MST1R

MST1R macrophage stimulating 1 receptor

Annotation transcript: NM_002447.4

1760 unique variant annotations were identified in 1040 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
3-49924485-G-T c.*255C>A - 3-UTRSNV 20/20 - 1
3-49924740-T-A c.4203A>T p.*1401Cext*9 Missense 20/20 - 1
3-49924741-C-T c.4202G>A p.*1401= Synonymous 20/20 - 1
3-49924745-T-A c.4198A>T p.T1400S Missense 20/20 - 1
3-49924747-G-A c.4196C>T p.P1399L Missense 20/20 - 1
3-49924751-G-A c.4192C>T p.R1398W Missense 20/20 - 1
3-49924760-C-G c.4183G>C p.E1395Q Missense 20/20 - 1
3-49924760-C-T c.4183G>A p.E1395K Missense 20/20 - 1
3-49924762-G-A c.4181C>T p.S1394L Missense 20/20 - 2
3-49924763-A-C c.4180T>G p.S1394A Missense 20/20 - 1
3-49924763-A-T c.4180T>A p.S1394T Missense 20/20 - 1
3-49924765-A-T c.4178T>A p.L1393H Missense 20/20 - 1
3-49924770-C-T c.4173G>A p.R1391= Synonymous 20/20 - 1
3-49924771-C-T c.4172G>A p.R1391Q Missense 20/20 - 8
3-49924772-G-A c.4171C>T p.R1391W Missense 20/20 - 3
3-49924777-C-T c.4166G>A p.R1389Q Missense 20/20 - 5
3-49924778-G-A c.4165C>T p.R1389W Missense 20/20 - 3
3-49924780-C-T c.4163G>A p.R1388H Missense 20/20 - 2
3-49924781-G-A c.4162C>T p.R1388C Missense 20/20 - 3
3-49924787-T-A c.4156A>T p.N1386Y Missense 20/20 - 1
3-49924788-C-A c.4155G>T p.G1385= Synonymous 20/20 - 1
3-49924788-C-T c.4155G>A p.G1385= Synonymous 20/20 - 1
3-49924789-C-A c.4154G>T p.G1385V Missense 20/20 - 2
3-49924789-C-G c.4154G>C p.G1385A Missense 20/20 - 1
3-49924790-C-G c.4153G>C p.G1385R Missense 20/20 - 1
3-49924792-G-C c.4151C>G p.P1384R Missense 20/20 - 1
3-49924797-G-A c.4146C>T p.P1382= Synonymous 20/20 - 1
3-49924797-G-C c.4146C>G p.P1382= Synonymous 20/20 - 1
3-49924797-G-T c.4146C>A p.P1382= Synonymous 20/20 - 1
3-49924801-G-A c.4142C>T p.S1381L Missense 20/20 - 2
3-49924801-G-T c.4142C>A p.S1381* Nonsense 20/20 - 1
3-49924804-A-C c.4139T>G p.F1380C Missense 20/20 - 1
3-49924809-C-G c.4134G>C p.P1378= Synonymous 20/20 - 2
3-49924809-C-T c.4134G>A p.P1378= Synonymous 20/20 - 1
3-49924810-G-A c.4133C>T p.P1378L Missense 20/20 - 3
3-49924812-C-G c.4131G>C p.Q1377H Missense 20/20 - 1
3-49924812-C-T c.4131G>A p.Q1377= Synonymous 20/20 - 3
3-49924814-G-A c.4129C>T p.Q1377* Nonsense 20/20 - 1
3-49924820-G-A c.4123C>T p.P1375S Missense 20/20 - 1
3-49924820-G-T c.4123C>A p.P1375T Missense 20/20 - 1
3-49924821-ACG-CCA c.4120_4122delinsTGG p.R1374W Missense 20/20 - 1
3-49924822-C-T c.4121G>A p.R1374H Missense 20/20 - 2
3-49924823-G-A c.4120C>T p.R1374C Missense 20/20 - 3
3-49924827-A-G c.4116T>C p.N1372= Synonymous 20/20 - 1
3-49924828-T-A c.4115A>T p.N1372I Missense 20/20 - 1
3-49924830-C-A c.4113G>T p.M1371I Missense 20/20 - 2
3-49924830-C-G c.4113G>C p.M1371I Missense 20/20 - 1
3-49924830-C-T c.4113G>A p.M1371I Missense 20/20 - 2
3-49924835-C-A c.4108G>T p.E1370* Nonsense 20/20 - 1
3-49924839-C-G c.4104G>C p.S1368= Synonymous 20/20 - 1
3-49924840-G-A c.4103C>T p.S1368L Missense 20/20 - 2
3-49924840-G-T c.4103C>A p.S1368* Nonsense 20/20 - 2
3-49924847-T-A c.4096A>T p.S1366C Missense 20/20 - 1
3-49924849-G-T c.4094C>A p.P1365H Missense 20/20 - 3
3-49924852-C-T c.4091G>A p.G1364D Missense 20/20 - 1
3-49924853-C-A c.4090G>T p.G1364C Missense 20/20 - 1
3-49924860-C-A c.4083G>T p.M1361I Missense 20/20 - 4
3-49924860-C-G c.4083G>C p.M1361I Missense 20/20 - 3
3-49924860-C-T c.4083G>A p.M1361I Missense 20/20 - 5
3-49924861-A-G c.4082T>C p.M1361T Missense 20/20 - 1
3-49924862-T-C c.4081A>G p.M1361V Missense 20/20 - 1
3-49924864-T-A c.4079A>T p.Y1360F Missense 20/20 - 2
3-49924864-T-C c.4079A>G p.Y1360C Missense 20/20 - 2
3-49924868-T-C c.4075A>G p.T1359A Missense 20/20 - 1
3-49924877-G-C c.4066C>G p.L1356V Missense 20/20 - 1
3-49924878-CTG-GTT c.4063_4065delinsAAC p.Q1355N Missense 20/20 - 1
3-49924885-T-A c.4058A>T p.Y1353F Missense 20/20 - 2
3-49924889-G-A c.4054C>T p.H1352Y Missense 20/20 - 2
3-49924906-G-A c.4037C>T p.S1346F Missense 20/20 - 1
3-49924910-C-A c.4033G>T p.V1345L Missense 20/20 - 1
3-49924910-C-T c.4033G>A p.V1345M Missense 20/20 - 1
3-49924915-T-A c.4028A>T p.Q1343L Missense 20/20 - 2
3-49924919-C-G c.4024G>C p.E1342Q Missense 20/20 - 2
3-49924922-C-T c.4021G>A p.V1341M Missense 20/20 - 2
3-49924925-C-A c.4018G>T p.E1340* Nonsense 20/20 - 2
3-49924925-C-T c.4018G>A p.E1340K Missense 20/20 - 2
3-49924927-C-T c.4016G>A p.G1339E Missense 20/20 - 2
3-49924929-C-A c.4014G>T p.V1338= Synonymous 20/20 - 1
3-49924929-C-G c.4014G>C p.V1338= Synonymous 20/20 - 1
3-49924929-C-T c.4014G>A p.V1338= Synonymous 20/20 - 1
3-49924938-T-C c.4005A>G p.R1335= Synonymous 20/20 - 1
3-49924940-T-G c.4003A>C p.R1335= Synonymous 20/20 - 1
3-49924939-C-T c.4004G>A p.R1335K Missense 20/20 - 1
3-49924940-T-C c.4003A>G p.R1335G Missense 20/20 - 37
3-49924941-G-A c.4002C>T p.F1334= Synonymous 20/20 - 1
3-49924944-G-A c.3999C>T p.T1333= Synonymous 20/20 - 2
3-49924947-G-A c.3996C>T p.P1332= Synonymous 20/20 - 3
3-49924951-C-T c.3992G>A p.R1331Q Missense 20/20 - 4
3-49924952-G-A c.3991C>T p.R1331* Nonsense 20/20 - 2
3-49924957-G-T c.3986C>A p.A1329E Missense 20/20 - 1
3-49924960-G-A c.3983C>T p.P1328L Missense 20/20 - 1
3-49924960-G-C c.3983C>G p.P1328R Missense 20/20 - 1
3-49924961-G-A c.3982C>T p.P1328S Missense 20/20 - 1
3-49924962-G-A c.3981C>T p.D1327= Synonymous 20/20 - 1
3-49924964-C-G c.3979G>C p.D1327H Missense 20/20 - 1
3-49924967-C-T c.3976G>A p.A1326T Missense 20/20 - 1
3-49924970-C-G c.3973G>C p.E1325Q Missense 20/20 - 1
3-49924970-C-T c.3973G>A p.E1325K Missense 20/20 - 1
3-49924977-T-C c.3966A>G p.Q1322= Synonymous 20/20 - 1
3-49924989-T-A c.3954A>T p.Q1318H Missense 20/20 - 1
3-49924989-T-G c.3954A>C p.Q1318H Missense 20/20 - 1
3-49925250-A-G c.3948-255T>C - IntronicSNV - 19/19 1
3-49926613-C-G c.3947+744G>C - IntronicSNV - 19/19 3
3-49927242-C-A c.3947+115G>T - IntronicSNV - 19/19 1
3-49927306-C-T c.3947+51G>A - IntronicSNV - 19/19 2
3-49927346-C-A c.3947+11G>T - IntronicSNV - 19/19 1
3-49927360-G-A c.3944C>T p.S1315F Missense 19/20 - 1
3-49927362-A-G c.3942T>C p.D1314= Synonymous 19/20 - 1
3-49927372-T-C c.3932A>G p.Y1311C Missense 19/20 - 1
3-49927372-T-G c.3932A>C p.Y1311S Missense 19/20 - 1
3-49927384-G-T c.3920C>A p.P1307H Missense 19/20 - 1
3-49927385-G-A c.3919C>T p.P1307S Missense 19/20 - 1
3-49927393-C-A c.3911G>T p.R1304L Missense 19/20 - 1
3-49927393-C-T c.3911G>A p.R1304Q Missense 19/20 - 1
3-49927396-C-T c.3908G>A p.G1303D Missense 19/20 - 1
3-49927398-C-G c.3906G>C p.Q1302H Missense 19/20 - 1
3-49927402-G-A c.3902C>T p.A1301V Missense 19/20 - 1
3-49927403-C-A c.3901G>T p.A1301S Missense 19/20 - 1
3-49927403-C-T c.3901G>A p.A1301T Missense 19/20 - 1
3-49927404-C-T c.3900G>A p.L1300= Synonymous 19/20 - 2
3-49927407-G-A c.3897C>T p.F1299= Synonymous 19/20 - 1
3-49927413-G-A c.3891C>T p.T1297= Synonymous 19/20 - 1
3-49927413-G-C c.3891C>G p.T1297= Synonymous 19/20 - 1
3-49927413-G-T c.3891C>A p.T1297= Synonymous 19/20 - 2
3-49927419-G-C c.3885C>G p.D1295E Missense 19/20 - 1
3-49927420-T-C c.3884A>G p.D1295G Missense 19/20 - 1
3-49927421-C-G c.3883G>C p.D1295H Missense 19/20 - 4
3-49927421-C-T c.3883G>A p.D1295N Missense 19/20 - 3
3-49927426-G-T c.3878C>A p.P1293H Missense 19/20 - 1
3-49927427-G-A c.3877C>T p.P1293S Missense 19/20 - 1
3-49927430-C-G c.3874G>C p.D1292H Missense 19/20 - 3
3-49927430-C-T c.3874G>A p.D1292N Missense 19/20 - 1
3-49927433-T-C c.3871A>G p.I1291V Missense 19/20 - 1
3-49927435-T-C c.3869A>G p.H1290R Missense 19/20 - 1
3-49927438-C-T c.3866G>A p.R1289H Missense 19/20 - 2
3-49927453-C-G c.3851G>C p.G1284A Missense 19/20 - 1
3-49927455-C-T c.3849G>A p.R1283= Synonymous 19/20 - 1
3-49927456-C-A c.3848G>T p.R1283L Missense 19/20 - 1
3-49927456-C-T c.3848G>A p.R1283Q Missense 19/20 - 2
3-49927457-G-A c.3847C>T p.R1283W Missense 19/20 - 2
3-49927458-GT-G c.3846del p.R1283Gfs*37 Frameshift 19/20 - 2
3-49927459-G-T c.3845C>A p.T1282K Missense 19/20 - 1
3-49927461-C-A c.3843G>T p.L1281= Synonymous 19/20 - 1
3-49927461-C-G c.3843G>C p.L1281= Synonymous 19/20 - 1
3-49927461-C-T c.3843G>A p.L1281= Synonymous 19/20 - 1
3-49927463-G-A c.3841C>T p.L1281= Synonymous 19/20 - 1
3-49927479-C-G c.3825G>C p.V1275= Synonymous 19/20 - 1
3-49927489-G-T c.3815C>A p.S1272* Nonsense 19/20 - 1
3-49927492-C-A c.3812G>T p.W1271L Missense 19/20 - 1
3-49927493-A-G c.3811T>C p.W1271R Missense 19/20 - 1
3-49927493-A-T c.3811T>A p.W1271R Missense 19/20 - 1
3-49927503-G-A c.3811-10C>T - IntronicSNV - 18/19 1
3-49927503-G-C c.3811-10C>G - IntronicSNV - 18/19 1
3-49927503-G-T c.3811-10C>A - IntronicSNV - 18/19 1
3-49927877-G-T c.3810+41C>A - IntronicSNV - 18/19 1
3-49927919-A-C c.3809T>G p.V1270G Missense 18/20 - 2
3-49927920-C-A c.3808G>T p.V1270L Missense 18/20 - 1
3-49927920-C-G c.3808G>C p.V1270L Missense 18/20 - 1
3-49927925-G-T c.3803C>A p.S1268Y Missense 18/20 - 1
3-49927932-T-C c.3796A>G p.T1266A Missense 18/20 - 1
3-49927935-T-C c.3793A>G p.T1265A Missense 18/20 - 1
3-49927941-T-A c.3787A>T p.R1263* Nonsense 18/20 - 1
3-49927946-G-A c.3782C>T p.T1261I Missense 18/20 - 2
3-49927948-C-A c.3780G>T p.Q1260H Missense 18/20 - 1
3-49927948-C-G c.3780G>C p.Q1260H Missense 18/20 - 1
3-49927949-T-A c.3779A>T p.Q1260L Missense 18/20 - 1
3-49927950-G-A c.3778C>T p.Q1260* Nonsense 18/20 - 1
3-49927955-C-T c.3773G>A p.S1258N Missense 18/20 - 1
3-49927956-T-C c.3772A>G p.S1258G Missense 18/20 - 2
3-49927957-C-T c.3771G>A p.E1257= Synonymous 18/20 - 2
3-49927963-C-A c.3765G>T p.A1255= Synonymous 18/20 - 1
3-49927964-G-A c.3764C>T p.A1255V Missense 18/20 - 1
3-49927967-A-G c.3761T>C p.M1254T Missense 18/20 - 4
3-49927968-T-A c.3760A>T p.M1254L Missense 18/20 - 1
3-49927972-C-T c.3756G>A p.K1252= Synonymous 18/20 - 1
3-49927975-C-T c.3753G>A p.V1251= Synonymous 18/20 - 1
3-49927979-G-T c.3749C>A p.P1250H Missense 18/20 - 1
3-49927985-C-A c.3743G>T p.R1248L Missense 18/20 - 3
3-49927985-C-T c.3743G>A p.R1248H Missense 18/20 - 7
3-49927989-C-T c.3739G>A p.A1247T Missense 18/20 - 1
3-49927993-G-A c.3735C>T p.R1245= Synonymous 18/20 - 1
3-49927995-G-A c.3733C>T p.R1245C Missense 18/20 - 3
3-49927997-T-A c.3731A>T p.H1244L Missense 18/20 - 1
3-49928006-A-G c.3722T>C p.V1241A Missense 18/20 - 1
3-49928006-A-T c.3722T>A p.V1241D Missense 18/20 - 1
3-49928007-C-T c.3721G>A p.V1241I Missense 18/20 - 1
3-49928018-T-A c.3710A>T p.E1237V Missense 18/20 - 1
3-49928020-C-T c.3708G>A p.R1236= Synonymous 18/20 - 3
3-49928022-T-A c.3706A>T p.R1236W Missense 18/20 - 1
3-49928022-T-TA c.3705_3706insT p.R1236* Nonsense 18/20 - 1
3-49928023-G-C c.3705C>G p.D1235E Missense 18/20 - 3
3-49928023-G-T c.3705C>A p.D1235E Missense 18/20 - 2
3-49928028-G-A c.3700C>T p.L1234= Synonymous 18/20 - 2
3-49928029-G-A c.3699C>T p.I1233= Synonymous 18/20 - 3
3-49928032-G-A c.3696C>T p.D1232= Synonymous 18/20 - 1
3-49928033-T-A c.3695A>T p.D1232V Missense 18/20 - 3
3-49928033-T-C c.3695A>G p.D1232G Missense 18/20 - 1
3-49928035-G-A c.3693C>T p.R1231= Synonymous 18/20 - 2
3-49928035-G-C c.3693C>G p.R1231= Synonymous 18/20 - 1
3-49928035-G-T c.3693C>A p.R1231= Synonymous 18/20 - 2
3-49928036-C-T c.3692G>A p.R1231H Missense 18/20 - 2
3-49928037-G-A c.3691C>T p.R1231C Missense 18/20 - 7
3-49928038-G-A c.3690C>T p.A1230= Synonymous 18/20 - 1
3-49928039-G-A c.3689C>T p.A1230V Missense 18/20 - 1
3-49928050-G-A c.3678C>T p.D1226= Synonymous 18/20 - 1
3-49928052-C-T c.3676G>A p.D1226N Missense 18/20 - 1
3-49928053-A-C c.3675T>G p.A1225= Synonymous 18/20 - 1
3-49928053-A-G c.3675T>C p.A1225= Synonymous 18/20 - 1
3-49928053-A-T c.3675T>A p.A1225= Synonymous 18/20 - 1
3-49928054-G-A c.3674C>T p.A1225V Missense 18/20 - 1
3-49928060-T-C c.3668A>G p.K1223R Missense 18/20 - 1
3-49928066-G-A c.3662C>T p.T1221I Missense 18/20 - 1
3-49928064-CTG-C c.3662_3663del p.T1221Sfs*5 Frameshift 18/20 - 1
3-49928076-C-T c.3652G>A p.E1218K Missense 18/20 - 1
