Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
4-101944669-T-A | c.*2353A>T | - | 3-UTRSNV | 14/14 | - | 3 |
4-101945139-T-G | c.*1883A>C | - | 3-UTRSNV | 14/14 | - | 1 |
4-101945374-G-A | c.*1648C>T | - | 3-UTRSNV | 14/14 | - | 1 |
4-101945734-A-C | c.*1288T>G | - | 3-UTRSNV | 14/14 | - | 1 |
4-101945734-A-G | c.*1288T>C | - | 3-UTRSNV | 14/14 | - | 1 |
4-101945734-A-T | c.*1288T>A | - | 3-UTRSNV | 14/14 | - | 1 |
4-101946102-A-T | c.*920T>A | - | 3-UTRSNV | 14/14 | - | 1 |
4-101946103-T-A | c.*919A>T | - | 3-UTRSNV | 14/14 | - | 1 |
4-101946256-G-A | c.*766C>T | - | 3-UTRSNV | 14/14 | - | 1 |
4-101946256-G-T | c.*766C>A | - | 3-UTRSNV | 14/14 | - | 1 |
4-101946461-G-GTTTGT | c.*560_*561insACAAA | - | 3-UTRInsertion | 14/14 | - | 2 |
4-101946865-A-G | c.*157T>C | - | 3-UTRSNV | 14/14 | - | 1 |
4-101946948-T-C | c.*74A>G | - | 3-UTRSNV | 14/14 | - | 4 |
4-101946970-C-T | c.*52G>A | - | 3-UTRSNV | 14/14 | - | 1 |
4-101946972-C-A | c.*50G>T | - | 3-UTRSNV | 14/14 | - | 1 |
4-101947012-C-A | c.*10G>T | - | 3-UTRSNV | 14/14 | - | 1 |
4-101947012-C-T | c.*10G>A | - | 3-UTRSNV | 14/14 | - | 1 |
4-101947023-C-A | c.1565G>T | p.*522Lext*20 | Missense | 14/14 | - | 1 |
4-101947023-C-T | c.1565G>A | p.*522= | Synonymous | 14/14 | - | 3 |
4-101947027-G-A | c.1561C>T | p.Q521* | Nonsense | 14/14 | - | 1 |
4-101947028-A-G | c.1560T>C | p.I520= | Synonymous | 14/14 | - | 4 |
4-101947028-A-T | c.1560T>A | p.I520= | Synonymous | 14/14 | - | 1 |
4-101947030-T-A | c.1558A>T | p.I520F | Missense | 14/14 | - | 1 |
4-101947030-T-G | c.1558A>C | p.I520L | Missense | 14/14 | - | 1 |
4-101947034-G-A | c.1554C>T | p.S518= | Synonymous | 14/14 | - | 1 |
4-101947035-C-T | c.1553G>A | p.S518N | Missense | 14/14 | - | 1 |
4-101947051-T-A | c.1537A>T | p.N513Y | Missense | 14/14 | - | 1 |
4-101947055-G-C | c.1533C>G | p.D511E | Missense | 14/14 | - | 2 |
4-101947057-C-T | c.1531G>A | p.D511N | Missense | 14/14 | - | 1 |
4-101947058-C-A | c.1530G>T | p.T510= | Synonymous | 14/14 | - | 1 |
4-101947058-C-G | c.1530G>C | p.T510= | Synonymous | 14/14 | - | 1 |
4-101947058-C-T | c.1530G>A | p.T510= | Synonymous | 14/14 | - | 2 |
4-101947059-G-A | c.1529C>T | p.T510M | Missense | 14/14 | - | 3 |
4-101947059-G-C | c.1529C>G | p.T510R | Missense | 14/14 | - | 1 |
4-101947062-C-A | c.1526G>T | p.G509V | Missense | 14/14 | - | 3 |
4-101947063-C-T | c.1525G>A | p.G509S | Missense | 14/14 | - | 1 |
4-101947064-G-A | c.1524C>T | p.N508= | Synonymous | 14/14 | - | 3 |
4-101947065-T-C | c.1523A>G | p.N508S | Missense | 14/14 | - | 1 |
4-101947068-G-T | c.1520C>A | p.T507N | Missense | 14/14 | - | 1 |
4-101947074-G-C | c.1514C>G | p.S505* | Nonsense | 14/14 | - | 1 |
4-101947075-A-T | c.1513T>A | p.S505T | Missense | 14/14 | - | 1 |
4-101947077-G-T | c.1511C>A | p.T504N | Missense | 14/14 | - | 1 |
4-101947078-T-C | c.1510A>G | p.T504A | Missense | 14/14 | - | 6 |
4-101947083-G-T | c.1505C>A | p.A502D | Missense | 14/14 | - | 1 |
4-101947088-G-C | c.1500C>G | p.N500K | Missense | 14/14 | - | 1 |
4-101947095-G-A | c.1493C>T | p.S498F | Missense | 14/14 | - | 3 |
4-101947097-G-A | c.1491C>T | p.N497= | Synonymous | 14/14 | - | 2 |
4-101947102-G-A | c.1486C>T | p.L496F | Missense | 14/14 | - | 2 |
4-101947102-G-C | c.1486C>G | p.L496V | Missense | 14/14 | - | 1 |
4-101947102-G-T | c.1486C>A | p.L496I | Missense | 14/14 | - | 1 |
4-101947106-G-T | c.1482C>A | p.A494= | Synonymous | 14/14 | - | 2 |
4-101947107-G-T | c.1481C>A | p.A494D | Missense | 14/14 | - | 1 |
4-101947108-C-T | c.1480G>A | p.A494T | Missense | 14/14 | - | 2 |
4-101947111-C-T | c.1477G>A | p.D493N | Missense | 14/14 | - | 2 |
4-101947113-G-C | c.1475C>G | p.S492C | Missense | 14/14 | - | 1 |
4-101947122-G-A | c.1466C>T | p.A489V | Missense | 14/14 | - | 3 |
4-101947123-C-A | c.1465G>T | p.A489S | Missense | 14/14 | - | 1 |
4-101947123-C-G | c.1465G>C | p.A489P | Missense | 14/14 | - | 2 |
4-101947124-A-G | c.1464T>C | p.D488= | Synonymous | 14/14 | - | 1 |
4-101947129-T-C | c.1459A>G | p.R487G | Missense | 14/14 | - | 2 |
4-101947128-CTGCGAGGCGGCATCCTCTCAT-C | c.1439_1459del | p.N480_R486del | InFrameDeletion | 14/14 | - | 1 |
4-101947131-C-T | c.1457G>A | p.R486H | Missense | 14/14 | - | 1 |
4-101947129-TGCGAGGCGGCATCCTCTCATTAATTCGGTCTAA-T | c.1426_1458del | p.L476_R486del | InFrameDeletion | 14/14 | - | 1 |
4-101947132-G-A | c.1456C>T | p.R486C | Missense | 14/14 | - | 6 |
4-101947132-G-T | c.1456C>A | p.R486S | Missense | 14/14 | - | 1 |
4-101947136-C-T | c.1452G>A | p.P484= | Synonymous | 14/14 | - | 2 |
4-101947137-G-A | c.1451C>T | p.P484L | Missense | 14/14 | - | 7 |
4-101947138-G-A | c.1450C>T | p.P484S | Missense | 14/14 | - | 5 |
4-101947139-C-A | c.1449G>T | p.M483I | Missense | 14/14 | - | 2 |
4-101947139-C-G | c.1449G>C | p.M483I | Missense | 14/14 | - | 1 |
4-101947139-C-T | c.1449G>A | p.M483I | Missense | 14/14 | - | 1 |
4-101947144-T-A | c.1444A>T | p.R482W | Missense | 14/14 | - | 1 |
4-101947146-T-C | c.1442A>G | p.E481G | Missense | 14/14 | - | 1 |
4-101947147-C-A | c.1441G>T | p.E481* | Nonsense | 14/14 | - | 2 |
4-101947147-C-T | c.1441G>A | p.E481K | Missense | 14/14 | - | 4 |
4-101947148-A-C | c.1440T>G | p.N480K | Missense | 14/14 | - | 3 |
4-101947148-A-T | c.1440T>A | p.N480K | Missense | 14/14 | - | 2 |
4-101947149-T-A | c.1439A>T | p.N480I | Missense | 14/14 | - | 3 |
4-101947155-C-A | c.1433G>T | p.R478L | Missense | 14/14 | - | 3 |
4-101947155-C-T | c.1433G>A | p.R478Q | Missense | 14/14 | - | 1 |
4-101947156-G-A | c.1432C>T | p.R478* | Nonsense | 14/14 | - | 3 |
4-101947158-T-A | c.1430A>T | p.D477V | Missense | 14/14 | - | 1 |
4-101947158-T-G | c.1430A>C | p.D477A | Missense | 14/14 | - | 2 |
4-101947159-C-A | c.1429G>T | p.D477Y | Missense | 14/14 | - | 4 |
4-101947159-C-G | c.1429G>C | p.D477H | Missense | 14/14 | - | 2 |
4-101947162-AAGCCCTT-A | c.1420_1426del | p.K474* | Frameshift | 14/14 | - | 2 |
4-101947170-G-T | c.1418C>A | p.A473D | Missense | 14/14 | - | 2 |
4-101947171-C-T | c.1417G>A | p.A473T | Missense | 14/14 | - | 5 |
4-101947172-T-C | c.1416A>G | p.E472= | Synonymous | 14/14 | - | 1 |
