| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.71451237C>A | CA357418347 | SLC4A4 | c.1354C>A (p.Pro452Thr) c.1258C>A (p.Pro420Thr) c.1126C>A (p.Pro376Thr) n.1187C>A c.700C>A (p.Pro234Thr) c.1033C>A (p.Pro345Thr) c.742C>A (p.Pro248Thr) c.1351C>A (p.Pro451Thr) c.1273C>A (p.Pro425Thr) | dbSNP |
| 4 | g.71451237C= | CA1467213284 | SLC4A4 | c.1354C= (p.Pro452=) c.1258C= (p.Pro420=) c.1126C= (p.Pro376=) n.1187C= c.700C= (p.Pro234=) c.1033C= (p.Pro345=) c.742C= (p.Pro248=) c.1351C= (p.Pro451=) c.1273C= (p.Pro425=) | dbSNP |
| 4 | g.71451237C>G | CA357418346 | SLC4A4 | c.1354C>G (p.Pro452Ala) c.1258C>G (p.Pro420Ala) c.1126C>G (p.Pro376Ala) n.1187C>G c.700C>G (p.Pro234Ala) c.1033C>G (p.Pro345Ala) c.742C>G (p.Pro248Ala) c.1351C>G (p.Pro451Ala) c.1273C>G (p.Pro425Ala) | |
| 4 | g.71451237C>T | CA2954776 | SLC4A4 | c.1354C>T (p.Pro452Ser) c.1258C>T (p.Pro420Ser) c.1126C>T (p.Pro376Ser) n.1187C>T c.700C>T (p.Pro234Ser) c.1033C>T (p.Pro345Ser) c.742C>T (p.Pro248Ser) c.1351C>T (p.Pro451Ser) c.1273C>T (p.Pro425Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.71451238C>A | CA357418348 | SLC4A4 | c.1355C>A (p.Pro452His) c.1259C>A (p.Pro420His) c.1127C>A (p.Pro376His) n.1188C>A c.701C>A (p.Pro234His) c.1034C>A (p.Pro345His) c.743C>A (p.Pro248His) c.1352C>A (p.Pro451His) c.1274C>A (p.Pro425His) | |
| 4 | g.71451238C= | CA3120419450 | SLC4A4 | c.1355C= (p.Pro452=) c.1259C= (p.Pro420=) c.1127C= (p.Pro376=) n.1188C= c.701C= (p.Pro234=) c.1034C= (p.Pro345=) c.743C= (p.Pro248=) c.1352C= (p.Pro451=) c.1274C= (p.Pro425=) | dbSNP |
| 4 | g.71451238C>G | CA357418350 | SLC4A4 | c.1355C>G (p.Pro452Arg) c.1259C>G (p.Pro420Arg) c.1127C>G (p.Pro376Arg) n.1188C>G c.701C>G (p.Pro234Arg) c.1034C>G (p.Pro345Arg) c.743C>G (p.Pro248Arg) c.1352C>G (p.Pro451Arg) c.1274C>G (p.Pro425Arg) | dbSNP gnomAD v4 |
| 4 | g.71451238C>T | CA357418349 | SLC4A4 | c.1355C>T (p.Pro452Leu) c.1259C>T (p.Pro420Leu) c.1127C>T (p.Pro376Leu) n.1188C>T c.701C>T (p.Pro234Leu) c.1034C>T (p.Pro345Leu) c.743C>T (p.Pro248Leu) c.1352C>T (p.Pro451Leu) c.1274C>T (p.Pro425Leu) | dbSNP gnomAD v4 |
| 4 | g.71451239C>A | CA439875636 | SLC4A4 | c.1356C>A (p.Pro452=) c.1260C>A (p.Pro420=) c.1128C>A (p.Pro376=) n.1189C>A c.702C>A (p.Pro234=) c.1035C>A (p.Pro345=) c.744C>A (p.Pro248=) c.1353C>A (p.Pro451=) c.1275C>A (p.Pro425=) | |
| 4 | g.71451239C= | CA1467213295 | SLC4A4 | c.1356C= (p.Pro452=) c.1260C= (p.Pro420=) c.1128C= (p.Pro376=) n.1189C= c.702C= (p.Pro234=) c.1035C= (p.Pro345=) c.744C= (p.Pro248=) c.1353C= (p.Pro451=) c.1275C= (p.Pro425=) | dbSNP |