3-49928077-G-A c.3651C>T p.D1217= Synonymous 18/20 - 2
3-49928137-C-G c.3645-54G>C - IntronicSNV - 17/19 1
3-49928198-A-G c.3645-115T>C - IntronicSNV - 17/19 1
3-49928614-T-A c.3644+16A>T - IntronicSNV - 17/19 1
3-49928614-T-C c.3644+16A>G - IntronicSNV - 17/19 1
3-49928630-A-G c.3644T>C p.M1215T Missense 17/20 - 1
3-49928634-A-T c.3640T>A p.C1214S Missense 17/20 - 1
3-49928635-G-GT c.3638dup p.N1213Kfs*14 Frameshift 17/20 - 1
3-49928638-C-A c.3636G>T p.R1212= Synonymous 17/20 - 2
3-49928638-C-T c.3636G>A p.R1212= Synonymous 17/20 - 2
3-49928639-C-T c.3635G>A p.R1212Q Missense 17/20 - 1
3-49928638-C-G c.3636G>C p.R1212= Synonymous 17/20 - 1
3-49928640-G-A c.3634C>T p.R1212W Missense 17/20 - 1
3-49928640-G-T c.3634C>A p.R1212= Synonymous 17/20 - 1
3-49928642-G-A c.3632C>T p.A1211V Missense 17/20 - 3
3-49928643-C-T c.3631G>A p.A1211T Missense 17/20 - 3
3-49928650-G-GGTAC c.3623_3624insGTAC p.D1208Efs*20 Frameshift 17/20 - 1
3-49928652-C-T c.3622G>A p.D1208N Missense 17/20 - 2
3-49928653-C-A c.3621G>T p.R1207S Missense 17/20 - 1
3-49928653-C-G c.3621G>C p.R1207S Missense 17/20 - 1
3-49928656-G-A c.3618C>T p.H1206= Synonymous 17/20 - 1
3-49928657-T-C c.3617A>G p.H1206R Missense 17/20 - 1
3-49928662-A-G c.3612T>C p.F1204= Synonymous 17/20 - 1
3-49928664-A-C c.3610T>G p.F1204V Missense 17/20 - 1
3-49928665-C-T c.3609G>A p.K1203= Synonymous 17/20 - 1
3-49928671-C-T c.3603G>A p.E1201= Synonymous 17/20 - 3
3-49928674-TGC-ACA c.3598_3600delinsTGT p.A1200C Missense 17/20 - 1
3-49928679-G-A c.3595C>T p.L1199= Synonymous 17/20 - 1
3-49928681-T-A c.3593A>T p.Y1198F Missense 17/20 - 1
3-49928681-T-C c.3593A>G p.Y1198C Missense 17/20 - 1
3-49928683-C-A c.3591G>T p.E1197D Missense 17/20 - 1
3-49928686-C-G c.3588G>C p.M1196I Missense 17/20 - 1
3-49928688-T-C c.3586A>G p.M1196V Missense 17/20 - 1
3-49928689-G-A c.3585C>T p.G1195= Synonymous 17/20 - 1
3-49928691-T-A c.3583A>T p.G1195C Missense 17/20 - 29
3-49928691-T-C c.3583A>G p.G1195G Missense 17/20 - 29
3-49928691-T-G c.3583A>C p.G1195R Missense 17/20 - 29
3-49928692-G-A c.3582C>T p.R1194= Synonymous 17/20 - 1
3-49928693-C-T c.3581G>A p.R1194H Missense 17/20 - 6
3-49928694-G-A c.3580C>T p.R1194C Missense 17/20 - 1
3-49928696-G-C c.3578C>G p.A1193G Missense 17/20 - 1
3-49928696-G-T c.3578C>A p.A1193D Missense 17/20 - 4
3-49928699-A-G c.3575T>C p.V1192A Missense 17/20 - 1
3-49928700-C-A c.3574G>T p.V1192L Missense 17/20 - 2
3-49928713-G-GA c.3560_3561insT p.F1188Lfs*39 Frameshift 17/20 - 1
3-49928716-G-A c.3558C>T p.I1186= Synonymous 17/20 - 1
3-49928718-T-A c.3556A>T p.I1186F Missense 17/20 - 1
3-49928719-G-A c.3555C>T p.L1185= Synonymous 17/20 - 1
3-49928724-C-T c.3550G>A p.D1184N Missense 17/20 - 1
3-49928725-C-T c.3549G>A p.K1183= Synonymous 17/20 - 1
3-49928730-C-T c.3544G>A p.V1182M Missense 17/20 - 1
3-49928731-G-A c.3543C>T p.T1181= Synonymous 17/20 - 1
3-49928731-G-C c.3543C>G p.T1181= Synonymous 17/20 - 1
3-49928731-G-T c.3543C>A p.T1181= Synonymous 17/20 - 1
3-49928732-G-A c.3542C>T p.T1181I Missense 17/20 - 1
3-49928732-GT-CA c.3541_3542delinsTG p.T1181C Missense 17/20 - 1
3-49928829-G-A c.3534+3C>T - IntronicSNV - 16/19 1
3-49928833-C-A c.3533G>T p.R1178L Missense 16/20 - 1
3-49928834-G-A c.3532C>T p.R1178W Missense 16/20 - 1
3-49928838-A-T c.3528T>A p.P1176= Synonymous 16/20 - 1
3-49928845-C-T c.3521G>A p.R1174H Missense 16/20 - 1
3-49928850-TG-T c.3516del p.F1172Lfs*11 Frameshift 16/20 - 1
3-49928864-C-G c.3502G>C p.D1168H Missense 16/20 - 1
3-49928866-C-T c.3500G>A p.G1167D Missense 16/20 - 4
3-49928867-C-T c.3499G>A p.G1167S Missense 16/20 - 3
3-49928870-G-T c.3496C>A p.H1166N Missense 16/20 - 1
3-49928879-A-G c.3487T>C p.Y1163H Missense 16/20 - 1
3-49928882-G-A c.3484C>T p.P1162S Missense 16/20 - 3
3-49928894-G-A c.3472C>T p.H1158Y Missense 16/20 - 4
3-49928897-G-A c.3469C>T p.P1157S Missense 16/20 - 1
3-49928902-C-T c.3464G>A p.G1155D Missense 16/20 - 2
3-49928906-C-G c.3460G>C p.E1154Q Missense 16/20 - 1
3-49928906-C-T c.3460G>A p.E1154K Missense 16/20 - 2
3-49928916-C-T c.3450G>A p.M1150I Missense 16/20 - 1
3-49928919-G-A c.3447C>T p.I1149= Synonymous 16/20 - 1
3-49928923-C-G c.3443G>C p.G1148A Missense 16/20 - 1
3-49928926-A-G c.3440T>C p.I1147T Missense 16/20 - 3
3-49928930-G-C c.3436C>G p.L1146V Missense 16/20 - 2
3-49928932-G-T c.3434C>A p.A1145D Missense 16/20 - 1
3-49928933-C-A c.3433G>T p.A1145S Missense 16/20 - 1
3-49928935-A-G c.3431T>C p.L1144P Missense 16/20 - 1
3-49928938-A-G c.3428T>C p.V1143A Missense 16/20 - 1
3-49928939-C-T c.3427G>A p.V1143M Missense 16/20 - 4
3-49928943-C-A c.3423G>T p.P1141= Synonymous 16/20 - 1
3-49928943-C-G c.3423G>C p.P1141= Synonymous 16/20 - 1
3-49928943-C-T c.3423G>A p.P1141= Synonymous 16/20 - 2
3-49928959-C-T c.3407G>A p.R1136H Missense 16/20 - 2
3-49928960-G-A c.3406C>T p.R1136C Missense 16/20 - 5
3-49928978-G-A c.3388C>T p.R1130* Nonsense 16/20 - 2
3-49928980-A-G c.3386T>C p.L1129P Missense 16/20 - 1
3-49928981-G-T c.3385C>A p.L1129M Missense 16/20 - 1
3-49928982-G-A c.3384C>T p.F1128= Synonymous 16/20 - 2
3-49928983-A-ATTACTGTTCC c.3382_3383insGGAACAGTAA p.F1128Wfs*30 Frameshift 16/20 - 1
3-49928986-G-A c.3380C>T p.A1127V Missense 16/20 - 1
3-49928996-G-A c.3370C>T p.Q1124* Nonsense 16/20 - 2
3-49929003-C-A c.3363G>T p.E1121D Missense 16/20 - 1
3-49929003-C-G c.3363G>C p.E1121D Missense 16/20 - 1
3-49929005-C-A c.3361G>T p.E1121* Nonsense 16/20 - 4
3-49929005-C-T c.3361G>A p.E1121K Missense 16/20 - 1
3-49929008-T-C c.3358A>G p.T1120A Missense 16/20 - 1
3-49929022-C-T c.3353-9G>A - IntronicSNV - 15/19 1
3-49929025-C-A c.3353-12G>T - IntronicSNV - 15/19 2
3-49929025-C-T c.3353-12G>A - IntronicSNV - 15/19 2
3-49929049-G-A c.3353-36C>T - IntronicSNV - 15/19 1
3-49929191-G-A c.3352C>T p.R1118C Missense 15/20 - 3
3-49929193-C-T c.3350G>A p.S1117N Missense 15/20 - 1
3-49929199-G-C c.3344C>G p.S1115* Nonsense 15/20 - 1
3-49929202-T-A c.3341A>T p.K1114M Missense 15/20 - 4
3-49929204-G-C c.3339C>G p.I1113M Missense 15/20 - 2
3-49929208-G-A c.3335C>T p.A1112V Missense 15/20 - 1
3-49929212-A-G c.3331T>C p.C1111R Missense 15/20 - 1
3-49929215-G-A c.3328C>T p.Q1110* Nonsense 15/20 - 3
3-49929216-G-A c.3327C>T p.I1109= Synonymous 15/20 - 2
3-49929216-G-C c.3327C>G p.I1109M Missense 15/20 - 1
3-49929220-C-T c.3323G>A p.R1108Q Missense 15/20 - 2
3-49929221-G-A c.3322C>T p.R1108* Nonsense 15/20 - 4
3-49929222-A-C c.3321T>G p.N1107K Missense 15/20 - 3
3-49929222-A-T c.3321T>A p.N1107K Missense 15/20 - 1
3-49929225-C-A c.3318G>T p.Q1106H Missense 15/20 - 1
3-49929227-G-C c.3316C>G p.Q1106E Missense 15/20 - 1
3-49929229-G-A c.3314C>T p.A1105V Missense 15/20 - 2
3-49929233-G-T c.3310C>A p.Q1104K Missense 15/20 - 2
3-49929236-C-T c.3307G>A p.D1103N Missense 15/20 - 1
3-49929243-T-C c.3300A>G p.E1100= Synonymous 15/20 - 1
3-49929247-C-G c.3296G>C p.G1099A Missense 15/20 - 4
3-49929248-C-T c.3295G>A p.G1099R Missense 15/20 - 1
3-49929249-G-A c.3294C>T p.H1098= Synonymous 15/20 - 4
3-49929255-G-A c.3288C>T p.V1096= Synonymous 15/20 - 2
3-49929255-G-C c.3288C>G p.V1096= Synonymous 15/20 - 1
3-49929255-G-T c.3288C>A p.V1096= Synonymous 15/20 - 1
3-49929261-T-A c.3282A>T p.G1094= Synonymous 15/20 - 1
3-49929261-T-C c.3282A>G p.G1094= Synonymous 15/20 - 1
3-49929261-T-G c.3282A>C p.G1094= Synonymous 15/20 - 1
3-49930215-C-T c.3272-944G>A - IntronicSNV - 14/19 1
3-49930316-C-A c.3272-1045G>T - IntronicSNV - 14/19 1
3-49930316-C-T c.3272-1045G>A - IntronicSNV - 14/19 1
3-49931070-C-G c.3271+1530G>C - IntronicSNV - 14/19 1
3-49931343-A-C c.3271+1257T>G - IntronicSNV - 14/19 2
3-49931343-A-T c.3271+1257T>A - IntronicSNV - 14/19 2
3-49931348-T-A c.3271+1252A>T - IntronicSNV - 14/19 1
3-49932486-CTG-C c.3271+113_3271+114del - IntronicDeletion - 14/19 1
3-49932601-T-A c.3270A>T p.K1090N Missense 14/20 - 1
3-49932621-T-A c.3250A>T p.S1084C Missense 14/20 - 1
3-49932628-G-A c.3243C>T p.V1081= Synonymous 14/20 - 2
3-49932628-G-C c.3243C>G p.V1081= Synonymous 14/20 - 2
3-49932628-G-T c.3243C>A p.V1081= Synonymous 14/20 - 2
3-49932629-A-G c.3242T>C p.V1081A Missense 14/20 - 1
3-49932636-G-A c.3235C>T p.R1079W Missense 14/20 - 5
3-49932637-C-T c.3234G>A p.E1078= Synonymous 14/20 - 1
3-49932639-C-T c.3232G>A p.E1078K Missense 14/20 - 1
3-49932644-GG-AA c.3226_3227delinsTT p.P1076F Missense 14/20 - 1
3-49932658-C-T c.3213G>A p.K1071= Synonymous 14/20 - 2
3-49932666-C-A c.3205G>T p.E1069* Nonsense 14/20 - 1
3-49932676-C-T c.3195G>A p.A1065= Synonymous 14/20 - 1
3-49932677-G-A c.3194C>T p.A1065V Missense 14/20 - 1
3-49932680-G-A c.3191C>T p.S1064F Missense 14/20 - 2
3-49932680-G-C c.3191C>G p.S1064C Missense 14/20 - 4
3-49932681-A-C c.3190T>G p.S1064A Missense 14/20 - 1
3-49932681-A-G c.3190T>C p.S1064P Missense 14/20 - 3
3-49932684-C-T c.3187G>A p.D1063N Missense 14/20 - 1
3-49932687-G-T c.3184C>A p.L1062M Missense 14/20 - 1
3-49932692-C-G c.3179G>C p.R1060T Missense 14/20 - 1
3-49932694-T-A c.3177A>T p.L1059= Synonymous 14/20 - 1
3-49932694-T-C c.3177A>G p.L1059= Synonymous 14/20 - 1
3-49932694-T-G c.3177A>C p.L1059= Synonymous 14/20 - 1
3-49932696-G-A c.3175C>T p.L1059= Synonymous 14/20 - 1
3-49932696-G-T c.3175C>A p.L1059I Missense 14/20 - 1
3-49932699-G-A c.3172C>T p.Q1058* Nonsense 14/20 - 1
3-49932700-G-C c.3171C>G p.I1057M Missense 14/20 - 2
3-49932703-G-A c.3168C>T p.S1056= Synonymous 14/20 - 1
3-49932703-G-C c.3168C>G p.S1056= Synonymous 14/20 - 1
3-49932703-G-T c.3168C>A p.S1056= Synonymous 14/20 - 1
3-49932704-G-A c.3167C>T p.S1056F Missense 14/20 - 2
3-49932706-ACTC-A c.3163_3165del p.E1055del InFrameDeletion 14/20 - 1
3-49932708-C-G c.3163G>C p.E1055Q Missense 14/20 - 2
3-49932708-C-T c.3163G>A p.E1055K Missense 14/20 - 3
3-49932714-G-A c.3157C>T p.R1053W Missense 14/20 - 2
3-49932716-A-C c.3155T>G p.L1052R Missense 14/20 - 1
3-49932721-T-A c.3150A>T p.P1050= Synonymous 14/20 - 1
3-49932721-T-C c.3150A>G p.P1050= Synonymous 14/20 - 1
3-49932721-T-G c.3150A>C p.P1050= Synonymous 14/20 - 1
3-49932721-TGG-ATA c.3148_3150delinsTAT p.P1050Y Missense 14/20 - 1
3-49932723-G-A c.3148C>T p.P1050S Missense 14/20 - 2
3-49932724-C-T c.3147G>A p.V1049= Synonymous 14/20 - 2
3-49932726-C-T c.3145G>A p.V1049M Missense 14/20 - 1
3-49932731-G-A c.3140C>T p.S1047F Missense 14/20 - 3
3-49932735-C-T c.3136G>A p.E1046K Missense 14/20 - 3
3-49932747-C-T c.3124G>A p.D1042N Missense 14/20 - 2
3-49932748-G-A c.3123C>T p.S1041= Synonymous 14/20 - 1
3-49932749-G-A c.3122C>T p.S1041F Missense 14/20 - 1
3-49932757-T-A c.3114A>T p.A1038= Synonymous 14/20 - 1
3-49932757-T-C c.3114A>G p.A1038= Synonymous 14/20 - 1
3-49932757-T-G c.3114A>C p.A1038= Synonymous 14/20 - 1
3-49932759-C-T c.3112G>A p.A1038T Missense 14/20 - 1
3-49932770-CA-GC c.3100_3101delinsGC p.C1034A Missense 14/20 - 1
3-49932779-G-A c.3092C>T p.S1031F Missense 14/20 - 1
3-49932788-C-T c.3083G>A p.G1028D Missense 14/20 - 1
3-49932789-C-G c.3082G>C p.G1028R Missense 14/20 - 1
3-49932792-C-T c.3079G>A p.D1027N Missense 14/20 - 3
3-49932802-G-A c.3069C>T p.L1023= Synonymous 14/20 - 1
3-49932802-G-C c.3069C>G p.L1023= Synonymous 14/20 - 1
3-49932802-G-T c.3069C>A p.L1023= Synonymous 14/20 - 1
3-49932889-T-A c.3055A>T p.S1019C Missense 13/20 - 1
3-49932890-TCT-ACA c.3052_3054delinsTGT p.R1018C Missense 13/20 - 1
3-49932892-T-C c.3052A>G p.R1018G Missense 13/20 - 3
3-49932898-C-T c.3046G>A p.D1016N Missense 13/20 - 1
3-49932904-C-G c.3040G>C p.G1014R Missense 13/20 - 1
3-49932905-C-T c.3039G>A p.S1013= Synonymous 13/20 - 1
3-49932906-G-A c.3038C>T p.S1013L Missense 13/20 - 1
3-49932908-G-T c.3036C>A p.Y1012* Nonsense 13/20 - 1
3-49932909-T-A c.3035A>T p.Y1012F Missense 13/20 - 1
3-49932913-G-A c.3031C>T p.L1011= Synonymous 13/20 - 1
3-49932919-G-A c.3025C>T p.P1009S Missense 13/20 - 2
3-49932919-G-T c.3025C>A p.P1009T Missense 13/20 - 1
