EYA1

EYA1 EYA transcriptional coactivator and phosphatase 1

Annotation transcript: NM_000503.6

1262 unique variant annotations were identified in 491 publications

Gene-Specific Resource Links:

OMIM

Entrez

Ensembl

HGNC

COSMIC

ClinGen

PubMed

GeneReviews

ClinVar

gnomAD v3

gnomAD v2.1

Variant ID	cDot	pDot	Consequence	Exon	Intron	Reference Count
8-72109994-C-T	c.*1581G>A	-	3-UTRSNV	18/18	-	5
8-72110251-A-G	c.*1324T>C	-	3-UTRSNV	18/18	-	3
8-72110265-C-G	c.*1310G>C	-	3-UTRSNV	18/18	-	1
8-72110265-C-T	c.*1310G>A	-	3-UTRSNV	18/18	-	1
8-72110775-A-G	c.*800T>C	-	3-UTRSNV	18/18	-	1
8-72111471-G-A	c.*104C>T	-	3-UTRSNV	18/18	-	1
8-72111579-AG-A	c.1774del	p.L592Cfs*47	Frameshift	18/18	-	1
8-72111585-TC-T	c.1768del	p.E590Sfs*49	Frameshift	18/18	-	1
8-72111587-C-CA	c.1766dup	p.E590Gfs*42	Frameshift	18/18	-	2
8-72111592-C-G	c.1762G>C	p.E588Q	Missense	18/18	-	3
8-72111592-C-T	c.1762G>A	p.E588K	Missense	18/18	-	3
8-72111593-C-A	c.1761G>T	p.L587F	Missense	18/18	-	1
8-72111599-A-G	c.1755T>C	p.H585=	Synonymous	18/18	-	29
8-72111599-A-AT	c.1754dup	p.H585Qfs*47	Frameshift	18/18	-	1
8-72111605-C-A	c.1749G>T	p.L583=	Synonymous	18/18	-	2
8-72111606-A-G	c.1748T>C	p.L583P	Missense	18/18	-	4
8-72111608-G-A	c.1746C>T	p.A582=	Synonymous	18/18	-	1
8-72111609-G-C	c.1745C>G	p.A582G	Missense	18/18	-	3
8-72111608-GGCCATGAGGTCCGAGT-G	c.1730_1745del	p.H577Pfs*57	Frameshift	18/18	-	1
8-72111611-C-T	c.1743G>A	p.M581I	Missense	18/18	-	1
8-72111615-A-C	c.1739T>G	p.L580R	Missense	18/18	-	2
8-72111619-C-A	c.1735G>T	p.D579Y	Missense	18/18	-	1
8-72111618-TC-T	c.1735del	p.D579Tfs*60	Frameshift	18/18	-	3
8-72111621-G-A	c.1733C>T	p.S578L	Missense	18/18	-	2
8-72111622-A-T	c.1732T>A	p.S578T	Missense	18/18	-	1
8-72111625-G-A	c.1729C>T	p.H577Y	Missense	18/18	-	4
8-72111629-G-A	c.1725C>T	p.S575=	Synonymous	18/18	-	1
8-72111630-G-C	c.1724C>G	p.S575C	Missense	18/18	-	2
8-72111631-A-G	c.1723T>C	p.S575P	Missense	18/18	-	1
8-72111633-A-G	c.1721T>C	p.I574T	Missense	18/18	-	2
8-72111634-T-C	c.1720A>G	p.I574V	Missense	18/18	-	1
8-72111635-C-T	c.1719G>A	p.R573=	Synonymous	18/18	-	3
8-72111637-T-G	c.1717A>C	p.R573=	Synonymous	18/18	-	1
8-72111636-C-T	c.1718G>A	p.R573K	Missense	18/18	-	1
8-72111637-T-C	c.1717A>G	p.R573G	Missense	18/18	-	1
8-72111638-C-A	c.1716G>T	p.W572C	Missense	18/18	-	1
8-72111638-C-T	c.1716G>A	p.W572*	Nonsense	18/18	-	1
8-72111644-G-T	c.1710C>A	p.P570=	Synonymous	18/18	-	1
8-72111645-G-C	c.1709C>G	p.P570R	Missense	18/18	-	1
8-72111646-G-A	c.1708C>T	p.P570S	Missense	18/18	-	4
8-72111648-A-G	c.1706T>C	p.M569T	Missense	18/18	-	3
8-72111649-T-C	c.1705A>G	p.M569V	Missense	18/18	-	1
8-72111650-C-T	c.1704G>A	p.A568=	Synonymous	18/18	-	2
8-72111651-G-A	c.1703C>T	p.A568V	Missense	18/18	-	7
8-72111652-C-T	c.1702G>A	p.A568T	Missense	18/18	-	3
8-72111653-G-T	c.1701C>A	p.H567Q	Missense	18/18	-	1
8-72111658-G-A	c.1699-3C>T	-	IntronicSNV	-	17/17	2
8-72111678-T-C	c.1699-23A>G	-	IntronicSNV	-	17/17	7
8-72111710-C-T	c.1699-55G>A	-	IntronicSNV	-	17/17	2
8-72111739-G-C	c.1699-84C>G	-	IntronicSNV	-	17/17	5
8-72114776-A-T	c.1699-3121T>A	-	IntronicSNV	-	17/17	1
8-72123258-T-C	c.1698+133A>G	-	IntronicSNV	-	17/17	1
8-72123370-G-A	c.1698+21C>T	-	IntronicSNV	-	17/17	1
8-72123391-C-T	c.1698G>A	p.K566=	Synonymous	17/18	-	3
8-72123392-T-G	c.1697A>C	p.K566T	Missense	17/18	-	1
8-72123393-T-TA	c.1695_1696insT	p.K566*	Nonsense	17/18	-	2
8-72123396-T-C	c.1693A>G	p.K565E	Missense	17/18	-	1
8-72123391-CT-C	c.1697del	p.K566Sfs*73	Frameshift	17/18	-	6
8-72123398-G-C	c.1691C>G	p.A564G	Missense	17/18	-	1
8-72123398-G-T	c.1691C>A	p.A564E	Missense	17/18	-	2
8-72123399-C-T	c.1690G>A	p.A564T	Missense	17/18	-	1
8-72123401-C-T	c.1688G>A	p.G563E	Missense	17/18	-	2
8-72123402-C-A	c.1687G>T	p.G563*	Nonsense	17/18	-	1
8-72123402-C-G	c.1687G>C	p.G563R	Missense	17/18	-	1
8-72123402-C-T	c.1687G>A	p.G563R	Missense	17/18	-	2
8-72123405-G-C	c.1684C>G	p.Q562E	Missense	17/18	-	3
8-72123405-G-T	c.1684C>A	p.Q562K	Missense	17/18	-	1
8-72123408-C-T	c.1681G>A	p.E561K	Missense	17/18	-	2
8-72123411-C-G	c.1678G>C	p.E560Q	Missense	17/18	-	1
8-72123405-GTTC-G	c.1681_1683del	p.E561del	InFrameDeletion	17/18	-	1
8-72123416-A-G	c.1673T>C	p.V558A	Missense	17/18	-	1
8-72123416-ACAC-A	c.1670_1672del	p.G557del	InFrameDeletion	17/18	-	1
8-72123419-C-G	c.1670G>C	p.G557A	Missense	17/18	-	1
8-72123420-C-CA	c.1668dup	p.G557Wfs*75	Frameshift	17/18	-	1
8-72123425-C-T	c.1664G>A	p.G555E	Missense	17/18	-	1
8-72123426-C-G	c.1663G>C	p.G555R	Missense	17/18	-	1
8-72123426-C-T	c.1663G>A	p.G555R	Missense	17/18	-	1
8-72123427-TA-GT	c.1661_1662delinsAC	p.I554N	Missense	17/18	-	1
8-72123433-A-G	c.1656T>C	p.V552=	Synonymous	17/18	-	4
8-72123434-A-G	c.1655T>C	p.V552A	Missense	17/18	-	1
8-72123439-C-G	c.1650G>C	p.V550=	Synonymous	17/18	-	1
8-72123439-C-T	c.1650G>A	p.V550=	Synonymous	17/18	-	1
8-72123440-A-T	c.1649T>A	p.V550E	Missense	17/18	-	2
8-72123443-A-G	c.1646T>C	p.V549A	Missense	17/18	-	1
8-72123444-C-A	c.1645G>T	p.V549L	Missense	17/18	-	1
8-72123445-T-A	c.1644A>T	p.K548N	Missense	17/18	-	1
8-72123445-T-G	c.1644A>C	p.K548N	Missense	17/18	-	2
8-72123448-T-C	c.1641A>G	p.R547=	Synonymous	17/18	-	1
8-72123449-C-G	c.1640G>C	p.R547T	Missense	17/18	-	1
8-72123450-T-C	c.1639A>G	p.R547G	Missense	17/18	-	3
8-72123450-T-G	c.1639A>C	p.R547=	Synonymous	17/18	-	1
8-72123450-T-TA	c.1638_1639insT	p.R547*	Nonsense	17/18	-	1
8-72123453-C-A	c.1636G>T	p.G546*	Nonsense	17/18	-	1
8-72123455-A-G	c.1634T>C	p.F545S	Missense	17/18	-	1
8-72123457-C-A	c.1632G>T	p.R544S	Missense	17/18	-	5
8-72123457-C-G	c.1632G>C	p.R544S	Missense	17/18	-	3
8-72123458-C-A	c.1631G>T	p.R544M	Missense	17/18	-	1
8-72123458-C-T	c.1631G>A	p.R544K	Missense	17/18	-	2
8-72123462-G-A	c.1627C>T	p.Q543*	Nonsense	17/18	-	4
8-72123463-A-C	c.1626T>G	p.I542M	Missense	17/18	-	1
8-72123464-A-T	c.1625T>A	p.I542N	Missense	17/18	-	2
8-72123465-T-G	c.1624A>C	p.I542L	Missense	17/18	-	1
8-72123468-T-C	c.1621A>G	p.I541V	Missense	17/18	-	3
8-72123469-T-A	c.1620A>T	p.R540S	Missense	17/18	-	2
8-72123470-C-G	c.1619G>C	p.R540T	Missense	17/18	-	1
8-72123472-C-T	c.1617G>A	p.E539=	Synonymous	17/18	-	2
8-72123473-T-G	c.1616A>C	p.E539A	Missense	17/18	-	1
8-72123474-C-A	c.1615G>T	p.E539*	Nonsense	17/18	-	1
8-72123479-CA-GT	c.1609_1610delinsAC	p.C537T	Missense	17/18	-	1
8-72123479-C-T	c.1610G>A	p.C537Y	Missense	17/18	-	1
8-72123480-A-G	c.1609T>C	p.C537R	Missense	17/18	-	1
8-72123481-G-A	c.1608C>T	p.S536=	Synonymous	17/18	-	4
8-72123482-CT-AA	c.1606_1607delinsTT	p.S536F	Missense	17/18	-	1
8-72123484-T-A	c.1605A>T	p.E535D	Missense	17/18	-	4
8-72123486-C-A	c.1603G>T	p.E535*	Nonsense	17/18	-	1
8-72123486-C-T	c.1603G>A	p.E535K	Missense	17/18	-	2
8-72123487-T-A	c.1602A>T	p.K534N	Missense	17/18	-	1
8-72123487-T-G	c.1602A>C	p.K534N	Missense	17/18	-	2
8-72123488-T-C	c.1601A>G	p.K534R	Missense	17/18	-	1
8-72123491-C-T	c.1598G>A	p.G533E	Missense	17/18	-	4
8-72126639-C-T	c.1597+983G>A	-	IntronicSNV	-	16/17	1
8-72127279-C-T	c.1597+343G>A	-	IntronicSNV	-	16/17	1
8-72127507-AT-A	c.1597+114del	-	IntronicDeletion	-	16/17	1
8-72127562-C-T	c.1597+60G>A	-	IntronicSNV	-	16/17	1
8-72127563-G-A	c.1597+59C>T	-	IntronicSNV	-	16/17	5
8-72127616-G-T	c.1597+6C>A	-	IntronicSNV	-	16/17	1
8-72127621-C-A	c.1597+1G>T	-	IntronicSNV	-	16/17	1
8-72127622-C-G	c.1597G>C	p.G533R	Missense	16/18	-	2
8-72127622-C-T	c.1597G>A	p.G533R	Missense	16/18	-	2
8-72127625-T-A	c.1594A>T	p.I532L	Missense	16/18	-	1
8-72127625-T-G	c.1594A>C	p.I532L	Missense	16/18	-	1
8-72127628-T-TA	c.1590dup	p.K531*	Nonsense	16/18	-	1
8-72127631-T-C	c.1588A>G	p.T530A	Missense	16/18	-	2
8-72127635-A-G	c.1584T>C	p.S528=	Synonymous	16/18	-	1
8-72127639-T-A	c.1580A>T	p.Y527F	Missense	16/18	-	1
8-72127639-T-C	c.1580A>G	p.Y527C	Missense	16/18	-	4
8-72127640-A-T	c.1579T>A	p.Y527N	Missense	16/18	-	1
8-72127643-T-C	c.1576A>G	p.I526V	Missense	16/18	-	2
8-72127643-T-G	c.1576A>C	p.I526L	Missense	16/18	-	1
8-72127644-A-T	c.1575T>A	p.N525K	Missense	16/18	-	1
8-72127651-A-G	c.1568T>C	p.I523T	Missense	16/18	-	2
8-72127652-T-C	c.1567A>G	p.I523V	Missense	16/18	-	3
8-72127655-G-A	c.1564C>T	p.P522S	Missense	16/18	-	3
8-72127655-G-C	c.1564C>G	p.P522A	Missense	16/18	-	4
8-72127658-A-G	c.1561T>C	p.F521L	Missense	16/18	-	1
8-72127659-T-C	c.1560A>G	p.V520=	Synonymous	16/18	-	1
8-72127661-C-A	c.1558G>T	p.V520L	Missense	16/18	-	1
8-72127661-C-G	c.1558G>C	p.V520L	Missense	16/18	-	1
