| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
| X | g.25007130_25007145delinsTGAAAGCTGGGTGTCG | CA2420207008 | ARX | c.1414_1429delinsCGACACCCAGCTTTCA (p.Arg472=) c.27_42delinsCGACACCCAGCTTTCA | |
| X | g.25007134_25007148del | CA915950803 | ARX | c.1414_1428del (p.Arg472_Phe476del) c.27_41del | ClinVar dbSNP |
| 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=) | |
| X | g.25007194G>A | CA515946994 | ARX | c.1365C>T (p.Pro455=) | gnomAD v4 |
| X | g.25007194G>C | CA515946995 | ARX | c.1365C>G (p.Pro455=) | |
| X | g.25007194G>T | CA515946996 | ARX | c.1365C>A (p.Pro455=) | |
| X | g.25007195G>A | CA412611167 | ARX | c.1364C>T (p.Pro455Leu) | gnomAD v4 |
| X | g.25007195G>C | CA412611168 | ARX | c.1364C>G (p.Pro455Arg) | |
| X | g.25007195G>T | CA412611169 | ARX | c.1364C>A (p.Pro455His) | gnomAD v4 |
| X | g.25007196G>A | CA412611170 | ARX | c.1363C>T (p.Pro455Ser) | |
| X | g.25007196G>C | CA412611171 | ARX | c.1363C>G (p.Pro455Ala) | |
| X | g.25007196G>T | CA412611172 | ARX | c.1363C>A (p.Pro455Thr) | |
| X | g.25007197C>A | CA515946997 | ARX | c.1362G>T (p.Pro454=) | ClinVar gnomAD v4 |
| X | g.25007197C= | CA2420207032 | ARX | c.1362G= (p.Pro454=) | |
| X | g.25007197C>G | CA515946999 | ARX | c.1362G>C (p.Pro454=) | |
| X | g.25007197C>T | CA515946998 | ARX | c.1362G>A (p.Pro454=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007198G>A | CA412611173 | ARX | c.1361C>T (p.Pro454Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.25007198G>C | CA412611175 | ARX | c.1361C>G (p.Pro454Arg) | |
| X | g.25007198G>T | CA412611174 | ARX | c.1361C>A (p.Pro454Gln) | gnomAD v4 |
| X | g.25007198_25007203del | CA2693353158 | ARX | c.1356_1361del (p.Ser452_Pro454delinsArg) | gnomAD v4 |
| X | g.25007199G>A | CA412611176 | ARX | c.1360C>T (p.Pro454Ser) | gnomAD v4 |
| X | g.25007199G>C | CA412611177 | ARX | c.1360C>G (p.Pro454Ala) | |
| X | g.25007199G= | CA2420207033 | ARX | c.1360C= (p.Pro454=) | |
| X | g.25007199G>T | CA10373812 | ARX | c.1360C>A (p.Pro454Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007200C>A | CA515947000 | ARX | c.1359G>T (p.Leu453=) | gnomAD v4 |
| X | g.25007200C= | CA2420207034 | ARX | c.1359G= (p.Leu453=) | |
| X | g.25007200C>G | CA10373813 | ARX | c.1359G>C (p.Leu453=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007200C>T | CA515947001 | ARX | c.1359G>A (p.Leu453=) | gnomAD v4 |
| X | g.25007201A>C | CA412611178 | ARX | c.1358T>G (p.Leu453Arg) | ClinVar dbSNP |
| X | g.25007201A>G | CA412611179 | ARX | c.1358T>C (p.Leu453Pro) | gnomAD v4 |
| X | g.25007201A>T | CA412611180 | ARX | c.1358T>A (p.Leu453Gln) | |
| X | g.25007202G>A | CA515947002 | ARX | c.1357C>T (p.Leu453=) | |
| X | g.25007202G>C | CA412611181 | ARX | c.1357C>G (p.Leu453Val) | |
| X | g.25007202G>T | CA412611182 | ARX | c.1357C>A (p.Leu453Met) | |
