ala930Val)
c.2645C>T (p.Ala882Val)
c.2786C>T (p.Ala929Val)
Xg.100341962G>CCA413999916PCDH19c.2648C>G (p.Ala883Gly)
c.2789C>G (p.Ala930Gly)
c.2645C>G (p.Ala882Gly)
c.2786C>G (p.Ala929Gly)
Xg.100341962G>TCA413999918PCDH19c.2648C>A (p.Ala883Asp)
c.2789C>A (p.Ala930Asp)
c.2645C>A (p.Ala882Asp)
c.2786C>A (p.Ala929Asp)
 gnomAD v4
Xg.100341963C>ACA413999919PCDH19c.2647G>T (p.Ala883Ser)
c.2788G>T (p.Ala930Ser)
c.2644G>T (p.Ala882Ser)
c.2785G>T (p.Ala929Ser)
Xg.100341963C>GCA413999921PCDH19c.2647G>C (p.Ala883Pro)
c.2788G>C (p.Ala930Pro)
c.2644G>C (p.Ala882Pro)
c.2785G>C (p.Ala929Pro)
Xg.100341963C>TCA413999923PCDH19c.2647G>A (p.Ala883Thr)
c.2788G>A (p.Ala930Thr)
c.2644G>A (p.Ala882Thr)
c.2785G>A (p.Ala929Thr)
 dbSNP
Xg.100341964A>CCA517696755PCDH19c.2646T>G (p.Thr882=)
c.2787T>G (p.Thr929=)
c.2643T>G (p.Thr881=)
c.2784T>G (p.Thr928=)
Xg.100341964A>GCA517696759PCDH19c.2646T>C (p.Thr882=)
c.2787T>C (p.Thr929=)
c.2643T>C (p.Thr881=)
c.2784T>C (p.Thr928=)
Xg.100341964A>TCA517696757PCDH19c.2646T>A (p.Thr882=)
c.2787T>A (p.Thr929=)
c.2643T>A (p.Thr881=)
c.2784T>A (p.Thr928=)
Xg.100341965G>ACA333821204PCDH19c.2645C>T (p.Thr882Ile)
c.2786C>T (p.Thr929Ile)
c.2642C>T (p.Thr881Ile)
c.2783C>T (p.Thr928Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.100341965G>CCA413999927PCDH19c.2645C>G (p.Thr882Ser)
c.2786C>G (p.Thr929Ser)
c.2642C>G (p.Thr881Ser)
c.2783C>G (p.Thr928Ser)
Xg.100341965G=CA2447955677PCDH19c.2645C= (p.Thr882=)
c.2786C= (p.Thr929=)
c.2642C= (p.Thr881=)
c.2783C= (p.Thr928=)
Xg.100341965G>TCA413999925PCDH19c.2645C>A (p.Thr882Asn)
c.2786C>A (p.Thr929Asn)
c.2642C>A (p.Thr881Asn)
c.2783C>A (p.Thr928Asn)
 gnomAD v4
Xg.100341966T>ACA413999929PCDH19c.2644A>T (p.Thr882Ser)
c.2785A>T (p.Thr929Ser)
c.2641A>T (p.Thr881Ser)
c.2782A>T (p.Thr928Ser)
Xg.100341966T>CCA413999932PCDH19c.2644A>G (p.Thr882Ala)
c.2785A>G (p.Thr929Ala)
c.2641A>G (p.Thr881Ala)
c.2782A>G (p.Thr928Ala)
 dbSNP gnomAD v4
Xg.100341966T>GCA413999931PCDH19c.2644A>C (p.Thr882Pro)
c.2785A>C (p.Thr929Pro)
c.2641A>C (p.Thr881Pro)
c.2782A>C (p.Thr928Pro)
Xg.100341966T=CA2447955678PCDH19c.2644A= (p.Thr882=)
c.2785A= (p.Thr929=)
c.2641A= (p.Thr881=)
c.2782A= (p.Thr928=)
Xg.100341967A>CCA413999934PCDH19c.2643T>G (p.Asp881Glu)
c.2784T>G (p.Asp928Glu)
c.2640T>G (p.Asp880Glu)
c.2781T>G (p.Asp927Glu)
Xg.100341967A>GCA517696780PCDH19c.2643T>C (p.Asp881=)
c.2784T>C (p.Asp928=)
c.2640T>C (p.Asp880=)
c.2781T>C (p.Asp927=)
Xg.100341967A>TCA413999935PCDH19c.2643T>A (p.Asp881Glu)
c.2784T>A (p.Asp928Glu)
c.2640T>A (p.Asp880Glu)
c.2781T>A (p.Asp927Glu)
