| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100341960C>A | CA413999908 | PCDH19 | c.2650G>T (p.Val884Phe) c.2791G>T (p.Val931Phe) c.2647G>T (p.Val883Phe) c.2788G>T (p.Val930Phe) | |
| X | g.100341960C>G | CA413999909 | PCDH19 | c.2650G>C (p.Val884Leu) c.2791G>C (p.Val931Leu) c.2647G>C (p.Val883Leu) c.2788G>C (p.Val930Leu) | |
| X | g.100341960C>T | CA413999911 | PCDH19 | c.2650G>A (p.Val884Ile) c.2791G>A (p.Val931Ile) c.2647G>A (p.Val883Ile) c.2788G>A (p.Val930Ile) | |
| X | g.100341961A= | CA2447955676 | PCDH19 | c.2649T= (p.Ala883=) c.2790T= (p.Ala930=) c.2646T= (p.Ala882=) c.2787T= (p.Ala929=) | |
| X | g.100341961A>C | CA517696744 | PCDH19 | c.2649T>G (p.Ala883=) c.2790T>G (p.Ala930=) c.2646T>G (p.Ala882=) c.2787T>G (p.Ala929=) | |
| X | g.100341961A>G | CA10468708 | PCDH19 | c.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 |
| X | g.100341961A>T | CA517696747 | PCDH19 | c.2649T>A (p.Ala883=) c.2790T>A (p.Ala930=) c.2646T>A (p.Ala882=) c.2787T>A (p.Ala929=) | |
| X | g.100341962G>A | CA413999914 | PCDH19 | c.2648C>T (p.Ala883Val) c.2789C>T (p.Ala930Val) c.2645C>T (p.Ala882Val) c.2786C>T (p.Ala929Val) | |
| X | g.100341962G>C | CA413999916 | PCDH19 | c.2648C>G (p.Ala883Gly) c.2789C>G (p.Ala930Gly) c.2645C>G (p.Ala882Gly) c.2786C>G (p.Ala929Gly) | |
| X | g.100341962G>T | CA413999918 | PCDH19 | c.2648C>A (p.Ala883Asp) c.2789C>A (p.Ala930Asp) c.2645C>A (p.Ala882Asp) c.2786C>A (p.Ala929Asp) | gnomAD v4 |
| X | g.100341963C>A | CA413999919 | PCDH19 | c.2647G>T (p.Ala883Ser) c.2788G>T (p.Ala930Ser) c.2644G>T (p.Ala882Ser) c.2785G>T (p.Ala929Ser) | |
| X | g.100341963C>G | CA413999921 | PCDH19 | c.2647G>C (p.Ala883Pro) c.2788G>C (p.Ala930Pro) c.2644G>C (p.Ala882Pro) c.2785G>C (p.Ala929Pro) | |
| X | g.100341963C>T | CA413999923 | PCDH19 | c.2647G>A (p.Ala883Thr) c.2788G>A (p.Ala930Thr) c.2644G>A (p.Ala882Thr) c.2785G>A (p.Ala929Thr) | dbSNP |
| X | g.100341964A>C | CA517696755 | PCDH19 | c.2646T>G (p.Thr882=) c.2787T>G (p.Thr929=) c.2643T>G (p.Thr881=) c.2784T>G (p.Thr928=) | |
| X | g.100341964A>G | CA517696759 | PCDH19 | c.2646T>C (p.Thr882=) c.2787T>C (p.Thr929=) c.2643T>C (p.Thr881=) c.2784T>C (p.Thr928=) | |
| X | g.100341964A>T | CA517696757 | PCDH19 | c.2646T>A (p.Thr882=) c.2787T>A (p.Thr929=) c.2643T>A (p.Thr881=) c.2784T>A (p.Thr928=) | |
| X | g.100341965G>A | CA333821204 | PCDH19 | c.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 |
| X | g.100341965G>C | CA413999927 | PCDH19 | c.2645C>G (p.Thr882Ser) c.2786C>G (p.Thr929Ser) c.2642C>G (p.Thr881Ser) c.2783C>G (p.Thr928Ser) | |
| X | g.100341965G= | CA2447955677 | PCDH19 | c.2645C= (p.Thr882=) c.2786C= (p.Thr929=) c.2642C= (p.Thr881=) c.2783C= (p.Thr928=) | |
| X | g.100341965G>T | CA413999925 | PCDH19 | c.2645C>A (p.Thr882Asn) c.2786C>A (p.Thr929Asn) c.2642C>A (p.Thr881Asn) c.2783C>A (p.Thr928Asn) | gnomAD v4 |
| X | g.100341966T>A | CA413999929 | PCDH19 | c.2644A>T (p.Thr882Ser) c.2785A>T (p.Thr929Ser) c.2641A>T (p.Thr881Ser) c.2782A>T (p.Thr928Ser) | |
| X | g.100341966T>C | CA413999932 | PCDH19 | c.2644A>G (p.Thr882Ala) c.2785A>G (p.Thr929Ala) c.2641A>G (p.Thr881Ala) c.2782A>G (p.Thr928Ala) | dbSNP gnomAD v4 |
| X | g.100341966T>G | CA413999931 | PCDH19 | c.2644A>C (p.Thr882Pro) c.2785A>C (p.Thr929Pro) c.2641A>C (p.Thr881Pro) c.2782A>C (p.Thr928Pro) | |
| X | g.100341966T= | CA2447955678 | PCDH19 | c.2644A= (p.Thr882=) c.2785A= (p.Thr929=) c.2641A= (p.Thr881=) c.2782A= (p.Thr928=) | |
| X | g.100341967A>C | CA413999934 | PCDH19 | c.2643T>G (p.Asp881Glu) c.2784T>G (p.Asp928Glu) c.2640T>G (p.Asp880Glu) c.2781T>G (p.Asp927Glu) | |
| X | g.100341967A>G | CA517696780 | PCDH19 | c.2643T>C (p.Asp881=) c.2784T>C (p.Asp928=) c.2640T>C (p.Asp880=) c.2781T>C (p.Asp927=) | |
| X | g.100341967A>T | CA413999935 | PCDH19 | c.2643T>A (p.Asp881Glu) c.2784T>A (p.Asp928Glu) c.2640T>A (p.Asp880Glu) c.2781T>A (p.Asp927Glu) | |
| X | g.100341968T>A | CA413999937 | PCDH19 | c.2642A>T (p.Asp881Val) c.2783A>T (p.Asp928Val) c.2639A>T (p.Asp880Val) c.2780A>T (p.Asp927Val) | |
| X | g.100341968T>C | CA413999938 | PCDH19 | c.2642A>G (p.Asp881Gly) c.2783A>G (p.Asp928Gly) c.2639A>G (p.Asp880Gly) c.2780A>G (p.Asp927Gly) | |
| X | g.100341968T>G | CA413999939 | PCDH19 | c.2642A>C (p.Asp881Ala) c.2783A>C (p.Asp928Ala) c.2639A>C (p.Asp880Ala) c.2780A>C (p.Asp927Ala) | |
| X | g.100341969C>A | CA413999940 | PCDH19 | c.2641G>T (p.Asp881Tyr) c.2782G>T (p.Asp928Tyr) c.2638G>T (p.Asp880Tyr) c.2779G>T (p.Asp927Tyr) | |
| X | g.100341969C>G | CA413999942 | PCDH19 | c.2641G>C (p.Asp881His) c.2782G>C (p.Asp928His) c.2638G>C (p.Asp880His) c.2779G>C (p.Asp927His) | |
| X | g.100341969C>T | CA413999944 | PCDH19 | c.2641G>A (p.Asp881Asn) c.2782G>A (p.Asp928Asn) c.2638G>A (p.Asp880Asn) c.2779G>A (p.Asp927Asn) | |
| X | g.100341970A= | CA2447955679 | PCDH19 | c.2640T= (p.Cys880=) c.2781T= (p.Cys927=) c.2637T= (p.Cys879=) c.2778T= (p.Cys926=) | |
| X | g.100341970A>C | CA413999945 | PCDH19 | c.2640T>G (p.Cys880Trp) c.2781T>G (p.Cys927Trp) c.2637T>G (p.Cys879Trp) c.2778T>G (p.Cys926Trp) | |
| X | g.100341970A>G | CA517696798 | PCDH19 | c.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 |
| X | g.100341970A>T | CA413999947 | PCDH19 | c.2640T>A (p.Cys880Ter) c.2781T>A (p.Cys927Ter) c.2637T>A (p.Cys879Ter) c.2778T>A (p.Cys926Ter) | |
| X | g.100341971C>A | CA413999952 | PCDH19 | c.2639G>T (p.Cys880Phe) c.2780G>T (p.Cys927Phe) c.2636G>T (p.Cys879Phe) c.2777G>T (p.Cys926Phe) | gnomAD v4 |
| X | g.100341971C>G | CA413999950 | PCDH19 | c.2639G>C (p.Cys880Ser) c.2780G>C (p.Cys927Ser) c.2636G>C (p.Cys879Ser) c.2777G>C (p.Cys926Ser) | |
| X | g.100341971C>T | CA413999948 | PCDH19 | c.2639G>A (p.Cys880Tyr) c.2780G>A (p.Cys927Tyr) c.2636G>A (p.Cys879Tyr) c.2777G>A (p.Cys926Tyr) | |
| X | g.100341972A>C | CA413999954 | PCDH19 | c.2638T>G (p.Cys880Gly) c.2779T>G (p.Cys927Gly) c.2635T>G (p.Cys879Gly) c.2776T>G (p.Cys926Gly) | |
| X | g.100341972A>G | CA413999955 | PCDH19 | c.2638T>C (p.Cys880Arg) c.2779T>C (p.Cys927Arg) c.2635T>C (p.Cys879Arg) c.2776T>C (p.Cys926Arg) | gnomAD v4 |
| X | g.100341972A>T | CA413999957 | PCDH19 | c.2638T>A (p.Cys880Ser) c.2779T>A (p.Cys927Ser) c.2635T>A (p.Cys879Ser) c.2776T>A (p.Cys926Ser) | |
