| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 7-100487721-G-T | c.*114C>A | - | 3-UTRSNV | 5/5 | - | 15 |
| 7-100487841-G-GGGT | c.1838_1839insACC | p.D613delinsEP | MultiAAMissense | 5/5 | - | 1 |
| 7-100487843-C-T | c.1837G>A | p.D613N | Missense | 5/5 | - | 1 |
| 7-100487844-TG-AA | c.1835_1836delinsTT | p.S612F | Missense | 5/5 | - | 1 |
| 7-100487845-G-A | c.1835C>T | p.S612L | Missense | 5/5 | - | 1 |
| 7-100487847-G-T | c.1833C>A | p.C611* | Nonsense | 5/5 | - | 1 |
| 7-100487848-C-G | c.1832G>C | p.C611S | Missense | 5/5 | - | 1 |
| 7-100487849-A-T | c.1831T>A | p.C611S | Missense | 5/5 | - | 2 |
| 7-100487856-C-T | c.1824G>A | p.Q608= | Synonymous | 5/5 | - | 1 |
| 7-100487857-T-C | c.1823A>G | p.Q608R | Missense | 5/5 | - | 1 |
| 7-100487859-C-A | c.1821G>T | p.K607N | Missense | 5/5 | - | 3 |
| 7-100487859-C-G | c.1821G>C | p.K607N | Missense | 5/5 | - | 2 |
| 7-100487863-C-T | c.1817G>A | p.S606N | Missense | 5/5 | - | 1 |
| 7-100487869-T-A | c.1811A>T | p.H604L | Missense | 5/5 | - | 1 |
| 7-100487872-T-C | c.1808A>G | p.D603G | Missense | 5/5 | - | 1 |
| 7-100487873-C-T | c.1807G>A | p.D603N | Missense | 5/5 | - | 1 |
| 7-100487877-C-A | c.1803G>T | p.Q601H | Missense | 5/5 | - | 1 |
| 7-100487884-T-G | c.1796A>C | p.K599T | Missense | 5/5 | - | 5 |
| 7-100487883-C-CT | c.1796dup | p.N600Efs*31 | Frameshift | 5/5 | - | 1 |
| 7-100487886-C-T | c.1794G>A | p.W598* | Nonsense | 5/5 | - | 1 |
| 7-100487887-C-T | c.1793G>A | p.W598* | Nonsense | 5/5 | - | 1 |
| 7-100487893-A-G | c.1787T>C | p.V596A | Missense | 5/5 | - | 1 |
| 7-100487895-C-A | c.1785G>T | p.M595I | Missense | 5/5 | - | 1 |
| 7-100487896-A-G | c.1784T>C | p.M595T | Missense | 5/5 | - | 2 |
| 7-100487902-G-A | c.1778C>T | p.S593F | Missense | 5/5 | - | 1 |
| 7-100487902-GA-TT | c.1777_1778delinsAA | p.S593N | Missense | 5/5 | - | 1 |
| 7-100487905-C-T | c.1775G>A | p.S592N | Missense | 5/5 | - | 1 |
| 7-100487906-T-A | c.1774A>T | p.S592C | Missense | 5/5 | - | 1 |
| 7-100487907-C-T | c.1773G>A | p.W591* | Nonsense | 5/5 | - | 1 |
| 7-100487934-GCG-CCA | c.1744_1746delinsTGG | p.R582W | Missense | 5/5 | - | 1 |
| 7-100487939-C-A | c.1741G>T | p.E581* | Nonsense | 5/5 | - | 2 |
| 7-100487939-C-G | c.1741G>C | p.E581Q | Missense | 5/5 | - | 2 |
| 7-100487945-C-A | c.1735G>T | p.E579* | Nonsense | 5/5 | - | 1 |
| 7-100487945-C-G | c.1735G>C | p.E579Q | Missense | 5/5 | - | 1 |
| 7-100487945-C-T | c.1735G>A | p.E579K | Missense | 5/5 | - | 2 |
| 7-100487949-G-A | c.1731C>T | p.L577= | Synonymous | 5/5 | - | 1 |
| 7-100487949-G-C | c.1731C>G | p.L577= | Synonymous | 5/5 | - | 1 |
| 7-100487949-G-T | c.1731C>A | p.L577= | Synonymous | 5/5 | - | 1 |
| 7-100487952-C-T | c.1728G>A | p.T576= | Synonymous | 5/5 | - | 1 |
| 7-100488407-C-T | c.1723+383G>A | - | IntronicSNV | - | 4/4 | 5 |
| 7-100488634-A-G | c.1723+156T>C | - | IntronicSNV | - | 4/4 | 1 |
| 7-100488638-G-T | c.1723+152C>A | - | IntronicSNV | - | 4/4 | 4 |
| 7-100488646-A-G | c.1723+144T>C | - | IntronicSNV | - | 4/4 | 1 |
| 7-100488646-A-T | c.1723+144T>A | - | IntronicSNV | - | 4/4 | 1 |
| 7-100488658-G-C | c.1723+132C>G | - | IntronicSNV | - | 4/4 | 27 |
| 7-100488791-G-A | c.1722C>T | p.T574= | Synonymous | 4/5 | - | 2 |
| 7-100488791-G-C | c.1722C>G | p.T574= | Synonymous | 4/5 | - | 1 |
| 7-100488791-GG-CA | c.1721_1722delinsTG | p.T574M | Missense | 4/5 | - | 2 |
| 7-100488791-G-T | c.1722C>A | p.T574= | Synonymous | 4/5 | - | 1 |
| 7-100488797-G-A | c.1716C>T | p.S572= | Synonymous | 4/5 | - | 2 |
| 7-100488803-C-T | c.1710G>A | p.L570= | Synonymous | 4/5 | - | 1 |
| 7-100488808-T-G | c.1705A>C | p.K569Q | Missense | 4/5 | - | 1 |
| 7-100488809-G-A | c.1704C>T | p.P568= | Synonymous | 4/5 | - | 1 |
| 7-100488810-G-A | c.1703C>T | p.P568L | Missense | 4/5 | - | 1 |
| 7-100488810-G-T | c.1703C>A | p.P568H | Missense | 4/5 | - | 2 |
| 7-100488811-G-A | c.1702C>T | p.P568S | Missense | 4/5 | - | 3 |
| 7-100488814-G-T | c.1699C>A | p.L567I | Missense | 4/5 | - | 1 |
| 7-100488819-C-T | c.1694G>A | p.R565H | Missense | 4/5 | - | 1 |
| 7-100488820-G-A | c.1693C>T | p.R565C | Missense | 4/5 | - | 2 |
| 7-100488823-T-C | c.1690A>G | p.N564D | Missense | 4/5 | - | 1 |
| 7-100488824-C-T | c.1689G>A | p.W563* | Nonsense | 4/5 | - | 1 |
| 7-100488825-C-T | c.1688G>A | p.W563* | Nonsense | 4/5 | - | 1 |
| 7-100488826-A-G | c.1687T>C | p.W563R | Missense | 4/5 | - | 1 |
| 7-100488827-G-A | c.1686C>T | p.F562= | Synonymous | 4/5 | - | 1 |
| 7-100488830-GG-CT | c.1682_1683delinsAG | p.A561E | Missense | 4/5 | - | 1 |
| 7-100488838-C-T | c.1675G>A | p.A559T | Missense | 4/5 | - | 1 |
| 7-100488840-T-G | c.1673A>C | p.Q558P | Missense | 4/5 | - | 1 |
| 7-100488844-C-T | c.1669G>A | p.A557T | Missense | 4/5 | - | 2 |
| 7-100488845-G-A | c.1668C>T | p.R556= | Synonymous | 4/5 | - | 1 |
| 7-100488846-C-G | c.1667G>C | p.R556P | Missense | 4/5 | - | 1 |
| 7-100488846-C-T | c.1667G>A | p.R556H | Missense | 4/5 | - | 1 |
| 7-100488850-G-C | c.1663C>G | p.L555V | Missense | 4/5 | - | 1 |
| 7-100488850-G-T | c.1663C>A | p.L555M | Missense | 4/5 | - | 1 |
| 7-100488852-C-T | c.1661G>A | p.G554E | Missense | 4/5 | - | 1 |
| 7-100488854-C-T | c.1659G>A | p.R553= | Synonymous | 4/5 | - | 1 |
| 7-100488856-G-A | c.1657C>T | p.R553W | Missense | 4/5 | - | 2 |
| 7-100488858-C-A | c.1655G>T | p.R552L | Missense | 4/5 | - | 1 |
| 7-100488859-G-A | c.1654C>T | p.R552W | Missense | 4/5 | - | 5 |
| 7-100488865-C-T | c.1648G>A | p.E550K | Missense | 4/5 | - | 2 |
| 7-100488866-C-T | c.1647G>A | p.L549= | Synonymous | 4/5 | - | 1 |
| 7-100488870-G-A | c.1643C>T | p.P548L | Missense | 4/5 | - | 5 |
| 7-100488871-G-A | c.1642C>T | p.P548S | Missense | 4/5 | - | 2 |
| 7-100488873-C-A | c.1640G>T | p.R547L | Missense | 4/5 | - | 1 |
| 7-100488876-A-C | c.1637T>G | p.L546R | Missense | 4/5 | - | 1 |
| 7-100488877-G-T | c.1636C>A | p.L546M | Missense | 4/5 | - | 1 |
| 7-100488880-C-T | c.1633G>A | p.D545N | Missense | 4/5 | - | 2 |
| 7-100488884-A-C | c.1629T>G | p.S543R | Missense | 4/5 | - | 1 |
| 7-100488884-A-T | c.1629T>A | p.S543R | Missense | 4/5 | - | 1 |
| 7-100488886-T-G | c.1627A>C | p.S543R | Missense | 4/5 | - | 1 |
| 7-100488889-C-T | c.1624G>A | p.V542I | Missense | 4/5 | - | 1 |
