| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27985072C>A | CA488958874 | OCA2 | c.1356G>T (p.Val452=) c.1284G>T (p.Val428=) c.1380G>T (p.Val460=) c.1308G>T (p.Val436=) c.1242G>T (p.Val414=) n.2741G>T c.1185G>T (p.Val395=) n.1469G>T | |
| 15 | g.27985072C= | CA2166411000 | OCA2 | c.1356G= (p.Val452=) c.1284G= (p.Val428=) c.1380G= (p.Val460=) c.1308G= (p.Val436=) c.1242G= (p.Val414=) n.2741G= c.1185G= (p.Val395=) n.1469G= | |
| 15 | g.27985072C>G | CA7439075 | OCA2 | c.1356G>C (p.Val452=) c.1284G>C (p.Val428=) c.1380G>C (p.Val460=) c.1308G>C (p.Val436=) c.1242G>C (p.Val414=) n.2741G>C c.1185G>C (p.Val395=) n.1469G>C | dbSNP ExAC |
| 15 | g.27985072C>T | CA488958875 | OCA2 | c.1356G>A (p.Val452=) c.1284G>A (p.Val428=) c.1380G>A (p.Val460=) c.1308G>A (p.Val436=) c.1242G>A (p.Val414=) n.2741G>A c.1185G>A (p.Val395=) n.1469G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27985073A= | CA2166411005 | OCA2 | c.1355T= (p.Val452=) c.1283T= (p.Val428=) c.1379T= (p.Val460=) c.1307T= (p.Val436=) c.1241T= (p.Val414=) n.2740T= c.1184T= (p.Val395=) n.1468T= | |
| 15 | g.27985073A>C | CA391360505 | OCA2 | c.1355T>G (p.Val452Gly) c.1283T>G (p.Val428Gly) c.1379T>G (p.Val460Gly) c.1307T>G (p.Val436Gly) c.1241T>G (p.Val414Gly) n.2740T>G c.1184T>G (p.Val395Gly) n.1468T>G | |
| 15 | g.27985073A>G | CA391360506 | OCA2 | c.1355T>C (p.Val452Ala) c.1283T>C (p.Val428Ala) c.1379T>C (p.Val460Ala) c.1307T>C (p.Val436Ala) c.1241T>C (p.Val414Ala) n.2740T>C c.1184T>C (p.Val395Ala) n.1468T>C | ClinVar dbSNP |
| 15 | g.27985073A>T | CA391360507 | OCA2 | c.1355T>A (p.Val452Glu) c.1283T>A (p.Val428Glu) c.1379T>A (p.Val460Glu) c.1307T>A (p.Val436Glu) c.1241T>A (p.Val414Glu) n.2740T>A c.1184T>A (p.Val395Glu) n.1468T>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27985074C>A | CA391360508 | OCA2 | c.1354G>T (p.Val452Leu) c.1282G>T (p.Val428Leu) c.1378G>T (p.Val460Leu) c.1306G>T (p.Val436Leu) c.1240G>T (p.Val414Leu) n.2739G>T c.1183G>T (p.Val395Leu) n.1467G>T | |
| 15 | g.27985074C= | CA2166411008 | OCA2 | c.1354G= (p.Val452=) c.1282G= (p.Val428=) c.1378G= (p.Val460=) c.1306G= (p.Val436=) c.1240G= (p.Val414=) n.2739G= c.1183G= (p.Val395=) n.1467G= | |
| 15 | g.27985074C>G | CA391360509 | OCA2 | c.1354G>C (p.Val452Leu) c.1282G>C (p.Val428Leu) c.1378G>C (p.Val460Leu) c.1306G>C (p.Val436Leu) c.1240G>C (p.Val414Leu) n.2739G>C c.1183G>C (p.Val395Leu) n.1467G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.27985074C>T | CA391360510 | OCA2 | c.1354G>A (p.Val452Met) c.1282G>A (p.Val428Met) c.1378G>A (p.Val460Met) c.1306G>A (p.Val436Met) c.1240G>A (p.Val414Met) n.2739G>A c.1183G>A (p.Val395Met) n.1467G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27985075A= | CA2166411011 | OCA2 | c.1353T= (p.Pro451=) c.1281T= (p.Pro427=) c.1377T= (p.Pro459=) c.1305T= (p.Pro435=) c.1239T= (p.Pro413=) n.2738T= c.1182T= (p.Pro394=) n.1466T= | |
