Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.100342040A>CCA414000219PCDH19c.2570T>G (p.Leu857Arg)
c.2711T>G (p.Leu904Arg)
c.2567T>G (p.Leu856Arg)
c.2708T>G (p.Leu903Arg)
Xg.100342040A>GCA414000217PCDH19c.2570T>C (p.Leu857Pro)
c.2711T>C (p.Leu904Pro)
c.2567T>C (p.Leu856Pro)
c.2708T>C (p.Leu903Pro)
Xg.100342040A>TCA414000220PCDH19c.2570T>A (p.Leu857Gln)
c.2711T>A (p.Leu904Gln)
c.2567T>A (p.Leu856Gln)
c.2708T>A (p.Leu903Gln)
Xg.100342041G>ACA517697118PCDH19c.2569C>T (p.Leu857=)
c.2710C>T (p.Leu904=)
c.2566C>T (p.Leu856=)
c.2707C>T (p.Leu903=)
Xg.100342041G>CCA414000222PCDH19c.2569C>G (p.Leu857Val)
c.2710C>G (p.Leu904Val)
c.2566C>G (p.Leu856Val)
c.2707C>G (p.Leu903Val)
Xg.100342041G>TCA414000224PCDH19c.2569C>A (p.Leu857Met)
c.2710C>A (p.Leu904Met)
c.2566C>A (p.Leu856Met)
c.2707C>A (p.Leu903Met)
 COSMIC COSMIC
Xg.100342042G>ACA517697124PCDH19c.2568C>T (p.Ser856=)
c.2709C>T (p.Ser903=)
c.2565C>T (p.Ser855=)
c.2706C>T (p.Ser902=)
 dbSNP gnomAD v4
Xg.100342042G>CCA414000225PCDH19c.2568C>G (p.Ser856Arg)
c.2709C>G (p.Ser903Arg)
c.2565C>G (p.Ser855Arg)
c.2706C>G (p.Ser902Arg)
Xg.100342042G=CA2447955696PCDH19c.2568C= (p.Ser856=)
c.2709C= (p.Ser903=)
c.2565C= (p.Ser855=)
c.2706C= (p.Ser902=)
Xg.100342042G>TCA414000227PCDH19c.2568C>A (p.Ser856Arg)
c.2709C>A (p.Ser903Arg)
c.2565C>A (p.Ser855Arg)
c.2706C>A (p.Ser902Arg)
Xg.100342043C>ACA414000229PCDH19c.2567G>T (p.Ser856Ile)
c.2708G>T (p.Ser903Ile)
c.2564G>T (p.Ser855Ile)
c.2705G>T (p.Ser902Ile)
Xg.100342043C>GCA414000230PCDH19c.2567G>C (p.Ser856Thr)
c.2708G>C (p.Ser903Thr)
c.2564G>C (p.Ser855Thr)
c.2705G>C (p.Ser902Thr)
Xg.100342043C>TCA414000232PCDH19c.2567G>A (p.Ser856Asn)
c.2708G>A (p.Ser903Asn)
c.2564G>A (p.Ser855Asn)
c.2705G>A (p.Ser902Asn)
 COSMIC COSMIC
Xg.100342044T>ACA414000237PCDH19c.2566A>T (p.Ser856Cys)
c.2707A>T (p.Ser903Cys)
c.2563A>T (p.Ser855Cys)
c.2704A>T (p.Ser902Cys)
Xg.100342044T>CCA414000234PCDH19c.2566A>G (p.Ser856Gly)
c.2707A>G (p.Ser903Gly)
c.2563A>G (p.Ser855Gly)
c.2704A>G (p.Ser902Gly)
 gnomAD v4
Xg.100342044T>GCA414000236PCDH19c.2566A>C (p.Ser856Arg)
c.2707A>C (p.Ser903Arg)
c.2563A>C (p.Ser855Arg)
c.2704A>C (p.Ser902Arg)
Xg.100342045G>ACA517697143PCDH19c.2565C>T (p.Asn855=)
c.2706C>T (p.Asn902=)
c.2562C>T (p.Asn854=)
c.2703C>T (p.Asn901=)
 dbSNP
Xg.100342045G>CCA414000239PCDH19c.2565C>G (p.Asn855Lys)
c.2706C>G (p.Asn902Lys)
c.2562C>G (p.Asn854Lys)
c.2703C>G (p.Asn901Lys)
Xg.100342045G=CA2447955697PCDH19c.2565C= (p.Asn855=)
c.2706C= (p.Asn902=)
c.2562C= (p.Asn854=)
c.2703C= (p.Asn901=)
Xg.100342045G>TCA414000240PCDH19c.2565C>A (p.Asn855Lys)
c.2706C>A (p.Asn902Lys)
c.2562C>A (p.Asn854Lys)
c.2703C>A (p.Asn901Lys)
Xg.100342046T>ACA414000242PCDH19c.2564A>T (p.Asn855Ile)
c.2705A>T (p.Asn902Ile)
c.2561A>T (p.Asn854Ile)
c.2702A>T (p.Asn901Ile)
Xg.100342046T>CCA414000244PCDH19c.2564A>G (p.Asn855Ser)
c.2705A>G (p.Asn902Ser)
c.2561A>G (p.Asn854Ser)
c.2702A>G (p.Asn901Ser)
Xg.100342046T>GCA414000246PCDH19c.2564A>C (p.Asn855Thr)
c.2705A>C (p.Asn902Thr)
c.2561A>C (p.Asn854Thr)
c.2702A>C (p.Asn901Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.100342046T=CA2447955698PCDH19c.2564A= (p.Asn855=)
c.2705A= (p.Asn902=)
c.2561A= (p.Asn854=)
c.2702A= (p.Asn901=)
Xg.100342047dupCA2695236013PCDH19c.2564dup (p.Asn855LysfsTer6)
c.2705dup (p.Asn902LysfsTer6)
c.2561dup (p.Asn854LysfsTer6)
c.2702dup (p.Asn901LysfsTer6)
Xg.100342047T>ACA414000247PCDH19c.2563A>T (p.Asn855Tyr)
c.2704A>T (p.Asn902Tyr)
c.2560A>T (p.Asn854Tyr)
c.2701A>T (p.Asn901Tyr)
Xg.100342047T>CCA414000249PCDH19c.2563A>G (p.Asn855Asp)
c.2704A>G (p.Asn902Asp)
c.2560A>G (p.Asn854Asp)
c.2701A>G (p.Asn901Asp)
Xg.100342047T>GCA414000248PCDH19c.2563A>C (p.Asn855His)
c.2704A>C (p.Asn902His)
c.2560A>C (p.Asn854His)
c.2701A>C (p.Asn901His)
Xg.100342048G>ACA333821207PCDH19c.2562C>T (p.Gly854=)
c.2703C>T (p.Gly901=)
c.2559C>T (p.Gly853=)
c.2700C>T (p.Gly900=)
 dbSNP gnomAD v4
Xg.100342048G>CCA517697156PCDH19c.2562C>G (p.Gly854=)
c.2703C>G (p.Gly901=)
c.2559C>G (p.Gly853=)
c.2700C>G (p.Gly900=)
Xg.100342048G=CA2447955699PCDH19c.2562C= (p.Gly854=)
c.2703C= (p.Gly901=)
c.2559C= (p.Gly853=)
c.2700C= (p.Gly900=)
Xg.100342048G>TCA10468717PCDH19c.2562C>A (p.Gly854=)
c.2703C>A (p.Gly901=)
c.2559C>A (p.Gly853=)
