| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25012991_25012999del | CA2695232859 | ARX | c.1001_1009del (p.Thr334_Thr336del) | |
| X | g.25012987_25012993delinsGGTGAAC | CA2420209076 | ARX | c.1002_1008delinsGTTCACC (p.Thr334=) | |
| X | g.25012988G>A | CA412611968 | ARX | c.1007C>T (p.Thr336Ile) | |
| X | g.25012988G>C | CA412611969 | ARX | c.1007C>G (p.Thr336Ser) | |
| X | g.25012988G>T | CA412611970 | ARX | c.1007C>A (p.Thr336Asn) | |
| X | g.25012988_25012993delinsTGGTACA | CA358357 | ARX | c.1002_1007delinsTGTACCA (p.Phe335ValfsTer?) | ClinVar dbSNP |
| X | g.25012989T>A | CA412611973 | ARX | c.1006A>T (p.Thr336Ser) | |
| X | g.25012989T>C | CA412611971 | ARX | c.1006A>G (p.Thr336Ala) | |
| X | g.25012989T>G | CA412611972 | ARX | c.1006A>C (p.Thr336Pro) | |
| X | g.25012990G>A | CA515947104 | ARX | c.1005C>T (p.Phe335=) | ClinVar dbSNP gnomAD v4 |
| X | g.25012990G>C | CA412611974 | ARX | c.1005C>G (p.Phe335Leu) | |
| X | g.25012990G= | CA2420209077 | ARX | c.1005C= (p.Phe335=) | |
| X | g.25012990G>T | CA412611975 | ARX | c.1005C>A (p.Phe335Leu) | |
| X | g.25012991A>C | CA412611976 | ARX | c.1004T>G (p.Phe335Cys) | |
| X | g.25012991A>G | CA412611977 | ARX | c.1004T>C (p.Phe335Ser) | |
| X | g.25012991A>T | CA412611978 | ARX | c.1004T>A (p.Phe335Tyr) | |
| X | g.25012992A>C | CA412611981 | ARX | c.1003T>G (p.Phe335Val) | |
| X | g.25012992A>G | CA412611980 | ARX | c.1003T>C (p.Phe335Leu) | gnomAD v4 |
| X | g.25012992A>T | CA412611979 | ARX | c.1003T>A (p.Phe335Ile) | |
| X | g.25012993C>A | CA515947105 | ARX | c.1002G>T (p.Thr334=) | |
| X | g.25012993C= | CA2420209078 | ARX | c.1002G= (p.Thr334=) | |
| X | g.25012993C>G | CA515947106 | ARX | c.1002G>C (p.Thr334=) | |
| X | g.25012993C>T | CA515947107 | ARX | c.1002G>A (p.Thr334=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25012994G>A | CA412611982 | ARX | c.1001C>T (p.Thr334Met) | |
| X | g.25012994G>C | CA412611983 | ARX | c.1001C>G (p.Thr334Arg) | |
| X | g.25012994G>T | CA412611984 | ARX | c.1001C>A (p.Thr334Lys) | |
| X | g.25012995T>A | CA412611985 | ARX | c.1000A>T (p.Thr334Ser) | |
| X | g.25012995T>C | CA412611986 | ARX | c.1000A>G (p.Thr334Ala) | |
| X | g.25012995T>G | CA412611987 | ARX | c.1000A>C (p.Thr334Pro) | |
| X | g.25012996G>A | CA515947108 | ARX | c.999C>T (p.Thr333=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25012996G>C | CA515947110 | ARX | c.999C>G (p.Thr333=) | |
| X | g.25012996G= | CA2420209079 | ARX | c.999C= (p.Thr333=) | |
| X | g.25012996G>T | CA515947109 | ARX | c.999C>A (p.Thr333=) | |
| X | g.25012997G>A | CA412611988 | ARX | c.998C>T (p.Thr333Ile) | |
| X | g.25012997G>C | CA171168 | ARX | c.998C>G (p.Thr333Ser) | ClinVar dbSNP |
| X | g.25012997G= | CA2420209080 | ARX | c.998C= (p.Thr333=) | |
| X | g.25012997G>T | CA121411 | ARX | c.998C>A (p.Thr333Asn) | ClinVar dbSNP gnomAD v4 |
| X | g.25012998T>A | CA412611989 | ARX | c.997A>T (p.Thr333Ser) | |
| X | g.25012998T>C | CA412611990 | ARX | c.997A>G (p.Thr333Ala) | gnomAD v4 |
| X | g.25012998T>G | CA412611991 | ARX | c.997A>C (p.Thr333Pro) | |
| X | g.25012999G>A | CA515947111 | ARX | c.996C>T (p.Arg332=) | |
| X | g.25012999G>C | CA515947112 | ARX | c.996C>G (p.Arg332=) | |
| X | g.25012999G>T | CA515947113 | ARX | c.996C>A (p.Arg332=) | gnomAD v4 |
| X | g.25013000C>A | CA213238 | ARX | c.995G>T (p.Arg332Leu) | ClinVar dbSNP |
| X | g.25013000C= | CA2420209081 | ARX | c.995G= (p.Arg332=) | |
| X | g.25013000C>G | CA412611992 | ARX | c.995G>C (p.Arg332Pro) | |
| X | g.25013000C>T | CA213168 | ARX | c.995G>A (p.Arg332His) | ClinVar dbSNP gnomAD v4 |
| X | g.25013001G>A | CA412611993 | ARX | c.994C>T (p.Arg332Cys) | ClinVar dbSNP |
| X | g.25013001G>C | CA412611994 | ARX | c.994C>G (p.Arg332Gly) | ClinVar dbSNP |