| X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup
| ClinVar |
| X | g.25007156_25007178del | CA2580100520 | ARX | c.1384_1406del (p.Leu462SerfsTer?)
| ClinVar |
| X | g.25007159_25007193del | CA2693353157 | ARX | c.1371_1405del (p.Ala458SerfsTer?)
| gnomAD v4 |
| X | g.25007167_25007190delinsAGTGCTCAGGCCCAGCGGCGCCCC | CA2420207017 | ARX | c.1369_1392delinsGGGGCGCCGCTGGGCCTGAGCACT (p.Gly457=)
| |
| X | g.25007169_25007191del | CA915950804 | ARX | c.1369_1391del (p.Gly457PhefsTer?)
| ClinVar dbSNP |
| 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.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 |
| X | g.25007240G>A | CA412611259 | ARX | c.1319C>T (p.Ala440Val)
| |
| X | g.25007240G>C | CA412611260 | ARX | c.1319C>G (p.Ala440Gly)
| |
| X | g.25007240G>T | CA412611261 | ARX | c.1319C>A (p.Ala440Asp)
| gnomAD v4 |
| X | g.25007241C>A | CA412611262 | ARX | c.1318G>T (p.Ala440Ser)
| gnomAD v4 |
| X | g.25007241C>G | CA412611263 | ARX | c.1318G>C (p.Ala440Pro)
| |
| X | g.25007241C>T | CA412611264 | ARX | c.1318G>A (p.Ala440Thr)
| gnomAD v4 |
| X | g.25007242G>A | CA515947035 | ARX | c.1317C>T (p.Ala439=)
| gnomAD v4 |
| X | g.25007242G>C | CA515947034 | ARX | c.1317C>G (p.Ala439=)
| |
| X | g.25007242G>T | CA515947033 | ARX | c.1317C>A (p.Ala439=)
| gnomAD v4 |
| X | g.25007242_25007260delinsGGCGGCGGCGGCGGCGGCA | CA2420207052 | ARX | c.1299_1317delinsTGCCGCCGCCGCCGCCGCC (p.Ala433=)
| |
| X | g.25007243G>A | CA412611265 | ARX | c.1316C>T (p.Ala439Val)
| gnomAD v4 |
| X | g.25007243G>C | CA412611266 | ARX | c.1316C>G (p.Ala439Gly)
| |
| X | g.25007243G>T | CA412611267 | ARX | c.1316C>A (p.Ala439Asp)
| |
| X | g.25007248_25007265del | CA874143509 | ARX | c.1299_1316del (p.Ala434_Ala439del)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007244C>A | CA412611269 | ARX | c.1315G>T (p.Ala439Ser)
| gnomAD v4 |
| X | g.25007244C= | CA2420207053 | ARX | c.1315G= (p.Ala439=)
| |
| X | g.25007244C>G | CA412611270 | ARX | c.1315G>C (p.Ala439Pro)
| |
| X | g.25007244C>T | CA412611268 | ARX | c.1315G>A (p.Ala439Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007245G>A | CA515947038 | ARX | c.1314C>T (p.Ala438=)
| ClinVar gnomAD v4 |
| X | g.25007245G>C | CA515947037 | ARX | c.1314C>G (p.Ala438=)
| |
| X | g.25007245G>T | CA515947036 | ARX | c.1314C>A (p.Ala438=)
| gnomAD v4 |
| X | g.25007246G>A | CA412611271 | ARX | c.1313C>T (p.Ala438Val)
| gnomAD v4 |
| X | g.25007246G>C | CA412611272 | ARX | c.1313C>G (p.Ala438Gly)
| |
| X | g.25007246G>T | CA412611273 | ARX | c.1313C>A (p.Ala438Asp)
| gnomAD v4 |
| X | g.25007251_25007265dup | CA2740092067 | ARX | c.1299_1313dup (p.Ala438_Ala439insAlaAlaAlaAlaAla)
| ClinVar |
| X | g.25007247C>A | CA412611274 | ARX | c.1312G>T (p.Ala438Ser)
| gnomAD v4 |
| X | g.25007247C>G | CA412611275 | ARX | c.1312G>C (p.Ala438Pro)
| |
| X | g.25007247C>T | CA412611276 | ARX | c.1312G>A (p.Ala438Thr)
| ClinVar gnomAD v4 |
| X | g.25007248G>A | CA10373817 | ARX | c.1311C>T (p.Ala437=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.25007248G>C | CA515947040 | ARX | c.1311C>G (p.Ala437=)
| |