c.2700C>A (p.Gly900=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100342049C>ACA414000252PCDH19c.2561G>T (p.Gly854Val)
c.2702G>T (p.Gly901Val)
c.2558G>T (p.Gly853Val)
c.2699G>T (p.Gly900Val)
Xg.100342049C>GCA414000254PCDH19c.2561G>C (p.Gly854Ala)
c.2702G>C (p.Gly901Ala)
c.2558G>C (p.Gly853Ala)
c.2699G>C (p.Gly900Ala)
Xg.100342049C>TCA414000255PCDH19c.2561G>A (p.Gly854Asp)
c.2702G>A (p.Gly901Asp)
c.2558G>A (p.Gly853Asp)
c.2699G>A (p.Gly900Asp)
 gnomAD v4
Xg.100342050C>ACA414000256PCDH19c.2560G>T (p.Gly854Cys)
c.2701G>T (p.Gly901Cys)
c.2557G>T (p.Gly853Cys)
c.2698G>T (p.Gly900Cys)
Xg.100342050C>GCA414000257PCDH19c.2560G>C (p.Gly854Arg)
c.2701G>C (p.Gly901Arg)
c.2557G>C (p.Gly853Arg)
c.2698G>C (p.Gly900Arg)
Xg.100342050C>TCA414000259PCDH19c.2560G>A (p.Gly854Ser)
c.2701G>A (p.Gly901Ser)
c.2557G>A (p.Gly853Ser)
c.2698G>A (p.Gly900Ser)
Xg.100342051C>ACA414000261PCDH19c.2559G>T (p.Glu853Asp)
c.2700G>T (p.Glu900Asp)
c.2556G>T (p.Glu852Asp)
c.2697G>T (p.Glu899Asp)
Xg.100342051C>GCA414000262PCDH19c.2559G>C (p.Glu853Asp)
c.2700G>C (p.Glu900Asp)
c.2556G>C (p.Glu852Asp)
c.2697G>C (p.Glu899Asp)
Xg.100342051C>TCA517697179PCDH19c.2559G>A (p.Glu853=)
c.2700G>A (p.Glu900=)
c.2556G>A (p.Glu852=)
c.2697G>A (p.Glu899=)
Xg.100342052T>ACA414000263PCDH19c.2558A>T (p.Glu853Val)
c.2699A>T (p.Glu900Val)
c.2555A>T (p.Glu852Val)
c.2696A>T (p.Glu899Val)
Xg.100342052T>CCA414000264PCDH19c.2558A>G (p.Glu853Gly)
c.2699A>G (p.Glu900Gly)
c.2555A>G (p.Glu852Gly)
c.2696A>G (p.Glu899Gly)
Xg.100342052T>GCA414000266PCDH19c.2558A>C (p.Glu853Ala)
c.2699A>C (p.Glu900Ala)
c.2555A>C (p.Glu852Ala)
c.2696A>C (p.Glu899Ala)
Xg.100342052_100342053insGCTTCAGGTATGCACGGCGGAAACGGTAGTGAGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCACCA2822655083PCDH19c.2557_2558insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu853GlyfsTer36)
c.2698_2699insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu900GlyfsTer36)
c.2554_2555insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu852GlyfsTer36)
c.2695_2696insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu899GlyfsTer36)
Xg.100342052_100342053insGCTTCAGGTATGCGCGGCGGAAACGGTAGTGAGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCACCAGCCACAGGTACGCA2822655084PCDH19c.2557_2558insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu853delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln)
c.2698_2699insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu900delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln)
c.2554_2555insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu852delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln)
c.2695_2696insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu899delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln)
Xg.100342052_100342053insGCTTCAGGTATGCGCGGCGGAAACGGTAGTGCGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCACCAGCCACAGGTACGCACCATCCGGGGAGAGCAGTGCGGCAATGAAGCA2518144621PCDH19c.2557_2558insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu853AlafsTer17)
c.2698_2699insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu900AlafsTer17)
c.2554_2555insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu852AlafsTer17)
c.2695_2696insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu899AlafsTer17)
Xg.100342053C>ACA414000270PCDH19c.2557G>T (p.Glu853Ter)
c.2698G>T (p.Glu900Ter)
c.2554G>T (p.Glu852Ter)
c.2695G>T (p.Glu899Ter)
Xg.100342053C=CA2447955700PCDH19c.2557G= (p.Glu853=)
c.2698G= (p.Glu900=)
c.2554G= (p.Glu852=)
c.2695G= (p.Glu899=)
Xg.100342053C>GCA333821208PCDH19c.2557G>C (p.Glu853Gln)
c.2698G>C (p.Glu900Gln)
c.2554G>C (p.Glu852Gln)
c.2695G>C (p.Glu899Gln)
 dbSNP gnomAD v4
Xg.100342053C>TCA414000268PCDH19c.2557G>A (p.Glu853Lys)
c.2698G>A (p.Glu900Lys)
c.2554G>A (p.Glu852Lys)
c.2695G>A (p.Glu899Lys)
Xg.100342054T>ACA414000272PCDH19c.2556A>T (p.Leu852Phe)
c.2697A>T (p.Leu899Phe)
c.2553A>T (p.Leu851Phe)
c.2694A>T (p.Leu898Phe)
Xg.100342054T>CCA517697190PCDH19c.2556A>G (p.Leu852=)
c.2697A>G (p.Leu899=)
c.2553A>G (p.Leu851=)
c.2694A>G (p.Leu898=)
Xg.100342054T>GCA414000273PCDH19c.2556A>C (p.Leu852Phe)
c.2697A>C (p.Leu899Phe)
c.2553A>C (p.Leu851Phe)
c.2694A>C (p.Leu898Phe)
Xg.100342054dupCA915951290PCDH19c.2556dup (p.Glu853ArgfsTer8)
