Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
14-23881950-C-T | c.*113G>A | - | 3-UTRSNV | 40/40 | - | 1 |
14-23882144-T-C | c.5791-64A>G | - | IntronicSNV | - | 39/39 | 2 |
14-23882186-T-C | c.5791-106A>G | - | IntronicSNV | - | 39/39 | 1 |
14-23882186-T-G | c.5791-106A>C | - | IntronicSNV | - | 39/39 | 1 |
14-23882972-G-A | c.5786C>T | p.Thr1929Met | Missense | 39/40 | - | 1 |
14-23882979-T-A | c.5779A>T | p.Ile1927Phe | Missense | 39/40 | - | 4 |
14-23882989-TC-T | c.5769del | p.Ser1924Alafs*9 | Frameshift | 39/40 | - | 1 |
14-23883001-C-A | c.5757G>T | p.Lys1919Asn | Missense | 39/40 | - | 1 |
14-23883001-C-G | c.5757G>C | p.Lys1919Asn | Missense | 39/40 | - | 1 |
14-23883004-G-T | c.5754C>A | p.Asn1918Lys | Missense | 39/40 | - | 7 |
14-23883004-G-C | c.5754C>G | p.Asn1918Lys | Missense | 39/40 | - | 7 |
14-23883018-C-T | c.5740G>A | p.Glu1914Lys | Missense | 39/40 | - | 7 |
14-23883023-A-T | c.5735T>A | p.Ile1912Asn | Missense | 39/40 | - | 1 |
14-23883032-C-G | c.5726G>C | p.Arg1909Pro | Missense | 39/40 | - | 2 |
14-23883054-C-G | c.5704G>C | p.Glu1902Gln | Missense | 39/40 | - | 2 |
14-23883055-G-T | c.5703C>A | p.His1901Gln | Missense | 39/40 | - | 1 |
14-23883055-G-C | c.5703C>G | p.His1901Gln | Missense | 39/40 | - | 1 |
14-23883056-T-A | c.5702A>T | p.His1901Leu | Missense | 39/40 | - | 7 |
14-23883089-T-C | c.5669A>G | p.Asn1890Ser | Missense | 39/40 | - | 1 |
14-23883102-C-T | c.5656G>A | p.Glu1886Lys | Missense | 39/40 | - | 2 |
14-23883184-C-T | c.5655+32G>A | - | IntronicSNV | - | 38/39 | 2 |
14-23883195-G-A | c.5655+21C>T | - | IntronicSNV | - | 38/39 | 1 |
14-23883216-C-T | c.5655G>A | p.Ala1885Ala | Synonymous | 38/40 | - | 1 |
14-23883224-C-T | c.5647G>A | p.Glu1883Lys | Missense | 38/40 | - | 6 |
14-23883247-A-G | c.5624T>C | p.Val1875Ala | Missense | 38/40 | - | 1 |
14-23883248-C-A | c.5623G>T | p.Val1875Phe | Missense | 38/40 | - | 1 |
14-23883283-C-T | c.5588G>A | p.Arg1863Gln | Missense | 38/40 | - | 1 |
14-23883298-C-A | c.5573G>T | p.Arg1858Met | Missense | 38/40 | - | 1 |
14-23883305-C-T | c.5566G>A | p.Glu1856Lys | Missense | 38/40 | - | 3 |
14-23883319-C-T | c.5560-8G>A | - | IntronicSNV | - | 37/39 | 1 |
14-23884226-C-T | c.5537G>A | p.Arg1846His | Missense | 37/40 | - | 1 |
14-23884227-G-A | c.5536C>T | p.Arg1846Cys | Missense | 37/40 | - | 1 |
14-23884229-C-T | c.5534G>A | p.Arg1845Gln | Missense | 37/40 | - | 1 |
14-23884230-G-A | c.5533C>T | p.Arg1845Trp | Missense | 37/40 | - | 10 |
14-23884236-T-A | c.5527A>T | p.Ser1843Cys | Missense | 37/40 | - | 1 |
14-23884256-G-C | c.5507C>G | p.Ser1836Trp | Missense | 37/40 | - | 1 |
14-23884256-G-A | c.5507C>T | p.Ser1836Leu | Missense | 37/40 | - | 1 |
14-23884261-TGC-ATG | c.5500_5502delinsCAT | p.Ala1834His | Missense | 37/40 | - | 1 |
14-23884269-G-A | c.5494C>T | p.Arg1832Cys | Missense | 37/40 | - | 1 |
14-23884269-G-C | c.5494C>G | p.Arg1832Gly | Missense | 37/40 | - | 1 |
14-23884292-T-C | c.5471A>G | p.Asn1824Ser | Missense | 37/40 | - | 1 |
14-23884340-C-G | c.5423G>C | p.Gly1808Ala | Missense | 37/40 | - | 2 |
14-23884341-C-T | c.5422G>A | p.Gly1808Ser | Missense | 37/40 | - | 1 |
14-23884353-C-T | c.5410G>A | p.Ala1804Thr | Missense | 37/40 | - | 1 |
14-23884362-C-T | c.5401G>A | p.Glu1801Lys | Missense | 37/40 | - | 6 |
14-23884383-G-T | c.5380C>A | p.Gln1794Lys | Missense | 37/40 | - | 2 |
14-23884383-G-C | c.5380C>G | p.Gln1794Glu | Missense | 37/40 | - | 3 |
14-23884384-GCAG-G | c.5378_5380del | p.Leu1793del | InFrameDeletion | 37/40 | - | 1 |
14-23884385-A-G | c.5378T>C | p.Leu1793Pro | Missense | 37/40 | - | 11 |
14-23884415-CTTC-C | c.5352_5354del | p.Lys1784del | InFrameDeletion | 37/40 | - | 3 |
14-23884419-T-C | c.5344A>G | p.Met1782Val | Missense | 37/40 | - | 2 |
14-23884421-C-T | c.5342G>A | p.Arg1781His | Missense | 37/40 | - | 2 |
14-23884422-G-A | c.5341C>T | p.Arg1781Cys | Missense | 37/40 | - | 1 |
14-23884427-A-G | c.5336T>C | p.Leu1779Pro | Missense | 37/40 | - | 2 |
14-23884434-C-T | c.5329G>A | p.Ala1777Thr | Missense | 37/40 | - | 1 |
14-23884437-T-C | c.5326A>G | p.Ser1776Gly | Missense | 37/40 | - | 3 |
14-23884458-G-T | c.5305C>A | p.Leu1769Met | Missense | 37/40 | - | 1 |
14-23884461-C-T | c.5302G>A | p.Glu1768Lys | Missense | 37/40 | - | 3 |
14-23884467-C-T | c.5296G>A | p.Ala1766Thr | Missense | 37/40 | - | 2 |
14-23884476-C-T | c.5287G>A | p.Ala1763Thr | Missense | 37/40 | - | 3 |
14-23884594-G-A | c.5279C>T | p.Thr1760Met | Missense | 36/40 | - | 1 |
14-23884604-T-C | c.5269A>G | p.Lys1757Glu | Missense | 36/40 | - | 2 |
14-23884616-C-T | c.5257G>A | p.Glu1753Lys | Missense | 36/40 | - | 1 |
14-23884643-C-A | c.5230G>T | p.Ala1744Ser | Missense | 36/40 | - | 1 |
14-23884694-TTCT-T | c.5186_5188del | p.Lys1729del | InFrameDeletion | 36/40 | - | 9 |
14-23884705-A-G | c.5168T>C | p.Leu1723Pro | Missense | 36/40 | - | 3 |
14-23884860-C-T | c.5135G>A | p.Arg1712Gln | Missense | 35/40 | - | 3 |
14-23884861-G-A | c.5134C>T | p.Arg1712Trp | Missense | 35/40 | - | 3 |
14-23884878-A-G | c.5117T>C | p.Leu1706Pro | Missense | 35/40 | - | 8 |
14-23884889-C-T | c.5106G>A | p.Ala1702Ala | Synonymous | 35/40 | - | 2 |
14-23884889-C-A | c.5106G>T | p.Ala1702Ala | Synonymous | 35/40 | - | 2 |
14-23884924-C-T | c.5071G>A | p.Val1691Met | Missense | 35/40 | - | 2 |
14-23884965-C-T | c.5030G>A | p.Arg1677His | Missense | 35/40 | - | 1 |
14-23884968-C-G | c.5027G>C | p.Arg1676Pro | Missense | 35/40 | - | 1 |
14-23884990-TCCT-T | c.5005_5007del | p.Glu1669del | InFrameDeletion | 35/40 | - | 2 |
14-23885008-C-G | c.4987G>C | p.Ala1663Pro | Missense | 35/40 | - | 5 |
14-23885010-C-T | c.4985G>A | p.Arg1662His | Missense | 35/40 | - | 1 |
14-23885010-C-G | c.4985G>C | p.Arg1662Pro | Missense | 35/40 | - | 3 |
14-23885229-A-G | c.4937T>C | p.Leu1646Pro | Missense | 34/40 | - | 2 |
14-23885260-C-G | c.4906G>C | p.Ala1636Pro | Missense | 34/40 | - | 3 |
14-23885266-G-T | c.4900C>A | p.Arg1634Ser | Missense | 34/40 | - | 3 |
14-23885287-T-A | c.4879A>T | p.Ile1627Phe | Missense | 34/40 | - | 1 |
14-23885301-A-G | c.4865T>C | p.Leu1622Pro | Missense | 34/40 | - | 1 |
14-23885311-C-T | c.4855G>A | p.Glu1619Lys | Missense | 34/40 | - | 3 |