4-101947176-T-C | c.1412A>G | p.E471G | Missense | 14/14 | - | 1 |
4-101947176-T-G | c.1412A>C | p.E471A | Missense | 14/14 | - | 1 |
4-101947177-C-A | c.1411G>T | p.E471* | Nonsense | 14/14 | - | 1 |
4-101947178-G-A | c.1410C>T | p.F470= | Synonymous | 14/14 | - | 2 |
4-101947178-G-C | c.1410C>G | p.F470L | Missense | 14/14 | - | 2 |
4-101947178-G-T | c.1410C>A | p.F470L | Missense | 14/14 | - | 2 |
4-101947180-A-G | c.1408T>C | p.F470L | Missense | 14/14 | - | 5 |
4-101947181-G-A | c.1407C>T | p.S469= | Synonymous | 14/14 | - | 1 |
4-101947182-C-A | c.1406G>T | p.S469I | Missense | 14/14 | - | 1 |
4-101947190-C-CT | c.1397dup | p.I467Dfs*3 | Frameshift | 14/14 | - | 1 |
4-101947192-T-A | c.1396A>T | p.K466* | Nonsense | 14/14 | - | 2 |
4-101947192-T-C | c.1396A>G | p.K466E | Missense | 14/14 | - | 2 |
4-101947195-G-A | c.1393C>T | p.H465Y | Missense | 14/14 | - | 1 |
4-101947200-G-A | c.1388C>T | p.P463L | Missense | 14/14 | - | 2 |
4-101947208-TCC-CCA | c.1378_1380delinsTGG | p.G460W | Missense | 14/14 | - | 1 |
4-101947209-C-T | c.1379G>A | p.G460E | Missense | 14/14 | - | 2 |
4-101947210-C-G | c.1378G>C | p.G460R | Missense | 14/14 | - | 1 |
4-101947210-C-T | c.1378G>A | p.G460R | Missense | 14/14 | - | 1 |
4-101947217-A-G | c.1371T>C | p.A457= | Synonymous | 14/14 | - | 1 |
4-101947217-AG-CT | c.1370_1371inv | p.A457E | Missense | 14/14 | - | 1 |
4-101947217-A-T | c.1371T>A | p.A457= | Synonymous | 14/14 | - | 3 |
4-101949843-G-T | c.1369+480C>A | - | IntronicSNV | - | 13/13 | 1 |
4-101950220-T-C | c.1369+103A>G | - | IntronicSNV | - | 13/13 | 1 |
4-101950323-C-T | c.1369G>A | p.A457T | Missense | 13/14 | - | 2 |
4-101950330-AG-CT | c.1361_1362inv | p.A454E | Missense | 13/14 | - | 1 |
4-101950331-G-T | c.1361C>A | p.A454D | Missense | 13/14 | - | 1 |
4-101950332-C-T | c.1360G>A | p.A454T | Missense | 13/14 | - | 1 |
4-101950333-C-A | c.1359G>T | p.E453D | Missense | 13/14 | - | 1 |
4-101950339-AG-CT | c.1352_1353inv | p.A451E | Missense | 13/14 | - | 1 |
4-101950343-T-C | c.1349A>G | p.E450G | Missense | 13/14 | - | 7 |
4-101950344-C-G | c.1348G>C | p.E450Q | Missense | 13/14 | - | 3 |
4-101950347-C-A | c.1345G>T | p.V449F | Missense | 13/14 | - | 1 |
4-101950351-AG-CT | c.1340_1341inv | p.A447E | Missense | 13/14 | - | 1 |
4-101950354-T-C | c.1340-2A>G | - | IntronicSNV | - | 12/13 | 1 |
4-101950536-A-C | c.1340-184T>G | - | IntronicSNV | - | 12/13 | 1 |
4-101953322-C-T | c.1339+102G>A | - | IntronicSNV | - | 12/13 | 4 |
4-101953361-G-T | c.1339+63C>A | - | IntronicSNV | - | 12/13 | 1 |
4-101953424-C-A | c.1339G>T | p.A447S | Missense | 12/14 | - | 2 |
4-101953424-C-G | c.1339G>C | p.A447P | Missense | 12/14 | - | 1 |
4-101953424-C-T | c.1339G>A | p.A447T | Missense | 12/14 | - | 6 |
4-101953425-G-A | c.1338C>T | p.S446= | Synonymous | 12/14 | - | 1 |
4-101953426-C-T | c.1337G>A | p.S446N | Missense | 12/14 | - | 1 |
4-101953430-G-A | c.1333C>T | p.Q445* | Nonsense | 12/14 | - | 7 |
4-101953431-CAG-AAA | c.1330_1332delinsTTT | p.L444F | Missense | 12/14 | - | 2 |
4-101953439-G-A | c.1324C>T | p.Q442* | Nonsense | 12/14 | - | 2 |
4-101953442-T-A | c.1321A>T | p.K441* | Nonsense | 12/14 | - | 1 |
4-101953444-C-G | c.1319G>C | p.G440A | Missense | 12/14 | - | 1 |
4-101953444-C-T | c.1319G>A | p.G440E | Missense | 12/14 | - | 1 |
4-101953445-C-A | c.1318G>T | p.G440W | Missense | 12/14 | - | 1 |
4-101953446-T-A | c.1317A>T | p.G439= | Synonymous | 12/14 | - | 1 |
4-101953446-T-C | c.1317A>G | p.G439= | Synonymous | 12/14 | - | 1 |
4-101953446-T-G | c.1317A>C | p.G439= | Synonymous | 12/14 | - | 1 |
4-101953448-CCAGAA-C | c.1311_1315del | p.S438Rfs*11 | Frameshift | 12/14 | - | 1 |
4-101953453-A-T | c.1310T>A | p.L437H | Missense | 12/14 | - | 1 |
4-101953457-C-T | c.1306G>A | p.V436I | Missense | 12/14 | - | 1 |
4-101953459-C-A | c.1304G>T | p.G435V | Missense | 12/14 | - | 1 |
4-101953460-C-G | c.1303G>C | p.G435R | Missense | 12/14 | - | 1 |
4-101953460-C-T | c.1303G>A | p.G435R | Missense | 12/14 | - | 1 |
4-101953465-G-C | c.1298C>G | p.P433R | Missense | 12/14 | - | 1 |
4-101953467-G-A | c.1296C>T | p.L432= | Synonymous | 12/14 | - | 1 |
4-101953469-G-A | c.1294C>T | p.L432F | Missense | 12/14 | - | 2 |
4-101953470-C-A | c.1293G>T | p.M431I | Missense | 12/14 | - | 5 |
4-101953470-C-G | c.1293G>C | p.M431I | Missense | 12/14 | - | 3 |
4-101953470-C-T | c.1293G>A | p.M431I | Missense | 12/14 | - | 3 |
4-101953472-T-TG | c.1290dup | p.M431Hfs*20 | Frameshift | 12/14 | - | 5 |
4-101953482-G-A | c.1281C>T | p.T427= | Synonymous | 12/14 | - | 2 |
4-101953482-G-C | c.1281C>G | p.T427= | Synonymous | 12/14 | - | 1 |
4-101953482-G-T | c.1281C>A | p.T427= | Synonymous | 12/14 | - | 1 |
4-101953479-T-TG | c.1283dup | p.T429Nfs*22 | Frameshift | 12/14 | - | 1 |
4-101953486-AA-GG | c.1276_1277delinsCC | p.L426P | Missense | 12/14 | - | 1 |
4-101953490-C-G | c.1273G>C | p.G425R | Missense | 12/14 | - | 1 |
4-101953497-C-T | c.1266G>A | p.T422= | Synonymous | 12/14 | - | 1 |
4-101953498-G-A | c.1265C>T | p.T422M | Missense | 12/14 | - | 3 |
4-101953507-C-T | c.1256G>A | p.S419N | Missense | 12/14 | - | 1 |
4-101953508-T-A | c.1255A>T | p.S419C | Missense | 12/14 | - | 1 |
4-101953508-T-TA | c.1254_1255insT | p.S419* | Nonsense | 12/14 | - | 2 |
4-101953506-ACT-A | c.1255_1256del | p.S419Cfs*31 | Frameshift | 12/14 | - | 1 |
4-101953513-C-A | c.1250G>T | p.S417I | Missense | 12/14 | - | 1 |
4-101953518-T-C | c.1245A>G | p.E415= | Synonymous | 12/14 | - | 1 |
4-101953776-C-A | c.1242-255G>T | - | IntronicSNV | - | 11/13 | 1 |
4-101957814-C-T | c.1241+3825G>A | - | IntronicSNV | - | 11/13 | 1 |
4-101957820-T-C | c.1241+3819A>G | - | IntronicSNV | - | 11/13 | 1 |
4-101958803-C-G | c.1241+2836G>C | - | IntronicSNV | - | 11/13 | 1 |
4-101961640-T-A | c.1240A>T | p.R414* | Nonsense | 11/14 | - | 1 |
4-101961641-G-C | c.1239C>G | p.L413= | Synonymous | 11/14 | - | 1 |
4-101961647-T-A | c.1233A>T | p.S411= | Synonymous | 11/14 | - | 1 |
4-101961647-T-C | c.1233A>G | p.S411= | Synonymous | 11/14 | - | 1 |
4-101961647-T-G | c.1233A>C | p.S411= | Synonymous | 11/14 | - | 1 |