c.2697dup (p.Glu900ArgfsTer8)
c.2553dup (p.Glu852ArgfsTer8)
c.2694dup (p.Glu899ArgfsTer8)
 ClinVar dbSNP
Xg.100342055A>CCA414000275PCDH19c.2555T>G (p.Leu852Ter)
c.2696T>G (p.Leu899Ter)
c.2552T>G (p.Leu851Ter)
c.2693T>G (p.Leu898Ter)
Xg.100342055A>GCA414000277PCDH19c.2555T>C (p.Leu852Ser)
c.2696T>C (p.Leu899Ser)
c.2552T>C (p.Leu851Ser)
c.2693T>C (p.Leu898Ser)
Xg.100342055A>TCA414000278PCDH19c.2555T>A (p.Leu852Ter)
c.2696T>A (p.Leu899Ter)
c.2552T>A (p.Leu851Ter)
c.2693T>A (p.Leu898Ter)
Xg.100342056A>CCA414000280PCDH19c.2554T>G (p.Leu852Val)
c.2695T>G (p.Leu899Val)
c.2551T>G (p.Leu851Val)
c.2692T>G (p.Leu898Val)
Xg.100342056A>GCA517697197PCDH19c.2554T>C (p.Leu852=)
c.2695T>C (p.Leu899=)
c.2551T>C (p.Leu851=)
c.2692T>C (p.Leu898=)
Xg.100342056A>TCA414000282PCDH19c.2554T>A (p.Leu852Ile)
c.2695T>A (p.Leu899Ile)
c.2551T>A (p.Leu851Ile)
c.2692T>A (p.Leu898Ile)
Xg.100342057G>ACA206701PCDH19c.2553C>T (p.Asp851=)
c.2694C>T (p.Asp898=)
c.2550C>T (p.Asp850=)
c.2691C>T (p.Asp897=)
 ClinVar dbSNP ExAC gnomAD v4
Xg.100342057G>CCA414000284PCDH19c.2553C>G (p.Asp851Glu)
c.2694C>G (p.Asp898Glu)
c.2550C>G (p.Asp850Glu)
c.2691C>G (p.Asp897Glu)
Xg.100342057G=CA2447955701PCDH19c.2553C= (p.Asp851=)
c.2694C= (p.Asp898=)
c.2550C= (p.Asp850=)
c.2691C= (p.Asp897=)
Xg.100342057G>TCA414000286PCDH19c.2553C>A (p.Asp851Glu)
c.2694C>A (p.Asp898Glu)
c.2550C>A (p.Asp850Glu)
c.2691C>A (p.Asp897Glu)
Xg.100342058T>ACA414000288PCDH19c.2552A>T (p.Asp851Val)
c.2693A>T (p.Asp898Val)
c.2549A>T (p.Asp850Val)
c.2690A>T (p.Asp897Val)
Xg.100342058T>CCA414000289PCDH19c.2552A>G (p.Asp851Gly)
c.2693A>G (p.Asp898Gly)
c.2549A>G (p.Asp850Gly)
c.2690A>G (p.Asp897Gly)
Xg.100342058T>GCA414000291PCDH19c.2552A>C (p.Asp851Ala)
c.2693A>C (p.Asp898Ala)
c.2549A>C (p.Asp850Ala)
c.2690A>C (p.Asp897Ala)
Xg.100342059C>ACA414000296PCDH19c.2551G>T (p.Asp851Tyr)
c.2692G>T (p.Asp898Tyr)
c.2548G>T (p.Asp850Tyr)
c.2689G>T (p.Asp897Tyr)
Xg.100342059C>GCA414000294PCDH19c.2551G>C (p.Asp851His)
c.2692G>C (p.Asp898His)
c.2548G>C (p.Asp850His)
c.2689G>C (p.Asp897His)
Xg.100342059C>TCA414000293PCDH19c.2551G>A (p.Asp851Asn)
c.2692G>A (p.Asp898Asn)
c.2548G>A (p.Asp850Asn)
c.2689G>A (p.Asp897Asn)
Xg.100342060C>ACA414000298PCDH19c.2550G>T (p.Lys850Asn)
c.2691G>T (p.Lys897Asn)
c.2547G>T (p.Lys849Asn)
c.2688G>T (p.Lys896Asn)
Xg.100342060C>GCA414000299PCDH19c.2550G>C (p.Lys850Asn)
c.2691G>C (p.Lys897Asn)
c.2547G>C (p.Lys849Asn)
c.2688G>C (p.Lys896Asn)
Xg.100342060C>TCA517697212PCDH19c.2550G>A (p.Lys850=)
c.2691G>A (p.Lys897=)
c.2547G>A (p.Lys849=)
c.2688G>A (p.Lys896=)
Xg.100342061T>ACA414000301PCDH19c.2549A>T (p.Lys850Met)
c.2690A>T (p.Lys897Met)
c.2546A>T (p.Lys849Met)
c.2687A>T (p.Lys896Met)
Xg.100342061T>CCA414000302PCDH19c.2549A>G (p.Lys850Arg)
c.2690A>G (p.Lys897Arg)
c.2546A>G (p.Lys849Arg)
c.2687A>G (p.Lys896Arg)
Xg.100342061T>GCA414000304PCDH19c.2549A>C (p.Lys850Thr)
c.2690A>C (p.Lys897Thr)
c.2546A>C (p.Lys849Thr)
c.2687A>C (p.Lys896Thr)
Xg.100342062T>ACA414000306PCDH19c.2548A>T (p.Lys850Ter)
c.2689A>T (p.Lys897Ter)
c.2545A>T (p.Lys849Ter)
c.2686A>T (p.Lys896Ter)
Xg.100342062T>CCA414000308PCDH19c.2548A>G (p.Lys850Glu)
c.2689A>G (p.Lys897Glu)
c.2545A>G (p.Lys849Glu)
c.2686A>G (p.Lys896Glu)
Xg.100342062T>GCA414000309PCDH19c.2548A>C (p.Lys850Gln)
c.2689A>C (p.Lys897Gln)
c.2545A>C (p.Lys849Gln)
c.2686A>C (p.Lys896Gln)
Xg.100342063G>ACA517697216PCDH19c.2547C>T (p.Phe849=)
c.2688C>T (p.Phe896=)
c.2544C>T (p.Phe848=)
c.2685C>T (p.Phe895=)
Xg.100342063G>CCA414000311PCDH19c.2547C>G (p.Phe849Leu)
c.2688C>G (p.Phe896Leu)
c.2544C>G (p.Phe848Leu)
c.2685C>G (p.Phe895Leu)
 COSMIC COSMIC
Xg.100342063G>TCA414000313PCDH19c.2547C>A (p.Phe849Leu)
c.2688C>A (p.Phe896Leu)
c.2544C>A (p.Phe848Leu)
c.2685C>A (p.Phe895Leu)
Xg.100342064A=CA2447955702PCDH19c.2546T= (p.Phe849=)
c.2687T= (p.Phe896=)
c.2543T= (p.Phe848=)
c.2684T= (p.Phe895=)
Xg.100342064A>CCA414000314PCDH19c.2546T>G (p.Phe849Cys)
c.2687T>G (p.Phe896Cys)
c.2543T>G (p.Phe848Cys)
c.2684T>G (p.Phe895Cys)
Xg.100342064A>GCA316384PCDH19c.2546T>C (p.Phe849Ser)
c.2687T>C (p.Phe896Ser)
c.2543T>C (p.Phe848Ser)
c.2684T>C (p.Phe895Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.100342064A>TCA414000316PCDH19c.2546T>A (p.Phe849Tyr)
c.2687T>A (p.Phe896Tyr)
c.2543T>A (p.Phe848Tyr)
