FDXR

FDXR ferredoxin reductase

Annotation transcript: NM_024417.5

1156 unique variant annotations were identified in 542 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
17-72858800-G-T	c.*139C>A	-	3-UTRSNV	12/12	-	1
17-72858944-G-A	c.1471C>T	p.H491Y	Missense	12/12	-	5
17-72858946-C-T	c.1469G>A	p.G490D	Missense	12/12	-	1
17-72858953-G-A	c.1462C>T	p.L488F	Missense	12/12	-	1
17-72858954-G-C	c.1461C>G	p.R487=	Synonymous	12/12	-	2
17-72858955-C-T	c.1460G>A	p.R487H	Missense	12/12	-	1
17-72858956-G-A	c.1459C>T	p.R487C	Missense	12/12	-	6
17-72858956-G-T	c.1459C>A	p.R487S	Missense	12/12	-	3
17-72858958-A-G	c.1457T>C	p.L486P	Missense	12/12	-	1
17-72858965-C-T	c.1450G>A	p.E484K	Missense	12/12	-	6
17-72858968-G-C	c.1447C>G	p.Q483E	Missense	12/12	-	2
17-72858969-A-C	c.1446T>G	p.P482=	Synonymous	12/12	-	2
17-72858969-A-G	c.1446T>C	p.P482=	Synonymous	12/12	-	2
17-72858969-A-T	c.1446T>A	p.P482=	Synonymous	12/12	-	1
17-72858971-G-A	c.1444C>T	p.P482S	Missense	12/12	-	1
17-72858978-C-T	c.1437G>A	p.L479=	Synonymous	12/12	-	1
17-72858980-G-GC	c.1434dup	p.L479Afs*38	Frameshift	12/12	-	1
17-72858981-C-T	c.1434G>A	p.K478=	Synonymous	12/12	-	1
17-72858983-T-C	c.1432A>G	p.K478E	Missense	12/12	-	1
17-72858986-C-T	c.1429G>A	p.E477K	Missense	12/12	-	5
17-72858988-CT-GC	c.1426_1427delinsGC	p.R476A	Missense	12/12	-	1
17-72858990-G-T	c.1425C>A	p.P475=	Synonymous	12/12	-	1
17-72858992-G-A	c.1423C>T	p.P475S	Missense	12/12	-	2
17-72858996-C-A	c.1419G>T	p.G473=	Synonymous	12/12	-	2
17-72858996-C-G	c.1419G>C	p.G473=	Synonymous	12/12	-	2
17-72858996-C-T	c.1419G>A	p.G473=	Synonymous	12/12	-	3
17-72858999-C-A	c.1416G>T	p.T472=	Synonymous	12/12	-	1
17-72858999-C-G	c.1416G>C	p.T472=	Synonymous	12/12	-	2
17-72858999-C-T	c.1416G>A	p.T472=	Synonymous	12/12	-	2
17-72859000-G-A	c.1415C>T	p.T472M	Missense	12/12	-	2
17-72859000-G-C	c.1415C>G	p.T472R	Missense	12/12	-	1
17-72859000-G-T	c.1415C>A	p.T472K	Missense	12/12	-	2
17-72859001-T-C	c.1414A>G	p.T472A	Missense	12/12	-	10
17-72859002-GC-CT	c.1412_1413delinsAG	p.G471E	Missense	12/12	-	1
17-72859003-C-T	c.1412G>A	p.G471D	Missense	12/12	-	1
17-72859006-T-G	c.1409A>C	p.Q470P	Missense	12/12	-	1
17-72859008-G-A	c.1407C>T	p.G469=	Synonymous	12/12	-	1
17-72859011-CC-AT	c.1403_1404delinsAT	p.R468H	Missense	12/12	-	1
17-72859012-C-T	c.1403G>A	p.R468Q	Missense	12/12	-	1
17-72859013-G-A	c.1402C>T	p.R468W	Missense	12/12	-	1
17-72859016-C-T	c.1399G>A	p.A467T	Missense	12/12	-	1
17-72859019-C-A	c.1396G>T	p.V466L	Missense	12/12	-	1
17-72859019-C-G	c.1396G>C	p.V466L	Missense	12/12	-	2
17-72859022-C-A	c.1393G>T	p.E465*	Nonsense	12/12	-	1
17-72859025-C-T	c.1390G>A	p.E464K	Missense	12/12	-	3
17-72859026-G-A	c.1389C>T	p.A463=	Synonymous	12/12	-	5
17-72859026-G-C	c.1389C>G	p.A463=	Synonymous	12/12	-	2
17-72859026-G-T	c.1389C>A	p.A463=	Synonymous	12/12	-	1
17-72859027-G-A	c.1388C>T	p.A463V	Missense	12/12	-	1
17-72859027-GC-CA	c.1387_1388delinsTG	p.A463C	Missense	12/12	-	1
17-72859028-C-T	c.1387G>A	p.A463T	Missense	12/12	-	1
17-72859030-T-A	c.1385A>T	p.D462V	Missense	12/12	-	1
17-72859031-C-T	c.1384G>A	p.D462N	Missense	12/12	-	2
17-72859034-G-A	c.1381C>T	p.L461=	Synonymous	12/12	-	1
17-72859039-T-C	c.1376A>G	p.E459G	Missense	12/12	-	1
17-72859043-A-G	c.1372T>C	p.W458R	Missense	12/12	-	1
17-72859044-G-C	c.1371C>G	p.D457E	Missense	12/12	-	1
17-72859054-G-A	c.1361C>T	p.S454F	Missense	12/12	-	2
17-72859058-C-A	c.1357G>T	p.V453F	Missense	12/12	-	1
17-72859058-C-T	c.1357G>A	p.V453I	Missense	12/12	-	1
17-72859060-G-A	c.1355C>T	p.P452L	Missense	12/12	-	2
17-72859060-G-T	c.1355C>A	p.P452Q	Missense	12/12	-	1
17-72859063-C-T	c.1352G>A	p.R451Q	Missense	12/12	-	4
17-72859064-G-A	c.1351C>T	p.R451W	Missense	12/12	-	2
17-72859066-A-G	c.1349T>C	p.V450A	Missense	12/12	-	1
17-72859067-C-T	c.1348G>A	p.V450I	Missense	12/12	-	1
17-72859078-A-G	c.1346-9T>C	-	IntronicSNV	-	11/11	5
17-72859197-C-A	c.1345+1G>T	-	IntronicSNV	-	11/11	1
17-72859199-TC-AT	c.1343_1344delinsAT	p.R448H	Missense	11/12	-	2
17-72859200-C-T	c.1343G>A	p.R448Q	Missense	11/12	-	2
17-72859202-G-A	c.1341C>T	p.S447=	Synonymous	11/12	-	1
17-72859202-GCT-TCA	c.1339_1341delinsTGA	p.S447*	Nonsense	11/12	-	1
17-72859204-T-G	c.1339A>C	p.S447R	Missense	11/12	-	1
17-72859206-CT-AA	c.1336_1337delinsTT	p.S446F	Missense	11/12	-	1
17-72859208-G-A	c.1335C>T	p.L445=	Synonymous	11/12	-	1
17-72859208-G-C	c.1335C>G	p.L445=	Synonymous	11/12	-	1
17-72859208-G-T	c.1335C>A	p.L445=	Synonymous	11/12	-	1
17-72859212-A-C	c.1331T>G	p.L444R	Missense	11/12	-	4
17-72859212-AG-A	c.1330del	p.L444Cfs*80	Frameshift	11/12	-	1
17-72859215-G-A	c.1328C>T	p.A443V	Missense	11/12	-	2
17-72859215-G-T	c.1328C>A	p.A443D	Missense	11/12	-	2
17-72859216-C-A	c.1327G>T	p.A443S	Missense	11/12	-	1
17-72859216-C-T	c.1327G>A	p.A443T	Missense	11/12	-	2
17-72859219-G-A	c.1324C>T	p.Q442*	Nonsense	11/12	-	1
17-72859220-G-A	c.1323C>T	p.I441=	Synonymous	11/12	-	1
17-72859220-G-T	c.1323C>A	p.I441=	Synonymous	11/12	-	1
17-72859223-G-A	c.1320C>T	p.A440=	Synonymous	11/12	-	1
17-72859223-G-C	c.1320C>G	p.A440=	Synonymous	11/12	-	1
17-72859223-G-T	c.1320C>A	p.A440=	Synonymous	11/12	-	1
17-72859224-G-A	c.1319C>T	p.A440V	Missense	11/12	-	1
17-72859227-G-A	c.1316C>T	p.A439V	Missense	11/12	-	1
17-72859228-C-A	c.1315G>T	p.A439S	Missense	11/12	-	1
17-72859228-C-T	c.1315G>A	p.A439T	Missense	11/12	-	1
17-72859234-C-A	c.1309G>T	p.G437C	Missense	11/12	-	1
17-72859234-C-T	c.1309G>A	p.G437S	Missense	11/12	-	1
17-72859238-CCT-ACA	c.1303_1305delinsTGT	p.R435C	Missense	11/12	-	3
17-72859244-G-A	c.1299C>T	p.G433=	Synonymous	11/12	-	1
17-72859244-G-C	c.1299C>G	p.G433=	Synonymous	11/12	-	1
17-72859244-G-T	c.1299C>A	p.G433=	Synonymous	11/12	-	1
17-72859245-CC-AA	c.1297_1298delinsTT	p.G433F	Missense	11/12	-	1
17-72859246-C-A	c.1297G>T	p.G433C	Missense	11/12	-	1
17-72859248-G-C	c.1295C>G	p.S432C	Missense	11/12	-	1
17-72859250-G-T	c.1293C>A	p.P431=	Synonymous	11/12	-	1
17-72859251-G-A	c.1292C>T	p.P431L	Missense	11/12	-	4
17-72859252-G-A	c.1291C>T	p.P431S	Missense	11/12	-	2
17-72859253-G-A	c.1290C>T	p.L430=	Synonymous	11/12	-	1
17-72859253-G-C	c.1290C>G	p.L430=	Synonymous	11/12	-	1
17-72859253-G-T	c.1290C>A	p.L430=	Synonymous	11/12	-	1
17-72859260-CC-GT	c.1282_1283delinsAC	p.G428T	Missense	11/12	-	1
17-72859260-C-G	c.1283G>C	p.G428A	Missense	11/12	-	1
17-72859260-C-T	c.1283G>A	p.G428E	Missense	11/12	-	3
17-72859264-C-A	c.1279G>T	p.A427S	Missense	11/12	-	7
17-72859264-C-G	c.1279G>C	p.A427P	Missense	11/12	-	6
17-72859279-G-C	c.1264C>G	p.L422V	Missense	11/12	-	1
17-72859283-C-G	c.1260G>C	p.M420I	Missense	11/12	-	1
17-72859285-T-C	c.1258A>G	p.M420V	Missense	11/12	-	2
17-72859288-G-A	c.1255C>T	p.Q419*	Nonsense	11/12	-	5
17-72859288-G-T	c.1255C>A	p.Q419K	Missense	11/12	-	2
17-72859289-G-GT	c.1253_1254insA	p.Q419Pfs*98	Frameshift	11/12	-	1
17-72859291-C-T	c.1252G>A	p.G418S	Missense	11/12	-	4
17-72859292-G-A	c.1251C>T	p.T417=	Synonymous	11/12	-	2
17-72859292-G-C	c.1251C>G	p.T417=	Synonymous	11/12	-	2
17-72859292-G-T	c.1251C>A	p.T417=	Synonymous	11/12	-	2
17-72859295-G-A	c.1248C>T	p.L416=	Synonymous	11/12	-	1
17-72859296-A-C	c.1247T>G	p.L416R	Missense	11/12	-	1
17-72859302-CT-AA	c.1240_1241delinsTT	p.S414F	Missense	11/12	-	1
17-72859310-C-A	c.1233G>T	p.M411I	Missense	11/12	-	1
17-72859310-C-G	c.1233G>C	p.M411I	Missense	11/12	-	1
17-72859310-C-T	c.1233G>A	p.M411I	Missense	11/12	-	3
17-72859314-G-A	c.1229C>T	p.T410I	Missense	11/12	-	1
17-72859316-T-A	c.1227A>T	p.T409=	Synonymous	11/12	-	1
17-72859316-T-C	c.1227A>G	p.T409=	Synonymous	11/12	-	2
17-72859316-T-G	c.1227A>C	p.T409=	Synonymous	11/12	-	1
17-72859317-G-A	c.1226C>T	p.T409I	Missense	11/12	-	1
17-72859321-C-T	c.1222G>A	p.A408T	Missense	11/12	-	1
17-72859327-C-T	c.1216G>A	p.V406I	Missense	11/12	-	1
17-72859333-T-C	c.1210A>G	p.T404A	Missense	11/12	-	2