Xg.100341968T>ACA413999937PCDH19c.2642A>T (p.Asp881Val)
c.2783A>T (p.Asp928Val)
c.2639A>T (p.Asp880Val)
c.2780A>T (p.Asp927Val)
Xg.100341968T>CCA413999938PCDH19c.2642A>G (p.Asp881Gly)
c.2783A>G (p.Asp928Gly)
c.2639A>G (p.Asp880Gly)
c.2780A>G (p.Asp927Gly)
Xg.100341968T>GCA413999939PCDH19c.2642A>C (p.Asp881Ala)
c.2783A>C (p.Asp928Ala)
c.2639A>C (p.Asp880Ala)
c.2780A>C (p.Asp927Ala)
Xg.100341969C>ACA413999940PCDH19c.2641G>T (p.Asp881Tyr)
c.2782G>T (p.Asp928Tyr)
c.2638G>T (p.Asp880Tyr)
c.2779G>T (p.Asp927Tyr)
Xg.100341969C>GCA413999942PCDH19c.2641G>C (p.Asp881His)
c.2782G>C (p.Asp928His)
c.2638G>C (p.Asp880His)
c.2779G>C (p.Asp927His)
Xg.100341969C>TCA413999944PCDH19c.2641G>A (p.Asp881Asn)
c.2782G>A (p.Asp928Asn)
c.2638G>A (p.Asp880Asn)
c.2779G>A (p.Asp927Asn)
Xg.100341970A=CA2447955679PCDH19c.2640T= (p.Cys880=)
c.2781T= (p.Cys927=)
c.2637T= (p.Cys879=)
c.2778T= (p.Cys926=)
Xg.100341970A>CCA413999945PCDH19c.2640T>G (p.Cys880Trp)
c.2781T>G (p.Cys927Trp)
c.2637T>G (p.Cys879Trp)
c.2778T>G (p.Cys926Trp)
Xg.100341970A>GCA517696798PCDH19c.2640T>C (p.Cys880=)
c.2781T>C (p.Cys927=)
c.2637T>C (p.Cys879=)
c.2778T>C (p.Cys926=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.100341970A>TCA413999947PCDH19c.2640T>A (p.Cys880Ter)
c.2781T>A (p.Cys927Ter)
c.2637T>A (p.Cys879Ter)
c.2778T>A (p.Cys926Ter)
Xg.100341971C>ACA413999952PCDH19c.2639G>T (p.Cys880Phe)
c.2780G>T (p.Cys927Phe)
c.2636G>T (p.Cys879Phe)
c.2777G>T (p.Cys926Phe)
 gnomAD v4
Xg.100341971C>GCA413999950PCDH19c.2639G>C (p.Cys880Ser)
c.2780G>C (p.Cys927Ser)
c.2636G>C (p.Cys879Ser)
c.2777G>C (p.Cys926Ser)
Xg.100341971C>TCA413999948PCDH19c.2639G>A (p.Cys880Tyr)
c.2780G>A (p.Cys927Tyr)
c.2636G>A (p.Cys879Tyr)
c.2777G>A (p.Cys926Tyr)
Xg.100341972A>CCA413999954PCDH19c.2638T>G (p.Cys880Gly)
c.2779T>G (p.Cys927Gly)
c.2635T>G (p.Cys879Gly)
c.2776T>G (p.Cys926Gly)
Xg.100341972A>GCA413999955PCDH19c.2638T>C (p.Cys880Arg)
c.2779T>C (p.Cys927Arg)
c.2635T>C (p.Cys879Arg)
c.2776T>C (p.Cys926Arg)
 gnomAD v4
Xg.100341972A>TCA413999957PCDH19c.2638T>A (p.Cys880Ser)
c.2779T>A (p.Cys927Ser)
c.2635T>A (p.Cys879Ser)
c.2776T>A (p.Cys926Ser)
Xg.100341973A=CA2447955680PCDH19c.2637T= (p.Tyr879=)
c.2778T= (p.Tyr926=)
c.2634T= (p.Tyr878=)
c.2775T= (p.Tyr925=)
Xg.100341973A>CCA413999959PCDH19c.2637T>G (p.Tyr879Ter)
c.2778T>G (p.Tyr926Ter)
c.2634T>G (p.Tyr878Ter)
c.2775T>G (p.Tyr925Ter)
Xg.100341973A>GCA10468709PCDH19c.2637T>C (p.Tyr879=)
c.2778T>C (p.Tyr926=)
c.2634T>C (p.Tyr878=)
c.2775T>C (p.Tyr925=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100341973A>TCA413999961PCDH19c.2637T>A (p.Tyr879Ter)