c.2684T>A (p.Phe895Tyr)
Xg.100342065delCA2694250721PCDH19c.2546del (p.Phe849SerfsTer4)
c.2687del (p.Phe896SerfsTer4)
c.2543del (p.Phe848SerfsTer4)
c.2684del (p.Phe895SerfsTer4)
 gnomAD v4
Xg.100342065A>CCA414000320PCDH19c.2545T>G (p.Phe849Val)
c.2686T>G (p.Phe896Val)
c.2542T>G (p.Phe848Val)
c.2683T>G (p.Phe895Val)
Xg.100342065A>GCA414000321PCDH19c.2545T>C (p.Phe849Leu)
c.2686T>C (p.Phe896Leu)
c.2542T>C (p.Phe848Leu)
c.2683T>C (p.Phe895Leu)
 COSMIC COSMIC
Xg.100342065A>TCA414000319PCDH19c.2545T>A (p.Phe849Ile)
c.2686T>A (p.Phe896Ile)
c.2542T>A (p.Phe848Ile)
c.2683T>A (p.Phe895Ile)
Xg.100342066G>ACA517697227PCDH19c.2544C>T (p.Thr848=)
c.2685C>T (p.Thr895=)
c.2541C>T (p.Thr847=)
c.2682C>T (p.Thr894=)
 gnomAD v4
Xg.100342066G>CCA517697230PCDH19c.2544C>G (p.Thr848=)
c.2685C>G (p.Thr895=)
c.2541C>G (p.Thr847=)
c.2682C>G (p.Thr894=)
Xg.100342066G>TCA517697232PCDH19c.2544C>A (p.Thr848=)
c.2685C>A (p.Thr895=)
c.2541C>A (p.Thr847=)
c.2682C>A (p.Thr894=)
Xg.100342067G>ACA414000323PCDH19c.2543C>T (p.Thr848Ile)
c.2684C>T (p.Thr895Ile)
c.2540C>T (p.Thr847Ile)
c.2681C>T (p.Thr894Ile)
 ClinVar dbSNP
Xg.100342067G>CCA414000327PCDH19c.2543C>G (p.Thr848Ser)
c.2684C>G (p.Thr895Ser)
c.2540C>G (p.Thr847Ser)
c.2681C>G (p.Thr894Ser)
Xg.100342067G>TCA414000325PCDH19c.2543C>A (p.Thr848Asn)
c.2684C>A (p.Thr895Asn)
c.2540C>A (p.Thr847Asn)
c.2681C>A (p.Thr894Asn)
Xg.100342067_100342076delinsGTGGAGCTGCCA2447955703PCDH19c.2535-1_2543delinsGCAGCTCCAC
c.2676-1_2684delinsGCAGCTCCAC
c.2535-4_2540delinsGCAGCTCCAC
c.2676-4_2681delinsGCAGCTCCAC
Xg.100342068T>ACA414000328PCDH19c.2542A>T (p.Thr848Ser)
c.2683A>T (p.Thr895Ser)
c.2539A>T (p.Thr847Ser)
c.2680A>T (p.Thr894Ser)
Xg.100342068T>CCA414000330PCDH19c.2542A>G (p.Thr848Ala)
c.2683A>G (p.Thr895Ala)
c.2539A>G (p.Thr847Ala)
c.2680A>G (p.Thr894Ala)
Xg.100342068T>GCA414000332PCDH19c.2542A>C (p.Thr848Pro)
c.2683A>C (p.Thr895Pro)
c.2539A>C (p.Thr847Pro)
c.2680A>C (p.Thr894Pro)
 gnomAD v4
Xg.100342071_100342079delCA16621145PCDH19c.2535-1_2542del
c.2676-1_2683del
c.2535-4_2539del
c.2676-4_2680del
 ClinVar dbSNP
Xg.100342069G>ACA517697241PCDH19c.2541C>T (p.Ser847=)
c.2682C>T (p.Ser894=)
c.2538C>T (p.Ser846=)
c.2679C>T (p.Ser893=)
Xg.100342069G>CCA517697243PCDH19c.2541C>G (p.Ser847=)
c.2682C>G (p.Ser894=)
c.2538C>G (p.Ser846=)
c.2679C>G (p.Ser893=)
Xg.100342069G>TCA517697244PCDH19c.2541C>A (p.Ser847=)
c.2682C>A (p.Ser894=)
c.2538C>A (p.Ser846=)
c.2679C>A (p.Ser893=)
Xg.100342070G>ACA414000334PCDH19c.2540C>T (p.Ser847Phe)
c.2681C>T (p.Ser894Phe)
c.2537C>T (p.Ser846Phe)
c.2678C>T (p.Ser893Phe)
Xg.100342070G>CCA414000335PCDH19c.2540C>G (p.Ser847Cys)
c.2681C>G (p.Ser894Cys)
c.2537C>G (p.Ser846Cys)
c.2678C>G (p.Ser893Cys)
Xg.100342070G=CA2447955704PCDH19c.2540C= (p.Ser847=)
c.2681C= (p.Ser894=)
c.2537C= (p.Ser846=)
c.2678C= (p.Ser893=)
Xg.100342070G>TCA10468718PCDH19c.2540C>A (p.Ser847Tyr)
c.2681C>A (p.Ser894Tyr)
c.2537C>A (p.Ser846Tyr)
c.2678C>A (p.Ser893Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100342071A>CCA414000338PCDH19c.2539T>G (p.Ser847Ala)
c.2680T>G (p.Ser894Ala)
c.2536T>G (p.Ser846Ala)
c.2677T>G (p.Ser893Ala)
Xg.100342071A>GCA414000339PCDH19c.2539T>C (p.Ser847Pro)
c.2680T>C (p.Ser894Pro)
c.2536T>C (p.Ser846Pro)
c.2677T>C (p.Ser893Pro)
Xg.100342071A>TCA414000341PCDH19c.2539T>A (p.Ser847Thr)
c.2680T>A (p.Ser894Thr)
c.2536T>A (p.Ser846Thr)
c.2677T>A (p.Ser893Thr)
Xg.100342072G>ACA517697252PCDH19c.2538C>T (p.Ser846=)
c.2679C>T (p.Ser893=)
c.2535C>T (p.Ser845=)
c.2676C>T (p.Ser892=)
Xg.100342072G>CCA414000342PCDH19c.2538C>G (p.Ser846Arg)
c.2679C>G (p.Ser893Arg)
c.2535C>G (p.Ser845Arg)
c.2676C>G (p.Ser892Arg)
Xg.100342072G>TCA414000344PCDH19c.2538C>A (p.Ser846Arg)
c.2679C>A (p.Ser893Arg)
c.2535C>A (p.Ser845Arg)
c.2676C>A (p.Ser892Arg)
Xg.100342073C>ACA414000348PCDH19c.2537G>T (p.Ser846Ile)
c.2678G>T (p.Ser893Ile)
c.2535-1G>T (n.2535-1G>T)
c.2676-1G>T (n.2676-1G>T)
 COSMIC COSMIC
Xg.100342073C>GCA414000347PCDH19c.2537G>C (p.Ser846Thr)
c.2678G>C (p.Ser893Thr)
c.2535-1G>C (n.2535-1G>C)
c.2676-1G>C (n.2676-1G>C)
 COSMIC COSMIC
Xg.100342073C>TCA414000345PCDH19c.2537G>A (p.Ser846Asn)
c.2678G>A (p.Ser893Asn)
c.2535-1G>A (n.2535-1G>A)
c.2676-1G>A (n.2676-1G>A)
Xg.100342074T>ACA414000350PCDH19c.2536A>T (p.Ser846Cys)