14-23885322-CTTC-C | c.4850_4852del | p.Lys1617del | InFrameDeletion | 34/40 | - | 10 |
14-23885331-A-G | c.4835T>C | p.Leu1612Pro | Missense | 34/40 | - | 3 |
14-23885338-C-G | c.4828G>C | p.Glu1610Gln | Missense | 34/40 | - | 1 |
14-23885343-C-G | c.4823G>C | p.Arg1608Pro | Missense | 34/40 | - | 2 |
14-23885350-G-A | c.4816C>T | p.Arg1606Cys | Missense | 34/40 | - | 3 |
14-23885359-C-G | c.4807G>C | p.Ala1603Pro | Missense | 34/40 | - | 5 |
14-23885363-C-T | c.4803G>A | p.Leu1601Leu | Synonymous | 34/40 | - | 1 |
14-23885371-T-G | c.4795A>C | p.Thr1599Pro | Missense | 34/40 | - | 3 |
14-23885376-A-C | c.4790T>G | p.Leu1597Arg | Missense | 34/40 | - | 3 |
14-23885378-C-G | c.4788G>C | p.Ser1596Ser | Synonymous | 34/40 | - | 1 |
14-23885378-C-T | c.4788G>A | p.Ser1596Ser | Synonymous | 34/40 | - | 1 |
14-23885394-A-G | c.4772T>C | p.Leu1591Pro | Missense | 34/40 | - | 3 |
14-23885394-A-T | c.4772T>A | p.Leu1591Gln | Missense | 34/40 | - | 1 |
14-23885403-C-G | c.4763G>C | p.Arg1588Pro | Missense | 34/40 | - | 1 |
14-23885446-G-A | c.4720C>T | p.Arg1574Trp | Missense | 34/40 | - | 1 |
14-23885449-C-T | c.4717G>A | p.Glu1573Lys | Missense | 34/40 | - | 3 |
14-23885476-C-T | c.4690G>A | p.Glu1564Lys | Missense | 34/40 | - | 2 |
14-23885493-A-C | c.4673T>G | p.Ile1558Ser | Missense | 34/40 | - | 1 |
14-23885494-T-A | c.4672A>T | p.Ile1558Phe | Missense | 34/40 | - | 1 |
14-23885503-C-T | c.4663G>A | p.Glu1555Lys | Missense | 34/40 | - | 3 |
14-23885506-C-G | c.4660G>C | p.Glu1554Gln | Missense | 34/40 | - | 1 |
14-23885514-A-G | c.4652T>C | p.Leu1551Pro | Missense | 34/40 | - | 1 |
14-23885694-G-A | c.4645-173C>T | - | IntronicSNV | - | 33/39 | 1 |
14-23885717-G-A | c.4645-196C>T | - | IntronicSNV | - | 33/39 | 1 |
14-23885717-G-C | c.4645-196C>G | - | IntronicSNV | - | 33/39 | 1 |
14-23885887-G-A | c.4644+190C>T | - | IntronicSNV | - | 33/39 | 2 |
14-23885997-G-A | c.4644+80C>T | - | IntronicSNV | - | 33/39 | 2 |
14-23886099-T-G | c.4622A>C | p.Gln1541Pro | Missense | 33/40 | - | 3 |
14-23886166-T-A | c.4555A>T | p.Ser1519Cys | Missense | 33/40 | - | 2 |
14-23886183-G-C | c.4538C>G | p.Thr1513Ser | Missense | 33/40 | - | 2 |
14-23886184-T-A | c.4537A>T | p.Thr1513Ser | Missense | 33/40 | - | 2 |
14-23886200-CCTC-C | c.4522_4524del | p.Glu1508del | InFrameDeletion | 33/40 | 32/39 | 5 |
14-23886204-G-A | c.4520-3C>T | - | IntronicSNV | - | 32/39 | 1 |
14-23886264-C-T | c.4520-63G>A | - | IntronicSNV | - | 32/39 | 2 |
14-23886382-C-T | c.4499G>A | p.Arg1500Gln | Missense | 32/40 | - | 1 |
14-23886382-C-G | c.4499G>C | p.Arg1500Pro | Missense | 32/40 | - | 12 |
14-23886382-C-A | c.4499G>T | p.Arg1500Leu | Missense | 32/40 | - | 1 |
14-23886383-G-A | c.4498C>T | p.Arg1500Trp | Missense | 32/40 | - | 14 |
14-23886406-A-G | c.4475T>C | p.Leu1492Pro | Missense | 32/40 | - | 2 |
14-23886409-G-C | c.4472C>G | p.Ser1491Cys | Missense | 32/40 | - | 9 |
14-23886422-C-T | c.4459G>A | p.Ala1487Thr | Missense | 32/40 | - | 1 |
14-23886425-T-C | c.4456A>G | p.Asn1486Asp | Missense | 32/40 | - | 1 |
14-23886429-G-A | c.4452C>T | p.Leu1484Leu | Synonymous | 32/40 | - | 1 |
14-23886439-A-G | c.4442T>C | p.Leu1481Pro | Missense | 32/40 | - | 3 |
14-23886458-G-A | c.4423C>T | p.Arg1475Cys | Missense | 32/40 | - | 3 |
14-23886479-C-T | c.4402G>A | p.Glu1468Lys | Missense | 32/40 | - | 2 |
14-23886482-G-C | c.4399C>G | p.Leu1467Val | Missense | 32/40 | - | 2 |
14-23886504-C-G | c.4377G>C | p.Lys1459Asn | Missense | 32/40 | - | 6 |
14-23886509-G-C | c.4372C>G | p.Gln1458Glu | Missense | 32/40 | - | 1 |
14-23886518-C-T | c.4363G>A | p.Glu1455Lys | Missense | 32/40 | - | 1 |
14-23886518-C-A | c.4363G>T | p.Glu1455* | Nonsense | 32/40 | - | 2 |
14-23886670-C-T | c.4353+42G>A | - | IntronicSNV | - | 31/39 | 1 |
14-23886702-C-T | c.4353+10G>A | - | IntronicSNV | - | 31/39 | 1 |
14-23886717-C-T | c.4348G>A | p.Asp1450Asn | Missense | 31/40 | - | 3 |
14-23886738-C-T | c.4327G>A | p.Asp1443Asn | Missense | 31/40 | - | 1 |
14-23886744-C-CGGCGGG | c.4320_4321insCCCGCC | p.Ala1440_Ala1441insProAla | InFrameInsertion | 31/40 | - | 2 |
14-23886750-C-G | c.4315G>C | p.Ala1439Pro | Missense | 31/40 | - | 5 |
14-23886755-AGCA-A | c.4317_4319del | p.Ala1441del | InFrameDeletion | 31/40 | - | 1 |
14-23886756-C-G | c.4309G>C | p.Ala1437Pro | Missense | 31/40 | - | 2 |
14-23886761-G-C | c.4304C>G | p.Ser1435Cys | Missense | 31/40 | - | 1 |
14-23886762-A-G | c.4303T>C | p.Ser1435Pro | Missense | 31/40 | - | 3 |
14-23886764-C-G | c.4301G>C | p.Arg1434Pro | Missense | 31/40 | - | 2 |
14-23886765-G-A | c.4300C>T | p.Arg1434Cys | Missense | 31/40 | - | 2 |
14-23886782-A-G | c.4283T>C | p.Leu1428Ser | Missense | 31/40 | - | 1 |
14-23886789-C-T | c.4276G>A | p.Glu1426Lys | Missense | 31/40 | - | 7 |
14-23886806-C-T | c.4259G>A | p.Arg1420Gln | Missense | 31/40 | - | 1 |
14-23886807-G-A | c.4258C>T | p.Arg1420Trp | Missense | 31/40 | - | 6 |
14-23886825-G-T | c.4240C>A | p.Leu1414Met | Missense | 31/40 | - | 1 |
14-23886826-C-G | c.4239G>C | p.Ser1413Ser | Synonymous | 31/40 | - | 1 |
14-23886826-C-T | c.4239G>A | p.Ser1413Ser | Synonymous | 31/40 | - | 1 |
14-23887134-G-T | c.4170-239C>A | - | IntronicSNV | - | 30/39 | 2 |
14-23887219-T-G | c.4169+200A>C | - | IntronicSNV | - | 30/39 | 2 |
14-23887219-T-A | c.4169+200A>T | - | IntronicSNV | - | 30/39 | 2 |
14-23887429-C-T | c.4159G>A | p.Glu1387Lys | Missense | 30/40 | - | 1 |
14-23887443-C-T | c.4145G>A | p.Arg1382Gln | Missense | 30/40 | - | 2 |
14-23887444-G-A | c.4144C>T | p.Arg1382Trp | Missense | 30/40 | - | 3 |
14-23887452-GC-CG | c.4135_4136delinsCG | p.Ala1379Arg | Missense | 30/40 | - | 1 |
14-23887453-C-T | c.4135G>A | p.Ala1379Thr | Missense | 30/40 | - | 3 |
14-23887458-G-A | c.4130C>T | p.Thr1377Met | Missense | 30/40 | - | 13 |
14-23887463-A-T | c.4125T>A | p.Tyr1375* | Nonsense | 30/40 | - | 1 |
14-23887510-C-T | c.4078G>A | p.Val1360Ile | Missense | 30/40 | - | 2 |
14-23887511-G-A | c.4077C>T | p.Arg1359Arg | Synonymous | 30/40 | - | 2 |
14-23887512-C-T | c.4076G>A | p.Arg1359His | Missense | 30/40 | - | 1 |
14-23887513-G-A | c.4075C>T | p.Arg1359Cys | Missense | 30/40 | - | 3 |
14-23887522-C-T | c.4066G>A | p.Glu1356Lys | Missense | 30/40 | - | 9 |