c.2778T>A (p.Tyr926Ter)
c.2634T>A (p.Tyr878Ter)
c.2775T>A (p.Tyr925Ter)
Xg.100341974T>ACA413999963PCDH19c.2636A>T (p.Tyr879Phe)
c.2777A>T (p.Tyr926Phe)
c.2633A>T (p.Tyr878Phe)
c.2774A>T (p.Tyr925Phe)
Xg.100341974T>CCA413999964PCDH19c.2636A>G (p.Tyr879Cys)
c.2777A>G (p.Tyr926Cys)
c.2633A>G (p.Tyr878Cys)
c.2774A>G (p.Tyr925Cys)
Xg.100341974T>GCA413999966PCDH19c.2636A>C (p.Tyr879Ser)
c.2777A>C (p.Tyr926Ser)
c.2633A>C (p.Tyr878Ser)
c.2774A>C (p.Tyr925Ser)
Xg.100341975A>CCA413999968PCDH19c.2635T>G (p.Tyr879Asp)
c.2776T>G (p.Tyr926Asp)
c.2632T>G (p.Tyr878Asp)
c.2773T>G (p.Tyr925Asp)
Xg.100341975A>GCA413999969PCDH19c.2635T>C (p.Tyr879His)
c.2776T>C (p.Tyr926His)
c.2632T>C (p.Tyr878His)
c.2773T>C (p.Tyr925His)
Xg.100341975A>TCA413999971PCDH19c.2635T>A (p.Tyr879Asn)
c.2776T>A (p.Tyr926Asn)
c.2632T>A (p.Tyr878Asn)
c.2773T>A (p.Tyr925Asn)
Xg.100341976C>ACA517696822PCDH19c.2634G>T (p.Leu878=)
c.2775G>T (p.Leu925=)
c.2631G>T (p.Leu877=)
c.2772G>T (p.Leu924=)
Xg.100341976C=CA2447955681PCDH19c.2634G= (p.Leu878=)
c.2775G= (p.Leu925=)
c.2631G= (p.Leu877=)
c.2772G= (p.Leu924=)
Xg.100341976C>GCA517696824PCDH19c.2634G>C (p.Leu878=)
c.2775G>C (p.Leu925=)
c.2631G>C (p.Leu877=)
c.2772G>C (p.Leu924=)
Xg.100341976C>TCA517696836PCDH19c.2634G>A (p.Leu878=)
c.2775G>A (p.Leu925=)
c.2631G>A (p.Leu877=)
c.2772G>A (p.Leu924=)
 dbSNP gnomAD v4
Xg.100341977A>CCA413999974PCDH19c.2633T>G (p.Leu878Arg)
c.2774T>G (p.Leu925Arg)
c.2630T>G (p.Leu877Arg)
c.2771T>G (p.Leu924Arg)
Xg.100341977A>GCA413999976PCDH19c.2633T>C (p.Leu878Pro)
c.2774T>C (p.Leu925Pro)
c.2630T>C (p.Leu877Pro)
c.2771T>C (p.Leu924Pro)
Xg.100341977A>TCA413999973PCDH19c.2633T>A (p.Leu878Gln)
c.2774T>A (p.Leu925Gln)
c.2630T>A (p.Leu877Gln)
c.2771T>A (p.Leu924Gln)
Xg.100341978G>ACA517696846PCDH19c.2632C>T (p.Leu878=)
c.2773C>T (p.Leu925=)
c.2629C>T (p.Leu877=)
c.2770C>T (p.Leu924=)
Xg.100341978G>CCA413999978PCDH19c.2632C>G (p.Leu878Val)
c.2773C>G (p.Leu925Val)
c.2629C>G (p.Leu877Val)
c.2770C>G (p.Leu924Val)
Xg.100341978G>TCA413999980PCDH19c.2632C>A (p.Leu878Met)
c.2773C>A (p.Leu925Met)
c.2629C>A (p.Leu877Met)
c.2770C>A (p.Leu924Met)
Xg.100341979G>ACA517696850PCDH19c.2631C>T (p.Ser877=)
c.2772C>T (p.Ser924=)
c.2628C>T (p.Ser876=)
c.2769C>T (p.Ser923=)
Xg.100341979G>CCA413999981PCDH19c.2631C>G (p.Ser877Arg)
c.2772C>G (p.Ser924Arg)
c.2628C>G (p.Ser876Arg)
c.2769C>G (p.Ser923Arg)
Xg.100341979G>TCA413999983PCDH19c.2631C>A (p.Ser877Arg)
c.2772C>A (p.Ser924Arg)
c.2628C>A (p.Ser876Arg)
c.2769C>A (p.Ser923Arg)
Xg.100341980C>ACA413999985PCDH19c.2630G>T (p.Ser877Ile)
c.2771G>T (p.Ser924Ile)