3-49932926-T-A c.3018A>T p.T1006= Synonymous 13/20 - 1
3-49932926-T-C c.3018A>G p.T1006= Synonymous 13/20 - 1
3-49932926-T-G c.3018A>C p.T1006= Synonymous 13/20 - 1
3-49932930-G-T c.3014C>A p.A1005D Missense 13/20 - 1
3-49932932-TCC-ACA c.3010_3012delinsTGT p.G1004C Missense 13/20 - 1
3-49932949-G-T c.2995C>A p.L999M Missense 13/20 - 1
3-49932955-C-T c.2989G>A p.A997T Missense 13/20 - 2
3-49932956-C-A c.2988G>T p.L996= Synonymous 13/20 - 1
3-49932956-C-G c.2988G>C p.L996= Synonymous 13/20 - 1
3-49932956-C-T c.2988G>A p.L996= Synonymous 13/20 - 1
3-49932958-G-A c.2986C>T p.L996= Synonymous 13/20 - 1
3-49932958-G-C c.2986C>G p.L996V Missense 13/20 - 1
3-49932965-C-A c.2979G>T p.L993= Synonymous 13/20 - 1
3-49932965-C-G c.2979G>C p.L993= Synonymous 13/20 - 1
3-49932965-C-T c.2979G>A p.L993= Synonymous 13/20 - 1
3-49932967-G-A c.2977C>T p.L993= Synonymous 13/20 - 1
3-49932973-G-A c.2971C>T p.P991S Missense 13/20 - 2
3-49932975-G-A c.2969C>T p.P990L Missense 13/20 - 1
3-49933087-G-A c.2962+61C>T - IntronicSNV - 12/19 1
3-49933158-C-T c.2952G>A p.R984= Synonymous 12/20 - 1
3-49933160-T-G c.2950A>C p.R984= Synonymous 12/20 - 1
3-49933160-T-A c.2950A>T p.R984W Missense 12/20 - 2
3-49933160-T-C c.2950A>G p.R984G Missense 12/20 - 1
3-49933162-C-T c.2948G>A p.R983Q Missense 12/20 - 3
3-49933163-CG-C c.2947del p.R983Gfs*5 Frameshift 12/20 - 1
3-49933163-G-A c.2947C>T p.R983W Missense 12/20 - 2
3-49933165-C-A c.2945G>T p.W982L Missense 12/20 - 2
3-49933165-C-T c.2945G>A p.W982* Nonsense 12/20 - 1
3-49933173-GCT-TCA c.2935_2937delinsTGA p.S979* Nonsense 12/20 - 1
3-49933174-C-T c.2936G>A p.S979N Missense 12/20 - 1
3-49933176-G-C c.2934C>G p.F978L Missense 12/20 - 1
3-49933176-G-T c.2934C>A p.F978L Missense 12/20 - 1
3-49933178-A-G c.2932T>C p.F978L Missense 12/20 - 1
3-49933181-C-A c.2929G>T p.V977F Missense 12/20 - 4
3-49933192-G-A c.2918C>T p.A973V Missense 12/20 - 3
3-49933193-C-T c.2917G>A p.A973T Missense 12/20 - 2
3-49933196-G-T c.2914C>A p.L972M Missense 12/20 - 1
3-49933202-C-G c.2908G>C p.A970P Missense 12/20 - 1
3-49933204-AC-GG c.2905_2906delinsCC p.V969P Missense 12/20 - 1
3-49933206-A-C c.2904T>G p.L968= Synonymous 12/20 - 1
3-49933206-A-G c.2904T>C p.L968= Synonymous 12/20 - 1
3-49933206-A-T c.2904T>A p.L968= Synonymous 12/20 - 1
3-49933211-G-A c.2899C>T p.L967= Synonymous 12/20 - 1
3-49933212-C-A c.2898G>T p.L966= Synonymous 12/20 - 1
3-49933212-C-G c.2898G>C p.L966= Synonymous 12/20 - 1
3-49933212-C-T c.2898G>A p.L966= Synonymous 12/20 - 1
3-49933214-G-A c.2896C>T p.L966= Synonymous 12/20 - 1
3-49933213-A-G c.2897T>C p.L966P Missense 12/20 - 1
3-49933215-C-A c.2895G>T p.L965F Missense 12/20 - 1
3-49933215-C-G c.2895G>C p.L965F Missense 12/20 - 1
3-49933219-G-A c.2891C>T p.P964L Missense 12/20 - 2
3-49933221-C-A c.2889G>T p.L963= Synonymous 12/20 - 1
3-49933221-C-G c.2889G>C p.L963= Synonymous 12/20 - 1
3-49933221-C-T c.2889G>A p.L963= Synonymous 12/20 - 1
3-49933223-G-A c.2887C>T p.L963= Synonymous 12/20 - 1
3-49933227-G-A c.2883C>T p.I961= Synonymous 12/20 - 2
3-49933235-G-A c.2875C>T p.L959F Missense 12/20 - 1
3-49933239-C-A c.2871G>T p.T957= Synonymous 12/20 - 2
3-49933239-C-G c.2871G>C p.T957= Synonymous 12/20 - 4
3-49933239-C-T c.2871G>A p.T957= Synonymous 12/20 - 3
3-49933240-G-A c.2870C>T p.T957M Missense 12/20 - 1
3-49933240-G-T c.2870C>A p.T957K Missense 12/20 - 2
3-49933245-C-A c.2865G>T p.Q955H Missense 12/20 - 1
3-49933245-C-G c.2865G>C p.Q955H Missense 12/20 - 1
3-49933251-G-A c.2859C>T p.V953= Synonymous 12/20 - 3
3-49933256-C-G c.2854G>C p.G952R Missense 12/20 - 1
3-49933256-C-T c.2854G>A p.G952R Missense 12/20 - 2
3-49933259-C-A c.2851G>T p.D951Y Missense 12/20 - 2
3-49933259-C-G c.2851G>C p.D951H Missense 12/20 - 1
3-49933262-G-A c.2848C>T p.P950S Missense 12/20 - 1
3-49933263-C-A c.2847G>T p.G949= Synonymous 12/20 - 3
3-49933264-CC-TT c.2845_2846delinsAA p.G949K Missense 12/20 - 1
3-49933264-C-G c.2846G>C p.G949A Missense 12/20 - 1
3-49933265-C-G c.2845G>C p.G949R Missense 12/20 - 1
3-49933269-C-T c.2841G>A p.R947= Synonymous 12/20 - 1
3-49933270-C-T c.2840G>A p.R947Q Missense 12/20 - 2
3-49933272-C-A c.2838G>T p.V946= Synonymous 12/20 - 1
3-49933279-C-T c.2831G>A p.R944K Missense 12/20 - 1
3-49933280-T-A c.2830A>T p.R944* Nonsense 12/20 - 1
3-49933287-G-A c.2823C>T p.I941= Synonymous 12/20 - 3
3-49933287-G-T c.2823C>A p.I941= Synonymous 12/20 - 1
3-49933304-C-A c.2806G>T p.D936Y Missense 12/20 - 1
3-49933304-C-G c.2806G>C p.D936H Missense 12/20 - 1
3-49933307-C-A c.2803G>T p.V935L Missense 12/20 - 1
3-49933307-C-G c.2803G>C p.V935L Missense 12/20 - 1
3-49933307-C-T c.2803G>A p.V935I Missense 12/20 - 2
3-49933313-C-G c.2797G>C p.V933L Missense 12/20 - 1
3-49933313-C-T c.2797G>A p.V933I Missense 12/20 - 1
3-49933404-G-A c.2786C>T p.A929V Missense 11/20 - 2
3-49933408-C-A c.2782G>T p.G928C Missense 11/20 - 1
3-49933413-TG-GC c.2776_2777delinsGC p.Q926A Missense 11/20 - 1
3-49933414-G-A c.2776C>T p.Q926* Nonsense 11/20 - 1
3-49933416-C-A c.2774G>T p.G925V Missense 11/20 - 1
3-49933420-G-A c.2770C>T p.L924F Missense 11/20 - 1
3-49933438-G-A c.2752C>T p.L918= Synonymous 11/20 - 1
3-49933440-G-A c.2750C>T p.P917L Missense 11/20 - 4
3-49933445-G-A c.2745C>T p.V915= Synonymous 11/20 - 3
3-49933450-C-T c.2740G>A p.V914I Missense 11/20 - 1
3-49933451-C-A c.2739G>T p.M913I Missense 11/20 - 1
3-49933456-C-CA c.2733_2734insT p.D912* Nonsense 11/20 - 1
3-49933456-C-T c.2734G>A p.D912N Missense 11/20 - 1
3-49933458-C-A c.2732G>T p.G911V Missense 11/20 - 1
3-49933460-C-A c.2730G>T p.R910= Synonymous 11/20 - 1
3-49933455-TC-T c.2734del p.D912Tfs*24 Frameshift 11/20 - 1
3-49933461-C-T c.2729G>A p.R910Q Missense 11/20 - 2
3-49933462-G-T c.2728C>A p.R910= Synonymous 11/20 - 2
3-49933463-G-A c.2727C>T p.F909= Synonymous 11/20 - 4
3-49933467-T-A c.2723A>T p.E908V Missense 11/20 - 1
3-49933481-C-G c.2709G>C p.E903D Missense 11/20 - 1
3-49933483-C-T c.2707G>A p.E903K Missense 11/20 - 1
3-49933485-C-T c.2705G>A p.G902D Missense 11/20 - 1
3-49933486-C-T c.2704G>A p.G902S Missense 11/20 - 1
3-49933489-C-A c.2701G>T p.G901C Missense 11/20 - 1
3-49933492-C-T c.2698G>A p.V900M Missense 11/20 - 2
3-49933493-G-A c.2697C>T p.T899= Synonymous 11/20 - 2
3-49933500-T-C c.2690A>G p.N897S Missense 11/20 - 2
3-49933514-G-A c.2676C>T p.D892= Synonymous 11/20 - 1
3-49933511-ACAGT-A c.2675_2678del p.D892Vfs*6 Frameshift 11/20 - 1
3-49933516-C-T c.2674G>A p.D892N Missense 11/20 - 1
3-49933522-C-T c.2668G>A p.V890M Missense 11/20 - 2
3-49933524-G-A c.2666C>T p.A889V Missense 11/20 - 1
3-49933525-C-T c.2665G>A p.A889T Missense 11/20 - 2
3-49933614-T-G c.2649+14A>C - IntronicSNV - 10/19 1
3-49933627-C-T c.2649+1G>A - IntronicSNV - 10/19 1
3-49933628-C-T c.2649G>A p.E883= Synonymous 10/20 - 2
3-49933629-T-C c.2648A>G p.E883G Missense 10/20 - 1
3-49933634-C-T c.2643G>A p.K881= Synonymous 10/20 - 1
3-49933638-A-T c.2639T>A p.I880N Missense 10/20 - 1
3-49933642-C-A c.2635G>T p.A879S Missense 10/20 - 1
3-49933650-T-C c.2627A>G p.E876G Missense 10/20 - 1
3-49933651-C-T c.2626G>A p.E876K Missense 10/20 - 1
3-49933654-G-A c.2623C>T p.P875S Missense 10/20 - 1
3-49933657-T-C c.2620A>G p.K874E Missense 10/20 - 1
3-49933662-G-A c.2615C>T p.P872L Missense 10/20 - 2
3-49933671-T-C c.2606A>G p.N869S Missense 10/20 - 2
3-49933673-G-T c.2604C>A p.A868= Synonymous 10/20 - 2
3-49933675-C-T c.2602G>A p.A868T Missense 10/20 - 1
3-49933676-A-G c.2601T>C p.S867= Synonymous 10/20 - 1
3-49933677-C-G c.2600G>C p.S867T Missense 10/20 - 2
3-49933677-C-T c.2600G>A p.S867N Missense 10/20 - 1
3-49933677-CT-GG c.2599_2600delinsCC p.S867P Missense 10/20 - 1
3-49933682-T-A c.2595A>T p.P865= Synonymous 10/20 - 1
3-49933682-T-C c.2595A>G p.P865= Synonymous 10/20 - 1
3-49933682-T-G c.2595A>C p.P865= Synonymous 10/20 - 1
3-49933686-T-C c.2591A>G p.H864R Missense 10/20 - 3
3-49933687-G-A c.2590C>T p.H864Y Missense 10/20 - 1
3-49933689-G-A c.2588C>T p.P863L Missense 10/20 - 4
3-49933690-G-A c.2587C>T p.P863S Missense 10/20 - 1
3-49933693-G-A c.2584C>T p.P862S Missense 10/20 - 2
3-49933696-G-A c.2581C>T p.P861S Missense 10/20 - 3
3-49933703-G-A c.2574C>T p.R858= Synonymous 10/20 - 1
3-49933703-G-C c.2574C>G p.R858= Synonymous 10/20 - 1
3-49933703-GC-TT c.2573_2574delinsAA p.R858Q Missense 10/20 - 1
3-49933703-G-T c.2574C>A p.R858= Synonymous 10/20 - 1
3-49933704-C-T c.2573G>A p.R858H Missense 10/20 - 1
3-49933705-G-A c.2572C>T p.R858C Missense 10/20 - 3
3-49933705-G-T c.2572C>A p.R858S Missense 10/20 - 1
3-49933711-C-CA c.2565dup p.G856Wfs*21 Frameshift 10/20 - 1
3-49933714-G-A c.2563C>T p.P855S Missense 10/20 - 3
3-49933716-A-G c.2561T>C p.L854P Missense 10/20 - 1
3-49933718-T-C c.2559A>G p.T853= Synonymous 10/20 - 1
3-49933720-T-C c.2557A>G p.T853A Missense 10/20 - 2
3-49933724-G-C c.2553C>G p.G851= Synonymous 10/20 - 1
3-49933725-C-A c.2552G>T p.G851V Missense 10/20 - 1
3-49933728-G-A c.2549C>T p.A850V Missense 10/20 - 1
3-49933735-C-A c.2542G>T p.G848* Nonsense 10/20 - 1
3-49933741-C-T c.2536G>A p.G846R Missense 10/20 - 1
3-49933743-C-T c.2534G>A p.R845Q Missense 10/20 - 10
3-49933744-G-A c.2533C>T p.R845* Nonsense 10/20 - 3
3-49933746-G-A c.2531C>T p.A844V Missense 10/20 - 1
3-49933755-T-A c.2522A>T p.N841I Missense 10/20 - 2
3-49933757-C-A c.2520G>T p.G840= Synonymous 10/20 - 2
3-49933757-C-G c.2520G>C p.G840= Synonymous 10/20 - 2
3-49933757-C-T c.2520G>A p.G840= Synonymous 10/20 - 3
3-49933760-T-A c.2517A>T p.A839= Synonymous 10/20 - 1
3-49933765-C-A c.2512G>T p.V838L Missense 10/20 - 1
3-49933765-C-G c.2512G>C p.V838L Missense 10/20 - 1
3-49933767-C-A c.2510G>T p.W837L Missense 10/20 - 1
3-49933778-G-A c.2499C>T p.D833= Synonymous 10/20 - 1
3-49933780-C-A c.2497G>T p.D833Y Missense 10/20 - 1
3-49933780-C-T c.2497G>A p.D833N Missense 10/20 - 1
3-49933782-C-T c.2495G>A p.R832Q Missense 10/20 - 3
3-49933783-G-A c.2494C>T p.R832* Nonsense 10/20 - 3
3-49933784-GAC-CAT c.2491_2493delinsATG p.V831M Missense 10/20 - 1
3-49933789-C-A c.2488G>T p.V830L Missense 10/20 - 1
3-49933789-C-G c.2488G>C p.V830L Missense 10/20 - 1
3-49933795-C-A c.2482G>T p.E828* Nonsense 10/20 - 1
3-49933795-C-T c.2482G>A p.E828K Missense 10/20 - 2
3-49933797-G-A c.2480C>T p.P827L Missense 10/20 - 4
3-49933798-G-A c.2479C>T p.P827S Missense 10/20 - 1
3-49933804-G-A c.2473C>T p.R825C Missense 10/20 - 3
3-49933804-G-T c.2473C>A p.R825S Missense 10/20 - 1
3-49933806-C-A c.2471G>T p.C824F Missense 10/20 - 1
3-49933813-G-A c.2464C>T p.Q822* Nonsense 10/20 - 1
3-49933818-T-G c.2459A>C p.E820A Missense 10/20 - 1
3-49933823-A-C c.2454T>G p.L818= Synonymous 10/20 - 1
3-49933823-A-G c.2454T>C p.L818= Synonymous 10/20 - 1
3-49933823-A-T c.2454T>A p.L818= Synonymous 10/20 - 1
3-49933834-C-G c.2443G>C p.E815Q Missense 10/20 - 1
3-49933967-CA-C c.2439+6del - IntronicDeletion - 9/19 1
3-49933974-C-T c.2438G>A p.R813K Missense 9/20 - 2
3-49933979-T-C c.2433A>G p.E811= Synonymous 9/20 - 1
3-49933981-C-T c.2431G>A p.E811K Missense 9/20 - 4
3-49933982-C-T c.2430G>A p.V810= Synonymous 9/20 - 1
3-49933984-C-A c.2428G>T p.V810L Missense 9/20 - 1
3-49933985-T-A c.2427A>T p.A809= Synonymous 9/20 - 1
3-49933987-C-T c.2425G>A p.A809T Missense 9/20 - 2
3-49933995-C-T c.2417G>A p.G806E Missense 9/20 - 3
3-49933996-C-A c.2416G>T p.G806W Missense 9/20 - 2
3-49933997-G-A c.2415C>T p.D805= Synonymous 9/20 - 2
3-49934008-A-C c.2404T>G p.S802A Missense 9/20 - 1
3-49934008-A-G c.2404T>C p.S802P Missense 9/20 - 1
3-49934009-C-A c.2403G>T p.L801= Synonymous 9/20 - 1
3-49934009-C-G c.2403G>C p.L801= Synonymous 9/20 - 1
3-49934009-C-T c.2403G>A p.L801= Synonymous 9/20 - 1
3-49934011-G-A c.2401C>T p.L801= Synonymous 9/20 - 1
3-49934008-ACAG-A c.2401_2403del p.L801del InFrameDeletion 9/20 - 1
3-49934011-G-T c.2401C>A p.L801M Missense 9/20 - 1
3-49934016-A-C c.2396T>G p.L799* Nonsense 9/20 - 1