4-101961652-A-G | c.1228T>C | p.F410L | Missense | 11/14 | - | 1 |
4-101961653-C-A | c.1227G>T | p.V409= | Synonymous | 11/14 | - | 1 |
4-101961653-C-G | c.1227G>C | p.V409= | Synonymous | 11/14 | - | 1 |
4-101961653-C-T | c.1227G>A | p.V409= | Synonymous | 11/14 | - | 1 |
4-101961655-C-A | c.1225G>T | p.V409L | Missense | 11/14 | - | 1 |
4-101961655-C-G | c.1225G>C | p.V409L | Missense | 11/14 | - | 1 |
4-101961665-T-TGC | c.1214_1215insGC | p.M406Qfs*17 | Frameshift | 11/14 | - | 1 |
4-101961669-C-T | c.1211G>A | p.G404D | Missense | 11/14 | - | 1 |
4-101961672-A-G | c.1208T>C | p.I403T | Missense | 11/14 | - | 1 |
4-101961673-T-G | c.1207A>C | p.I403L | Missense | 11/14 | - | 1 |
4-101961678-C-T | c.1202G>A | p.R401Q | Missense | 11/14 | - | 2 |
4-101961679-G-A | c.1201C>T | p.R401* | Nonsense | 11/14 | - | 1 |
4-101961680-G-C | c.1200C>G | p.I400M | Missense | 11/14 | - | 1 |
4-101961685-T-G | c.1195A>C | p.K399Q | Missense | 11/14 | - | 3 |
4-101961688-T-C | c.1192A>G | p.N398D | Missense | 11/14 | - | 1 |
4-101961690-C-T | c.1190G>A | p.R397K | Missense | 11/14 | - | 4 |
4-101961691-T-C | c.1189A>G | p.R397G | Missense | 11/14 | - | 1 |
4-101961700-C-G | c.1180G>C | p.E394Q | Missense | 11/14 | - | 2 |
4-101961705-CG-TA | c.1174_1175delinsTA | p.R392* | Nonsense | 11/14 | - | 1 |
4-101961708-G-A | c.1172C>T | p.A391V | Missense | 11/14 | - | 2 |
4-101961709-C-T | c.1171G>A | p.A391T | Missense | 11/14 | - | 1 |
4-101961713-A-C | c.1167T>G | p.A389= | Synonymous | 11/14 | - | 1 |
4-101961713-A-G | c.1167T>C | p.A389= | Synonymous | 11/14 | - | 1 |
4-101961713-A-T | c.1167T>A | p.A389= | Synonymous | 11/14 | - | 1 |
4-101961714-G-A | c.1166C>T | p.A389V | Missense | 11/14 | - | 1 |
4-101961721-C-T | c.1159G>A | p.A387T | Missense | 11/14 | - | 1 |
4-101961947-C-T | c.1157-224G>A | - | IntronicSNV | - | 10/13 | 1 |
4-101963249-A-C | c.1157-1526T>G | - | IntronicSNV | - | 10/13 | 1 |
4-101963249-A-T | c.1157-1526T>A | - | IntronicSNV | - | 10/13 | 1 |
4-101978003-A-C | c.1156+4241T>G | - | IntronicSNV | - | 10/13 | 1 |
4-101979091-C-G | c.1156+3153G>C | - | IntronicSNV | - | 10/13 | 1 |
4-101982252-C-A | c.1148G>T | p.G383V | Missense | 10/14 | - | 1 |
4-101982259-C-T | c.1141G>A | p.E381K | Missense | 10/14 | - | 1 |
4-101982264-G-A | c.1136C>T | p.S379L | Missense | 10/14 | - | 2 |
4-101982273-T-C | c.1127A>G | p.E376G | Missense | 10/14 | - | 1 |
4-101982274-C-T | c.1126G>A | p.E376K | Missense | 10/14 | - | 1 |
4-101982280-C-G | c.1120G>C | p.D374H | Missense | 10/14 | - | 1 |
4-101982282-G-C | c.1118C>G | p.S373* | Nonsense | 10/14 | - | 1 |
4-101982285-C-T | c.1115G>A | p.C372Y | Missense | 10/14 | - | 1 |
4-101982293-G-A | c.1107C>T | p.L369= | Synonymous | 10/14 | - | 1 |
4-101982294-A-G | c.1106T>C | p.L369P | Missense | 10/14 | - | 1 |
4-101982300-T-A | c.1100A>T | p.N367I | Missense | 10/14 | - | 2 |
4-101982299-AT-A | c.1100del | p.N367Mfs*11 | Frameshift | 10/14 | - | 1 |
4-101982303-A-G | c.1097T>C | p.V366A | Missense | 10/14 | - | 1 |
4-101982305-C-A | c.1095G>T | p.L365= | Synonymous | 10/14 | - | 3 |
4-101982305-C-G | c.1095G>C | p.L365= | Synonymous | 10/14 | - | 3 |
4-101982310-T-A | c.1090A>T | p.M364L | Missense | 10/14 | - | 1 |
4-101982310-T-G | c.1090A>C | p.M364L | Missense | 10/14 | - | 1 |
4-101982311-C-A | c.1089G>T | p.E363D | Missense | 10/14 | - | 1 |
4-101982313-C-G | c.1087G>C | p.E363Q | Missense | 10/14 | - | 7 |
4-101982316-T-C | c.1084A>G | p.T362A | Missense | 10/14 | - | 1 |
4-101984179-GT-G | c.1081+209del | - | IntronicDeletion | - | 9/13 | 1 |
4-101984272-G-T | c.1081+117C>A | - | IntronicSNV | - | 9/13 | 1 |
4-101984395-C-T | c.1075G>A | p.E359K | Missense | 9/14 | - | 1 |
4-101984403-A-C | c.1067T>G | p.F356C | Missense | 9/14 | - | 1 |
4-101984410-G-T | c.1060C>A | p.L354I | Missense | 9/14 | - | 1 |
4-101984411-G-A | c.1059C>T | p.S353= | Synonymous | 9/14 | - | 3 |
4-101984417-A-G | c.1053T>C | p.T351= | Synonymous | 9/14 | - | 1 |
4-101984418-G-C | c.1052C>G | p.T351S | Missense | 9/14 | - | 1 |
4-101984423-A-C | c.1047T>G | p.V349= | Synonymous | 9/14 | - | 1 |
4-101984423-A-G | c.1047T>C | p.V349= | Synonymous | 9/14 | - | 1 |
4-101984423-A-T | c.1047T>A | p.V349= | Synonymous | 9/14 | - | 1 |
4-101984427-T-A | c.1043A>T | p.D348V | Missense | 9/14 | - | 1 |
4-101984428-C-A | c.1042G>T | p.D348Y | Missense | 9/14 | - | 3 |
4-101984429-C-T | c.1041G>A | p.M347I | Missense | 9/14 | - | 1 |
4-101984430-A-G | c.1040T>C | p.M347T | Missense | 9/14 | - | 1 |
4-101984435-A-G | c.1035T>C | p.N345= | Synonymous | 9/14 | - | 2 |
4-101984440-G-A | c.1030C>T | p.P344S | Missense | 9/14 | - | 1 |
4-101984445-C-A | c.1025G>T | p.W342L | Missense | 9/14 | - | 2 |
4-101984452-G-A | c.1018C>T | p.P340S | Missense | 9/14 | - | 3 |
4-101984455-G-A | c.1015C>T | p.H339Y | Missense | 9/14 | - | 2 |
4-101984457-G-T | c.1013C>A | p.P338H | Missense | 9/14 | - | 1 |
4-101984460-G-A | c.1010C>T | p.S337F | Missense | 9/14 | - | 1 |
4-101984464-A-G | c.1006T>C | p.C336R | Missense | 9/14 | - | 2 |
4-101984470-A-G | c.1000T>C | p.F334L | Missense | 9/14 | - | 1 |
4-101984485-T-C | c.985A>G | p.M329V | Missense | 9/14 | - | 2 |
4-101984489-A-T | c.981T>A | p.N327K | Missense | 9/14 | - | 1 |
4-101984494-T-C | c.976A>G | p.N326D | Missense | 9/14 | - | 2 |
4-101984501-C-T | c.969G>A | p.K323= | Synonymous | 9/14 | - | 1 |
4-101984510-T-A | c.960A>T | p.A320= | Synonymous | 9/14 | - | 1 |
4-101984510-T-C | c.960A>G | p.A320= | Synonymous | 9/14 | - | 1 |
4-101984510-T-G | c.960A>C | p.A320= | Synonymous | 9/14 | - | 1 |
4-102001629-C-T | c.955+60G>A | - | IntronicSNV | - | 8/13 | 1 |
4-102001686-T-C | c.955+3A>G | - | IntronicSNV | - | 8/13 | 1 |
4-102001698-T-A | c.946A>T | p.N316Y | Missense | 8/14 | - | 1 |
4-102001711-G-A | c.933C>T | p.Y311= | Synonymous | 8/14 | - | 3 |
4-102001718-G-A | c.926C>T | p.P309L | Missense | 8/14 | - | 1 |
4-102001719-G-A | c.925C>T | p.P309S | Missense | 8/14 | - | 3 |
4-102001723-T-C | c.921A>G | p.S307= | Synonymous | 8/14 | - | 1 |