c.2627G>T (p.Ser876Ile)
c.2768G>T (p.Ser923Ile)
Xg.100341980C>GCA413999987PCDH19c.2630G>C (p.Ser877Thr)
c.2771G>C (p.Ser924Thr)
c.2627G>C (p.Ser876Thr)
c.2768G>C (p.Ser923Thr)
 gnomAD v4
Xg.100341980C>TCA413999988PCDH19c.2630G>A (p.Ser877Asn)
c.2771G>A (p.Ser924Asn)
c.2627G>A (p.Ser876Asn)
c.2768G>A (p.Ser923Asn)
 COSMIC COSMIC
Xg.100341981T>ACA413999989PCDH19c.2629A>T (p.Ser877Cys)
c.2770A>T (p.Ser924Cys)
c.2626A>T (p.Ser876Cys)
c.2767A>T (p.Ser923Cys)
 gnomAD v4
Xg.100341981T>CCA10468710PCDH19c.2629A>G (p.Ser877Gly)
c.2770A>G (p.Ser924Gly)
c.2626A>G (p.Ser876Gly)
c.2767A>G (p.Ser923Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100341981T>GCA413999992PCDH19c.2629A>C (p.Ser877Arg)
c.2770A>C (p.Ser924Arg)
c.2626A>C (p.Ser876Arg)
c.2767A>C (p.Ser923Arg)
Xg.100341981T=CA2447955682PCDH19c.2629A= (p.Ser877=)
c.2770A= (p.Ser924=)
c.2626A= (p.Ser876=)
c.2767A= (p.Ser923=)
Xg.100341982C>ACA517696860PCDH19c.2628G>T (p.Arg876=)
c.2769G>T (p.Arg923=)
c.2625G>T (p.Arg875=)
c.2766G>T (p.Arg922=)
Xg.100341982C>GCA517696861PCDH19c.2628G>C (p.Arg876=)
c.2769G>C (p.Arg923=)
c.2625G>C (p.Arg875=)
c.2766G>C (p.Arg922=)
Xg.100341982C>TCA517696863PCDH19c.2628G>A (p.Arg876=)
c.2769G>A (p.Arg923=)
c.2625G>A (p.Arg875=)
c.2766G>A (p.Arg922=)
Xg.100341983C>ACA413999994PCDH19c.2627G>T (p.Arg876Leu)
c.2768G>T (p.Arg923Leu)
c.2624G>T (p.Arg875Leu)
c.2765G>T (p.Arg922Leu)
Xg.100341983C=CA2447955683PCDH19c.2627G= (p.Arg876=)
c.2768G= (p.Arg923=)
c.2624G= (p.Arg875=)
c.2765G= (p.Arg922=)
Xg.100341983C>GCA413999995PCDH19c.2627G>C (p.Arg876Pro)
c.2768G>C (p.Arg923Pro)
c.2624G>C (p.Arg875Pro)
c.2765G>C (p.Arg922Pro)
Xg.100341983C>TCA10468711PCDH19c.2627G>A (p.Arg876Gln)
c.2768G>A (p.Arg923Gln)
c.2624G>A (p.Arg875Gln)
c.2765G>A (p.Arg922Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.100341984delCA2518684028PCDH19c.2626del (p.Arg876GlyfsTer13)
c.2767del (p.Arg923GlyfsTer13)
c.2623del (p.Arg875GlyfsTer13)
c.2764del (p.Arg922GlyfsTer13)
Xg.100341984G>ACA10468713PCDH19c.2626C>T (p.Arg876Trp)
c.2767C>T (p.Arg923Trp)
c.2623C>T (p.Arg875Trp)
c.2764C>T (p.Arg922Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100341984G>CCA413999998PCDH19c.2626C>G (p.Arg876Gly)
c.2767C>G (p.Arg923Gly)
c.2623C>G (p.Arg875Gly)
c.2764C>G (p.Arg922Gly)
Xg.100341984G=CA2447955684PCDH19c.2626C= (p.Arg876=)
c.2767C= (p.Arg923=)
c.2623C= (p.Arg875=)
c.2764C= (p.Arg922=)
Xg.100341984G>TCA10468712PCDH19c.2626C>A (p.Arg876=)
c.2767C>A (p.Arg923=)
c.2623C>A (p.Arg875=)
c.2764C>A (p.Arg922=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100341985C>ACA414000000PCDH19c.2625G>T (p.Gln875His)