| X | g.25007203G>A | CA515947003 | ARX | c.1356C>T (p.Ser452=) | gnomAD v4 |
| X | g.25007203G>C | CA412611183 | ARX | c.1356C>G (p.Ser452Arg) | |
| X | g.25007203G>T | CA412611184 | ARX | c.1356C>A (p.Ser452Arg) | gnomAD v4 COSMIC |
| X | g.25007204C>A | CA412611185 | ARX | c.1355G>T (p.Ser452Ile) | gnomAD v4 |
| X | g.25007204C>G | CA412611187 | ARX | c.1355G>C (p.Ser452Thr) | |
| X | g.25007204C>T | CA412611186 | ARX | c.1355G>A (p.Ser452Asn) | gnomAD v4 |
| X | g.25007205_25007233del | CA2693353159 | ARX | c.1327_1355del (p.Ser443ProfsTer?) | gnomAD v4 |
| X | g.25007205T>A | CA412611188 | ARX | c.1354A>T (p.Ser452Cys) | |
| X | g.25007205T>C | CA412611189 | ARX | c.1354A>G (p.Ser452Gly) | ClinVar |
| X | g.25007205T>G | CA412611190 | ARX | c.1354A>C (p.Ser452Arg) | |
| X | g.25007206G>A | CA515947006 | ARX | c.1353C>T (p.Ala451=) | gnomAD v4 |
| X | g.25007206G>C | CA515947004 | ARX | c.1353C>G (p.Ala451=) | |
| X | g.25007206G>T | CA515947005 | ARX | c.1353C>A (p.Ala451=) | gnomAD v4 |
| X | g.25007207_25007210del | CA2693353160 | ARX | c.1350_1353del (p.Ser452CysfsTer10) | gnomAD v4 |
| X | g.25007207G>A | CA412611191 | ARX | c.1352C>T (p.Ala451Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007207G>C | CA412611192 | ARX | c.1352C>G (p.Ala451Gly) | |
| X | g.25007207G= | CA2420207035 | ARX | c.1352C= (p.Ala451=) | |
| X | g.25007207G>T | CA412611193 | ARX | c.1352C>A (p.Ala451Asp) | gnomAD v4 |
| X | g.25007208C>A | CA412611194 | ARX | c.1351G>T (p.Ala451Ser) | gnomAD v4 |
| X | g.25007208C= | CA2420207036 | ARX | c.1351G= (p.Ala451=) | |
| X | g.25007208C>G | CA412611195 | ARX | c.1351G>C (p.Ala451Pro) | gnomAD v4 |
| X | g.25007208C>T | CA412611196 | ARX | c.1351G>A (p.Ala451Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007209C>A | CA515947007 | ARX | c.1350G>T (p.Ser450=) | gnomAD v4 |
| X | g.25007209C>G | CA515947008 | ARX | c.1350G>C (p.Ser450=) | ClinVar |
| X | g.25007209C>T | CA515947009 | ARX | c.1350G>A (p.Ser450=) | gnomAD v4 |
| X | g.25007210G>A | CA412611197 | ARX | c.1349C>T (p.Ser450Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007210G>C | CA412611198 | ARX | c.1349C>G (p.Ser450Trp) | ClinVar |
| X | g.25007210G= | CA2420207037 | ARX | c.1349C= (p.Ser450=) | |
| X | g.25007210G>T | CA412611199 | ARX | c.1349C>A (p.Ser450Ter) | gnomAD v4 |
| X | g.25007211A>C | CA412611202 | ARX | c.1348T>G (p.Ser450Ala) | |
| X | g.25007211A>G | CA412611200 | ARX | c.1348T>C (p.Ser450Pro) | |
| X | g.25007211A>T | CA412611201 | ARX | c.1348T>A (p.Ser450Thr) | |
| X | g.25007212G>A | CA149539 | ARX | c.1347C>T (p.Gly449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.25007212G>C | CA515947010 | ARX | c.1347C>G (p.Gly449=) | |
| X | g.25007212G= | CA2420207038 | ARX | c.1347C= (p.Gly449=) | |
