SLC2A9

SLC2A9 solute carrier family 2 member 9

Annotation transcript: NM_020041.3

1214 unique variant annotations were identified in 936 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
4-9828027-C-A	c.1617G>T	p.R539S	Missense	12/12	-	1
4-9828028-C-T	c.1616G>A	p.R539K	Missense	12/12	-	2
4-9828030-T-A	c.1614A>T	p.G538=	Synonymous	12/12	-	2
4-9828034-T-A	c.1610A>T	p.N537I	Missense	12/12	-	1
4-9828041-T-C	c.1603A>G	p.K535E	Missense	12/12	-	4
4-9828044-C-T	c.1600G>A	p.G534S	Missense	12/12	-	1
4-9828045-A-G	c.1599T>C	p.D533=	Synonymous	12/12	-	1
4-9828060-G-T	c.1584C>A	p.D528E	Missense	12/12	-	1
4-9828061-T-C	c.1583A>G	p.D528G	Missense	12/12	-	1
4-9828062-C-T	c.1582G>A	p.D528N	Missense	12/12	-	5
4-9828063-G-A	c.1581C>T	p.I527=	Synonymous	12/12	-	8
4-9828063-G-T	c.1581C>A	p.I527=	Synonymous	12/12	-	4
4-9828066-T-G	c.1578A>C	p.K526N	Missense	12/12	-	2
4-9828069-C-A	c.1575G>T	p.E525D	Missense	12/12	-	6
4-9828069-C-G	c.1575G>C	p.E525D	Missense	12/12	-	4
4-9828069-C-T	c.1575G>A	p.E525=	Synonymous	12/12	-	3
4-9828072-T-A	c.1572A>T	p.E524D	Missense	12/12	-	1
4-9828072-T-G	c.1572A>C	p.E524D	Missense	12/12	-	2
4-9828074-C-G	c.1570G>C	p.E524Q	Missense	12/12	-	1
4-9828074-C-T	c.1570G>A	p.E524K	Missense	12/12	-	1
4-9828076-G-C	c.1568C>G	p.P523R	Missense	12/12	-	1
4-9828079-G-A	c.1565C>T	p.P522L	Missense	12/12	-	1
4-9828081-G-C	c.1563C>G	p.Y521*	Nonsense	12/12	-	1
4-9828081-G-T	c.1563C>A	p.Y521*	Nonsense	12/12	-	2
4-9828083-A-G	c.1561T>C	p.Y521H	Missense	12/12	-	2
4-9828085-G-T	c.1559C>A	p.A520E	Missense	12/12	-	1
4-9828090-G-C	c.1554C>G	p.N518K	Missense	12/12	-	1
4-9828090-G-T	c.1554C>A	p.N518K	Missense	12/12	-	1
4-9828093-C-A	c.1551G>T	p.R517S	Missense	12/12	-	1
4-9828093-C-G	c.1551G>C	p.R517S	Missense	12/12	-	1
4-9828093-C-T	c.1551G>A	p.R517=	Synonymous	12/12	-	5
4-9828094-C-A	c.1550G>T	p.R517M	Missense	12/12	-	1
4-9828094-C-T	c.1550G>A	p.R517K	Missense	12/12	-	2
4-9828095-T-C	c.1549A>G	p.R517G	Missense	12/12	-	1
4-9828095-T-G	c.1549A>C	p.R517=	Synonymous	12/12	-	1
4-9828099-G-A	c.1545C>T	p.S515=	Synonymous	12/12	-	3
4-9828099-G-C	c.1545C>G	p.S515=	Synonymous	12/12	-	2
4-9828099-G-T	c.1545C>A	p.S515=	Synonymous	12/12	-	2
4-9828100-G-A	c.1544C>T	p.S515F	Missense	12/12	-	4
4-9828100-G-C	c.1544C>G	p.S515C	Missense	12/12	-	1
4-9828101-A-G	c.1543T>C	p.S515P	Missense	12/12	-	1
4-9828107-C-T	c.1537G>A	p.A513T	Missense	12/12	-	7
4-9828112-C-A	c.1532G>T	p.S511I	Missense	12/12	-	1
4-9828112-C-T	c.1532G>A	p.S511N	Missense	12/12	-	5
4-9828112-CT-GG	c.1531_1532delinsCC	p.S511P	Missense	12/12	-	1
4-9828114-G-A	c.1530C>T	p.I510=	Synonymous	12/12	-	1
4-9828128-T-C	c.1516A>G	p.T506A	Missense	12/12	-	1
4-9828130-C-T	c.1514G>A	p.R505K	Missense	12/12	-	2
4-9828139-G-T	c.1505C>A	p.T502N	Missense	12/12	-	1
4-9828145-G-T	c.1499C>A	p.P500H	Missense	12/12	-	1
4-9828146-G-A	c.1498C>T	p.P500S	Missense	12/12	-	1
4-9828152-C-T	c.1492G>A	p.V498M	Missense	12/12	-	1
4-9828155-A-C	c.1489T>G	p.F497V	Missense	12/12	-	1
4-9828162-G-A	c.1482C>T	p.Y494=	Synonymous	12/12	-	1
4-9828165-G-C	c.1479C>G	p.I493M	Missense	12/12	-	1
4-9828167-T-C	c.1477A>G	p.I493V	Missense	12/12	-	1
4-9828169-G-A	c.1475C>T	p.A492V	Missense	12/12	-	2
4-9828172-C-A	c.1472G>T	p.G491V	Missense	12/12	-	4
4-9828176-T-C	c.1468A>G	p.T490A	Missense	12/12	-	2
4-9828177-G-C	c.1467C>G	p.I489M	Missense	12/12	-	1
4-9828178-A-G	c.1466T>C	p.I489T	Missense	12/12	-	1
4-9828180-A-G	c.1464T>C	p.C488=	Synonymous	12/12	-	1
4-9828181-C-G	c.1463G>C	p.C488S	Missense	12/12	-	1
4-9828182-A-T	c.1462T>A	p.C488S	Missense	12/12	-	2
4-9828186-T-A	c.1458A>T	p.T486=	Synonymous	12/12	-	1
4-9828186-T-C	c.1458A>G	p.T486=	Synonymous	12/12	-	1
4-9828186-T-G	c.1458A>C	p.T486=	Synonymous	12/12	-	1
4-9828188-T-A	c.1456A>T	p.T486S	Missense	12/12	-	1
4-9828195-G-A	c.1449C>T	p.V483=	Synonymous	12/12	-	3
4-9828199-A-G	c.1445T>C	p.L482P	Missense	12/12	-	1
4-9828200-G-T	c.1444C>A	p.L482I	Missense	12/12	-	1
4-9828201-G-A	c.1443C>T	p.F481=	Synonymous	12/12	-	1
4-9828205-C-T	c.1439G>A	p.C480Y	Missense	12/12	-	1
4-9828206-A-T	c.1438T>A	p.C480S	Missense	12/12	-	1
4-9828209-A-C	c.1435T>G	p.Y479D	Missense	12/12	-	1
4-9828211-G-A	c.1433C>T	p.T478I	Missense	12/12	-	1
4-9828214-T-A	c.1430A>T	p.D477V	Missense	12/12	-	1
4-9828215-C-A	c.1429G>T	p.D477Y	Missense	12/12	-	2
4-9828215-C-T	c.1429G>A	p.D477N	Missense	12/12	-	1
4-9828218-G-A	c.1426C>T	p.L476=	Synonymous	12/12	-	3
4-9828222-T-C	c.1422A>G	p.K474=	Synonymous	12/12	-	2
4-9828484-T-C	c.1420-260A>G	-	IntronicSNV	-	11/11	1
4-9830785-T-C	c.1420-2561A>G	-	IntronicSNV	-	11/11	1
4-9832512-C-T	c.1419+3993G>A	-	IntronicSNV	-	11/11	1
4-9834107-G-C	c.1419+2398C>G	-	IntronicSNV	-	11/11	1
4-9834107-G-T	c.1419+2398C>A	-	IntronicSNV	-	11/11	1
4-9834896-C-G	c.1419+1609G>C	-	IntronicSNV	-	11/11	1
4-9834896-C-T	c.1419+1609G>A	-	IntronicSNV	-	11/11	1
4-9834999-T-A	c.1419+1506A>T	-	IntronicSNV	-	11/11	1
4-9834999-T-C	c.1419+1506A>G	-	IntronicSNV	-	11/11	1
4-9835154-A-C	c.1419+1351T>G	-	IntronicSNV	-	11/11	1
4-9835491-G-T	c.1419+1014C>A	-	IntronicSNV	-	11/11	1
4-9836366-T-C	c.1419+139A>G	-	IntronicSNV	-	11/11	2
4-9836504-C-T	c.1419+1G>A	-	IntronicSNV	-	11/11	3
4-9836503-AC-A	c.1419+1del	-	IntronicDeletion	11/12	-	1
4-9836505-C-A	c.1419G>T	p.Q473H	Missense	11/12	-	3
4-9836505-C-G	c.1419G>C	p.Q473H	Missense	11/12	-	2
4-9836506-T-C	c.1418A>G	p.Q473R	Missense	11/12	-	1
4-9836507-G-A	c.1417C>T	p.Q473*	Nonsense	11/12	-	2
4-9836508-A-T	c.1416T>A	p.I472=	Synonymous	11/12	-	1
4-9836510-T-C	c.1414A>G	p.I472V	Missense	11/12	-	1
4-9836511-G-A	c.1413C>T	p.F471=	Synonymous	11/12	-	4
4-9836511-G-T	c.1413C>A	p.F471L	Missense	11/12	-	1
4-9836517-G-A	c.1407C>T	p.F469=	Synonymous	11/12	-	2
4-9836518-A-G	c.1406T>C	p.F469S	Missense	11/12	-	3
4-9836522-G-A	c.1402C>T	p.L468F	Missense	11/12	-	1
4-9836525-G-T	c.1399C>A	p.L467I	Missense	11/12	-	1
4-9836527-C-T	c.1397G>A	p.G466E	Missense	11/12	-	2
4-9836533-AGCAAAGTTGGAGAG-A	c.1378_1391del	p.L460Cfs*37	Frameshift	11/12	-	2
4-9836533-G-A	c.1391C>T	p.A464V	Missense	11/12	-	1
4-9836535-CAAA-C	c.1387_1389del	p.F463del	InFrameDeletion	11/12	-	1
4-9836535-A-C	c.1389T>G	p.F463L	Missense	11/12	-	3
4-9836535-A-T	c.1389T>A	p.F463L	Missense	11/12	-	3
4-9836537-A-G	c.1387T>C	p.F463L	Missense	11/12	-	3
4-9836549-A-G	c.1375T>C	p.W459R	Missense	11/12	-	1
4-9836549-A-T	c.1375T>A	p.W459R	Missense	11/12	-	1
4-9836551-T-G	c.1373A>C	p.N458T	Missense	11/12	-	1
4-9836553-G-A	c.1371C>T	p.V457=	Synonymous	11/12	-	4
4-9836553-G-C	c.1371C>G	p.V457=	Synonymous	11/12	-	3
4-9836553-G-T	c.1371C>A	p.V457=	Synonymous	11/12	-	3
4-9836554-A-T	c.1370T>A	p.V457D	Missense	11/12	-	1
4-9836555-C-T	c.1369G>A	p.V457I	Missense	11/12	-	2
4-9836556-G-A	c.1368C>T	p.T456=	Synonymous	11/12	-	2
4-9836556-G-C	c.1368C>G	p.T456=	Synonymous	11/12	-	2
4-9836556-G-T	c.1368C>A	p.T456=	Synonymous	11/12	-	1
4-9836560-C-T	c.1364G>A	p.G455D	Missense	11/12	-	2
4-9836561-C-A	c.1363G>T	p.G455C	Missense	11/12	-	2
4-9836564-C-T	c.1360G>A	p.A454T	Missense	11/12	-	3
4-9836573-A-G	c.1351T>C	p.F451L	Missense	11/12	-	1
4-9836577-A-T	c.1347T>A	p.A449=	Synonymous	11/12	-	2
4-9836579-C-T	c.1345G>A	p.A449T	Missense	11/12	-	2
4-9836581-G-A	c.1343C>T	p.P448L	Missense	11/12	-	6
4-9836582-G-A	c.1342C>T	p.P448S	Missense	11/12	-	2
4-9836585-G-A	c.1339C>T	p.R447W	Missense	11/12	-	2
4-9836593-T-C	c.1331A>G	p.Q444R	Missense	11/12	-	2
4-9836598-G-A	c.1326C>T	p.F442=	Synonymous	11/12	-	2
4-9836599-A-G	c.1325T>C	p.F442S	Missense	11/12	-	1
4-9836601-G-T	c.1323C>A	p.F441L	Missense	11/12	-	1
4-9836604-C-T	c.1320G>A	p.E440=	Synonymous	11/12	-	3
4-9836606-C-G	c.1318G>C	p.E440Q	Missense	11/12	-	1
4-9836610-AG-CA	c.1313_1314delinsTG	p.T438M	Missense	11/12	-	1
4-9836613-C-G	c.1311G>C	p.L437F	Missense	11/12	-	2
4-9836614-AA-GG	c.1309_1310delinsCC	p.L437P	Missense	11/12	-	1
4-9836622-C-T	c.1302G>A	p.P434=	Synonymous	11/12	-	1
4-9836623-G-A	c.1301C>T	p.P434L	Missense	11/12	-	1
4-9836623-G-T	c.1301C>A	p.P434Q	Missense	11/12	-	1