17-72859335-G-A	c.1208C>T	p.P403L	Missense	11/12	-	1
17-72859339-C-T	c.1204G>A	p.G402R	Missense	11/12	-	3
17-72859340-T-C	c.1203A>G	p.R401=	Synonymous	11/12	-	1
17-72859341-C-T	c.1202G>A	p.R401K	Missense	11/12	-	1
17-72859342-T-A	c.1201A>T	p.R401*	Nonsense	11/12	-	1
17-72859347-A-C	c.1196T>G	p.V399G	Missense	11/12	-	1
17-72859348-C-A	c.1195G>T	p.V399L	Missense	11/12	-	1
17-72859348-C-G	c.1195G>C	p.V399L	Missense	11/12	-	1
17-72859349-C-A	c.1194G>T	p.W398C	Missense	11/12	-	1
17-72859353-C-T	c.1190G>A	p.G397D	Missense	11/12	-	1
17-72859354-C-A	c.1189G>T	p.G397C	Missense	11/12	-	1
17-72859354-C-T	c.1189G>A	p.G397S	Missense	11/12	-	2
17-72859356-CT-GG	c.1186_1187delinsCC	p.S396P	Missense	11/12	-	2
17-72859357-T-A	c.1186A>T	p.S396C	Missense	11/12	-	1
17-72859358-GCA-CTC	c.1183_1185delinsGAG	p.C395E	Missense	11/12	-	1
17-72859368-C-T	c.1175G>A	p.G392D	Missense	11/12	-	1
17-72860027-C-G	c.1165G>C	p.D389H	Missense	10/12	-	1
17-72860027-C-T	c.1165G>A	p.D389N	Missense	10/12	-	3
17-72860028-C-T	c.1164G>A	p.M388I	Missense	10/12	-	2
17-72860030-T-G	c.1162A>C	p.M388L	Missense	10/12	-	1
17-72860035-C-T	c.1157G>A	p.R386Q	Missense	10/12	-	1
17-72860034-C-A	c.1158G>T	p.R386=	Synonymous	10/12	-	1
17-72860034-C-G	c.1158G>C	p.R386=	Synonymous	10/12	-	1
17-72860034-C-T	c.1158G>A	p.R386=	Synonymous	10/12	-	1
17-72860036-G-A	c.1156C>T	p.R386W	Missense	10/12	-	2
17-72860036-G-C	c.1156C>G	p.R386G	Missense	10/12	-	1
17-72860036-G-T	c.1156C>A	p.R386=	Synonymous	10/12	-	1
17-72860038-C-T	c.1154G>A	p.G385D	Missense	10/12	-	1
17-72860039-C-T	c.1153G>A	p.G385S	Missense	10/12	-	1
17-72860037-GC-G	c.1154del	p.G385Afs*15	Frameshift	10/12	-	1
17-72860042-C-A	c.1150G>T	p.E384*	Nonsense	10/12	-	1
17-72860042-C-T	c.1150G>A	p.E384K	Missense	10/12	-	4
17-72860043-C-T	c.1149G>A	p.V383=	Synonymous	10/12	-	1
17-72860047-T-A	c.1145A>T	p.N382I	Missense	10/12	-	1
17-72860047-T-C	c.1145A>G	p.N382S	Missense	10/12	-	2
17-72860049-G-A	c.1143C>T	p.P381=	Synonymous	10/12	-	1
17-72860049-GG-TT	c.1142_1143delinsAA	p.P381Q	Missense	10/12	-	1
17-72860050-G-A	c.1142C>T	p.P381L	Missense	10/12	-	1
17-72860050-G-C	c.1142C>G	p.P381R	Missense	10/12	-	1
17-72860050-G-T	c.1142C>A	p.P381H	Missense	10/12	-	1
17-72860052-G-A	c.1140C>T	p.I380=	Synonymous	10/12	-	2
17-72860057-C-T	c.1135G>A	p.V379I	Missense	10/12	-	1
17-72860058-CCC-GCT	c.1132_1134delinsAGC	p.G378S	Missense	10/12	-	1
17-72860060-C-A	c.1132G>T	p.G378W	Missense	10/12	-	2
17-72860060-C-T	c.1132G>A	p.G378R	Missense	10/12	-	1
17-72860062-A-G	c.1130T>C	p.L377P	Missense	10/12	-	1
17-72860063-G-A	c.1129C>T	p.L377F	Missense	10/12	-	1
17-72860065-T-C	c.1127A>G	p.K376R	Missense	10/12	-	2
17-72860067-G-A	c.1125C>T	p.S375=	Synonymous	10/12	-	4
17-72860068-G-A	c.1124C>T	p.S375F	Missense	10/12	-	2
17-72860068-G-T	c.1124C>A	p.S375Y	Missense	10/12	-	2
17-72860070-G-C	c.1122C>G	p.D374E	Missense	10/12	-	1
17-72860076-G-A	c.1116C>T	p.P372=	Synonymous	10/12	-	1
17-72860076-G-C	c.1116C>G	p.P372=	Synonymous	10/12	-	1
17-72860076-G-T	c.1116C>A	p.P372=	Synonymous	10/12	-	1
17-72860077-G-A	c.1115C>T	p.P372L	Missense	10/12	-	1
17-72860077-G-T	c.1115C>A	p.P372H	Missense	10/12	-	3
17-72860078-G-A	c.1114C>T	p.P372S	Missense	10/12	-	1
17-72860079-C-T	c.1113G>A	p.V371=	Synonymous	10/12	-	1
17-72860081-C-T	c.1111G>A	p.V371M	Missense	10/12	-	3
17-72860082-G-A	c.1110C>T	p.S370=	Synonymous	10/12	-	1
17-72860083-C-A	c.1109G>T	p.S370I	Missense	10/12	-	1
17-72860084-T-C	c.1108A>G	p.S370G	Missense	10/12	-	1
17-72860090-C-T	c.1102G>A	p.D368N	Missense	10/12	-	2
17-72860092-A-C	c.1100T>G	p.V367G	Missense	10/12	-	1
17-72860092-A-T	c.1100T>A	p.V367D	Missense	10/12	-	1
17-72860093-C-T	c.1099G>A	p.V367I	Missense	10/12	-	1
17-72860096-G-A	c.1096C>T	p.P366S	Missense	10/12	-	1
17-72860097-GCG-CCA	c.1093_1095delinsTGG	p.R365W	Missense	10/12	-	1
17-72860097-GC-TT	c.1094_1095delinsAA	p.R365Q	Missense	10/12	-	1
17-72860098-C-T	c.1094G>A	p.R365H	Missense	10/12	-	2
17-72860099-G-A	c.1093C>T	p.R365C	Missense	10/12	-	1
17-72860100-G-A	c.1092C>T	p.S364=	Synonymous	10/12	-	2
17-72860107-T-C	c.1085A>G	p.Y362C	Missense	10/12	-	1
17-72860109-C-A	c.1083G>T	p.G361=	Synonymous	10/12	-	1
17-72860109-C-G	c.1083G>C	p.G361=	Synonymous	10/12	-	2
17-72860109-C-T	c.1083G>A	p.G361=	Synonymous	10/12	-	2
17-72860110-C-A	c.1082G>T	p.G361V	Missense	10/12	-	1
17-72860110-C-T	c.1082G>A	p.G361E	Missense	10/12	-	2
17-72860112-A-T	c.1080T>A	p.I360=	Synonymous	10/12	-	1
17-72860116-C-T	c.1076G>A	p.S359N	Missense	10/12	-	1
17-72860117-T-C	c.1075A>G	p.S359G	Missense	10/12	-	1
17-72860117-T-G	c.1075A>C	p.S359R	Missense	10/12	-	1
17-72860119-CT-TA	c.1072_1073delinsTA	p.S358Y	Missense	10/12	-	1
17-72860122-A-G	c.1070T>C	p.L357P	Missense	10/12	-	2
17-72860126-C-G	c.1066G>C	p.V356L	Missense	10/12	-	2
17-72860129-G-A	c.1063C>T	p.L355=	Synonymous	10/12	-	1
17-72860131-C-T	c.1061G>A	p.G354E	Missense	10/12	-	1
17-72860133-ACA-CTC	c.1057_1059delinsGAG	p.C353E	Missense	10/12	-	1
17-72860134-C-T	c.1058G>A	p.C353Y	Missense	10/12	-	1
17-72860138-G-A	c.1054C>T	p.P352S	Missense	10/12	-	10
17-72860138-GGA-G	c.1052_1053del	p.L351Pfs*12	Frameshift	10/12	-	1
17-72860143-T-G	c.1049A>C	p.D350A	Missense	10/12	-	1
17-72860145-T-A	c.1047A>T	p.E349D	Missense	10/12	-	1
17-72860145-T-G	c.1047A>C	p.E349D	Missense	10/12	-	1
17-72860147-C-G	c.1045G>C	p.E349Q	Missense	10/12	-	1
17-72860147-C-T	c.1045G>A	p.E349K	Missense	10/12	-	3
17-72860148-C-T	c.1044G>A	p.M348I	Missense	10/12	-	3
17-72860149-A-T	c.1043T>A	p.M348K	Missense	10/12	-	1
17-72860152-T-G	c.1040A>C	p.D347A	Missense	10/12	-	1
17-72860157-C-A	c.1035G>T	p.T345=	Synonymous	10/12	-	1
17-72860157-C-G	c.1035G>C	p.T345=	Synonymous	10/12	-	1
17-72860157-C-T	c.1035G>A	p.T345=	Synonymous	10/12	-	1
17-72860158-G-A	c.1034C>T	p.T345M	Missense	10/12	-	6
17-72860159-T-C	c.1033A>G	p.T345A	Missense	10/12	-	1
17-72860159-T-G	c.1033A>C	p.T345P	Missense	10/12	-	1
17-72860162-G-A	c.1030C>T	p.P344S	Missense	10/12	-	2
17-72860164-A-T	c.1028T>A	p.V343E	Missense	10/12	-	1
17-72860165-C-T	c.1027G>A	p.V343M	Missense	10/12	-	2
17-72860170-C-T	c.1022G>A	p.R341H	Missense	10/12	-	2
17-72860171-G-A	c.1021C>T	p.R341C	Missense	10/12	-	2
17-72860183-C-T	c.1009G>A	p.D337N	Missense	10/12	-	2
17-72860188-C-A	c.1004G>T	p.G335V	Missense	10/12	-	1
17-72860189-C-T	c.1003G>A	p.G335S	Missense	10/12	-	1
17-72860198-G-GA	c.1003-10dup	-	IntronicInsertion	-	9/11	1
17-72860203-T-C	c.1003-14A>G	-	IntronicSNV	-	9/11	1
17-72860253-A-C	c.1002+17T>G	-	IntronicSNV	-	9/11	9
17-72860253-A-G	c.1002+17T>C	-	IntronicSNV	-	9/11	9
17-72860262-A-G	c.1002+8T>C	-	IntronicSNV	-	9/11	1
17-72860272-C-T	c.1000G>A	p.E334K	Missense	9/12	-	1
17-72860274-A-G	c.998T>C	p.L333P	Missense	9/12	-	1
17-72860275-G-A	c.997C>T	p.L333=	Synonymous	9/12	-	1
17-72860276-TCT-ACA	c.994_996delinsTGT	p.R332C	Missense	9/12	-	4
17-72860276-TCT-CCA	c.994_996delinsTGG	p.R332W	Missense	9/12	-	2
17-72860277-C-T	c.995G>A	p.R332K	Missense	9/12	-	2
17-72860278-T-A	c.994A>T	p.R332*	Nonsense	9/12	-	1
17-72860278-T-C	c.994A>G	p.R332G	Missense	9/12	-	2
17-72860281-T-C	c.991A>G	p.T331A	Missense	9/12	-	1
17-72860284-C-T	c.988G>A	p.V330I	Missense	9/12	-	1
17-72860285-T-C	c.987A>G	p.A329=	Synonymous	9/12	-	1
17-72860286-G-T	c.986C>A	p.A329E	Missense	9/12	-	1
17-72860290-G-A	c.982C>T	p.L328=	Synonymous	9/12	-	1
17-72860291-G-A	c.981C>T	p.R327=	Synonymous	9/12	-	1
17-72860291-G-C	c.981C>G	p.R327=	Synonymous	9/12	-	1
17-72860291-GC-TT	c.980_981delinsAA	p.R327Q	Missense	9/12	-	1
17-72860291-G-T	c.981C>A	p.R327=	Synonymous	9/12	-	1
17-72860292-C-A	c.980G>T	p.R327L	Missense	9/12	-	1
17-72860292-C-T	c.980G>A	p.R327H	Missense	9/12	-	1
17-72860293-G-A	c.979C>T	p.R327C	Missense	9/12	-	4
17-72860293-G-T	c.979C>A	p.R327S	Missense	9/12	-	3
17-72860296-C-T	c.976G>A	p.V326I	Missense	9/12	-	2
