SI sucrase-isomaltase

Annotation transcript: NM_001041.4

2186 unique variant annotations were identified in 2712 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-164697159-G-GT c.5474dup p.N1825Kfs*64 Frameshift 48/48 - 1
3-164700041-GT-CA c.5404_5405delinsTG p.T1802C Missense 47/48 - 1
3-164700042-T-C c.5404A>G p.T1802A Missense 47/48 - 1
3-164700053-A-G c.5393T>C p.F1798S Missense 47/48 - 1
3-164700074-C-T c.5372G>A p.G1791E Missense 47/48 - 1
3-164700082-C-T c.5364G>A p.T1788= Synonymous 47/48 - 1
3-164700082-C-A c.5364G>T p.T1788= Synonymous 47/48 - 1
3-164700082-C-G c.5364G>C p.T1788= Synonymous 47/48 - 1
3-164700098-TT-GC c.5347_5348delinsGC p.N1783A Missense 47/48 - 1
3-164700124-T-G c.5322A>C p.V1774= Synonymous 47/48 - 1
3-164700124-T-C c.5322A>G p.V1774= Synonymous 47/48 - 1
3-164700124-T-A c.5322A>T p.V1774= Synonymous 47/48 - 1
3-164700167-C-A c.5279G>T p.G1760V Missense 47/48 - 2
3-164700167-C-T c.5279G>A p.G1760D Missense 47/48 - 1
3-164700187-TGT-ACA c.5257_5259inv p.T1753C Missense 47/48 - 1
3-164700190-T-C c.5256A>G p.L1752= Synonymous 47/48 - 1
3-164700803-A-C c.5234T>G p.F1745C Missense 46/48 - 9
3-164700810-C-T c.5227G>A p.V1743I Missense 46/48 - 1
3-164700812-G-A c.5225C>T p.S1742F Missense 46/48 - 1
3-164700839-T-G c.5198A>C p.D1733A Missense 46/48 - 1
3-164704987-AAC-CAT c.5134_5136delinsATG p.V1712M Missense 45/48 - 1
3-164705006-TT-GC c.5116_5117delinsGC p.K1706A Missense 45/48 - 2
3-164705013-G-A c.5110C>T p.R1704* Nonsense 45/48 - 1
3-164709144-T-C c.5105A>G p.Y1702C Missense 44/48 - 1
3-164709160-C-A c.5089G>T p.A1697S Missense 44/48 - 1
3-164709193-G-A c.5056C>T p.R1686C Missense 44/48 - 2
3-164709197-A-T c.5052T>A p.H1684Q Missense 44/48 - 1
3-164709197-A-C c.5052T>G p.H1684Q Missense 44/48 - 1
3-164709250-C-G c.4999G>C p.V1667L Missense 44/48 - 1
3-164709979-A-G c.4969T>C p.F1657L Missense 43/48 - 1
3-164709977-A-T c.4971T>A p.F1657L Missense 43/48 - 1
3-164709977-A-C c.4971T>G p.F1657L Missense 43/48 - 1
3-164709985-G-A c.4963C>T p.R1655W Missense 43/48 - 1
3-164709994-G-A c.4954C>T p.P1652S Missense 43/48 - 1
3-164710115-G-A c.4912C>T p.P1638S Missense 42/48 - 1
3-164710129-G-T c.4898C>A p.A1633E Missense 42/48 - 1
3-164710152-G-T c.4875C>A p.F1625L Missense 42/48 - 1
3-164710154-A-C c.4873T>G p.F1625V Missense 42/48 - 2
3-164712051-AA-GG c.4834_4835delinsCC p.L1612P Missense 41/48 - 1
3-164712057-G-T c.4829C>A p.P1610H Missense 41/48 - 1
3-164712061-G-A c.4825C>T p.R1609* Nonsense 41/48 - 1
3-164712069-G-A c.4817C>T p.T1606I Missense 41/48 - 2
3-164712082-C-T c.4804G>A p.A1602T Missense 41/48 - 1
3-164712099-T-C c.4787A>G p.Q1596R Missense 41/48 - 1
3-164712108-AA-GC c.4777_4778delinsGC p.F1593A Missense 41/48 - 1
3-164712157-C-T c.4729G>A p.E1577K Missense 41/48 - 1
3-164712159-G-C c.4727C>G p.A1576G Missense 41/48 - 1
3-164712165-G-C c.4721C>G p.T1574S Missense 41/48 - 1
3-164712166-T-A c.4720A>T p.T1574S Missense 41/48 - 1
3-164712169-C-T c.4717G>A p.E1573K Missense 41/48 - 2
3-164712181-C-T c.4705G>A p.A1569T Missense 41/48 - 1
3-164712191-T-C c.4695A>G p.R1565= Synonymous 41/48 - 1
3-164712193-T-G c.4693A>C p.R1565= Synonymous 41/48 - 1
3-164714323-T-C c.4692A>G p.R1564= Synonymous 40/48 - 1
3-164714325-T-G c.4690A>C p.R1564= Synonymous 40/48 - 1
3-164714334-C-T c.4681G>A p.A1561T Missense 40/48 - 2
3-164714339-T-G c.4676A>C p.N1559T Missense 40/48 - 1
3-164714351-G-A c.4664C>T p.S1555L Missense 40/48 - 1
3-164714384-C-T c.4631G>A p.R1544H Missense 40/48 - 1
3-164714385-G-A c.4630C>T p.R1544C Missense 40/48 - 3