| X | g.100341973A= | CA2447955680 | PCDH19 | c.2637T= (p.Tyr879=) c.2778T= (p.Tyr926=) c.2634T= (p.Tyr878=) c.2775T= (p.Tyr925=) | |
| X | g.100341973A>C | CA413999959 | PCDH19 | c.2637T>G (p.Tyr879Ter) c.2778T>G (p.Tyr926Ter) c.2634T>G (p.Tyr878Ter) c.2775T>G (p.Tyr925Ter) | |
| X | g.100341973A>G | CA10468709 | PCDH19 | c.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 |
| X | g.100341973A>T | CA413999961 | PCDH19 | c.2637T>A (p.Tyr879Ter) c.2778T>A (p.Tyr926Ter) c.2634T>A (p.Tyr878Ter) c.2775T>A (p.Tyr925Ter) | |
| X | g.100341974T>A | CA413999963 | PCDH19 | c.2636A>T (p.Tyr879Phe) c.2777A>T (p.Tyr926Phe) c.2633A>T (p.Tyr878Phe) c.2774A>T (p.Tyr925Phe) | |
| X | g.100341974T>C | CA413999964 | PCDH19 | c.2636A>G (p.Tyr879Cys) c.2777A>G (p.Tyr926Cys) c.2633A>G (p.Tyr878Cys) c.2774A>G (p.Tyr925Cys) | |
| X | g.100341974T>G | CA413999966 | PCDH19 | c.2636A>C (p.Tyr879Ser) c.2777A>C (p.Tyr926Ser) c.2633A>C (p.Tyr878Ser) c.2774A>C (p.Tyr925Ser) | |
| X | g.100341975A>C | CA413999968 | PCDH19 | c.2635T>G (p.Tyr879Asp) c.2776T>G (p.Tyr926Asp) c.2632T>G (p.Tyr878Asp) c.2773T>G (p.Tyr925Asp) | |
| X | g.100341975A>G | CA413999969 | PCDH19 | c.2635T>C (p.Tyr879His) c.2776T>C (p.Tyr926His) c.2632T>C (p.Tyr878His) c.2773T>C (p.Tyr925His) | |
| X | g.100341975A>T | CA413999971 | PCDH19 | c.2635T>A (p.Tyr879Asn) c.2776T>A (p.Tyr926Asn) c.2632T>A (p.Tyr878Asn) c.2773T>A (p.Tyr925Asn) | |
| X | g.100341976C>A | CA517696822 | PCDH19 | c.2634G>T (p.Leu878=) c.2775G>T (p.Leu925=) c.2631G>T (p.Leu877=) c.2772G>T (p.Leu924=) | |
| X | g.100341976C= | CA2447955681 | PCDH19 | c.2634G= (p.Leu878=) c.2775G= (p.Leu925=) c.2631G= (p.Leu877=) c.2772G= (p.Leu924=) | |
| X | g.100341976C>G | CA517696824 | PCDH19 | c.2634G>C (p.Leu878=) c.2775G>C (p.Leu925=) c.2631G>C (p.Leu877=) c.2772G>C (p.Leu924=) | |
| X | g.100341976C>T | CA517696836 | PCDH19 | c.2634G>A (p.Leu878=) c.2775G>A (p.Leu925=) c.2631G>A (p.Leu877=) c.2772G>A (p.Leu924=) | dbSNP gnomAD v4 |
| X | g.100341977A>C | CA413999974 | PCDH19 | c.2633T>G (p.Leu878Arg) c.2774T>G (p.Leu925Arg) c.2630T>G (p.Leu877Arg) c.2771T>G (p.Leu924Arg) | |
| X | g.100341977A>G | CA413999976 | PCDH19 | c.2633T>C (p.Leu878Pro) c.2774T>C (p.Leu925Pro) c.2630T>C (p.Leu877Pro) c.2771T>C (p.Leu924Pro) | |
| X | g.100341977A>T | CA413999973 | PCDH19 | c.2633T>A (p.Leu878Gln) c.2774T>A (p.Leu925Gln) c.2630T>A (p.Leu877Gln) c.2771T>A (p.Leu924Gln) | |
| X | g.100341978G>A | CA517696846 | PCDH19 | c.2632C>T (p.Leu878=) c.2773C>T (p.Leu925=) c.2629C>T (p.Leu877=) c.2770C>T (p.Leu924=) | |
| X | g.100341978G>C | CA413999978 | PCDH19 | c.2632C>G (p.Leu878Val) c.2773C>G (p.Leu925Val) c.2629C>G (p.Leu877Val) c.2770C>G (p.Leu924Val) | |
| X | g.100341978G>T | CA413999980 | PCDH19 | c.2632C>A (p.Leu878Met) c.2773C>A (p.Leu925Met) c.2629C>A (p.Leu877Met) c.2770C>A (p.Leu924Met) | |
| X | g.100341979G>A | CA517696850 | PCDH19 | c.2631C>T (p.Ser877=) c.2772C>T (p.Ser924=) c.2628C>T (p.Ser876=) c.2769C>T (p.Ser923=) | |
| X | g.100341979G>C | CA413999981 | PCDH19 | c.2631C>G (p.Ser877Arg) c.2772C>G (p.Ser924Arg) c.2628C>G (p.Ser876Arg) c.2769C>G (p.Ser923Arg) | |
| X | g.100341979G>T | CA413999983 | PCDH19 | c.2631C>A (p.Ser877Arg) c.2772C>A (p.Ser924Arg) c.2628C>A (p.Ser876Arg) c.2769C>A (p.Ser923Arg) | |
| X | g.100341980C>A | CA413999985 | PCDH19 | c.2630G>T (p.Ser877Ile) c.2771G>T (p.Ser924Ile) c.2627G>T (p.Ser876Ile) c.2768G>T (p.Ser923Ile) | |
| X | g.100341980C>G | CA413999987 | PCDH19 | c.2630G>C (p.Ser877Thr) c.2771G>C (p.Ser924Thr) c.2627G>C (p.Ser876Thr) c.2768G>C (p.Ser923Thr) | gnomAD v4 |
| X | g.100341980C>T | CA413999988 | PCDH19 | c.2630G>A (p.Ser877Asn) c.2771G>A (p.Ser924Asn) c.2627G>A (p.Ser876Asn) c.2768G>A (p.Ser923Asn) | COSMIC COSMIC |
| X | g.100341981T>A | CA413999989 | PCDH19 | c.2629A>T (p.Ser877Cys) c.2770A>T (p.Ser924Cys) c.2626A>T (p.Ser876Cys) c.2767A>T (p.Ser923Cys) | gnomAD v4 |
| X | g.100341981T>C | CA10468710 | PCDH19 | c.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 |
| X | g.100341981T>G | CA413999992 | PCDH19 | c.2629A>C (p.Ser877Arg) c.2770A>C (p.Ser924Arg) c.2626A>C (p.Ser876Arg) c.2767A>C (p.Ser923Arg) | |
| X | g.100341981T= | CA2447955682 | PCDH19 | c.2629A= (p.Ser877=) c.2770A= (p.Ser924=) c.2626A= (p.Ser876=) c.2767A= (p.Ser923=) | |
| X | g.100341982C>A | CA517696860 | PCDH19 | c.2628G>T (p.Arg876=) c.2769G>T (p.Arg923=) c.2625G>T (p.Arg875=) c.2766G>T (p.Arg922=) | |
| X | g.100341982C>G | CA517696861 | PCDH19 | c.2628G>C (p.Arg876=) c.2769G>C (p.Arg923=) c.2625G>C (p.Arg875=) c.2766G>C (p.Arg922=) | |
| X | g.100341982C>T | CA517696863 | PCDH19 | c.2628G>A (p.Arg876=) c.2769G>A (p.Arg923=) c.2625G>A (p.Arg875=) c.2766G>A (p.Arg922=) | |
| X | g.100341983C>A | CA413999994 | PCDH19 | c.2627G>T (p.Arg876Leu) c.2768G>T (p.Arg923Leu) c.2624G>T (p.Arg875Leu) c.2765G>T (p.Arg922Leu) | |
| X | g.100341983C= | CA2447955683 | PCDH19 | c.2627G= (p.Arg876=) c.2768G= (p.Arg923=) c.2624G= (p.Arg875=) c.2765G= (p.Arg922=) | |
| X | g.100341983C>G | CA413999995 | PCDH19 | c.2627G>C (p.Arg876Pro) c.2768G>C (p.Arg923Pro) c.2624G>C (p.Arg875Pro) c.2765G>C (p.Arg922Pro) | |
| X | g.100341983C>T | CA10468711 | PCDH19 | c.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 |
| X | g.100341984del | CA2518684028 | PCDH19 | c.2626del (p.Arg876GlyfsTer13) c.2767del (p.Arg923GlyfsTer13) c.2623del (p.Arg875GlyfsTer13) c.2764del (p.Arg922GlyfsTer13) | |
| X | g.100341984G>A | CA10468713 | PCDH19 | c.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 |
| X | g.100341984G>C | CA413999998 | PCDH19 | c.2626C>G (p.Arg876Gly) c.2767C>G (p.Arg923Gly) c.2623C>G (p.Arg875Gly) c.2764C>G (p.Arg922Gly) | |
| X | g.100341984G= | CA2447955684 | PCDH19 | c.2626C= (p.Arg876=) c.2767C= (p.Arg923=) c.2623C= (p.Arg875=) c.2764C= (p.Arg922=) | |
| X | g.100341984G>T | CA10468712 | PCDH19 | c.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 |
| X | g.100341985C>A | CA414000000 | PCDH19 | c.2625G>T (p.Gln875His) c.2766G>T (p.Gln922His) c.2622G>T (p.Gln874His) c.2763G>T (p.Gln921His) | |
| X | g.100341985C= | CA2447955685 | PCDH19 | c.2625G= (p.Gln875=) c.2766G= (p.Gln922=) c.2622G= (p.Gln874=) c.2763G= (p.Gln921=) | |
| X | g.100341985C>G | CA414000001 | PCDH19 | c.2625G>C (p.Gln875His) c.2766G>C (p.Gln922His) c.2622G>C (p.Gln874His) c.2763G>C (p.Gln921His) | |
