Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
12-49578797-T-A | c.1352A>T | p.Y451F | Missense | 4/4 | - | 1 |
12-49578797-T-C | c.1352A>G | p.Y451C | Missense | 4/4 | - | 1 |
12-49578797-T-G | c.1352A>C | p.Y451S | Missense | 4/4 | - | 1 |
12-49578798-A-C | c.1351T>G | p.Y451D | Missense | 4/4 | - | 1 |
12-49578798-A-G | c.1351T>C | p.Y451H | Missense | 4/4 | - | 1 |
12-49578798-A-T | c.1351T>A | p.Y451N | Missense | 4/4 | - | 1 |
12-49578799-TTC-ACA | c.1348_1350delinsTGT | p.E450C | Missense | 4/4 | - | 1 |
12-49578799-T-A | c.1350A>T | p.E450D | Missense | 4/4 | - | 1 |
12-49578799-T-G | c.1350A>C | p.E450D | Missense | 4/4 | - | 1 |
12-49578800-T-A | c.1349A>T | p.E450V | Missense | 4/4 | - | 1 |
12-49578800-T-C | c.1349A>G | p.E450G | Missense | 4/4 | - | 1 |
12-49578800-T-G | c.1349A>C | p.E450A | Missense | 4/4 | - | 1 |
12-49578801-C-G | c.1348G>C | p.E450Q | Missense | 4/4 | - | 1 |
12-49578801-C-T | c.1348G>A | p.E450K | Missense | 4/4 | - | 1 |
12-49578802-C-A | c.1347G>T | p.E449D | Missense | 4/4 | - | 1 |
12-49578802-C-G | c.1347G>C | p.E449D | Missense | 4/4 | - | 1 |
12-49578803-T-A | c.1346A>T | p.E449V | Missense | 4/4 | - | 1 |
12-49578803-T-C | c.1346A>G | p.E449G | Missense | 4/4 | - | 1 |
12-49578803-T-G | c.1346A>C | p.E449A | Missense | 4/4 | - | 1 |
12-49578804-C-G | c.1345G>C | p.E449Q | Missense | 4/4 | - | 1 |
12-49578804-C-T | c.1345G>A | p.E449K | Missense | 4/4 | - | 1 |
12-49578806-C-A | c.1343G>T | p.G448V | Missense | 4/4 | - | 1 |
12-49578806-C-G | c.1343G>C | p.G448A | Missense | 4/4 | - | 1 |
12-49578806-C-T | c.1343G>A | p.G448E | Missense | 4/4 | - | 1 |
12-49578807-C-G | c.1342G>C | p.G448R | Missense | 4/4 | - | 1 |
12-49578807-C-T | c.1342G>A | p.G448R | Missense | 4/4 | - | 1 |
12-49578808-T-A | c.1341A>T | p.E447D | Missense | 4/4 | - | 1 |
12-49578808-T-G | c.1341A>C | p.E447D | Missense | 4/4 | - | 1 |
12-49578809-T-A | c.1340A>T | p.E447V | Missense | 4/4 | - | 1 |
12-49578809-T-C | c.1340A>G | p.E447G | Missense | 4/4 | - | 1 |
12-49578809-T-G | c.1340A>C | p.E447A | Missense | 4/4 | - | 1 |
12-49578807-CT-C | c.1341del | p.G448Efs*36 | Frameshift | 4/4 | - | 1 |
12-49578810-C-G | c.1339G>C | p.E447Q | Missense | 4/4 | - | 1 |
12-49578810-C-T | c.1339G>A | p.E447K | Missense | 4/4 | - | 1 |
12-49578811-T-A | c.1338A>T | p.E446D | Missense | 4/4 | - | 1 |
12-49578811-T-G | c.1338A>C | p.E446D | Missense | 4/4 | - | 1 |
12-49578812-T-A | c.1337A>T | p.E446V | Missense | 4/4 | - | 1 |
12-49578812-T-C | c.1337A>G | p.E446G | Missense | 4/4 | - | 1 |
12-49578812-T-G | c.1337A>C | p.E446A | Missense | 4/4 | - | 1 |
12-49578813-C-G | c.1336G>C | p.E446Q | Missense | 4/4 | - | 1 |
12-49578813-C-T | c.1336G>A | p.E446K | Missense | 4/4 | - | 1 |
12-49578814-C-A | c.1335G>T | p.E445D | Missense | 4/4 | - | 1 |
12-49578814-C-G | c.1335G>C | p.E445D | Missense | 4/4 | - | 1 |
12-49578815-T-A | c.1334A>T | p.E445V | Missense | 4/4 | - | 1 |
12-49578815-T-C | c.1334A>G | p.E445G | Missense | 4/4 | - | 1 |
12-49578815-T-G | c.1334A>C | p.E445A | Missense | 4/4 | - | 1 |
12-49578816-C-G | c.1333G>C | p.E445Q | Missense | 4/4 | - | 1 |
12-49578816-C-T | c.1333G>A | p.E445K | Missense | 4/4 | - | 1 |
12-49578818-C-A | c.1331G>T | p.G444V | Missense | 4/4 | - | 1 |
12-49578818-C-G | c.1331G>C | p.G444A | Missense | 4/4 | - | 1 |
12-49578818-C-T | c.1331G>A | p.G444D | Missense | 4/4 | - | 1 |
12-49578819-C-A | c.1330G>T | p.G444C | Missense | 4/4 | - | 1 |
12-49578819-C-G | c.1330G>C | p.G444R | Missense | 4/4 | - | 1 |
12-49578819-C-T | c.1330G>A | p.G444S | Missense | 4/4 | - | 1 |
12-49578820-C-A | c.1329G>T | p.E443D | Missense | 4/4 | - | 1 |
12-49578820-C-G | c.1329G>C | p.E443D | Missense | 4/4 | - | 1 |
12-49578821-T-A | c.1328A>T | p.E443V | Missense | 4/4 | - | 1 |
12-49578821-T-C | c.1328A>G | p.E443G | Missense | 4/4 | - | 1 |
12-49578821-T-G | c.1328A>C | p.E443A | Missense | 4/4 | - | 1 |
12-49578822-C-G | c.1327G>C | p.E443Q | Missense | 4/4 | - | 1 |
12-49578822-C-T | c.1327G>A | p.E443K | Missense | 4/4 | - | 1 |
12-49578824-C-A | c.1325G>T | p.G442V | Missense | 4/4 | - | 1 |
12-49578824-C-G | c.1325G>C | p.G442A | Missense | 4/4 | - | 1 |
12-49578824-C-T | c.1325G>A | p.G442E | Missense | 4/4 | - | 1 |
12-49578825-C-G | c.1324G>C | p.G442R | Missense | 4/4 | - | 1 |
12-49578825-C-T | c.1324G>A | p.G442R | Missense | 4/4 | - | 1 |
12-49578826-T-A | c.1323A>T | p.E441D | Missense | 4/4 | - | 1 |
12-49578826-T-G | c.1323A>C | p.E441D | Missense | 4/4 | - | 1 |
12-49578827-T-A | c.1322A>T | p.E441V | Missense | 4/4 | - | 1 |
12-49578827-T-C | c.1322A>G | p.E441G | Missense | 4/4 | - | 1 |
12-49578827-T-G | c.1322A>C | p.E441A | Missense | 4/4 | - | 1 |
12-49578828-C-G | c.1321G>C | p.E441Q | Missense | 4/4 | - | 1 |
12-49578828-C-T | c.1321G>A | p.E441K | Missense | 4/4 | - | 1 |
12-49578830-A-C | c.1319T>G | p.V440G | Missense | 4/4 | - | 1 |
12-49578830-A-G | c.1319T>C | p.V440A | Missense | 4/4 | - | 1 |
12-49578830-A-T | c.1319T>A | p.V440D | Missense | 4/4 | - | 1 |
12-49578831-C-A | c.1318G>T | p.V440F | Missense | 4/4 | - | 1 |
12-49578831-C-G | c.1318G>C | p.V440L | Missense | 4/4 | - | 1 |
12-49578831-C-T | c.1318G>A | p.V440I | Missense | 4/4 | - | 1 |
12-49578833-G-A | c.1316C>T | p.S439F | Missense | 4/4 | - | 1 |
12-49578833-G-C | c.1316C>G | p.S439C | Missense | 4/4 | - | 1 |
12-49578833-G-T | c.1316C>A | p.S439Y | Missense | 4/4 | - | 1 |
12-49578834-A-C | c.1315T>G | p.S439A | Missense | 4/4 | - | 1 |
12-49578834-A-G | c.1315T>C | p.S439P | Missense | 4/4 | - | 1 |
12-49578834-A-T | c.1315T>A | p.S439T | Missense | 4/4 | - | 1 |
12-49578835-A-C | c.1314T>G | p.D438E | Missense | 4/4 | - | 1 |
12-49578835-A-T | c.1314T>A | p.D438E | Missense | 4/4 | - | 1 |
12-49578836-T-A | c.1313A>T | p.D438V | Missense | 4/4 | - | 1 |
12-49578836-T-C | c.1313A>G | p.D438G | Missense | 4/4 | - | 1 |
12-49578836-T-G | c.1313A>C | p.D438A | Missense | 4/4 | - | 1 |
12-49578837-C-A | c.1312G>T | p.D438Y | Missense | 4/4 | - | 1 |
12-49578837-C-G | c.1312G>C | p.D438H | Missense | 4/4 | - | 1 |
12-49578837-C-T | c.1312G>A | p.D438N | Missense | 4/4 | - | 1 |
12-49578839-A-C | c.1310T>G | p.V437G | Missense | 4/4 | - | 1 |
12-49578839-A-G | c.1310T>C | p.V437A | Missense | 4/4 | - | 1 |
12-49578839-A-T | c.1310T>A | p.V437E | Missense | 4/4 | - | 1 |
12-49578840-C-A | c.1309G>T | p.V437L | Missense | 4/4 | - | 1 |
12-49578840-C-G | c.1309G>C | p.V437L | Missense | 4/4 | - | 1 |
12-49578840-C-T | c.1309G>A | p.V437M | Missense | 4/4 | - | 1 |
12-49578842-C-A | c.1307G>T | p.G436V | Missense | 4/4 | - | 1 |
12-49578842-C-G | c.1307G>C | p.G436A | Missense | 4/4 | - | 1 |
12-49578842-C-T | c.1307G>A | p.G436D | Missense | 4/4 | - | 3 |
12-49578843-C-G | c.1306G>C | p.G436R | Missense | 4/4 | - | 4 |
12-49578843-C-A | c.1306G>T | p.G436C | Missense | 4/4 | - | 1 |
12-49578843-C-T | c.1306G>A | p.G436S | Missense | 4/4 | - | 1 |
12-49578845-A-C | c.1304T>G | p.V435G | Missense | 4/4 | - | 1 |
12-49578845-A-G | c.1304T>C | p.V435A | Missense | 4/4 | - | 1 |
12-49578845-A-T | c.1304T>A | p.V435D | Missense | 4/4 | - | 1 |
12-49578846-C-A | c.1303G>T | p.V435F | Missense | 4/4 | - | 1 |
12-49578846-C-G | c.1303G>C | p.V435L | Missense | 4/4 | - | 1 |
12-49578846-C-T | c.1303G>A | p.V435I | Missense | 4/4 | - | 1 |
12-49578847-C-A | c.1302G>T | p.E434D | Missense | 4/4 | - | 1 |
12-49578847-C-G | c.1302G>C | p.E434D | Missense | 4/4 | - | 1 |
12-49578848-T-A | c.1301A>T | p.E434V | Missense | 4/4 | - | 1 |
12-49578848-T-C | c.1301A>G | p.E434G | Missense | 4/4 | - | 1 |
12-49578848-T-G | c.1301A>C | p.E434A | Missense | 4/4 | - | 1 |
12-49578849-C-G | c.1300G>C | p.E434Q | Missense | 4/4 | - | 1 |
12-49578849-C-T | c.1300G>A | p.E434K | Missense | 4/4 | - | 1 |
12-49578850-C-A | c.1299G>T | p.E433D | Missense | 4/4 | - | 1 |
12-49578850-C-G | c.1299G>C | p.E433D | Missense | 4/4 | - | 1 |
12-49578851-T-A | c.1298A>T | p.E433V | Missense | 4/4 | - | 1 |
12-49578851-T-C | c.1298A>G | p.E433G | Missense | 4/4 | - | 1 |
12-49578851-T-G | c.1298A>C | p.E433A | Missense | 4/4 | - | 1 |
12-49578852-C-G | c.1297G>C | p.E433Q | Missense | 4/4 | - | 1 |
12-49578852-C-T | c.1297G>A | p.E433K | Missense | 4/4 | - | 1 |
12-49578854-T-A | c.1295A>T | p.Y432F | Missense | 4/4 | - | 1 |
12-49578854-T-C | c.1295A>G | p.Y432C | Missense | 4/4 | - | 1 |
12-49578854-T-G | c.1295A>C | p.Y432S | Missense | 4/4 | - | 1 |
12-49578855-A-C | c.1294T>G | p.Y432D | Missense | 4/4 | - | 1 |
12-49578855-A-G | c.1294T>C | p.Y432H | Missense | 4/4 | - | 1 |
12-49578855-A-T | c.1294T>A | p.Y432N | Missense | 4/4 | - | 1 |
12-49578856-A-C | c.1293T>G | p.D431E | Missense | 4/4 | - | 1 |
12-49578856-A-T | c.1293T>A | p.D431E | Missense | 4/4 | - | 1 |
12-49578857-T-A | c.1292A>T | p.D431V | Missense | 4/4 | - | 1 |
12-49578857-T-C | c.1292A>G | p.D431G | Missense | 4/4 | - | 1 |
12-49578857-T-G | c.1292A>C | p.D431A | Missense | 4/4 | - | 1 |
12-49578858-C-A | c.1291G>T | p.D431Y | Missense | 4/4 | - | 1 |
12-49578858-C-G | c.1291G>C | p.D431H | Missense | 4/4 | - | 1 |
12-49578858-C-T | c.1291G>A | p.D431N | Missense | 4/4 | - | 1 |
12-49578859-C-A | c.1290G>T | p.K430N | Missense | 4/4 | - | 1 |
12-49578859-C-G | c.1290G>C | p.K430N | Missense | 4/4 | - | 1 |
12-49578860-T-A | c.1289A>T | p.K430M | Missense | 4/4 | - | 1 |
12-49578860-T-C | c.1289A>G | p.K430R | Missense | 4/4 | - | 1 |
12-49578860-T-G | c.1289A>C | p.K430T | Missense | 4/4 | - | 1 |
12-49578861-T-C | c.1288A>G | p.K430E | Missense | 4/4 | - | 1 |
12-49578861-T-G | c.1288A>C | p.K430Q | Missense | 4/4 | - | 1 |
12-49578862-C-A | c.1287G>T | p.E429D | Missense | 4/4 | - | 1 |
12-49578862-C-G | c.1287G>C | p.E429D | Missense | 4/4 | - | 1 |
12-49578863-T-A | c.1286A>T | p.E429V | Missense | 4/4 | - | 1 |
12-49578863-T-C | c.1286A>G | p.E429G | Missense | 4/4 | - | 1 |
12-49578863-T-G | c.1286A>C | p.E429A | Missense | 4/4 | - | 1 |
12-49578864-C-G | c.1285G>C | p.E429Q | Missense | 4/4 | - | 4 |
12-49578864-C-T | c.1285G>A | p.E429K | Missense | 4/4 | - | 1 |
12-49578866-A-C | c.1283T>G | p.L428R | Missense | 4/4 | - | 1 |
12-49578866-A-G | c.1283T>C | p.L428P | Missense | 4/4 | - | 1 |
12-49578866-A-T | c.1283T>A | p.L428H | Missense | 4/4 | - | 1 |
12-49578867-G-A | c.1282C>T | p.L428F | Missense | 4/4 | - | 1 |
12-49578867-G-C | c.1282C>G | p.L428V | Missense | 4/4 | - | 1 |
12-49578867-G-T | c.1282C>A | p.L428I | Missense | 4/4 | - | 1 |
12-49578869-G-A | c.1280C>T | p.A427V | Missense | 4/4 | - | 1 |
12-49578869-G-C | c.1280C>G | p.A427G | Missense | 4/4 | - | 1 |
12-49578869-G-T | c.1280C>A | p.A427D | Missense | 4/4 | - | 1 |
12-49578870-C-A | c.1279G>T | p.A427S | Missense | 4/4 | - | 1 |
12-49578870-C-G | c.1279G>C | p.A427P | Missense | 4/4 | - | 1 |
12-49578870-C-T | c.1279G>A | p.A427T | Missense | 4/4 | - | 1 |
12-49578872-G-A | c.1277C>T | p.A426V | Missense | 4/4 | - | 1 |
12-49578872-G-C | c.1277C>G | p.A426G | Missense | 4/4 | - | 1 |
12-49578872-G-T | c.1277C>A | p.A426D | Missense | 4/4 | - | 1 |
12-49578873-C-A | c.1276G>T | p.A426S | Missense | 4/4 | - | 1 |
12-49578873-C-G | c.1276G>C | p.A426P | Missense | 4/4 | - | 1 |
12-49578873-C-T | c.1276G>A | p.A426T | Missense | 4/4 | - | 1 |
12-49578874-C-A | c.1275G>T | p.M425I | Missense | 4/4 | - | 1 |
12-49578874-C-G | c.1275G>C | p.M425I | Missense | 4/4 | - | 1 |
12-49578874-C-T | c.1275G>A | p.M425I | Missense | 4/4 | - | 1 |
12-49578875-A-C | c.1274T>G | p.M425R | Missense | 4/4 | - | 1 |
12-49578875-A-G | c.1274T>C | p.M425T | Missense | 4/4 | - | 1 |
12-49578875-A-T | c.1274T>A | p.M425K | Missense | 4/4 | - | 3 |
12-49578876-T-A | c.1273A>T | p.M425L | Missense | 4/4 | - | 1 |
12-49578876-T-G | c.1273A>C | p.M425L | Missense | 4/4 | - | 1 |
12-49578876-T-C | c.1273A>G | p.M425V | Missense | 4/4 | - | 1 |
12-49578877-G-C | c.1272C>G | p.D424E | Missense | 4/4 | - | 1 |
12-49578877-G-T | c.1272C>A | p.D424E | Missense | 4/4 | - | 1 |
12-49578878-T-A | c.1271A>T | p.D424V | Missense | 4/4 | - | 1 |
12-49578878-T-C | c.1271A>G | p.D424G | Missense | 4/4 | - | 1 |
12-49578878-T-G | c.1271A>C | p.D424A | Missense | 4/4 | - | 1 |
12-49578879-C-A | c.1270G>T | p.D424Y | Missense | 4/4 | - | 1 |
12-49578879-C-G | c.1270G>C | p.D424H | Missense | 4/4 | - | 1 |
12-49578879-C-T | c.1270G>A | p.D424N | Missense | 4/4 | - | 1 |
12-49578880-C-A | c.1269G>T | p.E423D | Missense | 4/4 | - | 1 |
12-49578880-C-G | c.1269G>C | p.E423D | Missense | 4/4 | - | 1 |
12-49578881-T-A | c.1268A>T | p.E423V | Missense | 4/4 | - | 1 |
12-49578881-T-C | c.1268A>G | p.E423G | Missense | 4/4 | - | 1 |
12-49578881-T-G | c.1268A>C | p.E423A | Missense | 4/4 | - | 1 |
12-49578882-C-G | c.1267G>C | p.E423Q | Missense | 4/4 | - | 1 |
12-49578882-C-T | c.1267G>A | p.E423K | Missense | 4/4 | - | 1 |
12-49578884-C-A | c.1265G>T | p.R422L | Missense | 4/4 | - | 1 |
12-49578884-C-G | c.1265G>C | p.R422P | Missense | 4/4 | - | 1 |
12-49578884-C-T | c.1265G>A | p.R422H | Missense | 4/4 | - | 8 |
12-49578885-G-T | c.1264C>A | p.R422S | Missense | 4/4 | - | 1 |
12-49578885-G-A | c.1264C>T | p.R422C | Missense | 4/4 | - | 6 |
12-49578885-G-C | c.1264C>G | p.R422G | Missense | 4/4 | - | 1 |
12-49578887-G-A | c.1262C>T | p.A421V | Missense | 4/4 | - | 1 |
12-49578887-G-C | c.1262C>G | p.A421G | Missense | 4/4 | - | 1 |
12-49578887-G-T | c.1262C>A | p.A421D | Missense | 4/4 | - | 1 |
12-49578888-C-A | c.1261G>T | p.A421S | Missense | 4/4 | - | 1 |
12-49578888-C-G | c.1261G>C | p.A421P | Missense | 4/4 | - | 1 |
12-49578888-C-T | c.1261G>A | p.A421T | Missense | 4/4 | - | 1 |
12-49578889-C-A | c.1260G>T | p.E420D | Missense | 4/4 | - | 1 |
12-49578889-C-G | c.1260G>C | p.E420D | Missense | 4/4 | - | 1 |
12-49578890-T-A | c.1259A>T | p.E420V | Missense | 4/4 | - | 1 |
12-49578890-T-C | c.1259A>G | p.E420G | Missense | 4/4 | - | 1 |
12-49578890-T-G | c.1259A>C | p.E420A | Missense | 4/4 | - | 1 |
12-49578891-C-G | c.1258G>C | p.E420Q | Missense | 4/4 | - | 1 |
12-49578891-C-T | c.1258G>A | p.E420K | Missense | 4/4 | - | 1 |
12-49578893-G-A | c.1256C>T | p.S419L | Missense | 4/4 | - | 5 |
12-49578894-A-C | c.1255T>G | p.S419A | Missense | 4/4 | - | 1 |
12-49578894-A-G | c.1255T>C | p.S419P | Missense | 4/4 | - | 1 |
12-49578894-A-T | c.1255T>A | p.S419T | Missense | 4/4 | - | 1 |
12-49578895-A-C | c.1254T>G | p.F418L | Missense | 4/4 | - | 1 |
12-49578895-A-T | c.1254T>A | p.F418L | Missense | 4/4 | - | 1 |
12-49578896-A-C | c.1253T>G | p.F418C | Missense | 4/4 | - | 1 |
12-49578896-A-G | c.1253T>C | p.F418S | Missense | 4/4 | - | 1 |
12-49578896-A-T | c.1253T>A | p.F418Y | Missense | 4/4 | - | 1 |
12-49578897-A-C | c.1252T>G | p.F418V | Missense | 4/4 | - | 1 |
12-49578897-A-G | c.1252T>C | p.F418L | Missense | 4/4 | - | 1 |
12-49578897-A-T | c.1252T>A | p.F418I | Missense | 4/4 | - | 1 |
12-49578898-C-A | c.1251G>T | p.E417D | Missense | 4/4 | - | 1 |
12-49578898-C-G | c.1251G>C | p.E417D | Missense | 4/4 | - | 1 |
12-49578899-T-A | c.1250A>T | p.E417V | Missense | 4/4 | - | 1 |
12-49578899-T-C | c.1250A>G | p.E417G | Missense | 4/4 | - | 1 |
12-49578899-T-G | c.1250A>C | p.E417A | Missense | 4/4 | - | 1 |
12-49578900-C-G | c.1249G>C | p.E417Q | Missense | 4/4 | - | 1 |
12-49578900-C-T | c.1249G>A | p.E417K | Missense | 4/4 | - | 1 |
12-49578901-A-G | c.1248T>C | p.G416= | Synonymous | 4/4 | - | 1 |
12-49578902-C-A | c.1247G>T | p.G416V | Missense | 4/4 | - | 1 |
12-49578902-C-G | c.1247G>C | p.G416A | Missense | 4/4 | - | 1 |
12-49578902-C-T | c.1247G>A | p.G416D | Missense | 4/4 | - | 1 |
12-49578903-C-A | c.1246G>T | p.G416C | Missense | 4/4 | - | 1 |
12-49578903-C-G | c.1246G>C | p.G416R | Missense | 4/4 | - | 1 |
12-49578903-C-T | c.1246G>A | p.G416S | Missense | 4/4 | - | 2 |
12-49578904-T-A | c.1245A>T | p.E415D | Missense | 4/4 | - | 1 |
12-49578904-T-G | c.1245A>C | p.E415D | Missense | 4/4 | - | 1 |
12-49578905-T-A | c.1244A>T | p.E415V | Missense | 4/4 | - | 1 |
12-49578905-T-C | c.1244A>G | p.E415G | Missense | 4/4 | - | 1 |
12-49578905-T-G | c.1244A>C | p.E415A | Missense | 4/4 | - | 2 |
12-49578906-C-G | c.1243G>C | p.E415Q | Missense | 4/4 | - | 1 |
12-49578906-C-T | c.1243G>A | p.E415K | Missense | 4/4 | - | 1 |
12-49578907-C-A | c.1242G>T | p.E414D | Missense | 4/4 | - | 1 |
12-49578907-C-G | c.1242G>C | p.E414D | Missense | 4/4 | - | 1 |
12-49578908-T-A | c.1241A>T | p.E414V | Missense | 4/4 | - | 1 |
12-49578908-T-C | c.1241A>G | p.E414G | Missense | 4/4 | - | 1 |
12-49578908-T-G | c.1241A>C | p.E414A | Missense | 4/4 | - | 1 |
12-49578909-C-G | c.1240G>C | p.E414Q | Missense | 4/4 | - | 1 |
12-49578909-C-T | c.1240G>A | p.E414K | Missense | 4/4 | - | 1 |
12-49578910-C-A | c.1239G>T | p.M413I | Missense | 4/4 | - | 1 |
12-49578910-C-G | c.1239G>C | p.M413I | Missense | 4/4 | - | 1 |
12-49578910-C-T | c.1239G>A | p.M413I | Missense | 4/4 | - | 1 |
12-49578911-A-C | c.1238T>G | p.M413R | Missense | 4/4 | - | 1 |
12-49578911-A-G | c.1238T>C | p.M413T | Missense | 4/4 | - | 1 |
12-49578911-A-T | c.1238T>A | p.M413K | Missense | 4/4 | - | 1 |
12-49578912-T-A | c.1237A>T | p.M413L | Missense | 4/4 | - | 1 |
12-49578912-T-G | c.1237A>C | p.M413L | Missense | 4/4 | - | 1 |
12-49578912-T-C | c.1237A>G | p.M413V | Missense | 4/4 | - | 1 |
12-49578914-C-A | c.1235G>T | p.G412V | Missense | 4/4 | - | 1 |
12-49578914-C-G | c.1235G>C | p.G412A | Missense | 4/4 | - | 1 |
12-49578914-C-T | c.1235G>A | p.G412E | Missense | 4/4 | - | 1 |
12-49578915-C-A | c.1234G>T | p.G412W | Missense | 4/4 | - | 1 |
12-49578915-C-G | c.1234G>C | p.G412R | Missense | 4/4 | - | 1 |
12-49578915-C-T | c.1234G>A | p.G412R | Missense | 4/4 | - | 1 |
12-49578916-C-A | c.1233G>T | p.E411D | Missense | 4/4 | - | 1 |
12-49578916-C-G | c.1233G>C | p.E411D | Missense | 4/4 | - | 1 |
12-49578917-T-A | c.1232A>T | p.E411V | Missense | 4/4 | - | 1 |
12-49578917-T-C | c.1232A>G | p.E411G | Missense | 4/4 | - | 1 |
12-49578917-T-G | c.1232A>C | p.E411A | Missense | 4/4 | - | 1 |
12-49578918-C-G | c.1231G>C | p.E411Q | Missense | 4/4 | - | 1 |
12-49578918-C-T | c.1231G>A | p.E411K | Missense | 4/4 | - | 1 |
12-49578919-C-A | c.1230G>T | p.G410= | Synonymous | 4/4 | - | 2 |
12-49578919-C-G | c.1230G>C | p.G410= | Synonymous | 4/4 | - | 1 |
12-49578920-C-A | c.1229G>T | p.G410V | Missense | 4/4 | - | 1 |
12-49578920-C-G | c.1229G>C | p.G410A | Missense | 4/4 | - | 1 |
12-49578920-C-T | c.1229G>A | p.G410E | Missense | 4/4 | - | 1 |
12-49578921-C-A | c.1228G>T | p.G410W | Missense | 4/4 | - | 1 |
12-49578921-C-G | c.1228G>C | p.G410R | Missense | 4/4 | - | 1 |
12-49578921-C-T | c.1228G>A | p.G410R | Missense | 4/4 | - | 1 |
12-49578923-A-C | c.1226T>G | p.V409G | Missense | 4/4 | - | 1 |
12-49578923-A-G | c.1226T>C | p.V409A | Missense | 4/4 | - | 3 |
12-49578923-A-T | c.1226T>A | p.V409D | Missense | 4/4 | - | 1 |
12-49578924-C-A | c.1225G>T | p.V409F | Missense | 4/4 | - | 1 |
12-49578924-C-G | c.1225G>C | p.V409L | Missense | 4/4 | - | 1 |
12-49578924-C-T | c.1225G>A | p.V409I | Missense | 4/4 | - | 3 |
12-49578925-G-T | c.1224C>A | p.Y408* | Nonsense | 4/4 | - | 2 |
12-49578925-G-C | c.1224C>G | p.Y408* | Nonsense | 4/4 | - | 1 |
12-49578926-T-A | c.1223A>T | p.Y408F | Missense | 4/4 | - | 1 |
12-49578926-T-C | c.1223A>G | p.Y408C | Missense | 4/4 | - | 1 |
12-49578926-T-G | c.1223A>C | p.Y408S | Missense | 4/4 | - | 1 |
12-49578927-A-C | c.1222T>G | p.Y408D | Missense | 4/4 | - | 1 |
12-49578927-A-G | c.1222T>C | p.Y408H | Missense | 4/4 | - | 1 |
12-49578927-A-T | c.1222T>A | p.Y408N | Missense | 4/4 | - | 1 |
12-49578928-C-A | c.1221G>T | p.W407C | Missense | 4/4 | - | 1 |
12-49578928-C-G | c.1221G>C | p.W407C | Missense | 4/4 | - | 1 |
12-49578929-C-A | c.1220G>T | p.W407L | Missense | 4/4 | - | 1 |
12-49578929-C-G | c.1220G>C | p.W407S | Missense | 4/4 | - | 1 |
12-49578929-C-T | c.1220G>A | p.W407* | Nonsense | 4/4 | - | 1 |
12-49578930-A-C | c.1219T>G | p.W407G | Missense | 4/4 | - | 1 |
12-49578930-A-G | c.1219T>C | p.W407R | Missense | 4/4 | - | 1 |
12-49578930-A-T | c.1219T>A | p.W407R | Missense | 4/4 | - | 1 |
12-49578931-G-C | c.1218C>G | p.H406Q | Missense | 4/4 | - | 1 |
12-49578931-G-T | c.1218C>A | p.H406Q | Missense | 4/4 | - | 1 |
12-49578932-T-A | c.1217A>T | p.H406L | Missense | 4/4 | - | 1 |
12-49578932-T-C | c.1217A>G | p.H406R | Missense | 4/4 | - | 1 |
12-49578932-T-G | c.1217A>C | p.H406P | Missense | 4/4 | - | 1 |
12-49578933-G-A | c.1216C>T | p.H406Y | Missense | 4/4 | - | 1 |
12-49578933-G-C | c.1216C>G | p.H406D | Missense | 4/4 | - | 1 |
12-49578933-G-T | c.1216C>A | p.H406N | Missense | 4/4 | - | 1 |
12-49578935-A-C | c.1214T>G | p.V405G | Missense | 4/4 | - | 1 |
12-49578935-A-G | c.1214T>C | p.V405A | Missense | 4/4 | - | 1 |
12-49578935-A-T | c.1214T>A | p.V405D | Missense | 4/4 | - | 1 |
12-49578936-C-A | c.1213G>T | p.V405F | Missense | 4/4 | - | 1 |
12-49578936-C-G | c.1213G>C | p.V405L | Missense | 4/4 | - | 1 |
12-49578936-C-T | c.1213G>A | p.V405I | Missense | 4/4 | - | 1 |
12-49578937-A-C | c.1212T>G | p.F404L | Missense | 4/4 | - | 1 |
12-49578937-A-T | c.1212T>A | p.F404L | Missense | 4/4 | - | 1 |
12-49578938-A-C | c.1211T>G | p.F404C | Missense | 4/4 | - | 1 |
12-49578938-A-G | c.1211T>C | p.F404S | Missense | 4/4 | - | 1 |
12-49578938-A-T | c.1211T>A | p.F404Y | Missense | 4/4 | - | 1 |
12-49578939-A-C | c.1210T>G | p.F404V | Missense | 4/4 | - | 1 |
12-49578939-A-G | c.1210T>C | p.F404L | Missense | 4/4 | - | 1 |
12-49578939-A-T | c.1210T>A | p.F404I | Missense | 4/4 | - | 1 |
12-49578941-G-A | c.1208C>T | p.A403V | Missense | 4/4 | - | 1 |
12-49578941-G-C | c.1208C>G | p.A403G | Missense | 4/4 | - | 1 |
12-49578941-G-T | c.1208C>A | p.A403D | Missense | 4/4 | - | 1 |
12-49578942-C-A | c.1207G>T | p.A403S | Missense | 4/4 | - | 1 |
12-49578942-C-G | c.1207G>C | p.A403P | Missense | 4/4 | - | 1 |
12-49578942-C-T | c.1207G>A | p.A403T | Missense | 4/4 | - | 1 |
12-49578944-C-T | c.1205G>A | p.R402H | Missense | 4/4 | - | 22 |
12-49578944-C-A | c.1205G>T | p.R402L | Missense | 4/4 | - | 6 |
12-49578944-C-G | c.1205G>C | p.R402P | Missense | 4/4 | - | 1 |
12-49578945-G-A | c.1204C>T | p.R402C | Missense | 4/4 | - | 14 |
12-49578945-G-C | c.1204C>G | p.R402G | Missense | 4/4 | - | 1 |
12-49578945-G-T | c.1204C>A | p.R402S | Missense | 4/4 | - | 2 |
12-49578946-T-A | c.1203A>T | p.K401N | Missense | 4/4 | - | 1 |
12-49578946-T-G | c.1203A>C | p.K401N | Missense | 4/4 | - | 1 |
12-49578946-T-C | c.1203A>G | p.K401= | Synonymous | 4/4 | - | 1 |
12-49578947-T-A | c.1202A>T | p.K401I | Missense | 4/4 | - | 1 |
12-49578947-T-C | c.1202A>G | p.K401R | Missense | 4/4 | - | 1 |
12-49578947-T-G | c.1202A>C | p.K401T | Missense | 4/4 | - | 1 |
12-49578948-T-C | c.1201A>G | p.K401E | Missense | 4/4 | - | 1 |
12-49578948-T-G | c.1201A>C | p.K401Q | Missense | 4/4 | - | 1 |
12-49578950-G-A | c.1199C>T | p.A400V | Missense | 4/4 | - | 1 |
12-49578950-G-C | c.1199C>G | p.A400G | Missense | 4/4 | - | 1 |
12-49578950-G-T | c.1199C>A | p.A400D | Missense | 4/4 | - | 1 |
12-49578951-C-A | c.1198G>T | p.A400S | Missense | 4/4 | - | 1 |
12-49578951-C-G | c.1198G>C | p.A400P | Missense | 4/4 | - | 1 |
12-49578951-C-T | c.1198G>A | p.A400T | Missense | 4/4 | - | 1 |
12-49578953-T-A | c.1196A>T | p.Y399F | Missense | 4/4 | - | 1 |
12-49578953-T-C | c.1196A>G | p.Y399C | Missense | 4/4 | - | 1 |
12-49578953-T-G | c.1196A>C | p.Y399S | Missense | 4/4 | - | 1 |
12-49578954-A-C | c.1195T>G | p.Y399D | Missense | 4/4 | - | 1 |
12-49578954-A-G | c.1195T>C | p.Y399H | Missense | 4/4 | - | 1 |
12-49578954-A-T | c.1195T>A | p.Y399N | Missense | 4/4 | - | 1 |
12-49578955-C-G | c.1194G>C | p.M398I | Missense | 4/4 | - | 2 |
12-49578955-C-T | c.1194G>A | p.M398I | Missense | 4/4 | - | 2 |
12-49578955-C-A | c.1194G>T | p.M398I | Missense | 4/4 | - | 2 |
12-49578956-A-C | c.1193T>G | p.M398R | Missense | 4/4 | - | 1 |
12-49578956-A-G | c.1193T>C | p.M398T | Missense | 4/4 | - | 1 |
12-49578956-A-T | c.1193T>A | p.M398K | Missense | 4/4 | - | 1 |
12-49578957-T-A | c.1192A>T | p.M398L | Missense | 4/4 | - | 1 |
12-49578957-T-G | c.1192A>C | p.M398L | Missense | 4/4 | - | 1 |