14-23887526-CTT-GAC | c.4060_4062delinsGTC | p.Lys1354Val | Missense | 30/40 | - | 1 |
14-23887548-T-C | c.4040A>G | p.Tyr1347Cys | Missense | 30/40 | - | 2 |
14-23887552-G-A | c.4036C>T | p.Gln1346* | Nonsense | 30/40 | - | 1 |
14-23887557-C-T | c.4031G>A | p.Arg1344Gln | Missense | 30/40 | - | 3 |
14-23887558-G-A | c.4030C>T | p.Arg1344Trp | Missense | 30/40 | - | 1 |
14-23887607-G-T | c.3981C>A | p.Asn1327Lys | Missense | 30/40 | - | 7 |
14-23887615-C-T | c.3973G>A | p.Ala1325Thr | Missense | 30/40 | - | 1 |
14-23887645-T-C | c.3973-30A>G | - | IntronicSNV | - | 29/39 | 1 |
14-23888183-C-G | c.3972+203G>C | - | IntronicSNV | - | 29/39 | 2 |
14-23888183-C-T | c.3972+203G>A | - | IntronicSNV | - | 29/39 | 2 |
14-23888492-C-T | c.3866G>A | p.Arg1289Gln | Missense | 29/40 | - | 1 |
14-23888493-G-A | c.3865C>T | p.Arg1289Trp | Missense | 29/40 | - | 1 |
14-23888494-G-C | c.3864C>G | p.Ser1288Ser | Synonymous | 29/40 | - | 1 |
14-23888502-C-T | c.3856G>A | p.Glu1286Lys | Missense | 29/40 | - | 2 |
14-23888665-A-T | c.3853+27T>A | - | IntronicSNV | - | 28/39 | 2 |
14-23888685-G-A | c.3853+7C>T | - | IntronicSNV | - | 28/39 | 1 |
14-23888727-A-G | c.3818T>C | p.Leu1273Pro | Missense | 28/40 | - | 1 |
14-23888742-C-T | c.3803G>A | p.Arg1268His | Missense | 28/40 | - | 1 |
14-23888744-C-G | c.3801G>C | p.Gln1267His | Missense | 28/40 | - | 1 |
14-23888744-C-A | c.3801G>T | p.Gln1267His | Missense | 28/40 | - | 1 |
14-23889128-C-G | c.3652G>C | p.Glu1218Gln | Missense | 27/40 | - | 1 |
14-23889159-G-C | c.3621C>G | p.Ile1207Met | Missense | 27/40 | - | 1 |
14-23889167-C-T | c.3613G>A | p.Glu1205Lys | Missense | 27/40 | - | 2 |
14-23889202-C-T | c.3578G>A | p.Arg1193His | Missense | 27/40 | - | 2 |
14-23889203-G-T | c.3577C>A | p.Arg1193Ser | Missense | 27/40 | - | 4 |
14-23889245-C-T | c.3535G>A | p.Glu1179Lys | Missense | 27/40 | - | 1 |
14-23889325-T-A | c.3455A>T | p.Glu1152Val | Missense | 27/40 | - | 1 |
14-23889335-G-A | c.3445C>T | p.Arg1149Trp | Missense | 27/40 | - | 1 |
14-23889376-A-C | c.3404T>G | p.Leu1135Arg | Missense | 27/40 | - | 1 |
14-23889392-C-T | c.3388G>A | p.Ala1130Thr | Missense | 27/40 | - | 1 |
14-23889398-C-T | c.3382G>A | p.Ala1128Thr | Missense | 27/40 | - | 2 |
14-23889404-G-A | c.3376C>T | p.Arg1126Cys | Missense | 27/40 | - | 1 |
14-23889413-C-G | c.3367G>C | p.Glu1123Gln | Missense | 27/40 | - | 2 |
14-23889413-C-T | c.3367G>A | p.Glu1123Lys | Missense | 27/40 | - | 1 |
14-23889434-C-T | c.3346G>A | p.Glu1116Lys | Missense | 27/40 | - | 1 |
14-23889439-C-T | c.3341G>A | p.Arg1114His | Missense | 27/40 | - | 1 |
14-23889447-G-GG | c.3337-3dup | - | IntronicInsertion | - | 26/39 | 1 |
14-23890217-C-A | c.3286G>T | p.Asp1096Tyr | Missense | 26/40 | - | 3 |
14-23890231-T-C | c.3272A>G | p.Asn1091Ser | Missense | 26/40 | - | 1 |
14-23891398-C-T | c.3236G>A | p.Arg1079Gln | Missense | 25/40 | - | 2 |
14-23891399-G-A | c.3235C>T | p.Arg1079Trp | Missense | 25/40 | - | 4 |
14-23891465-C-T | c.3169G>A | p.Gly1057Ser | Missense | 25/40 | - | 2 |
14-23891466-C-G | c.3168G>C | p.Glu1056Asp | Missense | 25/40 | - | 1 |
14-23891476-C-T | c.3158G>A | p.Arg1053Gln | Missense | 25/40 | - | 3 |
14-23891482-G-A | c.3152C>T | p.Ala1051Val | Missense | 25/40 | - | 1 |
14-23891496-C-A | c.3138G>T | p.Met1046Ile | Missense | 25/40 | - | 1 |
14-23891496-C-T | c.3138G>A | p.Met1046Ile | Missense | 25/40 | - | 1 |
14-23891496-C-G | c.3138G>C | p.Met1046Ile | Missense | 25/40 | - | 1 |
14-23891500-C-T | c.3134G>A | p.Arg1045His | Missense | 25/40 | - | 2 |
14-23891501-G-A | c.3133C>T | p.Arg1045Cys | Missense | 25/40 | - | 8 |
14-23891518-T-C | c.3116A>G | p.Glu1039Gly | Missense | 25/40 | - | 1 |
14-23891521-A-G | c.3113T>C | p.Leu1038Pro | Missense | 25/40 | - | 3 |
14-23892799-G-T | c.3056C>A | p.Thr1019Asn | Missense | 24/40 | - | 4 |
14-23892837-GAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCT-G | c.2960_3018del | p.Glu987Alafs*3 | Multi:SpliceDonorDeletion,SpliceAcceptorDeletion | 24/40 | - | 1 |
14-23892883-T-C | c.2972A>G | p.Lys991Arg | Missense | 24/40 | - | 1 |
14-23892888-A-G | c.2967T>C | p.Ile989Ile | Synonymous | 24/40 | - | 8 |
14-23892910-A-G | c.2945T>C | p.Met982Thr | Missense | 24/40 | - | 5 |
14-23892950-C-T | c.2923-18G>A | - | IntronicSNV | - | 23/39 | 1 |
14-23893129-G-A | c.2909C>T | p.Ala970Val | Missense | 23/40 | - | 1 |
14-23893148-C-G | c.2890G>C | p.Val964Leu | Missense | 23/40 | - | 3 |
14-23893153-G-T | c.2885C>A | p.Ala962Asp | Missense | 23/40 | - | 1 |
14-23893162-A-C | c.2876T>G | p.Leu959Arg | Missense | 23/40 | - | 1 |
14-23893166-C-T | c.2872G>A | p.Glu958Lys | Missense | 23/40 | - | 1 |
14-23893168-A-C | c.2870T>G | p.Leu957Arg | Missense | 23/40 | - | 1 |
14-23893172-C-T | c.2866G>A | p.Asp956Asn | Missense | 23/40 | - | 1 |
14-23893175-C-T | c.2863G>A | p.Asp955Asn | Missense | 23/40 | - | 3 |
14-23893176-G-T | c.2862C>A | p.Ile954Ile | Synonymous | 23/40 | - | 1 |
14-23893181-C-G | c.2857G>C | p.Asp953His | Missense | 23/40 | - | 1 |
14-23893193-C-T | c.2845G>A | p.Glu949Lys | Missense | 23/40 | - | 2 |
14-23893217-G-A | c.2821C>T | p.Arg941Cys | Missense | 23/40 | - | 1 |
14-23893234-T-A | c.2804A>T | p.Glu935Val | Missense | 23/40 | - | 3 |
14-23893235-C-T | c.2803G>A | p.Glu935Lys | Missense | 23/40 | - | 4 |
14-23893237-G-A | c.2801C>T | p.Ala934Val | Missense | 23/40 | - | 1 |
14-23893243-A-T | c.2795T>A | p.Met932Lys | Missense | 23/40 | - | 2 |
14-23893246-T-G | c.2792A>C | p.Glu931Ala | Missense | 23/40 | - | 2 |
14-23893247-C-T | c.2791G>A | p.Glu931Lys | Missense | 23/40 | - | 1 |
14-23893250-C-G | c.2788G>C | p.Glu930Gln | Missense | 23/40 | - | 1 |
14-23893250-C-T | c.2788G>A | p.Glu930Lys | Missense | 23/40 | - | 3 |
14-23893251-CCTC-C | c.2791_2793del | p.Glu931del | InFrameDeletion | 23/40 | - | 1 |
14-23893253-C-T | c.2785G>A | p.Glu929Lys | Missense | 23/40 | - | 2 |
14-23893255-T-A | c.2783A>T | p.Asp928Val | Missense | 23/40 | - | 3 |
14-23893256-C-T | c.2782G>A | p.Asp928Asn | Missense | 23/40 | - | 2 |
14-23893258-CTCC-C | c.2781_2783del | p.Glu927del | InFrameDeletion | 23/40 | - | 2 |
14-23893259-C-T | c.2779G>A | p.Glu927Lys | Missense | 23/40 | - | 5 |
