Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25013538_25013619del | CA2580100527 | ARX | c.378_459del (p.Pro127ArgfsTer14) | ClinVar |
X | g.25013547_25013607del | CA2695232872 | ARX | c.392_452del (p.Pro131ArgfsTer17) | |
X | g.25013598C>A | CA412613264 | ARX | c.397G>T (p.Ala133Ser) | |
X | g.25013598C>G | CA412613265 | ARX | c.397G>C (p.Ala133Pro) | |
X | g.25013598C>T | CA412613266 | ARX | c.397G>A (p.Ala133Thr) | gnomAD v4 |
X | g.25013598_25013599insTCAAGATC | CA2820100857 | ARX | c.397_398insATCTTGAG (p.Ala133AspfsTer?) | |
X | g.25013599G>A | CA515947813 | ARX | c.396C>T (p.Thr132=) | |
X | g.25013599G>C | CA515947814 | ARX | c.396C>G (p.Thr132=) | |
X | g.25013599G>T | CA515947816 | ARX | c.396C>A (p.Thr132=) | ClinVar dbSNP gnomAD v4 |
X | g.25013600G>A | CA412613267 | ARX | c.395C>T (p.Thr132Ile) | ClinVar dbSNP |
X | g.25013600G>C | CA412613268 | ARX | c.395C>G (p.Thr132Ser) | |
X | g.25013600G= | CA2420209347 | ARX | c.395C= (p.Thr132=) | |
X | g.25013600G>T | CA412613269 | ARX | c.395C>A (p.Thr132Asn) | |
X | g.25013601T>A | CA412613270 | ARX | c.394A>T (p.Thr132Ser) | |
X | g.25013601T>C | CA412613271 | ARX | c.394A>G (p.Thr132Ala) | |
X | g.25013601T>G | CA412613272 | ARX | c.394A>C (p.Thr132Pro) | |
X | g.25013602T>A | CA515947818 | ARX | c.393A>T (p.Pro131=) | |
X | g.25013602T>C | CA515947819 | ARX | c.393A>G (p.Pro131=) | gnomAD v4 |
X | g.25013602T>G | CA515947820 | ARX | c.393A>C (p.Pro131=) | |
X | g.25013603G>A | CA412613275 | ARX | c.392C>T (p.Pro131Leu) | |
X | g.25013603G>C | CA412613274 | ARX | c.392C>G (p.Pro131Arg) | |
X | g.25013603G>T | CA412613273 | ARX | c.392C>A (p.Pro131Gln) | |
X | g.25013604G>A | CA412613276 | ARX | c.391C>T (p.Pro131Ser) | |
X | g.25013604G>C | CA412613277 | ARX | c.391C>G (p.Pro131Ala) | |
X | g.25013604G>T | CA412613278 | ARX | c.391C>A (p.Pro131Thr) | |
X | g.25013606_25013640del | CA2580100528 | ARX | c.357_391del (p.Gly120AsnfsTer?) | ClinVar |
X | g.25013605C>A | CA515947826 | ARX | c.390G>T (p.Pro130=) | ClinVar dbSNP gnomAD v4 |
X | g.25013605C>G | CA515947827 | ARX | c.390G>C (p.Pro130=) | |
X | g.25013605C>T | CA515947830 | ARX | c.390G>A (p.Pro130=) | gnomAD v4 |
X | g.25013606G>A | CA412613279 | ARX | c.389C>T (p.Pro130Leu) | ClinVar dbSNP gnomAD v4 |
X | g.25013606G>C | CA412613280 | ARX | c.389C>G (p.Pro130Arg) | |
X | g.25013606G= | CA2420209348 | ARX | c.389C= (p.Pro130=) | |
X | g.25013606G>T | CA16621351 | ARX | c.389C>A (p.Pro130Gln) | ClinVar dbSNP gnomAD v4 |
X | g.25013607G>A | CA412613281 | ARX | c.388C>T (p.Pro130Ser) | gnomAD v4 |
X | g.25013607G>C | CA412613282 | ARX | c.388C>G (p.Pro130Ala) | |
X | g.25013607G>T | CA412613283 | ARX | c.388C>A (p.Pro130Thr) | ClinVar gnomAD v4 |
X | g.25013608T>A | CA515947836 | ARX | c.387A>T (p.Pro129=) | |
X | g.25013608T>C | CA515947840 | ARX | c.387A>G (p.Pro129=) | |
X | g.25013608T>G | CA515947838 | ARX | c.387A>C (p.Pro129=) | ClinVar dbSNP |
X | g.25013608T= | CA2420209349 | ARX | c.387A= (p.Pro129=) | |
X | g.25013609G>A | CA412613284 | ARX | c.386C>T (p.Pro129Leu) | gnomAD v4 |
X | g.25013609G>C | CA412613285 | ARX | c.386C>G (p.Pro129Arg) | |
X | g.25013609G>T | CA412613286 | ARX | c.386C>A (p.Pro129Gln) | |
X | g.25013611_25013616dup | CA2693353731 | ARX | c.381_386dup (p.Pro129_Pro130insProPro) | gnomAD v4 |
X | g.25013614_25013616del | CA2579576421 | ARX | c.384_386del (p.Pro129del) | |
X | g.25013610G>A | CA412613289 | ARX | c.385C>T (p.Pro129Ser) | |
X | g.25013610G>C | CA412613287 | ARX | c.385C>G (p.Pro129Ala) | |
X | g.25013610G>T | CA412613288 | ARX | c.385C>A (p.Pro129Thr) | gnomAD v4 |
X | g.25013611C>A | CA515947847 | ARX | c.384G>T (p.Pro128=) |