12-49578957-T-C | c.1192A>G | p.M398V | Missense | 4/4 | - | 1 |
12-49578959-A-C | c.1190T>G | p.L397R | Missense | 4/4 | - | 1 |
12-49578959-A-G | c.1190T>C | p.L397P | Missense | 4/4 | - | 6 |
12-49578959-A-T | c.1190T>A | p.L397Q | Missense | 4/4 | - | 1 |
12-49578960-G-C | c.1189C>G | p.L397V | Missense | 4/4 | - | 1 |
12-49578960-G-T | c.1189C>A | p.L397M | Missense | 4/4 | - | 1 |
12-49578961-G-C | c.1188C>G | p.D396E | Missense | 4/4 | - | 1 |
12-49578961-G-T | c.1188C>A | p.D396E | Missense | 4/4 | - | 1 |
12-49578962-T-A | c.1187A>T | p.D396V | Missense | 4/4 | - | 1 |
12-49578962-T-C | c.1187A>G | p.D396G | Missense | 4/4 | - | 1 |
12-49578962-T-G | c.1187A>C | p.D396A | Missense | 4/4 | - | 1 |
12-49578963-C-A | c.1186G>T | p.D396Y | Missense | 4/4 | - | 3 |
12-49578963-C-G | c.1186G>C | p.D396H | Missense | 4/4 | - | 1 |
12-49578963-C-T | c.1186G>A | p.D396N | Missense | 4/4 | - | 1 |
12-49578964-A-C | c.1185T>G | p.F395L | Missense | 4/4 | - | 1 |
12-49578964-A-T | c.1185T>A | p.F395L | Missense | 4/4 | - | 1 |
12-49578965-A-C | c.1184T>G | p.F395C | Missense | 4/4 | - | 1 |
12-49578965-A-G | c.1184T>C | p.F395S | Missense | 4/4 | - | 1 |
12-49578965-A-T | c.1184T>A | p.F395Y | Missense | 4/4 | - | 1 |
12-49578966-A-C | c.1183T>G | p.F395V | Missense | 4/4 | - | 1 |
12-49578966-A-G | c.1183T>C | p.F395L | Missense | 4/4 | - | 1 |
12-49578966-A-T | c.1183T>A | p.F395I | Missense | 4/4 | - | 1 |
12-49578967-C-G | c.1182G>C | p.K394N | Missense | 4/4 | - | 2 |
12-49578967-C-A | c.1182G>T | p.K394N | Missense | 4/4 | - | 1 |
12-49578968-T-A | c.1181A>T | p.K394M | Missense | 4/4 | - | 1 |
12-49578968-T-C | c.1181A>G | p.K394R | Missense | 4/4 | - | 1 |
12-49578968-T-G | c.1181A>C | p.K394T | Missense | 4/4 | - | 1 |
12-49578969-T-C | c.1180A>G | p.K394E | Missense | 4/4 | - | 1 |
12-49578969-T-G | c.1180A>C | p.K394Q | Missense | 4/4 | - | 1 |
12-49578970-G-C | c.1179C>G | p.H393Q | Missense | 4/4 | - | 1 |
12-49578970-G-T | c.1179C>A | p.H393Q | Missense | 4/4 | - | 1 |
12-49578971-T-A | c.1178A>T | p.H393L | Missense | 4/4 | - | 1 |
12-49578971-T-C | c.1178A>G | p.H393R | Missense | 4/4 | - | 1 |
12-49578971-T-G | c.1178A>C | p.H393P | Missense | 4/4 | - | 1 |
12-49578972-G-A | c.1177C>T | p.H393Y | Missense | 4/4 | - | 3 |
12-49578972-G-C | c.1177C>G | p.H393D | Missense | 4/4 | - | 1 |
12-49578972-G-T | c.1177C>A | p.H393N | Missense | 4/4 | - | 1 |
12-49578973-G-C | c.1176C>G | p.D392E | Missense | 4/4 | - | 1 |
12-49578973-G-T | c.1176C>A | p.D392E | Missense | 4/4 | - | 1 |
12-49578974-T-A | c.1175A>T | p.D392V | Missense | 4/4 | - | 1 |
12-49578974-T-C | c.1175A>G | p.D392G | Missense | 4/4 | - | 1 |
12-49578974-T-G | c.1175A>C | p.D392A | Missense | 4/4 | - | 1 |
12-49578975-C-A | c.1174G>T | p.D392Y | Missense | 4/4 | - | 1 |
12-49578975-C-G | c.1174G>C | p.D392H | Missense | 4/4 | - | 1 |
12-49578975-C-T | c.1174G>A | p.D392N | Missense | 4/4 | - | 1 |
12-49578977-A-C | c.1172T>G | p.L391R | Missense | 4/4 | - | 1 |
12-49578977-A-G | c.1172T>C | p.L391P | Missense | 4/4 | - | 1 |
12-49578977-A-T | c.1172T>A | p.L391Q | Missense | 4/4 | - | 1 |
12-49578978-G-C | c.1171C>G | p.L391V | Missense | 4/4 | - | 1 |
12-49578978-G-T | c.1171C>A | p.L391M | Missense | 4/4 | - | 1 |
12-49578980-C-A | c.1169G>T | p.R390L | Missense | 4/4 | - | 1 |
12-49578980-C-G | c.1169G>C | p.R390P | Missense | 4/4 | - | 1 |
12-49578980-C-T | c.1169G>A | p.R390H | Missense | 4/4 | - | 3 |
12-49578981-G-A | c.1168C>T | p.R390C | Missense | 4/4 | - | 9 |
12-49578981-G-C | c.1168C>G | p.R390G | Missense | 4/4 | - | 1 |
12-49578981-G-T | c.1168C>A | p.R390S | Missense | 4/4 | - | 1 |
12-49578983-G-A | c.1166C>T | p.A389V | Missense | 4/4 | - | 1 |
12-49578983-G-C | c.1166C>G | p.A389G | Missense | 4/4 | - | 1 |
12-49578983-G-T | c.1166C>A | p.A389D | Missense | 4/4 | - | 1 |
12-49578984-C-A | c.1165G>T | p.A389S | Missense | 4/4 | - | 1 |
12-49578984-C-G | c.1165G>C | p.A389P | Missense | 4/4 | - | 1 |
12-49578984-C-T | c.1165G>A | p.A389T | Missense | 4/4 | - | 1 |
12-49578985-C-A | c.1164G>T | p.W388C | Missense | 4/4 | - | 1 |
12-49578985-C-G | c.1164G>C | p.W388C | Missense | 4/4 | - | 1 |
12-49578986-C-A | c.1163G>T | p.W388L | Missense | 4/4 | - | 1 |
12-49578986-C-G | c.1163G>C | p.W388S | Missense | 4/4 | - | 1 |
12-49578987-A-C | c.1162T>G | p.W388G | Missense | 4/4 | - | 1 |
12-49578987-A-G | c.1162T>C | p.W388R | Missense | 4/4 | - | 1 |
12-49578987-A-T | c.1162T>A | p.W388R | Missense | 4/4 | - | 1 |
12-49578989-G-A | c.1160C>T | p.A387V | Missense | 4/4 | - | 4 |
12-49578989-G-C | c.1160C>G | p.A387G | Missense | 4/4 | - | 1 |
12-49578989-G-T | c.1160C>A | p.A387D | Missense | 4/4 | - | 1 |
12-49578990-C-A | c.1159G>T | p.A387S | Missense | 4/4 | - | 1 |
12-49578990-C-G | c.1159G>C | p.A387P | Missense | 4/4 | - | 1 |
12-49578990-C-T | c.1159G>A | p.A387T | Missense | 4/4 | - | 1 |
12-49578991-C-A | c.1158G>T | p.E386D | Missense | 4/4 | - | 1 |
12-49578991-C-G | c.1158G>C | p.E386D | Missense | 4/4 | - | 1 |
12-49578992-T-A | c.1157A>T | p.E386V | Missense | 4/4 | - | 1 |
12-49578992-T-C | c.1157A>G | p.E386G | Missense | 4/4 | - | 1 |
12-49578992-T-G | c.1157A>C | p.E386A | Missense | 4/4 | - | 1 |
12-49578993-C-G | c.1156G>C | p.E386Q | Missense | 4/4 | - | 1 |
12-49578993-C-T | c.1156G>A | p.E386K | Missense | 4/4 | - | 1 |
12-49578993-C-A | c.1156G>T | p.E386* | Nonsense | 4/4 | - | 1 |
12-49578995-G-A | c.1154C>T | p.A385V | Missense | 4/4 | - | 1 |
12-49578995-G-C | c.1154C>G | p.A385G | Missense | 4/4 | - | 1 |
12-49578995-G-T | c.1154C>A | p.A385D | Missense | 4/4 | - | 1 |
12-49578996-C-A | c.1153G>T | p.A385S | Missense | 4/4 | - | 1 |
12-49578996-C-G | c.1153G>C | p.A385P | Missense | 4/4 | - | 1 |
12-49578996-C-T | c.1153G>A | p.A385T | Missense | 4/4 | - | 1 |
12-49578997-A-C | c.1152T>G | p.I384M | Missense | 4/4 | - | 1 |
12-49578998-A-C | c.1151T>G | p.I384S | Missense | 4/4 | - | 1 |
12-49578998-A-G | c.1151T>C | p.I384T | Missense | 4/4 | - | 1 |
12-49578998-A-T | c.1151T>A | p.I384N | Missense | 4/4 | - | 1 |
12-49578999-T-A | c.1150A>T | p.I384F | Missense | 4/4 | - | 1 |
12-49578999-T-C | c.1150A>G | p.I384V | Missense | 4/4 | - | 1 |
12-49578999-T-G | c.1150A>C | p.I384L | Missense | 4/4 | - | 1 |
12-49579001-G-A | c.1148C>T | p.A383V | Missense | 4/4 | - | 2 |
12-49579001-G-C | c.1148C>G | p.A383G | Missense | 4/4 | - | 1 |
12-49579001-G-T | c.1148C>A | p.A383D | Missense | 4/4 | - | 1 |
12-49579002-C-A | c.1147G>T | p.A383S | Missense | 4/4 | - | 1 |
12-49579002-C-G | c.1147G>C | p.A383P | Missense | 4/4 | - | 1 |
12-49579002-C-T | c.1147G>A | p.A383T | Missense | 4/4 | - | 1 |
12-49579004-G-A | c.1145C>T | p.T382I | Missense | 4/4 | - | 1 |
12-49579004-G-C | c.1145C>G | p.T382R | Missense | 4/4 | - | 1 |
12-49579004-G-T | c.1145C>A | p.T382K | Missense | 4/4 | - | 1 |
12-49579005-T-A | c.1144A>T | p.T382S | Missense | 4/4 | - | 1 |
12-49579005-T-C | c.1144A>G | p.T382A | Missense | 4/4 | - | 1 |
12-49579005-T-G | c.1144A>C | p.T382P | Missense | 4/4 | - | 1 |
12-49579007-G-C | c.1142C>G | p.T381S | Missense | 4/4 | - | 1 |
12-49579007-G-A | c.1142C>T | p.T381I | Missense | 4/4 | - | 1 |
12-49579007-G-T | c.1142C>A | p.T381N | Missense | 4/4 | - | 1 |
12-49579008-T-A | c.1141A>T | p.T381S | Missense | 4/4 | - | 1 |
12-49579008-T-C | c.1141A>G | p.T381A | Missense | 4/4 | - | 1 |
12-49579008-T-G | c.1141A>C | p.T381P | Missense | 4/4 | - | 1 |
12-49579009-G-C | c.1140C>G | p.N380K | Missense | 4/4 | - | 1 |
12-49579009-G-T | c.1140C>A | p.N380K | Missense | 4/4 | - | 1 |
12-49579010-T-A | c.1139A>T | p.N380I | Missense | 4/4 | - | 1 |
12-49579010-T-C | c.1139A>G | p.N380S | Missense | 4/4 | - | 1 |
12-49579010-T-G | c.1139A>C | p.N380T | Missense | 4/4 | - | 1 |
12-49579011-T-A | c.1138A>T | p.N380Y | Missense | 4/4 | - | 1 |
12-49579011-T-C | c.1138A>G | p.N380D | Missense | 4/4 | - | 1 |
12-49579011-T-G | c.1138A>C | p.N380H | Missense | 4/4 | - | 1 |
12-49579012-G-C | c.1137C>G | p.S379R | Missense | 4/4 | - | 1 |
12-49579012-G-T | c.1137C>A | p.S379R | Missense | 4/4 | - | 1 |
12-49579013-C-A | c.1136G>T | p.S379I | Missense | 4/4 | - | 1 |
12-49579013-C-G | c.1136G>C | p.S379T | Missense | 4/4 | - | 1 |
12-49579013-C-T | c.1136G>A | p.S379N | Missense | 4/4 | - | 1 |
12-49579014-T-A | c.1135A>T | p.S379C | Missense | 4/4 | - | 1 |
12-49579014-T-C | c.1135A>G | p.S379G | Missense | 4/4 | - | 1 |
12-49579014-T-G | c.1135A>C | p.S379R | Missense | 4/4 | - | 1 |
12-49579015-C-T | c.1134G>A | p.L378= | Synonymous | 4/4 | - | 1 |
12-49579015-C-A | c.1134G>T | p.L378= | Synonymous | 4/4 | - | 1 |
12-49579015-C-G | c.1134G>C | p.L378= | Synonymous | 4/4 | - | 1 |
12-49579016-A-C | c.1133T>G | p.L378R | Missense | 4/4 | - | 1 |
12-49579016-A-G | c.1133T>C | p.L378P | Missense | 4/4 | - | 1 |
12-49579016-A-T | c.1133T>A | p.L378Q | Missense | 4/4 | - | 1 |
12-49579017-G-C | c.1132C>G | p.L378V | Missense | 4/4 | - | 1 |
12-49579017-G-T | c.1132C>A | p.L378M | Missense | 4/4 | - | 1 |
12-49579018-C-A | c.1131G>T | p.M377I | Missense | 4/4 | - | 1 |
12-49579018-C-G | c.1131G>C | p.M377I | Missense | 4/4 | - | 1 |
12-49579018-C-T | c.1131G>A | p.M377I | Missense | 4/4 | - | 1 |
12-49579019-A-C | c.1130T>G | p.M377R | Missense | 4/4 | - | 1 |
12-49579019-A-G | c.1130T>C | p.M377T | Missense | 4/4 | - | 1 |
12-49579019-A-T | c.1130T>A | p.M377K | Missense | 4/4 | - | 1 |
12-49579020-T-A | c.1129A>T | p.M377L | Missense | 4/4 | - | 1 |
12-49579020-T-G | c.1129A>C | p.M377L | Missense | 4/4 | - | 1 |
12-49579020-T-C | c.1129A>G | p.M377V | Missense | 4/4 | - | 2 |
12-49579021-G-C | c.1128C>G | p.C376W | Missense | 4/4 | - | 1 |
12-49579022-C-G | c.1127G>C | p.C376S | Missense | 4/4 | - | 1 |
12-49579022-C-A | c.1127G>T | p.C376F | Missense | 4/4 | - | 1 |
12-49579022-C-T | c.1127G>A | p.C376Y | Missense | 4/4 | - | 1 |
12-49579023-A-C | c.1126T>G | p.C376G | Missense | 4/4 | - | 1 |
12-49579023-A-G | c.1126T>C | p.C376R | Missense | 4/4 | - | 1 |
12-49579023-A-T | c.1126T>A | p.C376S | Missense | 4/4 | - | 1 |
12-49579025-A-C | c.1124T>G | p.V375G | Missense | 4/4 | - | 1 |
12-49579025-A-G | c.1124T>C | p.V375A | Missense | 4/4 | - | 1 |
12-49579025-A-T | c.1124T>A | p.V375E | Missense | 4/4 | - | 1 |
12-49579026-C-A | c.1123G>T | p.V375L | Missense | 4/4 | - | 1 |
12-49579026-C-G | c.1123G>C | p.V375L | Missense | 4/4 | - | 1 |
12-49579026-C-T | c.1123G>A | p.V375M | Missense | 4/4 | - | 1 |
12-49579028-G-A | c.1121C>T | p.A374V | Missense | 4/4 | - | 1 |
12-49579028-G-C | c.1121C>G | p.A374G | Missense | 4/4 | - | 1 |
12-49579028-G-T | c.1121C>A | p.A374D | Missense | 4/4 | - | 1 |
12-49579029-C-A | c.1120G>T | p.A374S | Missense | 4/4 | - | 1 |
12-49579029-C-G | c.1120G>C | p.A374P | Missense | 4/4 | - | 1 |
12-49579029-C-T | c.1120G>A | p.A374T | Missense | 4/4 | - | 1 |
12-49579030-T-A | c.1119A>T | p.R373S | Missense | 4/4 | - | 1 |
12-49579030-T-G | c.1119A>C | p.R373S | Missense | 4/4 | - | 1 |
12-49579031-C-A | c.1118G>T | p.R373I | Missense | 4/4 | - | 1 |
12-49579031-C-G | c.1118G>C | p.R373T | Missense | 4/4 | - | 1 |
12-49579031-C-T | c.1118G>A | p.R373K | Missense | 4/4 | - | 2 |
12-49579032-T-C | c.1117A>G | p.R373G | Missense | 4/4 | - | 1 |
12-49579033-C-A | c.1116G>T | p.Q372H | Missense | 4/4 | - | 1 |
12-49579033-C-G | c.1116G>C | p.Q372H | Missense | 4/4 | - | 1 |
12-49579034-T-A | c.1115A>T | p.Q372L | Missense | 4/4 | - | 1 |
12-49579034-T-C | c.1115A>G | p.Q372R | Missense | 4/4 | - | 1 |
12-49579034-T-G | c.1115A>C | p.Q372P | Missense | 4/4 | - | 1 |
12-49579035-G-C | c.1114C>G | p.Q372E | Missense | 4/4 | - | 1 |
12-49579035-G-T | c.1114C>A | p.Q372K | Missense | 4/4 | - | 1 |
12-49579037-A-C | c.1112T>G | p.V371G | Missense | 4/4 | - | 1 |
12-49579037-A-G | c.1112T>C | p.V371A | Missense | 4/4 | - | 1 |
12-49579037-A-T | c.1112T>A | p.V371E | Missense | 4/4 | - | 4 |
12-49579038-C-A | c.1111G>T | p.V371L | Missense | 4/4 | - | 1 |
12-49579038-C-G | c.1111G>C | p.V371L | Missense | 4/4 | - | 1 |
12-49579038-C-T | c.1111G>A | p.V371I | Missense | 4/4 | - | 1 |
12-49579039-C-A | c.1110G>T | p.K370N | Missense | 4/4 | - | 1 |
12-49579039-C-G | c.1110G>C | p.K370N | Missense | 4/4 | - | 1 |
12-49579040-T-A | c.1109A>T | p.K370M | Missense | 4/4 | - | 1 |
12-49579040-T-C | c.1109A>G | p.K370R | Missense | 4/4 | - | 1 |
12-49579040-T-G | c.1109A>C | p.K370T | Missense | 4/4 | - | 1 |
12-49579041-T-C | c.1108A>G | p.K370E | Missense | 4/4 | - | 1 |
12-49579041-T-G | c.1108A>C | p.K370Q | Missense | 4/4 | - | 1 |
12-49579043-G-A | c.1106C>T | p.A369V | Missense | 4/4 | - | 2 |
12-49579043-G-C | c.1106C>G | p.A369G | Missense | 4/4 | - | 1 |
12-49579043-G-T | c.1106C>A | p.A369D | Missense | 4/4 | - | 1 |
12-49579044-C-A | c.1105G>T | p.A369S | Missense | 4/4 | - | 1 |
12-49579044-C-G | c.1105G>C | p.A369P | Missense | 4/4 | - | 1 |
12-49579044-C-T | c.1105G>A | p.A369T | Missense | 4/4 | - | 3 |
12-49579046-A-C | c.1103T>G | p.L368R | Missense | 4/4 | - | 1 |
12-49579046-A-G | c.1103T>C | p.L368P | Missense | 4/4 | - | 1 |
12-49579046-A-T | c.1103T>A | p.L368Q | Missense | 4/4 | - | 1 |
12-49579047-G-C | c.1102C>G | p.L368V | Missense | 4/4 | - | 1 |
12-49579047-G-T | c.1102C>A | p.L368M | Missense | 4/4 | - | 1 |
12-49579048-G-C | c.1101C>G | p.D367E | Missense | 4/4 | - | 1 |
12-49579048-G-T | c.1101C>A | p.D367E | Missense | 4/4 | - | 1 |
12-49579049-T-A | c.1100A>T | p.D367V | Missense | 4/4 | - | 1 |
12-49579049-T-C | c.1100A>G | p.D367G | Missense | 4/4 | - | 1 |
12-49579049-T-G | c.1100A>C | p.D367A | Missense | 4/4 | - | 1 |
12-49579050-C-A | c.1099G>T | p.D367Y | Missense | 4/4 | - | 1 |
12-49579050-C-G | c.1099G>C | p.D367H | Missense | 4/4 | - | 1 |
12-49579050-C-T | c.1099G>A | p.D367N | Missense | 4/4 | - | 1 |
12-49579051-T-A | c.1098A>T | p.G366= | Synonymous | 4/4 | - | 1 |
12-49579051-T-G | c.1098A>C | p.G366= | Synonymous | 4/4 | - | 1 |
12-49579052-C-A | c.1097G>T | p.G366V | Missense | 4/4 | - | 1 |
12-49579052-C-G | c.1097G>C | p.G366A | Missense | 4/4 | - | 1 |
12-49579052-C-T | c.1097G>A | p.G366E | Missense | 4/4 | - | 1 |
12-49579053-C-G | c.1096G>C | p.G366R | Missense | 4/4 | - | 3 |
12-49579053-C-T | c.1096G>A | p.G366R | Missense | 4/4 | - | 2 |
12-49579055-C-A | c.1094G>T | p.G365V | Missense | 4/4 | - | 1 |
12-49579055-C-G | c.1094G>C | p.G365A | Missense | 4/4 | - | 1 |
12-49579055-C-T | c.1094G>A | p.G365D | Missense | 4/4 | - | 1 |
12-49579056-C-A | c.1093G>T | p.G365C | Missense | 4/4 | - | 1 |
12-49579056-C-G | c.1093G>C | p.G365R | Missense | 4/4 | - | 1 |
12-49579056-C-T | c.1093G>A | p.G365S | Missense | 4/4 | - | 1 |
12-49579058-G-A | c.1091C>T | p.P364L | Missense | 4/4 | - | 1 |
12-49579058-G-C | c.1091C>G | p.P364R | Missense | 4/4 | - | 1 |
12-49579058-G-T | c.1091C>A | p.P364H | Missense | 4/4 | - | 1 |
12-49579059-G-A | c.1090C>T | p.P364S | Missense | 4/4 | - | 1 |
12-49579059-G-C | c.1090C>G | p.P364A | Missense | 4/4 | - | 1 |
12-49579059-G-T | c.1090C>A | p.P364T | Missense | 4/4 | - | 1 |
12-49579060-C-A | c.1089G>T | p.V363= | Synonymous | 4/4 | - | 1 |
12-49579060-C-G | c.1089G>C | p.V363= | Synonymous | 4/4 | - | 1 |
12-49579060-C-T | c.1089G>A | p.V363= | Synonymous | 4/4 | - | 1 |
12-49579061-A-C | c.1088T>G | p.V363G | Missense | 4/4 | - | 1 |
12-49579061-A-G | c.1088T>C | p.V363A | Missense | 4/4 | - | 1 |
12-49579061-A-T | c.1088T>A | p.V363E | Missense | 4/4 | - | 1 |
12-49579062-C-A | c.1087G>T | p.V363L | Missense | 4/4 | - | 1 |
12-49579062-C-G | c.1087G>C | p.V363L | Missense | 4/4 | - | 1 |
12-49579062-C-T | c.1087G>A | p.V363M | Missense | 4/4 | - | 1 |
12-49579064-A-C | c.1085T>G | p.V362G | Missense | 4/4 | - | 1 |
12-49579064-A-G | c.1085T>C | p.V362A | Missense | 4/4 | - | 1 |
12-49579064-A-T | c.1085T>A | p.V362E | Missense | 4/4 | - | 1 |
12-49579065-C-A | c.1084G>T | p.V362L | Missense | 4/4 | - | 1 |
12-49579065-C-G | c.1084G>C | p.V362L | Missense | 4/4 | - | 1 |
12-49579065-C-T | c.1084G>A | p.V362M | Missense | 4/4 | - | 1 |
12-49579067-G-C | c.1082C>G | p.T361S | Missense | 4/4 | - | 1 |
12-49579067-G-A | c.1082C>T | p.T361I | Missense | 4/4 | - | 1 |
12-49579067-G-T | c.1082C>A | p.T361N | Missense | 4/4 | - | 1 |
12-49579068-T-A | c.1081A>T | p.T361S | Missense | 4/4 | - | 1 |
12-49579068-T-C | c.1081A>G | p.T361A | Missense | 4/4 | - | 1 |
12-49579068-T-G | c.1081A>C | p.T361P | Missense | 4/4 | - | 1 |
12-49579070-G-A | c.1079C>T | p.P360L | Missense | 4/4 | - | 1 |
12-49579070-G-C | c.1079C>G | p.P360R | Missense | 4/4 | - | 1 |
12-49579070-G-T | c.1079C>A | p.P360H | Missense | 4/4 | - | 1 |
12-49579071-G-A | c.1078C>T | p.P360S | Missense | 4/4 | - | 1 |
12-49579071-G-C | c.1078C>G | p.P360A | Missense | 4/4 | - | 1 |
12-49579071-G-T | c.1078C>A | p.P360T | Missense | 4/4 | - | 1 |
12-49579073-G-A | c.1076C>T | p.P359L | Missense | 4/4 | - | 1 |
12-49579073-G-C | c.1076C>G | p.P359R | Missense | 4/4 | - | 1 |
12-49579073-G-T | c.1076C>A | p.P359H | Missense | 4/4 | - | 1 |
12-49579074-G-A | c.1075C>T | p.P359S | Missense | 4/4 | - | 1 |
12-49579074-G-C | c.1075C>G | p.P359A | Missense | 4/4 | - | 1 |
12-49579074-G-T | c.1075C>A | p.P359T | Missense | 4/4 | - | 1 |
12-49579075-C-A | c.1074G>T | p.Q358H | Missense | 4/4 | - | 1 |
12-49579075-C-G | c.1074G>C | p.Q358H | Missense | 4/4 | - | 1 |
12-49579076-T-A | c.1073A>T | p.Q358L | Missense | 4/4 | - | 1 |
12-49579076-T-C | c.1073A>G | p.Q358R | Missense | 4/4 | - | 1 |
12-49579076-T-G | c.1073A>C | p.Q358P | Missense | 4/4 | - | 1 |
12-49579077-G-C | c.1072C>G | p.Q358E | Missense | 4/4 | - | 1 |
12-49579077-G-T | c.1072C>A | p.Q358K | Missense | 4/4 | - | 1 |
12-49579077-G-A | c.1072C>T | p.Q358* | Nonsense | 4/4 | - | 1 |
12-49579078-G-C | c.1071C>G | p.Y357* | Nonsense | 4/4 | - | 1 |
12-49579078-G-T | c.1071C>A | p.Y357* | Nonsense | 4/4 | - | 1 |
12-49579079-T-A | c.1070A>T | p.Y357F | Missense | 4/4 | - | 1 |
12-49579079-T-C | c.1070A>G | p.Y357C | Missense | 4/4 | - | 1 |
12-49579079-T-G | c.1070A>C | p.Y357S | Missense | 4/4 | - | 1 |
12-49579080-A-C | c.1069T>G | p.Y357D | Missense | 4/4 | - | 1 |
12-49579080-A-G | c.1069T>C | p.Y357H | Missense | 4/4 | - | 1 |
12-49579080-A-T | c.1069T>A | p.Y357N | Missense | 4/4 | - | 1 |
12-49579081-G-C | c.1068C>G | p.N356K | Missense | 4/4 | - | 1 |
12-49579081-G-T | c.1068C>A | p.N356K | Missense | 4/4 | - | 1 |
12-49579082-T-A | c.1067A>T | p.N356I | Missense | 4/4 | - | 1 |
12-49579082-T-C | c.1067A>G | p.N356S | Missense | 4/4 | - | 1 |
12-49579082-T-G | c.1067A>C | p.N356T | Missense | 4/4 | - | 1 |
12-49579083-T-A | c.1066A>T | p.N356Y | Missense | 4/4 | - | 1 |
12-49579083-T-C | c.1066A>G | p.N356D | Missense | 4/4 | - | 1 |
12-49579083-T-G | c.1066A>C | p.N356H | Missense | 4/4 | - | 1 |
12-49579084-G-C | c.1065C>G | p.I355M | Missense | 4/4 | - | 1 |
12-49579085-A-C | c.1064T>G | p.I355S | Missense | 4/4 | - | 1 |
12-49579085-A-G | c.1064T>C | p.I355T | Missense | 4/4 | - | 1 |
12-49579085-A-T | c.1064T>A | p.I355N | Missense | 4/4 | - | 1 |
12-49579086-T-A | c.1063A>T | p.I355F | Missense | 4/4 | - | 1 |
12-49579086-T-C | c.1063A>G | p.I355V | Missense | 4/4 | - | 1 |
12-49579086-T-G | c.1063A>C | p.I355L | Missense | 4/4 | - | 1 |
12-49579088-C-A | c.1061G>T | p.G354V | Missense | 4/4 | - | 1 |
12-49579088-C-G | c.1061G>C | p.G354A | Missense | 4/4 | - | 1 |
12-49579088-C-T | c.1061G>A | p.G354D | Missense | 4/4 | - | 1 |
12-49579089-C-A | c.1060G>T | p.G354C | Missense | 4/4 | - | 1 |
12-49579089-C-G | c.1060G>C | p.G354R | Missense | 4/4 | - | 1 |
12-49579089-C-T | c.1060G>A | p.G354S | Missense | 4/4 | - | 1 |
12-49579091-A-C | c.1058T>G | p.V353G | Missense | 4/4 | - | 1 |
12-49579091-A-G | c.1058T>C | p.V353A | Missense | 4/4 | - | 1 |
12-49579091-A-T | c.1058T>A | p.V353D | Missense | 4/4 | - | 1 |
12-49579092-C-T | c.1057G>A | p.V353I | Missense | 4/4 | - | 3 |
12-49579092-C-A | c.1057G>T | p.V353F | Missense | 4/4 | - | 1 |
12-49579092-C-G | c.1057G>C | p.V353L | Missense | 4/4 | - | 1 |
12-49579093-C-A | c.1056G>T | p.K352N | Missense | 4/4 | - | 1 |
12-49579093-C-G | c.1056G>C | p.K352N | Missense | 4/4 | - | 1 |
12-49579094-T-A | c.1055A>T | p.K352M | Missense | 4/4 | - | 1 |
12-49579094-T-C | c.1055A>G | p.K352R | Missense | 4/4 | - | 1 |
12-49579094-T-G | c.1055A>C | p.K352T | Missense | 4/4 | - | 1 |
12-49579095-T-C | c.1054A>G | p.K352E | Missense | 4/4 | - | 1 |
12-49579095-T-G | c.1054A>C | p.K352Q | Missense | 4/4 | - | 1 |
12-49579096-G-C | c.1053C>G | p.F351L | Missense | 4/4 | - | 1 |
12-49579096-G-T | c.1053C>A | p.F351L | Missense | 4/4 | - | 1 |
12-49579097-A-C | c.1052T>G | p.F351C | Missense | 4/4 | - | 1 |
12-49579097-A-G | c.1052T>C | p.F351S | Missense | 4/4 | - | 1 |
12-49579097-A-T | c.1052T>A | p.F351Y | Missense | 4/4 | - | 1 |
12-49579098-A-C | c.1051T>G | p.F351V | Missense | 4/4 | - | 1 |
12-49579098-A-G | c.1051T>C | p.F351L | Missense | 4/4 | - | 1 |
12-49579098-A-T | c.1051T>A | p.F351I | Missense | 4/4 | - | 1 |
12-49579100-C-A | c.1049G>T | p.G350V | Missense | 4/4 | - | 1 |
12-49579100-C-G | c.1049G>C | p.G350A | Missense | 4/4 | - | 1 |
12-49579100-C-T | c.1049G>A | p.G350D | Missense | 4/4 | - | 1 |
12-49579101-C-A | c.1048G>T | p.G350C | Missense | 4/4 | - | 1 |
12-49579101-C-G | c.1048G>C | p.G350R | Missense | 4/4 | - | 1 |
12-49579101-C-T | c.1048G>A | p.G350S | Missense | 4/4 | - | 1 |
12-49579102-A-C | c.1047T>G | p.T349= | Synonymous | 4/4 | - | 1 |
12-49579102-AGT-CTC | c.1045_1047delinsGAG | p.T349E | Missense | 4/4 | - | 1 |
12-49579103-G-C | c.1046C>G | p.T349S | Missense | 4/4 | - | 1 |
12-49579103-G-A | c.1046C>T | p.T349I | Missense | 4/4 | - | 1 |
12-49579103-G-T | c.1046C>A | p.T349N | Missense | 4/4 | - | 1 |
12-49579104-T-A | c.1045A>T | p.T349S | Missense | 4/4 | - | 1 |
12-49579104-T-C | c.1045A>G | p.T349A | Missense | 4/4 | - | 1 |
12-49579104-T-G | c.1045A>C | p.T349P | Missense | 4/4 | - | 1 |
12-49579106-G-A | c.1043C>T | p.P348L | Missense | 4/4 | - | 1 |
12-49579106-G-C | c.1043C>G | p.P348R | Missense | 4/4 | - | 1 |
12-49579106-G-T | c.1043C>A | p.P348H | Missense | 4/4 | - | 1 |
12-49579107-G-A | c.1042C>T | p.P348S | Missense | 4/4 | - | 1 |
12-49579107-G-C | c.1042C>G | p.P348A | Missense | 4/4 | - | 1 |
12-49579107-G-T | c.1042C>A | p.P348T | Missense | 4/4 | - | 1 |
12-49579108-G-C | c.1041C>G | p.C347W | Missense | 4/4 | - | 1 |
12-49579109-C-G | c.1040G>C | p.C347S | Missense | 4/4 | - | 1 |
12-49579109-C-A | c.1040G>T | p.C347F | Missense | 4/4 | - | 1 |
12-49579109-C-T | c.1040G>A | p.C347Y | Missense | 4/4 | - | 1 |
12-49579110-A-C | c.1039T>G | p.C347G | Missense | 4/4 | - | 1 |
12-49579110-A-G | c.1039T>C | p.C347R | Missense | 4/4 | - | 1 |
12-49579110-A-T | c.1039T>A | p.C347S | Missense | 4/4 | - | 1 |
12-49579111-C-A | c.1038G>T | p.W346C | Missense | 4/4 | - | 1 |
12-49579111-C-G | c.1038G>C | p.W346C | Missense | 4/4 | - | 1 |
12-49579112-C-A | c.1037G>T | p.W346L | Missense | 4/4 | - | 1 |
12-49579112-C-G | c.1037G>C | p.W346S | Missense | 4/4 | - | 1 |
12-49579113-A-C | c.1036T>G | p.W346G | Missense | 4/4 | - | 1 |
12-49579113-A-G | c.1036T>C | p.W346R | Missense | 4/4 | - | 1 |
12-49579113-A-T | c.1036T>A | p.W346R | Missense | 4/4 | - | 1 |
12-49579114-A-C | c.1035T>G | p.D345E | Missense | 4/4 | - | 1 |
12-49579114-A-T | c.1035T>A | p.D345E | Missense | 4/4 | - | 1 |
12-49579115-T-A | c.1034A>T | p.D345V | Missense | 4/4 | - | 1 |
12-49579115-T-C | c.1034A>G | p.D345G | Missense | 4/4 | - | 1 |
12-49579115-T-G | c.1034A>C | p.D345A | Missense | 4/4 | - | 1 |
12-49579116-C-A | c.1033G>T | p.D345Y | Missense | 4/4 | - | 1 |
12-49579116-C-G | c.1033G>C | p.D345H | Missense | 4/4 | - | 1 |
12-49579116-C-T | c.1033G>A | p.D345N | Missense | 4/4 | - | 1 |
12-49579118-A-C | c.1031T>G | p.V344G | Missense | 4/4 | - | 1 |
12-49579118-A-G | c.1031T>C | p.V344A | Missense | 4/4 | - | 1 |
12-49579118-A-T | c.1031T>A | p.V344E | Missense | 4/4 | - | 1 |
12-49579119-C-A | c.1030G>T | p.V344L | Missense | 4/4 | - | 1 |
12-49579119-C-G | c.1030G>C | p.V344L | Missense | 4/4 | - | 1 |