| 15 | g.27985075A>C | CA488958876 | OCA2 | c.1353T>G (p.Pro451=) c.1281T>G (p.Pro427=) c.1377T>G (p.Pro459=) c.1305T>G (p.Pro435=) c.1239T>G (p.Pro413=) n.2738T>G c.1182T>G (p.Pro394=) n.1466T>G | |
| 15 | g.27985075A>G | CA488958877 | OCA2 | c.1353T>C (p.Pro451=) c.1281T>C (p.Pro427=) c.1377T>C (p.Pro459=) c.1305T>C (p.Pro435=) c.1239T>C (p.Pro413=) n.2738T>C c.1182T>C (p.Pro394=) n.1466T>C | gnomAD v4 |
| 15 | g.27985075A>T | CA7439076 | OCA2 | c.1353T>A (p.Pro451=) c.1281T>A (p.Pro427=) c.1377T>A (p.Pro459=) c.1305T>A (p.Pro435=) c.1239T>A (p.Pro413=) n.2738T>A c.1182T>A (p.Pro394=) n.1466T>A | dbSNP ExAC |
| 15 | g.27985076G>A | CA391360511 | OCA2 | c.1352C>T (p.Pro451Leu) c.1280C>T (p.Pro427Leu) c.1376C>T (p.Pro459Leu) c.1304C>T (p.Pro435Leu) c.1238C>T (p.Pro413Leu) n.2737C>T c.1181C>T (p.Pro394Leu) n.1465C>T | gnomAD v4 |
| 15 | g.27985076G>C | CA391360512 | OCA2 | c.1352C>G (p.Pro451Arg) c.1280C>G (p.Pro427Arg) c.1376C>G (p.Pro459Arg) c.1304C>G (p.Pro435Arg) c.1238C>G (p.Pro413Arg) n.2737C>G c.1181C>G (p.Pro394Arg) n.1465C>G | |
| 15 | g.27985076G= | CA2166411014 | OCA2 | c.1352C= (p.Pro451=) c.1280C= (p.Pro427=) c.1376C= (p.Pro459=) c.1304C= (p.Pro435=) c.1238C= (p.Pro413=) n.2737C= c.1181C= (p.Pro394=) n.1465C= | |
| 15 | g.27985076G>T | CA10645623 | OCA2 | c.1352C>A (p.Pro451His) c.1280C>A (p.Pro427His) c.1376C>A (p.Pro459His) c.1304C>A (p.Pro435His) c.1238C>A (p.Pro413His) n.2737C>A c.1181C>A (p.Pro394His) n.1465C>A | ClinVar dbSNP |
| 15 | g.27985077G>A | CA391360515 | OCA2 | c.1351C>T (p.Pro451Ser) c.1279C>T (p.Pro427Ser) c.1375C>T (p.Pro459Ser) c.1303C>T (p.Pro435Ser) c.1237C>T (p.Pro413Ser) n.2736C>T c.1180C>T (p.Pro394Ser) n.1464C>T | |
| 15 | g.27985077G>C | CA391360514 | OCA2 | c.1351C>G (p.Pro451Ala) c.1279C>G (p.Pro427Ala) c.1375C>G (p.Pro459Ala) c.1303C>G (p.Pro435Ala) c.1237C>G (p.Pro413Ala) n.2736C>G c.1180C>G (p.Pro394Ala) n.1464C>G | gnomAD v4 |
| 15 | g.27985077G>T | CA391360513 | OCA2 | c.1351C>A (p.Pro451Thr) c.1279C>A (p.Pro427Thr) c.1375C>A (p.Pro459Thr) c.1303C>A (p.Pro435Thr) c.1237C>A (p.Pro413Thr) n.2736C>A c.1180C>A (p.Pro394Thr) n.1464C>A | |
| 15 | g.27985078C>A | CA488958878 | OCA2 | c.1350G>T (p.Thr450=) c.1278G>T (p.Thr426=) c.1374G>T (p.Thr458=) c.1302G>T (p.Thr434=) c.1236G>T (p.Thr412=) n.2735G>T c.1179G>T (p.Thr393=) n.1463G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27985078C= | CA2166411022 | OCA2 | c.1350G= (p.Thr450=) c.1278G= (p.Thr426=) c.1374G= (p.Thr458=) c.1302G= (p.Thr434=) c.1236G= (p.Thr412=) n.2735G= c.1179G= (p.Thr393=) n.1463G= | |