c.2677A>T (p.Ser893Cys)
c.2535-2A>T (n.2535-2A>T)
c.2676-2A>T (n.2676-2A>T)
Xg.100342074T>CCA414000351PCDH19c.2536A>G (p.Ser846Gly)
c.2677A>G (p.Ser893Gly)
c.2535-2A>G (n.2535-2A>G)
c.2676-2A>G (n.2676-2A>G)
Xg.100342074T>GCA414000352PCDH19c.2536A>C (p.Ser846Arg)
c.2677A>C (p.Ser893Arg)
c.2535-2A>C (n.2535-2A>C)
c.2676-2A>C (n.2676-2A>C)
Xg.100342075G>ACA517697265PCDH19c.2535C>T (p.Ser845=)
c.2676C>T (p.Ser892=)
c.2535-3C>T (n.2535-3C>T)
c.2676-3C>T (n.2676-3C>T)
 dbSNP
Xg.100342075G>CCA414000353PCDH19c.2535C>G (p.Ser845Arg)
c.2676C>G (p.Ser892Arg)
c.2535-3C>G (n.2535-3C>G)
c.2676-3C>G (n.2676-3C>G)
Xg.100342075G=CA2447955705PCDH19c.2535C= (p.Ser845=)
c.2676C= (p.Ser892=)
c.2535-3C= (n.2535-3C=)
c.2676-3C= (n.2676-3C=)
Xg.100342075G>TCA414000354PCDH19c.2535C>A (p.Ser845Arg)
c.2676C>A (p.Ser892Arg)
c.2535-3C>A (n.2535-3C>A)
c.2676-3C>A (n.2676-3C>A)
Xg.100342076C>ACA414000356PCDH19c.2535-1G>T (n.2535-1G>T)
c.2676-1G>T (n.2676-1G>T)
c.2535-4G>T (n.2535-4G>T)
c.2676-4G>T (n.2676-4G>T)
Xg.100342076C>GCA414000358PCDH19c.2535-1G>C (n.2535-1G>C)
c.2676-1G>C (n.2676-1G>C)
c.2535-4G>C (n.2535-4G>C)
c.2676-4G>C (n.2676-4G>C)
Xg.100342076C>TCA414000359PCDH19c.2535-1G>A (n.2535-1G>A)
c.2676-1G>A (n.2676-1G>A)
c.2535-4G>A (n.2535-4G>A)
c.2676-4G>A (n.2676-4G>A)
Xg.100342077T>ACA414000361PCDH19c.2535-2A>T (n.2535-2A>T)
c.2676-2A>T (n.2676-2A>T)
c.2535-5A>T (n.2535-5A>T)
c.2676-5A>T (n.2676-5A>T)
Xg.100342077T>CCA414000363PCDH19c.2535-2A>G (n.2535-2A>G)
c.2676-2A>G (n.2676-2A>G)
c.2535-5A>G (n.2535-5A>G)
c.2676-5A>G (n.2676-5A>G)
Xg.100342077T>GCA414000364PCDH19c.2535-2A>C (n.2535-2A>C)
c.2676-2A>C (n.2676-2A>C)
c.2535-5A>C (n.2535-5A>C)
c.2676-5A>C (n.2676-5A>C)
Xg.100342079G>ACA643538082PCDH19c.2535-4C>T (n.2535-4C>T)
c.2676-4C>T (n.2676-4C>T)
c.2535-7C>T (n.2535-7C>T)
c.2676-7C>T (n.2676-7C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.100342079G=CA2447955706PCDH19c.2535-4C= (n.2535-4C=)
c.2676-4C= (n.2676-4C=)
c.2535-7C= (n.2535-7C=)
c.2676-7C= (n.2676-7C=)
Xg.100342079G>TCA2579659194PCDH19c.2535-4C>A (n.2535-4C>A)
c.2676-4C>A (n.2676-4C>A)
c.2535-7C>A (n.2535-7C>A)
c.2676-7C>A (n.2676-7C>A)
Xg.100342081T>CCA915951291PCDH19c.2535-6A>G (n.2535-6A>G)
c.2676-6A>G (n.2676-6A>G)
c.2535-9A>G (n.2535-9A>G)
c.2676-9A>G (n.2676-9A>G)
 ClinVar dbSNP
Xg.100342081T=CA2447955707PCDH19c.2535-6A= (n.2535-6A=)
c.2676-6A= (n.2676-6A=)
c.2535-9A= (n.2535-9A=)
c.2676-9A= (n.2676-9A=)
Xg.100342083G>ACA869217058PCDH19c.2535-8C>T (n.2535-8C>T)
c.2676-8C>T (n.2676-8C>T)
c.2535-11C>T (n.2535-11C>T)
c.2676-11C>T (n.2676-11C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.100342083G=CA2447955708PCDH19c.2535-8C= (n.2535-8C=)
c.2676-8C= (n.2676-8C=)
c.2535-11C= (n.2535-11C=)
c.2676-11C= (n.2676-11C=)
Xg.100342083G>TCA916083974PCDH19c.2535-8C>A (n.2535-8C>A)
c.2676-8C>A (n.2676-8C>A)
c.2535-11C>A (n.2535-11C>A)
c.2676-11C>A (n.2676-11C>A)
 ClinVar dbSNP
Xg.100342085A=CA2447955709PCDH19c.2535-10T= (n.2535-10T=)
c.2676-10T= (n.2676-10T=)
c.2535-13T= (n.2535-13T=)
c.2676-13T= (n.2676-13T=)
Xg.100342085A>CCA869217065PCDH19c.2535-10T>G (n.2535-10T>G)
c.2676-10T>G (n.2676-10T>G)
c.2535-13T>G (n.2535-13T>G)
c.2676-13T>G (n.2676-13T>G)
 ClinVar dbSNP gnomAD v4
Xg.100342085A>GCA2822655085PCDH19c.2535-10T>C (n.2535-10T>C)
c.2676-10T>C (n.2676-10T>C)
c.2535-13T>C (n.2535-13T>C)
c.2676-13T>C (n.2676-13T>C)
Xg.100342086G>ACA2694250722PCDH19c.2535-11C>T (n.2535-11C>T)
c.2676-11C>T (n.2676-11C>T)
c.2535-14C>T (n.2535-14C>T)
c.2676-14C>T (n.2676-14C>T)
 ClinVar gnomAD v4
Xg.100342086G>TCA2579659195PCDH19c.2535-11C>A (n.2535-11C>A)
c.2676-11C>A (n.2676-11C>A)
c.2535-14C>A (n.2535-14C>A)
c.2676-14C>A (n.2676-14C>A)
 gnomAD v4
Xg.100342087A=CA2447955710PCDH19c.2535-12T= (n.2535-12T=)
c.2676-12T= (n.2676-12T=)
c.2535-15T= (n.2535-15T=)
c.2676-15T= (n.2676-15T=)
Xg.100342087A>GCA2447955711PCDH19c.2535-12T>C (n.2535-12T>C)
c.2676-12T>C (n.2676-12T>C)
c.2535-15T>C (n.2535-15T>C)
c.2676-15T>C (n.2676-15T>C)
 dbSNP
Xg.100342088C>ACA2694250723PCDH19c.2535-13G>T (n.2535-13G>T)
c.2676-13G>T (n.2676-13G>T)
c.2535-16G>T (n.2535-16G>T)
c.2676-16G>T (n.2676-16G>T)
 gnomAD v4
Xg.100342088C>GCA2822655086PCDH19c.2535-13G>C (n.2535-13G>C)
c.2676-13G>C (n.2676-13G>C)