4-9836625-G-A	c.1299C>T	p.I433=	Synonymous	11/12	-	1
4-9836629-C-T	c.1295G>A	p.G432D	Missense	11/12	-	2
4-9836632-C-G	c.1292G>C	p.G431A	Missense	11/12	-	1
4-9836632-C-T	c.1292G>A	p.G431D	Missense	11/12	-	1
4-9837090-C-G	c.1292-458G>C	-	IntronicSNV	-	10/11	1
4-9837090-C-T	c.1292-458G>A	-	IntronicSNV	-	10/11	1
4-9838548-C-A	c.1292-1916G>T	-	IntronicSNV	-	10/11	1
4-9839490-C-A	c.1292-2858G>T	-	IntronicSNV	-	10/11	1
4-9839490-C-G	c.1292-2858G>C	-	IntronicSNV	-	10/11	1
4-9841690-A-T	c.1292-5058T>A	-	IntronicSNV	-	10/11	1
4-9842850-T-A	c.1292-6218A>T	-	IntronicSNV	-	10/11	2
4-9843357-G-A	c.1292-6725C>T	-	IntronicSNV	-	10/11	1
4-9844162-T-C	c.1292-7530A>G	-	IntronicSNV	-	10/11	1
4-9845079-T-C	c.1292-8447A>G	-	IntronicSNV	-	10/11	1
4-9845985-T-C	c.1292-9353A>G	-	IntronicSNV	-	10/11	1
4-9846247-T-C	c.1292-9615A>G	-	IntronicSNV	-	10/11	1
4-9846309-G-A	c.1292-9677C>T	-	IntronicSNV	-	10/11	1
4-9847860-G-C	c.1292-11228C>G	-	IntronicSNV	-	10/11	1
4-9848899-A-G	c.1292-12267T>C	-	IntronicSNV	-	10/11	1
4-9849528-C-T	c.1292-12896G>A	-	IntronicSNV	-	10/11	1
4-9850220-C-A	c.1292-13588G>T	-	IntronicSNV	-	10/11	1
4-9851827-C-T	c.1292-15195G>A	-	IntronicSNV	-	10/11	1
4-9851875-C-A	c.1292-15243G>T	-	IntronicSNV	-	10/11	1
4-9851875-C-T	c.1292-15243G>A	-	IntronicSNV	-	10/11	1
4-9852392-T-C	c.1292-15760A>G	-	IntronicSNV	-	10/11	1
4-9852898-C-G	c.1292-16266G>C	-	IntronicSNV	-	10/11	1
4-9852898-C-T	c.1292-16266G>A	-	IntronicSNV	-	10/11	1
4-9853326-C-T	c.1292-16694G>A	-	IntronicSNV	-	10/11	1
4-9856469-A-G	c.1292-19837T>C	-	IntronicSNV	-	10/11	1
4-9857956-G-T	c.1292-21324C>A	-	IntronicSNV	-	10/11	1
4-9858457-G-A	c.1292-21825C>T	-	IntronicSNV	-	10/11	1
4-9859976-A-G	c.1292-23344T>C	-	IntronicSNV	-	10/11	1
4-9862036-C-T	c.1292-25404G>A	-	IntronicSNV	-	10/11	1
4-9864202-A-G	c.1291+24989T>C	-	IntronicSNV	-	10/11	2
4-9865426-G-A	c.1291+23765C>T	-	IntronicSNV	-	10/11	1
4-9867277-C-G	c.1291+21914G>C	-	IntronicSNV	-	10/11	1
4-9867502-A-G	c.1291+21689T>C	-	IntronicSNV	-	10/11	1
4-9868346-C-T	c.1291+20845G>A	-	IntronicSNV	-	10/11	1
4-9868417-C-G	c.1291+20774G>C	-	IntronicSNV	-	10/11	1
4-9868417-C-T	c.1291+20774G>A	-	IntronicSNV	-	10/11	1
4-9868593-A-T	c.1291+20598T>A	-	IntronicSNV	-	10/11	2
4-9869734-G-C	c.1291+19457C>G	-	IntronicSNV	-	10/11	1
4-9869766-C-G	c.1291+19425G>C	-	IntronicSNV	-	10/11	1
4-9870535-C-T	c.1291+18656G>A	-	IntronicSNV	-	10/11	1
4-9871541-T-C	c.1291+17650A>G	-	IntronicSNV	-	10/11	2
4-9872013-G-A	c.1291+17178C>T	-	IntronicSNV	-	10/11	1
4-9872475-G-A	c.1291+16716C>T	-	IntronicSNV	-	10/11	1
4-9873855-C-A	c.1291+15336G>T	-	IntronicSNV	-	10/11	1
4-9878037-C-T	c.1291+11154G>A	-	IntronicSNV	-	10/11	1
4-9878464-G-C	c.1291+10727C>G	-	IntronicSNV	-	10/11	1
4-9880756-G-A	c.1291+8435C>T	-	IntronicSNV	-	10/11	1
4-9881032-G-A	c.1291+8159C>T	-	IntronicSNV	-	10/11	1
4-9881158-C-A	c.1291+8033G>T	-	IntronicSNV	-	10/11	1
4-9881574-C-G	c.1291+7617G>C	-	IntronicSNV	-	10/11	1
4-9881851-C-G	c.1291+7340G>C	-	IntronicSNV	-	10/11	1
4-9881851-C-T	c.1291+7340G>A	-	IntronicSNV	-	10/11	1
4-9884057-C-T	c.1291+5134G>A	-	IntronicSNV	-	10/11	1
4-9884536-T-C	c.1291+4655A>G	-	IntronicSNV	-	10/11	2
4-9886860-C-A	c.1291+2331G>T	-	IntronicSNV	-	10/11	1
4-9886931-A-C	c.1291+2260T>G	-	IntronicSNV	-	10/11	1
4-9886931-A-T	c.1291+2260T>A	-	IntronicSNV	-	10/11	1
4-9888843-A-G	c.1291+348T>C	-	IntronicSNV	-	10/11	1
4-9888849-G-A	c.1291+342C>T	-	IntronicSNV	-	10/11	1
4-9888849-G-C	c.1291+342C>G	-	IntronicSNV	-	10/11	1
4-9888849-G-T	c.1291+342C>A	-	IntronicSNV	-	10/11	1
4-9888994-C-T	c.1291+197G>A	-	IntronicSNV	-	10/11	1
4-9889042-T-C	c.1291+149A>G	-	IntronicSNV	-	10/11	2
4-9889069-C-T	c.1291+122G>A	-	IntronicSNV	-	10/11	1
4-9889116-G-C	c.1291+75C>G	-	IntronicSNV	-	10/11	1
4-9889161-C-G	c.1291+30G>C	-	IntronicSNV	-	10/11	1
4-9889167-A-T	c.1291+24T>A	-	IntronicSNV	-	10/11	1
4-9889174-A-T	c.1291+17T>A	-	IntronicSNV	-	10/11	1
4-9889191-C-A	c.1291G>T	p.G431C	Missense	10/12	-	1
4-9889192-T-TCC	c.1289_1290insGG	p.G431Efs*8	SpliceDonorInsertion	10/12	-	1
4-9889195-C-A	c.1287G>T	p.G429=	Synonymous	10/12	-	1
4-9889195-C-G	c.1287G>C	p.G429=	Synonymous	10/12	-	1
4-9889195-C-T	c.1287G>A	p.G429=	Synonymous	10/12	-	1
4-9889199-CT-AA	c.1282_1283delinsTT	p.S428F	Missense	10/12	-	1
4-9889204-G-A	c.1278C>T	p.F426=	Synonymous	10/12	-	1
4-9889204-GA-TT	c.1277_1278delinsAA	p.F426*	Nonsense	10/12	-	1
4-9889211-G-C	c.1271C>G	p.A424G	Missense	10/12	-	1
4-9889212-C-T	c.1270G>A	p.A424T	Missense	10/12	-	1
4-9889219-G-A	c.1263C>T	p.A421=	Synonymous	10/12	-	1
4-9889219-G-C	c.1263C>G	p.A421=	Synonymous	10/12	-	1
4-9889219-G-T	c.1263C>A	p.A421=	Synonymous	10/12	-	1
4-9889223-A-G	c.1259T>C	p.L420P	Missense	10/12	-	1
4-9889233-C-T	c.1249G>A	p.V417M	Missense	10/12	-	1
4-9889241-A-G	c.1241T>C	p.L414P	Missense	10/12	-	2
4-9889242-G-A	c.1240C>T	p.L414=	Synonymous	10/12	-	1
4-9889242-G-T	c.1240C>A	p.L414M	Missense	10/12	-	4
4-9889243-G-C	c.1239C>G	p.Y413*	Nonsense	10/12	-	1
4-9889243-G-T	c.1239C>A	p.Y413*	Nonsense	10/12	-	1
4-9889247-G-C	c.1235C>G	p.P412R	Missense	10/12	-	8
4-9889248-G-A	c.1234C>T	p.P412S	Missense	10/12	-	3
4-9889249-G-A	c.1233C>T	p.V411=	Synonymous	10/12	-	1
4-9889254-CA-C	c.1228del	p.W410Gfs*5	Frameshift	10/12	-	1
4-9889256-G-T	c.1226C>A	p.P409H	Missense	10/12	-	1
4-9889259-G-A	c.1223C>T	p.A408V	Missense	10/12	-	2
4-9889260-C-G	c.1222G>C	p.A408P	Missense	10/12	-	1
4-9889261-G-A	c.1221C>T	p.H407=	Synonymous	10/12	-	3
4-9889448-G-A	c.1216-182C>T	-	IntronicSNV	-	9/11	2
4-9889487-G-A	c.1216-221C>T	-	IntronicSNV	-	9/11	2
4-9889730-G-GGGCCT	c.1216-469_1216-465dup	-	IntronicInsertion	-	9/11	1
4-9890359-C-G	c.1216-1093G>C	-	IntronicSNV	-	9/11	1
4-9890359-C-T	c.1216-1093G>A	-	IntronicSNV	-	9/11	1
4-9890708-A-G	c.1216-1442T>C	-	IntronicSNV	-	9/11	2
4-9890841-G-GAA	c.1215+1392_1215+1393insTT	-	IntronicInsertion	-	9/11	1
4-9890998-G-C	c.1215+1236C>G	-	IntronicSNV	-	9/11	2
4-9890998-G-T	c.1215+1236C>A	-	IntronicSNV	-	9/11	2
4-9891031-C-T	c.1215+1203G>A	-	IntronicSNV	-	9/11	2
4-9892061-C-A	c.1215+173G>T	-	IntronicSNV	-	9/11	4
4-9892102-T-C	c.1215+132A>G	-	IntronicSNV	-	9/11	6
4-9892172-G-A	c.1215+62C>T	-	IntronicSNV	-	9/11	2
4-9892233-C-T	c.1215+1G>A	-	IntronicSNV	-	9/11	3
4-9892238-A-T	c.1211T>A	p.L404Q	Missense	9/12	-	1
4-9892240-G-A	c.1209C>T	p.T403=	Synonymous	9/12	-	1
4-9892241-G-A	c.1208C>T	p.T403I	Missense	9/12	-	2
4-9892243-C-T	c.1206G>A	p.L402=	Synonymous	9/12	-	3
4-9892245-G-A	c.1204C>T	p.L402=	Synonymous	9/12	-	1
4-9892246-C-A	c.1203G>T	p.T401=	Synonymous	9/12	-	4
4-9892246-C-G	c.1203G>C	p.T401=	Synonymous	9/12	-	4
4-9892246-C-T	c.1203G>A	p.T401=	Synonymous	9/12	-	4
4-9892247-G-A	c.1202C>T	p.T401M	Missense	9/12	-	1
4-9892247-G-T	c.1202C>A	p.T401K	Missense	9/12	-	1
4-9892251-T-A	c.1198A>T	p.I400F	Missense	9/12	-	1
4-9892252-G-A	c.1197C>T	p.T399=	Synonymous	9/12	-	4
4-9892253-G-A	c.1196C>T	p.T399I	Missense	9/12	-	1
4-9892256-A-C	c.1193T>G	p.L398R	Missense	9/12	-	1
4-9892259-G-A	c.1190C>T	p.T397I	Missense	9/12	-	1
4-9892259-G-T	c.1190C>A	p.T397N	Missense	9/12	-	1
4-9892263-C-G	c.1186G>C	p.G396R	Missense	9/12	-	2
4-9892263-C-T	c.1186G>A	p.G396R	Missense	9/12	-	2
4-9892267-G-A	c.1182C>T	p.F394=	Synonymous	9/12	-	3
4-9892272-G-A	c.1177C>T	p.L393F	Missense	9/12	-	4
4-9892275-C-T	c.1174G>A	p.G392S	Missense	9/12	-	4
4-9892276-C-T	c.1173G>A	p.M391I	Missense	9/12	-	1
4-9892278-T-G	c.1171A>C	p.M391L	Missense	9/12	-	1
4-9892279-G-A	c.1170C>T	p.L390=	Synonymous	9/12	-	3
4-9892279-G-C	c.1170C>G	p.L390=	Synonymous	9/12	-	1
4-9892279-G-T	c.1170C>A	p.L390=	Synonymous	9/12	-	1
4-9892285-A-G	c.1164T>C	p.F388=	Synonymous	9/12	-	2
4-9892302-G-A	c.1147C>T	p.L383F	Missense	9/12	-	4
4-9892303-G-A	c.1146C>T	p.P382=	Synonymous	9/12	-	2
4-9892303-G-C	c.1146C>G	p.P382=	Synonymous	9/12	-	1
4-9892303-G-T	c.1146C>A	p.P382=	Synonymous	9/12	-	1
4-9892304-G-A	c.1145C>T	p.P382L	Missense	9/12	-	2
4-9892307-C-T	c.1142G>A	p.R381K	Missense	9/12	-	3