8-72127663-A-T	c.1556T>A	p.I519N	Missense	16/18	-	1
8-72127665-T-G	c.1554A>C	p.G518=	Synonymous	16/18	-	1
8-72127666-C-T	c.1553G>A	p.G518E	Missense	16/18	-	2
8-72127667-C-T	c.1552G>A	p.G518R	Missense	16/18	-	2
8-72127668-T-C	c.1551A>G	p.L517=	Synonymous	16/18	-	2
8-72127670-A-G	c.1549T>C	p.L517=	Synonymous	16/18	-	1
8-72127673-C-A	c.1546G>T	p.G516W	Missense	16/18	-	1
8-72127676-A-G	c.1543T>C	p.Y515H	Missense	16/18	-	2
8-72127677-C-G	c.1542G>C	p.L514=	Synonymous	16/18	-	2
8-72127678-A-G	c.1541T>C	p.L514P	Missense	16/18	-	2
8-72127676-ACAG-A	c.1540_1542del	p.L514del	InFrameDeletion	16/18	-	2
8-72127680-C-A	c.1539G>T	p.L513=	Synonymous	16/18	-	1
8-72127680-C-G	c.1539G>C	p.L513=	Synonymous	16/18	-	1
8-72127680-C-T	c.1539G>A	p.L513=	Synonymous	16/18	-	1
8-72127682-G-A	c.1537C>T	p.L513=	Synonymous	16/18	-	1
8-72127681-A-G	c.1538T>C	p.L513P	Missense	16/18	-	1
8-72127682-G-T	c.1537C>A	p.L513M	Missense	16/18	-	2
8-72127683-G-A	c.1536C>T	p.V512=	Synonymous	16/18	-	1
8-72127685-C-A	c.1534G>T	p.V512F	Missense	16/18	-	2
8-72127688-T-A	c.1531A>T	p.K511*	Nonsense	16/18	-	4
8-72127688-T-C	c.1531A>G	p.K511E	Missense	16/18	-	1
8-72127689-C-T	c.1530G>A	p.A510=	Synonymous	16/18	-	5
8-72127690-G-A	c.1529C>T	p.A510V	Missense	16/18	-	1
8-72127691-C-T	c.1528G>A	p.A510T	Missense	16/18	-	3
8-72127692-C-T	c.1527G>A	p.L509=	Synonymous	16/18	-	1
8-72127696-G-A	c.1523C>T	p.A508V	Missense	16/18	-	5
8-72127698-T-G	c.1521A>C	p.P507=	Synonymous	16/18	-	2
8-72127699-G-A	c.1520C>T	p.P507L	Missense	16/18	-	2
8-72127704-G-T	c.1515C>A	p.L505=	Synonymous	16/18	-	1
8-72127705-A-C	c.1514T>G	p.L505R	Missense	16/18	-	7
8-72127706-G-A	c.1513C>T	p.L505F	Missense	16/18	-	1
8-72127712-GT-G	c.1507del	p.T503Lfs*15	Frameshift	16/18	-	1
8-72127712-T-C	c.1507A>G	p.T503A	Missense	16/18	-	1
8-72127711-GTAGTTGT-G	c.1501_1507del	p.T501Lfs*15	Frameshift	16/18	-	1
8-72127714-G-C	c.1505C>G	p.T502S	Missense	16/18	-	2
8-72127715-T-A	c.1504A>T	p.T502S	Missense	16/18	-	1
8-72127719-TAC-CAT	c.1498_1500delinsATG	p.V500M	Missense	16/18	-	1
8-72127723-A-ATT	c.1495_1496insAA	p.L499*	Nonsense	16/18	-	1
8-72127724-A-C	c.1495T>G	p.L499V	Missense	16/18	-	1
8-72127722-TA-T	c.1496del	p.L499*	Frameshift	16/18	-	1
8-72127727-T-C	c.1492A>G	p.I498V	Missense	16/18	-	1
8-72127729-TT-GC	c.1489_1490delinsGC	p.N497A	Missense	16/18	-	1
8-72127730-T-C	c.1489A>G	p.N497D	Missense	16/18	-	2
8-72127730-T-G	c.1489A>C	p.N497H	Missense	16/18	-	1
8-72127731-CAC-GAT	c.1486_1488delinsATC	p.V496I	Missense	16/18	-	1
8-72127732-A-T	c.1487T>A	p.V496E	Missense	16/18	-	1
8-72127734-A-G	c.1485T>C	p.C495=	Synonymous	16/18	-	1
8-72127730-TCA-T	c.1487_1488del	p.V496Efs*35	Frameshift	16/18	-	1
8-72127736-A-T	c.1483T>A	p.C495S	Missense	16/18	-	1
8-72127741-G-A	c.1478C>T	p.T493I	Missense	16/18	-	1
8-72127742-T-C	c.1477A>G	p.T493A	Missense	16/18	-	1
8-72127764-C-A	c.1476-21G>T	-	IntronicSNV	-	15/17	12
8-72127848-C-A	c.1475+1G>T	-	IntronicSNV	-	15/17	1
8-72127849-C-G	c.1475G>C	p.R492P	Missense	15/18	-	2
8-72127849-C-T	c.1475G>A	p.R492Q	Missense	15/18	-	1
8-72127850-G-A	c.1474C>T	p.R492W	Missense	15/18	-	2
8-72127849-C-CG	c.1474dup	p.R492Pfs*40	Frameshift	15/18	-	2
8-72127852-G-C	c.1472C>G	p.S491C	Missense	15/18	-	2
8-72127854-G-A	c.1470C>T	p.H490=	Synonymous	15/18	-	1
8-72127856-G-A	c.1468C>T	p.H490Y	Missense	15/18	-	1
8-72127857-A-G	c.1467T>C	p.I489=	Synonymous	15/18	-	1
8-72127862-G-A	c.1462C>T	p.L488F	Missense	15/18	-	1
8-72127863-C-A	c.1461G>T	p.S487=	Synonymous	15/18	-	1
8-72127863-C-G	c.1461G>C	p.S487=	Synonymous	15/18	-	1
8-72127863-C-T	c.1461G>A	p.S487=	Synonymous	15/18	-	4
8-72127864-G-A	c.1460C>T	p.S487L	Missense	15/18	-	12
8-72127865-A-G	c.1459T>C	p.S487P	Missense	15/18	-	9
8-72127870-G-A	c.1454C>T	p.A485V	Missense	15/18	-	2
8-72127871-C-T	c.1453G>A	p.A485T	Missense	15/18	-	4
8-72127872-T-C	c.1452A>G	p.K484=	Synonymous	15/18	-	1
8-72127877-G-A	c.1447C>T	p.L483=	Synonymous	15/18	-	1
8-72127878-G-A	c.1446C>T	p.A482=	Synonymous	15/18	-	1
8-72127881-C-A	c.1443G>T	p.L481=	Synonymous	15/18	-	2
8-72127881-C-G	c.1443G>C	p.L481=	Synonymous	15/18	-	2
8-72127881-C-T	c.1443G>A	p.L481=	Synonymous	15/18	-	3
8-72127883-G-A	c.1441C>T	p.L481=	Synonymous	15/18	-	3
8-72127883-G-C	c.1441C>G	p.L481V	Missense	15/18	-	2
8-72127886-T-C	c.1438A>G	p.T480A	Missense	15/18	-	1
8-72127888-A-T	c.1436T>A	p.L479*	Nonsense	15/18	-	1
8-72127889-A-C	c.1435T>G	p.L479V	Missense	15/18	-	1
8-72127891-C-A	c.1433G>T	p.W478L	Missense	15/18	-	2
8-72127894-G-C	c.1430C>G	p.S477C	Missense	15/18	-	1
8-72127894-G-T	c.1430C>A	p.S477Y	Missense	15/18	-	1
8-72127898-C-T	c.1426G>A	p.D476N	Missense	15/18	-	7
8-72127899-G-A	c.1425C>T	p.T475=	Synonymous	15/18	-	3
8-72127899-G-T	c.1425C>A	p.T475=	Synonymous	15/18	-	1
8-72127898-CG-C	c.1425del	p.D476Tfs*4	Frameshift	15/18	-	1
8-72127900-G-T	c.1424C>A	p.T475N	Missense	15/18	-	1
8-72127904-G-T	c.1420C>A	p.L474M	Missense	15/18	-	1
8-72127905-G-A	c.1419C>T	p.A473=	Synonymous	15/18	-	2
8-72127905-G-C	c.1419C>G	p.A473=	Synonymous	15/18	-	1
8-72127905-G-T	c.1419C>A	p.A473=	Synonymous	15/18	-	1
8-72127907-C-A	c.1417G>T	p.A473S	Missense	15/18	-	3
8-72127912-AATTTCGG-A	c.1406_1412del	p.A469Vfs*4	Frameshift	15/18	-	1
8-72127912-A-G	c.1412T>C	p.I471T	Missense	15/18	-	1
8-72127915-T-G	c.1409A>C	p.E470A	Missense	15/18	-	2
8-72127916-C-T	c.1408G>A	p.E470K	Missense	15/18	-	9
8-72127919-C-T	c.1405G>A	p.A469T	Missense	15/18	-	2
8-72127921-C-T	c.1403G>A	p.R468K	Missense	15/18	-	1
8-72127922-T-C	c.1402A>G	p.R468G	Missense	15/18	-	1
8-72127923-C-G	c.1401G>C	p.L467F	Missense	15/18	-	1
8-72127926-C-G	c.1398G>C	p.Q466H	Missense	15/18	-	1
8-72127929-C-A	c.1395G>T	p.L465=	Synonymous	15/18	-	1
8-72127934-CA-C	c.1390del	p.W464Gfs*4	Frameshift	15/18	-	1
8-72127935-G-A	c.1389C>T	p.A463=	Synonymous	15/18	-	2
8-72127935-G-C	c.1389C>G	p.A463=	Synonymous	15/18	-	1
8-72127935-G-T	c.1389C>A	p.A463=	Synonymous	15/18	-	1
8-72127936-G-A	c.1388C>T	p.A463V	Missense	15/18	-	1
8-72127937-C-T	c.1387G>A	p.A463T	Missense	15/18	-	1
8-72127938-T-A	c.1386A>T	p.E462D	Missense	15/18	-	1
8-72127938-T-G	c.1386A>C	p.E462D	Missense	15/18	-	1
8-72127940-C-T	c.1384G>A	p.E462K	Missense	15/18	-	7
8-72127939-TCC-T	c.1383_1384del	p.E462Sfs*10	Frameshift	15/18	-	1
8-72127941-C-A	c.1383G>T	p.R461S	Missense	15/18	-	1
8-72127941-C-T	c.1383G>A	p.R461=	Synonymous	15/18	-	1
8-72127942-C-T	c.1382G>A	p.R461K	Missense	15/18	-	1
8-72127943-CT-C	c.1381del	p.R461Gfs*7	Frameshift	15/18	-	2
8-72127943-T-G	c.1381A>C	p.R461=	Synonymous	15/18	-	1
8-72127944-C-A	c.1380G>T	p.K460N	Missense	15/18	-	1
8-72127944-C-G	c.1380G>C	p.K460N	Missense	15/18	-	1
8-72127944-C-T	c.1380G>A	p.K460=	Synonymous	15/18	-	1
8-72127948-G-C	c.1376C>G	p.A459G	Missense	15/18	-	1
8-72127949-C-G	c.1375G>C	p.A459P	Missense	15/18	-	3
8-72127951-G-A	c.1373C>T	p.P458L	Missense	15/18	-	5
8-72127952-G-C	c.1372C>G	p.P458A	Missense	15/18	-	2
8-72127952-G-T	c.1372C>A	p.P458T	Missense	15/18	-	1
8-72127953-A-C	c.1371T>G	p.G457=	Synonymous	15/18	-	1
8-72127953-A-G	c.1371T>C	p.G457=	Synonymous	15/18	-	1
8-72127953-A-T	c.1371T>A	p.G457=	Synonymous	15/18	-	2
8-72128016-G-A	c.1361-53C>T	-	IntronicSNV	-	14/17	1
8-72128152-T-C	c.1361-189A>G	-	IntronicSNV	-	14/17	1
8-72128862-A-G	c.1360+65T>C	-	IntronicSNV	-	14/17	1
8-72128874-G-A	c.1360+53C>T	-	IntronicSNV	-	14/17	8
8-72128922-C-T	c.1360+5G>A	-	IntronicSNV	-	14/17	1
8-72128928-T-A	c.1359A>T	p.G453=	Synonymous	14/18	-	1
8-72128928-T-C	c.1359A>G	p.G453=	Synonymous	14/18	-	1
8-72128928-T-G	c.1359A>C	p.G453=	Synonymous	14/18	-	1
8-72128929-C-G	c.1358G>C	p.G453A	Missense	14/18	-	1
8-72128935-T-C	c.1352A>G	p.N451S	Missense	14/18	-	1
8-72128937-A-AT	c.1349dup	p.N450Kfs*2	Frameshift	14/18	-	2
8-72128942-TGTA-T	c.1342_1344del	p.Y448del	InFrameDeletion	14/18	-	1
8-72128944-T-C	c.1343A>G	p.Y448C	Missense	14/18	-	3
8-72128945-A-G	c.1342T>C	p.Y448H	Missense	14/18	-	1
8-72128947-G-A	c.1340C>T	p.T447I	Missense	14/18	-	2
8-72128948-T-C	c.1339A>G	p.T447A	Missense	14/18	-	4
8-72128953-T-C	c.1334A>G	p.Y445C	Missense	14/18	-	1
8-72128957-T-A	c.1330A>T	p.I444F	Missense	14/18	-	1
8-72128960-C-A	c.1327G>T	p.E443*	Nonsense	14/18	-	1
8-72128960-C-G	c.1327G>C	p.E443Q	Missense	14/18	-	1
8-72128962-T-C	c.1325A>G	p.K442R	Missense	14/18	-	1
8-72128964-T-C	c.1323A>G	p.V441=	Synonymous	14/18	-	2
8-72128966-C-A	c.1321G>T	p.V441L	Missense	14/18	-	2
8-72128966-C-G	c.1321G>C	p.V441L	Missense	14/18	-	1
