HEXA

HEXA hexosaminidase subunit alpha

Annotation transcript: NM_000520.6

1073 unique variant annotations were identified in 604 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
15-72634886-C-T	c.*1532G>A	-	IntergenicSNV	14/14	-	1
15-72635788-T-C	c.*630A>G	-	3-UTRSNV	14/14	-	3
15-72635829-A-C	c.*589T>G	-	3-UTRSNV	14/14	-	9
15-72635843-C-T	c.*575G>A	-	3-UTRSNV	14/14	-	1
15-72635869-G-C	c.*549C>G	-	3-UTRSNV	14/14	-	1
15-72635903-C-T	c.*515G>A	-	3-UTRSNV	14/14	-	8
15-72635982-G-A	c.*436C>T	-	3-UTRSNV	14/14	-	1
15-72636422-G-T	c.1586C>A	p.T529N	Missense	14/14	-	1
15-72636435-C-T	c.1573G>A	p.E525K	Missense	14/14	-	1
15-72636437-T-C	c.1571A>G	p.Q524R	Missense	14/14	-	1
15-72636443-CA-GT	c.1564_1565delinsAC	p.C522T	Missense	14/14	-	1
15-72636443-C-T	c.1565G>A	p.C522Y	Missense	14/14	-	2
15-72636445-G-C	c.1563C>G	p.F521L	Missense	14/14	-	1
15-72636445-G-T	c.1563C>A	p.F521L	Missense	14/14	-	1
15-72636447-A-G	c.1561T>C	p.F521L	Missense	14/14	-	1
15-72636449-C-G	c.1559G>C	p.G520A	Missense	14/14	-	1
15-72636452-A-G	c.1556T>C	p.V519A	Missense	14/14	-	2
15-72636455-T-C	c.1553A>G	p.N518S	Missense	14/14	-	1
15-72636458-A-G	c.1550T>C	p.L517P	Missense	14/14	-	1
15-72636459-G-A	c.1549C>T	p.L517F	Missense	14/14	-	1
15-72636462-G-A	c.1546C>T	p.P516S	Missense	14/14	-	3
15-72636462-G-T	c.1546C>A	p.P516T	Missense	14/14	-	1
15-72636464-T-C	c.1544A>G	p.Q515R	Missense	14/14	-	2
15-72636465-G-A	c.1543C>T	p.Q515*	Nonsense	14/14	-	1
15-72636467-G-T	c.1541C>A	p.A514D	Missense	14/14	-	1
15-72636476-C-A	c.1532G>T	p.G511V	Missense	14/14	-	1
15-72636476-C-G	c.1532G>C	p.G511A	Missense	14/14	-	1
15-72636476-C-T	c.1532G>A	p.G511D	Missense	14/14	-	1
15-72636477-C-G	c.1531G>C	p.G511R	Missense	14/14	-	1
15-72636477-C-T	c.1531G>A	p.G511S	Missense	14/14	-	2
15-72636476-CCT-C	c.1530_1531del	p.G511Cfs*12	Frameshift	14/14	-	1
15-72636478-TC-AT	c.1529_1530delinsAT	p.R510H	Missense	14/14	-	4
15-72636478-TCG-ACA	c.1528_1530delinsTGT	p.R510C	Missense	14/14	-	1
15-72636479-C-T	c.1529G>A	p.R510Q	Missense	14/14	-	2
15-72636480-G-A	c.1528C>T	p.R510*	Nonsense	14/14	-	10
15-72636480-G-C	c.1528C>G	p.R510G	Missense	14/14	-	1
15-72637150-C-A	c.1526+637G>T	-	IntronicSNV	-	13/13	2
15-72637150-C-T	c.1526+637G>A	-	IntronicSNV	-	13/13	2
15-72637211-A-C	c.1526+576T>G	-	IntronicSNV	-	13/13	1
15-72637215-C-G	c.1526+572G>C	-	IntronicSNV	-	13/13	1
15-72637233-G-A	c.1526+554C>T	-	IntronicSNV	-	13/13	1
15-72637272-T-G	c.1526+515A>C	-	IntronicSNV	-	13/13	1
15-72637329-G-A	c.1526+458C>T	-	IntronicSNV	-	13/13	1
15-72637342-G-A	c.1526+445C>T	-	IntronicSNV	-	13/13	1
15-72637342-G-C	c.1526+445C>G	-	IntronicSNV	-	13/13	1
15-72637550-C-A	c.1526+237G>T	-	IntronicSNV	-	13/13	1
15-72637599-C-T	c.1526+188G>A	-	IntronicSNV	-	13/13	2
15-72637623-T-C	c.1526+164A>G	-	IntronicSNV	-	13/13	1
15-72637625-C-T	c.1526+162G>A	-	IntronicSNV	-	13/13	1
15-72637657-G-A	c.1526+130C>T	-	IntronicSNV	-	13/13	1
15-72637679-C-T	c.1526+108G>A	-	IntronicSNV	-	13/13	1
15-72637708-T-C	c.1526+79A>G	-	IntronicSNV	-	13/13	1
15-72637723-T-C	c.1526+64A>G	-	IntronicSNV	-	13/13	1
15-72637765-G-A	c.1526+22C>T	-	IntronicSNV	-	13/13	1
15-72637785-A-G	c.1526+2T>C	-	IntronicSNV	-	13/13	1
15-72637786-C-A	c.1526+1G>T	-	IntronicSNV	-	13/13	1
15-72637785-AC-A	c.1526+1del	-	Frameshift	13/14	-	1
15-72637790-A-G	c.1523T>C	p.L508P	Missense	13/14	-	1
15-72637792-C-A	c.1521G>T	p.L507F	Missense	13/14	-	1
15-72637792-C-G	c.1521G>C	p.L507F	Missense	13/14	-	1
15-72637795-T-A	c.1518A>T	p.E506D	Missense	13/14	-	8
15-72637795-T-C	c.1518A>G	p.E506=	Synonymous	13/14	-	33
15-72637795-T-G	c.1518A>C	p.E506D	Missense	13/14	-	8
15-72637796-T-G	c.1517A>C	p.E506A	Missense	13/14	-	1
15-72637799-CA-GC	c.1513_1514delinsGC	p.C505A	Missense	13/14	-	1
15-72637802-C-A	c.1511G>T	p.R504L	Missense	13/14	-	3
15-72637802-C-T	c.1511G>A	p.R504H	Missense	13/14	-	16
15-72637803-G-A	c.1510C>T	p.R504C	Missense	13/14	-	19
15-72637802-CG-C	c.1510del	p.R504Afs*5	Frameshift	13/14	-	3
15-72637807-G-C	c.1506C>G	p.H502Q	Missense	13/14	-	1
15-72637811-G-A	c.1502C>T	p.S501L	Missense	13/14	-	2
15-72637811-G-C	c.1502C>G	p.S501*	Nonsense	13/14	-	2
15-72637811-G-T	c.1502C>A	p.S501*	Nonsense	13/14	-	1
15-72637813-C-T	c.1500G>A	p.L500=	Synonymous	13/14	-	1
15-72637815-A-G	c.1498T>C	p.L500=	Synonymous	13/14	-	1
15-72637813-CA-C	c.1499del	p.L500Cfs*9	Frameshift	13/14	-	2
15-72637817-C-T	c.1496G>A	p.R499H	Missense	13/14	-	21
15-72637818-G-A	c.1495C>T	p.R499C	Missense	13/14	-	16
15-72637819-T-G	c.1494A>C	p.E498D	Missense	13/14	-	2
15-72637823-T-A	c.1490A>T	p.Y497F	Missense	13/14	-	1
15-72637823-T-C	c.1490A>G	p.Y497C	Missense	13/14	-	2
15-72637824-AG-A	c.1488del	p.Y497Mfs*12	Frameshift	13/14	-	1
15-72637826-G-A	c.1487C>T	p.A496V	Missense	13/14	-	6
15-72637826-G-C	c.1487C>G	p.A496G	Missense	13/14	-	3
15-72637837-G-C	c.1476C>G	p.D492E	Missense	13/14	-	1
15-72637838-T-C	c.1475A>G	p.D492G	Missense	13/14	-	2
15-72637839-C-G	c.1474G>C	p.D492H	Missense	13/14	-	1
15-72637844-G-A	c.1469C>T	p.T490I	Missense	13/14	-	1
15-72637845-T-A	c.1468A>T	p.T490S	Missense	13/14	-	1
15-72637846-C-A	c.1467G>T	p.L489F	Missense	13/14	-	1
15-72637846-C-G	c.1467G>C	p.L489F	Missense	13/14	-	1
15-72637847-AA-TG	c.1465_1466delinsCA	p.L489Q	Missense	13/14	-	1
15-72637848-A-T	c.1465T>A	p.L489M	Missense	13/14	-	1
15-72637851-T-A	c.1462A>T	p.K488*	Nonsense	13/14	-	1
15-72637855-G-T	c.1458C>A	p.S486R	Missense	13/14	-	1
15-72637858-C-A	c.1455G>T	p.W485C	Missense	13/14	-	2
15-72637858-C-G	c.1455G>C	p.W485C	Missense	13/14	-	2
15-72637858-C-T	c.1455G>A	p.W485*	Nonsense	13/14	-	1
15-72637859-C-A	c.1454G>T	p.W485L	Missense	13/14	-	1
15-72637859-C-T	c.1454G>A	p.W485*	Nonsense	13/14	-	4
15-72637860-A-G	c.1453T>C	p.W485R	Missense	13/14	-	7
15-72637860-A-T	c.1453T>A	p.W485R	Missense	13/14	-	5
15-72637862-A-G	c.1451T>C	p.L484P	Missense	13/14	-	3
15-72637862-A-T	c.1451T>A	p.L484Q	Missense	13/14	-	2
15-72637864-C-A	c.1449G>T	p.R483S	Missense	13/14	-	1
15-72637864-C-G	c.1449G>C	p.R483S	Missense	13/14	-	1
15-72637869-C-A	c.1444G>T	p.E482*	Nonsense	13/14	-	1
15-72637869-C-T	c.1444G>A	p.E482K	Missense	13/14	-	11
15-72637870-G-A	c.1443C>T	p.A481=	Synonymous	13/14	-	4
15-72637870-G-C	c.1443C>G	p.A481=	Synonymous	13/14	-	1
15-72637870-G-T	c.1443C>A	p.A481=	Synonymous	13/14	-	1
15-72637872-C-T	c.1441G>A	p.A481T	Missense	13/14	-	1
15-72637873-AAC-CAT	c.1438_1440delinsATG	p.V480M	Missense	13/14	-	1
15-72637875-C-T	c.1438G>A	p.V480I	Missense	13/14	-	1
15-72637877-G-C	c.1436C>G	p.A479G	Missense	13/14	-	1
15-72637878-C-T	c.1435G>A	p.A479T	Missense	13/14	-	7
15-72637880-C-G	c.1433G>C	p.G478A	Missense	13/14	-	1
15-72637881-C-A	c.1432G>T	p.G478W	Missense	13/14	-	1
15-72637881-C-G	c.1432G>C	p.G478R	Missense	13/14	-	2
15-72637881-C-T	c.1432G>A	p.G478R	Missense	13/14	-	6
15-72637885-T-C	c.1428A>G	p.R476=	Synonymous	13/14	-	1
15-72637887-T-G	c.1426A>C	p.R476=	Synonymous	13/14	-	1
15-72637886-C-G	c.1427G>C	p.R476T	Missense	13/14	-	2
15-72637886-C-T	c.1427G>A	p.R476K	Missense	13/14	-	1
15-72637887-T-A	c.1426A>T	p.R476*	Nonsense	13/14	-	1
15-72637887-T-C	c.1426A>G	p.R476G	Missense	13/14	-	1
15-72637889-G-C	c.1424C>G	p.P475R	Missense	13/14	-	2
15-72637890-G-A	c.1423C>T	p.P475S	Missense	13/14	-	2
15-72637891-C-A	c.1422G>T	p.W474C	Missense	13/14	-	5
15-72637891-C-G	c.1422G>C	p.W474C	Missense	13/14	-	15
15-72637916-G-A	c.1422-25C>T	-	IntronicSNV	-	12/13	1