17-72860298-C-T	c.974G>A	p.G325D	Missense	9/12	-	1
17-72860301-G-T	c.971C>A	p.A324E	Missense	9/12	-	1
17-72860302-C-T	c.970G>A	p.A324T	Missense	9/12	-	3
17-72860303-T-A	c.969A>T	p.A323=	Synonymous	9/12	-	1
17-72860305-C-G	c.967G>C	p.A323P	Missense	9/12	-	1
17-72860305-C-T	c.967G>A	p.A323T	Missense	9/12	-	1
17-72860307-C-T	c.965G>A	p.R322Q	Missense	9/12	-	2
17-72860308-G-A	c.964C>T	p.R322W	Missense	9/12	-	4
17-72860308-GC-G	c.963del	p.R322Gfs*7	Frameshift	9/12	-	1
17-72860310-C-A	c.962G>T	p.R321L	Missense	9/12	-	1
17-72860310-C-T	c.962G>A	p.R321Q	Missense	9/12	-	2
17-72860309-C-A	c.963G>T	p.R321=	Synonymous	9/12	-	1
17-72860309-C-G	c.963G>C	p.R321=	Synonymous	9/12	-	1
17-72860309-C-T	c.963G>A	p.R321=	Synonymous	9/12	-	1
17-72860311-G-A	c.961C>T	p.R321W	Missense	9/12	-	3
17-72860311-G-T	c.961C>A	p.R321=	Synonymous	9/12	-	1
17-72860312-C-T	c.960G>A	p.G320=	Synonymous	9/12	-	1
17-72860316-T-C	c.956A>G	p.D319G	Missense	9/12	-	1
17-72860320-G-T	c.952C>A	p.P318T	Missense	9/12	-	2
17-72860325-G-A	c.947C>T	p.P316L	Missense	9/12	-	1
17-72860327-C-T	c.945G>A	p.L315=	Synonymous	9/12	-	1
17-72860329-G-C	c.943C>G	p.L315V	Missense	9/12	-	1
17-72860330-C-CA	c.941dup	p.L315Afs*18	Frameshift	9/12	-	1
17-72860332-C-A	c.940G>T	p.V314L	Missense	9/12	-	3
17-72860332-C-T	c.940G>A	p.V314M	Missense	9/12	-	1
17-72860337-T-A	c.935A>T	p.Q312L	Missense	9/12	-	1
17-72860338-G-A	c.934C>T	p.Q312*	Nonsense	9/12	-	2
17-72860340-G-A	c.932C>T	p.P311L	Missense	9/12	-	2
17-72860342-G-A	c.930C>T	p.S310=	Synonymous	9/12	-	1
17-72860345-T-C	c.927A>G	p.R309=	Synonymous	9/12	-	1
17-72860346-C-T	c.926G>A	p.R309Q	Missense	9/12	-	2
17-72860347-G-A	c.925C>T	p.R309*	Nonsense	9/12	-	5
17-72860347-G-C	c.925C>G	p.R309G	Missense	9/12	-	2
17-72860348-G-A	c.924C>T	p.F308=	Synonymous	9/12	-	1
17-72860351-A-C	c.921T>G	p.F307L	Missense	9/12	-	2
17-72860351-A-T	c.921T>A	p.F307L	Missense	9/12	-	2
17-72860353-A-G	c.919T>C	p.F307L	Missense	9/12	-	2
17-72860355-C-T	c.917G>A	p.R306H	Missense	9/12	-	4
17-72860356-G-A	c.916C>T	p.R306C	Missense	9/12	-	8
17-72860359-G-A	c.913C>T	p.L305F	Missense	9/12	-	1
17-72860361-C-A	c.911G>T	p.G304V	Missense	9/12	-	1
17-72860361-C-T	c.911G>A	p.G304D	Missense	9/12	-	1
17-72860366-G-A	c.906C>T	p.A302=	Synonymous	9/12	-	1
17-72860368-C-A	c.904G>T	p.A302S	Missense	9/12	-	1
17-72860368-C-T	c.904G>A	p.A302T	Missense	9/12	-	1
17-72860369-ACG-TCA	c.901_903delinsTGA	p.R301*	Nonsense	9/12	-	3
17-72860370-C-T	c.902G>A	p.R301H	Missense	9/12	-	1
17-72860371-G-A	c.901C>T	p.R301C	Missense	9/12	-	10
17-72860372-G-A	c.900C>T	p.S300=	Synonymous	9/12	-	1
17-72860373-G-A	c.899C>T	p.S300F	Missense	9/12	-	3
17-72860374-A-T	c.898T>A	p.S300T	Missense	9/12	-	1
17-72860375-G-A	c.897C>T	p.A299=	Synonymous	9/12	-	1
17-72860375-G-C	c.897C>G	p.A299=	Synonymous	9/12	-	1
17-72860375-G-T	c.897C>A	p.A299=	Synonymous	9/12	-	1
17-72860378-C-A	c.894G>T	p.S298=	Synonymous	9/12	-	1
17-72860378-C-G	c.894G>C	p.S298=	Synonymous	9/12	-	1
17-72860378-C-T	c.894G>A	p.S298=	Synonymous	9/12	-	1
17-72860379-G-A	c.893C>T	p.S298L	Missense	9/12	-	3
17-72860382-G-A	c.890C>T	p.A297V	Missense	9/12	-	3
17-72860383-C-T	c.889G>A	p.A297T	Missense	9/12	-	1
17-72860386-G-T	c.886C>A	p.Q296K	Missense	9/12	-	1
17-72860388-C-A	c.884G>T	p.R295L	Missense	9/12	-	1
17-72860388-C-T	c.884G>A	p.R295H	Missense	9/12	-	1
17-72860389-G-A	c.883C>T	p.R295C	Missense	9/12	-	1
17-72860390-G-A	c.882C>T	p.A294=	Synonymous	9/12	-	1
17-72860393-A-C	c.879T>G	p.A293=	Synonymous	9/12	-	3
17-72860393-A-G	c.879T>C	p.A293=	Synonymous	9/12	-	3
17-72860393-A-T	c.879T>A	p.A293=	Synonymous	9/12	-	3
17-72860395-C-T	c.877G>A	p.A293T	Missense	9/12	-	2
17-72860400-G-A	c.872C>T	p.A291V	Missense	9/12	-	5
17-72860400-G-C	c.872C>G	p.A291G	Missense	9/12	-	2
17-72860401-C-T	c.871G>A	p.A291T	Missense	9/12	-	1
17-72860402-C-T	c.870G>A	p.P290=	Synonymous	9/12	-	1
17-72860403-G-A	c.869C>T	p.P290L	Missense	9/12	-	1
17-72860405-C-T	c.867G>A	p.G289=	Synonymous	9/12	-	1
17-72860407-C-G	c.865G>C	p.G289R	Missense	9/12	-	2
17-72860408-T-C	c.864A>G	p.P288=	Synonymous	9/12	-	1
17-72860409-G-A	c.863C>T	p.P288L	Missense	9/12	-	3
17-72860411-C-A	c.861G>T	p.K287N	Missense	9/12	-	1
17-72860411-C-G	c.861G>C	p.K287N	Missense	9/12	-	1
17-72860416-C-G	c.856G>C	p.E286Q	Missense	9/12	-	1
17-72860418-G-A	c.854C>T	p.T285I	Missense	9/12	-	2
17-72860419-T-C	c.853A>G	p.T285A	Missense	9/12	-	2
17-72860422-C-T	c.850G>A	p.A284T	Missense	9/12	-	1
17-72860423-C-A	c.849G>T	p.T283=	Synonymous	9/12	-	3
17-72860423-C-G	c.849G>C	p.T283=	Synonymous	9/12	-	3
17-72860423-C-T	c.849G>A	p.T283=	Synonymous	9/12	-	3
17-72860424-G-A	c.848C>T	p.T283M	Missense	9/12	-	2
17-72860424-G-C	c.848C>G	p.T283R	Missense	9/12	-	1
17-72860426-TCG-CCA	c.844_846delinsTGG	p.R282W	Missense	9/12	-	1
17-72860427-C-T	c.845G>A	p.R282Q	Missense	9/12	-	3
17-72860428-G-C	c.844C>G	p.R282G	Missense	9/12	-	1
17-72860431-G-A	c.841C>T	p.L281F	Missense	9/12	-	1
17-72860431-G-T	c.841C>A	p.L281I	Missense	9/12	-	1
17-72860434-AGC-A	c.837_838del	p.L280Afs*52	Frameshift	9/12	-	1
17-72860437-G-T	c.835C>A	p.L279M	Missense	9/12	-	1
17-72860438-T-G	c.834A>C	p.E278D	Missense	9/12	-	1
17-72860441-C-A	c.831G>T	p.T277=	Synonymous	9/12	-	2
17-72860441-C-T	c.831G>A	p.T277=	Synonymous	9/12	-	4
17-72860442-G-A	c.830C>T	p.T277M	Missense	9/12	-	4
17-72860443-T-C	c.829A>G	p.T277A	Missense	9/12	-	1
17-72860446-G-A	c.826C>T	p.L276=	Synonymous	9/12	-	1
17-72860447-CC-AT	c.824_825delinsAT	p.R275H	Missense	9/12	-	1
17-72860447-CCG-ACA	c.823_825delinsTGT	p.R275C	Missense	9/12	-	2
17-72860448-C-G	c.824G>C	p.R275P	Missense	9/12	-	2
17-72860448-C-T	c.824G>A	p.R275Q	Missense	9/12	-	2
17-72860449-G-A	c.823C>T	p.R275W	Missense	9/12	-	4
17-72860450-C-A	c.822G>T	p.K274N	Missense	9/12	-	1
17-72860450-C-G	c.822G>C	p.K274N	Missense	9/12	-	1
17-72860451-T-A	c.821A>T	p.K274M	Missense	9/12	-	1
17-72860452-T-C	c.820A>G	p.K274E	Missense	9/12	-	1
17-72860452-T-G	c.820A>C	p.K274Q	Missense	9/12	-	1
17-72860453-CCT-ACA	c.817_819delinsTGT	p.R273C	Missense	9/12	-	1
17-72860453-CCT-ATG	c.817_819delinsCAT	p.R273H	Missense	9/12	-	1
17-72860453-C-G	c.819G>C	p.R273S	Missense	9/12	-	1
17-72860454-C-A	c.818G>T	p.R273M	Missense	9/12	-	1
17-72860455-T-C	c.817A>G	p.R273G	Missense	9/12	-	1
17-72860457-G-A	c.815C>T	p.P272L	Missense	9/12	-	1
17-72860458-G-A	c.814C>T	p.P272S	Missense	9/12	-	2
17-72860459-G-A	c.813C>T	p.R271=	Synonymous	9/12	-	2
17-72860459-G-C	c.813C>G	p.R271=	Synonymous	9/12	-	2
17-72860459-GCG-CCA	c.811_813delinsTGG	p.R271W	Missense	9/12	-	1
17-72860459-G-T	c.813C>A	p.R271=	Synonymous	9/12	-	2
17-72860460-C-A	c.812G>T	p.R271L	Missense	9/12	-	2
17-72860460-C-G	c.812G>C	p.R271P	Missense	9/12	-	3
17-72860460-C-T	c.812G>A	p.R271H	Missense	9/12	-	2
17-72860461-G-A	c.811C>T	p.R271C	Missense	9/12	-	3
17-72860461-G-T	c.811C>A	p.R271S	Missense	9/12	-	1
17-72860462-G-A	c.810C>T	p.P270=	Synonymous	9/12	-	2
17-72860463-G-T	c.809C>A	p.P270H	Missense	9/12	-	2
17-72860464-G-A	c.808C>T	p.P270S	Missense	9/12	-	1
17-72860466-A-G	c.806T>C	p.V269A	Missense	9/12	-	1
17-72860467-C-CCGTA	c.804_805insTACG	p.V269Yfs*65	SpliceAcceptorInsertion	9/12	-	1
17-72860468-C-G	c.804G>C	p.E268D	Missense	9/12	-	2
17-72860468-C-T	c.804G>A	p.E268=	Synonymous	9/12	-	1
17-72860471-T-C	c.803-2A>G	-	IntronicSNV	-	8/11	1
17-72860509-C-T	c.803-40G>A	-	IntronicSNV	-	8/11	1
17-72860602-C-T	c.802G>A	p.E268K	Missense	8/12	-	1
17-72860603-C-G	c.801G>C	p.K267N	Missense	8/12	-	1
17-72860607-A-C	c.797T>G	p.I266S	Missense	8/12	-	1
17-72860612-G-C	c.792C>G	p.D264E	Missense	8/12	-	1
17-72860612-G-T	c.792C>A	p.D264E	Missense	8/12	-	2
17-72860613-T-C	c.791A>G	p.D264G	Missense	8/12	-	1
17-72860614-C-A	c.790G>T	p.D264Y	Missense	8/12	-	2
17-72860615-C-T	c.789G>A	p.Q263=	Synonymous	8/12	-	2
