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.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=) |