3-164714385-G-T c.4630C>A p.R1544S Missense 40/48 - 1
3-164714389-A-C c.4626T>G p.C1542W Missense 40/48 - 1
3-164714414-A-C c.4601T>G p.F1534C Missense 40/48 - 5
3-164714414-A-G c.4601T>C p.F1534S Missense 40/48 - 2
3-164714415-A-G c.4600T>C p.F1534L Missense 40/48 - 1
3-164714413-G-T c.4602C>A p.F1534L Missense 40/48 - 1
3-164714413-G-C c.4602C>G p.F1534L Missense 40/48 - 1
3-164714422-A-C c.4593T>G p.C1531W Missense 40/48 - 2
3-164714423-C-T c.4592G>A p.C1531Y Missense 40/48 - 2
3-164714532-C-G c.4569G>C p.M1523I Missense 39/48 - 1
3-164714532-C-T c.4569G>A p.M1523I Missense 39/48 - 4
3-164714532-C-A c.4569G>T p.M1523I Missense 39/48 - 1
3-164716348-T-C c.4520A>G p.N1507S Missense 38/48 - 1
3-164716348-T-A c.4520A>T p.N1507I Missense 38/48 - 1
3-164716351-GTC-G c.4516_4517del p.D1506Qfs*13 Frameshift 38/48 - 1
3-164716363-T-G c.4505A>C p.Y1502S Missense 38/48 - 1
3-164716368-G-C c.4500C>G p.D1500E Missense 38/48 - 1
3-164716368-G-T c.4500C>A p.D1500E Missense 38/48 - 1
3-164716369-TC-CT c.4498_4499delinsAG p.D1500S Missense 38/48 - 1
3-164716370-C-A c.4498G>T p.D1500Y Missense 38/48 - 1
3-164716370-C-T c.4498G>A p.D1500N Missense 38/48 - 1
3-164716371-TCC-ACA c.4495_4497delinsTGT p.G1499C Missense 38/48 - 1
3-164716394-G-A c.4474C>T p.R1492* Nonsense 38/48 - 2
3-164716395-TCC-ACA c.4471_4473delinsTGT p.G1491C Missense 38/48 - 2
3-164716395-T-A c.4473A>T p.G1491= Synonymous 38/48 - 1
3-164716395-T-C c.4473A>G p.G1491= Synonymous 38/48 - 1
3-164716395-T-G c.4473A>C p.G1491= Synonymous 38/48 - 1
3-164716395-TCC-CAT c.4471_4473delinsATG p.G1491M Missense 38/48 - 1
3-164716396-C-G c.4472G>C p.G1491A Missense 38/48 - 1
3-164716396-CC-AT c.4471_4472delinsAT p.G1491I Missense 38/48 - 1
3-164716403-T-C c.4465A>G p.T1489A Missense 38/48 - 1
3-164716414-GA-TC c.4453_4454inv p.S1485D Missense 38/48 - 1
3-164716415-A-C c.4453T>G p.S1485A Missense 38/48 - 1
3-164716417-C-T c.4451G>A p.R1484H Missense 38/48 - 3
3-164716417-CG-GC c.4450_4451delinsGC p.R1484A Missense 38/48 - 1
3-164716418-G-A c.4450C>T p.R1484C Missense 38/48 - 1
3-164716423-A-G c.4445T>C p.I1482T Missense 38/48 - 1
3-164716424-T-C c.4444A>G p.I1482V Missense 38/48 - 1
3-164716426-A-T c.4442T>A p.V1481E Missense 38/48 - 1
3-164716427-C-T c.4441G>A p.V1481I Missense 38/48 - 1
3-164716429-A-G c.4439T>C p.I1480T Missense 38/48 - 1
3-164716438-T-A c.4430A>T p.K1477I Missense 38/48 - 1
3-164716441-C-G c.4427G>C p.G1476A Missense 38/48 - 2
3-164724605-C-T c.4405G>A p.D1469N Missense 37/48 - 1
3-164724609-AGTAG-A c.4397_4400del p.P1466Lfs*15 Frameshift 37/48 - 1
3-164724618-C-G c.4392G>C p.M1464I Missense 37/48 - 1
3-164724618-C-A c.4392G>T p.M1464I Missense 37/48 - 1
3-164724618-C-T c.4392G>A p.M1464I Missense 37/48 - 1
3-164724625-GA-TC c.4384_4385inv p.S1462E Missense 37/48 - 1
3-164724626-A-C c.4384T>G p.S1462A Missense 37/48 - 2
3-164724629-A-G c.4381T>C p.W1461R Missense 37/48 - 1
3-164724639-ATT-TTA c.4369_4371delinsTAA p.N1457* Nonsense 37/48 - 1
3-164724689-C-T c.4321G>A p.E1441K Missense 37/48 - 1
3-164725715-A-T c.4251T>A p.Y1417* Nonsense 36/48 - 1
3-164725715-A-C c.4251T>G p.Y1417* Nonsense 36/48 - 1
3-164725726-C-T c.4240G>A p.E1414K Missense 36/48 - 4
3-164725727-G-A c.4239C>T p.D1413= Synonymous 36/48 - 1
3-164725755-C-A c.4211G>T p.G1404V Missense 36/48 - 1
3-164725767-C-A c.4199G>T p.S1400I Missense 36/48 - 1
3-164725767-CT-AA c.4198_4199delinsTT p.S1400F Missense 36/48 - 1
3-164725768-T-C c.4198A>G p.S1400G Missense 36/48 - 2
3-164725768-T-A c.4198A>T p.S1400C Missense 36/48 - 2
