Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.100341881C>ACA2694250709PCDH19c.2707+22G>T (n.2707+22G>T)
c.2848+22G>T (n.2848+22G>T)
c.2704+22G>T (n.2704+22G>T)
c.2845+22G>T (n.2845+22G>T)
 gnomAD v4
Xg.100341882T>ACA2579659191PCDH19c.2707+21A>T (n.2707+21A>T)
c.2848+21A>T (n.2848+21A>T)
c.2704+21A>T (n.2704+21A>T)
c.2845+21A>T (n.2845+21A>T)
 gnomAD v4
Xg.100341882T>CCA2694250710PCDH19c.2707+21A>G (n.2707+21A>G)
c.2848+21A>G (n.2848+21A>G)
c.2704+21A>G (n.2704+21A>G)
c.2845+21A>G (n.2845+21A>G)
 gnomAD v4
Xg.100341883delCA2579659192PCDH19c.2707+21del (n.2707+21del)
c.2848+21del (n.2848+21del)
c.2704+21del (n.2704+21del)
c.2845+21del (n.2845+21del)
Xg.100341883T>ACA2694250711PCDH19c.2707+20A>T (n.2707+20A>T)
c.2848+20A>T (n.2848+20A>T)
c.2704+20A>T (n.2704+20A>T)
c.2845+20A>T (n.2845+20A>T)
 gnomAD v4
Xg.100341885C>ACA2694250712PCDH19c.2707+18G>T (n.2707+18G>T)
c.2848+18G>T (n.2848+18G>T)
c.2704+18G>T (n.2704+18G>T)
c.2845+18G>T (n.2845+18G>T)
 gnomAD v4
Xg.100341886A=CA2447955656PCDH19c.2707+17T= (n.2707+17T=)
c.2848+17T= (n.2848+17T=)
c.2704+17T= (n.2704+17T=)
c.2845+17T= (n.2845+17T=)
Xg.100341886A>GCA869216687PCDH19c.2707+17T>C (n.2707+17T>C)
c.2848+17T>C (n.2848+17T>C)
c.2704+17T>C (n.2704+17T>C)
c.2845+17T>C (n.2845+17T>C)
 dbSNP gnomAD v4
Xg.100341886A>TCA2543113600PCDH19c.2707+17T>A (n.2707+17T>A)
c.2848+17T>A (n.2848+17T>A)
c.2704+17T>A (n.2704+17T>A)
c.2845+17T>A (n.2845+17T>A)
 gnomAD v4
Xg.100341887T>ACA2694250713PCDH19c.2707+16A>T (n.2707+16A>T)
c.2848+16A>T (n.2848+16A>T)
c.2704+16A>T (n.2704+16A>T)
c.2845+16A>T (n.2845+16A>T)
 gnomAD v4
Xg.100341887T>CCA2694250714PCDH19c.2707+16A>G (n.2707+16A>G)
c.2848+16A>G (n.2848+16A>G)
c.2704+16A>G (n.2704+16A>G)
c.2845+16A>G (n.2845+16A>G)
 gnomAD v4
Xg.100341888C>ACA2694250715PCDH19c.2707+15G>T (n.2707+15G>T)
c.2848+15G>T (n.2848+15G>T)
c.2704+15G>T (n.2704+15G>T)
c.2845+15G>T (n.2845+15G>T)
 gnomAD v4
Xg.100341889C>TCA2526477481PCDH19c.2707+14G>A (n.2707+14G>A)
c.2848+14G>A (n.2848+14G>A)
c.2704+14G>A (n.2704+14G>A)
c.2845+14G>A (n.2845+14G>A)
Xg.100341892C>ACA2694250716PCDH19c.2707+11G>T (n.2707+11G>T)
c.2848+11G>T (n.2848+11G>T)
c.2704+11G>T (n.2704+11G>T)
