Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25013208del | CA10605649 | ARX | c.790del (p.Arg264GlyfsTer?) | ClinVar dbSNP |
X | g.25013208G>A | CA412612425 | ARX | c.787C>T (p.Pro263Ser) | ClinVar dbSNP gnomAD v4 |
X | g.25013208G>C | CA412612426 | ARX | c.787C>G (p.Pro263Ala) | |
X | g.25013208G>T | CA412612427 | ARX | c.787C>A (p.Pro263Thr) | |
X | g.25013209C>A | CA412612429 | ARX | c.786G>T (p.Glu262Asp) | gnomAD v4 |
X | g.25013209C>G | CA412612428 | ARX | c.786G>C (p.Glu262Asp) | |
X | g.25013209C>T | CA515947445 | ARX | c.786G>A (p.Glu262=) | |
X | g.25013210T>A | CA412612430 | ARX | c.785A>T (p.Glu262Val) | |
X | g.25013210T>C | CA412612431 | ARX | c.785A>G (p.Glu262Gly) | |
X | g.25013210T>G | CA412612432 | ARX | c.785A>C (p.Glu262Ala) | |
X | g.25013211C>A | CA412612433 | ARX | c.784G>T (p.Glu262Ter) | |
X | g.25013211C>G | CA412612434 | ARX | c.784G>C (p.Glu262Gln) | |
X | g.25013211C>T | CA412612435 | ARX | c.784G>A (p.Glu262Lys) | COSMIC |
X | g.25013212C>A | CA412612436 | ARX | c.783G>T (p.Lys261Asn) | gnomAD v4 |
X | g.25013212C>G | CA412612437 | ARX | c.783G>C (p.Lys261Asn) | |
X | g.25013212C>T | CA515947451 | ARX | c.783G>A (p.Lys261=) | |
X | g.25013213T>A | CA412612438 | ARX | c.782A>T (p.Lys261Met) | |
X | g.25013213T>C | CA412612439 | ARX | c.782A>G (p.Lys261Arg) | |
X | g.25013213T>G | CA412612440 | ARX | c.782A>C (p.Lys261Thr) | |
X | g.25013214T>A | CA412612442 | ARX | c.781A>T (p.Lys261Ter) | |
X | g.25013214T>C | CA327733046 | ARX | c.781A>G (p.Lys261Glu) | ClinVar dbSNP |
X | g.25013214T>G | CA412612441 | ARX | c.781A>C (p.Lys261Gln) | |
X | g.25013214T= | CA2420209159 | ARX | c.781A= (p.Lys261=) | |
X | g.25013215G>A | CA10373878 | ARX | c.780C>T (p.Leu260=) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.25013215G>C | CA515947459 | ARX | c.780C>G (p.Leu260=) | |
X | g.25013215G= | CA2420209160 | ARX | c.780C= (p.Leu260=) | |
X | g.25013215G>T | CA515947461 | ARX | c.780C>A (p.Leu260=) | |
X | g.25013216A>C | CA412612443 | ARX | c.779T>G (p.Leu260Arg) | |
X | g.25013216A>G | CA412612444 | ARX | c.779T>C (p.Leu260Pro) | |
X | g.25013216A>T | CA412612445 | ARX | c.779T>A (p.Leu260His) | |
X | g.25013217G>A | CA412612446 | ARX | c.778C>T (p.Leu260Phe) | |
X | g.25013217G>C | CA412612447 | ARX | c.778C>G (p.Leu260Val) | |
X | g.25013217G>T | CA412612448 | ARX | c.778C>A (p.Leu260Ile) | |
X | g.25013218C>A | CA515947469 | ARX | c.777G>T (p.Leu259=) | gnomAD v4 |
X | g.25013218C>G | CA515947470 | ARX | c.777G>C (p.Leu259=) | |
X | g.25013218C>T | CA515947471 | ARX | c.777G>A (p.Leu259=) | gnomAD v4 |
X | g.25013219A= | CA2420209161 | ARX | c.776T= (p.Leu259=) | |
X | g.25013219A>C | CA412612449 | ARX | c.776T>G (p.Leu259Arg) | |
X | g.25013219A>G | CA10373879 | ARX | c.776T>C (p.Leu259Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013219A>T | CA412612450 | ARX | c.776T>A (p.Leu259Gln) | |
X | g.25013220G>A | CA515947474 | ARX | c.775C>T (p.Leu259=) | |
X | g.25013220G>C | CA412612451 | ARX | c.775C>G (p.Leu259Val) | |
X | g.25013220G>T | CA412612452 | ARX | c.775C>A (p.Leu259Met) | |
X | g.25013221C>A | CA515947478 | ARX | c.774G>T (p.Ala258=) | gnomAD v4 |
X | g.25013221C= | CA2420209162 | ARX | c.774G= (p.Ala258=) | |
X | g.25013221C>G | CA515947480 | ARX | c.774G>C (p.Ala258=) | ClinVar dbSNP gnomAD v4 |
X | g.25013221C>T | CA515947484 | ARX | c.774G>A (p.Ala258=) | gnomAD v4 |
X | g.25013222G>A | CA412612454 | ARX | c.773C>T (p.Ala258Val) | gnomAD v4 |
X | g.25013222G>C | CA10373880 | ARX | c.773C>G (p.Ala258Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |