| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
| X | g.25007093del | CA2740092065 | ARX | c.1448+19del (n.1448+19del) c.61+19del | ClinVar |
| X | g.25007094C>G | CA2579637285 | ARX | c.1448+17G>C (n.1448+17G>C) c.61+17G>C | |
| X | g.25007095del | CA2579637286 | ARX | c.1448+17del (n.1448+17del) c.61+17del | |
| X | g.25007095C>A | CA2693353152 | ARX | c.1448+16G>T (n.1448+16G>T) c.61+16G>T | gnomAD v4 |
| X | g.25007095C= | CA2420206986 | ARX | c.1448+16G= (n.1448+16G=) c.61+16G= | |
| X | g.25007095C>T | CA10373797 | ARX | c.1448+16G>A (n.1448+16G>A) c.61+16G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007096G>A | CA2573158493 | ARX | c.1448+15C>T (n.1448+15C>T) c.61+15C>T | ClinVar dbSNP gnomAD v4 |
| X | g.25007096G>T | CA2693353153 | ARX | c.1448+15C>A (n.1448+15C>A) c.61+15C>A | gnomAD v4 |
| X | g.25007097A= | CA2420206987 | ARX | c.1448+14T= (n.1448+14T=) c.61+14T= | |
| X | g.25007097A>G | CA641364592 | ARX | c.1448+14T>C (n.1448+14T>C) c.61+14T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007098G>T | CA2693353154 | ARX | c.1448+13C>A (n.1448+13C>A) c.61+13C>A | gnomAD v4 |
| X | g.25007099G>A | CA641364593 | ARX | c.1448+12C>T (n.1448+12C>T) c.61+12C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007099G= | CA2420206988 | ARX | c.1448+12C= (n.1448+12C=) c.61+12C= | |
| X | g.25007100C>A | CA10373798 | ARX | c.1448+11G>T (n.1448+11G>T) c.61+11G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007100C= | CA2420206989 | ARX | c.1448+11G= (n.1448+11G=) c.61+11G= | |
| X | g.25007100C>G | CA2740092066 | ARX | c.1448+11G>C (n.1448+11G>C) c.61+11G>C | ClinVar |
| X | g.25007100_25007101insAT | CA2545099482 | ARX | c.1448+10_1448+11insAT (n.1448+10_1448+11insAT) c.61+10_61+11insAT | gnomAD v4 |
| X | g.25007101T>C | CA10373799 | ARX | c.1448+10A>G (n.1448+10A>G) c.61+10A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007101T= | CA2420206990 | ARX | c.1448+10A= (n.1448+10A=) c.61+10A= | |
| X | g.25007102G= | CA2420206991 | ARX | c.1448+9C= (n.1448+9C=) c.61+9C= | |
| X | g.25007102G>T | CA10373800 | ARX | c.1448+9C>A (n.1448+9C>A) c.61+9C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007102_25007104del | CA2499226600 | ARX | c.1448+7_1448+9del (n.1448+7_1448+9del) c.61+7_61+9del | ClinVar dbSNP gnomAD v4 |
| X | g.25007103C= | CA2420206992 | ARX | c.1448+8G= (n.1448+8G=) c.61+8G= | |
| X | g.25007103C>T | CA10373801 | ARX | c.1448+8G>A (n.1448+8G>A) c.61+8G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007104G>T | CA2693353155 | ARX | c.1448+7C>A (n.1448+7C>A) c.61+7C>A | gnomAD v4 |
| X | g.25007105C>A | CA2525601228 | ARX | c.1448+6G>T (n.1448+6G>T) c.61+6G>T | gnomAD v4 |
| X | g.25007105C= | CA2420206993 | ARX | c.1448+6G= (n.1448+6G=) c.61+6G= | |
| X | g.25007105C>T | CA641364594 | ARX | c.1448+6G>A (n.1448+6G>A) c.61+6G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007106G>A | CA1131755564 | ARX | c.1448+5C>T (n.1448+5C>T) c.61+5C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007106G>C | CA2420206995 | ARX | c.1448+5C>G (n.1448+5C>G) c.61+5C>G | dbSNP |
