Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
X | g.25007416G>A | CA515947462 | ARX | c.1143C>T (p.Ala381=) | ClinVar gnomAD v4 |
X | g.25007416G>C | CA515947460 | ARX | c.1143C>G (p.Ala381=) | |
X | g.25007416G>T | CA515947458 | ARX | c.1143C>A (p.Ala381=) | gnomAD v4 |
X | g.25007417G>A | CA412611642 | ARX | c.1142C>T (p.Ala381Val) | gnomAD v4 |
X | g.25007417G>C | CA412611643 | ARX | c.1142C>G (p.Ala381Gly) | ClinVar |
X | g.25007417G>T | CA412611644 | ARX | c.1142C>A (p.Ala381Asp) | gnomAD v4 |
X | g.25007417_25007418delinsGC | CA2420207114 | ARX | c.1141_1142delinsGC (p.Ala381=) | |
X | g.25007418C>A | CA412611645 | ARX | c.1141G>T (p.Ala381Ser) | gnomAD v4 |
X | g.25007418C= | CA2420207115 | ARX | c.1141G= (p.Ala381=) | |
X | g.25007418C>G | CA412611646 | ARX | c.1141G>C (p.Ala381Pro) | |
X | g.25007418C>T | CA294628 | ARX | c.1141G>A (p.Ala381Thr) | ClinVar dbSNP gnomAD v4 |
X | g.25007420del | CA645373293 | ARX | c.1141del (p.Ala381ProfsTer?) | ClinVar dbSNP |
X | g.25007419C>A | CA515947466 | ARX | c.1140G>T (p.Arg380=) | gnomAD v4 |
X | g.25007419C>G | CA515947467 | ARX | c.1140G>C (p.Arg380=) | |
X | g.25007419C>T | CA515947468 | ARX | c.1140G>A (p.Arg380=) | gnomAD v4 |
X | g.25007420C>A | CA327732624 | ARX | c.1139G>T (p.Arg380Leu) | dbSNP gnomAD v4 |
X | g.25007420C= | CA2420207116 | ARX | c.1139G= (p.Arg380=) | |
X | g.25007420C>G | CA412611647 | ARX | c.1139G>C (p.Arg380Pro) | |
X | g.25007420C>T | CA412611648 | ARX | c.1139G>A (p.Arg380Gln) | gnomAD v4 |
X | g.25007421G>A | CA412611649 | ARX | c.1138C>T (p.Arg380Trp) | gnomAD v4 |
X | g.25007421G>C | CA412611650 | ARX | c.1138C>G (p.Arg380Gly) | |
X | g.25007421G>T | CA515947473 | ARX | c.1138C>A (p.Arg380=) | gnomAD v4 |
X | g.25007422A>C | CA515947475 | ARX | c.1137T>G (p.Arg379=) | |
X | g.25007422A>G | CA515947476 | ARX | c.1137T>C (p.Arg379=) | COSMIC |
X | g.25007422A>T | CA515947479 | ARX | c.1137T>A (p.Arg379=) | |
X | g.25007423C>A | CA412611653 | ARX | c.1136G>T (p.Arg379Leu) | gnomAD v4 |
X | g.25007423C>G | CA412611651 | ARX | c.1136G>C (p.Arg379Pro) | gnomAD v4 |
X | g.25007423C>T | CA412611652 | ARX | c.1136G>A (p.Arg379His) | gnomAD v4 |
X | g.25007424G>A | CA412611654 | ARX | c.1135C>T (p.Arg379Cys) | ClinVar dbSNP gnomAD v4 |
X | g.25007424G>C | CA412611655 | ARX | c.1135C>G (p.Arg379Gly) | ClinVar dbSNP |
X | g.25007424G= | CA2420207117 | ARX | c.1135C= (p.Arg379=) | |
X | g.25007424G>T | CA412611656 | ARX | c.1135C>A (p.Arg379Ser) | ClinVar dbSNP gnomAD v4 |
X | g.25007425G>A | CA515947507 | ARX | c.1134C>T (p.Asn378=) | gnomAD v4 |
X | g.25007425G>C | CA412611657 | ARX | c.1134C>G (p.Asn378Lys) | |
X | g.25007425G= | CA2420207118 | ARX | c.1134C= (p.Asn378=) | |
X | g.25007425G>T | CA213230 | ARX | c.1134C>A (p.Asn378Lys) | ClinVar dbSNP gnomAD v4 |
X | g.25007426T>A | CA412611658 | ARX | c.1133A>T (p.Asn378Ile) | gnomAD v4 |
X | g.25007426T>C | CA412611659 | ARX | c.1133A>G (p.Asn378Ser) | gnomAD v4 |
X | g.25007426T>G | CA412611660 | ARX | c.1133A>C (p.Asn378Thr) | |
X | g.25007427T>A | CA412611661 | ARX | c.1132A>T (p.Asn378Tyr) | |
X | g.25007427T>C | CA412611662 | ARX | c.1132A>G (p.Asn378Asp) | gnomAD v4 |
X | g.25007427T>G | CA412611663 | ARX | c.1132A>C (p.Asn378His) | |
X | g.25007428C>A | CA412611664 | ARX | c.1131G>T (p.Gln377His) | gnomAD v4 |
X | g.25007428C>G | CA412611665 | ARX | c.1131G>C (p.Gln377His) | |
X | g.25007428C>T | CA515947519 | ARX | c.1131G>A (p.Gln377=) | gnomAD v4 |
X | g.25007429T>A | CA412611666 | ARX | c.1130A>T (p.Gln377Leu) | gnomAD v4 |
X | g.25007429T>C | CA412611667 | ARX | c.1130A>G (p.Gln377Arg) | gnomAD v4 |
X | g.25007429T>G | CA412611668 | ARX | c.1130A>C (p.Gln377Pro) | |
X | g.25007429_25007430delinsTG | CA2420207119 | ARX | c.1129_1130delinsCA (p.Gln377=) |