4-102001724-GA-G | c.919del | p.S307Qfs*6 | Frameshift | 8/14 | - | 2 |
4-102001731-T-A | c.913A>T | p.I305F | Missense | 8/14 | - | 2 |
4-102001745-G-A | c.899C>T | p.P300L | Missense | 8/14 | - | 1 |
4-102001751-C-A | c.893G>T | p.G298V | Missense | 8/14 | - | 1 |
4-102001751-C-T | c.893G>A | p.G298D | Missense | 8/14 | - | 2 |
4-102001756-T-A | c.888A>T | p.T296= | Synonymous | 8/14 | - | 1 |
4-102001756-T-C | c.888A>G | p.T296= | Synonymous | 8/14 | - | 1 |
4-102001756-T-G | c.888A>C | p.T296= | Synonymous | 8/14 | - | 1 |
4-102001760-T-C | c.884A>G | p.Q295R | Missense | 8/14 | - | 1 |
4-102001763-CT-AA | c.880_881delinsTT | p.S294F | Missense | 8/14 | - | 3 |
4-102001765-T-C | c.879A>G | p.K293= | Synonymous | 8/14 | - | 1 |
4-102001769-C-G | c.875G>C | p.R292T | Missense | 8/14 | - | 1 |
4-102001771-G-GT | c.872dup | p.Y291* | Nonsense | 8/14 | - | 1 |
4-102001778-C-A | c.866G>T | p.R289L | Missense | 8/14 | - | 1 |
4-102001781-T-C | c.863A>G | p.Y288C | Missense | 8/14 | - | 1 |
4-102002123-C-A | c.861-340G>T | - | IntronicSNV | - | 7/13 | 2 |
4-102002123-C-G | c.861-340G>C | - | IntronicSNV | - | 7/13 | 2 |
4-102002366-C-T | c.861-583G>A | - | IntronicSNV | - | 7/13 | 1 |
4-102004348-A-C | c.855T>G | p.D285E | Missense | 7/14 | - | 1 |
4-102004348-A-T | c.855T>A | p.D285E | Missense | 7/14 | - | 1 |
4-102004350-C-T | c.853G>A | p.D285N | Missense | 7/14 | - | 5 |
4-102004355-G-A | c.848C>T | p.A283V | Missense | 7/14 | - | 1 |
4-102004357-T-A | c.846A>T | p.E282D | Missense | 7/14 | - | 4 |
4-102004357-T-G | c.846A>C | p.E282D | Missense | 7/14 | - | 5 |
4-102004359-C-T | c.844G>A | p.E282K | Missense | 7/14 | - | 12 |
4-102004360-G-C | c.843C>G | p.H281Q | Missense | 7/14 | - | 5 |
4-102004360-G-T | c.843C>A | p.H281Q | Missense | 7/14 | - | 1 |
4-102004362-G-A | c.841C>T | p.H281Y | Missense | 7/14 | - | 2 |
4-102004363-G-C | c.840C>G | p.A280= | Synonymous | 7/14 | - | 1 |
4-102004365-C-T | c.838G>A | p.A280T | Missense | 7/14 | - | 2 |
4-102004367-C-T | c.836G>A | p.R279Q | Missense | 7/14 | - | 4 |
4-102004388-T-C | c.815A>G | p.N272S | Missense | 7/14 | - | 1 |
4-102004402-T-C | c.801A>G | p.E267= | Synonymous | 7/14 | - | 1 |
4-102004405-A-G | c.798T>C | p.C266= | Synonymous | 7/14 | - | 1 |
4-102004413-C-T | c.790G>A | p.A264T | Missense | 7/14 | - | 1 |
4-102004414-C-T | c.789G>A | p.P263= | Synonymous | 7/14 | - | 1 |
4-102004415-G-A | c.788C>T | p.P263L | Missense | 7/14 | - | 2 |
4-102004416-G-A | c.787C>T | p.P263S | Missense | 7/14 | - | 1 |
4-102004418-T-G | c.785A>C | p.Y262S | Missense | 7/14 | - | 1 |
4-102004614-A-G | c.783-194T>C | - | IntronicSNV | - | 6/13 | 1 |
4-102010411-CA-C | c.782+4521del | - | IntronicDeletion | - | 6/13 | 1 |
4-102011033-A-T | c.782+3900T>A | - | IntronicSNV | - | 6/13 | 1 |
4-102014563-GTT-G | c.782+368_782+369del | - | IntronicDeletion | - | 6/13 | 1 |
4-102014813-G-A | c.782+120C>T | - | IntronicSNV | - | 6/13 | 1 |
4-102014919-T-C | c.782+14A>G | - | IntronicSNV | - | 6/13 | 2 |
4-102014919-T-G | c.782+14A>C | - | IntronicSNV | - | 6/13 | 2 |
4-102014934-T-C | c.781A>G | p.S261G | Missense | 6/14 | - | 1 |
4-102014937-A-G | c.778T>C | p.Y260H | Missense | 6/14 | - | 1 |
4-102014938-G-C | c.777C>G | p.F259L | Missense | 6/14 | - | 1 |
4-102014938-G-T | c.777C>A | p.F259L | Missense | 6/14 | - | 1 |
4-102014940-A-G | c.775T>C | p.F259L | Missense | 6/14 | - | 1 |
4-102014949-CA-C | c.766del | p.C256Vfs*47 | Frameshift | 6/14 | - | 1 |
4-102014950-C-A | c.765G>T | p.G255= | Synonymous | 6/14 | - | 1 |
4-102014950-C-G | c.765G>C | p.G255= | Synonymous | 6/14 | - | 1 |
4-102014950-C-T | c.765G>A | p.G255= | Synonymous | 6/14 | - | 2 |
4-102014953-C-A | c.762G>T | p.R254S | Missense | 6/14 | - | 2 |
4-102014953-C-G | c.762G>C | p.R254S | Missense | 6/14 | - | 2 |
4-102014953-C-T | c.762G>A | p.R254= | Synonymous | 6/14 | - | 2 |
4-102014955-T-G | c.760A>C | p.R254= | Synonymous | 6/14 | - | 1 |
4-102014949-AC-A | c.765del | p.C256Vfs*47 | Frameshift | 6/14 | - | 1 |
4-102014954-C-T | c.761G>A | p.R254K | Missense | 6/14 | - | 1 |
4-102014955-T-C | c.760A>G | p.R254G | Missense | 6/14 | - | 6 |
4-102014957-A-T | c.758T>A | p.V253D | Missense | 6/14 | - | 1 |
4-102014969-G-A | c.746C>T | p.T249I | Missense | 6/14 | - | 1 |
4-102014971-G-A | c.744C>T | p.F248= | Synonymous | 6/14 | - | 2 |
4-102014971-G-C | c.744C>G | p.F248L | Missense | 6/14 | - | 1 |
4-102014971-G-T | c.744C>A | p.F248L | Missense | 6/14 | - | 1 |
4-102014973-A-G | c.742T>C | p.F248L | Missense | 6/14 | - | 1 |
4-102014981-T-C | c.734A>G | p.Q245R | Missense | 6/14 | - | 1 |
4-102014982-G-C | c.733C>G | p.Q245E | Missense | 6/14 | - | 1 |
4-102014983-AGT-CTC | c.730_732delinsGAG | p.T244E | Missense | 6/14 | - | 1 |
4-102014995-T-A | c.720A>T | p.G240= | Synonymous | 6/14 | - | 1 |
4-102014995-T-C | c.720A>G | p.G240= | Synonymous | 6/14 | - | 1 |
4-102014995-T-G | c.720A>C | p.G240= | Synonymous | 6/14 | - | 1 |
4-102015009-G-C | c.706C>G | p.L236V | Missense | 6/14 | - | 1 |
4-102015011-G-T | c.704C>A | p.P235H | Missense | 6/14 | - | 1 |
4-102015013-G-C | c.702C>G | p.D234E | Missense | 6/14 | - | 3 |
4-102015013-G-T | c.702C>A | p.D234E | Missense | 6/14 | - | 4 |
4-102015015-C-A | c.700G>T | p.D234Y | Missense | 6/14 | - | 1 |
4-102015017-G-A | c.698C>T | p.S233L | Missense | 6/14 | - | 1 |
4-102015017-GA-AT | c.697_698delinsAT | p.S233I | Missense | 6/14 | - | 1 |
4-102015024-G-T | c.691C>A | p.L231M | Missense | 6/14 | - | 1 |
4-102015025-G-A | c.690C>T | p.I230= | Synonymous | 6/14 | - | 2 |
4-102015025-G-T | c.690C>A | p.I230= | Synonymous | 6/14 | - | 1 |
4-102015027-T-C | c.688A>G | p.I230V | Missense | 6/14 | - | 1 |
4-102015031-A-G | c.684T>C | p.C228= | Synonymous | 6/14 | - | 1 |
4-102015041-C-G | c.674G>C | p.G225A | Missense | 6/14 | - | 3 |
4-102015045-A-T | c.670T>A | p.Y224N | Missense | 6/14 | - | 1 |
4-102015047-G-T | c.668C>A | p.A223E | Missense | 6/14 | - | 1 |
4-102015048-C-A | c.667G>T | p.A223S | Missense | 6/14 | - | 1 |
4-102015048-C-T | c.667G>A | p.A223T | Missense | 6/14 | - | 2 |
4-102015049-A-G | c.666T>C | p.P222= | Synonymous | 6/14 | - | 1 |