| X | g.25007106G= | CA2420206994 | ARX | c.1448+5C= (n.1448+5C=) c.61+5C= | |
| X | g.25007109A= | CA2420206996 | ARX | c.1448+2T= (n.1448+2T=) c.61+2T= | |
| X | g.25007109A>C | CA412610988 | ARX | c.1448+2T>G (n.1448+2T>G) c.61+2T>G | |
| X | g.25007109A>G | CA412610989 | ARX | c.1448+2T>C (n.1448+2T>C) c.61+2T>C | |
| X | g.25007109A>T | CA412610990 | ARX | c.1448+2T>A (n.1448+2T>A) c.61+2T>A | |
| X | g.25007110C>A | CA412610991 | ARX | c.1448+1G>T (n.1448+1G>T) c.61+1G>T | |
| X | g.25007110C>G | CA412610993 | ARX | c.1448+1G>C (n.1448+1G>C) c.61+1G>C | |
| X | g.25007110C>T | CA412610992 | ARX | c.1448+1G>A (n.1448+1G>A) c.61+1G>A | |
| X | g.25007112_25007115dup | CA915950802 | ARX | c.1446_1448+1dup c.59_61+1dup | ClinVar dbSNP |
| X | g.25007111C>A | CA412610994 | ARX | c.1448G>T (p.Arg483Met) c.61G>T | |
| X | g.25007111C= | CA2420206997 | ARX | c.1448G= (p.Arg483=) c.61G= | |
| X | g.25007111C>G | CA412610995 | ARX | c.1448G>C (p.Arg483Thr) c.61G>C | ClinVar |
| X | g.25007111C>T | CA171145 | ARX | c.1448G>A (p.Arg483Lys) c.61G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007112T>A | CA412610996 | ARX | c.1447A>T (p.Arg483Trp) c.60A>T | |
| X | g.25007112T>C | CA412610997 | ARX | c.1447A>G (p.Arg483Gly) c.60A>G | |
| X | g.25007112T>G | CA515946935 | ARX | c.1447A>C (p.Arg483=) c.60A>C | |
| X | g.25007117_25007123dup | CA2695232853 | ARX | c.1441_1447dup (p.Arg483IlefsTer?) c.54_60dup | |
| X | g.25007113G>A | CA515946936 | ARX | c.1446C>T (p.Gly482=) c.59C>T | gnomAD v4 |
| X | g.25007113G>C | CA515946937 | ARX | c.1446C>G (p.Gly482=) c.59C>G | ClinVar gnomAD v4 |
| X | g.25007113G>T | CA515946938 | ARX | c.1446C>A (p.Gly482=) c.59C>A | gnomAD v4 |
| X | g.25007115_25007136del | CA2695232854 | ARX | c.1425_1446del (p.Phe476GlyfsTer9) c.38_59del | |
| X | g.25007114C>A | CA412610998 | ARX | c.1445G>T (p.Gly482Val) c.58G>T | |
| X | g.25007114C>G | CA412610999 | ARX | c.1445G>C (p.Gly482Ala) c.58G>C | |
| X | g.25007114C>T | CA412611000 | ARX | c.1445G>A (p.Gly482Asp) c.58G>A | gnomAD v4 |
| X | g.25007115C>A | CA412611001 | ARX | c.1444G>T (p.Gly482Cys) c.57G>T | gnomAD v4 |
| X | g.25007115C= | CA2420206998 | ARX | c.1444G= (p.Gly482=) c.57G= | |
| X | g.25007115C>G | CA412611002 | ARX | c.1444G>C (p.Gly482Arg) c.57G>C | dbSNP |
| X | g.25007115C>T | CA412611003 | ARX | c.1444G>A (p.Gly482Ser) c.57G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007116G>A | CA10373802 | ARX | c.1443C>T (p.Phe481=) c.56C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007116G>C | CA412611005 | ARX | c.1443C>G (p.Phe481Leu) c.56C>G | |
| X | g.25007116G= | CA2420206999 | ARX | c.1443C= (p.Phe481=) c.56C= | |
| X | g.25007116G>T | CA412611004 | ARX | c.1443C>A (p.Phe481Leu) c.56C>A | gnomAD v4 |
| X | g.25007116dup | CA2499226601 | ARX | c.1443dup (p.Gly482ArgfsTer?) c.56dup | ClinVar dbSNP |
| X | g.25007117A= | CA2420207000 | ARX | c.1442T= (p.Phe481=) c.55T= | |
| X | g.25007117A>C | CA412611006 | ARX | c.1442T>G (p.Phe481Cys) c.55T>G | |
| X | g.25007117A>G | CA327732611 | ARX | c.1442T>C (p.Phe481Ser) c.55T>C | dbSNP |
| X | g.25007117A>T | CA412611007 | ARX | c.1442T>A (p.Phe481Tyr) c.55T>A | |