| X | g.100341985C>T | CA10468714 | PCDH19 | c.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 |
| X | g.100341986T>A | CA414000002 | PCDH19 | c.2624A>T (p.Gln875Leu) c.2765A>T (p.Gln922Leu) c.2621A>T (p.Gln874Leu) c.2762A>T (p.Gln921Leu) | |
| X | g.100341986T>C | CA414000003 | PCDH19 | c.2624A>G (p.Gln875Arg) c.2765A>G (p.Gln922Arg) c.2621A>G (p.Gln874Arg) c.2762A>G (p.Gln921Arg) | |
| X | g.100341986T>G | CA414000004 | PCDH19 | c.2624A>C (p.Gln875Pro) c.2765A>C (p.Gln922Pro) c.2621A>C (p.Gln874Pro) c.2762A>C (p.Gln921Pro) | |
| X | g.100341987G>A | CA414000005 | PCDH19 | c.2623C>T (p.Gln875Ter) c.2764C>T (p.Gln922Ter) c.2620C>T (p.Gln874Ter) c.2761C>T (p.Gln921Ter) | ClinVar dbSNP |
| X | g.100341987G>C | CA414000006 | PCDH19 | c.2623C>G (p.Gln875Glu) c.2764C>G (p.Gln922Glu) c.2620C>G (p.Gln874Glu) c.2761C>G (p.Gln921Glu) | |
| X | g.100341987G>T | CA414000008 | PCDH19 | c.2623C>A (p.Gln875Lys) c.2764C>A (p.Gln922Lys) c.2620C>A (p.Gln874Lys) c.2761C>A (p.Gln921Lys) | gnomAD v4 |
| X | g.100341988G>A | CA517696876 | PCDH19 | c.2622C>T (p.Val874=) c.2763C>T (p.Val921=) c.2619C>T (p.Val873=) c.2760C>T (p.Val920=) | |
| X | g.100341988G>C | CA517696877 | PCDH19 | c.2622C>G (p.Val874=) c.2763C>G (p.Val921=) c.2619C>G (p.Val873=) c.2760C>G (p.Val920=) | |
| X | g.100341988G>T | CA517696879 | PCDH19 | c.2622C>A (p.Val874=) c.2763C>A (p.Val921=) c.2619C>A (p.Val873=) c.2760C>A (p.Val920=) | |
| X | g.100341989A>C | CA414000010 | PCDH19 | c.2621T>G (p.Val874Gly) c.2762T>G (p.Val921Gly) c.2618T>G (p.Val873Gly) c.2759T>G (p.Val920Gly) | |
| X | g.100341989A>G | CA414000011 | PCDH19 | c.2621T>C (p.Val874Ala) c.2762T>C (p.Val921Ala) c.2618T>C (p.Val873Ala) c.2759T>C (p.Val920Ala) | gnomAD v4 |
| X | g.100341989A>T | CA414000013 | PCDH19 | c.2621T>A (p.Val874Asp) c.2762T>A (p.Val921Asp) c.2618T>A (p.Val873Asp) c.2759T>A (p.Val920Asp) | |
| X | g.100341990C>A | CA414000015 | PCDH19 | c.2620G>T (p.Val874Phe) c.2761G>T (p.Val921Phe) c.2617G>T (p.Val873Phe) c.2758G>T (p.Val920Phe) | |
| X | g.100341990C= | CA2447955686 | PCDH19 | c.2620G= (p.Val874=) c.2761G= (p.Val921=) c.2617G= (p.Val873=) c.2758G= (p.Val920=) | |
| X | g.100341990C>G | CA414000017 | PCDH19 | c.2620G>C (p.Val874Leu) c.2761G>C (p.Val921Leu) c.2617G>C (p.Val873Leu) c.2758G>C (p.Val920Leu) | |
| X | g.100341990C>T | CA333821205 | PCDH19 | c.2620G>A (p.Val874Ile) c.2761G>A (p.Val921Ile) c.2617G>A (p.Val873Ile) c.2758G>A (p.Val920Ile) | ClinVar dbSNP |
| X | g.100341991A>C | CA414000019 | PCDH19 | c.2619T>G (p.Asp873Glu) c.2760T>G (p.Asp920Glu) c.2616T>G (p.Asp872Glu) c.2757T>G (p.Asp919Glu) | |
| X | g.100341991A>G | CA517696894 | PCDH19 | c.2619T>C (p.Asp873=) c.2760T>C (p.Asp920=) c.2616T>C (p.Asp872=) c.2757T>C (p.Asp919=) | gnomAD v4 |
| X | g.100341991A>T | CA414000020 | PCDH19 | c.2619T>A (p.Asp873Glu) c.2760T>A (p.Asp920Glu) c.2616T>A (p.Asp872Glu) c.2757T>A (p.Asp919Glu) | |
| X | g.100341992T>A | CA414000022 | PCDH19 | c.2618A>T (p.Asp873Val) c.2759A>T (p.Asp920Val) c.2615A>T (p.Asp872Val) c.2756A>T (p.Asp919Val) | |
| X | g.100341992T>C | CA414000025 | PCDH19 | c.2618A>G (p.Asp873Gly) c.2759A>G (p.Asp920Gly) c.2615A>G (p.Asp872Gly) c.2756A>G (p.Asp919Gly) | |
| X | g.100341992T>G | CA414000023 | PCDH19 | c.2618A>C (p.Asp873Ala) c.2759A>C (p.Asp920Ala) c.2615A>C (p.Asp872Ala) c.2756A>C (p.Asp919Ala) | |
| X | g.100341993C>A | CA414000026 | PCDH19 | c.2617G>T (p.Asp873Tyr) c.2758G>T (p.Asp920Tyr) c.2614G>T (p.Asp872Tyr) c.2755G>T (p.Asp919Tyr) | |
| X | g.100341993C>G | CA414000028 | PCDH19 | c.2617G>C (p.Asp873His) c.2758G>C (p.Asp920His) c.2614G>C (p.Asp872His) c.2755G>C (p.Asp919His) | |
| X | g.100341993C>T | CA414000029 | PCDH19 | c.2617G>A (p.Asp873Asn) c.2758G>A (p.Asp920Asn) c.2614G>A (p.Asp872Asn) c.2755G>A (p.Asp919Asn) | COSMIC COSMIC |
| X | g.100341994A>C | CA414000030 | PCDH19 | c.2616T>G (p.His872Gln) c.2757T>G (p.His919Gln) c.2613T>G (p.His871Gln) c.2754T>G (p.His918Gln) | COSMIC COSMIC |
| X | g.100341994A>G | CA517696907 | PCDH19 | c.2616T>C (p.His872=) c.2757T>C (p.His919=) c.2613T>C (p.His871=) c.2754T>C (p.His918=) | |
| X | g.100341994A>T | CA414000032 | PCDH19 | c.2616T>A (p.His872Gln) c.2757T>A (p.His919Gln) c.2613T>A (p.His871Gln) c.2754T>A (p.His918Gln) | |
| X | g.100341995T>A | CA414000034 | PCDH19 | c.2615A>T (p.His872Leu) c.2756A>T (p.His919Leu) c.2612A>T (p.His871Leu) c.2753A>T (p.His918Leu) | |
| X | g.100341995T>C | CA414000036 | PCDH19 | c.2615A>G (p.His872Arg) c.2756A>G (p.His919Arg) c.2612A>G (p.His871Arg) c.2753A>G (p.His918Arg) | |
| X | g.100341995T>G | CA414000037 | PCDH19 | c.2615A>C (p.His872Pro) c.2756A>C (p.His919Pro) c.2612A>C (p.His871Pro) c.2753A>C (p.His918Pro) | |
| X | g.100341996G>A | CA414000039 | PCDH19 | c.2614C>T (p.His872Tyr) c.2755C>T (p.His919Tyr) c.2611C>T (p.His871Tyr) c.2752C>T (p.His918Tyr) | |
| X | g.100341996G>C | CA414000041 | PCDH19 | c.2614C>G (p.His872Asp) c.2755C>G (p.His919Asp) c.2611C>G (p.His871Asp) c.2752C>G (p.His918Asp) | |
| X | g.100341996G>T | CA414000042 | PCDH19 | c.2614C>A (p.His872Asn) c.2755C>A (p.His919Asn) c.2611C>A (p.His871Asn) c.2752C>A (p.His918Asn) | |
| X | g.100341997C>A | CA414000045 | PCDH19 | c.2613G>T (p.Glu871Asp) c.2754G>T (p.Glu918Asp) c.2610G>T (p.Glu870Asp) c.2751G>T (p.Glu917Asp) | ClinVar dbSNP |
| X | g.100341997C= | CA2447955687 | PCDH19 | c.2613G= (p.Glu871=) c.2754G= (p.Glu918=) c.2610G= (p.Glu870=) c.2751G= (p.Glu917=) | |
| X | g.100341997C>G | CA414000044 | PCDH19 | c.2613G>C (p.Glu871Asp) c.2754G>C (p.Glu918Asp) c.2610G>C (p.Glu870Asp) c.2751G>C (p.Glu917Asp) | |
| X | g.100341997C>T | CA517696917 | PCDH19 | c.2613G>A (p.Glu871=) c.2754G>A (p.Glu918=) c.2610G>A (p.Glu870=) c.2751G>A (p.Glu917=) | |
| X | g.100341998T>A | CA414000046 | PCDH19 | c.2612A>T (p.Glu871Val) c.2753A>T (p.Glu918Val) c.2609A>T (p.Glu870Val) c.2750A>T (p.Glu917Val) | |
| X | g.100341998T>C | CA414000047 | PCDH19 | c.2612A>G (p.Glu871Gly) c.2753A>G (p.Glu918Gly) c.2609A>G (p.Glu870Gly) c.2750A>G (p.Glu917Gly) | |
| X | g.100341998T>G | CA414000049 | PCDH19 | c.2612A>C (p.Glu871Ala) c.2753A>C (p.Glu918Ala) c.2609A>C (p.Glu870Ala) c.2750A>C (p.Glu917Ala) | |