17-72860620-G-A	c.784C>T	p.L262F	Missense	8/12	-	2
17-72860623-C-T	c.781G>A	p.G261S	Missense	8/12	-	1
17-72860624-C-T	c.780G>A	p.L260=	Synonymous	8/12	-	1
17-72860631-T-C	c.773A>G	p.D258G	Missense	8/12	-	1
17-72860632-C-T	c.772G>A	p.D258N	Missense	8/12	-	3
17-72860636-A-C	c.768T>G	p.P256=	Synonymous	8/12	-	1
17-72860636-A-G	c.768T>C	p.P256=	Synonymous	8/12	-	1
17-72860636-A-T	c.768T>A	p.P256=	Synonymous	8/12	-	1
17-72860637-G-A	c.767C>T	p.P256L	Missense	8/12	-	4
17-72860638-G-A	c.766C>T	p.P256S	Missense	8/12	-	1
17-72860641-C-T	c.763G>A	p.D255N	Missense	8/12	-	1
17-72860642-C-T	c.762G>A	p.L254=	Synonymous	8/12	-	1
17-72860648-G-A	c.756C>T	p.P252=	Synonymous	8/12	-	3
17-72860648-G-C	c.756C>G	p.P252=	Synonymous	8/12	-	1
17-72860648-G-T	c.756C>A	p.P252=	Synonymous	8/12	-	1
17-72860651-CC-AT	c.752_753delinsAT	p.R251H	Missense	8/12	-	1
17-72860651-C-T	c.753G>A	p.R251=	Synonymous	8/12	-	1
17-72860652-C-G	c.752G>C	p.R251P	Missense	8/12	-	2
17-72860652-C-T	c.752G>A	p.R251Q	Missense	8/12	-	2
17-72860653-G-A	c.751C>T	p.R251W	Missense	8/12	-	7
17-72860654-G-A	c.750C>T	p.A250=	Synonymous	8/12	-	7
17-72860654-G-C	c.750C>G	p.A250=	Synonymous	8/12	-	1
17-72860654-G-T	c.750C>A	p.A250=	Synonymous	8/12	-	1
17-72860655-G-A	c.749C>T	p.A250V	Missense	8/12	-	1
17-72860655-G-C	c.749C>G	p.A250G	Missense	8/12	-	1
17-72860656-C-T	c.748G>A	p.A250T	Missense	8/12	-	1
17-72860657-T-C	c.747A>G	p.G249=	Synonymous	8/12	-	1
17-72860658-C-G	c.746G>C	p.G249A	Missense	8/12	-	2
17-72860658-C-T	c.746G>A	p.G249E	Missense	8/12	-	1
17-72860659-C-G	c.745G>C	p.G249R	Missense	8/12	-	1
17-72860660-C-A	c.744G>T	p.P248=	Synonymous	8/12	-	1
17-72860660-C-G	c.744G>C	p.P248=	Synonymous	8/12	-	1
17-72860660-C-T	c.744G>A	p.P248=	Synonymous	8/12	-	2
17-72860661-G-A	c.743C>T	p.P248L	Missense	8/12	-	6
17-72860663-T-A	c.741A>T	p.L247F	Missense	8/12	-	1
17-72860663-T-G	c.741A>C	p.L247F	Missense	8/12	-	2
17-72860673-A-G	c.731T>C	p.M244T	Missense	8/12	-	1
17-72860674-T-A	c.730A>T	p.M244L	Missense	8/12	-	2
17-72860674-T-C	c.730A>G	p.M244V	Missense	8/12	-	1
17-72860675-C-T	c.729G>A	p.E243=	Synonymous	8/12	-	1
17-72860679-CG-AT	c.724_725delinsAT	p.R242M	Missense	8/12	-	1
17-72860679-C-T	c.725G>A	p.R242Q	Missense	8/12	-	3
17-72860680-G-A	c.724C>T	p.R242W	Missense	8/12	-	3
17-72860680-G-C	c.724C>G	p.R242G	Missense	8/12	-	1
17-72860681-A-G	c.723T>C	p.L241=	Synonymous	8/12	-	1
17-72860685-T-C	c.719A>G	p.E240G	Missense	8/12	-	1
17-72860948-T-C	c.715A>G	p.K239E	Missense	7/12	-	1
17-72860950-A-T	c.713T>A	p.I238N	Missense	7/12	-	2
17-72860951-T-G	c.712A>C	p.I238L	Missense	7/12	-	1
17-72860952-G-A	c.711C>T	p.T237=	Synonymous	7/12	-	2
17-72860952-G-C	c.711C>G	p.T237=	Synonymous	7/12	-	2
17-72860952-G-T	c.711C>A	p.T237=	Synonymous	7/12	-	2
17-72860954-T-C	c.709A>G	p.T237A	Missense	7/12	-	3
17-72860955-G-A	c.708C>T	p.F236=	Synonymous	7/12	-	1
17-72860959-G-A	c.704C>T	p.A235V	Missense	7/12	-	2
17-72860959-G-T	c.704C>A	p.A235D	Missense	7/12	-	1
17-72860957-AGGCCACTTGCAG-A	c.694_705del	p.L232_A235del	InFrameDeletion	7/12	-	1
17-72860960-C-T	c.703G>A	p.A235T	Missense	7/12	-	1
17-72860963-C-T	c.700G>A	p.V234M	Missense	7/12	-	2
17-72860965-T-C	c.698A>G	p.Q233R	Missense	7/12	-	4
17-72860966-G-A	c.697C>T	p.Q233*	Nonsense	7/12	-	1
17-72860967-C-A	c.696G>T	p.L232=	Synonymous	7/12	-	2
17-72860967-C-G	c.696G>C	p.L232=	Synonymous	7/12	-	1
17-72860967-C-T	c.696G>A	p.L232=	Synonymous	7/12	-	1
17-72860969-G-A	c.694C>T	p.L232=	Synonymous	7/12	-	1
17-72860968-A-G	c.695T>C	p.L232P	Missense	7/12	-	1
17-72860971-G-A	c.692C>T	p.P231L	Missense	7/12	-	1
17-72860971-G-T	c.692C>A	p.P231H	Missense	7/12	-	1
17-72860972-G-T	c.691C>A	p.P231T	Missense	7/12	-	1
17-72860976-ACG-CAT	c.685_687delinsATG	p.R229M	Missense	7/12	-	1
17-72860977-C-T	c.686G>A	p.R229H	Missense	7/12	-	1
17-72860978-G-A	c.685C>T	p.R229C	Missense	7/12	-	5
17-72860980-C-A	c.683G>T	p.R228L	Missense	7/12	-	2
17-72860980-C-G	c.683G>C	p.R228P	Missense	7/12	-	2
17-72860980-C-T	c.683G>A	p.R228Q	Missense	7/12	-	3
17-72860979-C-A	c.684G>T	p.R228=	Synonymous	7/12	-	1
17-72860979-C-G	c.684G>C	p.R228=	Synonymous	7/12	-	1
17-72860979-C-T	c.684G>A	p.R228=	Synonymous	7/12	-	1
17-72860981-G-A	c.682C>T	p.R228W	Missense	7/12	-	3
17-72860981-G-T	c.682C>A	p.R228=	Synonymous	7/12	-	1
17-72860982-G-A	c.681C>T	p.G227=	Synonymous	7/12	-	2
17-72860982-G-C	c.681C>G	p.G227=	Synonymous	7/12	-	2
17-72860982-G-T	c.681C>A	p.G227=	Synonymous	7/12	-	2
17-72860983-C-T	c.680G>A	p.G227D	Missense	7/12	-	1
17-72860985-C-T	c.678G>A	p.V226=	Synonymous	7/12	-	1
17-72860987-C-A	c.676G>T	p.V226L	Missense	7/12	-	1
17-72860987-C-G	c.676G>C	p.V226L	Missense	7/12	-	1
17-72860990-G-A	c.673C>T	p.L225=	Synonymous	7/12	-	1
17-72860994-C-A	c.669G>T	p.V223=	Synonymous	7/12	-	1
17-72860994-C-G	c.669G>C	p.V223=	Synonymous	7/12	-	1
17-72860994-C-T	c.669G>A	p.V223=	Synonymous	7/12	-	1
17-72860996-C-T	c.667G>A	p.V223M	Missense	7/12	-	4
17-72861000-C-A	c.663G>T	p.K221N	Missense	7/12	-	2
17-72861001-T-C	c.662A>G	p.K221R	Missense	7/12	-	3
17-72861001-T-G	c.662A>C	p.K221T	Missense	7/12	-	2
17-72861001-TT-GC	c.661_662delinsGC	p.K221A	Missense	7/12	-	2
17-72861003-C-A	c.660G>T	p.V220=	Synonymous	7/12	-	1
17-72861003-C-G	c.660G>C	p.V220=	Synonymous	7/12	-	1
17-72861003-C-T	c.660G>A	p.V220=	Synonymous	7/12	-	1
17-72861004-A-G	c.659T>C	p.V220A	Missense	7/12	-	1
17-72861005-C-T	c.658G>A	p.V220M	Missense	7/12	-	2
17-72861006-TC-AT	c.656_657delinsAT	p.R219H	Missense	7/12	-	2
17-72861007-C-T	c.656G>A	p.R219Q	Missense	7/12	-	4
17-72861008-G-A	c.655C>T	p.R219*	Nonsense	7/12	-	3
17-72861008-G-T	c.655C>A	p.R219=	Synonymous	7/12	-	1
17-72861009-A-G	c.654T>C	p.S218=	Synonymous	7/12	-	1
17-72861010-CT-AG	c.652_653inv	p.S218L	Missense	7/12	-	1
17-72861012-C-A	c.651G>T	p.Q217H	Missense	7/12	-	1
17-72861020-G-C	c.643C>G	p.L215V	Missense	7/12	-	4
17-72861023-C-A	c.640G>T	p.V214L	Missense	7/12	-	1
17-72861024-AC-CT	c.638_639delinsAG	p.G213E	Missense	7/12	-	1
17-72861024-A-G	c.639T>C	p.G213=	Synonymous	7/12	-	1
17-72861025-C-A	c.638G>T	p.G213V	Missense	7/12	-	2
17-72861025-C-G	c.638G>C	p.G213A	Missense	7/12	-	1
17-72861026-C-G	c.637G>C	p.G213R	Missense	7/12	-	1
17-72861026-C-T	c.637G>A	p.G213S	Missense	7/12	-	1
17-72861030-G-A	c.633C>T	p.A211=	Synonymous	7/12	-	1
17-72861030-G-C	c.633C>G	p.A211=	Synonymous	7/12	-	1
17-72861030-G-T	c.633C>A	p.A211=	Synonymous	7/12	-	1
17-72861033-T-A	c.630A>T	p.A210=	Synonymous	7/12	-	2
17-72861033-T-C	c.630A>G	p.A210=	Synonymous	7/12	-	2
17-72861033-T-G	c.630A>C	p.A210=	Synonymous	7/12	-	2
17-72861035-C-A	c.628G>T	p.A210S	Missense	7/12	-	1
17-72861035-C-T	c.628G>A	p.A210T	Missense	7/12	-	1
17-72861037-T-C	c.626A>G	p.K209R	Missense	7/12	-	1
17-72861039-C-A	c.624G>T	p.T208=	Synonymous	7/12	-	1
17-72861039-C-G	c.624G>C	p.T208=	Synonymous	7/12	-	1
17-72861039-C-T	c.624G>A	p.T208=	Synonymous	7/12	-	1
17-72861040-G-A	c.623C>T	p.T208M	Missense	7/12	-	2
17-72861043-A-C	c.620T>G	p.I207S	Missense	7/12	-	1
17-72861044-T-A	c.619A>T	p.I207F	Missense	7/12	-	1
17-72861044-T-C	c.619A>G	p.I207V	Missense	7/12	-	1
17-72861047-C-T	c.616G>A	p.D206N	Missense	7/12	-	1
17-72861049-G-A	c.614C>T	p.T205M	Missense	7/12	-	2
17-72861050-T-C	c.613A>G	p.T205A	Missense	7/12	-	1
17-72861052-C-A	c.611G>T	p.R204I	Missense	7/12	-	1
17-72861052-C-T	c.611G>A	p.R204K	Missense	7/12	-	1
17-72861057-G-A	c.610-4C>T	-	IntronicSNV	-	6/11	1
17-72861057-G-C	c.610-4C>G	-	IntronicSNV	-	6/11	1
17-72861058-C-A	c.610-5G>T	-	IntronicSNV	-	6/11	1
17-72861058-C-T	c.610-5G>A	-	IntronicSNV	-	6/11	1
17-72861061-A-C	c.610-8T>G	-	IntronicSNV	-	6/11	1
17-72861145-A-G	c.610-92T>C	-	IntronicSNV	-	6/11	3
17-72861718-C-A	c.609+123G>T	-	IntronicSNV	-	6/11	1
17-72861829-C-A	c.609+12G>T	-	IntronicSNV	-	6/11	1
17-72861841-C-T	c.609G>A	p.E203=	Synonymous	6/12	-	1