15-72637960-C-A	c.1422-69G>T	-	IntronicSNV	-	12/13	7
15-72637960-C-T	c.1422-69G>A	-	IntronicSNV	-	12/13	7
15-72638128-T-C	c.1422-237A>G	-	IntronicSNV	-	12/13	4
15-72638387-G-C	c.1421+189C>G	-	IntronicSNV	-	12/13	1
15-72638387-G-T	c.1421+189C>A	-	IntronicSNV	-	12/13	1
15-72638391-T-C	c.1421+185A>G	-	IntronicSNV	-	12/13	1
15-72638394-A-C	c.1421+182T>G	-	IntronicSNV	-	12/13	1
15-72638450-C-T	c.1421+126G>A	-	IntronicSNV	-	12/13	1
15-72638451-G-A	c.1421+125C>T	-	IntronicSNV	-	12/13	1
15-72638465-C-T	c.1421+111G>A	-	IntronicSNV	-	12/13	1
15-72638540-G-T	c.1421+36C>A	-	IntronicSNV	-	12/13	1
15-72638561-C-A	c.1421+15G>T	-	IntronicSNV	-	12/13	2
15-72638561-C-G	c.1421+15G>C	-	IntronicSNV	-	12/13	2
15-72638561-C-T	c.1421+15G>A	-	IntronicSNV	-	12/13	2
15-72638556-TC-T	c.1421+19del	-	IntronicDeletion	-	12/13	1
15-72638564-G-A	c.1421+12C>T	-	IntronicSNV	-	12/13	1
15-72638571-C-G	c.1421+5G>C	-	IntronicSNV	-	12/13	1
15-72638572-T-C	c.1421+4A>G	-	IntronicSNV	-	12/13	1
15-72638574-A-G	c.1421+2T>C	-	IntronicSNV	-	12/13	2
15-72638574-A-T	c.1421+2T>A	-	IntronicSNV	-	12/13	2
15-72638575-C-A	c.1421+1G>T	-	IntronicSNV	-	12/13	5
15-72638575-C-G	c.1421+1G>C	-	IntronicSNV	-	12/13	24
15-72637891-C-T	c.1422G>A	p.W474*	Nonsense	13/14	-	1
15-72638576-C-A	c.1421G>T	p.W474L	Missense	12/14	-	2
15-72638576-C-T	c.1421G>A	p.W474*	Nonsense	12/14	-	6
15-72638576-CAG-C	c.1419_1420del	p.W474Afs*18	SpliceDonorDeletion	12/14	-	1
15-72638579-A-G	c.1418T>C	p.L473P	Missense	12/14	-	2
15-72638581-C-G	c.1416G>C	p.R472S	Missense	12/14	-	4
15-72638586-G-A	c.1411C>T	p.P471S	Missense	12/14	-	1
15-72638592-G-A	c.1405C>T	p.L469=	Synonymous	12/14	-	1
15-72638592-G-C	c.1405C>G	p.L469V	Missense	12/14	-	1
15-72638597-G-A	c.1400C>T	p.T467I	Missense	12/14	-	2
15-72638597-G-C	c.1400C>G	p.T467R	Missense	12/14	-	1
15-72638598-T-C	c.1399A>G	p.T467A	Missense	12/14	-	1
15-72638599-G-C	c.1398C>G	p.N466K	Missense	12/14	-	1
15-72638600-T-C	c.1397A>G	p.N466S	Missense	12/14	-	1
15-72638604-C-T	c.1393G>A	p.D465N	Missense	12/14	-	2
15-72638611-TTC-ATA	c.1384_1386delinsTAT	p.E462Y	Missense	12/14	-	1
15-72638612-T-A	c.1385A>T	p.E462V	Missense	12/14	-	16
15-72638614-TCC-ACA	c.1381_1383delinsTGT	p.G461C	Missense	12/14	-	1
15-72638615-C-A	c.1382G>T	p.G461V	Missense	12/14	-	6
15-72638615-C-G	c.1382G>C	p.G461A	Missense	12/14	-	1
15-72638615-C-T	c.1382G>A	p.G461E	Missense	12/14	-	2
15-72638616-C-A	c.1381G>T	p.G461*	Nonsense	12/14	-	1
15-72638621-A-G	c.1376T>C	p.M459T	Missense	12/14	-	1
15-72638622-T-C	c.1375A>G	p.M459V	Missense	12/14	-	1
15-72638624-CA-GT	c.1372_1373delinsAC	p.C458T	Missense	12/14	-	1
15-72638624-C-T	c.1373G>A	p.C458Y	Missense	12/14	-	4
15-72638630-T-G	c.1367A>C	p.E456A	Missense	12/14	-	1
15-72638632-TC-GT	c.1364_1365delinsAC	p.G455D	Missense	12/14	-	1
15-72638633-C-G	c.1364G>C	p.G455A	Missense	12/14	-	1
15-72638634-C-G	c.1363G>C	p.G455R	Missense	12/14	-	4
15-72638634-C-T	c.1363G>A	p.G455R	Missense	12/14	-	4
15-72638635-ACC-TCA	c.1360_1362delinsTGA	p.G454*	Nonsense	12/14	-	1
15-72638636-C-T	c.1361G>A	p.G454D	Missense	12/14	-	1
15-72638637-C-G	c.1360G>C	p.G454R	Missense	12/14	-	2
15-72638637-C-T	c.1360G>A	p.G454S	Missense	12/14	-	6
15-72638638-A-G	c.1359T>C	p.I453=	Synonymous	12/14	-	1
15-72638639-A-G	c.1358T>C	p.I453T	Missense	12/14	-	1
15-72638645-A-G	c.1352T>C	p.L451P	Missense	12/14	-	1
15-72638646-G-C	c.1351C>G	p.L451V	Missense	12/14	-	6
15-72638648-AG-A	c.1349del	p.A450Vfs*3	Frameshift	12/14	-	1
15-72638653-C-T	c.1344G>A	p.Q448=	Synonymous	12/14	-	1
15-72638658-C-G	c.1339G>C	p.E447Q	Missense	12/14	-	3
15-72638658-C-T	c.1339G>A	p.E447K	Missense	12/14	-	1
15-72638659-A-C	c.1338T>G	p.P446=	Synonymous	12/14	-	1
15-72638659-A-G	c.1338T>C	p.P446=	Synonymous	12/14	-	3
15-72638659-A-T	c.1338T>A	p.P446=	Synonymous	12/14	-	2
15-72638660-G-A	c.1337C>T	p.P446L	Missense	12/14	-	1
15-72638660-G-T	c.1337C>A	p.P446H	Missense	12/14	-	1
15-72638661-G-A	c.1336C>T	p.P446S	Missense	12/14	-	1
15-72638663-G-A	c.1334C>T	p.T445I	Missense	12/14	-	1
15-72638666-C-G	c.1331G>C	p.G444A	Missense	12/14	-	1
15-72638666-C-T	c.1331G>A	p.G444D	Missense	12/14	-	2
15-72638712-C-T	c.1331-46G>A	-	IntronicSNV	-	11/13	5
15-72638867-C-T	c.1330+1G>A	-	IntronicSNV	-	11/13	3
15-72638868-C-T	c.1330G>A	p.G444S	Missense	11/14	-	1
15-72638877-C-T	c.1321G>A	p.A441T	Missense	11/14	-	1
15-72638879-A-G	c.1319T>C	p.L440P	Missense	11/14	-	2
15-72638881-G-A	c.1317C>T	p.P439=	Synonymous	11/14	-	1
15-72638881-G-C	c.1317C>G	p.P439=	Synonymous	11/14	-	1
15-72638881-G-T	c.1317C>A	p.P439=	Synonymous	11/14	-	1
15-72638883-G-A	c.1315C>T	p.P439S	Missense	11/14	-	1
15-72638884-T-C	c.1314A>G	p.E438=	Synonymous	11/14	-	1
15-72638887-C-CGATA	c.1310_1311insTATC	p.E438Ifs*7	Frameshift	11/14	-	3
15-72638889-C-T	c.1309G>A	p.V437M	Missense	11/14	-	4
15-72638890-TAT-AAA	c.1306_1308delinsTTT	p.I436F	Missense	11/14	-	2
15-72638890-T-C	c.1308A>G	p.I436M	Missense	11/14	-	1
15-72638889-CTA-C	c.1307_1308del	p.I436Sfs*7	Frameshift	11/14	-	3
15-72638891-A-G	c.1307T>C	p.I436T	Missense	11/14	-	1
15-72638892-T-C	c.1306A>G	p.I436V	Missense	11/14	-	56
15-72638893-G-A	c.1305C>T	p.Y435=	Synonymous	11/14	-	12
15-72638893-G-T	c.1305C>A	p.Y435*	Nonsense	11/14	-	1
15-72638897-A-G	c.1301T>C	p.F434S	Missense	11/14	-	2
15-72638896-G-C	c.1302C>G	p.F434L	Missense	11/14	-	4
15-72638896-G-T	c.1302C>A	p.F434L	Missense	11/14	-	1
15-72638898-A-G	c.1300T>C	p.F434L	Missense	11/14	-	1
15-72638904-T-G	c.1294A>C	p.K432Q	Missense	11/14	-	1
15-72638908-G-A	c.1290C>T	p.D430=	Synonymous	11/14	-	1
15-72638908-G-C	c.1290C>G	p.D430E	Missense	11/14	-	2
15-72638908-G-T	c.1290C>A	p.D430E	Missense	11/14	-	1
15-72638911-A-C	c.1287T>G	p.P429=	Synonymous	11/14	-	1
15-72638911-A-G	c.1287T>C	p.P429=	Synonymous	11/14	-	1
15-72638911-A-T	c.1287T>A	p.P429=	Synonymous	11/14	-	1
15-72638913-G-A	c.1285C>T	p.P429S	Missense	11/14	-	4
15-72638915-C-T	c.1283G>A	p.G428D	Missense	11/14	-	2
15-72638915-CCATAGGATATA-C	c.1272_1282del	p.I425Pfs*2	Frameshift	11/14	-	1
15-72638917-A-T	c.1281T>A	p.Y427*	Nonsense	11/14	-	1
15-72638918-TA-AT	c.1279_1280delinsAT	p.Y427I	Missense	11/14	-	1
15-72638918-T-C	c.1280A>G	p.Y427C	Missense	11/14	-	1
15-72638917-A-ATAAG	c.1280_1281insCTTA	p.G428Lfs*4	Frameshift	11/14	-	1
15-72638919-A-AT	c.1278_1279insA	p.Y427Ifs*4	Frameshift	11/14	-	1
15-72638919-A-G	c.1279T>C	p.Y427H	Missense	11/14	-	1
15-72638920-G-GGATA	c.1274_1277dup	p.Y427Ifs*5	Frameshift	11/14	-	10
15-72638921-GA-AG	c.1276_1277delinsCT	p.S426L	Missense	11/14	-	1
15-72638921-G-GGATA	c.1276_1277insTATC	p.S426Lfs*6	Frameshift	11/14	-	1
15-72638921-G-T	c.1277C>A	p.S426Y	Missense	11/14	-	1
15-72638923-T-C	c.1275A>G	p.I425M	Missense	11/14	-	2
15-72638925-T-C	c.1273A>G	p.I425V	Missense	11/14	-	3
15-72638926-ACG-CCA	c.1270_1272delinsTGG	p.R424W	Missense	11/14	-	2
15-72638926-AC-TT	c.1271_1272delinsAA	p.R424Q	Missense	11/14	-	1
15-72638927-C-G	c.1271G>C	p.R424P	Missense	11/14	-	1
15-72638927-C-T	c.1271G>A	p.R424H	Missense	11/14	-	1
15-72638928-G-A	c.1270C>T	p.R424C	Missense	11/14	-	3
15-72638928-G-T	c.1270C>A	p.R424S	Missense	11/14	-	1
15-72638931-T-C	c.1267A>G	p.N423D	Missense	11/14	-	1
15-72638934-G-C	c.1264C>G	p.L422V	Missense	11/14	-	1
15-72638935-G-A	c.1263C>T	p.Y421=	Synonymous	11/14	-	2
15-72638938-C-A	c.1260G>T	p.W420C	Missense	11/14	-	4
15-72638938-C-G	c.1260G>C	p.W420C	Missense	11/14	-	10
