Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
X | g.25007159_25007193del | CA2693353157 | ARX | c.1371_1405del (p.Ala458SerfsTer?) | gnomAD v4 |
X | g.25007167_25007190delinsAGTGCTCAGGCCCAGCGGCGCCCC | CA2420207017 | ARX | c.1369_1392delinsGGGGCGCCGCTGGGCCTGAGCACT (p.Gly457=) | |
X | g.25007169_25007191del | CA915950804 | ARX | c.1369_1391del (p.Gly457PhefsTer?) | ClinVar dbSNP |
X | g.25007175_25007185delinsGGCCCAGCGGC | CA2420207021 | ARX | c.1374_1384delinsGCCGCTGGGCC (p.Ala458=) | |
X | g.25007175_25007186del | CA2579637287 | ARX | c.1373_1384del (p.Ala458_Leu462delinsVal) | |
X | g.25007180_25007189del | CA913191186 | ARX | c.1374_1383del (p.Pro459Ter) | ClinVar dbSNP |
X | g.25007179C>A | CA515946985 | ARX | c.1380G>T (p.Leu460=) | gnomAD v4 |
X | g.25007179C>G | CA515946986 | ARX | c.1380G>C (p.Leu460=) | |
X | g.25007179C>T | CA515946987 | ARX | c.1380G>A (p.Leu460=) | gnomAD v4 |
X | g.25007180A>C | CA412611138 | ARX | c.1379T>G (p.Leu460Arg) | |
X | g.25007180A>G | CA412611140 | ARX | c.1379T>C (p.Leu460Pro) | |
X | g.25007180A>T | CA412611139 | ARX | c.1379T>A (p.Leu460Gln) | |
X | g.25007181G>A | CA515946988 | ARX | c.1378C>T (p.Leu460=) | gnomAD v4 |
X | g.25007181G>C | CA412611141 | ARX | c.1378C>G (p.Leu460Val) | |
X | g.25007181G>T | CA412611142 | ARX | c.1378C>A (p.Leu460Met) | gnomAD v4 |
X | g.25007182C>A | CA10373807 | ARX | c.1377G>T (p.Pro459=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007182C= | CA2420207024 | ARX | c.1377G= (p.Pro459=) | |
X | g.25007182C>G | CA515946989 | ARX | c.1377G>C (p.Pro459=) | dbSNP |
X | g.25007182C>T | CA10373806 | ARX | c.1377G>A (p.Pro459=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007183G>A | CA412611143 | ARX | c.1376C>T (p.Pro459Leu) | gnomAD v4 |
X | g.25007183G>C | CA412611144 | ARX | c.1376C>G (p.Pro459Arg) | |
X | g.25007183G= | CA2420207025 | ARX | c.1376C= (p.Pro459=) | |
X | g.25007183G>T | CA412611145 | ARX | c.1376C>A (p.Pro459Gln) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25007184G>A | CA412611146 | ARX | c.1375C>T (p.Pro459Ser) | gnomAD v4 |
X | g.25007184G>C | CA412611147 | ARX | c.1375C>G (p.Pro459Ala) | |
X | g.25007184G>T | CA412611148 | ARX | c.1375C>A (p.Pro459Thr) | gnomAD v4 |
X | g.25007185C>A | CA515946990 | ARX | c.1374G>T (p.Ala458=) | gnomAD v4 |
X | g.25007185C= | CA2420207026 | ARX | c.1374G= (p.Ala458=) | |
X | g.25007185C>G | CA10373808 | ARX | c.1374G>C (p.Ala458=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007185C>T | CA327732613 | ARX | c.1374G>A (p.Ala458=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007186G>A | CA412611151 | ARX | c.1373C>T (p.Ala458Val) | gnomAD v4 |
X | g.25007186G>C | CA412611150 | ARX | c.1373C>G (p.Ala458Gly) | |
X | g.25007186G>T | CA412611149 | ARX | c.1373C>A (p.Ala458Glu) | gnomAD v4 |
X | g.25007186_25007187delinsGC | CA2420207027 | ARX | c.1372_1373delinsGC (p.Ala458=) | |
X | g.25007187C>A | CA412611152 | ARX | c.1372G>T (p.Ala458Ser) | gnomAD v4 |
X | g.25007187C= | CA2420207028 | ARX | c.1372G= (p.Ala458=) | |
X | g.25007187C>G | CA10373809 | ARX | c.1372G>C (p.Ala458Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007187C>T | CA412611153 | ARX | c.1372G>A (p.Ala458Thr) | ClinVar |
X | g.25007190del | CA213232 | ARX | c.1372del (p.Ala458ArgfsTer5) | ClinVar dbSNP gnomAD v4 |
X | g.25007188C>A | CA515946991 | ARX | c.1371G>T (p.Gly457=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25007188C= | CA2420207029 | ARX | c.1371G= (p.Gly457=) | |
X | g.25007188C>G | CA10373810 | ARX | c.1371G>C (p.Gly457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007188C>T | CA515946992 | ARX | c.1371G>A (p.Gly457=) | dbSNP |
X | g.25007189C>A | CA412611154 | ARX | c.1370G>T (p.Gly457Val) | gnomAD v4 |
X | g.25007189C>G | CA412611156 | ARX | c.1370G>C (p.Gly457Ala) | gnomAD v4 |
X | g.25007189C>T | CA412611155 | ARX | c.1370G>A (p.Gly457Glu) | gnomAD v4 |
X | g.25007189_25007190insAGCGGGGCGC | CA2579637292 | ARX | c.1370_1371insCGCCCCGCTG (p.Leu462AlafsTer?) | |
X | g.25007190C>A | CA412611157 | ARX | c.1369G>T (p.Gly457Trp) | |
X | g.25007190C>G | CA412611159 | ARX | c.1369G>C (p.Gly457Arg) | gnomAD v4 |