UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100408129C>A | CA414009564 | PCDH19 | c.469G>T (p.Asp157Tyr) | |
| X | g.100408129C>G | CA414009565 | PCDH19 | c.469G>C (p.Asp157His) | |
| X | g.100408129C>T | CA414009567 | PCDH19 | c.469G>A (p.Asp157Asn) | |
| X | g.100408130T>A | CA517748659 | PCDH19 | c.468A>T (p.Pro156=) | |
| X | g.100408130T>C | CA517748665 | PCDH19 | c.468A>G (p.Pro156=) | |
| X | g.100408130T>G | CA517748666 | PCDH19 | c.468A>C (p.Pro156=) | |
| X | g.100408131G>A | CA414009569 | PCDH19 | c.467C>T (p.Pro156Leu) | |
| X | g.100408131G>C | CA414009571 | PCDH19 | c.467C>G (p.Pro156Arg) | |
| X | g.100408131G>T | CA414009573 | PCDH19 | c.467C>A (p.Pro156Gln) | |
| X | g.100408132G>A | CA414009579 | PCDH19 | c.466C>T (p.Pro156Ser) | |
| X | g.100408132G>C | CA414009577 | PCDH19 | c.466C>G (p.Pro156Ala) | COSMIC |
| X | g.100408132G>T | CA414009575 | PCDH19 | c.466C>A (p.Pro156Thr) | |
| X | g.100408133A>C | CA414009581 | PCDH19 | c.465T>G (p.Asp155Glu) | |
| X | g.100408133A>G | CA517748676 | PCDH19 | c.465T>C (p.Asp155=) | |
| X | g.100408133A>T | CA414009582 | PCDH19 | c.465T>A (p.Asp155Glu) | |
| X | g.100408134T>A | CA414009585 | PCDH19 | c.464A>T (p.Asp155Val) | |
| X | g.100408134T>C | CA414009586 | PCDH19 | c.464A>G (p.Asp155Gly) | |
| X | g.100408134T>G | CA414009588 | PCDH19 | c.464A>C (p.Asp155Ala) | |
| X | g.100408135C>A | CA414009590 | PCDH19 | c.463G>T (p.Asp155Tyr) | |
| X | g.100408135C= | CA2447977038 | PCDH19 | c.463G= (p.Asp155=) | |
| X | g.100408135C>G | CA414009592 | PCDH19 | c.463G>C (p.Asp155His) | ClinVar dbSNP |
| X | g.100408135C>T | CA316298 | PCDH19 | c.463G>A (p.Asp155Asn) | ClinVar dbSNP COSMIC |
| X | g.100408136G>A | CA517748694 | PCDH19 | c.462C>T (p.Tyr154=) | gnomAD v4 |
| X | g.100408136G>C | CA414009595 | PCDH19 | c.462C>G (p.Tyr154Ter) | ClinVar dbSNP |
| X | g.100408136G= | CA2447977039 | PCDH19 | c.462C= (p.Tyr154=) | |
| X | g.100408136G>T | CA414009597 | PCDH19 | c.462C>A (p.Tyr154Ter) | ClinVar |
| X | g.100408137T>A | CA414009600 | PCDH19 | c.461A>T (p.Tyr154Phe) | |
| X | g.100408137T>C | CA414009602 | PCDH19 | c.461A>G (p.Tyr154Cys) | |
| X | g.100408137T>G | CA414009604 | PCDH19 | c.461A>C (p.Tyr154Ser) | |
| X | g.100408137dup | CA643538113 | PCDH19 | c.461dup (p.Tyr154Ter) | dbSNP gnomAD v2 |
| X | g.100408138A= | CA2447977040 | PCDH19 | c.460T= (p.Tyr154=) | |
| X | g.100408138A>C | CA414009610 | PCDH19 | c.460T>G (p.Tyr154Asp) | |
| X | g.100408138A>G | CA414009608 | PCDH19 | c.460T>C (p.Tyr154His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408138A>T | CA414009606 | PCDH19 | c.460T>A (p.Tyr154Asn) | |
| X | g.100408139A= | CA2447977041 | PCDH19 | c.459T= (p.Ala153=) | |
| X | g.100408139A>C | CA517748700 | PCDH19 | c.459T>G (p.Ala153=) | |
| X | g.100408139A>G | CA517748702 | PCDH19 | c.459T>C (p.Ala153=) | dbSNP gnomAD v4 |
| X | g.100408139A>T | CA517748704 | PCDH19 | c.459T>A (p.Ala153=) | |
| X | g.100408140G>A | CA414009614 | PCDH19 | c.458C>T (p.Ala153Val) | |
| X | g.100408140G>C | CA414009612 | PCDH19 | c.458C>G (p.Ala153Gly) | |
| X | g.100408140G>T | CA414009617 | PCDH19 | c.458C>A (p.Ala153Asp) | |
| X | g.100408140_100408141delinsAT | CA278967 | PCDH19 | c.457_458delinsAT (p.Ala153Ile) | ClinVar dbSNP |
| X | g.100408140_100408141delinsGC | CA2447977042 | PCDH19 | c.457_458delinsGC (p.Ala153=) | |