15-72638939-C-T	c.1259G>A	p.W420*	Nonsense	11/14	-	2
15-72638941-G-T	c.1257C>A	p.P419=	Synonymous	11/14	-	2
15-72638944-G-A	c.1254C>T	p.A418=	Synonymous	11/14	-	1
15-72638944-G-C	c.1254C>G	p.A418=	Synonymous	11/14	-	1
15-72638944-G-T	c.1254C>A	p.A418=	Synonymous	11/14	-	1
15-72638940-A-AG	c.1257dup	p.W420Lfs*11	Frameshift	11/14	-	1
15-72638945-G-C	c.1253C>G	p.A418G	Missense	11/14	-	1
15-72638948-G-A	c.1250C>T	p.S417F	Missense	11/14	-	1
15-72638949-A-G	c.1249T>C	p.S417P	Missense	11/14	-	1
15-72638956-G-T	c.1242C>A	p.A414=	Synonymous	11/14	-	1
15-72638957-G-A	c.1241C>T	p.A414V	Missense	11/14	-	1
15-72638960-C-G	c.1238G>C	p.R413P	Missense	11/14	-	1
15-72638960-C-T	c.1238G>A	p.R413Q	Missense	11/14	-	1
15-72638961-G-A	c.1237C>T	p.R413W	Missense	11/14	-	6
15-72638962-G-A	c.1236C>T	p.F412=	Synonymous	11/14	-	1
15-72638964-A-C	c.1234T>G	p.F412V	Missense	11/14	-	5
15-72638964-A-T	c.1234T>A	p.F412I	Missense	11/14	-	3
15-72638967-C-T	c.1231G>A	p.G411S	Missense	11/14	-	6
15-72638968-G-A	c.1230C>T	p.A410=	Synonymous	11/14	-	1
15-72638968-G-C	c.1230C>G	p.A410=	Synonymous	11/14	-	1
15-72638968-G-T	c.1230C>A	p.A410=	Synonymous	11/14	-	1
15-72638969-G-A	c.1229C>T	p.A410V	Missense	11/14	-	5
15-72638972-T-C	c.1226A>G	p.K409R	Missense	11/14	-	1
15-72638973-T-G	c.1225A>C	p.K409Q	Missense	11/14	-	1
15-72638974-GG-CA	c.1223_1224delinsTG	p.T408M	Missense	11/14	-	1
15-72638982-G-A	c.1216C>T	p.L406=	Synonymous	11/14	-	2
15-72638983-T-A	c.1215A>T	p.E405D	Missense	11/14	-	1
15-72638983-T-G	c.1215A>C	p.E405D	Missense	11/14	-	1
15-72638984-T-G	c.1214A>C	p.E405A	Missense	11/14	-	1
15-72638989-C-A	c.1209G>T	p.E403D	Missense	11/14	-	1
15-72638991-C-T	c.1207G>A	p.E403K	Missense	11/14	-	1
15-72638993-T-C	c.1205A>G	p.K402R	Missense	11/14	-	1
15-72638994-T-C	c.1204A>G	p.K402E	Missense	11/14	-	1
15-72638995-C-A	c.1203G>T	p.M401I	Missense	11/14	-	1
15-72638995-C-G	c.1203G>C	p.M401I	Missense	11/14	-	1
15-72638995-C-T	c.1203G>A	p.M401I	Missense	11/14	-	1
15-72638995-CAT-C	c.1201_1202del	p.M401Efs*29	Frameshift	11/14	-	1
15-72639002-T-A	c.1196A>T	p.N399I	Missense	11/14	-	1
15-72639002-T-C	c.1196A>G	p.N399S	Missense	11/14	-	1
15-72639002-T-G	c.1196A>C	p.N399T	Missense	11/14	-	1
15-72639003-T-C	c.1195A>G	p.N399D	Missense	11/14	-	14
15-72639005-A-G	c.1193T>C	p.V398A	Missense	11/14	-	1
15-72639009-G-A	c.1189C>T	p.P397S	Missense	11/14	-	1
15-72639010-AA-CT	c.1187_1188delinsAG	p.I396K	Missense	11/14	-	1
15-72639015-C-A	c.1183G>T	p.D395Y	Missense	11/14	-	1
15-72639016-C-A	c.1182G>T	p.E394D	Missense	11/14	-	2
15-72639016-C-G	c.1182G>C	p.E394D	Missense	11/14	-	2
15-72639016-C-T	c.1182G>A	p.E394=	Synonymous	11/14	-	1
15-72639017-T-C	c.1181A>G	p.E394G	Missense	11/14	-	1
15-72639019-TCG-ACA	c.1177_1179delinsTGT	p.R393C	Missense	11/14	-	1
15-72639020-C-G	c.1178G>C	p.R393P	Missense	11/14	-	10
15-72639020-C-T	c.1178G>A	p.R393Q	Missense	11/14	-	4
15-72639021-G-A	c.1177C>T	p.R393*	Nonsense	11/14	-	13
15-72639022-C-T	c.1176G>A	p.W392*	Nonsense	11/14	-	8
15-72639023-C-T	c.1175G>A	p.W392*	Nonsense	11/14	-	6
15-72639027-C-T	c.1171G>A	p.V391M	Missense	11/14	-	3
15-72639030-G-A	c.1168C>T	p.Q390*	Nonsense	11/14	-	3
15-72639030-G-C	c.1168C>G	p.Q390E	Missense	11/14	-	1
15-72639030-TG-T	c.1168del	p.Q390Rfs*9	Frameshift	11/14	-	1
15-72639032-A-G	c.1166T>C	p.I389T	Missense	11/14	-	1
15-72639033-T-C	c.1165A>G	p.I389V	Missense	11/14	-	1
15-72639034-G-C	c.1164C>G	p.I388M	Missense	11/14	-	2
15-72639038-G-A	c.1160C>T	p.T387I	Missense	11/14	-	1
15-72639043-T-A	c.1155A>T	p.P385=	Synonymous	11/14	-	1
15-72639043-T-C	c.1155A>G	p.P385=	Synonymous	11/14	-	1
15-72639043-T-G	c.1155A>C	p.P385=	Synonymous	11/14	-	1
15-72639044-G-A	c.1154C>T	p.P385L	Missense	11/14	-	2
15-72639044-G-T	c.1154C>A	p.P385Q	Missense	11/14	-	1
15-72639048-G-A	c.1150C>T	p.Q384*	Nonsense	11/14	-	3
15-72639048-G-C	c.1150C>G	p.Q384E	Missense	11/14	-	1
15-72639048-GA-G	c.1149del	p.Q384Sfs*15	Frameshift	11/14	-	1
15-72639563-T-C	c.1146+464A>G	-	IntronicSNV	-	10/13	1
15-72639635-G-A	c.1146+392C>T	-	IntronicSNV	-	10/13	1
15-72639654-C-T	c.1146+373G>A	-	IntronicSNV	-	10/13	1
15-72639675-A-C	c.1146+352T>G	-	IntronicSNV	-	10/13	1
15-72639676-C-T	c.1146+351G>A	-	IntronicSNV	-	10/13	1
15-72639697-C-G	c.1146+330G>C	-	IntronicSNV	-	10/13	1
15-72639697-C-T	c.1146+330G>A	-	IntronicSNV	-	10/13	1
15-72639761-T-C	c.1146+266A>G	-	IntronicSNV	-	10/13	2
15-72639842-T-G	c.1146+185A>C	-	IntronicSNV	-	10/13	1
15-72640017-C-A	c.1146+10G>T	-	IntronicSNV	-	10/13	1
15-72640026-C-T	c.1146+1G>A	-	IntronicSNV	-	10/13	1
15-72640032-C-CTTA	c.1140_1141insTAA	p.K380_V381ins*	InFrameInsertion	10/14	-	1
15-72640034-T-C	c.1139A>G	p.K380R	Missense	10/14	-	1
15-72640032-CT-C	c.1140del	p.V381*	Frameshift	10/14	-	1
15-72640043-A-C	c.1130T>G	p.F377C	Missense	10/14	-	2
15-72640046-A-C	c.1127T>G	p.V376G	Missense	10/14	-	4
15-72640046-A-G	c.1127T>C	p.V376A	Missense	10/14	-	2
15-72640049-T-A	c.1124A>T	p.E375V	Missense	10/14	-	1
15-72640049-T-C	c.1124A>G	p.E375G	Missense	10/14	-	1
15-72640050-C-T	c.1123G>A	p.E375K	Missense	10/14	-	1
15-72640049-TC-T	c.1123del	p.E375Rfs*7	Frameshift	10/14	-	3
15-72640052-T-C	c.1121A>G	p.Q374R	Missense	10/14	-	2
15-72640052-T-G	c.1121A>C	p.Q374P	Missense	10/14	-	4
15-72640056-A-G	c.1117T>C	p.W373R	Missense	10/14	-	1
15-72640056-A-T	c.1117T>A	p.W373R	Missense	10/14	-	1
15-72640057-C-G	c.1116G>C	p.V372=	Synonymous	10/14	-	1
15-72640059-C-A	c.1114G>T	p.V372L	Missense	10/14	-	1
15-72640059-C-T	c.1114G>A	p.V372M	Missense	10/14	-	1
15-72640061-A-G	c.1112T>C	p.V371A	Missense	10/14	-	1
15-72640062-C-T	c.1111G>A	p.V371M	Missense	10/14	-	1
15-72640064-T-C	c.1109A>G	p.Y370C	Missense	10/14	-	4
15-72640065-A-G	c.1108T>C	p.Y370H	Missense	10/14	-	1
15-72640066-G-A	c.1107C>T	p.G369=	Synonymous	10/14	-	3
15-72640066-G-C	c.1107C>G	p.G369=	Synonymous	10/14	-	2
15-72640066-G-T	c.1107C>A	p.G369=	Synonymous	10/14	-	4
15-72640070-T-C	c.1103A>G	p.K368R	Missense	10/14	-	1
15-72640072-G-A	c.1101C>T	p.G367=	Synonymous	10/14	-	1
15-72640072-G-C	c.1101C>G	p.G367=	Synonymous	10/14	-	1
15-72640072-G-T	c.1101C>A	p.G367=	Synonymous	10/14	-	1
15-72640074-C-A	c.1099G>T	p.G367C	Missense	10/14	-	2
15-72640075-A-C	c.1098T>G	p.Y366*	Nonsense	10/14	-	1
15-72640077-A-T	c.1096T>A	p.Y366N	Missense	10/14	-	5
15-72640079-GA-TC	c.1093_1094inv	p.S365D	Missense	10/14	-	1
15-72640082-G-A	c.1091C>T	p.S364F	Missense	10/14	-	1
15-72640083-A-C	c.1090T>G	p.S364A	Missense	10/14	-	1
15-72640084-G-GA	c.1088dup	p.S364Lfs*15	Frameshift	10/14	-	1
15-72640085-AC-TA	c.1087_1088delinsTA	p.V363Y	Missense	10/14	-	1
15-72640085-A-T	c.1088T>A	p.V363D	Missense	10/14	-	2
15-72640086-C-A	c.1087G>T	p.V363F	Missense	10/14	-	3
15-72640086-C-T	c.1087G>A	p.V363I	Missense	10/14	-	3
15-72640088-A-G	c.1085T>C	p.I362T	Missense	10/14	-	2
15-72640089-T-C	c.1084A>G	p.I362V	Missense	10/14	-	3
15-72640092-C-A	c.1081G>T	p.D361Y	Missense	10/14	-	1
15-72640093-C-A	c.1080G>T	p.L360=	Synonymous	10/14	-	2
15-72640093-C-G	c.1080G>C	p.L360=	Synonymous	10/14	-	2
15-72640093-C-T	c.1080G>A	p.L360=	Synonymous	10/14	-	2
15-72640095-G-A	c.1078C>T	p.L360=	Synonymous	10/14	-	2
15-72640095-G-T	c.1078C>A	p.L360M	Missense	10/14	-	1
15-72640098-G-C	c.1075C>G	p.L359V	Missense	10/14	-	1
15-72640193-G-T	c.1074-94C>A	-	IntronicSNV	-	9/13	4
15-72640226-T-A	c.1074-127A>T	-	IntronicSNV	-	9/13	4
15-72640226-T-C	c.1074-127A>G	-	IntronicSNV	-	9/13	4
