Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
X | g.25007398C>A | CA412611599 | ARX | c.1161G>T (p.Glu387Asp) | gnomAD v4 |
X | g.25007398C= | CA2420207109 | ARX | c.1161G= (p.Glu387=) | |
X | g.25007398C>G | CA412611600 | ARX | c.1161G>C (p.Glu387Asp) | ClinVar |
X | g.25007398C>T | CA515947417 | ARX | c.1161G>A (p.Glu387=) | dbSNP gnomAD v4 |
X | g.25007399T>A | CA412611602 | ARX | c.1160A>T (p.Glu387Val) | |
X | g.25007399T>C | CA412611603 | ARX | c.1160A>G (p.Glu387Gly) | gnomAD v4 |
X | g.25007399T>G | CA412611601 | ARX | c.1160A>C (p.Glu387Ala) | |
X | g.25007400C>A | CA412611604 | ARX | c.1159G>T (p.Glu387Ter) | gnomAD v4 |
X | g.25007400C>G | CA412611605 | ARX | c.1159G>C (p.Glu387Gln) | gnomAD v4 |
X | g.25007400C>T | CA412611606 | ARX | c.1159G>A (p.Glu387Lys) | gnomAD v4 |
X | g.25007402del | CA2693353353 | ARX | c.1159del (p.Glu387ArgfsTer?) | gnomAD v4 |
X | g.25007401C>A | CA515947424 | ARX | c.1158G>T (p.Arg386=) | ClinVar gnomAD v4 |
X | g.25007401C= | CA2420207110 | ARX | c.1158G= (p.Arg386=) | |
X | g.25007401C>G | CA515947423 | ARX | c.1158G>C (p.Arg386=) | |
X | g.25007401C>T | CA515947425 | ARX | c.1158G>A (p.Arg386=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25007402C>A | CA412611607 | ARX | c.1157G>T (p.Arg386Leu) | gnomAD v4 |
X | g.25007402C>G | CA412611608 | ARX | c.1157G>C (p.Arg386Pro) | gnomAD v4 |
X | g.25007402C>T | CA412611609 | ARX | c.1157G>A (p.Arg386Gln) | gnomAD v4 |
X | g.25007403G>A | CA412611610 | ARX | c.1156C>T (p.Arg386Trp) | gnomAD v4 |
X | g.25007403G>C | CA412611611 | ARX | c.1156C>G (p.Arg386Gly) | |
X | g.25007403G>T | CA515947429 | ARX | c.1156C>A (p.Arg386=) | gnomAD v4 |
X | g.25007404C>A | CA412611612 | ARX | c.1155G>T (p.Lys385Asn) | gnomAD v4 |
X | g.25007404C= | CA2420207111 | ARX | c.1155G= (p.Lys385=) | |
X | g.25007404C>G | CA412611613 | ARX | c.1155G>C (p.Lys385Asn) | |
X | g.25007404C>T | CA327732623 | ARX | c.1155G>A (p.Lys385=) | ClinVar dbSNP gnomAD v4 |
X | g.25007405T>A | CA412611614 | ARX | c.1154A>T (p.Lys385Met) | gnomAD v4 |
X | g.25007405T>C | CA412611615 | ARX | c.1154A>G (p.Lys385Arg) | gnomAD v4 |
X | g.25007405T>G | CA412611616 | ARX | c.1154A>C (p.Lys385Thr) | |
X | g.25007406T>A | CA412611619 | ARX | c.1153A>T (p.Lys385Ter) | gnomAD v4 |
X | g.25007406T>C | CA412611618 | ARX | c.1153A>G (p.Lys385Glu) | gnomAD v4 |
X | g.25007406T>G | CA412611617 | ARX | c.1153A>C (p.Lys385Gln) | |
X | g.25007406_25007408delinsTGC | CA2420207112 | ARX | c.1151_1153delinsGCA (p.Arg384=) | |
X | g.25007407G>A | CA515947443 | ARX | c.1152C>T (p.Arg384=) | gnomAD v4 |
X | g.25007407G>C | CA515947438 | ARX | c.1152C>G (p.Arg384=) | gnomAD v4 |
X | g.25007407G>T | CA515947442 | ARX | c.1152C>A (p.Arg384=) | gnomAD v4 |
X | g.25007409_25007410del | CA224120 | ARX | c.1151_1152del (p.Arg384GlnfsTer?) | ClinVar dbSNP |
X | g.25007408C>A | CA412611620 | ARX | c.1151G>T (p.Arg384Leu) | ClinVar dbSNP gnomAD v4 |
X | g.25007408C= | CA2420207113 | ARX | c.1151G= (p.Arg384=) | |
X | g.25007408C>G | CA412611621 | ARX | c.1151G>C (p.Arg384Pro) | |
X | g.25007408C>T | CA16621885 | ARX | c.1151G>A (p.Arg384His) | ClinVar dbSNP gnomAD v4 |
X | g.25007409G>A | CA412611622 | ARX | c.1150C>T (p.Arg384Cys) | ClinVar gnomAD v4 |
X | g.25007409G>C | CA412611623 | ARX | c.1150C>G (p.Arg384Gly) | |
X | g.25007409G>T | CA412611624 | ARX | c.1150C>A (p.Arg384Ser) | gnomAD v4 |
X | g.25007410C>A | CA412611625 | ARX | c.1149G>T (p.Trp383Cys) | gnomAD v4 |
X | g.25007410C>G | CA412611626 | ARX | c.1149G>C (p.Trp383Cys) | gnomAD v4 |
X | g.25007410C>T | CA412611627 | ARX | c.1149G>A (p.Trp383Ter) | gnomAD v4 |
X | g.25007411C>A | CA412611628 | ARX | c.1148G>T (p.Trp383Leu) | gnomAD v4 |
X | g.25007411C>G | CA412611629 | ARX | c.1148G>C (p.Trp383Ser) | |
X | g.25007411C>T | CA412611630 | ARX | c.1148G>A (p.Trp383Ter) |