| X | g.100408141C>A | CA414009619 | PCDH19 | c.457G>T (p.Ala153Ser) | |
| X | g.100408141C>G | CA414009622 | PCDH19 | c.457G>C (p.Ala153Pro) | |
| X | g.100408141C>T | CA414009621 | PCDH19 | c.457G>A (p.Ala153Thr) | |
| X | g.100408142G>A | CA10468989 | PCDH19 | c.456C>T (p.Ser152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408142G>C | CA414009625 | PCDH19 | c.456C>G (p.Ser152Arg) | gnomAD v4 |
| X | g.100408142G= | CA2447977043 | PCDH19 | c.456C= (p.Ser152=) | |
| X | g.100408142G>T | CA414009627 | PCDH19 | c.456C>A (p.Ser152Arg) | |
| X | g.100408143C>A | CA414009629 | PCDH19 | c.455G>T (p.Ser152Ile) | |
| X | g.100408143C>G | CA414009631 | PCDH19 | c.455G>C (p.Ser152Thr) | |
| X | g.100408143C>T | CA414009633 | PCDH19 | c.455G>A (p.Ser152Asn) | |
| X | g.100408144T>A | CA414009635 | PCDH19 | c.454A>T (p.Ser152Cys) | |
| X | g.100408144T>C | CA414009636 | PCDH19 | c.454A>G (p.Ser152Gly) | |
| X | g.100408144T>G | CA414009638 | PCDH19 | c.454A>C (p.Ser152Arg) | |
| X | g.100408145G>A | CA517748724 | PCDH19 | c.453C>T (p.Asp151=) | |
| X | g.100408145G>C | CA414009641 | PCDH19 | c.453C>G (p.Asp151Glu) | |
| X | g.100408145G>T | CA414009642 | PCDH19 | c.453C>A (p.Asp151Glu) | gnomAD v4 |
| X | g.100408146T>A | CA414009648 | PCDH19 | c.452A>T (p.Asp151Val) | |
| X | g.100408146T>C | CA414009646 | PCDH19 | c.452A>G (p.Asp151Gly) | |
| X | g.100408146T>G | CA414009645 | PCDH19 | c.452A>C (p.Asp151Ala) | |
| X | g.100408147C>A | CA414009651 | PCDH19 | c.451G>T (p.Asp151Tyr) | |
| X | g.100408147C>G | CA414009652 | PCDH19 | c.451G>C (p.Asp151His) | gnomAD v4 |
| X | g.100408147C>T | CA414009654 | PCDH19 | c.451G>A (p.Asp151Asn) | |
| X | g.100408148C>A | CA517748728 | PCDH19 | c.450G>T (p.Leu150=) | |
| X | g.100408148C>G | CA517748730 | PCDH19 | c.450G>C (p.Leu150=) | |
| X | g.100408148C>T | CA517748736 | PCDH19 | c.450G>A (p.Leu150=) | |
| X | g.100408148_100408153dup | CA2695234738 | PCDH19 | c.445_450dup (p.Leu150_Asp151insProLeu) | |
| X | g.100408149A>C | CA414009656 | PCDH19 | c.449T>G (p.Leu150Arg) | |
| X | g.100408149A>G | CA414009658 | PCDH19 | c.449T>C (p.Leu150Pro) | COSMIC |
| X | g.100408149A>T | CA414009660 | PCDH19 | c.449T>A (p.Leu150Gln) | |
| X | g.100408150G>A | CA517748739 | PCDH19 | c.448C>T (p.Leu150=) | |
| X | g.100408150G>C | CA414009661 | PCDH19 | c.448C>G (p.Leu150Val) | |
| X | g.100408150G>T | CA414009662 | PCDH19 | c.448C>A (p.Leu150Met) | |
| X | g.100408151C>A | CA517748747 | PCDH19 | c.447G>T (p.Pro149=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408151C= | CA2447977044 | PCDH19 | c.447G= (p.Pro149=) | |
| X | g.100408151C>G | CA517748752 | PCDH19 | c.447G>C (p.Pro149=) | |
| X | g.100408151C>T | CA517748744 | PCDH19 | c.447G>A (p.Pro149=) | |
| X | g.100408152G>A | CA414009665 | PCDH19 | c.446C>T (p.Pro149Leu) | gnomAD v4 COSMIC |
| X | g.100408152G>C | CA414009666 | PCDH19 | c.446C>G (p.Pro149Arg) | |
| X | g.100408152G>T | CA414009668 | PCDH19 | c.446C>A (p.Pro149Gln) | |
| X | g.100408153G>A | CA414009674 | PCDH19 | c.445C>T (p.Pro149Ser) | ClinVar dbSNP |
| X | g.100408153G>C | CA414009672 | PCDH19 | c.445C>G (p.Pro149Ala) | ClinVar dbSNP |
| X | g.100408153G= | CA2447977045 | PCDH19 | c.445C= (p.Pro149=) | |
| X | g.100408153G>T | CA414009670 | PCDH19 | c.445C>A (p.Pro149Thr) | |