c.2845+11G>T (n.2845+11G>T)
 gnomAD v4
Xg.100341893C>ACA2694250717PCDH19c.2707+10G>T (n.2707+10G>T)
c.2848+10G>T (n.2848+10G>T)
c.2704+10G>T (n.2704+10G>T)
c.2845+10G>T (n.2845+10G>T)
 gnomAD v4
Xg.100341895G>ACA2579659193PCDH19c.2707+8C>T (n.2707+8C>T)
c.2848+8C>T (n.2848+8C>T)
c.2704+8C>T (n.2704+8C>T)
c.2845+8C>T (n.2845+8C>T)
Xg.100341896T>CCA2447955658PCDH19c.2707+7A>G (n.2707+7A>G)
c.2848+7A>G (n.2848+7A>G)
c.2704+7A>G (n.2704+7A>G)
c.2845+7A>G (n.2845+7A>G)
 ClinVar dbSNP gnomAD v4
Xg.100341896T=CA2447955657PCDH19c.2707+7A= (n.2707+7A=)
c.2848+7A= (n.2848+7A=)
c.2704+7A= (n.2704+7A=)
c.2845+7A= (n.2845+7A=)
Xg.100341897C>ACA2694250718PCDH19c.2707+6G>T (n.2707+6G>T)
c.2848+6G>T (n.2848+6G>T)
c.2704+6G>T (n.2704+6G>T)
c.2845+6G>T (n.2845+6G>T)
 gnomAD v4
Xg.100341899T>ACA2694250719PCDH19c.2707+4A>T (n.2707+4A>T)
c.2848+4A>T (n.2848+4A>T)
c.2704+4A>T (n.2704+4A>T)
c.2845+4A>T (n.2845+4A>T)
 gnomAD v4
Xg.100341901A>CCA413999685PCDH19c.2707+2T>G (n.2707+2T>G)
c.2848+2T>G (n.2848+2T>G)
c.2704+2T>G (n.2704+2T>G)
c.2845+2T>G (n.2845+2T>G)
Xg.100341901A>GCA413999688PCDH19c.2707+2T>C (n.2707+2T>C)
c.2848+2T>C (n.2848+2T>C)
c.2704+2T>C (n.2704+2T>C)
c.2845+2T>C (n.2845+2T>C)
Xg.100341901A>TCA413999690PCDH19c.2707+2T>A (n.2707+2T>A)
c.2848+2T>A (n.2848+2T>A)
c.2704+2T>A (n.2704+2T>A)
c.2845+2T>A (n.2845+2T>A)
Xg.100341902C>ACA413999692PCDH19c.2707+1G>T (n.2707+1G>T)
c.2848+1G>T (n.2848+1G>T)
c.2704+1G>T (n.2704+1G>T)
c.2845+1G>T (n.2845+1G>T)
 gnomAD v4
Xg.100341902C>GCA413999693PCDH19c.2707+1G>C (n.2707+1G>C)
c.2848+1G>C (n.2848+1G>C)
c.2704+1G>C (n.2704+1G>C)
c.2845+1G>C (n.2845+1G>C)
Xg.100341902C>TCA413999695PCDH19c.2707+1G>A (n.2707+1G>A)
c.2848+1G>A (n.2848+1G>A)
c.2704+1G>A (n.2704+1G>A)
c.2845+1G>A (n.2845+1G>A)
 ClinVar
Xg.100341903C>ACA413999698PCDH19c.2707G>T (p.Asp903Tyr)
c.2848G>T (p.Asp950Tyr)
c.2704G>T (p.Asp902Tyr)
c.2845G>T (p.Asp949Tyr)
Xg.100341903C>GCA413999697PCDH19c.2707G>C (p.Asp903His)
c.2848G>C (p.Asp950His)
c.2704G>C (p.Asp902His)
c.2845G>C (p.Asp949His)
Xg.100341903C>TCA413999696PCDH19c.2707G>A (p.Asp903Asn)
c.2848G>A (p.Asp950Asn)
c.2704G>A (p.Asp902Asn)
c.2845G>A (p.Asp949Asn)