15-72640388-C-A	c.1073+1G>T	-	IntronicSNV	-	9/13	5
15-72640388-C-G	c.1073+1G>C	-	IntronicSNV	-	9/13	5
15-72640388-C-T	c.1073+1G>A	-	IntronicSNV	-	9/13	30
15-72640389-G-A	c.1073C>T	p.T358M	Missense	9/14	-	6
15-72640393-G-A	c.1069C>T	p.Q357*	Nonsense	9/14	-	1
15-72640396-T-A	c.1066A>T	p.I356F	Missense	9/14	-	1
15-72640396-T-C	c.1066A>G	p.I356V	Missense	9/14	-	1
15-72640397-G-A	c.1065C>T	p.Y355=	Synonymous	9/14	-	1
15-72640401-A-G	c.1061T>C	p.F354S	Missense	9/14	-	1
15-72640403-G-A	c.1059C>T	p.S353=	Synonymous	9/14	-	1
15-72640405-A-C	c.1057T>G	p.S353A	Missense	9/14	-	2
15-72640411-G-A	c.1051C>T	p.L351=	Synonymous	9/14	-	1
15-72640416-CTTGA-C	c.1043_1046del	p.F348Cfs*33	Frameshift	9/14	-	1
15-72640419-A-G	c.1043T>C	p.F348S	Missense	9/14	-	2
15-72640423-C-A	c.1039G>T	p.D347Y	Missense	9/14	-	1
15-72640423-C-T	c.1039G>A	p.D347N	Missense	9/14	-	1
15-72640426-C-A	c.1036G>T	p.E346*	Nonsense	9/14	-	1
15-72640429-C-T	c.1033G>A	p.G345S	Missense	9/14	-	5
15-72640430-G-A	c.1032C>T	p.F344=	Synonymous	9/14	-	2
15-72640431-A-G	c.1031T>C	p.F344S	Missense	9/14	-	1
15-72640434-C-A	c.1028G>T	p.G343V	Missense	9/14	-	3
15-72640434-C-G	c.1028G>C	p.G343A	Missense	9/14	-	1
15-72640437-T-C	c.1025A>G	p.K342R	Missense	9/14	-	3
15-72640440-T-C	c.1022A>G	p.K341R	Missense	9/14	-	1
15-72640442-C-T	c.1020G>A	p.R340=	Synonymous	9/14	-	1
15-72640444-T-G	c.1018A>C	p.R340=	Synonymous	9/14	-	1
15-72640448-A-C	c.1014T>G	p.F338L	Missense	9/14	-	1
15-72640448-A-G	c.1014T>C	p.F338=	Synonymous	9/14	-	1
15-72640454-C-A	c.1008G>T	p.Q336H	Missense	9/14	-	1
15-72640454-C-G	c.1008G>C	p.Q336H	Missense	9/14	-	1
15-72640458-A-G	c.1004T>C	p.I335T	Missense	9/14	-	1
15-72640459-T-A	c.1003A>T	p.I335F	Missense	9/14	-	6
15-72640461-T-C	c.1001A>G	p.E334G	Missense	9/14	-	1
15-72640465-G-T	c.997C>A	p.P333T	Missense	9/14	-	1
15-72640472-CTT-ACA	c.988_990delinsTGT	p.K330C	Missense	9/14	-	1
15-72640475-C-T	c.987G>A	p.W329*	Nonsense	9/14	-	2
15-72640563-C-T	c.987-88G>A	-	IntronicSNV	-	8/13	2
15-72641417-T-C	c.986+3A>G	-	IntronicSNV	-	8/13	8
15-72641423-C-T	c.983G>A	p.C328Y	Missense	8/14	-	1
15-72641426-G-A	c.980C>T	p.T327I	Missense	8/14	-	1
15-72641428-G-A	c.978C>T	p.F326=	Synonymous	8/14	-	1
15-72641428-GA-G	c.977del	p.F326Sfs*14	Frameshift	8/14	-	1
15-72641433-C-T	c.973G>A	p.D325N	Missense	8/14	-	6
15-72641434-A-C	c.972T>G	p.V324=	Synonymous	8/14	-	2
15-72641434-A-G	c.972T>C	p.V324=	Synonymous	8/14	-	3
15-72641434-A-T	c.972T>A	p.V324=	Synonymous	8/14	-	5
15-72641439-C-T	c.967G>A	p.E323K	Missense	8/14	-	2
15-72641441-ATCT-A	c.963_965del	p.D322del	InFrameDeletion	8/14	-	1
15-72641441-T-A	c.965A>T	p.D322V	Missense	8/14	-	2
15-72641441-T-C	c.965A>G	p.D322G	Missense	8/14	-	1
15-72641442-C-A	c.964G>T	p.D322Y	Missense	8/14	-	9
15-72641442-C-T	c.964G>A	p.D322N	Missense	8/14	-	7
15-72641444-C-G	c.962G>C	p.G321A	Missense	8/14	-	1
15-72641444-C-T	c.962G>A	p.G321E	Missense	8/14	-	1
15-72641445-C-T	c.961G>A	p.G321R	Missense	8/14	-	1
15-72641441-TCTC-T	c.962_964del	p.G321del	InFrameDeletion	8/14	-	1
15-72641446-TC-GT	c.959_960delinsAC	p.G320D	Missense	8/14	-	1
15-72641447-CC-GT	c.958_959delinsAC	p.G320T	Missense	8/14	-	1
15-72641450-A-T	c.956T>A	p.L319H	Missense	8/14	-	1
15-72641451-G-A	c.955C>T	p.L319F	Missense	8/14	-	1
15-72641453-T-C	c.953A>G	p.H318R	Missense	8/14	-	2
15-72641454-G-C	c.952C>G	p.H318D	Missense	8/14	-	1
15-72641453-TGAA-T	c.950_952del	p.L317del	InFrameDeletion	8/14	-	1
15-72641457-G-C	c.949C>G	p.L317V	Missense	8/14	-	1
15-72641458-A-C	c.948T>G	p.Y316*	Nonsense	8/14	-	1
15-72641458-A-AT	c.947dup	p.Y316*	Nonsense	8/14	-	2
15-72641459-T-C	c.947A>G	p.Y316C	Missense	8/14	-	3
15-72641460-A-G	c.946T>C	p.Y316H	Missense	8/14	-	1
15-72641461-A-C	c.945T>G	p.F315L	Missense	8/14	-	1
15-72641461-A-T	c.945T>A	p.F315L	Missense	8/14	-	1
15-72641463-A-G	c.943T>C	p.F315L	Missense	8/14	-	1
15-72641465-T-A	c.941A>T	p.D314V	Missense	8/14	-	4
15-72641470-G-A	c.936C>T	p.F312=	Synonymous	8/14	-	1
15-72641475-C-A	c.931G>T	p.V311F	Missense	8/14	-	1
15-72641475-C-T	c.931G>A	p.V311I	Missense	8/14	-	1
15-72641477-GA-TT	c.928_929delinsAA	p.S310N	Missense	8/14	-	1
15-72641475-CAG-C	c.929_930del	p.S310Cfs*13	Frameshift	8/14	-	5
15-72641486-T-C	c.920A>G	p.E307G	Missense	8/14	-	1
15-72641486-T-G	c.920A>C	p.E307A	Missense	8/14	-	1
15-72641487-C-T	c.919G>A	p.E307K	Missense	8/14	-	2
15-72641491-G-A	c.915C>T	p.F305=	Synonymous	8/14	-	1
15-72641488-TAAG-T	c.915_917del	p.F305del	InFrameDeletion	8/14	-	7
15-72641494-G-A	c.912C>T	p.F304=	Synonymous	8/14	-	1
15-72641494-G-C	c.912C>G	p.F304L	Missense	8/14	-	3
15-72641494-G-T	c.912C>A	p.F304L	Missense	8/14	-	2
15-72641496-A-G	c.910T>C	p.F304L	Missense	8/14	-	1
15-72641498-G-A	c.908C>T	p.T303I	Missense	8/14	-	1
15-72641499-T-A	c.907A>T	p.T303S	Missense	8/14	-	1
15-72641502-T-G	c.904A>C	p.S302R	Missense	8/14	-	1
15-72641504-A-C	c.902T>G	p.M301R	Missense	8/14	-	9
15-72641505-T-A	c.901A>T	p.M301L	Missense	8/14	-	1
15-72641505-T-G	c.901A>C	p.M301L	Missense	8/14	-	1
15-72641500-GCTCATGAA-G	c.898_905del	p.F300Hfs*21	Frameshift	8/14	-	3
15-72641510-T-G	c.896A>C	p.E299A	Missense	8/14	-	1
15-72641516-G-A	c.890C>T	p.T297I	Missense	8/14	-	2
15-72641516-GT-CC	c.889_890delinsGG	p.T297G	Missense	8/14	-	1
15-72641517-T-C	c.889A>G	p.T297A	Missense	8/14	-	2
15-72641519-T-G	c.887A>C	p.N296T	Missense	8/14	-	1
15-72641522-T-C	c.884A>G	p.N295S	Missense	8/14	-	5
15-72641525-A-C	c.881T>G	p.L294R	Missense	8/14	-	1
15-72641528-C-A	c.878G>T	p.S293I	Missense	8/14	-	2
15-72641528-CT-AA	c.877_878delinsTT	p.S293F	Missense	8/14	-	1
15-72641529-T-C	c.877A>G	p.S293G	Missense	8/14	-	1
15-72641531-G-A	c.875C>T	p.P292L	Missense	8/14	-	4
15-72641532-G-A	c.874C>T	p.P292S	Missense	8/14	-	1
15-72641534-T-C	c.872A>G	p.N291S	Missense	8/14	-	1
15-72641535-T-G	c.871A>C	p.N291H	Missense	8/14	-	1
15-72641539-TG-AT	c.866_867delinsAT	p.P289H	Missense	8/14	-	1
15-72641539-T-TGATA	c.866_867insTATC	p.V290Ifs*8	Frameshift	8/14	-	1
15-72641544-C-A	c.862G>T	p.G288*	Nonsense	8/14	-	1
15-72641547-A-T	c.859T>A	p.F287I	Missense	8/14	-	1
15-72641549-G-A	c.857C>T	p.T286I	Missense	8/14	-	1
15-72641549-GT-CA	c.856_857delinsTG	p.T286C	Missense	8/14	-	1
15-72641550-T-C	c.856A>G	p.T286A	Missense	8/14	-	4
15-72641556-A-G	c.850T>C	p.S284P	Missense	8/14	-	1
15-72641557-GG-TT	c.848_849delinsAA	p.P283Q	Missense	8/14	-	1
15-72641558-G-A	c.848C>T	p.P283L	Missense	8/14	-	1
15-72641561-T-C	c.845A>G	p.E282G	Missense	8/14	-	1
15-72641565-A-T	c.841T>A	p.S281T	Missense	8/14	-	1
15-72641566-CCC-GCT	c.838_840delinsAGC	p.G280S	Missense	8/14	-	3
15-72641568-C-T	c.838G>A	p.G280R	Missense	8/14	-	1
15-72641569-A-G	c.837T>C	p.S279=	Synonymous	8/14	-	1
15-72641570-G-C	c.836C>G	p.S279C	Missense	8/14	-	4
15-72641571-A-G	c.835T>C	p.S279P	Missense	8/14	-	4
15-72641573-T-A	c.833A>T	p.Y278F	Missense	8/14	-	1
15-72641576-CA-GC	c.829_830delinsGC	p.C277A	Missense	8/14	-	1
15-72641577-A-C	c.829T>G	p.C277G	Missense	8/14	-	1
15-72641577-A-G	c.829T>C	p.C277R	Missense	8/14	-	1
15-72641579-G-A	c.827C>T	p.P276L	Missense	8/14	-	2
15-72641580-G-C	c.826C>G	p.P276A	Missense	8/14	-	2
15-72641590-T-A	c.816A>T	p.G272=	Synonymous	8/14	-	2
15-72641591-C-T	c.815G>A	p.G272E	Missense	8/14	-	1
15-72641592-C-A	c.814G>T	p.G272*	Nonsense	8/14	-	1
15-72641592-C-T	c.814G>A	p.G272R	Missense	8/14	-	2
15-72641600-C-T	c.806G>A	p.G269D	Missense	8/14	-	5