| X | g.100408154G>A | CA10468990 | PCDH19 | c.444C>T (p.Ile148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408154G>C | CA414009677 | PCDH19 | c.444C>G (p.Ile148Met) | ClinVar dbSNP |
| X | g.100408154G= | CA2447977046 | PCDH19 | c.444C= (p.Ile148=) | |
| X | g.100408154G>T | CA517748761 | PCDH19 | c.444C>A (p.Ile148=) | |
| X | g.100408155A>C | CA414009679 | PCDH19 | c.443T>G (p.Ile148Ser) | |
| X | g.100408155A>G | CA414009681 | PCDH19 | c.443T>C (p.Ile148Thr) | |
| X | g.100408155A>T | CA414009683 | PCDH19 | c.443T>A (p.Ile148Asn) | |
| X | g.100408156T>A | CA414009685 | PCDH19 | c.442A>T (p.Ile148Phe) | |
| X | g.100408156T>C | CA414009687 | PCDH19 | c.442A>G (p.Ile148Val) | |
| X | g.100408156T>G | CA414009689 | PCDH19 | c.442A>C (p.Ile148Leu) | |
| X | g.100408157G>A | CA517748767 | PCDH19 | c.441C>T (p.Arg147=) | |
| X | g.100408157G>C | CA517748768 | PCDH19 | c.441C>G (p.Arg147=) | |
| X | g.100408157G>T | CA517748769 | PCDH19 | c.441C>A (p.Arg147=) | |
| X | g.100408158C>A | CA414009691 | PCDH19 | c.440G>T (p.Arg147Leu) | |
| X | g.100408158C= | CA2447977047 | PCDH19 | c.440G= (p.Arg147=) | |
| X | g.100408158C>G | CA414009693 | PCDH19 | c.440G>C (p.Arg147Pro) | |
| X | g.100408158C>T | CA333826097 | PCDH19 | c.440G>A (p.Arg147His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408159G>A | CA414009696 | PCDH19 | c.439C>T (p.Arg147Cys) | ClinVar gnomAD v4 COSMIC |
| X | g.100408159G>C | CA414009697 | PCDH19 | c.439C>G (p.Arg147Gly) | |
| X | g.100408159G>T | CA414009698 | PCDH19 | c.439C>A (p.Arg147Ser) | |
| X | g.100408160C>A | CA517748775 | PCDH19 | c.438G>T (p.Thr146=) | |
| X | g.100408160C= | CA2447977048 | PCDH19 | c.438G= (p.Thr146=) | |
| X | g.100408160C>G | CA10468991 | PCDH19 | c.438G>C (p.Thr146=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.100408160C>T | CA517748777 | PCDH19 | c.438G>A (p.Thr146=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408161G>A | CA414009702 | PCDH19 | c.437C>T (p.Thr146Met) | ClinVar gnomAD v4 COSMIC |
| X | g.100408161G>C | CA316296 | PCDH19 | c.437C>G (p.Thr146Arg) | ClinVar dbSNP |
| X | g.100408161G= | CA2447977049 | PCDH19 | c.437C= (p.Thr146=) | |
| X | g.100408161G>T | CA414009704 | PCDH19 | c.437C>A (p.Thr146Lys) | ClinVar dbSNP |
| X | g.100408162T>A | CA414009706 | PCDH19 | c.436A>T (p.Thr146Ser) | |
| X | g.100408162T>C | CA414009708 | PCDH19 | c.436A>G (p.Thr146Ala) | |
| X | g.100408162T>G | CA414009710 | PCDH19 | c.436A>C (p.Thr146Pro) | |
| X | g.100408163G>A | CA517748786 | PCDH19 | c.435C>T (p.Gly145=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408163G>C | CA517748784 | PCDH19 | c.435C>G (p.Gly145=) | |
| X | g.100408163G= | CA2447977050 | PCDH19 | c.435C= (p.Gly145=) | |
| X | g.100408163G>T | CA517748788 | PCDH19 | c.435C>A (p.Gly145=) | |
| X | g.100408164C>A | CA414009712 | PCDH19 | c.434G>T (p.Gly145Val) | |
| X | g.100408164C>G | CA414009714 | PCDH19 | c.434G>C (p.Gly145Ala) | |
| X | g.100408164C>T | CA414009716 | PCDH19 | c.434G>A (p.Gly145Asp) | |
| X | g.100408165dup | CA2695234739 | PCDH19 | c.434dup (p.Thr146HisfsTer?) | |
| X | g.100408165C>A | CA414009719 | PCDH19 | c.433G>T (p.Gly145Cys) | |
| X | g.100408165C>G | CA414009720 | PCDH19 | c.433G>C (p.Gly145Arg) | |
| X | g.100408165C>T | CA414009722 | PCDH19 | c.433G>A (p.Gly145Ser) | gnomAD v4 COSMIC |