12-49579119-C-T | c.1030G>A | p.V344M | Missense | 4/4 | - | 1 |
12-49579120-A-C | c.1029T>G | p.F343L | Missense | 4/4 | - | 1 |
12-49579120-A-T | c.1029T>A | p.F343L | Missense | 4/4 | - | 1 |
12-49579121-A-C | c.1028T>G | p.F343C | Missense | 4/4 | - | 1 |
12-49579121-A-G | c.1028T>C | p.F343S | Missense | 4/4 | - | 1 |
12-49579121-A-T | c.1028T>A | p.F343Y | Missense | 4/4 | - | 1 |
12-49579122-A-C | c.1027T>G | p.F343V | Missense | 4/4 | - | 1 |
12-49579122-A-G | c.1027T>C | p.F343L | Missense | 4/4 | - | 1 |
12-49579122-A-T | c.1027T>A | p.F343I | Missense | 4/4 | - | 1 |
12-49579123-C-A | c.1026G>T | p.Q342H | Missense | 4/4 | - | 1 |
12-49579123-C-G | c.1026G>C | p.Q342H | Missense | 4/4 | - | 1 |
12-49579123-C-T | c.1026G>A | p.Q342= | Synonymous | 4/4 | - | 1 |
12-49579124-T-A | c.1025A>T | p.Q342L | Missense | 4/4 | - | 1 |
12-49579124-T-C | c.1025A>G | p.Q342R | Missense | 4/4 | - | 1 |
12-49579124-T-G | c.1025A>C | p.Q342P | Missense | 4/4 | - | 1 |
12-49579125-G-C | c.1024C>G | p.Q342E | Missense | 4/4 | - | 1 |
12-49579125-G-T | c.1024C>A | p.Q342K | Missense | 4/4 | - | 1 |
12-49579126-G-C | c.1023C>G | p.I341M | Missense | 4/4 | - | 1 |
12-49579127-A-C | c.1022T>G | p.I341S | Missense | 4/4 | - | 1 |
12-49579127-A-G | c.1022T>C | p.I341T | Missense | 4/4 | - | 1 |
12-49579127-A-T | c.1022T>A | p.I341N | Missense | 4/4 | - | 1 |
12-49579128-T-A | c.1021A>T | p.I341F | Missense | 4/4 | - | 1 |
12-49579128-T-C | c.1021A>G | p.I341V | Missense | 4/4 | - | 1 |
12-49579128-T-G | c.1021A>C | p.I341L | Missense | 4/4 | - | 1 |
12-49579130-G-C | c.1019C>G | p.T340S | Missense | 4/4 | - | 2 |
12-49579130-G-A | c.1019C>T | p.T340I | Missense | 4/4 | - | 1 |
12-49579130-G-T | c.1019C>A | p.T340N | Missense | 4/4 | - | 1 |
12-49579131-T-A | c.1018A>T | p.T340S | Missense | 4/4 | - | 1 |
12-49579131-T-C | c.1018A>G | p.T340A | Missense | 4/4 | - | 1 |
12-49579131-T-G | c.1018A>C | p.T340P | Missense | 4/4 | - | 1 |
12-49579132-A-G | c.1017T>C | p.R339= | Synonymous | 4/4 | - | 1 |
12-49579133-C-A | c.1016G>T | p.R339L | Missense | 4/4 | - | 2 |
12-49579133-C-G | c.1016G>C | p.R339P | Missense | 4/4 | - | 1 |
12-49579133-C-T | c.1016G>A | p.R339H | Missense | 4/4 | - | 1 |
12-49579134-G-A | c.1015C>T | p.R339C | Missense | 4/4 | - | 1 |
12-49579134-G-C | c.1015C>G | p.R339G | Missense | 4/4 | - | 1 |
12-49579134-G-T | c.1015C>A | p.R339S | Missense | 4/4 | - | 1 |
12-49579135-C-A | c.1014G>T | p.K338N | Missense | 4/4 | - | 1 |
12-49579135-C-G | c.1014G>C | p.K338N | Missense | 4/4 | - | 1 |
12-49579136-T-A | c.1013A>T | p.K338M | Missense | 4/4 | - | 1 |
12-49579136-T-C | c.1013A>G | p.K338R | Missense | 4/4 | - | 1 |
12-49579136-T-G | c.1013A>C | p.K338T | Missense | 4/4 | - | 1 |
12-49579137-T-C | c.1012A>G | p.K338E | Missense | 4/4 | - | 1 |
12-49579137-T-G | c.1012A>C | p.K338Q | Missense | 4/4 | - | 1 |
12-49579139-G-C | c.1010C>G | p.T337S | Missense | 4/4 | - | 1 |
12-49579139-G-A | c.1010C>T | p.T337I | Missense | 4/4 | - | 1 |
12-49579139-G-T | c.1010C>A | p.T337N | Missense | 4/4 | - | 1 |
12-49579140-T-A | c.1009A>T | p.T337S | Missense | 4/4 | - | 1 |
12-49579140-T-C | c.1009A>G | p.T337A | Missense | 4/4 | - | 1 |
12-49579140-T-G | c.1009A>C | p.T337P | Missense | 4/4 | - | 1 |
12-49579141-C-A | c.1008G>T | p.K336N | Missense | 4/4 | - | 1 |
12-49579141-C-G | c.1008G>C | p.K336N | Missense | 4/4 | - | 1 |
12-49579142-T-A | c.1007A>T | p.K336M | Missense | 4/4 | - | 1 |
12-49579142-T-C | c.1007A>G | p.K336R | Missense | 4/4 | - | 2 |
12-49579142-T-G | c.1007A>C | p.K336T | Missense | 4/4 | - | 1 |
12-49579143-T-C | c.1006A>G | p.K336E | Missense | 4/4 | - | 1 |
12-49579143-T-G | c.1006A>C | p.K336Q | Missense | 4/4 | - | 1 |
12-49579144-G-C | c.1005C>G | p.I335M | Missense | 4/4 | - | 1 |
12-49579145-A-C | c.1004T>G | p.I335S | Missense | 4/4 | - | 1 |
12-49579145-A-G | c.1004T>C | p.I335T | Missense | 4/4 | - | 1 |
12-49579145-A-T | c.1004T>A | p.I335N | Missense | 4/4 | - | 1 |
12-49579146-T-A | c.1003A>T | p.I335F | Missense | 4/4 | - | 1 |
12-49579146-T-C | c.1003A>G | p.I335V | Missense | 4/4 | - | 1 |
12-49579146-T-G | c.1003A>C | p.I335L | Missense | 4/4 | - | 1 |
12-49579148-G-C | c.1001C>G | p.T334S | Missense | 4/4 | - | 1 |
12-49579148-G-A | c.1001C>T | p.T334I | Missense | 4/4 | - | 1 |
12-49579148-G-T | c.1001C>A | p.T334N | Missense | 4/4 | - | 1 |
12-49579149-T-A | c.1000A>T | p.T334S | Missense | 4/4 | - | 1 |
12-49579149-T-C | c.1000A>G | p.T334A | Missense | 4/4 | - | 1 |
12-49579149-T-G | c.1000A>C | p.T334P | Missense | 4/4 | - | 1 |
12-49579151-G-A | c.998C>T | p.A333V | Missense | 4/4 | - | 3 |
12-49579151-G-C | c.998C>G | p.A333G | Missense | 4/4 | - | 1 |
12-49579151-G-T | c.998C>A | p.A333D | Missense | 4/4 | - | 1 |
12-49579152-C-A | c.997G>T | p.A333S | Missense | 4/4 | - | 1 |
12-49579152-C-G | c.997G>C | p.A333P | Missense | 4/4 | - | 1 |
12-49579152-C-T | c.997G>A | p.A333T | Missense | 4/4 | - | 1 |
12-49579153-A-C | c.996T>G | p.I332M | Missense | 4/4 | - | 1 |
12-49579154-A-C | c.995T>G | p.I332S | Missense | 4/4 | - | 1 |
12-49579154-A-G | c.995T>C | p.I332T | Missense | 4/4 | - | 1 |
12-49579154-A-T | c.995T>A | p.I332N | Missense | 4/4 | - | 1 |
12-49579155-T-A | c.994A>T | p.I332F | Missense | 4/4 | - | 1 |
12-49579155-T-C | c.994A>G | p.I332V | Missense | 4/4 | - | 1 |
12-49579155-T-G | c.994A>C | p.I332L | Missense | 4/4 | - | 1 |
12-49579157-G-A | c.992C>T | p.A331V | Missense | 4/4 | - | 1 |
12-49579157-G-C | c.992C>G | p.A331G | Missense | 4/4 | - | 1 |
12-49579157-G-T | c.992C>A | p.A331D | Missense | 4/4 | - | 1 |
12-49579158-C-A | c.991G>T | p.A331S | Missense | 4/4 | - | 1 |
12-49579158-C-G | c.991G>C | p.A331P | Missense | 4/4 | - | 1 |
12-49579158-C-T | c.991G>A | p.A331T | Missense | 4/4 | - | 1 |
12-49579160-G-A | c.989C>T | p.A330V | Missense | 4/4 | - | 1 |
12-49579160-G-C | c.989C>G | p.A330G | Missense | 4/4 | - | 1 |
12-49579160-G-T | c.989C>A | p.A330D | Missense | 4/4 | - | 1 |
12-49579161-C-A | c.988G>T | p.A330S | Missense | 4/4 | - | 1 |
12-49579161-C-G | c.988G>C | p.A330P | Missense | 4/4 | - | 1 |
12-49579161-C-T | c.988G>A | p.A330T | Missense | 4/4 | - | 1 |
12-49579162-A-C | c.987T>G | p.N329K | Missense | 4/4 | - | 1 |
12-49579162-A-T | c.987T>A | p.N329K | Missense | 4/4 | - | 1 |
12-49579163-T-C | c.986A>G | p.N329S | Missense | 4/4 | - | 7 |
12-49579163-T-A | c.986A>T | p.N329I | Missense | 4/4 | - | 1 |
12-49579163-T-G | c.986A>C | p.N329T | Missense | 4/4 | - | 1 |
12-49579164-T-A | c.985A>T | p.N329Y | Missense | 4/4 | - | 1 |
12-49579164-T-C | c.985A>G | p.N329D | Missense | 4/4 | - | 1 |
12-49579164-T-G | c.985A>C | p.N329H | Missense | 4/4 | - | 1 |
12-49579165-GAC-CAT | c.982_984delinsATG | p.V328M | Missense | 4/4 | - | 1 |
12-49579165-GA-CT | c.983_984delinsAG | p.V328E | Missense | 4/4 | - | 1 |
12-49579166-A-C | c.983T>G | p.V328G | Missense | 4/4 | - | 1 |
12-49579166-A-G | c.983T>C | p.V328A | Missense | 4/4 | - | 1 |
12-49579166-A-T | c.983T>A | p.V328D | Missense | 4/4 | - | 1 |
12-49579167-C-A | c.982G>T | p.V328F | Missense | 4/4 | - | 1 |
12-49579167-C-G | c.982G>C | p.V328L | Missense | 4/4 | - | 1 |
12-49579167-C-T | c.982G>A | p.V328I | Missense | 4/4 | - | 1 |
12-49579168-A-C | c.981T>G | p.D327E | Missense | 4/4 | - | 1 |
12-49579168-A-T | c.981T>A | p.D327E | Missense | 4/4 | - | 1 |
12-49579169-T-A | c.980A>T | p.D327V | Missense | 4/4 | - | 1 |
12-49579169-T-C | c.980A>G | p.D327G | Missense | 4/4 | - | 1 |
12-49579169-T-G | c.980A>C | p.D327A | Missense | 4/4 | - | 1 |
12-49579170-C-A | c.979G>T | p.D327Y | Missense | 4/4 | - | 1 |
12-49579170-C-G | c.979G>C | p.D327H | Missense | 4/4 | - | 1 |
12-49579170-C-T | c.979G>A | p.D327N | Missense | 4/4 | - | 1 |
12-49579171-T-A | c.978A>T | p.K326N | Missense | 4/4 | - | 2 |
12-49579171-T-G | c.978A>C | p.K326N | Missense | 4/4 | - | 4 |
12-49579172-T-A | c.977A>T | p.K326I | Missense | 4/4 | - | 1 |
12-49579172-T-C | c.977A>G | p.K326R | Missense | 4/4 | - | 1 |
12-49579172-T-G | c.977A>C | p.K326T | Missense | 4/4 | - | 1 |
12-49579173-T-C | c.976A>G | p.K326E | Missense | 4/4 | - | 1 |
12-49579173-T-G | c.976A>C | p.K326Q | Missense | 4/4 | - | 1 |
12-49579173-T-A | c.976A>T | p.K326* | Nonsense | 4/4 | - | 1 |
12-49579175-G-A | c.974C>T | p.P325L | Missense | 4/4 | - | 1 |
12-49579175-G-C | c.974C>G | p.P325R | Missense | 4/4 | - | 1 |
12-49579175-G-T | c.974C>A | p.P325H | Missense | 4/4 | - | 1 |
12-49579176-G-A | c.973C>T | p.P325S | Missense | 4/4 | - | 1 |
12-49579176-G-C | c.973C>G | p.P325A | Missense | 4/4 | - | 1 |
12-49579176-G-T | c.973C>A | p.P325T | Missense | 4/4 | - | 1 |
12-49579178-A-C | c.971T>G | p.V324G | Missense | 4/4 | - | 1 |
12-49579178-A-G | c.971T>C | p.V324A | Missense | 4/4 | - | 1 |
12-49579178-A-T | c.971T>A | p.V324D | Missense | 4/4 | - | 1 |
12-49579179-C-A | c.970G>T | p.V324F | Missense | 4/4 | - | 1 |
12-49579179-C-G | c.970G>C | p.V324L | Missense | 4/4 | - | 1 |
12-49579179-C-T | c.970G>A | p.V324I | Missense | 4/4 | - | 1 |
12-49579180-C-A | c.969G>T | p.V323= | Synonymous | 4/4 | - | 1 |
12-49579180-C-G | c.969G>C | p.V323= | Synonymous | 4/4 | - | 1 |
12-49579181-A-C | c.968T>G | p.V323G | Missense | 4/4 | - | 1 |
12-49579181-A-G | c.968T>C | p.V323A | Missense | 4/4 | - | 1 |
12-49579181-A-T | c.968T>A | p.V323E | Missense | 4/4 | - | 1 |
12-49579182-C-T | c.967G>A | p.V323M | Missense | 4/4 | - | 1 |
12-49579182-C-A | c.967G>T | p.V323L | Missense | 4/4 | - | 1 |
12-49579182-C-G | c.967G>C | p.V323L | Missense | 4/4 | - | 1 |
12-49579183-G-C | c.966C>G | p.D322E | Missense | 4/4 | - | 1 |
12-49579183-G-T | c.966C>A | p.D322E | Missense | 4/4 | - | 1 |
12-49579184-T-A | c.965A>T | p.D322V | Missense | 4/4 | - | 1 |
12-49579184-T-C | c.965A>G | p.D322G | Missense | 4/4 | - | 1 |
12-49579184-T-G | c.965A>C | p.D322A | Missense | 4/4 | - | 1 |
12-49579185-C-A | c.964G>T | p.D322Y | Missense | 4/4 | - | 1 |
12-49579185-C-G | c.964G>C | p.D322H | Missense | 4/4 | - | 1 |
12-49579185-C-T | c.964G>A | p.D322N | Missense | 4/4 | - | 1 |
12-49579187-C-A | c.962G>T | p.G321V | Missense | 4/4 | - | 1 |
12-49579187-C-G | c.962G>C | p.G321A | Missense | 4/4 | - | 1 |
12-49579187-C-T | c.962G>A | p.G321D | Missense | 4/4 | - | 1 |
12-49579188-C-A | c.961G>T | p.G321C | Missense | 4/4 | - | 1 |
12-49579188-C-G | c.961G>C | p.G321R | Missense | 4/4 | - | 1 |
12-49579188-C-T | c.961G>A | p.G321S | Missense | 4/4 | - | 1 |
12-49579190-C-A | c.959G>T | p.R320L | Missense | 4/4 | - | 1 |
12-49579190-C-G | c.959G>C | p.R320P | Missense | 4/4 | - | 1 |
12-49579190-C-T | c.959G>A | p.R320H | Missense | 4/4 | - | 3 |
12-49579191-G-A | c.958C>T | p.R320C | Missense | 4/4 | - | 2 |
12-49579191-G-C | c.958C>G | p.R320G | Missense | 4/4 | - | 1 |
12-49579191-G-T | c.958C>A | p.R320S | Missense | 4/4 | - | 1 |
12-49579193-T-A | c.956A>T | p.Y319F | Missense | 4/4 | - | 1 |
12-49579193-T-C | c.956A>G | p.Y319C | Missense | 4/4 | - | 1 |
12-49579193-T-G | c.956A>C | p.Y319S | Missense | 4/4 | - | 1 |
12-49579194-A-C | c.955T>G | p.Y319D | Missense | 4/4 | - | 1 |
12-49579194-A-G | c.955T>C | p.Y319H | Missense | 4/4 | - | 1 |
12-49579194-A-T | c.955T>A | p.Y319N | Missense | 4/4 | - | 1 |
12-49579195-C-A | c.954G>T | p.L318F | Missense | 4/4 | - | 1 |
12-49579195-C-G | c.954G>C | p.L318F | Missense | 4/4 | - | 1 |
12-49579196-A-C | c.953T>G | p.L318W | Missense | 4/4 | - | 1 |
12-49579196-A-G | c.953T>C | p.L318S | Missense | 4/4 | - | 1 |
12-49579196-A-T | c.953T>A | p.L318* | Nonsense | 4/4 | - | 1 |
12-49579197-A-C | c.952T>G | p.L318V | Missense | 4/4 | - | 1 |
12-49579197-A-T | c.952T>A | p.L318M | Missense | 4/4 | - | 1 |
12-49579198-C-A | c.951G>T | p.L317= | Synonymous | 4/4 | - | 1 |
12-49579198-C-G | c.951G>C | p.L317= | Synonymous | 4/4 | - | 1 |
12-49579199-A-C | c.950T>G | p.L317R | Missense | 4/4 | - | 1 |
12-49579199-A-G | c.950T>C | p.L317P | Missense | 4/4 | - | 1 |
12-49579199-A-T | c.950T>A | p.L317Q | Missense | 4/4 | - | 1 |
12-49579200-G-C | c.949C>G | p.L317V | Missense | 4/4 | - | 1 |
12-49579200-G-T | c.949C>A | p.L317M | Missense | 4/4 | - | 1 |
12-49579201-G-C | c.948C>G | p.C316W | Missense | 4/4 | - | 1 |
12-49579201-G-T | c.948C>A | p.C316* | Nonsense | 4/4 | - | 1 |
12-49579202-C-G | c.947G>C | p.C316S | Missense | 4/4 | - | 1 |
12-49579202-C-A | c.947G>T | p.C316F | Missense | 4/4 | - | 1 |
12-49579202-C-T | c.947G>A | p.C316Y | Missense | 4/4 | - | 1 |
12-49579203-A-C | c.946T>G | p.C316G | Missense | 4/4 | - | 1 |
12-49579203-A-G | c.946T>C | p.C316R | Missense | 4/4 | - | 1 |
12-49579203-A-T | c.946T>A | p.C316S | Missense | 4/4 | - | 1 |
12-49579204-G-C | c.945C>G | p.C315W | Missense | 4/4 | - | 1 |
12-49579205-C-G | c.944G>C | p.C315S | Missense | 4/4 | - | 1 |
12-49579205-C-A | c.944G>T | p.C315F | Missense | 4/4 | - | 1 |
12-49579205-C-T | c.944G>A | p.C315Y | Missense | 4/4 | - | 1 |
12-49579206-A-C | c.943T>G | p.C315G | Missense | 4/4 | - | 1 |
12-49579206-A-G | c.943T>C | p.C315R | Missense | 4/4 | - | 1 |
12-49579206-A-T | c.943T>A | p.C315S | Missense | 4/4 | - | 1 |
12-49579208-G-A | c.941C>T | p.A314V | Missense | 4/4 | - | 1 |
12-49579208-G-C | c.941C>G | p.A314G | Missense | 4/4 | - | 1 |
12-49579208-G-T | c.941C>A | p.A314D | Missense | 4/4 | - | 1 |
12-49579209-C-A | c.940G>T | p.A314S | Missense | 4/4 | - | 1 |
12-49579209-C-G | c.940G>C | p.A314P | Missense | 4/4 | - | 1 |
12-49579209-C-T | c.940G>A | p.A314T | Missense | 4/4 | - | 1 |
12-49579210-C-A | c.939G>T | p.M313I | Missense | 4/4 | - | 1 |
12-49579210-C-G | c.939G>C | p.M313I | Missense | 4/4 | - | 1 |
12-49579210-C-T | c.939G>A | p.M313I | Missense | 4/4 | - | 1 |
12-49579211-A-C | c.938T>G | p.M313R | Missense | 4/4 | - | 1 |
12-49579211-A-G | c.938T>C | p.M313T | Missense | 4/4 | - | 1 |
12-49579211-A-T | c.938T>A | p.M313K | Missense | 4/4 | - | 1 |
12-49579212-T-A | c.937A>T | p.M313L | Missense | 4/4 | - | 1 |
12-49579212-T-G | c.937A>C | p.M313L | Missense | 4/4 | - | 1 |
12-49579212-T-C | c.937A>G | p.M313V | Missense | 4/4 | - | 1 |
12-49579213-G-C | c.936C>G | p.Y312* | Nonsense | 4/4 | - | 1 |
12-49579214-T-A | c.935A>T | p.Y312F | Missense | 4/4 | - | 1 |
12-49579214-T-C | c.935A>G | p.Y312C | Missense | 4/4 | - | 1 |
12-49579214-T-G | c.935A>C | p.Y312S | Missense | 4/4 | - | 1 |
12-49579215-A-C | c.934T>G | p.Y312D | Missense | 4/4 | - | 1 |
12-49579215-A-G | c.934T>C | p.Y312H | Missense | 4/4 | - | 1 |
12-49579215-A-T | c.934T>A | p.Y312N | Missense | 4/4 | - | 1 |
12-49579216-T-A | c.933A>T | p.K311N | Missense | 4/4 | - | 1 |
12-49579216-T-G | c.933A>C | p.K311N | Missense | 4/4 | - | 1 |
12-49579217-T-A | c.932A>T | p.K311I | Missense | 4/4 | - | 1 |
12-49579217-T-C | c.932A>G | p.K311R | Missense | 4/4 | - | 1 |
12-49579217-T-G | c.932A>C | p.K311T | Missense | 4/4 | - | 1 |
12-49579218-T-C | c.931A>G | p.K311E | Missense | 4/4 | - | 1 |
12-49579218-T-G | c.931A>C | p.K311Q | Missense | 4/4 | - | 1 |
12-49579219-A-C | c.930T>G | p.G310= | Synonymous | 4/4 | - | 1 |
12-49579219-A-T | c.930T>A | p.G310= | Synonymous | 4/4 | - | 1 |
12-49579220-C-A | c.929G>T | p.G310V | Missense | 4/4 | - | 1 |
12-49579220-C-G | c.929G>C | p.G310A | Missense | 4/4 | - | 1 |
12-49579220-C-T | c.929G>A | p.G310D | Missense | 4/4 | - | 1 |
12-49579221-C-A | c.928G>T | p.G310C | Missense | 4/4 | - | 1 |
12-49579221-C-G | c.928G>C | p.G310R | Missense | 4/4 | - | 1 |
12-49579221-C-T | c.928G>A | p.G310S | Missense | 4/4 | - | 1 |
12-49579222-A-C | c.927T>G | p.H309Q | Missense | 4/4 | - | 1 |
12-49579222-A-T | c.927T>A | p.H309Q | Missense | 4/4 | - | 1 |
12-49579223-T-A | c.926A>T | p.H309L | Missense | 4/4 | - | 1 |
12-49579223-T-C | c.926A>G | p.H309R | Missense | 4/4 | - | 1 |
12-49579223-T-G | c.926A>C | p.H309P | Missense | 4/4 | - | 1 |
12-49579224-G-A | c.925C>T | p.H309Y | Missense | 4/4 | - | 1 |
12-49579224-G-C | c.925C>G | p.H309D | Missense | 4/4 | - | 1 |
12-49579224-G-T | c.925C>A | p.H309N | Missense | 4/4 | - | 1 |
12-49579226-C-A | c.923G>T | p.R308L | Missense | 4/4 | - | 1 |
12-49579226-C-G | c.923G>C | p.R308P | Missense | 4/4 | - | 1 |
12-49579226-C-T | c.923G>A | p.R308H | Missense | 4/4 | - | 1 |
12-49579227-G-A | c.922C>T | p.R308C | Missense | 4/4 | - | 2 |
12-49579227-G-C | c.922C>G | p.R308G | Missense | 4/4 | - | 1 |
12-49579227-G-T | c.922C>A | p.R308S | Missense | 4/4 | - | 1 |
12-49579229-G-A | c.920C>T | p.P307L | Missense | 4/4 | - | 1 |
12-49579229-G-C | c.920C>G | p.P307R | Missense | 4/4 | - | 1 |
12-49579229-G-T | c.920C>A | p.P307H | Missense | 4/4 | - | 1 |
12-49579230-G-A | c.919C>T | p.P307S | Missense | 4/4 | - | 2 |
12-49579230-G-C | c.919C>G | p.P307A | Missense | 4/4 | - | 1 |
12-49579230-G-T | c.919C>A | p.P307T | Missense | 4/4 | - | 1 |
12-49579231-G-C | c.918C>G | p.D306E | Missense | 4/4 | - | 1 |
12-49579231-G-T | c.918C>A | p.D306E | Missense | 4/4 | - | 1 |
12-49579232-T-A | c.917A>T | p.D306V | Missense | 4/4 | - | 1 |
12-49579232-T-C | c.917A>G | p.D306G | Missense | 4/4 | - | 1 |
12-49579232-T-G | c.917A>C | p.D306A | Missense | 4/4 | - | 1 |
12-49579233-C-A | c.916G>T | p.D306Y | Missense | 4/4 | - | 1 |
12-49579233-C-G | c.916G>C | p.D306H | Missense | 4/4 | - | 1 |
12-49579233-C-T | c.916G>A | p.D306N | Missense | 4/4 | - | 1 |
12-49579234-A-C | c.915T>G | p.C305W | Missense | 4/4 | - | 1 |
12-49579235-C-G | c.914G>C | p.C305S | Missense | 4/4 | - | 1 |
12-49579235-C-A | c.914G>T | p.C305F | Missense | 4/4 | - | 1 |
12-49579235-C-T | c.914G>A | p.C305Y | Missense | 4/4 | - | 1 |
12-49579236-A-C | c.913T>G | p.C305G | Missense | 4/4 | - | 1 |
12-49579236-A-G | c.913T>C | p.C305R | Missense | 4/4 | - | 1 |
12-49579236-A-T | c.913T>A | p.C305S | Missense | 4/4 | - | 1 |
12-49579237-T-A | c.912A>T | p.K304N | Missense | 4/4 | - | 1 |
12-49579237-T-G | c.912A>C | p.K304N | Missense | 4/4 | - | 1 |
12-49579238-T-A | c.911A>T | p.K304I | Missense | 4/4 | - | 1 |
12-49579238-T-C | c.911A>G | p.K304R | Missense | 4/4 | - | 1 |
12-49579238-T-G | c.911A>C | p.K304T | Missense | 4/4 | - | 1 |
12-49579239-T-C | c.910A>G | p.K304E | Missense | 4/4 | - | 2 |
12-49579239-T-G | c.910A>C | p.K304Q | Missense | 4/4 | - | 1 |
12-49579240-C-A | c.909G>T | p.V303= | Synonymous | 4/4 | - | 1 |
12-49579240-C-G | c.909G>C | p.V303= | Synonymous | 4/4 | - | 1 |
12-49579241-A-C | c.908T>G | p.V303G | Missense | 4/4 | - | 4 |
12-49579241-A-G | c.908T>C | p.V303A | Missense | 4/4 | - | 1 |
12-49579241-A-T | c.908T>A | p.V303E | Missense | 4/4 | - | 1 |
12-49579242-C-A | c.907G>T | p.V303L | Missense | 4/4 | - | 1 |
12-49579242-C-G | c.907G>C | p.V303L | Missense | 4/4 | - | 1 |
12-49579242-C-T | c.907G>A | p.V303M | Missense | 4/4 | - | 1 |
12-49579243-C-A | c.906G>T | p.M302I | Missense | 4/4 | - | 1 |
12-49579243-C-G | c.906G>C | p.M302I | Missense | 4/4 | - | 1 |
12-49579243-C-T | c.906G>A | p.M302I | Missense | 4/4 | - | 1 |
12-49579244-A-C | c.905T>G | p.M302R | Missense | 4/4 | - | 1 |
12-49579244-A-G | c.905T>C | p.M302T | Missense | 4/4 | - | 1 |
12-49579244-A-T | c.905T>A | p.M302K | Missense | 4/4 | - | 1 |
12-49579245-T-A | c.904A>T | p.M302L | Missense | 4/4 | - | 1 |
12-49579245-T-G | c.904A>C | p.M302L | Missense | 4/4 | - | 1 |
12-49579245-T-C | c.904A>G | p.M302V | Missense | 4/4 | - | 1 |
12-49579246-C-A | c.903G>T | p.Q301H | Missense | 4/4 | - | 1 |
12-49579246-C-G | c.903G>C | p.Q301H | Missense | 4/4 | - | 1 |
12-49579247-T-A | c.902A>T | p.Q301L | Missense | 4/4 | - | 1 |
12-49579247-T-C | c.902A>G | p.Q301R | Missense | 4/4 | - | 1 |
12-49579247-T-G | c.902A>C | p.Q301P | Missense | 4/4 | - | 1 |
12-49579248-G-C | c.901C>G | p.Q301E | Missense | 4/4 | - | 1 |
12-49579248-G-T | c.901C>A | p.Q301K | Missense | 4/4 | - | 1 |
12-49579249-G-C | c.900C>G | p.N300K | Missense | 4/4 | - | 1 |
12-49579249-G-T | c.900C>A | p.N300K | Missense | 4/4 | - | 1 |
12-49579250-T-A | c.899A>T | p.N300I | Missense | 4/4 | - | 1 |
12-49579250-T-C | c.899A>G | p.N300S | Missense | 4/4 | - | 1 |
12-49579250-T-G | c.899A>C | p.N300T | Missense | 4/4 | - | 1 |
12-49579251-T-A | c.898A>T | p.N300Y | Missense | 4/4 | - | 1 |
12-49579251-T-C | c.898A>G | p.N300D | Missense | 4/4 | - | 1 |
12-49579251-T-G | c.898A>C | p.N300H | Missense | 4/4 | - | 1 |
12-49579253-G-A | c.896C>T | p.A299V | Missense | 4/4 | - | 1 |
12-49579253-G-C | c.896C>G | p.A299G | Missense | 4/4 | - | 1 |
12-49579253-G-T | c.896C>A | p.A299D | Missense | 4/4 | - | 1 |
12-49579254-C-A | c.895G>T | p.A299S | Missense | 4/4 | - | 1 |
12-49579254-C-G | c.895G>C | p.A299P | Missense | 4/4 | - | 1 |
12-49579254-C-T | c.895G>A | p.A299T | Missense | 4/4 | - | 1 |
12-49579256-G-A | c.893C>T | p.P298L | Missense | 4/4 | - | 1 |
12-49579256-G-C | c.893C>G | p.P298R | Missense | 4/4 | - | 1 |
12-49579256-G-T | c.893C>A | p.P298Q | Missense | 4/4 | - | 1 |
12-49579257-G-A | c.892C>T | p.P298S | Missense | 4/4 | - | 1 |
12-49579257-G-C | c.892C>G | p.P298A | Missense | 4/4 | - | 1 |
12-49579257-G-T | c.892C>A | p.P298T | Missense | 4/4 | - | 1 |
12-49579258-C-A | c.891G>T | p.E297D | Missense | 4/4 | - | 1 |
12-49579258-C-G | c.891G>C | p.E297D | Missense | 4/4 | - | 1 |
12-49579259-T-A | c.890A>T | p.E297V | Missense | 4/4 | - | 1 |
12-49579259-T-C | c.890A>G | p.E297G | Missense | 4/4 | - | 1 |
12-49579259-T-G | c.890A>C | p.E297A | Missense | 4/4 | - | 1 |
12-49579260-C-G | c.889G>C | p.E297Q | Missense | 4/4 | - | 1 |
12-49579260-C-T | c.889G>A | p.E297K | Missense | 4/4 | - | 1 |
12-49579261-A-C | c.888T>G | p.F296L | Missense | 4/4 | - | 1 |
12-49579261-A-T | c.888T>A | p.F296L | Missense | 4/4 | - | 1 |
12-49579262-A-C | c.887T>G | p.F296C | Missense | 4/4 | - | 1 |
12-49579262-A-G | c.887T>C | p.F296S | Missense | 4/4 | - | 1 |
12-49579262-A-T | c.887T>A | p.F296Y | Missense | 4/4 | - | 1 |
12-49579263-A-C | c.886T>G | p.F296V | Missense | 4/4 | - | 1 |
12-49579263-A-G | c.886T>C | p.F296L | Missense | 4/4 | - | 1 |
12-49579263-A-T | c.886T>A | p.F296I | Missense | 4/4 | - | 1 |
12-49579264-G-C | c.885C>G | p.C295W | Missense | 4/4 | - | 1 |
12-49579265-C-G | c.884G>C | p.C295S | Missense | 4/4 | - | 1 |
12-49579265-C-A | c.884G>T | p.C295F | Missense | 4/4 | - | 1 |
12-49579265-C-T | c.884G>A | p.C295Y | Missense | 4/4 | - | 1 |
12-49579266-A-C | c.883T>G | p.C295G | Missense | 4/4 | - | 1 |
12-49579266-A-G | c.883T>C | p.C295R | Missense | 4/4 | - | 1 |
12-49579266-A-T | c.883T>A | p.C295S | Missense | 4/4 | - | 1 |
12-49579267-A-C | c.882T>G | p.A294= | Synonymous | 4/4 | - | 1 |
12-49579267-A-T | c.882T>A | p.A294= | Synonymous | 4/4 | - | 1 |
12-49579268-G-A | c.881C>T | p.A294V | Missense | 4/4 | - | 1 |
12-49579268-G-C | c.881C>G | p.A294G | Missense | 4/4 | - | 1 |
12-49579268-G-T | c.881C>A | p.A294D | Missense | 4/4 | - | 1 |
12-49579269-C-A | c.880G>T | p.A294S | Missense | 4/4 | - | 1 |
12-49579269-C-G | c.880G>C | p.A294P | Missense | 4/4 | - | 1 |
12-49579269-C-T | c.880G>A | p.A294T | Missense | 4/4 | - | 1 |
12-49579270-A-C | c.879T>G | p.N293K | Missense | 4/4 | - | 1 |
12-49579270-A-T | c.879T>A | p.N293K | Missense | 4/4 | - | 1 |
12-49579271-T-A | c.878A>T | p.N293I | Missense | 4/4 | - | 1 |
12-49579271-T-C | c.878A>G | p.N293S | Missense | 4/4 | - | 1 |
12-49579271-T-G | c.878A>C | p.N293T | Missense | 4/4 | - | 1 |
12-49579272-T-A | c.877A>T | p.N293Y | Missense | 4/4 | - | 1 |
12-49579272-T-C | c.877A>G | p.N293D | Missense | 4/4 | - | 1 |
12-49579272-T-G | c.877A>C | p.N293H | Missense | 4/4 | - | 1 |
12-49579274-G-C | c.875C>G | p.T292S | Missense | 4/4 | - | 1 |
12-49579274-G-A | c.875C>T | p.T292I | Missense | 4/4 | - | 1 |
12-49579274-G-T | c.875C>A | p.T292N | Missense | 4/4 | - | 1 |
12-49579275-T-A | c.874A>T | p.T292S | Missense | 4/4 | - | 1 |
12-49579275-T-C | c.874A>G | p.T292A | Missense | 4/4 | - | 1 |
12-49579275-T-G | c.874A>C | p.T292P | Missense | 4/4 | - | 1 |
12-49579276-G-C | c.873C>G | p.I291M | Missense | 4/4 | - | 1 |
12-49579277-A-C | c.872T>G | p.I291S | Missense | 4/4 | - | 1 |
12-49579277-A-G | c.872T>C | p.I291T | Missense | 4/4 | - | 1 |
12-49579277-A-T | c.872T>A | p.I291N | Missense | 4/4 | - | 1 |