3-49934016-A-T c.2396T>A p.L799* Nonsense 9/20 - 2
3-49934020-G-T c.2392C>A p.H798N Missense 9/20 - 1
3-49934026-C-A c.2386G>T p.A796S Missense 9/20 - 1
3-49934035-G-C c.2377C>G p.L793V Missense 9/20 - 1
3-49934039-C-T c.2373G>A p.Q791= Synonymous 9/20 - 2
3-49934047-A-G c.2365T>C p.C789R Missense 9/20 - 1
3-49934059-G-T c.2353C>A p.H785N Missense 9/20 - 1
3-49934174-T-G c.2333A>C p.N778T Missense 8/20 - 2
3-49934178-G-A c.2329C>T p.P777S Missense 8/20 - 1
3-49934186-C-T c.2321G>A p.S774N Missense 8/20 - 2
3-49934194-GAC-CAT c.2311_2313delinsATG p.V771M Missense 8/20 - 1
3-49934199-G-A c.2308C>T p.P770S Missense 8/20 - 2
3-49934200-G-C c.2307C>G p.D769E Missense 8/20 - 1
3-49934200-G-T c.2307C>A p.D769E Missense 8/20 - 1
3-49934202-C-T c.2305G>A p.D769N Missense 8/20 - 1
3-49934205-C-T c.2302G>A p.E768K Missense 8/20 - 1
3-49934207-C-T c.2300G>A p.R767K Missense 8/20 - 1
3-49934208-T-C c.2299A>G p.R767G Missense 8/20 - 1
3-49934219-G-A c.2288C>T p.T763I Missense 8/20 - 1
3-49934219-GT-CC c.2287_2288delinsGG p.T763G Missense 8/20 - 1
3-49934225-G-A c.2282C>T p.S761F Missense 8/20 - 2
3-49934226-AACCAGGT-A c.2274_2280del p.S761Pfs*11 Frameshift 8/20 - 1
3-49934235-C-A c.2272G>T p.V758L Missense 8/20 - 2
3-49934243-C-G c.2264G>C p.G755A Missense 8/20 - 1
3-49934247-C-T c.2260G>A p.G754R Missense 8/20 - 1
3-49934242-AC-A c.2264del p.G755Vfs*19 Frameshift 8/20 - 7
3-49934253-G-C c.2254C>G p.Q752E Missense 8/20 - 1
3-49934265-G-C c.2242C>G p.P748A Missense 8/20 - 1
3-49934269-A-T c.2238T>A p.S746R Missense 8/20 - 1
3-49934275-C-A c.2232G>T p.V744= Synonymous 8/20 - 1
3-49934275-C-G c.2232G>C p.V744= Synonymous 8/20 - 1
3-49934275-C-T c.2232G>A p.V744= Synonymous 8/20 - 2
3-49934278-C-A c.2229G>T p.T743= Synonymous 8/20 - 1
3-49934278-C-G c.2229G>C p.T743= Synonymous 8/20 - 1
3-49934278-C-T c.2229G>A p.T743= Synonymous 8/20 - 1
3-49934284-C-A c.2223G>T p.G741= Synonymous 8/20 - 1
3-49934284-C-G c.2223G>C p.G741= Synonymous 8/20 - 1
3-49934284-C-T c.2223G>A p.G741= Synonymous 8/20 - 1
3-49934287-AG-A c.2219del p.P740Lfs*34 Frameshift 8/20 - 1
3-49934292-G-C c.2215C>G p.P739A Missense 8/20 - 1
3-49934311-C-A c.2196G>T p.G732= Synonymous 8/20 - 1
3-49934311-C-G c.2196G>C p.G732= Synonymous 8/20 - 1
3-49934311-C-T c.2196G>A p.G732= Synonymous 8/20 - 1
3-49934313-C-T c.2194G>A p.G732R Missense 8/20 - 1
3-49934314-C-T c.2193G>A p.E731= Synonymous 8/20 - 1
3-49934631-C-G c.2183+82G>C - IntronicSNV - 7/19 1
3-49934683-G-A c.2183+30C>T - IntronicSNV - 7/19 2
3-49934714-G-A c.2182C>T p.R728W Missense 7/20 - 3
3-49934716-G-A c.2180C>T p.A727V Missense 7/20 - 1
3-49934725-C-G c.2171G>C p.C724S Missense 7/20 - 1
3-49934726-A-T c.2170T>A p.C724S Missense 7/20 - 1
3-49934727-C-G c.2169G>C p.E723D Missense 7/20 - 1
3-49934732-T-C c.2164A>G p.T722A Missense 7/20 - 2
3-49934739-G-A c.2157C>T p.V719= Synonymous 7/20 - 1
3-49934739-G-C c.2157C>G p.V719= Synonymous 7/20 - 1
3-49934739-G-T c.2157C>A p.V719= Synonymous 7/20 - 1
3-49934741-C-T c.2155G>A p.V719I Missense 7/20 - 1
3-49934745-CAC-AAA c.2149_2151delinsTTT p.V717F Missense 7/20 - 1
3-49934747-C-T c.2149G>A p.V717M Missense 7/20 - 3
3-49934752-CG-TA c.2143_2144delinsTA p.R715* Nonsense 7/20 - 1
3-49934752-C-T c.2144G>A p.R715Q Missense 7/20 - 1
3-49934753-G-A c.2143C>T p.R715W Missense 7/20 - 2
3-49934753-G-C c.2143C>G p.R715G Missense 7/20 - 1
3-49934754-G-C c.2142C>G p.S714R Missense 7/20 - 1
3-49934754-G-T c.2142C>A p.S714R Missense 7/20 - 1
3-49934756-T-G c.2140A>C p.S714R Missense 7/20 - 1
3-49934757-G-A c.2139C>T p.T713= Synonymous 7/20 - 1
3-49934761-C-G c.2135G>C p.G712A Missense 7/20 - 1
3-49934764-A-C c.2132T>G p.V711G Missense 7/20 - 1
3-49934765-C-A c.2131G>T p.V711L Missense 7/20 - 1
3-49934765-C-T c.2131G>A p.V711I Missense 7/20 - 1
3-49934767-GA-TT c.2128_2129delinsAA p.S710N Missense 7/20 - 1
3-49934763-TACAG-T c.2129_2132del p.S710* Frameshift 7/20 - 1
3-49934777-G-C c.2119C>G p.Q707E Missense 7/20 - 1
3-49934780-C-A c.2116G>T p.G706C Missense 7/20 - 1
3-49934780-C-T c.2116G>A p.G706S Missense 7/20 - 1
3-49934782-TC-CT c.2113_2114delinsAG p.E705R Missense 7/20 - 1
3-49934783-C-G c.2113G>C p.E705Q Missense 7/20 - 2
3-49934783-C-T c.2113G>A p.E705K Missense 7/20 - 2
3-49934787-AG-CA c.2108_2109delinsTG p.T703M Missense 7/20 - 1
3-49934792-G-A c.2104C>T p.L702F Missense 7/20 - 1
3-49934796-G-A c.2100C>T p.T700= Synonymous 7/20 - 2
3-49934802-TCC-GCT c.2092_2094delinsAGC p.G698S Missense 7/20 - 1
3-49934815-C-T c.2081G>A p.G694D Missense 7/20 - 1
3-49934818-A-G c.2078T>C p.F693S Missense 7/20 - 1
3-49934828-G-A c.2068C>T p.Q690* Nonsense 7/20 - 2
3-49934829-C-A c.2067G>T p.V689= Synonymous 7/20 - 2
3-49934839-A-G c.2057T>C p.L686P Missense 7/20 - 6
3-49934845-G-A c.2051C>T p.P684L Missense 7/20 - 1
3-49934846-G-A c.2050C>T p.P684S Missense 7/20 - 1
3-49934849-C-T c.2047G>A p.E683K Missense 7/20 - 2
3-49934952-C-T c.2046+1G>A - IntronicSNV - 6/19 1
3-49934955-T-C c.2044A>G p.M682V Missense 6/20 - 1
3-49934960-GA-AG c.2038_2039delinsCT p.S680L Missense 6/20 - 1
3-49934966-C-T c.2033G>A p.G678D Missense 6/20 - 1
3-49934969-C-T c.2030G>A p.R677K Missense 6/20 - 1
3-49934971-C-A c.2028G>T p.L676= Synonymous 6/20 - 2
3-49934971-C-G c.2028G>C p.L676= Synonymous 6/20 - 1
3-49934971-C-T c.2028G>A p.L676= Synonymous 6/20 - 1
3-49934973-G-A c.2026C>T p.L676= Synonymous 6/20 - 4
3-49934975-A-G c.2024T>C p.V675A Missense 6/20 - 1
3-49934975-CA-C c.2024del p.V675Gfs*2 Frameshift 6/20 - 1
3-49934978-G-A c.2021C>T p.S674F Missense 6/20 - 7
3-49934981-G-A c.2018C>T p.T673I Missense 6/20 - 1
3-49934983-G-A c.2016C>T p.G672= Synonymous 6/20 - 1
3-49934983-G-C c.2016C>G p.G672= Synonymous 6/20 - 1
3-49934983-G-T c.2016C>A p.G672= Synonymous 6/20 - 1
3-49934985-C-T c.2014G>A p.G672S Missense 6/20 - 7
3-49934986-G-A c.2013C>T p.D671= Synonymous 6/20 - 2
3-49934990-A-C c.2009T>G p.V670G Missense 6/20 - 10
3-49934992-C-A c.2007G>T p.R669= Synonymous 6/20 - 2
3-49934992-C-G c.2007G>C p.R669= Synonymous 6/20 - 1
3-49934992-C-T c.2007G>A p.R669= Synonymous 6/20 - 1
3-49934994-G-A c.2005C>T p.R669W Missense 6/20 - 1
3-49934994-G-T c.2005C>A p.R669= Synonymous 6/20 - 1
3-49935000-G-A c.1999C>T p.H667Y Missense 6/20 - 1
3-49935001-CT-C c.1997del p.K666Sfs*5 Frameshift 6/20 - 1
3-49935006-C-T c.1993G>A p.G665S Missense 6/20 - 1
3-49935007-C-T c.1992G>A p.P664= Synonymous 6/20 - 2
3-49935008-G-A c.1991C>T p.P664L Missense 6/20 - 4
3-49935009-G-C c.1990C>G p.P664A Missense 6/20 - 1
3-49935011-GGCAT-A c.1984_1988delinsT p.M662Yfs*8 Frameshift 6/20 - 1
3-49935020-G-T c.1979C>A p.T660N Missense 6/20 - 1
3-49935024-C-T c.1975G>A p.V659M Missense 6/20 - 2
3-49935025-G-A c.1974C>T p.T658= Synonymous 6/20 - 2
3-49935025-G-C c.1974C>G p.T658= Synonymous 6/20 - 1
3-49935025-G-T c.1974C>A p.T658= Synonymous 6/20 - 1
3-49935028-GA-TT c.1970_1971delinsAA p.L657Q Missense 6/20 - 1
3-49935030-G-C c.1969C>G p.L657V Missense 6/20 - 1
3-49935032-C-T c.1967G>A p.S656N Missense 6/20 - 1
3-49935036-C-T c.1963G>A p.V655I Missense 6/20 - 2
3-49935042-T-C c.1957A>G p.T653A Missense 6/20 - 1
3-49935044-G-A c.1955C>T p.P652L Missense 6/20 - 1
3-49935045-G-A c.1954C>T p.P652S Missense 6/20 - 1
3-49935049-C-A c.1950G>T p.V650= Synonymous 6/20 - 2
3-49935049-C-G c.1950G>C p.V650= Synonymous 6/20 - 1
3-49935049-C-T c.1950G>A p.V650= Synonymous 6/20 - 1
3-49935057-G-T c.1942C>A p.Q648K Missense 6/20 - 1
3-49935058-G-A c.1941C>T p.T647= Synonymous 6/20 - 1
3-49935058-G-C c.1941C>G p.T647= Synonymous 6/20 - 1
3-49935058-G-T c.1941C>A p.T647= Synonymous 6/20 - 1
3-49935062-C-G c.1937G>C p.G646A Missense 6/20 - 2
3-49935063-C-A c.1936G>T p.G646C Missense 6/20 - 2
3-49935069-G-A c.1930C>T p.P644S Missense 6/20 - 1
3-49935074-A-T c.1925T>A p.L642Q Missense 6/20 - 1
3-49935078-C-T c.1921G>A p.E641K Missense 6/20 - 1
3-49935084-C-G c.1915G>C p.E639Q Missense 6/20 - 4
3-49935088-C-T c.1911G>A p.E637= Synonymous 6/20 - 1
3-49935091-C-A c.1908G>T p.E636D Missense 6/20 - 1
3-49935096-C-T c.1903G>A p.V635I Missense 6/20 - 1
3-49935100-G-T c.1899C>A p.D633E Missense 6/20 - 1
3-49935106-CCG-ACA c.1891_1893delinsTGT p.R631C Missense 6/20 - 1
3-49935107-C-T c.1892G>A p.R631Q Missense 6/20 - 2
3-49935108-G-A c.1891C>T p.R631W Missense 6/20 - 1
3-49935118-T-C c.1881A>G p.R627= Synonymous 6/20 - 1
3-49935485-T-G c.1879A>C p.R627= Synonymous 5/20 - 1
3-49935443-T-A c.1880+41A>T - IntronicSNV - 5/19 1
3-49935462-G-C c.1880+22C>G - IntronicSNV - 5/19 1
3-49935482-A-G c.1880+2T>C - IntronicSNV - 5/19 1
3-49935493-G-C c.1871C>G p.S624* Nonsense 5/20 - 1
3-49935496-C-G c.1868G>C p.S623T Missense 5/20 - 1
3-49935496-C-T c.1868G>A p.S623N Missense 5/20 - 1
3-49935496-CT-GC c.1867_1868delinsGC p.S623A Missense 5/20 - 1
3-49935500-C-T c.1864G>A p.D622N Missense 5/20 - 1
3-49935503-T-A c.1861A>T p.K621* Nonsense 5/20 - 5
3-49935503-T-C c.1861A>G p.K621E Missense 5/20 - 2
3-49935512-G-A c.1852C>T p.P618S Missense 5/20 - 1
3-49935513-C-T c.1851G>A p.R617= Synonymous 5/20 - 1
3-49935514-C-T c.1850G>A p.R617Q Missense 5/20 - 1
3-49935517-C-T c.1847G>A p.C616Y Missense 5/20 - 1
3-49935519-G-A c.1845C>T p.P615= Synonymous 5/20 - 1
3-49935520-G-A c.1844C>T p.P615L Missense 5/20 - 1
3-49935521-G-A c.1843C>T p.P615S Missense 5/20 - 8
3-49935525-T-C c.1839A>G p.Q613= Synonymous 5/20 - 1
3-49935526-T-G c.1838A>C p.Q613P Missense 5/20 - 8
3-49935528-G-A c.1836C>T p.G612= Synonymous 5/20 - 1
3-49935528-GCC-CCA c.1834_1836delinsTGG p.G612W Missense 5/20 - 1
3-49935529-C-T c.1835G>A p.G612D Missense 5/20 - 1
3-49935535-G-C c.1829C>G p.T610S Missense 5/20 - 1
3-49935537-G-A c.1827C>T p.V609= Synonymous 5/20 - 2
3-49935540-C-A c.1824G>T p.Q608H Missense 5/20 - 2
3-49935540-C-G c.1824G>C p.Q608H Missense 5/20 - 1
3-49935544-T-G c.1820A>C p.H607P Missense 5/20 - 1
3-49935546-G-A c.1818C>T p.T606= Synonymous 5/20 - 1
3-49935547-G-A c.1817C>T p.T606I Missense 5/20 - 2
3-49935550-C-A c.1814G>T p.G605V Missense 5/20 - 3
3-49935550-CC-GT c.1813_1814delinsAC p.G605T Missense 5/20 - 1
3-49935554-C-A c.1810G>T p.E604* Nonsense 5/20 - 1
3-49935554-C-G c.1810G>C p.E604Q Missense 5/20 - 1
3-49935557-G-A c.1807C>T p.P603S Missense 5/20 - 1
3-49935557-G-C c.1807C>G p.P603A Missense 5/20 - 1
3-49935558-CAC-AAA c.1804_1806delinsTTT p.V602F Missense 5/20 - 1
3-49935560-C-T c.1804G>A p.V602M Missense 5/20 - 1
3-49935561-C-A c.1803G>T p.L601= Synonymous 5/20 - 2
3-49935571-G-A c.1793C>T p.P598L Missense 5/20 - 1
3-49935574-T-A c.1790A>T p.H597L Missense 5/20 - 1
3-49935580-T-A c.1784A>T p.Y595F Missense 5/20 - 1
3-49935584-A-T c.1780T>A p.F594I Missense 5/20 - 1
3-49935585-GTT-TTG c.1777_1779delinsCAA p.N593Q Missense 5/20 - 1
3-49935589-G-C c.1775C>G p.S592C Missense 5/20 - 2
3-49935590-A-G c.1774T>C p.S592P Missense 5/20 - 1
3-49935592-C-T c.1772G>A p.G591D Missense 5/20 - 1
3-49935593-C-A c.1771G>T p.G591C Missense 5/20 - 1
3-49935595-C-T c.1769G>A p.C590Y Missense 5/20 - 1
3-49935600-G-A c.1764C>T p.T588= Synonymous 5/20 - 1
3-49935600-G-C c.1764C>G p.T588= Synonymous 5/20 - 1
3-49935600-G-T c.1764C>A p.T588= Synonymous 5/20 - 1
3-49935601-G-A c.1763C>T p.T588I Missense 5/20 - 1
3-49935603-C-T c.1761G>A p.L587= Synonymous 5/20 - 1
3-49935611-T-C c.1753A>G p.T585A Missense 5/20 - 1
3-49935619-C-G c.1745G>C p.R582T Missense 5/20 - 3
3-49935619-C-T c.1745G>A p.R582K Missense 5/20 - 2
3-49935623-G-A c.1741C>T p.L581= Synonymous 5/20 - 1
3-49935623-G-T c.1741C>A p.L581I Missense 5/20 - 1
3-49935627-T-A c.1737A>T p.G579= Synonymous 5/20 - 1
3-49935627-T-C c.1737A>G p.G579= Synonymous 5/20 - 1
3-49935627-TCC-ACA c.1735_1737delinsTGT p.G579C Missense 5/20 - 1
3-49935627-T-G c.1737A>C p.G579= Synonymous 5/20 - 1
3-49935630-A-C c.1734T>G p.S578R Missense 5/20 - 1
3-49935631-C-G c.1733G>C p.S578T Missense 5/20 - 1
3-49935636-G-A c.1728C>T p.P576= Synonymous 5/20 - 2
