Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
Xg.100342010T>ACA414000097PCDH19c.2600A>T (p.Gln867Leu)
c.2741A>T (p.Gln914Leu)
c.2597A>T (p.Gln866Leu)
c.2738A>T (p.Gln913Leu)
Xg.100342010T>CCA414000098PCDH19c.2600A>G (p.Gln867Arg)
c.2741A>G (p.Gln914Arg)
c.2597A>G (p.Gln866Arg)
c.2738A>G (p.Gln913Arg)
Xg.100342010T>GCA414000100PCDH19c.2600A>C (p.Gln867Pro)
c.2741A>C (p.Gln914Pro)
c.2597A>C (p.Gln866Pro)
c.2738A>C (p.Gln913Pro)
Xg.100342011G>ACA414000102PCDH19c.2599C>T (p.Gln867Ter)
c.2740C>T (p.Gln914Ter)
c.2596C>T (p.Gln866Ter)
c.2737C>T (p.Gln913Ter)
 ClinVar dbSNP
Xg.100342011G>CCA414000104PCDH19c.2599C>G (p.Gln867Glu)
c.2740C>G (p.Gln914Glu)
c.2596C>G (p.Gln866Glu)
c.2737C>G (p.Gln913Glu)
Xg.100342011G=CA2447955689PCDH19c.2599C= (p.Gln867=)
c.2740C= (p.Gln914=)
c.2596C= (p.Gln866=)
c.2737C= (p.Gln913=)
Xg.100342011G>TCA414000105PCDH19c.2599C>A (p.Gln867Lys)
c.2740C>A (p.Gln914Lys)
c.2596C>A (p.Gln866Lys)
c.2737C>A (p.Gln913Lys)
Xg.100342012G>ACA517696974PCDH19c.2598C>T (p.Asp866=)
c.2739C>T (p.Asp913=)
c.2595C>T (p.Asp865=)
c.2736C>T (p.Asp912=)
Xg.100342012G>CCA414000107PCDH19c.2598C>G (p.Asp866Glu)
c.2739C>G (p.Asp913Glu)
c.2595C>G (p.Asp865Glu)
c.2736C>G (p.Asp912Glu)
Xg.100342012G>TCA414000109PCDH19c.2598C>A (p.Asp866Glu)
c.2739C>A (p.Asp913Glu)
c.2595C>A (p.Asp865Glu)
c.2736C>A (p.Asp912Glu)
Xg.100342013T>ACA414000111PCDH19c.2597A>T (p.Asp866Val)
c.2738A>T (p.Asp913Val)
c.2594A>T (p.Asp865Val)
c.2735A>T (p.Asp912Val)
Xg.100342013T>CCA414000112PCDH19c.2597A>G (p.Asp866Gly)
c.2738A>G (p.Asp913Gly)
c.2594A>G (p.Asp865Gly)
c.2735A>G (p.Asp912Gly)
Xg.100342013T>GCA414000113PCDH19c.2597A>C (p.Asp866Ala)
c.2738A>C (p.Asp913Ala)
c.2594A>C (p.Asp865Ala)
c.2735A>C (p.Asp912Ala)
Xg.100342014C>ACA414000116PCDH19c.2596G>T (p.Asp866Tyr)
c.2737G>T (p.Asp913Tyr)
c.2593G>T (p.Asp865Tyr)
c.2734G>T (p.Asp912Tyr)
Xg.100342014C>GCA414000115PCDH19c.2596G>C (p.Asp866His)
c.2737G>C (p.Asp913His)
c.2593G>C (p.Asp865His)
c.2734G>C (p.Asp912His)
Xg.100342014C>TCA414000114PCDH19c.2596G>A (p.Asp866Asn)
c.2737G>A (p.Asp913Asn)
c.2593G>A (p.Asp865Asn)
c.2734G>A (p.Asp912Asn)
 gnomAD v4
Xg.100342015A>CCA414000118PCDH19c.2595T>G (p.Ser865Arg)
c.2736T>G (p.Ser912Arg)
c.2592T>G (p.Ser864Arg)
c.2733T>G (p.Ser911Arg)
Xg.100342015A>GCA517696988PCDH19c.2595T>C (p.Ser865=)