17-72861842-T-C	c.608A>G	p.E203G	Missense	6/12	-	1
17-72861845-A-C	c.605T>G	p.L202R	Missense	6/12	-	2
17-72861845-AG-GC	c.604_605delinsGC	p.L202A	Missense	6/12	-	1
17-72861850-C-T	c.600G>A	p.E200=	Synonymous	6/12	-	1
17-72861851-T-C	c.599A>G	p.E200G	Missense	6/12	-	1
17-72861852-C-T	c.598G>A	p.E200K	Missense	6/12	-	1
17-72861853-A-C	c.597T>G	p.P199=	Synonymous	6/12	-	1
17-72861853-A-G	c.597T>C	p.P199=	Synonymous	6/12	-	1
17-72861853-A-T	c.597T>A	p.P199=	Synonymous	6/12	-	1
17-72861857-G-A	c.593C>T	p.P198L	Missense	6/12	-	1
17-72861858-G-A	c.592C>T	p.P198S	Missense	6/12	-	1
17-72861860-G-T	c.590C>A	p.T197N	Missense	6/12	-	1
17-72861862-C-A	c.588G>T	p.L196=	Synonymous	6/12	-	1
17-72861862-C-G	c.588G>C	p.L196=	Synonymous	6/12	-	1
17-72861862-C-T	c.588G>A	p.L196=	Synonymous	6/12	-	1
17-72861864-G-A	c.586C>T	p.L196=	Synonymous	6/12	-	1
17-72861864-G-C	c.586C>G	p.L196V	Missense	6/12	-	2
17-72861870-T-C	c.580A>G	p.I194V	Missense	6/12	-	1
17-72861871-G-A	c.579C>T	p.R193=	Synonymous	6/12	-	1
17-72861872-C-T	c.578G>A	p.R193H	Missense	6/12	-	3
17-72861873-G-A	c.577C>T	p.R193C	Missense	6/12	-	2
17-72861873-G-C	c.577C>G	p.R193G	Missense	6/12	-	1
17-72861873-G-T	c.577C>A	p.R193S	Missense	6/12	-	2
17-72861875-G-A	c.575C>T	p.A192V	Missense	6/12	-	4
17-72861878-A-G	c.572T>C	p.V191A	Missense	6/12	-	1
17-72861879-C-T	c.571G>A	p.V191M	Missense	6/12	-	3
17-72861880-G-A	c.570C>T	p.D190=	Synonymous	6/12	-	1
17-72861880-G-T	c.570C>A	p.D190E	Missense	6/12	-	1
17-72861882-C-A	c.568G>T	p.D190Y	Missense	6/12	-	1
17-72861883-C-A	c.567G>T	p.L189=	Synonymous	6/12	-	1
17-72861883-CAG-AAA	c.565_567delinsTTT	p.L189F	Missense	6/12	-	3
17-72861883-C-G	c.567G>C	p.L189=	Synonymous	6/12	-	1
17-72861883-C-T	c.567G>A	p.L189=	Synonymous	6/12	-	1
17-72861885-G-A	c.565C>T	p.L189=	Synonymous	6/12	-	1
17-72861886-A-G	c.564T>C	p.A188=	Synonymous	6/12	-	1
17-72861887-G-C	c.563C>G	p.A188G	Missense	6/12	-	1
17-72861890-A-G	c.560T>C	p.V187A	Missense	6/12	-	1
17-72861891-C-T	c.559G>A	p.V187M	Missense	6/12	-	2
17-72861893-T-C	c.557A>G	p.N186S	Missense	6/12	-	1
17-72861895-C-T	c.555G>A	p.G185=	Synonymous	6/12	-	1
17-72861900-G-C	c.550C>G	p.Q184E	Missense	6/12	-	1
17-72861900-G-T	c.550C>A	p.Q184K	Missense	6/12	-	2
17-72861901-C-A	c.549G>T	p.G183=	Synonymous	6/12	-	1
17-72861901-C-G	c.549G>C	p.G183=	Synonymous	6/12	-	1
17-72861901-C-T	c.549G>A	p.G183=	Synonymous	6/12	-	1
17-72861906-G-A	c.544C>T	p.L182=	Synonymous	6/12	-	1
17-72861907-A-G	c.543T>C	p.I181=	Synonymous	6/12	-	1
17-72861909-T-C	c.541A>G	p.I181V	Missense	6/12	-	1
17-72861912-C-T	c.538G>A	p.V180M	Missense	6/12	-	2
17-72861913-G-C	c.537C>G	p.A179=	Synonymous	6/12	-	1
17-72861914-G-A	c.536C>T	p.A179V	Missense	6/12	-	1
17-72861915-C-T	c.535G>A	p.A179T	Missense	6/12	-	2
17-72861921-C-T	c.529G>A	p.D177N	Missense	6/12	-	1
17-72861923-C-A	c.527G>T	p.C176F	Missense	6/12	-	1
17-72861923-C-G	c.527G>C	p.C176S	Missense	6/12	-	2
17-72861923-C-T	c.527G>A	p.C176Y	Missense	6/12	-	1
17-72861924-A-C	c.526T>G	p.C176G	Missense	6/12	-	3
17-72861926-C-A	c.524G>T	p.S175I	Missense	6/12	-	1
17-72861926-C-G	c.524G>C	p.S175T	Missense	6/12	-	1
17-72861926-CT-AG	c.523_524inv	p.S175L	Missense	6/12	-	1
17-72861928-C-A	c.522G>T	p.L174=	Synonymous	6/12	-	1
17-72861928-CAG-ACA	c.520_522delinsTGT	p.L174C	Missense	6/12	-	1
17-72861928-C-G	c.522G>C	p.L174=	Synonymous	6/12	-	1
17-72861928-C-T	c.522G>A	p.L174=	Synonymous	6/12	-	1
17-72861930-G-A	c.520C>T	p.L174=	Synonymous	6/12	-	1
17-72861929-A-G	c.521T>C	p.L174P	Missense	6/12	-	1
17-72861935-G-A	c.515C>T	p.P172L	Missense	6/12	-	1
17-72861937-C-G	c.513G>C	p.E171D	Missense	6/12	-	2
17-72861937-C-T	c.513G>A	p.E171=	Synonymous	6/12	-	1
17-72861939-C-T	c.511G>A	p.E171K	Missense	6/12	-	2
17-72861940-C-A	c.510G>T	p.L170=	Synonymous	6/12	-	1
17-72861940-C-G	c.510G>C	p.L170=	Synonymous	6/12	-	1
17-72861940-C-T	c.510G>A	p.L170=	Synonymous	6/12	-	1
17-72861942-G-A	c.508C>T	p.L170=	Synonymous	6/12	-	1
17-72861942-G-C	c.508C>G	p.L170V	Missense	6/12	-	2
17-72861950-G-A	c.508-8C>T	-	IntronicSNV	-	5/11	1
17-72861974-G-A	c.508-32C>T	-	IntronicSNV	-	5/11	8
17-72861974-G-C	c.508-32C>G	-	IntronicSNV	-	5/11	8
17-72861974-G-T	c.508-32C>A	-	IntronicSNV	-	5/11	8
17-72861980-G-A	c.508-38C>T	-	IntronicSNV	-	5/11	4
17-72861980-G-C	c.508-38C>G	-	IntronicSNV	-	5/11	4
17-72861991-C-T	c.508-49G>A	-	IntronicSNV	-	5/11	7
17-72862155-T-G	c.507+98A>C	-	IntronicSNV	-	5/11	5
17-72862236-G-A	c.507+17C>T	-	IntronicSNV	-	5/11	1
17-72862250-C-T	c.507+3G>A	-	IntronicSNV	-	5/11	1
17-72862251-A-G	c.507+2T>C	-	IntronicSNV	-	5/11	2
17-72862252-C-T	c.507+1G>A	-	IntronicSNV	-	5/11	1
17-72862253-C-G	c.507G>C	p.E169D	Missense	5/12	-	2
17-72862253-C-T	c.507G>A	p.E169=	Synonymous	5/12	-	1
17-72862254-T-C	c.506A>G	p.E169G	Missense	5/12	-	1
17-72862260-T-C	c.500A>G	p.N167S	Missense	5/12	-	1
17-72862262-C-A	c.498G>T	p.E166D	Missense	5/12	-	1
17-72862263-T-C	c.497A>G	p.E166G	Missense	5/12	-	2
17-72862264-C-T	c.496G>A	p.E166K	Missense	5/12	-	1
17-72862267-G-A	c.493C>T	p.P165S	Missense	5/12	-	1
17-72862271-CCC-GTT	c.487_489delinsAAC	p.G163N	Missense	5/12	-	1
17-72862272-CC-TT	c.487_488delinsAA	p.G163K	Missense	5/12	-	1
17-72862273-C-G	c.487G>C	p.G163R	Missense	5/12	-	2
17-72862273-C-T	c.487G>A	p.G163R	Missense	5/12	-	3
17-72862274-G-A	c.486C>T	p.N162=	Synonymous	5/12	-	2
17-72862275-T-C	c.485A>G	p.N162S	Missense	5/12	-	1
17-72862275-T-G	c.485A>C	p.N162T	Missense	5/12	-	1
17-72862275-TT-GC	c.484_485delinsGC	p.N162A	Missense	5/12	-	1
17-72862283-G-A	c.477C>T	p.G159=	Synonymous	5/12	-	2
17-72862284-C-T	c.476G>A	p.G159D	Missense	5/12	-	1
17-72862285-C-T	c.475G>A	p.G159S	Missense	5/12	-	1
17-72862286-CAC-AAA	c.472_474delinsTTT	p.V158F	Missense	5/12	-	1
17-72862288-C-T	c.472G>A	p.V158M	Missense	5/12	-	4
17-72862289-G-A	c.471C>T	p.F157=	Synonymous	5/12	-	3
17-72862296-C-G	c.464G>C	p.R155P	Missense	5/12	-	2
17-72862296-CG-TT	c.463_464delinsAA	p.R155K	Missense	5/12	-	1
17-72862296-C-T	c.464G>A	p.R155Q	Missense	5/12	-	3
17-72862297-G-A	c.463C>T	p.R155W	Missense	5/12	-	3
17-72862297-G-C	c.463C>G	p.R155G	Missense	5/12	-	1
17-72862299-G-A	c.461C>T	p.A154V	Missense	5/12	-	1
17-72862300-C-A	c.460G>T	p.A154S	Missense	5/12	-	3
17-72862300-C-G	c.460G>C	p.A154P	Missense	5/12	-	2
17-72862300-C-T	c.460G>A	p.A154T	Missense	5/12	-	4
17-72862301-G-A	c.459C>T	p.S153=	Synonymous	5/12	-	1
17-72862300-CGGAGCACACACCTG-C	c.446_459del	p.P149Rfs*13	Frameshift	5/12	-	1
17-72862304-G-A	c.456C>T	p.C152=	Synonymous	5/12	-	1
17-72862304-GCA-CTC	c.454_456delinsGAG	p.C152E	Missense	5/12	-	1
17-72862305-C-A	c.455G>T	p.C152F	Missense	5/12	-	1
17-72862305-C-T	c.455G>A	p.C152Y	Missense	5/12	-	2
17-72862307-C-T	c.453G>A	p.V151=	Synonymous	5/12	-	1
17-72862308-A-G	c.452T>C	p.V151A	Missense	5/12	-	1
17-72862309-C-T	c.451G>A	p.V151M	Missense	5/12	-	1
17-72862311-C-T	c.449G>A	p.G150D	Missense	5/12	-	1
17-72862316-C-A	c.444G>T	p.L148=	Synonymous	5/12	-	1
17-72862319-C-T	c.441G>A	p.E147=	Synonymous	5/12	-	1
17-72862320-T-C	c.440A>G	p.E147G	Missense	5/12	-	1
17-72862321-C-A	c.439G>T	p.E147*	Nonsense	5/12	-	1
17-72862324-C-T	c.436G>A	p.E146K	Missense	5/12	-	1
17-72862326-C-A	c.434G>T	p.G145V	Missense	5/12	-	2
17-72862326-C-T	c.434G>A	p.G145D	Missense	5/12	-	2
17-72862327-C-T	c.433G>A	p.G145S	Missense	5/12	-	1
17-72862329-G-A	c.431C>T	p.P144L	Missense	5/12	-	4
17-72862330-G-A	c.430C>T	p.P144S	Missense	5/12	-	5
17-72862330-G-T	c.430C>A	p.P144T	Missense	5/12	-	1
17-72862333-T-A	c.427A>T	p.I143F	Missense	5/12	-	2
17-72862333-T-C	c.427A>G	p.I143V	Missense	5/12	-	2
17-72862334-T-C	c.426A>G	p.E142=	Synonymous	5/12	-	1
17-72862335-T-G	c.425A>C	p.E142A	Missense	5/12	-	2
17-72862336-C-T	c.424G>A	p.E142K	Missense	5/12	-	1
17-72862338-A-G	c.422T>C	p.L141P	Missense	5/12	-	1
17-72862339-G-A	c.421C>T	p.L141=	Synonymous	5/12	-	1