4-102015057-C-A | c.658G>T | p.E220* | Nonsense | 6/14 | - | 2 |
4-102015057-C-G | c.658G>C | p.E220Q | Missense | 6/14 | - | 1 |
4-102015057-C-T | c.658G>A | p.E220K | Missense | 6/14 | - | 1 |
4-102015062-AA-CG | c.652_653delinsCG | p.F218R | Missense | 6/14 | - | 1 |
4-102015062-AA-TG | c.652_653delinsCA | p.F218H | Missense | 6/14 | - | 1 |
4-102015063-A-AT | c.651dup | p.F218Ifs*12 | Frameshift | 6/14 | - | 1 |
4-102015064-AT-A | c.651del | p.F218Sfs*85 | Frameshift | 6/14 | - | 1 |
4-102015065-C-T | c.650G>A | p.R217Q | Missense | 6/14 | - | 3 |
4-102015066-G-A | c.649C>T | p.R217* | Nonsense | 6/14 | - | 6 |
4-102015067-G-A | c.648C>T | p.D216= | Synonymous | 6/14 | - | 1 |
4-102017688-GT-G | c.642+1835del | - | IntronicDeletion | - | 5/13 | 1 |
4-102019524-T-G | c.642A>C | p.K214N | Missense | 5/14 | - | 2 |
4-102019540-A-C | c.626T>G | p.L209* | Nonsense | 5/14 | - | 1 |
4-102019543-G-A | c.623C>T | p.T208I | Missense | 5/14 | - | 1 |
4-102019545-G-C | c.621C>G | p.N207K | Missense | 5/14 | - | 1 |
4-102019545-G-T | c.621C>A | p.N207K | Missense | 5/14 | - | 1 |
4-102019550-T-G | c.616A>C | p.I206L | Missense | 5/14 | - | 1 |
4-102019566-A-C | c.600T>G | p.G200= | Synonymous | 5/14 | - | 1 |
4-102019566-A-G | c.600T>C | p.G200= | Synonymous | 5/14 | - | 1 |
4-102019566-A-T | c.600T>A | p.G200= | Synonymous | 5/14 | - | 1 |
4-102019568-C-T | c.598G>A | p.G200S | Missense | 5/14 | - | 4 |
4-102019570-T-C | c.596A>G | p.H199R | Missense | 5/14 | - | 1 |
4-102019574-C-A | c.592G>T | p.V198L | Missense | 5/14 | - | 2 |
4-102019578-C-A | c.588G>T | p.L196= | Synonymous | 5/14 | - | 1 |
4-102019578-C-G | c.588G>C | p.L196= | Synonymous | 5/14 | - | 1 |
4-102019578-C-T | c.588G>A | p.L196= | Synonymous | 5/14 | - | 2 |
4-102019580-G-A | c.586C>T | p.L196= | Synonymous | 5/14 | - | 1 |
4-102019580-G-C | c.586C>G | p.L196V | Missense | 5/14 | - | 1 |
4-102019581-G-A | c.585C>T | p.F195= | Synonymous | 5/14 | - | 1 |
4-102019581-G-C | c.585C>G | p.F195L | Missense | 5/14 | - | 1 |
4-102019589-G-A | c.577C>T | p.Q193* | Nonsense | 5/14 | - | 1 |
4-102019593-C-A | c.573G>T | p.M191I | Missense | 5/14 | - | 1 |
4-102019593-C-G | c.573G>C | p.M191I | Missense | 5/14 | - | 1 |
4-102019593-C-T | c.573G>A | p.M191I | Missense | 5/14 | - | 1 |
4-102019596-C-A | c.570G>T | p.L190= | Synonymous | 5/14 | - | 4 |
4-102019596-C-G | c.570G>C | p.L190= | Synonymous | 5/14 | - | 4 |
4-102019596-C-T | c.570G>A | p.L190= | Synonymous | 5/14 | - | 5 |
4-102019598-G-A | c.568C>T | p.L190= | Synonymous | 5/14 | - | 4 |
4-102019605-C-A | c.561G>T | p.L187= | Synonymous | 5/14 | - | 1 |
4-102019605-C-G | c.561G>C | p.L187= | Synonymous | 5/14 | - | 1 |
4-102019608-G-A | c.558C>T | p.P186= | Synonymous | 5/14 | - | 1 |
4-102019609-G-A | c.557C>T | p.P186L | Missense | 5/14 | - | 1 |
4-102019610-G-A | c.556C>T | p.P186S | Missense | 5/14 | - | 2 |
4-102019611-A-C | c.555T>G | p.L185= | Synonymous | 5/14 | - | 2 |
4-102019611-A-G | c.555T>C | p.L185= | Synonymous | 5/14 | - | 1 |
4-102019611-A-T | c.555T>A | p.L185= | Synonymous | 5/14 | - | 1 |
4-102019615-C-A | c.551G>T | p.C184F | Missense | 5/14 | - | 1 |
4-102019620-A-T | c.546T>A | p.F182L | Missense | 5/14 | - | 1 |
4-102019632-A-G | c.534T>C | p.C178= | Synonymous | 5/14 | - | 1 |
4-102019633-C-T | c.533G>A | p.C178Y | Missense | 5/14 | - | 1 |
4-102019635-G-A | c.531C>T | p.A177= | Synonymous | 5/14 | - | 1 |
4-102019635-G-T | c.531C>A | p.A177= | Synonymous | 5/14 | - | 1 |
4-102019647-G-A | c.519C>T | p.R173= | Synonymous | 5/14 | - | 1 |
4-102019647-G-C | c.519C>G | p.R173= | Synonymous | 5/14 | - | 1 |
4-102019647-G-T | c.519C>A | p.R173= | Synonymous | 5/14 | - | 1 |
4-102019648-C-T | c.518G>A | p.R173H | Missense | 5/14 | - | 1 |
4-102019649-G-T | c.517C>A | p.R173S | Missense | 5/14 | - | 1 |
4-102019654-G-A | c.512C>T | p.S171L | Missense | 5/14 | - | 1 |
4-102019860-G-A | c.497-191C>T | - | IntronicSNV | - | 4/13 | 1 |
4-102020308-A-C | c.496+460T>G | - | IntronicSNV | - | 4/13 | 1 |
4-102020754-T-A | c.496+14A>T | - | IntronicSNV | - | 4/13 | 1 |
4-102020771-C-T | c.493G>A | p.E165K | Missense | 4/14 | - | 1 |
4-102020781-TG-CA | c.482_483inv | p.T161M | Missense | 4/14 | - | 1 |
4-102020786-A-T | c.478T>A | p.F160I | Missense | 4/14 | - | 1 |
4-102020793-T-TTTCATATTATCCTATATTTCTTTCTAA | c.470_471insTTAGAAAGAAATATAGGATAATATGAA | p.T157_E158ins* | Nonsense | 4/14 | - | 1 |
4-102020794-G-A | c.470C>T | p.T157I | Missense | 4/14 | - | 1 |
4-102020798-G-C | c.466C>G | p.L156V | Missense | 4/14 | - | 1 |
4-102020799-A-G | c.465T>C | p.H155= | Synonymous | 4/14 | - | 1 |
4-102020811-A-C | c.453T>G | p.H151Q | Missense | 4/14 | - | 1 |
4-102020811-A-T | c.453T>A | p.H151Q | Missense | 4/14 | - | 1 |
4-102020812-TG-GC | c.451_452delinsGC | p.H151A | Missense | 4/14 | - | 1 |
4-102020813-G-A | c.451C>T | p.H151Y | Missense | 4/14 | - | 7 |
4-102020815-T-A | c.449A>T | p.N150I | Missense | 4/14 | - | 3 |
4-102020819-C-A | c.445G>T | p.G149* | Nonsense | 4/14 | - | 1 |
4-102020821-C-T | c.443G>A | p.R148H | Missense | 4/14 | - | 2 |
4-102020822-G-A | c.442C>T | p.R148C | Missense | 4/14 | - | 7 |
4-102020828-A-C | c.436T>G | p.L146V | Missense | 4/14 | - | 1 |
4-102020832-CAG-GAT | c.430_432delinsATC | p.L144I | Missense | 4/14 | - | 1 |
4-102020844-G-A | c.420C>T | p.Y140= | Synonymous | 4/14 | - | 1 |
4-102020849-G-A | c.415C>T | p.L139F | Missense | 4/14 | - | 3 |
4-102020851-A-AT | c.412dup | p.I138Nfs*15 | Frameshift | 4/14 | - | 1 |
4-102020855-T-C | c.409A>G | p.K137E | Missense | 4/14 | - | 1 |
4-102020856-C-T | c.408G>A | p.L136= | Synonymous | 4/14 | - | 1 |
4-102020860-G-A | c.404C>T | p.A135V | Missense | 4/14 | - | 1 |
4-102020862-C-T | c.402G>A | p.W134* | Nonsense | 4/14 | - | 1 |
4-102020863-C-T | c.401G>A | p.W134* | Nonsense | 4/14 | - | 1 |
4-102020875-A-C | c.389T>G | p.V130G | Missense | 4/14 | - | 1 |
4-102020876-C-A | c.388G>T | p.V130L | Missense | 4/14 | - | 1 |
4-102020876-C-T | c.388G>A | p.V130M | Missense | 4/14 | - | 1 |
4-102020924-C-T | c.385-45G>A | - | IntronicSNV | - | 3/13 | 2 |
4-102022101-G-C | c.385-1222C>G | - | IntronicSNV | - | 3/13 | 3 |
4-102026962-T-TA | c.384+3148dup | - | IntronicInsertion | - | 3/13 | 1 |
4-102030115-A-G | c.380T>C | p.I127T | Missense | 3/14 | - | 1 |
4-102030120-G-A | c.375C>T | p.F125= | Synonymous | 3/14 | - | 1 |
4-102030130-C-T | c.365G>A | p.R122K | Missense | 3/14 | - | 1 |
4-102030138-A-G | c.357T>C | p.Y119= | Synonymous | 3/14 | - | 1 |
4-102030140-A-G | c.355T>C | p.Y119H | Missense | 3/14 | - | 1 |
4-102030144-C-T | c.351G>A | p.G117= | Synonymous | 3/14 | - | 1 |
4-102030145-C-A | c.350G>T | p.G117V | Missense | 3/14 | - | 1 |
4-102030146-C-A | c.349G>T | p.G117W | Missense | 3/14 | - | 1 |
4-102030147-T-G | c.348A>C | p.L116F | Missense | 3/14 | - | 1 |
4-102030154-A-G | c.341T>C | p.L114P | Missense | 3/14 | - | 1 |
4-102030160-C-T | c.335G>A | p.R112H | Missense | 3/14 | - | 3 |
4-102030161-G-A | c.334C>T | p.R112C | Missense | 3/14 | - | 3 |
4-102030161-G-C | c.334C>G | p.R112G | Missense | 3/14 | - | 1 |
4-102030165-G-T | c.330C>A | p.N110K | Missense | 3/14 | - | 1 |
4-102030168-G-A | c.327C>T | p.A109= | Synonymous | 3/14 | - | 1 |
4-102030172-G-A | c.323C>T | p.P108L | Missense | 3/14 | - | 5 |
4-102030173-G-A | c.322C>T | p.P108S | Missense | 3/14 | - | 1 |
4-102030175-GA-CC | c.319_320delinsGG | p.S107G | Missense | 3/14 | - | 1 |
4-102030178-C-T | c.317G>A | p.G106E | Missense | 3/14 | - | 1 |
4-102030182-C-A | c.313G>T | p.G105W | Missense | 3/14 | - | 2 |
4-102030183-G-A | c.312C>T | p.V104= | Synonymous | 3/14 | - | 4 |
4-102030183-G-C | c.312C>G | p.V104= | Synonymous | 3/14 | - | 3 |
4-102030183-G-T | c.312C>A | p.V104= | Synonymous | 3/14 | - | 3 |
4-102030187-T-C | c.308A>G | p.E103G | Missense | 3/14 | - | 1 |
4-102030195-C-T | c.300G>A | p.K100= | Synonymous | 3/14 | - | 3 |
4-102030195-GC-G | c.300del | p.K100Nfs*17 | Frameshift | 3/14 | - | 1 |
4-102030202-A-G | c.293T>C | p.L98S | Missense | 3/14 | - | 2 |
4-102030201-C-T | c.294G>A | p.L98= | Synonymous | 3/14 | - | 1 |
4-102030203-A-G | c.292T>C | p.L98= | Synonymous | 3/14 | - | 1 |
4-102030204-A-G | c.291T>C | p.D97= | Synonymous | 3/14 | - | 1 |
4-102030213-T-C | c.282A>G | p.Q94= | Synonymous | 3/14 | - | 1 |
4-102030217-C-G | c.278G>C | p.G93A | Missense | 3/14 | - | 1 |
4-102030217-C-T | c.278G>A | p.G93E | Missense | 3/14 | - | 2 |
4-102030218-C-A | c.277G>T | p.G93* | Nonsense | 3/14 | - | 1 |
4-102030220-T-C | c.275A>G | p.H92R | Missense | 3/14 | - | 8 |
4-102030221-G-T | c.274C>A | p.H92N | Missense | 3/14 | - | 1 |
4-102030222-A-C | c.273T>G | p.I91M | Missense | 3/14 | - | 1 |
4-102030235-A-C | c.260T>G | p.V87G | Missense | 3/14 | - | 1 |
4-102037719-C-T | c.260-7484G>A | - | IntronicSNV | - | 2/13 | 3 |
4-102037750-A-T | c.260-7515T>A | - | IntronicSNV | - | 2/13 | 2 |
4-102038786-C-T | c.260-8551G>A | - | IntronicSNV | - | 2/13 | 1 |
4-102043610-C-T | c.260-13375G>A | - | IntronicSNV | - | 2/13 | 1 |
4-102044841-C-A | c.260-14606G>T | - | IntronicSNV | - | 2/13 | 1 |
4-102048076-A-G | c.260-17841T>C | - | IntronicSNV | - | 2/13 | 7 |
4-102056663-C-G | c.260-26428G>C | - | IntronicSNV | - | 2/13 | 1 |
4-102058842-C-T | c.260-28607G>A | - | IntronicSNV | - | 2/13 | 1 |
4-102073834-A-G | c.259+43239T>C | - | IntronicSNV | - | 2/13 | 1 |
4-102075077-GA-G | c.259+41995del | - | IntronicDeletion | - | 2/13 | 1 |
4-102076148-AT-A | c.259+40924del | - | IntronicDeletion | - | 2/13 | 1 |
4-102079736-A-C | c.259+37337T>G | - | IntronicSNV | - | 2/13 | 1 |
4-102082056-G-A | c.259+35017C>T | - | IntronicSNV | - | 2/13 | 1 |
4-102083201-G-A | c.259+33872C>T | - | IntronicSNV | - | 2/13 | 1 |
4-102083201-G-C | c.259+33872C>G | - | IntronicSNV | - | 2/13 | 1 |
4-102084331-T-C | c.259+32742A>G | - | IntronicSNV | - | 2/13 | 2 |
4-102084615-A-G | c.259+32458T>C | - | IntronicSNV | - | 2/13 | 1 |
4-102086808-A-C | c.259+30265T>G | - | IntronicSNV | - | 2/13 | 1 |
4-102092341-C-T | c.259+24732G>A | - | IntronicSNV | - | 2/13 | 1 |
4-102092370-C-A | c.259+24703G>T | - | IntronicSNV | - | 2/13 | 1 |
4-102092507-C-A | c.259+24566G>T | - | IntronicSNV | - | 2/13 | 1 |
4-102092507-C-CA | c.259+24565dup | - | IntronicInsertion | - | 2/13 | 1 |
4-102092995-G-A | c.259+24078C>T | - | IntronicSNV | - | 2/13 | 1 |
4-102093727-T-C | c.259+23346A>G | - | IntronicSNV | - | 2/13 | 1 |
4-102097498-C-T | c.259+19575G>A | - | IntronicSNV | - | 2/13 | 1 |
4-102099473-C-A | c.259+17600G>T | - | IntronicSNV | - | 2/13 | 1 |
4-102099497-G-A | c.259+17576C>T | - | IntronicSNV | - | 2/13 | 1 |
4-102100034-C-T | c.259+17039G>A | - | IntronicSNV | - | 2/13 | 1 |
4-102104677-T-A | c.259+12396A>T | - | IntronicSNV | - | 2/13 | 1 |
4-102104678-C-A | c.259+12395G>T | - | IntronicSNV | - | 2/13 | 1 |
4-102108406-AT-A | c.259+8666del | - | IntronicDeletion | - | 2/13 | 1 |
4-102115186-C-T | c.259+1887G>A | - | IntronicSNV | - | 2/13 | 2 |
4-102116854-A-G | c.259+219T>C | - | IntronicSNV | - | 2/13 | 1 |
4-102116994-G-A | c.259+79C>T | - | IntronicSNV | - | 2/13 | 4 |
4-102117072-C-T | c.259+1G>A | - | IntronicSNV | - | 2/13 | 1 |
4-102117076-T-G | c.256A>C | p.T86P | Missense | 2/14 | - | 1 |
4-102117079-C-A | c.253G>T | p.V85F | Missense | 2/14 | - | 2 |
4-102117083-C-A | c.249G>T | p.A83= | Synonymous | 2/14 | - | 4 |
4-102117083-CGC-AAA | c.247_249delinsTTT | p.A83F | Missense | 2/14 | - | 1 |
4-102117083-C-T | c.249G>A | p.A83= | Synonymous | 2/14 | - | 7 |
4-102117084-G-A | c.248C>T | p.A83V | Missense | 2/14 | - | 1 |
4-102117090-A-T | c.242T>A | p.I81N | Missense | 2/14 | - | 2 |
4-102117094-C-T | c.238G>A | p.D80N | Missense | 2/14 | - | 1 |
4-102117097-G-C | c.235C>G | p.L79V | Missense | 2/14 | - | 1 |
4-102117099-A-G | c.233T>C | p.L78S | Missense | 2/14 | - | 1 |
4-102117101-A-G | c.231T>C | p.N77= | Synonymous | 2/14 | - | 1 |
4-102117101-A-AT | c.230dup | p.N77Kfs*6 | Frameshift | 2/14 | - | 1 |
4-102117101-AT-A | c.230del | p.N77Ifs*22 | Frameshift | 2/14 | - | 3 |
4-102117109-C-T | c.223G>A | p.E75K | Missense | 2/14 | - | 1 |
4-102117110-C-T | c.222G>A | p.Q74= | Synonymous | 2/14 | - | 1 |