14-23893268-C-T | c.2770G>A | p.Glu924Lys | Missense | 23/40 | - | 9 |
14-23893273-A-T | c.2765T>A | p.Met922Lys | Missense | 23/40 | - | 2 |
14-23893277-C-T | c.2761G>A | p.Glu921Lys | Missense | 23/40 | - | 2 |
14-23893279-T-A | c.2759A>T | p.Lys920Met | Missense | 23/40 | - | 1 |
14-23893282-A-C | c.2756T>G | p.Val919Gly | Missense | 23/40 | - | 1 |
14-23893294-A-G | c.2744T>C | p.Leu915Pro | Missense | 23/40 | - | 2 |
14-23893296-C-G | c.2742G>C | p.Gln914His | Missense | 23/40 | - | 1 |
14-23893296-C-A | c.2742G>T | p.Gln914His | Missense | 23/40 | - | 1 |
14-23893302-C-A | c.2736G>T | p.Lys912Asn | Missense | 23/40 | - | 1 |
14-23893304-T-G | c.2734A>C | p.Lys912Gln | Missense | 23/40 | - | 1 |
14-23893311-G-C | c.2727C>G | p.Ile909Met | Missense | 23/40 | - | 1 |
14-23893313-T-C | c.2725A>G | p.Ile909Val | Missense | 23/40 | - | 1 |
14-23893316-G-C | c.2722C>G | p.Leu908Val | Missense | 23/40 | - | 11 |
14-23893321-T-C | c.2717A>G | p.Asp906Gly | Missense | 23/40 | - | 6 |
14-23893327-C-T | c.2711G>A | p.Arg904His | Missense | 23/40 | - | 1 |
14-23893328-G-A | c.2710C>T | p.Arg904Cys | Missense | 23/40 | - | 3 |
14-23893330-T-C | c.2708A>G | p.Glu903Gly | Missense | 23/40 | - | 2 |
14-23893331-C-G | c.2707G>C | p.Glu903Gln | Missense | 23/40 | - | 2 |
14-23893336-G-C | c.2702C>G | p.Ala901Gly | Missense | 23/40 | - | 2 |
14-23893337-C-G | c.2701G>C | p.Ala901Pro | Missense | 23/40 | - | 1 |
14-23893346-G-C | c.2692C>G | p.Leu898Val | Missense | 23/40 | - | 1 |
14-23893352-C-T | c.2686G>A | p.Asp896Asn | Missense | 23/40 | - | 1 |
14-23893353-T-G | c.2685A>C | p.Gln895His | Missense | 23/40 | - | 1 |
14-23893357-T-C | c.2681A>G | p.Glu894Gly | Missense | 23/40 | - | 3 |
14-23893979-G-A | c.2678C>T | p.Ala893Val | Missense | 22/40 | - | 4 |
14-23893983-G-T | c.2674C>A | p.Gln892Lys | Missense | 22/40 | - | 1 |
14-23894003-T-G | c.2654A>C | p.Asn885Thr | Missense | 22/40 | - | 2 |
14-23894013-G-C | c.2644C>G | p.Gln882Glu | Missense | 22/40 | - | 1 |
14-23894024-A-C | c.2633T>G | p.Val878Gly | Missense | 22/40 | - | 1 |
14-23894024-A-G | c.2633T>C | p.Val878Ala | Missense | 22/40 | - | 2 |
14-23894026-C-A | c.2631G>T | p.Met877Ile | Missense | 22/40 | - | 5 |
14-23894027-A-T | c.2630T>A | p.Met877Lys | Missense | 22/40 | - | 1 |
14-23894037-C-G | c.2620G>C | p.Glu874Gln | Missense | 22/40 | - | 1 |
14-23894048-C-T | c.2609G>A | p.Arg870His | Missense | 22/40 | - | 11 |
14-23894049-G-A | c.2608C>T | p.Arg870Cys | Missense | 22/40 | - | 5 |
14-23894051-C-T | c.2606G>A | p.Arg869His | Missense | 22/40 | - | 4 |
14-23894052-G-C | c.2605C>G | p.Arg869Gly | Missense | 22/40 | - | 1 |
14-23894061-A-G | c.2596T>C | p.Ser866Pro | Missense | 22/40 | - | 4 |
14-23894072-G-A | c.2585C>T | p.Ala862Val | Missense | 22/40 | - | 1 |
14-23894084-C-T | c.2573G>A | p.Arg858His | Missense | 22/40 | - | 2 |
14-23894085-G-A | c.2572C>T | p.Arg858Cys | Missense | 22/40 | - | 4 |
14-23894102-A-G | c.2555T>C | p.Met852Thr | Missense | 22/40 | - | 1 |
14-23894108-GGCCATCTCC-G | c.2541_2549del | p.Lys847_Ala850delinsAsn | MultiAAMissense | 22/40 | - | 1 |
14-23894108-G-T | c.2549C>A | p.Ala850Asp | Missense | 22/40 | - | 1 |
14-23894111-A-G | c.2546T>C | p.Met849Thr | Missense | 22/40 | - | 1 |
14-23894114-T-C | c.2543A>G | p.Glu848Gly | Missense | 22/40 | - | 8 |
14-23894118-T-C | c.2539A>G | p.Lys847Glu | Missense | 22/40 | - | 1 |
14-23894118-TTCT-T | c.2539_2541del | p.Lys847del | InFrameDeletion | 22/40 | - | 5 |
14-23894121-C-T | c.2536G>A | p.Glu846Lys | Missense | 22/40 | - | 2 |
14-23894130-C-A | c.2527G>T | p.Ala843Ser | Missense | 22/40 | - | 1 |
14-23894132-C-T | c.2525G>A | p.Ser842Asn | Missense | 22/40 | - | 2 |
14-23894139-G-T | c.2518C>A | p.Leu840Met | Missense | 22/40 | - | 1 |
14-23894144-G-A | c.2513C>T | p.Pro838Leu | Missense | 22/40 | - | 2 |
14-23894150-A-G | c.2507T>C | p.Ile836Thr | Missense | 22/40 | - | 1 |
14-23894155-G-T | c.2502C>A | p.Phe834Leu | Missense | 22/40 | - | 2 |
14-23894155-G-C | c.2502C>G | p.Phe834Leu | Missense | 22/40 | - | 2 |
14-23894157-A-G | c.2500T>C | p.Phe834Leu | Missense | 22/40 | - | 2 |
14-23894160-A-G | c.2497T>C | p.Tyr833His | Missense | 22/40 | - | 1 |
14-23894173-G-A | c.2484C>T | p.Pro828Pro | Synonymous | 22/40 | - | 1 |
14-23894174-G-A | c.2483C>T | p.Pro828Leu | Missense | 22/40 | - | 1 |
14-23894193-T-G | c.2464A>C | p.Met822Leu | Missense | 22/40 | - | 2 |
14-23894193-T-C | c.2464A>G | p.Met822Val | Missense | 22/40 | - | 1 |
14-23894193-T-A | c.2464A>T | p.Met822Leu | Missense | 22/40 | - | 2 |
14-23894201-C-T | c.2456G>A | p.Arg819Gln | Missense | 22/40 | - | 1 |
14-23894211-A-C | c.2446T>G | p.Trp816Gly | Missense | 22/40 | - | 1 |
14-23894225-A-G | c.2432T>C | p.Leu811Pro | Missense | 22/40 | - | 2 |
14-23894494-C-T | c.2420G>A | p.Arg807His | Missense | 21/40 | - | 1 |
14-23894525-C-G | c.2389G>C | p.Ala797Pro | Missense | 21/40 | - | 1 |
14-23894525-C-T | c.2389G>A | p.Ala797Thr | Missense | 21/40 | - | 14 |
14-23894528-G-A | c.2386C>T | p.Leu796Phe | Missense | 21/40 | - | 1 |
14-23894541-C-CC | c.2373dup | p.Ser792Valfs*17 | Frameshift | 21/40 | - | 1 |
14-23894554-C-G | c.2360G>C | p.Arg787Pro | Missense | 21/40 | - | 1 |
14-23894554-C-T | c.2360G>A | p.Arg787His | Missense | 21/40 | - | 9 |
14-23894555-G-A | c.2359C>T | p.Arg787Cys | Missense | 21/40 | - | 2 |
14-23894556-C-A | c.2358G>T | p.Thr786Thr | Synonymous | 21/40 | - | 1 |
14-23894556-C-T | c.2358G>A | p.Thr786Thr | Synonymous | 21/40 | - | 1 |
14-23894566-C-G | c.2348G>C | p.Arg783Pro | Missense | 21/40 | - | 3 |
14-23894566-C-T | c.2348G>A | p.Arg783His | Missense | 21/40 | - | 4 |
14-23894568-G-C | c.2346C>G | p.Ser782Arg | Missense | 21/40 | - | 3 |
14-23894568-G-T | c.2346C>A | p.Ser782Arg | Missense | 21/40 | - | 3 |
14-23894570-T-G | c.2344A>C | p.Ser782Arg | Missense | 21/40 | - | 3 |
14-23894569-C-T | c.2345G>A | p.Ser782Asn | Missense | 21/40 | - | 1 |
14-23894569-CT-GA | c.2344_2345delinsTC | p.Ser782Ser | Missense | 21/40 | - | 1 |
14-23894572-A-G | c.2342T>C | p.Leu781Pro | Missense | 21/40 | - | 1 |
14-23894580-G-C | c.2334C>G | p.Asp778Glu | Missense | 21/40 | - | 2 |
14-23894581-T-C | c.2333A>G | p.Asp778Gly | Missense | 21/40 | - | 2 |