c.2535-16G>C (n.2535-16G>C)
c.2676-16G>C (n.2676-16G>C)
Xg.100342089A=CA2447955712PCDH19c.2535-14T= (n.2535-14T=)
c.2676-14T= (n.2676-14T=)
c.2535-17T= (n.2535-17T=)
c.2676-17T= (n.2676-17T=)
Xg.100342089A>GCA1135800780PCDH19c.2535-14T>C (n.2535-14T>C)
c.2676-14T>C (n.2676-14T>C)
c.2535-17T>C (n.2535-17T>C)
c.2676-17T>C (n.2676-17T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.100342090G>ACA10468719PCDH19c.2535-15C>T (n.2535-15C>T)
c.2676-15C>T (n.2676-15C>T)
c.2535-18C>T (n.2535-18C>T)
c.2676-18C>T (n.2676-18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100342090G=CA2447955713PCDH19c.2535-15C= (n.2535-15C=)
c.2676-15C= (n.2676-15C=)
c.2535-18C= (n.2535-18C=)
c.2676-18C= (n.2676-18C=)
Xg.100342090G>TCA2536867799PCDH19c.2535-15C>A (n.2535-15C>A)
c.2676-15C>A (n.2676-15C>A)
c.2535-18C>A (n.2535-18C>A)
c.2676-18C>A (n.2676-18C>A)
Xg.100342092A=CA2447955714PCDH19c.2535-17T= (n.2535-17T=)
c.2676-17T= (n.2676-17T=)
c.2535-20T= (n.2535-20T=)
c.2676-20T= (n.2676-20T=)
Xg.100342092A>GCA333821209PCDH19c.2535-17T>C (n.2535-17T>C)
c.2676-17T>C (n.2676-17T>C)
c.2535-20T>C (n.2535-20T>C)
c.2676-20T>C (n.2676-20T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.100342094G=CA2447955715PCDH19c.2535-19C= (n.2535-19C=)
c.2676-19C= (n.2676-19C=)
c.2535-22C= (n.2535-22C=)
c.2676-22C= (n.2676-22C=)
Xg.100342096_100342097dupCA643538083PCDH19c.2535-21_2535-20dup (n.2535-21_2535-20dup)
c.2676-21_2676-20dup (n.2676-21_2676-20dup)
c.2535-24_2535-23dup (n.2535-24_2535-23dup)
c.2676-24_2676-23dup (n.2676-24_2676-23dup)
 dbSNP gnomAD v2
Xg.100342096delCA2579659196PCDH19c.2535-21del (n.2535-21del)
c.2676-21del (n.2676-21del)
c.2535-24del (n.2535-24del)
c.2676-24del (n.2676-24del)
Xg.100342096T>ACA2447955717PCDH19c.2535-21A>T (n.2535-21A>T)
c.2676-21A>T (n.2676-21A>T)
c.2535-24A>T (n.2535-24A>T)
c.2676-24A>T (n.2676-24A>T)
 dbSNP gnomAD v4
Xg.100342096T>CCA2694250724PCDH19c.2535-21A>G (n.2535-21A>G)
c.2676-21A>G (n.2676-21A>G)
c.2535-24A>G (n.2535-24A>G)
c.2676-24A>G (n.2676-24A>G)
 gnomAD v4
Xg.100342096T=CA2447955716PCDH19c.2535-21A= (n.2535-21A=)
c.2676-21A= (n.2676-21A=)
c.2535-24A= (n.2535-24A=)
c.2676-24A= (n.2676-24A=)
Xg.100342098_100342099delinsATCA2447955718PCDH19c.2535-24_2535-23delinsAT (n.2535-24_2535-23delinsAT)
c.2676-24_2676-23delinsAT (n.2676-24_2676-23delinsAT)
c.2535-27_2535-26delinsAT (n.2535-27_2535-26delinsAT)
c.2676-27_2676-26delinsAT (n.2676-27_2676-26delinsAT)
Xg.100342101delCA10468720PCDH19c.2535-24del (n.2535-24del)
c.2676-24del (n.2676-24del)
c.2535-27del (n.2535-27del)
c.2676-27del (n.2676-27del)
 dbSNP ExAC gnomAD v2
Xg.100342100T>GCA869217088PCDH19c.2535-25A>C (n.2535-25A>C)
c.2676-25A>C (n.2676-25A>C)
c.2535-28A>C (n.2535-28A>C)
c.2676-28A>C (n.2676-28A>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.100342100T=CA2447955719PCDH19c.2535-25A= (n.2535-25A=)
c.2676-25A= (n.2676-25A=)
c.2535-28A= (n.2535-28A=)
c.2676-28A= (n.2676-28A=)
Xg.100342101T>ACA2694250725PCDH19c.2535-26A>T (n.2535-26A>T)
c.2676-26A>T (n.2676-26A>T)
c.2535-29A>T (n.2535-29A>T)
c.2676-29A>T (n.2676-29A>T)
 gnomAD v4
Xg.100342101T>CCA2694250726PCDH19c.2535-26A>G (n.2535-26A>G)
c.2676-26A>G (n.2676-26A>G)
c.2535-29A>G (n.2535-29A>G)
c.2676-29A>G (n.2676-29A>G)
 gnomAD v4
Xg.100342102A=CA2447955720PCDH19c.2535-27T= (n.2535-27T=)
c.2676-27T= (n.2676-27T=)
c.2535-30T= (n.2535-30T=)
c.2676-30T= (n.2676-30T=)
Xg.100342102A>GCA869217094PCDH19c.2535-27T>C (n.2535-27T>C)
c.2676-27T>C (n.2676-27T>C)
c.2535-30T>C (n.2535-30T>C)
c.2676-30T>C (n.2676-30T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.100342103C=CA2447955721PCDH19c.2535-28G= (n.2535-28G=)
c.2676-28G= (n.2676-28G=)
c.2535-31G= (n.2535-31G=)
c.2676-31G= (n.2676-31G=)
Xg.100342103C>TCA10468721PCDH19c.2535-28G>A (n.2535-28G>A)
c.2676-28G>A (n.2676-28G>A)
c.2535-31G>A (n.2535-31G>A)
c.2676-31G>A (n.2676-31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100342104G>ACA10468722PCDH19c.2535-29C>T (n.2535-29C>T)
c.2676-29C>T (n.2676-29C>T)
c.2535-32C>T (n.2535-32C>T)
c.2676-32C>T (n.2676-32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100342104G=CA2447955722PCDH19c.2535-29C= (n.2535-29C=)
c.2676-29C= (n.2676-29C=)
c.2535-32C= (n.2535-32C=)
c.2676-32C= (n.2676-32C=)
