| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25010288C>A | CA412611764 | ARX | c.1091G>T (p.Arg364Met) | |
| X | g.25010288C>G | CA412611765 | ARX | c.1091G>C (p.Arg364Thr) | |
| X | g.25010288C>T | CA412611766 | ARX | c.1091G>A (p.Arg364Lys) | |
| X | g.25010289T>A | CA412611767 | ARX | c.1090A>T (p.Arg364Trp) | COSMIC |
| X | g.25010289T>C | CA412611768 | ARX | c.1090A>G (p.Arg364Gly) | |
| X | g.25010289T>G | CA515748712 | ARX | c.1090A>C (p.Arg364=) | |
| X | g.25010290C>A | CA412611769 | ARX | c.1089G>T (p.Met363Ile) | gnomAD v4 |
| X | g.25010290C>G | CA412611770 | ARX | c.1089G>C (p.Met363Ile) | |
| X | g.25010290C>T | CA412611771 | ARX | c.1089G>A (p.Met363Ile) | |
| X | g.25010291A= | CA2420208040 | ARX | c.1088T= (p.Met363=) | |
| X | g.25010291A>C | CA412611772 | ARX | c.1088T>G (p.Met363Arg) | |
| X | g.25010291A>G | CA327732824 | ARX | c.1088T>C (p.Met363Thr) | dbSNP |
| X | g.25010291A>T | CA412611773 | ARX | c.1088T>A (p.Met363Lys) | |
| X | g.25010292T>A | CA412611774 | ARX | c.1087A>T (p.Met363Leu) | |
| X | g.25010292T>C | CA10373839 | ARX | c.1087A>G (p.Met363Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.25010292T>G | CA412611775 | ARX | c.1087A>C (p.Met363Leu) | gnomAD v4 |
| X | g.25010292T= | CA2420208041 | ARX | c.1087A= (p.Met363=) | |
| X | g.25010293G>A | CA515748720 | ARX | c.1086C>T (p.Ala362=) | |
| X | g.25010293G>C | CA515748722 | ARX | c.1086C>G (p.Ala362=) | |
| X | g.25010293G>T | CA515748724 | ARX | c.1086C>A (p.Ala362=) | |
| X | g.25010294G>A | CA412611776 | ARX | c.1085C>T (p.Ala362Val) | |
| X | g.25010294G>C | CA412611777 | ARX | c.1085C>G (p.Ala362Gly) | |
| X | g.25010294G>T | CA412611778 | ARX | c.1085C>A (p.Ala362Asp) | |
| X | g.25010295C>A | CA412611780 | ARX | c.1084G>T (p.Ala362Ser) | |
| X | g.25010295C>G | CA412611781 | ARX | c.1084G>C (p.Ala362Pro) | |
| X | g.25010295C>T | CA412611779 | ARX | c.1084G>A (p.Ala362Thr) | |
| X | g.25010296C>A | CA515748730 | ARX | c.1083G>T (p.Leu361=) | gnomAD v4 |
| X | g.25010296C= | CA2420208042 | ARX | c.1083G= (p.Leu361=) | |
| X | g.25010296C>G | CA515748731 | ARX | c.1083G>C (p.Leu361=) | ClinVar |
| X | g.25010296C>T | CA327732825 | ARX | c.1083G>A (p.Leu361=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.25010297A>C | CA412611783 | ARX | c.1082T>G (p.Leu361Arg) | |
| X | g.25010297A>G | CA412611782 | ARX | c.1082T>C (p.Leu361Pro) | |
| X | g.25010297A>T | CA412611784 | ARX | c.1082T>A (p.Leu361Gln) | |
| X | g.25010298G>A | CA515748737 | ARX | c.1081C>T (p.Leu361=) | |
| X | g.25010298G>C | CA412611785 | ARX | c.1081C>G (p.Leu361Val) | |
| X | g.25010298G>T | CA412611786 | ARX | c.1081C>A (p.Leu361Met) | |
| X | g.25010299T>A | CA412611787 | ARX | c.1080A>T (p.Glu360Asp) | |
| X | g.25010299T>C | CA515748740 | ARX | c.1080A>G (p.Glu360=) | |
| X | g.25010299T>G | CA412611788 | ARX | c.1080A>C (p.Glu360Asp) | |
| X | g.25010300T>A | CA412611789 | ARX | c.1079A>T (p.Glu360Val) | |
| X | g.25010300T>C | CA412611790 | ARX | c.1079A>G (p.Glu360Gly) | |
| X | g.25010300T>G | CA412611791 | ARX | c.1079A>C (p.Glu360Ala) | |
| X | g.25010301C>A | CA412611792 | ARX | c.1078G>T (p.Glu360Ter) | |
| X | g.25010301C= | CA2420208043 | ARX | c.1078G= (p.Glu360=) | |
| X | g.25010301C>G | CA412611793 | ARX | c.1078G>C (p.Glu360Gln) | dbSNP COSMIC |
| X | g.25010301C>T | CA412611794 | ARX | c.1078G>A (p.Glu360Lys) | |
| X | g.25010302C>A | CA412611795 | ARX | c.1077G>T (p.Glu359Asp) | |
| X | g.25010302C= | CA2420208044 | ARX | c.1077G= (p.Glu359=) | |
| X | g.25010302C>G | CA412611796 | ARX | c.1077G>C (p.Glu359Asp) | |
| X | g.25010302C>T | CA515748745 | ARX | c.1077G>A (p.Glu359=) | dbSNP gnomAD v2 gnomAD v4 |