| X | g.25007118A>C | CA412611008 | ARX | c.1441T>G (p.Phe481Val) c.54T>G | |
| X | g.25007118A>G | CA412611009 | ARX | c.1441T>C (p.Phe481Leu) c.54T>C | |
| X | g.25007118A>T | CA412611010 | ARX | c.1441T>A (p.Phe481Ile) c.54T>A | |
| X | g.25007119T>A | CA515946939 | ARX | c.1440A>T (p.Ala480=) c.53A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007119T>C | CA515946940 | ARX | c.1440A>G (p.Ala480=) c.53A>G | |
| X | g.25007119T>G | CA515946941 | ARX | c.1440A>C (p.Ala480=) c.53A>C | gnomAD v4 |
| X | g.25007119T= | CA2420207001 | ARX | c.1440A= (p.Ala480=) c.53A= | |
| X | g.25007120G>A | CA412611011 | ARX | c.1439C>T (p.Ala480Val) c.52C>T | |
| X | g.25007120G>C | CA412611012 | ARX | c.1439C>G (p.Ala480Gly) c.52C>G | gnomAD v4 |
| X | g.25007120G>T | CA412611013 | ARX | c.1439C>A (p.Ala480Glu) c.52C>A | |
| X | g.25007121C>A | CA412611014 | ARX | c.1438G>T (p.Ala480Ser) c.51G>T | gnomAD v4 |
| X | g.25007121C= | CA2420207002 | ARX | c.1438G= (p.Ala480=) c.51G= | |
| X | g.25007121C>G | CA412611015 | ARX | c.1438G>C (p.Ala480Pro) c.51G>C | |
| X | g.25007121C>T | CA412611016 | ARX | c.1438G>A (p.Ala480Thr) c.51G>A | dbSNP gnomAD v4 |
| 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 | |
| X | g.25007134A>G | CA515946950 | ARX | c.1425T>C (p.Ala475=) c.38T>C | ClinVar dbSNP |
| X | g.25007134A>T | CA515946951 | ARX | c.1425T>A (p.Ala475=) c.38T>A | |
| X | g.25007135G>A | CA412611046 | ARX | c.1424C>T (p.Ala475Val) c.37C>T | |
| X | g.25007135G>C | CA412611047 | ARX | c.1424C>G (p.Ala475Gly) c.37C>G | |
| X | g.25007135G>T | CA412611048 | ARX | c.1424C>A (p.Ala475Asp) c.37C>A | gnomAD v4 |
| X | g.25007136C>A | CA412611051 | ARX | c.1423G>T (p.Ala475Ser) c.36G>T | |
| X | g.25007136C>G | CA412611049 | ARX | c.1423G>C (p.Ala475Pro) c.36G>C | |
| X | g.25007136C>T | CA412611050 | ARX | c.1423G>A (p.Ala475Thr) c.36G>A | |
| X | g.25007137T>A | CA515946952 | ARX | c.1422A>T (p.Pro474=) c.35A>T | |
| X | g.25007137T>C | CA515946954 | ARX | c.1422A>G (p.Pro474=) c.35A>G | |
| X | g.25007137T>G | CA515946953 | ARX | c.1422A>C (p.Pro474=) c.35A>C | |
| X | g.25007138G>A | CA412611052 | ARX | c.1421C>T (p.Pro474Leu) c.34C>T | gnomAD v4 |
| X | g.25007138G>C | CA412611053 | ARX | c.1421C>G (p.Pro474Arg) c.34C>G | |
| X | g.25007138G>T | CA412611054 | ARX | c.1421C>A (p.Pro474Gln) c.34C>A | gnomAD v4 |
| X | g.25007139G>A | CA412611055 | ARX | c.1420C>T (p.Pro474Ser) c.33C>T | |
| X | g.25007139G>C | CA412611056 | ARX | c.1420C>G (p.Pro474Ala) c.33C>G | |
| X | g.25007139G>T | CA412611057 | ARX | c.1420C>A (p.Pro474Thr) c.33C>A | gnomAD v4 |
| X | g.25007141_25007146del | CA2693353156 | ARX | c.1415_1420del (p.Arg472_His473del) c.28_33del | gnomAD v4 |
| X | g.25007140G>A | CA515946955 | ARX | c.1419C>T (p.His473=) c.32C>T | gnomAD v4 |
| X | g.25007140G>C | CA412611058 | ARX | c.1419C>G (p.His473Gln) c.32C>G | |
| X | g.25007140G>T | CA412611059 | ARX | c.1419C>A (p.His473Gln) c.32C>A | gnomAD v4 |
| X | g.25007142_25007143dup | CA2695232856 | ARX | c.1418_1419dup (p.Pro474ThrfsTer19) c.31_32dup | |
| X | g.25007141T>A | CA412611060 | ARX | c.1418A>T (p.His473Leu) c.31A>T | |
