Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25013143_25013145del | CA2534096011 | ARX | c.850_852del (p.Thr284del) | |
X | g.25013145_25013146del | CA2579576417 | ARX | c.851_852del (p.Thr284ArgfsTer19) | |
X | g.25013145T>A | CA412612312 | ARX | c.850A>T (p.Thr284Ser) | |
X | g.25013145T>C | CA412612313 | ARX | c.850A>G (p.Thr284Ala) | |
X | g.25013145T>G | CA412612314 | ARX | c.850A>C (p.Thr284Pro) | |
X | g.25013146G>A | CA515947419 | ARX | c.849C>T (p.Ala283=) | gnomAD v4 |
X | g.25013146G>C | CA515947421 | ARX | c.849C>G (p.Ala283=) | |
X | g.25013146G>T | CA515947420 | ARX | c.849C>A (p.Ala283=) | |
X | g.25013147G>A | CA412612315 | ARX | c.848C>T (p.Ala283Val) | |
X | g.25013147G>C | CA327733041 | ARX | c.848C>G (p.Ala283Gly) | dbSNP gnomAD v4 |
X | g.25013147G= | CA2420209125 | ARX | c.848C= (p.Ala283=) | |
X | g.25013147G>T | CA412612316 | ARX | c.848C>A (p.Ala283Asp) | gnomAD v4 |
X | g.25013148C>A | CA10373871 | ARX | c.847G>T (p.Ala283Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25013148C= | CA2420209126 | ARX | c.847G= (p.Ala283=) | |
X | g.25013148C>G | CA412612317 | ARX | c.847G>C (p.Ala283Pro) | |
X | g.25013148C>T | CA412612318 | ARX | c.847G>A (p.Ala283Thr) | |
X | g.25013149C>A | CA515947435 | ARX | c.846G>T (p.Val282=) | |
X | g.25013149C>G | CA515947436 | ARX | c.846G>C (p.Val282=) | |
X | g.25013149C>T | CA515947437 | ARX | c.846G>A (p.Val282=) | gnomAD v4 |
X | g.25013150A= | CA2420209127 | ARX | c.845T= (p.Val282=) | |
X | g.25013150A>C | CA412612319 | ARX | c.845T>G (p.Val282Gly) | |
X | g.25013150A>G | CA412612320 | ARX | c.845T>C (p.Val282Ala) | |
X | g.25013150A>T | CA412612321 | ARX | c.845T>A (p.Val282Glu) | ClinVar dbSNP gnomAD v4 |
X | g.25013151C>A | CA412612322 | ARX | c.844G>T (p.Val282Leu) | |
X | g.25013151C>G | CA412612323 | ARX | c.844G>C (p.Val282Leu) | |
X | g.25013151C>T | CA412612324 | ARX | c.844G>A (p.Val282Met) | gnomAD v4 |
X | g.25013152T>A | CA515947444 | ARX | c.843A>T (p.Ala281=) | |
X | g.25013152T>C | CA515947447 | ARX | c.843A>G (p.Ala281=) | gnomAD v4 |
X | g.25013152T>G | CA515947446 | ARX | c.843A>C (p.Ala281=) | |
X | g.25013152_25013156del | CA2511077634 | ARX | c.839_843del (p.Ala280GlyfsTer22) | |
X | g.25013153G>A | CA412612327 | ARX | c.842C>T (p.Ala281Val) | |
X | g.25013153G>C | CA412612326 | ARX | c.842C>G (p.Ala281Gly) | |
X | g.25013153G>T | CA412612325 | ARX | c.842C>A (p.Ala281Glu) | |
X | g.25013154C>A | CA412612328 | ARX | c.841G>T (p.Ala281Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25013154C= | CA2420209128 | ARX | c.841G= (p.Ala281=) | |
X | g.25013154C>G | CA412612329 | ARX | c.841G>C (p.Ala281Pro) | |
X | g.25013154C>T | CA412612330 | ARX | c.841G>A (p.Ala281Thr) | gnomAD v4 |
X | g.25013155A= | CA2420209129 | ARX | c.840T= (p.Ala280=) | |
X | g.25013155A>C | CA515947448 | ARX | c.840T>G (p.Ala280=) | |
X | g.25013155A>G | CA327733042 | ARX | c.840T>C (p.Ala280=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013155A>T | CA515947449 | ARX | c.840T>A (p.Ala280=) | |
X | g.25013156G>A | CA412612331 | ARX | c.839C>T (p.Ala280Val) | |
X | g.25013156G>C | CA412612332 | ARX | c.839C>G (p.Ala280Gly) | |
X | g.25013156G>T | CA412612333 | ARX | c.839C>A (p.Ala280Asp) | gnomAD v4 |
X | g.25013161_25013190del | CA2693353413 | ARX | c.810_839del (p.Thr271_Ala280del) | gnomAD v4 |
X | g.25013157C>A | CA412612334 | ARX | c.838G>T (p.Ala280Ser) | |
X | g.25013157C>G | CA412612335 | ARX | c.838G>C (p.Ala280Pro) | ClinVar |
X | g.25013157C>T | CA412612336 | ARX | c.838G>A (p.Ala280Thr) | gnomAD v4 |
X | g.25013158G>A | CA515947455 | ARX | c.837C>T (p.Ala279=) | gnomAD v4 |