| X | g.25007212G>T | CA515947011 | ARX | c.1347C>A (p.Gly449=) | dbSNP gnomAD v4 |
| X | g.25007213C>A | CA412611203 | ARX | c.1346G>T (p.Gly449Val) | gnomAD v4 |
| X | g.25007213C>G | CA412611204 | ARX | c.1346G>C (p.Gly449Ala) | |
| X | g.25007213C>T | CA412611205 | ARX | c.1346G>A (p.Gly449Asp) | gnomAD v4 |
| X | g.25007214C>A | CA412611206 | ARX | c.1345G>T (p.Gly449Cys) | gnomAD v4 |
| X | g.25007214C>G | CA412611207 | ARX | c.1345G>C (p.Gly449Arg) | |
| X | g.25007214C>T | CA412611208 | ARX | c.1345G>A (p.Gly449Ser) | ClinVar dbSNP |
| X | g.25007215C>A | CA515947012 | ARX | c.1344G>T (p.Pro448=) | gnomAD v4 |
| X | g.25007215C= | CA2420207039 | ARX | c.1344G= (p.Pro448=) | |
| X | g.25007215C>G | CA10373814 | ARX | c.1344G>C (p.Pro448=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007215C>T | CA515947013 | ARX | c.1344G>A (p.Pro448=) | gnomAD v4 |
| X | g.25007216G>A | CA412611209 | ARX | c.1343C>T (p.Pro448Leu) | gnomAD v4 |
| X | g.25007216G>C | CA412611210 | ARX | c.1343C>G (p.Pro448Arg) | |
| X | g.25007216G>T | CA412611211 | ARX | c.1343C>A (p.Pro448Gln) | gnomAD v4 |
| X | g.25007217G>A | CA412611214 | ARX | c.1342C>T (p.Pro448Ser) | ClinVar |
| X | g.25007217G>C | CA412611213 | ARX | c.1342C>G (p.Pro448Ala) | |
| X | g.25007217G>T | CA412611212 | ARX | c.1342C>A (p.Pro448Thr) | gnomAD v4 |
| X | g.25007218A>C | CA515947014 | ARX | c.1341T>G (p.Pro447=) | |
| X | g.25007218A>G | CA515947015 | ARX | c.1341T>C (p.Pro447=) | gnomAD v4 |
| X | g.25007218A>T | CA515947016 | ARX | c.1341T>A (p.Pro447=) | |
| X | g.25007219G>A | CA412611216 | ARX | c.1340C>T (p.Pro447Leu) | |
| X | g.25007219G>C | CA412611215 | ARX | c.1340C>G (p.Pro447Arg) | |
| X | g.25007219G= | CA2420207040 | ARX | c.1340C= (p.Pro447=) | |
| X | g.25007219G>T | CA412611217 | ARX | c.1340C>A (p.Pro447His) | gnomAD v4 |
| X | g.25007220G>A | CA412611218 | ARX | c.1339C>T (p.Pro447Ser) | gnomAD v4 |
| X | g.25007220G>C | CA412611219 | ARX | c.1339C>G (p.Pro447Ala) | |
| X | g.25007220G>T | CA412611220 | ARX | c.1339C>A (p.Pro447Thr) | |
| X | g.25007226_25007278dup | CA1139667342 | ARX | c.1287_1339dup (p.Pro447LeufsTer34) | ClinVar dbSNP |
| X | g.25007221C>A | CA515947017 | ARX | c.1338G>T (p.Pro446=) | ClinVar gnomAD v4 |
| X | g.25007221C= | CA2420207041 | ARX | c.1338G= (p.Pro446=) | |
| X | g.25007221C>G | CA515947018 | ARX | c.1338G>C (p.Pro446=) | |
| X | g.25007221C>T | CA515947019 | ARX | c.1338G>A (p.Pro446=) | |
| X | g.25007222G>A | CA412611221 | ARX | c.1337C>T (p.Pro446Leu) | ClinVar gnomAD v4 |
| X | g.25007222G>C | CA412611222 | ARX | c.1337C>G (p.Pro446Arg) | gnomAD v4 |
| X | g.25007222G>T | CA412611223 | ARX | c.1337C>A (p.Pro446Gln) | |
| X | g.25007223dup | CA213329 | ARX | c.1337dup (p.Pro447AlafsTer?) | ClinVar dbSNP |