4-9892308-T-A	c.1141A>T	p.R381*	Nonsense	9/12	-	3
4-9892309-CCG-ACA	c.1138_1140delinsTGT	p.R380C	Missense	9/12	-	2
4-9892309-C-T	c.1140G>A	p.R380=	Synonymous	9/12	-	2
4-9892310-C-T	c.1139G>A	p.R380Q	Missense	9/12	-	5
4-9892311-G-A	c.1138C>T	p.R380W	Missense	9/12	-	20
4-9892311-G-C	c.1138C>G	p.R380G	Missense	9/12	-	2
4-9892313-C-T	c.1136G>A	p.G379E	Missense	9/12	-	5
4-9892317-G-T	c.1132C>A	p.L378M	Missense	9/12	-	2
4-9892321-C-T	c.1128G>A	p.E376=	Synonymous	9/12	-	1
4-9892325-A-G	c.1124T>C	p.I375T	Missense	9/12	-	1
4-9892331-A-C	c.1118T>G	p.L373W	Missense	9/12	-	1
4-9892330-C-T	c.1119G>A	p.L373=	Synonymous	9/12	-	2
4-9892332-A-G	c.1117T>C	p.L373=	Synonymous	9/12	-	2
4-9892332-A-T	c.1117T>A	p.L373M	Missense	9/12	-	1
4-9892335-C-A	c.1114G>T	p.G372C	Missense	9/12	-	1
4-9892342-C-T	c.1114-7G>A	-	IntronicSNV	-	8/11	1
4-9892424-C-G	c.1114-89G>C	-	IntronicSNV	-	8/11	1
4-9893197-C-T	c.1114-862G>A	-	IntronicSNV	-	8/11	1
4-9893403-G-A	c.1114-1068C>T	-	IntronicSNV	-	8/11	1
4-9893577-A-C	c.1114-1242T>G	-	IntronicSNV	-	8/11	1
4-9893577-A-G	c.1114-1242T>C	-	IntronicSNV	-	8/11	1
4-9895070-T-C	c.1114-2735A>G	-	IntronicSNV	-	8/11	1
4-9895860-A-C	c.1114-3525T>G	-	IntronicSNV	-	8/11	3
4-9896293-C-A	c.1114-3958G>T	-	IntronicSNV	-	8/11	2
4-9896642-T-C	c.1114-4307A>G	-	IntronicSNV	-	8/11	1
4-9896642-T-G	c.1114-4307A>C	-	IntronicSNV	-	8/11	1
4-9896734-T-C	c.1114-4399A>G	-	IntronicSNV	-	8/11	1
4-9897342-T-G	c.1114-5007A>C	-	IntronicSNV	-	8/11	1
4-9897372-G-A	c.1114-5037C>T	-	IntronicSNV	-	8/11	1
4-9897520-C-A	c.1114-5185G>T	-	IntronicSNV	-	8/11	1
4-9897885-G-A	c.1114-5550C>T	-	IntronicSNV	-	8/11	1
4-9898003-T-C	c.1114-5668A>G	-	IntronicSNV	-	8/11	1
4-9898207-T-C	c.1114-5872A>G	-	IntronicSNV	-	8/11	1
4-9900314-T-C	c.1114-7979A>G	-	IntronicSNV	-	8/11	1
4-9900745-C-A	c.1114-8410G>T	-	IntronicSNV	-	8/11	1
4-9900745-C-G	c.1114-8410G>C	-	IntronicSNV	-	8/11	1
4-9900745-C-T	c.1114-8410G>A	-	IntronicSNV	-	8/11	1
4-9901563-C-T	c.1113+8296G>A	-	IntronicSNV	-	8/11	1
4-9901874-G-A	c.1113+7985C>T	-	IntronicSNV	-	8/11	1
4-9902230-A-G	c.1113+7629T>C	-	IntronicSNV	-	8/11	1
4-9902876-G-A	c.1113+6983C>T	-	IntronicSNV	-	8/11	1
4-9903121-A-G	c.1113+6738T>C	-	IntronicSNV	-	8/11	1
4-9903121-A-T	c.1113+6738T>A	-	IntronicSNV	-	8/11	1
4-9903518-G-C	c.1113+6341C>G	-	IntronicSNV	-	8/11	1
4-9903518-G-T	c.1113+6341C>A	-	IntronicSNV	-	8/11	1
4-9907263-G-C	c.1113+2596C>G	-	IntronicSNV	-	8/11	1
4-9907663-C-A	c.1113+2196G>T	-	IntronicSNV	-	8/11	1
4-9908276-C-T	c.1113+1583G>A	-	IntronicSNV	-	8/11	1
4-9908791-C-A	c.1113+1068G>T	-	IntronicSNV	-	8/11	1
4-9908791-C-G	c.1113+1068G>C	-	IntronicSNV	-	8/11	1
4-9909295-T-C	c.1113+564A>G	-	IntronicSNV	-	8/11	1
4-9909850-T-C	c.1113+9A>G	-	IntronicSNV	-	8/11	2
4-9909850-T-G	c.1113+9A>C	-	IntronicSNV	-	8/11	4
4-9909861-A-G	c.1111T>C	p.S371P	Missense	8/12	-	1
4-9909867-C-T	c.1105G>A	p.V369I	Missense	8/12	-	2
4-9909868-G-A	c.1104C>T	p.A368=	Synonymous	8/12	-	1
4-9909868-G-C	c.1104C>G	p.A368=	Synonymous	8/12	-	1
4-9909868-G-T	c.1104C>A	p.A368=	Synonymous	8/12	-	1
4-9909877-AG-CA	c.1094_1095delinsTG	p.T365M	Missense	8/12	-	1
4-9909881-T-A	c.1091A>T	p.E364V	Missense	8/12	-	1
4-9909882-C-T	c.1090G>A	p.E364K	Missense	8/12	-	2
4-9909883-G-A	c.1089C>T	p.I363=	Synonymous	8/12	-	2
4-9909883-G-T	c.1089C>A	p.I363=	Synonymous	8/12	-	1
4-9909887-C-A	c.1085G>T	p.G362V	Missense	8/12	-	1
4-9909887-C-T	c.1085G>A	p.G362D	Missense	8/12	-	1
4-9909888-C-G	c.1084G>C	p.G362R	Missense	8/12	-	1
4-9909888-C-T	c.1084G>A	p.G362S	Missense	8/12	-	2
4-9909889-C-A	c.1083G>T	p.G361=	Synonymous	8/12	-	3
4-9909890-C-A	c.1082G>T	p.G361V	Missense	8/12	-	2
4-9909890-C-T	c.1082G>A	p.G361E	Missense	8/12	-	1
4-9909901-G-A	c.1071C>T	p.T357=	Synonymous	8/12	-	1
4-9909901-G-C	c.1071C>G	p.T357=	Synonymous	8/12	-	1
4-9909901-G-T	c.1071C>A	p.T357=	Synonymous	8/12	-	1
4-9909906-C-T	c.1066G>A	p.V356I	Missense	8/12	-	2
4-9909907-G-A	c.1065C>T	p.Y355=	Synonymous	8/12	-	1
4-9909912-G-A	c.1060C>T	p.P354S	Missense	8/12	-	2
4-9909913-G-A	c.1059C>T	p.I353=	Synonymous	8/12	-	2
4-9909916-C-A	c.1056G>T	p.K352N	Missense	8/12	-	1
4-9909921-C-G	c.1051G>C	p.A351P	Missense	8/12	-	1
4-9909922-C-A	c.1050G>T	p.P350=	Synonymous	8/12	-	2
4-9909922-C-G	c.1050G>C	p.P350=	Synonymous	8/12	-	2
4-9909922-C-T	c.1050G>A	p.P350=	Synonymous	8/12	-	3
4-9909923-G-A	c.1049C>T	p.P350L	Missense	8/12	-	53
4-9909923-G-C	c.1049C>G	p.P350R	Missense	8/12	-	17
4-9909923-GG-TA	c.1048_1049delinsTA	p.P350*	Nonsense	8/12	-	1
4-9909924-G-A	c.1048C>T	p.P350S	Missense	8/12	-	5
4-9909927-G-A	c.1045C>T	p.P349S	Missense	8/12	-	1
4-9909928-G-A	c.1044C>T	p.I348=	Synonymous	8/12	-	1
4-9909932-C-A	c.1040G>T	p.G347V	Missense	8/12	-	1
4-9909932-C-T	c.1040G>A	p.G347E	Missense	8/12	-	1
4-9909933-C-A	c.1039G>T	p.G347W	Missense	8/12	-	1
4-9909935-G-A	c.1037C>T	p.A346V	Missense	8/12	-	1
4-9909941-C-A	c.1031G>T	p.G344V	Missense	8/12	-	1
4-9909956-G-A	c.1016C>T	p.T339I	Missense	8/12	-	1
4-9909964-C-T	c.1008G>A	p.W336*	Nonsense	8/12	-	1
4-9909965-C-T	c.1007G>A	p.W336*	Nonsense	8/12	-	1
4-9909968-A-G	c.1004T>C	p.I335T	Missense	8/12	-	1
4-9909969-T-C	c.1003A>G	p.I335V	Missense	8/12	-	1
4-9910441-G-A	c.1003-472C>T	-	IntronicSNV	-	7/11	1
4-9910635-C-T	c.1003-666G>A	-	IntronicSNV	-	7/11	1
4-9910663-C-A	c.1003-694G>T	-	IntronicSNV	-	7/11	1
4-9910663-C-G	c.1003-694G>C	-	IntronicSNV	-	7/11	1
4-9914981-C-G	c.1003-5012G>C	-	IntronicSNV	-	7/11	1
4-9914981-C-T	c.1003-5012G>A	-	IntronicSNV	-	7/11	1
4-9915325-T-C	c.1003-5356A>G	-	IntronicSNV	-	7/11	2
4-9915741-C-T	c.1003-5772G>A	-	IntronicSNV	-	7/11	33
4-9915850-A-G	c.1003-5881T>C	-	IntronicSNV	-	7/11	4
4-9915870-T-C	c.1003-5901A>G	-	IntronicSNV	-	7/11	1
4-9915874-A-G	c.1003-5905T>C	-	IntronicSNV	-	7/11	1
4-9916180-T-C	c.1002+5829A>G	-	IntronicSNV	-	7/11	1
4-9916209-T-C	c.1002+5800A>G	-	IntronicSNV	-	7/11	2
4-9917507-G-A	c.1002+4502C>T	-	IntronicSNV	-	7/11	1
4-9918433-G-A	c.1002+3576C>T	-	IntronicSNV	-	7/11	1
4-9918492-A-C	c.1002+3517T>G	-	IntronicSNV	-	7/11	2
4-9918492-A-G	c.1002+3517T>C	-	IntronicSNV	-	7/11	2
4-9918864-GA-G	c.1002+3144del	-	IntronicDeletion	-	7/11	1
4-9920347-T-C	c.1002+1662A>G	-	IntronicSNV	-	7/11	12
4-9920606-T-A	c.1002+1403A>T	-	IntronicSNV	-	7/11	3
4-9921370-C-G	c.1002+639G>C	-	IntronicSNV	-	7/11	1
4-9921931-T-A	c.1002+78A>T	-	IntronicSNV	-	7/11	7
4-9921931-T-C	c.1002+78A>G	-	IntronicSNV	-	7/11	9
4-9921937-C-T	c.1002+72G>A	-	IntronicSNV	-	7/11	1
4-9921941-G-A	c.1002+68C>T	-	IntronicSNV	-	7/11	1
4-9922008-C-G	c.1002+1G>C	-	IntronicSNV	-	7/11	1
4-9922010-G-A	c.1001C>T	p.A334V	Missense	7/12	-	1
4-9922010-G-T	c.1001C>A	p.A334E	Missense	7/12	-	1
4-9922011-C-A	c.1000G>T	p.A334S	Missense	7/12	-	2
4-9922012-A-G	c.999T>C	p.N333=	Synonymous	7/12	-	1
4-9922013-T-C	c.998A>G	p.N333S	Missense	7/12	-	7
4-9922015-GAG-CAT	c.994_996delinsATG	p.L332M	Missense	7/12	-	1
4-9922022-CA-GT	c.988_989delinsAC	p.C330T	Missense	7/12	-	1
4-9922024-G-A	c.987C>T	p.L329=	Synonymous	7/12	-	1
4-9922028-T-C	c.983A>G	p.Q328R	Missense	7/12	-	1
4-9922029-G-A	c.982C>T	p.Q328*	Nonsense	7/12	-	1
4-9922030-G-A	c.981C>T	p.Y327=	Synonymous	7/12	-	1
4-9922039-C-A	c.972G>T	p.M324I	Missense	7/12	-	1
4-9922044-T-A	c.967A>T	p.T323S	Missense	7/12	-	1
4-9922053-C-T	c.958G>A	p.V320M	Missense	7/12	-	5
4-9922054-G-T	c.957C>A	p.T319=	Synonymous	7/12	-	1
4-9922059-C-T	c.952G>A	p.V318I	Missense	7/12	-	1
4-9922061-A-G	c.950T>C	p.V317A	Missense	7/12	-	2
4-9922062-C-T	c.949G>A	p.V317M	Missense	7/12	-	1
4-9922065-G-C	c.946C>G	p.Q316E	Missense	7/12	-	6
4-9922067-C-T	c.944G>A	p.W315*	Nonsense	7/12	-	2
4-9922070-C-T	c.941G>A	p.R314H	Missense	7/12	-	3
4-9922071-G-A	c.940C>T	p.R314C	Missense	7/12	-	5
4-9922074-C-T	c.937G>A	p.V313I	Missense	7/12	-	3
4-9922076-T-C	c.935A>G	p.Y312C	Missense	7/12	-	1
4-9922078-G-A	c.933C>T	p.P311=	Synonymous	7/12	-	1
4-9922078-G-C	c.933C>G	p.P311=	Synonymous	7/12	-	1
4-9922078-G-T	c.933C>A	p.P311=	Synonymous	7/12	-	1
4-9922080-G-C	c.931C>G	p.P311A	Missense	7/12	-	1
4-9922081-A-C	c.930T>G	p.A310=	Synonymous	7/12	-	1
4-9922081-A-G	c.930T>C	p.A310=	Synonymous	7/12	-	1
4-9922081-A-T	c.930T>A	p.A310=	Synonymous	7/12	-	1
4-9922082-G-T	c.929C>A	p.A310D	Missense	7/12	-	1
4-9922090-C-T	c.921G>A	p.L307=	Synonymous	7/12	-	1
4-9922091-A-G	c.920T>C	p.L307P	Missense	7/12	-	2
4-9922095-C-G	c.916G>C	p.E306Q	Missense	7/12	-	1
4-9922091-AGCTCCAGCACGGACACCAGGCGGATGCTCCTCTGCACGCG-A	c.880_919del	p.R294Cfs*2	Frameshift	7/12	-	1
4-9922101-C-T	c.910G>A	p.V304M	Missense	7/12	-	4
4-9922102-G-A	c.909C>T	p.S303=	Synonymous	7/12	-	1
4-9922103-G-C	c.908C>G	p.S303C	Missense	7/12	-	1
4-9922103-G-T	c.908C>A	p.S303Y	Missense	7/12	-	1
4-9922106-A-C	c.905T>G	p.V302G	Missense	7/12	-	1
4-9922107-C-T	c.904G>A	p.V302M	Missense	7/12	-	3
4-9922112-C-T	c.899G>A	p.R300H	Missense	7/12	-	5
4-9922113-G-A	c.898C>T	p.R300C	Missense	7/12	-	1
4-9922116-T-C	c.895A>G	p.I299V	Missense	7/12	-	1
4-9922118-C-A	c.893G>T	p.S298I	Missense	7/12	-	2
4-9922118-C-T	c.893G>A	p.S298N	Missense	7/12	-	2
4-9922119-T-A	c.892A>T	p.S298C	Missense	7/12	-	1
4-9922120-C-T	c.891G>A	p.R297=	Synonymous	7/12	-	1
4-9922128-C-T	c.883G>A	p.V295M	Missense	7/12	-	1
4-9922129-G-A	c.882C>T	p.R294=	Synonymous	7/12	-	2
4-9922129-G-C	c.882C>G	p.R294=	Synonymous	7/12	-	2
4-9922129-G-T	c.882C>A	p.R294=	Synonymous	7/12	-	2
4-9922130-C-T	c.881G>A	p.R294H	Missense	7/12	-	70
4-9922131-G-A	c.880C>T	p.R294C	Missense	7/12	-	1
4-9922133-C-T	c.878G>A	p.S293N	Missense	7/12	-	3
4-9922137-C-T	c.874G>A	p.E292K	Missense	7/12	-	3
4-9922138-A-C	c.873T>G	p.A291=	Synonymous	7/12	-	1
4-9922138-A-G	c.873T>C	p.A291=	Synonymous	7/12	-	1
4-9922138-A-T	c.873T>A	p.A291=	Synonymous	7/12	-	1
4-9922139-G-A	c.872C>T	p.A291V	Missense	7/12	-	1
4-9922141-C-A	c.870G>T	p.L290=	Synonymous	7/12	-	1
4-9922141-C-G	c.870G>C	p.L290=	Synonymous	7/12	-	1
4-9922141-C-T	c.870G>A	p.L290=	Synonymous	7/12	-	1
4-9922143-G-A	c.868C>T	p.L290=	Synonymous	7/12	-	1
4-9922147-C-A	c.864G>T	p.E288D	Missense	7/12	-	1
4-9922147-C-G	c.864G>C	p.E288D	Missense	7/12	-	1
4-9922158-C-T	c.853G>A	p.E285K	Missense	7/12	-	1
4-9922163-G-A	c.848C>T	p.S283F	Missense	7/12	-	1
4-9922163-GA-AT	c.847_848delinsAT	p.S283I	Missense	7/12	-	2
4-9922164-A-G	c.847T>C	p.S283P	Missense	7/12	-	2
4-9922165-A-C	c.846T>G	p.V282=	Synonymous	7/12	-	2
4-9922165-A-G	c.846T>C	p.V282=	Synonymous	7/12	-	2
4-9922165-A-T	c.846T>A	p.V282=	Synonymous	7/12	-	2
4-9922166-AC-TG	c.844_845delinsCA	p.V282H	Missense	7/12	-	1
4-9922167-C-G	c.844G>C	p.V282L	Missense	7/12	-	1
4-9922167-C-T	c.844G>A	p.V282I	Missense	7/12	-	104
4-9922169-T-C	c.842A>G	p.D281G	Missense	7/12	-	1
4-9922170-C-G	c.841G>C	p.D281H	Missense	7/12	-	18
4-9922170-C-T	c.841G>A	p.D281N	Missense	7/12	-	2
4-9922173-C-A	c.838G>T	p.A280S	Missense	7/12	-	1
4-9922178-C-T	c.833G>A	p.G278D	Missense	7/12	-	1
4-9922179-C-G	c.832G>C	p.G278R	Missense	7/12	-	1
4-9922179-C-T	c.832G>A	p.G278S	Missense	7/12	-	1
4-9922183-G-C	c.828C>G	p.F276L	Missense	7/12	-	2
4-9922187-G-A	c.824C>T	p.T275M	Missense	7/12	-	9
4-9922190-T-C	c.821A>G	p.Q274R	Missense	7/12	-	3
4-9922192-G-C	c.819C>G	p.F273L	Missense	7/12	-	1
4-9922573-T-G	c.815-377A>C	-	IntronicSNV	-	6/11	1
4-9923004-G-A	c.815-808C>T	-	IntronicSNV	-	6/11	43
4-9923004-G-T	c.815-808C>A	-	IntronicSNV	-	6/11	43
4-9923835-C-T	c.815-1639G>A	-	IntronicSNV	-	6/11	1
4-9924319-A-G	c.815-2123T>C	-	IntronicSNV	-	6/11	11
4-9924336-A-C	c.815-2140T>G	-	IntronicSNV	-	6/11	1
4-9925524-T-C	c.815-3328A>G	-	IntronicSNV	-	6/11	2
4-9925526-C-A	c.815-3330G>T	-	IntronicSNV	-	6/11	2
4-9925526-C-T	c.815-3330G>A	-	IntronicSNV	-	6/11	2
4-9925603-A-G	c.815-3407T>C	-	IntronicSNV	-	6/11	1
4-9925692-C-G	c.815-3496G>C	-	IntronicSNV	-	6/11	5
4-9926051-A-G	c.815-3855T>C	-	IntronicSNV	-	6/11	2
4-9926613-T-C	c.815-4417A>G	-	IntronicSNV	-	6/11	2
4-9926967-T-G	c.815-4771A>C	-	IntronicSNV	-	6/11	40
4-9927553-A-G	c.815-5357T>C	-	IntronicSNV	-	6/11	2
4-9927620-T-A	c.815-5424A>T	-	IntronicSNV	-	6/11	5
4-9927620-T-C	c.815-5424A>G	-	IntronicSNV	-	6/11	5
4-9927905-T-C	c.815-5709A>G	-	IntronicSNV	-	6/11	1
4-9927972-G-A	c.815-5776C>T	-	IntronicSNV	-	6/11	1
4-9929575-A-G	c.815-7379T>C	-	IntronicSNV	-	6/11	1
4-9930219-G-A	c.815-8023C>T	-	IntronicSNV	-	6/11	1
4-9930962-T-C	c.815-8766A>G	-	IntronicSNV	-	6/11	2
4-9930962-T-G	c.815-8766A>C	-	IntronicSNV	-	6/11	2
4-9931645-C-G	c.815-9449G>C	-	IntronicSNV	-	6/11	2
4-9932882-C-T	c.814+10655G>A	-	IntronicSNV	-	6/11	1
4-9934744-G-A	c.814+8793C>T	-	IntronicSNV	-	6/11	30
4-9934744-G-T	c.814+8793C>A	-	IntronicSNV	-	6/11	30
4-9935910-A-G	c.814+7627T>C	-	IntronicSNV	-	6/11	37
4-9938773-A-C	c.814+4764T>G	-	IntronicSNV	-	6/11	2
4-9938773-A-G	c.814+4764T>C	-	IntronicSNV	-	6/11	2
4-9938969-T-C	c.814+4568A>G	-	IntronicSNV	-	6/11	9
4-9939205-G-A	c.814+4332C>T	-	IntronicSNV	-	6/11	2
4-9939818-G-A	c.814+3719C>T	-	IntronicSNV	-	6/11	1
4-9940806-G-A	c.814+2731C>T	-	IntronicSNV	-	6/11	7
4-9941219-T-G	c.814+2318A>C	-	IntronicSNV	-	6/11	1
4-9941218-GT-G	c.814+2318del	-	IntronicDeletion	-	6/11	1
4-9941262-C-T	c.814+2275G>A	-	IntronicSNV	-	6/11	1
4-9941434-C-T	c.814+2103G>A	-	IntronicSNV	-	6/11	4
4-9942577-T-C	c.814+960A>G	-	IntronicSNV	-	6/11	1
4-9942577-T-G	c.814+960A>C	-	IntronicSNV	-	6/11	1
4-9942642-G-C	c.814+895C>G	-	IntronicSNV	-	6/11	1
4-9942784-A-T	c.814+753T>A	-	IntronicSNV	-	6/11	1
4-9943475-A-G	c.814+62T>C	-	IntronicSNV	-	6/11	1
4-9943499-A-T	c.814+38T>A	-	IntronicSNV	-	6/11	1
4-9943541-C-A	c.810G>T	p.V270=	Synonymous	6/12	-	1
4-9943543-C-T	c.808G>A	p.V270M	Missense	6/12	-	2
4-9943550-T-A	c.801A>T	p.A267=	Synonymous	6/12	-	1
4-9943554-T-C	c.797A>G	p.E266G	Missense	6/12	-	1
4-9943555-C-T	c.796G>A	p.E266K	Missense	6/12	-	5
4-9943558-T-C	c.793A>G	p.N265D	Missense	6/12	-	2
4-9943563-T-G	c.788A>C	p.K263T	Missense	6/12	-	1
4-9943569-AA-GG	c.781_782delinsCC	p.L261P	Missense	6/12	-	1
4-9943577-G-A	c.774C>T	p.Y258=	Synonymous	6/12	-	3
4-9943578-T-C	c.773A>G	p.Y258C	Missense	6/12	-	1
4-9943580-G-A	c.771C>T	p.R257=	Synonymous	6/12	-	1
4-9943580-GCG-CTT	c.769_771delinsAAG	p.R257K	Missense	6/12	-	2
4-9943581-C-T	c.770G>A	p.R257H	Missense	6/12	-	2
4-9943582-G-A	c.769C>T	p.R257C	Missense	6/12	-	3
4-9943585-G-C	c.766C>G	p.P256A	Missense	6/12	-	1
4-9943587-C-T	c.764G>A	p.S255N	Missense	6/12	-	4
4-9943589-G-C	c.762C>G	p.D254E	Missense	6/12	-	1
4-9943590-T-C	c.761A>G	p.D254G	Missense	6/12	-	2
4-9943591-C-A	c.760G>T	p.D254Y	Missense	6/12	-	1
4-9943593-G-A	c.758C>T	p.P253L	Missense	6/12	-	1
4-9943594-G-A	c.757C>T	p.P253S	Missense	6/12	-	2
4-9943595-G-A	c.756C>T	p.L252=	Synonymous	6/12	-	1
4-9943597-G-A	c.754C>T	p.L252F	Missense	6/12	-	1
4-9943598-A-G	c.753T>C	p.F251=	Synonymous	6/12	-	1
4-9943599-A-G	c.752T>C	p.F251S	Missense	6/12	-	1
4-9943601-G-T	c.750C>A	p.P250=	Synonymous	6/12	-	1
4-9943602-G-A	c.749C>T	p.P250L	Missense	6/12	-	2
4-9943605-A-T	c.746T>A	p.L249H	Missense	6/12	-	3
4-9943610-C-T	c.741G>A	p.L247=	Synonymous	6/12	-	2
4-9943611-A-G	c.740T>C	p.L247P	Missense	6/12	-	1
4-9943615-G-T	c.736C>A	p.L246M	Missense	6/12	-	1
4-9943619-G-A	c.732C>T	p.V244=	Synonymous	6/12	-	1
4-9943620-A-T	c.731T>A	p.V244D	Missense	6/12	-	1
4-9943624-C-G	c.727G>C	p.V243L	Missense	6/12	-	1
4-9943624-C-T	c.727G>A	p.V243I	Missense	6/12	-	2
4-9943626-G-A	c.725C>T	p.A242V	Missense	6/12	-	2
4-9943631-G-T	c.720C>A	p.V240=	Synonymous	6/12	-	1
4-9943633-C-A	c.718G>T	p.V240F	Missense	6/12	-	1
4-9943633-C-G	c.718G>C	p.V240L	Missense	6/12	-	1
4-9943642-C-T	c.709G>A	p.V237M	Missense	6/12	-	3
4-9943644-C-A	c.707G>T	p.G236V	Missense	6/12	-	1
4-9943645-C-A	c.706G>T	p.G236*	Nonsense	6/12	-	1
4-9943645-C-T	c.706G>A	p.G236R	Missense	6/12	-	1
4-9943647-A-G	c.704T>C	p.F235S	Missense	6/12	-	1
4-9943652-G-A	c.699C>T	p.Y233=	Synonymous	6/12	-	2
4-9943658-C-T	c.693G>A	p.W231*	Nonsense	6/12	-	2
4-9943659-C-T	c.692G>A	p.W231*	Nonsense	6/12	-	1
4-9943660-A-G	c.691T>C	p.W231R	Missense	6/12	-	1
4-9943661-G-T	c.690C>A	p.T230=	Synonymous	6/12	-	1
4-9943662-G-C	c.689C>G	p.T230S	Missense	6/12	-	1