15-72641648-C-A	c.806-48G>T	-	IntronicSNV	-	7/13	1
15-72642797-C-A	c.805+62G>T	-	IntronicSNV	-	7/13	1
15-72642812-C-G	c.805+47G>C	-	IntronicSNV	-	7/13	1
15-72642858-C-G	c.805+1G>C	-	IntronicSNV	-	7/13	7
15-72642858-C-T	c.805+1G>A	-	IntronicSNV	-	7/13	5
15-72642859-C-G	c.805G>C	p.G269R	Missense	7/14	-	10
15-72642859-C-T	c.805G>A	p.G269S	Missense	7/14	-	62
15-72642868-A-C	c.796T>G	p.W266G	Missense	7/14	-	3
15-72642872-C-A	c.792G>T	p.L264F	Missense	7/14	-	1
15-72642872-C-G	c.792G>C	p.L264F	Missense	7/14	-	1
15-72642874-A-C	c.790T>G	p.L264V	Missense	7/14	-	1
15-72642876-G-A	c.788C>T	p.T263I	Missense	7/14	-	4
15-72642876-G-C	c.788C>G	p.T263S	Missense	7/14	-	1
15-72642878-G-A	c.786C>T	p.H262=	Synonymous	7/14	-	1
15-72642882-C-T	c.782G>A	p.G261D	Missense	7/14	-	4
15-72642886-G-A	c.778C>T	p.P260S	Missense	7/14	-	1
15-72642889-T-C	c.775A>G	p.T259A	Missense	7/14	-	4
15-72642892-C-G	c.772G>C	p.D258H	Missense	7/14	-	10
15-72642892-C-T	c.772G>A	p.D258N	Missense	7/14	-	1
15-72642893-A-C	c.771T>G	p.F257L	Missense	7/14	-	1
15-72642893-A-T	c.771T>A	p.F257L	Missense	7/14	-	1
15-72642895-A-G	c.769T>C	p.F257L	Missense	7/14	-	1
15-72642898-C-G	c.766G>C	p.E256Q	Missense	7/14	-	1
15-72642900-G-A	c.764C>T	p.A255V	Missense	7/14	-	2
15-72642900-G-C	c.764C>G	p.A255G	Missense	7/14	-	1
15-72642901-C-G	c.763G>C	p.A255P	Missense	7/14	-	1
15-72642904-G-C	c.760C>G	p.L254V	Missense	7/14	-	1
15-72642905-C-A	c.759G>T	p.V253=	Synonymous	7/14	-	1
15-72642905-C-CGATA	c.758_759insTATC	p.L254Ifs*6	Frameshift	7/14	-	1
15-72642905-C-G	c.759G>C	p.V253=	Synonymous	7/14	-	1
15-72642905-C-T	c.759G>A	p.V253=	Synonymous	7/14	-	3
15-72642907-C-A	c.757G>T	p.V253L	Missense	7/14	-	2
15-72642907-C-G	c.757G>C	p.V253L	Missense	7/14	-	1
15-72642907-C-CAGAT	c.756_757insATCT	p.V253Ifs*7	Frameshift	7/14	-	1
15-72642908-ACG-CCA	c.754_756delinsTGG	p.R252W	Missense	7/14	-	1
15-72642908-AC-TT	c.755_756delinsAA	p.R252Q	Missense	7/14	-	1
15-72642909-C-A	c.755G>T	p.R252L	Missense	7/14	-	3
15-72642909-CG-GT	c.754_755delinsAC	p.R252T	Missense	7/14	-	1
15-72642909-C-T	c.755G>A	p.R252H	Missense	7/14	-	5
15-72642910-G-A	c.754C>T	p.R252C	Missense	7/14	-	5
15-72642911-G-A	c.753C>T	p.I251=	Synonymous	7/14	-	3
15-72642913-T-C	c.751A>G	p.I251V	Missense	7/14	-	2
15-72642914-AC-CT	c.749_750delinsAG	p.G250E	Missense	7/14	-	1
15-72642915-C-A	c.749G>T	p.G250V	Missense	7/14	-	4
15-72642915-C-G	c.749G>C	p.G250A	Missense	7/14	-	1
15-72642915-C-T	c.749G>A	p.G250D	Missense	7/14	-	8
15-72642916-C-T	c.748G>A	p.G250S	Missense	7/14	-	6
15-72642918-C-T	c.746G>A	p.R249Q	Missense	7/14	-	2
15-72642919-G-A	c.745C>T	p.R249W	Missense	7/14	-	24
15-72642920-G-A	c.744C>T	p.L248=	Synonymous	7/14	-	1
15-72642921-A-C	c.743T>G	p.L248R	Missense	7/14	-	1
15-72642923-CCG-ATA	c.739_741delinsTAT	p.R247Y	Missense	7/14	-	1
15-72642924-C-T	c.740G>A	p.R247Q	Missense	7/14	-	3
15-72642925-G-A	c.739C>T	p.R247W	Missense	7/14	-	33
15-72642927-GC-CT	c.736_737delinsAG	p.A246R	Missense	7/14	-	1
15-72642928-C-A	c.736G>T	p.A246S	Missense	7/14	-	2
15-72642928-C-T	c.736G>A	p.A246T	Missense	7/14	-	4
15-72642929-G-A	c.735C>T	p.Y245=	Synonymous	7/14	-	3
15-72642940-C-G	c.724G>C	p.V242L	Missense	7/14	-	1
15-72642941-C-A	c.723G>T	p.E241D	Missense	7/14	-	4
15-72642941-C-G	c.723G>C	p.E241D	Missense	7/14	-	2
15-72642943-C-T	c.721G>A	p.E241K	Missense	7/14	-	1
15-72642945-T-C	c.719A>G	p.K240R	Missense	7/14	-	1
15-72642945-T-TA	c.718_719insT	p.K240Ifs*5	Frameshift	7/14	-	2
15-72642946-T-C	c.718A>G	p.K240E	Missense	7/14	-	1
15-72642952-C-T	c.712G>A	p.D238N	Missense	7/14	-	1
15-72642953-C-A	c.711G>T	p.Q237H	Missense	7/14	-	1
15-72642955-G-A	c.709C>T	p.Q237*	Nonsense	7/14	-	4
15-72642956-T-C	c.708A>G	p.A236=	Synonymous	7/14	-	1
15-72642956-TGC-ACA	c.706_708delinsTGT	p.A236C	Missense	7/14	-	1
15-72642958-C-T	c.706G>A	p.A236T	Missense	7/14	-	2
15-72642977-A-C	c.687T>G	p.P229=	Synonymous	7/14	-	1
15-72642977-A-G	c.687T>C	p.P229=	Synonymous	7/14	-	1
15-72642977-A-T	c.687T>A	p.P229=	Synonymous	7/14	-	1
15-72642983-G-A	c.681C>T	p.Y227=	Synonymous	7/14	-	1
15-72642983-G-C	c.681C>G	p.Y227*	Nonsense	7/14	-	1
15-72642983-G-T	c.681C>A	p.Y227*	Nonsense	7/14	-	1
15-72642984-T-G	c.680A>C	p.Y227S	Missense	7/14	-	2
15-72642985-A-G	c.679T>C	p.Y227H	Missense	7/14	-	1
15-72642987-G-A	c.677C>T	p.S226F	Missense	7/14	-	5
15-72643285-G-T	c.672+189C>A	-	IntronicSNV	-	6/13	3
15-72643411-C-A	c.672+63G>T	-	IntronicSNV	-	6/13	1
15-72643416-C-T	c.672+58G>A	-	IntronicSNV	-	6/13	1
15-72643444-A-C	c.672+30T>G	-	IntronicSNV	-	6/13	9
15-72643449-T-C	c.672+25A>G	-	IntronicSNV	-	6/13	1
15-72643466-G-A	c.672+8C>T	-	IntronicSNV	-	6/13	1
15-72643468-A-G	c.672+6T>C	-	IntronicSNV	-	6/13	1
15-72643472-A-G	c.672+2T>C	-	IntronicSNV	-	6/13	1
15-72643473-C-A	c.672+1G>T	-	IntronicSNV	-	6/13	2
15-72643473-C-T	c.672+1G>A	-	IntronicSNV	-	6/13	3
15-72643474-CCTT-C	c.670_672del	p.K224del	InFrameDeletion	6/14	-	1
15-72643479-T-A	c.667A>T	p.R223*	Nonsense	6/14	-	1
15-72643480-C-A	c.666G>T	p.M222I	Missense	6/14	-	2
15-72643480-C-G	c.666G>C	p.M222I	Missense	6/14	-	1
15-72643480-C-T	c.666G>A	p.M222I	Missense	6/14	-	1
15-72643482-T-A	c.664A>T	p.M222L	Missense	6/14	-	1
15-72643482-T-C	c.664A>G	p.M222V	Missense	6/14	-	1
15-72643482-T-G	c.664A>C	p.M222L	Missense	6/14	-	1
15-72643490-G-A	c.656C>T	p.P219L	Missense	6/14	-	1
15-72643491-G-A	c.655C>T	p.P219S	Missense	6/14	-	5
15-72643496-G-A	c.650C>T	p.T217I	Missense	6/14	-	2
15-72643496-G-C	c.650C>G	p.T217S	Missense	6/14	-	5
15-72643497-T-A	c.649A>T	p.T217S	Missense	6/14	-	1
15-72643497-T-C	c.649A>G	p.T217A	Missense	6/14	-	1
15-72643499-A-C	c.647T>G	p.F216C	Missense	6/14	-	1
15-72643506-C-T	c.640G>A	p.E214K	Missense	6/14	-	1
15-72643508-T-C	c.638A>G	p.Y213C	Missense	6/14	-	1
15-72643509-A-G	c.637T>C	p.Y213H	Missense	6/14	-	2
15-72643511-G-T	c.635C>A	p.P212Q	Missense	6/14	-	1
15-72643512-G-A	c.634C>T	p.P212S	Missense	6/14	-	3
15-72643514-A-G	c.632T>C	p.F211S	Missense	6/14	-	9
15-72643516-G-A	c.630C>T	p.S210=	Synonymous	6/14	-	4
15-72643516-G-C	c.630C>G	p.S210=	Synonymous	6/14	-	1
15-72643516-G-T	c.630C>A	p.S210=	Synonymous	6/14	-	1
15-72643517-G-A	c.629C>T	p.S210F	Missense	6/14	-	6
15-72643518-A-C	c.628T>G	p.S210A	Missense	6/14	-	3
15-72643521-G-C	c.625C>G	p.P209A	Missense	6/14	-	1
15-72643523-T-A	c.623A>T	p.D208V	Missense	6/14	-	1
15-72643524-TC-T	c.622del	p.D208Ifs*15	Frameshift	6/14	-	1
15-72643525-A-C	c.621T>G	p.D207E	Missense	6/14	-	1
15-72643525-A-T	c.621T>A	p.D207E	Missense	6/14	-	1
15-72643527-C-G	c.619G>C	p.D207H	Missense	6/14	-	1
15-72643529-A-C	c.617T>G	p.V206G	Missense	6/14	-	1
15-72643530-C-G	c.616G>C	p.V206L	Missense	6/14	-	3
15-72643530-C-T	c.616G>A	p.V206I	Missense	6/14	-	1
15-72643531-C-G	c.615G>C	p.L205=	Synonymous	6/14	-	1
15-72643535-T-A	c.611A>T	p.H204L	UnclassifiedSNV	6/14	-	2
15-72643535-T-C	c.611A>G	p.H204R	Missense	6/14	-	8
15-72643535-T-G	c.611A>C	p.H204P	Missense	6/14	-	1
15-72643537-C-A	c.609G>T	p.W203C	Missense	6/14	-	1
15-72643537-C-G	c.609G>C	p.W203C	Missense	6/14	-	1
15-72643537-C-T	c.609G>A	p.W203*	Nonsense	6/14	-	3
15-72643538-C-T	c.608G>A	p.W203*	Nonsense	6/14	-	1
15-72643539-A-C	c.607T>G	p.W203G	Missense	6/14	-	1
15-72643541-T-A	c.605A>T	p.H202L	Missense	6/14	-	1
15-72643541-T-C	c.605A>G	p.H202R	Missense	6/14	-	2
15-72643541-T-G	c.605A>C	p.H202P	Missense	6/14	-	1
15-72643548-C-T	c.598G>A	p.V200M	Missense	6/14	-	6