| 15 | g.27985078C>G | CA488958879 | OCA2 | c.1350G>C (p.Thr450=) c.1278G>C (p.Thr426=) c.1374G>C (p.Thr458=) c.1302G>C (p.Thr434=) c.1236G>C (p.Thr412=) n.2735G>C c.1179G>C (p.Thr393=) n.1463G>C | gnomAD v4 |
| 15 | g.27985078C>T | CA7439077 | OCA2 | c.1350G>A (p.Thr450=) c.1278G>A (p.Thr426=) c.1374G>A (p.Thr458=) c.1302G>A (p.Thr434=) c.1236G>A (p.Thr412=) n.2735G>A c.1179G>A (p.Thr393=) n.1463G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27985079G>A | CA7439078 | OCA2 | c.1349C>T (p.Thr450Met) c.1277C>T (p.Thr426Met) c.1373C>T (p.Thr458Met) c.1301C>T (p.Thr434Met) c.1235C>T (p.Thr412Met) n.2734C>T c.1178C>T (p.Thr393Met) n.1462C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.27985079G>C | CA391360516 | OCA2 | c.1349C>G (p.Thr450Arg) c.1277C>G (p.Thr426Arg) c.1373C>G (p.Thr458Arg) c.1301C>G (p.Thr434Arg) c.1235C>G (p.Thr412Arg) n.2734C>G c.1178C>G (p.Thr393Arg) n.1462C>G | gnomAD v4 |
| 15 | g.27985079G= | CA2166411028 | OCA2 | c.1349C= (p.Thr450=) c.1277C= (p.Thr426=) c.1373C= (p.Thr458=) c.1301C= (p.Thr434=) c.1235C= (p.Thr412=) n.2734C= c.1178C= (p.Thr393=) n.1462C= | |
| 15 | g.27985079G>T | CA391360517 | OCA2 | c.1349C>A (p.Thr450Lys) c.1277C>A (p.Thr426Lys) c.1373C>A (p.Thr458Lys) c.1301C>A (p.Thr434Lys) c.1235C>A (p.Thr412Lys) n.2734C>A c.1178C>A (p.Thr393Lys) n.1462C>A | COSMIC |
| 15 | g.27985080T>A | CA391360518 | OCA2 | c.1348A>T (p.Thr450Ser) c.1276A>T (p.Thr426Ser) c.1372A>T (p.Thr458Ser) c.1300A>T (p.Thr434Ser) c.1234A>T (p.Thr412Ser) n.2733A>T c.1177A>T (p.Thr393Ser) n.1461A>T | gnomAD v3 gnomAD v4 |
| 15 | g.27985080T>C | CA391360519 | OCA2 | c.1348A>G (p.Thr450Ala) c.1276A>G (p.Thr426Ala) c.1372A>G (p.Thr458Ala) c.1300A>G (p.Thr434Ala) c.1234A>G (p.Thr412Ala) n.2733A>G c.1177A>G (p.Thr393Ala) n.1461A>G | dbSNP gnomAD v2 |
| 15 | g.27985080T>G | CA391360520 | OCA2 | c.1348A>C (p.Thr450Pro) c.1276A>C (p.Thr426Pro) c.1372A>C (p.Thr458Pro) c.1300A>C (p.Thr434Pro) c.1234A>C (p.Thr412Pro) n.2733A>C c.1177A>C (p.Thr393Pro) n.1461A>C | |
| 15 | g.27985080T= | CA2166411032 | OCA2 | c.1348A= (p.Thr450=) c.1276A= (p.Thr426=) c.1372A= (p.Thr458=) c.1300A= (p.Thr434=) c.1234A= (p.Thr412=) n.2733A= c.1177A= (p.Thr393=) n.1461A= | |
| 15 | g.27985081G>A | CA488958880 | OCA2 | c.1347C>T (p.Phe449=) c.1275C>T (p.Phe425=) c.1371C>T (p.Phe457=) c.1299C>T (p.Phe433=) c.1233C>T (p.Phe411=) n.2732C>T c.1176C>T (p.Phe392=) n.1460C>T | dbSNP COSMIC COSMIC |
| 15 | g.27985081G>C | CA391360521 | OCA2 | c.1347C>G (p.Phe449Leu) c.1275C>G (p.Phe425Leu) c.1371C>G (p.Phe457Leu) c.1299C>G (p.Phe433Leu) c.1233C>G (p.Phe411Leu) n.2732C>G c.1176C>G (p.Phe392Leu) n.1460C>G | |