c.2766G>T (p.Gln922His)
c.2622G>T (p.Gln874His)
c.2763G>T (p.Gln921His)
Xg.100341985C=CA2447955685PCDH19c.2625G= (p.Gln875=)
c.2766G= (p.Gln922=)
c.2622G= (p.Gln874=)
c.2763G= (p.Gln921=)
Xg.100341985C>GCA414000001PCDH19c.2625G>C (p.Gln875His)
c.2766G>C (p.Gln922His)
c.2622G>C (p.Gln874His)
c.2763G>C (p.Gln921His)
Xg.100341985C>TCA10468714PCDH19c.2625G>A (p.Gln875=)
c.2766G>A (p.Gln922=)
c.2622G>A (p.Gln874=)
c.2763G>A (p.Gln921=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100341986T>ACA414000002PCDH19c.2624A>T (p.Gln875Leu)
c.2765A>T (p.Gln922Leu)
c.2621A>T (p.Gln874Leu)
c.2762A>T (p.Gln921Leu)
Xg.100341986T>CCA414000003PCDH19c.2624A>G (p.Gln875Arg)
c.2765A>G (p.Gln922Arg)
c.2621A>G (p.Gln874Arg)
c.2762A>G (p.Gln921Arg)
Xg.100341986T>GCA414000004PCDH19c.2624A>C (p.Gln875Pro)
c.2765A>C (p.Gln922Pro)
c.2621A>C (p.Gln874Pro)
c.2762A>C (p.Gln921Pro)
Xg.100341987G>ACA414000005PCDH19c.2623C>T (p.Gln875Ter)
c.2764C>T (p.Gln922Ter)
c.2620C>T (p.Gln874Ter)
c.2761C>T (p.Gln921Ter)
 ClinVar dbSNP
Xg.100341987G>CCA414000006PCDH19c.2623C>G (p.Gln875Glu)
c.2764C>G (p.Gln922Glu)
c.2620C>G (p.Gln874Glu)
c.2761C>G (p.Gln921Glu)
Xg.100341987G>TCA414000008PCDH19c.2623C>A (p.Gln875Lys)
c.2764C>A (p.Gln922Lys)
c.2620C>A (p.Gln874Lys)
c.2761C>A (p.Gln921Lys)
 gnomAD v4
Xg.100341988G>ACA517696876PCDH19c.2622C>T (p.Val874=)
c.2763C>T (p.Val921=)
c.2619C>T (p.Val873=)
c.2760C>T (p.Val920=)
Xg.100341988G>CCA517696877PCDH19c.2622C>G (p.Val874=)
c.2763C>G (p.Val921=)
c.2619C>G (p.Val873=)
c.2760C>G (p.Val920=)
Xg.100341988G>TCA517696879PCDH19c.2622C>A (p.Val874=)
c.2763C>A (p.Val921=)
c.2619C>A (p.Val873=)
c.2760C>A (p.Val920=)
Xg.100341989A>CCA414000010PCDH19c.2621T>G (p.Val874Gly)
c.2762T>G (p.Val921Gly)
c.2618T>G (p.Val873Gly)
c.2759T>G (p.Val920Gly)
Xg.100341989A>GCA414000011PCDH19c.2621T>C (p.Val874Ala)
c.2762T>C (p.Val921Ala)
c.2618T>C (p.Val873Ala)
c.2759T>C (p.Val920Ala)
 gnomAD v4
Xg.100341989A>TCA414000013PCDH19c.2621T>A (p.Val874Asp)
c.2762T>A (p.Val921Asp)
c.2618T>A (p.Val873Asp)
c.2759T>A (p.Val920Asp)
Xg.100341990C>ACA414000015PCDH19c.2620G>T (p.Val874Phe)
c.2761G>T (p.Val921Phe)
c.2617G>T (p.Val873Phe)
c.2758G>T (p.Val920Phe)
Xg.100341990C=CA2447955686PCDH19c.2620G= (p.Val874=)
c.2761G= (p.Val921=)
c.2617G= (p.Val873=)
c.2758G= (p.Val920=)
Xg.100341990C>GCA414000017PCDH19c.2620G>C (p.Val874Leu)
c.2761G>C (p.Val921Leu)
c.2617G>C (p.Val873Leu)
c.2758G>C (p.Val920Leu)
Xg.100341990C>TCA333821205PCDH19c.2620G>A (p.Val874Ile)
c.2761G>A (p.Val921Ile)
c.2617G>A (p.Val873Ile)