| 4 | g.71451239C>G | CA2954777 | SLC4A4 | c.1356C>G (p.Pro452=) c.1260C>G (p.Pro420=) c.1128C>G (p.Pro376=) n.1189C>G c.702C>G (p.Pro234=) c.1035C>G (p.Pro345=) c.744C>G (p.Pro248=) c.1353C>G (p.Pro451=) c.1275C>G (p.Pro425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71451239C>T | CA439875637 | SLC4A4 | c.1356C>T (p.Pro452=) c.1260C>T (p.Pro420=) c.1128C>T (p.Pro376=) n.1189C>T c.702C>T (p.Pro234=) c.1035C>T (p.Pro345=) c.744C>T (p.Pro248=) c.1353C>T (p.Pro451=) c.1275C>T (p.Pro425=) | dbSNP gnomAD v4 |
| 4 | g.71451240C>A | CA2954779 | SLC4A4 | c.1357C>A (p.His453Asn) c.1261C>A (p.His421Asn) c.1129C>A (p.His377Asn) n.1190C>A c.703C>A (p.His235Asn) c.1036C>A (p.His346Asn) c.745C>A (p.His249Asn) c.1354C>A (p.His452Asn) c.1276C>A (p.His426Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71451240C= | CA1467213305 | SLC4A4 | c.1357C= (p.His453=) c.1261C= (p.His421=) c.1129C= (p.His377=) n.1190C= c.703C= (p.His235=) c.1036C= (p.His346=) c.745C= (p.His249=) c.1354C= (p.His452=) c.1276C= (p.His426=) | dbSNP |
| 4 | g.71451240C>G | CA357418351 | SLC4A4 | c.1357C>G (p.His453Asp) c.1261C>G (p.His421Asp) c.1129C>G (p.His377Asp) n.1190C>G c.703C>G (p.His235Asp) c.1036C>G (p.His346Asp) c.745C>G (p.His249Asp) c.1354C>G (p.His452Asp) c.1276C>G (p.His426Asp) | dbSNP |
| 4 | g.71451240C>T | CA2954778 | SLC4A4 | c.1357C>T (p.His453Tyr) c.1261C>T (p.His421Tyr) c.1129C>T (p.His377Tyr) n.1190C>T c.703C>T (p.His235Tyr) c.1036C>T (p.His346Tyr) c.745C>T (p.His249Tyr) c.1354C>T (p.His452Tyr) c.1276C>T (p.His426Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.71451241A= | CA1467213316 | SLC4A4 | c.1358A= (p.His453=) c.1262A= (p.His421=) c.1130A= (p.His377=) n.1191A= c.704A= (p.His235=) c.1037A= (p.His346=) c.746A= (p.His249=) c.1355A= (p.His452=) c.1277A= (p.His426=) | dbSNP |
| 4 | g.71451241A>C | CA357418352 | SLC4A4 | c.1358A>C (p.His453Pro) c.1262A>C (p.His421Pro) c.1130A>C (p.His377Pro) n.1191A>C c.704A>C (p.His235Pro) c.1037A>C (p.His346Pro) c.746A>C (p.His249Pro) c.1355A>C (p.His452Pro) c.1277A>C (p.His426Pro) | |
| 4 | g.71451241A>G | CA2954780 | SLC4A4 | c.1358A>G (p.His453Arg) c.1262A>G (p.His421Arg) c.1130A>G (p.His377Arg) n.1191A>G c.704A>G (p.His235Arg) c.1037A>G (p.His346Arg) c.746A>G (p.His249Arg) c.1355A>G (p.His452Arg) c.1277A>G (p.His426Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.71451241A>T | CA357418353 | SLC4A4 | c.1358A>T (p.His453Leu) c.1262A>T (p.His421Leu) c.1130A>T (p.His377Leu) n.1191A>T c.704A>T (p.His235Leu) c.1037A>T (p.His346Leu) c.746A>T (p.His249Leu) c.1355A>T (p.His452Leu) c.1277A>T (p.His426Leu) | |