12-49579278-T-A | c.871A>T | p.I291F | Missense | 4/4 | - | 1 |
12-49579278-T-C | c.871A>G | p.I291V | Missense | 4/4 | - | 1 |
12-49579278-T-G | c.871A>C | p.I291L | Missense | 4/4 | - | 1 |
12-49579279-C-A | c.870G>T | p.E290D | Missense | 4/4 | - | 1 |
12-49579279-C-G | c.870G>C | p.E290D | Missense | 4/4 | - | 1 |
12-49579280-T-A | c.869A>T | p.E290V | Missense | 4/4 | - | 1 |
12-49579280-T-C | c.869A>G | p.E290G | Missense | 4/4 | - | 1 |
12-49579280-T-G | c.869A>C | p.E290A | Missense | 4/4 | - | 1 |
12-49579281-C-G | c.868G>C | p.E290Q | Missense | 4/4 | - | 1 |
12-49579281-C-T | c.868G>A | p.E290K | Missense | 4/4 | - | 1 |
12-49579283-G-A | c.866C>T | p.A289V | Missense | 4/4 | - | 1 |
12-49579283-G-C | c.866C>G | p.A289G | Missense | 4/4 | - | 1 |
12-49579283-G-T | c.866C>A | p.A289E | Missense | 4/4 | - | 1 |
12-49579284-C-A | c.865G>T | p.A289S | Missense | 4/4 | - | 1 |
12-49579284-C-G | c.865G>C | p.A289P | Missense | 4/4 | - | 1 |
12-49579284-C-T | c.865G>A | p.A289T | Missense | 4/4 | - | 1 |
12-49579285-TAC-CAT | c.862_864delinsATG | p.V288M | Missense | 4/4 | - | 1 |
12-49579286-A-C | c.863T>G | p.V288G | Missense | 4/4 | - | 1 |
12-49579286-A-G | c.863T>C | p.V288A | Missense | 4/4 | - | 1 |
12-49579286-A-T | c.863T>A | p.V288E | Missense | 4/4 | - | 1 |
12-49579287-C-A | c.862G>T | p.V288L | Missense | 4/4 | - | 1 |
12-49579287-C-G | c.862G>C | p.V288L | Missense | 4/4 | - | 1 |
12-49579287-C-T | c.862G>A | p.V288I | Missense | 4/4 | - | 1 |
12-49579289-G-A | c.860C>T | p.S287F | Missense | 4/4 | - | 1 |
12-49579289-G-C | c.860C>G | p.S287C | Missense | 4/4 | - | 1 |
12-49579289-G-T | c.860C>A | p.S287Y | Missense | 4/4 | - | 1 |
12-49579290-A-C | c.859T>G | p.S287A | Missense | 4/4 | - | 1 |
12-49579290-A-G | c.859T>C | p.S287P | Missense | 4/4 | - | 1 |
12-49579290-A-T | c.859T>A | p.S287T | Missense | 4/4 | - | 2 |
12-49579292-A-C | c.857T>G | p.L286R | Missense | 4/4 | - | 1 |
12-49579292-A-G | c.857T>C | p.L286P | Missense | 4/4 | - | 1 |
12-49579292-A-T | c.857T>A | p.L286H | Missense | 4/4 | - | 1 |
12-49579293-G-A | c.856C>T | p.L286F | Missense | 4/4 | - | 6 |
12-49579293-G-C | c.856C>G | p.L286V | Missense | 4/4 | - | 1 |
12-49579293-G-T | c.856C>A | p.L286I | Missense | 4/4 | - | 1 |
12-49579294-C-A | c.855G>T | p.Q285H | Missense | 4/4 | - | 1 |
12-49579294-C-G | c.855G>C | p.Q285H | Missense | 4/4 | - | 1 |
12-49579295-T-A | c.854A>T | p.Q285L | Missense | 4/4 | - | 1 |
12-49579295-T-C | c.854A>G | p.Q285R | Missense | 4/4 | - | 1 |
12-49579295-T-G | c.854A>C | p.Q285P | Missense | 4/4 | - | 1 |
12-49579296-G-C | c.853C>G | p.Q285E | Missense | 4/4 | - | 1 |
12-49579296-G-T | c.853C>A | p.Q285K | Missense | 4/4 | - | 1 |
12-49579296-G-A | c.853C>T | p.Q285* | Nonsense | 4/4 | - | 1 |
12-49579297-T-A | c.852A>T | p.E284D | Missense | 4/4 | - | 1 |
12-49579297-T-G | c.852A>C | p.E284D | Missense | 4/4 | - | 1 |
12-49579298-T-A | c.851A>T | p.E284V | Missense | 4/4 | - | 1 |
12-49579298-T-C | c.851A>G | p.E284G | Missense | 4/4 | - | 1 |
12-49579298-T-G | c.851A>C | p.E284A | Missense | 4/4 | - | 1 |
12-49579299-C-G | c.850G>C | p.E284Q | Missense | 4/4 | - | 1 |
12-49579299-C-T | c.850G>A | p.E284K | Missense | 4/4 | - | 1 |
12-49579300-A-C | c.849T>G | p.H283Q | Missense | 4/4 | - | 1 |
12-49579300-A-T | c.849T>A | p.H283Q | Missense | 4/4 | - | 1 |
12-49579301-T-A | c.848A>T | p.H283L | Missense | 4/4 | - | 1 |
12-49579301-T-C | c.848A>G | p.H283R | Missense | 4/4 | - | 1 |
12-49579301-T-G | c.848A>C | p.H283P | Missense | 4/4 | - | 1 |
12-49579302-G-A | c.847C>T | p.H283Y | Missense | 4/4 | - | 1 |
12-49579302-G-C | c.847C>G | p.H283D | Missense | 4/4 | - | 1 |
12-49579302-G-T | c.847C>A | p.H283N | Missense | 4/4 | - | 1 |
12-49579304-T-A | c.845A>T | p.Y282F | Missense | 4/4 | - | 1 |
12-49579304-T-C | c.845A>G | p.Y282C | Missense | 4/4 | - | 1 |
12-49579304-T-G | c.845A>C | p.Y282S | Missense | 4/4 | - | 1 |
12-49579305-A-C | c.844T>G | p.Y282D | Missense | 4/4 | - | 1 |
12-49579305-A-G | c.844T>C | p.Y282H | Missense | 4/4 | - | 1 |
12-49579305-A-T | c.844T>A | p.Y282N | Missense | 4/4 | - | 1 |
12-49579306-G-C | c.843C>G | p.A281= | Synonymous | 4/4 | - | 1 |
12-49579307-G-A | c.842C>T | p.A281V | Missense | 4/4 | - | 1 |
12-49579307-G-C | c.842C>G | p.A281G | Missense | 4/4 | - | 1 |
12-49579307-G-T | c.842C>A | p.A281D | Missense | 4/4 | - | 1 |
12-49579308-C-A | c.841G>T | p.A281S | Missense | 4/4 | - | 1 |
12-49579308-C-G | c.841G>C | p.A281P | Missense | 4/4 | - | 1 |
12-49579308-C-T | c.841G>A | p.A281T | Missense | 4/4 | - | 1 |
12-49579309-T-A | c.840A>T | p.K280N | Missense | 4/4 | - | 1 |
12-49579309-T-G | c.840A>C | p.K280N | Missense | 4/4 | - | 1 |
12-49579310-T-A | c.839A>T | p.K280I | Missense | 4/4 | - | 1 |
12-49579310-T-C | c.839A>G | p.K280R | Missense | 4/4 | - | 1 |
12-49579310-T-G | c.839A>C | p.K280T | Missense | 4/4 | - | 1 |
12-49579311-T-C | c.838A>G | p.K280E | Missense | 4/4 | - | 1 |
12-49579311-T-G | c.838A>C | p.K280Q | Missense | 4/4 | - | 1 |
12-49579312-C-A | c.837G>T | p.E279D | Missense | 4/4 | - | 1 |
12-49579312-C-G | c.837G>C | p.E279D | Missense | 4/4 | - | 1 |
12-49579313-T-A | c.836A>T | p.E279V | Missense | 4/4 | - | 1 |
12-49579313-T-C | c.836A>G | p.E279G | Missense | 4/4 | - | 1 |
12-49579313-T-G | c.836A>C | p.E279A | Missense | 4/4 | - | 1 |
12-49579314-C-G | c.835G>C | p.E279Q | Missense | 4/4 | - | 1 |
12-49579314-C-T | c.835G>A | p.E279K | Missense | 4/4 | - | 1 |
12-49579314-C-A | c.835G>T | p.E279* | Nonsense | 4/4 | - | 1 |
12-49579316-G-A | c.833C>T | p.A278V | Missense | 4/4 | - | 1 |
12-49579316-G-C | c.833C>G | p.A278G | Missense | 4/4 | - | 1 |
12-49579316-G-T | c.833C>A | p.A278D | Missense | 4/4 | - | 1 |
12-49579317-C-A | c.832G>T | p.A278S | Missense | 4/4 | - | 1 |
12-49579317-C-G | c.832G>C | p.A278P | Missense | 4/4 | - | 1 |
12-49579317-C-T | c.832G>A | p.A278T | Missense | 4/4 | - | 1 |
12-49579319-G-A | c.830C>T | p.S277F | Missense | 4/4 | - | 1 |
12-49579319-G-C | c.830C>G | p.S277C | Missense | 4/4 | - | 1 |
12-49579319-G-T | c.830C>A | p.S277Y | Missense | 4/4 | - | 1 |
12-49579320-A-C | c.829T>G | p.S277A | Missense | 4/4 | - | 1 |
12-49579320-A-G | c.829T>C | p.S277P | Missense | 4/4 | - | 1 |
12-49579320-A-T | c.829T>A | p.S277T | Missense | 4/4 | - | 1 |
12-49579321-G-C | c.828C>G | p.I276M | Missense | 4/4 | - | 1 |
12-49579322-A-C | c.827T>G | p.I276S | Missense | 4/4 | - | 1 |
12-49579322-A-G | c.827T>C | p.I276T | Missense | 4/4 | - | 1 |
12-49579322-A-T | c.827T>A | p.I276N | Missense | 4/4 | - | 1 |
12-49579323-T-A | c.826A>T | p.I276F | Missense | 4/4 | - | 1 |
12-49579323-T-C | c.826A>G | p.I276V | Missense | 4/4 | - | 1 |
12-49579323-T-G | c.826A>C | p.I276L | Missense | 4/4 | - | 1 |
12-49579325-A-C | c.824T>G | p.V275G | Missense | 4/4 | - | 1 |
12-49579325-A-G | c.824T>C | p.V275A | Missense | 4/4 | - | 1 |
12-49579325-A-T | c.824T>A | p.V275D | Missense | 4/4 | - | 1 |
12-49579326-C-A | c.823G>T | p.V275F | Missense | 4/4 | - | 1 |
12-49579326-C-G | c.823G>C | p.V275L | Missense | 4/4 | - | 1 |
12-49579326-C-T | c.823G>A | p.V275I | Missense | 4/4 | - | 1 |
12-49579327-A-C | c.822T>G | p.P274= | Synonymous | 4/4 | - | 1 |
12-49579327-A-T | c.822T>A | p.P274= | Synonymous | 4/4 | - | 1 |
12-49579328-G-A | c.821C>T | p.P274L | Missense | 4/4 | - | 1 |
12-49579328-G-C | c.821C>G | p.P274R | Missense | 4/4 | - | 1 |
12-49579328-G-T | c.821C>A | p.P274H | Missense | 4/4 | - | 1 |
12-49579329-G-A | c.820C>T | p.P274S | Missense | 4/4 | - | 1 |
12-49579329-G-C | c.820C>G | p.P274A | Missense | 4/4 | - | 1 |
12-49579329-G-T | c.820C>A | p.P274T | Missense | 4/4 | - | 1 |
12-49579331-G-A | c.818C>T | p.A273V | Missense | 4/4 | - | 1 |
12-49579331-G-C | c.818C>G | p.A273G | Missense | 4/4 | - | 1 |
12-49579331-G-T | c.818C>A | p.A273D | Missense | 4/4 | - | 1 |
12-49579332-C-A | c.817G>T | p.A273S | Missense | 4/4 | - | 1 |
12-49579332-C-G | c.817G>C | p.A273P | Missense | 4/4 | - | 1 |
12-49579332-C-T | c.817G>A | p.A273T | Missense | 4/4 | - | 1 |
12-49579334-T-A | c.815A>T | p.Y272F | Missense | 4/4 | - | 1 |
12-49579334-T-C | c.815A>G | p.Y272C | Missense | 4/4 | - | 1 |
12-49579334-T-G | c.815A>C | p.Y272S | Missense | 4/4 | - | 1 |
12-49579335-A-C | c.814T>G | p.Y272D | Missense | 4/4 | - | 1 |
12-49579335-A-G | c.814T>C | p.Y272H | Missense | 4/4 | - | 1 |
12-49579335-A-T | c.814T>A | p.Y272N | Missense | 4/4 | - | 1 |
12-49579337-G-A | c.812C>T | p.T271I | Missense | 4/4 | - | 1 |
12-49579337-G-C | c.812C>G | p.T271R | Missense | 4/4 | - | 1 |
12-49579337-G-T | c.812C>A | p.T271K | Missense | 4/4 | - | 1 |
12-49579338-T-A | c.811A>T | p.T271S | Missense | 4/4 | - | 1 |
12-49579338-T-C | c.811A>G | p.T271A | Missense | 4/4 | - | 1 |
12-49579338-T-G | c.811A>C | p.T271P | Missense | 4/4 | - | 1 |
12-49579340-G-A | c.809C>T | p.A270V | Missense | 4/4 | - | 1 |
12-49579340-G-C | c.809C>G | p.A270G | Missense | 4/4 | - | 1 |
12-49579340-G-T | c.809C>A | p.A270D | Missense | 4/4 | - | 1 |
12-49579341-C-A | c.808G>T | p.A270S | Missense | 4/4 | - | 2 |
12-49579341-C-G | c.808G>C | p.A270P | Missense | 4/4 | - | 1 |
12-49579341-C-T | c.808G>A | p.A270T | Missense | 4/4 | - | 3 |
12-49579343-A-C | c.806T>G | p.L269R | Missense | 4/4 | - | 1 |
12-49579343-A-G | c.806T>C | p.L269P | Missense | 4/4 | - | 1 |
12-49579343-A-T | c.806T>A | p.L269Q | Missense | 4/4 | - | 1 |
12-49579344-G-C | c.805C>G | p.L269V | Missense | 4/4 | - | 1 |
12-49579344-G-T | c.805C>A | p.L269M | Missense | 4/4 | - | 1 |
12-49579346-G-A | c.803C>T | p.P268L | Missense | 4/4 | - | 1 |
12-49579346-G-C | c.803C>G | p.P268R | Missense | 4/4 | - | 1 |
12-49579346-G-T | c.803C>A | p.P268H | Missense | 4/4 | - | 1 |
12-49579347-G-A | c.802C>T | p.P268S | Missense | 4/4 | - | 1 |
12-49579347-G-C | c.802C>G | p.P268A | Missense | 4/4 | - | 1 |
12-49579347-G-T | c.802C>A | p.P268T | Missense | 4/4 | - | 1 |
12-49579348-G-C | c.801C>G | p.F267L | Missense | 4/4 | - | 1 |
12-49579348-G-T | c.801C>A | p.F267L | Missense | 4/4 | - | 1 |
12-49579349-A-C | c.800T>G | p.F267C | Missense | 4/4 | - | 1 |
12-49579349-A-G | c.800T>C | p.F267S | Missense | 4/4 | - | 1 |
12-49579349-A-T | c.800T>A | p.F267Y | Missense | 4/4 | - | 1 |
12-49579350-A-C | c.799T>G | p.F267V | Missense | 4/4 | - | 1 |
12-49579350-A-G | c.799T>C | p.F267L | Missense | 4/4 | - | 1 |
12-49579350-A-T | c.799T>A | p.F267I | Missense | 4/4 | - | 1 |
12-49579351-G-C | c.798C>G | p.H266Q | Missense | 4/4 | - | 1 |
12-49579351-G-T | c.798C>A | p.H266Q | Missense | 4/4 | - | 1 |
12-49579352-T-A | c.797A>T | p.H266L | Missense | 4/4 | - | 1 |
12-49579352-T-C | c.797A>G | p.H266R | Missense | 4/4 | - | 1 |
12-49579352-T-G | c.797A>C | p.H266P | Missense | 4/4 | - | 1 |
12-49579353-G-A | c.796C>T | p.H266Y | Missense | 4/4 | - | 1 |
12-49579353-G-C | c.796C>G | p.H266D | Missense | 4/4 | - | 1 |
12-49579353-G-T | c.796C>A | p.H266N | Missense | 4/4 | - | 1 |
12-49579354-G-C | c.795C>G | p.I265M | Missense | 4/4 | - | 1 |
12-49579354-G-T | c.795C>A | p.I265= | Synonymous | 4/4 | - | 1 |
12-49579355-A-C | c.794T>G | p.I265S | Missense | 4/4 | - | 1 |
12-49579355-A-G | c.794T>C | p.I265T | Missense | 4/4 | - | 1 |
12-49579355-A-T | c.794T>A | p.I265N | Missense | 4/4 | - | 1 |
12-49579356-T-A | c.793A>T | p.I265F | Missense | 4/4 | - | 1 |
12-49579356-T-C | c.793A>G | p.I265V | Missense | 4/4 | - | 1 |
12-49579356-T-G | c.793A>C | p.I265L | Missense | 4/4 | - | 1 |
12-49579358-C-A | c.791G>T | p.R264L | Missense | 4/4 | - | 1 |
12-49579358-C-G | c.791G>C | p.R264P | Missense | 4/4 | - | 1 |
12-49579358-C-T | c.791G>A | p.R264H | Missense | 4/4 | - | 4 |
12-49579359-G-A | c.790C>T | p.R264C | Missense | 4/4 | - | 19 |
12-49579359-G-C | c.790C>G | p.R264G | Missense | 4/4 | - | 1 |
12-49579359-G-T | c.790C>A | p.R264S | Missense | 4/4 | - | 1 |
12-49579360-GG-TT | c.788_789delinsAA | p.P263Q | Missense | 4/4 | - | 1 |
12-49579361-G-A | c.788C>T | p.P263L | Missense | 4/4 | - | 1 |
12-49579361-G-C | c.788C>G | p.P263R | Missense | 4/4 | - | 1 |
12-49579361-G-T | c.788C>A | p.P263H | Missense | 4/4 | - | 1 |
12-49579362-G-T | c.787C>A | p.P263T | Missense | 4/4 | - | 6 |
12-49579362-G-A | c.787C>T | p.P263S | Missense | 4/4 | - | 1 |
12-49579362-G-C | c.787C>G | p.P263A | Missense | 4/4 | - | 1 |
12-49579364-T-A | c.785A>T | p.Y262F | Missense | 4/4 | - | 1 |
12-49579364-T-C | c.785A>G | p.Y262C | Missense | 4/4 | - | 1 |
12-49579364-T-G | c.785A>C | p.Y262S | Missense | 4/4 | - | 1 |
12-49579365-A-C | c.784T>G | p.Y262D | Missense | 4/4 | - | 1 |
12-49579365-A-G | c.784T>C | p.Y262H | Missense | 4/4 | - | 1 |
12-49579365-A-T | c.784T>A | p.Y262N | Missense | 4/4 | - | 1 |
12-49579367-G-A | c.782C>T | p.P261L | Missense | 4/4 | - | 1 |
12-49579367-G-C | c.782C>G | p.P261R | Missense | 4/4 | - | 1 |
12-49579367-G-T | c.782C>A | p.P261H | Missense | 4/4 | - | 1 |
12-49579368-G-A | c.781C>T | p.P261S | Missense | 4/4 | - | 1 |
12-49579368-G-C | c.781C>G | p.P261A | Missense | 4/4 | - | 1 |
12-49579368-G-T | c.781C>A | p.P261T | Missense | 4/4 | - | 1 |
12-49579370-A-C | c.779T>G | p.V260G | Missense | 4/4 | - | 1 |
12-49579370-A-G | c.779T>C | p.V260A | Missense | 4/4 | - | 1 |
12-49579370-A-T | c.779T>A | p.V260E | Missense | 4/4 | - | 1 |
12-49579371-C-A | c.778G>T | p.V260L | Missense | 4/4 | - | 1 |
12-49579371-C-G | c.778G>C | p.V260L | Missense | 4/4 | - | 1 |
12-49579371-C-T | c.778G>A | p.V260M | Missense | 4/4 | - | 1 |
12-49579373-A-C | c.776T>G | p.L259R | Missense | 4/4 | - | 1 |
12-49579373-A-G | c.776T>C | p.L259P | Missense | 4/4 | - | 1 |
12-49579373-A-T | c.776T>A | p.L259Q | Missense | 4/4 | - | 1 |
12-49579374-G-C | c.775C>G | p.L259V | Missense | 4/4 | - | 1 |
12-49579374-G-T | c.775C>A | p.L259M | Missense | 4/4 | - | 1 |
12-49579375-G-C | c.774C>G | p.N258K | Missense | 4/4 | - | 1 |
12-49579375-G-T | c.774C>A | p.N258K | Missense | 4/4 | - | 1 |
12-49579376-T-A | c.773A>T | p.N258I | Missense | 4/4 | - | 1 |
12-49579376-T-C | c.773A>G | p.N258S | Missense | 4/4 | - | 1 |
12-49579376-T-G | c.773A>C | p.N258T | Missense | 4/4 | - | 1 |
12-49579377-T-A | c.772A>T | p.N258Y | Missense | 4/4 | - | 1 |
12-49579377-T-C | c.772A>G | p.N258D | Missense | 4/4 | - | 1 |
12-49579377-T-G | c.772A>C | p.N258H | Missense | 4/4 | - | 1 |
12-49579379-G-C | c.770C>G | p.T257S | Missense | 4/4 | - | 1 |
12-49579379-G-A | c.770C>T | p.T257I | Missense | 4/4 | - | 1 |
12-49579379-G-T | c.770C>A | p.T257N | Missense | 4/4 | - | 1 |
12-49579380-T-A | c.769A>T | p.T257S | Missense | 4/4 | - | 1 |
12-49579380-T-C | c.769A>G | p.T257A | Missense | 4/4 | - | 1 |
12-49579380-T-G | c.769A>C | p.T257P | Missense | 4/4 | - | 1 |
12-49579381-C-A | c.768G>T | p.Q256H | Missense | 4/4 | - | 1 |
12-49579381-C-G | c.768G>C | p.Q256H | Missense | 4/4 | - | 1 |
12-49579382-T-A | c.767A>T | p.Q256L | Missense | 4/4 | - | 1 |
12-49579382-T-C | c.767A>G | p.Q256R | Missense | 4/4 | - | 1 |
12-49579382-T-G | c.767A>C | p.Q256P | Missense | 4/4 | - | 1 |
12-49579383-G-C | c.766C>G | p.Q256E | Missense | 4/4 | - | 1 |
12-49579383-G-T | c.766C>A | p.Q256K | Missense | 4/4 | - | 1 |
12-49579384-G-C | c.765C>G | p.F255L | Missense | 4/4 | - | 1 |
12-49579384-G-T | c.765C>A | p.F255L | Missense | 4/4 | - | 1 |
12-49579385-A-C | c.764T>G | p.F255C | Missense | 4/4 | - | 1 |
12-49579385-A-G | c.764T>C | p.F255S | Missense | 4/4 | - | 1 |
12-49579385-A-T | c.764T>A | p.F255Y | Missense | 4/4 | - | 1 |
12-49579386-A-C | c.763T>G | p.F255V | Missense | 4/4 | - | 1 |
12-49579386-A-G | c.763T>C | p.F255L | Missense | 4/4 | - | 1 |
12-49579386-A-T | c.763T>A | p.F255I | Missense | 4/4 | - | 1 |
12-49579387-T-A | c.762A>T | p.E254D | Missense | 4/4 | - | 1 |
12-49579387-T-G | c.762A>C | p.E254D | Missense | 4/4 | - | 1 |
12-49579388-T-A | c.761A>T | p.E254V | Missense | 4/4 | - | 1 |
12-49579388-T-C | c.761A>G | p.E254G | Missense | 4/4 | - | 1 |
12-49579388-T-G | c.761A>C | p.E254A | Missense | 4/4 | - | 1 |
12-49579389-C-G | c.760G>C | p.E254Q | Missense | 4/4 | - | 1 |
12-49579389-C-T | c.760G>A | p.E254K | Missense | 4/4 | - | 1 |
12-49579389-C-A | c.760G>T | p.E254* | Nonsense | 4/4 | - | 1 |
12-49579391-G-A | c.758C>T | p.T253I | Missense | 4/4 | - | 1 |
12-49579391-G-C | c.758C>G | p.T253R | Missense | 4/4 | - | 1 |
12-49579391-G-T | c.758C>A | p.T253K | Missense | 4/4 | - | 1 |
12-49579392-T-A | c.757A>T | p.T253S | Missense | 4/4 | - | 1 |
12-49579392-T-C | c.757A>G | p.T253A | Missense | 4/4 | - | 1 |
12-49579392-T-G | c.757A>C | p.T253P | Missense | 4/4 | - | 1 |
12-49579394-A-C | c.755T>G | p.L252R | Missense | 4/4 | - | 1 |
12-49579394-A-G | c.755T>C | p.L252P | Missense | 4/4 | - | 1 |
12-49579394-A-T | c.755T>A | p.L252Q | Missense | 4/4 | - | 1 |
12-49579395-G-C | c.754C>G | p.L252V | Missense | 4/4 | - | 1 |
12-49579395-G-T | c.754C>A | p.L252M | Missense | 4/4 | - | 1 |
12-49579396-G-C | c.753C>G | p.D251E | Missense | 4/4 | - | 1 |
12-49579396-G-T | c.753C>A | p.D251E | Missense | 4/4 | - | 1 |
12-49579397-T-A | c.752A>T | p.D251V | Missense | 4/4 | - | 1 |
12-49579397-T-C | c.752A>G | p.D251G | Missense | 4/4 | - | 1 |
12-49579397-T-G | c.752A>C | p.D251A | Missense | 4/4 | - | 1 |
12-49579398-C-A | c.751G>T | p.D251Y | Missense | 4/4 | - | 1 |
12-49579398-C-G | c.751G>C | p.D251H | Missense | 4/4 | - | 1 |
12-49579398-C-T | c.751G>A | p.D251N | Missense | 4/4 | - | 1 |
12-49579400-A-C | c.749T>G | p.V250G | Missense | 4/4 | - | 1 |
12-49579400-A-G | c.749T>C | p.V250A | Missense | 4/4 | - | 1 |
12-49579400-A-T | c.749T>A | p.V250D | Missense | 4/4 | - | 1 |
12-49579401-C-A | c.748G>T | p.V250F | Missense | 4/4 | - | 2 |
12-49579401-C-G | c.748G>C | p.V250L | Missense | 4/4 | - | 1 |
12-49579401-C-T | c.748G>A | p.V250I | Missense | 4/4 | - | 1 |
12-49579402-A-C | c.747T>G | p.N249K | Missense | 4/4 | - | 1 |
12-49579402-A-T | c.747T>A | p.N249K | Missense | 4/4 | - | 1 |
12-49579403-T-C | c.746A>G | p.N249S | Missense | 4/4 | - | 2 |
12-49579403-T-A | c.746A>T | p.N249I | Missense | 4/4 | - | 1 |
12-49579403-T-G | c.746A>C | p.N249T | Missense | 4/4 | - | 1 |
12-49579404-T-A | c.745A>T | p.N249Y | Missense | 4/4 | - | 1 |
12-49579404-T-C | c.745A>G | p.N249D | Missense | 4/4 | - | 1 |
12-49579404-T-G | c.745A>C | p.N249H | Missense | 4/4 | - | 1 |
12-49579406-A-C | c.743T>G | p.L248R | Missense | 4/4 | - | 1 |
12-49579406-A-G | c.743T>C | p.L248P | Missense | 4/4 | - | 1 |
12-49579406-A-T | c.743T>A | p.L248Q | Missense | 4/4 | - | 1 |
12-49579407-G-C | c.742C>G | p.L248V | Missense | 4/4 | - | 1 |
12-49579407-G-T | c.742C>A | p.L248M | Missense | 4/4 | - | 1 |
12-49579407-G-A | c.742C>T | p.L248= | Synonymous | 4/4 | - | 1 |
12-49579409-G-A | c.740C>T | p.A247V | Missense | 4/4 | - | 1 |
12-49579409-G-C | c.740C>G | p.A247G | Missense | 4/4 | - | 1 |
12-49579409-G-T | c.740C>A | p.A247D | Missense | 4/4 | - | 1 |
12-49579410-C-A | c.739G>T | p.A247S | Missense | 4/4 | - | 1 |
12-49579410-C-G | c.739G>C | p.A247P | Missense | 4/4 | - | 1 |
12-49579410-C-T | c.739G>A | p.A247T | Missense | 4/4 | - | 1 |
12-49579412-C-A | c.737G>T | p.G246V | Missense | 4/4 | - | 1 |
12-49579412-C-G | c.737G>C | p.G246A | Missense | 4/4 | - | 1 |
12-49579412-C-T | c.737G>A | p.G246E | Missense | 4/4 | - | 1 |
12-49579413-C-G | c.736G>C | p.G246R | Missense | 4/4 | - | 1 |
12-49579413-C-T | c.736G>A | p.G246R | Missense | 4/4 | - | 1 |
12-49579413-C-A | c.736G>T | p.G246* | Nonsense | 4/4 | - | 1 |
12-49579414-A-C | c.735T>G | p.D245E | Missense | 4/4 | - | 1 |
12-49579414-A-T | c.735T>A | p.D245E | Missense | 4/4 | - | 1 |
12-49579415-T-A | c.734A>T | p.D245V | Missense | 4/4 | - | 1 |
12-49579415-T-C | c.734A>G | p.D245G | Missense | 4/4 | - | 1 |
12-49579415-T-G | c.734A>C | p.D245A | Missense | 4/4 | - | 1 |
12-49579416-C-A | c.733G>T | p.D245Y | Missense | 4/4 | - | 1 |
12-49579416-C-G | c.733G>C | p.D245H | Missense | 4/4 | - | 1 |
12-49579416-C-T | c.733G>A | p.D245N | Missense | 4/4 | - | 1 |
12-49579417-A-C | c.732T>G | p.F244L | Missense | 4/4 | - | 1 |
12-49579417-A-T | c.732T>A | p.F244L | Missense | 4/4 | - | 1 |
12-49579418-A-C | c.731T>G | p.F244C | Missense | 4/4 | - | 1 |
12-49579418-A-G | c.731T>C | p.F244S | Missense | 4/4 | - | 1 |
12-49579418-A-T | c.731T>A | p.F244Y | Missense | 4/4 | - | 1 |
12-49579419-A-C | c.730T>G | p.F244V | Missense | 4/4 | - | 1 |
12-49579419-A-G | c.730T>C | p.F244L | Missense | 4/4 | - | 1 |
12-49579419-A-T | c.730T>A | p.F244I | Missense | 4/4 | - | 1 |
12-49579420-T-A | c.729A>T | p.R243S | Missense | 4/4 | - | 1 |
12-49579420-T-G | c.729A>C | p.R243S | Missense | 4/4 | - | 1 |
12-49579421-C-A | c.728G>T | p.R243I | Missense | 4/4 | - | 1 |
12-49579421-C-G | c.728G>C | p.R243T | Missense | 4/4 | - | 1 |
12-49579421-C-T | c.728G>A | p.R243K | Missense | 4/4 | - | 1 |
12-49579422-T-C | c.727A>G | p.R243G | Missense | 4/4 | - | 1 |
12-49579424-A-C | c.725T>G | p.L242R | Missense | 4/4 | - | 1 |
12-49579424-A-G | c.725T>C | p.L242P | Missense | 4/4 | - | 1 |
12-49579424-A-T | c.725T>A | p.L242Q | Missense | 4/4 | - | 1 |
12-49579425-G-C | c.724C>G | p.L242V | Missense | 4/4 | - | 1 |
12-49579425-G-T | c.724C>A | p.L242M | Missense | 4/4 | - | 1 |
12-49579426-G-C | c.723C>G | p.S241= | Synonymous | 4/4 | - | 1 |
12-49579427-G-A | c.722C>T | p.S241F | Missense | 4/4 | - | 1 |
12-49579427-G-C | c.722C>G | p.S241C | Missense | 4/4 | - | 1 |
12-49579427-G-T | c.722C>A | p.S241Y | Missense | 4/4 | - | 1 |
12-49579428-A-C | c.721T>G | p.S241A | Missense | 4/4 | - | 1 |
12-49579428-A-G | c.721T>C | p.S241P | Missense | 4/4 | - | 1 |
12-49579428-A-T | c.721T>A | p.S241T | Missense | 4/4 | - | 1 |
12-49579430-G-A | c.719C>T | p.A240V | Missense | 4/4 | - | 1 |
12-49579430-G-C | c.719C>G | p.A240G | Missense | 4/4 | - | 1 |
12-49579430-G-T | c.719C>A | p.A240D | Missense | 4/4 | - | 1 |
12-49579431-C-A | c.718G>T | p.A240S | Missense | 4/4 | - | 1 |
12-49579431-C-G | c.718G>C | p.A240P | Missense | 4/4 | - | 1 |
12-49579431-C-T | c.718G>A | p.A240T | Missense | 4/4 | - | 1 |
12-49579433-G-C | c.716C>G | p.T239S | Missense | 4/4 | - | 1 |
12-49579433-G-A | c.716C>T | p.T239I | Missense | 4/4 | - | 1 |
12-49579433-G-T | c.716C>A | p.T239N | Missense | 4/4 | - | 1 |
12-49579434-T-A | c.715A>T | p.T239S | Missense | 4/4 | - | 1 |
12-49579434-T-C | c.715A>G | p.T239A | Missense | 4/4 | - | 1 |
12-49579434-T-G | c.715A>C | p.T239P | Missense | 4/4 | - | 1 |
12-49579435-G-C | c.714C>G | p.I238M | Missense | 4/4 | - | 1 |
12-49579436-A-C | c.713T>G | p.I238S | Missense | 4/4 | - | 1 |
12-49579436-A-G | c.713T>C | p.I238T | Missense | 4/4 | - | 1 |
12-49579436-A-T | c.713T>A | p.I238N | Missense | 4/4 | - | 1 |
12-49579437-T-A | c.712A>T | p.I238F | Missense | 4/4 | - | 1 |
12-49579437-T-C | c.712A>G | p.I238V | Missense | 4/4 | - | 4 |
12-49579437-T-G | c.712A>C | p.I238L | Missense | 4/4 | - | 1 |
12-49579439-G-A | c.710C>T | p.S237F | Missense | 4/4 | - | 1 |
12-49579439-G-C | c.710C>G | p.S237C | Missense | 4/4 | - | 1 |
12-49579439-G-T | c.710C>A | p.S237Y | Missense | 4/4 | - | 1 |
12-49579440-A-C | c.709T>G | p.S237A | Missense | 4/4 | - | 1 |
12-49579440-A-G | c.709T>C | p.S237P | Missense | 4/4 | - | 1 |
12-49579440-A-T | c.709T>A | p.S237T | Missense | 4/4 | - | 1 |
12-49579442-G-A | c.707C>T | p.S236F | Missense | 4/4 | - | 1 |
12-49579442-G-C | c.707C>G | p.S236C | Missense | 4/4 | - | 1 |
12-49579442-G-T | c.707C>A | p.S236Y | Missense | 4/4 | - | 1 |
12-49579443-A-C | c.706T>G | p.S236A | Missense | 4/4 | - | 1 |
12-49579443-A-G | c.706T>C | p.S236P | Missense | 4/4 | - | 1 |
12-49579443-A-T | c.706T>A | p.S236T | Missense | 4/4 | - | 1 |
12-49579445-A-C | c.704T>G | p.V235G | Missense | 4/4 | - | 1 |
12-49579445-A-G | c.704T>C | p.V235A | Missense | 4/4 | - | 1 |
12-49579445-A-T | c.704T>A | p.V235E | Missense | 4/4 | - | 1 |
12-49579446-C-A | c.703G>T | p.V235L | Missense | 4/4 | - | 4 |
12-49579446-C-G | c.703G>C | p.V235L | Missense | 4/4 | - | 2 |
12-49579446-C-T | c.703G>A | p.V235M | Missense | 4/4 | - | 1 |
12-49579447-A-C | c.702T>G | p.I234M | Missense | 4/4 | - | 1 |