17-72862339-G-T	c.421C>A	p.L141M	Missense	5/12	-	1
17-72862340-G-A	c.420C>T	p.A140=	Synonymous	5/12	-	3
17-72862341-G-A	c.419C>T	p.A140V	Missense	5/12	-	6
17-72862343-CCG-ACA	c.415_417delinsTGT	p.R139C	Missense	5/12	-	2
17-72862343-C-T	c.417G>A	p.R139=	Synonymous	5/12	-	1
17-72862344-C-A	c.416G>T	p.R139L	Missense	5/12	-	1
17-72862344-C-T	c.416G>A	p.R139Q	Missense	5/12	-	2
17-72862345-G-A	c.415C>T	p.R139W	Missense	5/12	-	2
17-72862346-A-G	c.414T>C	p.H138=	Synonymous	5/12	-	1
17-72862347-T-C	c.413A>G	p.H138R	Missense	5/12	-	1
17-72862348-G-A	c.412C>T	p.H138Y	Missense	5/12	-	4
17-72862350-T-C	c.410A>G	p.D137G	Missense	5/12	-	1
17-72862350-T-TCC	c.408_409dup	p.D137Gfs*39	Frameshift	5/12	-	1
17-72862351-C-A	c.409G>T	p.D137Y	Missense	5/12	-	1
17-72862351-C-T	c.409G>A	p.D137N	Missense	5/12	-	2
17-72862354-C-T	c.406G>A	p.E136K	Missense	5/12	-	2
17-72862355-T-C	c.405A>G	p.A135=	Synonymous	5/12	-	1
17-72862357-C-T	c.403G>A	p.A135T	Missense	5/12	-	1
17-72862359-CC-TT	c.400_401delinsAA	p.G134K	Missense	5/12	-	2
17-72862359-C-T	c.401G>A	p.G134E	Missense	5/12	-	1
17-72862360-C-A	c.400G>T	p.G134W	Missense	5/12	-	1
17-72862360-C-T	c.400G>A	p.G134R	Missense	5/12	-	3
17-72862364-G-A	c.396C>T	p.S132=	Synonymous	5/12	-	3
17-72862365-C-T	c.395G>A	p.S132N	Missense	5/12	-	1
17-72862366-T-A	c.394A>T	p.S132C	Missense	5/12	-	1
17-72862367-C-G	c.394-1G>C	-	IntronicSNV	-	4/11	1
17-72862568-C-A	c.393G>T	p.L131=	Synonymous	4/12	-	1
17-72862568-CAG-AAA	c.391_393delinsTTT	p.L131F	Missense	4/12	-	1
17-72862568-C-G	c.393G>C	p.L131=	Synonymous	4/12	-	1
17-72862568-C-T	c.393G>A	p.L131=	Synonymous	4/12	-	1
17-72862570-G-A	c.391C>T	p.L131=	Synonymous	4/12	-	1
17-72862576-C-A	c.385G>T	p.V129L	Missense	4/12	-	1
17-72862576-C-G	c.385G>C	p.V129L	Missense	4/12	-	1
17-72862578-G-A	c.383C>T	p.A128V	Missense	4/12	-	2
17-72862578-G-T	c.383C>A	p.A128D	Missense	4/12	-	1
17-72862579-C-T	c.382G>A	p.A128T	Missense	4/12	-	1
17-72862580-G-A	c.381C>T	p.H127=	Synonymous	4/12	-	1
17-72862580-G-C	c.381C>G	p.H127Q	Missense	4/12	-	1
17-72862582-G-A	c.379C>T	p.H127Y	Missense	4/12	-	1
17-72862585-A-G	c.376T>C	p.Y126H	Missense	4/12	-	1
17-72862587-G-A	c.374C>T	p.A125V	Missense	4/12	-	2
17-72862588-C-A	c.373G>T	p.A125S	Missense	4/12	-	1
17-72862588-C-T	c.373G>A	p.A125T	Missense	4/12	-	1
17-72862589-C-A	c.372G>T	p.E124D	Missense	4/12	-	1
17-72862589-C-G	c.372G>C	p.E124D	Missense	4/12	-	1
17-72862589-C-T	c.372G>A	p.E124=	Synonymous	4/12	-	1
17-72862591-C-G	c.370G>C	p.E124Q	Missense	4/12	-	1
17-72862591-C-T	c.370G>A	p.E124K	Missense	4/12	-	1
17-72862592-C-T	c.369G>A	p.Q123=	Synonymous	4/12	-	1
17-72862593-C-T	c.368G>A	p.Q123Q	Missense	4/12	-	28
17-72862596-A-G	c.365T>C	p.L122P	Missense	4/12	-	1
17-72862597-G-A	c.364C>T	p.L122=	Synonymous	4/12	-	1
17-72862598-GCTCCGGCACCGTCAC-G	c.349_363del	p.V117_E121del	InFrameDeletion	4/12	-	1
17-72862601-C-A	c.360G>T	p.P120=	Synonymous	4/12	-	2
17-72862602-G-A	c.359C>T	p.P120L	Missense	4/12	-	3
17-72862602-G-C	c.359C>G	p.P120R	Missense	4/12	-	2
17-72862602-G-T	c.359C>A	p.P120Q	Missense	4/12	-	2
17-72862605-A-G	c.356T>C	p.V119A	Missense	4/12	-	1
17-72862606-C-G	c.355G>C	p.V119L	Missense	4/12	-	1
17-72862607-C-T	c.354G>A	p.T118=	Synonymous	4/12	-	1
17-72862608-G-A	c.353C>T	p.T118M	Missense	4/12	-	2
17-72862610-CAC-GAT	c.349_351delinsATC	p.V117I	Missense	4/12	-	1
17-72862610-C-T	c.351G>A	p.V117=	Synonymous	4/12	-	1
17-72862611-A-G	c.350T>C	p.V117A	Missense	4/12	-	1
17-72862612-C-T	c.349G>A	p.V117M	Missense	4/12	-	1
17-72862613-G-A	c.348C>T	p.D116=	Synonymous	4/12	-	2
17-72862614-T-C	c.347A>G	p.D116G	Missense	4/12	-	1
17-72862617-C-G	c.344G>C	p.R115T	Missense	4/12	-	1
17-72862617-C-T	c.344G>A	p.R115K	Missense	4/12	-	4
17-72862617-CT-TG	c.343_344delinsCA	p.R115Q	Missense	4/12	-	8
17-72862618-T-C	c.343A>G	p.R115G	Missense	4/12	-	1
17-72862619-G-A	c.342C>T	p.G114=	Synonymous	4/12	-	1
17-72862619-G-C	c.342C>G	p.G114=	Synonymous	4/12	-	1
17-72862619-G-T	c.342C>A	p.G114=	Synonymous	4/12	-	1
17-72862622-C-A	c.339G>T	p.V113=	Synonymous	4/12	-	2
17-72862622-C-G	c.339G>C	p.V113=	Synonymous	4/12	-	1
17-72862622-C-T	c.339G>A	p.V113=	Synonymous	4/12	-	1
17-72862627-C-T	c.334G>A	p.E112K	Missense	4/12	-	2
17-72862630-C-T	c.331G>A	p.V111M	Missense	4/12	-	3
17-72862631-G-A	c.330C>T	p.N110=	Synonymous	4/12	-	2
17-72862635-C-G	c.326G>C	p.G109A	Missense	4/12	-	1
17-72862636-C-T	c.325G>A	p.G109S	Missense	4/12	-	1
17-72862637-C-T	c.324G>A	p.W108*	Nonsense	4/12	-	1
17-72862639-A-G	c.322T>C	p.W108R	Missense	4/12	-	1
17-72862646-A-T	c.315T>A	p.C105*	Nonsense	4/12	-	1
17-72862647-C-G	c.314G>C	p.C105S	Missense	4/12	-	3
17-72862647-C-T	c.314G>A	p.C105Y	Missense	4/12	-	4
17-72862648-A-C	c.313T>G	p.C105G	Missense	4/12	-	1
17-72862648-A-T	c.313T>A	p.C105S	Missense	4/12	-	1
17-72862650-C-A	c.311G>T	p.R104L	Missense	4/12	-	1
17-72862650-C-G	c.311G>C	p.R104P	Missense	4/12	-	1
17-72862650-C-T	c.311G>A	p.R104H	Missense	4/12	-	2
17-72862651-G-A	c.310C>T	p.R104C	Missense	4/12	-	4
17-72862651-G-C	c.310C>G	p.R104G	Missense	4/12	-	1
17-72862652-G-A	c.309C>T	p.G103=	Synonymous	4/12	-	1
17-72862653-C-A	c.308G>T	p.G103V	Missense	4/12	-	1
17-72862654-C-G	c.307G>C	p.G103R	Missense	4/12	-	1
17-72862656-G-A	c.305C>T	p.S102F	Missense	4/12	-	1
17-72862659-T-A	c.302A>T	p.H101L	Missense	4/12	-	1
17-72862659-T-C	c.302A>G	p.H101R	Missense	4/12	-	2
17-72862661-G-A	c.300C>T	p.A100=	Synonymous	4/12	-	2
17-72862661-G-C	c.300C>G	p.A100=	Synonymous	4/12	-	1
17-72862661-G-T	c.300C>A	p.A100=	Synonymous	4/12	-	1
17-72862662-G-A	c.299C>T	p.A100V	Missense	4/12	-	1
17-72862663-C-T	c.298G>A	p.A100T	Missense	4/12	-	2
17-72862664-C-A	c.297G>T	p.T99=	Synonymous	4/12	-	2
17-72862664-C-G	c.297G>C	p.T99=	Synonymous	4/12	-	1
17-72862664-C-T	c.297G>A	p.T99=	Synonymous	4/12	-	2
17-72862665-G-A	c.296C>T	p.T99M	Missense	4/12	-	4
17-72862666-T-A	c.295A>T	p.T99S	Missense	4/12	-	1
17-72862669-G-A	c.292C>T	p.Q98*	Nonsense	4/12	-	1
17-72862671-G-A	c.290C>T	p.T97I	Missense	4/12	-	1
17-72862672-T-C	c.289A>G	p.T97A	Missense	4/12	-	3
17-72862674-A-G	c.287T>C	p.F96S	Missense	4/12	-	1
17-72862673-A-C	c.288T>G	p.F96L	Missense	4/12	-	1
17-72862673-A-T	c.288T>A	p.F96L	Missense	4/12	-	1
17-72862675-A-G	c.286T>C	p.F96L	Missense	4/12	-	1
17-72862676-T-C	c.285A>G	p.T95=	Synonymous	4/12	-	1
17-72862679-G-A	c.282C>T	p.N94=	Synonymous	4/12	-	1
17-72862679-G-T	c.282C>A	p.N94K	Missense	4/12	-	1
17-72862684-T-C	c.277A>G	p.I93V	Missense	4/12	-	1
17-72862684-T-G	c.277A>C	p.I93L	Missense	4/12	-	1
17-72862686-A-T	c.275T>A	p.V92D	Missense	4/12	-	1
17-72862687-C-T	c.274G>A	p.V92I	Missense	4/12	-	1
17-72862688-CAT-C	c.272_273del	p.N91Sfs*55	SpliceAcceptorDeletion	4/12	-	1
17-72862705-G-A	c.271-15C>T	-	IntronicSNV	-	3/11	8
17-72862705-G-C	c.271-15C>G	-	IntronicSNV	-	3/11	8
17-72862809-T-C	c.270+97A>G	-	IntronicSNV	-	3/11	7
17-72862879-C-G	c.270+27G>C	-	IntronicSNV	-	3/11	2
17-72862898-A-T	c.270+8T>A	-	IntronicSNV	-	3/11	1
17-72862908-T-C	c.268A>G	p.K90E	Missense	3/12	-	1
17-72862909-C-T	c.267G>A	p.V89=	Synonymous	3/12	-	1
17-72862911-C-T	c.265G>A	p.V89M	Missense	3/12	-	1
17-72862913-T-A	c.263A>T	p.E88V	Missense	3/12	-	1
17-72862913-T-C	c.263A>G	p.E88G	Missense	3/12	-	1
17-72862914-C-T	c.262G>A	p.E88K	Missense	3/12	-	2
17-72862916-G-A	c.260C>T	p.P87L	Missense	3/12	-	1
17-72862917-G-A	c.259C>T	p.P87S	Missense	3/12	-	1
17-72862920-G-A	c.256C>T	p.H86Y	Missense	3/12	-	3
17-72862920-G-C	c.256C>G	p.H86D	Missense	3/12	-	1
17-72862922-T-C	c.254A>G	p.D85G	Missense	3/12	-	1
17-72862923-C-A	c.253G>T	p.D85Y	Missense	3/12	-	1
17-72862927-C-A	c.249G>T	p.A83=	Synonymous	3/12	-	2
17-72862927-C-G	c.249G>C	p.A83=	Synonymous	3/12	-	1
17-72862927-CGC-ACA	c.247_249delinsTGT	p.A83C	Missense	3/12	-	1
17-72862927-CG-GT	c.248_249delinsAC	p.A83D	Missense	3/12	-	1
17-72862927-C-T	c.249G>A	p.A83=	Synonymous	3/12	-	2