3-49935634-TG-T c.1729del p.H577Tfs*5 Frameshift 5/20 - 1
3-49935642-G-A c.1722C>T p.F574= Synonymous 5/20 - 4
3-49935644-A-G c.1720T>C p.F574L Missense 5/20 - 1
3-49935923-TTA-T c.1719+27_1719+28del - IntronicDeletion - 4/19 1
3-49935950-C-A c.1719+1G>T - IntronicSNV - 4/19 1
3-49935952-T-A c.1718A>T p.E573V Missense 4/20 - 1
3-49935953-C-T c.1717G>A p.E573K Missense 4/20 - 1
3-49935955-G-A c.1715C>T p.T572I Missense 4/20 - 1
3-49935957-AAG-CTC c.1711_1713delinsGAG p.L571E Missense 4/20 - 1
3-49935960-C-A c.1710G>T p.K570N Missense 4/20 - 1
3-49935961-T-C c.1709A>G p.K570R Missense 4/20 - 1
3-49935967-G-T c.1703C>A p.P568Q Missense 4/20 - 1
3-49935968-G-C c.1702C>G p.P568A Missense 4/20 - 2
3-49935968-G-T c.1702C>A p.P568T Missense 4/20 - 1
3-49935971-A-C c.1699T>G p.C567G Missense 4/20 - 1
3-49935973-T-A c.1697A>T p.H566L Missense 4/20 - 1
3-49935976-T-A c.1694A>T p.D565V Missense 4/20 - 2
3-49935976-T-G c.1694A>C p.D565A Missense 4/20 - 1
3-49935978-C-A c.1692G>T p.Q564H Missense 4/20 - 1
3-49935978-C-G c.1692G>C p.Q564H Missense 4/20 - 1
3-49935980-G-A c.1690C>T p.Q564* Nonsense 4/20 - 1
3-49935983-G-A c.1687C>T p.Q563* Nonsense 4/20 - 1
3-49935987-GG-TT c.1682_1683delinsAA p.S561* Nonsense 4/20 - 1
3-49935993-A-C c.1677T>G p.P559= Synonymous 4/20 - 1
3-49935993-A-G c.1677T>C p.P559= Synonymous 4/20 - 1
3-49935993-A-T c.1677T>A p.P559= Synonymous 4/20 - 1
3-49935994-G-T c.1676C>A p.P559H Missense 4/20 - 1
3-49935997-C-A c.1673G>T p.C558F Missense 4/20 - 1
3-49936007-G-A c.1663C>T p.Q555* Nonsense 4/20 - 1
3-49936008-C-T c.1662G>A p.Q554= Synonymous 4/20 - 1
3-49936010-G-A c.1660C>T p.Q554* Nonsense 4/20 - 1
3-49936013-C-T c.1657G>A p.G553S Missense 4/20 - 1
3-49936014-G-A c.1656C>T p.C552= Synonymous 4/20 - 1
3-49936017-C-A c.1653G>T p.M551I Missense 4/20 - 1
3-49936017-C-G c.1653G>C p.M551I Missense 4/20 - 1
3-49936017-C-T c.1653G>A p.M551I Missense 4/20 - 1
3-49936019-T-TG c.1650dup p.M551Hfs*20 Frameshift 4/20 - 1
3-49936020-G-C c.1650C>G p.N550K Missense 4/20 - 2
3-49936020-G-T c.1650C>A p.N550K Missense 4/20 - 2
3-49936021-T-C c.1649A>G p.N550S Missense 4/20 - 1
3-49936027-C-T c.1643G>A p.C548Y Missense 4/20 - 1
3-49936028-A-C c.1642T>G p.C548G Missense 4/20 - 2
3-49936032-GC-CT c.1637_1638delinsAG p.G546E Missense 4/20 - 1
3-49936034-C-A c.1636G>T p.G546C Missense 4/20 - 1
3-49936034-C-T c.1636G>A p.G546S Missense 4/20 - 1
3-49936035-A-C c.1635T>G p.C545W Missense 4/20 - 1
3-49936036-C-A c.1634G>T p.C545F Missense 4/20 - 1
3-49936036-CA-GT c.1633_1634delinsAC p.C545T Missense 4/20 - 1
3-49936038-G-A c.1632C>T p.G544= Synonymous 4/20 - 4
3-49936038-G-C c.1632C>G p.G544= Synonymous 4/20 - 3
3-49936038-G-T c.1632C>A p.G544= Synonymous 4/20 - 4
3-49936039-C-A c.1631G>T p.G544V Missense 4/20 - 1
3-49936043-T-A c.1627A>T p.M543L Missense 4/20 - 2
3-49936043-T-G c.1627A>C p.M543L Missense 4/20 - 4
3-49936047-A-G c.1623T>C p.H541= Synonymous 4/20 - 1
3-49936049-G-C c.1621C>G p.H541D Missense 4/20 - 1
3-49936050-C-T c.1620G>A p.W540* Nonsense 4/20 - 2
3-49936051-C-T c.1619G>A p.W540* Nonsense 4/20 - 3
3-49936054-G-A c.1616C>T p.A539V Missense 4/20 - 1
3-49936055-C-T c.1615G>A p.A539T Missense 4/20 - 1
3-49936057-C-G c.1613G>C p.R538T Missense 4/20 - 1
3-49936061-G-A c.1609C>T p.L537= Synonymous 4/20 - 1
3-49936064-A-G c.1606T>C p.C536R Missense 4/20 - 1
3-49936067-G-A c.1603C>T p.R535C Missense 4/20 - 3
3-49936072-CA-GT c.1597_1598delinsAC p.C533T Missense 4/20 - 1
3-49936080-G-A c.1590C>T p.F530= Synonymous 4/20 - 1
3-49936086-GC-TT c.1583_1584delinsAA p.R528Q Missense 4/20 - 1
3-49936088-G-A c.1582C>T p.R528C Missense 4/20 - 2
3-49936089-G-A c.1581C>T p.C527= Synonymous 4/20 - 1
3-49936093-C-A c.1577G>T p.G526V Missense 4/20 - 1
3-49936093-CC-GT c.1576_1577delinsAC p.G526T Missense 4/20 - 1
3-49936096-G-T c.1574C>A p.P525H Missense 4/20 - 1
3-49936097-G-A c.1573C>T p.P525S Missense 4/20 - 2
3-49936097-G-C c.1573C>G p.P525A Missense 4/20 - 1
3-49936097-G-T c.1573C>A p.P525T Missense 4/20 - 1
3-49936099-C-G c.1571G>C p.G524A Missense 4/20 - 1
3-49936101-T-C c.1569A>G p.Q523= Synonymous 4/20 - 1
3-49936102-T-A c.1568A>T p.Q523L Missense 4/20 - 10
3-49936102-T-C c.1568A>G p.Q523R Missense 4/20 - 40
3-49936102-T-G c.1568A>C p.Q523P Missense 4/20 - 2
3-49936103-G-C c.1567C>G p.Q523E Missense 4/20 - 1
3-49936104-G-C c.1566C>G p.I522M Missense 4/20 - 1
3-49936111-A-G c.1559T>C p.V520A Missense 4/20 - 2
3-49936121-C-A c.1549G>T p.V517F Missense 4/20 - 1
3-49936122-C-T c.1549-1G>A - IntronicSNV - 3/19 1
3-49936278-G-A c.1548+22C>T - IntronicSNV - 3/19 1
3-49936281-C-A c.1548+19G>T - IntronicSNV - 3/19 1
3-49936293-A-G c.1548+7T>C - IntronicSNV - 3/19 1
3-49936304-T-A c.1544A>T p.D515V Missense 3/20 - 1
3-49936306-C-A c.1542G>T p.G514= Synonymous 3/20 - 1
3-49936308-C-G c.1540G>C p.G514R Missense 3/20 - 1
3-49936308-C-T c.1540G>A p.G514R Missense 3/20 - 1
3-49936310-GA-CG c.1537_1538delinsCG p.S513R Missense 3/20 - 2
3-49936316-A-C c.1532T>G p.F511C Missense 3/20 - 1
3-49936316-A-G c.1532T>C p.F511S Missense 3/20 - 1
3-49936315-A-C c.1533T>G p.F511L Missense 3/20 - 1
3-49936315-A-T c.1533T>A p.F511L Missense 3/20 - 1
3-49936317-A-G c.1531T>C p.F511L Missense 3/20 - 1
3-49936318-G-A c.1530C>T p.L510= Synonymous 3/20 - 1
3-49936321-T-A c.1527A>T p.L509= Synonymous 3/20 - 1
3-49936321-T-C c.1527A>G p.L509= Synonymous 3/20 - 1
3-49936321-T-G c.1527A>C p.L509= Synonymous 3/20 - 1
3-49936322-A-T c.1526T>A p.L509Q Missense 3/20 - 1
3-49936323-G-A c.1525C>T p.L509= Synonymous 3/20 - 2
3-49936335-G-A c.1513C>T p.L505F Missense 3/20 - 1
3-49936337-C-T c.1511G>A p.R504H Missense 3/20 - 5
3-49936338-G-A c.1510C>T p.R504C Missense 3/20 - 7
3-49936342-G-A c.1506C>T p.V502= Synonymous 3/20 - 1
3-49936348-CC-AT c.1499_1500delinsAT p.R500H Missense 3/20 - 1
3-49936348-CCG-ACA c.1498_1500delinsTGT p.R500C Missense 3/20 - 1
3-49936349-C-T c.1499G>A p.R500Q Missense 3/20 - 3
3-49936356-C-T c.1492G>A p.V498M Missense 3/20 - 4
3-49936357-GG-TT c.1490_1491delinsAA p.P497Q Missense 3/20 - 1
3-49936360-C-T c.1488G>A p.Q496= Synonymous 3/20 - 2
3-49936364-C-T c.1484G>A p.G495E Missense 3/20 - 1
3-49936365-C-G c.1483G>C p.G495R Missense 3/20 - 1
3-49936365-C-T c.1483G>A p.G495R Missense 3/20 - 2
3-49936367-C-A c.1481G>T p.S494I Missense 3/20 - 1
3-49936371-C-A c.1477G>T p.D493Y Missense 3/20 - 1
3-49936371-C-G c.1477G>C p.D493H Missense 3/20 - 1
3-49936371-C-T c.1477G>A p.D493N Missense 3/20 - 1
3-49936372-AC-A c.1475del p.G492Vfs*40 Frameshift 3/20 - 1
3-49936375-CAG-AAA c.1471_1473delinsTTT p.L491F Missense 3/20 - 1
3-49936376-A-C c.1472T>G p.L491R Missense 3/20 - 1
3-49936384-G-A c.1464C>T p.N488= Synonymous 3/20 - 1
3-49936388-GA-TC c.1459_1460inv p.S487D Missense 3/20 - 1
3-49936390-CAC-GAT c.1456_1458delinsATC p.V486I Missense 3/20 - 1
3-49936391-A-G c.1457T>C p.V486A Missense 3/20 - 2
3-49936397-A-G c.1451T>C p.L484P Missense 3/20 - 1
3-49936399-C-A c.1449G>T p.L483F Missense 3/20 - 1
3-49936399-C-G c.1449G>C p.L483F Missense 3/20 - 1
3-49936402-G-A c.1446C>T p.Y482= Synonymous 3/20 - 1
3-49936412-G-A c.1436C>T p.S479L Missense 3/20 - 1
3-49936417-GAC-CAT c.1429_1431delinsATG p.V477M Missense 3/20 - 1
3-49936419-C-A c.1429G>T p.V477F Missense 3/20 - 1
3-49936419-C-T c.1429G>A p.V477I Missense 3/20 - 1
3-49936422-G-A c.1426C>T p.L476= Synonymous 3/20 - 1
3-49936425-C-A c.1423G>T p.E475* Nonsense 3/20 - 1
3-49936428-C-T c.1420G>A p.V474M Missense 3/20 - 1
3-49936492-G-A c.1419+16C>T - IntronicSNV - 2/19 1
3-49936510-G-A c.1417C>T p.Q473* Nonsense 2/20 - 1
3-49936513-G-A c.1414C>T p.L472= Synonymous 2/20 - 1
3-49936513-G-T c.1414C>A p.L472M Missense 2/20 - 3
3-49936518-C-T c.1409G>A p.R470H Missense 2/20 - 3
3-49936519-G-A c.1408C>T p.R470C Missense 2/20 - 5
3-49936525-C-T c.1402G>A p.D468N Missense 2/20 - 1
3-49936526-C-A c.1401G>T p.M467I Missense 2/20 - 1
3-49936527-A-C c.1400T>G p.M467R Missense 2/20 - 1
3-49936533-C-A c.1394G>T p.G465V Missense 2/20 - 1
3-49936533-C-T c.1394G>A p.G465D Missense 2/20 - 2
3-49936534-C-G c.1393G>C p.G465R Missense 2/20 - 1
3-49936534-C-T c.1393G>A p.G465S Missense 2/20 - 1
3-49936537-T-C c.1390A>G p.M464V Missense 2/20 - 4
3-49936542-G-C c.1385C>G p.A462G Missense 2/20 - 1
3-49936543-C-A c.1384G>T p.A462S Missense 2/20 - 1
3-49936544-CAC-GAT c.1381_1383delinsATC p.V461I Missense 2/20 - 1
3-49936551-AC-GT c.1375_1376inv p.V459T Missense 2/20 - 1
3-49936552-C-T c.1375G>A p.V459I Missense 2/20 - 1
3-49936553-G-A c.1374C>T p.N458= Synonymous 2/20 - 1
3-49936553-G-T c.1374C>A p.N458K Missense 2/20 - 1
3-49936554-T-A c.1373A>T p.N458I Missense 2/20 - 2
3-49936555-T-A c.1372A>T p.N458Y Missense 2/20 - 8
3-49936555-T-C c.1372A>G p.N458D Missense 2/20 - 1
3-49936555-T-G c.1372A>C p.N458H Missense 2/20 - 1
3-49936563-C-T c.1364G>A p.R455H Missense 2/20 - 4
3-49936564-G-A c.1363C>T p.R455C Missense 2/20 - 3
3-49936566-G-A c.1361C>T p.T454I Missense 2/20 - 1
3-49936568-C-A c.1359G>T p.V453= Synonymous 2/20 - 1
3-49936568-C-G c.1359G>C p.V453= Synonymous 2/20 - 1
3-49936568-C-T c.1359G>A p.V453= Synonymous 2/20 - 1
3-49936569-CACA-C c.1356_1358del p.Y452_V453delins* MultiAAMissense 2/20 - 1
3-49936581-GT-AC c.1345_1346inv p.T449V Missense 2/20 - 1
3-49936582-T-G c.1345A>C p.T449P Missense 2/20 - 1
3-49936585-C-T c.1342G>A p.V448I Missense 2/20 - 1
3-49936589-T-A c.1338A>T p.V446= Synonymous 2/20 - 1
3-49936589-T-C c.1338A>G p.V446= Synonymous 2/20 - 3
3-49936589-T-G c.1338A>C p.V446= Synonymous 2/20 - 1
3-49936591-C-G c.1336G>C p.V446L Missense 2/20 - 1
3-49936596-C-G c.1331G>C p.G444A Missense 2/20 - 1
3-49936606-C-G c.1321G>C p.G441R Missense 2/20 - 1
3-49936607-A-C c.1320T>G p.N440K Missense 2/20 - 2
3-49936607-A-T c.1320T>A p.N440K Missense 2/20 - 2
3-49936608-T-C c.1319A>G p.N440S Missense 2/20 - 4
3-49936613-T-A c.1314A>T p.L438= Synonymous 2/20 - 1
3-49936613-T-C c.1314A>G p.L438= Synonymous 2/20 - 1
3-49936613-T-G c.1314A>C p.L438= Synonymous 2/20 - 1
3-49936615-G-A c.1312C>T p.L438= Synonymous 2/20 - 1
3-49936614-A-T c.1313T>A p.L438Q Missense 2/20 - 1
3-49936621-C-A c.1306G>T p.V436L Missense 2/20 - 3
3-49936621-C-G c.1306G>C p.V436L Missense 2/20 - 1
3-49936623-C-T c.1304G>A p.R435H Missense 2/20 - 1
3-49936624-G-A c.1303C>T p.R435C Missense 2/20 - 3
3-49936626-G-A c.1301C>T p.S434L Missense 2/20 - 3
3-49936626-G-T c.1301C>A p.S434* Nonsense 2/20 - 1
3-49936630-A-C c.1297T>G p.F433V Missense 2/20 - 2
3-49936631-G-A c.1296C>T p.S432= Synonymous 2/20 - 3
3-49936635-C-A c.1292G>T p.S431I Missense 2/20 - 1
3-49936650-G-T c.1277C>A p.P426H Missense 2/20 - 1
3-49936653-A-C c.1274T>G p.F425C Missense 2/20 - 1
3-49936659-C-T c.1268G>A p.R423H Missense 2/20 - 1
3-49936661-G-A c.1266C>T p.C422= Synonymous 2/20 - 1
3-49936661-G-C c.1266C>G p.C422W Missense 2/20 - 1
3-49936665-CT-GC c.1261_1262delinsGC p.S421A Missense 2/20 - 1
3-49936668-G-A c.1259C>T p.T420I Missense 2/20 - 2
3-49936679-G-A c.1248C>T p.L416= Synonymous 2/20 - 1
3-49936679-G-C c.1248C>G p.L416= Synonymous 2/20 - 1
3-49936679-G-T c.1248C>A p.L416= Synonymous 2/20 - 1
3-49936682-G-A c.1245C>T p.A415= Synonymous 2/20 - 1
3-49936682-G-C c.1245C>G p.A415= Synonymous 2/20 - 1
3-49936682-G-T c.1245C>A p.A415= Synonymous 2/20 - 1
3-49936687-C-T c.1240G>A p.E414K Missense 2/20 - 1
3-49936688-C-A c.1239G>T p.L413= Synonymous 2/20 - 2
3-49936688-C-G c.1239G>C p.L413= Synonymous 2/20 - 2
3-49936688-C-T c.1239G>A p.L413= Synonymous 2/20 - 2
3-49936690-G-A c.1237C>T p.L413= Synonymous 2/20 - 2
3-49936692-C-A c.1235G>T p.G412V Missense 2/20 - 1
3-49936692-C-G c.1235G>C p.G412A Missense 2/20 - 1
3-49936693-C-T c.1234G>A p.G412S Missense 2/20 - 1
3-49936694-CAGG-C c.1231_1233del p.P411del SpliceAcceptorDeletion 2/20 - 1
3-49936715-G-A c.1231-19C>T - IntronicSNV - 1/19 2