4-9943663-T-A	c.688A>T	p.T230S	Missense	6/12	-	1
4-9943663-T-C	c.688A>G	p.T230A	Missense	6/12	-	1
4-9943665-C-A	c.686G>T	p.S229I	Missense	6/12	-	1
4-9943695-G-A	c.682-26C>T	-	IntronicSNV	-	5/11	1
4-9943700-G-A	c.682-31C>T	-	IntronicSNV	-	5/11	8
4-9943766-C-G	c.682-97G>C	-	IntronicSNV	-	5/11	1
4-9944052-A-G	c.682-383T>C	-	IntronicSNV	-	5/11	28
4-9944650-T-G	c.682-981A>C	-	IntronicSNV	-	5/11	2
4-9945296-C-A	c.682-1627G>T	-	IntronicSNV	-	5/11	2
4-9945296-C-T	c.682-1627G>A	-	IntronicSNV	-	5/11	2
4-9945792-G-C	c.682-2123C>G	-	IntronicSNV	-	5/11	3
4-9946095-G-A	c.682-2426C>T	-	IntronicSNV	-	5/11	4
4-9946163-T-C	c.682-2494A>G	-	IntronicSNV	-	5/11	2
4-9946656-C-A	c.682-2987G>T	-	IntronicSNV	-	5/11	6
4-9947121-T-C	c.682-3452A>G	-	IntronicSNV	-	5/11	3
4-9947278-T-C	c.682-3609A>G	-	IntronicSNV	-	5/11	1
4-9947590-G-A	c.682-3921C>T	-	IntronicSNV	-	5/11	1
4-9947590-G-C	c.682-3921C>G	-	IntronicSNV	-	5/11	1
4-9947658-C-G	c.682-3989G>C	-	IntronicSNV	-	5/11	3
4-9947658-C-T	c.682-3989G>A	-	IntronicSNV	-	5/11	3
4-9947811-A-G	c.682-4142T>C	-	IntronicSNV	-	5/11	3
4-9948077-C-A	c.682-4408G>T	-	IntronicSNV	-	5/11	3
4-9948077-C-T	c.682-4408G>A	-	IntronicSNV	-	5/11	3
4-9948461-G-A	c.682-4792C>T	-	IntronicSNV	-	5/11	3
4-9948564-T-A	c.682-4895A>T	-	IntronicSNV	-	5/11	2
4-9948564-T-C	c.682-4895A>G	-	IntronicSNV	-	5/11	2
4-9948829-C-T	c.682-5160G>A	-	IntronicSNV	-	5/11	1
4-9948870-T-C	c.682-5201A>G	-	IntronicSNV	-	5/11	1
4-9949745-C-T	c.682-6076G>A	-	IntronicSNV	-	5/11	1
4-9950537-C-T	c.682-6868G>A	-	IntronicSNV	-	5/11	1
4-9950705-C-A	c.682-7036G>T	-	IntronicSNV	-	5/11	7
4-9951120-G-T	c.682-7451C>A	-	IntronicSNV	-	5/11	1
4-9951221-T-C	c.682-7552A>G	-	IntronicSNV	-	5/11	2
4-9951264-C-T	c.682-7595G>A	-	IntronicSNV	-	5/11	1
4-9951819-C-T	c.682-8150G>A	-	IntronicSNV	-	5/11	6
4-9951956-C-T	c.682-8287G>A	-	IntronicSNV	-	5/11	1
4-9952266-G-A	c.682-8597C>T	-	IntronicSNV	-	5/11	3
4-9953297-T-A	c.682-9628A>T	-	IntronicSNV	-	5/11	1
4-9953297-T-C	c.682-9628A>G	-	IntronicSNV	-	5/11	1
4-9953361-A-G	c.682-9692T>C	-	IntronicSNV	-	5/11	1
4-9953940-C-T	c.682-10271G>A	-	IntronicSNV	-	5/11	1
4-9954005-T-A	c.682-10336A>T	-	IntronicSNV	-	5/11	1
4-9954005-T-C	c.682-10336A>G	-	IntronicSNV	-	5/11	1
4-9954450-G-A	c.682-10781C>T	-	IntronicSNV	-	5/11	1
4-9954630-G-A	c.682-10961C>T	-	IntronicSNV	-	5/11	1
4-9954630-G-C	c.682-10961C>G	-	IntronicSNV	-	5/11	1
4-9954708-G-A	c.682-11039C>T	-	IntronicSNV	-	5/11	1
4-9954708-G-C	c.682-11039C>G	-	IntronicSNV	-	5/11	1
4-9954758-A-T	c.682-11089T>A	-	IntronicSNV	-	5/11	1
4-9954893-C-G	c.682-11224G>C	-	IntronicSNV	-	5/11	1
4-9954893-C-T	c.682-11224G>A	-	IntronicSNV	-	5/11	1
4-9954918-A-G	c.682-11249T>C	-	IntronicSNV	-	5/11	1
4-9955198-C-T	c.682-11529G>A	-	IntronicSNV	-	5/11	3
4-9955936-A-G	c.682-12267T>C	-	IntronicSNV	-	5/11	1
4-9955971-C-A	c.682-12302G>T	-	IntronicSNV	-	5/11	1
4-9955971-C-T	c.682-12302G>A	-	IntronicSNV	-	5/11	1
4-9956079-C-T	c.682-12410G>A	-	IntronicSNV	-	5/11	12
4-9956096-C-T	c.682-12427G>A	-	IntronicSNV	-	5/11	1
4-9956145-T-A	c.682-12476A>T	-	IntronicSNV	-	5/11	1
4-9956228-C-T	c.682-12559G>A	-	IntronicSNV	-	5/11	1
4-9956547-T-G	c.682-12878A>C	-	IntronicSNV	-	5/11	1
4-9956712-G-C	c.682-13043C>G	-	IntronicSNV	-	5/11	1
4-9958169-A-G	c.682-14500T>C	-	IntronicSNV	-	5/11	1
4-9958180-T-A	c.682-14511A>T	-	IntronicSNV	-	5/11	1
4-9958180-T-G	c.682-14511A>C	-	IntronicSNV	-	5/11	1
4-9958214-C-A	c.682-14545G>T	-	IntronicSNV	-	5/11	1
4-9958214-C-T	c.682-14545G>A	-	IntronicSNV	-	5/11	1
4-9958583-C-T	c.682-14914G>A	-	IntronicSNV	-	5/11	3
4-9958662-G-C	c.682-14993C>G	-	IntronicSNV	-	5/11	1
4-9958662-G-T	c.682-14993C>A	-	IntronicSNV	-	5/11	1
4-9958719-T-C	c.682-15050A>G	-	IntronicSNV	-	5/11	2
4-9958732-T-C	c.682-15063A>G	-	IntronicSNV	-	5/11	3
4-9958788-A-C	c.682-15119T>G	-	IntronicSNV	-	5/11	3
4-9958788-A-T	c.682-15119T>A	-	IntronicSNV	-	5/11	3
4-9958924-T-C	c.682-15255A>G	-	IntronicSNV	-	5/11	1
4-9958924-T-G	c.682-15255A>C	-	IntronicSNV	-	5/11	1
4-9958977-A-G	c.682-15308T>C	-	IntronicSNV	-	5/11	1
4-9959011-G-A	c.682-15342C>T	-	IntronicSNV	-	5/11	1
4-9959090-T-C	c.682-15421A>G	-	IntronicSNV	-	5/11	1
4-9959123-C-G	c.682-15454G>C	-	IntronicSNV	-	5/11	1
4-9959123-C-T	c.682-15454G>A	-	IntronicSNV	-	5/11	1
4-9959275-C-T	c.682-15606G>A	-	IntronicSNV	-	5/11	1
4-9959603-C-T	c.682-15934G>A	-	IntronicSNV	-	5/11	1
4-9960442-G-A	c.682-16773C>T	-	IntronicSNV	-	5/11	3
4-9960498-G-A	c.682-16829C>T	-	IntronicSNV	-	5/11	1
4-9961020-A-AAG	c.682-17352_682-17351insCT	-	IntronicInsertion	-	5/11	1
4-9961368-G-C	c.682-17699C>G	-	IntronicSNV	-	5/11	3
4-9962218-A-C	c.682-18549T>G	-	IntronicSNV	-	5/11	3
4-9962218-A-T	c.682-18549T>A	-	IntronicSNV	-	5/11	3
4-9962765-T-C	c.682-19096A>G	-	IntronicSNV	-	5/11	26
4-9963127-A-G	c.681+19089T>C	-	IntronicSNV	-	5/11	1
4-9964251-T-A	c.681+17965A>T	-	IntronicSNV	-	5/11	1
4-9964380-G-A	c.681+17836C>T	-	IntronicSNV	-	5/11	1
4-9964380-G-T	c.681+17836C>A	-	IntronicSNV	-	5/11	1
4-9964570-C-T	c.681+17646G>A	-	IntronicSNV	-	5/11	2
4-9965000-C-G	c.681+17216G>C	-	IntronicSNV	-	5/11	3
4-9965443-T-C	c.681+16773A>G	-	IntronicSNV	-	5/11	3
4-9965633-C-A	c.681+16583G>T	-	IntronicSNV	-	5/11	1
4-9965633-C-G	c.681+16583G>C	-	IntronicSNV	-	5/11	1
4-9965998-T-C	c.681+16218A>G	-	IntronicSNV	-	5/11	3
4-9966036-A-T	c.681+16180T>A	-	IntronicSNV	-	5/11	1
4-9966105-T-G	c.681+16111A>C	-	IntronicSNV	-	5/11	5
4-9966249-C-T	c.681+15967G>A	-	IntronicSNV	-	5/11	1
4-9966380-A-G	c.681+15836T>C	-	IntronicSNV	-	5/11	42
4-9966422-C-T	c.681+15794G>A	-	IntronicSNV	-	5/11	1
4-9966477-G-A	c.681+15739C>T	-	IntronicSNV	-	5/11	6
4-9966593-T-C	c.681+15623A>G	-	IntronicSNV	-	5/11	1
4-9966610-T-C	c.681+15606A>G	-	IntronicSNV	-	5/11	1
4-9966791-T-A	c.681+15425A>T	-	IntronicSNV	-	5/11	1
4-9966791-T-C	c.681+15425A>G	-	IntronicSNV	-	5/11	1
4-9966791-T-G	c.681+15425A>C	-	IntronicSNV	-	5/11	1
4-9966956-G-A	c.681+15260C>T	-	IntronicSNV	-	5/11	1
4-9967053-T-C	c.681+15163A>G	-	IntronicSNV	-	5/11	1
4-9967536-AT-A	c.681+14679del	-	IntronicDeletion	-	5/11	1
4-9967556-A-C	c.681+14660T>G	-	IntronicSNV	-	5/11	1
4-9967843-G-A	c.681+14373C>T	-	IntronicSNV	-	5/11	1
4-9968684-C-T	c.681+13532G>A	-	IntronicSNV	-	5/11	2
4-9969117-G-A	c.681+13099C>T	-	IntronicSNV	-	5/11	2
4-9969117-G-T	c.681+13099C>A	-	IntronicSNV	-	5/11	2
4-9969517-T-G	c.681+12699A>C	-	IntronicSNV	-	5/11	1
4-9969762-AT-A	c.681+12453del	-	IntronicDeletion	-	5/11	1
4-9969974-T-C	c.681+12242A>G	-	IntronicSNV	-	5/11	1
4-9970570-A-G	c.681+11646T>C	-	IntronicSNV	-	5/11	1
4-9970691-C-A	c.681+11525G>T	-	IntronicSNV	-	5/11	1
4-9970691-C-G	c.681+11525G>C	-	IntronicSNV	-	5/11	1
4-9970691-C-T	c.681+11525G>A	-	IntronicSNV	-	5/11	1
4-9970962-C-T	c.681+11254G>A	-	IntronicSNV	-	5/11	1
4-9971058-A-G	c.681+11158T>C	-	IntronicSNV	-	5/11	1
4-9971749-C-G	c.681+10467G>C	-	IntronicSNV	-	5/11	1
4-9971749-C-T	c.681+10467G>A	-	IntronicSNV	-	5/11	1
4-9971950-G-A	c.681+10266C>T	-	IntronicSNV	-	5/11	1
4-9972163-C-A	c.681+10053G>T	-	IntronicSNV	-	5/11	1
4-9972363-C-T	c.681+9853G>A	-	IntronicSNV	-	5/11	1
4-9972778-T-G	c.681+9438A>C	-	IntronicSNV	-	5/11	1
4-9972879-T-A	c.681+9337A>T	-	IntronicSNV	-	5/11	1
4-9972879-T-C	c.681+9337A>G	-	IntronicSNV	-	5/11	1
4-9973744-C-T	c.681+8472G>A	-	IntronicSNV	-	5/11	1
4-9973781-T-A	c.681+8435A>T	-	IntronicSNV	-	5/11	1
4-9973781-T-C	c.681+8435A>G	-	IntronicSNV	-	5/11	1
4-9973894-C-T	c.681+8322G>A	-	IntronicSNV	-	5/11	1
4-9974043-T-A	c.681+8173A>T	-	IntronicSNV	-	5/11	1
4-9974043-T-C	c.681+8173A>G	-	IntronicSNV	-	5/11	1
4-9974638-A-G	c.681+7578T>C	-	IntronicSNV	-	5/11	1
4-9974638-A-T	c.681+7578T>A	-	IntronicSNV	-	5/11	1
4-9978094-G-A	c.681+4122C>T	-	IntronicSNV	-	5/11	2
4-9978142-G-A	c.681+4074C>T	-	IntronicSNV	-	5/11	3
4-9978305-C-G	c.681+3911G>C	-	IntronicSNV	-	5/11	4
4-9979262-A-G	c.681+2954T>C	-	IntronicSNV	-	5/11	1
4-9979302-C-T	c.681+2914G>A	-	IntronicSNV	-	5/11	1
4-9979614-G-A	c.681+2602C>T	-	IntronicSNV	-	5/11	1
4-9980462-T-C	c.681+1754A>G	-	IntronicSNV	-	5/11	2