3-164725784-A-C c.4182T>G p.D1394E Missense 36/48 - 1
3-164725784-A-T c.4182T>A p.D1394E Missense 36/48 - 1
3-164727096-C-T c.4150G>A p.E1384K Missense 35/48 - 1
3-164727105-A-C c.4141T>G p.F1381V Missense 35/48 - 1
3-164727113-A-C c.4133T>G p.I1378S Missense 35/48 - 2
3-164727113-AT-GG c.4132_4133delinsCC p.I1378P Missense 35/48 - 1
3-164727122-G-A c.4124C>T p.A1375V Missense 35/48 - 1
3-164727127-C-A c.4119G>T p.W1373C Missense 35/48 - 1
3-164727127-C-G c.4119G>C p.W1373C Missense 35/48 - 1
3-164727147-T-C c.4099A>G p.R1367G Missense 35/48 - 5
3-164730776-C-T c.4054G>A p.A1352T Missense 34/48 - 1
3-164730787-G-A c.4043C>T p.T1348M Missense 34/48 - 1
3-164730805-GT-G c.4024del p.T1342Qfs*2 Frameshift 34/48 - 1
3-164730829-A-C c.4001T>G p.V1334G Missense 34/48 - 1
3-164732915-G-C c.3995C>G p.A1332G Missense 33/48 - 1
3-164732928-C-A c.3982G>T p.D1328Y Missense 33/48 - 1
3-164732934-T-C c.3976A>G p.T1326A Missense 33/48 - 1
3-164732955-C-T c.3955G>A p.V1319I Missense 33/48 - 1
3-164732955-C-G c.3955G>C p.V1319L Missense 33/48 - 1
3-164732968-TCC-AAA c.3940_3942delinsTTT p.G1314F Missense 33/48 - 2
3-164732969-C-G c.3941G>C p.G1314A Missense 33/48 - 6
3-164732972-CT-GC c.3937_3938delinsGC p.R1313A Missense 33/48 - 1
3-164732996-G-A c.3914C>T p.T1305I Missense 33/48 - 1
3-164733015-C-G c.3895G>C p.A1299P Missense 33/48 - 1
3-164733015-C-CTA c.3894_3895insTA p.A1299* Nonsense 33/48 - 1
3-164733017-G-A c.3893C>T p.P1298L Missense 33/48 - 1
3-164733020-T-C c.3890A>G p.D1297G Missense 33/48 - 1
3-164733021-C-T c.3889G>A p.D1297N Missense 33/48 - 1
3-164733721-G-A c.3888+19C>T - IntronicSNV - 32/47 1
3-164733753-T-C c.3875A>G p.Y1292C Missense 32/48 - 1
3-164733755-T-C c.3873A>G p.R1291= Synonymous 32/48 - 1
3-164733757-T-G c.3871A>C p.R1291= Synonymous 32/48 - 1
3-164733768-C-G c.3860G>C p.G1287A Missense 32/48 - 2
3-164733774-A-G c.3854T>C p.I1285T Missense 32/48 - 1
3-164733776-TTT-ACA c.3850_3852delinsTGT p.K1284C Missense 32/48 - 1
3-164733779-G-C c.3849C>G p.D1283E Missense 32/48 - 1
3-164733779-G-T c.3849C>A p.D1283E Missense 32/48 - 1
3-164733799-C-G c.3829G>C p.D1277H Missense 32/48 - 1
3-164733813-C-A c.3815G>T p.G1272V Missense 32/48 - 1
3-164733820-T-C c.3808A>G p.T1270A Missense 32/48 - 1
3-164733836-T-G c.3792A>C p.E1264D Missense 32/48 - 4
3-164733836-T-A c.3792A>T p.E1264D Missense 32/48 - 4
3-164733838-C-T c.3790G>A p.E1264K Missense 32/48 - 1
3-164733840-A-G c.3788T>C p.M1263T Missense 32/48 - 1
3-164733843-T-A c.3785A>T p.Y1262F Missense 32/48 - 1
3-164733850-T-C c.3778A>G p.I1260V Missense 32/48 - 1
3-164733853-C-T c.3775G>A p.D1259N Missense 32/48 - 1
3-164733862-TG-T c.3766del p.Q1256Sfs*12 Frameshift 32/48 - 1
3-164733865-C-T c.3763G>A p.V1255I Missense 32/48 - 1
3-164733868-C-A c.3760G>T p.D1254Y Missense 32/48 - 2
3-164733869-C-T c.3760-1G>A - IntronicSNV - 31/47 1
3-164735341-G-A c.3754C>T p.P1252S Missense 31/48 - 1
3-164735353-C-G c.3742G>C p.A1248P Missense 31/48 - 1
3-164735374-C-T c.3721G>A p.E1241K Missense 31/48 - 1
3-164735409-C-T c.3686G>A p.C1229Y Missense 31/48 - 3
3-164735410-A-T c.3685T>A p.C1229S Missense 31/48 - 1
3-164735409-C-G c.3686G>C p.C1229S Missense 31/48 - 1
3-164735433-T-A c.3662A>T p.Y1221F Missense 31/48 - 1
3-164735436-G-A c.3659C>T p.A1220V Missense 31/48 - 1
3-164735554-G-A c.3628C>T p.H1210Y Missense 30/48 - 1
3-164735572-C-A c.3610G>T p.V1204F Missense 30/48 - 1
3-164735584-G-A c.3598C>T p.P1200S Missense 30/48 - 2
3-164735594-CAT-C c.3586_3587del p.M1196Vfs*15 Frameshift 30/48 - 1