12-49579448-A-C | c.701T>G | p.I234S | Missense | 4/4 | - | 1 |
12-49579448-A-G | c.701T>C | p.I234T | Missense | 4/4 | - | 1 |
12-49579448-A-T | c.701T>A | p.I234N | Missense | 4/4 | - | 1 |
12-49579449-T-A | c.700A>T | p.I234F | Missense | 4/4 | - | 1 |
12-49579449-T-C | c.700A>G | p.I234V | Missense | 4/4 | - | 1 |
12-49579449-T-G | c.700A>C | p.I234L | Missense | 4/4 | - | 1 |
12-49579450-T-A | c.699A>T | p.Q233H | Missense | 4/4 | - | 1 |
12-49579450-T-G | c.699A>C | p.Q233H | Missense | 4/4 | - | 1 |
12-49579451-T-A | c.698A>T | p.Q233L | Missense | 4/4 | - | 1 |
12-49579451-T-C | c.698A>G | p.Q233R | Missense | 4/4 | - | 1 |
12-49579451-T-G | c.698A>C | p.Q233P | Missense | 4/4 | - | 1 |
12-49579452-G-C | c.697C>G | p.Q233E | Missense | 4/4 | - | 1 |
12-49579452-G-T | c.697C>A | p.Q233K | Missense | 4/4 | - | 1 |
12-49579452-G-A | c.697C>T | p.Q233* | Nonsense | 4/4 | - | 1 |
12-49579454-C-A | c.695G>T | p.G232V | Missense | 4/4 | - | 1 |
12-49579454-C-G | c.695G>C | p.G232A | Missense | 4/4 | - | 1 |
12-49579454-C-T | c.695G>A | p.G232D | Missense | 4/4 | - | 1 |
12-49579455-C-A | c.694G>T | p.G232C | Missense | 4/4 | - | 1 |
12-49579455-C-G | c.694G>C | p.G232R | Missense | 4/4 | - | 1 |
12-49579455-C-T | c.694G>A | p.G232S | Missense | 4/4 | - | 1 |
12-49579456-T-C | c.693A>G | p.I231M | Missense | 4/4 | - | 1 |
12-49579456-TAT-AAA | c.691_693delinsTTT | p.I231F | Missense | 4/4 | - | 1 |
12-49579456-TA-GC | c.692_693delinsGC | p.I231S | Missense | 4/4 | - | 1 |
12-49579456-TA-GT | c.692_693delinsAC | p.I231N | Missense | 4/4 | - | 1 |
12-49579457-A-C | c.692T>G | p.I231R | Missense | 4/4 | - | 1 |
12-49579457-A-G | c.692T>C | p.I231T | Missense | 4/4 | - | 1 |
12-49579457-A-T | c.692T>A | p.I231K | Missense | 4/4 | - | 1 |
12-49579458-T-A | c.691A>T | p.I231L | Missense | 4/4 | - | 1 |
12-49579458-T-G | c.691A>C | p.I231L | Missense | 4/4 | - | 1 |
12-49579458-T-C | c.691A>G | p.I231V | Missense | 4/4 | - | 1 |
12-49579459-T-A | c.690A>T | p.L230F | Missense | 4/4 | - | 1 |
12-49579459-T-G | c.690A>C | p.L230F | Missense | 4/4 | - | 1 |
12-49579460-A-G | c.689T>C | p.L230S | Missense | 4/4 | - | 1 |
12-49579460-A-C | c.689T>G | p.L230* | Nonsense | 4/4 | - | 1 |
12-49579460-A-T | c.689T>A | p.L230* | Nonsense | 4/4 | - | 1 |
12-49579461-A-C | c.688T>G | p.L230V | Missense | 4/4 | - | 1 |
12-49579461-A-T | c.688T>A | p.L230I | Missense | 4/4 | - | 1 |
12-49579462-C-A | c.687G>T | p.R229S | Missense | 4/4 | - | 1 |
12-49579462-C-G | c.687G>C | p.R229S | Missense | 4/4 | - | 1 |
12-49579462-CCT-ACA | c.685_687delinsTGT | p.R229C | Missense | 4/4 | - | 1 |
12-49579462-CCT-ATG | c.685_687delinsCAT | p.R229H | Missense | 4/4 | - | 1 |
12-49579463-C-A | c.686G>T | p.R229M | Missense | 4/4 | - | 1 |
12-49579463-C-G | c.686G>C | p.R229T | Missense | 4/4 | - | 1 |
12-49579463-C-T | c.686G>A | p.R229K | Missense | 4/4 | - | 1 |
12-49579463-CT-AG | c.685_686inv | p.R229L | Missense | 4/4 | - | 1 |
12-49579463-CT-GG | c.685_686delinsCC | p.R229P | Missense | 4/4 | - | 1 |
12-49579464-T-A | c.685A>T | p.R229W | Missense | 4/4 | - | 1 |
12-49579464-T-C | c.685A>G | p.R229G | Missense | 4/4 | - | 1 |
12-49579465-A-C | c.684T>G | p.N228K | Missense | 4/4 | - | 1 |
12-49579465-A-T | c.684T>A | p.N228K | Missense | 4/4 | - | 1 |
12-49579466-T-A | c.683A>T | p.N228I | Missense | 4/4 | - | 1 |
12-49579466-T-C | c.683A>G | p.N228S | Missense | 4/4 | - | 1 |
12-49579466-T-G | c.683A>C | p.N228T | Missense | 4/4 | - | 1 |
12-49579467-T-A | c.682A>T | p.N228Y | Missense | 4/4 | - | 1 |
12-49579467-T-C | c.682A>G | p.N228D | Missense | 4/4 | - | 1 |
12-49579467-T-G | c.682A>C | p.N228H | Missense | 4/4 | - | 1 |
12-49579468-C-A | c.681G>T | p.L227= | Synonymous | 4/4 | - | 1 |
12-49579468-C-G | c.681G>C | p.L227= | Synonymous | 4/4 | - | 1 |
12-49579469-A-C | c.680T>G | p.L227R | Missense | 4/4 | - | 1 |
12-49579469-A-G | c.680T>C | p.L227P | Missense | 4/4 | - | 1 |
12-49579469-A-T | c.680T>A | p.L227Q | Missense | 4/4 | - | 2 |
12-49579470-G-C | c.679C>G | p.L227V | Missense | 4/4 | - | 1 |
12-49579470-G-T | c.679C>A | p.L227M | Missense | 4/4 | - | 1 |
12-49579471-G-C | c.678C>G | p.N226K | Missense | 4/4 | - | 1 |
12-49579471-G-T | c.678C>A | p.N226K | Missense | 4/4 | - | 1 |
12-49579472-T-A | c.677A>T | p.N226I | Missense | 4/4 | - | 1 |
12-49579472-T-C | c.677A>G | p.N226S | Missense | 4/4 | - | 1 |
12-49579472-T-G | c.677A>C | p.N226T | Missense | 4/4 | - | 1 |
12-49579473-T-A | c.676A>T | p.N226Y | Missense | 4/4 | - | 1 |
12-49579473-T-C | c.676A>G | p.N226D | Missense | 4/4 | - | 1 |
12-49579473-T-G | c.676A>C | p.N226H | Missense | 4/4 | - | 1 |
12-49579475-G-C | c.674C>G | p.T225S | Missense | 4/4 | - | 1 |
12-49579475-G-A | c.674C>T | p.T225I | Missense | 4/4 | - | 1 |
12-49579475-G-T | c.674C>A | p.T225N | Missense | 4/4 | - | 1 |
12-49579476-T-A | c.673A>T | p.T225S | Missense | 4/4 | - | 1 |
12-49579476-T-C | c.673A>G | p.T225A | Missense | 4/4 | - | 1 |
12-49579476-T-G | c.673A>C | p.T225P | Missense | 4/4 | - | 1 |
12-49579478-T-A | c.671A>T | p.Y224F | Missense | 4/4 | - | 1 |
12-49579478-T-C | c.671A>G | p.Y224C | Missense | 4/4 | - | 1 |
12-49579478-T-G | c.671A>C | p.Y224S | Missense | 4/4 | - | 1 |
12-49579479-A-C | c.670T>G | p.Y224D | Missense | 4/4 | - | 1 |
12-49579479-A-G | c.670T>C | p.Y224H | Missense | 4/4 | - | 1 |
12-49579479-A-T | c.670T>A | p.Y224N | Missense | 4/4 | - | 1 |
12-49579480-G-C | c.669C>G | p.T223= | Synonymous | 4/4 | - | 1 |
12-49579480-G-T | c.669C>A | p.T223= | Synonymous | 4/4 | - | 1 |
12-49579481-G-C | c.668C>G | p.T223S | Missense | 4/4 | - | 1 |
12-49579481-G-A | c.668C>T | p.T223I | Missense | 4/4 | - | 1 |
12-49579481-G-T | c.668C>A | p.T223N | Missense | 4/4 | - | 1 |
12-49579482-T-A | c.667A>T | p.T223S | Missense | 4/4 | - | 1 |
12-49579482-T-C | c.667A>G | p.T223A | Missense | 4/4 | - | 1 |
12-49579482-T-G | c.667A>C | p.T223P | Missense | 4/4 | - | 1 |
12-49579484-G-A | c.665C>T | p.P222L | Missense | 4/4 | - | 1 |
12-49579484-G-C | c.665C>G | p.P222R | Missense | 4/4 | - | 1 |
12-49579484-G-T | c.665C>A | p.P222Q | Missense | 4/4 | - | 1 |
12-49579485-G-A | c.664C>T | p.P222S | Missense | 4/4 | - | 1 |
12-49579485-G-C | c.664C>G | p.P222A | Missense | 4/4 | - | 1 |
12-49579485-G-T | c.664C>A | p.P222T | Missense | 4/4 | - | 1 |
12-49579487-C-A | c.662G>T | p.R221L | Missense | 4/4 | - | 1 |
12-49579487-C-G | c.662G>C | p.R221P | Missense | 4/4 | - | 1 |
12-49579487-C-T | c.662G>A | p.R221H | Missense | 4/4 | - | 1 |
12-49579488-G-C | c.661C>G | p.R221G | Missense | 4/4 | - | 1 |
12-49579488-G-T | c.661C>A | p.R221S | Missense | 4/4 | - | 1 |
12-49579488-G-A | c.661C>T | p.R221C | Missense | 4/4 | - | 1 |
12-49579489-C-A | c.660G>T | p.E220D | Missense | 4/4 | - | 1 |
12-49579489-C-G | c.660G>C | p.E220D | Missense | 4/4 | - | 1 |
12-49579490-T-A | c.659A>T | p.E220V | Missense | 4/4 | - | 1 |
12-49579490-T-C | c.659A>G | p.E220G | Missense | 4/4 | - | 1 |
12-49579490-T-G | c.659A>C | p.E220A | Missense | 4/4 | - | 1 |
12-49579491-C-G | c.658G>C | p.E220Q | Missense | 4/4 | - | 1 |
12-49579491-C-T | c.658G>A | p.E220K | Missense | 4/4 | - | 1 |
12-49579492-A-C | c.657T>G | p.I219M | Missense | 4/4 | - | 1 |
12-49579492-A-G | c.657T>C | p.I219= | Synonymous | 4/4 | - | 1 |
12-49579493-A-G | c.656T>C | p.I219T | Missense | 4/4 | - | 2 |
12-49579493-A-C | c.656T>G | p.I219S | Missense | 4/4 | - | 1 |
12-49579493-A-T | c.656T>A | p.I219N | Missense | 4/4 | - | 1 |
12-49579494-T-A | c.655A>T | p.I219F | Missense | 4/4 | - | 1 |
12-49579494-T-C | c.655A>G | p.I219V | Missense | 4/4 | - | 3 |
12-49579494-T-G | c.655A>C | p.I219L | Missense | 4/4 | - | 1 |
12-49579495-A-C | c.654T>G | p.D218E | Missense | 4/4 | - | 1 |
12-49579495-A-T | c.654T>A | p.D218E | Missense | 4/4 | - | 1 |
12-49579496-T-A | c.653A>T | p.D218V | Missense | 4/4 | - | 1 |
12-49579496-T-C | c.653A>G | p.D218G | Missense | 4/4 | - | 1 |
12-49579496-T-G | c.653A>C | p.D218A | Missense | 4/4 | - | 1 |
12-49579497-C-T | c.652G>A | p.D218N | Missense | 4/4 | - | 1 |
12-49579497-C-A | c.652G>T | p.D218Y | Missense | 4/4 | - | 6 |
12-49579497-C-G | c.652G>C | p.D218H | Missense | 4/4 | - | 1 |
12-49579498-GAG-CAT | c.649_651delinsATG | p.L217M | Missense | 4/4 | - | 1 |
12-49579498-GA-TT | c.650_651delinsAA | p.L217Q | Missense | 4/4 | - | 1 |
12-49579499-A-C | c.650T>G | p.L217R | Missense | 4/4 | - | 1 |
12-49579499-A-G | c.650T>C | p.L217P | Missense | 4/4 | - | 1 |
12-49579499-A-T | c.650T>A | p.L217H | Missense | 4/4 | - | 1 |
12-49579500-G-A | c.649C>T | p.L217F | Missense | 4/4 | - | 1 |
12-49579500-G-C | c.649C>G | p.L217V | Missense | 4/4 | - | 1 |
12-49579500-G-T | c.649C>A | p.L217I | Missense | 4/4 | - | 1 |
12-49579501-G-C | c.648C>G | p.N216K | Missense | 4/4 | - | 1 |
12-49579501-G-T | c.648C>A | p.N216K | Missense | 4/4 | - | 1 |
12-49579502-T-A | c.647A>T | p.N216I | Missense | 4/4 | - | 1 |
12-49579502-T-C | c.647A>G | p.N216S | Missense | 4/4 | - | 1 |
12-49579502-T-G | c.647A>C | p.N216T | Missense | 4/4 | - | 1 |
12-49579503-T-A | c.646A>T | p.N216Y | Missense | 4/4 | - | 1 |
12-49579503-T-C | c.646A>G | p.N216D | Missense | 4/4 | - | 1 |
12-49579503-T-G | c.646A>C | p.N216H | Missense | 4/4 | - | 1 |
12-49579504-T-A | c.645A>T | p.R215S | Missense | 4/4 | - | 1 |
12-49579504-T-G | c.645A>C | p.R215S | Missense | 4/4 | - | 1 |
12-49579505-C-A | c.644G>T | p.R215I | Missense | 4/4 | - | 1 |
12-49579505-C-G | c.644G>C | p.R215T | Missense | 4/4 | - | 1 |
12-49579505-C-T | c.644G>A | p.R215K | Missense | 4/4 | - | 1 |
12-49579506-T-C | c.643A>G | p.R215G | Missense | 4/4 | - | 1 |
12-49579506-T-A | c.643A>T | p.R215* | Nonsense | 4/4 | - | 1 |
12-49579507-ACG-TCA | c.640_642delinsTGA | p.R214* | Nonsense | 4/4 | - | 1 |
12-49579507-A-C | c.642T>G | p.R214= | Synonymous | 4/4 | - | 1 |
12-49579507-A-T | c.642T>A | p.R214= | Synonymous | 4/4 | - | 1 |
12-49579508-CG-AT | c.640_641delinsAT | p.R214I | Missense | 4/4 | - | 1 |
12-49579508-CG-GT | c.640_641delinsAC | p.R214T | Missense | 4/4 | - | 1 |
12-49579508-C-A | c.641G>T | p.R214L | Missense | 4/4 | - | 1 |
12-49579508-C-G | c.641G>C | p.R214P | Missense | 4/4 | - | 1 |
12-49579508-C-T | c.641G>A | p.R214H | Missense | 4/4 | - | 9 |
12-49579509-G-C | c.640C>G | p.R214G | Missense | 4/4 | - | 1 |
12-49579509-G-T | c.640C>A | p.R214S | Missense | 4/4 | - | 1 |
12-49579509-G-A | c.640C>T | p.R214C | Missense | 4/4 | - | 1 |
12-49579510-A-C | c.639T>G | p.C213W | Missense | 4/4 | - | 1 |
12-49579511-C-G | c.638G>C | p.C213S | Missense | 4/4 | - | 1 |
12-49579511-C-A | c.638G>T | p.C213F | Missense | 4/4 | - | 1 |
12-49579511-C-T | c.638G>A | p.C213Y | Missense | 4/4 | - | 1 |
12-49579512-A-C | c.637T>G | p.C213G | Missense | 4/4 | - | 1 |
12-49579512-A-G | c.637T>C | p.C213R | Missense | 4/4 | - | 1 |
12-49579512-A-T | c.637T>A | p.C213S | Missense | 4/4 | - | 1 |
12-49579513-G-C | c.636C>G | p.I212M | Missense | 4/4 | - | 1 |
12-49579514-A-C | c.635T>G | p.I212S | Missense | 4/4 | - | 1 |
12-49579514-A-G | c.635T>C | p.I212T | Missense | 4/4 | - | 1 |
12-49579514-A-T | c.635T>A | p.I212N | Missense | 4/4 | - | 1 |
12-49579515-T-A | c.634A>T | p.I212F | Missense | 4/4 | - | 1 |
12-49579515-T-C | c.634A>G | p.I212V | Missense | 4/4 | - | 1 |
12-49579515-T-G | c.634A>C | p.I212L | Missense | 4/4 | - | 1 |
12-49579516-G-C | c.633C>G | p.D211E | Missense | 4/4 | - | 1 |
12-49579516-G-T | c.633C>A | p.D211E | Missense | 4/4 | - | 1 |
12-49579517-T-A | c.632A>T | p.D211V | Missense | 4/4 | - | 1 |
12-49579517-T-C | c.632A>G | p.D211G | Missense | 4/4 | - | 1 |
12-49579517-T-G | c.632A>C | p.D211A | Missense | 4/4 | - | 1 |
12-49579518-C-A | c.631G>T | p.D211Y | Missense | 4/4 | - | 1 |
12-49579518-C-G | c.631G>C | p.D211H | Missense | 4/4 | - | 1 |
12-49579518-C-T | c.631G>A | p.D211N | Missense | 4/4 | - | 1 |
12-49579519-A-C | c.630T>G | p.Y210* | Nonsense | 4/4 | - | 1 |
12-49579519-A-T | c.630T>A | p.Y210* | Nonsense | 4/4 | - | 1 |
12-49579520-T-A | c.629A>T | p.Y210F | Missense | 4/4 | - | 1 |
12-49579520-T-C | c.629A>G | p.Y210C | Missense | 4/4 | - | 4 |
12-49579520-T-G | c.629A>C | p.Y210S | Missense | 4/4 | - | 1 |
12-49579521-A-C | c.628T>G | p.Y210D | Missense | 4/4 | - | 1 |
12-49579521-A-T | c.628T>A | p.Y210N | Missense | 4/4 | - | 1 |
12-49579521-A-G | c.628T>C | p.Y210H | Missense | 4/4 | - | 1 |
12-49579522-G-C | c.627C>G | p.I209M | Missense | 4/4 | - | 1 |
12-49579523-A-C | c.626T>G | p.I209S | Missense | 4/4 | - | 1 |
12-49579523-A-G | c.626T>C | p.I209T | Missense | 4/4 | - | 1 |
12-49579523-A-T | c.626T>A | p.I209N | Missense | 4/4 | - | 1 |
12-49579524-T-A | c.625A>T | p.I209F | Missense | 4/4 | - | 1 |
12-49579524-T-C | c.625A>G | p.I209V | Missense | 4/4 | - | 1 |
12-49579524-T-G | c.625A>C | p.I209L | Missense | 4/4 | - | 1 |
12-49579526-G-A | c.623C>T | p.A208V | Missense | 4/4 | - | 1 |
12-49579526-G-C | c.623C>G | p.A208G | Missense | 4/4 | - | 1 |
12-49579526-G-T | c.623C>A | p.A208D | Missense | 4/4 | - | 1 |
12-49579527-C-A | c.622G>T | p.A208S | Missense | 4/4 | - | 1 |
12-49579527-C-G | c.622G>C | p.A208P | Missense | 4/4 | - | 1 |
12-49579527-C-T | c.622G>A | p.A208T | Missense | 4/4 | - | 1 |
12-49579528-C-A | c.621G>T | p.E207D | Missense | 4/4 | - | 1 |
12-49579528-C-G | c.621G>C | p.E207D | Missense | 4/4 | - | 1 |
12-49579529-T-A | c.620A>T | p.E207V | Missense | 4/4 | - | 1 |
12-49579529-T-C | c.620A>G | p.E207G | Missense | 4/4 | - | 1 |
12-49579529-T-G | c.620A>C | p.E207A | Missense | 4/4 | - | 1 |
12-49579530-C-G | c.619G>C | p.E207Q | Missense | 4/4 | - | 1 |
12-49579530-C-T | c.619G>A | p.E207K | Missense | 4/4 | - | 1 |
12-49579531-A-C | c.618T>G | p.N206K | Missense | 4/4 | - | 1 |
12-49579531-A-T | c.618T>A | p.N206K | Missense | 4/4 | - | 1 |
12-49579532-T-A | c.617A>T | p.N206I | Missense | 4/4 | - | 1 |
12-49579532-T-G | c.617A>C | p.N206T | Missense | 4/4 | - | 1 |
12-49579532-T-C | c.617A>G | p.N206S | Missense | 4/4 | - | 1 |
12-49579533-T-A | c.616A>T | p.N206Y | Missense | 4/4 | - | 1 |
12-49579533-T-C | c.616A>G | p.N206D | Missense | 4/4 | - | 1 |
12-49579533-T-G | c.616A>C | p.N206H | Missense | 4/4 | - | 1 |
12-49579534-G-C | c.615C>G | p.D205E | Missense | 4/4 | - | 1 |
12-49579534-G-T | c.615C>A | p.D205E | Missense | 4/4 | - | 1 |
12-49579535-T-A | c.614A>T | p.D205V | Missense | 4/4 | - | 2 |
12-49579535-T-C | c.614A>G | p.D205G | Missense | 4/4 | - | 1 |
12-49579535-T-G | c.614A>C | p.D205A | Missense | 4/4 | - | 1 |
12-49579536-C-A | c.613G>T | p.D205Y | Missense | 4/4 | - | 1 |
12-49579536-C-G | c.613G>C | p.D205H | Missense | 4/4 | - | 1 |
12-49579536-C-T | c.613G>A | p.D205N | Missense | 4/4 | - | 1 |
12-49579538-A-C | c.611T>G | p.V204G | Missense | 4/4 | - | 1 |
12-49579538-A-G | c.611T>C | p.V204A | Missense | 4/4 | - | 1 |
12-49579538-A-T | c.611T>A | p.V204E | Missense | 4/4 | - | 1 |
12-49579539-C-A | c.610G>T | p.V204L | Missense | 4/4 | - | 1 |
12-49579539-C-G | c.610G>C | p.V204L | Missense | 4/4 | - | 1 |
12-49579539-C-T | c.610G>A | p.V204I | Missense | 4/4 | - | 1 |
12-49579540-C-A | c.609G>T | p.M203I | Missense | 4/4 | - | 1 |
12-49579540-C-G | c.609G>C | p.M203I | Missense | 4/4 | - | 1 |
12-49579540-C-T | c.609G>A | p.M203I | Missense | 4/4 | - | 1 |
12-49579541-A-C | c.608T>G | p.M203R | Missense | 4/4 | - | 1 |
12-49579541-A-G | c.608T>C | p.M203T | Missense | 4/4 | - | 1 |
12-49579541-A-T | c.608T>A | p.M203K | Missense | 4/4 | - | 1 |
12-49579542-T-A | c.607A>T | p.M203L | Missense | 4/4 | - | 1 |
12-49579542-T-G | c.607A>C | p.M203L | Missense | 4/4 | - | 1 |
12-49579542-T-C | c.607A>G | p.M203V | Missense | 4/4 | - | 1 |
12-49579543-G-C | c.606C>G | p.F202L | Missense | 4/4 | - | 1 |
12-49579543-G-T | c.606C>A | p.F202L | Missense | 4/4 | - | 1 |
12-49579544-A-C | c.605T>G | p.F202C | Missense | 4/4 | - | 1 |
12-49579544-A-G | c.605T>C | p.F202S | Missense | 4/4 | - | 1 |
12-49579544-A-T | c.605T>A | p.F202Y | Missense | 4/4 | - | 1 |
12-49579545-A-C | c.604T>G | p.F202V | Missense | 4/4 | - | 1 |
12-49579545-A-G | c.604T>C | p.F202L | Missense | 4/4 | - | 1 |
12-49579545-A-T | c.604T>A | p.F202I | Missense | 4/4 | - | 1 |
12-49579547-G-A | c.602C>T | p.A201V | Missense | 4/4 | - | 1 |
12-49579547-G-C | c.602C>G | p.A201G | Missense | 4/4 | - | 1 |
12-49579547-G-T | c.602C>A | p.A201D | Missense | 4/4 | - | 1 |
12-49579548-C-A | c.601G>T | p.A201S | Missense | 4/4 | - | 1 |
12-49579548-C-G | c.601G>C | p.A201P | Missense | 4/4 | - | 1 |
12-49579548-C-T | c.601G>A | p.A201T | Missense | 4/4 | - | 1 |
12-49579549-A-C | c.600T>G | p.C200W | Missense | 4/4 | - | 1 |
12-49579550-C-G | c.599G>C | p.C200S | Missense | 4/4 | - | 1 |
12-49579550-C-A | c.599G>T | p.C200F | Missense | 4/4 | - | 1 |
12-49579550-C-T | c.599G>A | p.C200Y | Missense | 4/4 | - | 3 |
12-49579551-A-G | c.598T>C | p.C200R | Missense | 4/4 | - | 2 |
12-49579551-A-C | c.598T>G | p.C200G | Missense | 4/4 | - | 1 |
12-49579551-A-T | c.598T>A | p.C200S | Missense | 4/4 | - | 1 |
12-49579552-A-C | c.597T>G | p.D199E | Missense | 4/4 | - | 1 |
12-49579552-A-T | c.597T>A | p.D199E | Missense | 4/4 | - | 1 |
12-49579553-T-A | c.596A>T | p.D199V | Missense | 4/4 | - | 1 |
12-49579553-T-C | c.596A>G | p.D199G | Missense | 4/4 | - | 1 |
12-49579553-T-G | c.596A>C | p.D199A | Missense | 4/4 | - | 1 |
12-49579554-C-A | c.595G>T | p.D199Y | Missense | 4/4 | - | 1 |
12-49579554-C-G | c.595G>C | p.D199H | Missense | 4/4 | - | 1 |
12-49579554-C-T | c.595G>A | p.D199N | Missense | 4/4 | - | 1 |
12-49579556-G-A | c.593C>T | p.S198F | Missense | 4/4 | - | 1 |
12-49579556-G-C | c.593C>G | p.S198C | Missense | 4/4 | - | 1 |
12-49579556-G-T | c.593C>A | p.S198Y | Missense | 4/4 | - | 1 |
12-49579557-A-C | c.592T>G | p.S198A | Missense | 4/4 | - | 1 |
12-49579557-A-G | c.592T>C | p.S198P | Missense | 4/4 | - | 1 |
12-49579557-A-T | c.592T>A | p.S198T | Missense | 4/4 | - | 1 |
12-49579558-G-C | c.591C>G | p.H197Q | Missense | 4/4 | - | 1 |
12-49579558-G-T | c.591C>A | p.H197Q | Missense | 4/4 | - | 1 |
12-49579559-T-A | c.590A>T | p.H197L | Missense | 4/4 | - | 1 |
12-49579559-T-C | c.590A>G | p.H197R | Missense | 4/4 | - | 1 |
12-49579559-T-G | c.590A>C | p.H197P | Missense | 4/4 | - | 1 |
12-49579560-G-A | c.589C>T | p.H197Y | Missense | 4/4 | - | 1 |
12-49579560-G-C | c.589C>G | p.H197D | Missense | 4/4 | - | 1 |
12-49579560-G-T | c.589C>A | p.H197N | Missense | 4/4 | - | 1 |
12-49579561-C-A | c.588G>T | p.E196D | Missense | 4/4 | - | 1 |
12-49579561-C-G | c.588G>C | p.E196D | Missense | 4/4 | - | 1 |
12-49579562-T-A | c.587A>T | p.E196V | Missense | 4/4 | - | 1 |
12-49579562-T-C | c.587A>G | p.E196G | Missense | 4/4 | - | 1 |
12-49579562-T-G | c.587A>C | p.E196A | Missense | 4/4 | - | 1 |
12-49579563-C-G | c.586G>C | p.E196Q | Missense | 4/4 | - | 1 |
12-49579563-C-T | c.586G>A | p.E196K | Missense | 4/4 | - | 1 |
12-49579564-CAG-GAT | c.583_585delinsATC | p.L195I | Missense | 4/4 | - | 1 |
12-49579564-CAG-AAA | c.583_585delinsTTT | p.L195F | Missense | 4/4 | - | 1 |
12-49579565-A-C | c.584T>G | p.L195R | Missense | 4/4 | - | 1 |
12-49579565-A-G | c.584T>C | p.L195P | Missense | 4/4 | - | 1 |
12-49579565-A-T | c.584T>A | p.L195Q | Missense | 4/4 | - | 1 |
12-49579565-AG-GA | c.583_584delinsTC | p.L195S | Missense | 4/4 | - | 1 |
12-49579566-G-C | c.583C>G | p.L195V | Missense | 4/4 | - | 1 |
12-49579566-G-T | c.583C>A | p.L195M | Missense | 4/4 | - | 1 |
12-49579568-G-C | c.581C>G | p.T194S | Missense | 4/4 | - | 1 |
12-49579568-G-A | c.581C>T | p.T194I | Missense | 4/4 | - | 1 |
12-49579568-G-T | c.581C>A | p.T194N | Missense | 4/4 | - | 1 |
12-49579569-T-A | c.580A>T | p.T194S | Missense | 4/4 | - | 1 |
12-49579569-T-C | c.580A>G | p.T194A | Missense | 4/4 | - | 1 |
12-49579569-T-G | c.580A>C | p.T194P | Missense | 4/4 | - | 1 |
12-49579571-G-C | c.578C>G | p.T193S | Missense | 4/4 | - | 1 |
12-49579571-G-A | c.578C>T | p.T193I | Missense | 4/4 | - | 1 |
12-49579571-G-T | c.578C>A | p.T193N | Missense | 4/4 | - | 1 |
12-49579572-T-A | c.577A>T | p.T193S | Missense | 4/4 | - | 1 |
12-49579572-T-C | c.577A>G | p.T193A | Missense | 4/4 | - | 1 |
12-49579572-T-G | c.577A>C | p.T193P | Missense | 4/4 | - | 1 |
12-49579573-G-C | c.576C>G | p.H192Q | Missense | 4/4 | - | 1 |
12-49579573-G-T | c.576C>A | p.H192Q | Missense | 4/4 | - | 1 |
12-49579574-T-A | c.575A>T | p.H192L | Missense | 4/4 | - | 1 |
12-49579574-T-C | c.575A>G | p.H192R | Missense | 4/4 | - | 1 |
12-49579574-T-G | c.575A>C | p.H192P | Missense | 4/4 | - | 1 |
12-49579575-G-A | c.574C>T | p.H192Y | Missense | 4/4 | - | 1 |
12-49579575-G-C | c.574C>G | p.H192D | Missense | 4/4 | - | 1 |
12-49579575-G-T | c.574C>A | p.H192N | Missense | 4/4 | - | 1 |
12-49579576-G-C | c.573C>G | p.T191= | Synonymous | 4/4 | - | 1 |
12-49579576-G-T | c.573C>A | p.T191= | Synonymous | 4/4 | - | 1 |
12-49579577-G-C | c.572C>G | p.T191S | Missense | 4/4 | - | 1 |
12-49579577-G-T | c.572C>A | p.T191N | Missense | 4/4 | - | 1 |
12-49579577-G-A | c.572C>T | p.T191I | Missense | 4/4 | - | 1 |
12-49579578-T-A | c.571A>T | p.T191S | Missense | 4/4 | - | 1 |
12-49579578-T-C | c.571A>G | p.T191A | Missense | 4/4 | - | 1 |
12-49579578-T-G | c.571A>C | p.T191P | Missense | 4/4 | - | 1 |
12-49579580-G-C | c.569C>G | p.T190S | Missense | 4/4 | - | 1 |
12-49579580-G-A | c.569C>T | p.T190I | Missense | 4/4 | - | 1 |
12-49579580-G-T | c.569C>A | p.T190N | Missense | 4/4 | - | 1 |
12-49579581-T-A | c.568A>T | p.T190S | Missense | 4/4 | - | 1 |
12-49579581-T-C | c.568A>G | p.T190A | Missense | 4/4 | - | 1 |
12-49579581-T-G | c.568A>C | p.T190P | Missense | 4/4 | - | 1 |
12-49579583-A-C | c.566T>G | p.L189R | Missense | 4/4 | - | 1 |
12-49579583-A-G | c.566T>C | p.L189P | Missense | 4/4 | - | 1 |
12-49579583-A-T | c.566T>A | p.L189H | Missense | 4/4 | - | 1 |
12-49579584-G-A | c.565C>T | p.L189F | Missense | 4/4 | - | 1 |
12-49579584-G-C | c.565C>G | p.L189V | Missense | 4/4 | - | 2 |
12-49579584-G-T | c.565C>A | p.L189I | Missense | 4/4 | - | 1 |
12-49579585-G-C | c.564C>G | p.I188M | Missense | 4/4 | - | 1 |
12-49579586-A-C | c.563T>G | p.I188S | Missense | 4/4 | - | 1 |
12-49579586-A-G | c.563T>C | p.I188T | Missense | 4/4 | - | 1 |
12-49579586-A-T | c.563T>A | p.I188N | Missense | 4/4 | - | 1 |
12-49579587-T-G | c.562A>C | p.I188L | Missense | 4/4 | - | 5 |
12-49579587-T-A | c.562A>T | p.I188F | Missense | 4/4 | - | 1 |
12-49579587-T-C | c.562A>G | p.I188V | Missense | 4/4 | - | 1 |
12-49579589-G-A | c.560C>T | p.S187F | Missense | 4/4 | - | 1 |
12-49579589-G-C | c.560C>G | p.S187C | Missense | 4/4 | - | 1 |
12-49579589-G-T | c.560C>A | p.S187Y | Missense | 4/4 | - | 1 |
12-49579590-A-C | c.559T>G | p.S187A | Missense | 4/4 | - | 1 |
12-49579590-A-G | c.559T>C | p.S187P | Missense | 4/4 | - | 1 |
12-49579590-A-T | c.559T>A | p.S187T | Missense | 4/4 | - | 1 |
12-49579591-G-C | c.558C>G | p.N186K | Missense | 4/4 | - | 1 |
12-49579591-G-T | c.558C>A | p.N186K | Missense | 4/4 | - | 1 |
12-49579592-T-A | c.557A>T | p.N186I | Missense | 4/4 | - | 1 |
12-49579592-T-C | c.557A>G | p.N186S | Missense | 4/4 | - | 1 |
12-49579592-T-G | c.557A>C | p.N186T | Missense | 4/4 | - | 1 |
12-49579593-T-A | c.556A>T | p.N186Y | Missense | 4/4 | - | 1 |
12-49579593-T-C | c.556A>G | p.N186D | Missense | 4/4 | - | 1 |
12-49579593-T-G | c.556A>C | p.N186H | Missense | 4/4 | - | 1 |
12-49579595-T-A | c.554A>T | p.Y185F | Missense | 4/4 | - | 1 |
12-49579595-T-C | c.554A>G | p.Y185C | Missense | 4/4 | - | 1 |
12-49579595-T-G | c.554A>C | p.Y185S | Missense | 4/4 | - | 1 |
12-49579596-A-C | c.553T>G | p.Y185D | Missense | 4/4 | - | 1 |
12-49579596-A-G | c.553T>C | p.Y185H | Missense | 4/4 | - | 1 |
12-49579596-A-T | c.553T>A | p.Y185N | Missense | 4/4 | - | 1 |
12-49579598-G-A | c.551C>T | p.P184L | Missense | 4/4 | - | 1 |
12-49579598-G-C | c.551C>G | p.P184R | Missense | 4/4 | - | 1 |
12-49579598-G-T | c.551C>A | p.P184H | Missense | 4/4 | - | 1 |
12-49579599-G-A | c.550C>T | p.P184S | Missense | 4/4 | - | 1 |
12-49579599-G-C | c.550C>G | p.P184A | Missense | 4/4 | - | 1 |
12-49579599-G-T | c.550C>A | p.P184T | Missense | 4/4 | - | 1 |