3-49937505-T-C c.1231-809A>G - IntronicSNV - 1/19 2
3-49938227-C-G c.1231-1531G>C - IntronicSNV - 1/19 2
3-49938227-C-T c.1231-1531G>A - IntronicSNV - 1/19 2
3-49939120-G-T c.1230+693C>A - IntronicSNV - 1/19 1
3-49939503-C-A c.1230+310G>T - IntronicSNV - 1/19 1
3-49939503-C-G c.1230+310G>C - IntronicSNV - 1/19 1
3-49939503-C-T c.1230+310G>A - IntronicSNV - 1/19 1
3-49939587-G-A c.1230+226C>T - IntronicSNV - 1/19 1
3-49939811-A-G c.1230+2T>C - IntronicSNV - 1/19 1
3-49939814-G-A c.1229C>T p.P410L Missense 1/20 - 1
3-49939823-CA-GT c.1219_1220delinsAC p.C407T Missense 1/20 - 1
3-49939824-A-C c.1219T>G p.C407G Missense 1/20 - 1
3-49939824-A-G c.1219T>C p.C407R Missense 1/20 - 1
3-49939825-A-G c.1218T>C p.F406= Synonymous 1/20 - 1
3-49939830-T-C c.1213A>G p.S405G Missense 1/20 - 1
3-49939832-G-A c.1211C>T p.P404L Missense 1/20 - 1
3-49939834-C-A c.1209G>T p.S403= Synonymous 1/20 - 1
3-49939834-C-G c.1209G>C p.S403= Synonymous 1/20 - 1
3-49939834-C-T c.1209G>A p.S403= Synonymous 1/20 - 1
3-49939835-G-A c.1208C>T p.S403L Missense 1/20 - 1
3-49939838-T-A c.1205A>T p.Q402L Missense 1/20 - 1
3-49939840-G-T c.1203C>A p.F401L Missense 1/20 - 3
3-49939841-A-C c.1202T>G p.F401C Missense 1/20 - 1
3-49939840-G-C c.1203C>G p.F401L Missense 1/20 - 2
3-49939842-A-G c.1201T>C p.F401L Missense 1/20 - 2
3-49939843-G-T c.1200C>A p.F400L Missense 1/20 - 1
3-49939850-A-G c.1193T>C p.L398P Missense 1/20 - 1
3-49939852-GC-CT c.1190_1191delinsAG p.G397E Missense 1/20 - 1
3-49939853-C-T c.1190G>A p.G397D Missense 1/20 - 1
3-49939856-C-T c.1187G>A p.R396Q Missense 1/20 - 2
3-49939857-G-A c.1186C>T p.R396* Nonsense 1/20 - 5
3-49939859-CG-TA c.1183_1184delinsTA p.R395* Nonsense 1/20 - 1
3-49939858-C-A c.1185G>T p.R395= Synonymous 1/20 - 1
3-49939858-C-G c.1185G>C p.R395= Synonymous 1/20 - 1
3-49939858-C-T c.1185G>A p.R395= Synonymous 1/20 - 1
3-49939860-G-T c.1183C>A p.R395= Synonymous 1/20 - 1
3-49939861-G-A c.1182C>T p.L394= Synonymous 1/20 - 1
3-49939864-G-T c.1179C>A p.G393= Synonymous 1/20 - 2
3-49939865-C-A c.1178G>T p.G393V Missense 1/20 - 1
3-49939866-C-T c.1177G>A p.G393S Missense 1/20 - 1
3-49939868-G-T c.1175C>A p.P392Q Missense 1/20 - 1
3-49939872-G-A c.1171C>T p.H391Y Missense 1/20 - 1
3-49939873-G-A c.1170C>T p.V390= Synonymous 1/20 - 3
3-49939873-GAC-CAT c.1168_1170delinsATG p.V390M Missense 1/20 - 1
3-49939879-G-A c.1164C>T p.S388= Synonymous 1/20 - 1
3-49939880-G-A c.1163C>T p.S388F Missense 1/20 - 4
3-49939881-A-T c.1162T>A p.S388T Missense 1/20 - 1
3-49939884-C-T c.1159G>A p.E387K Missense 1/20 - 1
3-49939885-A-G c.1158T>C p.C386= Synonymous 1/20 - 2
3-49939887-A-C c.1156T>G p.C386G Missense 1/20 - 1
3-49939889-C-A c.1154G>T p.C385F Missense 1/20 - 2
3-49939889-CA-GC c.1153_1154delinsGC p.C385A Missense 1/20 - 4
3-49939889-C-T c.1154G>A p.C385Y Missense 1/20 - 1
3-49939890-A-G c.1153T>C p.C385R Missense 1/20 - 1
3-49939893-G-A c.1150C>T p.R384C Missense 1/20 - 1
3-49939896-C-G c.1147G>C p.E383Q Missense 1/20 - 1
3-49939896-C-T c.1147G>A p.E383K Missense 1/20 - 1
3-49939902-C-T c.1141G>A p.G381S Missense 1/20 - 1
3-49939905-C-T c.1138G>A p.E380K Missense 1/20 - 1
3-49939908-C-T c.1135G>A p.D379N Missense 1/20 - 7
3-49939910-A-G c.1133T>C p.I378T Missense 1/20 - 1
3-49939911-T-C c.1132A>G p.I378V Missense 1/20 - 1
3-49939913-A-G c.1130T>C p.L377P Missense 1/20 - 1
3-49939917-T-C c.1126A>G p.T376A Missense 1/20 - 1
3-49939927-G-C c.1116C>G p.D372E Missense 1/20 - 2
3-49939927-G-T c.1116C>A p.D372E Missense 1/20 - 2
3-49939929-C-G c.1114G>C p.D372H Missense 1/20 - 1
3-49939929-C-T c.1114G>A p.D372N Missense 1/20 - 2
3-49939935-G-A c.1108C>T p.P370S Missense 1/20 - 1
3-49939945-G-A c.1098C>T p.V366= Synonymous 1/20 - 2
3-49939945-G-C c.1098C>G p.V366= Synonymous 1/20 - 1
3-49939945-G-T c.1098C>A p.V366= Synonymous 1/20 - 1
3-49939947-C-A c.1096G>T p.V366F Missense 1/20 - 2
3-49939947-C-T c.1096G>A p.V366I Missense 1/20 - 2
3-49939950-C-T c.1093G>A p.V365I Missense 1/20 - 2
3-49939952-G-T c.1091C>A p.S364Y Missense 1/20 - 1
3-49939955-T-G c.1088A>C p.N363T Missense 1/20 - 1
3-49939960-G-A c.1083C>T p.G361= Synonymous 1/20 - 2
3-49939963-C-T c.1080G>A p.V360= Synonymous 1/20 - 1
3-49939965-C-T c.1078G>A p.V360M Missense 1/20 - 3
3-49939970-G-A c.1073C>T p.P358L Missense 1/20 - 1
3-49939970-G-C c.1073C>G p.P358R Missense 1/20 - 2
3-49939972-ACC-CCA c.1069_1071delinsTGG p.G357W Missense 1/20 - 1
3-49939974-C-T c.1069G>A p.G357S Missense 1/20 - 1
3-49939976-C-T c.1067G>A p.G356D Missense 1/20 - 7
3-49939984-G-A c.1059C>T p.G353= Synonymous 1/20 - 3
3-49939985-C-A c.1058G>T p.G353V Missense 1/20 - 2
3-49939985-C-G c.1058G>C p.G353A Missense 1/20 - 1
3-49939997-A-C c.1046T>G p.V349G Missense 1/20 - 1
3-49939998-C-T c.1045G>A p.V349I Missense 1/20 - 1
3-49939999-C-A c.1044G>T p.G348= Synonymous 1/20 - 1
3-49939999-CCC-ACA c.1042_1044delinsTGT p.G348C Missense 1/20 - 1
3-49939999-C-G c.1044G>C p.G348= Synonymous 1/20 - 1
3-49939999-C-T c.1044G>A p.G348= Synonymous 1/20 - 1
3-49940000-C-G c.1043G>C p.G348A Missense 1/20 - 1
3-49940001-C-A c.1042G>T p.G348W Missense 1/20 - 1
3-49940003-A-C c.1040T>G p.F347C Missense 1/20 - 1
3-49940010-C-T c.1033G>A p.V345I Missense 1/20 - 1
3-49940013-C-A c.1030G>T p.E344* Nonsense 1/20 - 1
3-49940017-G-A c.1026C>T p.G342= Synonymous 1/20 - 1
3-49940017-G-T c.1026C>A p.G342= Synonymous 1/20 - 1
3-49940018-C-G c.1025G>C p.G342A Missense 1/20 - 1
3-49940019-C-T c.1024G>A p.G342S Missense 1/20 - 1
3-49940022-C-T c.1021G>A p.E341K Missense 1/20 - 3
3-49940024-G-A c.1019C>T p.A340V Missense 1/20 - 4
3-49940025-C-T c.1018G>A p.A340T Missense 1/20 - 2
3-49940028-T-C c.1015A>G p.I339V Missense 1/20 - 1
3-49940043-C-T c.1000G>A p.A334T Missense 1/20 - 1
3-49940045-A-C c.998T>G p.L333R Missense 1/20 - 1
3-49940049-G-A c.994C>T p.Q332* Nonsense 1/20 - 1
3-49940054-C-G c.989G>C p.G330A Missense 1/20 - 1
3-49940054-C-T c.989G>A p.G330D Missense 1/20 - 1
3-49940056-CAC-GAT c.985_987delinsATC p.V329I Missense 1/20 - 1
3-49940056-C-G c.987G>C p.V329= Synonymous 1/20 - 1
3-49940061-G-A c.982C>T p.P328S Missense 1/20 - 1
3-49940063-GC-CA c.979_980delinsTG p.A327C Missense 1/20 - 1
3-49940064-C-A c.979G>T p.A327S Missense 1/20 - 1
3-49940064-C-T c.979G>A p.A327T Missense 1/20 - 6
3-49940066-G-A c.977C>T p.S326F Missense 1/20 - 3
3-49940067-A-G c.976T>C p.S326P Missense 1/20 - 1
3-49940072-G-A c.971C>T p.A324V Missense 1/20 - 1
3-49940073-C-T c.970G>A p.A324T Missense 1/20 - 4
3-49940077-CC-AT c.965_966delinsAT p.R322H Missense 1/20 - 2
3-49940078-C-T c.965G>A p.R322Q Missense 1/20 - 16
3-49940079-G-A c.964C>T p.R322W Missense 1/20 - 1
3-49940079-G-T c.964C>A p.R322= Synonymous 1/20 - 1
3-49940081-A-C c.962T>G p.L321R Missense 1/20 - 1
3-49940081-A-G c.962T>C p.L321P Missense 1/20 - 2
3-49940085-C-T c.958G>A p.V320M Missense 1/20 - 1
3-49940088-G-C c.955C>G p.P319A Missense 1/20 - 1
3-49940091-A-G c.952T>C p.Y318H Missense 1/20 - 1
3-49940093-G-T c.950C>A p.P317H Missense 1/20 - 1
3-49940096-T-C c.947A>G p.Q316R Missense 1/20 - 1
3-49940100-C-A c.943G>T p.G315* Nonsense 1/20 - 1
3-49940100-C-T c.943G>A p.G315R Missense 1/20 - 1
3-49940103-C-T c.940G>A p.G314S Missense 1/20 - 3
3-49940104-T-A c.939A>T p.E313D Missense 1/20 - 1
3-49940107-T-A c.936A>T p.P312= Synonymous 1/20 - 1
3-49940107-T-C c.936A>G p.P312= Synonymous 1/20 - 1
3-49940107-T-G c.936A>C p.P312= Synonymous 1/20 - 1
3-49940108-G-A c.935C>T p.P312L Missense 1/20 - 1
3-49940108-G-T c.935C>A p.P312Q Missense 1/20 - 1
3-49940111-G-C c.932C>G p.A311G Missense 1/20 - 2
3-49940112-C-A c.931G>T p.A311S Missense 1/20 - 1
3-49940112-C-G c.931G>C p.A311P Missense 1/20 - 1
3-49940112-C-T c.931G>A p.A311T Missense 1/20 - 3
3-49940114-C-G c.929G>C p.G310A Missense 1/20 - 1
3-49940111-GC-G c.931del p.A311Pfs*27 Frameshift 1/20 - 2
3-49940111-G-GC c.931dup p.A311Gfs*26 Frameshift 1/20 - 1
3-49940117-C-T c.926G>A p.R309Q Missense 1/20 - 2
3-49940118-G-A c.925C>T p.R309W Missense 1/20 - 4
3-49940120-C-T c.923G>A p.R308H Missense 1/20 - 2
3-49940121-G-A c.922C>T p.R308C Missense 1/20 - 3
3-49940123-C-T c.920G>A p.R307K Missense 1/20 - 1
3-49940125-G-A c.918C>T p.R306= Synonymous 1/20 - 1
3-49940125-G-C c.918C>G p.R306= Synonymous 1/20 - 1
3-49940125-G-T c.918C>A p.R306= Synonymous 1/20 - 1
3-49940126-C-T c.917G>A p.R306H Missense 1/20 - 6
3-49940127-G-A c.916C>T p.R306C Missense 1/20 - 1
3-49940131-T-A c.912A>T p.P304= Synonymous 1/20 - 1
3-49940131-T-C c.912A>G p.P304= Synonymous 1/20 - 1
3-49940131-T-G c.912A>C p.P304= Synonymous 1/20 - 1
3-49940140-TCT-ACA c.901_903delinsTGT p.R301C Missense 1/20 - 1
3-49940140-TCT-ATG c.901_903delinsCAT p.R301H Missense 1/20 - 2
3-49940140-T-TC c.902dup p.F302Ifs*35 Frameshift 1/20 - 1
3-49940141-CT-AG c.901_902inv p.R301L Missense 1/20 - 1
3-49940142-T-C c.901A>G p.R301G Missense 1/20 - 1
3-49940148-C-T c.895G>A p.D299N Missense 1/20 - 3
3-49940149-G-A c.894C>T p.L298= Synonymous 1/20 - 1
3-49940149-G-C c.894C>G p.L298= Synonymous 1/20 - 1
3-49940149-G-T c.894C>A p.L298= Synonymous 1/20 - 1
3-49940153-A-C c.890T>G p.V297G Missense 1/20 - 1
3-49940155-C-A c.888G>T p.L296= Synonymous 1/20 - 1
3-49940155-C-G c.888G>C p.L296= Synonymous 1/20 - 1
3-49940155-C-T c.888G>A p.L296= Synonymous 1/20 - 1
3-49940157-G-A c.886C>T p.L296= Synonymous 1/20 - 1
3-49940161-CC-AT c.881_882delinsAT p.R294H Missense 1/20 - 1
3-49940161-C-T c.882G>A p.R294= Synonymous 1/20 - 3
3-49940162-C-T c.881G>A p.R294Q Missense 1/20 - 3
3-49940163-G-T c.880C>A p.R294= Synonymous 1/20 - 2
3-49940169-C-T c.874G>A p.D292N Missense 1/20 - 1
3-49940172-C-G c.871G>C p.G291R Missense 1/20 - 1
3-49940179-CTG-C c.863_864del p.P288Rfs*4 Frameshift 1/20 - 1
3-49940188-G-A c.855C>T p.A285= Synonymous 1/20 - 1
3-49940190-C-T c.853G>A p.A285T Missense 1/20 - 2
3-49940193-T-A c.850A>T p.S284C Missense 1/20 - 1
3-49940194-A-C c.849T>G p.L283= Synonymous 1/20 - 2
3-49940194-A-G c.849T>C p.L283= Synonymous 1/20 - 3
3-49940194-A-T c.849T>A p.L283= Synonymous 1/20 - 2
3-49940195-A-G c.848T>C p.L283P Missense 1/20 - 2
3-49940198-C-A c.845G>T p.R282L Missense 1/20 - 1
3-49940198-C-T c.845G>A p.R282Q Missense 1/20 - 2
3-49940199-G-A c.844C>T p.R282W Missense 1/20 - 3
3-49940201-G-C c.842C>G p.A281G Missense 1/20 - 2
3-49940202-C-T c.841G>A p.A281T Missense 1/20 - 1
3-49940203-C-T c.840G>A p.L280= Synonymous 1/20 - 1
3-49940206-G-A c.837C>T p.R279= Synonymous 1/20 - 1
3-49940207-C-T c.836G>A p.R279H Missense 1/20 - 1
3-49940208-G-A c.835C>T p.R279C Missense 1/20 - 1
3-49940210-G-C c.833C>G p.T278R Missense 1/20 - 1
3-49940211-T-G c.832A>C p.T278P Missense 1/20 - 1
3-49940214-G-A c.829C>T p.H277Y Missense 1/20 - 1
3-49940214-G-T c.829C>A p.H277N Missense 1/20 - 1
3-49940219-G-A c.824C>T p.A275V Missense 1/20 - 2
3-49940223-T-A c.820A>T p.S274C Missense 1/20 - 1
3-49940231-T-A c.812A>T p.D271V Missense 1/20 - 1
3-49940232-C-T c.811G>A p.D271N Missense 1/20 - 2
3-49940238-C-A c.805G>T p.V269L Missense 1/20 - 1
3-49940239-G-A c.804C>T p.S268= Synonymous 1/20 - 1
3-49940243-G-T c.800C>A p.A267D Missense 1/20 - 1
3-49940245-C-A c.798G>T p.P266= Synonymous 1/20 - 2
3-49940245-C-G c.798G>C p.P266= Synonymous 1/20 - 2
3-49940245-C-T c.798G>A p.P266= Synonymous 1/20 - 2
3-49940247-G-A c.796C>T p.P266S Missense 1/20 - 1
3-49940252-A-G c.791T>C p.V264A Missense 1/20 - 3
3-49940252-A-T c.791T>A p.V264E Missense 1/20 - 1
3-49940260-G-A c.783C>T p.F261= Synonymous 1/20 - 1
3-49940264-T-C c.779A>G p.Y260C Missense 1/20 - 2
3-49940268-C-T c.775G>A p.V259I Missense 1/20 - 3
3-49940269-G-T c.774C>A p.F258L Missense 1/20 - 1
3-49940276-C-G c.767G>C p.G256A Missense 1/20 - 1
3-49940276-C-T c.767G>A p.G256E Missense 1/20 - 1
3-49940278-C-A c.765G>T p.T255= Synonymous 1/20 - 1
3-49940288-C-T c.755G>A p.S252N Missense 1/20 - 1
3-49940293-CAC-GAT c.748_750delinsATC p.V250I Missense 1/20 - 1