| X | g.100341999C>A | CA414000051 | PCDH19 | c.2611G>T (p.Glu871Ter) c.2752G>T (p.Glu918Ter) c.2608G>T (p.Glu870Ter) c.2749G>T (p.Glu917Ter) | |
| X | g.100341999C>G | CA414000053 | PCDH19 | c.2611G>C (p.Glu871Gln) c.2752G>C (p.Glu918Gln) c.2608G>C (p.Glu870Gln) c.2749G>C (p.Glu917Gln) | |
| X | g.100341999C>T | CA414000054 | PCDH19 | c.2611G>A (p.Glu871Lys) c.2752G>A (p.Glu918Lys) c.2608G>A (p.Glu870Lys) c.2749G>A (p.Glu917Lys) | ClinVar dbSNP |
| X | g.100342000A>C | CA414000056 | PCDH19 | c.2610T>G (p.Ser870Arg) c.2751T>G (p.Ser917Arg) c.2607T>G (p.Ser869Arg) c.2748T>G (p.Ser916Arg) | gnomAD v4 |
| X | g.100342000A>G | CA517696932 | PCDH19 | c.2610T>C (p.Ser870=) c.2751T>C (p.Ser917=) c.2607T>C (p.Ser869=) c.2748T>C (p.Ser916=) | |
| X | g.100342000A>T | CA414000058 | PCDH19 | c.2610T>A (p.Ser870Arg) c.2751T>A (p.Ser917Arg) c.2607T>A (p.Ser869Arg) c.2748T>A (p.Ser916Arg) | |
| X | g.100342001C>A | CA414000060 | PCDH19 | c.2609G>T (p.Ser870Ile) c.2750G>T (p.Ser917Ile) c.2606G>T (p.Ser869Ile) c.2747G>T (p.Ser916Ile) | |
| X | g.100342001C>G | CA414000061 | PCDH19 | c.2609G>C (p.Ser870Thr) c.2750G>C (p.Ser917Thr) c.2606G>C (p.Ser869Thr) c.2747G>C (p.Ser916Thr) | |
| X | g.100342001C>T | CA414000062 | PCDH19 | c.2609G>A (p.Ser870Asn) c.2750G>A (p.Ser917Asn) c.2606G>A (p.Ser869Asn) c.2747G>A (p.Ser916Asn) | |
| X | g.100342002T>A | CA414000066 | PCDH19 | c.2608A>T (p.Ser870Cys) c.2749A>T (p.Ser917Cys) c.2605A>T (p.Ser869Cys) c.2746A>T (p.Ser916Cys) | |
| X | g.100342002T>C | CA414000068 | PCDH19 | c.2608A>G (p.Ser870Gly) c.2749A>G (p.Ser917Gly) c.2605A>G (p.Ser869Gly) c.2746A>G (p.Ser916Gly) | |
| X | g.100342002T>G | CA414000064 | PCDH19 | c.2608A>C (p.Ser870Arg) c.2749A>C (p.Ser917Arg) c.2605A>C (p.Ser869Arg) c.2746A>C (p.Ser916Arg) | |
| X | g.100342003G>A | CA517696942 | PCDH19 | c.2607C>T (p.Asp869=) c.2748C>T (p.Asp916=) c.2604C>T (p.Asp868=) c.2745C>T (p.Asp915=) | |
| X | g.100342003G>C | CA414000069 | PCDH19 | c.2607C>G (p.Asp869Glu) c.2748C>G (p.Asp916Glu) c.2604C>G (p.Asp868Glu) c.2745C>G (p.Asp915Glu) | |
| X | g.100342003G>T | CA414000071 | PCDH19 | c.2607C>A (p.Asp869Glu) c.2748C>A (p.Asp916Glu) c.2604C>A (p.Asp868Glu) c.2745C>A (p.Asp915Glu) | |
| X | g.100342004T>A | CA414000073 | PCDH19 | c.2606A>T (p.Asp869Val) c.2747A>T (p.Asp916Val) c.2603A>T (p.Asp868Val) c.2744A>T (p.Asp915Val) | |
| X | g.100342004T>C | CA414000075 | PCDH19 | c.2606A>G (p.Asp869Gly) c.2747A>G (p.Asp916Gly) c.2603A>G (p.Asp868Gly) c.2744A>G (p.Asp915Gly) | |
| X | g.100342004T>G | CA414000076 | PCDH19 | c.2606A>C (p.Asp869Ala) c.2747A>C (p.Asp916Ala) c.2603A>C (p.Asp868Ala) c.2744A>C (p.Asp915Ala) | |
| X | g.100342005C>A | CA414000081 | PCDH19 | c.2605G>T (p.Asp869Tyr) c.2746G>T (p.Asp916Tyr) c.2602G>T (p.Asp868Tyr) c.2743G>T (p.Asp915Tyr) | |
| X | g.100342005C>G | CA414000080 | PCDH19 | c.2605G>C (p.Asp869His) c.2746G>C (p.Asp916His) c.2602G>C (p.Asp868His) c.2743G>C (p.Asp915His) | |
| X | g.100342005C>T | CA414000078 | PCDH19 | c.2605G>A (p.Asp869Asn) c.2746G>A (p.Asp916Asn) c.2602G>A (p.Asp868Asn) c.2743G>A (p.Asp915Asn) | |
| X | g.100342006A>C | CA517696949 | PCDH19 | c.2604T>G (p.Thr868=) c.2745T>G (p.Thr915=) c.2601T>G (p.Thr867=) c.2742T>G (p.Thr914=) | |
| X | g.100342006A>G | CA517696951 | PCDH19 | c.2604T>C (p.Thr868=) c.2745T>C (p.Thr915=) c.2601T>C (p.Thr867=) c.2742T>C (p.Thr914=) | |
| X | g.100342006A>T | CA517696953 | PCDH19 | c.2604T>A (p.Thr868=) c.2745T>A (p.Thr915=) c.2601T>A (p.Thr867=) c.2742T>A (p.Thr914=) | |
| X | g.100342007G>A | CA414000083 | PCDH19 | c.2603C>T (p.Thr868Ile) c.2744C>T (p.Thr915Ile) c.2600C>T (p.Thr867Ile) c.2741C>T (p.Thr914Ile) | |
| X | g.100342007G>C | CA414000085 | PCDH19 | c.2603C>G (p.Thr868Ser) c.2744C>G (p.Thr915Ser) c.2600C>G (p.Thr867Ser) c.2741C>G (p.Thr914Ser) | |
| X | g.100342007G>T | CA414000087 | PCDH19 | c.2603C>A (p.Thr868Asn) c.2744C>A (p.Thr915Asn) c.2600C>A (p.Thr867Asn) c.2741C>A (p.Thr914Asn) | |
| X | g.100342008T>A | CA414000088 | PCDH19 | c.2602A>T (p.Thr868Ser) c.2743A>T (p.Thr915Ser) c.2599A>T (p.Thr867Ser) c.2740A>T (p.Thr914Ser) | |
| X | g.100342008T>C | CA414000089 | PCDH19 | c.2602A>G (p.Thr868Ala) c.2743A>G (p.Thr915Ala) c.2599A>G (p.Thr867Ala) c.2740A>G (p.Thr914Ala) | |
| X | g.100342008T>G | CA414000091 | PCDH19 | c.2602A>C (p.Thr868Pro) c.2743A>C (p.Thr915Pro) c.2599A>C (p.Thr867Pro) c.2740A>C (p.Thr914Pro) | |
| X | g.100342009T>A | CA414000093 | PCDH19 | c.2601A>T (p.Gln867His) c.2742A>T (p.Gln914His) c.2598A>T (p.Gln866His) c.2739A>T (p.Gln913His) | |
| X | g.100342009T>C | CA172950 | PCDH19 | c.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 |
| X | g.100342009T>G | CA414000095 | PCDH19 | c.2601A>C (p.Gln867His) c.2742A>C (p.Gln914His) c.2598A>C (p.Gln866His) c.2739A>C (p.Gln913His) | |
| X | g.100342009T= | CA2447955688 | PCDH19 | c.2601A= (p.Gln867=) c.2742A= (p.Gln914=) c.2598A= (p.Gln866=) c.2739A= (p.Gln913=) | |
| X | g.100342010T>A | CA414000097 | PCDH19 | c.2600A>T (p.Gln867Leu) c.2741A>T (p.Gln914Leu) c.2597A>T (p.Gln866Leu) c.2738A>T (p.Gln913Leu) | |
| X | g.100342010T>C | CA414000098 | PCDH19 | c.2600A>G (p.Gln867Arg) c.2741A>G (p.Gln914Arg) c.2597A>G (p.Gln866Arg) c.2738A>G (p.Gln913Arg) | |
| X | g.100342010T>G | CA414000100 | PCDH19 | c.2600A>C (p.Gln867Pro) c.2741A>C (p.Gln914Pro) c.2597A>C (p.Gln866Pro) c.2738A>C (p.Gln913Pro) | |
| X | g.100342011G>A | CA414000102 | PCDH19 | c.2599C>T (p.Gln867Ter) c.2740C>T (p.Gln914Ter) c.2596C>T (p.Gln866Ter) c.2737C>T (p.Gln913Ter) | ClinVar dbSNP |
| X | g.100342011G>C | CA414000104 | PCDH19 | c.2599C>G (p.Gln867Glu) c.2740C>G (p.Gln914Glu) c.2596C>G (p.Gln866Glu) c.2737C>G (p.Gln913Glu) | |
| X | g.100342011G= | CA2447955689 | PCDH19 | c.2599C= (p.Gln867=) c.2740C= (p.Gln914=) c.2596C= (p.Gln866=) c.2737C= (p.Gln913=) | |
| X | g.100342011G>T | CA414000105 | PCDH19 | c.2599C>A (p.Gln867Lys) c.2740C>A (p.Gln914Lys) c.2596C>A (p.Gln866Lys) c.2737C>A (p.Gln913Lys) | |
| X | g.100342012G>A | CA517696974 | PCDH19 | c.2598C>T (p.Asp866=) c.2739C>T (p.Asp913=) c.2595C>T (p.Asp865=) c.2736C>T (p.Asp912=) | |
| X | g.100342012G>C | CA414000107 | PCDH19 | c.2598C>G (p.Asp866Glu) c.2739C>G (p.Asp913Glu) c.2595C>G (p.Asp865Glu) c.2736C>G (p.Asp912Glu) | |