Xg.100342104G>TCA10468723PCDH19c.2535-29C>A (n.2535-29C>A)
c.2676-29C>A (n.2676-29C>A)
c.2535-32C>A (n.2535-32C>A)
c.2676-32C>A (n.2676-32C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100342106C>TCA2694250727PCDH19c.2535-31G>A (n.2535-31G>A)
c.2676-31G>A (n.2676-31G>A)
c.2535-34G>A (n.2535-34G>A)
c.2676-34G>A (n.2676-34G>A)
 gnomAD v4
Xg.100342107C>ACA2447955724PCDH19c.2535-32G>T (n.2535-32G>T)
c.2676-32G>T (n.2676-32G>T)
c.2535-35G>T (n.2535-35G>T)
c.2676-35G>T (n.2676-35G>T)
 dbSNP
Xg.100342107C=CA2447955723PCDH19c.2535-32G= (n.2535-32G=)
c.2676-32G= (n.2676-32G=)
c.2535-35G= (n.2535-35G=)
c.2676-35G= (n.2676-35G=)
Xg.100342107C>TCA10468724PCDH19c.2535-32G>A (n.2535-32G>A)
c.2676-32G>A (n.2676-32G>A)
c.2535-35G>A (n.2535-35G>A)
c.2676-35G>A (n.2676-35G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100342108G>ACA10468725PCDH19c.2535-33C>T (n.2535-33C>T)
c.2676-33C>T (n.2676-33C>T)
c.2535-36C>T (n.2535-36C>T)
c.2676-36C>T (n.2676-36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100342108G>CCA2694250728PCDH19c.2535-33C>G (n.2535-33C>G)
c.2676-33C>G (n.2676-33C>G)
c.2535-36C>G (n.2535-36C>G)
c.2676-36C>G (n.2676-36C>G)
 gnomAD v4
Xg.100342108G=CA2447955725PCDH19c.2535-33C= (n.2535-33C=)
c.2676-33C= (n.2676-33C=)
c.2535-36C= (n.2535-36C=)
c.2676-36C= (n.2676-36C=)
Xg.100342108G>TCA2694250729PCDH19c.2535-33C>A (n.2535-33C>A)
c.2676-33C>A (n.2676-33C>A)
c.2535-36C>A (n.2535-36C>A)
c.2676-36C>A (n.2676-36C>A)
 gnomAD v4
Xg.100342109T>CCA869217104PCDH19c.2535-34A>G (n.2535-34A>G)
c.2676-34A>G (n.2676-34A>G)
c.2535-37A>G (n.2535-37A>G)
c.2676-37A>G (n.2676-37A>G)
 dbSNP
Xg.100342109T=CA2447955727PCDH19c.2535-34A= (n.2535-34A=)
c.2676-34A= (n.2676-34A=)
c.2535-37A= (n.2535-37A=)
c.2676-37A= (n.2676-37A=)
Xg.100342109_100342113delinsTGACACA2447955726PCDH19c.2535-38_2535-34delinsTGTCA (n.2535-38_2535-34delinsTGTCA)
c.2676-38_2676-34delinsTGTCA (n.2676-38_2676-34delinsTGTCA)
c.2535-41_2535-37delinsTGTCA (n.2535-41_2535-37delinsTGTCA)
c.2676-41_2676-37delinsTGTCA (n.2676-41_2676-37delinsTGTCA)
Xg.100342110G>ACA333821210PCDH19c.2535-35C>T (n.2535-35C>T)
c.2676-35C>T (n.2676-35C>T)
c.2535-38C>T (n.2535-38C>T)
c.2676-38C>T (n.2676-38C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.100342110G=CA2447955728PCDH19c.2535-35C= (n.2535-35C=)
c.2676-35C= (n.2676-35C=)
c.2535-38C= (n.2535-38C=)
c.2676-38C= (n.2676-38C=)
Xg.100342110G>TCA2694250730PCDH19c.2535-35C>A (n.2535-35C>A)
c.2676-35C>A (n.2676-35C>A)
c.2535-38C>A (n.2535-38C>A)
c.2676-38C>A (n.2676-38C>A)
 gnomAD v4
Xg.100342112_100342115delCA643538084PCDH19c.2535-38_2535-35del (n.2535-38_2535-35del)
c.2676-38_2676-35del (n.2676-38_2676-35del)
c.2535-41_2535-38del (n.2535-41_2535-38del)
c.2676-41_2676-38del (n.2676-41_2676-38del)
 dbSNP gnomAD v2 gnomAD v4
Xg.100342112C>ACA2694250731PCDH19c.2535-37G>T (n.2535-37G>T)
c.2676-37G>T (n.2676-37G>T)
c.2535-40G>T (n.2535-40G>T)
c.2676-40G>T (n.2676-40G>T)
 gnomAD v4
Xg.100342112C>TCA2694250732PCDH19c.2535-37G>A (n.2535-37G>A)
c.2676-37G>A (n.2676-37G>A)
c.2535-40G>A (n.2535-40G>A)
c.2676-40G>A (n.2676-40G>A)
 gnomAD v4
Xg.100342113A=CA2447955729PCDH19c.2535-38T= (n.2535-38T=)
c.2676-38T= (n.2676-38T=)
c.2535-41T= (n.2535-41T=)
c.2676-41T= (n.2676-41T=)
Xg.100342113A>GCA2447955730PCDH19c.2535-38T>C (n.2535-38T>C)
c.2676-38T>C (n.2676-38T>C)
c.2535-41T>C (n.2535-41T>C)
c.2676-41T>C (n.2676-41T>C)
 dbSNP
Xg.100342114G>ACA10468727PCDH19c.2535-39C>T (n.2535-39C>T)
c.2676-39C>T (n.2676-39C>T)
c.2535-42C>T (n.2535-42C>T)
c.2676-42C>T (n.2676-42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100342114G=CA2447955731PCDH19c.2535-39C= (n.2535-39C=)
c.2676-39C= (n.2676-39C=)
c.2535-42C= (n.2535-42C=)
c.2676-42C= (n.2676-42C=)
Xg.100342114G>TCA10468726PCDH19c.2535-39C>A (n.2535-39C>A)
c.2676-39C>A (n.2676-39C>A)
c.2535-42C>A (n.2535-42C>A)
c.2676-42C>A (n.2676-42C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100342115A=CA2447955732PCDH19c.2535-40T= (n.2535-40T=)
c.2676-40T= (n.2676-40T=)
c.2535-43T= (n.2535-43T=)
c.2676-43T= (n.2676-43T=)
Xg.100342115A>GCA2694250733PCDH19c.2535-40T>C (n.2535-40T>C)
c.2676-40T>C (n.2676-40T>C)
c.2535-43T>C (n.2535-43T>C)
c.2676-43T>C (n.2676-43T>C)
 gnomAD v4
Xg.100342115A>TCA10468728PCDH19c.2535-40T>A (n.2535-40T>A)