3-49940293-CAC-GTT c.748_750delinsAAC p.V250N Missense 1/20 - 1
3-49940293-CA-GT c.749_750delinsAC p.V250D Missense 1/20 - 1
3-49940295-C-T c.748G>A p.V250M Missense 1/20 - 1
3-49940296-G-A c.747C>T p.Y249= Synonymous 1/20 - 1
3-49940301-C-A c.742G>T p.E248* Nonsense 1/20 - 1
3-49940302-A-G c.741T>C p.I247= Synonymous 1/20 - 2
3-49940302-A-T c.741T>A p.I247= Synonymous 1/20 - 1
3-49940308-G-T c.735C>A p.Y245* Nonsense 1/20 - 1
3-49940312-G-A c.731C>T p.S244F Missense 1/20 - 2
3-49940312-GA-CC c.730_731delinsGG p.S244G Missense 1/20 - 1
3-49940312-G-T c.731C>A p.S244Y Missense 1/20 - 1
3-49940313-A-C c.730T>G p.S244A Missense 1/20 - 1
3-49940313-A-G c.730T>C p.S244P Missense 1/20 - 1
3-49940317-AAG-CAT c.724_726delinsATG p.L242M Missense 1/20 - 1
3-49940317-AA-TT c.725_726inv p.L242Q Missense 1/20 - 1
3-49940316-CAAG-C c.724_726del p.L242del InFrameDeletion 1/20 - 1
3-49940319-G-C c.724C>G p.L242V Missense 1/20 - 1
3-49940328-G-A c.715C>T p.P239S Missense 1/20 - 1
3-49940334-C-A c.709G>T p.V237L Missense 1/20 - 1
3-49940334-C-G c.709G>C p.V237L Missense 1/20 - 1
3-49940335-T-A c.708A>T p.S236= Synonymous 1/20 - 1
3-49940335-T-C c.708A>G p.S236= Synonymous 1/20 - 1
3-49940335-T-G c.708A>C p.S236= Synonymous 1/20 - 1
3-49940336-G-T c.707C>A p.S236* Nonsense 1/20 - 1
3-49940339-AA-GC c.703_704delinsGC p.L235A Missense 1/20 - 1
3-49940339-AA-GG c.703_704delinsCC p.L235P Missense 1/20 - 1
3-49940340-A-C c.703T>G p.L235V Missense 1/20 - 1
3-49940343-C-T c.700G>A p.A234T Missense 1/20 - 1
3-49940348-A-T c.695T>A p.F232Y Missense 1/20 - 3
3-49940351-CC-AA c.691_692delinsTT p.G231F Missense 1/20 - 1
3-49940351-C-T c.692G>A p.G231D Missense 1/20 - 1
3-49940353-C-A c.690G>T p.P230= Synonymous 1/20 - 2
3-49940353-C-G c.690G>C p.P230= Synonymous 1/20 - 2
3-49940353-C-T c.690G>A p.P230= Synonymous 1/20 - 2
3-49940354-G-T c.689C>A p.P230Q Missense 1/20 - 1
3-49940358-C-T c.685G>A p.A229T Missense 1/20 - 1
3-49940359-G-A c.684C>T p.F228= Synonymous 1/20 - 2
3-49940363-C-G c.680G>C p.G227A Missense 1/20 - 1
3-49940364-C-A c.679G>T p.G227* Nonsense 1/20 - 1
3-49940364-C-G c.679G>C p.G227R Missense 1/20 - 1
3-49940364-C-T c.679G>A p.G227R Missense 1/20 - 1
3-49940370-C-T c.673G>A p.A225T Missense 1/20 - 1
3-49940376-C-A c.667G>T p.A223S Missense 1/20 - 1
3-49940376-C-T c.667G>A p.A223T Missense 1/20 - 1
3-49940380-G-A c.663C>T p.L221= Synonymous 1/20 - 1
3-49940383-AC-TT c.659_660delinsAA p.R220Q Missense 1/20 - 1
3-49940384-CG-GC c.658_659delinsGC p.R220A Missense 1/20 - 1
3-49940386-CCT-ACA c.655_657delinsTGT p.R219C Missense 1/20 - 1
3-49940387-C-T c.656G>A p.R219K Missense 1/20 - 2
3-49940391-T-A c.652A>T p.I218F Missense 1/20 - 2
3-49940393-G-C c.650C>G p.S217C Missense 1/20 - 1
3-49940399-GA-CC c.643_644delinsGG p.S215G Missense 1/20 - 1
3-49940408-C-A c.635G>T p.S212I Missense 1/20 - 1
3-49940414-C-A c.629G>T p.S210I Missense 1/20 - 2
3-49940415-T-C c.628A>G p.S210G Missense 1/20 - 1
3-49940420-G-A c.623C>T p.A208V Missense 1/20 - 1
3-49940421-C-T c.622G>A p.A208T Missense 1/20 - 1
3-49940424-C-T c.619G>A p.V207M Missense 1/20 - 5
3-49940425-GGC-CTT c.616_618delinsAAG p.A206K Missense 1/20 - 5
3-49940427-C-A c.616G>T p.A206S Missense 1/20 - 1
3-49940429-G-C c.614C>G p.A205G Missense 1/20 - 1
3-49940430-C-T c.613G>A p.A205T Missense 1/20 - 1
3-49940433-C-T c.610G>A p.D204N Missense 1/20 - 2
3-49940432-TCCAGTGAGGATGCCACGTAGAAATAGGAGGCCTGG-T c.576_610del p.Q193Rfs*20 Frameshift 1/20 - 1
3-49940438-G-C c.605C>G p.S202* Nonsense 1/20 - 1
3-49940438-G-T c.605C>A p.S202* Nonsense 1/20 - 1
3-49940440-G-A c.603C>T p.S201= Synonymous 1/20 - 1
3-49940440-G-C c.603C>G p.S201= Synonymous 1/20 - 1
3-49940440-G-T c.603C>A p.S201= Synonymous 1/20 - 1
3-49940441-G-T c.602C>A p.S201Y Missense 1/20 - 1
3-49940443-T-A c.600A>T p.A200= Synonymous 1/20 - 1
3-49940443-T-C c.600A>G p.A200= Synonymous 1/20 - 1
3-49940443-T-G c.600A>C p.A200= Synonymous 1/20 - 1
3-49940444-G-C c.599C>G p.A200G Missense 1/20 - 2
3-49940445-C-A c.598G>T p.A200S Missense 1/20 - 1
3-49940445-C-T c.598G>A p.A200T Missense 1/20 - 1
3-49940447-A-G c.596T>C p.V199A Missense 1/20 - 2
3-49940449-G-A c.594C>T p.Y198= Synonymous 1/20 - 3
3-49940450-T-G c.593A>C p.Y198S Missense 1/20 - 1
3-49940457-A-T c.586T>A p.Y196N Missense 1/20 - 1
3-49940460-A-C c.583T>G p.S195A Missense 1/20 - 1
3-49940461-G-A c.582C>T p.A194= Synonymous 1/20 - 1
3-49940462-G-A c.581C>T p.A194V Missense 1/20 - 1
3-49940465-TG-GC c.577_578delinsGC p.Q193A Missense 1/20 - 1
3-49940468-C-A c.575G>T p.G192V Missense 1/20 - 1
3-49940468-C-T c.575G>A p.G192D Missense 1/20 - 1
3-49940468-GCCTTGCTCA-G c.567_575del p.E190_G192del InFrameDeletion 1/20 - 1
3-49940473-C-A c.570G>T p.E190D Missense 1/20 - 1
3-49940473-C-G c.570G>C p.E190D Missense 1/20 - 1
3-49940474-T-G c.569A>C p.E190A Missense 1/20 - 1
3-49940475-C-G c.568G>C p.E190Q Missense 1/20 - 2
3-49940476-AA-CT c.566_567delinsAG p.V189E Missense 1/20 - 1
3-49940478-C-A c.565G>T p.V189F Missense 1/20 - 1
3-49940481-C-T c.562G>A p.V188M Missense 1/20 - 3
3-49940483-G-T c.560C>A p.T187N Missense 1/20 - 1
3-49940489-C-T c.554G>A p.R185H Missense 1/20 - 2
3-49940490-G-A c.553C>T p.R185C Missense 1/20 - 3
3-49940490-G-T c.553C>A p.R185S Missense 1/20 - 2
3-49940494-GC-CT c.548_549delinsAG p.G183E Missense 1/20 - 1
3-49940495-C-G c.548G>C p.G183A Missense 1/20 - 1
3-49940509-CAC-AAA c.532_534delinsTTT p.V178F Missense 1/20 - 1
3-49940511-C-T c.532G>A p.V178M Missense 1/20 - 1
3-49940512-A-G c.531T>C p.C177= Synonymous 1/20 - 1
3-49940517-C-T c.526G>A p.D176N Missense 1/20 - 2
3-49940518-G-A c.525C>T p.P175= Synonymous 1/20 - 2
3-49940518-G-C c.525C>G p.P175= Synonymous 1/20 - 1
3-49940521-G-A c.522C>T p.C174= Synonymous 1/20 - 1
3-49940523-A-G c.520T>C p.C174R Missense 1/20 - 1
3-49940524-G-C c.519C>G p.D173E Missense 1/20 - 1
3-49940524-G-T c.519C>A p.D173E Missense 1/20 - 1
3-49940529-C-T c.514G>A p.D172N Missense 1/20 - 1
3-49940531-G-T c.512C>A p.P171H Missense 1/20 - 1
3-49940533-C-T c.510G>A p.R170= Synonymous 1/20 - 1
3-49940535-G-A c.508C>T p.R170W Missense 1/20 - 2
3-49940542-G-A c.501C>T p.H167= Synonymous 1/20 - 1
3-49940543-T-G c.500A>C p.H167P Missense 1/20 - 3
3-49940547-C-T c.496G>A p.A166T Missense 1/20 - 2
3-49940551-G-C c.492C>G p.F164L Missense 1/20 - 1
3-49940551-G-T c.492C>A p.F164L Missense 1/20 - 1
3-49940553-A-G c.490T>C p.F164L Missense 1/20 - 1
3-49940554-G-A c.489C>T p.L163= Synonymous 1/20 - 1
3-49940554-G-C c.489C>G p.L163= Synonymous 1/20 - 3
3-49940554-G-T c.489C>A p.L163= Synonymous 1/20 - 1
3-49940556-G-A c.487C>T p.L163F Missense 1/20 - 2
3-49940557-G-A c.486C>T p.C162= Synonymous 1/20 - 2
3-49940562-C-T c.481G>A p.A161T Missense 1/20 - 2
3-49940564-G-A c.479C>T p.P160L Missense 1/20 - 1
3-49940565-G-A c.478C>T p.P160S Missense 1/20 - 1
3-49940569-T-A c.474A>T p.A158= Synonymous 1/20 - 1
3-49940569-T-C c.474A>G p.A158= Synonymous 1/20 - 1
3-49940569-T-G c.474A>C p.A158= Synonymous 1/20 - 1
3-49940570-G-C c.473C>G p.A158G Missense 1/20 - 1
3-49940571-C-T c.472G>A p.A158T Missense 1/20 - 1
3-49940572-C-A c.471G>T p.L157= Synonymous 1/20 - 1
3-49940572-C-G c.471G>C p.L157= Synonymous 1/20 - 1
3-49940572-C-T c.471G>A p.L157= Synonymous 1/20 - 1
3-49940573-A-C c.470T>G p.L157R Missense 1/20 - 1
3-49940574-G-A c.469C>T p.L157= Synonymous 1/20 - 2
3-49940576-AT-A c.467del p.H156Lfs*31 Frameshift 1/20 - 1
3-49940577-G-A c.466C>T p.H156Y Missense 1/20 - 1
3-49940579-A-G c.464T>C p.V155A Missense 1/20 - 1
3-49940586-T-C c.457A>G p.T153A Missense 1/20 - 1
3-49940590-T-C c.453A>G p.Q151= Synonymous 1/20 - 1
3-49940590-TTG-CAT c.451_453delinsATG p.Q151M Missense 1/20 - 1
3-49940593-G-A c.450C>T p.P150= Synonymous 1/20 - 1
3-49940595-G-A c.448C>T p.P150S Missense 1/20 - 3
3-49940596-C-A c.447G>T p.E149D Missense 1/20 - 1
3-49940598-C-T c.445G>A p.E149K Missense 1/20 - 1
3-49940601-G-T c.442C>A p.L148I Missense 1/20 - 1
3-49940604-C-T c.439G>A p.D147N Missense 1/20 - 1
3-49940606-T-C c.437A>G p.H146R Missense 1/20 - 1
3-49940610-G-A c.433C>T p.L145= Synonymous 1/20 - 2
3-49940614-GCA-CAT c.427_429delinsATG p.C143M Missense 1/20 - 1
3-49940612-AAGC-A c.428_430del p.C143del InFrameDeletion 1/20 - 1
3-49940616-A-G c.427T>C p.C143R Missense 1/20 - 12
3-49940616-A-T c.427T>A p.C143S Missense 1/20 - 2
3-49940618-C-T c.425G>A p.R142H Missense 1/20 - 2
3-49940619-G-A c.424C>T p.R142C Missense 1/20 - 1
3-49940623-C-T c.420G>A p.Q140= Synonymous 1/20 - 1
3-49940625-G-A c.418C>T p.Q140* Nonsense 1/20 - 3
3-49940628-G-T c.415C>A p.L139M Missense 1/20 - 1
3-49940629-G-A c.414C>T p.S138= Synonymous 1/20 - 1
3-49940632-G-A c.411C>T p.S137= Synonymous 1/20 - 2
3-49940633-G-A c.410C>T p.S137F Missense 1/20 - 1
3-49940636-C-G c.407G>C p.G136A Missense 1/20 - 1
3-49940649-G-A c.394C>T p.L132= Synonymous 1/20 - 1
3-49940649-G-C c.394C>G p.L132V Missense 1/20 - 1
3-49940650-C-A c.393G>T p.A131= Synonymous 1/20 - 1
3-49940650-C-G c.393G>C p.A131= Synonymous 1/20 - 1
3-49940650-C-T c.393G>A p.A131= Synonymous 1/20 - 1
3-49940651-G-A c.392C>T p.A131V Missense 1/20 - 2
3-49940651-G-C c.392C>G p.A131G Missense 1/20 - 1
3-49940652-C-A c.391G>T p.A131S Missense 1/20 - 1
3-49940652-C-T c.391G>A p.A131T Missense 1/20 - 1
3-49940655-G-A c.388C>T p.P130S Missense 1/20 - 2
3-49940657-A-G c.386T>C p.L129P Missense 1/20 - 1
3-49940661-C-T c.382G>A p.A128T Missense 1/20 - 1
3-49940662-G-A c.381C>T p.P127= Synonymous 1/20 - 2
3-49940662-G-C c.381C>G p.P127= Synonymous 1/20 - 2
3-49940662-G-T c.381C>A p.P127= Synonymous 1/20 - 2
3-49940664-G-A c.379C>T p.P127S Missense 1/20 - 1
3-49940664-GGA-G c.378_379del p.P127Rfs*20 Frameshift 1/20 - 1
3-49940667-C-T c.376G>A p.D126N Missense 1/20 - 1
3-49940672-A-G c.371T>C p.V124A Missense 1/20 - 1
3-49940673-C-T c.370G>A p.V124M Missense 1/20 - 1
3-49940674-C-G c.369G>C p.L123= Synonymous 1/20 - 1
3-49940679-C-A c.364G>T p.V122L Missense 1/20 - 1
3-49940682-T-G c.361A>C p.K121Q Missense 1/20 - 1
3-49940683-TG-CA c.359_360inv p.T120M Missense 1/20 - 1
3-49940684-G-A c.359C>T p.T120I Missense 1/20 - 2
3-49940690-GT-TC c.352_353delinsGA p.T118E Missense 1/20 - 1
3-49940691-T-A c.352A>T p.T118S Missense 1/20 - 1
3-49940691-T-C c.352A>G p.T118A Missense 1/20 - 1
3-49940694-C-T c.349G>A p.D117N Missense 1/20 - 1
3-49940696-C-T c.347G>A p.G116D Missense 1/20 - 1
3-49940697-C-A c.346G>T p.G116C Missense 1/20 - 1
3-49940697-C-T c.346G>A p.G116S Missense 1/20 - 1
3-49940699-G-A c.344C>T p.P115L Missense 1/20 - 1
3-49940697-CG-C c.345del p.G116Vfs*33 Frameshift 1/20 - 1
3-49940705-C-T c.338G>A p.G113D Missense 1/20 - 1
3-49940706-C-T c.337G>A p.G113S Missense 1/20 - 1
3-49940707-G-A c.336C>T p.H112= Synonymous 1/20 - 1
3-49940710-G-A c.333C>T p.P111= Synonymous 1/20 - 1
3-49940710-G-C c.333C>G p.P111= Synonymous 1/20 - 1
3-49940710-G-T c.333C>A p.P111= Synonymous 1/20 - 1
3-49940712-G-A c.331C>T p.P111S Missense 1/20 - 1
3-49940713-T-A c.330A>T p.G110= Synonymous 1/20 - 1
3-49940714-C-T c.329G>A p.G110E Missense 1/20 - 1
3-49940715-C-T c.328G>A p.G110R Missense 1/20 - 2
3-49940716-T-A c.327A>T p.P109= Synonymous 1/20 - 1
3-49940716-T-C c.327A>G p.P109= Synonymous 1/20 - 1
3-49940716-T-G c.327A>C p.P109= Synonymous 1/20 - 2
3-49940717-G-C c.326C>G p.P109R Missense 1/20 - 1
3-49940718-G-A c.325C>T p.P109S Missense 1/20 - 4
3-49940721-C-T c.322G>A p.G108S Missense 1/20 - 3
3-49940723-C-T c.320G>A p.C107Y Missense 1/20 - 1
3-49940729-G-C c.314C>G p.A105G Missense 1/20 - 1
3-49940730-C-T c.313G>A p.A105T Missense 1/20 - 3
3-49940732-C-G c.311G>C p.C104S Missense 1/20 - 1
3-49940732-C-T c.311G>A p.C104Y Missense 1/20 - 1
3-49940735-G-A c.308C>T p.T103M Missense 1/20 - 2
3-49940737-C-G c.306G>C p.Q102H Missense 1/20 - 1
3-49940740-G-A c.303C>T p.C101= Synonymous 1/20 - 1