4-102117111-T-G | c.221A>C | p.Q74P | Missense | 2/14 | - | 1 |
4-102117114-C-T | c.218G>A | p.R73Q | Missense | 2/14 | - | 3 |
4-102117115-G-A | c.217C>T | p.R73* | Nonsense | 2/14 | - | 2 |
4-102117118-G-A | c.214C>T | p.L72F | Missense | 2/14 | - | 3 |
4-102117120-AT-A | c.211del | p.I71Ffs*28 | Frameshift | 2/14 | - | 1 |
4-102117123-G-C | c.209C>G | p.S70* | Nonsense | 2/14 | - | 2 |
4-102117123-G-T | c.209C>A | p.S70* | Nonsense | 2/14 | - | 2 |
4-102117121-TTGA-T | c.208_210del | p.S70del | InFrameDeletion | 2/14 | - | 1 |
4-102117133-C-T | c.199G>A | p.E67K | Missense | 2/14 | - | 1 |
4-102117144-C-G | c.188G>C | p.R63T | Missense | 2/14 | - | 1 |
4-102117144-C-T | c.188G>A | p.R63K | Missense | 2/14 | - | 1 |
4-102117148-A-C | c.184T>G | p.L62V | Missense | 2/14 | - | 1 |
4-102117151-C-A | c.181G>T | p.A61S | Missense | 2/14 | - | 1 |
4-102117156-C-T | c.176G>A | p.S59N | Missense | 2/14 | - | 1 |
4-102117160-C-A | c.172G>T | p.E58* | Nonsense | 2/14 | - | 1 |
4-102117163-C-A | c.169G>T | p.E57* | Nonsense | 2/14 | - | 4 |
4-102117164-C-T | c.168G>A | p.L56= | Synonymous | 2/14 | - | 1 |
4-102117165-A-T | c.167T>A | p.L56Q | Missense | 2/14 | - | 2 |
4-102117166-G-T | c.166C>A | p.L56M | Missense | 2/14 | - | 1 |
4-102117171-C-T | c.161G>A | p.G54E | Missense | 2/14 | - | 1 |
4-102117173-C-A | c.159G>T | p.E53D | Missense | 2/14 | - | 1 |
4-102117180-A-C | c.152T>G | p.M51R | Missense | 2/14 | - | 1 |
4-102117180-A-G | c.152T>C | p.M51T | Missense | 2/14 | - | 1 |
4-102117181-T-A | c.151A>T | p.M51L | Missense | 2/14 | - | 1 |
4-102117184-G-A | c.148C>T | p.L50F | Missense | 2/14 | - | 2 |
4-102117187-G-T | c.145C>A | p.H49N | Missense | 2/14 | - | 1 |
4-102117188-C-T | c.144G>A | p.A48= | Synonymous | 2/14 | - | 1 |
4-102117189-G-A | c.143C>T | p.A48V | Missense | 2/14 | - | 5 |
4-102117190-C-A | c.142G>T | p.A48S | Missense | 2/14 | - | 1 |
4-102117190-C-T | c.142G>A | p.A48T | Missense | 2/14 | - | 1 |
4-102117191-C-T | c.141G>A | p.K47= | Synonymous | 2/14 | - | 1 |
4-102117194-T-C | c.138A>G | p.L46= | Synonymous | 2/14 | - | 1 |
4-102117196-A-G | c.136T>C | p.L46= | Synonymous | 2/14 | - | 1 |
4-102117197-G-C | c.135C>G | p.I45M | Missense | 2/14 | - | 1 |
4-102117199-T-C | c.133A>G | p.I45V | Missense | 2/14 | - | 1 |
4-102117206-A-G | c.126T>C | p.R42= | Synonymous | 2/14 | - | 1 |
4-102117207-C-T | c.125G>A | p.R42H | Missense | 2/14 | - | 1 |
4-102117208-G-A | c.124C>T | p.R42C | Missense | 2/14 | - | 4 |
4-102117210-G-A | c.122C>T | p.P41L | Missense | 2/14 | - | 2 |
4-102117211-G-A | c.121C>T | p.P41S | Missense | 2/14 | - | 1 |
4-102117211-G-T | c.121C>A | p.P41T | Missense | 2/14 | - | 1 |
4-102117212-T-C | c.120A>G | p.K40= | Synonymous | 2/14 | - | 1 |
4-102117231-A-G | c.101T>C | p.V34A | Missense | 2/14 | - | 4 |
4-102117232-C-T | c.100G>A | p.V34M | Missense | 2/14 | - | 1 |
4-102117235-C-A | c.97G>T | p.E33* | Nonsense | 2/14 | - | 2 |
4-102117236-T-C | c.96A>G | p.K32= | Synonymous | 2/14 | - | 1 |
4-102117240-GC-AG | c.91_92delinsCT | p.A31L | Missense | 2/14 | - | 1 |
4-102117242-T-A | c.90A>T | p.T30= | Synonymous | 2/14 | - | 1 |
4-102117242-T-C | c.90A>G | p.T30= | Synonymous | 2/14 | - | 1 |
4-102117242-T-G | c.90A>C | p.T30= | Synonymous | 2/14 | - | 1 |
4-102117249-C-T | c.83G>A | p.R28Q | Missense | 2/14 | - | 1 |
4-102117255-C-T | c.77G>A | p.S26N | Missense | 2/14 | - | 1 |
4-102117257-T-A | c.75A>T | p.P25= | Synonymous | 2/14 | - | 1 |
4-102117259-G-A | c.73C>T | p.P25S | Missense | 2/14 | - | 4 |
4-102117260-A-C | c.72T>G | p.P24= | Synonymous | 2/14 | - | 1 |
4-102117260-A-G | c.72T>C | p.P24= | Synonymous | 2/14 | - | 1 |
4-102117260-A-T | c.72T>A | p.P24= | Synonymous | 2/14 | - | 1 |
4-102117262-G-T | c.70C>A | p.P24T | Missense | 2/14 | - | 1 |
4-102117265-A-T | c.67T>A | p.F23I | Missense | 2/14 | - | 1 |
4-102117267-G-A | c.65C>T | p.P22L | Missense | 2/14 | - | 3 |
4-102117267-G-C | c.65C>G | p.P22R | Missense | 2/14 | - | 1 |
4-102117268-G-A | c.64C>T | p.P22S | Missense | 2/14 | - | 1 |
4-102117268-G-T | c.64C>A | p.P22T | Missense | 2/14 | - | 2 |
4-102117272-A-C | c.60T>G | p.A20= | Synonymous | 2/14 | - | 1 |
4-102117272-A-G | c.60T>C | p.A20= | Synonymous | 2/14 | - | 1 |
4-102117272-A-T | c.60T>A | p.A20= | Synonymous | 2/14 | - | 1 |
4-102117273-G-A | c.59C>T | p.A20V | Missense | 2/14 | - | 1 |
4-102117273-G-T | c.59C>A | p.A20D | Missense | 2/14 | - | 2 |
4-102117323-A-G | c.59-50T>C | - | IntronicSNV | - | 1/13 | 6 |
4-102119690-G-A | c.59-2417C>T | - | IntronicSNV | - | 1/13 | 1 |
4-102121760-T-C | c.59-4487A>G | - | IntronicSNV | - | 1/13 | 1 |
4-102135363-G-A | c.59-18090C>T | - | IntronicSNV | - | 1/13 | 1 |
4-102143174-A-G | c.59-25901T>C | - | IntronicSNV | - | 1/13 | 1 |
4-102143174-A-T | c.59-25901T>A | - | IntronicSNV | - | 1/13 | 1 |
4-102147645-G-A | c.59-30372C>T | - | IntronicSNV | - | 1/13 | 1 |
4-102147645-G-C | c.59-30372C>G | - | IntronicSNV | - | 1/13 | 1 |
4-102147645-G-T | c.59-30372C>A | - | IntronicSNV | - | 1/13 | 1 |
4-102148289-A-G | c.59-31016T>C | - | IntronicSNV | - | 1/13 | 1 |
4-102161828-T-G | c.59-44555A>C | - | IntronicSNV | - | 1/13 | 1 |
4-102162086-T-A | c.59-44813A>T | - | IntronicSNV | - | 1/13 | 1 |
4-102162086-T-C | c.59-44813A>G | - | IntronicSNV | - | 1/13 | 1 |
4-102162182-A-G | c.59-44909T>C | - | IntronicSNV | - | 1/13 | 1 |
4-102171591-T-A | c.59-54318A>T | - | IntronicSNV | - | 1/13 | 3 |
4-102171591-T-G | c.59-54318A>C | - | IntronicSNV | - | 1/13 | 3 |
4-102171606-A-G | c.59-54333T>C | - | IntronicSNV | - | 1/13 | 3 |
4-102179249-C-T | c.59-61976G>A | - | IntronicSNV | - | 1/13 | 1 |
4-102180807-C-T | c.59-63534G>A | - | IntronicSNV | - | 1/13 | 2 |
4-102182199-A-C | c.59-64926T>G | - | IntronicSNV | - | 1/13 | 1 |
4-102183594-T-C | c.59-66321A>G | - | IntronicSNV | - | 1/13 | 2 |
4-102184626-C-T | c.59-67353G>A | - | IntronicSNV | - | 1/13 | 2 |
4-102191502-C-G | c.59-74229G>C | - | IntronicSNV | - | 1/13 | 1 |
4-102191502-C-T | c.59-74229G>A | - | IntronicSNV | - | 1/13 | 1 |
4-102191587-G-A | c.59-74314C>T | - | IntronicSNV | - | 1/13 | 1 |