| X | g.25007141T>C | CA412611061 | ARX | c.1418A>G (p.His473Arg) c.31A>G | |
| X | g.25007141T>G | CA412611062 | ARX | c.1418A>C (p.His473Pro) c.31A>C | |
| X | g.25007142G>A | CA412611064 | ARX | c.1417C>T (p.His473Tyr) c.30C>T | |
| X | g.25007142G>C | CA412611065 | ARX | c.1417C>G (p.His473Asp) c.30C>G | |
| X | g.25007142G>T | CA412611063 | ARX | c.1417C>A (p.His473Asn) c.30C>A | gnomAD v4 COSMIC |
| X | g.25007143T>A | CA515946956 | ARX | c.1416A>T (p.Arg472=) c.29A>T | |
| X | g.25007143T>C | CA515946957 | ARX | c.1416A>G (p.Arg472=) c.29A>G | |
| X | g.25007143T>G | CA515946958 | ARX | c.1416A>C (p.Arg472=) c.29A>C | |
| X | g.25007144C>A | CA412611066 | ARX | c.1415G>T (p.Arg472Leu) c.28G>T | gnomAD v4 |
| X | g.25007144C>G | CA412611067 | ARX | c.1415G>C (p.Arg472Pro) c.28G>C | |
| X | g.25007144C>T | CA412611068 | ARX | c.1415G>A (p.Arg472Gln) c.28G>A | gnomAD v4 |
| X | g.25007145_25007154del | CA2499226602 | ARX | c.1406_1415del (p.Ala469AspfsTer20) c.19_28del | ClinVar dbSNP |
| X | g.25007145G>A | CA213233 | ARX | c.1414C>T (p.Arg472Ter) c.27C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007145G>C | CA412611069 | ARX | c.1414C>G (p.Arg472Gly) c.27C>G | |
| X | g.25007145G= | CA2420207010 | ARX | c.1414C= (p.Arg472=) c.27C= | |
| X | g.25007145G>T | CA515946959 | ARX | c.1414C>A (p.Arg472=) c.27C>A | gnomAD v4 |
| X | g.25007146G>A | CA515946960 | ARX | c.1413C>T (p.Phe471=) c.26C>T | gnomAD v3 gnomAD v4 |
| X | g.25007146G>C | CA412611070 | ARX | c.1413C>G (p.Phe471Leu) c.26C>G | |
| X | g.25007146G>T | CA412611071 | ARX | c.1413C>A (p.Phe471Leu) c.26C>A | |
| X | g.25007147A>C | CA412611072 | ARX | c.1412T>G (p.Phe471Cys) c.25T>G | |
| X | g.25007147A>G | CA412611073 | ARX | c.1412T>C (p.Phe471Ser) c.25T>C | |
| X | g.25007147A>T | CA412611074 | ARX | c.1412T>A (p.Phe471Tyr) c.25T>A | |
| X | g.25007148A= | CA2420207011 | ARX | c.1411T= (p.Phe471=) c.24T= | |
| X | g.25007148A>C | CA412611075 | ARX | c.1411T>G (p.Phe471Val) c.24T>G | |
| X | g.25007148A>G | CA412611076 | ARX | c.1411T>C (p.Phe471Leu) c.24T>C | dbSNP gnomAD v2 |
| X | g.25007148A>T | CA412611077 | ARX | c.1411T>A (p.Phe471Ile) c.24T>A | |
| X | g.25007149C>A | CA515946961 | ARX | c.1410G>T (p.Val470=) c.23G>T | gnomAD v4 |
| X | g.25007149C>G | CA515946962 | ARX | c.1410G>C (p.Val470=) c.23G>C | |
| X | g.25007149C>T | CA515946963 | ARX | c.1410G>A (p.Val470=) c.23G>A | |
| X | g.25007150A>C | CA412611080 | ARX | c.1409T>G (p.Val470Gly) c.22T>G | |
| X | g.25007150A>G | CA412611079 | ARX | c.1409T>C (p.Val470Ala) c.22T>C | |
| X | g.25007150A>T | CA412611078 | ARX | c.1409T>A (p.Val470Glu) c.22T>A | |
| X | g.25007151C>A | CA412611081 | ARX | c.1408G>T (p.Val470Leu) c.21G>T | gnomAD v4 |
| X | g.25007151C>G | CA412611082 | ARX | c.1408G>C (p.Val470Leu) c.21G>C | |
| X | g.25007151C>T | CA412611083 | ARX | c.1408G>A (p.Val470Met) c.21G>A | gnomAD v4 |
| X | g.25007152T>A | CA515946964 | ARX | c.1407A>T (p.Ala469=) c.20A>T | |
| X | g.25007152T>C | CA515946965 | ARX | c.1407A>G (p.Ala469=) c.20A>G | |