c.2736T>C (p.Ser912=)
c.2592T>C (p.Ser864=)
c.2733T>C (p.Ser911=)
Xg.100342015A>TCA414000119PCDH19c.2595T>A (p.Ser865Arg)
c.2736T>A (p.Ser912Arg)
c.2592T>A (p.Ser864Arg)
c.2733T>A (p.Ser911Arg)
Xg.100342016C>ACA414000120PCDH19c.2594G>T (p.Ser865Ile)
c.2735G>T (p.Ser912Ile)
c.2591G>T (p.Ser864Ile)
c.2732G>T (p.Ser911Ile)
Xg.100342016C=CA2447955690PCDH19c.2594G= (p.Ser865=)
c.2735G= (p.Ser912=)
c.2591G= (p.Ser864=)
c.2732G= (p.Ser911=)
Xg.100342016C>GCA414000122PCDH19c.2594G>C (p.Ser865Thr)
c.2735G>C (p.Ser912Thr)
c.2591G>C (p.Ser864Thr)
c.2732G>C (p.Ser911Thr)
Xg.100342016C>TCA10468715PCDH19c.2594G>A (p.Ser865Asn)
c.2735G>A (p.Ser912Asn)
c.2591G>A (p.Ser864Asn)
c.2732G>A (p.Ser911Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100342017T>ACA414000124PCDH19c.2593A>T (p.Ser865Cys)
c.2734A>T (p.Ser912Cys)
c.2590A>T (p.Ser864Cys)
c.2731A>T (p.Ser911Cys)
Xg.100342017T>CCA414000126PCDH19c.2593A>G (p.Ser865Gly)
c.2734A>G (p.Ser912Gly)
c.2590A>G (p.Ser864Gly)
c.2731A>G (p.Ser911Gly)
Xg.100342017T>GCA414000127PCDH19c.2593A>C (p.Ser865Arg)
c.2734A>C (p.Ser912Arg)
c.2590A>C (p.Ser864Arg)
c.2731A>C (p.Ser911Arg)
Xg.100342018C>ACA333821206PCDH19c.2592G>T (p.Glu864Asp)
c.2733G>T (p.Glu911Asp)
c.2589G>T (p.Glu863Asp)
c.2730G>T (p.Glu910Asp)
 dbSNP gnomAD v4
Xg.100342018C=CA2447955691PCDH19c.2592G= (p.Glu864=)
c.2733G= (p.Glu911=)
c.2589G= (p.Glu863=)
c.2730G= (p.Glu910=)
Xg.100342018C>GCA414000130PCDH19c.2592G>C (p.Glu864Asp)
c.2733G>C (p.Glu911Asp)
c.2589G>C (p.Glu863Asp)
c.2730G>C (p.Glu910Asp)
Xg.100342018C>TCA517697012PCDH19c.2592G>A (p.Glu864=)
c.2733G>A (p.Glu911=)
c.2589G>A (p.Glu863=)
c.2730G>A (p.Glu910=)
 dbSNP gnomAD v2 gnomAD v4
Xg.100342019T>ACA414000131PCDH19c.2591A>T (p.Glu864Val)
c.2732A>T (p.Glu911Val)
c.2588A>T (p.Glu863Val)
c.2729A>T (p.Glu910Val)
Xg.100342019T>CCA414000133PCDH19c.2591A>G (p.Glu864Gly)
c.2732A>G (p.Glu911Gly)
c.2588A>G (p.Glu863Gly)
c.2729A>G (p.Glu910Gly)
Xg.100342019T>GCA414000135PCDH19c.2591A>C (p.Glu864Ala)
c.2732A>C (p.Glu911Ala)
c.2588A>C (p.Glu863Ala)
c.2729A>C (p.Glu910Ala)
Xg.100342020C>ACA414000137PCDH19c.2590G>T (p.Glu864Ter)
c.2731G>T (p.Glu911Ter)
c.2587G>T (p.Glu863Ter)
c.2728G>T (p.Glu910Ter)
 COSMIC COSMIC
Xg.100342020C>GCA414000138PCDH19c.2590G>C (p.Glu864Gln)
c.2731G>C (p.Glu911Gln)
