| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.41136884_41136887delinsACTT | CA2425806604 | USP9X | c.516_519delinsACTT (p.Glu172=) | |
| X | g.41136885C>A | CA412763053 | USP9X | c.517C>A (p.Leu173Ile) | |
| X | g.41136885C>G | CA412763055 | USP9X | c.517C>G (p.Leu173Val) | |
| X | g.41136885C>T | CA412763050 | USP9X | c.517C>T (p.Leu173Phe) | |
| X | g.41136888_41136890del | CA16043269 | USP9X | c.520_522del (p.Leu174del) | ClinVar dbSNP |
| X | g.41136886T>A | CA412763057 | USP9X | c.518T>A (p.Leu173His) | |
| X | g.41136886T>C | CA412763058 | USP9X | c.518T>C (p.Leu173Pro) | |
| X | g.41136886T>G | CA412763059 | USP9X | c.518T>G (p.Leu173Arg) | |
| X | g.41136887T>A | CA515966413 | USP9X | c.519T>A (p.Leu173=) | |
| X | g.41136887T>C | CA515966414 | USP9X | c.519T>C (p.Leu173=) | |
| X | g.41136887T>G | CA515966415 | USP9X | c.519T>G (p.Leu173=) | |
| X | g.41136888C>A | CA412763060 | USP9X | c.520C>A (p.Leu174Ile) | |
| X | g.41136888C>G | CA412763062 | USP9X | c.520C>G (p.Leu174Val) | |
| X | g.41136888C>T | CA412763064 | USP9X | c.520C>T (p.Leu174Phe) | |
| X | g.41136889T>A | CA412763066 | USP9X | c.521T>A (p.Leu174His) | |
| X | g.41136889T>C | CA412763068 | USP9X | c.521T>C (p.Leu174Pro) | |
| X | g.41136889T>G | CA412763071 | USP9X | c.521T>G (p.Leu174Arg) | |
| X | g.41136890T>A | CA515966416 | USP9X | c.522T>A (p.Leu174=) | |
| X | g.41136890T>C | CA515966417 | USP9X | c.522T>C (p.Leu174=) | |
| X | g.41136890T>G | CA515966418 | USP9X | c.522T>G (p.Leu174=) | |
| X | g.41136891G>A | CA412763074 | USP9X | c.523G>A (p.Ala175Thr) | |
| X | g.41136891G>C | CA412763081 | USP9X | c.523G>C (p.Ala175Pro) | |
| X | g.41136891G>T | CA412763077 | USP9X | c.523G>T (p.Ala175Ser) | gnomAD v4 |
| X | g.41136892C>A | CA412763085 | USP9X | c.524C>A (p.Ala175Asp) | |
| X | g.41136892C>G | CA412763087 | USP9X | c.524C>G (p.Ala175Gly) | |
| X | g.41136892C>T | CA412763091 | USP9X | c.524C>T (p.Ala175Val) | |
| X | g.41136893C>A | CA515966423 | USP9X | c.525C>A (p.Ala175=) | ClinVar |
| X | g.41136893C= | CA2425806605 | USP9X | c.525C= (p.Ala175=) | |
| X | g.41136893C>G | CA10388324 | USP9X | c.525C>G (p.Ala175=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.41136893C>T | CA515966424 | USP9X | c.525C>T (p.Ala175=) | |
| X | g.41136894A= | CA2425806606 | USP9X | c.526A= (p.Met176=) | |
| X | g.41136894A>C | CA412763094 | USP9X | c.526A>C (p.Met176Leu) | |
| X | g.41136894A>G | CA412763098 | USP9X | c.526A>G (p.Met176Val) | |
| X | g.41136894A>T | CA412763100 | USP9X | c.526A>T (p.Met176Leu) | dbSNP gnomAD v4 |
| X | g.41136895T>A | CA412763110 | USP9X | c.527T>A (p.Met176Lys) | |
| X | g.41136895T>C | CA412763104 | USP9X | c.527T>C (p.Met176Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.41136895T>G | CA412763108 | USP9X | c.527T>G (p.Met176Arg) | |
| X | g.41136895T= | CA2425806607 | USP9X | c.527T= (p.Met176=) | |
| X | g.41136896G>A | CA412763115 | USP9X | c.528G>A (p.Met176Ile) | |
| X | g.41136896G>C | CA412763119 | USP9X | c.528G>C (p.Met176Ile) | |
| X | g.41136896G>T | CA412763116 | USP9X | c.528G>T (p.Met176Ile) | |
| X | g.41136897G>A | CA412763124 | USP9X | c.529G>A (p.Ala177Thr) | gnomAD v4 |
| X | g.41136897G>C | CA412763128 | USP9X | c.529G>C (p.Ala177Pro) | |
| X | g.41136897G>T | CA412763126 | USP9X | c.529G>T (p.Ala177Ser) | |
| X | g.41136898C>A | CA412763131 | USP9X | c.530C>A (p.Ala177Asp) | |
| X | g.41136898C>G | CA412763137 | USP9X | c.530C>G (p.Ala177Gly) | |
| X | g.41136898C>T | CA412763134 | USP9X | c.530C>T (p.Ala177Val) | gnomAD v4 |
| X | g.41136899C>A | CA515966436 | USP9X | c.531C>A (p.Ala177=) | |
| X | g.41136899C>G | CA515966437 | USP9X | c.531C>G (p.Ala177=) | |
| X | g.41136899C>T | CA515966438 | USP9X | c.531C>T (p.Ala177=) | gnomAD v4 |