| 4 | g.71451242T>A | CA357418354 | SLC4A4 | c.1359T>A (p.His453Gln) c.1263T>A (p.His421Gln) c.1131T>A (p.His377Gln) n.1192T>A c.705T>A (p.His235Gln) c.1038T>A (p.His346Gln) c.747T>A (p.His249Gln) c.1356T>A (p.His452Gln) c.1278T>A (p.His426Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71451242T>C | CA439875638 | SLC4A4 | c.1359T>C (p.His453=) c.1263T>C (p.His421=) c.1131T>C (p.His377=) n.1192T>C c.705T>C (p.His235=) c.1038T>C (p.His346=) c.747T>C (p.His249=) c.1356T>C (p.His452=) c.1278T>C (p.His426=) | |
| 4 | g.71451242T>G | CA357418355 | SLC4A4 | c.1359T>G (p.His453Gln) c.1263T>G (p.His421Gln) c.1131T>G (p.His377Gln) n.1192T>G c.705T>G (p.His235Gln) c.1038T>G (p.His346Gln) c.747T>G (p.His249Gln) c.1356T>G (p.His452Gln) c.1278T>G (p.His426Gln) | |
| 4 | g.71451242T= | CA1467213321 | SLC4A4 | c.1359T= (p.His453=) c.1263T= (p.His421=) c.1131T= (p.His377=) n.1192T= c.705T= (p.His235=) c.1038T= (p.His346=) c.747T= (p.His249=) c.1356T= (p.His452=) c.1278T= (p.His426=) | dbSNP |
| 4 | g.71451243G>A | CA357418356 | SLC4A4 | c.1360G>A (p.Asp454Asn) c.1264G>A (p.Asp422Asn) c.1132G>A (p.Asp378Asn) n.1193G>A c.706G>A (p.Asp236Asn) c.1039G>A (p.Asp347Asn) c.748G>A (p.Asp250Asn) c.1357G>A (p.Asp453Asn) c.1279G>A (p.Asp427Asn) | COSMIC COSMIC |
| 4 | g.71451243G>C | CA357418357 | SLC4A4 | c.1360G>C (p.Asp454His) c.1264G>C (p.Asp422His) c.1132G>C (p.Asp378His) n.1193G>C c.706G>C (p.Asp236His) c.1039G>C (p.Asp347His) c.748G>C (p.Asp250His) c.1357G>C (p.Asp453His) c.1279G>C (p.Asp427His) | |
| 4 | g.71451243G>T | CA357418358 | SLC4A4 | c.1360G>T (p.Asp454Tyr) c.1264G>T (p.Asp422Tyr) c.1132G>T (p.Asp378Tyr) n.1193G>T c.706G>T (p.Asp236Tyr) c.1039G>T (p.Asp347Tyr) c.748G>T (p.Asp250Tyr) c.1357G>T (p.Asp453Tyr) c.1279G>T (p.Asp427Tyr) | |
| 4 | g.71451244A= | CA3120419482 | SLC4A4 | c.1361A= (p.Asp454=) c.1265A= (p.Asp422=) c.1133A= (p.Asp378=) n.1194A= c.707A= (p.Asp236=) c.1040A= (p.Asp347=) c.749A= (p.Asp250=) c.1358A= (p.Asp453=) c.1280A= (p.Asp427=) | dbSNP |
| 4 | g.71451244A>C | CA357418361 | SLC4A4 | c.1361A>C (p.Asp454Ala) c.1265A>C (p.Asp422Ala) c.1133A>C (p.Asp378Ala) n.1194A>C c.707A>C (p.Asp236Ala) c.1040A>C (p.Asp347Ala) c.749A>C (p.Asp250Ala) c.1358A>C (p.Asp453Ala) c.1280A>C (p.Asp427Ala) | |
| 4 | g.71451244A>G | CA357418359 | SLC4A4 | c.1361A>G (p.Asp454Gly) c.1265A>G (p.Asp422Gly) c.1133A>G (p.Asp378Gly) n.1194A>G c.707A>G (p.Asp236Gly) c.1040A>G (p.Asp347Gly) c.749A>G (p.Asp250Gly) c.1358A>G (p.Asp453Gly) c.1280A>G (p.Asp427Gly) | dbSNP gnomAD v4 |