15-72643549-G-A	c.597C>T	p.N199=	Synonymous	6/14	-	1
15-72643549-G-C	c.597C>G	p.N199K	Missense	6/14	-	1
15-72643549-G-T	c.597C>A	p.N199K	Missense	6/14	-	1
15-72643550-T-A	c.596A>T	p.N199I	Missense	6/14	-	1
15-72643556-T-G	c.590A>C	p.K197T	Missense	6/14	-	4
15-72643559-T-C	c.587A>G	p.N196S	Missense	6/14	-	4
15-72643560-T-G	c.586A>C	p.N196H	Missense	6/14	-	1
15-72643565-G-A	c.581C>T	p.A194V	Missense	6/14	-	2
15-72643565-G-C	c.581C>G	p.A194G	Missense	6/14	-	1
15-72643565-G-T	c.581C>A	p.A194E	Missense	6/14	-	1
15-72643566-C-T	c.580G>A	p.A194T	Missense	6/14	-	1
15-72643569-T-C	c.577A>G	p.M193V	Missense	6/14	-	2
15-72643572-C-G	c.574G>C	p.V192L	Missense	6/14	-	4
15-72643572-C-T	c.574G>A	p.V192I	Missense	6/14	-	1
15-72643573-A-C	c.573T>G	p.D191E	Missense	6/14	-	1
15-72643576-C-A	c.571-1G>T	-	IntronicSNV	-	5/13	2
15-72644973-AT-A	c.570+435del	-	IntronicDeletion	-	5/13	1
15-72645319-C-T	c.570+90G>A	-	IntronicSNV	-	5/13	1
15-72645352-C-T	c.570+57G>A	-	IntronicSNV	-	5/13	4
15-72645408-C-T	c.570+1G>A	-	IntronicSNV	-	5/13	1
15-72645409-C-A	c.570G>T	p.L190=	Synonymous	5/14	-	2
15-72645410-A-G	c.569T>C	p.L190P	Missense	5/14	-	1
15-72645411-G-A	c.568C>T	p.L190=	Synonymous	5/14	-	1
15-72645413-G-C	c.566C>G	p.T189S	Missense	5/14	-	2
15-72645417-C-T	c.562G>A	p.D188N	Missense	5/14	-	1
15-72645418-C-A	c.561G>T	p.L187=	Synonymous	5/14	-	1
15-72645418-C-G	c.561G>C	p.L187=	Synonymous	5/14	-	1
15-72645418-C-T	c.561G>A	p.L187=	Synonymous	5/14	-	1
15-72645420-G-A	c.559C>T	p.L187=	Synonymous	5/14	-	1
15-72645420-G-T	c.559C>A	p.L187M	Missense	5/14	-	3
15-72645422-A-G	c.557T>C	p.I186T	Missense	5/14	-	1
15-72645428-G-A	c.551C>T	p.S184F	Missense	5/14	-	1
15-72645428-GA-CC	c.550_551delinsGG	p.S184G	Missense	5/14	-	1
15-72645428-G-T	c.551C>A	p.S184Y	Missense	5/14	-	1
15-72645428-G-GATT	c.550_551insAAT	p.L183_S184ins*	InFrameInsertion	5/14	-	1
15-72645431-A-T	c.548T>A	p.L183H	Missense	5/14	-	2
15-72645432-G-GT	c.546dup	p.L183Tfs*3	Frameshift	5/14	-	2
15-72645434-G-A	c.545C>T	p.P182L	Missense	5/14	-	3
15-72645438-G-A	c.541C>T	p.L181=	Synonymous	5/14	-	1
15-72645439-G-C	c.540C>G	p.Y180*	Nonsense	5/14	-	2
15-72645439-G-T	c.540C>A	p.Y180*	Nonsense	5/14	-	1
15-72645440-GTAAT-G	c.536_539del	p.H179Pfs*19	Frameshift	5/14	-	1
15-72645440-T-G	c.539A>C	p.Y180S	Missense	5/14	-	4
15-72645441-A-G	c.538T>C	p.Y180H	Missense	5/14	-	6
15-72645443-T-C	c.536A>G	p.H179R	Missense	5/14	-	3
15-72645444-G-A	c.535C>T	p.H179Y	Missense	5/14	-	1
15-72645445-GCG-CCA	c.532_534delinsTGG	p.R178W	Missense	5/14	-	1
15-72645446-C-A	c.533G>T	p.R178L	Missense	5/14	-	8
15-72645446-C-G	c.533G>C	p.R178P	Missense	5/14	-	2
15-72645446-C-T	c.533G>A	p.R178H	Missense	5/14	-	34
15-72645447-G-A	c.532C>T	p.R178C	Missense	5/14	-	11
15-72645449-G-A	c.530C>T	p.S177F	Missense	5/14	-	1
15-72645449-G-C	c.530C>G	p.S177C	Missense	5/14	-	2
15-72645455-T-G	c.524A>C	p.D175A	Missense	5/14	-	6
15-72645455-TC-T	c.523del	p.D175Ifs*24	Frameshift	5/14	-	1
15-72645459-A-G	c.520T>C	p.L174=	Synonymous	5/14	-	1
15-72645460-C-A	c.519G>T	p.L173=	Synonymous	5/14	-	1
15-72645460-C-G	c.519G>C	p.L173=	Synonymous	5/14	-	1
15-72645460-C-T	c.519G>A	p.L173=	Synonymous	5/14	-	1
15-72645462-G-A	c.517C>T	p.L173=	Synonymous	5/14	-	1
15-72645461-A-G	c.518T>C	p.L173P	Missense	5/14	-	1
15-72645468-C-A	c.511G>T	p.G171C	Missense	5/14	-	1
15-72645470-C-T	c.509G>A	p.R170Q	Missense	5/14	-	13
15-72645471-G-A	c.508C>T	p.R170W	Missense	5/14	-	18
15-72645481-GCG-TCA	c.496_498delinsTGA	p.R166*	Nonsense	5/14	-	1
15-72645481-GC-TT	c.497_498delinsAA	p.R166Q	Missense	5/14	-	1
15-72645482-C-A	c.497G>T	p.R166L	Missense	5/14	-	1
15-72645482-C-T	c.497G>A	p.R166H	Missense	5/14	-	2
15-72645483-G-A	c.496C>T	p.R166C	Missense	5/14	-	1
15-72645483-G-C	c.496C>G	p.R166G	Missense	5/14	-	5
15-72645485-G-A	c.494C>T	p.P165L	Missense	5/14	-	1
15-72645486-G-A	c.493C>T	p.P165S	Missense	5/14	-	4
15-72645486-G-C	c.493C>G	p.P165A	Missense	5/14	-	1
15-72645488-A-C	c.491T>G	p.F164C	Missense	5/14	-	1
15-72645490-G-C	c.489C>G	p.D163E	Missense	5/14	-	1
15-72645490-G-T	c.489C>A	p.D163E	Missense	5/14	-	1
15-72645491-T-C	c.488A>G	p.D163G	Missense	5/14	-	2
15-72645497-A-G	c.482T>C	p.I161T	Missense	5/14	-	1
15-72645499-C-A	c.480G>T	p.E160D	Missense	5/14	-	1
15-72645499-C-G	c.480G>C	p.E160D	Missense	5/14	-	1
15-72645501-C-T	c.478G>A	p.E160K	Missense	5/14	-	2
15-72645506-T-G	c.473A>C	p.K158T	Missense	5/14	-	2
15-72645509-T-A	c.470A>T	p.N157I	Missense	5/14	-	1
15-72645512-A-G	c.467T>C	p.I156T	Missense	5/14	-	1
15-72645515-A-C	c.464T>G	p.F155C	Missense	5/14	-	2
15-72645513-TA-T	c.465del	p.F155Lfs*44	Frameshift	5/14	-	2
15-72645517-G-A	c.462C>T	p.F154=	Synonymous	5/14	-	2
15-72645520-C-A	c.460-1G>T	-	IntronicSNV	-	4/13	1
15-72645520-C-T	c.460-1G>A	-	IntronicSNV	-	4/13	1
15-72645521-T-C	c.460-2A>G	-	IntronicSNV	-	4/13	1
15-72646027-C-T	c.459+5G>A	-	IntronicSNV	-	4/13	13
15-72646028-T-G	c.459+4A>C	-	IntronicSNV	-	4/13	2
15-72646029-T-TA	c.459+2dup	-	SpliceDonorInsertion	-	4/13	1
15-72646031-C-T	c.459+1G>A	-	IntronicSNV	-	4/13	1
15-72646034-GT-G	c.457del	p.T153Hfs*46	Frameshift	4/14	-	1
15-72646034-T-A	c.457A>T	p.T153S	Missense	4/14	-	1
15-72646036-C-A	c.455G>T	p.G152V	Missense	4/14	-	1
15-72646043-C-G	c.448G>C	p.A150P	Missense	4/14	-	1
15-72646045-G-A	c.446C>T	p.S149F	Missense	4/14	-	3
15-72646045-GA-TT	c.445_446delinsAA	p.S149N	Missense	4/14	-	1
15-72646055-AC-A	c.436del	p.V146Ffs*53	Frameshift	4/14	-	2
15-72646058-G-A	c.433C>T	p.L145F	Missense	4/14	-	1
15-72646061-G-A	c.430C>T	p.Q144*	Nonsense	4/14	-	1
15-72646062-G-A	c.429C>T	p.S143=	Synonymous	4/14	-	2
15-72646063-C-A	c.428G>T	p.S143I	Missense	4/14	-	4
15-72646064-TAA-T	c.425_426del	p.F142*	Frameshift	4/14	-	1
15-72646066-A-AATT	c.424_425insAAT	p.T141_F142ins*	InFrameInsertion	4/14	-	1
15-72646064-TA-T	c.426del	p.F142Lfs*57	Frameshift	4/14	-	2
15-72646068-A-G	c.423T>C	p.T141=	Synonymous	4/14	-	1
15-72646069-G-A	c.422C>T	p.T141I	Missense	4/14	-	1
15-72646073-C-A	c.418G>T	p.E140*	Nonsense	4/14	-	1
15-72646073-C-G	c.418G>C	p.E140Q	Missense	4/14	-	2
15-72646073-C-T	c.418G>A	p.E140K	Missense	4/14	-	1
15-72646075-A-G	c.416T>C	p.L139P	Missense	4/14	-	1
15-72646075-A-T	c.416T>A	p.L139Q	Missense	4/14	-	1
15-72647780-T-C	c.412+120A>G	-	IntronicSNV	-	3/13	1
15-72647900-C-T	c.412G>A	p.G138S	Missense	3/14	-	1
15-72647902-C-T	c.410G>A	p.R137Q	Missense	3/14	-	3
15-72647903-G-A	c.409C>T	p.R137*	Nonsense	3/14	-	11
15-72647903-G-C	c.409C>G	p.R137G	Missense	3/14	-	2
15-72647916-GAC-CAT	c.394_396delinsATG	p.V132M	Missense	3/14	-	1
15-72647917-A-C	c.395T>G	p.V132G	Missense	3/14	-	1
15-72647919-AG-CT	c.392_393inv	p.T131K	Missense	3/14	-	1
15-72647924-C-G	c.388G>C	p.E130Q	Missense	3/14	-	2
15-72647926-AGAG-A	c.384_386del	p.S129del	InFrameDeletion	3/14	-	1
15-72647926-G-A	c.386C>T	p.S129F	Missense	3/14	-	1
15-72647926-G-C	c.386C>G	p.S129C	Missense	3/14	-	1
15-72647927-A-G	c.385T>C	p.S129P	Missense	3/14	-	1
15-72647932-A-C	c.380T>G	p.L127R	Missense	3/14	-	6
15-72647932-A-G	c.380T>C	p.L127P	Missense	3/14	-	1
15-72647933-G-A	c.379C>T	p.L127F	Missense	3/14	-	3
15-72647935-A-G	c.377T>C	p.L126S	Missense	3/14	-	3
15-72647934-T-C	c.378A>G	p.L126=	Synonymous	3/14	-	1
15-72647936-A-C	c.376T>G	p.L126V	Missense	3/14	-	1
15-72647936-A-G	c.376T>C	p.L126=	Synonymous	3/14	-	1
15-72647936-A-T	c.376T>A	p.L126I	Missense	3/14	-	3
15-72647938-CA-GT	c.373_374delinsAC	p.C125T	Missense	3/14	-	1