14-23894581-T-A | c.2333A>T | p.Asp778Val | Missense | 21/40 | - | 1 |
14-23894582-C-T | c.2332G>A | p.Asp778Asn | Missense | 21/40 | - | 1 |
14-23894584-C-G | c.2330G>C | p.Arg777Thr | Missense | 21/40 | - | 1 |
14-23894612-C-T | c.2302G>A | p.Gly768Arg | Missense | 21/40 | - | 7 |
14-23894612-C-G | c.2302G>C | p.Gly768Arg | Missense | 21/40 | - | 8 |
14-23894618-T-G | c.2296A>C | p.Lys766Gln | Missense | 21/40 | - | 1 |
14-23894622-G-C | c.2292C>G | p.Phe764Leu | Missense | 21/40 | - | 15 |
14-23894624-A-G | c.2290T>C | p.Phe764Leu | Missense | 21/40 | - | 15 |
14-23894622-G-T | c.2292C>A | p.Phe764Leu | Missense | 21/40 | - | 15 |
14-23894626-A-C | c.2288T>G | p.Val763Gly | Missense | 21/40 | - | 1 |
14-23894627-C-T | c.2287G>A | p.Val763Met | Missense | 21/40 | - | 2 |
14-23894670-G-A | c.2287-43C>T | - | IntronicSNV | - | 20/39 | 1 |
14-23894905-T-C | c.2285A>G | p.Lys762Arg | Missense | 20/40 | - | 2 |
14-23894908-G-T | c.2282C>A | p.Thr761Asn | Missense | 20/40 | - | 3 |
14-23894917-A-C | c.2273T>G | p.Phe758Cys | Missense | 20/40 | - | 1 |
14-23894936-C-T | c.2254G>A | p.Asp752Asn | Missense | 20/40 | - | 1 |
14-23894944-A-T | c.2246T>A | p.Leu749Gln | Missense | 20/40 | - | 1 |
14-23894961-C-A | c.2229G>T | p.Glu743Asp | Missense | 20/40 | - | 1 |
14-23894961-C-G | c.2229G>C | p.Glu743Asp | Missense | 20/40 | - | 1 |
14-23894965-G-T | c.2225C>A | p.Ala742Glu | Missense | 20/40 | - | 1 |
14-23894969-C-A | c.2221G>T | p.Gly741Trp | Missense | 20/40 | - | 7 |
14-23894969-C-G | c.2221G>C | p.Gly741Arg | Missense | 20/40 | - | 13 |
14-23894970-C-A | c.2220G>T | p.Lys740Asn | Missense | 20/40 | - | 2 |
14-23894970-C-G | c.2220G>C | p.Lys740Asn | Missense | 20/40 | - | 2 |
14-23894973-C-G | c.2217G>C | p.Arg739Ser | Missense | 20/40 | - | 1 |
14-23894973-C-A | c.2217G>T | p.Arg739Ser | Missense | 20/40 | - | 1 |
14-23894982-A-C | c.2208T>G | p.Ile736Met | Missense | 20/40 | - | 1 |
14-23894983-A-G | c.2207T>C | p.Ile736Thr | Missense | 20/40 | - | 17 |
14-23894990-G-C | c.2200C>G | p.Gln734Glu | Missense | 20/40 | - | 1 |
14-23894992-C-T | c.2198G>A | p.Gly733Glu | Missense | 20/40 | - | 3 |
14-23894993-C-T | c.2197G>A | p.Gly733Arg | Missense | 20/40 | - | 1 |
14-23894993-C-G | c.2197G>C | p.Gly733Arg | Missense | 20/40 | - | 1 |
14-23894998-G-A | c.2192C>T | p.Pro731Leu | Missense | 20/40 | - | 2 |
14-23894999-G-C | c.2191C>G | p.Pro731Ala | Missense | 20/40 | - | 2 |
14-23895001-A-G | c.2189T>C | p.Ile730Thr | Missense | 20/40 | - | 2 |
14-23895001-A-T | c.2189T>A | p.Ile730Asn | Missense | 20/40 | - | 2 |
14-23895007-G-A | c.2183C>T | p.Ala728Val | Missense | 20/40 | - | 2 |
14-23895022-C-T | c.2168G>A | p.Arg723His | Missense | 20/40 | - | 1 |
14-23895023-G-C | c.2167C>G | p.Arg723Gly | Missense | 20/40 | - | 24 |
14-23895023-G-A | c.2167C>T | p.Arg723Cys | Missense | 20/40 | - | 9 |
14-23895083-T-C | c.2163-56A>G | - | IntronicSNV | - | 19/39 | 1 |
14-23895169-C-T | c.2162+4G>A | - | IntronicSNV | - | 19/39 | 1 |
14-23895173-C-T | c.2162G>A | p.Arg721Lys | Missense | 19/40 | - | 3 |
14-23895179-CG-GA | c.2155_2156delinsTC | p.Arg719Ser | Missense | 19/40 | - | 1 |
14-23895179-C-G | c.2156G>C | p.Arg719Pro | Missense | 19/40 | - | 2 |
14-23895179-C-A | c.2156G>T | p.Arg719Leu | Missense | 19/40 | - | 1 |
14-23895179-C-T | c.2156G>A | p.Arg719Gln | Missense | 19/40 | - | 28 |
14-23895180-G-C | c.2155C>G | p.Arg719Gly | Missense | 19/40 | - | 2 |
14-23895180-G-A | c.2155C>T | p.Arg719Trp | Missense | 19/40 | - | 53 |
14-23895185-T-A | c.2150A>T | p.Asp717Val | Missense | 19/40 | - | 1 |
14-23895185-T-C | c.2150A>G | p.Asp717Gly | Missense | 19/40 | - | 2 |
14-23895188-C-G | c.2147G>C | p.Gly716Ala | Missense | 19/40 | - | 1 |
14-23895189-C-T | c.2146G>A | p.Gly716Arg | Missense | 19/40 | - | 15 |
14-23895189-C-G | c.2146G>C | p.Gly716Arg | Missense | 19/40 | - | 11 |
14-23895200-C-T | c.2135G>A | p.Arg712His | Missense | 19/40 | - | 1 |
14-23895200-C-A | c.2135G>T | p.Arg712Leu | Missense | 19/40 | - | 4 |
14-23895201-G-C | c.2134C>G | p.Arg712Gly | Missense | 19/40 | - | 1 |
14-23895206-G-T | c.2129C>A | p.Pro710His | Missense | 19/40 | - | 2 |
14-23895212-C-G | c.2123G>C | p.Gly708Ala | Missense | 19/40 | - | 4 |
14-23895230-A-T | c.2105T>A | p.Ile702Asn | Missense | 19/40 | - | 2 |
14-23895233-C-T | c.2102G>A | p.Gly701Asp | Missense | 19/40 | - | 3 |
14-23895236-T-C | c.2099A>G | p.Glu700Gly | Missense | 19/40 | - | 2 |
14-23895242-A-G | c.2093T>C | p.Val698Ala | Missense | 19/40 | - | 3 |
14-23895248-T-C | c.2087A>G | p.Asn696Ser | Missense | 19/40 | - | 2 |
14-23895252-A-G | c.2083T>C | p.Cys695Arg | Missense | 19/40 | - | 1 |
14-23895254-C-T | c.2081G>A | p.Arg694His | Missense | 19/40 | - | 1 |
14-23895255-G-A | c.2080C>T | p.Arg694Cys | Missense | 19/40 | - | 3 |
14-23895266-A-T | c.2069T>A | p.Met690Lys | Missense | 19/40 | - | 1 |
14-23895266-A-G | c.2069T>C | p.Met690Thr | Missense | 19/40 | - | 2 |
14-23896015-C-A | c.2015G>T | p.Cys672Phe | Missense | 18/40 | - | 1 |
14-23896019-G-A | c.2011C>T | p.Arg671Cys | Missense | 18/40 | - | 1 |
14-23896028-G-T | c.2002C>A | p.His668Asn | Missense | 18/40 | - | 1 |
14-23896042-C-T | c.1988G>A | p.Arg663His | Missense | 18/40 | - | 58 |
14-23896043-G-A | c.1987C>T | p.Arg663Cys | Missense | 18/40 | - | 11 |
14-23896054-A-G | c.1976T>C | p.Met659Thr | Missense | 18/40 | - | 1 |
14-23896061-T-G | c.1969A>C | p.Lys657Gln | Missense | 18/40 | - | 3 |
14-23896449-C-A | c.1956G>T | p.Arg652Ser | Missense | 17/40 | - | 1 |
14-23896449-C-G | c.1956G>C | p.Arg652Ser | Missense | 17/40 | - | 1 |
14-23896450-C-G | c.1955G>C | p.Arg652Thr | Missense | 17/40 | - | 1 |
14-23896451-T-C | c.1954A>G | p.Arg652Gly | Missense | 17/40 | - | 3 |
14-23896462-G-A | c.1943C>T | p.Ser648Leu | Missense | 17/40 | - | 2 |
14-23896480-G-A | c.1925C>T | p.Ser642Leu | Missense | 17/40 | - | 2 |
14-23896483-C-T | c.1922G>A | p.Gly641Asp | Missense | 17/40 | - | 1 |
14-23896483-C-G | c.1922G>C | p.Gly641Ala | Missense | 17/40 | - | 1 |
14-23896496-T-C | c.1909A>G | p.Lys637Glu | Missense | 17/40 | - | 2 |
14-23896498-C-G | c.1907G>C | p.Gly636Ala | Missense | 17/40 | - | 1 |
14-23896806-C-A | c.1876G>T | p.Gly626Trp | Missense | 16/40 | - | 1 |