| X | g.100408166A>C | CA517748795 | PCDH19 | c.432T>G (p.Pro144=) | |
| X | g.100408166A>G | CA517748796 | PCDH19 | c.432T>C (p.Pro144=) | |
| X | g.100408166A>T | CA517748797 | PCDH19 | c.432T>A (p.Pro144=) | |
| X | g.100408167G>A | CA414009727 | PCDH19 | c.431C>T (p.Pro144Leu) | |
| X | g.100408167G>C | CA414009726 | PCDH19 | c.431C>G (p.Pro144Arg) | |
| X | g.100408167G>T | CA414009724 | PCDH19 | c.431C>A (p.Pro144His) | ClinVar COSMIC |
| X | g.100408168G>A | CA414009730 | PCDH19 | c.430C>T (p.Pro144Ser) | |
| X | g.100408168G>C | CA414009734 | PCDH19 | c.430C>G (p.Pro144Ala) | |
| X | g.100408168G>T | CA414009732 | PCDH19 | c.430C>A (p.Pro144Thr) | |
| X | g.100408169G>A | CA517748804 | PCDH19 | c.429C>T (p.Ser143=) | |
| X | g.100408169G>C | CA414009736 | PCDH19 | c.429C>G (p.Ser143Arg) | |
| X | g.100408169G>T | CA414009738 | PCDH19 | c.429C>A (p.Ser143Arg) | |
| X | g.100408170C>A | CA414009740 | PCDH19 | c.428G>T (p.Ser143Ile) | COSMIC |
| X | g.100408170C>G | CA414009742 | PCDH19 | c.428G>C (p.Ser143Thr) | |
| X | g.100408170C>T | CA414009744 | PCDH19 | c.428G>A (p.Ser143Asn) | |
| X | g.100408171T>A | CA414009745 | PCDH19 | c.427A>T (p.Ser143Cys) | |
| X | g.100408171T>C | CA414009747 | PCDH19 | c.427A>G (p.Ser143Gly) | |
| X | g.100408171T>G | CA414009749 | PCDH19 | c.427A>C (p.Ser143Arg) | dbSNP |
| X | g.100408171T= | CA2447977051 | PCDH19 | c.427A= (p.Ser143=) | |
| X | g.100408172G>A | CA517748812 | PCDH19 | c.426C>T (p.Ala142=) | |
| X | g.100408172G>C | CA517748813 | PCDH19 | c.426C>G (p.Ala142=) | |
| X | g.100408172G>T | CA517748815 | PCDH19 | c.426C>A (p.Ala142=) | |
| X | g.100408173G>A | CA414009751 | PCDH19 | c.425C>T (p.Ala142Val) | |
| X | g.100408173G>C | CA414009753 | PCDH19 | c.425C>G (p.Ala142Gly) | |
| X | g.100408173G>T | CA414009755 | PCDH19 | c.425C>A (p.Ala142Asp) | |
| X | g.100408174del | CA2695234740 | PCDH19 | c.424del (p.Ala142ProfsTer?) | |
| X | g.100408174C>A | CA414009760 | PCDH19 | c.424G>T (p.Ala142Ser) | |
| X | g.100408174C= | CA2447977052 | PCDH19 | c.424G= (p.Ala142=) | |
| X | g.100408174C>G | CA316293 | PCDH19 | c.424G>C (p.Ala142Pro) | ClinVar dbSNP |
| X | g.100408174C>T | CA414009758 | PCDH19 | c.424G>A (p.Ala142Thr) | |
| X | g.100408175T>A | CA517748823 | PCDH19 | c.423A>T (p.Ala141=) | |
| X | g.100408175T>C | CA517748824 | PCDH19 | c.423A>G (p.Ala141=) | |
| X | g.100408175T>G | CA517748825 | PCDH19 | c.423A>C (p.Ala141=) | |
| X | g.100408175_100408183dup | CA2695234741 | PCDH19 | c.415_423dup (p.Ala141_Ala142insSerGluAla) | |
| X | g.100408176G>A | CA414009762 | PCDH19 | c.422C>T (p.Ala141Val) | |
| X | g.100408176G>C | CA414009764 | PCDH19 | c.422C>G (p.Ala141Gly) | |
| X | g.100408176G>T | CA414009766 | PCDH19 | c.422C>A (p.Ala141Glu) | |
| X | g.100408177C>A | CA414009768 | PCDH19 | c.421G>T (p.Ala141Ser) | |
| X | g.100408177C>G | CA414009770 | PCDH19 | c.421G>C (p.Ala141Pro) | |
| X | g.100408177C>T | CA414009772 | PCDH19 | c.421G>A (p.Ala141Thr) | |
| X | g.100408178C>A | CA414009774 | PCDH19 | c.420G>T (p.Glu140Asp) | |
| X | g.100408178C>G | CA414009776 | PCDH19 | c.420G>C (p.Glu140Asp) | |
| X | g.100408178C>T | CA517748835 | PCDH19 | c.420G>A (p.Glu140=) | |
| X | g.100408179T>A | CA414009779 | PCDH19 | c.419A>T (p.Glu140Val) | |
| X | g.100408179T>C | CA414009780 | PCDH19 | c.419A>G (p.Glu140Gly) | ClinVar dbSNP |