c.2587G>C (p.Glu863Gln)
c.2728G>C (p.Glu910Gln)
Xg.100342020C>TCA414000139PCDH19c.2590G>A (p.Glu864Lys)
c.2731G>A (p.Glu911Lys)
c.2587G>A (p.Glu863Lys)
c.2728G>A (p.Glu910Lys)
Xg.100342021C>ACA414000142PCDH19c.2589G>T (p.Glu863Asp)
c.2730G>T (p.Glu910Asp)
c.2586G>T (p.Glu862Asp)
c.2727G>T (p.Glu909Asp)
Xg.100342021C=CA2447955692PCDH19c.2589G= (p.Glu863=)
c.2730G= (p.Glu910=)
c.2586G= (p.Glu862=)
c.2727G= (p.Glu909=)
Xg.100342021C>GCA414000143PCDH19c.2589G>C (p.Glu863Asp)
c.2730G>C (p.Glu910Asp)
c.2586G>C (p.Glu862Asp)
c.2727G>C (p.Glu909Asp)
 ClinVar
Xg.100342021C>TCA517697020PCDH19c.2589G>A (p.Glu863=)
c.2730G>A (p.Glu910=)
c.2586G>A (p.Glu862=)
c.2727G>A (p.Glu909=)
 dbSNP gnomAD v2 gnomAD v4
Xg.100342022T>ACA414000145PCDH19c.2588A>T (p.Glu863Val)
c.2729A>T (p.Glu910Val)
c.2585A>T (p.Glu862Val)
c.2726A>T (p.Glu909Val)
Xg.100342022T>CCA414000147PCDH19c.2588A>G (p.Glu863Gly)
c.2729A>G (p.Glu910Gly)
c.2585A>G (p.Glu862Gly)
c.2726A>G (p.Glu909Gly)
Xg.100342022T>GCA414000148PCDH19c.2588A>C (p.Glu863Ala)
c.2729A>C (p.Glu910Ala)
c.2585A>C (p.Glu862Ala)
c.2726A>C (p.Glu909Ala)
Xg.100342023C>ACA414000150PCDH19c.2587G>T (p.Glu863Ter)
c.2728G>T (p.Glu910Ter)
c.2584G>T (p.Glu862Ter)
c.2725G>T (p.Glu909Ter)
 ClinVar dbSNP
Xg.100342023C>GCA414000151PCDH19c.2587G>C (p.Glu863Gln)
c.2728G>C (p.Glu910Gln)
c.2584G>C (p.Glu862Gln)
c.2725G>C (p.Glu909Gln)
Xg.100342023C>TCA414000153PCDH19c.2587G>A (p.Glu863Lys)
c.2728G>A (p.Glu910Lys)
c.2584G>A (p.Glu862Lys)
c.2725G>A (p.Glu909Lys)
 COSMIC COSMIC
Xg.100342024A>CCA414000155PCDH19c.2586T>G (p.His862Gln)
c.2727T>G (p.His909Gln)
c.2583T>G (p.His861Gln)
c.2724T>G (p.His908Gln)
Xg.100342024A>GCA517697030PCDH19c.2586T>C (p.His862=)
c.2727T>C (p.His909=)
c.2583T>C (p.His861=)
c.2724T>C (p.His908=)
Xg.100342024A>TCA414000157PCDH19c.2586T>A (p.His862Gln)
c.2727T>A (p.His909Gln)
c.2583T>A (p.His861Gln)
c.2724T>A (p.His908Gln)
Xg.100342025T>ACA414000158PCDH19c.2585A>T (p.His862Leu)
c.2726A>T (p.His909Leu)
c.2582A>T (p.His861Leu)
c.2723A>T (p.His908Leu)
Xg.100342025T>CCA10468716PCDH19c.2585A>G (p.His862Arg)
c.2726A>G (p.His909Arg)
c.2582A>G (p.His861Arg)
c.2723A>G (p.His908Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100342025T>GCA414000161PCDH19c.2585A>C (p.His862Pro)
c.2726A>C (p.His909Pro)
c.2582A>C (p.His861Pro)