| 4 | g.71451244A>T | CA357418360 | SLC4A4 | c.1361A>T (p.Asp454Val) c.1265A>T (p.Asp422Val) c.1133A>T (p.Asp378Val) n.1194A>T c.707A>T (p.Asp236Val) c.1040A>T (p.Asp347Val) c.749A>T (p.Asp250Val) c.1358A>T (p.Asp453Val) c.1280A>T (p.Asp427Val) | |
| 4 | g.71451245T>A | CA357418362 | SLC4A4 | c.1362T>A (p.Asp454Glu) c.1266T>A (p.Asp422Glu) c.1134T>A (p.Asp378Glu) n.1195T>A c.708T>A (p.Asp236Glu) c.1041T>A (p.Asp347Glu) c.750T>A (p.Asp250Glu) c.1359T>A (p.Asp453Glu) c.1281T>A (p.Asp427Glu) | |
| 4 | g.71451245T>C | CA439875639 | SLC4A4 | c.1362T>C (p.Asp454=) c.1266T>C (p.Asp422=) c.1134T>C (p.Asp378=) n.1195T>C c.708T>C (p.Asp236=) c.1041T>C (p.Asp347=) c.750T>C (p.Asp250=) c.1359T>C (p.Asp453=) c.1281T>C (p.Asp427=) | |
| 4 | g.71451245T>G | CA357418363 | SLC4A4 | c.1362T>G (p.Asp454Glu) c.1266T>G (p.Asp422Glu) c.1134T>G (p.Asp378Glu) n.1195T>G c.708T>G (p.Asp236Glu) c.1041T>G (p.Asp347Glu) c.750T>G (p.Asp250Glu) c.1359T>G (p.Asp453Glu) c.1281T>G (p.Asp427Glu) | |
| 4 | g.71451246G>A | CA357418364 | SLC4A4 | c.1363G>A (p.Gly455Arg) c.1267G>A (p.Gly423Arg) c.1135G>A (p.Gly379Arg) n.1196G>A c.709G>A (p.Gly237Arg) c.1042G>A (p.Gly348Arg) c.751G>A (p.Gly251Arg) c.1360G>A (p.Gly454Arg) c.1282G>A (p.Gly428Arg) | |
| 4 | g.71451246G>C | CA357418365 | SLC4A4 | c.1363G>C (p.Gly455Arg) c.1267G>C (p.Gly423Arg) c.1135G>C (p.Gly379Arg) n.1196G>C c.709G>C (p.Gly237Arg) c.1042G>C (p.Gly348Arg) c.751G>C (p.Gly251Arg) c.1360G>C (p.Gly454Arg) c.1282G>C (p.Gly428Arg) | |
| 4 | g.71451246G>T | CA357418366 | SLC4A4 | c.1363G>T (p.Gly455Ter) c.1267G>T (p.Gly423Ter) c.1135G>T (p.Gly379Ter) n.1196G>T c.709G>T (p.Gly237Ter) c.1042G>T (p.Gly348Ter) c.751G>T (p.Gly251Ter) c.1360G>T (p.Gly454Ter) c.1282G>T (p.Gly428Ter) | |
| 4 | g.71451247G>A | CA357418367 | SLC4A4 | c.1364G>A (p.Gly455Glu) c.1268G>A (p.Gly423Glu) c.1136G>A (p.Gly379Glu) n.1197G>A c.710G>A (p.Gly237Glu) c.1043G>A (p.Gly348Glu) c.752G>A (p.Gly251Glu) c.1361G>A (p.Gly454Glu) c.1283G>A (p.Gly428Glu) | |
| 4 | g.71451247G>C | CA357418368 | SLC4A4 | c.1364G>C (p.Gly455Ala) c.1268G>C (p.Gly423Ala) c.1136G>C (p.Gly379Ala) n.1197G>C c.710G>C (p.Gly237Ala) c.1043G>C (p.Gly348Ala) c.752G>C (p.Gly251Ala) c.1361G>C (p.Gly454Ala) c.1283G>C (p.Gly428Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71451247G= | CA1467213327 | SLC4A4 | c.1364G= (p.Gly455=) c.1268G= (p.Gly423=) c.1136G= (p.Gly379=) n.1197G= c.710G= (p.Gly237=) c.1043G= (p.Gly348=) c.752G= (p.Gly251=) c.1361G= (p.Gly454=) c.1283G= (p.Gly428=) | dbSNP |