| X | g.25007152T>G | CA515946966 | ARX | c.1407A>C (p.Ala469=) c.20A>C | |
| X | g.25007153G>A | CA412611084 | ARX | c.1406C>T (p.Ala469Val) c.19C>T | dbSNP gnomAD v4 |
| X | g.25007153G>C | CA412611085 | ARX | c.1406C>G (p.Ala469Gly) c.19C>G | |
| X | g.25007153G>T | CA412611086 | ARX | c.1406C>A (p.Ala469Glu) c.19C>A | gnomAD v4 |
| X | g.25007156_25007178del | CA2580100520 | ARX | c.1384_1406del (p.Leu462SerfsTer?) | ClinVar |
| X | g.25007154C>A | CA412611087 | ARX | c.1405G>T (p.Ala469Ser) c.18G>T | gnomAD v4 |
| X | g.25007154C= | CA2420207012 | ARX | c.1405G= (p.Ala469=) c.18G= | |
| X | g.25007154C>G | CA412611088 | ARX | c.1405G>C (p.Ala469Pro) c.18G>C | |
| X | g.25007154C>T | CA327732612 | ARX | c.1405G>A (p.Ala469Thr) c.18G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.25007159_25007193del | CA2693353157 | ARX | c.1371_1405del (p.Ala458SerfsTer?) | gnomAD v4 |
| X | g.25007155C>A | CA515946967 | ARX | c.1404G>T (p.Ala468=) c.17G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007155C= | CA2420207013 | ARX | c.1404G= (p.Ala468=) c.17G= | |
| X | g.25007155C>G | CA245475 | ARX | c.1404G>C (p.Ala468=) c.17G>C | ClinVar dbSNP |
| X | g.25007155C>T | CA515946968 | ARX | c.1404G>A (p.Ala468=) c.17G>A | ClinVar gnomAD v4 |
| X | g.25007156G>A | CA412611089 | ARX | c.1403C>T (p.Ala468Val) c.16C>T | gnomAD v4 |
| X | g.25007156G>C | CA412611090 | ARX | c.1403C>G (p.Ala468Gly) c.16C>G | |
| X | g.25007156G= | CA2420207014 | ARX | c.1403C= (p.Ala468=) c.16C= | |
| X | g.25007156G>T | CA412611091 | ARX | c.1403C>A (p.Ala468Glu) c.16C>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007157C>A | CA412611093 | ARX | c.1402G>T (p.Ala468Ser) c.15G>T | |
| X | g.25007157C>G | CA412611094 | ARX | c.1402G>C (p.Ala468Pro) c.15G>C | |
| X | g.25007157C>T | CA412611092 | ARX | c.1402G>A (p.Ala468Thr) c.15G>A | gnomAD v4 |
| X | g.25007158T>A | CA515946971 | ARX | c.1401A>T (p.Gly467=) c.14A>T | |
| X | g.25007158T>C | CA515946970 | ARX | c.1401A>G (p.Gly467=) c.14A>G | gnomAD v4 |
| X | g.25007158T>G | CA515946969 | ARX | c.1401A>C (p.Gly467=) c.14A>C | |
| X | g.25007159C>A | CA171143 | ARX | c.1400G>T (p.Gly467Val) c.13G>T | ClinVar dbSNP gnomAD v4 |
| X | g.25007159C= | CA2420207015 | ARX | c.1400G= (p.Gly467=) c.13G= | |
| X | g.25007159C>G | CA412611095 | ARX | c.1400G>C (p.Gly467Ala) c.13G>C | |
| X | g.25007159C>T | CA412611096 | ARX | c.1400G>A (p.Gly467Glu) c.13G>A | gnomAD v4 |
| X | g.25007160C>A | CA412611097 | ARX | c.1399G>T (p.Gly467Ter) c.12G>T | gnomAD v4 |
| X | g.25007160C>G | CA412611098 | ARX | c.1399G>C (p.Gly467Arg) c.12G>C | |
| X | g.25007160C>T | CA412611099 | ARX | c.1399G>A (p.Gly467Arg) c.12G>A | ClinVar |
| X | g.25007161G>A | CA515946974 | ARX | c.1398C>T (p.Leu466=) c.11C>T | gnomAD v4 |
| X | g.25007161G>C | CA515946973 | ARX | c.1398C>G (p.Leu466=) c.11C>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007161G= | CA2420207016 | ARX | c.1398C= (p.Leu466=) c.11C= | |
| X | g.25007161G>T | CA515946972 | ARX | c.1398C>A (p.Leu466=) c.11C>A | gnomAD v4 |
| X | g.25007162A>C | CA412611100 | ARX | c.1397T>G (p.Leu466Arg) c.10T>G | |