| X | g.25007223G>A | CA412611224 | ARX | c.1336C>T (p.Pro446Ser) | |
| X | g.25007223G>C | CA412611225 | ARX | c.1336C>G (p.Pro446Ala) | |
| X | g.25007223G>T | CA412611226 | ARX | c.1336C>A (p.Pro446Thr) | gnomAD v4 |
| X | g.25007224A>C | CA515947020 | ARX | c.1335T>G (p.Pro445=) | |
| X | g.25007224A>G | CA515947021 | ARX | c.1335T>C (p.Pro445=) | gnomAD v4 |
| X | g.25007224A>T | CA515947022 | ARX | c.1335T>A (p.Pro445=) | gnomAD v4 |
| X | g.25007225G>A | CA412611227 | ARX | c.1334C>T (p.Pro445Leu) | |
| X | g.25007225G>C | CA412611228 | ARX | c.1334C>G (p.Pro445Arg) | |
| X | g.25007225G>T | CA412611229 | ARX | c.1334C>A (p.Pro445His) | |
| X | g.25007226G>A | CA412611230 | ARX | c.1333C>T (p.Pro445Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.25007226G>C | CA412611232 | ARX | c.1333C>G (p.Pro445Ala) | |
| X | g.25007226G>T | CA412611231 | ARX | c.1333C>A (p.Pro445Thr) | |
| X | g.25007227T>A | CA515947024 | ARX | c.1332A>T (p.Leu444=) | |
| X | g.25007227T>C | CA515947023 | ARX | c.1332A>G (p.Leu444=) | gnomAD v4 |
| X | g.25007227T>G | CA327732614 | ARX | c.1332A>C (p.Leu444=) | dbSNP |
| X | g.25007227T= | CA2420207042 | ARX | c.1332A= (p.Leu444=) | |
| X | g.25007228A>C | CA412611233 | ARX | c.1331T>G (p.Leu444Arg) | |
| X | g.25007228A>G | CA412611234 | ARX | c.1331T>C (p.Leu444Pro) | gnomAD v4 |
| X | g.25007228A>T | CA412611235 | ARX | c.1331T>A (p.Leu444Gln) | |
| X | g.25007229G>A | CA515947025 | ARX | c.1330C>T (p.Leu444=) | ClinVar |
| X | g.25007229G>C | CA412611236 | ARX | c.1330C>G (p.Leu444Val) | |
| X | g.25007229G>T | CA412611237 | ARX | c.1330C>A (p.Leu444Ile) | gnomAD v4 |
| X | g.25007230G>A | CA515947026 | ARX | c.1329C>T (p.Ser443=) | gnomAD v4 |
| X | g.25007230G>C | CA412611238 | ARX | c.1329C>G (p.Ser443Arg) | |
| X | g.25007230G>T | CA412611239 | ARX | c.1329C>A (p.Ser443Arg) | dbSNP gnomAD v4 |
| X | g.25007231C>A | CA412611240 | ARX | c.1328G>T (p.Ser443Ile) | gnomAD v4 |
| X | g.25007231C>G | CA412611241 | ARX | c.1328G>C (p.Ser443Thr) | |
| X | g.25007231C>T | CA412611242 | ARX | c.1328G>A (p.Ser443Asn) | |
| X | g.25007232T>A | CA412611245 | ARX | c.1327A>T (p.Ser443Cys) | gnomAD v4 |
| X | g.25007232T>C | CA412611244 | ARX | c.1327A>G (p.Ser443Gly) | ClinVar dbSNP gnomAD v4 |
| X | g.25007232T>G | CA412611243 | ARX | c.1327A>C (p.Ser443Arg) | |
| X | g.25007232T= | CA2420207043 | ARX | c.1327A= (p.Ser443=) | |
| X | g.25007233C>A | CA515947027 | ARX | c.1326G>T (p.Pro442=) | gnomAD v4 |
| X | g.25007233C= | CA2420207044 | ARX | c.1326G= (p.Pro442=) | |
| X | g.25007233C>G | CA515947028 | ARX | c.1326G>C (p.Pro442=) | ClinVar dbSNP |
| X | g.25007233C>T | CA10373815 | ARX | c.1326G>A (p.Pro442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007234G>A | CA412611246 | ARX | c.1325C>T (p.Pro442Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.25007234G>C | CA412611247 | ARX | c.1325C>G (p.Pro442Arg) | gnomAD v4 |