c.2758G>A (p.Val920Ile)
 ClinVar dbSNP
Xg.100341991A>CCA414000019PCDH19c.2619T>G (p.Asp873Glu)
c.2760T>G (p.Asp920Glu)
c.2616T>G (p.Asp872Glu)
c.2757T>G (p.Asp919Glu)
Xg.100341991A>GCA517696894PCDH19c.2619T>C (p.Asp873=)
c.2760T>C (p.Asp920=)
c.2616T>C (p.Asp872=)
c.2757T>C (p.Asp919=)
 gnomAD v4
Xg.100341991A>TCA414000020PCDH19c.2619T>A (p.Asp873Glu)
c.2760T>A (p.Asp920Glu)
c.2616T>A (p.Asp872Glu)
c.2757T>A (p.Asp919Glu)
Xg.100341992T>ACA414000022PCDH19c.2618A>T (p.Asp873Val)
c.2759A>T (p.Asp920Val)
c.2615A>T (p.Asp872Val)
c.2756A>T (p.Asp919Val)
Xg.100341992T>CCA414000025PCDH19c.2618A>G (p.Asp873Gly)
c.2759A>G (p.Asp920Gly)
c.2615A>G (p.Asp872Gly)
c.2756A>G (p.Asp919Gly)
Xg.100341992T>GCA414000023PCDH19c.2618A>C (p.Asp873Ala)
c.2759A>C (p.Asp920Ala)
c.2615A>C (p.Asp872Ala)
c.2756A>C (p.Asp919Ala)
Xg.100341993C>ACA414000026PCDH19c.2617G>T (p.Asp873Tyr)
c.2758G>T (p.Asp920Tyr)
c.2614G>T (p.Asp872Tyr)
c.2755G>T (p.Asp919Tyr)
Xg.100341993C>GCA414000028PCDH19c.2617G>C (p.Asp873His)
c.2758G>C (p.Asp920His)
c.2614G>C (p.Asp872His)
c.2755G>C (p.Asp919His)
Xg.100341993C>TCA414000029PCDH19c.2617G>A (p.Asp873Asn)
c.2758G>A (p.Asp920Asn)
c.2614G>A (p.Asp872Asn)
c.2755G>A (p.Asp919Asn)
 COSMIC COSMIC
Xg.100341994A>CCA414000030PCDH19c.2616T>G (p.His872Gln)
c.2757T>G (p.His919Gln)
c.2613T>G (p.His871Gln)
c.2754T>G (p.His918Gln)
 COSMIC COSMIC
Xg.100341994A>GCA517696907PCDH19c.2616T>C (p.His872=)
c.2757T>C (p.His919=)
c.2613T>C (p.His871=)
c.2754T>C (p.His918=)
Xg.100341994A>TCA414000032PCDH19c.2616T>A (p.His872Gln)
c.2757T>A (p.His919Gln)
c.2613T>A (p.His871Gln)
c.2754T>A (p.His918Gln)
Xg.100341995T>ACA414000034PCDH19c.2615A>T (p.His872Leu)
c.2756A>T (p.His919Leu)
c.2612A>T (p.His871Leu)
c.2753A>T (p.His918Leu)
Xg.100341995T>CCA414000036PCDH19c.2615A>G (p.His872Arg)
c.2756A>G (p.His919Arg)
c.2612A>G (p.His871Arg)
c.2753A>G (p.His918Arg)
Xg.100341995T>GCA414000037PCDH19c.2615A>C (p.His872Pro)
c.2756A>C (p.His919Pro)
c.2612A>C (p.His871Pro)
c.2753A>C (p.His918Pro)
Xg.100341996G>ACA414000039PCDH19c.2614C>T (p.His872Tyr)
c.2755C>T (p.His919Tyr)
c.2611C>T (p.His871Tyr)
c.2752C>T (p.His918Tyr)
Xg.100341996G>CCA414000041PCDH19c.2614C>G (p.His872Asp)
c.2755C>G (p.His919Asp)
c.2611C>G (p.His871Asp)
c.2752C>G (p.His918Asp)
Xg.100341996G>TCA414000042PCDH19c.2614C>A (p.His872Asn)
c.2755C>A (p.His919Asn)
c.2611C>A (p.His871Asn)
c.2752C>A (p.His918Asn)
Xg.100341997C>ACA414000045PCDH19c.2613G>T (p.Glu871Asp)
c.2754G>T (p.Glu918Asp)
c.2610G>T (p.Glu870Asp)
c.2751G>T (p.Glu917Asp)
 ClinVar dbSNP
Xg.100341997C=CA2447955687PCDH19c.2613G= (p.Glu871=)