| X | g.25007162A>G | CA412611101 | ARX | c.1397T>C (p.Leu466Pro) c.10T>C | |
| X | g.25007162A>T | CA412611102 | ARX | c.1397T>A (p.Leu466His) c.10T>A | gnomAD v4 |
| X | g.25007163G>A | CA412611103 | ARX | c.1396C>T (p.Leu466Phe) c.9C>T | gnomAD v4 |
| X | g.25007163G>C | CA412611104 | ARX | c.1396C>G (p.Leu466Val) c.9C>G | |
| X | g.25007163G>T | CA412611105 | ARX | c.1396C>A (p.Leu466Ile) c.9C>A | |
| X | g.25007164G>A | CA515946975 | ARX | c.1395C>T (p.Phe465=) c.8C>T | |
| X | g.25007164G>C | CA412611106 | ARX | c.1395C>G (p.Phe465Leu) c.8C>G | |
| X | g.25007164G>T | CA412611107 | ARX | c.1395C>A (p.Phe465Leu) c.8C>A | gnomAD v4 |
| X | g.25007165A>C | CA412611110 | ARX | c.1394T>G (p.Phe465Cys) c.7T>G | |
| X | g.25007165A>G | CA412611108 | ARX | c.1394T>C (p.Phe465Ser) c.7T>C | |
| X | g.25007165A>T | CA412611109 | ARX | c.1394T>A (p.Phe465Tyr) c.7T>A | |
| X | g.25007166A>C | CA412611111 | ARX | c.1393T>G (p.Phe465Val) c.6T>G | |
| X | g.25007166A>G | CA412611112 | ARX | c.1393T>C (p.Phe465Leu) c.6T>C | |
| X | g.25007166A>T | CA412611113 | ARX | c.1393T>A (p.Phe465Ile) c.6T>A | |
| X | g.25007167A>C | CA515946976 | ARX | c.1392T>G (p.Thr464=) c.5T>G | |
| X | g.25007167A>G | CA515946977 | ARX | c.1392T>C (p.Thr464=) c.5T>C | gnomAD v4 |
| X | g.25007167A>T | CA515946978 | ARX | c.1392T>A (p.Thr464=) c.5T>A | gnomAD v4 |
| X | g.25007167_25007190delinsAGTGCTCAGGCCCAGCGGCGCCCC | CA2420207017 | ARX | c.1369_1392delinsGGGGCGCCGCTGGGCCTGAGCACT (p.Gly457=) | |
| X | g.25007168G>A | CA412611114 | ARX | c.1391C>T (p.Thr464Ile) c.4C>T | |
| X | g.25007168G>C | CA412611115 | ARX | c.1391C>G (p.Thr464Ser) c.4C>G | |
| X | g.25007168G>T | CA412611116 | ARX | c.1391C>A (p.Thr464Asn) c.4C>A | gnomAD v4 |
| X | g.25007169_25007191del | CA915950804 | ARX | c.1369_1391del (p.Gly457PhefsTer?) | ClinVar dbSNP |
| X | g.25007169T>A | CA412611117 | ARX | c.1390A>T (p.Thr464Ser) c.3A>T | |
| X | g.25007169T>C | CA412611118 | ARX | c.1390A>G (p.Thr464Ala) c.3A>G | gnomAD v4 |
| X | g.25007169T>G | CA412611119 | ARX | c.1390A>C (p.Thr464Pro) c.3A>C | |
| X | g.25007170G>A | CA10373803 | ARX | c.1389C>T (p.Ser463=) c.2C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007170G>C | CA412611120 | ARX | c.1389C>G (p.Ser463Arg) c.2C>G | |
| X | g.25007170G= | CA2420207018 | ARX | c.1389C= (p.Ser463=) c.2C= | |
| X | g.25007170G>T | CA412611121 | ARX | c.1389C>A (p.Ser463Arg) c.2C>A | gnomAD v4 |
| X | g.25007171C>A | CA412611123 | ARX | c.1388G>T (p.Ser463Ile) c.1G>T | |
| X | g.25007171C= | CA2420207019 | ARX | c.1388G= (p.Ser463=) c.1G= | |
| X | g.25007171C>G | CA412611122 | ARX | c.1388G>C (p.Ser463Thr) c.1G>C | dbSNP |
| X | g.25007171C>T | CA10373804 | ARX | c.1388G>A (p.Ser463Asn) c.1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007172T>A | CA412611124 | ARX | c.1387A>T (p.Ser463Cys) | |
| X | g.25007172T>C | CA412611125 | ARX | c.1387A>G (p.Ser463Gly) | |
| X | g.25007172T>G | CA412611126 | ARX | c.1387A>C (p.Ser463Arg) | |
| X | g.25007173C>A | CA515946979 | ARX | c.1386G>T (p.Leu462=) | gnomAD v4 |
| X | g.25007173C= | CA2420207020 | ARX | c.1386G= (p.Leu462=) | |