| X | g.25007248G= | CA2420207054 | ARX | c.1311C= (p.Ala437=)
| |
| X | g.25007248G>T | CA515947039 | ARX | c.1311C>A (p.Ala437=)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007248_25007260delinsGGCGGCGGCGGCA | CA2420207055 | ARX | c.1299_1311delinsTGCCGCCGCCGCC (p.Ala433=)
| |
| X | g.25007249G>A | CA412611277 | ARX | c.1310C>T (p.Ala437Val)
| gnomAD v4 |
| X | g.25007249G>C | CA412611278 | ARX | c.1310C>G (p.Ala437Gly)
| |
| X | g.25007249G>T | CA412611279 | ARX | c.1310C>A (p.Ala437Asp)
| gnomAD v4 |
| X | g.25007250_25007251insCGC | CA16621349 | ARX | c.1310_1311insGGC (p.Ala437_Ala438insAla)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007254_25007265dup | CA2693353161 | ARX | c.1299_1310dup (p.Ala437_Ala438insAlaAlaAlaAla)
| gnomAD v4 |
| X | g.25007254_25007265del | CA10373818 | ARX | c.1299_1310del (p.Ala434_Ala437del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007250C>A | CA412611280 | ARX | c.1309G>T (p.Ala437Ser)
| gnomAD v4 |
| X | g.25007250C= | CA2420207056 | ARX | c.1309G= (p.Ala437=)
| |
| X | g.25007250C>G | CA412611281 | ARX | c.1309G>C (p.Ala437Pro)
| |
| X | g.25007250C>T | CA412611282 | ARX | c.1309G>A (p.Ala437Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007251G>A | CA515947043 | ARX | c.1308C>T (p.Ala436=)
| ClinVar gnomAD v4 |
| X | g.25007251G>C | CA515947041 | ARX | c.1308C>G (p.Ala436=)
| |
| X | g.25007251G>T | CA515947042 | ARX | c.1308C>A (p.Ala436=)
| gnomAD v4 |
| X | g.25007252G>A | CA412611285 | ARX | c.1307C>T (p.Ala436Val)
| gnomAD v4 |
| X | g.25007252G>C | CA412611284 | ARX | c.1307C>G (p.Ala436Gly)
| |
| X | g.25007252G>T | CA412611283 | ARX | c.1307C>A (p.Ala436Asp)
| gnomAD v4 |
| X | g.25007257_25007265dup | CA2579637322 | ARX | c.1299_1307dup (p.Ala436_Ala437insAlaAlaAla)
| gnomAD v4 |
| X | g.25007257_25007265del | CA2565335476 | ARX | c.1299_1307del (p.Ala434_Ala436del)
| |
| X | g.25007253C>A | CA412611286 | ARX | c.1306G>T (p.Ala436Ser)
| |
| X | g.25007253C>G | CA412611287 | ARX | c.1306G>C (p.Ala436Pro)
| |
| X | g.25007253C>T | CA412611288 | ARX | c.1306G>A (p.Ala436Thr)
| gnomAD v4 |
| X | g.25007254G>A | CA10373819 | ARX | c.1305C>T (p.Ala435=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007254G>C | CA515947045 | ARX | c.1305C>G (p.Ala435=)
| |
| X | g.25007254G= | CA2420207057 | ARX | c.1305C= (p.Ala435=)
| |
| X | g.25007254G>T | CA515947044 | ARX | c.1305C>A (p.Ala435=)
| gnomAD v4 |
| X | g.25007255del | CA2693353162 | ARX | c.1305del (p.Ala436ProfsTer27)
| gnomAD v4 |
| X | g.25007254_25007260delinsGGCGGCA | CA2420207058 | ARX | c.1299_1305delinsTGCCGCC (p.Ala433=)
| |
| X | g.25007255G>A | CA412611289 | ARX | c.1304C>T (p.Ala435Val)
| |
| X | g.25007255G>C | CA412611290 | ARX | c.1304C>G (p.Ala435Gly)
| |
| X | g.25007255G>T | CA412611291 | ARX | c.1304C>A (p.Ala435Asp)
| gnomAD v4 |
| X | g.25007262_25007267dup | CA641364596 | ARX | c.1299_1304dup (p.Ala435_Ala436insAlaAla)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007262_25007267del | CA16621350 | ARX | c.1299_1304del (p.Ala434_Ala435del)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007256del | CA2693353163 | ARX | c.1303del (p.Ala435ProfsTer28)