12-49579600-C-A | c.549G>T | p.E183D | Missense | 4/4 | - | 1 |
12-49579600-C-G | c.549G>C | p.E183D | Missense | 4/4 | - | 1 |
12-49579601-T-A | c.548A>T | p.E183V | Missense | 4/4 | - | 1 |
12-49579601-T-C | c.548A>G | p.E183G | Missense | 4/4 | - | 1 |
12-49579601-T-G | c.548A>C | p.E183A | Missense | 4/4 | - | 1 |
12-49579602-C-G | c.547G>C | p.E183Q | Missense | 4/4 | - | 1 |
12-49579602-C-T | c.547G>A | p.E183K | Missense | 4/4 | - | 1 |
12-49579602-C-A | c.547G>T | p.E183* | Nonsense | 4/4 | - | 1 |
12-49579604-A-C | c.545T>G | p.V182G | Missense | 4/4 | - | 1 |
12-49579604-A-G | c.545T>C | p.V182A | Missense | 4/4 | - | 1 |
12-49579604-A-T | c.545T>A | p.V182D | Missense | 4/4 | - | 1 |
12-49579605-C-A | c.544G>T | p.V182F | Missense | 4/4 | - | 1 |
12-49579605-C-G | c.544G>C | p.V182L | Missense | 4/4 | - | 1 |
12-49579605-C-T | c.544G>A | p.V182I | Missense | 4/4 | - | 1 |
12-49579607-A-C | c.542T>G | p.V181G | Missense | 4/4 | - | 1 |
12-49579607-A-G | c.542T>C | p.V181A | Missense | 4/4 | - | 1 |
12-49579607-A-T | c.542T>A | p.V181E | Missense | 4/4 | - | 1 |
12-49579608-C-A | c.541G>T | p.V181L | Missense | 4/4 | - | 1 |
12-49579608-C-G | c.541G>C | p.V181L | Missense | 4/4 | - | 1 |
12-49579608-C-T | c.541G>A | p.V181I | Missense | 4/4 | - | 1 |
12-49579610-G-C | c.539C>G | p.A180G | Missense | 4/4 | - | 1 |
12-49579610-G-A | c.539C>T | p.A180V | Missense | 4/4 | - | 1 |
12-49579610-G-T | c.539C>A | p.A180D | Missense | 4/4 | - | 1 |
12-49579611-C-A | c.538G>T | p.A180S | Missense | 4/4 | - | 1 |
12-49579611-C-G | c.538G>C | p.A180P | Missense | 4/4 | - | 1 |
12-49579611-C-T | c.538G>A | p.A180T | Missense | 4/4 | - | 1 |
12-49579613-G-T | c.536C>A | p.T179K | Missense | 4/4 | - | 1 |
12-49579613-G-C | c.536C>G | p.T179R | Missense | 4/4 | - | 1 |
12-49579614-T-A | c.535A>T | p.T179S | Missense | 4/4 | - | 1 |
12-49579614-T-C | c.535A>G | p.T179A | Missense | 4/4 | - | 1 |
12-49579614-T-G | c.535A>C | p.T179P | Missense | 4/4 | - | 1 |
12-49579616-G-A | c.533C>T | p.S178F | Missense | 4/4 | - | 1 |
12-49579616-G-C | c.533C>G | p.S178C | Missense | 4/4 | - | 1 |
12-49579616-G-T | c.533C>A | p.S178Y | Missense | 4/4 | - | 1 |
12-49579617-A-C | c.532T>G | p.S178A | Missense | 4/4 | - | 1 |
12-49579617-A-G | c.532T>C | p.S178P | Missense | 4/4 | - | 1 |
12-49579617-A-T | c.532T>A | p.S178T | Missense | 4/4 | - | 1 |
12-49579619-A-C | c.530T>G | p.V177G | Missense | 4/4 | - | 1 |
12-49579619-A-G | c.530T>C | p.V177A | Missense | 4/4 | - | 1 |
12-49579619-A-T | c.530T>A | p.V177D | Missense | 4/4 | - | 1 |
12-49579620-C-A | c.529G>T | p.V177F | Missense | 4/4 | - | 1 |
12-49579620-C-G | c.529G>C | p.V177L | Missense | 4/4 | - | 1 |
12-49579620-C-T | c.529G>A | p.V177I | Missense | 4/4 | - | 1 |
12-49579621-C-A | c.528G>T | p.Q176H | Missense | 4/4 | - | 1 |
12-49579621-C-G | c.528G>C | p.Q176H | Missense | 4/4 | - | 1 |
12-49579622-T-A | c.527A>T | p.Q176L | Missense | 4/4 | - | 1 |
12-49579622-T-C | c.527A>G | p.Q176R | Missense | 4/4 | - | 1 |
12-49579622-T-G | c.527A>C | p.Q176P | Missense | 4/4 | - | 1 |
12-49579623-G-C | c.526C>G | p.Q176E | Missense | 4/4 | - | 1 |
12-49579623-G-T | c.526C>A | p.Q176K | Missense | 4/4 | - | 1 |
12-49579625-G-A | c.524C>T | p.P175L | Missense | 4/4 | - | 1 |
12-49579625-G-C | c.524C>G | p.P175R | Missense | 4/4 | - | 1 |
12-49579625-G-T | c.524C>A | p.P175H | Missense | 4/4 | - | 1 |
12-49579626-G-A | c.523C>T | p.P175S | Missense | 4/4 | - | 1 |
12-49579626-G-C | c.523C>G | p.P175A | Missense | 4/4 | - | 1 |
12-49579626-G-T | c.523C>A | p.P175T | Missense | 4/4 | - | 1 |
12-49579628-G-A | c.521C>T | p.A174V | Missense | 4/4 | - | 1 |
12-49579628-G-C | c.521C>G | p.A174G | Missense | 4/4 | - | 1 |
12-49579628-G-T | c.521C>A | p.A174E | Missense | 4/4 | - | 1 |
12-49579629-C-A | c.520G>T | p.A174S | Missense | 4/4 | - | 1 |
12-49579629-C-G | c.520G>C | p.A174P | Missense | 4/4 | - | 1 |
12-49579629-C-T | c.520G>A | p.A174T | Missense | 4/4 | - | 1 |
12-49579631-G-A | c.518C>T | p.P173L | Missense | 4/4 | - | 5 |
12-49579631-G-C | c.518C>G | p.P173R | Missense | 4/4 | - | 1 |
12-49579631-G-T | c.518C>A | p.P173Q | Missense | 4/4 | - | 1 |
12-49579632-G-A | c.517C>T | p.P173S | Missense | 4/4 | - | 1 |
12-49579632-G-C | c.517C>G | p.P173A | Missense | 4/4 | - | 1 |
12-49579632-G-T | c.517C>A | p.P173T | Missense | 4/4 | - | 1 |
12-49579634-T-A | c.515A>T | p.Y172F | Missense | 4/4 | - | 1 |
12-49579634-T-C | c.515A>G | p.Y172C | Missense | 4/4 | - | 1 |
12-49579634-T-G | c.515A>C | p.Y172S | Missense | 4/4 | - | 1 |
12-49579635-A-C | c.514T>G | p.Y172D | Missense | 4/4 | - | 1 |
12-49579635-A-G | c.514T>C | p.Y172H | Missense | 4/4 | - | 1 |
12-49579635-A-T | c.514T>A | p.Y172N | Missense | 4/4 | - | 1 |
12-49579636-A-C | c.513T>G | p.I171M | Missense | 4/4 | - | 1 |
12-49579636-A-T | c.513T>A | p.I171= | Synonymous | 4/4 | - | 1 |
12-49579637-A-C | c.512T>G | p.I171S | Missense | 4/4 | - | 1 |
12-49579637-A-G | c.512T>C | p.I171T | Missense | 4/4 | - | 1 |
12-49579637-A-T | c.512T>A | p.I171N | Missense | 4/4 | - | 1 |
12-49579638-T-A | c.511A>T | p.I171F | Missense | 4/4 | - | 1 |
12-49579638-T-C | c.511A>G | p.I171V | Missense | 4/4 | - | 1 |
12-49579638-T-G | c.511A>C | p.I171L | Missense | 4/4 | - | 1 |
12-49579640-G-A | c.509C>T | p.S170F | Missense | 4/4 | - | 1 |
12-49579640-G-C | c.509C>G | p.S170C | Missense | 4/4 | - | 1 |
12-49579640-G-T | c.509C>A | p.S170Y | Missense | 4/4 | - | 1 |
12-49579641-A-C | c.508T>G | p.S170A | Missense | 4/4 | - | 1 |
12-49579641-A-G | c.508T>C | p.S170P | Missense | 4/4 | - | 1 |
12-49579641-A-T | c.508T>A | p.S170T | Missense | 4/4 | - | 1 |
12-49579642-G-C | c.507C>G | p.F169L | Missense | 4/4 | - | 1 |
12-49579642-G-T | c.507C>A | p.F169L | Missense | 4/4 | - | 1 |
12-49579643-A-C | c.506T>G | p.F169C | Missense | 4/4 | - | 1 |
12-49579643-A-G | c.506T>C | p.F169S | Missense | 4/4 | - | 1 |
12-49579643-A-T | c.506T>A | p.F169Y | Missense | 4/4 | - | 1 |
12-49579644-A-C | c.505T>G | p.F169V | Missense | 4/4 | - | 1 |
12-49579644-A-G | c.505T>C | p.F169L | Missense | 4/4 | - | 1 |
12-49579644-A-T | c.505T>A | p.F169I | Missense | 4/4 | - | 1 |
12-49579645-C-A | c.504G>T | p.E168D | Missense | 4/4 | - | 1 |
12-49579645-C-G | c.504G>C | p.E168D | Missense | 4/4 | - | 1 |
12-49579645-C-T | c.504G>A | p.E168= | Synonymous | 4/4 | - | 1 |
12-49579646-T-A | c.503A>T | p.E168V | Missense | 4/4 | - | 1 |
12-49579646-T-C | c.503A>G | p.E168G | Missense | 4/4 | - | 1 |
12-49579646-T-G | c.503A>C | p.E168A | Missense | 4/4 | - | 1 |
12-49579647-C-G | c.502G>C | p.E168Q | Missense | 4/4 | - | 1 |
12-49579647-C-T | c.502G>A | p.E168K | Missense | 4/4 | - | 1 |
12-49579649-A-C | c.500T>G | p.L167R | Missense | 4/4 | - | 1 |
12-49579649-A-G | c.500T>C | p.L167P | Missense | 4/4 | - | 1 |
12-49579649-A-T | c.500T>A | p.L167Q | Missense | 4/4 | - | 1 |
12-49579650-G-C | c.499C>G | p.L167V | Missense | 4/4 | - | 1 |
12-49579650-G-T | c.499C>A | p.L167M | Missense | 4/4 | - | 1 |
12-49579651-C-A | c.498G>T | p.K166N | Missense | 4/4 | - | 1 |
12-49579651-C-G | c.498G>C | p.K166N | Missense | 4/4 | - | 1 |
12-49579652-T-A | c.497A>T | p.K166M | Missense | 4/4 | - | 1 |
12-49579652-T-C | c.497A>G | p.K166R | Missense | 4/4 | - | 1 |
12-49579652-T-G | c.497A>C | p.K166T | Missense | 4/4 | - | 1 |
12-49579653-T-C | c.496A>G | p.K166E | Missense | 4/4 | - | 1 |
12-49579653-T-G | c.496A>C | p.K166Q | Missense | 4/4 | - | 1 |
12-49579654-GG-TT | c.494_495delinsAA | p.S165* | Nonsense | 4/4 | - | 1 |
12-49579655-G-A | c.494C>T | p.S165F | Missense | 4/4 | - | 1 |
12-49579655-G-C | c.494C>G | p.S165C | Missense | 4/4 | - | 1 |
12-49579655-G-T | c.494C>A | p.S165Y | Missense | 4/4 | - | 1 |
12-49579656-A-C | c.493T>G | p.S165A | Missense | 4/4 | - | 1 |
12-49579656-A-G | c.493T>C | p.S165P | Missense | 4/4 | - | 1 |
12-49579656-A-T | c.493T>A | p.S165T | Missense | 4/4 | - | 1 |
12-49579657-C-A | c.492G>T | p.K164N | Missense | 4/4 | - | 1 |
12-49579657-C-G | c.492G>C | p.K164N | Missense | 4/4 | - | 1 |
12-49579657-C-T | c.492G>A | p.K164= | Synonymous | 4/4 | - | 1 |
12-49579658-T-A | c.491A>T | p.K164M | Missense | 4/4 | - | 1 |
12-49579658-T-C | c.491A>G | p.K164R | Missense | 4/4 | - | 1 |
12-49579658-T-G | c.491A>C | p.K164T | Missense | 4/4 | - | 1 |
12-49579659-T-C | c.490A>G | p.K164E | Missense | 4/4 | - | 1 |
12-49579659-T-G | c.490A>C | p.K164Q | Missense | 4/4 | - | 1 |
12-49579660-C-A | c.489G>T | p.K163N | Missense | 4/4 | - | 1 |
12-49579660-C-G | c.489G>C | p.K163N | Missense | 4/4 | - | 1 |
12-49579661-T-A | c.488A>T | p.K163M | Missense | 4/4 | - | 1 |
12-49579661-T-C | c.488A>G | p.K163R | Missense | 4/4 | - | 1 |
12-49579661-T-G | c.488A>C | p.K163T | Missense | 4/4 | - | 1 |
12-49579662-T-C | c.487A>G | p.K163E | Missense | 4/4 | - | 1 |
12-49579662-T-G | c.487A>C | p.K163Q | Missense | 4/4 | - | 1 |
12-49579663-G-C | c.486C>G | p.G162= | Synonymous | 4/4 | - | 1 |
12-49579663-G-T | c.486C>A | p.G162= | Synonymous | 4/4 | - | 1 |
12-49579664-C-A | c.485G>T | p.G162V | Missense | 4/4 | - | 1 |
12-49579664-C-G | c.485G>C | p.G162A | Missense | 4/4 | - | 1 |
12-49579664-C-T | c.485G>A | p.G162D | Missense | 4/4 | - | 1 |
12-49579665-C-A | c.484G>T | p.G162C | Missense | 4/4 | - | 1 |
12-49579665-C-G | c.484G>C | p.G162R | Missense | 4/4 | - | 1 |
12-49579665-C-T | c.484G>A | p.G162S | Missense | 4/4 | - | 1 |
12-49579667-T-A | c.482A>T | p.Y161F | Missense | 4/4 | - | 1 |
12-49579667-T-C | c.482A>G | p.Y161C | Missense | 4/4 | - | 1 |
12-49579667-T-G | c.482A>C | p.Y161S | Missense | 4/4 | - | 1 |
12-49579668-A-C | c.481T>G | p.Y161D | Missense | 4/4 | - | 1 |
12-49579668-A-G | c.481T>C | p.Y161H | Missense | 4/4 | - | 4 |
12-49579668-A-T | c.481T>A | p.Y161N | Missense | 4/4 | - | 1 |
12-49579669-A-C | c.480T>G | p.D160E | Missense | 4/4 | - | 1 |
12-49579669-A-T | c.480T>A | p.D160E | Missense | 4/4 | - | 1 |
12-49579670-T-A | c.479A>T | p.D160V | Missense | 4/4 | - | 1 |
12-49579670-T-C | c.479A>G | p.D160G | Missense | 4/4 | - | 1 |
12-49579670-T-G | c.479A>C | p.D160A | Missense | 4/4 | - | 1 |
12-49579671-C-A | c.478G>T | p.D160Y | Missense | 4/4 | - | 1 |
12-49579671-C-G | c.478G>C | p.D160H | Missense | 4/4 | - | 1 |
12-49579671-C-T | c.478G>A | p.D160N | Missense | 4/4 | - | 1 |
12-49579673-A-C | c.476T>G | p.V159G | Missense | 4/4 | - | 1 |
12-49579673-A-G | c.476T>C | p.V159A | Missense | 4/4 | - | 1 |
12-49579673-A-T | c.476T>A | p.V159D | Missense | 4/4 | - | 1 |
12-49579674-C-A | c.475G>T | p.V159F | Missense | 4/4 | - | 1 |
12-49579674-C-G | c.475G>C | p.V159L | Missense | 4/4 | - | 1 |
12-49579674-C-T | c.475G>A | p.V159I | Missense | 4/4 | - | 1 |
12-49579676-G-A | c.473C>T | p.S158L | Missense | 4/4 | - | 4 |
12-49579676-G-C | c.473C>G | p.S158* | Nonsense | 4/4 | - | 1 |
12-49579676-G-T | c.473C>A | p.S158* | Nonsense | 4/4 | - | 1 |
12-49579677-A-C | c.472T>G | p.S158A | Missense | 4/4 | - | 1 |
12-49579677-A-G | c.472T>C | p.S158P | Missense | 4/4 | - | 1 |
12-49579677-A-T | c.472T>A | p.S158T | Missense | 4/4 | - | 1 |
12-49579678-G-C | c.471C>G | p.L157= | Synonymous | 4/4 | - | 1 |
12-49579678-G-T | c.471C>A | p.L157= | Synonymous | 4/4 | - | 1 |
12-49579679-A-C | c.470T>G | p.L157R | Missense | 4/4 | - | 1 |
12-49579679-A-G | c.470T>C | p.L157P | Missense | 4/4 | - | 1 |
12-49579679-A-T | c.470T>A | p.L157H | Missense | 4/4 | - | 1 |
12-49579680-G-A | c.469C>T | p.L157F | Missense | 4/4 | - | 1 |
12-49579680-G-C | c.469C>G | p.L157V | Missense | 4/4 | - | 1 |
12-49579680-G-T | c.469C>A | p.L157I | Missense | 4/4 | - | 1 |
12-49579682-C-A | c.467G>T | p.R156L | Missense | 4/4 | - | 1 |
12-49579682-C-G | c.467G>C | p.R156P | Missense | 4/4 | - | 1 |
12-49579682-C-T | c.467G>A | p.R156H | Missense | 4/4 | - | 1 |
12-49579683-G-A | c.466C>T | p.R156C | Missense | 4/4 | - | 1 |
12-49579683-G-C | c.466C>G | p.R156G | Missense | 4/4 | - | 2 |
12-49579683-G-T | c.466C>A | p.R156S | Missense | 4/4 | - | 1 |
12-49579684-T-A | c.465A>T | p.E155D | Missense | 4/4 | - | 1 |
12-49579684-T-G | c.465A>C | p.E155D | Missense | 4/4 | - | 1 |
12-49579685-T-A | c.464A>T | p.E155V | Missense | 4/4 | - | 1 |
12-49579685-T-C | c.464A>G | p.E155G | Missense | 4/4 | - | 1 |
12-49579685-T-G | c.464A>C | p.E155A | Missense | 4/4 | - | 1 |
12-49579686-C-G | c.463G>C | p.E155Q | Missense | 4/4 | - | 1 |
12-49579686-C-T | c.463G>A | p.E155K | Missense | 4/4 | - | 1 |
12-49579687-C-A | c.462G>T | p.M154I | Missense | 4/4 | - | 1 |
12-49579687-C-G | c.462G>C | p.M154I | Missense | 4/4 | - | 1 |
12-49579687-C-T | c.462G>A | p.M154I | Missense | 4/4 | - | 1 |
12-49579688-A-C | c.461T>G | p.M154R | Missense | 4/4 | - | 1 |
12-49579688-A-G | c.461T>C | p.M154T | Missense | 4/4 | - | 1 |
12-49579688-A-T | c.461T>A | p.M154K | Missense | 4/4 | - | 1 |
12-49579689-T-A | c.460A>T | p.M154L | Missense | 4/4 | - | 1 |
12-49579689-T-G | c.460A>C | p.M154L | Missense | 4/4 | - | 1 |
12-49579689-T-C | c.460A>G | p.M154V | Missense | 4/4 | - | 1 |
12-49579690-G-C | c.459C>G | p.L153= | Synonymous | 4/4 | - | 1 |
12-49579691-A-C | c.458T>G | p.L153R | Missense | 4/4 | - | 1 |
12-49579691-A-G | c.458T>C | p.L153P | Missense | 4/4 | - | 1 |
12-49579691-A-T | c.458T>A | p.L153H | Missense | 4/4 | - | 1 |
12-49579692-G-A | c.457C>T | p.L153F | Missense | 4/4 | - | 1 |
12-49579692-G-C | c.457C>G | p.L153V | Missense | 4/4 | - | 1 |
12-49579694-A-C | c.455T>G | p.L152R | Missense | 4/4 | - | 1 |
12-49579694-A-T | c.455T>A | p.L152Q | Missense | 4/4 | - | 2 |
12-49579694-A-G | c.455T>C | p.L152P | Missense | 4/4 | - | 1 |
12-49579695-G-C | c.454C>G | p.L152V | Missense | 4/4 | - | 1 |
12-49579695-G-T | c.454C>A | p.L152M | Missense | 4/4 | - | 1 |
12-49579696-C-T | c.453G>A | p.S151= | Synonymous | 4/4 | - | 1 |
12-49579697-G-A | c.452C>T | p.S151L | Missense | 4/4 | - | 1 |
12-49579697-G-C | c.452C>G | p.S151W | Missense | 4/4 | - | 1 |
12-49579698-A-C | c.451T>G | p.S151A | Missense | 4/4 | - | 1 |
12-49579698-A-G | c.451T>C | p.S151P | Missense | 4/4 | - | 1 |
12-49579698-A-T | c.451T>A | p.S151T | Missense | 4/4 | - | 1 |
12-49579700-G-A | c.449C>T | p.T150I | Missense | 4/4 | - | 2 |
12-49579700-G-T | c.449C>A | p.T150N | Missense | 4/4 | - | 1 |
12-49579701-T-A | c.448A>T | p.T150S | Missense | 4/4 | - | 1 |
12-49579701-T-C | c.448A>G | p.T150A | Missense | 4/4 | - | 1 |
12-49579701-T-G | c.448A>C | p.T150P | Missense | 4/4 | - | 1 |
12-49579702-G-C | c.447C>G | p.F149L | Missense | 4/4 | - | 1 |
12-49579702-G-T | c.447C>A | p.F149L | Missense | 4/4 | - | 1 |
12-49579703-A-C | c.446T>G | p.F149C | Missense | 4/4 | - | 1 |
12-49579703-A-G | c.446T>C | p.F149S | Missense | 4/4 | - | 1 |
12-49579703-A-T | c.446T>A | p.F149Y | Missense | 4/4 | - | 1 |
12-49579704-A-C | c.445T>G | p.F149V | Missense | 4/4 | - | 1 |
12-49579704-A-G | c.445T>C | p.F149L | Missense | 4/4 | - | 1 |
12-49579704-A-T | c.445T>A | p.F149I | Missense | 4/4 | - | 1 |
12-49579705-C-A | c.444G>T | p.G148= | Synonymous | 4/4 | - | 1 |
12-49579705-C-G | c.444G>C | p.G148= | Synonymous | 4/4 | - | 1 |
12-49579706-C-A | c.443G>T | p.G148V | Missense | 4/4 | - | 1 |
12-49579706-C-G | c.443G>C | p.G148A | Missense | 4/4 | - | 1 |
12-49579706-C-T | c.443G>A | p.G148E | Missense | 4/4 | - | 1 |
12-49579707-C-A | c.442G>T | p.G148W | Missense | 4/4 | - | 1 |
12-49579707-C-G | c.442G>C | p.G148R | Missense | 4/4 | - | 1 |
12-49579707-C-T | c.442G>A | p.G148R | Missense | 4/4 | - | 1 |
12-49579709-G-A | c.440C>T | p.S147F | Missense | 4/4 | - | 1 |
12-49579709-G-C | c.440C>G | p.S147C | Missense | 4/4 | - | 1 |
12-49579709-G-T | c.440C>A | p.S147Y | Missense | 4/4 | - | 1 |
12-49579710-A-C | c.439T>G | p.S147A | Missense | 4/4 | - | 1 |
12-49579710-A-G | c.439T>C | p.S147P | Missense | 4/4 | - | 1 |
12-49579710-A-T | c.439T>A | p.S147T | Missense | 4/4 | - | 1 |
12-49579712-C-A | c.437G>T | p.G146V | Missense | 4/4 | - | 1 |
12-49579712-C-G | c.437G>C | p.G146A | Missense | 4/4 | - | 1 |
12-49579712-C-T | c.437G>A | p.G146D | Missense | 4/4 | - | 1 |
12-49579713-C-A | c.436G>T | p.G146C | Missense | 4/4 | - | 1 |
12-49579713-C-G | c.436G>C | p.G146R | Missense | 4/4 | - | 1 |
12-49579713-C-T | c.436G>A | p.G146S | Missense | 4/4 | - | 1 |
12-49579715-G-C | c.434C>G | p.T145S | Missense | 4/4 | - | 1 |
12-49579715-G-A | c.434C>T | p.T145I | Missense | 4/4 | - | 1 |
12-49579715-G-T | c.434C>A | p.T145N | Missense | 4/4 | - | 1 |
12-49579716-T-C | c.433A>G | p.T145A | Missense | 4/4 | - | 2 |
12-49579716-T-G | c.433A>C | p.T145P | Missense | 4/4 | - | 1 |
12-49579718-C-A | c.431G>T | p.G144V | Missense | 4/4 | - | 1 |
12-49579718-C-G | c.431G>C | p.G144A | Missense | 4/4 | - | 1 |
12-49579718-C-T | c.431G>A | p.G144E | Missense | 4/4 | - | 1 |
12-49579719-C-G | c.430G>C | p.G144R | Missense | 4/4 | - | 1 |
12-49579719-C-T | c.430G>A | p.G144R | Missense | 4/4 | - | 1 |
12-49579721-C-A | c.428G>T | p.G143V | Missense | 4/4 | - | 1 |
12-49579721-C-G | c.428G>C | p.G143A | Missense | 4/4 | - | 1 |
12-49579721-C-T | c.428G>A | p.G143E | Missense | 4/4 | - | 1 |
12-49579722-C-A | c.427G>T | p.G143W | Missense | 4/4 | - | 1 |
12-49579722-C-G | c.427G>C | p.G143R | Missense | 4/4 | - | 1 |
12-49579722-C-T | c.427G>A | p.G143R | Missense | 4/4 | - | 1 |
12-49579724-C-A | c.425G>T | p.G142V | Missense | 4/4 | - | 1 |
12-49579724-C-G | c.425G>C | p.G142A | Missense | 4/4 | - | 1 |
12-49579724-C-T | c.425G>A | p.G142D | Missense | 4/4 | - | 1 |
12-49579725-C-A | c.424G>T | p.G142C | Missense | 4/4 | - | 1 |
12-49579725-C-G | c.424G>C | p.G142R | Missense | 4/4 | - | 1 |
12-49579725-C-T | c.424G>A | p.G142S | Missense | 4/4 | - | 1 |
12-49579726-A-C | c.423T>G | p.F141L | Missense | 4/4 | - | 1 |
12-49579726-A-T | c.423T>A | p.F141L | Missense | 4/4 | - | 1 |
12-49579727-A-C | c.422T>G | p.F141C | Missense | 4/4 | - | 1 |
12-49579727-A-G | c.422T>C | p.F141S | Missense | 4/4 | - | 1 |
12-49579727-A-T | c.422T>A | p.F141Y | Missense | 4/4 | - | 1 |
12-49579728-A-C | c.421T>G | p.F141V | Missense | 4/4 | - | 1 |
12-49579728-A-G | c.421T>C | p.F141L | Missense | 4/4 | - | 1 |
12-49579728-A-T | c.421T>A | p.F141I | Missense | 4/4 | - | 1 |
12-49579730-C-A | c.419G>T | p.S140I | Missense | 4/4 | - | 1 |
12-49579730-C-G | c.419G>C | p.S140T | Missense | 4/4 | - | 1 |
12-49579730-C-T | c.419G>A | p.S140N | Missense | 4/4 | - | 1 |
12-49579731-T-C | c.418A>G | p.S140G | Missense | 4/4 | - | 11 |
12-49579731-T-A | c.418A>T | p.S140C | Missense | 4/4 | - | 1 |
12-49579731-T-G | c.418A>C | p.S140R | Missense | 4/4 | - | 1 |
12-49579732-G-C | c.417C>G | p.H139Q | Missense | 4/4 | - | 1 |
12-49579732-G-T | c.417C>A | p.H139Q | Missense | 4/4 | - | 1 |
12-49579733-T-A | c.416A>T | p.H139L | Missense | 4/4 | - | 1 |
12-49579733-T-C | c.416A>G | p.H139R | Missense | 4/4 | - | 1 |
12-49579733-T-G | c.416A>C | p.H139P | Missense | 4/4 | - | 1 |
12-49579734-G-A | c.415C>T | p.H139Y | Missense | 4/4 | - | 1 |
12-49579734-G-C | c.415C>G | p.H139D | Missense | 4/4 | - | 1 |
12-49579734-G-T | c.415C>A | p.H139N | Missense | 4/4 | - | 1 |
12-49579735-G-C | c.414C>G | p.F138L | Missense | 4/4 | - | 1 |
12-49579735-G-T | c.414C>A | p.F138L | Missense | 4/4 | - | 1 |
12-49579736-A-C | c.413T>G | p.F138C | Missense | 4/4 | - | 1 |
12-49579736-A-G | c.413T>C | p.F138S | Missense | 4/4 | - | 1 |
12-49579736-A-T | c.413T>A | p.F138Y | Missense | 4/4 | - | 1 |
12-49579737-A-C | c.412T>G | p.F138V | Missense | 4/4 | - | 1 |
12-49579737-A-G | c.412T>C | p.F138L | Missense | 4/4 | - | 1 |
12-49579737-A-T | c.412T>A | p.F138I | Missense | 4/4 | - | 1 |
12-49579739-A-C | c.410T>G | p.V137G | Missense | 4/4 | - | 1 |
12-49579739-A-G | c.410T>C | p.V137A | Missense | 4/4 | - | 1 |
12-49579739-A-T | c.410T>A | p.V137D | Missense | 4/4 | - | 3 |
12-49579740-C-A | c.409G>T | p.V137F | Missense | 4/4 | - | 1 |
12-49579740-C-G | c.409G>C | p.V137L | Missense | 4/4 | - | 1 |
12-49579740-C-T | c.409G>A | p.V137I | Missense | 4/4 | - | 1 |
12-49579741-C-A | c.408G>T | p.L136F | Missense | 4/4 | - | 1 |
12-49579741-C-G | c.408G>C | p.L136F | Missense | 4/4 | - | 1 |
12-49579742-A-C | c.407T>G | p.L136W | Missense | 4/4 | - | 1 |
12-49579742-A-G | c.407T>C | p.L136S | Missense | 4/4 | - | 1 |
12-49579743-A-C | c.406T>G | p.L136V | Missense | 4/4 | - | 1 |
12-49579743-A-T | c.406T>A | p.L136M | Missense | 4/4 | - | 1 |
12-49579744-G-C | c.405C>G | p.F135L | Missense | 4/4 | - | 1 |
12-49579744-G-T | c.405C>A | p.F135L | Missense | 4/4 | - | 1 |
12-49579745-A-C | c.404T>G | p.F135C | Missense | 4/4 | - | 1 |
12-49579745-A-G | c.404T>C | p.F135S | Missense | 4/4 | - | 1 |
12-49579745-A-T | c.404T>A | p.F135Y | Missense | 4/4 | - | 1 |
12-49579746-A-C | c.403T>G | p.F135V | Missense | 4/4 | - | 1 |
12-49579746-A-G | c.403T>C | p.F135L | Missense | 4/4 | - | 1 |
12-49579746-A-T | c.403T>A | p.F135I | Missense | 4/4 | - | 1 |
12-49579747-G-T | c.402C>A | p.G134= | Synonymous | 4/4 | - | 1 |
12-49579747-G-C | c.402C>G | p.G134= | Synonymous | 4/4 | - | 1 |
12-49579748-C-A | c.401G>T | p.G134V | Missense | 4/4 | - | 1 |
12-49579748-C-G | c.401G>C | p.G134A | Missense | 4/4 | - | 1 |
12-49579748-C-T | c.401G>A | p.G134D | Missense | 4/4 | - | 1 |
12-49579749-C-A | c.400G>T | p.G134C | Missense | 4/4 | - | 1 |
12-49579749-C-G | c.400G>C | p.G134R | Missense | 4/4 | - | 1 |
12-49579749-C-T | c.400G>A | p.G134S | Missense | 4/4 | - | 1 |
12-49579750-C-A | c.399G>T | p.Q133H | Missense | 4/4 | - | 1 |
12-49579750-C-G | c.399G>C | p.Q133H | Missense | 4/4 | - | 1 |
12-49579751-T-A | c.398A>T | p.Q133L | Missense | 4/4 | - | 1 |
12-49579751-T-C | c.398A>G | p.Q133R | Missense | 4/4 | - | 1 |
12-49579751-T-G | c.398A>C | p.Q133P | Missense | 4/4 | - | 1 |
12-49579752-G-A | c.397C>T | p.Q133* | Nonsense | 4/4 | - | 1 |
12-49579752-G-C | c.397C>G | p.Q133E | Missense | 4/4 | - | 1 |
12-49579752-G-T | c.397C>A | p.Q133K | Missense | 4/4 | - | 1 |
12-49579753-GAG-CAT | c.394_396delinsATG | p.L132M | Missense | 4/4 | - | 1 |
12-49579753-GA-TT | c.395_396delinsAA | p.L132Q | Missense | 4/4 | - | 1 |
12-49579754-A-C | c.395T>G | p.L132R | Missense | 4/4 | - | 1 |
12-49579754-A-G | c.395T>C | p.L132P | Missense | 4/4 | - | 1 |
12-49579754-A-T | c.395T>A | p.L132H | Missense | 4/4 | - | 1 |
12-49579755-G-A | c.394C>T | p.L132F | Missense | 4/4 | - | 1 |
12-49579755-G-C | c.394C>G | p.L132V | Missense | 4/4 | - | 1 |
12-49579755-G-T | c.394C>A | p.L132I | Missense | 4/4 | - | 1 |
12-49579757-C-A | c.392G>T | p.G131V | Missense | 4/4 | - | 1 |
12-49579757-C-G | c.392G>C | p.G131A | Missense | 4/4 | - | 1 |
12-49579757-C-T | c.392G>A | p.G131D | Missense | 4/4 | - | 1 |
12-49579758-C-A | c.391G>T | p.G131C | Missense | 4/4 | - | 1 |
12-49579758-C-G | c.391G>C | p.G131R | Missense | 4/4 | - | 1 |
12-49579758-C-T | c.391G>A | p.G131S | Missense | 4/4 | - | 1 |
12-49579759-C-G | c.390G>C | p.T130= | Synonymous | 4/4 | - | 1 |
12-49579759-C-T | c.390G>A | p.T130= | Synonymous | 4/4 | - | 1 |
12-49579760-G-A | c.389C>T | p.T130M | Missense | 4/4 | - | 1 |
12-49579760-G-C | c.389C>G | p.T130R | Missense | 4/4 | - | 1 |
12-49579760-G-T | c.389C>A | p.T130K | Missense | 4/4 | - | 1 |
12-49579761-T-A | c.388A>T | p.T130S | Missense | 4/4 | - | 1 |
12-49579761-T-C | c.388A>G | p.T130A | Missense | 4/4 | - | 1 |
12-49579761-T-G | c.388A>C | p.T130P | Missense | 4/4 | - | 1 |
12-49579762-G-C | c.387C>G | p.C129W | Missense | 4/4 | - | 1 |
12-49579762-G-T | c.387C>A | p.C129* | Nonsense | 4/4 | - | 1 |
12-49579763-C-A | c.386G>T | p.C129F | Missense | 4/4 | - | 1 |
12-49579763-C-T | c.386G>A | p.C129Y | Missense | 4/4 | - | 1 |
12-49579764-A-C | c.385T>G | p.C129G | Missense | 4/4 | - | 1 |
12-49579764-A-G | c.385T>C | p.C129R | Missense | 4/4 | - | 1 |
12-49579764-A-T | c.385T>A | p.C129S | Missense | 4/4 | - | 1 |
12-49579765-C-A | c.384G>T | p.Q128H | Missense | 4/4 | - | 1 |
12-49579765-C-G | c.384G>C | p.Q128H | Missense | 4/4 | - | 1 |
12-49579766-T-A | c.383A>T | p.Q128L | Missense | 4/4 | - | 1 |
12-49579766-T-C | c.383A>G | p.Q128R | Missense | 4/4 | - | 1 |
12-49579766-T-G | c.383A>C | p.Q128P | Missense | 4/4 | - | 1 |