| 7-100488890-G-A | c.1623C>T | p.Y541= | Synonymous | 4/5 | - | 4 |
| 7-100488897-T-C | c.1616A>G | p.Q539R | Missense | 4/5 | - | 1 |
| 7-100488900-G-A | c.1613C>T | p.A538V | Missense | 4/5 | - | 2 |
| 7-100488901-C-T | c.1612G>A | p.A538T | Missense | 4/5 | - | 2 |
| 7-100488906-G-A | c.1607C>T | p.A536V | Missense | 4/5 | - | 1 |
| 7-100488907-C-T | c.1606G>A | p.A536T | Missense | 4/5 | - | 4 |
| 7-100488908-CG-GA | c.1604_1605delinsTC | p.T535I | Missense | 4/5 | - | 1 |
| 7-100488908-C-T | c.1605G>A | p.T535= | Synonymous | 4/5 | - | 1 |
| 7-100488909-G-A | c.1604C>T | p.T535M | Missense | 4/5 | - | 2 |
| 7-100488911-G-A | c.1602C>T | p.Y534= | Synonymous | 4/5 | - | 2 |
| 7-100488911-G-T | c.1602C>A | p.Y534* | Nonsense | 4/5 | - | 1 |
| 7-100488914-C-A | c.1599G>T | p.P533= | Synonymous | 4/5 | - | 2 |
| 7-100488914-C-T | c.1599G>A | p.P533= | Synonymous | 4/5 | - | 2 |
| 7-100488919-G-A | c.1594C>T | p.P532S | Missense | 4/5 | - | 1 |
| 7-100488925-G-A | c.1588C>T | p.Q530* | Nonsense | 4/5 | - | 2 |
| 7-100488931-C-T | c.1582G>A | p.A528T | Missense | 4/5 | - | 1 |
| 7-100488937-G-C | c.1576C>G | p.P526A | Missense | 4/5 | - | 3 |
| 7-100488949-C-A | c.1564G>T | p.E522* | Nonsense | 4/5 | - | 1 |
| 7-100488956-A-G | c.1557T>C | p.D519= | Synonymous | 4/5 | - | 3 |
| 7-100488958-C-T | c.1555G>A | p.D519N | Missense | 4/5 | - | 3 |
| 7-100488959-C-T | c.1554G>A | p.G518= | Synonymous | 4/5 | - | 4 |
| 7-100489639-C-G | c.1553+316G>C | - | IntronicSNV | - | 3/4 | 6 |
| 7-100489639-C-T | c.1553+316G>A | - | IntronicSNV | - | 3/4 | 6 |
| 7-100489850-G-A | c.1553+105C>T | - | IntronicSNV | - | 3/4 | 1 |
| 7-100489955-C-T | c.1553G>A | p.G518E | Missense | 3/5 | - | 1 |
| 7-100489956-C-A | c.1552G>T | p.G518W | Missense | 3/5 | - | 1 |
| 7-100489961-C-G | c.1547G>C | p.R516P | Missense | 3/5 | - | 1 |
| 7-100489981-TC-AT | c.1526_1527delinsAT | p.R509H | Missense | 3/5 | - | 1 |
| 7-100489982-C-T | c.1526G>A | p.R509Q | Missense | 3/5 | - | 3 |
| 7-100489981-T-A | c.1527A>T | p.R509= | Synonymous | 3/5 | - | 1 |
| 7-100489981-T-C | c.1527A>G | p.R509= | Synonymous | 3/5 | - | 2 |
| 7-100489981-T-G | c.1527A>C | p.R509= | Synonymous | 3/5 | - | 1 |
| 7-100489983-G-T | c.1525C>A | p.R509= | Synonymous | 3/5 | - | 1 |
| 7-100489990-TCG-GCT | c.1516_1518delinsAGC | p.R506S | Missense | 3/5 | - | 1 |
| 7-100489991-C-T | c.1517G>A | p.R506Q | Missense | 3/5 | - | 3 |
| 7-100489992-G-A | c.1516C>T | p.R506* | Nonsense | 3/5 | - | 1 |
| 7-100489998-C-A | c.1510G>T | p.A504S | Missense | 3/5 | - | 1 |
| 7-100489998-C-T | c.1510G>A | p.A504T | Missense | 3/5 | - | 4 |
| 7-100489999-G-A | c.1509C>T | p.F503= | Synonymous | 3/5 | - | 2 |
| 7-100490002-G-A | c.1506C>T | p.I502= | Synonymous | 3/5 | - | 1 |
| 7-100490002-G-T | c.1506C>A | p.I502= | Synonymous | 3/5 | - | 1 |
| 7-100490005-T-G | c.1503A>C | p.K501N | Missense | 3/5 | - | 1 |
| 7-100490010-C-CA | c.1497_1498insT | p.E500* | Nonsense | 3/5 | - | 1 |
| 7-100490010-C-T | c.1498G>A | p.E500K | Missense | 3/5 | - | 5 |
| 7-100490013-C-G | c.1495G>C | p.E499Q | Missense | 3/5 | - | 1 |
| 7-100490013-C-T | c.1495G>A | p.E499K | Missense | 3/5 | - | 1 |
| 7-100490017-C-A | c.1491G>T | p.T497= | Synonymous | 3/5 | - | 1 |
| 7-100490017-C-G | c.1491G>C | p.T497= | Synonymous | 3/5 | - | 1 |
| 7-100490017-C-T | c.1491G>A | p.T497= | Synonymous | 3/5 | - | 2 |
| 7-100490018-G-T | c.1490C>A | p.T497K | Missense | 3/5 | - | 1 |
| 7-100490024-T-A | c.1484A>T | p.N495I | Missense | 3/5 | - | 1 |
| 7-100490025-T-TA | c.1482_1483insT | p.N495* | Nonsense | 3/5 | - | 1 |
| 7-100490027-C-T | c.1481G>A | p.R494Q | Missense | 3/5 | - | 6 |
| 7-100490028-G-A | c.1480C>T | p.R494* | UnclassifiedSNV | 3/5 | - | 2 |
| 7-100490029-GAGA-G | c.1477_1479del | p.S493del | InFrameDeletion | 3/5 | - | 1 |
| 7-100490030-G-A | c.1478C>T | p.S493F | Missense | 3/5 | - | 1 |
| 7-100490034-G-C | c.1474C>G | p.P492A | Missense | 3/5 | - | 1 |
| 7-100490031-A-AG | c.1476dup | p.S493Lfs*30 | Frameshift | 3/5 | - | 1 |
| 7-100490037-C-A | c.1471G>T | p.D491Y | Missense | 3/5 | - | 1 |
| 7-100490037-C-T | c.1471G>A | p.D491N | Missense | 3/5 | - | 2 |
| 7-100490038-CAG-AAA | c.1468_1470delinsTTT | p.L490F | Missense | 3/5 | - | 2 |
| 7-100490047-C-G | c.1461G>C | p.G487= | Synonymous | 3/5 | - | 1 |
| 7-100490058-A-G | c.1450T>C | p.F484L | Missense | 3/5 | - | 1 |
| 7-100490062-G-A | c.1446C>T | p.I482= | Synonymous | 3/5 | - | 1 |
| 7-100490062-G-T | c.1446C>A | p.I482= | Synonymous | 3/5 | - | 1 |
| 7-100490064-T-C | c.1444A>G | p.I482V | Missense | 3/5 | - | 2 |
| 7-100490067-C-T | c.1441G>A | p.E481K | Missense | 3/5 | - | 8 |
| 7-100490071-GC-CT | c.1436_1437delinsAG | p.G479E | Missense | 3/5 | - | 1 |
| 7-100490074-G-A | c.1434C>T | p.H478= | Synonymous | 3/5 | - | 3 |
| 7-100490074-G-C | c.1434C>G | p.H478Q | Missense | 3/5 | - | 1 |
| 7-100490074-G-T | c.1434C>A | p.H478Q | Missense | 3/5 | - | 2 |
| 7-100490077-G-A | c.1431C>T | p.P477= | Synonymous | 3/5 | - | 14 |
| 7-100490079-G-A | c.1429C>T | p.P477S | Missense | 3/5 | - | 2 |
| 7-100490079-G-C | c.1429C>G | p.P477A | Missense | 3/5 | - | 1 |
| 7-100490086-C-A | c.1422G>T | p.M474I | Missense | 3/5 | - | 1 |
| 7-100490086-C-G | c.1422G>C | p.M474I | Missense | 3/5 | - | 1 |
| 7-100490086-C-T | c.1422G>A | p.M474I | Missense | 3/5 | - | 2 |
| 7-100490102-G-T | c.1406C>A | p.S469Y | Missense | 3/5 | - | 1 |
| 7-100490104-G-A | c.1404C>T | p.L468= | Synonymous | 3/5 | - | 1 |
| 7-100490104-G-C | c.1404C>G | p.L468= | Synonymous | 3/5 | - | 1 |
| 7-100490104-G-T | c.1404C>A | p.L468= | Synonymous | 3/5 | - | 1 |
| 7-100490107-C-A | c.1401G>T | p.T467= | Synonymous | 3/5 | - | 3 |
| 7-100490107-C-G | c.1401G>C | p.T467= | Synonymous | 3/5 | - | 3 |
| 7-100490107-C-T | c.1401G>A | p.T467= | Synonymous | 3/5 | - | 4 |
| 7-100490108-G-A | c.1400C>T | p.T467M | Missense | 3/5 | - | 2 |
| 7-100490109-T-A | c.1399A>T | p.T467S | Missense | 3/5 | - | 1 |
| 7-100490110-G-A | c.1398C>T | p.S466= | Synonymous | 3/5 | - | 1 |
| 7-100490110-G-C | c.1398C>G | p.S466= | Synonymous | 3/5 | - | 1 |
| 7-100490110-G-T | c.1398C>A | p.S466= | Synonymous | 3/5 | - | 2 |
| 7-100490111-G-A | c.1397C>T | p.S466F | Missense | 3/5 | - | 2 |