| X | g.100408179T>G | CA414009782 | PCDH19 | c.419A>C (p.Glu140Ala) | |
| X | g.100408179T= | CA2447977053 | PCDH19 | c.419A= (p.Glu140=) | |
| X | g.100408180C>A | CA414009786 | PCDH19 | c.418G>T (p.Glu140Ter) | |
| X | g.100408180C>G | CA414009787 | PCDH19 | c.418G>C (p.Glu140Gln) | ClinVar |
| X | g.100408180C>T | CA414009784 | PCDH19 | c.418G>A (p.Glu140Lys) | ClinVar |
| X | g.100408181C>A | CA517748845 | PCDH19 | c.417G>T (p.Ser139=) | |
| X | g.100408181C= | CA2447977054 | PCDH19 | c.417G= (p.Ser139=) | |
| X | g.100408181C>G | CA333826098 | PCDH19 | c.417G>C (p.Ser139=) | dbSNP |
| X | g.100408181C>T | CA517748849 | PCDH19 | c.417G>A (p.Ser139=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.100408181_100408182dup | CA2695234742 | PCDH19 | c.416_417dup (p.Glu140ArgfsTer?) | |
| X | g.100408182G>A | CA414009791 | PCDH19 | c.416C>T (p.Ser139Leu) | ClinVar dbSNP |
| X | g.100408182G>C | CA414009793 | PCDH19 | c.416C>G (p.Ser139Trp) | |
| X | g.100408182G= | CA2447977055 | PCDH19 | c.416C= (p.Ser139=) | |
| X | g.100408182G>T | CA414009795 | PCDH19 | c.416C>A (p.Ser139Ter) | |
| X | g.100408183A>C | CA414009797 | PCDH19 | c.415T>G (p.Ser139Ala) | |
| X | g.100408183A>G | CA414009799 | PCDH19 | c.415T>C (p.Ser139Pro) | |
| X | g.100408183A>T | CA414009801 | PCDH19 | c.415T>A (p.Ser139Thr) | |
| X | g.100408184G>A | CA517748859 | PCDH19 | c.414C>T (p.Ile138=) | |
| X | g.100408184G>C | CA414009803 | PCDH19 | c.414C>G (p.Ile138Met) | |
| X | g.100408184G>T | CA517748857 | PCDH19 | c.414C>A (p.Ile138=) | |
| X | g.100408185A= | CA2447977056 | PCDH19 | c.413T= (p.Ile138=) | |
| X | g.100408185A>C | CA414009806 | PCDH19 | c.413T>G (p.Ile138Ser) | |
| X | g.100408185A>G | CA414009807 | PCDH19 | c.413T>C (p.Ile138Thr) | |
| X | g.100408185A>T | CA414009809 | PCDH19 | c.413T>A (p.Ile138Asn) | ClinVar dbSNP |
| X | g.100408186T>A | CA414009811 | PCDH19 | c.412A>T (p.Ile138Phe) | |
| X | g.100408186T>C | CA414009813 | PCDH19 | c.412A>G (p.Ile138Val) | |
| X | g.100408186T>G | CA414009815 | PCDH19 | c.412A>C (p.Ile138Leu) | |
| X | g.100408187C>A | CA414009819 | PCDH19 | c.411G>T (p.Glu137Asp) | |
| X | g.100408187C>G | CA414009817 | PCDH19 | c.411G>C (p.Glu137Asp) | |
| X | g.100408187C>T | CA517748869 | PCDH19 | c.411G>A (p.Glu137=) | |
| X | g.100408188T>A | CA414009821 | PCDH19 | c.410A>T (p.Glu137Val) | |
| X | g.100408188T>C | CA414009823 | PCDH19 | c.410A>G (p.Glu137Gly) | |
| X | g.100408188T>G | CA414009825 | PCDH19 | c.410A>C (p.Glu137Ala) | |
| X | g.100408189C>A | CA414009827 | PCDH19 | c.409G>T (p.Glu137Ter) | ClinVar dbSNP |
| X | g.100408189C= | CA2447977057 | PCDH19 | c.409G= (p.Glu137=) | |
| X | g.100408189C>G | CA414009829 | PCDH19 | c.409G>C (p.Glu137Gln) | |
| X | g.100408189C>T | CA414009831 | PCDH19 | c.409G>A (p.Glu137Lys) | |
| X | g.100408190C>A | CA517748879 | PCDH19 | c.408G>T (p.Leu136=) | |
| X | g.100408190C>G | CA517748881 | PCDH19 | c.408G>C (p.Leu136=) | |
| X | g.100408190C>T | CA517748884 | PCDH19 | c.408G>A (p.Leu136=) | |
| X | g.100408191_100408193dup | CA10606048 | PCDH19 | c.406_408dup (p.Leu136_Glu137insLeu) | ClinVar dbSNP |
| X | g.100408191A>C | CA414009835 | PCDH19 | c.407T>G (p.Leu136Arg) | |
| X | g.100408191A>G | CA414009836 | PCDH19 | c.407T>C (p.Leu136Pro) | |
| X | g.100408191A>T | CA414009837 | PCDH19 | c.407T>A (p.Leu136Gln) | |