| X | g.25007234G= | CA2420207045 | ARX | c.1325C= (p.Pro442=) | |
| X | g.25007234G>T | CA412611248 | ARX | c.1325C>A (p.Pro442Gln) | gnomAD v4 |
| X | g.25007236del | CA2579637312 | ARX | c.1325del (p.Pro442ArgfsTer21) | |
| X | g.25007235G>A | CA412611249 | ARX | c.1324C>T (p.Pro442Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007235G>C | CA412611250 | ARX | c.1324C>G (p.Pro442Ala) | |
| X | g.25007235G= | CA2420207046 | ARX | c.1324C= (p.Pro442=) | |
| X | g.25007235G>T | CA412611251 | ARX | c.1324C>A (p.Pro442Thr) | gnomAD v4 |
| X | g.25007236G>A | CA327732615 | ARX | c.1323C>T (p.Phe441=) | ClinVar dbSNP |
| X | g.25007236G>C | CA412611252 | ARX | c.1323C>G (p.Phe441Leu) | |
| X | g.25007236G= | CA2420207047 | ARX | c.1323C= (p.Phe441=) | |
| X | g.25007236G>T | CA412611253 | ARX | c.1323C>A (p.Phe441Leu) | |
| X | g.25007237A>C | CA412611254 | ARX | c.1322T>G (p.Phe441Cys) | |
| X | g.25007237A>G | CA412611255 | ARX | c.1322T>C (p.Phe441Ser) | gnomAD v4 |
| X | g.25007237A>T | CA412611256 | ARX | c.1322T>A (p.Phe441Tyr) | |
| X | g.25007238A= | CA2420207049 | ARX | c.1321T= (p.Phe441=) | |
| X | g.25007238A>C | CA10604061 | ARX | c.1321T>G (p.Phe441Val) | ClinVar dbSNP |
| X | g.25007238A>G | CA412611258 | ARX | c.1321T>C (p.Phe441Leu) | gnomAD v4 |
| X | g.25007238A>T | CA412611257 | ARX | c.1321T>A (p.Phe441Ile) | |
| X | g.25007238_25007250delinsAGGCGGCGGCGGC | CA2420207048 | ARX | c.1309_1321delinsGCCGCCGCCGCCT (p.Ala437=) | |
| X | g.25007239G>A | CA515947031 | ARX | c.1320C>T (p.Ala440=) | ClinVar gnomAD v4 |
| X | g.25007239G>C | CA515947032 | ARX | c.1320C>G (p.Ala440=) | |
| X | g.25007239G>T | CA515947030 | ARX | c.1320C>A (p.Ala440=) | gnomAD v4 |
| X | g.25007257_25007259dup | CA233282 | ARX | c.1318_1320dup (p.Ala440_Phe441insAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007254_25007259dup | CA515947029 | ARX | c.1315_1320dup (p.Ala440_Phe441insAlaAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007251_25007259dup | CA641364595 | ARX | c.1312_1320dup (p.Ala440_Phe441insAlaAlaAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007248_25007259dup | CA2420207051 | ARX | c.1309_1320dup (p.Ala440_Phe441insAlaAlaAlaAla) | dbSNP |
| X | g.25007257_25007259del | CA10373816 | ARX | c.1318_1320del (p.Ala440del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007254_25007259del | CA2420207050 | ARX | c.1315_1320del (p.Ala439_Ala440del) | ClinVar dbSNP gnomAD v4 |
| X | g.25007251_25007259del | CA327732616 | ARX | c.1312_1320del (p.Ala438_Ala440del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007248_25007259del | CA874143496 | ARX | c.1309_1320del (p.Ala437_Ala440del) | dbSNP gnomAD v3 gnomAD v4 |