3-164735613-CC-GT c.3568_3569delinsAC p.G1190T Missense 30/48 - 1
3-164735617-C-A c.3565G>T p.G1189* Nonsense 30/48 - 1
3-164735620-C-G c.3562G>C p.V1188L Missense 30/48 - 1
3-164735623-T-C c.3559A>G p.T1187A Missense 30/48 - 1
3-164735637-G-C c.3545C>G p.A1182G Missense 30/48 - 1
3-164735638-C-A c.3544G>T p.A1182S Missense 30/48 - 1
3-164735643-G-A c.3539C>T p.T1180I Missense 30/48 - 1
3-164735658-A-C c.3524T>G p.V1175G Missense 30/48 - 1
3-164735661-T-A c.3521A>T p.D1174V Missense 30/48 - 1
3-164735758-C-T c.3520G>A p.D1174N Missense 29/48 - 1
3-164735767-T-C c.3511A>G p.N1171D Missense 29/48 - 1
3-164735784-AC-GT c.3493_3494inv p.V1165T Missense 29/48 - 1
3-164735806-C-G c.3472G>C p.E1158Q Missense 29/48 - 1
3-164735823-T-A c.3455A>T p.Y1152F Missense 29/48 - 1
3-164735853-TA-GC c.3424_3425delinsGC p.Y1142A Missense 29/48 - 1
3-164737347-T-C c.3423+43A>G - IntronicSNV - 28/47 1
3-164737392-C-T c.3421G>A p.G1141S Missense 28/48 - 1
3-164737394-G-A c.3419C>T p.P1140L Missense 28/48 - 1
3-164737395-G-T c.3418C>A p.P1140T Missense 28/48 - 1
3-164737404-C-T c.3409G>A p.D1137N Missense 28/48 - 1
3-164737405-T-A c.3408A>T p.R1136S Missense 28/48 - 1
3-164737410-T-C c.3403A>G p.T1135A Missense 28/48 - 1
3-164737440-C-T c.3373G>A p.D1125N Missense 28/48 - 1
3-164737443-G-A c.3370C>T p.R1124* Nonsense 28/48 - 5
3-164737443-G-C c.3370C>G p.R1124G Missense 28/48 - 1
3-164737445-TT-GC c.3367_3368delinsGC p.K1123A Missense 28/48 - 1
3-164737448-A-G c.3365T>C p.F1122S Missense 28/48 - 1
3-164737451-G-T c.3362C>A p.A1121E Missense 28/48 - 1
3-164737452-GC-G c.3361del p.A1121Hfs*6 Frameshift 28/48 - 1
3-164737459-T-C c.3354A>G p.E1118= Synonymous 28/48 - 1
3-164737470-C-T c.3343G>A p.G1115R Missense 28/48 - 1
3-164737492-AT-A c.3321del p.S1108Qfs*19 Frameshift 28/48 - 1
3-164737504-CG-AT c.3308_3309delinsAT p.S1103Y Missense 28/48 - 1
3-164737505-G-A c.3308C>T p.S1103L Missense 28/48 - 1
3-164737506-A-G c.3307T>C p.S1103P Missense 28/48 - 1
3-164737520-T-G c.3293A>C p.Q1098P Missense 28/48 - 6
3-164737524-C-A c.3289G>T p.D1097Y Missense 28/48 - 1
3-164737547-C-T c.3266G>A p.W1089* Nonsense 28/48 - 1
3-164739026-C-G c.3245G>C p.G1082A Missense 27/48 - 1
3-164739034-TCT-CCA c.3235_3237delinsTGG p.R1079W Missense 27/48 - 1
3-164739038-CG-TA c.3232_3233delinsTA p.R1078* Nonsense 27/48 - 1
3-164739039-G-A c.3232C>T p.R1078W Missense 27/48 - 1
3-164739042-G-A c.3229C>T p.R1077* Nonsense 27/48 - 1
3-164739053-C-T c.3218G>A p.G1073D Missense 27/48 - 12
3-164739083-TAA-T c.3186_3187del p.Y1063* Frameshift 27/48 - 1
3-164739102-T-C c.3169A>G p.T1057A Missense 27/48 - 1
3-164739107-A-T c.3164T>A p.I1055K Missense 27/48 - 1
3-164739109-T-A c.3162A>T p.P1054= Synonymous 27/48 - 1
3-164739109-T-C c.3162A>G p.P1054= Synonymous 27/48 - 1
3-164739109-T-G c.3162A>C p.P1054= Synonymous 27/48 - 1
3-164739111-G-C c.3160C>G p.P1054A Missense 27/48 - 1
3-164739116-G-T c.3155C>A p.T1052N Missense 27/48 - 1
3-164739165-C-T c.3106G>A p.D1036N Missense 27/48 - 1
3-164741393-C-T c.3064G>A p.V1022M Missense 26/48 - 1
3-164741396-C-T c.3061G>A p.E1021K Missense 26/48 - 1
3-164741401-CG-GC c.3055_3056delinsGC p.R1019A Missense 26/48 - 1
3-164741402-G-A c.3055C>T p.R1019C Missense 26/48 - 1
3-164741418-G-T c.3039C>A p.D1013E Missense 26/48 - 1
3-164741420-C-CA c.3036dup p.D1013* Nonsense 26/48 - 1
3-164741428-AA-GG c.3028_3029delinsCC p.L1010P Missense 26/48 - 1
3-164741439-G-T c.3018C>A p.A1006= Synonymous 26/48 - 1
3-164741439-G-C c.3018C>G p.A1006= Synonymous 26/48 - 1
3-164741439-G-A c.3018C>T p.A1006= Synonymous 26/48 - 1