| X | g.100342012G>T | CA414000109 | PCDH19 | c.2598C>A (p.Asp866Glu) c.2739C>A (p.Asp913Glu) c.2595C>A (p.Asp865Glu) c.2736C>A (p.Asp912Glu) | |
| X | g.100342013T>A | CA414000111 | PCDH19 | c.2597A>T (p.Asp866Val) c.2738A>T (p.Asp913Val) c.2594A>T (p.Asp865Val) c.2735A>T (p.Asp912Val) | |
| X | g.100342013T>C | CA414000112 | PCDH19 | c.2597A>G (p.Asp866Gly) c.2738A>G (p.Asp913Gly) c.2594A>G (p.Asp865Gly) c.2735A>G (p.Asp912Gly) | |
| X | g.100342013T>G | CA414000113 | PCDH19 | c.2597A>C (p.Asp866Ala) c.2738A>C (p.Asp913Ala) c.2594A>C (p.Asp865Ala) c.2735A>C (p.Asp912Ala) | |
| X | g.100342014C>A | CA414000116 | PCDH19 | c.2596G>T (p.Asp866Tyr) c.2737G>T (p.Asp913Tyr) c.2593G>T (p.Asp865Tyr) c.2734G>T (p.Asp912Tyr) | |
| X | g.100342014C>G | CA414000115 | PCDH19 | c.2596G>C (p.Asp866His) c.2737G>C (p.Asp913His) c.2593G>C (p.Asp865His) c.2734G>C (p.Asp912His) | |
| X | g.100342014C>T | CA414000114 | PCDH19 | c.2596G>A (p.Asp866Asn) c.2737G>A (p.Asp913Asn) c.2593G>A (p.Asp865Asn) c.2734G>A (p.Asp912Asn) | gnomAD v4 |
| X | g.100342015A>C | CA414000118 | PCDH19 | c.2595T>G (p.Ser865Arg) c.2736T>G (p.Ser912Arg) c.2592T>G (p.Ser864Arg) c.2733T>G (p.Ser911Arg) | |
| X | g.100342015A>G | CA517696988 | PCDH19 | c.2595T>C (p.Ser865=) c.2736T>C (p.Ser912=) c.2592T>C (p.Ser864=) c.2733T>C (p.Ser911=) | |
| X | g.100342015A>T | CA414000119 | PCDH19 | c.2595T>A (p.Ser865Arg) c.2736T>A (p.Ser912Arg) c.2592T>A (p.Ser864Arg) c.2733T>A (p.Ser911Arg) | |
| X | g.100342016C>A | CA414000120 | PCDH19 | c.2594G>T (p.Ser865Ile) c.2735G>T (p.Ser912Ile) c.2591G>T (p.Ser864Ile) c.2732G>T (p.Ser911Ile) | |
| X | g.100342016C= | CA2447955690 | PCDH19 | c.2594G= (p.Ser865=) c.2735G= (p.Ser912=) c.2591G= (p.Ser864=) c.2732G= (p.Ser911=) | |
| X | g.100342016C>G | CA414000122 | PCDH19 | c.2594G>C (p.Ser865Thr) c.2735G>C (p.Ser912Thr) c.2591G>C (p.Ser864Thr) c.2732G>C (p.Ser911Thr) | |
| X | g.100342016C>T | CA10468715 | PCDH19 | c.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 |
| X | g.100342017T>A | CA414000124 | PCDH19 | c.2593A>T (p.Ser865Cys) c.2734A>T (p.Ser912Cys) c.2590A>T (p.Ser864Cys) c.2731A>T (p.Ser911Cys) | |
| X | g.100342017T>C | CA414000126 | PCDH19 | c.2593A>G (p.Ser865Gly) c.2734A>G (p.Ser912Gly) c.2590A>G (p.Ser864Gly) c.2731A>G (p.Ser911Gly) | |
| X | g.100342017T>G | CA414000127 | PCDH19 | c.2593A>C (p.Ser865Arg) c.2734A>C (p.Ser912Arg) c.2590A>C (p.Ser864Arg) c.2731A>C (p.Ser911Arg) | |
| X | g.100342018C>A | CA333821206 | PCDH19 | c.2592G>T (p.Glu864Asp) c.2733G>T (p.Glu911Asp) c.2589G>T (p.Glu863Asp) c.2730G>T (p.Glu910Asp) | dbSNP gnomAD v4 |
| X | g.100342018C= | CA2447955691 | PCDH19 | c.2592G= (p.Glu864=) c.2733G= (p.Glu911=) c.2589G= (p.Glu863=) c.2730G= (p.Glu910=) | |
| X | g.100342018C>G | CA414000130 | PCDH19 | c.2592G>C (p.Glu864Asp) c.2733G>C (p.Glu911Asp) c.2589G>C (p.Glu863Asp) c.2730G>C (p.Glu910Asp) | |
| X | g.100342018C>T | CA517697012 | PCDH19 | c.2592G>A (p.Glu864=) c.2733G>A (p.Glu911=) c.2589G>A (p.Glu863=) c.2730G>A (p.Glu910=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100342019T>A | CA414000131 | PCDH19 | c.2591A>T (p.Glu864Val) c.2732A>T (p.Glu911Val) c.2588A>T (p.Glu863Val) c.2729A>T (p.Glu910Val) | |
| X | g.100342019T>C | CA414000133 | PCDH19 | c.2591A>G (p.Glu864Gly) c.2732A>G (p.Glu911Gly) c.2588A>G (p.Glu863Gly) c.2729A>G (p.Glu910Gly) | |
| X | g.100342019T>G | CA414000135 | PCDH19 | c.2591A>C (p.Glu864Ala) c.2732A>C (p.Glu911Ala) c.2588A>C (p.Glu863Ala) c.2729A>C (p.Glu910Ala) | |
| X | g.100342020C>A | CA414000137 | PCDH19 | c.2590G>T (p.Glu864Ter) c.2731G>T (p.Glu911Ter) c.2587G>T (p.Glu863Ter) c.2728G>T (p.Glu910Ter) | COSMIC COSMIC |
| X | g.100342020C>G | CA414000138 | PCDH19 | c.2590G>C (p.Glu864Gln) c.2731G>C (p.Glu911Gln) c.2587G>C (p.Glu863Gln) c.2728G>C (p.Glu910Gln) | |
| X | g.100342020C>T | CA414000139 | PCDH19 | c.2590G>A (p.Glu864Lys) c.2731G>A (p.Glu911Lys) c.2587G>A (p.Glu863Lys) c.2728G>A (p.Glu910Lys) | |
| X | g.100342021C>A | CA414000142 | PCDH19 | c.2589G>T (p.Glu863Asp) c.2730G>T (p.Glu910Asp) c.2586G>T (p.Glu862Asp) c.2727G>T (p.Glu909Asp) | |
| X | g.100342021C= | CA2447955692 | PCDH19 | c.2589G= (p.Glu863=) c.2730G= (p.Glu910=) c.2586G= (p.Glu862=) c.2727G= (p.Glu909=) | |
| X | g.100342021C>G | CA414000143 | PCDH19 | c.2589G>C (p.Glu863Asp) c.2730G>C (p.Glu910Asp) c.2586G>C (p.Glu862Asp) c.2727G>C (p.Glu909Asp) | ClinVar |
| X | g.100342021C>T | CA517697020 | PCDH19 | c.2589G>A (p.Glu863=) c.2730G>A (p.Glu910=) c.2586G>A (p.Glu862=) c.2727G>A (p.Glu909=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100342022T>A | CA414000145 | PCDH19 | c.2588A>T (p.Glu863Val) c.2729A>T (p.Glu910Val) c.2585A>T (p.Glu862Val) c.2726A>T (p.Glu909Val) | |
| X | g.100342022T>C | CA414000147 | PCDH19 | c.2588A>G (p.Glu863Gly) c.2729A>G (p.Glu910Gly) c.2585A>G (p.Glu862Gly) c.2726A>G (p.Glu909Gly) | |
| X | g.100342022T>G | CA414000148 | PCDH19 | c.2588A>C (p.Glu863Ala) c.2729A>C (p.Glu910Ala) c.2585A>C (p.Glu862Ala) c.2726A>C (p.Glu909Ala) | |
| X | g.100342023C>A | CA414000150 | PCDH19 | c.2587G>T (p.Glu863Ter) c.2728G>T (p.Glu910Ter) c.2584G>T (p.Glu862Ter) c.2725G>T (p.Glu909Ter) | ClinVar dbSNP |
| X | g.100342023C>G | CA414000151 | PCDH19 | c.2587G>C (p.Glu863Gln) c.2728G>C (p.Glu910Gln) c.2584G>C (p.Glu862Gln) c.2725G>C (p.Glu909Gln) | |
| X | g.100342023C>T | CA414000153 | PCDH19 | c.2587G>A (p.Glu863Lys) c.2728G>A (p.Glu910Lys) c.2584G>A (p.Glu862Lys) c.2725G>A (p.Glu909Lys) | COSMIC COSMIC |
| X | g.100342024A>C | CA414000155 | PCDH19 | c.2586T>G (p.His862Gln) c.2727T>G (p.His909Gln) c.2583T>G (p.His861Gln) c.2724T>G (p.His908Gln) | |
| X | g.100342024A>G | CA517697030 | PCDH19 | c.2586T>C (p.His862=) c.2727T>C (p.His909=) c.2583T>C (p.His861=) c.2724T>C (p.His908=) | |
| X | g.100342024A>T | CA414000157 | PCDH19 | c.2586T>A (p.His862Gln) c.2727T>A (p.His909Gln) c.2583T>A (p.His861Gln) c.2724T>A (p.His908Gln) | |
| X | g.100342025T>A | CA414000158 | PCDH19 | c.2585A>T (p.His862Leu) c.2726A>T (p.His909Leu) c.2582A>T (p.His861Leu) c.2723A>T (p.His908Leu) | |
| X | g.100342025T>C | CA10468716 | PCDH19 | c.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 |
| X | g.100342025T>G | CA414000161 | PCDH19 | c.2585A>C (p.His862Pro) c.2726A>C (p.His909Pro) c.2582A>C (p.His861Pro) c.2723A>C (p.His908Pro) | |