15-72647938-C-G	c.374G>C	p.C125S	Missense	3/14	-	1
15-72647939-A-C	c.373T>G	p.C125G	Missense	3/14	-	1
15-72647943-G-C	c.369C>G	p.D123E	Missense	3/14	-	1
15-72647944-T-C	c.368A>G	p.D123G	Missense	3/14	-	1
15-72647945-C-T	c.367G>A	p.D123N	Missense	3/14	-	1
15-72647948-C-T	c.364G>A	p.D122N	Missense	3/14	-	1
15-72647949-A-C	c.363T>G	p.N121K	Missense	3/14	-	1
15-72647949-A-T	c.363T>A	p.N121K	Missense	3/14	-	1
15-72647949-AT-A	c.362del	p.N121Mfs*78	Frameshift	3/14	-	1
15-72647954-ATGGTCAGGGTATCTGAAATGACAGAAATGAACTCATTTAGTTGGTTAAGGTTTTCTATT-A	c.347-47_358del	-	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	3/14	2/13	1
15-72647962-G-A	c.350C>T	p.T117I	Missense	3/14	-	2
15-72647965-T-A	c.347A>T	p.Y116F	Missense	3/14	-	1
15-72648034-T-G	c.347-69A>C	-	IntronicSNV	-	2/13	1
15-72648157-G-A	c.347-192C>T	-	IntronicSNV	-	2/13	1
15-72648853-G-A	c.346+13C>T	-	IntronicSNV	-	2/13	1
15-72648865-C-A	c.346+1G>T	-	IntronicSNV	-	2/13	1
15-72648865-C-G	c.346+1G>C	-	IntronicSNV	-	2/13	1
15-72648865-C-T	c.346+1G>A	-	IntronicSNV	-	2/13	2
15-72648869-T-C	c.343A>G	p.N115D	Missense	2/14	-	1
15-72648872-C-G	c.340G>C	p.E114Q	Missense	2/14	-	2
15-72648872-C-T	c.340G>A	p.E114K	Missense	2/14	-	7
15-72648875-ACT-A	c.336_337del	p.V113Gfs*9	Frameshift	2/14	-	1
15-72648875-C-T	c.337G>A	p.V113M	Missense	2/14	-	1
15-72648877-G-A	c.335C>T	p.S112L	Missense	2/14	-	1
15-72648877-GA-AT	c.334_335delinsAT	p.S112I	Missense	2/14	-	1
15-72648878-A-G	c.334T>C	p.S112P	Missense	2/14	-	1
15-72648886-G-A	c.326C>T	p.T109I	Missense	2/14	-	1
15-72648886-G-C	c.326C>G	p.T109S	Missense	2/14	-	1
15-72648887-T-A	c.325A>T	p.T109S	Missense	2/14	-	1
15-72648886-G-GT	c.325dup	p.T109Nfs*14	Frameshift	2/14	-	1
15-72648890-G-A	c.322C>T	p.P108S	Missense	2/14	-	3
15-72648892-A-C	c.320T>G	p.L107R	Missense	2/14	-	1
15-72648894-C-G	c.318G>C	p.Q106H	Missense	2/14	-	1
15-72648894-CTG-ACA	c.316_318delinsTGT	p.Q106C	Missense	2/14	-	1
15-72648896-G-A	c.316C>T	p.Q106*	Nonsense	2/14	-	2
15-72648900-A-G	c.312T>C	p.C104=	Synonymous	2/14	-	1
15-72648901-CA-GT	c.310_311delinsAC	p.C104T	Missense	2/14	-	1
15-72648904-CC-GT	c.307_308delinsAC	p.G103T	Missense	2/14	-	1
15-72648908-G-A	c.304C>T	p.P102S	Missense	2/14	-	3
15-72648912-G-A	c.300C>T	p.V100=	Synonymous	2/14	-	1
15-72648913-A-G	c.299T>C	p.V100A	Missense	2/14	-	1
15-72648917-C-T	c.295G>A	p.V99I	Missense	2/14	-	1
15-72648926-C-T	c.286G>A	p.V96I	Missense	2/14	-	2
15-72648934-T-C	c.278A>G	p.N93S	Missense	2/14	-	1
15-72648940-T-C	c.272A>G	p.E91G	Missense	2/14	-	1
15-72648941-C-G	c.271G>C	p.E91Q	Missense	2/14	-	1
15-72648943-A-G	c.269T>C	p.L90P	Missense	2/14	-	1
15-72648946-G-A	c.266C>T	p.T89I	Missense	2/14	-	1
15-72648952-C-A	c.260G>T	p.R87L	Missense	2/14	-	1
15-72648952-C-T	c.260G>A	p.R87Q	Missense	2/14	-	5
15-72648953-G-A	c.259C>T	p.R87W	Missense	2/14	-	5
15-72648958-C-G	c.254G>C	p.G85A	Missense	2/14	-	1
15-72648959-C-T	c.254-1G>A	-	IntronicSNV	-	1/13	1
15-72648976-G-A	c.254-18C>T	-	IntronicSNV	-	1/13	1
15-72656642-A-G	c.254-7684T>C	-	IntronicSNV	-	1/13	1
15-72656650-A-G	c.254-7692T>C	-	IntronicSNV	-	1/13	1
15-72656722-A-G	c.254-7764T>C	-	IntronicSNV	-	1/13	1
15-72656774-T-C	c.254-7816A>G	-	IntronicSNV	-	1/13	1
15-72656783-C-T	c.254-7825G>A	-	IntronicSNV	-	1/13	1
15-72656793-C-T	c.254-7835G>A	-	IntronicSNV	-	1/13	1
15-72656832-A-C	c.254-7874T>G	-	IntronicSNV	-	1/13	1
15-72656832-A-T	c.254-7874T>A	-	IntronicSNV	-	1/13	1
15-72659279-GT-G	c.253+8781del	-	IntronicDeletion	-	1/13	1
15-72659321-G-T	c.253+8740C>A	-	IntronicSNV	-	1/13	1
15-72659323-T-C	c.253+8738A>G	-	IntronicSNV	-	1/13	1
15-72659339-C-A	c.253+8722G>T	-	IntronicSNV	-	1/13	1
15-72659349-C-A	c.253+8712G>T	-	IntronicSNV	-	1/13	1
15-72659370-C-T	c.253+8691G>A	-	IntronicSNV	-	1/13	1
15-72659371-A-G	c.253+8690T>C	-	IntronicSNV	-	1/13	1
15-72659374-T-C	c.253+8687A>G	-	IntronicSNV	-	1/13	1
15-72659375-C-T	c.253+8686G>A	-	IntronicSNV	-	1/13	1
15-72659380-A-G	c.253+8681T>C	-	IntronicSNV	-	1/13	1
15-72659394-G-A	c.253+8667C>T	-	IntronicSNV	-	1/13	1
15-72659394-G-C	c.253+8667C>G	-	IntronicSNV	-	1/13	1
15-72659407-C-T	c.253+8654G>A	-	IntronicSNV	-	1/13	1
15-72659408-C-T	c.253+8653G>A	-	IntronicSNV	-	1/13	1
15-72659409-A-C	c.253+8652T>G	-	IntronicSNV	-	1/13	1
15-72659410-G-A	c.253+8651C>T	-	IntronicSNV	-	1/13	1
15-72659416-C-T	c.253+8645G>A	-	IntronicSNV	-	1/13	1
15-72662954-C-T	c.253+5107G>A	-	IntronicSNV	-	1/13	1
15-72662987-G-A	c.253+5074C>T	-	IntronicSNV	-	1/13	1
15-72663038-T-TAA	c.253+5021_253+5022dup	-	IntronicInsertion	-	1/13	1
15-72663038-T-TA	c.253+5022dup	-	IntronicInsertion	-	1/13	1
15-72663038-T-TAAAAAAAAAAAAAAG	c.253+5022_253+5023insCTTTTTTTTTTTTTT	-	IntronicInsertion	-	1/13	1
15-72663038-T-TAAAAAAAAAAAAAG	c.253+5022_253+5023insCTTTTTTTTTTTTT	-	IntronicInsertion	-	1/13	1
15-72663038-T-TAAAAAAAAAAAAG	c.253+5022_253+5023insCTTTTTTTTTTTT	-	IntronicInsertion	-	1/13	1
15-72663038-T-TAAAAAAAAAAAAGA	c.253+5022_253+5023insTCTTTTTTTTTTTT	-	IntronicInsertion	-	1/13	1
15-72663038-T-TAAAAAAAAAAAAGAA	c.253+5022_253+5023insTTCTTTTTTTTTTTT	-	IntronicInsertion	-	1/13	1
15-72663038-T-TAAAAAAAAAAAAGAAAAAAAAAAAAAAAG	c.253+5022_253+5023insCTTTTTTTTTTTTTTTCTTTTTTTTTTTT	-	IntronicInsertion	-	1/13	1
15-72663038-T-TAAAAAAAAAAAAGAAAAAAAAAAAG	c.253+5022_253+5023insCTTTTTTTTTTTCTTTTTTTTTTTT	-	IntronicInsertion	-	1/13	1
15-72663038-T-TAAAAAAAAAAATAG	c.253+5022_253+5023insCTATTTTTTTTTTT	-	IntronicInsertion	-	1/13	1
15-72663059-G-A	c.253+5002C>T	-	IntronicSNV	-	1/13	1
15-72663946-A-G	c.253+4115T>C	-	IntronicSNV	-	1/13	2
15-72668053-CGACTCACCTGTGAGGTAAGGACGG-C	c.237_253+7del	-	SpliceDonorDeletion	1/14	1/13	2
15-72668060-C-T	c.253+1G>A	-	IntronicSNV	-	1/13	3
15-72668061-C-A	c.253G>T	p.G85W	Missense	1/14	-	1
15-72668061-C-G	c.253G>C	p.G85R	Missense	1/14	-	1
15-72668061-C-T	c.253G>A	p.G85R	Missense	1/14	-	2
15-72668066-A-G	c.248T>C	p.L83P	Missense	1/14	-	1
15-72668066-A-T	c.248T>A	p.L83H	Missense	1/14	-	2
15-72668071-A-C	c.243T>G	p.P81=	Synonymous	1/14	-	1
15-72668076-G-A	c.238C>T	p.R80C	Missense	1/14	-	5
15-72668079-GGC-G	c.234_235del	p.W78Cfs*27	Frameshift	1/14	-	1
15-72668080-C-T	c.234G>A	p.W78*	Nonsense	1/14	-	1
15-72668081-C-G	c.233G>C	p.W78S	Missense	1/14	-	1
15-72668081-C-T	c.233G>A	p.W78*	Nonsense	1/14	-	4
15-72668087-C-G	c.227G>C	p.G76A	Missense	1/14	-	1
15-72668087-C-T	c.227G>A	p.G76E	Missense	1/14	-	1
15-72668088-C-G	c.226G>C	p.G76R	Missense	1/14	-	1
15-72668095-G-A	c.219C>T	p.F73=	Synonymous	1/14	-	1
15-72668096-A-G	c.218T>C	p.F73S	Missense	1/14	-	1
15-72668097-A-T	c.217T>A	p.F73I	Missense	1/14	-	1
15-72668100-G-A	c.214C>T	p.L72F	Missense	1/14	-	1
15-72668100-G-C	c.214C>G	p.L72V	Missense	1/14	-	1
15-72668103-G-C	c.211C>G	p.L71V	Missense	1/14	-	1
15-72668104-G-C	c.210C>G	p.D70E	Missense	1/14	-	1
15-72668104-G-T	c.210C>A	p.D70E	Missense	1/14	-	1
15-72668105-T-A	c.209A>T	p.D70V	Missense	1/14	-	1
15-72668106-C-T	c.208G>A	p.D70N	Missense	1/14	-	2
15-72668108-C-T	c.206G>A	p.R69H	Missense	1/14	-	3
15-72668112-A-C	c.202T>G	p.Y68D	Missense	1/14	-	2
15-72668112-A-G	c.202T>C	p.Y68H	Missense	1/14	-	2
15-72668114-C-A	c.200G>T	p.R67L	Missense	1/14	-	1
15-72668114-C-T	c.200G>A	p.R67H	Missense	1/14	-	3
15-72668115-G-A	c.199C>T	p.R67C	Missense	1/14	-	2
15-72668116-C-T	c.198G>A	p.Q66=	Synonymous	1/14	-	1
15-72668117-T-A	c.197A>T	p.Q66L	Missense	1/14	-	1
15-72668118-G-A	c.196C>T	p.Q66*	Nonsense	1/14	-	1