| 7-100490117-C-A | c.1391G>T | p.R464L | Missense | 3/5 | - | 1 |
| 7-100490117-C-T | c.1391G>A | p.R464H | Missense | 3/5 | - | 3 |
| 7-100490119-G-A | c.1389C>T | p.H463= | Synonymous | 3/5 | - | 1 |
| 7-100490128-G-C | c.1380C>G | p.V460= | Synonymous | 3/5 | - | 1 |
| 7-100490130-C-T | c.1378G>A | p.V460I | Missense | 3/5 | - | 2 |
| 7-100490131-G-A | c.1377C>T | p.Y459= | Synonymous | 3/5 | - | 1 |
| 7-100490135-G-T | c.1373C>A | p.A458D | Missense | 3/5 | - | 1 |
| 7-100490136-C-T | c.1372G>A | p.A458T | Missense | 3/5 | - | 3 |
| 7-100490137-G-A | c.1371C>T | p.Y457= | Synonymous | 3/5 | - | 3 |
| 7-100490137-G-T | c.1371C>A | p.Y457* | Nonsense | 3/5 | - | 1 |
| 7-100490140-G-A | c.1368C>T | p.V456= | Synonymous | 3/5 | - | 1 |
| 7-100490144-C-T | c.1364G>A | p.R455Q | Missense | 3/5 | - | 1 |
| 7-100490157-C-T | c.1351G>A | p.A451T | Missense | 3/5 | - | 1 |
| 7-100490160-C-A | c.1348G>T | p.A450S | Missense | 3/5 | - | 1 |
| 7-100490160-C-T | c.1348G>A | p.A450T | Missense | 3/5 | - | 1 |
| 7-100490171-G-A | c.1337C>T | p.A446V | Missense | 3/5 | - | 1 |
| 7-100490171-G-C | c.1337C>G | p.A446G | Missense | 3/5 | - | 1 |
| 7-100490174-A-G | c.1334T>C | p.L445P | Missense | 3/5 | - | 1 |
| 7-100490176-C-A | c.1332G>T | p.Q444H | Missense | 3/5 | - | 1 |
| 7-100490176-C-G | c.1332G>C | p.Q444H | Missense | 3/5 | - | 1 |
| 7-100490184-C-T | c.1324G>A | p.V442M | Missense | 3/5 | - | 5 |
| 7-100490185-G-A | c.1323C>T | p.P441= | Synonymous | 3/5 | - | 1 |
| 7-100490185-G-C | c.1323C>G | p.P441= | Synonymous | 3/5 | - | 1 |
| 7-100490185-G-T | c.1323C>A | p.P441= | Synonymous | 3/5 | - | 1 |
| 7-100490187-G-A | c.1321C>T | p.P441S | Missense | 3/5 | - | 1 |
| 7-100490189-C-T | c.1319G>A | p.C440Y | Missense | 3/5 | - | 1 |
| 7-100490193-C-A | c.1315G>T | p.V439L | Missense | 3/5 | - | 1 |
| 7-100490193-C-G | c.1315G>C | p.V439L | Missense | 3/5 | - | 1 |
| 7-100490193-C-T | c.1315G>A | p.V439M | Missense | 3/5 | - | 1 |
| 7-100490194-G-A | c.1314C>T | p.V438= | Synonymous | 3/5 | - | 2 |
| 7-100490194-G-C | c.1314C>G | p.V438= | Synonymous | 3/5 | - | 1 |
| 7-100490194-G-T | c.1314C>A | p.V438= | Synonymous | 3/5 | - | 1 |
| 7-100490199-T-C | c.1309A>G | p.N437D | Missense | 3/5 | - | 1 |
| 7-100490200-G-C | c.1308C>G | p.H436Q | Missense | 3/5 | - | 1 |
| 7-100490200-G-T | c.1308C>A | p.H436Q | Missense | 3/5 | - | 1 |
| 7-100490202-G-A | c.1306C>T | p.H436Y | Missense | 3/5 | - | 1 |
| 7-100490205-C-T | c.1303G>A | p.D435N | Missense | 3/5 | - | 1 |
| 7-100490206-G-A | c.1302C>T | p.G434= | Synonymous | 3/5 | - | 2 |
| 7-100490206-G-C | c.1302C>G | p.G434= | Synonymous | 3/5 | - | 1 |
| 7-100490206-G-T | c.1302C>A | p.G434= | Synonymous | 3/5 | - | 1 |
| 7-100490217-C-T | c.1291G>A | p.D431N | Missense | 3/5 | - | 2 |
| 7-100490218-G-C | c.1290C>G | p.S430R | Missense | 3/5 | - | 2 |
| 7-100490218-G-T | c.1290C>A | p.S430R | Missense | 3/5 | - | 2 |
| 7-100490220-T-G | c.1288A>C | p.S430R | Missense | 3/5 | - | 2 |
| 7-100490224-G-A | c.1284C>T | p.A428= | Synonymous | 3/5 | - | 1 |
| 7-100490224-G-C | c.1284C>G | p.A428= | Synonymous | 3/5 | - | 1 |
| 7-100490224-G-T | c.1284C>A | p.A428= | Synonymous | 3/5 | - | 1 |
| 7-100490230-CCT-ATG | c.1276_1278delinsCAT | p.R426H | Missense | 3/5 | - | 1 |
| 7-100490230-C-T | c.1278G>A | p.R426= | Synonymous | 3/5 | - | 1 |
| 7-100490232-T-G | c.1276A>C | p.R426= | Synonymous | 3/5 | - | 1 |
| 7-100490231-C-G | c.1277G>C | p.R426T | Missense | 3/5 | - | 1 |
| 7-100490233-C-A | c.1275G>T | p.L425= | Synonymous | 3/5 | - | 2 |
| 7-100490233-C-G | c.1275G>C | p.L425= | Synonymous | 3/5 | - | 2 |
| 7-100490233-C-T | c.1275G>A | p.L425= | Synonymous | 3/5 | - | 3 |
| 7-100490235-G-A | c.1273C>T | p.L425= | Synonymous | 3/5 | - | 2 |
| 7-100490238-G-A | c.1270C>T | p.R424C | Missense | 3/5 | - | 1 |
| 7-100490241-C-T | c.1267G>A | p.A423T | Missense | 3/5 | - | 1 |
| 7-100490242-C-A | c.1266G>T | p.P422= | Synonymous | 3/5 | - | 1 |
| 7-100490242-C-G | c.1266G>C | p.P422= | Synonymous | 3/5 | - | 1 |
| 7-100490242-C-T | c.1266G>A | p.P422= | Synonymous | 3/5 | - | 5 |
| 7-100490251-G-A | c.1257C>T | p.P419= | Synonymous | 3/5 | - | 1 |
| 7-100490259-G-A | c.1249C>T | p.L417= | Synonymous | 3/5 | - | 1 |
| 7-100490260-C-T | c.1248G>A | p.W416* | Nonsense | 3/5 | - | 1 |
| 7-100490261-C-T | c.1247G>A | p.W416* | Nonsense | 3/5 | - | 1 |
| 7-100490265-C-T | c.1243G>A | p.D415N | UnclassifiedSNV | 3/5 | - | 3 |
| 7-100490280-C-G | c.1228G>C | p.V410L | Missense | 3/5 | - | 1 |
| 7-100490290-G-A | c.1218C>T | p.A406= | Synonymous | 3/5 | - | 1 |
| 7-100490290-G-C | c.1218C>G | p.A406= | Synonymous | 3/5 | - | 1 |
| 7-100490290-G-T | c.1218C>A | p.A406= | Synonymous | 3/5 | - | 1 |
| 7-100490292-C-T | c.1216G>A | p.A406T | Missense | 3/5 | - | 2 |
| 7-100490296-C-A | c.1212G>T | p.L404= | Synonymous | 3/5 | - | 1 |
| 7-100490296-C-G | c.1212G>C | p.L404= | Synonymous | 3/5 | - | 1 |
| 7-100490296-C-T | c.1212G>A | p.L404= | Synonymous | 3/5 | - | 1 |
| 7-100490298-G-A | c.1210C>T | p.L404= | Synonymous | 3/5 | - | 1 |
| 7-100490298-G-C | c.1210C>G | p.L404V | Missense | 3/5 | - | 1 |
| 7-100490301-C-T | c.1207G>A | p.D403N | Missense | 3/5 | - | 1 |
| 7-100490303-CT-AG | c.1204_1205inv | p.S402L | Missense | 3/5 | - | 1 |
| 7-100490303-CT-GG | c.1204_1205delinsCC | p.S402P | Missense | 3/5 | - | 1 |
| 7-100490319-C-G | c.1189G>C | p.G397R | Missense | 3/5 | - | 1 |
| 7-100490319-C-T | c.1189G>A | p.G397R | Missense | 3/5 | - | 1 |
| 7-100490322-C-A | c.1186G>T | p.V396F | Missense | 3/5 | - | 1 |
| 7-100490325-G-A | c.1183C>T | p.R395W | Missense | 3/5 | - | 1 |
| 7-100490331-C-G | c.1177G>C | p.G393R | Missense | 3/5 | - | 1 |
| 7-100490331-C-T | c.1177G>A | p.G393R | Missense | 3/5 | - | 1 |
| 7-100490335-C-G | c.1173G>C | p.L391= | Synonymous | 3/5 | - | 1 |
| 7-100490343-C-T | c.1165G>A | p.E389K | Missense | 3/5 | - | 2 |
| 7-100490348-C-T | c.1160G>A | p.R387Q | Missense | 3/5 | - | 1 |
| 7-100490353-G-A | c.1155C>T | p.I385= | Synonymous | 3/5 | - | 1 |
| 7-100490354-A-G | c.1154T>C | p.I385T | Missense | 3/5 | - | 1 |
| 7-100490363-T-G | c.1145A>C | p.E382A | Missense | 3/5 | - | 1 |
| 7-100490364-C-T | c.1144G>A | p.E382K | Missense | 3/5 | - | 1 |