| gnomAD v4 |
| X | g.25007256C>A | CA412611292 | ARX | c.1303G>T (p.Ala435Ser)
| |
| X | g.25007256C= | CA2420207059 | ARX | c.1303G= (p.Ala435=)
| |
| X | g.25007256C>G | CA412611293 | ARX | c.1303G>C (p.Ala435Pro)
| |
| X | g.25007256C>T | CA412611294 | ARX | c.1303G>A (p.Ala435Thr)
| gnomAD v4 |
| X | g.25007257G>A | CA515947046 | ARX | c.1302C>T (p.Ala434=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007257G>C | CA10373820 | ARX | c.1302C>G (p.Ala434=)
| dbSNP ExAC gnomAD v4 |
| X | g.25007257G= | CA2420207060 | ARX | c.1302C= (p.Ala434=)
| |
| X | g.25007257G>T | CA515947047 | ARX | c.1302C>A (p.Ala434=)
| |
| X | g.25007258_25007259insAGG | CA874143577 | ARX | c.1302_1303insTCC (p.Ala434_Ala435insSer)
| dbSNP |
| X | g.25007258G>A | CA412611295 | ARX | c.1301C>T (p.Ala434Val)
| gnomAD v4 |
| X | g.25007258G>C | CA412611296 | ARX | c.1301C>G (p.Ala434Gly)
| |
| X | g.25007258G>T | CA412611297 | ARX | c.1301C>A (p.Ala434Asp)
| gnomAD v4 |
| X | g.25007260_25007262dup | CA2579637329 | ARX | c.1299_1301dup (p.Ala434_Ala435insAla)
| |
| X | g.25007260_25007262del | CA2693353164 | ARX | c.1299_1301del (p.Ala434del)
| gnomAD v4 |
| X | g.25007259C>A | CA412611299 | ARX | c.1300G>T (p.Ala434Ser)
| gnomAD v4 |
| X | g.25007259C>G | CA412611300 | ARX | c.1300G>C (p.Ala434Pro)
| |
| X | g.25007259C>T | CA412611298 | ARX | c.1300G>A (p.Ala434Thr)
| gnomAD v4 |
| X | g.25007260A= | CA2420207061 | ARX | c.1299T= (p.Ala433=)
| |
| X | g.25007260A>C | CA515947048 | ARX | c.1299T>G (p.Ala433=)
| |
| X | g.25007260A>G | CA327732617 | ARX | c.1299T>C (p.Ala433=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007260A>T | CA515947049 | ARX | c.1299T>A (p.Ala433=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007261G>A | CA412611301 | ARX | c.1298C>T (p.Ala433Val)
| ClinVar dbSNP |
| X | g.25007261G>C | CA412611302 | ARX | c.1298C>G (p.Ala433Gly)
| |
| X | g.25007261G>T | CA412611303 | ARX | c.1298C>A (p.Ala433Asp)
| gnomAD v4 |
| X | g.25007262C>A | CA412611304 | ARX | c.1297G>T (p.Ala433Ser)
| gnomAD v4 |
| X | g.25007262C>G | CA412611305 | ARX | c.1297G>C (p.Ala433Pro)
| |
| X | g.25007262C>T | CA412611306 | ARX | c.1297G>A (p.Ala433Thr)
| gnomAD v4 |
| X | g.25007263G>A | CA327732618 | ARX | c.1296C>T (p.Ala432=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007263G>C | CA515947050 | ARX | c.1296C>G (p.Ala432=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007263G= | CA2420207062 | ARX | c.1296C= (p.Ala432=)
| |
| X | g.25007263G>T | CA515947051 | ARX | c.1296C>A (p.Ala432=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007264G>A | CA412611307 | ARX | c.1295C>T (p.Ala432Val)
| gnomAD v4 |
| X | g.25007264G>C | CA412611308 | ARX | c.1295C>G (p.Ala432Gly)
| |
| X | g.25007264G>T | CA412611309 | ARX | c.1295C>A (p.Ala432Asp)
| gnomAD v4 |
| X | g.25007265C>A | CA412611310 | ARX | c.1294G>T (p.Ala432Ser)
| gnomAD v4 |
| X | g.25007265C>G | CA412611311 | ARX | c.1294G>C (p.Ala432Pro)
| |
| X | g.25007265C>T | CA412611312 | ARX | c.1294G>A (p.Ala432Thr)
| gnomAD v4 |
