| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
| X | g.25007117_25007123dup | CA2695232853 | ARX | c.1441_1447dup (p.Arg483IlefsTer?) c.54_60dup | |
| X | g.25007115_25007136del | CA2695232854 | ARX | c.1425_1446del (p.Phe476GlyfsTer9) c.38_59del | |
| X | g.25007122C>A | CA515946942 | ARX | c.1437G>T (p.Pro479=) c.50G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007122C= | CA2420207003 | ARX | c.1437G= (p.Pro479=) c.50G= | |
| X | g.25007122C>G | CA515946943 | ARX | c.1437G>C (p.Pro479=) c.50G>C | |
| X | g.25007122C>T | CA515946944 | ARX | c.1437G>A (p.Pro479=) c.50G>A | gnomAD v4 |
| X | g.25007123G>A | CA412611019 | ARX | c.1436C>T (p.Pro479Leu) c.49C>T | gnomAD v4 |
| X | g.25007123G>C | CA412611017 | ARX | c.1436C>G (p.Pro479Arg) c.49C>G | dbSNP |
| X | g.25007123G= | CA2420207004 | ARX | c.1436C= (p.Pro479=) c.49C= | |
| X | g.25007123G>T | CA412611018 | ARX | c.1436C>A (p.Pro479Gln) c.49C>A | |
| X | g.25007124G>A | CA412611020 | ARX | c.1435C>T (p.Pro479Ser) c.48C>T | |
| X | g.25007124G>C | CA412611021 | ARX | c.1435C>G (p.Pro479Ala) c.48C>G | |
| X | g.25007124G>T | CA412611022 | ARX | c.1435C>A (p.Pro479Thr) c.48C>A | gnomAD v4 |
| X | g.25007125G>A | CA515946945 | ARX | c.1434C>T (p.Ser478=) c.47C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007125G>C | CA412611023 | ARX | c.1434C>G (p.Ser478Arg) c.47C>G | |
| X | g.25007125G= | CA2420207005 | ARX | c.1434C= (p.Ser478=) c.47C= | |
| X | g.25007125G>T | CA412611024 | ARX | c.1434C>A (p.Ser478Arg) c.47C>A | gnomAD v4 COSMIC |
| X | g.25007126C>A | CA412611025 | ARX | c.1433G>T (p.Ser478Ile) c.46G>T | gnomAD v4 |
| X | g.25007126C>G | CA412611026 | ARX | c.1433G>C (p.Ser478Thr) c.46G>C | |
| X | g.25007126C>T | CA412611027 | ARX | c.1433G>A (p.Ser478Asn) c.46G>A | gnomAD v4 |
| X | g.25007127T>A | CA412611028 | ARX | c.1432A>T (p.Ser478Cys) c.45A>T | |
| X | g.25007127T>C | CA412611029 | ARX | c.1432A>G (p.Ser478Gly) c.45A>G | gnomAD v4 |
| X | g.25007127T>G | CA412611030 | ARX | c.1432A>C (p.Ser478Arg) c.45A>C | gnomAD v4 |
| X | g.25007128G>A | CA515946946 | ARX | c.1431C>T (p.Ile477=) c.44C>T | dbSNP |
| X | g.25007128G>C | CA412611031 | ARX | c.1431C>G (p.Ile477Met) c.44C>G | |
| X | g.25007128G= | CA2420207006 | ARX | c.1431C= (p.Ile477=) c.44C= | |
| X | g.25007128G>T | CA515946947 | ARX | c.1431C>A (p.Ile477=) c.44C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.25007129del | CA2580100519 | ARX | c.1430del (p.Ile477ThrfsTer15) c.43del | ClinVar |
| X | g.25007129A= | CA2420207007 | ARX | c.1430T= (p.Ile477=) c.43T= | |
| X | g.25007129A>C | CA412611033 | ARX | c.1430T>G (p.Ile477Ser) c.43T>G | dbSNP |
| X | g.25007129A>G | CA412611034 | ARX | c.1430T>C (p.Ile477Thr) c.43T>C | |
| X | g.25007129A>T | CA412611032 | ARX | c.1430T>A (p.Ile477Asn) c.43T>A | |
| X | g.25007130T>A | CA412611036 | ARX | c.1429A>T (p.Ile477Phe) c.42A>T | |
| X | g.25007130T>C | CA412611035 | ARX | c.1429A>G (p.Ile477Val) c.42A>G | dbSNP |
| X | g.25007130T>G | CA412611037 | ARX | c.1429A>C (p.Ile477Leu) c.42A>C | |
| X | g.25007130T= | CA2420207009 | ARX | c.1429A= (p.Ile477=) c.42A= | |
| X | g.25007130_25007145delinsTGAAAGCTGGGTGTCG | CA2420207008 | ARX | c.1414_1429delinsCGACACCCAGCTTTCA (p.Arg472=) c.27_42delinsCGACACCCAGCTTTCA | |
| X | g.25007131G>A | CA515946948 | ARX | c.1428C>T (p.Phe476=) c.41C>T | ClinVar |
| X | g.25007131G>C | CA412611038 | ARX | c.1428C>G (p.Phe476Leu) c.41C>G | |
| X | g.25007131G>T | CA412611039 | ARX | c.1428C>A (p.Phe476Leu) c.41C>A | |
| X | g.25007131_25007132delinsTT | CA2695232855 | ARX | c.1427_1428delinsAA (p.Phe476Ter) c.40_41delinsAA | |
| X | g.25007134_25007148del | CA915950803 | ARX | c.1414_1428del (p.Arg472_Phe476del) c.27_41del | ClinVar dbSNP |
| X | g.25007132A>C | CA412611040 | ARX | c.1427T>G (p.Phe476Cys) c.40T>G | |
| X | g.25007132A>G | CA412611041 | ARX | c.1427T>C (p.Phe476Ser) c.40T>C | gnomAD v4 |
| X | g.25007132A>T | CA412611042 | ARX | c.1427T>A (p.Phe476Tyr) c.40T>A | |
| X | g.25007133A>C | CA412611043 | ARX | c.1426T>G (p.Phe476Val) c.39T>G | |
| X | g.25007133A>G | CA412611044 | ARX | c.1426T>C (p.Phe476Leu) c.39T>C | |
| X | g.25007133A>T | CA412611045 | ARX | c.1426T>A (p.Phe476Ile) c.39T>A | |
| X | g.25007134A>C | CA515946949 | ARX | c.1425T>G (p.Ala475=) c.38T>G |