4-102191587-G-C | c.59-74314C>G | - | IntronicSNV | - | 1/13 | 1 |
4-102205827-C-A | c.58+62069G>T | - | IntronicSNV | - | 1/13 | 1 |
4-102205827-C-T | c.58+62069G>A | - | IntronicSNV | - | 1/13 | 1 |
4-102206923-A-T | c.58+60973T>A | - | IntronicSNV | - | 1/13 | 1 |
4-102208049-G-A | c.58+59847C>T | - | IntronicSNV | - | 1/13 | 1 |
4-102209360-T-G | c.58+58536A>C | - | IntronicSNV | - | 1/13 | 1 |
4-102222337-A-G | c.58+45559T>C | - | IntronicSNV | - | 1/13 | 1 |
4-102223084-T-A | c.58+44812A>T | - | IntronicSNV | - | 1/13 | 1 |
4-102223084-T-C | c.58+44812A>G | - | IntronicSNV | - | 1/13 | 1 |
4-102223386-C-A | c.58+44510G>T | - | IntronicSNV | - | 1/13 | 4 |
4-102224910-G-C | c.58+42986C>G | - | IntronicSNV | - | 1/13 | 2 |
4-102227041-A-G | c.58+40855T>C | - | IntronicSNV | - | 1/13 | 1 |
4-102228647-C-T | c.58+39249G>A | - | IntronicSNV | - | 1/13 | 1 |
4-102228696-T-G | c.58+39200A>C | - | IntronicSNV | - | 1/13 | 1 |
4-102229722-C-A | c.58+38174G>T | - | IntronicSNV | - | 1/13 | 1 |
4-102229778-C-T | c.58+38118G>A | - | IntronicSNV | - | 1/13 | 1 |
4-102231024-T-A | c.58+36872A>T | - | IntronicSNV | - | 1/13 | 1 |
4-102231024-T-G | c.58+36872A>C | - | IntronicSNV | - | 1/13 | 1 |
4-102231463-T-A | c.58+36433A>T | - | IntronicSNV | - | 1/13 | 1 |
4-102232629-T-C | c.58+35267A>G | - | IntronicSNV | - | 1/13 | 1 |
4-102232985-C-T | c.58+34911G>A | - | IntronicSNV | - | 1/13 | 1 |
4-102233041-CT-C | c.58+34854del | - | IntronicDeletion | - | 1/13 | 1 |
4-102233568-A-G | c.58+34328T>C | - | IntronicSNV | - | 1/13 | 1 |
4-102233848-A-C | c.58+34048T>G | - | IntronicSNV | - | 1/13 | 1 |
4-102235369-T-A | c.58+32527A>T | - | IntronicSNV | - | 1/13 | 2 |
4-102235726-CAAAAAAAA-C | c.58+32162_58+32169del | - | IntronicDeletion | - | 1/13 | 1 |
4-102236139-C-T | c.58+31757G>A | - | IntronicSNV | - | 1/13 | 1 |
4-102236140-A-G | c.58+31756T>C | - | IntronicSNV | - | 1/13 | 1 |
4-102236140-A-T | c.58+31756T>A | - | IntronicSNV | - | 1/13 | 1 |
4-102236741-G-T | c.58+31155C>A | - | IntronicSNV | - | 1/13 | 1 |
4-102236914-T-C | c.58+30982A>G | - | IntronicSNV | - | 1/13 | 1 |
4-102238583-C-T | c.58+29313G>A | - | IntronicSNV | - | 1/13 | 1 |
4-102240724-G-C | c.58+27172C>G | - | IntronicSNV | - | 1/13 | 1 |
4-102240747-G-A | c.58+27149C>T | - | IntronicSNV | - | 1/13 | 1 |
4-102241112-G-A | c.58+26784C>T | - | IntronicSNV | - | 1/13 | 1 |
4-102241631-ATG-A | c.58+26263_58+26264del | - | IntronicDeletion | - | 1/13 | 1 |
4-102241741-T-G | c.58+26155A>C | - | IntronicSNV | - | 1/13 | 1 |
4-102245372-A-G | c.58+22524T>C | - | IntronicSNV | - | 1/13 | 1 |
4-102245376-A-G | c.58+22520T>C | - | IntronicSNV | - | 1/13 | 1 |
4-102247191-A-G | c.58+20705T>C | - | IntronicSNV | - | 1/13 | 1 |
4-102248836-T-G | c.58+19060A>C | - | IntronicSNV | - | 1/13 | 1 |
4-102251501-T-C | c.58+16395A>G | - | IntronicSNV | - | 1/13 | 9 |
4-102251521-A-C | c.58+16375T>G | - | IntronicSNV | - | 1/13 | 1 |
4-102251596-C-G | c.58+16300G>C | - | IntronicSNV | - | 1/13 | 1 |
4-102251643-C-T | c.58+16253G>A | - | IntronicSNV | - | 1/13 | 1 |
4-102251644-G-A | c.58+16252C>T | - | IntronicSNV | - | 1/13 | 1 |
4-102251782-C-T | c.58+16114G>A | - | IntronicSNV | - | 1/13 | 4 |
4-102252696-C-T | c.58+15200G>A | - | IntronicSNV | - | 1/13 | 2 |
4-102254416-T-C | c.58+13480A>G | - | IntronicSNV | - | 1/13 | 1 |
4-102259365-T-C | c.58+8531A>G | - | IntronicSNV | - | 1/13 | 1 |
4-102264575-T-C | c.58+3321A>G | - | IntronicSNV | - | 1/13 | 1 |
4-102267435-C-T | c.58+461G>A | - | IntronicSNV | - | 1/13 | 1 |
4-102267444-A-T | c.58+452T>A | - | IntronicSNV | - | 1/13 | 1 |
4-102267453-G-A | c.58+443C>T | - | IntronicSNV | - | 1/13 | 1 |
4-102267453-G-T | c.58+443C>A | - | IntronicSNV | - | 1/13 | 1 |
4-102267465-A-T | c.58+431T>A | - | IntronicSNV | - | 1/13 | 1 |
4-102267475-C-A | c.58+421G>T | - | IntronicSNV | - | 1/13 | 1 |
4-102267528-T-C | c.58+368A>G | - | IntronicSNV | - | 1/13 | 1 |
4-102267530-T-C | c.58+366A>G | - | IntronicSNV | - | 1/13 | 1 |
4-102267821-A-C | c.58+75T>G | - | IntronicSNV | - | 1/13 | 4 |
4-102267821-A-G | c.58+75T>C | - | IntronicSNV | - | 1/13 | 2 |
4-102267822-A-G | c.58+74T>C | - | IntronicSNV | - | 1/13 | 5 |
4-102267895-C-A | c.58+1G>T | - | IntronicSNV | - | 1/13 | 1 |
4-102267895-C-G | c.58+1G>C | - | IntronicSNV | - | 1/13 | 1 |
4-102267897-T-C | c.57A>G | p.K19= | Synonymous | 1/14 | - | 1 |
4-102267904-A-C | c.50T>G | p.V17G | Missense | 1/14 | - | 1 |
4-102267906-CCT-ATG | c.46_48delinsCAT | p.R16H | Missense | 1/14 | - | 1 |
4-102267907-C-A | c.47G>T | p.R16M | Missense | 1/14 | - | 1 |
4-102267907-C-T | c.47G>A | p.R16K | Missense | 1/14 | - | 1 |
4-102267911-C-A | c.43G>T | p.D15Y | Missense | 1/14 | - | 1 |
4-102267911-C-T | c.43G>A | p.D15N | Missense | 1/14 | - | 1 |
4-102267913-G-A | c.41C>T | p.T14I | Missense | 1/14 | - | 1 |
4-102267915-C-A | c.39G>T | p.T13= | Synonymous | 1/14 | - | 1 |
4-102267915-C-G | c.39G>C | p.T13= | Synonymous | 1/14 | - | 1 |
4-102267915-C-T | c.39G>A | p.T13= | Synonymous | 1/14 | - | 1 |
4-102267919-G-A | c.35C>T | p.S12L | Missense | 1/14 | - | 1 |
4-102267921-C-A | c.33G>T | p.L11F | Missense | 1/14 | - | 1 |
4-102267921-C-G | c.33G>C | p.L11F | Missense | 1/14 | - | 1 |
4-102267925-TT-GC | c.28_29delinsGC | p.K10A | Missense | 1/14 | - | 1 |
4-102267926-T-C | c.28A>G | p.K10E | Missense | 1/14 | - | 4 |
4-102267929-G-T | c.25C>A | p.P9T | Missense | 1/14 | - | 1 |
4-102267936-T-C | c.18A>G | p.A6= | Synonymous | 1/14 | - | 1 |
4-102267942-G-A | c.12C>T | p.P4= | Synonymous | 1/14 | - | 2 |
4-102267942-G-C | c.12C>G | p.P4= | Synonymous | 1/14 | - | 2 |
4-102267942-G-T | c.12C>A | p.P4= | Synonymous | 1/14 | - | 2 |
4-102267943-G-A | c.11C>T | p.P4L | Missense | 1/14 | - | 3 |
4-102267947-C-T | c.7G>A | p.E3K | Missense | 1/14 | - | 4 |
4-102267949-G-A | c.5C>T | p.S2F | Missense | 1/14 | - | 1 |
4-102267949-G-C | c.5C>G | p.S2C | Missense | 1/14 | - | 1 |
4-102268034-A-ACAACGC | c.-82_-81insGCGTTG | - | 5-UTRInsertion | 1/14 | - | 2 |
4-102268034-A-ACCGCCG | c.-82_-81insCGGCGG | - | 5-UTRInsertion | 1/14 | - | 2 |