4-9980697-C-A	c.681+1519G>T	-	IntronicSNV	-	5/11	1
4-9980697-C-T	c.681+1519G>A	-	IntronicSNV	-	5/11	1
4-9981625-A-C	c.681+591T>G	-	IntronicSNV	-	5/11	1
4-9981625-A-T	c.681+591T>A	-	IntronicSNV	-	5/11	1
4-9981683-C-T	c.681+533G>A	-	IntronicSNV	-	5/11	1
4-9981889-T-C	c.681+327A>G	-	IntronicSNV	-	5/11	13
4-9981889-T-G	c.681+327A>C	-	IntronicSNV	-	5/11	13
4-9981997-G-A	c.681+219C>T	-	IntronicSNV	-	5/11	4
4-9981997-G-T	c.681+219C>A	-	IntronicSNV	-	5/11	4
4-9982027-GTT-G	c.681+188_681+189del	-	IntronicDeletion	-	5/11	1
4-9982029-A-G	c.681+187T>C	-	IntronicSNV	-	5/11	2
4-9982029-A-T	c.681+187T>A	-	IntronicSNV	-	5/11	2
4-9982044-A-C	c.681+172T>G	-	IntronicSNV	-	5/11	3
4-9982139-T-G	c.681+77A>C	-	IntronicSNV	-	5/11	1
4-9982191-C-G	c.681+25G>C	-	IntronicSNV	-	5/11	10
4-9982191-C-T	c.681+25G>A	-	IntronicSNV	-	5/11	12
4-9982203-G-A	c.681+13C>T	-	IntronicSNV	-	5/11	1
4-9982221-C-G	c.676G>C	p.G226R	Missense	5/12	-	1
4-9982221-C-T	c.676G>A	p.G226R	Missense	5/12	-	1
4-9982222-C-T	c.675G>A	p.L225=	Synonymous	5/12	-	2
4-9982225-C-A	c.672G>T	p.L224=	Synonymous	5/12	-	1
4-9982225-C-G	c.672G>C	p.L224=	Synonymous	5/12	-	1
4-9982225-C-T	c.672G>A	p.L224=	Synonymous	5/12	-	2
4-9982227-G-A	c.670C>T	p.L224=	Synonymous	5/12	-	2
4-9982230-C-T	c.667G>A	p.E223K	Missense	5/12	-	6
4-9982236-G-A	c.661C>T	p.L221=	Synonymous	5/12	-	3
4-9982239-C-A	c.658G>T	p.G220C	Missense	5/12	-	1
4-9982247-T-A	c.650A>T	p.Q217L	Missense	5/12	-	3
4-9982250-C-A	c.647G>T	p.G216V	Missense	5/12	-	1
4-9982250-C-G	c.647G>C	p.G216A	Missense	5/12	-	1
4-9982251-C-G	c.646G>C	p.G216R	Missense	5/12	-	3
4-9982251-C-T	c.646G>A	p.G216R	Missense	5/12	-	7
4-9982258-C-A	c.639G>T	p.V213=	Synonymous	5/12	-	1
4-9982258-CAC-AAA	c.637_639delinsTTT	p.V213F	Missense	5/12	-	1
4-9982258-C-G	c.639G>C	p.V213=	Synonymous	5/12	-	1
4-9982258-C-T	c.639G>A	p.V213=	Synonymous	5/12	-	1
4-9982260-C-A	c.637G>T	p.V213L	Missense	5/12	-	1
4-9982260-C-G	c.637G>C	p.V213L	Missense	5/12	-	1
4-9982260-C-T	c.637G>A	p.V213M	Missense	5/12	-	1
4-9982261-G-A	c.636C>T	p.G212=	Synonymous	5/12	-	1
4-9982261-G-T	c.636C>A	p.G212=	Synonymous	5/12	-	1
4-9982266-T-C	c.631A>G	p.I211V	Missense	5/12	-	1
4-9982268-C-A	c.629G>T	p.C210F	Missense	5/12	-	1
4-9982270-G-C	c.627C>G	p.I209M	Missense	5/12	-	4
4-9982271-A-C	c.626T>G	p.I209S	Missense	5/12	-	1
4-9982272-T-A	c.625A>T	p.I209F	Missense	5/12	-	1
4-9982273-A-C	c.624T>G	p.F208L	Missense	5/12	-	1
4-9982273-A-T	c.624T>A	p.F208L	Missense	5/12	-	1
4-9982275-A-G	c.622T>C	p.F208L	Missense	5/12	-	1
4-9982276-G-A	c.621C>T	p.I207=	Synonymous	5/12	-	1
4-9982276-G-T	c.621C>A	p.I207=	Synonymous	5/12	-	1
4-9982279-G-A	c.618C>T	p.A206=	Synonymous	5/12	-	1
4-9982281-C-A	c.616G>T	p.A206S	Missense	5/12	-	2
4-9982281-C-T	c.616G>A	p.A206T	Missense	5/12	-	1
4-9982290-G-C	c.607C>G	p.Q203E	Missense	5/12	-	2
4-9982290-G-T	c.607C>A	p.Q203K	Missense	5/12	-	1
4-9982292-C-T	c.605G>A	p.G202E	Missense	5/12	-	1
4-9982303-ACG-CCA	c.592_594delinsTGG	p.R198W	Missense	5/12	-	2
4-9982304-C-T	c.593G>A	p.R198H	Missense	5/12	-	5
4-9982305-G-A	c.592C>T	p.R198C	Missense	5/12	-	16
4-9982311-C-T	c.586G>A	p.E196K	Missense	5/12	-	2
4-9982315-G-T	c.582C>A	p.P194=	Synonymous	5/12	-	1
4-9982316-G-A	c.581C>T	p.P194L	Missense	5/12	-	2
4-9982316-G-T	c.581C>A	p.P194H	Missense	5/12	-	1
4-9982317-G-A	c.580C>T	p.P194S	Missense	5/12	-	1
4-9982321-G-A	c.576C>T	p.I192=	Synonymous	5/12	-	1
4-9982321-G-T	c.576C>A	p.I192=	Synonymous	5/12	-	2
4-9982322-A-G	c.575T>C	p.I192T	Missense	5/12	-	1
4-9982324-C-A	c.573G>T	p.E191D	Missense	5/12	-	2
4-9982324-C-G	c.573G>C	p.E191D	Missense	5/12	-	2
4-9982326-C-T	c.571G>A	p.E191K	Missense	5/12	-	2
4-9982330-A-C	c.567T>G	p.L189=	Synonymous	5/12	-	16
4-9982330-A-G	c.567T>C	p.L189=	Synonymous	5/12	-	31
4-9982330-A-T	c.567T>A	p.L189=	Synonymous	5/12	-	31
4-9982333-G-C	c.564C>G	p.Y188*	Nonsense	5/12	-	1
4-9982333-G-T	c.564C>A	p.Y188*	Nonsense	5/12	-	2
4-9982338-T-C	c.559A>G	p.M187V	Missense	5/12	-	2
4-9982341-G-A	c.556C>T	p.P186S	Missense	5/12	-	2
4-9982341-G-C	c.556C>G	p.P186A	Missense	5/12	-	1
4-9982347-C-T	c.550G>A	p.V184M	Missense	5/12	-	4
4-9982350-T-C	c.547A>G	p.S183G	Missense	5/12	-	2
4-9982355-G-T	c.542C>A	p.A181D	Missense	5/12	-	1
4-9982356-C-T	c.541G>A	p.A181T	Missense	5/12	-	3
4-9982357-G-A	c.540C>T	p.V180=	Synonymous	5/12	-	3
4-9982357-G-C	c.540C>G	p.V180=	Synonymous	5/12	-	1
4-9982357-G-T	c.540C>A	p.V180=	Synonymous	5/12	-	1
4-9982359-C-A	c.538G>T	p.V180F	Missense	5/12	-	1
4-9982359-C-G	c.538G>C	p.V180L	Missense	5/12	-	1
4-9982359-C-T	c.538G>A	p.V180I	Missense	5/12	-	7
4-9982360-G-A	c.537C>T	p.G179=	Synonymous	5/12	-	1
4-9982361-C-A	c.536G>T	p.G179V	Missense	5/12	-	1
4-9982381-C-G	c.536-20G>C	-	IntronicSNV	-	4/11	1
4-9983278-C-T	c.536-917G>A	-	IntronicSNV	-	4/11	1
4-9984475-C-T	c.536-2114G>A	-	IntronicSNV	-	4/11	2
4-9984541-G-T	c.536-2180C>A	-	IntronicSNV	-	4/11	1
4-9985006-C-T	c.535+2287G>A	-	IntronicSNV	-	4/11	1
4-9985376-G-T	c.535+1917C>A	-	IntronicSNV	-	4/11	3
4-9985398-T-A	c.535+1895A>T	-	IntronicSNV	-	4/11	1
4-9985445-A-G	c.535+1848T>C	-	IntronicSNV	-	4/11	6
4-9985445-A-T	c.535+1848T>A	-	IntronicSNV	-	4/11	6
4-9985596-G-A	c.535+1697C>T	-	IntronicSNV	-	4/11	5
4-9985710-A-C	c.535+1583T>G	-	IntronicSNV	-	4/11	2
4-9986288-C-A	c.535+1005G>T	-	IntronicSNV	-	4/11	1
4-9986288-C-T	c.535+1005G>A	-	IntronicSNV	-	4/11	1
4-9986670-C-CT	c.535+622dup	-	IntronicInsertion	-	4/11	1
4-9986783-G-A	c.535+510C>T	-	IntronicSNV	-	4/11	1
4-9986783-G-C	c.535+510C>G	-	IntronicSNV	-	4/11	1
4-9986915-T-C	c.535+378A>G	-	IntronicSNV	-	4/11	1
4-9986915-T-G	c.535+378A>C	-	IntronicSNV	-	4/11	1
4-9987226-T-C	c.535+67A>G	-	IntronicSNV	-	4/11	7
4-9987296-C-T	c.532G>A	p.G178R	Missense	4/12	-	1
4-9987304-C-A	c.524G>T	p.G175V	Missense	4/12	-	1
4-9987306-C-T	c.522G>A	p.M174I	Missense	4/12	-	2
4-9987308-T-C	c.520A>G	p.M174V	Missense	4/12	-	2
4-9987309-G-A	c.519C>T	p.I173=	Synonymous	4/12	-	3
4-9987316-C-T	c.512G>A	p.R171H	Missense	4/12	-	2
4-9987317-G-A	c.511C>T	p.R171C	Missense	4/12	-	11
4-9987318-TCC-ACA	c.508_510delinsTGT	p.G170C	Missense	4/12	-	1
4-9987319-C-T	c.509G>A	p.G170E	Missense	4/12	-	2
4-9987320-C-A	c.508G>T	p.G170*	Nonsense	4/12	-	1
4-9987320-C-G	c.508G>C	p.G170R	Missense	4/12	-	2
4-9987320-C-T	c.508G>A	p.G170R	Missense	4/12	-	3
4-9987321-C-T	c.507G>A	p.V169=	Synonymous	4/12	-	1
4-9987323-C-T	c.505G>A	p.V169M	Missense	4/12	-	5
4-9987324-G-A	c.504C>T	p.I168=	Synonymous	4/12	-	18
4-9987324-G-T	c.504C>A	p.I168=	Synonymous	4/12	-	17
4-9987328-A-G	c.500T>C	p.L167P	Missense	4/12	-	1
4-9987330-C-A	c.498G>T	p.M166I	Missense	4/12	-	1
4-9987330-C-G	c.498G>C	p.M166I	Missense	4/12	-	1
4-9987330-C-T	c.498G>A	p.M166I	Missense	4/12	-	1
4-9987335-C-A	c.493G>T	p.E165*	Nonsense	4/12	-	1
4-9987340-G-A	c.488C>T	p.A163V	Missense	4/12	-	2
4-9987342-T-C	c.486A>G	p.G162=	Synonymous	4/12	-	1
4-9987343-C-A	c.485G>T	p.G162V	Missense	4/12	-	3
4-9987343-C-T	c.485G>A	p.G162E	Missense	4/12	-	3
4-9987346-G-A	c.482C>T	p.A161V	Missense	4/12	-	3
4-9987347-C-A	c.481G>T	p.A161S	Missense	4/12	-	1
4-9987348-C-T	c.480G>A	p.Q160=	Synonymous	4/12	-	2
4-9987351-G-A	c.477C>T	p.L159=	Synonymous	4/12	-	2
4-9987351-G-C	c.477C>G	p.L159=	Synonymous	4/12	-	1
4-9987351-G-T	c.477C>A	p.L159=	Synonymous	4/12	-	1
4-9987354-C-A	c.474G>T	p.S158=	Synonymous	4/12	-	1
4-9987354-C-G	c.474G>C	p.S158=	Synonymous	4/12	-	1
4-9987354-C-T	c.474G>A	p.S158=	Synonymous	4/12	-	3
4-9987356-A-G	c.472T>C	p.S158P	Missense	4/12	-	1
4-9987358-CA-GT	c.469_470delinsAC	p.C157T	Missense	4/12	-	1
4-9987363-C-A	c.465G>T	p.M155I	Missense	4/12	-	2
4-9987363-C-G	c.465G>C	p.M155I	Missense	4/12	-	1
4-9987363-C-T	c.465G>A	p.M155I	Missense	4/12	-	1
4-9987365-T-C	c.463A>G	p.M155V	Missense	4/12	-	2
4-9987369-C-T	c.459G>A	p.L153=	Synonymous	4/12	-	1
4-9987371-A-G	c.457T>C	p.L153=	Synonymous	4/12	-	1
4-9987373-G-T	c.455C>A	p.A152E	Missense	4/12	-	1
4-9987375-A-C	c.453T>G	p.A151=	Synonymous	4/12	-	1
4-9987375-A-G	c.453T>C	p.A151=	Synonymous	4/12	-	1