| X | g.100408192G>A | CA517748887 | PCDH19 | c.406C>T (p.Leu136=) | |
| X | g.100408192G>C | CA414009840 | PCDH19 | c.406C>G (p.Leu136Val) | |
| X | g.100408192G>T | CA414009841 | PCDH19 | c.406C>A (p.Leu136Met) | |
| X | g.100408193C>A | CA414009843 | PCDH19 | c.405G>T (p.Glu135Asp) | |
| X | g.100408193C= | CA2447977058 | PCDH19 | c.405G= (p.Glu135=) | |
| X | g.100408193C>G | CA414009845 | PCDH19 | c.405G>C (p.Glu135Asp) | |
| X | g.100408193C>T | CA517748890 | PCDH19 | c.405G>A (p.Glu135=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408194T>A | CA414009849 | PCDH19 | c.404A>T (p.Glu135Val) | |
| X | g.100408194T>C | CA414009851 | PCDH19 | c.404A>G (p.Glu135Gly) | |
| X | g.100408194T>G | CA414009847 | PCDH19 | c.404A>C (p.Glu135Ala) | |
| X | g.100408195C>A | CA414009854 | PCDH19 | c.403G>T (p.Glu135Ter) | ClinVar dbSNP |
| X | g.100408195C= | CA2447977059 | PCDH19 | c.403G= (p.Glu135=) | |
| X | g.100408195C>G | CA10468992 | PCDH19 | c.403G>C (p.Glu135Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408195C>T | CA414009856 | PCDH19 | c.403G>A (p.Glu135Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408196G>A | CA517748893 | PCDH19 | c.402C>T (p.Ile134=) | |
| X | g.100408196G>C | CA333826099 | PCDH19 | c.402C>G (p.Ile134Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408196G= | CA2447977060 | PCDH19 | c.402C= (p.Ile134=) | |
| X | g.100408196G>T | CA285467 | PCDH19 | c.402C>A (p.Ile134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408197A>C | CA414009862 | PCDH19 | c.401T>G (p.Ile134Ser) | |
| X | g.100408197A>G | CA414009865 | PCDH19 | c.401T>C (p.Ile134Thr) | |
| X | g.100408197A>T | CA414009864 | PCDH19 | c.401T>A (p.Ile134Asn) | |
| X | g.100408198T>A | CA414009867 | PCDH19 | c.400A>T (p.Ile134Phe) | |
| X | g.100408198T>C | CA414009871 | PCDH19 | c.400A>G (p.Ile134Val) | |
| X | g.100408198T>G | CA414009869 | PCDH19 | c.400A>C (p.Ile134Leu) | |
| X | g.100408199C>A | CA414009873 | PCDH19 | c.399G>T (p.Gln133His) | |
| X | g.100408199C>G | CA414009876 | PCDH19 | c.399G>C (p.Gln133His) | |
| X | g.100408199C>T | CA517748896 | PCDH19 | c.399G>A (p.Gln133=) | |
| X | g.100408200T>A | CA414009878 | PCDH19 | c.398A>T (p.Gln133Leu) | |
| X | g.100408200T>C | CA414009879 | PCDH19 | c.398A>G (p.Gln133Arg) | |
| X | g.100408200T>G | CA414009882 | PCDH19 | c.398A>C (p.Gln133Pro) | |
| X | g.100408201G>A | CA414009884 | PCDH19 | c.397C>T (p.Gln133Ter) | |
| X | g.100408201G>C | CA414009886 | PCDH19 | c.397C>G (p.Gln133Glu) | |
| X | g.100408201G>T | CA414009888 | PCDH19 | c.397C>A (p.Gln133Lys) | |
| X | g.100408202T>A | CA517748901 | PCDH19 | c.396A>T (p.Ala132=) | |
| X | g.100408202T>C | CA517748903 | PCDH19 | c.396A>G (p.Ala132=) | |
| X | g.100408202T>G | CA517748905 | PCDH19 | c.396A>C (p.Ala132=) | |
| X | g.100408203G>A | CA414009891 | PCDH19 | c.395C>T (p.Ala132Val) | |
| X | g.100408203G>C | CA414009893 | PCDH19 | c.395C>G (p.Ala132Gly) | |
| X | g.100408203G>T | CA414009894 | PCDH19 | c.395C>A (p.Ala132Glu) | COSMIC |
| X | g.100408203_100408214delinsGCTGCCGGGAAA | CA2447977061 | PCDH19 | c.384_395delinsTTTCCCGGCAGC (p.Ser128=) | |
| X | g.100408204C>A | CA414009900 | PCDH19 | c.394G>T (p.Ala132Ser) | gnomAD v4 |
| X | g.100408204C>G | CA414009896 | PCDH19 | c.394G>C (p.Ala132Pro) | |
| X | g.100408204C>T | CA414009898 | PCDH19 | c.394G>A (p.Ala132Thr) | |