3-164741456-G-T c.3001C>A p.L1001I Missense 26/48 - 1
3-164741472-T-C c.2985A>G p.I995M Missense 26/48 - 1
3-164741474-T-C c.2983A>G p.I995V Missense 26/48 - 1
3-164741483-A-C c.2974T>G p.S992A Missense 26/48 - 1
3-164741506-GA-TC c.2950_2951inv p.S984E Missense 26/48 - 1
3-164741507-A-C c.2950T>G p.S984A Missense 26/48 - 1
3-164741513-A-C c.2944T>G p.S982A Missense 26/48 - 59
3-164741534-A-G c.2923T>C p.Y975H Missense 26/48 - 7
3-164741552-A-G c.2905T>C p.S969P Missense 26/48 - 1
3-164741557-G-C c.2900C>G p.S967C Missense 26/48 - 1
3-164741558-A-C c.2899T>G p.S967A Missense 26/48 - 1
3-164748501-G-A c.2891C>T p.T964M Missense 25/48 - 1
3-164748520-G-A c.2872C>T p.R958C Missense 25/48 - 1
3-164748522-TG-GC c.2869_2870delinsGC p.Q957A Missense 25/48 - 1
3-164748529-A-C c.2863T>G p.C955G Missense 25/48 - 1
3-164748531-T-C c.2861A>G p.K954R Missense 25/48 - 1
3-164748543-G-C c.2849C>G p.A950G Missense 25/48 - 1
3-164748559-G-GA c.2832dup p.P945Sfs*8 Frameshift 25/48 - 1
3-164748564-C-A c.2828G>T p.C943F Missense 25/48 - 1
3-164748593-TTG-CCA c.2797_2799delinsTGG p.Q933W Missense 25/48 - 1
3-164748595-G-A c.2797C>T p.Q933* Nonsense 25/48 - 1
3-164748596-A-C c.2796T>G p.N932K Missense 25/48 - 1
3-164748596-A-T c.2796T>A p.N932K Missense 25/48 - 1
3-164748598-T-C c.2794A>G p.N932D Missense 25/48 - 1
3-164748600-C-T c.2792G>A p.W931* Nonsense 25/48 - 1
3-164748599-C-T c.2793G>A p.W931* Nonsense 25/48 - 2
3-164748601-A-G c.2791T>C p.W931R Missense 25/48 - 2
3-164748601-A-T c.2791T>A p.W931R Missense 25/48 - 2
3-164748603-T-C c.2789A>G p.Q930R Missense 25/48 - 2
3-164750321-C-T c.2725G>A p.A909T Missense 24/48 - 1
3-164750323-T-G c.2723A>C p.D908A Missense 24/48 - 1
3-164750347-TT-GC c.2698_2699delinsGC p.N900A Missense 24/48 - 1
3-164750356-T-G c.2690A>C p.Q897P Missense 24/48 - 1
3-164750369-C-A c.2677G>T p.A893S Missense 24/48 - 1
3-164750369-C-G c.2677G>C p.A893P Missense 24/48 - 1
3-164750369-C-T c.2677G>A p.A893T Missense 24/48 - 2
3-164750370-CAC-GAT c.2674_2676delinsATC p.V892I Missense 24/48 - 1
3-164750370-CAC-ACA c.2674_2676delinsTGT p.V892C Missense 24/48 - 1
3-164750371-A-G c.2675T>C p.V892A Missense 24/48 - 1
3-164750377-ACTT-A c.2666_2668del p.E889del InFrameDeletion 24/48 - 1
3-164750393-C-T c.2653G>A p.D885N Missense 24/48 - 1
3-164750397-CAA-GTC c.2647_2649delinsGAC p.L883D Missense 24/48 - 1
3-164750405-G-T c.2641C>A p.L881I Missense 24/48 - 1
3-164750417-T-C c.2629A>G p.T877A Missense 24/48 - 12
3-164750420-G-A c.2626C>T p.Q876* Nonsense 24/48 - 1
3-164750422-A-G c.2624T>C p.F875S Missense 24/48 - 1
3-164750426-C-T c.2620G>A p.A874T Missense 24/48 - 2
3-164750431-GT-TC c.2614_2615delinsGA p.T872D Missense 24/48 - 1
3-164750432-T-C c.2614A>G p.T872A Missense 24/48 - 1
3-164750437-C-G c.2609G>C p.G870A Missense 24/48 - 1
3-164750442-C-A c.2604G>T p.Q868H Missense 24/48 - 1
3-164750442-C-G c.2604G>C p.Q868H Missense 24/48 - 1
3-164750447-A-G c.2599T>C p.Y867H Missense 24/48 - 2
3-164750455-T-TAGAA c.2590_2591insTTCT p.H864Lfs*29 Frameshift 24/48 - 1
3-164750462-A-T c.2584T>A p.C862S Missense 24/48 - 1
3-164750461-C-G c.2585G>C p.C862S Missense 24/48 - 1
3-164750472-TAA-ATG c.2572_2574delinsCAT p.L858H Missense 24/48 - 2
3-164750473-AA-CT c.2572_2573delinsAG p.L858R Missense 24/48 - 8
3-164750477-T-G c.2569A>C p.T857P Missense 24/48 - 1
3-164750477-T-C c.2569A>G p.T857A Missense 24/48 - 1
3-164750478-G-T c.2568C>A p.N856K Missense 24/48 - 9
3-164750478-G-C c.2568C>G p.N856K Missense 24/48 - 9
3-164750479-T-A c.2567A>T p.N856I Missense 24/48 - 1