| X | g.100342025T= | CA2447955693 | PCDH19 | c.2585A= (p.His862=) c.2726A= (p.His909=) c.2582A= (p.His861=) c.2723A= (p.His908=) | |
| X | g.100342026G>A | CA414000165 | PCDH19 | c.2584C>T (p.His862Tyr) c.2725C>T (p.His909Tyr) c.2581C>T (p.His861Tyr) c.2722C>T (p.His908Tyr) | |
| X | g.100342026G>C | CA414000164 | PCDH19 | c.2584C>G (p.His862Asp) c.2725C>G (p.His909Asp) c.2581C>G (p.His861Asp) c.2722C>G (p.His908Asp) | |
| X | g.100342026G>T | CA414000162 | PCDH19 | c.2584C>A (p.His862Asn) c.2725C>A (p.His909Asn) c.2581C>A (p.His861Asn) c.2722C>A (p.His908Asn) | |
| X | g.100342027T>A | CA517697049 | PCDH19 | c.2583A>T (p.Gly861=) c.2724A>T (p.Gly908=) c.2580A>T (p.Gly860=) c.2721A>T (p.Gly907=) | |
| X | g.100342027T>C | CA517697050 | PCDH19 | c.2583A>G (p.Gly861=) c.2724A>G (p.Gly908=) c.2580A>G (p.Gly860=) c.2721A>G (p.Gly907=) | |
| X | g.100342027T>G | CA517697051 | PCDH19 | c.2583A>C (p.Gly861=) c.2724A>C (p.Gly908=) c.2580A>C (p.Gly860=) c.2721A>C (p.Gly907=) | |
| X | g.100342028C>A | CA414000168 | PCDH19 | c.2582G>T (p.Gly861Val) c.2723G>T (p.Gly908Val) c.2579G>T (p.Gly860Val) c.2720G>T (p.Gly907Val) | |
| X | g.100342028C>G | CA414000169 | PCDH19 | c.2582G>C (p.Gly861Ala) c.2723G>C (p.Gly908Ala) c.2579G>C (p.Gly860Ala) c.2720G>C (p.Gly907Ala) | |
| X | g.100342028C>T | CA414000171 | PCDH19 | c.2582G>A (p.Gly861Glu) c.2723G>A (p.Gly908Glu) c.2579G>A (p.Gly860Glu) c.2720G>A (p.Gly907Glu) | |
| X | g.100342029C>A | CA414000172 | PCDH19 | c.2581G>T (p.Gly861Ter) c.2722G>T (p.Gly908Ter) c.2578G>T (p.Gly860Ter) c.2719G>T (p.Gly907Ter) | |
| X | g.100342029C>G | CA414000174 | PCDH19 | c.2581G>C (p.Gly861Arg) c.2722G>C (p.Gly908Arg) c.2578G>C (p.Gly860Arg) c.2719G>C (p.Gly907Arg) | |
| X | g.100342029C>T | CA414000176 | PCDH19 | c.2581G>A (p.Gly861Arg) c.2722G>A (p.Gly908Arg) c.2578G>A (p.Gly860Arg) c.2719G>A (p.Gly907Arg) | |
| X | g.100342030A= | CA2447955694 | PCDH19 | c.2580T= (p.Ser860=) c.2721T= (p.Ser907=) c.2577T= (p.Ser859=) c.2718T= (p.Ser906=) | |
| X | g.100342030A>C | CA414000178 | PCDH19 | c.2580T>G (p.Ser860Arg) c.2721T>G (p.Ser907Arg) c.2577T>G (p.Ser859Arg) c.2718T>G (p.Ser906Arg) | |
| X | g.100342030A>G | CA234490 | PCDH19 | c.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 |
| X | g.100342030A>T | CA414000179 | PCDH19 | c.2580T>A (p.Ser860Arg) c.2721T>A (p.Ser907Arg) c.2577T>A (p.Ser859Arg) c.2718T>A (p.Ser906Arg) | |
| X | g.100342031C>A | CA414000182 | PCDH19 | c.2579G>T (p.Ser860Ile) c.2720G>T (p.Ser907Ile) c.2576G>T (p.Ser859Ile) c.2717G>T (p.Ser906Ile) | |
| X | g.100342031C>G | CA414000183 | PCDH19 | c.2579G>C (p.Ser860Thr) c.2720G>C (p.Ser907Thr) c.2576G>C (p.Ser859Thr) c.2717G>C (p.Ser906Thr) | |
| X | g.100342031C>T | CA414000184 | PCDH19 | c.2579G>A (p.Ser860Asn) c.2720G>A (p.Ser907Asn) c.2576G>A (p.Ser859Asn) c.2717G>A (p.Ser906Asn) | |
| X | g.100342032T>A | CA414000189 | PCDH19 | c.2578A>T (p.Ser860Cys) c.2719A>T (p.Ser907Cys) c.2575A>T (p.Ser859Cys) c.2716A>T (p.Ser906Cys) | |
| X | g.100342032T>C | CA414000187 | PCDH19 | c.2578A>G (p.Ser860Gly) c.2719A>G (p.Ser907Gly) c.2575A>G (p.Ser859Gly) c.2716A>G (p.Ser906Gly) | gnomAD v4 |
| X | g.100342032T>G | CA414000186 | PCDH19 | c.2578A>C (p.Ser860Arg) c.2719A>C (p.Ser907Arg) c.2575A>C (p.Ser859Arg) c.2716A>C (p.Ser906Arg) | |
| X | g.100342033A>C | CA414000190 | PCDH19 | c.2577T>G (p.Asp859Glu) c.2718T>G (p.Asp906Glu) c.2574T>G (p.Asp858Glu) c.2715T>G (p.Asp905Glu) | |
| X | g.100342033A>G | CA517697075 | PCDH19 | c.2577T>C (p.Asp859=) c.2718T>C (p.Asp906=) c.2574T>C (p.Asp858=) c.2715T>C (p.Asp905=) | gnomAD v4 |
| X | g.100342033A>T | CA414000192 | PCDH19 | c.2577T>A (p.Asp859Glu) c.2718T>A (p.Asp906Glu) c.2574T>A (p.Asp858Glu) c.2715T>A (p.Asp905Glu) | |
| X | g.100342034T>A | CA414000193 | PCDH19 | c.2576A>T (p.Asp859Val) c.2717A>T (p.Asp906Val) c.2573A>T (p.Asp858Val) c.2714A>T (p.Asp905Val) | |
| X | g.100342034T>C | CA414000195 | PCDH19 | c.2576A>G (p.Asp859Gly) c.2717A>G (p.Asp906Gly) c.2573A>G (p.Asp858Gly) c.2714A>G (p.Asp905Gly) | gnomAD v4 |
| X | g.100342034T>G | CA414000197 | PCDH19 | c.2576A>C (p.Asp859Ala) c.2717A>C (p.Asp906Ala) c.2573A>C (p.Asp858Ala) c.2714A>C (p.Asp905Ala) | |
| X | g.100342035C>A | CA414000198 | PCDH19 | c.2575G>T (p.Asp859Tyr) c.2716G>T (p.Asp906Tyr) c.2572G>T (p.Asp858Tyr) c.2713G>T (p.Asp905Tyr) | |
| X | g.100342035C>G | CA414000200 | PCDH19 | c.2575G>C (p.Asp859His) c.2716G>C (p.Asp906His) c.2572G>C (p.Asp858His) c.2713G>C (p.Asp905His) | |
| X | g.100342035C>T | CA414000202 | PCDH19 | c.2575G>A (p.Asp859Asn) c.2716G>A (p.Asp906Asn) c.2572G>A (p.Asp858Asn) c.2713G>A (p.Asp905Asn) | COSMIC COSMIC |
| X | g.100342036C>A | CA414000204 | PCDH19 | c.2574G>T (p.Lys858Asn) c.2715G>T (p.Lys905Asn) c.2571G>T (p.Lys857Asn) c.2712G>T (p.Lys904Asn) | |
| X | g.100342036C>G | CA414000205 | PCDH19 | c.2574G>C (p.Lys858Asn) c.2715G>C (p.Lys905Asn) c.2571G>C (p.Lys857Asn) c.2712G>C (p.Lys904Asn) | |
| X | g.100342036C>T | CA517697098 | PCDH19 | c.2574G>A (p.Lys858=) c.2715G>A (p.Lys905=) c.2571G>A (p.Lys857=) c.2712G>A (p.Lys904=) | |
| X | g.100342037T>A | CA414000207 | PCDH19 | c.2573A>T (p.Lys858Met) c.2714A>T (p.Lys905Met) c.2570A>T (p.Lys857Met) c.2711A>T (p.Lys904Met) | |
| X | g.100342037T>C | CA414000209 | PCDH19 | c.2573A>G (p.Lys858Arg) c.2714A>G (p.Lys905Arg) c.2570A>G (p.Lys857Arg) c.2711A>G (p.Lys904Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100342037T>G | CA414000210 | PCDH19 | c.2573A>C (p.Lys858Thr) c.2714A>C (p.Lys905Thr) c.2570A>C (p.Lys857Thr) c.2711A>C (p.Lys904Thr) | |
| X | g.100342037T= | CA2447955695 | PCDH19 | c.2573A= (p.Lys858=) c.2714A= (p.Lys905=) c.2570A= (p.Lys857=) c.2711A= (p.Lys904=) | |
| X | g.100342038T>A | CA414000213 | PCDH19 | c.2572A>T (p.Lys858Ter) c.2713A>T (p.Lys905Ter) c.2569A>T (p.Lys857Ter) c.2710A>T (p.Lys904Ter) | |
| X | g.100342038T>C | CA414000215 | PCDH19 | c.2572A>G (p.Lys858Glu) c.2713A>G (p.Lys905Glu) c.2569A>G (p.Lys857Glu) c.2710A>G (p.Lys904Glu) | |
| X | g.100342038T>G | CA414000212 | PCDH19 | c.2572A>C (p.Lys858Gln) c.2713A>C (p.Lys905Gln) c.2569A>C (p.Lys857Gln) c.2710A>C (p.Lys904Gln) | |
| X | g.100342039C>A | CA517697113 | PCDH19 | c.2571G>T (p.Leu857=) c.2712G>T (p.Leu904=) c.2568G>T (p.Leu856=) c.2709G>T (p.Leu903=) | |