Xg.100341904A>CCA413999700PCDH19c.2706T>G (p.His902Gln)
c.2847T>G (p.His949Gln)
c.2703T>G (p.His901Gln)
c.2844T>G (p.His948Gln)
Xg.100341904A>GCA517696539PCDH19c.2706T>C (p.His902=)
c.2847T>C (p.His949=)
c.2703T>C (p.His901=)
c.2844T>C (p.His948=)
Xg.100341904A>TCA413999702PCDH19c.2706T>A (p.His902Gln)
c.2847T>A (p.His949Gln)
c.2703T>A (p.His901Gln)
c.2844T>A (p.His948Gln)
Xg.100341905T>ACA413999703PCDH19c.2705A>T (p.His902Leu)
c.2846A>T (p.His949Leu)
c.2702A>T (p.His901Leu)
c.2843A>T (p.His948Leu)
 gnomAD v4 COSMIC COSMIC
Xg.100341905T>CCA413999705PCDH19c.2705A>G (p.His902Arg)
c.2846A>G (p.His949Arg)
c.2702A>G (p.His901Arg)
c.2843A>G (p.His948Arg)
 dbSNP
Xg.100341905T>GCA413999707PCDH19c.2705A>C (p.His902Pro)
c.2846A>C (p.His949Pro)
c.2702A>C (p.His901Pro)
c.2843A>C (p.His948Pro)
 ClinVar dbSNP
Xg.100341905T=CA2447955659PCDH19c.2705A= (p.His902=)
c.2846A= (p.His949=)
c.2702A= (p.His901=)
c.2843A= (p.His948=)
Xg.100341906G>ACA413999708PCDH19c.2704C>T (p.His902Tyr)
c.2845C>T (p.His949Tyr)
c.2701C>T (p.His901Tyr)
c.2842C>T (p.His948Tyr)
Xg.100341906G>CCA413999709PCDH19c.2704C>G (p.His902Asp)
c.2845C>G (p.His949Asp)
c.2701C>G (p.His901Asp)
c.2842C>G (p.His948Asp)
Xg.100341906G>TCA413999711PCDH19c.2704C>A (p.His902Asn)
c.2845C>A (p.His949Asn)
c.2701C>A (p.His901Asn)
c.2842C>A (p.His948Asn)
 gnomAD v4
Xg.100341907A>CCA413999713PCDH19c.2703T>G (p.Asp901Glu)
c.2844T>G (p.Asp948Glu)
c.2700T>G (p.Asp900Glu)
c.2841T>G (p.Asp947Glu)
Xg.100341907A>GCA517696552PCDH19c.2703T>C (p.Asp901=)
c.2844T>C (p.Asp948=)
c.2700T>C (p.Asp900=)
c.2841T>C (p.Asp947=)
Xg.100341907A>TCA413999715PCDH19c.2703T>A (p.Asp901Glu)
c.2844T>A (p.Asp948Glu)
c.2700T>A (p.Asp900Glu)
c.2841T>A (p.Asp947Glu)
Xg.100341908T>ACA413999716PCDH19c.2702A>T (p.Asp901Val)
c.2843A>T (p.Asp948Val)
c.2699A>T (p.Asp900Val)
c.2840A>T (p.Asp947Val)
Xg.100341908T>CCA413999717PCDH19c.2702A>G (p.Asp901Gly)
c.2843A>G (p.Asp948Gly)
c.2699A>G (p.Asp900Gly)
c.2840A>G (p.Asp947Gly)
Xg.100341908T>GCA413999719PCDH19c.2702A>C (p.Asp901Ala)
c.2843A>C (p.Asp948Ala)
c.2699A>C (p.Asp900Ala)
c.2840A>C (p.Asp947Ala)
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=)

Number of alleles fetched