3-49940741-C-T c.302G>A p.C101Y Missense 1/20 - 1
3-49940742-A-C c.301T>G p.C101G Missense 1/20 - 1
3-49940743-GC-G c.299del p.G100Afs*49 Frameshift 1/20 - 1
3-49940746-A-T c.297T>A p.P99= Synonymous 1/20 - 1
3-49940747-G-A c.296C>T p.P99L Missense 1/20 - 4
3-49940748-G-A c.295C>T p.P99S Missense 1/20 - 2
3-49940748-G-T c.295C>A p.P99T Missense 1/20 - 1
3-49940750-TC-AA c.292_293delinsTT p.D98F Missense 1/20 - 1
3-49940750-T-G c.293A>C p.D98A Missense 1/20 - 1
3-49940753-C-G c.290G>C p.G97A Missense 1/20 - 1
3-49940754-C-G c.289G>C p.G97R Missense 1/20 - 1
3-49940755-A-AG c.287dup p.G97Wfs*21 Frameshift 1/20 - 1
3-49940756-GC-AA c.286_287delinsTT p.A96F Missense 1/20 - 1
3-49940760-G-T c.283C>A p.P95T Missense 1/20 - 3
3-49940762-C-G c.281G>C p.G94A Missense 1/20 - 1
3-49940766-T-A c.277A>T p.T93S Missense 1/20 - 1
3-49940767-GG-CT c.275_276delinsAG p.A92E Missense 1/20 - 1
3-49940768-G-A c.275C>T p.A92V Missense 1/20 - 1
3-49940771-A-G c.272T>C p.L91P Missense 1/20 - 1
3-49940772-AGG-A c.270_271del p.L91Gfs*26 Frameshift 1/20 - 1
3-49940774-C-T c.269G>A p.S90N Missense 1/20 - 1
3-49940789-CAG-C c.253_254del p.L85Efs*32 Frameshift 1/20 - 1
3-49940790-G-C c.253C>G p.L85V Missense 1/20 - 1
3-49940796-G-A c.247C>T p.P83S Missense 1/20 - 1
3-49940797-C-T c.246G>A p.G82= Synonymous 1/20 - 1
3-49940799-C-T c.244G>A p.G82R Missense 1/20 - 1
3-49940803-C-G c.240G>C p.V80= Synonymous 1/20 - 1
3-49940804-A-G c.239T>C p.V80A Missense 1/20 - 1
3-49940812-G-A c.231C>T p.R77= Synonymous 1/20 - 1
3-49940812-G-C c.231C>G p.R77= Synonymous 1/20 - 1
3-49940812-GCG-CCA c.229_231delinsTGG p.R77W Missense 1/20 - 1
3-49940812-G-T c.231C>A p.R77= Synonymous 1/20 - 1
3-49940813-C-G c.230G>C p.R77P Missense 1/20 - 1
3-49940820-G-A c.223C>T p.R75C Missense 1/20 - 1
3-49940820-G-T c.223C>A p.R75S Missense 1/20 - 3
3-49940821-TAT-GTC c.220_222delinsGAC p.I74D Missense 1/20 - 1
3-49940823-T-C c.220A>G p.I74V Missense 1/20 - 1
3-49940825-G-GC c.217dup p.A73Gfs*12 Frameshift 1/20 - 1
3-49940826-C-G c.217G>C p.A73P Missense 1/20 - 1
3-49940826-C-CT c.216dup p.A73Sfs*12 Frameshift 1/20 - 1
3-49940831-A-G c.212T>C p.F71S Missense 1/20 - 1
3-49940832-A-T c.211T>A p.F71I Missense 1/20 - 1
3-49940833-ACAC-A c.208_210del p.V70del InFrameDeletion 1/20 - 1
3-49940833-C-A c.210G>T p.V70= Synonymous 1/20 - 1
3-49940833-C-G c.210G>C p.V70= Synonymous 1/20 - 1
3-49940833-C-T c.210G>A p.V70= Synonymous 1/20 - 1
3-49940834-A-G c.209T>C p.V70A Missense 1/20 - 1
3-49940835-C-T c.208G>A p.V70M Missense 1/20 - 1
3-49940836-AG-CT c.206_207inv p.A69E Missense 1/20 - 3
3-49940837-G-A c.206C>T p.A69V Missense 1/20 - 2
3-49940837-G-T c.206C>A p.A69D Missense 1/20 - 3
3-49940839-A-G c.204T>C p.S68= Synonymous 1/20 - 1
3-49940840-CT-GC c.202_203delinsGC p.S68A Missense 1/20 - 1
3-49940842-C-G c.201G>C p.E67D Missense 1/20 - 1
3-49940842-TC-T c.201del p.S68Vfs*5 Frameshift 1/20 - 1
3-49940844-C-G c.199G>C p.E67Q Missense 1/20 - 2
3-49940844-C-T c.199G>A p.E67K Missense 1/20 - 2
3-49940846-T-C c.197A>G p.N66S Missense 1/20 - 1
3-49940849-CT-AG c.193_194inv p.R65L Missense 1/20 - 1
3-49940851-G-C c.192C>G p.D64E Missense 1/20 - 1
3-49940851-G-T c.192C>A p.D64E Missense 1/20 - 1
3-49940853-C-T c.190G>A p.D64N Missense 1/20 - 2
3-49940854-G-A c.189C>T p.G63= Synonymous 1/20 - 1
3-49940855-C-A c.188G>T p.G63V Missense 1/20 - 1
3-49940859-C-T c.184G>A p.E62K Missense 1/20 - 4
3-49940860-G-A c.183C>T p.Y61= Synonymous 1/20 - 1
3-49940862-A-C c.181T>G p.Y61D Missense 1/20 - 1
3-49940862-A-G c.181T>C p.Y61H Missense 1/20 - 1
3-49940864-G-C c.179C>G p.T60S Missense 1/20 - 1
3-49940865-T-A c.178A>T p.T60S Missense 1/20 - 1
3-49940866-CAC-GAT c.175_177delinsATC p.V59I Missense 1/20 - 1
3-49940873-G-A c.170C>T p.A57V Missense 1/20 - 1
3-49940873-GC-AA c.169_170delinsTT p.A57F Missense 1/20 - 2
3-49940873-GC-CA c.169_170delinsTG p.A57C Missense 1/20 - 1
3-49940879-A-C c.164T>G p.V55G Missense 1/20 - 1
3-49940880-C-A c.163G>T p.V55L Missense 1/20 - 2
3-49940880-C-G c.163G>C p.V55L Missense 1/20 - 2
3-49940881-CAG-GTC c.160_162delinsGAC p.L54D Missense 1/20 - 1
3-49940882-AG-GC c.160_161delinsGC p.L54A Missense 1/20 - 1
3-49940885-C-G c.158G>C p.G53A Missense 1/20 - 1
3-49940885-C-T c.158G>A p.G53D Missense 1/20 - 1
3-49940886-C-T c.157G>A p.G53S Missense 1/20 - 1
3-49940888-C-G c.155G>C p.G52A Missense 1/20 - 1
3-49940888-C-T c.155G>A p.G52E Missense 1/20 - 3
3-49940891-GC-TT c.151_152delinsAA p.A51N Missense 1/20 - 1
3-49940891-G-T c.152C>A p.A51D Missense 1/20 - 1
3-49940894-GGAGA-G c.146_149del p.F49Sfs*10 Frameshift 1/20 - 1
3-49940895-A-G c.148T>C p.S50P Missense 1/20 - 1
3-49940897-A-C c.146T>G p.F49C Missense 1/20 - 1
3-49940900-C-CGA c.142_143insTC p.S48Ifs*13 Frameshift 1/20 - 1
3-49940901-T-C c.142A>G p.S48G Missense 1/20 - 1
3-49940902-G-A c.141C>T p.P47= Synonymous 1/20 - 1
3-49940902-GGG-CTT c.139_141delinsAAG p.P47K Missense 1/20 - 1
3-49940903-G-A c.140C>T p.P47L Missense 1/20 - 2
3-49940904-G-A c.139C>T p.P47S Missense 1/20 - 2
3-49940908-C-T c.135G>A p.V45= Synonymous 1/20 - 1
3-49940910-C-A c.133G>T p.V45L Missense 1/20 - 1
3-49940910-C-G c.133G>C p.V45L Missense 1/20 - 2
3-49940910-C-T c.133G>A p.V45M Missense 1/20 - 1
3-49940911-G-C c.132C>G p.Y44* Nonsense 1/20 - 1
3-49940914-ACTTC-A c.126_129del p.K43Tfs*16 Frameshift 1/20 - 1
3-49940914-C-A c.129G>T p.K43N Missense 1/20 - 1
3-49940914-C-G c.129G>C p.K43N Missense 1/20 - 1
3-49940915-T-C c.128A>G p.K43R Missense 1/20 - 1
3-49940915-TT-GC c.127_128delinsGC p.K43A Missense 1/20 - 1
3-49940917-CAC-GAT c.124_126delinsATC p.V42I Missense 1/20 - 1
3-49940919-C-T c.124G>A p.V42M Missense 1/20 - 1
3-49940923-A-C c.120T>G p.F40L Missense 1/20 - 1
3-49940923-A-T c.120T>A p.F40L Missense 1/20 - 1
3-49940925-A-G c.118T>C p.F40L Missense 1/20 - 1
3-49940926-G-C c.117C>G p.D39E Missense 1/20 - 1
3-49940927-TC-CT c.115_116delinsAG p.D39S Missense 1/20 - 1
3-49940927-T-G c.116A>C p.D39A Missense 1/20 - 2
3-49940928-C-T c.115G>A p.D39N Missense 1/20 - 1
3-49940929-G-T c.114C>A p.R38= Synonymous 1/20 - 1
3-49940930-C-T c.113G>A p.R38H Missense 1/20 - 3
3-49940931-CG-C c.112del p.R38Afs*5 Frameshift 1/20 - 1
3-49940931-G-C c.112C>G p.R38G Missense 1/20 - 2
3-49940933-G-C c.110C>G p.S37C Missense 1/20 - 1
3-49940934-A-C c.109T>G p.S37A Missense 1/20 - 1
3-49940935-G-A c.108C>T p.A36= Synonymous 1/20 - 1
3-49940936-G-A c.107C>T p.A36V Missense 1/20 - 1
3-49940936-G-C c.107C>G p.A36G Missense 1/20 - 1
3-49940939-G-A c.104C>T p.A35V Missense 1/20 - 1
3-49940944-G-A c.99C>T p.P33= Synonymous 1/20 - 1
3-49940944-G-C c.99C>G p.P33= Synonymous 1/20 - 1
3-49940944-G-T c.99C>A p.P33= Synonymous 1/20 - 1
3-49940945-GG-TC c.97_98delinsGA p.P33D Missense 1/20 - 1
3-49940946-G-A c.97C>T p.P33S Missense 1/20 - 1
3-49940948-GT-CA c.94_95delinsTG p.T32C Missense 1/20 - 1
3-49940948-GT-TG c.94_95delinsCA p.T32H Missense 1/20 - 1
3-49940949-T-C c.94A>G p.T32A Missense 1/20 - 1
3-49940951-C-A c.92G>T p.R31L Missense 1/20 - 1
3-49940951-CG-GC c.91_92delinsGC p.R31A Missense 1/20 - 1
3-49940951-CG-GT c.91_92delinsAC p.R31T Missense 1/20 - 1
3-49940951-C-T c.92G>A p.R31H Missense 1/20 - 1
3-49940952-G-A c.91C>T p.R31C Missense 1/20 - 1
3-49940953-C-A c.90G>T p.P30= Synonymous 1/20 - 1
3-49940953-CGG-GTC c.88_90delinsGAC p.P30D Missense 1/20 - 1
3-49940953-C-T c.90G>A p.P30= Synonymous 1/20 - 1
3-49940954-G-C c.89C>G p.P30R Missense 1/20 - 1
3-49940957-C-A c.86G>T p.C29F Missense 1/20 - 1
3-49940958-A-AG c.84_85insC p.C29Lfs*13 Frameshift 1/20 - 1
3-49940959-C-A c.84G>T p.Q28H Missense 1/20 - 1
3-49940959-C-G c.84G>C p.Q28H Missense 1/20 - 2
3-49940961-G-A c.82C>T p.Q28* Nonsense 1/20 - 1
3-49940964-A-AGCTGCCGCTGCC c.78_79insGGCAGCGGCAGC p.D26_W27insGSGS InFrameInsertion 1/20 - 1
3-49940965-G-C c.78C>G p.D26E Missense 1/20 - 1
3-49940965-G-T c.78C>A p.D26E Missense 1/20 - 1
3-49940967-C-T c.76G>A p.D26N Missense 1/20 - 1
3-49940969-TC-GG c.73_74delinsCC p.E25P Missense 1/20 - 1
3-49940970-C-A c.73G>T p.E25* Nonsense 1/20 - 1
3-49940970-C-T c.73G>A p.E25K Missense 1/20 - 1
3-49940972-C-T c.71G>A p.G24D Missense 1/20 - 1
3-49940974-CGC-ACA c.67_69delinsTGT p.A23C Missense 1/20 - 3
3-49940974-CGC-GTT c.67_69delinsAAC p.A23N Missense 1/20 - 1
3-49940975-GC-AT c.67_68delinsAT p.A23M Missense 1/20 - 1
3-49940977-C-A c.66G>T p.A22= Synonymous 1/20 - 1
3-49940977-C-G c.66G>C p.A22= Synonymous 1/20 - 1
3-49940977-CG-GT c.65_66delinsAC p.A22D Missense 1/20 - 1
3-49940977-C-T c.66G>A p.A22= Synonymous 1/20 - 1
3-49940978-G-A c.65C>T p.A22V Missense 1/20 - 1
3-49940980-GGG-TTA c.61_63delinsTAA p.P21* Nonsense 1/20 - 1
3-49940981-GG-TC c.61_62delinsGA p.P21D Missense 1/20 - 1
3-49940982-G-C c.61C>G p.P21A Missense 1/20 - 1
3-49940984-T-C c.59A>G p.K20R Missense 1/20 - 1
3-49940986-G-A c.57C>T p.A19= Synonymous 1/20 - 1
3-49940986-G-C c.57C>G p.A19= Synonymous 1/20 - 1
3-49940986-GGC-CAT c.55_57delinsATG p.A19M Missense 1/20 - 1
3-49940986-GGC-CCA c.55_57delinsTGG p.A19W Missense 1/20 - 1
3-49940986-G-T c.57C>A p.A19= Synonymous 1/20 - 1
3-49940987-GC-AA c.55_56delinsTT p.A19F Missense 1/20 - 1
3-49940987-G-T c.56C>A p.A19D Missense 1/20 - 1
3-49940988-C-G c.55G>C p.A19P Missense 1/20 - 1
3-49940988-C-T c.55G>A p.A19T Missense 1/20 - 1
3-49940990-G-GGA c.52_53insTC p.P18Lfs*26 Frameshift 1/20 - 1
3-49940995-C-A c.48G>T p.L16= Synonymous 1/20 - 1
3-49940995-C-G c.48G>C p.L16= Synonymous 1/20 - 1
3-49940995-C-T c.48G>A p.L16= Synonymous 1/20 - 2
3-49940997-G-A c.46C>T p.L16= Synonymous 1/20 - 1
3-49940996-A-G c.47T>C p.L16P Missense 1/20 - 1
3-49940997-G-GC c.45dup p.L16Afs*26 Frameshift 1/20 - 1
3-49940999-AG-TC c.43_44delinsGA p.L15E Missense 1/20 - 1
3-49940994-ACAG-A c.46_48del p.L17del InFrameDeletion 1/20 - 1
3-49941003-G-A c.40C>T p.L14= Synonymous 1/20 - 2
3-49941005-AA-GC c.37_38delinsGC p.L13A Missense 1/20 - 4
3-49941007-CAG-ACA c.34_36delinsTGT p.L12C Missense 1/20 - 1
3-49941008-A-C c.35T>G p.L12R Missense 1/20 - 1
3-49941008-A-G c.35T>C p.L12P Missense 1/20 - 1
3-49941010-G-A c.33C>T p.F11= Synonymous 1/20 - 2
3-49941010-GAA-CAT c.31_33delinsATG p.F11M Missense 1/20 - 1
3-49941010-G-T c.33C>A p.F11L Missense 1/20 - 1
3-49941011-AA-CG c.31_32delinsCG p.F11R Missense 1/20 - 20
3-49941011-AA-TC c.31_32delinsGA p.F11D Missense 1/20 - 1
3-49941011-AA-TT c.31_32inv p.F11N Missense 1/20 - 1
3-49941011-A-G c.32T>C p.F11S Missense 1/20 - 1
3-49941013-G-A c.30C>T p.S10= Synonymous 1/20 - 2
3-49941013-G-C c.30C>G p.S10= Synonymous 1/20 - 2
3-49941013-GGA-CTC c.28_30delinsGAG p.S10E Missense 1/20 - 6
3-49941013-G-T c.30C>A p.S10= Synonymous 1/20 - 2
3-49941014-G-A c.29C>T p.S10F Missense 1/20 - 3
3-49941014-GA-AT c.28_29delinsAT p.S10I Missense 1/20 - 2
3-49941014-GA-CC c.28_29delinsGG p.S10G Missense 1/20 - 2
3-49941014-GA-TC c.28_29inv p.S10D Missense 1/20 - 5
3-49941014-GA-TG c.28_29delinsCA p.S10H Missense 1/20 - 2
3-49941014-G-C c.29C>G p.S10C Missense 1/20 - 12
3-49941015-A-C c.28T>G p.S10A Missense 1/20 - 23
3-49941015-A-G c.28T>C p.S10P Missense 1/20 - 2
3-49941015-A-AC c.27dup p.S10Vfs*32 Frameshift 1/20 - 1
3-49941017-CTG-C c.25_26del p.Q9Vfs*32 Frameshift 1/20 - 1
3-49941017-T-A c.26A>T p.Q9L Missense 1/20 - 1
3-49941018-G-A c.25C>T p.Q9* Nonsense 1/20 - 1
3-49941021-G-A c.22C>T p.P8S Missense 1/20 - 1
3-49941026-G-A c.17C>T p.P6L Missense 1/20 - 1
3-49941029-G-A c.14C>T p.P5L Missense 1/20 - 1
3-49941035-A-T c.8T>A p.L3H Missense 1/20 - 1
3-49941037-C-T c.6G>A p.E2= Synonymous 1/20 - 2
3-49941039-C-A c.4G>T p.E2* Nonsense 1/20 - 1
3-49941039-C-T c.4G>A p.E2K Missense 1/20 - 2
3-49941041-A-C c.2T>G p.M1? Missense 1/20 - 1
3-49941041-AT-TA c.1_2delinsTA p.M1? Nonsense 1/20 - 1
3-49941041-CA-C c.2del p.M1? CdsStartDeletion 1/20 - 2
3-49941042-T-C c.1A>G p.M1? Missense 1/20 - 1
3-49941177-A-C c.-135T>G - 5-UTRSNV 1/20 - 1