| X | g.100342039C>G | CA517697114 | PCDH19 | c.2571G>C (p.Leu857=) c.2712G>C (p.Leu904=) c.2568G>C (p.Leu856=) c.2709G>C (p.Leu903=) | |
| X | g.100342039C>T | CA517697115 | PCDH19 | c.2571G>A (p.Leu857=) c.2712G>A (p.Leu904=) c.2568G>A (p.Leu856=) c.2709G>A (p.Leu903=) | |
| X | g.100342040A>C | CA414000219 | PCDH19 | c.2570T>G (p.Leu857Arg) c.2711T>G (p.Leu904Arg) c.2567T>G (p.Leu856Arg) c.2708T>G (p.Leu903Arg) | |
| X | g.100342040A>G | CA414000217 | PCDH19 | c.2570T>C (p.Leu857Pro) c.2711T>C (p.Leu904Pro) c.2567T>C (p.Leu856Pro) c.2708T>C (p.Leu903Pro) | |
| X | g.100342040A>T | CA414000220 | PCDH19 | c.2570T>A (p.Leu857Gln) c.2711T>A (p.Leu904Gln) c.2567T>A (p.Leu856Gln) c.2708T>A (p.Leu903Gln) | |
| X | g.100342041G>A | CA517697118 | PCDH19 | c.2569C>T (p.Leu857=) c.2710C>T (p.Leu904=) c.2566C>T (p.Leu856=) c.2707C>T (p.Leu903=) | |
| X | g.100342041G>C | CA414000222 | PCDH19 | c.2569C>G (p.Leu857Val) c.2710C>G (p.Leu904Val) c.2566C>G (p.Leu856Val) c.2707C>G (p.Leu903Val) | |
| X | g.100342041G>T | CA414000224 | PCDH19 | c.2569C>A (p.Leu857Met) c.2710C>A (p.Leu904Met) c.2566C>A (p.Leu856Met) c.2707C>A (p.Leu903Met) | COSMIC COSMIC |
| X | g.100342042G>A | CA517697124 | PCDH19 | c.2568C>T (p.Ser856=) c.2709C>T (p.Ser903=) c.2565C>T (p.Ser855=) c.2706C>T (p.Ser902=) | dbSNP gnomAD v4 |
| X | g.100342042G>C | CA414000225 | PCDH19 | c.2568C>G (p.Ser856Arg) c.2709C>G (p.Ser903Arg) c.2565C>G (p.Ser855Arg) c.2706C>G (p.Ser902Arg) | |
| X | g.100342042G= | CA2447955696 | PCDH19 | c.2568C= (p.Ser856=) c.2709C= (p.Ser903=) c.2565C= (p.Ser855=) c.2706C= (p.Ser902=) | |
| X | g.100342042G>T | CA414000227 | PCDH19 | c.2568C>A (p.Ser856Arg) c.2709C>A (p.Ser903Arg) c.2565C>A (p.Ser855Arg) c.2706C>A (p.Ser902Arg) | |
| X | g.100342043C>A | CA414000229 | PCDH19 | c.2567G>T (p.Ser856Ile) c.2708G>T (p.Ser903Ile) c.2564G>T (p.Ser855Ile) c.2705G>T (p.Ser902Ile) | |
| X | g.100342043C>G | CA414000230 | PCDH19 | c.2567G>C (p.Ser856Thr) c.2708G>C (p.Ser903Thr) c.2564G>C (p.Ser855Thr) c.2705G>C (p.Ser902Thr) | |
| X | g.100342043C>T | CA414000232 | PCDH19 | c.2567G>A (p.Ser856Asn) c.2708G>A (p.Ser903Asn) c.2564G>A (p.Ser855Asn) c.2705G>A (p.Ser902Asn) | COSMIC COSMIC |
| X | g.100342044T>A | CA414000237 | PCDH19 | c.2566A>T (p.Ser856Cys) c.2707A>T (p.Ser903Cys) c.2563A>T (p.Ser855Cys) c.2704A>T (p.Ser902Cys) | |
| X | g.100342044T>C | CA414000234 | PCDH19 | c.2566A>G (p.Ser856Gly) c.2707A>G (p.Ser903Gly) c.2563A>G (p.Ser855Gly) c.2704A>G (p.Ser902Gly) | gnomAD v4 |
| X | g.100342044T>G | CA414000236 | PCDH19 | c.2566A>C (p.Ser856Arg) c.2707A>C (p.Ser903Arg) c.2563A>C (p.Ser855Arg) c.2704A>C (p.Ser902Arg) | |
| X | g.100342045G>A | CA517697143 | PCDH19 | c.2565C>T (p.Asn855=) c.2706C>T (p.Asn902=) c.2562C>T (p.Asn854=) c.2703C>T (p.Asn901=) | dbSNP |
| X | g.100342045G>C | CA414000239 | PCDH19 | c.2565C>G (p.Asn855Lys) c.2706C>G (p.Asn902Lys) c.2562C>G (p.Asn854Lys) c.2703C>G (p.Asn901Lys) | |
| X | g.100342045G= | CA2447955697 | PCDH19 | c.2565C= (p.Asn855=) c.2706C= (p.Asn902=) c.2562C= (p.Asn854=) c.2703C= (p.Asn901=) | |
| X | g.100342045G>T | CA414000240 | PCDH19 | c.2565C>A (p.Asn855Lys) c.2706C>A (p.Asn902Lys) c.2562C>A (p.Asn854Lys) c.2703C>A (p.Asn901Lys) | |
| X | g.100342046T>A | CA414000242 | PCDH19 | c.2564A>T (p.Asn855Ile) c.2705A>T (p.Asn902Ile) c.2561A>T (p.Asn854Ile) c.2702A>T (p.Asn901Ile) | |
| X | g.100342046T>C | CA414000244 | PCDH19 | c.2564A>G (p.Asn855Ser) c.2705A>G (p.Asn902Ser) c.2561A>G (p.Asn854Ser) c.2702A>G (p.Asn901Ser) | |
| X | g.100342046T>G | CA414000246 | PCDH19 | c.2564A>C (p.Asn855Thr) c.2705A>C (p.Asn902Thr) c.2561A>C (p.Asn854Thr) c.2702A>C (p.Asn901Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100342046T= | CA2447955698 | PCDH19 | c.2564A= (p.Asn855=) c.2705A= (p.Asn902=) c.2561A= (p.Asn854=) c.2702A= (p.Asn901=) | |
| X | g.100342047dup | CA2695236013 | PCDH19 | c.2564dup (p.Asn855LysfsTer6) c.2705dup (p.Asn902LysfsTer6) c.2561dup (p.Asn854LysfsTer6) c.2702dup (p.Asn901LysfsTer6) | |
| X | g.100342047T>A | CA414000247 | PCDH19 | c.2563A>T (p.Asn855Tyr) c.2704A>T (p.Asn902Tyr) c.2560A>T (p.Asn854Tyr) c.2701A>T (p.Asn901Tyr) | |
| X | g.100342047T>C | CA414000249 | PCDH19 | c.2563A>G (p.Asn855Asp) c.2704A>G (p.Asn902Asp) c.2560A>G (p.Asn854Asp) c.2701A>G (p.Asn901Asp) | |
| X | g.100342047T>G | CA414000248 | PCDH19 | c.2563A>C (p.Asn855His) c.2704A>C (p.Asn902His) c.2560A>C (p.Asn854His) c.2701A>C (p.Asn901His) | |
| X | g.100342048G>A | CA333821207 | PCDH19 | c.2562C>T (p.Gly854=) c.2703C>T (p.Gly901=) c.2559C>T (p.Gly853=) c.2700C>T (p.Gly900=) | dbSNP gnomAD v4 |
| X | g.100342048G>C | CA517697156 | PCDH19 | c.2562C>G (p.Gly854=) c.2703C>G (p.Gly901=) c.2559C>G (p.Gly853=) c.2700C>G (p.Gly900=) | |
| X | g.100342048G= | CA2447955699 | PCDH19 | c.2562C= (p.Gly854=) c.2703C= (p.Gly901=) c.2559C= (p.Gly853=) c.2700C= (p.Gly900=) | |
| X | g.100342048G>T | CA10468717 | PCDH19 | c.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 |
| X | g.100342049C>A | CA414000252 | PCDH19 | c.2561G>T (p.Gly854Val) c.2702G>T (p.Gly901Val) c.2558G>T (p.Gly853Val) c.2699G>T (p.Gly900Val) | |
| X | g.100342049C>G | CA414000254 | PCDH19 | c.2561G>C (p.Gly854Ala) c.2702G>C (p.Gly901Ala) c.2558G>C (p.Gly853Ala) c.2699G>C (p.Gly900Ala) | |
| X | g.100342049C>T | CA414000255 | PCDH19 | c.2561G>A (p.Gly854Asp) c.2702G>A (p.Gly901Asp) c.2558G>A (p.Gly853Asp) c.2699G>A (p.Gly900Asp) | gnomAD v4 |
| X | g.100342050C>A | CA414000256 | PCDH19 | c.2560G>T (p.Gly854Cys) c.2701G>T (p.Gly901Cys) c.2557G>T (p.Gly853Cys) c.2698G>T (p.Gly900Cys) | |
| X | g.100342050C>G | CA414000257 | PCDH19 | c.2560G>C (p.Gly854Arg) c.2701G>C (p.Gly901Arg) c.2557G>C (p.Gly853Arg) c.2698G>C (p.Gly900Arg) | |
| X | g.100342050C>T | CA414000259 | PCDH19 | c.2560G>A (p.Gly854Ser) c.2701G>A (p.Gly901Ser) c.2557G>A (p.Gly853Ser) c.2698G>A (p.Gly900Ser) | |
| X | g.100342051C>A | CA414000261 | PCDH19 | c.2559G>T (p.Glu853Asp) c.2700G>T (p.Glu900Asp) c.2556G>T (p.Glu852Asp) c.2697G>T (p.Glu899Asp) | |
| X | g.100342051C>G | CA414000262 | PCDH19 | c.2559G>C (p.Glu853Asp) c.2700G>C (p.Glu900Asp) c.2556G>C (p.Glu852Asp) c.2697G>C (p.Glu899Asp) | |