| 15 | g.27985081G>T | CA391360522 | OCA2 | c.1347C>A (p.Phe449Leu) c.1275C>A (p.Phe425Leu) c.1371C>A (p.Phe457Leu) c.1299C>A (p.Phe433Leu) c.1233C>A (p.Phe411Leu) n.2732C>A c.1176C>A (p.Phe392Leu) n.1460C>A | |
| 15 | g.27985082A>C | CA391360523 | OCA2 | c.1346T>G (p.Phe449Cys) c.1274T>G (p.Phe425Cys) c.1370T>G (p.Phe457Cys) c.1298T>G (p.Phe433Cys) c.1232T>G (p.Phe411Cys) n.2731T>G c.1175T>G (p.Phe392Cys) n.1459T>G | |
| 15 | g.27985082A>G | CA391360524 | OCA2 | c.1346T>C (p.Phe449Ser) c.1274T>C (p.Phe425Ser) c.1370T>C (p.Phe457Ser) c.1298T>C (p.Phe433Ser) c.1232T>C (p.Phe411Ser) n.2731T>C c.1175T>C (p.Phe392Ser) n.1459T>C | |
| 15 | g.27985082A>T | CA391360525 | OCA2 | c.1346T>A (p.Phe449Tyr) c.1274T>A (p.Phe425Tyr) c.1370T>A (p.Phe457Tyr) c.1298T>A (p.Phe433Tyr) c.1232T>A (p.Phe411Tyr) n.2731T>A c.1175T>A (p.Phe392Tyr) n.1459T>A | |
| 15 | g.27985083dup | CA2573150576 | OCA2 | c.1346dup (p.Thr450HisfsTer9) c.1274dup (p.Thr426HisfsTer9) c.1370dup (p.Thr458HisfsTer9) c.1298dup (p.Thr434HisfsTer9) c.1232dup (p.Thr412HisfsTer9) n.2731dup c.1175dup (p.Thr393HisfsTer9) n.1459dup | ClinVar dbSNP |
| 15 | g.27985083A= | CA2166411034 | OCA2 | c.1345T= (p.Phe449=) c.1273T= (p.Phe425=) c.1369T= (p.Phe457=) c.1297T= (p.Phe433=) c.1231T= (p.Phe411=) n.2730T= c.1174T= (p.Phe392=) n.1458T= | |
| 15 | g.27985083A>C | CA391360526 | OCA2 | c.1345T>G (p.Phe449Val) c.1273T>G (p.Phe425Val) c.1369T>G (p.Phe457Val) c.1297T>G (p.Phe433Val) c.1231T>G (p.Phe411Val) n.2730T>G c.1174T>G (p.Phe392Val) n.1458T>G | gnomAD v4 |
| 15 | g.27985083A>G | CA391360527 | OCA2 | c.1345T>C (p.Phe449Leu) c.1273T>C (p.Phe425Leu) c.1369T>C (p.Phe457Leu) c.1297T>C (p.Phe433Leu) c.1231T>C (p.Phe411Leu) n.2730T>C c.1174T>C (p.Phe392Leu) n.1458T>C | |
| 15 | g.27985083A>T | CA391360528 | OCA2 | c.1345T>A (p.Phe449Ile) c.1273T>A (p.Phe425Ile) c.1369T>A (p.Phe457Ile) c.1297T>A (p.Phe433Ile) c.1231T>A (p.Phe411Ile) n.2730T>A c.1174T>A (p.Phe392Ile) n.1458T>A | dbSNP |
| 15 | g.27985084G>A | CA267891193 | OCA2 | c.1344C>T (p.Leu448=) c.1272C>T (p.Leu424=) c.1368C>T (p.Leu456=) c.1296C>T (p.Leu432=) c.1230C>T (p.Leu410=) n.2729C>T c.1173C>T (p.Leu391=) n.1457C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27985084G>C | CA488958882 | OCA2 | c.1344C>G (p.Leu448=) c.1272C>G (p.Leu424=) c.1368C>G (p.Leu456=) c.1296C>G (p.Leu432=) c.1230C>G (p.Leu410=) n.2729C>G c.1173C>G (p.Leu391=) n.1457C>G | |
| 15 | g.27985084G= | CA2166411038 | OCA2 | c.1344C= (p.Leu448=) c.1272C= (p.Leu424=) c.1368C= (p.Leu456=) c.1296C= (p.Leu432=) c.1230C= (p.Leu410=) n.2729C= c.1173C= (p.Leu391=) n.1457C= | |
| 15 | g.27985084G>T | CA488958881 | OCA2 | c.1344C>A (p.Leu448=) c.1272C>A (p.Leu424=) c.1368C>A (p.Leu456=) c.1296C>A (p.Leu432=) c.1230C>A (p.Leu410=) n.2729C>A c.1173C>A (p.Leu391=) n.1457C>A |