c.2754G= (p.Glu918=)
c.2610G= (p.Glu870=)
c.2751G= (p.Glu917=)
Xg.100341997C>GCA414000044PCDH19c.2613G>C (p.Glu871Asp)
c.2754G>C (p.Glu918Asp)
c.2610G>C (p.Glu870Asp)
c.2751G>C (p.Glu917Asp)
Xg.100341997C>TCA517696917PCDH19c.2613G>A (p.Glu871=)
c.2754G>A (p.Glu918=)
c.2610G>A (p.Glu870=)
c.2751G>A (p.Glu917=)
Xg.100341998T>ACA414000046PCDH19c.2612A>T (p.Glu871Val)
c.2753A>T (p.Glu918Val)
c.2609A>T (p.Glu870Val)
c.2750A>T (p.Glu917Val)
Xg.100341998T>CCA414000047PCDH19c.2612A>G (p.Glu871Gly)
c.2753A>G (p.Glu918Gly)
c.2609A>G (p.Glu870Gly)
c.2750A>G (p.Glu917Gly)
Xg.100341998T>GCA414000049PCDH19c.2612A>C (p.Glu871Ala)
c.2753A>C (p.Glu918Ala)
c.2609A>C (p.Glu870Ala)
c.2750A>C (p.Glu917Ala)
Xg.100341999C>ACA414000051PCDH19c.2611G>T (p.Glu871Ter)
c.2752G>T (p.Glu918Ter)
c.2608G>T (p.Glu870Ter)
c.2749G>T (p.Glu917Ter)
Xg.100341999C>GCA414000053PCDH19c.2611G>C (p.Glu871Gln)
c.2752G>C (p.Glu918Gln)
c.2608G>C (p.Glu870Gln)
c.2749G>C (p.Glu917Gln)
Xg.100341999C>TCA414000054PCDH19c.2611G>A (p.Glu871Lys)
c.2752G>A (p.Glu918Lys)
c.2608G>A (p.Glu870Lys)
c.2749G>A (p.Glu917Lys)
 ClinVar dbSNP
Xg.100342000A>CCA414000056PCDH19c.2610T>G (p.Ser870Arg)
c.2751T>G (p.Ser917Arg)
c.2607T>G (p.Ser869Arg)
c.2748T>G (p.Ser916Arg)
 gnomAD v4
Xg.100342000A>GCA517696932PCDH19c.2610T>C (p.Ser870=)
c.2751T>C (p.Ser917=)
c.2607T>C (p.Ser869=)
c.2748T>C (p.Ser916=)
Xg.100342000A>TCA414000058PCDH19c.2610T>A (p.Ser870Arg)
c.2751T>A (p.Ser917Arg)
c.2607T>A (p.Ser869Arg)
c.2748T>A (p.Ser916Arg)
Xg.100342001C>ACA414000060PCDH19c.2609G>T (p.Ser870Ile)
c.2750G>T (p.Ser917Ile)
c.2606G>T (p.Ser869Ile)
c.2747G>T (p.Ser916Ile)
Xg.100342001C>GCA414000061PCDH19c.2609G>C (p.Ser870Thr)
c.2750G>C (p.Ser917Thr)
c.2606G>C (p.Ser869Thr)
c.2747G>C (p.Ser916Thr)
Xg.100342001C>TCA414000062PCDH19c.2609G>A (p.Ser870Asn)
c.2750G>A (p.Ser917Asn)
c.2606G>A (p.Ser869Asn)
c.2747G>A (p.Ser916Asn)
Xg.100342002T>ACA414000066PCDH19c.2608A>T (p.Ser870Cys)
c.2749A>T (p.Ser917Cys)
c.2605A>T (p.Ser869Cys)
c.2746A>T (p.Ser916Cys)
Xg.100342002T>CCA414000068PCDH19c.2608A>G (p.Ser870Gly)
c.2749A>G (p.Ser917Gly)
c.2605A>G (p.Ser869Gly)
c.2746A>G (p.Ser916Gly)
Xg.100342002T>GCA414000064PCDH19c.2608A>C (p.Ser870Arg)
c.2749A>C (p.Ser917Arg)
c.2605A>C (p.Ser869Arg)
c.2746A>C (p.Ser916Arg)
Xg.100342003G>ACA517696942PCDH19c.2607C>T (p.Asp869=)
c.2748C>T (p.Asp916=)
c.2604C>T (p.Asp868=)
c.2745C>T (p.Asp915=)
Xg.100342003G>CCA414000069PCDH19c.2607C>G (p.Asp869Glu)
c.2748C>G (p.Asp916Glu)
c.2604C>G (p.Asp868Glu)
c.2745C>G (p.Asp915Glu)
Xg.100342003G>TCA414000071PCDH19c.2607C>A (p.Asp869Glu)