3-164751183-A-C c.2565T>G p.N855K Missense 23/48 - 1
3-164751184-T-C c.2564A>G p.N855S Missense 23/48 - 1
3-164751223-T-C c.2525A>G p.Q842R Missense 23/48 - 1
3-164751226-A-ACT c.2521_2522insAG p.I841Kfs*19 Frameshift 23/48 - 1
3-164751228-T-C c.2520A>G p.T840= Synonymous 23/48 - 1
3-164751228-T-A c.2520A>T p.T840= Synonymous 23/48 - 1
3-164751228-T-G c.2520A>C p.T840= Synonymous 23/48 - 1
3-164751231-A-C c.2517T>G p.D839E Missense 23/48 - 1
3-164751231-A-T c.2517T>A p.D839E Missense 23/48 - 1
3-164754177-C-A c.2515G>T p.D839Y Missense 22/48 - 3
3-164754205-G-A c.2487C>T p.D829= Synonymous 22/48 - 1
3-164754215-GC-CA c.2476_2477delinsTG p.A826C Missense 22/48 - 1
3-164754217-TGT-GTC c.2473_2475delinsGAC p.T825D Missense 22/48 - 1
3-164754217-TGT-ACA c.2473_2475inv p.T825C Missense 22/48 - 1
3-164754230-C-G c.2462G>C p.G821A Missense 22/48 - 1
3-164754237-C-A c.2455G>T p.A819S Missense 22/48 - 1
3-164754244-AAG-TTA c.2446_2448delinsTAA p.L816* Nonsense 22/48 - 1
3-164754244-AA-TT c.2447_2448inv p.L816Q Missense 22/48 - 1
3-164754251-TAGAGGATTCTTAC-T c.2429_2441del p.R810Qfs*4 Frameshift 22/48 - 1
3-164754278-A-C c.2427-13T>G - IntronicSNV - 21/47 1
3-164755694-TG-T c.2420del p.T807Kfs*8 Frameshift 21/48 - 1
3-164755697-GT-TA c.2416_2417delinsTA p.T806* Nonsense 21/48 - 1
3-164755713-C-A c.2401G>T p.E801* Nonsense 21/48 - 2
3-164755715-T-C c.2399A>G p.Q800R Missense 21/48 - 2
3-164755713-C-CT c.2400dup p.E801Rfs*11 Frameshift 21/48 - 1
3-164755730-TA-GC c.2383_2384delinsGC p.Y795A Missense 21/48 - 1
3-164755730-T-A c.2384A>T p.Y795F Missense 21/48 - 1
3-164755738-TCT-ATG c.2374_2376delinsCAT p.R792H Missense 21/48 - 1
3-164755746-G-A c.2368C>T p.H790Y Missense 21/48 - 1
3-164755750-TCC-CCA c.2362_2364delinsTGG p.G788W Missense 21/48 - 1
3-164755751-C-G c.2363G>C p.G788A Missense 21/48 - 2
3-164755755-T-A c.2359A>T p.I787L Missense 21/48 - 1
3-164755757-TT-GC c.2356_2357delinsGC p.K786A Missense 21/48 - 1
3-164755767-G-A c.2347C>T p.P783S Missense 21/48 - 2
3-164755790-TT-GC c.2323_2324delinsGC p.K775A Missense 21/48 - 1
3-164755788-GT-G c.2325del p.K775Nfs*13 Frameshift 21/48 - 1
3-164755792-CCT-ACA c.2320_2322delinsTGT p.R774C Missense 21/48 - 1
3-164755792-C-G c.2322G>C p.R774S Missense 21/48 - 1
3-164755792-C-A c.2322G>T p.R774S Missense 21/48 - 1
3-164755794-T-C c.2320A>G p.R774G Missense 21/48 - 5
3-164755796-C-T c.2318G>A p.W773* Nonsense 21/48 - 1
3-164755795-C-T c.2319G>A p.W773* Nonsense 21/48 - 1
3-164755796-CCATGGCCTTTTTGCACCCTAATAATTGGAAGATTAAAAACATTCTTAATATTATTGAAG-C c.2302-42_2318del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 21/48 20/47 1
3-164755797-A-T c.2317T>A p.W773R Missense 21/48 - 1
3-164755797-A-G c.2317T>C p.W773R Missense 21/48 - 1
3-164755797-A-C c.2317T>G p.W773G Missense 21/48 - 1
3-164755802-CT-TG c.2311_2312delinsCA p.R771Q Missense 21/48 - 1
3-164755803-T-C c.2311A>G p.R771G Missense 21/48 - 1
3-164755802-CT-C c.2311del p.R771Gfs*17 Frameshift 21/48 - 1
3-164755808-G-A c.2306C>T p.A769V Missense 21/48 - 1
3-164756873-AT-A c.2294del p.Y765Lfs*23 Frameshift 20/48 - 1
3-164756885-AT-GC c.2281_2282delinsGC p.I761A Missense 20/48 - 1
3-164756891-T-C c.2276A>G p.D759G Missense 20/48 - 1
3-164756897-AT-GC c.2269_2270delinsGC p.I757A Missense 20/48 - 1
3-164756906-CT-GC c.2260_2261delinsGC p.S754A Missense 20/48 - 1
3-164756909-A-G c.2258T>C p.V753A Missense 20/48 - 1
3-164756912-G-A c.2255C>T p.T752I Missense 20/48 - 1
3-164756916-C-T c.2251G>A p.D751N Missense 20/48 - 1
3-164756916-C-G c.2251G>C p.D751H Missense 20/48 - 1