c.2676-40T>A (n.2676-40T>A)
c.2535-43T>A (n.2535-43T>A)
c.2676-43T>A (n.2676-43T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100342116T>ACA643538085PCDH19c.2535-41A>T (n.2535-41A>T)
c.2676-41A>T (n.2676-41A>T)
c.2535-44A>T (n.2535-44A>T)
c.2676-44A>T (n.2676-44A>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.100342116T>GCA2579659197PCDH19c.2535-41A>C (n.2535-41A>C)
c.2676-41A>C (n.2676-41A>C)
c.2535-44A>C (n.2535-44A>C)
c.2676-44A>C (n.2676-44A>C)
 gnomAD v4
Xg.100342116T=CA2447955733PCDH19c.2535-41A= (n.2535-41A=)
c.2676-41A= (n.2676-41A=)
c.2535-44A= (n.2535-44A=)
c.2676-44A= (n.2676-44A=)
Xg.100342117C>TCA2694250734PCDH19c.2535-42G>A (n.2535-42G>A)
c.2676-42G>A (n.2676-42G>A)
c.2535-45G>A (n.2535-45G>A)
c.2676-45G>A (n.2676-45G>A)
 gnomAD v4
Xg.100342118T>CCA2694250735PCDH19c.2535-43A>G (n.2535-43A>G)
c.2676-43A>G (n.2676-43A>G)
c.2535-46A>G (n.2535-46A>G)
c.2676-46A>G (n.2676-46A>G)
 gnomAD v4
Xg.100342119G=CA2447955734PCDH19c.2535-44C= (n.2535-44C=)
c.2676-44C= (n.2676-44C=)
c.2535-47C= (n.2535-47C=)
c.2676-47C= (n.2676-47C=)
Xg.100342119G>TCA2447955735PCDH19c.2535-44C>A (n.2535-44C>A)
c.2676-44C>A (n.2676-44C>A)
c.2535-47C>A (n.2535-47C>A)
c.2676-47C>A (n.2676-47C>A)
 dbSNP gnomAD v4
Xg.100342120A>GCA2579659198PCDH19c.2535-45T>C (n.2535-45T>C)
c.2676-45T>C (n.2676-45T>C)
c.2535-48T>C (n.2535-48T>C)
c.2676-48T>C (n.2676-48T>C)
Xg.100342124T>ACA2694250736PCDH19c.2535-49A>T (n.2535-49A>T)
c.2676-49A>T (n.2676-49A>T)
c.2535-52A>T (n.2535-52A>T)
c.2676-52A>T (n.2676-52A>T)
 gnomAD v4
Xg.100342125A>GCA2694250737PCDH19c.2535-50T>C (n.2535-50T>C)
c.2676-50T>C (n.2676-50T>C)
c.2535-53T>C (n.2535-53T>C)
c.2676-53T>C (n.2676-53T>C)
 gnomAD v4
Xg.100342126A>GCA2694250738PCDH19c.2535-51T>C (n.2535-51T>C)
c.2676-51T>C (n.2676-51T>C)
c.2535-54T>C (n.2535-54T>C)
c.2676-54T>C (n.2676-54T>C)
 gnomAD v4
Xg.100342128A=CA2447955737PCDH19c.2535-53T= (n.2535-53T=)
c.2676-53T= (n.2676-53T=)
c.2535-56T= (n.2535-56T=)
c.2676-56T= (n.2676-56T=)
Xg.100342128A>CCA2447955736PCDH19c.2535-53T>G (n.2535-53T>G)
c.2676-53T>G (n.2676-53T>G)
c.2535-56T>G (n.2535-56T>G)
c.2676-56T>G (n.2676-56T>G)
 dbSNP
Xg.100342128A>TCA2694250739PCDH19c.2535-53T>A (n.2535-53T>A)
c.2676-53T>A (n.2676-53T>A)
c.2535-56T>A (n.2535-56T>A)
c.2676-56T>A (n.2676-56T>A)
 gnomAD v4
Xg.100342129A>TCA2694250740PCDH19c.2535-54T>A (n.2535-54T>A)
c.2676-54T>A (n.2676-54T>A)
c.2535-57T>A (n.2535-57T>A)
c.2676-57T>A (n.2676-57T>A)
 gnomAD v4
Xg.100342131C>ACA2694250741PCDH19c.2535-56G>T (n.2535-56G>T)
c.2676-56G>T (n.2676-56G>T)
c.2535-59G>T (n.2535-59G>T)
c.2676-59G>T (n.2676-59G>T)
 gnomAD v4
Xg.100342135C=CA2447955738PCDH19c.2535-60G= (n.2535-60G=)
c.2676-60G= (n.2676-60G=)
c.2535-63G= (n.2535-63G=)
c.2676-63G= (n.2676-63G=)
Xg.100342135C>TCA2447955739PCDH19c.2535-60G>A (n.2535-60G>A)
c.2676-60G>A (n.2676-60G>A)
c.2535-63G>A (n.2535-63G>A)
c.2676-63G>A (n.2676-63G>A)
 dbSNP gnomAD v4
Xg.100342136T>ACA333821211PCDH19c.2535-61A>T (n.2535-61A>T)
c.2676-61A>T (n.2676-61A>T)
c.2535-64A>T (n.2535-64A>T)
c.2676-64A>T (n.2676-64A>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.100342136T>CCA2694250742PCDH19c.2535-61A>G (n.2535-61A>G)
c.2676-61A>G (n.2676-61A>G)
c.2535-64A>G (n.2535-64A>G)
c.2676-64A>G (n.2676-64A>G)
 gnomAD v4
Xg.100342136T=CA2447955740PCDH19c.2535-61A= (n.2535-61A=)
c.2676-61A= (n.2676-61A=)
c.2535-64A= (n.2535-64A=)
c.2676-64A= (n.2676-64A=)
Xg.100342137G>ACA2694250743PCDH19c.2535-62C>T (n.2535-62C>T)
c.2676-62C>T (n.2676-62C>T)
c.2535-65C>T (n.2535-65C>T)
c.2676-65C>T (n.2676-65C>T)
 gnomAD v4
Xg.100342138A>GCA2694250744PCDH19c.2535-63T>C (n.2535-63T>C)
c.2676-63T>C (n.2676-63T>C)
c.2535-66T>C (n.2535-66T>C)
c.2676-66T>C (n.2676-66T>C)
 gnomAD v4
Xg.100342139G>TCA2694250745PCDH19c.2535-64C>A (n.2535-64C>A)
c.2676-64C>A (n.2676-64C>A)
c.2535-67C>A (n.2535-67C>A)
c.2676-67C>A (n.2676-67C>A)
 gnomAD v4
Xg.100342140C>ACA2694250746PCDH19c.2535-65G>T (n.2535-65G>T)
c.2676-65G>T (n.2676-65G>T)
c.2535-68G>T (n.2535-68G>T)
c.2676-68G>T (n.2676-68G>T)
 gnomAD v4
Xg.100342141delCA2579659199PCDH19c.2535-65del (n.2535-65del)
c.2676-65del (n.2676-65del)
c.2535-68del (n.2535-68del)
c.2676-68del (n.2676-68del)

Number of alleles fetched