8-72128967-CC-AT	c.1319_1320delinsAT	p.R440H	Missense	14/18	-	1
8-72128967-CCG-ACA	c.1318_1320delinsTGT	p.R440C	Missense	14/18	-	1
8-72128968-C-A	c.1319G>T	p.R440L	Missense	14/18	-	1
8-72128968-C-T	c.1319G>A	p.R440Q	Missense	14/18	-	12
8-72128967-C-A	c.1320G>T	p.R440=	Synonymous	14/18	-	2
8-72128967-C-G	c.1320G>C	p.R440=	Synonymous	14/18	-	2
8-72128967-C-T	c.1320G>A	p.R440=	Synonymous	14/18	-	4
8-72128969-G-A	c.1318C>T	p.R440W	Missense	14/18	-	2
8-72128969-G-T	c.1318C>A	p.R440=	Synonymous	14/18	-	3
8-72128971-C-G	c.1316G>C	p.R439T	Missense	14/18	-	1
8-72128974-T-A	c.1313A>T	p.Y438F	Missense	14/18	-	1
8-72128975-A-G	c.1312T>C	p.Y438H	Missense	14/18	-	1
8-72128976-G-A	c.1311C>T	p.R437=	Synonymous	14/18	-	1
8-72128977-C-G	c.1310G>C	p.R437P	Missense	14/18	-	3
8-72128977-C-T	c.1310G>A	p.R437H	Missense	14/18	-	4
8-72128978-G-A	c.1309C>T	p.R437C	Missense	14/18	-	4
8-72128978-G-T	c.1309C>A	p.R437S	Missense	14/18	-	4
8-72128979-G-A	c.1308C>T	p.F436=	Synonymous	14/18	-	2
8-72128980-A-G	c.1307T>C	p.F436S	Missense	14/18	-	2
8-72128984-C-T	c.1303G>A	p.A435T	Missense	14/18	-	2
8-72128987-A-G	c.1300T>C	p.L434=	Synonymous	14/18	-	2
8-72128989-T-C	c.1298A>G	p.K433R	Missense	14/18	-	1
8-72128992-C-G	c.1295G>C	p.R432T	Missense	14/18	-	1
8-72128992-C-T	c.1295G>A	p.R432K	Missense	14/18	-	1
8-72128994-C-T	c.1293G>A	p.M431I	Missense	14/18	-	1
8-72128995-A-G	c.1292T>C	p.M431T	Missense	14/18	-	1
8-72128997-C-A	c.1290G>T	p.W430C	Missense	14/18	-	3
8-72128997-C-G	c.1290G>C	p.W430C	Missense	14/18	-	2
8-72128997-C-T	c.1290G>A	p.W430*	Nonsense	14/18	-	1
8-72128998-C-T	c.1289G>A	p.W430*	Nonsense	14/18	-	1
8-72128999-A-G	c.1288T>C	p.W430R	Missense	14/18	-	1
8-72129001-T-C	c.1286A>G	p.D429G	Missense	14/18	-	6
8-72129006-A-C	c.1281T>G	p.G427=	Synonymous	14/18	-	2
8-72129007-C-T	c.1280G>A	p.G427D	Missense	14/18	-	4
8-72129008-C-T	c.1279G>A	p.G427S	Missense	14/18	-	1
8-72129009-G-A	c.1278C>T	p.G426=	Synonymous	14/18	-	17
8-72129009-G-T	c.1278C>A	p.G426=	Synonymous	14/18	-	17
8-72129010-C-G	c.1277G>C	p.G426A	Missense	14/18	-	1
8-72129010-C-T	c.1277G>A	p.G426D	Missense	14/18	-	2
8-72129011-C-T	c.1276G>A	p.G426S	Missense	14/18	-	14
8-72129012-C-G	c.1275G>C	p.R425=	Synonymous	14/18	-	1
8-72129013-CG-TA	c.1273_1274delinsTA	p.R425*	Nonsense	14/18	-	1
8-72129013-C-T	c.1274G>A	p.R425Q	Missense	14/18	-	1
8-72129014-G-A	c.1273C>T	p.R425W	Missense	14/18	-	5
8-72129014-G-C	c.1273C>G	p.R425G	Missense	14/18	-	1
8-72129017-C-T	c.1270G>A	p.V424I	Missense	14/18	-	2
8-72129019-C-G	c.1268G>C	p.G423A	Missense	14/18	-	1
8-72129021-A-C	c.1266T>G	p.T422=	Synonymous	14/18	-	1
8-72129021-A-G	c.1266T>C	p.T422=	Synonymous	14/18	-	1
8-72129021-A-T	c.1266T>A	p.T422=	Synonymous	14/18	-	2
8-72129022-G-A	c.1265C>T	p.T422I	Missense	14/18	-	1
8-72129023-T-A	c.1264A>T	p.T422S	Missense	14/18	-	1
8-72129023-T-G	c.1264A>C	p.T422P	Missense	14/18	-	3
8-72129027-C-A	c.1260G>T	p.L420F	Missense	14/18	-	1
8-72129027-C-G	c.1260G>C	p.L420F	Missense	14/18	-	1
8-72129028-A-G	c.1259T>C	p.L420S	Missense	14/18	-	1
8-72129027-C-T	c.1260G>A	p.L420=	Synonymous	14/18	-	1
8-72129029-A-G	c.1258T>C	p.L420=	Synonymous	14/18	-	1
8-72129027-CA-C	c.1259del	p.L420Wfs*12	Frameshift	14/18	-	1
8-72129031-C-T	c.1256G>A	p.C419Y	Missense	14/18	-	2
8-72129032-A-G	c.1255T>C	p.C419R	Missense	14/18	-	1
8-72129032-CA-C	c.1255del	p.C419Vfs*13	Frameshift	14/18	-	1
8-72129031-CAT-C	c.1254_1255del	p.C419Ffs*32	Frameshift	14/18	-	1
8-72129039-A-T	c.1248T>A	p.A416=	Synonymous	14/18	-	1
8-72129042-A-C	c.1245T>G	p.S415R	Missense	14/18	-	2
8-72129049-G-A	c.1238C>T	p.A413V	Missense	14/18	-	1
8-72129051-T-A	c.1236A>T	p.A412=	Synonymous	14/18	-	1
8-72129051-T-C	c.1236A>G	p.A412=	Synonymous	14/18	-	1
8-72129051-T-G	c.1236A>C	p.A412=	Synonymous	14/18	-	1
8-72129053-C-G	c.1234G>C	p.A412P	Missense	14/18	-	1
8-72129053-C-T	c.1234G>A	p.A412T	Missense	14/18	-	1
8-72129055-G-T	c.1232C>A	p.A411D	Missense	14/18	-	1
8-72129056-C-G	c.1231G>C	p.A411P	Missense	14/18	-	1
8-72129059-G-A	c.1228C>T	p.P410S	Missense	14/18	-	4
8-72129059-G-C	c.1228C>G	p.P410A	Missense	14/18	-	2
8-72129062-A-C	c.1225T>G	p.F409V	Missense	14/18	-	1
8-72129063-G-A	c.1224C>T	p.G408=	Synonymous	14/18	-	1
8-72129064-C-T	c.1223G>A	p.G408D	Missense	14/18	-	1
8-72129070-G-A	c.1217C>T	p.T406I	Missense	14/18	-	1
8-72129070-G-C	c.1217C>G	p.T406R	Missense	14/18	-	1
8-72129073-C-A	c.1214G>T	p.G405V	Missense	14/18	-	1
8-72129073-C-T	c.1214G>A	p.G405E	Missense	14/18	-	5
8-72129074-C-T	c.1213G>A	p.G405R	Missense	14/18	-	1
8-72129081-A-T	c.1206T>A	p.Y402*	Nonsense	14/18	-	1
8-72129190-G-A	c.1199+10C>T	-	IntronicSNV	-	13/17	1
8-72129198-A-T	c.1199+2T>A	-	IntronicSNV	-	13/17	1
8-72129200-C-A	c.1199G>T	p.S400I	Missense	13/18	-	1
8-72129204-G-T	c.1195C>A	p.L399I	Missense	13/18	-	2
8-72129205-G-C	c.1194C>G	p.D398E	Missense	13/18	-	1
8-72129205-G-T	c.1194C>A	p.D398E	Missense	13/18	-	2
8-72129206-T-G	c.1193A>C	p.D398A	Missense	13/18	-	1
8-72129209-T-C	c.1190A>G	p.Q397R	Missense	13/18	-	3
8-72129213-C-G	c.1186G>C	p.G396R	Missense	13/18	-	1
8-72129213-C-T	c.1186G>A	p.G396R	Missense	13/18	-	4
8-72129214-G-A	c.1185C>T	p.N395=	Synonymous	13/18	-	2
8-72129214-G-C	c.1185C>G	p.N395K	Missense	13/18	-	2
8-72129214-G-T	c.1185C>A	p.N395K	Missense	13/18	-	1
8-72129218-T-A	c.1181A>T	p.D394V	Missense	13/18	-	1
8-72129219-C-A	c.1180G>T	p.D394Y	Missense	13/18	-	1
8-72129219-C-T	c.1180G>A	p.D394N	Missense	13/18	-	1
8-72129221-T-C	c.1178A>G	p.D393G	Missense	13/18	-	1
8-72129222-C-T	c.1177G>A	p.D393N	Missense	13/18	-	2
8-72129225-A-G	c.1174T>C	p.S392P	Missense	13/18	-	1
8-72129229-A-T	c.1170T>A	p.V390=	Synonymous	13/18	-	1
8-72129227-GA-G	c.1171del	p.S391Lfs*9	Frameshift	13/18	-	1
8-72129230-A-C	c.1169T>G	p.V390G	Missense	13/18	-	1
8-72129230-A-G	c.1169T>C	p.V390A	Missense	13/18	-	1
8-72129231-C-T	c.1168G>A	p.V390I	Missense	13/18	-	1
8-72129232-A-C	c.1167T>G	p.D389E	Missense	13/18	-	1
8-72129232-A-T	c.1167T>A	p.D389E	Missense	13/18	-	2
8-72129234-C-T	c.1165G>A	p.D389N	Missense	13/18	-	2
8-72129235-A-T	c.1164T>A	p.D388E	Missense	13/18	-	1
8-72129234-CATCT-C	c.1161_1164del	p.I387Mfs*12	Frameshift	13/18	-	1
8-72129237-C-T	c.1162G>A	p.D388N	Missense	13/18	-	1
8-72129243-G-A	c.1156C>T	p.H386Y	Missense	13/18	-	1
8-72129246-C-G	c.1153G>C	p.V385L	Missense	13/18	-	2
8-72129247-T-C	c.1152A>G	p.Q384=	Synonymous	13/18	-	1
8-72129250-G-T	c.1149C>A	p.D383E	Missense	13/18	-	1
8-72129254-C-T	c.1145G>A	p.C382Y	Missense	13/18	-	4
8-72129255-A-G	c.1144T>C	p.C382R	Missense	13/18	-	1
8-72129258-C-A	c.1141G>T	p.E381*	Nonsense	13/18	-	1
8-72129258-C-G	c.1141G>C	p.E381Q	Missense	13/18	-	3
8-72129258-C-T	c.1141G>A	p.E381K	Missense	13/18	-	4
8-72131426-G-A	c.1141-2168C>T	-	IntronicSNV	-	12/17	1
8-72136861-C-T	c.1141-7603G>A	-	IntronicSNV	-	12/17	1
8-72144089-TGC-T	c.1140+12748_1140+12749del	-	IntronicDeletion	-	12/17	1
8-72146067-C-T	c.1140+10771G>A	-	IntronicSNV	-	12/17	1
8-72148029-C-T	c.1140+8809G>A	-	IntronicSNV	-	12/17	1
8-72154378-G-T	c.1140+2460C>A	-	IntronicSNV	-	12/17	1
8-72156837-C-T	c.1140+1G>A	-	IntronicSNV	-	12/17	2
8-72156840-C-T	c.1138G>A	p.E380K	Missense	12/18	-	1
8-72156841-T-C	c.1137A>G	p.L379=	Synonymous	12/18	-	1
8-72156843-A-G	c.1135T>C	p.L379=	Synonymous	12/18	-	1
8-72156845-T-C	c.1133A>G	p.D378G	Missense	12/18	-	1
8-72156848-ATT-A	c.1129_1130del	p.N377*	Frameshift	12/18	-	1
8-72156851-A-C	c.1127T>G	p.F376C	Missense	12/18	-	1
8-72156854-A-C	c.1124T>G	p.F375C	Missense	12/18	-	1
8-72156849-T-TA	c.1128dup	p.N377*	Nonsense	12/18	-	1
8-72156856-AT-A	c.1122del	p.L374Ffs*6	Frameshift	12/18	-	1
8-72156856-T-A	c.1122A>T	p.L374F	Missense	12/18	-	1
8-72156856-T-G	c.1122A>C	p.L374F	Missense	12/18	-	1
8-72156858-A-G	c.1120T>C	p.L374=	Synonymous	12/18	-	1
8-72156861-G-A	c.1117C>T	p.H373Y	Missense	12/18	-	3
8-72156863-G-A	c.1115C>T	p.T372I	Missense	12/18	-	1
8-72156868-T-A	c.1110A>T	p.A370=	Synonymous	12/18	-	1
8-72156868-T-C	c.1110A>G	p.A370=	Synonymous	12/18	-	1
8-72156868-T-G	c.1110A>C	p.A370=	Synonymous	12/18	-	1
8-72156869-G-A	c.1109C>T	p.A370V	Missense	12/18	-	1
8-72156870-C-A	c.1108G>T	p.A370S	Missense	12/18	-	1
8-72156871-C-A	c.1107G>T	p.L369F	Missense	12/18	-	1
8-72156871-C-T	c.1107G>A	p.L369=	Synonymous	12/18	-	1
8-72156873-A-G	c.1105T>C	p.L369=	Synonymous	12/18	-	1
8-72156875-T-C	c.1103A>G	p.N368S	Missense	12/18	-	7
8-72156876-T-C	c.1102A>G	p.N368D	Missense	12/18	-	1
8-72156882-T-G	c.1096A>C	p.I366L	Missense	12/18	-	1