| X | g.100342051C>T | CA517697179 | PCDH19 | c.2559G>A (p.Glu853=) c.2700G>A (p.Glu900=) c.2556G>A (p.Glu852=) c.2697G>A (p.Glu899=) | |
| X | g.100342052T>A | CA414000263 | PCDH19 | c.2558A>T (p.Glu853Val) c.2699A>T (p.Glu900Val) c.2555A>T (p.Glu852Val) c.2696A>T (p.Glu899Val) | |
| X | g.100342052T>C | CA414000264 | PCDH19 | c.2558A>G (p.Glu853Gly) c.2699A>G (p.Glu900Gly) c.2555A>G (p.Glu852Gly) c.2696A>G (p.Glu899Gly) | |
| X | g.100342052T>G | CA414000266 | PCDH19 | c.2558A>C (p.Glu853Ala) c.2699A>C (p.Glu900Ala) c.2555A>C (p.Glu852Ala) c.2696A>C (p.Glu899Ala) | |
| X | g.100342052_100342053insGCTTCAGGTATGCACGGCGGAAACGGTAGTGAGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCAC | CA2822655083 | PCDH19 | c.2557_2558insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu853GlyfsTer36) c.2698_2699insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu900GlyfsTer36) c.2554_2555insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu852GlyfsTer36) c.2695_2696insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu899GlyfsTer36) | |
| X | g.100342052_100342053insGCTTCAGGTATGCGCGGCGGAAACGGTAGTGAGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCACCAGCCACAGGTACG | CA2822655084 | PCDH19 | c.2557_2558insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu853delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln) c.2698_2699insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu900delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln) c.2554_2555insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu852delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln) c.2695_2696insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu899delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln) | |
| X | g.100342052_100342053insGCTTCAGGTATGCGCGGCGGAAACGGTAGTGCGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCACCAGCCACAGGTACGCACCATCCGGGGAGAGCAGTGCGGCAATGAAG | CA2518144621 | PCDH19 | c.2557_2558insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu853AlafsTer17) c.2698_2699insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu900AlafsTer17) c.2554_2555insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu852AlafsTer17) c.2695_2696insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu899AlafsTer17) | |
| X | g.100342053C>A | CA414000270 | PCDH19 | c.2557G>T (p.Glu853Ter) c.2698G>T (p.Glu900Ter) c.2554G>T (p.Glu852Ter) c.2695G>T (p.Glu899Ter) | |
| X | g.100342053C= | CA2447955700 | PCDH19 | c.2557G= (p.Glu853=) c.2698G= (p.Glu900=) c.2554G= (p.Glu852=) c.2695G= (p.Glu899=) | |
| X | g.100342053C>G | CA333821208 | PCDH19 | c.2557G>C (p.Glu853Gln) c.2698G>C (p.Glu900Gln) c.2554G>C (p.Glu852Gln) c.2695G>C (p.Glu899Gln) | dbSNP gnomAD v4 |
| X | g.100342053C>T | CA414000268 | PCDH19 | c.2557G>A (p.Glu853Lys) c.2698G>A (p.Glu900Lys) c.2554G>A (p.Glu852Lys) c.2695G>A (p.Glu899Lys) | |
| X | g.100342054T>A | CA414000272 | PCDH19 | c.2556A>T (p.Leu852Phe) c.2697A>T (p.Leu899Phe) c.2553A>T (p.Leu851Phe) c.2694A>T (p.Leu898Phe) | |
| X | g.100342054T>C | CA517697190 | PCDH19 | c.2556A>G (p.Leu852=) c.2697A>G (p.Leu899=) c.2553A>G (p.Leu851=) c.2694A>G (p.Leu898=) | |
| X | g.100342054T>G | CA414000273 | PCDH19 | c.2556A>C (p.Leu852Phe) c.2697A>C (p.Leu899Phe) c.2553A>C (p.Leu851Phe) c.2694A>C (p.Leu898Phe) | |
| X | g.100342054dup | CA915951290 | PCDH19 | c.2556dup (p.Glu853ArgfsTer8) c.2697dup (p.Glu900ArgfsTer8) c.2553dup (p.Glu852ArgfsTer8) c.2694dup (p.Glu899ArgfsTer8) | ClinVar dbSNP |
| X | g.100342055A>C | CA414000275 | PCDH19 | c.2555T>G (p.Leu852Ter) c.2696T>G (p.Leu899Ter) c.2552T>G (p.Leu851Ter) c.2693T>G (p.Leu898Ter) | |
| X | g.100342055A>G | CA414000277 | PCDH19 | c.2555T>C (p.Leu852Ser) c.2696T>C (p.Leu899Ser) c.2552T>C (p.Leu851Ser) c.2693T>C (p.Leu898Ser) | |
| X | g.100342055A>T | CA414000278 | PCDH19 | c.2555T>A (p.Leu852Ter) c.2696T>A (p.Leu899Ter) c.2552T>A (p.Leu851Ter) c.2693T>A (p.Leu898Ter) | |
| X | g.100342056A>C | CA414000280 | PCDH19 | c.2554T>G (p.Leu852Val) c.2695T>G (p.Leu899Val) c.2551T>G (p.Leu851Val) c.2692T>G (p.Leu898Val) | |
| X | g.100342056A>G | CA517697197 | PCDH19 | c.2554T>C (p.Leu852=) c.2695T>C (p.Leu899=) c.2551T>C (p.Leu851=) c.2692T>C (p.Leu898=) | |
| X | g.100342056A>T | CA414000282 | PCDH19 | c.2554T>A (p.Leu852Ile) c.2695T>A (p.Leu899Ile) c.2551T>A (p.Leu851Ile) c.2692T>A (p.Leu898Ile) | |
| X | g.100342057G>A | CA206701 | PCDH19 | c.2553C>T (p.Asp851=) c.2694C>T (p.Asp898=) c.2550C>T (p.Asp850=) c.2691C>T (p.Asp897=) | ClinVar dbSNP ExAC gnomAD v4 |
| X | g.100342057G>C | CA414000284 | PCDH19 | c.2553C>G (p.Asp851Glu) c.2694C>G (p.Asp898Glu) c.2550C>G (p.Asp850Glu) c.2691C>G (p.Asp897Glu) | |
| X | g.100342057G= | CA2447955701 | PCDH19 | c.2553C= (p.Asp851=) c.2694C= (p.Asp898=) c.2550C= (p.Asp850=) c.2691C= (p.Asp897=) | |
| X | g.100342057G>T | CA414000286 | PCDH19 | c.2553C>A (p.Asp851Glu) c.2694C>A (p.Asp898Glu) c.2550C>A (p.Asp850Glu) c.2691C>A (p.Asp897Glu) | |
| X | g.100342058T>A | CA414000288 | PCDH19 | c.2552A>T (p.Asp851Val) c.2693A>T (p.Asp898Val) c.2549A>T (p.Asp850Val) c.2690A>T (p.Asp897Val) | |
| X | g.100342058T>C | CA414000289 | PCDH19 | c.2552A>G (p.Asp851Gly) c.2693A>G (p.Asp898Gly) c.2549A>G (p.Asp850Gly) c.2690A>G (p.Asp897Gly) | |
| X | g.100342058T>G | CA414000291 | PCDH19 | c.2552A>C (p.Asp851Ala) c.2693A>C (p.Asp898Ala) c.2549A>C (p.Asp850Ala) c.2690A>C (p.Asp897Ala) | |
| X | g.100342059C>A | CA414000296 | PCDH19 | c.2551G>T (p.Asp851Tyr) c.2692G>T (p.Asp898Tyr) c.2548G>T (p.Asp850Tyr) c.2689G>T (p.Asp897Tyr) | |
| X | g.100342059C>G | CA414000294 | PCDH19 | c.2551G>C (p.Asp851His) c.2692G>C (p.Asp898His) c.2548G>C (p.Asp850His) c.2689G>C (p.Asp897His) | |
| X | g.100342059C>T | CA414000293 | PCDH19 | c.2551G>A (p.Asp851Asn) c.2692G>A (p.Asp898Asn) c.2548G>A (p.Asp850Asn) c.2689G>A (p.Asp897Asn) | |
| X | g.100342060C>A | CA414000298 | PCDH19 | c.2550G>T (p.Lys850Asn) c.2691G>T (p.Lys897Asn) c.2547G>T (p.Lys849Asn) c.2688G>T (p.Lys896Asn) | |
| X | g.100342060C>G | CA414000299 | PCDH19 | c.2550G>C (p.Lys850Asn) c.2691G>C (p.Lys897Asn) c.2547G>C (p.Lys849Asn) c.2688G>C (p.Lys896Asn) | |
| X | g.100342060C>T | CA517697212 | PCDH19 | c.2550G>A (p.Lys850=) c.2691G>A (p.Lys897=) c.2547G>A (p.Lys849=) c.2688G>A (p.Lys896=) |