c.2723A>C (p.His908Pro)
Xg.100342025T=CA2447955693PCDH19c.2585A= (p.His862=)
c.2726A= (p.His909=)
c.2582A= (p.His861=)
c.2723A= (p.His908=)
Xg.100342026G>ACA414000165PCDH19c.2584C>T (p.His862Tyr)
c.2725C>T (p.His909Tyr)
c.2581C>T (p.His861Tyr)
c.2722C>T (p.His908Tyr)
Xg.100342026G>CCA414000164PCDH19c.2584C>G (p.His862Asp)
c.2725C>G (p.His909Asp)
c.2581C>G (p.His861Asp)
c.2722C>G (p.His908Asp)
Xg.100342026G>TCA414000162PCDH19c.2584C>A (p.His862Asn)
c.2725C>A (p.His909Asn)
c.2581C>A (p.His861Asn)
c.2722C>A (p.His908Asn)
Xg.100342027T>ACA517697049PCDH19c.2583A>T (p.Gly861=)
c.2724A>T (p.Gly908=)
c.2580A>T (p.Gly860=)
c.2721A>T (p.Gly907=)
Xg.100342027T>CCA517697050PCDH19c.2583A>G (p.Gly861=)
c.2724A>G (p.Gly908=)
c.2580A>G (p.Gly860=)
c.2721A>G (p.Gly907=)
Xg.100342027T>GCA517697051PCDH19c.2583A>C (p.Gly861=)
c.2724A>C (p.Gly908=)
c.2580A>C (p.Gly860=)
c.2721A>C (p.Gly907=)
Xg.100342028C>ACA414000168PCDH19c.2582G>T (p.Gly861Val)
c.2723G>T (p.Gly908Val)
c.2579G>T (p.Gly860Val)
c.2720G>T (p.Gly907Val)
Xg.100342028C>GCA414000169PCDH19c.2582G>C (p.Gly861Ala)
c.2723G>C (p.Gly908Ala)
c.2579G>C (p.Gly860Ala)
c.2720G>C (p.Gly907Ala)
Xg.100342028C>TCA414000171PCDH19c.2582G>A (p.Gly861Glu)
c.2723G>A (p.Gly908Glu)
c.2579G>A (p.Gly860Glu)
c.2720G>A (p.Gly907Glu)
Xg.100342029C>ACA414000172PCDH19c.2581G>T (p.Gly861Ter)
c.2722G>T (p.Gly908Ter)
c.2578G>T (p.Gly860Ter)
c.2719G>T (p.Gly907Ter)
Xg.100342029C>GCA414000174PCDH19c.2581G>C (p.Gly861Arg)
c.2722G>C (p.Gly908Arg)
c.2578G>C (p.Gly860Arg)
c.2719G>C (p.Gly907Arg)
Xg.100342029C>TCA414000176PCDH19c.2581G>A (p.Gly861Arg)
c.2722G>A (p.Gly908Arg)
c.2578G>A (p.Gly860Arg)
c.2719G>A (p.Gly907Arg)
Xg.100342030A=CA2447955694PCDH19c.2580T= (p.Ser860=)
c.2721T= (p.Ser907=)
c.2577T= (p.Ser859=)
c.2718T= (p.Ser906=)
Xg.100342030A>CCA414000178PCDH19c.2580T>G (p.Ser860Arg)
c.2721T>G (p.Ser907Arg)
c.2577T>G (p.Ser859Arg)
c.2718T>G (p.Ser906Arg)
Xg.100342030A>GCA234490PCDH19c.2580T>C (p.Ser860=)
c.2721T>C (p.Ser907=)
c.2577T>C (p.Ser859=)
c.2718T>C (p.Ser906=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100342030A>TCA414000179PCDH19c.2580T>A (p.Ser860Arg)
c.2721T>A (p.Ser907Arg)
c.2577T>A (p.Ser859Arg)
c.2718T>A (p.Ser906Arg)
Xg.100342031C>ACA414000182PCDH19c.2579G>T (p.Ser860Ile)
c.2720G>T (p.Ser907Ile)