14-23896823-A-G | c.1859T>C | p.Leu620Pro | Missense | 16/40 | - | 2 |
14-23896823-A-T | c.1859T>A | p.Leu620Gln | Missense | 16/40 | - | 1 |
14-23896841-A-G | c.1841T>C | p.Leu614Pro | Missense | 16/40 | - | 1 |
14-23896866-C-T | c.1816G>A | p.Val606Met | Missense | 16/40 | - | 33 |
14-23896884-G-A | c.1798C>T | p.Pro600Ser | Missense | 16/40 | - | 2 |
14-23896891-G-T | c.1791C>A | p.Asn597Lys | Missense | 16/40 | - | 1 |
14-23896891-G-C | c.1791C>G | p.Asn597Lys | Missense | 16/40 | - | 1 |
14-23896902-G-T | c.1780C>A | p.Leu594Met | Missense | 16/40 | - | 2 |
14-23896905-CA-C | c.1777del | p.Trp593Glyfs*63 | Frameshift | 16/40 | - | 1 |
14-23896912-G-GG | c.1770dup | p.Ile591Hisfs*13 | Frameshift | 16/40 | - | 1 |
14-23896923-C-T | c.1759G>A | p.Asp587Asn | Missense | 16/40 | - | 1 |
14-23896925-A-G | c.1757T>C | p.Val586Ala | Missense | 16/40 | - | 1 |
14-23896932-C-G | c.1750G>C | p.Gly584Arg | Missense | 16/40 | - | 6 |
14-23896955-T-C | c.1727A>G | p.His576Arg | Missense | 16/40 | - | 1 |
14-23896982-C-T | c.1700G>A | p.Arg567His | Missense | 16/40 | - | 2 |
14-23897001-C-T | c.1681G>A | p.Ala561Thr | Missense | 16/40 | - | 1 |
14-23897033-G-A | c.1649C>T | p.Ala550Val | Missense | 16/40 | - | 2 |
14-23897049-C-T | c.1633G>A | p.Asp545Asn | Missense | 16/40 | - | 2 |
14-23897056-C-A | c.1626G>T | p.Lys542Asn | Missense | 16/40 | - | 1 |
14-23897056-C-G | c.1626G>C | p.Lys542Asn | Missense | 16/40 | - | 1 |
14-23897074-C-G | c.1608G>C | p.Glu536Asp | Missense | 16/40 | - | 1 |
14-23897074-C-A | c.1608G>T | p.Glu536Asp | Missense | 16/40 | - | 1 |
14-23897085-T-C | c.1597A>G | p.Ile533Val | Missense | 16/40 | - | 1 |
14-23897088-A-G | c.1594T>C | p.Ser532Pro | Missense | 16/40 | - | 20 |
14-23897090-A-C | c.1592T>G | p.Met531Arg | Missense | 16/40 | - | 4 |
14-23897102-G-A | c.1580C>T | p.Pro527Leu | Missense | 16/40 | - | 1 |
14-23897103-G-A | c.1579C>T | p.Pro527Ser | Missense | 16/40 | - | 1 |
14-23897714-C-T | c.1573G>A | p.Glu525Lys | Missense | 15/40 | - | 2 |
14-23897715-GA-AG | c.1571_1572delinsCT | p.Ile524Thr | Missense | 15/40 | - | 1 |
14-23897717-T-C | c.1570A>G | p.Ile524Val | Missense | 15/40 | - | 1 |
14-23897722-T-A | c.1565A>T | p.Asp522Val | Missense | 15/40 | - | 1 |
14-23897738-G-T | c.1549C>A | p.Leu517Met | Missense | 15/40 | - | 2 |
14-23897743-A-G | c.1544T>C | p.Met515Thr | Missense | 15/40 | - | 2 |
14-23897749-A-C | c.1538T>G | p.Phe513Cys | Missense | 15/40 | - | 1 |
14-23897755-A-G | c.1532T>C | p.Ile511Thr | Missense | 15/40 | - | 1 |
14-23897771-T-A | c.1516A>T | p.Ile506Phe | Missense | 15/40 | - | 1 |
14-23897776-T-C | c.1511A>G | p.Glu504Gly | Missense | 15/40 | - | 1 |
14-23897792-C-T | c.1495G>A | p.Glu499Lys | Missense | 15/40 | - | 2 |
14-23897792-TCCT-T | c.1498_1500del | p.Glu500del | InFrameDeletion | 15/40 | - | 2 |
14-23897794-CT-C | c.1493del | p.Gln498Argfs*49 | Frameshift | 15/40 | - | 1 |
14-23897794-T-C | c.1493A>G | p.Gln498Arg | Missense | 15/40 | - | 1 |
14-23897796-C-A | c.1491G>T | p.Glu497Asp | Missense | 15/40 | - | 3 |
14-23897796-C-G | c.1491G>C | p.Glu497Asp | Missense | 15/40 | - | 3 |
14-23897797-T-C | c.1490A>G | p.Glu497Gly | Missense | 15/40 | - | 1 |
14-23897801-G-A | c.1486C>T | p.Leu496Leu | Synonymous | 15/40 | - | 1 |
14-23897809-CAT-C | c.1477_1478del | p.Met493Valfs*19 | Frameshift | 15/40 | - | 1 |
14-23897810-T-C | c.1477A>G | p.Met493Val | Missense | 15/40 | - | 3 |
14-23897840-C-T | c.1447G>A | p.Glu483Lys | Missense | 15/40 | - | 1 |
14-23897851-T-C | c.1436A>G | p.Asn479Ser | Missense | 15/40 | - | 2 |
14-23897851-T-G | c.1436A>C | p.Asn479Thr | Missense | 15/40 | - | 1 |
14-23897854-A-T | c.1433T>A | p.Ile478Asn | Missense | 15/40 | - | 1 |
14-23897855-T-C | c.1432A>G | p.Ile478Val | Missense | 15/40 | - | 1 |
14-23897861-G-A | c.1426C>T | p.Leu476Phe | Missense | 15/40 | - | 1 |
14-23897875-T-C | c.1412A>G | p.Asn471Ser | Missense | 15/40 | - | 1 |
14-23897914-A-G | c.1408-35T>C | - | IntronicSNV | - | 14/39 | 1 |
14-23898166-C-A | c.1405G>T | p.Asp469Tyr | Missense | 14/40 | - | 2 |
14-23898169-A-G | c.1402T>C | p.Phe468Leu | Missense | 14/40 | - | 3 |
14-23898196-C-T | c.1375G>A | p.Val459Ile | Missense | 14/40 | - | 1 |
14-23898201-A-C | c.1370T>G | p.Ile457Arg | Missense | 14/40 | - | 1 |
14-23898201-A-G | c.1370T>C | p.Ile457Thr | Missense | 14/40 | - | 3 |
14-23898203-G-A | c.1368C>T | p.Phe456Phe | Synonymous | 14/40 | - | 1 |
14-23898213-C-T | c.1358G>A | p.Arg453His | Missense | 14/40 | - | 3 |
14-23898214-G-T | c.1357C>A | p.Arg453Ser | Missense | 14/40 | - | 3 |
14-23898214-G-A | c.1357C>T | p.Arg453Cys | Missense | 14/40 | - | 63 |
14-23898215-T-A | c.1356A>T | p.Pro452Pro | Synonymous | 14/40 | - | 1 |
14-23898221-C-A | c.1350G>T | p.Lys450Asn | Missense | 14/40 | - | 1 |
14-23898225-G-C | c.1346C>G | p.Thr449Ser | Missense | 14/40 | - | 1 |
14-23898226-T-A | c.1345A>T | p.Thr449Ser | Missense | 14/40 | - | 1 |
14-23898235-T-G | c.1336A>C | p.Thr446Pro | Missense | 14/40 | - | 1 |
14-23898246-C-T | c.1325G>A | p.Arg442His | Missense | 14/40 | - | 2 |
14-23898247-G-A | c.1324C>T | p.Arg442Cys | Missense | 14/40 | - | 2 |
14-23898247-G-C | c.1324C>G | p.Arg442Gly | Missense | 14/40 | - | 14 |
14-23898249-G-A | c.1322C>T | p.Thr441Met | Missense | 14/40 | - | 4 |
14-23898267-A-G | c.1304T>C | p.Met435Thr | Missense | 14/40 | - | 1 |
14-23898280-C-G | c.1291G>C | p.Val431Leu | Missense | 14/40 | - | 2 |
14-23898288-G-T | c.1283C>A | p.Ala428Asp | Missense | 14/40 | - | 1 |
14-23898292-G-T | c.1279C>A | p.Leu427Met | Missense | 14/40 | - | 1 |
14-23898294-GCC-TCT | c.1275_1277delinsAGA | p.Ala426Glu | Missense | 14/40 | - | 1 |
14-23898298-C-G | c.1273G>C | p.Gly425Arg | Missense | 14/40 | - | 2 |
14-23898298-C-T | c.1273G>A | p.Gly425Arg | Missense | 14/40 | - | 2 |
14-23898443-G-T | c.1252C>A | p.Gln418Lys | Missense | 13/40 | - | 1 |
14-23898460-G-T | c.1235C>A | p.Thr412Asn | Missense | 13/40 | - | 2 |
14-23898464-C-T | c.1231G>A | p.Val411Ile | Missense | 13/40 | - | 5 |
14-23898476-C-A | c.1219G>T | p.Gly407Cys | Missense | 13/40 | - | 3 |
14-23898479-C-T | c.1216G>A | p.Val406Met | Missense | 13/40 | - | 2 |