8-72156883-C-A	c.1095G>T	p.M365I	Missense	12/18	-	2
8-72156883-CA-GC	c.1094_1095delinsGC	p.M365S	Missense	12/18	-	1
8-72156883-C-G	c.1095G>C	p.M365I	Missense	12/18	-	2
8-72156883-C-T	c.1095G>A	p.M365I	Missense	12/18	-	5
8-72156886-T-C	c.1092A>G	p.E364=	Synonymous	12/18	-	2
8-72156886-T-G	c.1092A>C	p.E364D	Missense	12/18	-	1
8-72156888-C-A	c.1090G>T	p.E364*	Nonsense	12/18	-	1
8-72156890-T-A	c.1088A>T	p.E363V	Missense	12/18	-	3
8-72156891-C-G	c.1087G>C	p.E363Q	Missense	12/18	-	1
8-72156891-C-T	c.1087G>A	p.E363K	Missense	12/18	-	5
8-72156896-C-A	c.1082G>T	p.R361L	Missense	12/18	-	5
8-72156896-C-T	c.1082G>A	p.R361Q	Missense	12/18	-	9
8-72156897-G-A	c.1081C>T	p.R361*	Nonsense	12/18	-	4
8-72156897-G-T	c.1081C>A	p.R361=	Synonymous	12/18	-	1
8-72156900-G-A	c.1078C>T	p.L360=	Synonymous	12/18	-	1
8-72156900-G-T	c.1078C>A	p.L360M	Missense	12/18	-	1
8-72156907-G-A	c.1071C>T	p.S357=	Synonymous	12/18	-	4
8-72156907-G-C	c.1071C>G	p.S357=	Synonymous	12/18	-	1
8-72156907-G-T	c.1071C>A	p.S357=	Synonymous	12/18	-	1
8-72156908-G-A	c.1070C>T	p.S357F	Missense	12/18	-	2
8-72156910-A-C	c.1068T>G	p.V356=	Synonymous	12/18	-	1
8-72156910-A-G	c.1068T>C	p.V356=	Synonymous	12/18	-	1
8-72156910-A-T	c.1068T>A	p.V356=	Synonymous	12/18	-	1
8-72156914-G-A	c.1064C>T	p.S355L	Missense	12/18	-	1
8-72156920-G-T	c.1058C>A	p.P353H	Missense	12/18	-	1
8-72156923-G-GC	c.1054_1055insG	p.P352Rfs*26	Frameshift	12/18	-	1
8-72156924-G-A	c.1054C>T	p.P352S	Missense	12/18	-	1
8-72156924-G-T	c.1054C>A	p.P352T	Missense	12/18	-	4
8-72156927-C-A	c.1051G>T	p.D351Y	Missense	12/18	-	2
8-72172192-G-A	c.1050+9783C>T	-	IntronicSNV	-	11/17	1
8-72174414-T-C	c.1050+7561A>G	-	IntronicSNV	-	11/17	1
8-72176989-T-A	c.1050+4986A>T	-	IntronicSNV	-	11/17	1
8-72176989-T-C	c.1050+4986A>G	-	IntronicSNV	-	11/17	1
8-72176988-AT-A	c.1050+4986del	-	IntronicDeletion	-	11/17	1
8-72181393-G-T	c.1050+582C>A	-	IntronicSNV	-	11/17	1
8-72181862-C-T	c.1050+113G>A	-	IntronicSNV	-	11/17	5
8-72181868-T-C	c.1050+107A>G	-	IntronicSNV	-	11/17	4
8-72181972-C-A	c.1050+3G>T	-	IntronicSNV	-	11/17	1
8-72181973-A-G	c.1050+2T>C	-	IntronicSNV	-	11/17	1
8-72181974-C-A	c.1050+1G>T	-	IntronicSNV	-	11/17	1
8-72181974-C-G	c.1050+1G>C	-	IntronicSNV	-	11/17	1
8-72181978-C-T	c.1047G>A	p.G349=	Synonymous	11/18	-	1
8-72181979-C-A	c.1046G>T	p.G349V	Missense	11/18	-	1
8-72181980-C-A	c.1045G>T	p.G349W	Missense	11/18	-	1
8-72181985-C-G	c.1040G>C	p.R347T	Missense	11/18	-	1
8-72181985-C-T	c.1040G>A	p.R347K	Missense	11/18	-	2
8-72181986-T-C	c.1039A>G	p.R347G	Missense	11/18	-	1
8-72181992-C-T	c.1033G>A	p.A345T	Missense	11/18	-	2
8-72181993-G-A	c.1032C>T	p.Y344=	Synonymous	11/18	-	3
8-72181996-G-A	c.1029C>T	p.S343=	Synonymous	11/18	-	1
8-72181996-G-C	c.1029C>G	p.S343=	Synonymous	11/18	-	1
8-72181996-G-T	c.1029C>A	p.S343=	Synonymous	11/18	-	1
8-72181997-G-C	c.1028C>G	p.S343C	Missense	11/18	-	2
8-72181997-G-T	c.1028C>A	p.S343Y	Missense	11/18	-	2
8-72182001-C-A	c.1024G>T	p.G342W	Missense	11/18	-	3
8-72182002-A-C	c.1023T>G	p.T341=	Synonymous	11/18	-	1
8-72182003-G-A	c.1022C>T	p.T341I	Missense	11/18	-	2
8-72182004-T-C	c.1021A>G	p.T341A	Missense	11/18	-	1
8-72182008-C-T	c.1017G>A	p.L339=	Synonymous	11/18	-	1
8-72182012-G-A	c.1013C>T	p.S338F	Missense	11/18	-	2
8-72182012-G-T	c.1013C>A	p.S338Y	Missense	11/18	-	2
8-72182014-G-A	c.1011C>T	p.H337=	Synonymous	11/18	-	3
8-72182016-G-A	c.1009C>T	p.H337Y	Missense	11/18	-	5
8-72182017-G-A	c.1008C>T	p.F336=	Synonymous	11/18	-	3
8-72182028-T-C	c.997A>G	p.I333V	Missense	11/18	-	1
8-72182031-T-C	c.994A>G	p.T332A	Missense	11/18	-	2
8-72182034-C-A	c.991G>T	p.E331*	Nonsense	11/18	-	1
8-72182036-T-C	c.989A>G	p.D330G	Missense	11/18	-	1
8-72182037-C-A	c.988G>T	p.D330Y	Missense	11/18	-	1
8-72182037-C-T	c.988G>A	p.D330N	Missense	11/18	-	2
8-72182038-C-T	c.987G>A	p.L329=	Synonymous	11/18	-	2
8-72182042-T-G	c.983A>C	p.D328A	Missense	11/18	-	1
8-72182043-C-T	c.982G>A	p.D328N	Missense	11/18	-	2
8-72182044-C-T	c.981G>A	p.W327*	Nonsense	11/18	-	2
8-72182045-C-T	c.980G>A	p.W327*	Nonsense	11/18	-	1
8-72182046-A-C	c.979T>G	p.W327G	Missense	11/18	-	1
8-72182046-A-G	c.979T>C	p.W327R	Missense	11/18	-	2
8-72182047-G-A	c.978C>T	p.I326=	Synonymous	11/18	-	2
8-72182047-G-C	c.978C>G	p.I326M	Missense	11/18	-	1
8-72182048-A-T	c.977T>A	p.I326N	Missense	11/18	-	2
8-72182051-A-C	c.974T>G	p.F325C	Missense	11/18	-	2
8-72182051-A-G	c.974T>C	p.F325S	Missense	11/18	-	2
8-72182052-A-G	c.973T>C	p.F325L	Missense	11/18	-	1
8-72182053-C-A	c.972G>T	p.V324=	Synonymous	11/18	-	1
8-72182053-C-G	c.972G>C	p.V324=	Synonymous	11/18	-	1
8-72182053-C-T	c.972G>A	p.V324=	Synonymous	11/18	-	1
8-72182054-A-G	c.971T>C	p.V324A	Missense	11/18	-	1
8-72182055-C-G	c.970G>C	p.V324L	Missense	11/18	-	1
8-72182055-C-T	c.970G>A	p.V324M	Missense	11/18	-	1
8-72182056-TCT-ATG	c.967_969delinsCAT	p.R323H	Missense	11/18	-	1
8-72182058-T-A	c.967A>T	p.R323*	Nonsense	11/18	-	2
8-72182384-A-G	c.967-326T>C	-	IntronicSNV	-	10/17	1
8-72182438-C-T	c.967-380G>A	-	IntronicSNV	-	10/17	2
8-72183963-C-A	c.966+30G>T	-	IntronicSNV	-	10/17	1
8-72183989-G-A	c.966+4C>T	-	IntronicSNV	-	10/17	1
8-72183991-A-C	c.966+2T>G	-	IntronicSNV	-	10/17	1
8-72183992-C-G	c.966+1G>C	-	IntronicSNV	-	10/17	1
8-72183992-C-T	c.966+1G>A	-	IntronicSNV	-	10/17	1
8-72183994-T-C	c.965A>G	p.E322G	Missense	10/18	-	4
8-72183995-C-G	c.964G>C	p.E322Q	Missense	10/18	-	2
8-72183998-G-A	c.961C>T	p.L321F	Missense	10/18	-	1
8-72183999-A-C	c.960T>G	p.D320E	Missense	10/18	-	1
8-72183999-A-T	c.960T>A	p.D320E	Missense	10/18	-	1
8-72184001-C-G	c.958G>C	p.D320H	Missense	10/18	-	1
8-72184002-A-G	c.957T>C	p.S319=	Synonymous	10/18	-	1
8-72184003-G-A	c.956C>T	p.S319F	Missense	10/18	-	1
8-72184007-C-A	c.952G>T	p.D318Y	Missense	10/18	-	1
8-72184007-C-T	c.952G>A	p.D318N	Missense	10/18	-	6
8-72184009-G-T	c.950C>A	p.P317Q	Missense	10/18	-	2
8-72184010-G-A	c.949C>T	p.P317S	Missense	10/18	-	3
8-72184011-G-A	c.948C>T	p.P316=	Synonymous	10/18	-	2
8-72184013-G-A	c.946C>T	p.P316S	Missense	10/18	-	7
8-72184015-G-A	c.944C>T	p.P315L	Missense	10/18	-	1
8-72184018-G-A	c.941C>T	p.S314L	Missense	10/18	-	2
8-72184021-G-A	c.938C>T	p.P313L	Missense	10/18	-	4
8-72184022-G-A	c.937C>T	p.P313S	Missense	10/18	-	1
8-72184023-A-C	c.936T>G	p.N312K	Missense	10/18	-	2
8-72184023-A-T	c.936T>A	p.N312K	Missense	10/18	-	3
8-72184024-T-A	c.935A>T	p.N312I	Missense	10/18	-	3
8-72184029-G-T	c.930C>A	p.N310K	Missense	10/18	-	2
8-72184031-T-C	c.928A>G	p.N310D	Missense	10/18	-	1
8-72184033-C-T	c.926G>A	p.R309K	Missense	10/18	-	2
8-72184034-T-C	c.925A>G	p.R309G	Missense	10/18	-	1
8-72184036-CG-TT	c.922_923delinsAA	p.R308K	Missense	10/18	-	1
8-72184036-C-T	c.923G>A	p.R308Q	Missense	10/18	-	8
8-72184037-G-A	c.922C>T	p.R308*	Nonsense	10/18	-	3
8-72184037-G-C	c.922C>G	p.R308G	Missense	10/18	-	1
8-72184039-C-T	c.920G>A	p.G307D	Missense	10/18	-	1
8-72184041-C-A	c.918G>T	p.R306=	Synonymous	10/18	-	1
8-72184042-C-A	c.917G>T	p.R306L	Missense	10/18	-	1
8-72184042-CG-GT	c.916_917delinsAC	p.R306T	Missense	10/18	-	1
8-72184042-C-T	c.917G>A	p.R306Q	Missense	10/18	-	4
8-72184043-G-A	c.916C>T	p.R306W	Missense	10/18	-	4
8-72184047-ACG-CTT	c.910_912delinsAAG	p.R304K	Missense	10/18	-	2
8-72184048-C-T	c.911G>A	p.R304H	Missense	10/18	-	1
8-72184049-G-A	c.910C>T	p.R304C	Missense	10/18	-	2
8-72184051-G-A	c.908C>T	p.S303L	Missense	10/18	-	3
8-72184051-GA-CC	c.907_908delinsGG	p.S303G	Missense	10/18	-	1
8-72184054-T-C	c.905A>G	p.K302R	Missense	10/18	-	1
8-72184055-T-G	c.904A>C	p.K302Q	Missense	10/18	-	3
8-72184056-C-T	c.903G>A	p.G301=	Synonymous	10/18	-	4
8-72184057-C-T	c.902G>A	p.G301E	Missense	10/18	-	1
8-72184058-C-A	c.901G>T	p.G301W	Missense	10/18	-	8
8-72184061-C-G	c.898G>C	p.D300H	Missense	10/18	-	1
8-72184063-G-A	c.896C>T	p.S299L	Missense	10/18	-	1
8-72184066-C-T	c.893G>A	p.G298D	Missense	10/18	-	1
8-72184067-C-A	c.892G>T	p.G298C	Missense	10/18	-	1
8-72184067-C-T	c.892G>A	p.G298S	Missense	10/18	-	1
8-72184069-C-A	c.890G>T	p.R297L	Missense	10/18	-	1
8-72184069-CG-TT	c.889_890delinsAA	p.R297K	Missense	10/18	-	1
8-72184069-C-T	c.890G>A	p.R297Q	Missense	10/18	-	6
8-72184070-G-A	c.889C>T	p.R297*	Nonsense	10/18	-	4
8-72184070-G-C	c.889C>G	p.R297G	Missense	10/18	-	1
8-72184071-AC-TT	c.887_888delinsAA	p.R296Q	Missense	10/18	-	2
8-72184072-C-T	c.887G>A	p.R296H	Missense	10/18	-	4
8-72184073-G-A	c.886C>T	p.R296C	Missense	10/18	-	4
8-72184075-A-C	c.884T>G	p.L295W	Missense	10/18	-	5