4-9987375-A-T	c.453T>A	p.A151=	Synonymous	4/12	-	1
4-9987377-C-T	c.451G>A	p.A151T	Missense	4/12	-	1
4-9987379-G-A	c.449C>T	p.S150F	Missense	4/12	-	4
4-9987380-A-T	c.448T>A	p.S150T	Missense	4/12	-	3
4-9987382-A-G	c.446T>C	p.I149T	Missense	4/12	-	1
4-9987386-C-A	c.442G>T	p.A148S	Missense	4/12	-	1
4-9987391-CC-GT	c.436_437delinsAC	p.G146T	Missense	4/12	-	1
4-9987391-C-T	c.437G>A	p.G146E	Missense	4/12	-	3
4-9987392-C-T	c.436G>A	p.G146R	Missense	4/12	-	2
4-9987396-A-C	c.432T>G	p.N144K	Missense	4/12	-	1
4-9987396-A-T	c.432T>A	p.N144K	Missense	4/12	-	1
4-9987397-T-C	c.431A>G	p.N144S	Missense	4/12	-	1
4-9987400-G-C	c.428C>G	p.A143G	Missense	4/12	-	3
4-9987400-G-T	c.428C>A	p.A143D	Missense	4/12	-	3
4-9987405-C-A	c.423G>T	p.L141F	Missense	4/12	-	1
4-9987406-A-G	c.422T>C	p.L141S	Missense	4/12	-	1
4-9987410-T-C	c.418A>G	p.T140A	Missense	4/12	-	3
4-9987411-G-A	c.417C>T	p.H139=	Synonymous	4/12	-	2
4-9987416-T-C	c.412A>G	p.K138E	Missense	4/12	-	1
4-9987493-G-A	c.411-76C>T	-	IntronicSNV	-	3/11	1
4-9987493-G-C	c.411-76C>G	-	IntronicSNV	-	3/11	1
4-9987667-T-G	c.411-250A>C	-	IntronicSNV	-	3/11	1
4-9987855-T-C	c.411-438A>G	-	IntronicSNV	-	3/11	1
4-9989233-C-T	c.411-1816G>A	-	IntronicSNV	-	3/11	2
4-9990172-T-C	c.411-2755A>G	-	IntronicSNV	-	3/11	1
4-9990328-G-C	c.411-2911C>G	-	IntronicSNV	-	3/11	2
4-9990349-C-A	c.411-2932G>T	-	IntronicSNV	-	3/11	1
4-9990349-C-T	c.411-2932G>A	-	IntronicSNV	-	3/11	1
4-9991955-C-T	c.411-4538G>A	-	IntronicSNV	-	3/11	2
4-9993772-T-C	c.410+4633A>G	-	IntronicSNV	-	3/11	1
4-9993838-C-G	c.410+4567G>C	-	IntronicSNV	-	3/11	6
4-9993838-C-T	c.410+4567G>A	-	IntronicSNV	-	3/11	6
4-9994163-C-T	c.410+4242G>A	-	IntronicSNV	-	3/11	1
4-9994215-C-T	c.410+4190G>A	-	IntronicSNV	-	3/11	50
4-9994281-G-A	c.410+4124C>T	-	IntronicSNV	-	3/11	1
4-9995182-G-A	c.410+3223C>T	-	IntronicSNV	-	3/11	37
4-9995182-G-C	c.410+3223C>G	-	IntronicSNV	-	3/11	37
4-9995240-C-T	c.410+3165G>A	-	IntronicSNV	-	3/11	2
4-9995256-A-G	c.410+3149T>C	-	IntronicSNV	-	3/11	3
4-9995256-A-T	c.410+3149T>A	-	IntronicSNV	-	3/11	3
4-9995376-G-A	c.410+3029C>T	-	IntronicSNV	-	3/11	5
4-9995495-C-A	c.410+2910G>T	-	IntronicSNV	-	3/11	2
4-9995829-A-C	c.410+2576T>G	-	IntronicSNV	-	3/11	2
4-9995851-A-T	c.410+2554T>A	-	IntronicSNV	-	3/11	1
4-9996392-A-T	c.410+2013T>A	-	IntronicSNV	-	3/11	1
4-9996509-G-A	c.410+1896C>T	-	IntronicSNV	-	3/11	1
4-9996890-T-C	c.410+1515A>G	-	IntronicSNV	-	3/11	7
4-9997060-C-T	c.410+1345G>A	-	IntronicSNV	-	3/11	1
4-9997112-C-A	c.410+1293G>T	-	IntronicSNV	-	3/11	5
4-9997112-C-T	c.410+1293G>A	-	IntronicSNV	-	3/11	5
4-9997303-G-A	c.410+1102C>T	-	IntronicSNV	-	3/11	4
4-9997434-A-G	c.410+971T>C	-	IntronicSNV	-	3/11	1
4-9997801-T-C	c.410+604A>G	-	IntronicSNV	-	3/11	5
4-9998213-A-AGCCTG	c.410+187_410+191dup	-	IntronicInsertion	-	3/11	2
4-9998356-T-C	c.410+49A>G	-	IntronicSNV	-	3/11	1
4-9998376-C-A	c.410+29G>T	-	IntronicSNV	-	3/11	4
4-9998376-C-T	c.410+29G>A	-	IntronicSNV	-	3/11	3
4-9998404-C-T	c.410+1G>A	-	IntronicSNV	-	3/11	1
4-9998408-C-A	c.407G>T	p.G136V	Missense	3/12	-	1
4-9998408-C-T	c.407G>A	p.G136E	Missense	3/12	-	1
4-9998412-G-A	c.403C>T	p.L135F	Missense	3/12	-	2
4-9998412-G-T	c.403C>A	p.L135I	Missense	3/12	-	4
4-9998415-C-T	c.400G>A	p.V134I	Missense	3/12	-	2
4-9998418-T-G	c.397A>C	p.K133Q	Missense	3/12	-	1
4-9998420-C-G	c.395G>C	p.G132A	Missense	3/12	-	2
4-9998430-T-C	c.385A>G	p.K129E	Missense	3/12	-	1
4-9998432-A-G	c.383T>C	p.V128A	Missense	3/12	-	2
4-9998433-C-T	c.382G>A	p.V128M	Missense	3/12	-	1
4-9998437-T-C	c.378A>G	p.L126=	Synonymous	3/12	-	1
4-9998439-A-G	c.376T>C	p.L126=	Synonymous	3/12	-	1
4-9998440-C-A	c.375G>T	p.T125=	Synonymous	3/12	-	3
4-9998440-C-G	c.375G>C	p.T125=	Synonymous	3/12	-	32
4-9998440-C-T	c.375G>A	p.T125=	Synonymous	3/12	-	32
4-9998441-G-A	c.374C>T	p.T125M	Missense	3/12	-	13
4-9998441-G-C	c.374C>G	p.T125R	Missense	3/12	-	4
4-9998448-C-A	c.367G>T	p.V123L	Missense	3/12	-	1
4-9998448-C-G	c.367G>C	p.V123L	Missense	3/12	-	1
4-9998449-A-C	c.366T>G	p.L122=	Synonymous	3/12	-	1
4-9998449-A-G	c.366T>C	p.L122=	Synonymous	3/12	-	1
4-9998449-A-T	c.366T>A	p.L122=	Synonymous	3/12	-	1
4-9998457-C-G	c.358G>C	p.G120R	Missense	3/12	-	1
4-9998457-C-T	c.358G>A	p.G120S	Missense	3/12	-	2
4-9998458-G-A	c.357C>T	p.I119=	Synonymous	3/12	-	2
4-9998460-T-TG	c.354dup	p.I119Hfs*27	Frameshift	3/12	-	1
4-9998464-G-A	c.351C>T	p.F117=	Synonymous	3/12	-	5
4-9998464-G-T	c.351C>A	p.F117L	Missense	3/12	-	1
4-9998467-T-C	c.348A>G	p.I116M	Missense	3/12	-	4
4-9998469-T-G	c.346A>C	p.I116L	Missense	3/12	-	1
4-9998471-G-A	c.344C>T	p.S115F	Missense	3/12	-	1
4-9998474-A-G	c.341T>C	p.V114A	Missense	3/12	-	1
4-9998474-A-T	c.341T>A	p.V114E	Missense	3/12	-	1
4-9998478-T-C	c.337A>G	p.T113A	Missense	3/12	-	1
4-9998479-CAC-GAT	c.334_336delinsATC	p.V112I	Missense	3/12	-	1
4-9998483-G-A	c.332C>T	p.S111F	Missense	3/12	-	2
4-9998484-A-T	c.331T>A	p.S111T	Missense	3/12	-	1
4-9998485-CC-AA	c.329_330delinsTT	p.W110F	Missense	3/12	-	1
4-9998485-C-G	c.330G>C	p.W110C	Missense	3/12	-	1
4-9998486-CA-GC	c.328_329delinsGC	p.W110A	Missense	3/12	-	1
4-9998490-G-T	c.325C>A	p.L109I	Missense	3/12	-	1
4-9998491-C-T	c.324G>A	p.L108=	Synonymous	3/12	-	3
4-9998493-A-G	c.322T>C	p.L108=	Synonymous	3/12	-	34
4-9998497-CAG-AAA	c.316_318delinsTTT	p.L106F	Missense	3/12	-	1
4-9998504-T-C	c.311A>G	p.D104G	Missense	3/12	-	2
4-9998507-G-A	c.308C>T	p.P103L	Missense	3/12	-	1
4-9998507-G-T	c.308C>A	p.P103Q	Missense	3/12	-	3
4-9998508-G-A	c.307C>T	p.P103S	Missense	3/12	-	1
4-9998508-G-C	c.307C>G	p.P103A	Missense	3/12	-	3
4-9998508-G-T	c.307C>A	p.P103T	Missense	3/12	-	1
4-9998509-G-A	c.306C>T	p.D102=	Synonymous	3/12	-	1
4-9998516-G-T	c.299C>A	p.P100Q	Missense	3/12	-	1
4-9998517-G-A	c.298C>T	p.P100S	Missense	3/12	-	1
4-9998519-C-T	c.296G>A	p.R99H	Missense	3/12	-	1
4-9998520-G-A	c.295C>T	p.R99C	Missense	3/12	-	2
4-9998522-C-A	c.293G>T	p.G98V	Missense	3/12	-	1
4-9998523-C-A	c.292G>T	p.G98*	Nonsense	3/12	-	1
4-9998523-C-T	c.292G>A	p.G98R	Missense	3/12	-	1
4-9998527-C-T	c.288G>A	p.R96=	Synonymous	3/12	-	3
4-9998528-C-G	c.287G>C	p.R96T	Missense	3/12	-	1
4-9998528-CT-TG	c.286_287delinsCA	p.R96Q	Missense	3/12	-	2
4-9998529-T-TA	c.285_286insT	p.R96*	Nonsense	3/12	-	1
4-9998528-CT-C	c.286del	p.R96Gfs*6	Frameshift	3/12	-	1
4-9998532-T-C	c.283A>G	p.R95G	Missense	3/12	-	1
4-9998533-TTC-AAA	c.280_282delinsTTT	p.E94F	Missense	3/12	-	1
4-9998535-C-T	c.280G>A	p.E94K	Missense	3/12	-	2
4-9998536-C-T	c.279G>A	p.W93*	Nonsense	3/12	-	1
4-9998544-C-T	c.271G>A	p.E91K	Missense	3/12	-	1
4-9998545-ATT-TTG	c.268_270delinsCAA	p.N90Q	Missense	3/12	-	1
4-9998546-T-C	c.269A>G	p.N90S	Missense	3/12	-	3
4-9998547-T-C	c.268A>G	p.N90D	Missense	3/12	-	1
4-9998547-T-TG	c.267dup	p.N90Qfs*2	Frameshift	3/12	-	1
4-9998548-G-A	c.267C>T	p.Y89=	Synonymous	3/12	-	1
4-9998548-G-C	c.267C>G	p.Y89*	Nonsense	3/12	-	1
4-9998548-G-T	c.267C>A	p.Y89*	Nonsense	3/12	-	1
4-9998551-A-G	c.264T>C	p.F88=	Synonymous	3/12	-	1
4-9998555-G-T	c.260C>A	p.A87D	Missense	3/12	-	1
4-9998556-C-T	c.259G>A	p.A87T	Missense	3/12	-	1
4-9998557-C-A	c.258G>T	p.K86N	Missense	3/12	-	1
4-9998557-C-G	c.258G>C	p.K86N	Missense	3/12	-	1
4-9998560-G-A	c.255C>T	p.I85=	Synonymous	3/12	-	1
4-9998560-G-C	c.255C>G	p.I85M	Missense	3/12	-	1
4-9998563-G-A	c.252C>T	p.Y84=	Synonymous	3/12	-	2
4-9998605-T-A	c.250-40A>T	-	IntronicSNV	-	2/11	11
4-9998605-T-C	c.250-40A>G	-	IntronicSNV	-	2/11	11
4-9999335-G-A	c.250-770C>T	-	IntronicSNV	-	2/11	2
4-9999335-G-T	c.250-770C>A	-	IntronicSNV	-	2/11	2
4-10000236-G-T	c.250-1671C>A	-	IntronicSNV	-	2/11	2
4-10000501-A-C	c.250-1936T>G	-	IntronicSNV	-	2/11	4
4-10000501-A-G	c.250-1936T>C	-	IntronicSNV	-	2/11	4
4-10000501-A-T	c.250-1936T>A	-	IntronicSNV	-	2/11	4
4-10000947-A-G	c.250-2382T>C	-	IntronicSNV	-	2/11	3
4-10001833-G-T	c.250-3268C>A	-	IntronicSNV	-	2/11	1
4-10001861-G-A	c.250-3296C>T	-	IntronicSNV	-	2/11	46
4-10002425-T-C	c.250-3860A>G	-	IntronicSNV	-	2/11	1
4-10002665-T-A	c.250-4100A>T	-	IntronicSNV	-	2/11	3