14-23898481-T-TGT | c.1214_1215insCA | p.Lys405Asnfs*17 | Frameshift | 13/40 | - | 1 |
14-23898487-C-T | c.1208G>A | p.Arg403Gln | Missense | 13/40 | - | 104 |
14-23898487-CG-AC | c.1207_1208delinsGT | p.Arg403Val | Missense | 13/40 | - | 1 |
14-23898487-C-A | c.1208G>T | p.Arg403Leu | Missense | 13/40 | - | 2 |
14-23898487-CG-GA | c.1207_1208delinsTC | p.Arg403Ser | Missense | 13/40 | - | 4 |
14-23898488-G-A | c.1207C>T | p.Arg403Trp | Missense | 13/40 | - | 22 |
14-23898488-G-C | c.1207C>G | p.Arg403Gly | Missense | 13/40 | - | 4 |
14-23898513-G-T | c.1182C>A | p.Asp394Glu | Missense | 13/40 | - | 1 |
14-23898517-G-A | c.1178C>T | p.Ala393Val | Missense | 13/40 | - | 2 |
14-23898518-C-T | c.1177G>A | p.Ala393Thr | Missense | 13/40 | - | 1 |
14-23898526-A-G | c.1169T>C | p.Leu390Pro | Missense | 13/40 | - | 3 |
14-23898536-G-A | c.1159C>T | p.Leu387Phe | Missense | 13/40 | - | 2 |
14-23898538-T-C | c.1157A>G | p.Tyr386Cys | Missense | 13/40 | - | 2 |
14-23898550-TC-CG | c.1144_1145delinsCG | p.Asp382Arg | Missense | 13/40 | - | 1 |
14-23898550-T-C | c.1145A>G | p.Asp382Gly | Missense | 13/40 | - | 1 |
14-23898551-C-A | c.1144G>T | p.Asp382Tyr | Missense | 13/40 | - | 3 |
14-23898553-G-T | c.1142C>A | p.Ala381Asp | Missense | 13/40 | - | 1 |
14-23898987-C-T | c.1135G>A | p.Glu379Lys | Missense | 12/40 | - | 1 |
14-23898994-G-A | c.1128C>T | p.Asp376Asp | Synonymous | 12/40 | - | 2 |
14-23898994-G-T | c.1128C>A | p.Asp376Glu | Missense | 12/40 | - | 1 |
14-23899001-T-A | c.1121A>T | p.Glu374Val | Missense | 12/40 | - | 1 |
14-23899010-CT-C | c.1112del | p.Glu371Glyfs*20 | Frameshift | 12/40 | - | 1 |
14-23899016-C-T | c.1106G>A | p.Arg369Gln | Missense | 12/40 | - | 5 |
14-23899027-C-A | c.1095G>T | p.Lys365Asn | Missense | 12/40 | - | 2 |
14-23899027-C-T | c.1095G>A | p.Lys365Lys | Synonymous | 12/40 | - | 7 |
14-23899027-C-G | c.1095G>C | p.Lys365Asn | Missense | 12/40 | - | 2 |
14-23899037-A-C | c.1085T>G | p.Met362Arg | Missense | 12/40 | - | 2 |
14-23899059-C-A | c.1063G>T | p.Ala355Ser | Missense | 12/40 | - | 1 |
14-23899059-C-T | c.1063G>A | p.Ala355Thr | Missense | 12/40 | - | 4 |
14-23899060-G-A | c.1062C>T | p.Gly354Gly | Synonymous | 12/40 | - | 6 |
14-23899062-C-T | c.1060G>A | p.Gly354Ser | Missense | 12/40 | - | 1 |
14-23899071-T-C | c.1051A>G | p.Lys351Glu | Missense | 12/40 | - | 2 |
14-23899074-A-C | c.1048T>G | p.Tyr350Asp | Missense | 12/40 | - | 1 |
14-23899074-A-T | c.1048T>A | p.Tyr350Asn | Missense | 12/40 | - | 2 |
14-23899079-G-T | c.1043C>A | p.Ser348Tyr | Missense | 12/40 | - | 1 |
14-23899103-C-T | c.1019G>A | p.Gly340Asp | Missense | 12/40 | - | 1 |
14-23899110-C-T | c.1012G>A | p.Val338Met | Missense | 12/40 | - | 1 |
14-23899123-C-T | c.1000-1G>A | - | IntronicSNV | - | 11/39 | 1 |
14-23899725-A-G | c.999+44T>C | - | IntronicSNV | - | 11/39 | 1 |
14-23899777-C-G | c.991G>C | p.Ala331Pro | Missense | 11/40 | - | 2 |
14-23899785-T-C | c.983A>G | p.Glu328Gly | Missense | 11/40 | - | 2 |
14-23899792-C-G | c.976G>C | p.Ala326Pro | Missense | 11/40 | - | 2 |
14-23899793-G-A | c.975C>T | p.Asp325Asp | Synonymous | 11/40 | - | 2 |
14-23899796-A-AA | c.972dup | p.Asp325* | Nonsense | 11/40 | - | 1 |
14-23899800-A-T | c.968T>A | p.Ile323Asn | Missense | 11/40 | - | 3 |
14-23899806-G-A | c.962C>T | p.Ala321Val | Missense | 11/40 | - | 2 |
14-23899806-G-T | c.962C>A | p.Ala321Asp | Missense | 11/40 | - | 1 |
14-23899815-G-T | c.953C>A | p.Thr318Asn | Missense | 11/40 | - | 1 |
14-23899838-A-G | c.930T>C | p.Tyr310Tyr | Synonymous | 11/40 | - | 1 |
14-23899843-C-T | c.925G>A | p.Asp309Asn | Missense | 11/40 | - | 2 |
14-23899848-G-C | c.920C>G | p.Pro307Arg | Missense | 11/40 | - | 1 |
14-23899848-G-T | c.920C>A | p.Pro307His | Missense | 11/40 | - | 2 |
14-23899852-T-C | c.916A>G | p.Asn306Asp | Missense | 11/40 | - | 1 |
14-23899866-A-T | c.902T>A | p.Leu301Gln | Missense | 11/40 | - | 1 |
14-23900093-C-T | c.895+17G>A | - | IntronicSNV | - | 10/39 | 1 |
14-23900110-C-A | c.895G>T | p.Asp299Tyr | Missense | 10/40 | - | 1 |
14-23900133-G-A | c.872C>T | p.Ser291Phe | Missense | 10/40 | - | 1 |
14-23900157-T-C | c.848A>G | p.Tyr283Cys | Missense | 10/40 | - | 1 |
14-23900158-A-C | c.847T>G | p.Tyr283Asp | Missense | 10/40 | - | 4 |
14-23900163-C-T | c.842G>A | p.Arg281Lys | Missense | 10/40 | - | 1 |
14-23900163-C-G | c.842G>C | p.Arg281Thr | Missense | 10/40 | - | 6 |
14-23900189-TCT-CAT | c.815_816delinsTG | p.Arg272Met | Missense | 10/40 | - | 1 |
14-23900193-G-A | c.812C>T | p.Ser271Phe | Missense | 10/40 | - | 1 |
14-23900195-T-A | c.810A>T | p.Lys270Asn | Missense | 10/40 | - | 1 |
14-23900195-T-G | c.810A>C | p.Lys270Asn | Missense | 10/40 | - | 1 |
14-23900206-G-C | c.799C>G | p.Leu267Val | Missense | 10/40 | - | 2 |
14-23900208-T-A | c.797A>T | p.Tyr266Phe | Missense | 10/40 | - | 1 |
14-23900633-C-T | c.790G>A | p.Glu264Lys | Missense | 9/40 | - | 1 |
14-23900634-T-C | c.789A>G | p.Ile263Met | Missense | 9/40 | - | 1 |
14-23900635-A-G | c.788T>C | p.Ile263Thr | Missense | 9/40 | - | 4 |
14-23900647-G-T | c.776C>A | p.Ala259Glu | Missense | 9/40 | - | 1 |
14-23900656-C-T | c.767G>A | p.Gly256Glu | Missense | 9/40 | - | 2 |
14-23900662-G-T | c.761C>A | p.Ala254Glu | Missense | 9/40 | - | 1 |
14-23900663-C-T | c.760G>A | p.Ala254Thr | Missense | 9/40 | - | 1 |
14-23900672-G-T | c.751C>A | p.His251Asn | Missense | 9/40 | - | 6 |
14-23900677-C-T | c.746G>A | p.Arg249Gln | Missense | 9/40 | - | 9 |
14-23900677-CG-TC | c.745_746delinsGA | p.Arg249Glu | Missense | 9/40 | - | 1 |
14-23900678-G-C | c.745C>G | p.Arg249Gly | Missense | 9/40 | - | 2 |
14-23900680-A-G | c.743T>C | p.Ile248Thr | Missense | 9/40 | - | 1 |
14-23900681-T-A | c.742A>T | p.Ile248Phe | Missense | 9/40 | - | 1 |
14-23900682-G-C | c.741C>G | p.Phe247Leu | Missense | 9/40 | - | 1 |
14-23900682-G-T | c.741C>A | p.Phe247Leu | Missense | 9/40 | - | 1 |
14-23900684-A-G | c.739T>C | p.Phe247Leu | Missense | 9/40 | - | 1 |
14-23900686-T-A | c.737A>T | p.Lys246Ile | Missense | 9/40 | - | 1 |
14-23900689-C-T | c.734G>A | p.Gly245Glu | Missense | 9/40 | - | 1 |
14-23900793-C-T | c.732+1G>A | - | IntronicSNV | - | 8/39 | 2 |
14-23900794-G-A | c.732C>T | p.Phe244Phe | Synonymous | 8/40 | - | 7 |