8-72184075-A-G	c.884T>C	p.L295S	Missense	10/18	-	5
8-72184077-T-C	c.882A>G	p.R294=	Synonymous	10/18	-	2
8-72184077-TCG-CCA	c.880_882delinsTGG	p.R294W	Missense	10/18	-	1
8-72184078-C-T	c.881G>A	p.R294Q	Missense	10/18	-	5
8-72184079-G-A	c.880C>T	p.R294*	Nonsense	10/18	-	4
8-72184079-G-C	c.880C>G	p.R294G	Missense	10/18	-	1
8-72184084-G-A	c.875C>T	p.S292F	Missense	10/18	-	4
8-72184084-G-C	c.875C>G	p.S292C	Missense	10/18	-	1
8-72184084-G-T	c.875C>A	p.S292Y	Missense	10/18	-	1
8-72184088-C-G	c.871G>C	p.D291H	Missense	10/18	-	1
8-72184088-C-T	c.871G>A	p.D291N	Missense	10/18	-	2
8-72184089-T-A	c.870A>T	p.S290=	Synonymous	10/18	-	1
8-72184089-T-C	c.870A>G	p.S290=	Synonymous	10/18	-	1
8-72184089-T-G	c.870A>C	p.S290=	Synonymous	10/18	-	1
8-72184092-A-G	c.867T>C	p.D289=	Synonymous	10/18	-	1
8-72184094-C-A	c.865G>T	p.D289Y	Missense	10/18	-	3
8-72184094-C-G	c.865G>C	p.D289H	Missense	10/18	-	2
8-72184095-T-G	c.864A>C	p.K288N	Missense	10/18	-	1
8-72184096-T-C	c.863A>G	p.K288R	Missense	10/18	-	4
8-72184096-T-G	c.863A>C	p.K288T	Missense	10/18	-	1
8-72184099-A-G	c.860T>C	p.I287T	Missense	10/18	-	1
8-72184100-T-A	c.859A>T	p.I287F	Missense	10/18	-	1
8-72184101-G-T	c.858C>A	p.P286=	Synonymous	10/18	-	2
8-72184102-G-A	c.857C>T	p.P286L	Missense	10/18	-	1
8-72184100-TG-T	c.858del	p.I287Lfs*79	Frameshift	10/18	-	1
8-72184103-G-A	c.856C>T	p.P286S	Missense	10/18	-	1
8-72184106-T-A	c.853A>T	p.T285S	Missense	10/18	-	1
8-72184106-T-C	c.853A>G	p.T285A	Missense	10/18	-	1
8-72184108-G-C	c.851C>G	p.S284*	Nonsense	10/18	-	2
8-72184108-G-T	c.851C>A	p.S284*	Nonsense	10/18	-	2
8-72184110-T-A	c.849A>T	p.P283=	Synonymous	10/18	-	1
8-72184110-T-C	c.849A>G	p.P283=	Synonymous	10/18	-	1
8-72184110-T-G	c.849A>C	p.P283=	Synonymous	10/18	-	1
8-72184111-G-A	c.848C>T	p.P283L	Missense	10/18	-	3
8-72184114-CT-AG	c.844_845inv	p.S282L	Missense	10/18	-	1
8-72184118-G-C	c.841C>G	p.H281D	Missense	10/18	-	1
8-72184117-TG-T	c.841del	p.H281Tfs*85	Frameshift	10/18	-	1
8-72184119-G-A	c.840C>T	p.I280=	Synonymous	10/18	-	1
8-72184119-G-T	c.840C>A	p.I280=	Synonymous	10/18	-	2
8-72184122-T-A	c.837A>T	p.T279=	Synonymous	10/18	-	1
8-72184122-T-C	c.837A>G	p.T279=	Synonymous	10/18	-	2
8-72184122-T-G	c.837A>C	p.T279=	Synonymous	10/18	-	1
8-72184123-G-T	c.836C>A	p.T279K	Missense	10/18	-	3
8-72184125-G-C	c.834C>G	p.S278R	Missense	10/18	-	2
8-72184126-C-T	c.833G>A	p.S278N	Missense	10/18	-	1
8-72184127-T-C	c.832A>G	p.S278G	Missense	10/18	-	1
8-72184129-T-C	c.830A>G	p.Y277C	Missense	10/18	-	1
8-72184130-A-T	c.829T>A	p.Y277N	Missense	10/18	-	1
8-72184509-T-A	c.827-377A>T	-	IntronicSNV	-	9/17	3
8-72184509-T-C	c.827-377A>G	-	IntronicSNV	-	9/17	3
8-72184898-G-A	c.827-766C>T	-	IntronicSNV	-	9/17	1
8-72185924-C-A	c.827-1792G>T	-	IntronicSNV	-	9/17	1
8-72185924-C-T	c.827-1792G>A	-	IntronicSNV	-	9/17	1
8-72195318-A-G	c.827-11186T>C	-	IntronicSNV	-	9/17	1
8-72195318-A-T	c.827-11186T>A	-	IntronicSNV	-	9/17	1
8-72195560-C-T	c.827-11428G>A	-	IntronicSNV	-	9/17	1
8-72197916-C-A	c.826+13366G>T	-	IntronicSNV	-	9/17	1
8-72199365-GA-G	c.826+11916del	-	IntronicDeletion	-	9/17	1
8-72202549-C-T	c.826+8733G>A	-	IntronicSNV	-	9/17	1
8-72205657-TGTAATTC-T	c.826+5619_826+5625del	-	IntronicDeletion	-	9/17	1
8-72211178-G-A	c.826+104C>T	-	IntronicSNV	-	9/17	1
8-72211281-C-T	c.826+1G>A	-	IntronicSNV	-	9/17	1
8-72211282-C-T	c.826G>A	p.E276K	Missense	9/18	-	1
8-72211291-G-A	c.817C>T	p.P273S	Missense	9/18	-	2
8-72211293-T-C	c.815A>G	p.D272G	Missense	9/18	-	1
8-72211294-C-A	c.814G>T	p.D272Y	Missense	9/18	-	2
8-72211295-T-A	c.813A>T	p.T271=	Synonymous	9/18	-	1
8-72211295-T-C	c.813A>G	p.T271=	Synonymous	9/18	-	22
8-72211295-T-G	c.813A>C	p.T271=	Synonymous	9/18	-	1
8-72211296-G-A	c.812C>T	p.T271I	Missense	9/18	-	2
8-72211296-G-C	c.812C>G	p.T271R	Missense	9/18	-	3
8-72211299-A-G	c.809T>C	p.V270A	Missense	9/18	-	1
8-72211301-T-G	c.807A>C	p.A269=	Synonymous	9/18	-	1
8-72211302-G-T	c.806C>A	p.A269E	Missense	9/18	-	2
8-72211306-G-T	c.802C>A	p.Q268K	Missense	9/18	-	1
8-72211307-G-C	c.801C>G	p.S267R	Missense	9/18	-	1
8-72211309-T-C	c.799A>G	p.S267G	Missense	9/18	-	1
8-72211310-G-A	c.798C>T	p.T266=	Synonymous	9/18	-	5
8-72211310-G-C	c.798C>G	p.T266=	Synonymous	9/18	-	5
8-72211310-G-T	c.798C>A	p.T266=	Synonymous	9/18	-	5
8-72211311-G-T	c.797C>A	p.T266N	Missense	9/18	-	1
8-72211313-G-A	c.795C>T	p.I265=	Synonymous	9/18	-	1
8-72211314-A-G	c.794T>C	p.I265T	Missense	9/18	-	1
8-72211317-C-A	c.791G>T	p.G264V	Missense	9/18	-	1
8-72211317-C-T	c.791G>A	p.G264D	Missense	9/18	-	2
8-72211322-T-A	c.786A>T	p.P262=	Synonymous	9/18	-	2
8-72211322-T-C	c.786A>G	p.P262=	Synonymous	9/18	-	2
8-72211322-T-G	c.786A>C	p.P262=	Synonymous	9/18	-	2
8-72211324-G-T	c.784C>A	p.P262T	Missense	9/18	-	1
8-72211325-C-T	c.783G>A	p.P261=	Synonymous	9/18	-	1
8-72211326-G-A	c.782C>T	p.P261L	Missense	9/18	-	7
8-72211326-G-T	c.782C>A	p.P261Q	Missense	9/18	-	2
8-72211327-G-C	c.781C>G	p.P261A	Missense	9/18	-	2
8-72211327-G-T	c.781C>A	p.P261T	Missense	9/18	-	1
8-72211329-T-A	c.779A>T	p.E260V	Missense	9/18	-	1
8-72211333-G-A	c.775C>T	p.Q259*	Nonsense	9/18	-	1
8-72211333-G-C	c.775C>G	p.Q259E	Missense	9/18	-	6
8-72211336-G-C	c.772C>G	p.L258V	Missense	9/18	-	1
8-72211337-C-G	c.771G>C	p.Q257H	Missense	9/18	-	4
8-72211339-G-C	c.769C>G	p.Q257E	Missense	9/18	-	1
8-72211338-TG-T	c.769del	p.Q257Sfs*109	Frameshift	9/18	-	2
8-72211340-G-T	c.768C>A	p.Y256*	Nonsense	9/18	-	1
8-72211341-TA-T	c.766del	p.Y256Tfs*110	Frameshift	9/18	-	1
8-72211344-G-T	c.764C>A	p.T255N	Missense	9/18	-	1
8-72211348-C-T	c.760G>A	p.A254T	Missense	9/18	-	1
8-72211350-T-C	c.758A>G	p.N253S	Missense	9/18	-	1
8-72211352-G-A	c.756C>T	p.T252=	Synonymous	9/18	-	3
8-72211352-G-T	c.756C>A	p.T252=	Synonymous	9/18	-	1
8-72211353-G-A	c.755C>T	p.T252I	Missense	9/18	-	3
8-72211354-GT-G	c.754del	p.T252Pfs*114	Frameshift	9/18	-	2
8-72211354-T-G	c.754A>C	p.T252P	Missense	9/18	-	1
8-72211355-G-A	c.753C>T	p.S251=	Synonymous	9/18	-	3
8-72211356-G-A	c.752C>T	p.S251F	Missense	9/18	-	5
8-72211357-GA-G	c.751del	p.S251Pfs*115	Frameshift	9/18	-	2
8-72211362-G-T	c.746C>A	p.T249K	Missense	9/18	-	2
8-72211364-CG-GA	c.743_744delinsTC	p.T248I	Missense	9/18	-	1
8-72211364-C-T	c.744G>A	p.T248=	Synonymous	9/18	-	2
8-72211365-G-A	c.743C>T	p.T248M	Missense	9/18	-	6
8-72211366-T-C	c.742A>G	p.T248A	Missense	9/18	-	3
8-72211368-G-A	c.740C>T	p.P247L	Missense	9/18	-	1
8-72211369-G-T	c.739C>A	p.P247T	Missense	9/18	-	3
8-72211371-C-G	c.737G>C	p.S246T	Missense	9/18	-	2
8-72211378-T-C	c.730A>G	p.N244D	Missense	9/18	-	1
8-72211380-C-A	c.728G>T	p.S243I	Missense	9/18	-	1
8-72211380-C-T	c.728G>A	p.S243N	Missense	9/18	-	1
8-72211382-G-A	c.726C>T	p.S242=	Synonymous	9/18	-	1
8-72211383-C-T	c.725G>A	p.S242N	Missense	9/18	-	1
8-72211384-T-C	c.724A>G	p.S242G	Missense	9/18	-	7
8-72211385-G-A	c.723C>T	p.T241=	Synonymous	9/18	-	1
8-72211385-G-C	c.723C>G	p.T241=	Synonymous	9/18	-	1
8-72211385-G-T	c.723C>A	p.T241=	Synonymous	9/18	-	1
8-72211386-G-A	c.722C>T	p.T241I	Missense	9/18	-	1
8-72211388-C-A	c.720G>T	p.M240I	Missense	9/18	-	1
8-72211388-C-G	c.720G>C	p.M240I	Missense	9/18	-	1
8-72211388-C-T	c.720G>A	p.M240I	Missense	9/18	-	2
8-72211390-T-C	c.718A>G	p.M240V	Missense	9/18	-	1
8-72211392-T-A	c.716A>T	p.Y239F	Missense	9/18	-	1
8-72211392-T-C	c.716A>G	p.Y239C	Missense	9/18	-	1
8-72211394-A-T	c.714T>A	p.H238Q	Missense	9/18	-	4
8-72211395-T-C	c.713A>G	p.H238R	Missense	9/18	-	1
8-72211398-G-A	c.710C>T	p.A237V	Missense	9/18	-	2
8-72211398-G-T	c.710C>A	p.A237E	Missense	9/18	-	1
8-72211399-C-A	c.709G>T	p.A237S	Missense	9/18	-	1
8-72211401-G-A	c.707C>T	p.P236L	Missense	9/18	-	1
8-72211402-G-A	c.706C>T	p.P236S	Missense	9/18	-	1
8-72211406-C-A	c.702G>T	p.P234=	Synonymous	9/18	-	1
8-72211407-G-A	c.701C>T	p.P234L	Missense	9/18	-	3
8-72211410-G-A	c.698C>T	p.S233L	Missense	9/18	-	1
8-72211410-G-T	c.698C>A	p.S233*	Nonsense	9/18	-	1
8-72211416-T-C	c.692A>G	p.N231S	Missense	9/18	-	1
8-72211423-A-G	c.685T>C	p.Y229H	Missense	9/18	-	3
8-72211423-A-T	c.685T>A	p.Y229N	Missense	9/18	-	5
8-72211426-G-A	c.682C>T	p.Q228*	Nonsense	9/18	-	1
8-72211428-G-T	c.680C>A	p.A227E	Missense	9/18	-	1
8-72211429-C-G	c.679G>C	p.A227P	Missense	9/18	-	1
8-72211429-C-T	c.679G>A	p.A227T	Missense	9/18	-	3
8-72211430-G-A	c.678C>T	p.Y226=	Synonymous	9/18	-	3
8-72211430-G-C	c.678C>G	p.Y226*	Nonsense	9/18	-	1
8-72211430-G-T	c.678C>A	p.Y226*	Nonsense	9/18	-	1