15-72668118-G-C	c.196C>G	p.Q66E	Missense	1/14	-	1
15-72668121-A-T	c.193T>A	p.F65I	Missense	1/14	-	1
15-72668122-G-A	c.192C>T	p.A64=	Synonymous	1/14	-	2
15-72668120-AAGGCCTCGTCG-A	c.183_193del	p.D62Pfs*5	Frameshift	1/14	-	2
15-72668125-CTC-ACA	c.187_189delinsTGT	p.E63C	Missense	1/14	-	1
15-72668127-C-A	c.187G>T	p.E63*	Nonsense	1/14	-	2
15-72668130-C-T	c.184G>A	p.D62N	Missense	1/14	-	1
15-72668131-G-A	c.183C>T	p.L61=	Synonymous	1/14	-	1
15-72668131-G-C	c.183C>G	p.L61=	Synonymous	1/14	-	1
15-72668131-G-T	c.183C>A	p.L61=	Synonymous	1/14	-	3
15-72668134-G-A	c.180C>T	p.V60=	Synonymous	1/14	-	2
15-72668136-C-T	c.178G>A	p.V60I	Missense	1/14	-	2
15-72668138-G-A	c.176C>T	p.S59L	Missense	1/14	-	1
15-72668139-A-C	c.175T>G	p.S59A	Missense	1/14	-	1
15-72668141-C-A	c.173G>T	p.C58F	Missense	1/14	-	1
15-72668141-C-T	c.173G>A	p.C58Y	Missense	1/14	-	4
15-72668144-C-A	c.170G>T	p.G57V	Missense	1/14	-	1
15-72668144-C-G	c.170G>C	p.G57A	Missense	1/14	-	1
15-72668144-C-T	c.170G>A	p.G57D	Missense	1/14	-	2
15-72668145-C-G	c.169G>C	p.G57R	Missense	1/14	-	2
15-72668147-G-C	c.167C>G	p.P56R	Missense	1/14	-	1
15-72668149-C-G	c.165G>C	p.Q55H	Missense	1/14	-	1
15-72668149-C-T	c.165G>A	p.Q55=	Synonymous	1/14	-	1
15-72668152-C-T	c.162G>A	p.A54=	Synonymous	1/14	-	1
15-72668154-C-A	c.160G>T	p.A54S	Missense	1/14	-	1
15-72668157-C-T	c.157G>A	p.A53T	Missense	1/14	-	4
15-72668159-G-A	c.155C>T	p.S52L	Missense	1/14	-	3
15-72668159-G-T	c.155C>A	p.S52*	Nonsense	1/14	-	7
15-72668162-C-G	c.152G>C	p.S51T	Missense	1/14	-	3
15-72668162-C-T	c.152G>A	p.S51N	Missense	1/14	-	1
15-72668164-GAC-CAT	c.148_150delinsATG	p.V50M	Missense	1/14	-	1
15-72668165-A-C	c.149T>G	p.V50G	Missense	1/14	-	1
15-72668165-A-G	c.149T>C	p.V50A	Missense	1/14	-	2
15-72668166-C-A	c.148G>T	p.V50F	Missense	1/14	-	1
15-72668166-C-G	c.148G>C	p.V50L	Missense	1/14	-	2
15-72668171-T-C	c.143A>G	p.Y48C	Missense	1/14	-	1
15-72668173-C-A	c.141G>T	p.Q47H	Missense	1/14	-	1
15-72668173-C-G	c.141G>C	p.Q47H	Missense	1/14	-	1
15-72668174-T-C	c.140A>G	p.Q47R	Missense	1/14	-	1
15-72668175-G-A	c.139C>T	p.Q47*	Nonsense	1/14	-	3
15-72668180-T-G	c.134A>C	p.Q45P	Missense	1/14	-	1
15-72668185-G-A	c.129C>T	p.N43=	Synonymous	1/14	-	1
15-72668188-G-A	c.126C>T	p.N42=	Synonymous	1/14	-	1
15-72668190-T-C	c.124A>G	p.N42D	Missense	1/14	-	1
15-72668192-G-A	c.122C>T	p.P41L	Missense	1/14	-	1
15-72668193-G-C	c.121C>G	p.P41A	Missense	1/14	-	2
15-72668195-TA-T	c.118del	p.Y40Tfs*60	Frameshift	1/14	-	1
15-72668198-A-C	c.116T>G	p.L39R	Missense	1/14	-	5
15-72668199-G-C	c.115C>G	p.L39V	Missense	1/14	-	1
15-72668204-T-C	c.110A>G	p.Y37C	Missense	1/14	-	2
15-72668205-A-T	c.109T>A	p.Y37N	Missense	1/14	-	4
15-72668206-G-A	c.108C>T	p.R36=	Synonymous	1/14	-	1
15-72668208-G-A	c.106C>T	p.R36C	Missense	1/14	-	1
15-72668213-T-C	c.101A>G	p.D34G	Missense	1/14	-	1
15-72668214-C-T	c.100G>A	p.D34N	Missense	1/14	-	1
15-72668215-G-A	c.99C>T	p.S33=	Synonymous	1/14	-	1
15-72668218-G-A	c.96C>T	p.T32=	Synonymous	1/14	-	2
15-72668219-G-A	c.95C>T	p.T32I	Missense	1/14	-	1
15-72668221-T-A	c.93A>T	p.Q31H	Missense	1/14	-	2
15-72668221-T-G	c.93A>C	p.Q31H	Missense	1/14	-	1
15-72668223-G-A	c.91C>T	p.Q31*	Nonsense	1/14	-	1
15-72668224-G-C	c.90C>G	p.F30L	Missense	1/14	-	1
15-72668229-T-C	c.85A>G	p.N29D	Missense	1/14	-	1
15-72668232-G-A	c.82C>T	p.Q28*	Nonsense	1/14	-	2
15-72668234-G-A	c.80C>T	p.P27L	Missense	1/14	-	1
15-72668235-G-A	c.79C>T	p.P27S	Missense	1/14	-	1
15-72668236-C-T	c.78G>A	p.W26*	Nonsense	1/14	-	8
15-72668237-C-T	c.77G>A	p.W26*	Nonsense	1/14	-	4
15-72668240-G-C	c.74C>G	p.P25R	Missense	1/14	-	1
15-72668240-G-T	c.74C>A	p.P25H	Missense	1/14	-	1
15-72668241-G-A	c.73C>T	p.P25S	Missense	1/14	-	3
15-72668242-C-T	c.72G>A	p.W24*	Nonsense	1/14	-	6
15-72668243-C-G	c.71G>C	p.W24S	Missense	1/14	-	1
15-72668243-C-T	c.71G>A	p.W24*	Nonsense	1/14	-	1
15-72668244-A-T	c.70T>A	p.W24R	Missense	1/14	-	1
15-72668245-G-A	c.69C>T	p.L23=	Synonymous	1/14	-	1
15-72668245-G-C	c.69C>G	p.L23=	Synonymous	1/14	-	1
15-72668245-G-T	c.69C>A	p.L23=	Synonymous	1/14	-	1
15-72668246-A-G	c.68T>C	p.L23P	Missense	1/14	-	1
15-72668248-G-C	c.66C>G	p.A22=	Synonymous	1/14	-	1
15-72668249-G-A	c.65C>T	p.A22V	Missense	1/14	-	1
15-72668249-GC-AG	c.64_65delinsCT	p.A22L	Missense	1/14	-	1
15-72668250-C-G	c.64G>C	p.A22P	Missense	1/14	-	1
15-72668250-C-T	c.64G>A	p.A22T	Missense	1/14	-	1
15-72668254-CG-GT	c.59_60delinsAC	p.A20D	Missense	1/14	-	3
15-72668258-C-T	c.56G>A	p.R19Q	Missense	1/14	-	1
15-72668261-C-T	c.53G>A	p.G18E	Missense	1/14	-	1
15-72668262-C-G	c.52G>C	p.G18R	Missense	1/14	-	3
15-72668262-C-T	c.52G>A	p.G18R	Missense	1/14	-	1
15-72668263-CT-C	c.51del	p.G18Dfs*82	Frameshift	1/14	-	1
15-72668263-T-G	c.51A>C	p.A17=	Synonymous	1/14	-	2
15-72668263-TGC-ACA	c.49_51delinsTGT	p.A17C	Missense	1/14	-	1
15-72668263-TGC-ATA	c.49_51delinsTAT	p.A17Y	Missense	1/14	-	1
15-72668263-TGC-GTT	c.49_51delinsAAC	p.A17N	Missense	1/14	-	1
15-72668264-G-A	c.50C>T	p.A17V	Missense	1/14	-	1
15-72668264-GC-TG	c.49_50delinsCA	p.A17Q	Missense	1/14	-	2
15-72668265-C-A	c.49G>T	p.A17S	Missense	1/14	-	1
15-72668265-C-T	c.49G>A	p.A17T	Missense	1/14	-	2
15-72668266-G-A	c.48C>T	p.F16=	Synonymous	1/14	-	1
15-72668269-C-A	c.45G>T	p.A15=	Synonymous	1/14	-	1
15-72668269-C-G	c.45G>C	p.A15=	Synonymous	1/14	-	1
15-72668269-CG-GT	c.44_45delinsAC	p.A15D	Missense	1/14	-	1
15-72668269-C-T	c.45G>A	p.A15=	Synonymous	1/14	-	1
15-72668270-GC-TA	c.43_44delinsTA	p.A15*	Nonsense	1/14	-	1
15-72668272-T-A	c.42A>T	p.A14=	Synonymous	1/14	-	2
15-72668272-T-C	c.42A>G	p.A14=	Synonymous	1/14	-	2
15-72668272-T-G	c.42A>C	p.A14=	Synonymous	1/14	-	2
15-72668272-TGC-CCA	c.40_42delinsTGG	p.A14W	Missense	1/14	-	2
15-72668272-TGC-GTT	c.40_42delinsAAC	p.A14N	Missense	1/14	-	1
15-72668273-G-C	c.41C>G	p.A14G	Missense	1/14	-	1
15-72668274-C-G	c.40G>C	p.A14P	Missense	1/14	-	2
15-72668275-CGC-AAA	c.37_39delinsTTT	p.A13F	Missense	1/14	-	2
15-72668275-CGC-ATA	c.37_39delinsTAT	p.A13Y	Missense	1/14	-	1
15-72668275-CG-GT	c.38_39delinsAC	p.A13D	Missense	1/14	-	1
15-72668276-G-A	c.38C>T	p.A13V	Missense	1/14	-	1
15-72668277-C-G	c.37G>C	p.A13P	Missense	1/14	-	1
15-72668282-A-G	c.32T>C	p.L11P	Missense	1/14	-	3
15-72668286-G-GC	c.27dup	p.L10Afs*61	Frameshift	1/14	-	1
15-72668287-C-G	c.27G>C	p.S9=	Synonymous	1/14	-	1
15-72668288-G-T	c.26C>A	p.S9*	Nonsense	1/14	-	1
15-72668288-GAA-G	c.24_25del	p.S9Afs*61	Frameshift	1/14	-	1
15-72668292-A-G	c.22T>C	p.F8L	Missense	1/14	-	1
15-72668293-C-A	c.21G>T	p.W7C	Missense	1/14	-	2
15-72668293-C-G	c.21G>C	p.W7C	Missense	1/14	-	2
15-72668293-C-T	c.21G>A	p.W7*	Nonsense	1/14	-	1
15-72668294-C-T	c.20G>A	p.W7*	Nonsense	1/14	-	1
15-72668295-A-T	c.19T>A	p.W7R	Missense	1/14	-	1
15-72668297-A-C	c.17T>G	p.L6R	Missense	1/14	-	1
15-72668303-G-A	c.11C>T	p.S4F	Missense	1/14	-	1
15-72668304-A-G	c.10T>C	p.S4P	Missense	1/14	-	1
15-72668305-G-A	c.9C>T	p.S3=	Synonymous	1/14	-	9
15-72668306-C-A	c.8G>T	p.S3I	Missense	1/14	-	2
15-72668306-C-G	c.8G>C	p.S3T	Missense	1/14	-	6
15-72668306-C-T	c.8G>A	p.S3N	Missense	1/14	-	2
15-72668308-T-C	c.6A>G	p.T2=	Synonymous	1/14	-	1
15-72668309-G-T	c.5C>A	p.T2K	Missense	1/14	-	1
15-72668311-C-T	c.3G>A	p.M1?	Missense	1/14	-	1
15-72668312-A-G	c.2T>C	p.M1?	Missense	1/14	-	7
15-72668313-T-A	c.1A>T	p.M1?	Missense	1/14	-	4
15-72668313-T-C	c.1A>G	p.M1?	Missense	1/14	-	8
15-72668313-T-G	c.1A>C	p.M1?	Missense	1/14	-	6