12-49579767-G-C | c.382C>G | p.Q128E | Missense | 4/4 | - | 1 |
12-49579767-G-T | c.382C>A | p.Q128K | Missense | 4/4 | - | 1 |
12-49579768-G-C | c.381C>G | p.D127E | Missense | 4/4 | - | 1 |
12-49579768-G-T | c.381C>A | p.D127E | Missense | 4/4 | - | 2 |
12-49579769-T-A | c.380A>T | p.D127V | Missense | 4/4 | - | 1 |
12-49579769-T-C | c.380A>G | p.D127G | Missense | 4/4 | - | 1 |
12-49579769-T-G | c.380A>C | p.D127A | Missense | 4/4 | - | 1 |
12-49579770-C-A | c.379G>T | p.D127Y | Missense | 4/4 | - | 1 |
12-49579770-C-G | c.379G>C | p.D127H | Missense | 4/4 | - | 1 |
12-49579770-C-T | c.379G>A | p.D127N | Missense | 4/4 | - | 1 |
12-49579772-G-A | c.377C>T | p.A126V | Missense | 4/4 | - | 1 |
12-49579772-G-C | c.377C>G | p.A126G | Missense | 4/4 | - | 1 |
12-49579772-G-T | c.377C>A | p.A126D | Missense | 4/4 | - | 1 |
12-49579773-C-A | c.376G>T | p.A126S | Missense | 4/4 | - | 1 |
12-49579773-C-G | c.376G>C | p.A126P | Missense | 4/4 | - | 1 |
12-49579773-C-T | c.376G>A | p.A126T | Missense | 4/4 | - | 1 |
12-49580094-A-C | c.374T>G | p.L125R | Missense | 3/4 | - | 1 |
12-49580094-A-G | c.374T>C | p.L125P | Missense | 3/4 | - | 1 |
12-49580094-A-T | c.374T>A | p.L125Q | Missense | 3/4 | - | 1 |
12-49580095-G-C | c.373C>G | p.L125V | Missense | 3/4 | - | 1 |
12-49580095-G-T | c.373C>A | p.L125M | Missense | 3/4 | - | 1 |
12-49580096-C-A | c.372G>T | p.K124N | Missense | 3/4 | - | 1 |
12-49580096-C-G | c.372G>C | p.K124N | Missense | 3/4 | - | 1 |
12-49580097-T-A | c.371A>T | p.K124M | Missense | 3/4 | - | 1 |
12-49580097-T-C | c.371A>G | p.K124R | Missense | 3/4 | - | 1 |
12-49580097-T-G | c.371A>C | p.K124T | Missense | 3/4 | - | 1 |
12-49580098-T-C | c.370A>G | p.K124E | Missense | 3/4 | - | 1 |
12-49580098-T-G | c.370A>C | p.K124Q | Missense | 3/4 | - | 2 |
12-49580100-C-A | c.368G>T | p.R123L | Missense | 3/4 | - | 1 |
12-49580100-C-G | c.368G>C | p.R123P | Missense | 3/4 | - | 1 |
12-49580100-C-T | c.368G>A | p.R123H | Missense | 3/4 | - | 1 |
12-49580101-G-A | c.367C>T | p.R123C | Missense | 3/4 | - | 3 |
12-49580101-G-C | c.367C>G | p.R123G | Missense | 3/4 | - | 1 |
12-49580101-G-T | c.367C>A | p.R123S | Missense | 3/4 | - | 1 |
12-49580102-A-C | c.366T>G | p.I122M | Missense | 3/4 | - | 1 |
12-49580103-A-C | c.365T>G | p.I122S | Missense | 3/4 | - | 1 |
12-49580103-A-G | c.365T>C | p.I122T | Missense | 3/4 | - | 1 |
12-49580103-A-T | c.365T>A | p.I122N | Missense | 3/4 | - | 1 |
12-49580104-T-A | c.364A>T | p.I122F | Missense | 3/4 | - | 1 |
12-49580104-T-C | c.364A>G | p.I122V | Missense | 3/4 | - | 1 |
12-49580104-T-G | c.364A>C | p.I122L | Missense | 3/4 | - | 1 |
12-49580105-TCG-ACA | c.361_363delinsTGT | p.R121C | Missense | 3/4 | - | 1 |
12-49580105-TC-AT | c.362_363delinsAT | p.R121H | Missense | 3/4 | - | 1 |
12-49580106-C-A | c.362G>T | p.R121L | Missense | 3/4 | - | 1 |
12-49580106-C-G | c.362G>C | p.R121P | Missense | 3/4 | - | 1 |
12-49580106-C-T | c.362G>A | p.R121Q | Missense | 3/4 | - | 1 |
12-49580107-G-C | c.361C>G | p.R121G | Missense | 3/4 | - | 1 |
12-49580107-G-A | c.361C>T | p.R121* | Nonsense | 3/4 | - | 1 |
12-49580108-G-C | c.360C>G | p.D120E | Missense | 3/4 | - | 1 |
12-49580108-G-T | c.360C>A | p.D120E | Missense | 3/4 | - | 1 |
12-49580109-T-A | c.359A>T | p.D120V | Missense | 3/4 | - | 1 |
12-49580109-T-C | c.359A>G | p.D120G | Missense | 3/4 | - | 1 |
12-49580109-T-G | c.359A>C | p.D120A | Missense | 3/4 | - | 1 |
12-49580110-C-A | c.358G>T | p.D120Y | Missense | 3/4 | - | 1 |
12-49580110-C-G | c.358G>C | p.D120H | Missense | 3/4 | - | 1 |
12-49580110-C-T | c.358G>A | p.D120N | Missense | 3/4 | - | 1 |
12-49580111-C-A | c.357G>T | p.L119F | Missense | 3/4 | - | 1 |
12-49580111-C-G | c.357G>C | p.L119F | Missense | 3/4 | - | 1 |
12-49580111-C-T | c.357G>A | p.L119= | Synonymous | 3/4 | - | 1 |
12-49580112-A-C | c.356T>G | p.L119W | Missense | 3/4 | - | 1 |
12-49580112-A-G | c.356T>C | p.L119S | Missense | 3/4 | - | 1 |
12-49580112-A-T | c.356T>A | p.L119* | Nonsense | 3/4 | - | 1 |
12-49580113-A-C | c.355T>G | p.L119V | Missense | 3/4 | - | 1 |
12-49580113-A-T | c.355T>A | p.L119M | Missense | 3/4 | - | 1 |
12-49580115-A-C | c.353T>G | p.V118G | Missense | 3/4 | - | 1 |
12-49580115-A-G | c.353T>C | p.V118A | Missense | 3/4 | - | 1 |
12-49580115-A-T | c.353T>A | p.V118E | Missense | 3/4 | - | 1 |
12-49580116-C-T | c.352G>A | p.V118M | Missense | 3/4 | - | 2 |
12-49580116-C-A | c.352G>T | p.V118L | Missense | 3/4 | - | 1 |
12-49580116-C-G | c.352G>C | p.V118L | Missense | 3/4 | - | 2 |
12-49580117-GAG-CAT | c.349_351delinsATG | p.L117M | Missense | 3/4 | - | 1 |
12-49580117-GA-TT | c.350_351delinsAA | p.L117Q | Missense | 3/4 | - | 1 |
12-49580117-G-A | c.351C>T | p.L117= | Synonymous | 3/4 | - | 1 |
12-49580118-A-C | c.350T>G | p.L117R | Missense | 3/4 | - | 1 |
12-49580118-A-G | c.350T>C | p.L117P | Missense | 3/4 | - | 1 |
12-49580118-A-T | c.350T>A | p.L117H | Missense | 3/4 | - | 1 |
12-49580119-G-A | c.349C>T | p.L117F | Missense | 3/4 | - | 1 |
12-49580119-G-C | c.349C>G | p.L117V | Missense | 3/4 | - | 1 |
12-49580119-G-T | c.349C>A | p.L117I | Missense | 3/4 | - | 1 |
12-49580120-G-C | c.348C>G | p.D116E | Missense | 3/4 | - | 1 |
12-49580120-G-T | c.348C>A | p.D116E | Missense | 3/4 | - | 1 |
12-49580121-T-A | c.347A>T | p.D116V | Missense | 3/4 | - | 1 |
12-49580121-T-C | c.347A>G | p.D116G | Missense | 3/4 | - | 1 |
12-49580121-T-G | c.347A>C | p.D116A | Missense | 3/4 | - | 1 |
12-49580122-C-A | c.346G>T | p.D116Y | Missense | 3/4 | - | 1 |
12-49580122-C-G | c.346G>C | p.D116H | Missense | 3/4 | - | 1 |
12-49580122-C-T | c.346G>A | p.D116N | Missense | 3/4 | - | 1 |
12-49580123-A-C | c.345T>G | p.I115M | Missense | 3/4 | - | 1 |
12-49580124-A-C | c.344T>G | p.I115S | Missense | 3/4 | - | 1 |
12-49580124-A-G | c.344T>C | p.I115T | Missense | 3/4 | - | 1 |
12-49580124-A-T | c.344T>A | p.I115N | Missense | 3/4 | - | 1 |
12-49580125-T-A | c.343A>T | p.I115F | Missense | 3/4 | - | 1 |
12-49580125-T-C | c.343A>G | p.I115V | Missense | 3/4 | - | 1 |
12-49580125-T-G | c.343A>C | p.I115L | Missense | 3/4 | - | 1 |
12-49580126-G-C | c.342C>G | p.I114M | Missense | 3/4 | - | 1 |
12-49580126-G-T | c.342C>A | p.I114= | Synonymous | 3/4 | - | 1 |
12-49580127-A-C | c.341T>G | p.I114S | Missense | 3/4 | - | 1 |
12-49580127-A-G | c.341T>C | p.I114T | Missense | 3/4 | - | 1 |
12-49580127-A-T | c.341T>A | p.I114N | Missense | 3/4 | - | 1 |
12-49580128-T-A | c.340A>T | p.I114F | Missense | 3/4 | - | 1 |
12-49580128-T-C | c.340A>G | p.I114V | Missense | 3/4 | - | 1 |
12-49580128-T-G | c.340A>C | p.I114L | Missense | 3/4 | - | 1 |
12-49580129-C-A | c.339G>T | p.E113D | Missense | 3/4 | - | 1 |
12-49580129-C-G | c.339G>C | p.E113D | Missense | 3/4 | - | 1 |
12-49580130-T-A | c.338A>T | p.E113V | Missense | 3/4 | - | 1 |
12-49580130-T-C | c.338A>G | p.E113G | Missense | 3/4 | - | 1 |
12-49580130-T-G | c.338A>C | p.E113A | Missense | 3/4 | - | 1 |
12-49580131-C-G | c.337G>C | p.E113Q | Missense | 3/4 | - | 1 |
12-49580131-C-T | c.337G>A | p.E113K | Missense | 3/4 | - | 3 |
12-49580131-C-A | c.337G>T | p.E113* | Nonsense | 3/4 | - | 1 |
12-49580132-C-A | c.336G>T | p.K112N | Missense | 3/4 | - | 1 |
12-49580132-C-G | c.336G>C | p.K112N | Missense | 3/4 | - | 1 |
12-49580133-T-A | c.335A>T | p.K112M | Missense | 3/4 | - | 1 |
12-49580133-T-C | c.335A>G | p.K112R | Missense | 3/4 | - | 1 |
12-49580133-T-G | c.335A>C | p.K112T | Missense | 3/4 | - | 1 |
12-49580134-T-C | c.334A>G | p.K112E | Missense | 3/4 | - | 1 |
12-49580134-T-G | c.334A>C | p.K112Q | Missense | 3/4 | - | 1 |
12-49580136-C-A | c.332G>T | p.G111V | Missense | 3/4 | - | 1 |
12-49580136-C-G | c.332G>C | p.G111A | Missense | 3/4 | - | 1 |
12-49580136-C-T | c.332G>A | p.G111D | Missense | 3/4 | - | 1 |
12-49580137-C-A | c.331G>T | p.G111C | Missense | 3/4 | - | 1 |
12-49580137-C-G | c.331G>C | p.G111R | Missense | 3/4 | - | 1 |
12-49580137-C-T | c.331G>A | p.G111S | Missense | 3/4 | - | 1 |
12-49580138-A-C | c.330T>G | p.I110M | Missense | 3/4 | - | 1 |
12-49580139-A-C | c.329T>G | p.I110S | Missense | 3/4 | - | 1 |
12-49580139-A-G | c.329T>C | p.I110T | Missense | 3/4 | - | 1 |
12-49580139-A-T | c.329T>A | p.I110N | Missense | 3/4 | - | 1 |
12-49580140-T-A | c.328A>T | p.I110F | Missense | 3/4 | - | 1 |
12-49580140-T-C | c.328A>G | p.I110V | Missense | 3/4 | - | 1 |
12-49580140-T-G | c.328A>C | p.I110L | Missense | 3/4 | - | 1 |
12-49580142-G-A | c.326C>T | p.T109I | Missense | 3/4 | - | 1 |
12-49580142-G-T | c.326C>A | p.T109N | Missense | 3/4 | - | 1 |
12-49580143-T-A | c.325A>T | p.T109S | Missense | 3/4 | - | 1 |
12-49580143-T-C | c.325A>G | p.T109A | Missense | 3/4 | - | 1 |
12-49580143-T-G | c.325A>C | p.T109P | Missense | 3/4 | - | 1 |
12-49580145-T-A | c.323A>T | p.Y108F | Missense | 3/4 | - | 1 |
12-49580145-T-C | c.323A>G | p.Y108C | Missense | 3/4 | - | 1 |
12-49580145-T-G | c.323A>C | p.Y108S | Missense | 3/4 | - | 1 |
12-49580146-A-C | c.322T>G | p.Y108D | Missense | 3/4 | - | 1 |
12-49580146-A-G | c.322T>C | p.Y108H | Missense | 3/4 | - | 1 |
12-49580146-A-T | c.322T>A | p.Y108N | Missense | 3/4 | - | 1 |
12-49580147-G-C | c.321C>G | p.H107Q | Missense | 3/4 | - | 1 |
12-49580147-G-T | c.321C>A | p.H107Q | Missense | 3/4 | - | 1 |
12-49580148-T-A | c.320A>T | p.H107L | Missense | 3/4 | - | 1 |
12-49580148-T-C | c.320A>G | p.H107R | Missense | 3/4 | - | 3 |
12-49580148-T-G | c.320A>C | p.H107P | Missense | 3/4 | - | 1 |
12-49580149-G-A | c.319C>T | p.H107Y | Missense | 3/4 | - | 1 |
12-49580149-G-C | c.319C>G | p.H107D | Missense | 3/4 | - | 1 |
12-49580149-G-T | c.319C>A | p.H107N | Missense | 3/4 | - | 1 |
12-49580151-C-A | c.317G>T | p.G106V | Missense | 3/4 | - | 1 |
12-49580151-C-G | c.317G>C | p.G106A | Missense | 3/4 | - | 1 |
12-49580151-C-T | c.317G>A | p.G106E | Missense | 3/4 | - | 1 |
12-49580152-C-A | c.316G>T | p.G106W | Missense | 3/4 | - | 1 |
12-49580152-C-T | c.316G>A | p.G106R | Missense | 3/4 | - | 1 |
12-49580154-C-A | c.314G>T | p.R105L | Missense | 3/4 | - | 1 |
12-49580154-C-G | c.314G>C | p.R105P | Missense | 3/4 | - | 1 |
12-49580154-C-T | c.314G>A | p.R105Q | Missense | 3/4 | - | 2 |
12-49580155-G-C | c.313C>G | p.R105G | Missense | 3/4 | - | 1 |
12-49580156-G-C | c.312C>G | p.A104= | Synonymous | 3/4 | - | 1 |
12-49580156-G-T | c.312C>A | p.A104= | Synonymous | 3/4 | - | 1 |
12-49580157-G-A | c.311C>T | p.A104V | Missense | 3/4 | - | 1 |
12-49580157-G-C | c.311C>G | p.A104G | Missense | 3/4 | - | 1 |
12-49580157-G-T | c.311C>A | p.A104D | Missense | 3/4 | - | 1 |
12-49580158-C-A | c.310G>T | p.A104S | Missense | 3/4 | - | 1 |
12-49580158-C-G | c.310G>C | p.A104P | Missense | 3/4 | - | 1 |
12-49580158-C-T | c.310G>A | p.A104T | Missense | 3/4 | - | 1 |
12-49580160-T-A | c.308A>T | p.Y103F | Missense | 3/4 | - | 1 |
12-49580160-T-C | c.308A>G | p.Y103C | Missense | 3/4 | - | 1 |
12-49580160-T-G | c.308A>C | p.Y103S | Missense | 3/4 | - | 1 |
12-49580161-A-C | c.307T>G | p.Y103D | Missense | 3/4 | - | 1 |
12-49580161-A-G | c.307T>C | p.Y103H | Missense | 3/4 | - | 1 |
12-49580161-A-T | c.307T>A | p.Y103N | Missense | 3/4 | - | 1 |
12-49580162-G-C | c.306C>G | p.N102K | Missense | 3/4 | - | 1 |
12-49580162-G-T | c.306C>A | p.N102K | Missense | 3/4 | - | 1 |
12-49580163-T-A | c.305A>T | p.N102I | Missense | 3/4 | - | 1 |
12-49580163-T-C | c.305A>G | p.N102S | Missense | 3/4 | - | 1 |
12-49580163-T-G | c.305A>C | p.N102T | Missense | 3/4 | - | 1 |
12-49580164-T-A | c.304A>T | p.N102Y | Missense | 3/4 | - | 1 |
12-49580164-T-C | c.304A>G | p.N102D | Missense | 3/4 | - | 5 |
12-49580164-T-G | c.304A>C | p.N102H | Missense | 3/4 | - | 1 |
12-49580165-A-C | c.303T>G | p.N101K | Missense | 3/4 | - | 1 |
12-49580165-A-T | c.303T>A | p.N101K | Missense | 3/4 | - | 1 |
12-49580166-T-A | c.302A>T | p.N101I | Missense | 3/4 | - | 1 |
12-49580166-T-C | c.302A>G | p.N101S | Missense | 3/4 | - | 5 |
12-49580166-T-G | c.302A>C | p.N101T | Missense | 3/4 | - | 1 |
12-49580167-T-A | c.301A>T | p.N101Y | Missense | 3/4 | - | 1 |
12-49580167-T-C | c.301A>G | p.N101D | Missense | 3/4 | - | 1 |
12-49580167-T-G | c.301A>C | p.N101H | Missense | 3/4 | - | 1 |
12-49580168-G-C | c.300C>G | p.A100= | Synonymous | 3/4 | - | 1 |
12-49580168-G-T | c.300C>A | p.A100= | Synonymous | 3/4 | - | 1 |
12-49580169-G-A | c.299C>T | p.A100V | Missense | 3/4 | - | 1 |
12-49580169-G-C | c.299C>G | p.A100G | Missense | 3/4 | - | 1 |
12-49580169-G-T | c.299C>A | p.A100D | Missense | 3/4 | - | 1 |
12-49580170-C-A | c.298G>T | p.A100S | Missense | 3/4 | - | 1 |
12-49580170-C-G | c.298G>C | p.A100P | Missense | 3/4 | - | 1 |
12-49580170-C-T | c.298G>A | p.A100T | Missense | 3/4 | - | 1 |
12-49580172-G-A | c.296C>T | p.A99V | Missense | 3/4 | - | 1 |
12-49580172-G-C | c.296C>G | p.A99G | Missense | 3/4 | - | 1 |
12-49580172-G-T | c.296C>A | p.A99D | Missense | 3/4 | - | 2 |
12-49580173-C-A | c.295G>T | p.A99S | Missense | 3/4 | - | 1 |
12-49580173-C-G | c.295G>C | p.A99P | Missense | 3/4 | - | 1 |
12-49580173-C-T | c.295G>A | p.A99T | Missense | 3/4 | - | 1 |
12-49580174-A-C | c.294T>G | p.D98E | Missense | 3/4 | - | 1 |
12-49580174-A-T | c.294T>A | p.D98E | Missense | 3/4 | - | 1 |
12-49580175-T-A | c.293A>T | p.D98V | Missense | 3/4 | - | 1 |
12-49580175-T-C | c.293A>G | p.D98G | Missense | 3/4 | - | 1 |
12-49580175-T-G | c.293A>C | p.D98A | Missense | 3/4 | - | 1 |
12-49580176-C-A | c.292G>T | p.D98Y | Missense | 3/4 | - | 1 |
12-49580176-C-G | c.292G>C | p.D98H | Missense | 3/4 | - | 1 |
12-49580176-C-T | c.292G>A | p.D98N | Missense | 3/4 | - | 1 |
12-49580177-T-A | c.291A>T | p.E97D | Missense | 3/4 | - | 1 |
12-49580177-T-G | c.291A>C | p.E97D | Missense | 3/4 | - | 1 |
12-49580178-T-A | c.290A>T | p.E97V | Missense | 3/4 | - | 1 |
12-49580178-T-C | c.290A>G | p.E97G | Missense | 3/4 | - | 1 |
12-49580178-T-G | c.290A>C | p.E97A | Missense | 3/4 | - | 1 |
12-49580179-C-G | c.289G>C | p.E97Q | Missense | 3/4 | - | 1 |
12-49580179-C-T | c.289G>A | p.E97K | Missense | 3/4 | - | 1 |
12-49580180-T-G | c.288A>C | p.K96N | Missense | 3/4 | - | 1 |
12-49580180-T-C | c.288A>G | p.K96= | Synonymous | 3/4 | - | 1 |
12-49580181-T-A | c.287A>T | p.K96I | Missense | 3/4 | - | 1 |
12-49580181-T-C | c.287A>G | p.K96R | Missense | 3/4 | - | 1 |
12-49580181-T-G | c.287A>C | p.K96T | Missense | 3/4 | - | 1 |
12-49580182-T-C | c.286A>G | p.K96E | Missense | 3/4 | - | 1 |
12-49580182-T-G | c.286A>C | p.K96Q | Missense | 3/4 | - | 1 |
12-49580184-C-A | c.284G>T | p.G95V | Missense | 3/4 | - | 1 |
12-49580184-C-G | c.284G>C | p.G95A | Missense | 3/4 | - | 1 |
12-49580184-C-T | c.284G>A | p.G95D | Missense | 3/4 | - | 1 |
12-49580185-C-A | c.283G>T | p.G95C | Missense | 3/4 | - | 3 |
12-49580185-C-G | c.283G>C | p.G95R | Missense | 3/4 | - | 1 |
12-49580185-C-T | c.283G>A | p.G95S | Missense | 3/4 | - | 1 |
12-49580187-G-A | c.281C>T | p.T94I | Missense | 3/4 | - | 1 |
12-49580187-G-C | c.281C>G | p.T94R | Missense | 3/4 | - | 1 |
12-49580187-G-T | c.281C>A | p.T94K | Missense | 3/4 | - | 1 |
12-49580188-T-A | c.280A>T | p.T94S | Missense | 3/4 | - | 1 |
12-49580188-T-C | c.280A>G | p.T94A | Missense | 3/4 | - | 1 |
12-49580188-T-G | c.280A>C | p.T94P | Missense | 3/4 | - | 1 |
12-49580189-G-C | c.279C>G | p.I93M | Missense | 3/4 | - | 1 |
12-49580190-A-C | c.278T>G | p.I93S | Missense | 3/4 | - | 1 |
12-49580190-A-G | c.278T>C | p.I93T | Missense | 3/4 | - | 1 |
12-49580190-A-T | c.278T>A | p.I93N | Missense | 3/4 | - | 1 |
12-49580191-T-A | c.277A>T | p.I93F | Missense | 3/4 | - | 1 |
12-49580191-T-C | c.277A>G | p.I93V | Missense | 3/4 | - | 1 |
12-49580191-T-G | c.277A>C | p.I93L | Missense | 3/4 | - | 1 |
12-49580193-A-C | c.275T>G | p.L92R | Missense | 3/4 | - | 1 |
12-49580193-A-G | c.275T>C | p.L92P | Missense | 3/4 | - | 1 |
12-49580193-A-T | c.275T>A | p.L92H | Missense | 3/4 | - | 1 |
12-49580194-G-A | c.274C>T | p.L92F | Missense | 3/4 | - | 1 |
12-49580194-G-C | c.274C>G | p.L92V | Missense | 3/4 | - | 5 |
12-49580194-G-T | c.274C>A | p.L92I | Missense | 3/4 | - | 1 |
12-49580195-T-A | c.273A>T | p.Q91H | Missense | 3/4 | - | 1 |
12-49580195-T-G | c.273A>C | p.Q91H | Missense | 3/4 | - | 1 |
12-49580196-T-A | c.272A>T | p.Q91L | Missense | 3/4 | - | 1 |
12-49580196-T-C | c.272A>G | p.Q91R | Missense | 3/4 | - | 1 |
12-49580196-T-G | c.272A>C | p.Q91P | Missense | 3/4 | - | 1 |
12-49580197-G-C | c.271C>G | p.Q91E | Missense | 3/4 | - | 1 |
12-49580197-G-T | c.271C>A | p.Q91K | Missense | 3/4 | - | 1 |
12-49580198-C-A | c.270G>T | p.E90D | Missense | 3/4 | - | 1 |
12-49580198-C-G | c.270G>C | p.E90D | Missense | 3/4 | - | 1 |
12-49580199-T-A | c.269A>T | p.E90V | Missense | 3/4 | - | 1 |
12-49580199-T-C | c.269A>G | p.E90G | Missense | 3/4 | - | 1 |
12-49580199-T-G | c.269A>C | p.E90A | Missense | 3/4 | - | 1 |
12-49580200-C-G | c.268G>C | p.E90Q | Missense | 3/4 | - | 1 |
12-49580200-C-T | c.268G>A | p.E90K | Missense | 3/4 | - | 1 |
12-49580202-G-A | c.266C>T | p.P89L | Missense | 3/4 | - | 1 |
12-49580202-G-C | c.266C>G | p.P89R | Missense | 3/4 | - | 1 |
12-49580202-G-T | c.266C>A | p.P89H | Missense | 3/4 | - | 1 |
12-49580203-G-A | c.265C>T | p.P89S | Missense | 3/4 | - | 1 |
12-49580203-G-C | c.265C>G | p.P89A | Missense | 3/4 | - | 1 |
12-49580203-G-T | c.265C>A | p.P89T | Missense | 3/4 | - | 1 |
12-49580204-G-C | c.264C>G | p.H88Q | Missense | 3/4 | - | 1 |
12-49580204-G-T | c.264C>A | p.H88Q | Missense | 3/4 | - | 1 |
12-49580205-T-A | c.263A>T | p.H88L | Missense | 3/4 | - | 1 |
12-49580205-T-C | c.263A>G | p.H88R | Missense | 3/4 | - | 1 |
12-49580205-T-G | c.263A>C | p.H88P | Missense | 3/4 | - | 1 |
12-49580206-G-A | c.262C>T | p.H88Y | Missense | 3/4 | - | 1 |
12-49580206-G-C | c.262C>G | p.H88D | Missense | 3/4 | - | 1 |
12-49580206-G-T | c.262C>A | p.H88N | Missense | 3/4 | - | 1 |
12-49580207-G-C | c.261C>G | p.F87L | Missense | 3/4 | - | 1 |
12-49580207-G-T | c.261C>A | p.F87L | Missense | 3/4 | - | 1 |
12-49580208-A-C | c.260T>G | p.F87C | Missense | 3/4 | - | 1 |
12-49580208-A-G | c.260T>C | p.F87S | Missense | 3/4 | - | 1 |
12-49580208-A-T | c.260T>A | p.F87Y | Missense | 3/4 | - | 1 |
12-49580209-A-C | c.259T>G | p.F87V | Missense | 3/4 | - | 1 |
12-49580209-A-G | c.259T>C | p.F87L | Missense | 3/4 | - | 1 |
12-49580209-A-T | c.259T>A | p.F87I | Missense | 3/4 | - | 1 |
12-49580211-A-C | c.257T>G | p.L86R | Missense | 3/4 | - | 1 |
12-49580211-A-G | c.257T>C | p.L86P | Missense | 3/4 | - | 1 |
12-49580211-A-T | c.257T>A | p.L86H | Missense | 3/4 | - | 1 |
12-49580212-G-A | c.256C>T | p.L86F | Missense | 3/4 | - | 1 |
12-49580212-G-C | c.256C>G | p.L86V | Missense | 3/4 | - | 1 |
12-49580212-G-T | c.256C>A | p.L86I | Missense | 3/4 | - | 1 |
12-49580213-C-A | c.255G>T | p.Q85H | Missense | 3/4 | - | 1 |
12-49580213-C-G | c.255G>C | p.Q85H | Missense | 3/4 | - | 1 |
12-49580214-T-A | c.254A>T | p.Q85L | Missense | 3/4 | - | 1 |
12-49580214-T-C | c.254A>G | p.Q85R | Missense | 3/4 | - | 1 |
12-49580214-T-G | c.254A>C | p.Q85P | Missense | 3/4 | - | 1 |
12-49580215-G-C | c.253C>G | p.Q85E | Missense | 3/4 | - | 1 |
12-49580215-G-T | c.253C>A | p.Q85K | Missense | 3/4 | - | 1 |
12-49580217-C-A | c.251G>T | p.R84L | Missense | 3/4 | - | 1 |
12-49580217-C-G | c.251G>C | p.R84P | Missense | 3/4 | - | 1 |
12-49580217-C-T | c.251G>A | p.R84H | Missense | 3/4 | - | 1 |
12-49580218-G-A | c.250C>T | p.R84C | Missense | 3/4 | - | 1 |
12-49580218-G-C | c.250C>G | p.R84G | Missense | 3/4 | - | 1 |
12-49580218-G-T | c.250C>A | p.R84S | Missense | 3/4 | - | 1 |
12-49580220-T-A | c.248A>T | p.Y83F | Missense | 3/4 | - | 1 |
12-49580220-T-C | c.248A>G | p.Y83C | Missense | 3/4 | - | 1 |
12-49580220-T-G | c.248A>C | p.Y83S | Missense | 3/4 | - | 1 |
12-49580221-A-C | c.247T>G | p.Y83D | Missense | 3/4 | - | 1 |
12-49580221-A-G | c.247T>C | p.Y83H | Missense | 3/4 | - | 1 |
12-49580221-A-T | c.247T>A | p.Y83N | Missense | 3/4 | - | 1 |
12-49580223-G-A | c.245C>T | p.T82I | Missense | 3/4 | - | 1 |
12-49580223-G-T | c.245C>A | p.T82N | Missense | 3/4 | - | 1 |
12-49580224-T-A | c.244A>T | p.T82S | Missense | 3/4 | - | 1 |
12-49580224-T-C | c.244A>G | p.T82A | Missense | 3/4 | - | 1 |
12-49580224-T-G | c.244A>C | p.T82P | Missense | 3/4 | - | 1 |
12-49580225-G-C | c.243C>G | p.G81= | Synonymous | 3/4 | - | 1 |
12-49580225-G-T | c.243C>A | p.G81= | Synonymous | 3/4 | - | 1 |
12-49580226-C-A | c.242G>T | p.G81V | Missense | 3/4 | - | 1 |
12-49580226-C-G | c.242G>C | p.G81A | Missense | 3/4 | - | 1 |
12-49580226-C-T | c.242G>A | p.G81D | Missense | 3/4 | - | 1 |
12-49580227-C-A | c.241G>T | p.G81C | Missense | 3/4 | - | 1 |
12-49580227-C-G | c.241G>C | p.G81R | Missense | 3/4 | - | 1 |
12-49580227-C-T | c.241G>A | p.G81S | Missense | 3/4 | - | 1 |
12-49580228-A-C | c.240T>G | p.T80= | Synonymous | 3/4 | - | 1 |
12-49580229-G-A | c.239C>T | p.T80I | Missense | 3/4 | - | 1 |
12-49580229-G-T | c.239C>A | p.T80N | Missense | 3/4 | - | 1 |
12-49580230-T-A | c.238A>T | p.T80S | Missense | 3/4 | - | 1 |
12-49580230-T-C | c.238A>G | p.T80A | Missense | 3/4 | - | 1 |
12-49580230-T-G | c.238A>C | p.T80P | Missense | 3/4 | - | 1 |
12-49580231-G-C | c.237C>G | p.R79= | Synonymous | 3/4 | - | 1 |
12-49580232-C-A | c.236G>T | p.R79L | Missense | 3/4 | - | 1 |
12-49580232-C-G | c.236G>C | p.R79P | Missense | 3/4 | - | 1 |
12-49580232-C-T | c.236G>A | p.R79H | Missense | 3/4 | - | 1 |
12-49580233-G-T | c.235C>A | p.R79S | Missense | 3/4 | - | 1 |
12-49580233-G-A | c.235C>T | p.R79C | Missense | 3/4 | - | 1 |
12-49580233-G-C | c.235C>G | p.R79G | Missense | 3/4 | - | 1 |
12-49580235-A-C | c.233T>G | p.V78G | Missense | 3/4 | - | 1 |
12-49580235-A-G | c.233T>C | p.V78A | Missense | 3/4 | - | 1 |
12-49580235-A-T | c.233T>A | p.V78D | Missense | 3/4 | - | 1 |
12-49580236-C-A | c.232G>T | p.V78F | Missense | 3/4 | - | 1 |
12-49580236-C-G | c.232G>C | p.V78L | Missense | 3/4 | - | 1 |
12-49580236-C-T | c.232G>A | p.V78I | Missense | 3/4 | - | 1 |
12-49580237-T-A | c.231A>T | p.E77D | Missense | 3/4 | - | 1 |
12-49580237-T-G | c.231A>C | p.E77D | Missense | 3/4 | - | 1 |
12-49580238-T-A | c.230A>T | p.E77V | Missense | 3/4 | - | 1 |
12-49580238-T-C | c.230A>G | p.E77G | Missense | 3/4 | - | 1 |
12-49580238-T-G | c.230A>C | p.E77A | Missense | 3/4 | - | 1 |
12-49580239-C-G | c.229G>C | p.E77Q | Missense | 3/4 | - | 2 |
12-49580239-C-T | c.229G>A | p.E77K | Missense | 3/4 | - | 1 |
12-49580240-A-C | c.228T>G | p.D76E | Missense | 3/4 | - | 1 |
12-49580240-A-T | c.228T>A | p.D76E | Missense | 3/4 | - | 1 |
12-49580241-T-A | c.227A>T | p.D76V | Missense | 3/4 | - | 1 |
12-49580241-T-C | c.227A>G | p.D76G | Missense | 3/4 | - | 1 |
12-49580241-T-G | c.227A>C | p.D76A | Missense | 3/4 | - | 1 |
12-49580384-G-A | c.226+10C>T | - | IntronicSNV | - | 2/3 | 1 |
12-49580393-C-T | c.226+1G>A | - | IntronicSNV | - | 2/3 | 1 |
12-49580394-C-A | c.226G>T | p.D76Y | Missense | 2/4 | - | 1 |
12-49580394-C-G | c.226G>C | p.D76H | Missense | 2/4 | - | 1 |
12-49580394-C-T | c.226G>A | p.D76N | Missense | 2/4 | - | 1 |
12-49580395-A-C | c.225T>G | p.I75M | Missense | 2/4 | - | 1 |
12-49580396-A-C | c.224T>G | p.I75S | Missense | 2/4 | - | 1 |
12-49580396-A-G | c.224T>C | p.I75T | Missense | 2/4 | - | 1 |
12-49580396-A-T | c.224T>A | p.I75N | Missense | 2/4 | - | 1 |
12-49580397-T-A | c.223A>T | p.I75F | Missense | 2/4 | - | 1 |
12-49580397-T-C | c.223A>G | p.I75V | Missense | 2/4 | - | 1 |
12-49580397-T-G | c.223A>C | p.I75L | Missense | 2/4 | - | 1 |
12-49580399-A-C | c.221T>G | p.V74G | Missense | 2/4 | - | 1 |
12-49580399-A-G | c.221T>C | p.V74A | Missense | 2/4 | - | 1 |
12-49580399-A-T | c.221T>A | p.V74D | Missense | 2/4 | - | 1 |
12-49580400-C-A | c.220G>T | p.V74F | Missense | 2/4 | - | 1 |
12-49580400-C-G | c.220G>C | p.V74L | Missense | 2/4 | - | 1 |
12-49580400-C-T | c.220G>A | p.V74I | Missense | 2/4 | - | 1 |
12-49580402-G-A | c.218C>T | p.T73I | Missense | 2/4 | - | 1 |
12-49580402-G-C | c.218C>G | p.T73R | Missense | 2/4 | - | 1 |
12-49580402-G-T | c.218C>A | p.T73K | Missense | 2/4 | - | 1 |
12-49580403-T-A | c.217A>T | p.T73S | Missense | 2/4 | - | 1 |