| X | g.25007173C>G | CA515946980 | ARX | c.1386G>C (p.Leu462=) | dbSNP |
| X | g.25007173C>T | CA515946981 | ARX | c.1386G>A (p.Leu462=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007174A>C | CA412611127 | ARX | c.1385T>G (p.Leu462Arg) | |
| X | g.25007174A>G | CA412611128 | ARX | c.1385T>C (p.Leu462Pro) | gnomAD v4 |
| X | g.25007174A>T | CA412611129 | ARX | c.1385T>A (p.Leu462Gln) | |
| X | g.25007175G>A | CA515946982 | ARX | c.1384C>T (p.Leu462=) | gnomAD v4 |
| X | g.25007175G>C | CA412611130 | ARX | c.1384C>G (p.Leu462Val) | |
| X | g.25007175G>T | CA412611131 | ARX | c.1384C>A (p.Leu462Met) | gnomAD v4 |
| X | g.25007175_25007185delinsGGCCCAGCGGC | CA2420207021 | ARX | c.1374_1384delinsGCCGCTGGGCC (p.Ala458=) | |
| X | g.25007175_25007186del | CA2579637287 | ARX | c.1373_1384del (p.Ala458_Leu462delinsVal) | |
| X | g.25007176G>A | CA10373805 | ARX | c.1383C>T (p.Gly461=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007176G>C | CA515946983 | ARX | c.1383C>G (p.Gly461=) | |
| X | g.25007176G= | CA2420207022 | ARX | c.1383C= (p.Gly461=) | |
| X | g.25007176G>T | CA515946984 | ARX | c.1383C>A (p.Gly461=) | gnomAD v4 |
| X | g.25007180_25007189del | CA913191186 | ARX | c.1374_1383del (p.Pro459Ter) | ClinVar dbSNP |
| X | g.25007177C>A | CA412611132 | ARX | c.1382G>T (p.Gly461Val) | gnomAD v4 |
| X | g.25007177C= | CA2420207023 | ARX | c.1382G= (p.Gly461=) | |
| X | g.25007177C>G | CA412611133 | ARX | c.1382G>C (p.Gly461Ala) | |
| X | g.25007177C>T | CA412611134 | ARX | c.1382G>A (p.Gly461Asp) | dbSNP gnomAD v2 |
| X | g.25007178C>A | CA412611135 | ARX | c.1381G>T (p.Gly461Cys) | gnomAD v4 |
| X | g.25007178C>G | CA412611136 | ARX | c.1381G>C (p.Gly461Arg) | |
| X | g.25007178C>T | CA412611137 | ARX | c.1381G>A (p.Gly461Ser) | gnomAD v3 gnomAD v4 |
| X | g.25007179C>A | CA515946985 | ARX | c.1380G>T (p.Leu460=) | gnomAD v4 |
| X | g.25007179C>G | CA515946986 | ARX | c.1380G>C (p.Leu460=) | |
| X | g.25007179C>T | CA515946987 | ARX | c.1380G>A (p.Leu460=) | gnomAD v4 |
| X | g.25007180A>C | CA412611138 | ARX | c.1379T>G (p.Leu460Arg) | |
| X | g.25007180A>G | CA412611140 | ARX | c.1379T>C (p.Leu460Pro) | |
| X | g.25007180A>T | CA412611139 | ARX | c.1379T>A (p.Leu460Gln) | |
| X | g.25007181G>A | CA515946988 | ARX | c.1378C>T (p.Leu460=) | gnomAD v4 |
| X | g.25007181G>C | CA412611141 | ARX | c.1378C>G (p.Leu460Val) | |
| X | g.25007181G>T | CA412611142 | ARX | c.1378C>A (p.Leu460Met) | gnomAD v4 |
| X | g.25007182C>A | CA10373807 | ARX | c.1377G>T (p.Pro459=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007182C= | CA2420207024 | ARX | c.1377G= (p.Pro459=) | |
| X | g.25007182C>G | CA515946989 | ARX | c.1377G>C (p.Pro459=) | dbSNP |
| X | g.25007182C>T | CA10373806 | ARX | c.1377G>A (p.Pro459=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007183G>A | CA412611143 | ARX | c.1376C>T (p.Pro459Leu) | gnomAD v4 |
| X | g.25007183G>C | CA412611144 | ARX | c.1376C>G (p.Pro459Arg) | |
| X | g.25007183G= | CA2420207025 | ARX | c.1376C= (p.Pro459=) | |
| X | g.25007183G>T | CA412611145 | ARX | c.1376C>A (p.Pro459Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007184G>A | CA412611146 | ARX | c.1375C>T (p.Pro459Ser) | gnomAD v4 |