| 7-100490366-T-A | c.1142A>T | p.N381I | Missense | 3/5 | - | 1 |
| 7-100490364-CGTT-C | c.1141_1143del | p.N381del | InFrameDeletion | 3/5 | - | 1 |
| 7-100490370-C-A | c.1138G>T | p.D380Y | Missense | 3/5 | - | 1 |
| 7-100490370-C-CTTA | c.1137_1138insTAA | p.K379_D380ins* | InFrameInsertion | 3/5 | - | 1 |
| 7-100490375-C-G | c.1133G>C | p.S378T | Missense | 3/5 | - | 1 |
| 7-100490380-G-A | c.1128C>T | p.G376G | UnclassifiedSNV | 3/5 | - | 2 |
| 7-100490380-G-C | c.1128C>G | p.G376= | Synonymous | 3/5 | - | 1 |
| 7-100490380-G-T | c.1128C>A | p.G376= | Synonymous | 3/5 | - | 1 |
| 7-100490384-G-A | c.1124C>T | p.P375L | Missense | 3/5 | - | 1 |
| 7-100490387-G-A | c.1121C>T | p.A374V | Missense | 3/5 | - | 1 |
| 7-100490390-C-A | c.1118G>T | p.G373V | Missense | 3/5 | - | 1 |
| 7-100490391-C-G | c.1117G>C | p.G373R | Missense | 3/5 | - | 2 |
| 7-100490391-C-T | c.1117G>A | p.G373R | Missense | 3/5 | - | 4 |
| 7-100490393-T-C | c.1115A>G | p.Y372C | Missense | 3/5 | - | 1 |
| 7-100490407-C-A | c.1101G>T | p.S367= | Synonymous | 3/5 | - | 2 |
| 7-100490407-C-G | c.1101G>C | p.S367= | Synonymous | 3/5 | - | 1 |
| 7-100490407-C-T | c.1101G>A | p.S367= | Synonymous | 3/5 | - | 1 |
| 7-100490408-G-A | c.1100C>T | p.S367L | Missense | 3/5 | - | 1 |
| 7-100490411-C-T | c.1097G>A | p.G366D | Missense | 3/5 | - | 2 |
| 7-100490412-C-T | c.1096G>A | p.G366S | Missense | 3/5 | - | 1 |
| 7-100490416-A-G | c.1092T>C | p.D364= | Synonymous | 3/5 | - | 1 |
| 7-100490418-C-T | c.1090G>A | p.D364N | Missense | 3/5 | - | 1 |
| 7-100490419-C-T | c.1089G>A | p.K363= | Synonymous | 3/5 | - | 1 |
| 7-100490427-C-A | c.1081G>T | p.V361L | Missense | 3/5 | - | 1 |
| 7-100490427-C-T | c.1081G>A | p.V361M | Missense | 3/5 | - | 1 |
| 7-100490435-A-T | c.1073T>A | p.L358Q | Missense | 3/5 | - | 1 |
| 7-100490439-C-G | c.1069G>C | p.V357L | Missense | 3/5 | - | 1 |
| 7-100490730-G-T | c.1068+56C>A | - | IntronicSNV | - | 2/4 | 1 |
| 7-100490765-C-G | c.1068+21G>C | - | IntronicSNV | - | 2/4 | 1 |
| 7-100490765-C-T | c.1068+21G>A | - | IntronicSNV | - | 2/4 | 1 |
| 7-100490789-C-T | c.1065G>A | p.L355= | Synonymous | 2/5 | - | 1 |
| 7-100490790-A-G | c.1064T>C | p.L355P | Missense | 2/5 | - | 3 |
| 7-100490792-G-A | c.1062C>T | p.G354= | Synonymous | 2/5 | - | 1 |
| 7-100490792-G-C | c.1062C>G | p.G354= | Synonymous | 2/5 | - | 1 |
| 7-100490792-G-T | c.1062C>A | p.G354= | Synonymous | 2/5 | - | 1 |
| 7-100490794-C-T | c.1060G>A | p.G354S | Missense | 2/5 | - | 3 |
| 7-100490795-G-A | c.1059C>T | p.H353= | Synonymous | 2/5 | - | 1 |
| 7-100490797-G-T | c.1057C>A | p.H353N | Missense | 2/5 | - | 30 |
| 7-100490804-TC-GT | c.1049_1050delinsAC | p.G350D | Missense | 2/5 | - | 1 |
| 7-100490805-C-T | c.1049G>A | p.G350E | Missense | 2/5 | - | 1 |
| 7-100490808-G-A | c.1046C>T | p.A349V | Missense | 2/5 | - | 1 |
| 7-100490809-C-G | c.1045G>C | p.A349P | Missense | 2/5 | - | 1 |
| 7-100490809-C-T | c.1045G>A | p.A349T | Missense | 2/5 | - | 1 |
| 7-100490810-G-A | c.1044C>T | p.N348= | Synonymous | 2/5 | - | 1 |
| 7-100490818-G-T | c.1036C>A | p.L346I | Missense | 2/5 | - | 2 |
| 7-100490822-C-T | c.1032G>A | p.E344= | Synonymous | 2/5 | - | 1 |
| 7-100490824-C-G | c.1030G>C | p.E344Q | Missense | 2/5 | - | 1 |
| 7-100490826-G-A | c.1028C>T | p.P343L | Missense | 2/5 | - | 1 |
| 7-100490829-G-A | c.1025C>T | p.T342I | Missense | 2/5 | - | 1 |
| 7-100490831-G-C | c.1023C>G | p.D341E | Missense | 2/5 | - | 2 |
| 7-100490831-G-T | c.1023C>A | p.D341E | Missense | 2/5 | - | 4 |
| 7-100490835-C-T | c.1019G>A | p.S340N | Missense | 2/5 | - | 1 |
| 7-100490837-G-A | c.1017C>T | p.L339= | Synonymous | 2/5 | - | 1 |
| 7-100490837-G-C | c.1017C>G | p.L339= | Synonymous | 2/5 | - | 1 |
| 7-100490837-G-T | c.1017C>A | p.L339= | Synonymous | 2/5 | - | 1 |
| 7-100490836-TGA-T | c.1016_1017del | p.L339Qfs*2 | Frameshift | 2/5 | - | 1 |
| 7-100490838-A-G | c.1016T>C | p.L339P | Missense | 2/5 | - | 1 |
| 7-100490845-C-G | c.1009G>C | p.D337H | Missense | 2/5 | - | 1 |
| 7-100490845-C-T | c.1009G>A | p.D337N | Missense | 2/5 | - | 1 |
| 7-100490847-C-T | c.1007G>A | p.G336E | Missense | 2/5 | - | 1 |
| 7-100490851-C-T | c.1003G>A | p.D335N | Missense | 2/5 | - | 1 |
| 7-100490856-A-T | c.998T>A | p.V333E | Missense | 2/5 | - | 2 |
| 7-100490857-C-T | c.997G>A | p.V333M | Missense | 2/5 | - | 3 |
| 7-100490859-G-T | c.995C>A | p.P332H | Missense | 2/5 | - | 2 |
| 7-100490860-G-A | c.994C>T | p.P332S | Missense | 2/5 | - | 1 |
| 7-100490861-C-A | c.993G>T | p.V331= | Synonymous | 2/5 | - | 1 |
| 7-100490861-C-G | c.993G>C | p.V331= | Synonymous | 2/5 | - | 1 |
| 7-100490861-C-T | c.993G>A | p.V331= | Synonymous | 2/5 | - | 1 |
| 7-100490863-C-T | c.991G>A | p.V331M | Missense | 2/5 | - | 1 |
| 7-100490864-G-A | c.990C>T | p.F330= | Synonymous | 2/5 | - | 4 |
| 7-100490868-G-A | c.986C>T | p.S329F | Missense | 2/5 | - | 1 |
| 7-100490873-C-A | c.981G>T | p.R327= | Synonymous | 2/5 | - | 2 |
| 7-100490874-C-T | c.980G>A | p.R327Q | Missense | 2/5 | - | 1 |
| 7-100490873-C-G | c.981G>C | p.R327= | Synonymous | 2/5 | - | 1 |
| 7-100490873-C-T | c.981G>A | p.R327= | Synonymous | 2/5 | - | 1 |
| 7-100490875-G-A | c.979C>T | p.R327W | Missense | 2/5 | - | 1 |
| 7-100490875-G-T | c.979C>A | p.R327= | Synonymous | 2/5 | - | 1 |
| 7-100490876-G-A | c.978C>T | p.F326= | Synonymous | 2/5 | - | 1 |
| 7-100490881-C-T | c.973G>A | p.V325I | Missense | 2/5 | - | 1 |
| 7-100490882-G-A | c.972C>T | p.S324= | Synonymous | 2/5 | - | 1 |
| 7-100490887-C-A | c.967G>T | p.E323* | Nonsense | 2/5 | - | 1 |
| 7-100490893-G-A | c.961C>T | p.P321S | Missense | 2/5 | - | 2 |
| 7-100490899-C-T | c.955G>A | p.V319M | Missense | 2/5 | - | 2 |
| 7-100490900-G-A | c.954C>T | p.H318= | Synonymous | 2/5 | - | 2 |
| 7-100490900-G-C | c.954C>G | p.H318Q | Missense | 2/5 | - | 1 |
| 7-100490902-G-A | c.952C>T | p.H318Y | Missense | 2/5 | - | 1 |
| 7-100490909-G-A | c.945C>T | p.H315= | Synonymous | 2/5 | - | 4 |
| 7-100490920-G-A | c.934C>T | p.L312= | Synonymous | 2/5 | - | 2 |
| 7-100490925-T-C | c.929A>G | p.Q310R | Missense | 2/5 | - | 1 |
| 7-100490926-G-C | c.928C>G | p.Q310E | Missense | 2/5 | - | 1 |
| 7-100490927-C-A | c.927G>T | p.A309= | Synonymous | 2/5 | - | 1 |
