Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25013139C>A | CA412612300 | ARX | c.856G>T (p.Gly286Cys) | gnomAD v4 |
X | g.25013139C= | CA2420209122 | ARX | c.856G= (p.Gly286=) | |
X | g.25013139C>G | CA412612301 | ARX | c.856G>C (p.Gly286Arg) | |
X | g.25013139C>T | CA213173 | ARX | c.856G>A (p.Gly286Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013140C>A | CA412612302 | ARX | c.855G>T (p.Glu285Asp) | |
X | g.25013140C= | CA2420209123 | ARX | c.855G= (p.Glu285=) | |
X | g.25013140C>G | CA412612303 | ARX | c.855G>C (p.Glu285Asp) | |
X | g.25013140C>T | CA10373870 | ARX | c.855G>A (p.Glu285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013141T>A | CA412612304 | ARX | c.854A>T (p.Glu285Val) | |
X | g.25013141T>C | CA412612305 | ARX | c.854A>G (p.Glu285Gly) | |
X | g.25013141T>G | CA412612306 | ARX | c.854A>C (p.Glu285Ala) | |
X | g.25013142C>A | CA412612307 | ARX | c.853G>T (p.Glu285Ter) | |
X | g.25013142C>G | CA412612308 | ARX | c.853G>C (p.Glu285Gln) | |
X | g.25013142C>T | CA412612309 | ARX | c.853G>A (p.Glu285Lys) | |
X | g.25013143T>A | CA515947409 | ARX | c.852A>T (p.Thr284=) | |
X | g.25013143T>C | CA515947410 | ARX | c.852A>G (p.Thr284=) | |
X | g.25013143T>G | CA515947411 | ARX | c.852A>C (p.Thr284=) | |
X | g.25013143_25013145del | CA2534096011 | ARX | c.850_852del (p.Thr284del) | |
X | g.25013145_25013146del | CA2579576417 | ARX | c.851_852del (p.Thr284ArgfsTer19) | |
X | g.25013144G>A | CA412612310 | ARX | c.851C>T (p.Thr284Ile) | gnomAD v4 |
X | g.25013144G>C | CA412612311 | ARX | c.851C>G (p.Thr284Arg) | |
X | g.25013144G= | CA2420209124 | ARX | c.851C= (p.Thr284=) | |
X | g.25013144G>T | CA171164 | ARX | c.851C>A (p.Thr284Lys) | ClinVar dbSNP gnomAD v4 |
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 |