17-72862928-G-A	c.248C>T	p.A83V	Missense	3/12	-	3
17-72862928-G-C	c.248C>G	p.A83G	Missense	3/12	-	4
17-72862930-CAC-AAA	c.244_246delinsTTT	p.V82F	Missense	3/12	-	1
17-72862930-C-T	c.246G>A	p.V82=	Synonymous	3/12	-	1
17-72862931-AC-GA	c.244_245delinsTC	p.V82S	Missense	3/12	-	2
17-72862931-AC-GT	c.244_245inv	p.V82T	Missense	3/12	-	1
17-72862931-A-G	c.245T>C	p.V82A	Missense	3/12	-	6
17-72862932-C-A	c.244G>T	p.V82L	Missense	3/12	-	1
17-72862932-C-G	c.244G>C	p.V82L	Missense	3/12	-	1
17-72862933-A-C	c.243T>G	p.G81=	Synonymous	3/12	-	2
17-72862933-AC-CT	c.242_243delinsAG	p.G81E	Missense	3/12	-	1
17-72862933-A-G	c.243T>C	p.G81=	Synonymous	3/12	-	2
17-72862933-A-T	c.243T>A	p.G81=	Synonymous	3/12	-	2
17-72862938-A-C	c.238T>G	p.F80V	Missense	3/12	-	1
17-72862939-GC-TT	c.236_237delinsAA	p.R79Q	Missense	3/12	-	1
17-72862940-C-T	c.236G>A	p.R79H	Missense	3/12	-	3
17-72862941-G-A	c.235C>T	p.R79C	Missense	3/12	-	3
17-72862943-A-G	c.233T>C	p.V78A	Missense	3/12	-	3
17-72862944-C-A	c.232G>T	p.V78L	Missense	3/12	-	1
17-72862944-C-T	c.232G>A	p.V78M	Missense	3/12	-	1
17-72862945-C-A	c.231G>T	p.L77=	Synonymous	3/12	-	1
17-72862945-C-G	c.231G>C	p.L77=	Synonymous	3/12	-	1
17-72862945-C-T	c.231G>A	p.L77=	Synonymous	3/12	-	1
17-72862947-G-A	c.229C>T	p.L77=	Synonymous	3/12	-	1
17-72862948-G-A	c.228C>T	p.G76=	Synonymous	3/12	-	1
17-72862951-A-G	c.225T>C	p.F75=	Synonymous	3/12	-	1
17-72862952-A-G	c.224T>C	p.F75S	Missense	3/12	-	1
17-72862954-G-A	c.222C>T	p.P74=	Synonymous	3/12	-	2
17-72862954-G-C	c.222C>G	p.P74=	Synonymous	3/12	-	1
17-72862954-G-T	c.222C>A	p.P74=	Synonymous	3/12	-	1
17-72862955-G-A	c.221C>T	p.P74L	Missense	3/12	-	2
17-72862958-A-G	c.218T>C	p.V73A	Missense	3/12	-	3
17-72862959-C-A	c.217G>T	p.V73L	Missense	3/12	-	1
17-72862961-G-C	c.215C>G	p.P72R	Missense	3/12	-	1
17-72862962-G-A	c.214C>T	p.P72S	Missense	3/12	-	2
17-72862964-T-C	c.212A>G	p.Q71R	Missense	3/12	-	5
17-72862966-T-A	c.210A>T	p.K70N	Missense	3/12	-	1
17-72862966-T-G	c.210A>C	p.K70N	Missense	3/12	-	1
17-72862967-T-C	c.209A>G	p.K70R	Missense	3/12	-	24
17-72862967-T-G	c.209A>C	p.K70T	Missense	3/12	-	2
17-72862967-TT-CC	c.208_209delinsGG	p.K70G	Missense	3/12	-	1
17-72862968-T-A	c.208A>T	p.K70*	Nonsense	3/12	-	1
17-72862968-T-C	c.208A>G	p.K70E	Missense	3/12	-	6
17-72862968-T-G	c.208A>C	p.K70Q	Missense	3/12	-	3
17-72862971-C-T	c.205G>A	p.E69K	Missense	3/12	-	5
17-72862972-G-A	c.204C>T	p.Y68=	Synonymous	3/12	-	1
17-72862974-A-G	c.202T>C	p.Y68H	Missense	3/12	-	1
17-72862975-G-T	c.201C>A	p.I67=	Synonymous	3/12	-	1
17-72862978-G-A	c.198C>T	p.D66=	Synonymous	3/12	-	1
17-72862978-G-GT	c.197dup	p.D66Efs*20	Frameshift	3/12	-	1
17-72862980-C-A	c.196G>T	p.D66Y	Missense	3/12	-	2
17-72862981-CAC-GTT	c.193_195delinsAAC	p.V65N	Missense	3/12	-	1
17-72862983-AC-A	c.193del	p.V65Wfs*25	Frameshift	3/12	-	1
17-72862983-C-T	c.193G>A	p.V65M	Missense	3/12	-	1
17-72862984-G-A	c.192C>T	p.H64=	Synonymous	3/12	-	1
17-72862985-TG-GC	c.190_191delinsGC	p.H64A	Missense	3/12	-	1
17-72862988-G-A	c.188C>T	p.A63V	Missense	3/12	-	1
17-72862989-C-A	c.187G>T	p.A63S	Missense	3/12	-	1
17-72862990-C-A	c.186G>T	p.Q62H	Missense	3/12	-	1
17-72862990-C-G	c.186G>C	p.Q62H	Missense	3/12	-	1
17-72862990-C-T	c.186G>A	p.Q62=	Synonymous	3/12	-	1
17-72862992-G-T	c.184C>A	p.Q62K	Missense	3/12	-	1
17-72862993-G-A	c.183C>T	p.P61=	Synonymous	3/12	-	1
17-72862993-GG-TT	c.182_183delinsAA	p.P61Q	Missense	3/12	-	1
17-72862994-G-A	c.182C>T	p.P61L	Missense	3/12	-	2
17-72862994-G-C	c.182C>G	p.P61R	Missense	3/12	-	1
17-72862994-GG-AA	c.181_182delinsTT	p.P61F	Missense	3/12	-	3
17-72862995-G-A	c.181C>T	p.P61S	Missense	3/12	-	1
17-72862996-G-T	c.180C>A	p.H60Q	Missense	3/12	-	1
17-72863030-T-C	c.178-32A>G	-	IntronicSNV	-	2/11	22
17-72863030-T-G	c.178-32A>C	-	IntronicSNV	-	2/11	22
17-72863167-G-A	c.178-169C>T	-	IntronicSNV	-	2/11	1
17-72863167-G-T	c.178-169C>A	-	IntronicSNV	-	2/11	1
17-72863198-G-A	c.178-200C>T	-	IntronicSNV	-	2/11	1
17-72863208-A-C	c.178-210T>G	-	IntronicSNV	-	2/11	1
17-72863278-A-G	c.178-280T>C	-	IntronicSNV	-	2/11	2
17-72863278-A-T	c.178-280T>A	-	IntronicSNV	-	2/11	2
17-72863984-C-T	c.178-986G>A	-	IntronicSNV	-	2/11	1
17-72864407-C-T	c.178-1409G>A	-	IntronicSNV	-	2/11	3
17-72864704-A-G	c.178-1706T>C	-	IntronicSNV	-	2/11	1
17-72864747-G-A	c.178-1749C>T	-	IntronicSNV	-	2/11	2
17-72864768-A-G	c.178-1770T>C	-	IntronicSNV	-	2/11	8
17-72864887-C-T	c.178-1889G>A	-	IntronicSNV	-	2/11	1
17-72865239-C-T	c.178-2241G>A	-	IntronicSNV	-	2/11	1
17-72865762-A-G	c.177+2399T>C	-	IntronicSNV	-	2/11	1
17-72865935-C-G	c.177+2226G>C	-	IntronicSNV	-	2/11	1
17-72866077-G-T	c.177+2084C>A	-	IntronicSNV	-	2/11	1
17-72866141-G-C	c.177+2020C>G	-	IntronicSNV	-	2/11	1
17-72867982-G-A	c.177+179C>T	-	IntronicSNV	-	2/11	2
17-72868160-C-A	c.177+1G>T	-	IntronicSNV	-	2/11	1
17-72868161-C-T	c.177G>A	p.K59=	Synonymous	2/12	-	1
17-72868163-T-C	c.175A>G	p.K59E	Missense	2/12	-	1
17-72868164-TAG-CCA	c.172_174delinsTGG	p.L58W	Missense	2/12	-	2
17-72868166-G-C	c.172C>G	p.L58V	Missense	2/12	-	2
17-72868170-G-T	c.168C>A	p.H56Q	Missense	2/12	-	1
17-72868173-T-C	c.165A>G	p.Q55=	Synonymous	2/12	-	1
17-72868174-T-C	c.164A>G	p.Q55R	Missense	2/12	-	1
17-72868174-TG-GC	c.163_164delinsGC	p.Q55A	Missense	2/12	-	1
17-72868175-G-T	c.163C>A	p.Q55K	Missense	2/12	-	1
17-72868176-GG-CT	c.161_162delinsAG	p.A54E	Missense	2/12	-	1
17-72868177-GC-AG	c.160_161delinsCT	p.A54L	Missense	2/12	-	1
17-72868178-C-T	c.160G>A	p.A54T	Missense	2/12	-	1
17-72868177-G-GC	c.160dup	p.A54Gfs*32	Frameshift	2/12	-	1
17-72868179-CG-GA	c.158_159delinsTC	p.T53I	Missense	2/12	-	1
17-72868179-C-T	c.159G>A	p.T53=	Synonymous	2/12	-	2
17-72868180-G-A	c.158C>T	p.T53M	Missense	2/12	-	4
17-72868183-T-C	c.155A>G	p.Y52C	Missense	2/12	-	3
17-72868187-A-C	c.151T>G	p.F51V	Missense	2/12	-	5
17-72868187-A-G	c.151T>C	p.F51L	Missense	2/12	-	2
17-72868188-G-A	c.150C>T	p.G50=	Synonymous	2/12	-	3
17-72868189-C-G	c.149G>C	p.G50A	Missense	2/12	-	1
17-72868191-A-G	c.147T>C	p.A49=	Synonymous	2/12	-	1
17-72868192-GC-CA	c.145_146delinsTG	p.A49C	Missense	2/12	-	1
17-72868194-T-C	c.144A>G	p.P48=	Synonymous	2/12	-	1
17-72868196-G-A	c.142C>T	p.P48S	Missense	2/12	-	2
17-72868197-G-A	c.141C>T	p.G47=	Synonymous	2/12	-	2
17-72868197-G-C	c.141C>G	p.G47=	Synonymous	2/12	-	2
17-72868197-G-T	c.141C>A	p.G47=	Synonymous	2/12	-	2
17-72868198-C-G	c.140G>C	p.G47A	Missense	2/12	-	1
17-72868199-C-T	c.139G>A	p.G47S	Missense	2/12	-	2
17-72868201-C-T	c.137G>A	p.S46N	Missense	2/12	-	1
17-72868202-T-C	c.136A>G	p.S46G	Missense	2/12	-	1
17-72868209-C-CT	c.128_129insA	p.V44Gfs*42	Frameshift	2/12	-	1
17-72868210-A-G	c.128T>C	p.V43A	Missense	2/12	-	1
17-72868211-C-A	c.127G>T	p.V43L	Missense	2/12	-	1
17-72868211-C-T	c.127G>A	p.V43M	Missense	2/12	-	1
17-72868213-C-A	c.125G>T	p.C42F	Missense	2/12	-	2
17-72868213-C-G	c.125G>C	p.C42S	Missense	2/12	-	1
17-72868214-A-T	c.124T>A	p.C42S	Missense	2/12	-	1
17-72868215-G-A	c.123C>T	p.I41=	Synonymous	2/12	-	1
17-72868215-G-C	c.123C>G	p.I41M	Missense	2/12	-	2
17-72868218-C-A	c.120G>T	p.Q40H	Missense	2/12	-	4
17-72868218-C-G	c.120G>C	p.Q40H	Missense	2/12	-	2
17-72868218-C-T	c.120G>A	p.Q40=	Synonymous	2/12	-	1
17-72868219-T-C	c.119A>G	p.Q40R	Missense	2/12	-	1
17-72868220-G-C	c.118C>G	p.Q40E	Missense	2/12	-	2
17-72868223-G-A	c.115C>T	p.P39S	Missense	2/12	-	2
17-72868224-G-A	c.114C>T	p.T38=	Synonymous	2/12	-	1
17-72868219-T-TG	c.118dup	p.Q40Pfs*46	Frameshift	2/12	-	1
17-72868225-G-A	c.113C>T	p.T38I	Missense	2/12	-	2
17-72868225-G-T	c.113C>A	p.T38N	Missense	2/12	-	1
17-72868226-T-C	c.112A>G	p.T38A	Missense	2/12	-	1
17-72868232-C-T	c.106G>A	p.E36K	Missense	2/12	-	1
17-72868233-C-A	c.105G>T	p.Q35H	Missense	2/12	-	2
17-72868233-C-G	c.105G>C	p.Q35H	Missense	2/12	-	2
17-72868235-G-A	c.103C>T	p.Q35*	Nonsense	2/12	-	2