| X | g.25007184G>C | CA412611147 | ARX | c.1375C>G (p.Pro459Ala) | |
| X | g.25007184G>T | CA412611148 | ARX | c.1375C>A (p.Pro459Thr) | gnomAD v4 |
| X | g.25007185C>A | CA515946990 | ARX | c.1374G>T (p.Ala458=) | gnomAD v4 |
| X | g.25007185C= | CA2420207026 | ARX | c.1374G= (p.Ala458=) | |
| X | g.25007185C>G | CA10373808 | ARX | c.1374G>C (p.Ala458=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007185C>T | CA327732613 | ARX | c.1374G>A (p.Ala458=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007186G>A | CA412611151 | ARX | c.1373C>T (p.Ala458Val) | gnomAD v4 |
| X | g.25007186G>C | CA412611150 | ARX | c.1373C>G (p.Ala458Gly) | |
| X | g.25007186G>T | CA412611149 | ARX | c.1373C>A (p.Ala458Glu) | gnomAD v4 |
| X | g.25007186_25007187delinsGC | CA2420207027 | ARX | c.1372_1373delinsGC (p.Ala458=) | |
| X | g.25007187C>A | CA412611152 | ARX | c.1372G>T (p.Ala458Ser) | gnomAD v4 |
| X | g.25007187C= | CA2420207028 | ARX | c.1372G= (p.Ala458=) | |
| X | g.25007187C>G | CA10373809 | ARX | c.1372G>C (p.Ala458Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007187C>T | CA412611153 | ARX | c.1372G>A (p.Ala458Thr) | ClinVar |
| X | g.25007190del | CA213232 | ARX | c.1372del (p.Ala458ArgfsTer5) | ClinVar dbSNP gnomAD v4 |
| X | g.25007188C>A | CA515946991 | ARX | c.1371G>T (p.Gly457=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007188C= | CA2420207029 | ARX | c.1371G= (p.Gly457=) | |
| X | g.25007188C>G | CA10373810 | ARX | c.1371G>C (p.Gly457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007188C>T | CA515946992 | ARX | c.1371G>A (p.Gly457=) | dbSNP |
| X | g.25007189C>A | CA412611154 | ARX | c.1370G>T (p.Gly457Val) | gnomAD v4 |
| X | g.25007189C>G | CA412611156 | ARX | c.1370G>C (p.Gly457Ala) | gnomAD v4 |
| X | g.25007189C>T | CA412611155 | ARX | c.1370G>A (p.Gly457Glu) | gnomAD v4 |
| X | g.25007189_25007190insAGCGGGGCGC | CA2579637292 | ARX | c.1370_1371insCGCCCCGCTG (p.Leu462AlafsTer?) | |
| X | g.25007190C>A | CA412611157 | ARX | c.1369G>T (p.Gly457Trp) | |
| X | g.25007190C>G | CA412611159 | ARX | c.1369G>C (p.Gly457Arg) | gnomAD v4 |
| X | g.25007190C>T | CA412611158 | ARX | c.1369G>A (p.Gly457Arg) | ClinVar gnomAD v4 |
| X | g.25007191G>A | CA515946993 | ARX | c.1368C>T (p.Ser456=) | gnomAD v4 |
| X | g.25007191G>C | CA412611160 | ARX | c.1368C>G (p.Ser456Arg) | gnomAD v4 |
| X | g.25007191G= | CA2420207030 | ARX | c.1368C= (p.Ser456=) | |
| X | g.25007191G>T | CA412611161 | ARX | c.1368C>A (p.Ser456Arg) | dbSNP gnomAD v4 |
| X | g.25007192C>A | CA412611162 | ARX | c.1367G>T (p.Ser456Ile) | |
| X | g.25007192C>G | CA412611163 | ARX | c.1367G>C (p.Ser456Thr) | |
| X | g.25007192C>T | CA412611164 | ARX | c.1367G>A (p.Ser456Asn) | gnomAD v4 |
| X | g.25007193T>A | CA412611166 | ARX | c.1366A>T (p.Ser456Cys) | |
| X | g.25007193T>C | CA412611165 | ARX | c.1366A>G (p.Ser456Gly) | gnomAD v4 |
| X | g.25007193T>G | CA10373811 | ARX | c.1366A>C (p.Ser456Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007193T= | CA2420207031 | ARX | c.1366A= (p.Ser456=) |