| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del | ClinVar |
| X | g.25004895_25004997dup | CA213339 | ARX | c.1449-82_1469dup n.37-82_57dup | ClinVar dbSNP |
| X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
| X | g.25004895del | CA213235 | ARX | c.1465del (p.Ala489ProfsTer3) n.53del | ClinVar dbSNP |
| X | g.25004895C>A | CA412610951 | ARX | c.1464G>T (p.Met488Ile) n.52G>T | gnomAD v4 |
| X | g.25004895C>G | CA412610950 | ARX | c.1464G>C (p.Met488Ile) n.52G>C | |
| X | g.25004895C>T | CA412610949 | ARX | c.1464G>A (p.Met488Ile) n.52G>A | gnomAD v4 |
| X | g.25004896A= | CA2420205983 | ARX | c.1463T= (p.Met488=) n.51T= | |
| X | g.25004896A>C | CA412610952 | ARX | c.1463T>G (p.Met488Arg) n.51T>G | |
| X | g.25004896A>G | CA10373779 | ARX | c.1463T>C (p.Met488Thr) n.51T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25004896A>T | CA412610953 | ARX | c.1463T>A (p.Met488Lys) n.51T>A | |
| X | g.25004897T>A | CA412610954 | ARX | c.1462A>T (p.Met488Leu) n.50A>T | |
| X | g.25004897T>C | CA10373780 | ARX | c.1462A>G (p.Met488Val) n.50A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004897T>G | CA412610955 | ARX | c.1462A>C (p.Met488Leu) n.50A>C | |
| X | g.25004897T= | CA2420205984 | ARX | c.1462A= (p.Met488=) n.50A= | |
| X | g.25004898T>A | CA515748155 | ARX | c.1461A>T (p.Thr487=) n.49A>T | |
| X | g.25004898T>C | CA515748154 | ARX | c.1461A>G (p.Thr487=) n.49A>G | ClinVar dbSNP |
| X | g.25004898T>G | CA515748153 | ARX | c.1461A>C (p.Thr487=) n.49A>C | |
| X | g.25004898T= | CA2420205985 | ARX | c.1461A= (p.Thr487=) n.49A= | |
| X | g.25004899G>A | CA412610958 | ARX | c.1460C>T (p.Thr487Ile) n.48C>T | gnomAD v4 |
| X | g.25004899G>C | CA412610957 | ARX | c.1460C>G (p.Thr487Arg) n.48C>G | |
| X | g.25004899G>T | CA412610956 | ARX | c.1460C>A (p.Thr487Lys) n.48C>A | |
| X | g.25004900del | CA2695233369 | ARX | c.1459del (p.Thr487GlnfsTer5) n.47del | |
| X | g.25004900T>A | CA412610959 | ARX | c.1459A>T (p.Thr487Ser) n.47A>T | |
| X | g.25004900T>C | CA412610960 | ARX | c.1459A>G (p.Thr487Ala) n.47A>G | gnomAD v4 |
| X | g.25004900T>G | CA412610961 | ARX | c.1459A>C (p.Thr487Pro) n.47A>C | |
| X | g.25004901G>A | CA515748156 | ARX | c.1458C>T (p.Ser486=) n.46C>T | gnomAD v4 |
| X | g.25004901G>C | CA515748157 | ARX | c.1458C>G (p.Ser486=) n.46C>G | |
| X | g.25004901G>T | CA515748158 | ARX | c.1458C>A (p.Ser486=) n.46C>A | gnomAD v4 |
| X | g.25004902G>A | CA412610962 | ARX | c.1457C>T (p.Ser486Phe) n.45C>T | dbSNP gnomAD v4 |
| X | g.25004902G>C | CA412610963 | ARX | c.1457C>G (p.Ser486Cys) n.45C>G | |
| X | g.25004902G>T | CA412610964 | ARX | c.1457C>A (p.Ser486Tyr) n.45C>A | gnomAD v4 |
| X | g.25004902_25004903delinsGA | CA2420205986 | ARX | c.1456_1457delinsTC (p.Ser486=) n.44_45delinsTC | |
| X | g.25004903A>C | CA412610967 | ARX | c.1456T>G (p.Ser486Ala) n.44T>G | |
| X | g.25004903A>G | CA412610965 | ARX | c.1456T>C (p.Ser486Pro) n.44T>C | |
| X | g.25004903A>T | CA412610966 | ARX | c.1456T>A (p.Ser486Thr) n.44T>A | |
| X | g.25004906del | CA641364674 | ARX | c.1456del (p.Ser486ProfsTer6) n.44del | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004903_25004911del | CA2695233370 | ARX | c.1449-1_1456del n.37-1_44del | |
| X | g.25004904A>C | CA412610968 | ARX | c.1455T>G (p.Phe485Leu) n.43T>G | |
| X | g.25004904A>G | CA515748159 | ARX | c.1455T>C (p.Phe485=) n.43T>C | |
| X | g.25004904A>T | CA412610969 | ARX | c.1455T>A (p.Phe485Leu) n.43T>A | |
| X | g.25004905A>C | CA412610970 | ARX | c.1454T>G (p.Phe485Cys) n.42T>G | |
| X | g.25004905A>G | CA412610971 | ARX | c.1454T>C (p.Phe485Ser) n.42T>C | gnomAD v4 |
| X | g.25004905A>T | CA412610972 | ARX | c.1454T>A (p.Phe485Tyr) n.42T>A | |
| X | g.25004906A>C | CA412610973 | ARX | c.1453T>G (p.Phe485Val) n.41T>G | |
| X | g.25004906A>G | CA412610975 | ARX | c.1453T>C (p.Phe485Leu) n.41T>C | gnomAD v4 |
| X | g.25004906A>T | CA412610974 | ARX | c.1453T>A (p.Phe485Ile) n.41T>A | gnomAD v4 |
| X | g.25004911_25004923del | CA2573158584 | ARX | c.1449-8_1453del n.37-8_41del | ClinVar dbSNP |
| X | g.25004907G>A | CA515748160 | ARX | c.1452C>T (p.Leu484=) n.40C>T | gnomAD v4 |
| X | g.25004907G>C | CA515748161 | ARX | c.1452C>G (p.Leu484=) n.40C>G | dbSNP gnomAD v2 gnomAD v4 |