| 7-100490927-C-G | c.927G>C | p.A309= | Synonymous | 2/5 | - | 1 |
| 7-100490927-C-T | c.927G>A | p.A309= | Synonymous | 2/5 | - | 1 |
| 7-100490928-G-A | c.926C>T | p.A309V | Missense | 2/5 | - | 2 |
| 7-100490928-G-C | c.926C>G | p.A309G | Missense | 2/5 | - | 2 |
| 7-100490934-C-T | c.920G>A | p.R307Q | Missense | 2/5 | - | 3 |
| 7-100490935-G-A | c.919C>T | p.R307* | Nonsense | 2/5 | - | 3 |
| 7-100490940-C-T | c.914G>A | p.R305Q | Missense | 2/5 | - | 1 |
| 7-100490941-G-A | c.913C>T | p.R305W | Missense | 2/5 | - | 4 |
| 7-100490942-A-G | c.912T>C | p.L304= | Synonymous | 2/5 | - | 1 |
| 7-100490943-A-T | c.911T>A | p.L304H | Missense | 2/5 | - | 1 |
| 7-100490954-C-A | c.900G>T | p.L300= | Synonymous | 2/5 | - | 1 |
| 7-100490954-C-G | c.900G>C | p.L300= | Synonymous | 2/5 | - | 1 |
| 7-100490954-C-T | c.900G>A | p.L300= | Synonymous | 2/5 | - | 1 |
| 7-100490956-G-A | c.898C>T | p.L300= | Synonymous | 2/5 | - | 1 |
| 7-100490962-T-A | c.892A>T | p.T298S | Missense | 2/5 | - | 1 |
| 7-100490964-T-A | c.890A>T | p.D297V | Missense | 2/5 | - | 1 |
| 7-100490964-T-C | c.890A>G | p.D297G | Missense | 2/5 | - | 1 |
| 7-100490966-A-G | c.888T>C | p.N296= | Synonymous | 2/5 | - | 1 |
| 7-100490969-C-T | c.885G>A | p.G295= | Synonymous | 2/5 | - | 1 |
| 7-100490974-C-G | c.880G>C | p.G294R | Missense | 2/5 | - | 1 |
| 7-100490978-GC-CT | c.875_876delinsAG | p.G292E | Missense | 2/5 | - | 1 |
| 7-100490981-G-A | c.873C>T | p.G291= | Synonymous | 2/5 | - | 1 |
| 7-100490986-G-C | c.868C>G | p.P290A | Missense | 2/5 | - | 1 |
| 7-100490987-A-C | c.867T>G | p.P289= | Synonymous | 2/5 | - | 1 |
| 7-100490994-C-A | c.860G>T | p.G287V | Missense | 2/5 | - | 1 |
| 7-100490995-C-T | c.859G>A | p.G287S | Missense | 2/5 | - | 1 |
| 7-100490996-C-A | c.858G>T | p.V286= | Synonymous | 2/5 | - | 1 |
| 7-100490996-C-G | c.858G>C | p.V286= | Synonymous | 2/5 | - | 1 |
| 7-100490996-C-T | c.858G>A | p.V286= | Synonymous | 2/5 | - | 1 |
| 7-100491003-T-C | c.851A>G | p.H284R | Missense | 2/5 | - | 1 |
| 7-100491004-G-A | c.850C>T | p.H284Y | Missense | 2/5 | - | 1 |
| 7-100491014-C-A | c.840G>T | p.T280= | Synonymous | 2/5 | - | 1 |
| 7-100491014-C-G | c.840G>C | p.T280= | Synonymous | 2/5 | - | 1 |
| 7-100491014-C-T | c.840G>A | p.T280= | Synonymous | 2/5 | - | 1 |
| 7-100491015-G-A | c.839C>T | p.T280M | Missense | 2/5 | - | 2 |
| 7-100491016-T-C | c.838A>G | p.T280A | Missense | 2/5 | - | 1 |
| 7-100491023-GCG-TCA | c.829_831delinsTGA | p.R277* | Nonsense | 2/5 | - | 1 |
| 7-100491024-C-A | c.830G>T | p.R277L | Missense | 2/5 | - | 2 |
| 7-100491025-G-A | c.829C>T | p.R277C | Missense | 2/5 | - | 1 |
| 7-100491028-G-A | c.826C>T | p.R276C | Missense | 2/5 | - | 1 |
| 7-100491029-G-A | c.825C>T | p.A275= | Synonymous | 2/5 | - | 1 |
| 7-100491031-C-T | c.823G>A | p.A275T | Missense | 2/5 | - | 1 |
| 7-100491034-C-T | c.820G>A | p.E274K | Missense | 2/5 | - | 4 |
| 7-100491037-C-G | c.817G>C | p.G273R | Missense | 2/5 | - | 2 |
| 7-100491037-C-T | c.817G>A | p.G273R | Missense | 2/5 | - | 2 |
| 7-100491044-C-A | c.810G>T | p.V270= | Synonymous | 2/5 | - | 1 |
| 7-100491044-C-G | c.810G>C | p.V270= | Synonymous | 2/5 | - | 1 |
| 7-100491044-C-T | c.810G>A | p.V270= | Synonymous | 2/5 | - | 1 |
| 7-100491047-C-A | c.807G>T | p.T269= | Synonymous | 2/5 | - | 1 |
| 7-100491047-C-G | c.807G>C | p.T269= | Synonymous | 2/5 | - | 1 |
| 7-100491047-C-T | c.807G>A | p.T269= | Synonymous | 2/5 | - | 3 |
| 7-100491048-G-A | c.806C>T | p.T269M | Missense | 2/5 | - | 5 |
| 7-100491060-C-A | c.794G>T | p.G265V | Missense | 2/5 | - | 1 |
| 7-100491060-C-T | c.794G>A | p.G265E | Missense | 2/5 | - | 2 |
| 7-100491062-A-G | c.792T>C | p.N264= | Synonymous | 2/5 | - | 1 |
| 7-100491063-T-A | c.791A>T | p.N264I | Missense | 2/5 | - | 1 |
| 7-100491066-G-A | c.788C>T | p.P263L | Missense | 2/5 | - | 3 |
| 7-100491073-C-T | c.781G>A | p.G261S | Missense | 2/5 | - | 1 |
| 7-100491074-G-A | c.780C>T | p.S260= | Synonymous | 2/5 | - | 3 |
| 7-100491081-A-G | c.773T>C | p.L258P | Missense | 2/5 | - | 1 |
| 7-100491082-G-T | c.772C>A | p.L258M | Missense | 2/5 | - | 4 |
| 7-100491085-C-T | c.769G>A | p.V257M | Missense | 2/5 | - | 1 |
| 7-100491090-C-A | c.764G>T | p.R255M | Missense | 2/5 | - | 1 |
| 7-100491094-G-T | c.760C>A | p.H254N | Missense | 2/5 | - | 1 |
| 7-100491100-G-A | c.754C>T | p.L252= | Synonymous | 2/5 | - | 1 |
| 7-100491104-CC-AT | c.749_750delinsAT | p.R250H | Missense | 2/5 | - | 1 |
| 7-100491105-C-T | c.749G>A | p.R250Q | Missense | 2/5 | - | 4 |
| 7-100491106-G-A | c.748C>T | p.R250W | Missense | 2/5 | - | 2 |
| 7-100491111-G-T | c.743C>A | p.P248H | Missense | 2/5 | - | 1 |
| 7-100491112-G-A | c.742C>T | p.P248S | Missense | 2/5 | - | 1 |
| 7-100491113-C-A | c.741G>T | p.P247= | Synonymous | 2/5 | - | 1 |
| 7-100491114-G-A | c.740C>T | p.P247L | Missense | 2/5 | - | 5 |
| 7-100491137-C-A | c.717G>T | p.S239= | Synonymous | 2/5 | - | 1 |
| 7-100491137-C-G | c.717G>C | p.S239= | Synonymous | 2/5 | - | 1 |
| 7-100491137-C-T | c.717G>A | p.S239= | Synonymous | 2/5 | - | 1 |
| 7-100491142-C-T | c.712G>A | p.A238T | Missense | 2/5 | - | 1 |
| 7-100491143-G-A | c.711C>T | p.A237= | Synonymous | 2/5 | - | 1 |
| 7-100491143-G-C | c.711C>G | p.A237= | Synonymous | 2/5 | - | 1 |
| 7-100491143-G-T | c.711C>A | p.A237= | Synonymous | 2/5 | - | 1 |
| 7-100491144-G-A | c.710C>T | p.A237V | Missense | 2/5 | - | 1 |
| 7-100491145-C-T | c.709G>A | p.A237T | Missense | 2/5 | - | 1 |
| 7-100491148-C-G | c.706G>C | p.G236R | Missense | 2/5 | - | 2 |
| 7-100491148-C-T | c.706G>A | p.G236R | Missense | 2/5 | - | 2 |
| 7-100491144-G-GCTCCCCGCT | c.709_710insAGCGGGGAG | p.G236_A237insERG | InFrameInsertion | 2/5 | - | 1 |
| 7-100491149-C-A | c.705G>T | p.A235= | Synonymous | 2/5 | - | 1 |
| 7-100491149-C-G | c.705G>C | p.A235= | Synonymous | 2/5 | - | 1 |
| 7-100491149-C-T | c.705G>A | p.A235= | Synonymous | 2/5 | - | 1 |
| 7-100491150-G-T | c.704C>A | p.A235E | Missense | 2/5 | - | 1 |
| 7-100491151-C-A | c.703G>T | p.A235S | Missense | 2/5 | - | 1 |
| 7-100491151-C-T | c.703G>A | p.A235T | Missense | 2/5 | - | 3 |
| 7-100491153-C-CCTCCCCA | c.700_701insTGGGGAG | p.S234Mfs*66 | Frameshift | 2/5 | - | 1 |