8-72211435-G-C	c.673C>G	p.Q225E	Missense	9/18	-	5
8-72211436-A-C	c.672T>G	p.G224=	Synonymous	9/18	-	1
8-72211436-A-G	c.672T>C	p.G224=	Synonymous	9/18	-	1
8-72211436-A-T	c.672T>A	p.G224=	Synonymous	9/18	-	1
8-72211437-C-A	c.671G>T	p.G224V	Missense	9/18	-	6
8-72211436-AC-A	c.671del	p.G224Vfs*17	Frameshift	9/18	-	2
8-72211440-T-C	c.668A>G	p.Q223R	Missense	9/18	-	2
8-72211440-TG-T	c.667del	p.Q223Rfs*18	Frameshift	9/18	-	1
8-72211444-C-A	c.664G>T	p.G222C	Missense	9/18	-	1
8-72211447-A-T	c.661T>A	p.F221I	Missense	9/18	-	1
8-72211450-CTGG-C	c.656_658del	p.P219_S220delinsR	MultiAAMissense	9/18	-	1
8-72211450-T-C	c.658A>G	p.S220G	Missense	9/18	-	1
8-72211452-G-A	c.656C>T	p.P219L	Missense	9/18	-	2
8-72211453-G-A	c.655C>T	p.P219S	Missense	9/18	-	2
8-72211453-G-T	c.655C>A	p.P219T	Missense	9/18	-	3
8-72211458-G-A	c.650C>T	p.S217F	Missense	9/18	-	2
8-72211461-G-A	c.647C>T	p.P216L	Missense	9/18	-	7
8-72211461-G-C	c.647C>G	p.P216R	Missense	9/18	-	1
8-72211462-G-A	c.646C>T	p.P216S	Missense	9/18	-	5
8-72211468-C-G	c.640G>C	p.D214H	Missense	9/18	-	1
8-72211468-C-T	c.640G>A	p.D214N	Missense	9/18	-	1
8-72211834-A-C	c.639+39T>G	-	IntronicSNV	-	8/17	14
8-72211866-AAATT-A	c.639+3_639+6del	-	IntronicDeletion	-	8/17	1
8-72211870-T-A	c.639+3A>T	-	IntronicSNV	-	8/17	1
8-72211873-C-G	c.639G>C	p.Q213H	Missense	8/18	-	1
8-72211874-T-A	c.638A>T	p.Q213L	Missense	8/18	-	1
8-72211875-G-A	c.637C>T	p.Q213*	Nonsense	8/18	-	2
8-72211876-C-A	c.636G>T	p.Q212H	Missense	8/18	-	1
8-72211876-C-G	c.636G>C	p.Q212H	Missense	8/18	-	1
8-72211878-G-A	c.634C>T	p.Q212*	Nonsense	8/18	-	3
8-72211879-T-C	c.633A>G	p.S211=	Synonymous	8/18	-	1
8-72211880-G-A	c.632C>T	p.S211L	Missense	8/18	-	3
8-72211880-G-C	c.632C>G	p.S211*	Nonsense	8/18	-	1
8-72211882-A-G	c.630T>C	p.S210=	Synonymous	8/18	-	1
8-72211883-C-A	c.629G>T	p.S210I	Missense	8/18	-	1
8-72211886-T-C	c.626A>G	p.N209S	Missense	8/18	-	8
8-72211887-T-C	c.625A>G	p.N209D	Missense	8/18	-	2
8-72211888-A-G	c.624T>C	p.F208=	Synonymous	8/18	-	4
8-72211891-T-A	c.621A>T	p.G207=	Synonymous	8/18	-	1
8-72211891-T-C	c.621A>G	p.G207=	Synonymous	8/18	-	1
8-72211891-T-G	c.621A>C	p.G207=	Synonymous	8/18	-	1
8-72211895-G-A	c.617C>T	p.S206F	Missense	8/18	-	4
8-72211898-G-A	c.614C>T	p.S205F	Missense	8/18	-	6
8-72211901-T-C	c.611A>G	p.N204S	Missense	8/18	-	2
8-72211904-G-A	c.608C>T	p.T203I	Missense	8/18	-	1
8-72211904-G-T	c.608C>A	p.T203K	Missense	8/18	-	2
8-72211905-T-C	c.607A>G	p.T203A	Missense	8/18	-	1
8-72211907-A-G	c.605T>C	p.L202P	Missense	8/18	-	2
8-72211908-G-A	c.604C>T	p.L202F	Missense	8/18	-	2
8-72211908-G-C	c.604C>G	p.L202V	Missense	8/18	-	1
8-72211911-A-C	c.601T>G	p.S201A	Missense	8/18	-	1
8-72211912-A-T	c.600T>A	p.N200K	Missense	8/18	-	1
8-72211914-T-A	c.598A>T	p.N200Y	Missense	8/18	-	1
8-72211916-T-A	c.596A>T	p.N199I	Missense	8/18	-	2
8-72211919-C-T	c.593G>A	p.G198E	Missense	8/18	-	6
8-72211918-TC-T	c.593del	p.G198Efs*43	Frameshift	8/18	-	1
8-72211922-G-A	c.590C>T	p.T197I	Missense	8/18	-	1
8-72211924-A-C	c.588T>G	p.Y196*	Nonsense	8/18	-	1
8-72211924-A-T	c.588T>A	p.Y196*	Nonsense	8/18	-	1
8-72211927-T-A	c.585A>T	p.I195=	Synonymous	8/18	-	1
8-72211927-T-C	c.585A>G	p.I195M	Missense	8/18	-	2
8-72211931-C-T	c.581G>A	p.G194E	Missense	8/18	-	8
8-72211932-C-T	c.580G>A	p.G194R	Missense	8/18	-	6
8-72211933-T-C	c.579A>G	p.S193=	Synonymous	8/18	-	1
8-72211934-G-A	c.578C>T	p.S193L	Missense	8/18	-	1
8-72211936-T-A	c.576A>T	p.S192=	Synonymous	8/18	-	1
8-72211936-T-C	c.576A>G	p.S192=	Synonymous	8/18	-	1
8-72211936-T-G	c.576A>C	p.S192=	Synonymous	8/18	-	1
8-72211938-A-G	c.574T>C	p.S192P	Missense	8/18	-	1
8-72211939-T-A	c.573A>T	p.T191=	Synonymous	8/18	-	2
8-72211939-T-C	c.573A>G	p.T191=	Synonymous	8/18	-	1
8-72211939-T-G	c.573A>C	p.T191=	Synonymous	8/18	-	1
8-72211942-T-C	c.570A>G	p.T190=	Synonymous	8/18	-	1
8-72211943-G-T	c.569C>A	p.T190K	Missense	8/18	-	1
8-72211952-C-T	c.560G>A	p.S187N	Missense	8/18	-	1
8-72214807-T-C	c.557-2852A>G	-	IntronicSNV	-	7/17	1
8-72216430-T-C	c.557-4475A>G	-	IntronicSNV	-	7/17	1
8-72218780-G-A	c.557-6825C>T	-	IntronicSNV	-	7/17	1
8-72221496-G-C	c.556+8291C>G	-	IntronicSNV	-	7/17	1
8-72221849-T-A	c.556+7938A>T	-	IntronicSNV	-	7/17	1
8-72227968-A-C	c.556+1819T>G	-	IntronicSNV	-	7/17	1
8-72228780-C-T	c.556+1007G>A	-	IntronicSNV	-	7/17	1
8-72229709-A-T	c.556+78T>A	-	IntronicSNV	-	7/17	1
8-72229729-T-C	c.556+58A>G	-	IntronicSNV	-	7/17	1
8-72229753-G-T	c.556+34C>A	-	IntronicSNV	-	7/17	1
8-72229786-C-A	c.556+1G>T	-	IntronicSNV	-	7/17	1
8-72229790-G-A	c.553C>T	p.Q185*	Nonsense	7/18	-	1
8-72229791-C-A	c.552G>T	p.M184I	Missense	7/18	-	1
8-72229792-A-G	c.551T>C	p.M184T	Missense	7/18	-	1
8-72229795-CT-C	c.548del	p.Q183Rfs*58	Frameshift	7/18	-	1
8-72229795-T-A	c.548A>T	p.Q183L	Missense	7/18	-	2
8-72229795-T-C	c.548A>G	p.Q183R	Missense	7/18	-	2
8-72229797-G-C	c.546C>G	p.Y182*	Nonsense	7/18	-	1
8-72229798-T-A	c.545A>T	p.Y182F	Missense	7/18	-	2
8-72229799-A-G	c.544T>C	p.Y182H	Missense	7/18	-	1
8-72229801-C-T	c.542G>A	p.S181N	Missense	7/18	-	1
8-72229803-G-A	c.540C>T	p.Y180=	Synonymous	7/18	-	2
8-72229804-T-C	c.539A>G	p.Y180C	Missense	7/18	-	3
8-72229805-A-T	c.538T>A	p.Y180N	Missense	7/18	-	1
8-72229807-G-A	c.536C>T	p.P179L	Missense	7/18	-	2
8-72229808-G-A	c.535C>T	p.P179S	Missense	7/18	-	3
8-72229810-G-A	c.533C>T	p.A178V	Missense	7/18	-	2
8-72229810-G-C	c.533C>G	p.A178G	Missense	7/18	-	1
8-72229814-G-A	c.529C>T	p.Q177*	Nonsense	7/18	-	1
8-72229818-CA-C	c.525del	p.G176Dfs*65	Frameshift	7/18	-	1
8-72229819-G-C	c.524C>G	p.P175R	Missense	7/18	-	1
8-72229821-T-C	c.522A>G	p.Q174=	Synonymous	7/18	-	1
8-72229823-G-A	c.520C>T	p.Q174*	Nonsense	7/18	-	1
8-72229825-G-A	c.518C>T	p.P173L	Missense	7/18	-	1
8-72229826-G-A	c.517C>T	p.P173S	Missense	7/18	-	1
8-72229826-G-T	c.517C>A	p.P173T	Missense	7/18	-	1
8-72229828-G-A	c.515C>T	p.T172I	Missense	7/18	-	2
8-72229831-C-T	c.512G>A	p.S171N	Missense	7/18	-	1
8-72229834-A-G	c.509T>C	p.F170S	Missense	7/18	-	2
8-72229836-G-A	c.507C>T	p.S169=	Synonymous	7/18	-	2
8-72229840-G-T	c.503C>A	p.T168K	Missense	7/18	-	1
8-72229845-CATA-C	c.496_498del	p.Y166del	InFrameDeletion	7/18	-	1
8-72229846-T-C	c.497A>G	p.Y166C	Missense	7/18	-	1
8-72229848-G-A	c.495C>T	p.S165=	Synonymous	7/18	-	1
8-72229849-C-A	c.494G>T	p.S165I	Missense	7/18	-	1
8-72229851-G-A	c.492C>T	p.L164=	Synonymous	7/18	-	4
8-72229851-G-C	c.492C>G	p.L164=	Synonymous	7/18	-	1
8-72229851-G-T	c.492C>A	p.L164=	Synonymous	7/18	-	1
8-72229852-A-G	c.491T>C	p.L164P	Missense	7/18	-	1
8-72229853-G-A	c.490C>T	p.L164F	Missense	7/18	-	5
8-72229858-C-T	c.485G>A	p.G162E	Missense	7/18	-	5
8-72229859-C-T	c.484G>A	p.G162R	Missense	7/18	-	5
8-72229865-G-A	c.478C>T	p.Q160*	Nonsense	7/18	-	1
8-72229865-G-C	c.478C>G	p.Q160E	Missense	7/18	-	1
8-72229866-T-A	c.477A>T	p.G159=	Synonymous	7/18	-	3
8-72229868-C-G	c.475G>C	p.G159R	Missense	7/18	-	1
8-72229868-C-T	c.475G>A	p.G159R	Missense	7/18	-	2
8-72229870-G-A	c.473C>T	p.P158L	Missense	7/18	-	4
8-72229870-G-T	c.473C>A	p.P158H	Missense	7/18	-	1
8-72229871-G-A	c.472C>T	p.P158S	Missense	7/18	-	2
8-72229872-TG-AA	c.470_471delinsTT	p.S157F	Missense	7/18	-	1
8-72229873-G-A	c.470C>T	p.S157L	Missense	7/18	-	1
8-72229874-A-T	c.469T>A	p.S157T	Missense	7/18	-	1
8-72229875-C-T	c.468G>A	p.Q156=	Synonymous	7/18	-	2
8-72229877-G-A	c.466C>T	p.Q156*	Nonsense	7/18	-	3
8-72229880-A-C	c.463T>G	p.S155A	Missense	7/18	-	1
8-72229880-A-T	c.463T>A	p.S155T	Missense	7/18	-	1
8-72229889-A-G	c.454T>C	p.L152=	Synonymous	7/18	-	1
8-72229891-C-G	c.452G>C	p.G151A	Missense	7/18	-	1
8-72229891-C-T	c.452G>A	p.G151E	Missense	7/18	-	2
8-72229893-A-C	c.450T>G	p.G150=	Synonymous	7/18	-	1
8-72229893-A-G	c.450T>C	p.G150=	Synonymous	7/18	-	1
8-72229893-A-T	c.450T>A	p.G150=	Synonymous	7/18	-	2
8-72229895-C-A	c.448G>T	p.G150C	Missense	7/18	-	1
8-72229896-T-C	c.447A>G	p.E149=	Synonymous	7/18	-	3
8-72229900-G-A	c.443C>T	p.T148I	Missense	7/18	-	1
8-72229902-C-T	c.441G>A	p.K147=	Synonymous	7/18	-	1
8-72229906-A-T	c.437T>A	p.I146N	Missense	7/18	-	3
8-72229907-T-C	c.436A>G	p.I146V	Missense	7/18	-	2
8-72229909-C-A	c.434G>T	p.G145V	Missense	7/18	-	1
8-72229909-C-T	c.434G>A	p.G145D	Missense	7/18	-	1
8-72229910-C-T	c.433G>A	p.G145S	Missense	7/18	-	1
8-72229912-G-A	c.431C>T	p.A144V	Missense	7/18	-	2
8-72229912-G-T	c.431C>A	p.A144E	Missense	7/18	-	1
8-72229915-C-A	c.428G>T	p.W143L	Missense	7/18	-	2
8-72229916-A-G	c.427T>C	p.W143R	Missense	7/18	-	4