| X | g.100408207_100408217del | CA1139667697 | PCDH19 | c.384_394del (p.Phe129ThrfsTer?) | ClinVar dbSNP |
| X | g.100408205T>A | CA517748913 | PCDH19 | c.393A>T (p.Ala131=) | COSMIC |
| X | g.100408205T>C | CA517748910 | PCDH19 | c.393A>G (p.Ala131=) | |
| X | g.100408205T>G | CA517748911 | PCDH19 | c.393A>C (p.Ala131=) | |
| X | g.100408206G>A | CA414009902 | PCDH19 | c.392C>T (p.Ala131Val) | |
| X | g.100408206G>C | CA414009904 | PCDH19 | c.392C>G (p.Ala131Gly) | |
| X | g.100408206G>T | CA414009906 | PCDH19 | c.392C>A (p.Ala131Glu) | |
| X | g.100408207C>A | CA414009908 | PCDH19 | c.391G>T (p.Ala131Ser) | |
| X | g.100408207C>G | CA414009910 | PCDH19 | c.391G>C (p.Ala131Pro) | |
| X | g.100408207C>T | CA414009912 | PCDH19 | c.391G>A (p.Ala131Thr) | |
| X | g.100408208C>A | CA517748915 | PCDH19 | c.390G>T (p.Pro130=) | |
| X | g.100408208C= | CA2447977062 | PCDH19 | c.390G= (p.Pro130=) | |
| X | g.100408208C>G | CA517748917 | PCDH19 | c.390G>C (p.Pro130=) | |
| X | g.100408208C>T | CA10468993 | PCDH19 | c.390G>A (p.Pro130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.100408209G>A | CA414009916 | PCDH19 | c.389C>T (p.Pro130Leu) | gnomAD v3 gnomAD v4 |
| X | g.100408209G>C | CA414009918 | PCDH19 | c.389C>G (p.Pro130Arg) | |
| X | g.100408209G>T | CA414009919 | PCDH19 | c.389C>A (p.Pro130Gln) | |
| X | g.100408210G>A | CA414009924 | PCDH19 | c.388C>T (p.Pro130Ser) | |
| X | g.100408210G>C | CA414009926 | PCDH19 | c.388C>G (p.Pro130Ala) | |
| X | g.100408210G>T | CA414009922 | PCDH19 | c.388C>A (p.Pro130Thr) | |
| X | g.100408211G>A | CA517748925 | PCDH19 | c.387C>T (p.Phe129=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408211G>C | CA414009928 | PCDH19 | c.387C>G (p.Phe129Leu) | |
| X | g.100408211G= | CA2447977063 | PCDH19 | c.387C= (p.Phe129=) | |
| X | g.100408211G>T | CA414010077 | PCDH19 | c.387C>A (p.Phe129Leu) | ClinVar dbSNP |
| X | g.100408212A= | CA2447977064 | PCDH19 | c.386T= (p.Phe129=) | |
| X | g.100408212A>C | CA414010138 | PCDH19 | c.386T>G (p.Phe129Cys) | |
| X | g.100408212A>G | CA414010141 | PCDH19 | c.386T>C (p.Phe129Ser) | ClinVar dbSNP |
| X | g.100408212A>T | CA414010146 | PCDH19 | c.386T>A (p.Phe129Tyr) | |
| X | g.100408213A>C | CA414010159 | PCDH19 | c.385T>G (p.Phe129Val) | |
| X | g.100408213A>G | CA414010152 | PCDH19 | c.385T>C (p.Phe129Leu) | |
| X | g.100408213A>T | CA414010156 | PCDH19 | c.385T>A (p.Phe129Ile) | |
| X | g.100408214A>C | CA414010164 | PCDH19 | c.384T>G (p.Ser128Arg) | |
| X | g.100408214A>G | CA517748931 | PCDH19 | c.384T>C (p.Ser128=) | |
| X | g.100408214A>T | CA414010166 | PCDH19 | c.384T>A (p.Ser128Arg) | |
| X | g.100408215C>A | CA414010171 | PCDH19 | c.383G>T (p.Ser128Ile) | |
| X | g.100408215C>G | CA414010173 | PCDH19 | c.383G>C (p.Ser128Thr) | |
| X | g.100408215C>T | CA414010175 | PCDH19 | c.383G>A (p.Ser128Asn) | |
| X | g.100408216T>A | CA414010180 | PCDH19 | c.382A>T (p.Ser128Cys) | |
| X | g.100408216T>C | CA10468994 | PCDH19 | c.382A>G (p.Ser128Gly) | dbSNP ExAC gnomAD v2 COSMIC |
| X | g.100408216T>G | CA414010183 | PCDH19 | c.382A>C (p.Ser128Arg) | |
| X | g.100408216T= | CA2447977065 | PCDH19 | c.382A= (p.Ser128=) | |
| X | g.100408217G>A | CA517748935 | PCDH19 | c.381C>T (p.Pro127=) | gnomAD v4 |
| X | g.100408217G>C | CA517748936 | PCDH19 | c.381C>G (p.Pro127=) | |