| 7-100491157-C-T | c.697G>A | p.E233K | Missense | 2/5 | - | 1 |
| 7-100491160-C-A | c.694G>T | p.G232W | Missense | 2/5 | - | 1 |
| 7-100491167-C-A | c.687G>T | p.T229= | Synonymous | 2/5 | - | 2 |
| 7-100491167-C-G | c.687G>C | p.T229= | Synonymous | 2/5 | - | 2 |
| 7-100491167-C-T | c.687G>A | p.T229= | Synonymous | 2/5 | - | 4 |
| 7-100491168-G-A | c.686C>T | p.T229M | Missense | 2/5 | - | 1 |
| 7-100491179-C-A | c.675G>T | p.P225= | Synonymous | 2/5 | - | 4 |
| 7-100491179-C-G | c.675G>C | p.P225= | Synonymous | 2/5 | - | 4 |
| 7-100491179-C-T | c.675G>A | p.P225= | Synonymous | 2/5 | - | 5 |
| 7-100491180-G-A | c.674C>T | p.P225L | Missense | 2/5 | - | 1 |
| 7-100491189-C-G | c.665G>C | p.G222A | Missense | 2/5 | - | 1 |
| 7-100491190-C-A | c.664G>T | p.G222W | Missense | 2/5 | - | 1 |
| 7-100491190-C-G | c.664G>C | p.G222R | Missense | 2/5 | - | 1 |
| 7-100491190-C-T | c.664G>A | p.G222R | Missense | 2/5 | - | 1 |
| 7-100491199-C-T | c.655G>A | p.A219T | Missense | 2/5 | - | 2 |
| 7-100491201-A-C | c.653T>G | p.V218G | Missense | 2/5 | - | 1 |
| 7-100491202-C-G | c.652G>C | p.V218L | Missense | 2/5 | - | 2 |
| 7-100491202-C-T | c.652G>A | p.V218M | Missense | 2/5 | - | 1 |
| 7-100491203-G-A | c.651C>T | p.N217= | Synonymous | 2/5 | - | 1 |
| 7-100491203-G-C | c.651C>G | p.N217K | Missense | 2/5 | - | 1 |
| 7-100491203-G-T | c.651C>A | p.N217K | Missense | 2/5 | - | 1 |
| 7-100491205-TCTC-T | c.646_648del | p.E216del | InFrameDeletion | 2/5 | - | 1 |
| 7-100491215-C-T | c.639G>A | p.W213* | Nonsense | 2/5 | - | 2 |
| 7-100491218-C-T | c.636G>A | p.Q212= | Synonymous | 2/5 | - | 1 |
| 7-100491224-GG-CT | c.629_630delinsAG | p.A210E | Missense | 2/5 | - | 1 |
| 7-100491225-G-A | c.629C>T | p.A210V | Missense | 2/5 | - | 2 |
| 7-100491230-C-T | c.624G>A | p.R208= | Synonymous | 2/5 | - | 1 |
| 7-100491231-CT-TG | c.622_623delinsCA | p.R208Q | Missense | 2/5 | - | 1 |
| 7-100491238-C-CA | c.615_616insT | p.D206* | Nonsense | 2/5 | - | 1 |
| 7-100491238-C-T | c.616G>A | p.D206N | Missense | 2/5 | - | 1 |
| 7-100491239-C-T | c.615G>A | p.L205= | Synonymous | 2/5 | - | 2 |
| 7-100491241-G-T | c.613C>A | p.L205M | Missense | 2/5 | - | 1 |
| 7-100491256-C-G | c.598G>C | p.G200R | Missense | 2/5 | - | 1 |
| 7-100491259-G-T | c.595C>A | p.P199T | Missense | 2/5 | - | 1 |
| 7-100491260-G-A | c.594C>T | p.A198= | Synonymous | 2/5 | - | 2 |
| 7-100491260-G-GA | c.593_594insT | p.N201Qfs*24 | Frameshift | 2/5 | - | 1 |
| 7-100491263-C-A | c.591G>T | p.E197D | Missense | 2/5 | - | 2 |
| 7-100491263-C-G | c.591G>C | p.E197D | Missense | 2/5 | - | 2 |
| 7-100491262-CCTCT-C | c.588_591del | p.E197Pfs*31 | Frameshift | 2/5 | - | 1 |
| 7-100491265-C-G | c.589G>C | p.E197Q | Missense | 2/5 | - | 3 |
| 7-100491267-C-T | c.587G>A | p.R196Q | Missense | 2/5 | - | 1 |
| 7-100491267-C-CGAGA | c.586_587insTCTC | p.R196Lfs*30 | Frameshift | 2/5 | - | 1 |
| 7-100491268-G-A | c.586C>T | p.R196* | Nonsense | 2/5 | - | 3 |
| 7-100491271-CT-C | c.583del | p.S195Afs*34 | Frameshift | 2/5 | - | 1 |
| 7-100491272-C-A | c.582G>T | p.G194= | Synonymous | 2/5 | - | 1 |
| 7-100491272-C-G | c.582G>C | p.G194= | Synonymous | 2/5 | - | 1 |
| 7-100491272-C-T | c.582G>A | p.G194= | Synonymous | 2/5 | - | 2 |
| 7-100491274-C-T | c.580G>A | p.G194R | Missense | 2/5 | - | 1 |
| 7-100491294-A-T | c.560T>A | p.F187Y | Missense | 2/5 | - | 1 |
| 7-100491298-C-T | c.556G>A | p.A186T | Missense | 2/5 | - | 2 |
| 7-100491305-CCG-ACA | c.547_549delinsTGT | p.R183C | Missense | 2/5 | - | 1 |
| 7-100491307-G-A | c.547C>T | p.R183W | Missense | 2/5 | - | 1 |
| 7-100491311-G-A | c.543C>T | p.N181= | Synonymous | 2/5 | - | 1 |
| 7-100491320-C-A | c.534G>T | p.V178= | Synonymous | 2/5 | - | 1 |
| 7-100491320-C-G | c.534G>C | p.V178= | Synonymous | 2/5 | - | 1 |
| 7-100491320-C-T | c.534G>A | p.V178= | Synonymous | 2/5 | - | 1 |
| 7-100491325-G-T | c.529C>A | p.L177M | Missense | 2/5 | - | 1 |
| 7-100491327-A-T | c.527T>A | p.V176E | Missense | 2/5 | - | 2 |
| 7-100491329-AG-CA | c.524_525delinsTG | p.T175M | Missense | 2/5 | - | 1 |
| 7-100491337-C-T | c.517G>A | p.E173K | Missense | 2/5 | - | 1 |
| 7-100491339-G-A | c.515C>T | p.A172V | Missense | 2/5 | - | 2 |
| 7-100491340-C-T | c.514G>A | p.A172T | Missense | 2/5 | - | 1 |
| 7-100491341-C-T | c.513G>A | p.Q171= | Synonymous | 2/5 | - | 1 |
| 7-100491350-G-A | c.504C>T | p.F168= | Synonymous | 2/5 | - | 1 |
| 7-100491355-G-A | c.499C>T | p.R167C | Missense | 2/5 | - | 2 |
| 7-100491357-C-A | c.497G>T | p.G166V | Missense | 2/5 | - | 1 |
| 7-100491361-C-A | c.493G>T | p.D165Y | Missense | 2/5 | - | 1 |
| 7-100491361-C-G | c.493G>C | p.D165H | Missense | 2/5 | - | 1 |
| 7-100491361-C-T | c.493G>A | p.D165N | Missense | 2/5 | - | 2 |
| 7-100491362-G-C | c.492C>G | p.Y164* | Nonsense | 2/5 | - | 1 |
| 7-100491362-G-T | c.492C>A | p.Y164* | Nonsense | 2/5 | - | 1 |
| 7-100491364-TA-T | c.490del | p.Y164Tfs*17 | Frameshift | 2/5 | - | 1 |
| 7-100491365-C-A | c.489G>T | p.V163= | Synonymous | 2/5 | - | 1 |
| 7-100491367-C-A | c.487G>T | p.V163L | Missense | 2/5 | - | 1 |
| 7-100491367-C-G | c.487G>C | p.V163L | Missense | 2/5 | - | 1 |
| 7-100491367-C-T | c.487G>A | p.V163M | Missense | 2/5 | - | 1 |
| 7-100491375-G-A | c.479C>T | p.S160F | Missense | 2/5 | - | 1 |
| 7-100491377-G-A | c.477C>T | p.S159= | Synonymous | 2/5 | - | 1 |
| 7-100491377-G-C | c.477C>G | p.S159= | Synonymous | 2/5 | - | 1 |
| 7-100491377-G-T | c.477C>A | p.S159= | Synonymous | 2/5 | - | 1 |
| 7-100491379-A-G | c.475T>C | p.S159P | Missense | 2/5 | - | 1 |
| 7-100491381-G-A | c.473C>T | p.A158V | Missense | 2/5 | - | 1 |
| 7-100491382-C-T | c.472G>A | p.A158T | Missense | 2/5 | - | 1 |
| 7-100491384-C-A | c.470G>T | p.G157V | Missense | 2/5 | - | 1 |
| 7-100491390-T-C | c.464A>G | p.Y155C | Missense | 2/5 | - | 1 |
| 7-100491395-G-A | c.459C>T | p.G153= | Synonymous | 2/5 | - | 1 |
| 7-100491398-AC-CT | c.455_456delinsAG | p.G152E | Missense | 2/5 | - | 1 |
| 7-100491403-C-G | c.451G>C | p.G151R | Missense | 2/5 | - | 1 |
| 7-100491403-C-T | c.451G>A | p.G151R | Missense | 2/5 | - | 4 |
| 7-100491406-A-C | c.448T>G | p.Y150D | Missense | 2/5 | - | 1 |
| 7-100491410-C-T | c.444G>A | p.W148* | Nonsense | 2/5 | - | 1 |