12-49580403-T-C | c.217A>G | p.T73A | Missense | 2/4 | - | 1 |
12-49580403-T-G | c.217A>C | p.T73P | Missense | 2/4 | - | 1 |
12-49580404-G-C | c.216C>G | p.P72= | Synonymous | 2/4 | - | 1 |
12-49580404-G-T | c.216C>A | p.P72= | Synonymous | 2/4 | - | 1 |
12-49580405-G-A | c.215C>T | p.P72L | Missense | 2/4 | - | 1 |
12-49580405-G-C | c.215C>G | p.P72R | Missense | 2/4 | - | 3 |
12-49580405-G-T | c.215C>A | p.P72H | Missense | 2/4 | - | 1 |
12-49580406-G-A | c.214C>T | p.P72S | Missense | 2/4 | - | 3 |
12-49580406-G-C | c.214C>G | p.P72A | Missense | 2/4 | - | 1 |
12-49580406-G-T | c.214C>A | p.P72T | Missense | 2/4 | - | 1 |
12-49580407-T-A | c.213A>T | p.E71D | Missense | 2/4 | - | 1 |
12-49580407-T-G | c.213A>C | p.E71D | Missense | 2/4 | - | 1 |
12-49580408-T-A | c.212A>T | p.E71V | Missense | 2/4 | - | 1 |
12-49580408-T-C | c.212A>G | p.E71G | Missense | 2/4 | - | 1 |
12-49580408-T-G | c.212A>C | p.E71A | Missense | 2/4 | - | 1 |
12-49580409-C-G | c.211G>C | p.E71Q | Missense | 2/4 | - | 1 |
12-49580409-C-T | c.211G>A | p.E71K | Missense | 2/4 | - | 1 |
12-49580410-C-A | c.210G>T | p.L70F | Missense | 2/4 | - | 1 |
12-49580410-C-G | c.210G>C | p.L70F | Missense | 2/4 | - | 1 |
12-49580408-TC-T | c.211del | p.E71Nfs*111 | Frameshift | 2/4 | - | 1 |
12-49580411-A-C | c.209T>G | p.L70W | Missense | 2/4 | - | 1 |
12-49580411-A-G | c.209T>C | p.L70S | Missense | 2/4 | - | 3 |
12-49580412-A-C | c.208T>G | p.L70V | Missense | 2/4 | - | 1 |
12-49580412-A-T | c.208T>A | p.L70M | Missense | 2/4 | - | 1 |
12-49580413-G-C | c.207C>G | p.D69E | Missense | 2/4 | - | 1 |
12-49580413-G-T | c.207C>A | p.D69E | Missense | 2/4 | - | 1 |
12-49580414-T-A | c.206A>T | p.D69V | Missense | 2/4 | - | 1 |
12-49580414-T-C | c.206A>G | p.D69G | Missense | 2/4 | - | 1 |
12-49580414-T-G | c.206A>C | p.D69A | Missense | 2/4 | - | 1 |
12-49580415-C-A | c.205G>T | p.D69Y | Missense | 2/4 | - | 1 |
12-49580415-C-G | c.205G>C | p.D69H | Missense | 2/4 | - | 1 |
12-49580415-C-T | c.205G>A | p.D69N | Missense | 2/4 | - | 2 |
12-49580417-A-C | c.203T>G | p.V68G | Missense | 2/4 | - | 1 |
12-49580417-A-G | c.203T>C | p.V68A | Missense | 2/4 | - | 1 |
12-49580417-A-T | c.203T>A | p.V68E | Missense | 2/4 | - | 1 |
12-49580418-C-A | c.202G>T | p.V68L | Missense | 2/4 | - | 1 |
12-49580418-C-G | c.202G>C | p.V68L | Missense | 2/4 | - | 1 |
12-49580418-C-T | c.202G>A | p.V68I | Missense | 2/4 | - | 1 |
12-49580419-A-C | c.201T>G | p.F67L | Missense | 2/4 | - | 1 |
12-49580419-A-T | c.201T>A | p.F67L | Missense | 2/4 | - | 1 |
12-49580420-A-C | c.200T>G | p.F67C | Missense | 2/4 | - | 1 |
12-49580420-A-G | c.200T>C | p.F67S | Missense | 2/4 | - | 1 |
12-49580420-A-T | c.200T>A | p.F67Y | Missense | 2/4 | - | 1 |
12-49580421-A-C | c.199T>G | p.F67V | Missense | 2/4 | - | 1 |
12-49580421-A-G | c.199T>C | p.F67L | Missense | 2/4 | - | 1 |
12-49580421-A-T | c.199T>A | p.F67I | Missense | 2/4 | - | 1 |
12-49580423-A-C | c.197T>G | p.V66G | Missense | 2/4 | - | 1 |
12-49580423-A-G | c.197T>C | p.V66A | Missense | 2/4 | - | 1 |
12-49580423-A-T | c.197T>A | p.V66E | Missense | 2/4 | - | 1 |
12-49580424-C-A | c.196G>T | p.V66L | Missense | 2/4 | - | 1 |
12-49580424-C-G | c.196G>C | p.V66L | Missense | 2/4 | - | 1 |
12-49580424-C-T | c.196G>A | p.V66M | Missense | 2/4 | - | 1 |
12-49580425-TG-GT | c.194_195delinsAC | p.A65D | Missense | 2/4 | - | 1 |
12-49580425-T-A | c.195A>T | p.A65= | Synonymous | 2/4 | - | 1 |
12-49580426-G-A | c.194C>T | p.A65V | Missense | 2/4 | - | 1 |
12-49580426-G-C | c.194C>G | p.A65G | Missense | 2/4 | - | 1 |
12-49580426-G-T | c.194C>A | p.A65E | Missense | 2/4 | - | 1 |
12-49580427-C-A | c.193G>T | p.A65S | Missense | 2/4 | - | 1 |
12-49580427-C-G | c.193G>C | p.A65P | Missense | 2/4 | - | 1 |
12-49580427-C-T | c.193G>A | p.A65T | Missense | 2/4 | - | 1 |
12-49580429-C-A | c.191G>T | p.R64L | Missense | 2/4 | - | 1 |
12-49580429-C-G | c.191G>C | p.R64P | Missense | 2/4 | - | 1 |
12-49580429-C-T | c.191G>A | p.R64Q | Missense | 2/4 | - | 1 |
12-49580430-G-A | c.190C>T | p.R64W | Missense | 2/4 | - | 4 |
12-49580430-G-C | c.190C>G | p.R64G | Missense | 2/4 | - | 1 |
12-49580432-G-A | c.188C>T | p.P63L | Missense | 2/4 | - | 1 |
12-49580432-G-C | c.188C>G | p.P63R | Missense | 2/4 | - | 1 |
12-49580432-G-T | c.188C>A | p.P63H | Missense | 2/4 | - | 1 |
12-49580433-G-A | c.187C>T | p.P63S | Missense | 2/4 | - | 1 |
12-49580433-G-C | c.187C>G | p.P63A | Missense | 2/4 | - | 1 |
12-49580433-G-T | c.187C>A | p.P63T | Missense | 2/4 | - | 1 |
12-49580435-A-C | c.185T>G | p.V62G | Missense | 2/4 | - | 1 |
12-49580435-A-G | c.185T>C | p.V62A | Missense | 2/4 | - | 1 |
12-49580435-A-T | c.185T>A | p.V62E | Missense | 2/4 | - | 1 |
12-49580436-C-A | c.184G>T | p.V62L | Missense | 2/4 | - | 1 |
12-49580436-C-G | c.184G>C | p.V62L | Missense | 2/4 | - | 1 |
12-49580436-C-T | c.184G>A | p.V62M | Missense | 2/4 | - | 1 |
12-49580437-A-C | c.183T>G | p.H61Q | Missense | 2/4 | - | 1 |
12-49580437-A-T | c.183T>A | p.H61Q | Missense | 2/4 | - | 1 |
12-49580438-T-A | c.182A>T | p.H61L | Missense | 2/4 | - | 1 |
12-49580438-T-C | c.182A>G | p.H61R | Missense | 2/4 | - | 1 |
12-49580438-T-G | c.182A>C | p.H61P | Missense | 2/4 | - | 1 |
12-49580439-G-C | c.181C>G | p.H61D | Missense | 2/4 | - | 1 |
12-49580439-G-A | c.181C>T | p.H61Y | Missense | 2/4 | - | 1 |
12-49580439-G-T | c.181C>A | p.H61N | Missense | 2/4 | - | 1 |
12-49580440-C-A | c.180G>T | p.K60N | Missense | 2/4 | - | 1 |
12-49580440-C-G | c.180G>C | p.K60N | Missense | 2/4 | - | 1 |
12-49580441-T-A | c.179A>T | p.K60M | Missense | 2/4 | - | 1 |
12-49580441-T-C | c.179A>G | p.K60R | Missense | 2/4 | - | 1 |
12-49580441-T-G | c.179A>C | p.K60T | Missense | 2/4 | - | 1 |
12-49580442-T-C | c.178A>G | p.K60E | Missense | 2/4 | - | 1 |
12-49580442-T-G | c.178A>C | p.K60Q | Missense | 2/4 | - | 1 |
12-49580444-C-A | c.176G>T | p.G59V | Missense | 2/4 | - | 1 |
12-49580444-C-G | c.176G>C | p.G59A | Missense | 2/4 | - | 1 |
12-49580444-C-T | c.176G>A | p.G59D | Missense | 2/4 | - | 1 |
12-49580445-C-A | c.175G>T | p.G59C | Missense | 2/4 | - | 1 |
12-49580445-C-G | c.175G>C | p.G59R | Missense | 2/4 | - | 1 |
12-49580445-C-T | c.175G>A | p.G59S | Missense | 2/4 | - | 3 |
12-49580447-G-A | c.173C>T | p.A58V | Missense | 2/4 | - | 1 |
12-49580447-G-C | c.173C>G | p.A58G | Missense | 2/4 | - | 1 |
12-49580447-G-T | c.173C>A | p.A58D | Missense | 2/4 | - | 1 |
12-49580448-C-A | c.172G>T | p.A58S | Missense | 2/4 | - | 1 |
12-49580448-C-G | c.172G>C | p.A58P | Missense | 2/4 | - | 2 |
12-49580448-C-T | c.172G>A | p.A58T | Missense | 2/4 | - | 1 |
12-49580449-C-A | c.171G>T | p.G57= | Synonymous | 2/4 | - | 2 |
12-49580449-C-T | c.171G>A | p.G57= | Synonymous | 2/4 | - | 1 |
12-49580449-C-G | c.171G>C | p.G57= | Synonymous | 2/4 | - | 1 |
12-49580450-C-A | c.170G>T | p.G57V | Missense | 2/4 | - | 1 |
12-49580450-C-G | c.170G>C | p.G57A | Missense | 2/4 | - | 1 |
12-49580450-C-T | c.170G>A | p.G57E | Missense | 2/4 | - | 1 |
12-49580451-C-A | c.169G>T | p.G57W | Missense | 2/4 | - | 1 |
12-49580451-C-G | c.169G>C | p.G57R | Missense | 2/4 | - | 1 |
12-49580451-C-T | c.169G>A | p.G57R | Missense | 2/4 | - | 1 |
12-49580453-G-A | c.167C>T | p.T56M | Missense | 2/4 | - | 5 |
12-49580453-G-C | c.167C>G | p.T56R | Missense | 2/4 | - | 1 |
12-49580453-G-T | c.167C>A | p.T56K | Missense | 2/4 | - | 1 |
12-49580454-T-A | c.166A>T | p.T56S | Missense | 2/4 | - | 1 |
12-49580454-T-C | c.166A>G | p.T56A | Missense | 2/4 | - | 1 |
12-49580454-T-G | c.166A>C | p.T56P | Missense | 2/4 | - | 1 |
12-49580455-C-A | c.165G>T | p.E55D | Missense | 2/4 | - | 1 |
12-49580455-C-G | c.165G>C | p.E55D | Missense | 2/4 | - | 1 |
12-49580455-C-T | c.165G>A | p.E55= | Synonymous | 2/4 | - | 1 |
12-49580456-T-A | c.164A>T | p.E55V | Missense | 2/4 | - | 1 |
12-49580456-T-C | c.164A>G | p.E55G | Missense | 2/4 | - | 1 |
12-49580456-T-G | c.164A>C | p.E55A | Missense | 2/4 | - | 1 |
12-49580457-C-G | c.163G>C | p.E55Q | Missense | 2/4 | - | 1 |
12-49580457-C-T | c.163G>A | p.E55K | Missense | 2/4 | - | 5 |
12-49580458-A-C | c.162T>G | p.S54R | Missense | 2/4 | - | 1 |
12-49580458-A-T | c.162T>A | p.S54R | Missense | 2/4 | - | 1 |
12-49580459-C-A | c.161G>T | p.S54I | Missense | 2/4 | - | 1 |
12-49580459-C-G | c.161G>C | p.S54T | Missense | 2/4 | - | 1 |
12-49580459-C-T | c.161G>A | p.S54N | Missense | 2/4 | - | 3 |
12-49580460-T-A | c.160A>T | p.S54C | Missense | 2/4 | - | 1 |
12-49580460-T-C | c.160A>G | p.S54G | Missense | 2/4 | - | 1 |
12-49580460-T-G | c.160A>C | p.S54R | Missense | 2/4 | - | 1 |
12-49580461-G-C | c.159C>G | p.F53L | Missense | 2/4 | - | 1 |
12-49580461-G-T | c.159C>A | p.F53L | Missense | 2/4 | - | 1 |
12-49580462-A-C | c.158T>G | p.F53C | Missense | 2/4 | - | 1 |
12-49580462-A-G | c.158T>C | p.F53S | Missense | 2/4 | - | 1 |
12-49580462-A-T | c.158T>A | p.F53Y | Missense | 2/4 | - | 1 |
12-49580463-A-C | c.157T>G | p.F53V | Missense | 2/4 | - | 1 |
12-49580463-A-G | c.157T>C | p.F53L | Missense | 2/4 | - | 1 |
12-49580463-A-T | c.157T>A | p.F53I | Missense | 2/4 | - | 1 |
12-49580464-G-C | c.156C>G | p.F52L | Missense | 2/4 | - | 1 |
12-49580464-G-T | c.156C>A | p.F52L | Missense | 2/4 | - | 1 |
12-49580465-A-C | c.155T>G | p.F52C | Missense | 2/4 | - | 1 |
12-49580465-A-G | c.155T>C | p.F52S | Missense | 2/4 | - | 1 |
12-49580465-A-T | c.155T>A | p.F52Y | Missense | 2/4 | - | 1 |
12-49580466-A-C | c.154T>G | p.F52V | Missense | 2/4 | - | 1 |
12-49580466-A-G | c.154T>C | p.F52L | Missense | 2/4 | - | 1 |
12-49580466-A-T | c.154T>A | p.F52I | Missense | 2/4 | - | 1 |
12-49580468-G-C | c.152C>G | p.T51S | Missense | 2/4 | - | 1 |
12-49580468-G-A | c.152C>T | p.T51I | Missense | 2/4 | - | 1 |
12-49580468-G-T | c.152C>A | p.T51N | Missense | 2/4 | - | 1 |
12-49580469-T-A | c.151A>T | p.T51S | Missense | 2/4 | - | 1 |
12-49580469-T-C | c.151A>G | p.T51A | Missense | 2/4 | - | 1 |
12-49580469-T-G | c.151A>C | p.T51P | Missense | 2/4 | - | 1 |
12-49580470-G-C | c.150C>G | p.N50K | Missense | 2/4 | - | 1 |
12-49580470-G-T | c.150C>A | p.N50K | Missense | 2/4 | - | 1 |
12-49580471-T-A | c.149A>T | p.N50I | Missense | 2/4 | - | 1 |
12-49580471-T-C | c.149A>G | p.N50S | Missense | 2/4 | - | 1 |
12-49580471-T-G | c.149A>C | p.N50T | Missense | 2/4 | - | 1 |
12-49580472-T-A | c.148A>T | p.N50Y | Missense | 2/4 | - | 1 |
12-49580472-T-C | c.148A>G | p.N50D | Missense | 2/4 | - | 1 |
12-49580472-T-G | c.148A>C | p.N50H | Missense | 2/4 | - | 1 |
12-49580473-G-C | c.147C>G | p.F49L | Missense | 2/4 | - | 1 |
12-49580473-G-T | c.147C>A | p.F49L | Missense | 2/4 | - | 1 |
12-49580474-A-C | c.146T>G | p.F49C | Missense | 2/4 | - | 1 |
12-49580474-A-G | c.146T>C | p.F49S | Missense | 2/4 | - | 1 |
12-49580474-A-T | c.146T>A | p.F49Y | Missense | 2/4 | - | 1 |
12-49580475-A-C | c.145T>G | p.F49V | Missense | 2/4 | - | 1 |
12-49580475-A-G | c.145T>C | p.F49L | Missense | 2/4 | - | 1 |
12-49580475-A-T | c.145T>A | p.F49I | Missense | 2/4 | - | 1 |
12-49580477-G-A | c.143C>T | p.S48F | Missense | 2/4 | - | 1 |
12-49580477-G-C | c.143C>G | p.S48C | Missense | 2/4 | - | 1 |
12-49580477-G-T | c.143C>A | p.S48Y | Missense | 2/4 | - | 1 |
12-49580478-A-C | c.142T>G | p.S48A | Missense | 2/4 | - | 1 |
12-49580478-A-G | c.142T>C | p.S48P | Missense | 2/4 | - | 1 |
12-49580478-A-T | c.142T>A | p.S48T | Missense | 2/4 | - | 1 |
12-49580479-A-C | c.141T>G | p.D47E | Missense | 2/4 | - | 1 |
12-49580479-A-T | c.141T>A | p.D47E | Missense | 2/4 | - | 1 |
12-49580480-T-A | c.140A>T | p.D47V | Missense | 2/4 | - | 1 |
12-49580480-T-C | c.140A>G | p.D47G | Missense | 2/4 | - | 2 |
12-49580480-T-G | c.140A>C | p.D47A | Missense | 2/4 | - | 1 |
12-49580481-C-A | c.139G>T | p.D47Y | Missense | 2/4 | - | 1 |
12-49580481-C-G | c.139G>C | p.D47H | Missense | 2/4 | - | 1 |
12-49580481-C-T | c.139G>A | p.D47N | Missense | 2/4 | - | 1 |
12-49580482-A-C | c.138T>G | p.D46E | Missense | 2/4 | - | 1 |
12-49580482-A-T | c.138T>A | p.D46E | Missense | 2/4 | - | 1 |
12-49580483-T-A | c.137A>T | p.D46V | Missense | 2/4 | - | 1 |
12-49580483-T-C | c.137A>G | p.D46G | Missense | 2/4 | - | 1 |
12-49580483-T-G | c.137A>C | p.D46A | Missense | 2/4 | - | 1 |
12-49580484-C-A | c.136G>T | p.D46Y | Missense | 2/4 | - | 1 |
12-49580484-C-G | c.136G>C | p.D46H | Missense | 2/4 | - | 1 |
12-49580484-C-T | c.136G>A | p.D46N | Missense | 2/4 | - | 1 |
12-49580486-C-A | c.134G>T | p.G45V | Missense | 2/4 | - | 1 |
12-49580486-C-G | c.134G>C | p.G45A | Missense | 2/4 | - | 1 |
12-49580486-C-T | c.134G>A | p.G45E | Missense | 2/4 | - | 1 |
12-49580487-C-G | c.133G>C | p.G45R | Missense | 2/4 | - | 1 |
12-49580487-C-T | c.133G>A | p.G45R | Missense | 2/4 | - | 1 |
12-49580489-C-A | c.131G>T | p.G44V | Missense | 2/4 | - | 1 |
12-49580489-C-G | c.131G>C | p.G44A | Missense | 2/4 | - | 1 |
12-49580489-C-T | c.131G>A | p.G44E | Missense | 2/4 | - | 1 |
12-49580490-C-G | c.130G>C | p.G44R | Missense | 2/4 | - | 1 |
12-49580490-C-T | c.130G>A | p.G44R | Missense | 2/4 | - | 1 |
12-49580492-C-A | c.128G>T | p.G43V | Missense | 2/4 | - | 1 |
12-49580492-C-G | c.128G>C | p.G43A | Missense | 2/4 | - | 1 |
12-49580492-C-T | c.128G>A | p.G43E | Missense | 2/4 | - | 1 |
12-49580493-C-A | c.127G>T | p.G43W | Missense | 2/4 | - | 1 |
12-49580493-C-G | c.127G>C | p.G43R | Missense | 2/4 | - | 1 |
12-49580493-C-T | c.127G>A | p.G43R | Missense | 2/4 | - | 1 |
12-49580494-A-C | c.126T>G | p.I42M | Missense | 2/4 | - | 1 |
12-49580495-A-C | c.125T>G | p.I42S | Missense | 2/4 | - | 1 |
12-49580495-A-G | c.125T>C | p.I42T | Missense | 2/4 | - | 1 |
12-49580495-A-T | c.125T>A | p.I42N | Missense | 2/4 | - | 1 |
12-49580496-T-A | c.124A>T | p.I42F | Missense | 2/4 | - | 1 |
12-49580496-T-C | c.124A>G | p.I42V | Missense | 2/4 | - | 1 |
12-49580496-T-G | c.124A>C | p.I42L | Missense | 2/4 | - | 1 |
12-49580498-G-C | c.122C>G | p.T41S | Missense | 2/4 | - | 1 |
12-49580498-G-A | c.122C>T | p.T41I | Missense | 2/4 | - | 1 |
12-49580498-G-T | c.122C>A | p.T41N | Missense | 2/4 | - | 1 |
12-49580499-T-A | c.121A>T | p.T41S | Missense | 2/4 | - | 1 |
12-49580499-T-C | c.121A>G | p.T41A | Missense | 2/4 | - | 1 |
12-49580499-T-G | c.121A>C | p.T41P | Missense | 2/4 | - | 1 |
12-49580500-C-A | c.120G>T | p.K40N | Missense | 2/4 | - | 1 |
12-49580500-C-G | c.120G>C | p.K40N | Missense | 2/4 | - | 1 |
12-49580500-CTT-AAA | c.118_120delinsTTT | p.K40F | Missense | 2/4 | - | 1 |
12-49580501-T-A | c.119A>T | p.K40M | Missense | 2/4 | - | 1 |
12-49580501-T-C | c.119A>G | p.K40R | Missense | 2/4 | - | 2 |
12-49580501-T-G | c.119A>C | p.K40T | Missense | 2/4 | - | 1 |
12-49580501-TT-GC | c.118_119delinsGC | p.K40A | Missense | 2/4 | - | 2 |
12-49580502-T-C | c.118A>G | p.K40E | Missense | 2/4 | - | 1 |
12-49580502-T-G | c.118A>C | p.K40Q | Missense | 2/4 | - | 3 |
12-49580502-T-A | c.118A>T | p.K40* | Nonsense | 2/4 | - | 1 |
12-49580503-G-C | c.117C>G | p.D39E | Missense | 2/4 | - | 1 |
12-49580503-G-T | c.117C>A | p.D39E | Missense | 2/4 | - | 1 |
12-49580504-T-A | c.116A>T | p.D39V | Missense | 2/4 | - | 1 |
12-49580504-T-C | c.116A>G | p.D39G | Missense | 2/4 | - | 1 |
12-49580504-T-G | c.116A>C | p.D39A | Missense | 2/4 | - | 1 |
12-49580505-C-A | c.115G>T | p.D39Y | Missense | 2/4 | - | 1 |
12-49580505-C-G | c.115G>C | p.D39H | Missense | 2/4 | - | 1 |
12-49580505-C-T | c.115G>A | p.D39N | Missense | 2/4 | - | 1 |
12-49580506-A-C | c.114T>G | p.S38R | Missense | 2/4 | - | 1 |
12-49580506-A-T | c.114T>A | p.S38R | Missense | 2/4 | - | 1 |
12-49580507-C-A | c.113G>T | p.S38I | Missense | 2/4 | - | 1 |
12-49580507-C-G | c.113G>C | p.S38T | Missense | 2/4 | - | 1 |
12-49580507-C-T | c.113G>A | p.S38N | Missense | 2/4 | - | 1 |
12-49580508-T-A | c.112A>T | p.S38C | Missense | 2/4 | - | 1 |
12-49580508-T-C | c.112A>G | p.S38G | Missense | 2/4 | - | 1 |
12-49580508-T-G | c.112A>C | p.S38R | Missense | 2/4 | - | 1 |
12-49580509-TG-AT | c.110_111delinsAT | p.P37H | Missense | 2/4 | - | 1 |
12-49580510-G-A | c.110C>T | p.P37L | Missense | 2/4 | - | 1 |
12-49580510-G-C | c.110C>G | p.P37R | Missense | 2/4 | - | 2 |
12-49580510-G-T | c.110C>A | p.P37Q | Missense | 2/4 | - | 1 |
12-49580511-G-A | c.109C>T | p.P37S | Missense | 2/4 | - | 1 |
12-49580511-G-C | c.109C>G | p.P37A | Missense | 2/4 | - | 1 |
12-49580511-G-T | c.109C>A | p.P37T | Missense | 2/4 | - | 1 |
12-49580512-C-A | c.108G>T | p.M36I | Missense | 2/4 | - | 1 |
12-49580512-C-G | c.108G>C | p.M36I | Missense | 2/4 | - | 1 |
12-49580512-C-T | c.108G>A | p.M36I | Missense | 2/4 | - | 1 |
12-49580513-A-C | c.107T>G | p.M36R | Missense | 2/4 | - | 1 |
12-49580513-A-G | c.107T>C | p.M36T | Missense | 2/4 | - | 1 |
12-49580513-A-T | c.107T>A | p.M36K | Missense | 2/4 | - | 1 |
12-49580514-T-A | c.106A>T | p.M36L | Missense | 2/4 | - | 1 |
12-49580514-T-G | c.106A>C | p.M36L | Missense | 2/4 | - | 1 |
12-49580514-T-C | c.106A>G | p.M36V | Missense | 2/4 | - | 1 |
12-49580515-C-A | c.105G>T | p.Q35H | Missense | 2/4 | - | 1 |
12-49580515-C-G | c.105G>C | p.Q35H | Missense | 2/4 | - | 1 |
12-49580516-T-A | c.104A>T | p.Q35L | Missense | 2/4 | - | 1 |
12-49580516-T-C | c.104A>G | p.Q35R | Missense | 2/4 | - | 1 |
12-49580516-T-G | c.104A>C | p.Q35P | Missense | 2/4 | - | 1 |
12-49580517-G-C | c.103C>G | p.Q35E | Missense | 2/4 | - | 1 |
12-49580517-G-T | c.103C>A | p.Q35K | Missense | 2/4 | - | 1 |
12-49580518-G-C | c.102C>G | p.G34= | Synonymous | 2/4 | - | 1 |
12-49580518-G-T | c.102C>A | p.G34= | Synonymous | 2/4 | - | 1 |
12-49580519-C-A | c.101G>T | p.G34V | Missense | 2/4 | - | 1 |
12-49580519-C-G | c.101G>C | p.G34A | Missense | 2/4 | - | 1 |
12-49580519-C-T | c.101G>A | p.G34D | Missense | 2/4 | - | 1 |
12-49580520-C-A | c.100G>T | p.G34C | Missense | 2/4 | - | 1 |
12-49580520-C-G | c.100G>C | p.G34R | Missense | 2/4 | - | 1 |
12-49580520-C-T | c.100G>A | p.G34S | Missense | 2/4 | - | 1 |
12-49580521-A-C | c.99T>G | p.D33E | Missense | 2/4 | - | 1 |
12-49580521-A-T | c.99T>A | p.D33E | Missense | 2/4 | - | 1 |
12-49580522-T-A | c.98A>T | p.D33V | Missense | 2/4 | - | 1 |
12-49580522-T-C | c.98A>G | p.D33G | Missense | 2/4 | - | 1 |
12-49580522-T-G | c.98A>C | p.D33A | Missense | 2/4 | - | 1 |
12-49580523-C-A | c.97G>T | p.D33Y | Missense | 2/4 | - | 1 |
12-49580523-C-G | c.97G>C | p.D33H | Missense | 2/4 | - | 1 |
12-49580523-C-T | c.97G>A | p.D33N | Missense | 2/4 | - | 1 |
12-49580525-G-A | c.95C>T | p.P32L | Missense | 2/4 | - | 1 |
12-49580525-G-C | c.95C>G | p.P32R | Missense | 2/4 | - | 1 |
12-49580525-G-T | c.95C>A | p.P32H | Missense | 2/4 | - | 1 |
12-49580526-G-A | c.94C>T | p.P32S | Missense | 2/4 | - | 1 |
12-49580526-G-C | c.94C>G | p.P32A | Missense | 2/4 | - | 1 |
12-49580526-G-T | c.94C>A | p.P32T | Missense | 2/4 | - | 1 |
12-49580527-C-A | c.93G>T | p.Q31H | Missense | 2/4 | - | 1 |
12-49580527-C-G | c.93G>C | p.Q31H | Missense | 2/4 | - | 1 |
12-49580528-T-A | c.92A>T | p.Q31L | Missense | 2/4 | - | 1 |
12-49580528-T-C | c.92A>G | p.Q31R | Missense | 2/4 | - | 1 |
12-49580528-T-G | c.92A>C | p.Q31P | Missense | 2/4 | - | 1 |
12-49580529-G-C | c.91C>G | p.Q31E | Missense | 2/4 | - | 1 |
12-49580529-G-T | c.91C>A | p.Q31K | Missense | 2/4 | - | 1 |
12-49580530-G-C | c.90C>G | p.I30M | Missense | 2/4 | - | 1 |
12-49580531-A-C | c.89T>G | p.I30S | Missense | 2/4 | - | 1 |
12-49580531-A-G | c.89T>C | p.I30T | Missense | 2/4 | - | 1 |
12-49580531-A-T | c.89T>A | p.I30N | Missense | 2/4 | - | 1 |
12-49580532-T-A | c.88A>T | p.I30F | Missense | 2/4 | - | 1 |
12-49580532-T-C | c.88A>G | p.I30V | Missense | 2/4 | - | 1 |
12-49580532-T-G | c.88A>C | p.I30L | Missense | 2/4 | - | 1 |
12-49580534-C-A | c.86G>T | p.G29V | Missense | 2/4 | - | 1 |
12-49580534-C-G | c.86G>C | p.G29A | Missense | 2/4 | - | 1 |
12-49580534-C-T | c.86G>A | p.G29D | Missense | 2/4 | - | 1 |
12-49580535-C-A | c.85G>T | p.G29C | Missense | 2/4 | - | 1 |
12-49580535-C-G | c.85G>C | p.G29R | Missense | 2/4 | - | 1 |
12-49580535-C-T | c.85G>A | p.G29S | Missense | 2/4 | - | 1 |
12-49580536-G-C | c.84C>G | p.H28Q | Missense | 2/4 | - | 1 |
12-49580536-G-T | c.84C>A | p.H28Q | Missense | 2/4 | - | 1 |
12-49580537-T-A | c.83A>T | p.H28L | Missense | 2/4 | - | 1 |
12-49580537-T-C | c.83A>G | p.H28R | Missense | 2/4 | - | 1 |
12-49580537-T-G | c.83A>C | p.H28P | Missense | 2/4 | - | 1 |
12-49580538-G-A | c.82C>T | p.H28Y | Missense | 2/4 | - | 1 |
12-49580538-G-C | c.82C>G | p.H28D | Missense | 2/4 | - | 1 |
12-49580538-G-T | c.82C>A | p.H28N | Missense | 2/4 | - | 1 |
12-49580539-T-A | c.81A>T | p.E27D | Missense | 2/4 | - | 1 |
12-49580539-T-G | c.81A>C | p.E27D | Missense | 2/4 | - | 1 |
12-49580540-T-A | c.80A>T | p.E27V | Missense | 2/4 | - | 1 |
12-49580540-T-C | c.80A>G | p.E27G | Missense | 2/4 | - | 1 |
12-49580540-T-G | c.80A>C | p.E27A | Missense | 2/4 | - | 1 |
12-49580541-C-G | c.79G>C | p.E27Q | Missense | 2/4 | - | 5 |
12-49580541-C-T | c.79G>A | p.E27K | Missense | 2/4 | - | 1 |
12-49580541-C-A | c.79G>T | p.E27* | Nonsense | 2/4 | - | 1 |
12-49580543-A-C | c.77T>G | p.L26R | Missense | 2/4 | - | 1 |
12-49580543-A-G | c.77T>C | p.L26P | Missense | 2/4 | - | 1 |
12-49580543-A-T | c.77T>A | p.L26Q | Missense | 2/4 | - | 1 |
12-49580544-G-C | c.76C>G | p.L26V | Missense | 2/4 | - | 1 |
12-49580544-G-T | c.76C>A | p.L26M | Missense | 2/4 | - | 1 |
12-49580544-G-A | c.76C>T | p.L26= | Synonymous | 2/4 | - | 1 |
12-49580545-G-C | c.75C>G | p.C25W | Missense | 2/4 | - | 1 |
12-49580546-C-G | c.74G>C | p.C25S | Missense | 2/4 | - | 1 |
12-49580546-C-A | c.74G>T | p.C25F | Missense | 2/4 | - | 4 |
12-49580546-C-T | c.74G>A | p.C25Y | Missense | 2/4 | - | 1 |
12-49580547-A-C | c.73T>G | p.C25G | Missense | 2/4 | - | 1 |
12-49580547-A-G | c.73T>C | p.C25R | Missense | 2/4 | - | 1 |
12-49580547-A-T | c.73T>A | p.C25S | Missense | 2/4 | - | 1 |
12-49580549-T-A | c.71A>T | p.Y24F | Missense | 2/4 | - | 1 |
12-49580549-T-C | c.71A>G | p.Y24C | Missense | 2/4 | - | 1 |
12-49580549-T-G | c.71A>C | p.Y24S | Missense | 2/4 | - | 1 |
12-49580550-A-C | c.70T>G | p.Y24D | Missense | 2/4 | - | 1 |
12-49580550-A-G | c.70T>C | p.Y24H | Missense | 2/4 | - | 1 |
12-49580550-A-T | c.70T>A | p.Y24N | Missense | 2/4 | - | 1 |
12-49580552-AG-GC | c.67_68delinsGC | p.L23A | Missense | 2/4 | - | 1 |
12-49580552-A-C | c.68T>G | p.L23R | Missense | 2/4 | - | 1 |
12-49580552-A-G | c.68T>C | p.L23P | Missense | 2/4 | - | 1 |
12-49580552-A-T | c.68T>A | p.L23H | Missense | 2/4 | - | 1 |
12-49580553-G-A | c.67C>T | p.L23F | Missense | 2/4 | - | 1 |
12-49580553-G-C | c.67C>G | p.L23V | Missense | 2/4 | - | 1 |
12-49580553-G-T | c.67C>A | p.L23I | Missense | 2/4 | - | 1 |
12-49580554-C-A | c.66G>T | p.E22D | Missense | 2/4 | - | 1 |
12-49580554-C-G | c.66G>C | p.E22D | Missense | 2/4 | - | 1 |
12-49580555-T-A | c.65A>T | p.E22V | Missense | 2/4 | - | 1 |
12-49580555-T-C | c.65A>G | p.E22G | Missense | 2/4 | - | 1 |
12-49580555-T-G | c.65A>C | p.E22A | Missense | 2/4 | - | 1 |
12-49580556-C-G | c.64G>C | p.E22Q | Missense | 2/4 | - | 1 |
12-49580556-C-T | c.64G>A | p.E22K | Missense | 2/4 | - | 1 |
12-49580556-C-A | c.64G>T | p.E22* | Nonsense | 2/4 | - | 1 |
12-49580557-C-A | c.63G>T | p.W21C | Missense | 2/4 | - | 1 |
12-49580557-C-G | c.63G>C | p.W21C | Missense | 2/4 | - | 1 |
12-49580558-C-A | c.62G>T | p.W21L | Missense | 2/4 | - | 1 |
12-49580558-C-G | c.62G>C | p.W21S | Missense | 2/4 | - | 1 |
12-49580559-A-C | c.61T>G | p.W21G | Missense | 2/4 | - | 1 |
12-49580559-A-G | c.61T>C | p.W21R | Missense | 2/4 | - | 1 |
12-49580559-A-T | c.61T>A | p.W21R | Missense | 2/4 | - | 1 |
12-49580560-G-C | c.60C>G | p.C20W | Missense | 2/4 | - | 1 |
12-49580561-C-G | c.59G>C | p.C20S | Missense | 2/4 | - | 1 |
12-49580561-C-A | c.59G>T | p.C20F | Missense | 2/4 | - | 1 |
12-49580561-C-T | c.59G>A | p.C20Y | Missense | 2/4 | - | 1 |
12-49580562-A-C | c.58T>G | p.C20G | Missense | 2/4 | - | 1 |
12-49580562-A-G | c.58T>C | p.C20R | Missense | 2/4 | - | 1 |
12-49580562-A-T | c.58T>A | p.C20S | Missense | 2/4 | - | 1 |
12-49580564-G-A | c.56C>T | p.A19V | Missense | 2/4 | - | 1 |
12-49580564-G-C | c.56C>G | p.A19G | Missense | 2/4 | - | 1 |