3-164756918-G-C c.2249C>G p.A750G Missense 20/48 - 1
3-164756918-G-A c.2249C>T p.A750V Missense 20/48 - 1
3-164756919-C-T c.2248G>A p.A750T Missense 20/48 - 1
3-164757673-A-T c.2244+2T>A - IntronicSNV - 19/47 1
3-164757675-C-A c.2244G>T p.Q748H Missense 19/48 - 1
3-164757677-G-T c.2242C>A p.Q748K Missense 19/48 - 1
3-164757681-TAG-CAT c.2236_2238delinsATG p.L746M Missense 19/48 - 1
3-164757682-AG-GC c.2236_2237delinsGC p.L746A Missense 19/48 - 1
3-164757697-A-G c.2222T>C p.L741P Missense 19/48 - 2
3-164757725-T-C c.2194A>G p.T732A Missense 19/48 - 2
3-164757728-C-T c.2191G>A p.D731N Missense 19/48 - 1
3-164757731-C-G c.2188G>C p.E730Q Missense 19/48 - 2
3-164757739-CT-GC c.2179_2180delinsGC p.S727A Missense 19/48 - 1
3-164757754-T-A c.2165A>T p.Y722F Missense 19/48 - 1
3-164758630-G-A c.2159+98C>T - IntronicSNV - 18/47 1
3-164758726-A-C c.2159+2T>G - IntronicSNV - 18/47 1
3-164758733-AA-TT c.2153_2154inv p.L718Q Missense 18/48 - 1
3-164758735-G-A c.2152C>T p.L718F Missense 18/48 - 1
3-164758737-A-T c.2150T>A p.V717D Missense 18/48 - 2
3-164758738-C-T c.2149G>A p.V717I Missense 18/48 - 5
3-164758738-C-A c.2149G>T p.V717F Missense 18/48 - 4
3-164758738-C-G c.2149G>C p.V717L Missense 18/48 - 1
3-164758739-T-A c.2148A>T p.P716= Synonymous 18/48 - 1
3-164758739-T-C c.2148A>G p.P716= Synonymous 18/48 - 1
3-164758739-T-G c.2148A>C p.P716= Synonymous 18/48 - 1
3-164758748-TAC-ACA c.2137_2139delinsTGT p.V713C Missense 18/48 - 1
3-164758749-A-G c.2138T>C p.V713A Missense 18/48 - 2
3-164758762-A-T c.2125T>A p.F709I Missense 18/48 - 1
3-164758768-G-A c.2119C>T p.H707Y Missense 18/48 - 1
3-164758771-C-A c.2116G>T p.A706S Missense 18/48 - 1
3-164758773-TT-GC c.2113_2114delinsGC p.K705A Missense 18/48 - 1
3-164758773-T-C c.2114A>G p.K705R Missense 18/48 - 1
3-164758782-AG-GC c.2104_2105delinsGC p.L702A Missense 18/48 - 2
3-164758790-G-A c.2097C>T p.L699= Synonymous 18/48 - 1
3-164758790-G-C c.2097C>G p.L699= Synonymous 18/48 - 1
3-164758790-G-T c.2097C>A p.L699= Synonymous 18/48 - 1
3-164758790-GAG-CAT c.2095_2097delinsATG p.L699M Missense 18/48 - 1
3-164758798-G-A c.2089C>T p.P697S Missense 18/48 - 1
3-164758807-T-G c.2080A>C p.T694P Missense 18/48 - 3
3-164758807-T-C c.2080A>G p.T694A Missense 18/48 - 1
3-164758809-T-A c.2078A>T p.Y693F Missense 18/48 - 1
3-164758812-CG-GC c.2074_2075delinsGC p.R692A Missense 18/48 - 1
3-164758813-G-A c.2074C>T p.R692C Missense 18/48 - 2
3-164758822-A-T c.2065T>A p.L689I Missense 18/48 - 2
3-164758824-TA-GC c.2062_2063delinsGC p.Y688A Missense 18/48 - 1
3-164758827-CT-C c.2060del p.Q687Rfs*3 Frameshift 18/48 - 1
3-164758829-CC-GT c.2057_2058delinsAC p.R686N Missense 18/48 - 1
3-164758839-T-C c.2048A>G p.K683R Missense 18/48 - 1
3-164758844-C-A c.2043G>T p.L681F Missense 18/48 - 1
3-164758844-C-G c.2043G>C p.L681F Missense 18/48 - 1
3-164758852-A-C c.2035T>G p.S679A Missense 18/48 - 1
3-164758854-ATTCTGCCC-A c.2026_2033del p.G676Ffs*5 Frameshift 18/48 - 1
3-164758856-C-G c.2031G>C p.Q677H Missense 18/48 - 15
3-164758856-C-A c.2031G>T p.Q677H Missense 18/48 - 14
3-164758857-T-G c.2030A>C p.Q677P Missense 18/48 - 1
3-164758858-TGCCCAA-T c.2024_2029del p.F675_Q677delins* MultiAAMissense 18/48 - 1
3-164758869-GC-AT c.2017_2018delinsAT p.A673I Missense 18/48 - 1
3-164758873-G-A c.2014C>T p.P672S Missense 18/48 - 2
3-164758878-T-C c.2009A>G p.Q670R Missense 18/48 - 1
3-164758879-G-A c.2008C>T p.Q670* Nonsense 18/48 - 1
3-164760771-T-C c.2004+76A>G - IntronicSNV - 17/47 1
3-164760820-G-A c.2004+27C>T - IntronicSNV - 17/47 1
