Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
X | g.25007316C>A | CA412611425 | ARX | c.1243G>T (p.Asp415Tyr) | |
X | g.25007316C>G | CA412611426 | ARX | c.1243G>C (p.Asp415His) | |
X | g.25007316C>T | CA412611427 | ARX | c.1243G>A (p.Asp415Asn) | |
X | g.25007317C>A | CA515947258 | ARX | c.1242G>T (p.Leu414=) | gnomAD v4 |
X | g.25007317C>G | CA515947260 | ARX | c.1242G>C (p.Leu414=) | |
X | g.25007317C>T | CA515947259 | ARX | c.1242G>A (p.Leu414=) | gnomAD v4 |
X | g.25007318A>C | CA412611428 | ARX | c.1241T>G (p.Leu414Arg) | |
X | g.25007318A>G | CA412611429 | ARX | c.1241T>C (p.Leu414Pro) | gnomAD v4 |
X | g.25007318A>T | CA412611430 | ARX | c.1241T>A (p.Leu414Gln) | |
X | g.25007319G>A | CA515947262 | ARX | c.1240C>T (p.Leu414=) | |
X | g.25007319G>C | CA412611431 | ARX | c.1240C>G (p.Leu414Val) | ClinVar |
X | g.25007319G>T | CA412611432 | ARX | c.1240C>A (p.Leu414Met) | gnomAD v4 |
X | g.25007320G>A | CA515947265 | ARX | c.1239C>T (p.Tyr413=) | ClinVar gnomAD v4 |
X | g.25007320G>C | CA412611433 | ARX | c.1239C>G (p.Tyr413Ter) | |
X | g.25007320G>T | CA412611434 | ARX | c.1239C>A (p.Tyr413Ter) | gnomAD v4 |
X | g.25007321T>A | CA412611435 | ARX | c.1238A>T (p.Tyr413Phe) | |
X | g.25007321T>C | CA412611436 | ARX | c.1238A>G (p.Tyr413Cys) | dbSNP |
X | g.25007321T>G | CA412611437 | ARX | c.1238A>C (p.Tyr413Ser) | |
X | g.25007321T= | CA2420207082 | ARX | c.1238A= (p.Tyr413=) | |
X | g.25007322A>C | CA412611438 | ARX | c.1237T>G (p.Tyr413Asp) | |
X | g.25007322A>G | CA412611439 | ARX | c.1237T>C (p.Tyr413His) | gnomAD v4 |
X | g.25007322A>T | CA412611440 | ARX | c.1237T>A (p.Tyr413Asn) | |
X | g.25007323G>A | CA515947269 | ARX | c.1236C>T (p.Pro412=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25007323G>C | CA515947270 | ARX | c.1236C>G (p.Pro412=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25007323G= | CA2420207083 | ARX | c.1236C= (p.Pro412=) | |
X | g.25007323G>T | CA515947271 | ARX | c.1236C>A (p.Pro412=) | gnomAD v4 |
X | g.25007324G>A | CA412611441 | ARX | c.1235C>T (p.Pro412Leu) | |
X | g.25007324G>C | CA412611442 | ARX | c.1235C>G (p.Pro412Arg) | gnomAD v4 |
X | g.25007324G>T | CA412611443 | ARX | c.1235C>A (p.Pro412His) | gnomAD v4 |
X | g.25007325G>A | CA412611444 | ARX | c.1234C>T (p.Pro412Ser) | dbSNP |
X | g.25007325G>C | CA412611445 | ARX | c.1234C>G (p.Pro412Ala) | |
X | g.25007325G>T | CA412611446 | ARX | c.1234C>A (p.Pro412Thr) | gnomAD v4 |
X | g.25007326G>A | CA515947276 | ARX | c.1233C>T (p.Ser411=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25007326G>C | CA412611448 | ARX | c.1233C>G (p.Ser411Arg) | |
X | g.25007326G= | CA2420207084 | ARX | c.1233C= (p.Ser411=) | |
X | g.25007326G>T | CA412611447 | ARX | c.1233C>A (p.Ser411Arg) | gnomAD v4 |
X | g.25007327C>A | CA412611449 | ARX | c.1232G>T (p.Ser411Ile) | gnomAD v4 |
X | g.25007327C>G | CA412611451 | ARX | c.1232G>C (p.Ser411Thr) | |
X | g.25007327C>T | CA412611450 | ARX | c.1232G>A (p.Ser411Asn) | gnomAD v4 |
X | g.25007328T>A | CA412611452 | ARX | c.1231A>T (p.Ser411Cys) | |
X | g.25007328T>C | CA412611453 | ARX | c.1231A>G (p.Ser411Gly) | gnomAD v4 |
X | g.25007328T>G | CA412611454 | ARX | c.1231A>C (p.Ser411Arg) | |
X | g.25007329G>A | CA515947281 | ARX | c.1230C>T (p.Leu410=) | gnomAD v4 |
X | g.25007329G>C | CA515947282 | ARX | c.1230C>G (p.Leu410=) | ClinVar |
X | g.25007329G>T | CA515947283 | ARX | c.1230C>A (p.Leu410=) | gnomAD v4 |
X | g.25007330A>C | CA412611455 | ARX | c.1229T>G (p.Leu410Arg) | |
X | g.25007330A>G | CA412611456 | ARX | c.1229T>C (p.Leu410Pro) | |
X | g.25007330A>T | CA412611457 | ARX | c.1229T>A (p.Leu410His) | |
X | g.25007331G>A | CA412611458 | ARX | c.1228C>T (p.Leu410Phe) |