| X | g.100408217G>T | CA517748937 | PCDH19 | c.381C>A (p.Pro127=) | |
| X | g.100408218G>A | CA414010191 | PCDH19 | c.380C>T (p.Pro127Leu) | ClinVar dbSNP |
| X | g.100408218G>C | CA414010194 | PCDH19 | c.380C>G (p.Pro127Arg) | |
| X | g.100408218G>T | CA414010196 | PCDH19 | c.380C>A (p.Pro127His) | |
| X | g.100408219G>A | CA414010199 | PCDH19 | c.379C>T (p.Pro127Ser) | ClinVar dbSNP |
| X | g.100408219G>C | CA414010202 | PCDH19 | c.379C>G (p.Pro127Ala) | |
| X | g.100408219G= | CA2447977066 | PCDH19 | c.379C= (p.Pro127=) | |
| X | g.100408219G>T | CA414010205 | PCDH19 | c.379C>A (p.Pro127Thr) | |
| X | g.100408221_100408222dup | CA2739273667 | PCDH19 | c.378_379dup (p.Pro127ArgfsTer?) | ClinVar |
| X | g.100408220C>A | CA517748940 | PCDH19 | c.378G>T (p.Ala126=) | |
| X | g.100408220C>G | CA517748938 | PCDH19 | c.378G>C (p.Ala126=) | |
| X | g.100408220C>T | CA517748939 | PCDH19 | c.378G>A (p.Ala126=) | ClinVar gnomAD v4 COSMIC |
| X | g.100408221G>A | CA414010208 | PCDH19 | c.377C>T (p.Ala126Val) | COSMIC |
| X | g.100408221G>C | CA414010210 | PCDH19 | c.377C>G (p.Ala126Gly) | |
| X | g.100408221G>T | CA414010213 | PCDH19 | c.377C>A (p.Ala126Glu) | |
| X | g.100408222C>A | CA414010217 | PCDH19 | c.376G>T (p.Ala126Ser) | |
| X | g.100408222C>G | CA414010220 | PCDH19 | c.376G>C (p.Ala126Pro) | |
| X | g.100408222C>T | CA414010221 | PCDH19 | c.376G>A (p.Ala126Thr) | |
| X | g.100408223A>C | CA414010225 | PCDH19 | c.375T>G (p.Asn125Lys) | |
| X | g.100408223A>G | CA517748942 | PCDH19 | c.375T>C (p.Asn125=) | gnomAD v4 |
| X | g.100408223A>T | CA414010230 | PCDH19 | c.375T>A (p.Asn125Lys) | |
| X | g.100408224T>A | CA414010239 | PCDH19 | c.374A>T (p.Asn125Ile) | |
| X | g.100408224T>C | CA221632 | PCDH19 | c.374A>G (p.Asn125Ser) | ClinVar dbSNP |
| X | g.100408224T>G | CA414010244 | PCDH19 | c.374A>C (p.Asn125Thr) | |
| X | g.100408224T= | CA2447977067 | PCDH19 | c.374A= (p.Asn125=) | |
| X | g.100408225T>A | CA414010249 | PCDH19 | c.373A>T (p.Asn125Tyr) | |
| X | g.100408225T>C | CA414010252 | PCDH19 | c.373A>G (p.Asn125Asp) | |
| X | g.100408225T>G | CA414010255 | PCDH19 | c.373A>C (p.Asn125His) | |
| X | g.100408226_100408227dup | CA891843597 | PCDH19 | c.372_373dup (p.Asn125ThrfsTer?) | ClinVar dbSNP |
| X | g.100408226G>A | CA517748946 | PCDH19 | c.372C>T (p.Asp124=) | |
| X | g.100408226G>C | CA414010259 | PCDH19 | c.372C>G (p.Asp124Glu) | |
| X | g.100408226G>T | CA414010262 | PCDH19 | c.372C>A (p.Asp124Glu) | |
| X | g.100408227T>A | CA414010265 | PCDH19 | c.371A>T (p.Asp124Val) | |
| X | g.100408227T>C | CA414010267 | PCDH19 | c.371A>G (p.Asp124Gly) | |
| X | g.100408227T>G | CA414010270 | PCDH19 | c.371A>C (p.Asp124Ala) | ClinVar dbSNP |
| X | g.100408228C>A | CA316290 | PCDH19 | c.370G>T (p.Asp124Tyr) | ClinVar dbSNP COSMIC |
| X | g.100408228C= | CA2447977068 | PCDH19 | c.370G= (p.Asp124=) | |
| X | g.100408228C>G | CA414010276 | PCDH19 | c.370G>C (p.Asp124His) | ClinVar dbSNP |
| X | g.100408228C>T | CA414010280 | PCDH19 | c.370G>A (p.Asp124Asn) | |
| X | g.100408229G>A | CA333826100 | PCDH19 | c.369C>T (p.Asn123=) | dbSNP gnomAD v4 COSMIC |
| X | g.100408229G>C | CA414010286 | PCDH19 | c.369C>G (p.Asn123Lys) | ClinVar dbSNP |
| X | g.100408229G= | CA2447977069 | PCDH19 | c.369C= (p.Asn123=) | |
| X | g.100408229G>T | CA316287 | PCDH19 | c.369C>A (p.Asn123Lys) | ClinVar dbSNP |