| 7-100491411-C-T | c.443G>A | p.W148* | Nonsense | 2/5 | - | 1 |
| 7-100491412-A-C | c.442T>G | p.W148G | Missense | 2/5 | - | 1 |
| 7-100491415-C-T | c.439G>A | p.V147I | Missense | 2/5 | - | 3 |
| 7-100491417-A-G | c.437T>C | p.L146P | Missense | 2/5 | - | 2 |
| 7-100491423-G-A | c.431C>T | p.P144L | Missense | 2/5 | - | 1 |
| 7-100491431-G-A | c.423C>T | p.S141= | Synonymous | 2/5 | - | 4 |
| 7-100491439-G-A | c.415C>T | p.P139S | Missense | 2/5 | - | 1 |
| 7-100491439-G-T | c.415C>A | p.P139T | Missense | 2/5 | - | 1 |
| 7-100491440-CC-AT | c.413_414delinsAT | p.R138H | Missense | 2/5 | - | 1 |
| 7-100491440-CCG-GCT | c.412_414delinsAGC | p.R138S | Missense | 2/5 | - | 1 |
| 7-100491441-C-A | c.413G>T | p.R138L | Missense | 2/5 | - | 6 |
| 7-100491441-CG-TT | c.412_413delinsAA | p.R138K | Missense | 2/5 | - | 1 |
| 7-100491441-C-T | c.413G>A | p.R138Q | Missense | 2/5 | - | 1 |
| 7-100491445-G-A | c.409C>T | p.P137S | Missense | 2/5 | - | 1 |
| 7-100491445-G-T | c.409C>A | p.P137T | Missense | 2/5 | - | 1 |
| 7-100491446-G-A | c.408C>T | p.Y136= | Synonymous | 2/5 | - | 1 |
| 7-100491450-G-C | c.404C>G | p.P135R | Missense | 2/5 | - | 1 |
| 7-100491451-G-A | c.403C>T | p.P135S | Missense | 2/5 | - | 6 |
| 7-100491451-G-C | c.403C>G | p.P135A | Missense | 2/5 | - | 11 |
| 7-100491454-T-A | c.400A>T | p.T134S | Missense | 2/5 | - | 1 |
| 7-100491460-C-A | c.394G>T | p.V132L | Missense | 2/5 | - | 1 |
| 7-100491460-C-G | c.394G>C | p.V132L | Missense | 2/5 | - | 1 |
| 7-100491461-G-A | c.393C>T | p.N131= | Synonymous | 2/5 | - | 4 |
| 7-100491466-G-C | c.388C>G | p.L130V | Missense | 2/5 | - | 1 |
| 7-100491467-G-C | c.387C>G | p.Y129* | Nonsense | 2/5 | - | 1 |
| 7-100491467-G-T | c.387C>A | p.Y129* | Nonsense | 2/5 | - | 1 |
| 7-100491476-G-A | c.378C>T | p.D126= | Synonymous | 2/5 | - | 1 |
| 7-100491479-C-A | c.375G>T | p.E125D | Missense | 2/5 | - | 3 |
| 7-100491479-C-G | c.375G>C | p.E125D | Missense | 2/5 | - | 3 |
| 7-100491481-C-G | c.373G>C | p.E125Q | Missense | 2/5 | - | 1 |
| 7-100491482-G-A | c.372C>T | p.S124= | Synonymous | 2/5 | - | 2 |
| 7-100491489-T-C | c.365A>G | p.E122G | Missense | 2/5 | - | 1 |
| 7-100491491-A-C | c.363T>G | p.R121= | Synonymous | 2/5 | - | 1 |
| 7-100491491-A-G | c.363T>C | p.R121= | Synonymous | 2/5 | - | 1 |
| 7-100491491-A-T | c.363T>A | p.R121= | Synonymous | 2/5 | - | 1 |
| 7-100491492-C-T | c.362G>A | p.R121H | Missense | 2/5 | - | 2 |
| 7-100491493-G-A | c.361C>T | p.R121C | Missense | 2/5 | - | 1 |
| 7-100491496-T-G | c.358A>C | p.N120H | Missense | 2/5 | - | 1 |
| 7-100491511-C-T | c.343G>A | p.E115K | Missense | 2/5 | - | 3 |
| 7-100491514-T-C | c.340A>G | p.T114A | Missense | 2/5 | - | 1 |
| 7-100491520-C-G | c.334G>C | p.E112Q | Missense | 2/5 | - | 1 |
| 7-100491520-C-T | c.334G>A | p.E112K | Missense | 2/5 | - | 1 |
| 7-100491531-T-C | c.323A>G | p.Y108C | Missense | 2/5 | - | 4 |
| 7-100491533-T-A | c.321A>T | p.L107= | Synonymous | 2/5 | - | 1 |
| 7-100491533-T-C | c.321A>G | p.L107= | Synonymous | 2/5 | - | 1 |
| 7-100491533-T-G | c.321A>C | p.L107= | Synonymous | 2/5 | - | 1 |
| 7-100491535-G-A | c.319C>T | p.L107= | Synonymous | 2/5 | - | 1 |
| 7-100491541-C-A | c.313G>T | p.D105Y | Missense | 2/5 | - | 3 |
| 7-100491541-C-T | c.313G>A | p.D105N | Missense | 2/5 | - | 1 |
| 7-100491548-T-C | c.306A>G | p.Q102= | Synonymous | 2/5 | - | 2 |
| 7-100491555-C-A | c.299G>T | p.C100F | Missense | 2/5 | - | 1 |
| 7-100491555-C-T | c.299G>A | p.C100Y | Missense | 2/5 | - | 1 |
| 7-100491560-A-G | c.294T>C | p.S98= | Synonymous | 2/5 | - | 2 |
| 7-100491561-C-G | c.293G>C | p.S98T | Missense | 2/5 | - | 1 |
| 7-100491563-C-T | c.291G>A | p.Q97= | Synonymous | 2/5 | - | 1 |
| 7-100491564-T-C | c.290A>G | p.Q97R | Missense | 2/5 | - | 1 |
| 7-100491565-G-A | c.289C>T | p.Q97* | Nonsense | 2/5 | - | 1 |
| 7-100491567-A-G | c.287T>C | p.F96S | Missense | 2/5 | - | 2 |
| 7-100491570-G-A | c.284C>T | p.T95I | Missense | 2/5 | - | 6 |
| 7-100491576-G-A | c.278C>T | p.A93V | Missense | 2/5 | - | 1 |
| 7-100491576-G-T | c.278C>A | p.A93D | Missense | 2/5 | - | 1 |
| 7-100491577-C-T | c.277G>A | p.A93T | Missense | 2/5 | - | 3 |
| 7-100491580-C-T | c.274G>A | p.D92N | Missense | 2/5 | - | 1 |
| 7-100491581-TAC-CAT | c.271_273delinsATG | p.V91M | Missense | 2/5 | - | 1 |
| 7-100491582-A-G | c.272T>C | p.V91A | Missense | 2/5 | - | 1 |
| 7-100491584-C-A | c.270G>T | p.V90= | Synonymous | 2/5 | - | 1 |
| 7-100491584-CAC-GAT | c.268_270delinsATC | p.V90I | Missense | 2/5 | - | 1 |
| 7-100491584-C-G | c.270G>C | p.V90= | Synonymous | 2/5 | - | 1 |
| 7-100491584-C-T | c.270G>A | p.V90= | Synonymous | 2/5 | - | 1 |
| 7-100491587-C-A | c.267G>T | p.G89= | Synonymous | 2/5 | - | 2 |
| 7-100491587-C-G | c.267G>C | p.G89= | Synonymous | 2/5 | - | 2 |
| 7-100491587-C-T | c.267G>A | p.G89= | Synonymous | 2/5 | - | 2 |
| 7-100491588-C-T | c.266G>A | p.G89E | Missense | 2/5 | - | 4 |
| 7-100491599-C-A | c.255G>T | p.Q85H | Missense | 2/5 | - | 1 |
| 7-100491599-C-G | c.255G>C | p.Q85H | Missense | 2/5 | - | 1 |
| 7-100491607-G-A | c.247C>T | p.P83S | Missense | 2/5 | - | 1 |
| 7-100491607-GGCTCCGGTGGCAGAAAGCGACGGGGTC-G | c.221_247del | p.G74_P83delinsA | MultiAAMissense | 2/5 | - | 1 |
| 7-100491611-C-A | c.243G>T | p.P81= | Synonymous | 2/5 | - | 2 |
| 7-100491611-C-G | c.243G>C | p.P81= | Synonymous | 2/5 | - | 1 |
| 7-100491611-C-T | c.243G>A | p.P81= | Synonymous | 2/5 | - | 3 |
| 7-100491612-G-A | c.242C>T | p.P81L | Missense | 2/5 | - | 5 |
| 7-100491616-G-A | c.238C>T | p.P80S | Missense | 2/5 | - | 5 |
| 7-100491624-C-T | c.230G>A | p.R77H | Missense | 2/5 | - | 2 |
| 7-100491625-G-A | c.229C>T | p.R77C | Missense | 2/5 | - | 2 |
| 7-100491626-A-C | c.228T>G | p.R76= | Synonymous | 2/5 | - | 1 |
| 7-100491626-A-G | c.228T>C | p.R76= | Synonymous | 2/5 | - | 1 |
| 7-100491626-A-T | c.228T>A | p.R76= | Synonymous | 2/5 | - | 1 |
| 7-100491627-C-T | c.227G>A | p.R76H | Missense | 2/5 | - | 3 |
| 7-100491628-G-C | c.226C>G | p.R76G | Missense | 2/5 | - | 1 |
| 7-100491629-G-T | c.225C>A | p.P75= | Synonymous | 2/5 | - | 1 |
| 7-100491633-C-T | c.221G>A | p.G74E | Missense | 2/5 | - | 1 |
| 7-100491638-G-A | c.216C>T | p.P72= | Synonymous | 2/5 | - | 2 |
| 7-100491639-G-A | c.215C>T | p.P72L | Missense | 2/5 | - | 1 |