c.2748C>A (p.Asp916Glu)
c.2604C>A (p.Asp868Glu)
c.2745C>A (p.Asp915Glu)
Xg.100342004T>ACA414000073PCDH19c.2606A>T (p.Asp869Val)
c.2747A>T (p.Asp916Val)
c.2603A>T (p.Asp868Val)
c.2744A>T (p.Asp915Val)
Xg.100342004T>CCA414000075PCDH19c.2606A>G (p.Asp869Gly)
c.2747A>G (p.Asp916Gly)
c.2603A>G (p.Asp868Gly)
c.2744A>G (p.Asp915Gly)
Xg.100342004T>GCA414000076PCDH19c.2606A>C (p.Asp869Ala)
c.2747A>C (p.Asp916Ala)
c.2603A>C (p.Asp868Ala)
c.2744A>C (p.Asp915Ala)
Xg.100342005C>ACA414000081PCDH19c.2605G>T (p.Asp869Tyr)
c.2746G>T (p.Asp916Tyr)
c.2602G>T (p.Asp868Tyr)
c.2743G>T (p.Asp915Tyr)
Xg.100342005C>GCA414000080PCDH19c.2605G>C (p.Asp869His)
c.2746G>C (p.Asp916His)
c.2602G>C (p.Asp868His)
c.2743G>C (p.Asp915His)
Xg.100342005C>TCA414000078PCDH19c.2605G>A (p.Asp869Asn)
c.2746G>A (p.Asp916Asn)
c.2602G>A (p.Asp868Asn)
c.2743G>A (p.Asp915Asn)
Xg.100342006A>CCA517696949PCDH19c.2604T>G (p.Thr868=)
c.2745T>G (p.Thr915=)
c.2601T>G (p.Thr867=)
c.2742T>G (p.Thr914=)
Xg.100342006A>GCA517696951PCDH19c.2604T>C (p.Thr868=)
c.2745T>C (p.Thr915=)
c.2601T>C (p.Thr867=)
c.2742T>C (p.Thr914=)
Xg.100342006A>TCA517696953PCDH19c.2604T>A (p.Thr868=)
c.2745T>A (p.Thr915=)
c.2601T>A (p.Thr867=)
c.2742T>A (p.Thr914=)
Xg.100342007G>ACA414000083PCDH19c.2603C>T (p.Thr868Ile)
c.2744C>T (p.Thr915Ile)
c.2600C>T (p.Thr867Ile)
c.2741C>T (p.Thr914Ile)
Xg.100342007G>CCA414000085PCDH19c.2603C>G (p.Thr868Ser)
c.2744C>G (p.Thr915Ser)
c.2600C>G (p.Thr867Ser)
c.2741C>G (p.Thr914Ser)
Xg.100342007G>TCA414000087PCDH19c.2603C>A (p.Thr868Asn)
c.2744C>A (p.Thr915Asn)
c.2600C>A (p.Thr867Asn)
c.2741C>A (p.Thr914Asn)
Xg.100342008T>ACA414000088PCDH19c.2602A>T (p.Thr868Ser)
c.2743A>T (p.Thr915Ser)
c.2599A>T (p.Thr867Ser)
c.2740A>T (p.Thr914Ser)
Xg.100342008T>CCA414000089PCDH19c.2602A>G (p.Thr868Ala)
c.2743A>G (p.Thr915Ala)
c.2599A>G (p.Thr867Ala)
c.2740A>G (p.Thr914Ala)
Xg.100342008T>GCA414000091PCDH19c.2602A>C (p.Thr868Pro)
c.2743A>C (p.Thr915Pro)
c.2599A>C (p.Thr867Pro)
c.2740A>C (p.Thr914Pro)
Xg.100342009T>ACA414000093PCDH19c.2601A>T (p.Gln867His)
c.2742A>T (p.Gln914His)
c.2598A>T (p.Gln866His)
c.2739A>T (p.Gln913His)
Xg.100342009T>CCA172950PCDH19c.2601A>G (p.Gln867=)
c.2742A>G (p.Gln914=)
c.2598A>G (p.Gln866=)
c.2739A>G (p.Gln913=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.100342009T>GCA414000095PCDH19c.2601A>C (p.Gln867His)
c.2742A>C (p.Gln914His)
c.2598A>C (p.Gln866His)
c.2739A>C (p.Gln913His)
Xg.100342009T=CA2447955688PCDH19c.2601A= (p.Gln867=)
c.2742A= (p.Gln914=)
c.2598A= (p.Gln866=)
c.2739A= (p.Gln913=)

Number of alleles fetched