Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
X | g.25007205_25007233del | CA2693353159 | ARX | c.1327_1355del (p.Ser443ProfsTer?) | gnomAD v4 |
X | g.25007226_25007278dup | CA1139667342 | ARX | c.1287_1339dup (p.Pro447LeufsTer34) | ClinVar dbSNP |
X | g.25007229G>A | CA515947025 | ARX | c.1330C>T (p.Leu444=) | ClinVar |
X | g.25007229G>C | CA412611236 | ARX | c.1330C>G (p.Leu444Val) | |
X | g.25007229G>T | CA412611237 | ARX | c.1330C>A (p.Leu444Ile) | gnomAD v4 |
X | g.25007230G>A | CA515947026 | ARX | c.1329C>T (p.Ser443=) | gnomAD v4 |
X | g.25007230G>C | CA412611238 | ARX | c.1329C>G (p.Ser443Arg) | |
X | g.25007230G>T | CA412611239 | ARX | c.1329C>A (p.Ser443Arg) | dbSNP gnomAD v4 |
X | g.25007231C>A | CA412611240 | ARX | c.1328G>T (p.Ser443Ile) | gnomAD v4 |
X | g.25007231C>G | CA412611241 | ARX | c.1328G>C (p.Ser443Thr) | |
X | g.25007231C>T | CA412611242 | ARX | c.1328G>A (p.Ser443Asn) | |
X | g.25007232T>A | CA412611245 | ARX | c.1327A>T (p.Ser443Cys) | gnomAD v4 |
X | g.25007232T>C | CA412611244 | ARX | c.1327A>G (p.Ser443Gly) | ClinVar dbSNP gnomAD v4 |
X | g.25007232T>G | CA412611243 | ARX | c.1327A>C (p.Ser443Arg) | |
X | g.25007232T= | CA2420207043 | ARX | c.1327A= (p.Ser443=) | |
X | g.25007233C>A | CA515947027 | ARX | c.1326G>T (p.Pro442=) | gnomAD v4 |
X | g.25007233C= | CA2420207044 | ARX | c.1326G= (p.Pro442=) | |
X | g.25007233C>G | CA515947028 | ARX | c.1326G>C (p.Pro442=) | ClinVar dbSNP |
X | g.25007233C>T | CA10373815 | ARX | c.1326G>A (p.Pro442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007234G>A | CA412611246 | ARX | c.1325C>T (p.Pro442Leu) | ClinVar dbSNP gnomAD v4 |
X | g.25007234G>C | CA412611247 | ARX | c.1325C>G (p.Pro442Arg) | gnomAD v4 |
X | g.25007234G= | CA2420207045 | ARX | c.1325C= (p.Pro442=) | |
X | g.25007234G>T | CA412611248 | ARX | c.1325C>A (p.Pro442Gln) | gnomAD v4 |
X | g.25007236del | CA2579637312 | ARX | c.1325del (p.Pro442ArgfsTer21) | |
X | g.25007235G>A | CA412611249 | ARX | c.1324C>T (p.Pro442Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25007235G>C | CA412611250 | ARX | c.1324C>G (p.Pro442Ala) | |
X | g.25007235G= | CA2420207046 | ARX | c.1324C= (p.Pro442=) | |
X | g.25007235G>T | CA412611251 | ARX | c.1324C>A (p.Pro442Thr) | gnomAD v4 |
X | g.25007236G>A | CA327732615 | ARX | c.1323C>T (p.Phe441=) | ClinVar dbSNP |
X | g.25007236G>C | CA412611252 | ARX | c.1323C>G (p.Phe441Leu) | |
X | g.25007236G= | CA2420207047 | ARX | c.1323C= (p.Phe441=) | |
X | g.25007236G>T | CA412611253 | ARX | c.1323C>A (p.Phe441Leu) | |
X | g.25007237A>C | CA412611254 | ARX | c.1322T>G (p.Phe441Cys) | |
X | g.25007237A>G | CA412611255 | ARX | c.1322T>C (p.Phe441Ser) | gnomAD v4 |
X | g.25007237A>T | CA412611256 | ARX | c.1322T>A (p.Phe441Tyr) | |
X | g.25007238A= | CA2420207049 | ARX | c.1321T= (p.Phe441=) | |
X | g.25007238A>C | CA10604061 | ARX | c.1321T>G (p.Phe441Val) | ClinVar dbSNP |
X | g.25007238A>G | CA412611258 | ARX | c.1321T>C (p.Phe441Leu) | gnomAD v4 |
X | g.25007238A>T | CA412611257 | ARX | c.1321T>A (p.Phe441Ile) | |
X | g.25007238_25007250delinsAGGCGGCGGCGGC | CA2420207048 | ARX | c.1309_1321delinsGCCGCCGCCGCCT (p.Ala437=) | |
X | g.25007239G>A | CA515947031 | ARX | c.1320C>T (p.Ala440=) | ClinVar gnomAD v4 |
X | g.25007239G>C | CA515947032 | ARX | c.1320C>G (p.Ala440=) | |
X | g.25007239G>T | CA515947030 | ARX | c.1320C>A (p.Ala440=) | gnomAD v4 |
X | g.25007257_25007259dup | CA233282 | ARX | c.1318_1320dup (p.Ala440_Phe441insAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007254_25007259dup | CA515947029 | ARX | c.1315_1320dup (p.Ala440_Phe441insAlaAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007251_25007259dup | CA641364595 | ARX | c.1312_1320dup (p.Ala440_Phe441insAlaAlaAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007248_25007259dup | CA2420207051 | ARX | c.1309_1320dup (p.Ala440_Phe441insAlaAlaAlaAla) | dbSNP |
X | g.25007257_25007259del | CA10373816 | ARX | c.1318_1320del (p.Ala440del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007254_25007259del | CA2420207050 | ARX | c.1315_1320del (p.Ala439_Ala440del) | ClinVar dbSNP gnomAD v4 |