| 7-100491643-G-A | c.211C>T | p.P71S | Missense | 2/5 | - | 1 |
| 7-100491645-T-A | c.209A>T | p.E70V | Missense | 2/5 | - | 2 |
| 7-100491647-C-A | c.207G>T | p.A69= | Synonymous | 2/5 | - | 1 |
| 7-100491647-C-G | c.207G>C | p.A69= | Synonymous | 2/5 | - | 1 |
| 7-100491647-C-T | c.207G>A | p.A69= | Synonymous | 2/5 | - | 1 |
| 7-100491648-G-A | c.206C>T | p.A69V | Missense | 2/5 | - | 4 |
| 7-100491651-A-T | c.203T>A | p.F68Y | Missense | 2/5 | - | 2 |
| 7-100491649-CA-C | c.204del | p.F68Lfs*24 | Frameshift | 2/5 | - | 1 |
| 7-100491653-G-A | c.201C>T | p.P67= | Synonymous | 2/5 | - | 1 |
| 7-100491653-G-C | c.201C>G | p.P67= | Synonymous | 2/5 | - | 1 |
| 7-100491653-G-T | c.201C>A | p.P67= | Synonymous | 2/5 | - | 1 |
| 7-100491655-G-A | c.199C>T | p.P67S | Missense | 2/5 | - | 3 |
| 7-100491660-C-T | c.194G>A | p.G65D | Missense | 2/5 | - | 1 |
| 7-100491665-G-A | c.189C>T | p.F63= | Synonymous | 2/5 | - | 2 |
| 7-100491666-A-G | c.188T>C | p.F63S | Missense | 2/5 | - | 1 |
| 7-100491669-G-A | c.185C>T | p.A62V | Missense | 2/5 | - | 1 |
| 7-100491672-GA-AG | c.181_182delinsCT | p.S61L | Missense | 2/5 | - | 1 |
| 7-100491681-C-T | c.173G>A | p.G58D | Missense | 2/5 | - | 1 |
| 7-100491685-C-A | c.169G>T | p.G57W | Missense | 2/5 | - | 1 |
| 7-100491685-C-G | c.169G>C | p.G57R | Missense | 2/5 | - | 3 |
| 7-100491685-C-T | c.169G>A | p.G57R | Missense | 2/5 | - | 7 |
| 7-100491686-G-A | c.168C>T | p.P56= | Synonymous | 2/5 | - | 1 |
| 7-100491686-G-C | c.168C>G | p.P56= | Synonymous | 2/5 | - | 1 |
| 7-100491687-G-A | c.167C>T | p.P56L | Missense | 2/5 | - | 1 |
| 7-100491692-C-T | c.162G>A | p.K54= | Synonymous | 2/5 | - | 1 |
| 7-100491699-C-T | c.155G>A | p.R52H | Missense | 2/5 | - | 1 |
| 7-100491700-G-T | c.154C>A | p.R52S | Missense | 2/5 | - | 1 |
| 7-100491705-C-A | c.149G>T | p.G50V | Missense | 2/5 | - | 1 |
| 7-100491708-C-T | c.146G>A | p.R49Q | Missense | 2/5 | - | 2 |
| 7-100491714-C-CG | c.139dup | p.R47Pfs*66 | Frameshift | 2/5 | - | 1 |
| 7-100491716-G-C | c.138C>G | p.G46= | Synonymous | 2/5 | - | 1 |
| 7-100491723-C-T | c.131G>A | p.R44H | Missense | 2/5 | - | 3 |
| 7-100491724-G-C | c.130C>G | p.R44G | Missense | 2/5 | - | 1 |
| 7-100491725-C-G | c.129G>C | p.V43= | Synonymous | 2/5 | - | 1 |
| 7-100491729-G-A | c.125C>T | p.T42M | Missense | 2/5 | - | 2 |
| 7-100491742-C-G | c.112G>C | p.E38Q | Missense | 2/5 | - | 1 |
| 7-100491742-C-T | c.112G>A | p.E38K | Missense | 2/5 | - | 1 |
| 7-100491748-C-G | c.106G>C | p.D36H | Missense | 2/5 | - | 1 |
| 7-100491748-C-T | c.106G>A | p.D36N | Missense | 2/5 | - | 1 |
| 7-100491753-C-T | c.101G>A | p.R34Q | Missense | 2/5 | - | 9 |
| 7-100491754-G-A | c.100C>T | p.R34W | Missense | 2/5 | - | 1 |
| 7-100491756-CC-TT | c.97_98delinsAA | p.G33N | Missense | 2/5 | - | 1 |
| 7-100491757-C-A | c.97G>T | p.G33C | Missense | 2/5 | - | 1 |
| 7-100491757-C-G | c.97G>C | p.G33R | Missense | 2/5 | - | 1 |
| 7-100491760-C-G | c.94G>C | p.E32Q | Missense | 2/5 | - | 1 |
| 7-100491760-C-T | c.94G>A | p.E32K | Missense | 2/5 | - | 1 |
| 7-100491762-G-C | c.92C>G | p.A31G | Missense | 2/5 | - | 1 |
| 7-100491763-C-A | c.91G>T | p.A31S | Missense | 2/5 | - | 1 |
| 7-100491766-C-G | c.88G>C | p.G30R | Missense | 2/5 | - | 1 |
| 7-100491766-C-T | c.88G>A | p.G30R | Missense | 2/5 | - | 1 |
| 7-100491771-CC-TT | c.82_83delinsAA | p.G28K | Missense | 2/5 | - | 2 |
| 7-100491771-C-T | c.83G>A | p.G28E | Missense | 2/5 | - | 1 |
| 7-100491771-C-CCTT | c.82_83insAAG | p.G27_G28insE | InFrameInsertion | 2/5 | - | 1 |
| 7-100491774-C-G | c.80G>C | p.G27A | Missense | 2/5 | - | 1 |
| 7-100491778-C-CTCCT | c.75_76insAGGA | p.G26Rfs*8 | Frameshift | 2/5 | - | 1 |
| 7-100491780-A-G | c.74T>C | p.L25P | Missense | 2/5 | - | 1 |
| 7-100491780-A-T | c.74T>A | p.L25Q | Missense | 2/5 | - | 1 |
| 7-100491781-G-T | c.73C>A | p.L25M | Missense | 2/5 | - | 1 |
| 7-100491783-A-C | c.71T>G | p.L24R | Missense | 2/5 | - | 1 |
| 7-100491784-G-T | c.70C>A | p.L24I | Missense | 2/5 | - | 1 |
| 7-100491786-C-A | c.68G>T | p.W23L | Missense | 2/5 | - | 1 |
| 7-100491787-A-T | c.67T>A | p.W23R | Missense | 2/5 | - | 1 |
| 7-100491788-GAG-CAT | c.64_66delinsATG | p.L22M | Missense | 2/5 | - | 1 |
| 7-100491789-A-G | c.65T>C | p.L22P | Missense | 2/5 | - | 1 |
| 7-100491789-GA-G | c.65del | p.L22Pfs*20 | Frameshift | 2/5 | - | 1 |
| 7-100491790-G-C | c.64C>G | p.L22V | Missense | 2/5 | - | 1 |
| 7-100491790-G-T | c.64C>A | p.L22I | Missense | 2/5 | - | 1 |
| 7-100491792-A-T | c.62T>A | p.L21H | Missense | 2/5 | - | 1 |
| 7-100491794-GAGGAGA-G | c.54_59del | p.L21_L22del | InFrameDeletion | 2/5 | - | 1 |
| 7-100491797-GAGA-G | c.54_56del | p.L22del | InFrameDeletion | 2/5 | - | 1 |
| 7-100491810-G-A | c.44C>T | p.S15F | Missense | 2/5 | - | 1 |
| 7-100491813-G-C | c.41C>G | p.A14G | Missense | 2/5 | - | 1 |
| 7-100491814-C-T | c.40G>A | p.A14T | Missense | 2/5 | - | 2 |
| 7-100491820-A-C | c.34T>G | p.S12A | Missense | 2/5 | - | 1 |
| 7-100491825-G-A | c.29C>T | p.T10M | Missense | 2/5 | - | 3 |
| 7-100491827-G-A | c.27C>T | p.H9= | Synonymous | 2/5 | - | 1 |
| 7-100491829-G-A | c.25C>T | p.H9Y | Missense | 2/5 | - | 1 |
| 7-100491832-G-C | c.22C>G | p.L8V | Missense | 2/5 | - | 1 |
| 7-100491833-C-A | c.21G>T | p.L7= | Synonymous | 2/5 | - | 1 |
| 7-100491833-C-G | c.21G>C | p.L7= | Synonymous | 2/5 | - | 1 |
| 7-100491833-C-T | c.21G>A | p.L7= | Synonymous | 2/5 | - | 1 |
| 7-100491835-G-A | c.19C>T | p.L7= | Synonymous | 2/5 | - | 1 |
| 7-100491834-A-T | c.20T>A | p.L7Q | Missense | 2/5 | - | 2 |
| 7-100491842-C-A | c.12G>T | p.P4= | Synonymous | 2/5 | - | 1 |
| 7-100491842-C-G | c.12G>C | p.P4= | Synonymous | 2/5 | - | 1 |
| 7-100491842-C-T | c.12G>A | p.P4= | Synonymous | 2/5 | - | 1 |
| 7-100491847-G-T | c.7C>A | p.P3T | Missense | 2/5 | - | 1 |
| 7-100491848-C-T | c.6G>A | p.R2= | Synonymous | 2/5 | - | 6 |
| 7-100491850-T-G | c.4A>C | p.R2= | Synonymous | 2/5 | - | 6 |
| 7-100491878-T-C | c.-20-5A>G | - | IntronicSNV | - | 1/4 | 1 |
| 7-100492322-C-G | c.-20-449G>C | - | IntronicSNV | - | 1/4 | 1 |
| 7-100492322-C-T | c.-20-449G>A | - | IntronicSNV | - | 1/4 | 1 |
| 7-100492896-G-A | c.-21+527C>T | - | intron_variant | - | 1/4 | 1 |