| X | g.25007266A>C | CA515947052 | ARX | c.1293T>G (p.Thr431=)
| |
| X | g.25007266A>G | CA515947053 | ARX | c.1293T>C (p.Thr431=)
| gnomAD v4 |
| X | g.25007266A>T | CA515947054 | ARX | c.1293T>A (p.Thr431=)
| |
| X | g.25007267G>A | CA412611315 | ARX | c.1292C>T (p.Thr431Ile)
| |
| X | g.25007267G>C | CA412611314 | ARX | c.1292C>G (p.Thr431Ser)
| gnomAD v4 |
| X | g.25007267G>T | CA412611313 | ARX | c.1292C>A (p.Thr431Asn)
| gnomAD v4 |
| X | g.25007268T>A | CA412611316 | ARX | c.1291A>T (p.Thr431Ser)
| |
| X | g.25007268T>C | CA412611317 | ARX | c.1291A>G (p.Thr431Ala)
| |
| X | g.25007268T>G | CA412611318 | ARX | c.1291A>C (p.Thr431Pro)
| |
| X | g.25007269C>A | CA412611319 | ARX | c.1290G>T (p.Trp430Cys)
| gnomAD v4 |
| X | g.25007269C>G | CA412611320 | ARX | c.1290G>C (p.Trp430Cys)
| |
| X | g.25007269C>T | CA412611321 | ARX | c.1290G>A (p.Trp430Ter)
| gnomAD v4 |
| X | g.25007270C>A | CA412611322 | ARX | c.1289G>T (p.Trp430Leu)
| gnomAD v4 |
| X | g.25007270C>G | CA412611323 | ARX | c.1289G>C (p.Trp430Ser)
| |
| X | g.25007270C>T | CA412611324 | ARX | c.1289G>A (p.Trp430Ter)
| gnomAD v4 |
| X | g.25007271A>C | CA412611325 | ARX | c.1288T>G (p.Trp430Gly)
| |
| X | g.25007271A>G | CA412611326 | ARX | c.1288T>C (p.Trp430Arg)
| |
| X | g.25007271A>T | CA412611327 | ARX | c.1288T>A (p.Trp430Arg)
| gnomAD v4 |
| X | g.25007272A= | CA2420207063 | ARX | c.1287T= (p.Ala429=)
| |
| X | g.25007272A>C | CA515947055 | ARX | c.1287T>G (p.Ala429=)
| dbSNP gnomAD v4 |
| X | g.25007272A>G | CA515947057 | ARX | c.1287T>C (p.Ala429=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007272A>T | CA515947056 | ARX | c.1287T>A (p.Ala429=)
| |
| X | g.25007273G>A | CA412611328 | ARX | c.1286C>T (p.Ala429Val)
| |
| X | g.25007273G>C | CA412611330 | ARX | c.1286C>G (p.Ala429Gly)
| |
| X | g.25007273G>T | CA412611329 | ARX | c.1286C>A (p.Ala429Asp)
| gnomAD v4 |
| X | g.25007274C>A | CA412611331 | ARX | c.1285G>T (p.Ala429Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007274C= | CA2420207064 | ARX | c.1285G= (p.Ala429=)
| |
| X | g.25007274C>G | CA412611333 | ARX | c.1285G>C (p.Ala429Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007274C>T | CA412611332 | ARX | c.1285G>A (p.Ala429Thr)
| gnomAD v4 |
| X | g.25007275G>A | CA515947058 | ARX | c.1284C>T (p.Ser428=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.25007275G>C | CA515947059 | ARX | c.1284C>G (p.Ser428=)
| |
| X | g.25007275G= | CA2420207065 | ARX | c.1284C= (p.Ser428=)
| |
| X | g.25007275G>T | CA515947060 | ARX | c.1284C>A (p.Ser428=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007276_25007283dup | CA2739290435 | ARX | c.1277_1284dup (p.Ala429SerfsTer?)
| |
| X | g.25007276G>A | CA412611334 | ARX | c.1283C>T (p.Ser428Phe)
| |
| X | g.25007276G>C | CA412611335 | ARX | c.1283C>G (p.Ser428Cys)
| |
| X | g.25007276G>T | CA412611336 | ARX | c.1283C>A (p.Ser428Tyr)
| gnomAD v4 |
| X | g.25007277A>C | CA412611337 | ARX | c.1282T>G (p.Ser428Ala)
| |
| X | g.25007277A>G | CA412611338 | ARX | c.1282T>C (p.Ser428Pro)
| |
| X | g.25007277A>T | CA412611339 | ARX | c.1282T>A (p.Ser428Thr)
| |