4-10002665-T-C	c.250-4100A>G	-	IntronicSNV	-	2/11	3
4-10002719-T-C	c.250-4154A>G	-	IntronicSNV	-	2/11	1
4-10003395-C-G	c.250-4830G>C	-	IntronicSNV	-	2/11	2
4-10004000-A-G	c.250-5435T>C	-	IntronicSNV	-	2/11	2
4-10004743-C-G	c.250-6178G>C	-	IntronicSNV	-	2/11	1
4-10004805-C-T	c.250-6240G>A	-	IntronicSNV	-	2/11	1
4-10004832-A-G	c.250-6267T>C	-	IntronicSNV	-	2/11	1
4-10005435-G-A	c.250-6870C>T	-	IntronicSNV	-	2/11	1
4-10005555-A-T	c.250-6990T>A	-	IntronicSNV	-	2/11	1
4-10006537-C-A	c.250-7972G>T	-	IntronicSNV	-	2/11	2
4-10006663-G-C	c.250-8098C>G	-	IntronicSNV	-	2/11	1
4-10006663-G-T	c.250-8098C>A	-	IntronicSNV	-	2/11	1
4-10007086-C-T	c.250-8521G>A	-	IntronicSNV	-	2/11	2
4-10007275-C-G	c.250-8710G>C	-	IntronicSNV	-	2/11	2
4-10007275-C-T	c.250-8710G>A	-	IntronicSNV	-	2/11	2
4-10008305-G-A	c.250-9740C>T	-	IntronicSNV	-	2/11	2
4-10008305-G-C	c.250-9740C>G	-	IntronicSNV	-	2/11	2
4-10009917-G-A	c.249+10682C>T	-	IntronicSNV	-	2/11	2
4-10009917-G-C	c.249+10682C>G	-	IntronicSNV	-	2/11	2
4-10010520-G-A	c.249+10079C>T	-	IntronicSNV	-	2/11	1
4-10010520-G-T	c.249+10079C>A	-	IntronicSNV	-	2/11	1
4-10012372-C-T	c.249+8227G>A	-	IntronicSNV	-	2/11	1
4-10012608-T-C	c.249+7991A>G	-	IntronicSNV	-	2/11	1
4-10012608-T-G	c.249+7991A>C	-	IntronicSNV	-	2/11	1
4-10012846-C-A	c.249+7753G>T	-	IntronicSNV	-	2/11	1
4-10012846-C-T	c.249+7753G>A	-	IntronicSNV	-	2/11	1
4-10013173-T-G	c.249+7426A>C	-	IntronicSNV	-	2/11	3
4-10013463-T-A	c.249+7136A>T	-	IntronicSNV	-	2/11	2
4-10013463-T-G	c.249+7136A>C	-	IntronicSNV	-	2/11	2
4-10016322-T-A	c.249+4277A>T	-	IntronicSNV	-	2/11	1
4-10016322-T-C	c.249+4277A>G	-	IntronicSNV	-	2/11	1
4-10017387-G-A	c.249+3212C>T	-	IntronicSNV	-	2/11	1
4-10017387-G-C	c.249+3212C>G	-	IntronicSNV	-	2/11	1
4-10018153-C-A	c.249+2446G>T	-	IntronicSNV	-	2/11	3
4-10018153-C-G	c.249+2446G>C	-	IntronicSNV	-	2/11	3
4-10018153-C-T	c.249+2446G>A	-	IntronicSNV	-	2/11	3
4-10019563-C-G	c.249+1036G>C	-	IntronicSNV	-	2/11	2
4-10019732-C-T	c.249+867G>A	-	IntronicSNV	-	2/11	2
4-10019974-G-T	c.249+625C>A	-	IntronicSNV	-	2/11	1
4-10020216-C-T	c.249+383G>A	-	IntronicSNV	-	2/11	1
4-10020307-G-A	c.249+292C>T	-	IntronicSNV	-	2/11	2
4-10020480-C-T	c.249+119G>A	-	IntronicSNV	-	2/11	8
4-10020564-G-A	c.249+35C>T	-	IntronicSNV	-	2/11	11
4-10020602-G-A	c.246C>T	p.T82=	Synonymous	2/12	-	1
4-10020606-G-A	c.242C>T	p.P81L	Missense	2/12	-	1
4-10020609-G-A	c.239C>T	p.A80V	Missense	2/12	-	1
4-10020610-C-A	c.238G>T	p.A80S	Missense	2/12	-	1
4-10020615-A-G	c.233T>C	p.V78A	Missense	2/12	-	1
4-10020618-A-C	c.230T>G	p.V77G	Missense	2/12	-	1
4-10020621-G-C	c.227C>G	p.S76W	Missense	2/12	-	2
4-10020624-A-C	c.224T>G	p.L75R	Missense	2/12	-	14
4-10020626-G-T	c.222C>A	p.N74K	Missense	2/12	-	1
4-10020628-T-G	c.220A>C	p.N74H	Missense	2/12	-	1
4-10020633-C-T	c.215G>A	p.G72D	Missense	2/12	-	1
4-10020634-C-T	c.214G>A	p.G72S	Missense	2/12	-	1
4-10020642-A-G	c.206T>C	p.F69S	Missense	2/12	-	1
4-10020645-GA-TT	c.202_203delinsAA	p.S68N	Missense	2/12	-	1
4-10020645-G-C	c.203C>G	p.S68C	Missense	2/12	-	1
4-10020650-G-A	c.198C>T	p.G66=	Synonymous	2/12	-	1
4-10020650-G-C	c.198C>G	p.G66=	Synonymous	2/12	-	1
4-10020650-G-T	c.198C>A	p.G66=	Synonymous	2/12	-	1
4-10020653-G-A	c.195C>T	p.F65=	Synonymous	2/12	-	2
4-10020663-G-A	c.185C>T	p.A62V	Missense	2/12	-	1
4-10020666-A-C	c.182T>G	p.L61R	Missense	2/12	-	1
4-10020667-G-A	c.181C>T	p.L61F	Missense	2/12	-	2
4-10020669-G-C	c.179C>G	p.S60C	Missense	2/12	-	1
4-10020673-C-A	c.175G>T	p.A59S	Missense	2/12	-	1
4-10020673-C-T	c.175G>A	p.A59T	Missense	2/12	-	2
4-10020676-C-T	c.172G>A	p.V58M	Missense	2/12	-	2
4-10020677-G-A	c.171C>T	p.L57=	Synonymous	2/12	-	2
4-10020687-C-G	c.161G>C	p.C54S	Missense	2/12	-	1
4-10020689-G-A	c.159C>T	p.S53=	Synonymous	2/12	-	1
4-10020689-G-C	c.159C>G	p.S53=	Synonymous	2/12	-	1
4-10020689-G-T	c.159C>A	p.S53=	Synonymous	2/12	-	1
4-10020690-G-T	c.158C>A	p.S53Y	Missense	2/12	-	2
4-10020692-C-T	c.156G>A	p.W52*	Nonsense	2/12	-	1
4-10020693-C-G	c.155G>C	p.W52S	Missense	2/12	-	1
4-10020693-C-T	c.155G>A	p.W52*	Nonsense	2/12	-	2
4-10020694-A-G	c.154T>C	p.W52R	Missense	2/12	-	1
4-10020694-A-T	c.154T>A	p.W52R	Missense	2/12	-	1
4-10020696-T-A	c.152A>T	p.D51V	Missense	2/12	-	1
4-10020757-A-G	c.151-60T>C	-	IntronicSNV	-	1/11	8
4-10021151-G-A	c.151-454C>T	-	IntronicSNV	-	1/11	2
4-10021290-G-C	c.151-593C>G	-	IntronicSNV	-	1/11	2
4-10021595-C-G	c.151-898G>C	-	IntronicSNV	-	1/11	1
4-10021595-C-T	c.151-898G>A	-	IntronicSNV	-	1/11	1
4-10022084-G-A	c.150+820C>T	-	IntronicSNV	-	1/11	1
4-10022839-G-A	c.150+65C>T	-	IntronicSNV	-	1/11	6
4-10022880-T-C	c.150+24A>G	-	IntronicSNV	-	1/11	7
4-10022904-C-A	c.150G>T	p.K50N	Missense	1/12	-	1
4-10022904-C-G	c.150G>C	p.K50N	Missense	1/12	-	1
4-10022907-T-A	c.147A>T	p.R49S	Missense	1/12	-	3
4-10022907-T-G	c.147A>C	p.R49S	Missense	1/12	-	2
4-10022908-C-T	c.146G>A	p.R49K	Missense	1/12	-	1
4-10022909-T-A	c.145A>T	p.R49*	Nonsense	1/12	-	1
4-10022909-T-C	c.145A>G	p.R49G	Missense	1/12	-	2
4-10022911-C-A	c.143G>T	p.R48I	Missense	1/12	-	2
4-10022914-C-T	c.140G>A	p.R47K	Missense	1/12	-	1
4-10022918-C-T	c.136G>A	p.G46R	Missense	1/12	-	2
4-10022921-C-A	c.133G>T	p.G45C	Missense	1/12	-	1
4-10022921-C-T	c.133G>A	p.G45S	Missense	1/12	-	2
4-10022927-C-T	c.127G>A	p.V43M	Missense	1/12	-	1
4-10022929-C-T	c.125G>A	p.G42E	Missense	1/12	-	2
4-10022930-C-G	c.124G>C	p.G42R	Missense	1/12	-	1
4-10022930-C-T	c.124G>A	p.G42R	Missense	1/12	-	1
4-10022932-C-T	c.122G>A	p.S41N	Missense	1/12	-	1
4-10022932-CT-AG	c.121_122inv	p.S41L	Missense	1/12	-	1
4-10022942-G-A	c.112C>T	p.H38Y	Missense	1/12	-	2
4-10022944-T-C	c.110A>G	p.D37G	Missense	1/12	-	2
4-10022946-A-C	c.108T>G	p.C36W	Missense	1/12	-	1
4-10022947-C-T	c.107G>A	p.C36Y	Missense	1/12	-	1
4-10022953-A-C	c.101T>G	p.L34R	Missense	1/12	-	2
4-10022954-G-T	c.100C>A	p.L34M	Missense	1/12	-	1
4-10022955-C-T	c.99G>A	p.L33=	Synonymous	1/12	-	1
4-10022957-G-A	c.97C>T	p.L33=	Synonymous	1/12	-	1
4-10022959-GC-TG	c.94_95delinsCA	p.A32Q	Missense	1/12	-	1
4-10022970-C-A	c.84G>T	p.G28=	Synonymous	1/12	-	1
4-10022970-C-G	c.84G>C	p.G28=	Synonymous	1/12	-	1
4-10022970-C-T	c.84G>A	p.G28=	Synonymous	1/12	-	1
4-10022969-GC-G	c.84del	p.P29Qfs*11	Frameshift	1/12	-	1
4-10022977-G-T	c.77C>A	p.P26H	Missense	1/12	-	2
4-10022979-C-A	c.75G>T	p.G25=	Synonymous	1/12	-	1
4-10022979-C-G	c.75G>C	p.G25=	Synonymous	1/12	-	1
4-10022979-C-T	c.75G>A	p.G25=	Synonymous	1/12	-	1
4-10022981-C-G	c.73G>C	p.G25R	Missense	1/12	-	6
4-10022981-C-T	c.73G>A	p.G25R	Missense	1/12	-	51
4-10022982-G-A	c.72C>T	p.A24=	Synonymous	1/12	-	1
4-10022982-G-T	c.72C>A	p.A24=	Synonymous	1/12	-	1
4-10022983-G-A	c.71C>T	p.A24V	Missense	1/12	-	1
4-10022984-C-T	c.70G>A	p.A24T	Missense	1/12	-	2
4-10022985-G-A	c.69C>T	p.H23=	Synonymous	1/12	-	2
4-10022988-G-A	c.66C>T	p.S22=	Synonymous	1/12	-	2
4-10022990-T-A	c.64A>T	p.S22C	Missense	1/12	-	1
4-10022990-T-C	c.64A>G	p.S22G	Missense	1/12	-	2
4-10022991-GG-CA	c.62_63delinsTG	p.T21M	Missense	1/12	-	1
4-10022992-G-A	c.62C>T	p.T21I	Missense	1/12	-	1
4-10022994-G-C	c.60C>G	p.D20E	Missense	1/12	-	1
4-10022994-G-T	c.60C>A	p.D20E	Missense	1/12	-	1
4-10022998-T-A	c.56A>T	p.D19V	Missense	1/12	-	1
4-10022999-C-G	c.55G>C	p.D19H	Missense	1/12	-	1
4-10023000-TG-GT	c.53_54delinsAC	p.T18N	Missense	1/12	-	1
4-10023006-G-A	c.48C>T	p.P16=	Synonymous	1/12	-	1
4-10023006-G-C	c.48C>G	p.P16=	Synonymous	1/12	-	1
4-10023006-G-T	c.48C>A	p.P16=	Synonymous	1/12	-	2
4-10023007-G-A	c.47C>T	p.P16L	Missense	1/12	-	1
4-10023008-G-T	c.46C>A	p.P16T	Missense	1/12	-	1
4-10023015-G-A	c.39C>T	p.G13=	Synonymous	1/12	-	1
4-10023015-G-T	c.39C>A	p.G13=	Synonymous	1/12	-	1
4-10023016-C-T	c.38G>A	p.G13D	Missense	1/12	-	1
4-10023020-G-A	c.34C>T	p.L12=	Synonymous	1/12	-	2
4-10023023-C-A	c.31G>T	p.E11*	Nonsense	1/12	-	1
4-10023023-C-T	c.31G>A	p.E11K	Missense	1/12	-	2
4-10023028-G-T	c.26C>A	p.S9Y	Missense	1/12	-	3
4-10023046-CT-AG	c.7_8inv	p.R3L	Missense	1/12	-	1
4-10023061-A-C	c.-8T>G	-	5-UTRSNV	1/12	-	1