| 4 | g.71451247G>T | CA357418369 | SLC4A4 | c.1364G>T (p.Gly455Val) c.1268G>T (p.Gly423Val) c.1136G>T (p.Gly379Val) n.1197G>T c.710G>T (p.Gly237Val) c.1043G>T (p.Gly348Val) c.752G>T (p.Gly251Val) c.1361G>T (p.Gly454Val) c.1283G>T (p.Gly428Val) | |
| 4 | g.71451248A>C | CA439875642 | SLC4A4 | c.1365A>C (p.Gly455=) c.1269A>C (p.Gly423=) c.1137A>C (p.Gly379=) n.1198A>C c.711A>C (p.Gly237=) c.1044A>C (p.Gly348=) c.753A>C (p.Gly251=) c.1362A>C (p.Gly454=) c.1284A>C (p.Gly428=) | |
| 4 | g.71451248A>G | CA439875641 | SLC4A4 | c.1365A>G (p.Gly455=) c.1269A>G (p.Gly423=) c.1137A>G (p.Gly379=) n.1198A>G c.711A>G (p.Gly237=) c.1044A>G (p.Gly348=) c.753A>G (p.Gly251=) c.1362A>G (p.Gly454=) c.1284A>G (p.Gly428=) | |
| 4 | g.71451248A>T | CA439875640 | SLC4A4 | c.1365A>T (p.Gly455=) c.1269A>T (p.Gly423=) c.1137A>T (p.Gly379=) n.1198A>T c.711A>T (p.Gly237=) c.1044A>T (p.Gly348=) c.753A>T (p.Gly251=) c.1362A>T (p.Gly454=) c.1284A>T (p.Gly428=) | |
| 4 | g.71451249G>A | CA357418370 | SLC4A4 | c.1366G>A (p.Gly456Ser) c.1270G>A (p.Gly424Ser) c.1138G>A (p.Gly380Ser) n.1199G>A c.712G>A (p.Gly238Ser) c.1045G>A (p.Gly349Ser) c.754G>A (p.Gly252Ser) c.1363G>A (p.Gly455Ser) c.1285G>A (p.Gly429Ser) | |
| 4 | g.71451249G>C | CA357418371 | SLC4A4 | c.1366G>C (p.Gly456Arg) c.1270G>C (p.Gly424Arg) c.1138G>C (p.Gly380Arg) n.1199G>C c.712G>C (p.Gly238Arg) c.1045G>C (p.Gly349Arg) c.754G>C (p.Gly252Arg) c.1363G>C (p.Gly455Arg) c.1285G>C (p.Gly429Arg) | |
| 4 | g.71451249G>T | CA357418372 | SLC4A4 | c.1366G>T (p.Gly456Cys) c.1270G>T (p.Gly424Cys) c.1138G>T (p.Gly380Cys) n.1199G>T c.712G>T (p.Gly238Cys) c.1045G>T (p.Gly349Cys) c.754G>T (p.Gly252Cys) c.1363G>T (p.Gly455Cys) c.1285G>T (p.Gly429Cys) | |
| 4 | g.71451250G>A | CA2954781 | SLC4A4 | c.1367G>A (p.Gly456Asp) c.1271G>A (p.Gly424Asp) c.1139G>A (p.Gly380Asp) n.1200G>A c.713G>A (p.Gly238Asp) c.1046G>A (p.Gly349Asp) c.755G>A (p.Gly252Asp) c.1364G>A (p.Gly455Asp) c.1286G>A (p.Gly429Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.71451250G>C | CA357418374 | SLC4A4 | c.1367G>C (p.Gly456Ala) c.1271G>C (p.Gly424Ala) c.1139G>C (p.Gly380Ala) n.1200G>C c.713G>C (p.Gly238Ala) c.1046G>C (p.Gly349Ala) c.755G>C (p.Gly252Ala) c.1364G>C (p.Gly455Ala) c.1286G>C (p.Gly429Ala) | dbSNP gnomAD v4 |
| 4 | g.71451250G= | CA1467213337 | SLC4A4 | c.1367G= (p.Gly456=) c.1271G= (p.Gly424=) c.1139G= (p.Gly380=) n.1200G= c.713G= (p.Gly238=) c.1046G= (p.Gly349=) c.755G= (p.Gly252=) c.1364G= (p.Gly455=) c.1286G= (p.Gly429=) | dbSNP |