17-72868235-G-C	c.103C>G	p.Q35E	Missense	2/12	-	2
17-72868236-T-A	c.102A>T	p.T34=	Synonymous	2/12	-	2
17-72868236-T-C	c.102A>G	p.T34=	Synonymous	2/12	-	2
17-72868236-T-G	c.102A>C	p.T34=	Synonymous	2/12	-	2
17-72868237-G-A	c.101C>T	p.T34I	Missense	2/12	-	2
17-72868238-T-C	c.100A>G	p.T34A	Missense	2/12	-	1
17-72868239-G-A	c.99C>T	p.S33=	Synonymous	2/12	-	1
17-72868239-G-C	c.99C>G	p.S33=	Synonymous	2/12	-	1
17-72868239-G-T	c.99C>A	p.S33=	Synonymous	2/12	-	1
17-72868240-G-A	c.98C>T	p.S33F	Missense	2/12	-	1
17-72868240-G-T	c.98C>A	p.S33Y	Missense	2/12	-	1
17-72868242-GA-TT	c.95_96delinsAA	p.F32*	Nonsense	2/12	-	1
17-72868243-AA-CC	c.94_95delinsGG	p.F32G	Missense	2/12	-	1
17-72868242-G-C	c.96C>G	p.F32L	Missense	2/12	-	1
17-72868242-G-T	c.96C>A	p.F32L	Missense	2/12	-	1
17-72868244-A-G	c.94T>C	p.F32L	Missense	2/12	-	1
17-72868246-T-C	c.92A>G	p.H31R	Missense	2/12	-	3
17-72868246-TG-GC	c.91_92delinsGC	p.H31A	Missense	2/12	-	1
17-72868248-G-A	c.90C>T	p.H30=	Synonymous	2/12	-	1
17-72868249-T-C	c.89A>G	p.H30R	Missense	2/12	-	1
17-72868249-TG-GC	c.88_89delinsGC	p.H30A	Missense	2/12	-	1
17-72868250-G-A	c.88C>T	p.H30Y	Missense	2/12	-	1
17-72868251-G-A	c.87C>T	p.C29=	Synonymous	2/12	-	1
17-72868253-A-G	c.85T>C	p.C29R	Missense	2/12	-	1
17-72868256-A-C	c.82T>G	p.F28V	Missense	2/12	-	1
17-72868258-C-T	c.80G>A	p.S27N	Missense	2/12	-	1
17-72868322-C-A	c.80-64G>T	-	IntronicSNV	-	1/11	1
17-72868322-C-T	c.80-64G>A	-	IntronicSNV	-	1/11	1
17-72868323-C-T	c.80-65G>A	-	IntronicSNV	-	1/11	1
17-72868325-G-A	c.80-67C>T	-	IntronicSNV	-	1/11	3
17-72868325-G-C	c.80-67C>G	-	IntronicSNV	-	1/11	3
17-72868335-C-T	c.80-77G>A	-	IntronicSNV	-	1/11	1
17-72868392-C-CT	c.80-135_80-134insA	-	IntronicInsertion	-	1/11	1
17-72868442-C-T	c.80-184G>A	-	IntronicSNV	-	1/11	1
17-72868492-T-C	c.80-234A>G	-	IntronicSNV	-	1/11	2
17-72868699-T-C	c.79+292A>G	-	IntronicSNV	-	1/11	1
17-72868912-C-T	c.79+79G>A	-	IntronicSNV	-	1/11	1
17-72868990-C-T	c.79+1G>A	-	IntronicSNV	-	1/11	1
17-72868991-T-G	c.79A>C	p.S27R	Missense	1/12	-	1
17-72868993-G-T	c.77C>A	p.P26Q	Missense	1/12	-	2
17-72868995-G-A	c.75C>T	p.T25=	Synonymous	1/12	-	1
17-72868995-GGT-CCA	c.73_75delinsTGG	p.T25W	Missense	1/12	-	1
17-72868996-G-A	c.74C>T	p.T25I	Missense	1/12	-	1
17-72868998-G-A	c.72C>T	p.S24=	Synonymous	1/12	-	2
17-72868999-CT-GC	c.70_71delinsGC	p.S24A	Missense	1/12	-	1
17-72868999-CT-TC	c.70_71delinsGA	p.S24D	Missense	1/12	-	1
17-72869001-C-A	c.69G>T	p.G23=	Synonymous	1/12	-	1
17-72869001-CCC-GCT	c.67_69delinsAGC	p.G23S	Missense	1/12	-	1
17-72869001-C-G	c.69G>C	p.G23=	Synonymous	1/12	-	1
17-72869001-C-T	c.69G>A	p.G23=	Synonymous	1/12	-	1
17-72869002-C-A	c.68G>T	p.G23V	Missense	1/12	-	1
17-72869003-C-A	c.67G>T	p.G23W	Missense	1/12	-	1
17-72869003-C-T	c.67G>A	p.G23R	Missense	1/12	-	1
17-72869004-G-A	c.66C>T	p.A22=	Synonymous	1/12	-	1
17-72869004-G-C	c.66C>G	p.A22=	Synonymous	1/12	-	1
17-72869004-G-T	c.66C>A	p.A22=	Synonymous	1/12	-	1
17-72869005-G-A	c.65C>T	p.A22V	Missense	1/12	-	1
17-72869005-GC-AA	c.64_65delinsTT	p.A22F	Missense	1/12	-	1
17-72869005-GC-CA	c.64_65delinsTG	p.A22C	Missense	1/12	-	1
17-72869006-C-T	c.64G>A	p.A22T	Missense	1/12	-	3
17-72869007-G-A	c.63C>T	p.P21=	Synonymous	1/12	-	1
17-72869007-G-C	c.63C>G	p.P21=	Synonymous	1/12	-	1
17-72869007-GGG-CAT	c.61_63delinsATG	p.P21M	Missense	1/12	-	1
17-72869007-G-T	c.63C>A	p.P21=	Synonymous	1/12	-	1
17-72869008-GG-CA	c.61_62delinsTG	p.P21C	Missense	1/12	-	1
17-72869009-G-A	c.61C>T	p.P21S	Missense	1/12	-	2
17-72869009-G-C	c.61C>G	p.P21A	Missense	1/12	-	1
17-72869010-A-C	c.60T>G	p.P20=	Synonymous	1/12	-	1
17-72869010-A-G	c.60T>C	p.P20=	Synonymous	1/12	-	1
17-72869010-A-T	c.60T>A	p.P20=	Synonymous	1/12	-	1
17-72869009-GAGGCAGCCGGGTCCGAGGCCACGCCGACC-G	c.32_60del	p.W11Sfs*65	Frameshift	1/12	-	1
17-72869012-G-A	c.58C>T	p.P20S	Missense	1/12	-	1
17-72869013-GC-G	c.57del	p.P20Lfs*39	Frameshift	1/12	-	1
17-72869014-A-C	c.56T>G	p.L19R	Missense	1/12	-	1
17-72869014-A-G	c.56T>C	p.L19P	Missense	1/12	-	1
17-72869016-CC-AT	c.53_54delinsAT	p.R18H	Missense	1/12	-	1
17-72869016-CCG-AAA	c.52_54delinsTTT	p.R18F	Missense	1/12	-	1
17-72869016-CCG-ACA	c.52_54delinsTGT	p.R18C	Missense	1/12	-	1
17-72869016-CCG-GAT	c.52_54delinsATC	p.R18I	Missense	1/12	-	1
17-72869016-CCG-GTC	c.52_54delinsGAC	p.R18D	Missense	1/12	-	1
17-72869017-CG-GC	c.52_53delinsGC	p.R18A	Missense	1/12	-	1
17-72869017-CG-TC	c.52_53delinsGA	p.R18E	Missense	1/12	-	1
17-72869017-CG-TT	c.52_53delinsAA	p.R18K	Missense	1/12	-	1
17-72869017-C-T	c.53G>A	p.R18Q	Missense	1/12	-	2
17-72869018-G-C	c.52C>G	p.R18G	Missense	1/12	-	1
17-72869020-G-A	c.50C>T	p.T17I	Missense	1/12	-	1
17-72869022-CC-AT	c.47_48delinsAT	p.R16H	Missense	1/12	-	1
17-72869022-CCG-GAT	c.46_48delinsATC	p.R16I	Missense	1/12	-	1
17-72869023-CG-TT	c.46_47delinsAA	p.R16K	Missense	1/12	-	1
17-72869023-C-T	c.47G>A	p.R16Q	Missense	1/12	-	1
17-72869022-C-A	c.48G>T	p.R16=	Synonymous	1/12	-	3
17-72869022-C-G	c.48G>C	p.R16=	Synonymous	1/12	-	3
17-72869022-C-T	c.48G>A	p.R16=	Synonymous	1/12	-	3
17-72869024-G-C	c.46C>G	p.R16G	Missense	1/12	-	7
17-72869024-G-T	c.46C>A	p.R16=	Synonymous	1/12	-	4
17-72869026-G-T	c.44C>A	p.P15H	Missense	1/12	-	1
17-72869027-G-A	c.43C>T	p.P15S	Missense	1/12	-	1
17-72869027-G-C	c.43C>G	p.P15A	Missense	1/12	-	4
17-72869028-C-A	c.42G>T	p.W14C	Missense	1/12	-	1
17-72869028-C-G	c.42G>C	p.W14C	Missense	1/12	-	1
17-72869031-C-A	c.39G>T	p.A13=	Synonymous	1/12	-	1
17-72869031-C-G	c.39G>C	p.A13=	Synonymous	1/12	-	1
17-72869031-C-T	c.39G>A	p.A13=	Synonymous	1/12	-	1
17-72869032-GC-CA	c.37_38delinsTG	p.A13W	Missense	1/12	-	1
17-72869032-G-T	c.38C>A	p.A13E	Missense	1/12	-	1
17-72869033-C-G	c.37G>C	p.A13P	Missense	1/12	-	1
17-72869034-CG-AC	c.35_36delinsGT	p.S12C	Missense	1/12	-	4
17-72869034-CGA-GTC	c.34_36delinsGAC	p.S12D	Missense	1/12	-	3
17-72869034-C-T	c.36G>A	p.S12=	Synonymous	1/12	-	1
17-72869035-G-A	c.35C>T	p.S12L	Missense	1/12	-	1
17-72869035-GA-CC	c.34_35delinsGG	p.S12G	Missense	1/12	-	2
17-72869035-GA-TC	c.34_35inv	p.S12E	Missense	1/12	-	2
17-72869036-A-C	c.34T>G	p.S12A	Missense	1/12	-	8
17-72869039-A-G	c.31T>C	p.W11R	Missense	1/12	-	1
17-72869041-C-A	c.29G>T	p.G10V	Missense	1/12	-	1
17-72869043-C-T	c.27G>A	p.W9*	Nonsense	1/12	-	1
17-72869046-C-A	c.24G>T	p.W8C	Missense	1/12	-	1
17-72869046-C-G	c.24G>C	p.W8C	Missense	1/12	-	1
17-72869048-A-G	c.22T>C	p.W8R	Missense	1/12	-	1
17-72869050-C-A	c.20G>T	p.R7L	Missense	1/12	-	5
17-72869050-C-T	c.20G>A	p.R7H	Missense	1/12	-	3
17-72869051-G-A	c.19C>T	p.R7C	Missense	1/12	-	1
17-72869051-G-C	c.19C>G	p.R7G	Missense	1/12	-	1
17-72869055-G-A	c.15C>T	p.C5=	Synonymous	1/12	-	2
17-72869056-C-T	c.14G>A	p.C5Y	Missense	1/12	-	1
17-72869057-A-G	c.13T>C	p.C5R	Missense	1/12	-	1
17-72869057-A-T	c.13T>A	p.C5S	Missense	1/12	-	1
17-72869058-G-A	c.12C>T	p.R4=	Synonymous	1/12	-	2
17-72869058-G-C	c.12C>G	p.R4=	Synonymous	1/12	-	2
17-72869058-G-T	c.12C>A	p.R4=	Synonymous	1/12	-	2
17-72869059-C-T	c.11G>A	p.R4H	Missense	1/12	-	1
17-72869061-C-A	c.9G>T	p.S3=	Synonymous	1/12	-	1
17-72869061-C-G	c.9G>C	p.S3=	Synonymous	1/12	-	1
17-72869061-C-T	c.9G>A	p.S3=	Synonymous	1/12	-	1
17-72869062-G-A	c.8C>T	p.S3L	Missense	1/12	-	2
17-72869063-A-T	c.7T>A	p.S3T	Missense	1/12	-	1
17-72869064-A-C	c.6T>G	p.A2=	Synonymous	1/12	-	2
17-72869064-A-G	c.6T>C	p.A2=	Synonymous	1/12	-	3
17-72869064-A-T	c.6T>A	p.A2=	Synonymous	1/12	-	2
17-72869065-G-A	c.5C>T	p.A2V	Missense	1/12	-	5
17-72869065-G-C	c.5C>G	p.A2G	Missense	1/12	-	1
17-72869067-C-T	c.3G>A	p.M1?	Missense	1/12	-	1
17-72869069-T-A	c.1A>T	p.M1?	Missense	1/12	-	1
17-72869069-T-C	c.1A>G	p.M1?	Missense	1/12	-	1
17-72869069-T-G	c.1A>C	p.M1?	Missense	1/12	-	1
17-72869078-A-G	c.-9T>C	-	5-UTRSNV	1/12	-	11
17-72869085-C-T	c.-16G>A	-	5-UTRSNV	1/12	-	1
17-72869106-A-G	c.-37T>C	-	5-UTRSNV	1/12	-	5