c.2576G>T (p.Ser859Ile)
c.2717G>T (p.Ser906Ile)
Xg.100342031C>GCA414000183PCDH19c.2579G>C (p.Ser860Thr)
c.2720G>C (p.Ser907Thr)
c.2576G>C (p.Ser859Thr)
c.2717G>C (p.Ser906Thr)
Xg.100342031C>TCA414000184PCDH19c.2579G>A (p.Ser860Asn)
c.2720G>A (p.Ser907Asn)
c.2576G>A (p.Ser859Asn)
c.2717G>A (p.Ser906Asn)
Xg.100342032T>ACA414000189PCDH19c.2578A>T (p.Ser860Cys)
c.2719A>T (p.Ser907Cys)
c.2575A>T (p.Ser859Cys)
c.2716A>T (p.Ser906Cys)
Xg.100342032T>CCA414000187PCDH19c.2578A>G (p.Ser860Gly)
c.2719A>G (p.Ser907Gly)
c.2575A>G (p.Ser859Gly)
c.2716A>G (p.Ser906Gly)
 gnomAD v4
Xg.100342032T>GCA414000186PCDH19c.2578A>C (p.Ser860Arg)
c.2719A>C (p.Ser907Arg)
c.2575A>C (p.Ser859Arg)
c.2716A>C (p.Ser906Arg)
Xg.100342033A>CCA414000190PCDH19c.2577T>G (p.Asp859Glu)
c.2718T>G (p.Asp906Glu)
c.2574T>G (p.Asp858Glu)
c.2715T>G (p.Asp905Glu)
Xg.100342033A>GCA517697075PCDH19c.2577T>C (p.Asp859=)
c.2718T>C (p.Asp906=)
c.2574T>C (p.Asp858=)
c.2715T>C (p.Asp905=)
 gnomAD v4
Xg.100342033A>TCA414000192PCDH19c.2577T>A (p.Asp859Glu)
c.2718T>A (p.Asp906Glu)
c.2574T>A (p.Asp858Glu)
c.2715T>A (p.Asp905Glu)
Xg.100342034T>ACA414000193PCDH19c.2576A>T (p.Asp859Val)
c.2717A>T (p.Asp906Val)
c.2573A>T (p.Asp858Val)
c.2714A>T (p.Asp905Val)
Xg.100342034T>CCA414000195PCDH19c.2576A>G (p.Asp859Gly)
c.2717A>G (p.Asp906Gly)
c.2573A>G (p.Asp858Gly)
c.2714A>G (p.Asp905Gly)
 gnomAD v4
Xg.100342034T>GCA414000197PCDH19c.2576A>C (p.Asp859Ala)
c.2717A>C (p.Asp906Ala)
c.2573A>C (p.Asp858Ala)
c.2714A>C (p.Asp905Ala)
Xg.100342035C>ACA414000198PCDH19c.2575G>T (p.Asp859Tyr)
c.2716G>T (p.Asp906Tyr)
c.2572G>T (p.Asp858Tyr)
c.2713G>T (p.Asp905Tyr)
Xg.100342035C>GCA414000200PCDH19c.2575G>C (p.Asp859His)
c.2716G>C (p.Asp906His)
c.2572G>C (p.Asp858His)
c.2713G>C (p.Asp905His)
Xg.100342035C>TCA414000202PCDH19c.2575G>A (p.Asp859Asn)
c.2716G>A (p.Asp906Asn)
c.2572G>A (p.Asp858Asn)
c.2713G>A (p.Asp905Asn)
 COSMIC COSMIC
Xg.100342036C>ACA414000204PCDH19c.2574G>T (p.Lys858Asn)
c.2715G>T (p.Lys905Asn)
c.2571G>T (p.Lys857Asn)
c.2712G>T (p.Lys904Asn)
Xg.100342036C>GCA414000205PCDH19c.2574G>C (p.Lys858Asn)
c.2715G>C (p.Lys905Asn)
c.2571G>C (p.Lys857Asn)
c.2712G>C (p.Lys904Asn)
Xg.100342036C>TCA517697098PCDH19c.2574G>A (p.Lys858=)
c.2715G>A (p.Lys905=)
c.2571G>A (p.Lys857=)
c.2712G>A (p.Lys904=)

Number of alleles fetched