8-72229916-A-T	c.427T>A	p.W143R	Missense	7/18	-	3
8-72229917-C-A	c.426G>T	p.L142F	Missense	7/18	-	3
8-72229917-C-G	c.426G>C	p.L142F	Missense	7/18	-	3
8-72229923-A-C	c.420T>G	p.G140=	Synonymous	7/18	-	1
8-72229923-A-G	c.420T>C	p.G140=	Synonymous	7/18	-	2
8-72229923-A-T	c.420T>A	p.G140=	Synonymous	7/18	-	1
8-72233411-A-G	c.418+558T>C	-	IntronicSNV	-	6/17	1
8-72233576-T-C	c.418+393A>G	-	IntronicSNV	-	6/17	3
8-72233577-C-T	c.418+392G>A	-	IntronicSNV	-	6/17	1
8-72233689-C-A	c.418+280G>T	-	IntronicSNV	-	6/17	1
8-72233689-C-T	c.418+280G>A	-	IntronicSNV	-	6/17	1
8-72233744-A-G	c.418+225T>C	-	IntronicSNV	-	6/17	1
8-72233968-C-G	c.418+1G>C	-	IntronicSNV	-	6/17	1
8-72233969-C-T	c.418G>A	p.G140S	Missense	6/18	-	5
8-72233971-T-C	c.416A>G	p.Y139C	Missense	6/18	-	1
8-72233972-A-G	c.415T>C	p.Y139H	Missense	6/18	-	2
8-72233972-A-T	c.415T>A	p.Y139N	Missense	6/18	-	1
8-72233975-A-T	c.412T>A	p.S138T	Missense	6/18	-	1
8-72233976-G-A	c.411C>T	p.S137=	Synonymous	6/18	-	2
8-72233977-G-A	c.410C>T	p.S137F	Missense	6/18	-	4
8-72233977-G-C	c.410C>G	p.S137C	Missense	6/18	-	1
8-72233982-G-A	c.405C>T	p.G135=	Synonymous	6/18	-	1
8-72233982-G-C	c.405C>G	p.G135=	Synonymous	6/18	-	1
8-72233982-G-T	c.405C>A	p.G135=	Synonymous	6/18	-	2
8-72233983-C-T	c.404G>A	p.G135D	Missense	6/18	-	3
8-72233982-GC-G	c.404del	p.G135Afs*106	Frameshift	6/18	-	1
8-72233984-C-T	c.403G>A	p.G135S	Missense	6/18	-	6
8-72233985-G-A	c.402C>T	p.Y134=	Synonymous	6/18	-	3
8-72233989-G-A	c.398C>T	p.P133L	Missense	6/18	-	2
8-72233991-C-A	c.396G>T	p.Q132H	Missense	6/18	-	1
8-72233991-C-G	c.396G>C	p.Q132H	Missense	6/18	-	1
8-72233996-C-G	c.391G>C	p.G131R	Missense	6/18	-	1
8-72233996-C-T	c.391G>A	p.G131R	Missense	6/18	-	1
8-72233997-T-A	c.390A>T	p.P130=	Synonymous	6/18	-	1
8-72233997-T-C	c.390A>G	p.P130=	Synonymous	6/18	-	1
8-72233997-T-G	c.390A>C	p.P130=	Synonymous	6/18	-	1
8-72233998-G-A	c.389C>T	p.P130L	Missense	6/18	-	2
8-72234002-G-A	c.385C>T	p.Q129*	Nonsense	6/18	-	1
8-72234003-T-C	c.384A>G	p.P128=	Synonymous	6/18	-	1
8-72234003-T-G	c.384A>C	p.P128=	Synonymous	6/18	-	1
8-72234003-TGG-ACA	c.382_384delinsTGT	p.P128C	Missense	6/18	-	1
8-72234004-G-A	c.383C>T	p.P128L	Missense	6/18	-	2
8-72234006-G-T	c.381C>A	p.Y127*	Nonsense	6/18	-	1
8-72234007-T-C	c.380A>G	p.Y127C	Missense	6/18	-	1
8-72234009-C-T	c.378G>A	p.T126=	Synonymous	6/18	-	1
8-72234010-G-A	c.377C>T	p.T126M	Missense	6/18	-	2
8-72234010-G-C	c.377C>G	p.T126R	Missense	6/18	-	1
8-72234011-T-A	c.376A>T	p.T126S	Missense	6/18	-	2
8-72234014-C-T	c.373G>A	p.A125T	Missense	6/18	-	1
8-72234018-G-A	c.369C>T	p.A123=	Synonymous	6/18	-	1
8-72234018-G-C	c.369C>G	p.A123=	Synonymous	6/18	-	1
8-72234018-G-T	c.369C>A	p.A123=	Synonymous	6/18	-	2
8-72234022-G-C	c.365C>G	p.T122R	Missense	6/18	-	1
8-72234024-A-G	c.363T>C	p.A121=	Synonymous	6/18	-	3
8-72234025-G-T	c.362C>A	p.A121D	Missense	6/18	-	1
8-72234026-C-G	c.361G>C	p.A121P	Missense	6/18	-	1
8-72234026-C-T	c.361G>A	p.A121T	Missense	6/18	-	2
8-72234027-T-C	c.360A>G	p.Q120=	Synonymous	6/18	-	1
8-72234028-T-C	c.359A>G	p.Q120R	Missense	6/18	-	1
8-72234029-G-C	c.358C>G	p.Q120E	Missense	6/18	-	1
8-72234031-T-A	c.356A>T	p.Q119L	Missense	6/18	-	1
8-72234031-T-C	c.356A>G	p.Q119R	Missense	6/18	-	2
8-72234033-C-A	c.354G>T	p.M118I	Missense	6/18	-	1
8-72234033-C-T	c.354G>A	p.M118I	Missense	6/18	-	1
8-72234035-T-A	c.352A>T	p.M118L	Missense	6/18	-	1
8-72234035-T-C	c.352A>G	p.M118V	Missense	6/18	-	1
8-72234036-TCC-ACA	c.349_351delinsTGT	p.G117C	Missense	6/18	-	1
8-72234037-C-T	c.350G>A	p.G117E	Missense	6/18	-	5
8-72234043-G-A	c.344C>T	p.T115I	Missense	6/18	-	1
8-72234043-G-T	c.344C>A	p.T115N	Missense	6/18	-	2
8-72234046-A-T	c.341T>A	p.F114Y	Missense	6/18	-	1
8-72234047-A-G	c.340T>C	p.F114L	Missense	6/18	-	1
8-72234049-T-C	c.338A>G	p.Q113R	Missense	6/18	-	1
8-72234049-T-G	c.338A>C	p.Q113P	Missense	6/18	-	1
8-72234050-G-C	c.337C>G	p.Q113E	Missense	6/18	-	1
8-72234050-G-T	c.337C>A	p.Q113K	Missense	6/18	-	2
8-72234051-T-C	c.336A>G	p.T112=	Synonymous	6/18	-	1
8-72234053-T-C	c.334A>G	p.T112A	Missense	6/18	-	1
8-72234054-T-C	c.333A>G	p.Q111=	Synonymous	6/18	-	1
8-72234057-C-T	c.330G>A	p.G110=	Synonymous	6/18	-	1
8-72234058-C-T	c.329G>A	p.G110E	Missense	6/18	-	2
8-72234061-T-C	c.326A>G	p.Y109C	Missense	6/18	-	1
8-72234062-A-G	c.325T>C	p.Y109H	Missense	6/18	-	2
8-72234065-C-T	c.322G>A	p.A108T	Missense	6/18	-	1
8-72234066-CA-C	c.321del	p.A108Hfs*133	Frameshift	6/18	-	1
8-72234067-G-T	c.320C>A	p.A107D	Missense	6/18	-	1
8-72234068-C-T	c.319G>A	p.A107T	Missense	6/18	-	6
8-72234072-A-C	c.315T>G	p.T105=	Synonymous	6/18	-	1
8-72234072-A-G	c.315T>C	p.T105=	Synonymous	6/18	-	1
8-72234072-A-T	c.315T>A	p.T105=	Synonymous	6/18	-	1
8-72234073-G-C	c.314C>G	p.T105S	Missense	6/18	-	4
8-72234077-G-A	c.310C>T	p.Q104*	Nonsense	6/18	-	1
8-72234080-A-C	c.307T>G	p.S103A	Missense	6/18	-	1
8-72234081-G-T	c.306C>A	p.S102=	Synonymous	6/18	-	1
8-72234082-G-A	c.305C>T	p.S102F	Missense	6/18	-	5
8-72234085-G-A	c.302C>T	p.P101L	Missense	6/18	-	3
8-72234086-G-C	c.301C>G	p.P101A	Missense	6/18	-	1
8-72234088-G-A	c.299C>T	p.T100I	Missense	6/18	-	2
8-72234088-G-T	c.299C>A	p.T100N	Missense	6/18	-	1
8-72234091-G-A	c.296C>T	p.P99L	Missense	6/18	-	2
8-72234091-G-C	c.296C>G	p.P99R	Missense	6/18	-	1
8-72234092-G-A	c.295C>T	p.P99S	Missense	6/18	-	6
8-72234093-G-A	c.294C>T	p.L98=	Synonymous	6/18	-	2
8-72234093-G-C	c.294C>G	p.L98=	Synonymous	6/18	-	1
8-72234093-G-T	c.294C>A	p.L98=	Synonymous	6/18	-	1
8-72234095-G-A	c.292C>T	p.L98F	Missense	6/18	-	1
8-72234097-A-C	c.290T>G	p.I97S	Missense	6/18	-	1
8-72234098-T-C	c.289A>G	p.I97V	Missense	6/18	-	2
8-72234100-T-C	c.287A>G	p.H96R	Missense	6/18	-	2
8-72234102-T-C	c.285A>G	p.P95=	Synonymous	6/18	-	1
8-72234103-G-A	c.284C>T	p.P95L	Missense	6/18	-	1
8-72234103-G-T	c.284C>A	p.P95Q	Missense	6/18	-	1
8-72234104-G-A	c.283C>T	p.P95S	Missense	6/18	-	2
8-72234104-G-GCTC	c.282_283insGAG	p.Y94_P95insE	InFrameInsertion	6/18	-	1
8-72234105-G-A	c.282C>T	p.Y94=	Synonymous	6/18	-	2
8-72234107-A-G	c.280T>C	p.Y94H	Missense	6/18	-	1
8-72234110-G-A	c.277C>T	p.P93S	Missense	6/18	-	4
8-72234110-G-T	c.277C>A	p.P93T	Missense	6/18	-	1
8-72234362-C-T	c.272+72G>A	-	IntronicSNV	-	5/17	1
8-72234426-C-A	c.272+8G>T	-	IntronicSNV	-	5/17	1
8-72234435-T-C	c.271A>G	p.N91D	Missense	5/18	-	1
8-72234437-G-A	c.269C>T	p.S90F	Missense	5/18	-	2
8-72234437-GA-AG	c.268_269delinsCT	p.S90L	Missense	5/18	-	1
8-72234440-G-A	c.266C>T	p.P89L	Missense	5/18	-	4
8-72234441-G-A	c.265C>T	p.P89S	Missense	5/18	-	1
8-72234442-G-T	c.264C>A	p.Y88*	Nonsense	5/18	-	2
8-72234443-T-C	c.263A>G	p.Y88C	Missense	5/18	-	1
8-72234444-A-G	c.262T>C	p.Y88H	Missense	5/18	-	1
8-72234446-A-G	c.260T>C	p.I87T	Missense	5/18	-	2
8-72234447-T-C	c.259A>G	p.I87V	Missense	5/18	-	1
8-72234449-T-C	c.257A>G	p.Q86R	Missense	5/18	-	2
8-72234453-G-A	c.253C>T	p.P85S	Missense	5/18	-	1
8-72234458-G-C	c.248C>G	p.S83C	Missense	5/18	-	1
8-72234459-A-G	c.247T>C	p.S83P	Missense	5/18	-	1
8-72234460-G-A	c.246C>T	p.F82=	Synonymous	5/18	-	2
8-72234461-A-G	c.245T>C	p.F82S	Missense	5/18	-	1
8-72234461-A-T	c.245T>A	p.F82Y	Missense	5/18	-	1
8-72234465-G-A	c.241C>T	p.Q81*	Nonsense	5/18	-	1
8-72234469-A-G	c.237T>C	p.T79=	Synonymous	5/18	-	1
8-72234470-G-A	c.236C>T	p.T79I	Missense	5/18	-	2
8-72234471-T-C	c.235A>G	p.T79A	Missense	5/18	-	1
8-72234473-G-A	c.233C>T	p.P78L	Missense	5/18	-	1
8-72234473-G-C	c.233C>G	p.P78R	Missense	5/18	-	2
8-72234476-C-T	c.230G>A	p.R77Q	Missense	5/18	-	4
8-72234477-G-A	c.229C>T	p.R77*	Nonsense	5/18	-	6
8-72234479-G-A	c.227C>T	p.P76L	Missense	5/18	-	1
8-72234479-G-C	c.227C>G	p.P76R	Missense	5/18	-	1
8-72234480-G-C	c.226C>G	p.P76A	Missense	5/18	-	1
8-72234481-G-A	c.225C>T	p.S75=	Synonymous	5/18	-	3
8-72234484-GAA-CTC	c.220_222delinsGAG	p.F74E	Missense	5/18	-	1
8-72234487-A-G	c.219T>C	p.S73=	Synonymous	5/18	-	1
8-72234488-C-T	c.218G>A	p.S73N	Missense	5/18	-	1
8-72234489-T-C	c.217A>G	p.S73G	Missense	5/18	-	1
8-72234492-T-C	c.214A>G	p.S72G	Missense	5/18	-	3
8-72234493-G-A	c.213C>T	p.S71=	Synonymous	5/18	-	1
8-72234493-G-T	c.213C>A	p.S71R	Missense	5/18	-	1
8-72234494-C-T	c.212G>A	p.S71N	Missense	5/18	-	4
8-72234496-C-T	c.210G>A	p.G70=	Synonymous	5/18	-	1
8-72234497-C-A	c.209G>T	p.G70V	Missense	5/18	-	1
8-72234498-C-G	c.208G>C	p.G70R	Missense	5/18	-	2
8-72234498-C-T	c.208G>A	p.G70R	Missense	5/18	-	4
8-72234500-A-G	c.206T>C	p.I69T	Missense	5/18	-	1
8-72234501-T-C	c.205A>G	p.I69V	Missense	5/18	-	1