14-23900795-A-C | c.731T>G | p.Phe244Cys | Missense | 8/40 | - | 1 |
14-23900794-G-C | c.732C>G | p.Phe244Leu | Missense | 8/40 | - | 4 |
14-23900798-C-T | c.728G>A | p.Arg243His | Missense | 8/40 | - | 7 |
14-23900801-GA-CA | c.725delinsG | p.Ser242Cys | Missense | 8/40 | - | 1 |
14-23900804-G-A | c.722C>T | p.Ser241Phe | Missense | 8/40 | - | 1 |
14-23900811-C-T | c.715G>A | p.Asp239Asn | Missense | 8/40 | - | 4 |
14-23900817-G-A | c.709C>T | p.Arg237Trp | Missense | 8/40 | - | 3 |
14-23900832-T-G | c.694A>C | p.Asn232His | Missense | 8/40 | - | 1 |
14-23900841-C-T | c.685G>A | p.Ala229Thr | Missense | 8/40 | - | 1 |
14-23900847-G-C | c.679C>G | p.Leu227Val | Missense | 8/40 | - | 1 |
14-23900849-G-A | c.677C>T | p.Ala226Val | Missense | 8/40 | - | 2 |
14-23900850-C-T | c.676G>A | p.Ala226Thr | Missense | 8/40 | - | 3 |
14-23900859-C-A | c.667G>T | p.Ala223Ser | Missense | 8/40 | - | 1 |
14-23900859-C-T | c.667G>A | p.Ala223Thr | Missense | 8/40 | - | 3 |
14-23900880-G-C | c.646C>G | p.Leu216Val | Missense | 8/40 | - | 1 |
14-23900885-C-T | c.641G>A | p.Gly214Asp | Missense | 8/40 | - | 2 |
14-23900984-G-C | c.625C>G | p.Gln209Glu | Missense | 7/40 | - | 1 |
14-23900993-T-G | c.616A>C | p.Lys206Gln | Missense | 7/40 | - | 1 |
14-23900996-T-A | c.613A>T | p.Ser205Cys | Missense | 7/40 | - | 1 |
14-23900998-C-T | c.611G>A | p.Arg204His | Missense | 7/40 | - | 6 |
14-23900999-G-A | c.610C>T | p.Arg204Cys | Missense | 7/40 | - | 2 |
14-23901007-A-G | c.602T>C | p.Ile201Thr | Missense | 7/40 | - | 5 |
14-23901010-G-A | c.599C>T | p.Ala200Val | Missense | 7/40 | - | 5 |
14-23901011-C-T | c.598G>A | p.Ala200Thr | Missense | 7/40 | - | 4 |
14-23901011-C-G | c.598G>C | p.Ala200Pro | Missense | 7/40 | - | 1 |
14-23901012-T-G | c.597A>C | p.Ala199Ala | Synonymous | 7/40 | - | 3 |
14-23901012-T-A | c.597A>T | p.Ala199Ala | Synonymous | 7/40 | - | 3 |
14-23901012-T-C | c.597A>G | p.Ala199Ala | Synonymous | 7/40 | - | 3 |
14-23901013-G-A | c.596C>T | p.Ala199Val | Missense | 7/40 | - | 1 |
14-23901031-T-C | c.578A>G | p.Gln193Arg | Missense | 7/40 | - | 1 |
14-23901034-A-G | c.575T>C | p.Ile192Thr | Missense | 7/40 | - | 1 |
14-23901039-CCT-CAT | c.569delinsT | p.Arg190Met | Missense | 7/40 | - | 1 |
14-23901046-G-T | c.563C>A | p.Thr188Asn | Missense | 7/40 | - | 1 |
14-23901050-T-TT | c.560dup | p.Asn187Lysfs*106 | Frameshift | 7/40 | - | 1 |
14-23901059-TT-T | c.551del | p.Lys184Argfs*80 | Frameshift | 7/40 | - | 1 |
14-23901068-C-G | c.541G>C | p.Gly181Arg | Missense | 7/40 | - | 1 |
14-23901068-C-T | c.541G>A | p.Gly181Arg | Missense | 7/40 | - | 1 |
14-23901077-C-T | c.532G>A | p.Gly178Arg | Missense | 7/40 | - | 1 |
14-23901077-C-G | c.532G>C | p.Gly178Arg | Missense | 7/40 | - | 1 |
14-23901688-G-C | c.530C>G | p.Thr177Ser | Missense | 6/40 | - | 1 |
14-23901688-G-A | c.530C>T | p.Thr177Ile | Missense | 6/40 | - | 1 |
14-23901710-C-T | c.508G>A | p.Glu170Lys | Missense | 6/40 | - | 2 |
14-23901713-T-C | c.505A>G | p.Arg169Gly | Missense | 6/40 | - | 1 |
14-23901862-T-G | c.488A>C | p.Gln163Pro | Missense | 5/40 | - | 3 |
14-23901865-T-C | c.485A>G | p.Tyr162Cys | Missense | 5/40 | - | 1 |
14-23901869-C-G | c.481G>C | p.Ala161Pro | Missense | 5/40 | - | 1 |
14-23901896-GG-G | c.457del | p.His153Thrfs*14 | Frameshift | 5/40 | - | 1 |
14-23901912-C-A | c.438G>T | p.Lys146Asn | Missense | 5/40 | - | 3 |
14-23901919-C-A | c.431G>T | p.Gly144Val | Missense | 5/40 | - | 1 |
14-23901922-C-T | c.428G>A | p.Arg143Gln | Missense | 5/40 | - | 3 |
14-23901923-G-A | c.427C>T | p.Arg143Trp | Missense | 5/40 | - | 1 |
14-23901923-G-C | c.427C>G | p.Arg143Gly | Missense | 5/40 | - | 1 |
14-23901935-C-A | c.415G>T | p.Val139Leu | Missense | 5/40 | - | 2 |
14-23901950-A-G | c.400T>C | p.Tyr134His | Missense | 5/40 | - | 1 |
14-23901953-C-T | c.397G>A | p.Val133Met | Missense | 5/40 | - | 1 |
14-23902003-GT-GG | c.346delinsC | p.Thr116Pro | Missense | 5/40 | - | 1 |
14-23902293-G-A | c.345C>T | p.Tyr115Tyr | Synonymous | 4/40 | - | 1 |
14-23902293-G-C | c.345C>G | p.Tyr115* | Nonsense | 4/40 | - | 1 |
14-23902295-A-G | c.343T>C | p.Tyr115His | Missense | 4/40 | - | 2 |
14-23902313-TA-T | c.325del | p.Tyr109Thrfs*5 | Frameshift | 4/40 | - | 1 |
14-23902317-A-T | c.321T>A | p.Asp107Glu | Missense | 4/40 | - | 1 |
14-23902317-A-C | c.321T>G | p.Asp107Glu | Missense | 4/40 | - | 1 |
14-23902394-G-A | c.244C>T | p.Pro82Ser | Missense | 4/40 | - | 2 |
14-23902403-G-C | c.235C>G | p.Gln79Glu | Missense | 4/40 | - | 1 |
14-23902753-G-A | c.189C>T | p.Thr63Thr | Synonymous | 3/40 | - | 6 |
14-23902758-C-G | c.184G>C | p.Glu62Gln | Missense | 3/40 | - | 1 |
14-23902760-GC-TG | c.181_182delinsCA | p.Ala61His | Missense | 3/40 | - | 1 |
14-23902764-T-C | c.178A>G | p.Thr60Ala | Missense | 3/40 | - | 1 |
14-23902772-C-A | c.170G>T | p.Gly57Val | Missense | 3/40 | - | 1 |
14-23902773-C-G | c.169G>C | p.Gly57Arg | Missense | 3/40 | - | 1 |
14-23902781-C-A | c.161G>T | p.Arg54Leu | Missense | 3/40 | - | 1 |
14-23902781-C-T | c.161G>A | p.Arg54Gln | Missense | 3/40 | - | 1 |
14-23902793-T-C | c.149A>G | p.Lys50Arg | Missense | 3/40 | - | 1 |
14-23902799-T-C | c.143A>G | p.Lys48Arg | Missense | 3/40 | - | 1 |
14-23902806-A-G | c.136T>C | p.Phe46Leu | Missense | 3/40 | - | 2 |
14-23902821-C-T | c.121G>A | p.Asp41Asn | Missense | 3/40 | - | 1 |
14-23902827-C-T | c.115G>A | p.Val39Met | Missense | 3/40 | - | 1 |
14-23902865-G-A | c.77C>T | p.Ala26Val | Missense | 3/40 | - | 7 |
14-23902875-G-A | c.67C>T | p.Arg23Trp | Missense | 3/40 | - | 1 |
14-23902878-C-T | c.64G>A | p.Glu22Lys | Missense | 3/40 | - | 2 |
14-23902893-G-A | c.49C>T | p.Arg17Cys | Missense | 3/40 | - | 2 |
14-23902905-C-T | c.37G>A | p.Ala13Thr | Missense | 3/40 | - | 1 |
14-23902907-G-A | c.35C>T | p.Ala12Val | Missense | 3/40 | - | 1 |
14-23902934-T-G | c.8A>C | p.Asp3Ala | Missense | 3/40 | - | 1 |
14-23902940-A-AG | c.1_2insC | p.Met1? | CdsStartInsertion | 3/40 | - | 1 |
14-23902974-C-G | c.-8-25G>C | - | IntronicSNV | - | 2/39 | 1 |
14-23902974-C-A | c.-8-25G>T | - | IntronicSNV | - | 2/39 | 1 |
14-23902974-C-T | c.-8-25G>A | - | IntronicSNV | - | 2/39 | 1 |
14-23903380-A-G | c.-9+23T>C | - | intron_variant | - | 2/39 | 1 |