Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
X | g.25007276_25007283dup | CA2739290435 | ARX | c.1277_1284dup (p.Ala429SerfsTer?) | |
X | g.25007279T>A | CA412611342 | ARX | c.1280A>T (p.Asp427Val) | |
X | g.25007279T>C | CA412611343 | ARX | c.1280A>G (p.Asp427Gly) | gnomAD v4 |
X | g.25007279T>G | CA412611344 | ARX | c.1280A>C (p.Asp427Ala) | |
X | g.25007280C>A | CA412611345 | ARX | c.1279G>T (p.Asp427Tyr) | gnomAD v4 |
X | g.25007280C>G | CA412611347 | ARX | c.1279G>C (p.Asp427His) | |
X | g.25007280C>T | CA412611346 | ARX | c.1279G>A (p.Asp427Asn) | gnomAD v4 |
X | g.25007282_25007288del | CA2740092068 | ARX | c.1273_1279del (p.Ala425ThrfsTer?) | ClinVar |
X | g.25007281G>A | CA515947061 | ARX | c.1278C>T (p.Leu426=) | gnomAD v4 |
X | g.25007281G>C | CA515947062 | ARX | c.1278C>G (p.Leu426=) | ClinVar dbSNP gnomAD v4 |
X | g.25007281G= | CA2420207067 | ARX | c.1278C= (p.Leu426=) | |
X | g.25007281G>T | CA515947063 | ARX | c.1278C>A (p.Leu426=) | gnomAD v4 |
X | g.25007282A>C | CA412611348 | ARX | c.1277T>G (p.Leu426Arg) | |
X | g.25007282A>G | CA412611349 | ARX | c.1277T>C (p.Leu426Pro) | gnomAD v4 |
X | g.25007282A>T | CA412611350 | ARX | c.1277T>A (p.Leu426His) | gnomAD v4 |
X | g.25007283G>A | CA412611351 | ARX | c.1276C>T (p.Leu426Phe) | gnomAD v4 |
X | g.25007283G>C | CA412611352 | ARX | c.1276C>G (p.Leu426Val) | |
X | g.25007283G>T | CA412611353 | ARX | c.1276C>A (p.Leu426Ile) | |
X | g.25007284C>A | CA515947064 | ARX | c.1275G>T (p.Ala425=) | ClinVar dbSNP gnomAD v4 |
X | g.25007284C= | CA2420207068 | ARX | c.1275G= (p.Ala425=) | |
X | g.25007284C>G | CA515947065 | ARX | c.1275G>C (p.Ala425=) | dbSNP |
X | g.25007284C>T | CA515947066 | ARX | c.1275G>A (p.Ala425=) | gnomAD v4 |
X | g.25007285G>A | CA412611354 | ARX | c.1274C>T (p.Ala425Val) | gnomAD v4 |
X | g.25007285G>C | CA412611355 | ARX | c.1274C>G (p.Ala425Gly) | |
X | g.25007285G>T | CA412611356 | ARX | c.1274C>A (p.Ala425Glu) | gnomAD v4 |
X | g.25007286C>A | CA412611358 | ARX | c.1273G>T (p.Ala425Ser) | |
X | g.25007286C= | CA2420207069 | ARX | c.1273G= (p.Ala425=) | |
X | g.25007286C>G | CA412611359 | ARX | c.1273G>C (p.Ala425Pro) | |
X | g.25007286C>T | CA412611357 | ARX | c.1273G>A (p.Ala425Thr) | ClinVar dbSNP gnomAD v4 |
X | g.25007287C>A | CA10373821 | ARX | c.1272G>T (p.Pro424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007287C= | CA2420207070 | ARX | c.1272G= (p.Pro424=) | |
X | g.25007287C>G | CA515947067 | ARX | c.1272G>C (p.Pro424=) | |
X | g.25007287C>T | CA224121 | ARX | c.1272G>A (p.Pro424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007288G>A | CA412611360 | ARX | c.1271C>T (p.Pro424Leu) | ClinVar dbSNP gnomAD v4 |
X | g.25007288G>C | CA412611361 | ARX | c.1271C>G (p.Pro424Arg) | |
X | g.25007288G>T | CA412611362 | ARX | c.1271C>A (p.Pro424Gln) | dbSNP |
X | g.25007289G>A | CA412611363 | ARX | c.1270C>T (p.Pro424Ser) | |
X | g.25007289G>C | CA412611364 | ARX | c.1270C>G (p.Pro424Ala) | ClinVar dbSNP |
X | g.25007289G>T | CA412611365 | ARX | c.1270C>A (p.Pro424Thr) | gnomAD v4 |
X | g.25007293_25007295del | CA2580616912 | ARX | c.1268_1270del (p.His423del) | ClinVar dbSNP |
X | g.25007290G>A | CA245473 | ARX | c.1269C>T (p.His423=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007290G>C | CA412611366 | ARX | c.1269C>G (p.His423Gln) | gnomAD v4 |
X | g.25007290G= | CA2420207071 | ARX | c.1269C= (p.His423=) | |
X | g.25007290G>T | CA412611367 | ARX | c.1269C>A (p.His423Gln) | gnomAD v4 |
X | g.25007291T>A | CA412611369 | ARX | c.1268A>T (p.His423Leu) | |
X | g.25007291T>C | CA412611370 | ARX | c.1268A>G (p.His423Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25007291T>G | CA412611368 | ARX | c.1268A>C (p.His423Pro) | |
X | g.25007291T= | CA2420207072 | ARX | c.1268A= (p.His423=) | |
X | g.25007292G>A | CA412611371 | ARX | c.1267C>T (p.His423Tyr) | gnomAD v4 |