8-72234501-T-G	c.205A>C	p.I69L	Missense	5/18	-	1
8-72234502-T-A	c.204A>T	p.A68=	Synonymous	5/18	-	1
8-72234503-G-A	c.203C>T	p.A68V	Missense	5/18	-	1
8-72234503-G-C	c.203C>G	p.A68G	Missense	5/18	-	2
8-72242674-T-C	c.202+3658A>G	-	IntronicSNV	-	4/17	1
8-72246325-T-C	c.202+7A>G	-	IntronicSNV	-	4/17	1
8-72246332-C-G	c.202G>C	p.A68P	Missense	4/18	-	3
8-72246333-T-A	c.201A>T	p.S67=	Synonymous	4/18	-	1
8-72246334-G-A	c.200C>T	p.S67L	Missense	4/18	-	1
8-72246337-C-A	c.197G>T	p.G66V	Missense	4/18	-	3
8-72246337-C-T	c.197G>A	p.G66D	Missense	4/18	-	1
8-72246338-C-A	c.196G>T	p.G66C	Missense	4/18	-	1
8-72246338-C-T	c.196G>A	p.G66S	Missense	4/18	-	1
8-72246340-G-C	c.194C>G	p.S65*	Nonsense	4/18	-	1
8-72246340-G-T	c.194C>A	p.S65*	Nonsense	4/18	-	2
8-72246342-G-C	c.192C>G	p.F64L	Missense	4/18	-	3
8-72246342-G-T	c.192C>A	p.F64L	Missense	4/18	-	3
8-72246344-A-G	c.190T>C	p.F64L	Missense	4/18	-	3
8-72246355-G-T	c.179C>A	p.S60Y	Missense	4/18	-	1
8-72246356-A-G	c.178T>C	p.S60P	Missense	4/18	-	2
8-72246357-C-T	c.177G>A	p.G59=	Synonymous	4/18	-	1
8-72246358-C-T	c.176G>A	p.G59E	Missense	4/18	-	4
8-72246359-C-A	c.175G>T	p.G59W	Missense	4/18	-	1
8-72246359-C-G	c.175G>C	p.G59R	Missense	4/18	-	1
8-72246359-C-T	c.175G>A	p.G59R	Missense	4/18	-	4
8-72246360-G-A	c.174C>T	p.D58=	Synonymous	4/18	-	2
8-72246360-G-T	c.174C>A	p.D58E	Missense	4/18	-	2
8-72246362-C-T	c.172G>A	p.D58N	Missense	4/18	-	3
8-72246364-G-A	c.170C>T	p.A57V	Missense	4/18	-	1
8-72246365-C-G	c.169G>C	p.A57P	Missense	4/18	-	1
8-72246365-C-T	c.169G>A	p.A57T	Missense	4/18	-	1
8-72246366-T-A	c.168A>T	p.T56=	Synonymous	4/18	-	1
8-72246366-T-C	c.168A>G	p.T56=	Synonymous	4/18	-	2
8-72246366-T-G	c.168A>C	p.T56=	Synonymous	4/18	-	1
8-72246367-G-A	c.167C>T	p.T56I	Missense	4/18	-	2
8-72246368-T-C	c.166A>G	p.T56A	Missense	4/18	-	1
8-72246368-T-G	c.166A>C	p.T56P	Missense	4/18	-	1
8-72246369-C-A	c.165G>T	p.T55=	Synonymous	4/18	-	3
8-72246369-C-G	c.165G>C	p.T55=	Synonymous	4/18	-	3
8-72246369-CG-GT	c.164_165delinsAC	p.T55N	Missense	4/18	-	1
8-72246369-C-T	c.165G>A	p.T55=	Synonymous	4/18	-	4
8-72246370-G-A	c.164C>T	p.T55M	Missense	4/18	-	8
8-72246371-T-C	c.163A>G	p.T55A	Missense	4/18	-	3
8-72246376-G-A	c.158C>T	p.A53V	Missense	4/18	-	2
8-72246376-GC-AT	c.157_158delinsAT	p.A53I	Missense	4/18	-	1
8-72246377-C-T	c.157G>A	p.A53T	Missense	4/18	-	1
8-72246379-G-A	c.155C>T	p.T52I	Missense	4/18	-	1
8-72246382-T-C	c.152A>G	p.E51G	Missense	4/18	-	3
8-72246382-T-G	c.152A>C	p.E51A	Missense	4/18	-	1
8-72246386-T-A	c.148A>T	p.S50C	Missense	4/18	-	4
8-72246393-C-T	c.141G>A	p.M47I	Missense	4/18	-	1
8-72246394-A-G	c.140T>C	p.M47T	Missense	4/18	-	1
8-72246397-G-C	c.137C>G	p.P46R	Missense	4/18	-	1
8-72246399-C-T	c.135G>A	p.E45=	Synonymous	4/18	-	1
8-72246398-GCT-G	c.134_135del	p.E45Afs*6	Frameshift	4/18	-	1
8-72246401-C-T	c.133G>A	p.E45K	Missense	4/18	-	1
8-72246403-G-A	c.131C>T	p.T44I	Missense	4/18	-	1
8-72246403-G-C	c.131C>G	p.T44R	Missense	4/18	-	2
8-72246405-T-C	c.129A>G	p.K43=	Synonymous	4/18	-	2
8-72246406-T-C	c.128A>G	p.K43R	Missense	4/18	-	3
8-72246436-T-C	c.125-27A>G	-	IntronicSNV	-	3/17	1
8-72246578-A-G	c.125-169T>C	-	IntronicSNV	-	3/17	3
8-72246667-T-C	c.125-258A>G	-	IntronicSNV	-	3/17	1
8-72246768-T-A	c.125-359A>T	-	IntronicSNV	-	3/17	3
8-72246768-T-C	c.125-359A>G	-	IntronicSNV	-	3/17	3
8-72248174-T-C	c.125-1765A>G	-	IntronicSNV	-	3/17	1
8-72248546-C-A	c.125-2137G>T	-	IntronicSNV	-	3/17	1
8-72248546-C-T	c.125-2137G>A	-	IntronicSNV	-	3/17	1
8-72250466-C-T	c.125-4057G>A	-	IntronicSNV	-	3/17	1
8-72252929-A-G	c.125-6520T>C	-	IntronicSNV	-	3/17	1
8-72258204-C-G	c.124+8813G>C	-	IntronicSNV	-	3/17	1
8-72263956-C-T	c.124+3061G>A	-	IntronicSNV	-	3/17	3
8-72267016-C-A	c.124+1G>T	-	IntronicSNV	-	3/17	1
8-72267017-C-T	c.124G>A	p.V42I	Missense	3/18	-	2
8-72267020-C-G	c.121G>C	p.E41Q	Missense	3/18	-	1
8-72267020-C-T	c.121G>A	p.E41K	Missense	3/18	-	5
8-72267021-GG-CA	c.119_120delinsTG	p.T40M	Missense	3/18	-	1
8-72267023-T-C	c.118A>G	p.T40A	Missense	3/18	-	2
8-72267024-G-A	c.117C>T	p.G39=	Synonymous	3/18	-	1
8-72267025-C-T	c.116G>A	p.G39D	Missense	3/18	-	9
8-72267026-C-G	c.115G>C	p.G39R	Missense	3/18	-	1
8-72267026-C-T	c.115G>A	p.G39S	Missense	3/18	-	3
8-72267028-T-C	c.113A>G	p.N38S	Missense	3/18	-	4
8-72267029-T-C	c.112A>G	p.N38D	Missense	3/18	-	1
8-72267032-G-C	c.109C>G	p.P37A	Missense	3/18	-	1
8-72267034-G-A	c.107C>T	p.T36I	Missense	3/18	-	3
8-72267051-T-C	c.90A>G	p.I30M	Missense	3/18	-	1
8-72267053-T-C	c.88A>G	p.I30V	Missense	3/18	-	2
8-72267056-G-A	c.85C>T	p.H29Y	Missense	3/18	-	1
8-72267058-G-C	c.83C>G	p.S28C	Missense	3/18	-	1
8-72267058-G-T	c.83C>A	p.S28Y	Missense	3/18	-	1
8-72267061-T-G	c.80A>C	p.N27T	Missense	3/18	-	3
8-72267063-A-G	c.78T>C	p.G26=	Synonymous	3/18	-	1
8-72267064-C-T	c.77G>A	p.G26D	Missense	3/18	-	2
8-72267065-C-A	c.76G>T	p.G26C	Missense	3/18	-	2
8-72267065-C-G	c.76G>C	p.G26R	Missense	3/18	-	1
8-72267065-C-T	c.76G>A	p.G26S	Missense	3/18	-	1
8-72267066-G-A	c.75C>T	p.L25=	Synonymous	3/18	-	9
8-72267066-G-C	c.75C>G	p.L25=	Synonymous	3/18	-	2
8-72267066-G-T	c.75C>A	p.L25=	Synonymous	3/18	-	2
8-72267068-G-T	c.73C>A	p.L25I	Missense	3/18	-	2
8-72267070-T-C	c.71A>G	p.K24R	Missense	3/18	-	1
8-72267074-G-A	c.67C>T	p.P23S	Missense	3/18	-	1
8-72267074-G-T	c.67C>A	p.P23T	Missense	3/18	-	2
8-72267075-G-A	c.66C>T	p.G22=	Synonymous	3/18	-	2
8-72267075-G-C	c.66C>G	p.G22=	Synonymous	3/18	-	1
8-72267075-GC-CT	c.65_66delinsAG	p.G22E	Missense	3/18	-	1
8-72267075-G-T	c.66C>A	p.G22=	Synonymous	3/18	-	1
8-72267076-C-G	c.65G>C	p.G22A	Missense	3/18	-	1
8-72267076-C-T	c.65G>A	p.G22D	Missense	3/18	-	1
8-72267077-C-A	c.64G>T	p.G22C	Missense	3/18	-	1
8-72267077-C-G	c.64G>C	p.G22R	Missense	3/18	-	1
8-72267077-C-T	c.64G>A	p.G22S	Missense	3/18	-	1
8-72267078-A-G	c.63T>C	p.S21=	Synonymous	3/18	-	1
8-72267079-C-T	c.62G>A	p.S21N	Missense	3/18	-	1
8-72267083-G-C	c.58C>G	p.P20A	Missense	3/18	-	10
8-72267083-G-T	c.58C>A	p.P20T	Missense	3/18	-	4
8-72267080-TG-T	c.60del	p.S21Vfs*10	Frameshift	3/18	-	1
8-72267085-G-A	c.56C>T	p.S19F	Missense	3/18	-	1
8-72267089-C-T	c.52G>A	p.E18K	Missense	3/18	-	7
8-72267090-A-G	c.51T>C	p.S17=	Synonymous	3/18	-	1
8-72267091-C-T	c.50G>A	p.S17N	Missense	3/18	-	1
8-72267092-T-C	c.49A>G	p.S17G	Missense	3/18	-	1
8-72267094-CT-GC	c.46_47delinsGC	p.S16A	Missense	3/18	-	1
8-72267096-A-T	c.45T>A	p.G15=	Synonymous	3/18	-	1
8-72267096-TACCACTCA-T	c.38_45del	p.L13Qfs*2	Frameshift	3/18	-	1
8-72267099-A-C	c.42T>G	p.S14R	Missense	3/18	-	1
8-72267099-A-T	c.42T>A	p.S14R	Missense	3/18	-	1
8-72267101-T-G	c.40A>C	p.S14R	Missense	3/18	-	1
8-72267100-C-T	c.41G>A	p.S14N	Missense	3/18	-	1
8-72267100-CT-GC	c.40_41delinsGC	p.S14A	Missense	3/18	-	1
8-72267103-A-T	c.38T>A	p.L13Q	Missense	3/18	-	2
8-72267104-G-C	c.37C>G	p.L13V	Missense	3/18	-	1
8-72267106-AC-A	c.35del	p.R12Lfs*2	Frameshift	3/18	-	1
8-72267106-C-G	c.35G>C	p.R12P	Missense	3/18	-	2
8-72267106-C-T	c.35G>A	p.R12H	Missense	3/18	-	7
8-72267107-G-A	c.34C>T	p.R12C	Missense	3/18	-	2
8-72267109-C-T	c.32G>A	p.S11N	Missense	3/18	-	1
8-72267109-CT-AG	c.31_32inv	p.S11L	Missense	3/18	-	1
8-72267109-CT-GC	c.31_32delinsGC	p.S11A	Missense	3/18	-	1
8-72267110-T-A	c.31A>T	p.S11C	Missense	3/18	-	1
8-72267112-T-C	c.29A>G	p.H10R	Missense	3/18	-	2
8-72267113-G-T	c.28C>A	p.H10N	Missense	3/18	-	1
8-72267114-C-A	c.27G>T	p.P9=	Synonymous	3/18	-	1
8-72267114-C-G	c.27G>C	p.P9=	Synonymous	3/18	-	1
8-72267114-C-T	c.27G>A	p.P9=	Synonymous	3/18	-	1
8-72267115-G-A	c.26C>T	p.P9L	Missense	3/18	-	8
8-72267115-G-C	c.26C>G	p.P9R	Missense	3/18	-	3
8-72267117-G-C	c.24C>G	p.S8R	Missense	3/18	-	1
8-72267117-G-T	c.24C>A	p.S8R	Missense	3/18	-	1
8-72267119-T-G	c.22A>C	p.S8R	Missense	3/18	-	1
8-72267118-C-T	c.23G>A	p.S8N	Missense	3/18	-	1
8-72267124-A-G	c.17T>C	p.L6P	Missense	3/18	-	1
8-72267125-G-T	c.16C>A	p.L6I	Missense	3/18	-	1
8-72267127-T-G	c.14A>C	p.D5A	Missense	3/18	-	2
8-72267128-C-T	c.13G>A	p.D5N	Missense	3/18	-	4
8-72267135-T-A	c.6A>T	p.E2D	Missense	3/18	-	1
8-72267135-T-G	c.6A>C	p.E2D	Missense	3/18	-	1
8-72267136-T-A	c.5A>T	p.E2V	Missense	3/18	-	1
8-72267137-C-T	c.4G>A	p.E2K	Missense	3/18	-	5
8-72267138-C-A	c.3G>T	p.M1?	Missense	3/18	-	1
8-72267138-C-G	c.3G>C	p.M1?	Missense	3/18	-	1
8-72267138-C-T	c.3G>A	p.M1?	Missense	3/18	-	2
8-72267411-C-T	c.-271G>A	-	IntronicSNV	1/18	-	1
8-72268354-A-C	c.-5+343T>G	-	intron_variant	-	2/17	1
8-72268739-G-T	c.-47C>A	-	5_prime_UTR_variant	2/18	-	1