3-164760848-T-G c.2003A>C p.E668A Missense 17/48 - 1
3-164760855-C-T c.1996G>A p.G666R Missense 17/48 - 1
3-164760855-C-G c.1996G>C p.G666R Missense 17/48 - 1
3-164760858-C-T c.1993G>A p.D665N Missense 17/48 - 1
3-164760863-TT-CA c.1987_1988delinsTG p.N663C Missense 17/48 - 2
3-164760866-TG-GC c.1984_1985delinsGC p.H662A Missense 17/48 - 1
3-164760872-CT-TC c.1978_1979delinsGA p.R660E Missense 17/48 - 1
3-164760872-CT-GC c.1978_1979delinsGC p.R660A Missense 17/48 - 1
3-164760873-T-A c.1978A>T p.R660* Nonsense 17/48 - 1
3-164760876-A-C c.1975T>G p.S659A Missense 17/48 - 3
3-164760890-GC-TG c.1960_1961delinsCA p.A654Q Missense 17/48 - 1
3-164760891-C-T c.1960G>A p.A654T Missense 17/48 - 3
3-164760893-C-T c.1958G>A p.G653E Missense 17/48 - 1
3-164760893-C-A c.1958G>T p.G653V Missense 17/48 - 1
3-164760903-T-C c.1948A>G p.M650V Missense 17/48 - 1
3-164760907-TCTTCTG-T c.1938_1943del p.C646_R648delins* MultiAAMissense 17/48 - 1
3-164760914-CA-GC c.1936_1937delinsGC p.C646A Missense 17/48 - 1
3-164760914-C-T c.1937G>A p.C646Y Missense 17/48 - 1
3-164760914-CA-C c.1936del p.C646Afs*44 Frameshift 17/48 - 1
3-164760924-C-T c.1927G>A p.E643K Missense 17/48 - 1
3-164760930-T-C c.1921A>G p.T641A Missense 17/48 - 1
3-164760932-T-C c.1919A>G p.E640G Missense 17/48 - 2
3-164760935-GC-CA c.1915_1916delinsTG p.A639C Missense 17/48 - 2
3-164760938-A-G c.1913T>C p.V638A Missense 17/48 - 1
3-164760941-AA-GC c.1909_1910delinsGC p.F637A Missense 17/48 - 1
3-164760948-A-G c.1903T>C p.C635R Missense 17/48 - 3
3-164760950-AT-GC c.1900_1901delinsGC p.I634A Missense 17/48 - 1
3-164760953-T-C c.1898A>G p.D633G Missense 17/48 - 1
3-164760960-C-T c.1891G>A p.G631R Missense 17/48 - 2
3-164760960-C-G c.1891G>C p.G631R Missense 17/48 - 1
3-164760962-A-G c.1889T>C p.V630A Missense 17/48 - 1
3-164761113-A-T c.1888-150T>A - IntronicSNV - 16/47 1
3-164761113-A-G c.1888-150T>C - IntronicSNV - 16/47 1
3-164761122-C-G c.1888-159G>C - IntronicSNV - 16/47 1
3-164761122-C-T c.1888-159G>A - IntronicSNV - 16/47 1
3-164761123-T-C c.1888-160A>G - IntronicSNV - 16/47 1
3-164764629-C-G c.1887G>C p.L629F Missense 16/48 - 1
3-164764630-AA-CT c.1885_1886delinsAG p.L629R Missense 16/48 - 1
3-164764636-AT-GC c.1879_1880delinsGC p.I627A Missense 16/48 - 1
3-164764639-C-T c.1877G>A p.G626E Missense 16/48 - 1
3-164764639-C-G c.1877G>C p.G626A Missense 16/48 - 1
3-164764657-A-G c.1859T>C p.L620P Missense 16/48 - 2
3-164764657-A-T c.1859T>A p.L620Q Missense 16/48 - 1
3-164764667-T-C c.1849A>G p.T617A Missense 16/48 - 1
3-164764668-T-A c.1848A>T p.I616= Synonymous 16/48 - 1
3-164764668-T-G c.1848A>C p.I616= Synonymous 16/48 - 1
3-164764672-GA-TC c.1843_1844inv p.S615D Missense 16/48 - 1
3-164764675-CA-GC c.1840_1841delinsGC p.W614A Missense 16/48 - 1
3-164764678-TC-CT c.1837_1838delinsAG p.E613R Missense 16/48 - 3
3-164764679-C-T c.1837G>A p.E613K Missense 16/48 - 1
3-164764684-T-C c.1832A>G p.Q611R Missense 16/48 - 1
3-164764684-TG-GC c.1831_1832delinsGC p.Q611A Missense 16/48 - 1
3-164764687-T-G c.1829A>C p.E610A Missense 16/48 - 1
3-164764691-A-T c.1825T>A p.W609R Missense 16/48 - 1
3-164764691-A-G c.1825T>C p.W609R Missense 16/48 - 1
3-164764693-GA-TC c.1822_1823inv p.S608E Missense 16/48 - 1
3-164764694-A-C c.1822T>G p.S608A Missense 16/48 - 1
3-164764693-G-GA c.1822dup p.S608Ffs*33 Frameshift 16/48 - 1
3-164764696-GC-CA c.1819_1820delinsTG p.A607C Missense 16/48 - 1
3-164764697-C-T c.1819G>A p.A607T Missense 16/48 - 1
3-164764699-G-A c.1817C>T p.T606I Missense 16/48 - 1
3-164764704-G-C c.1812C>G p.D604E Missense 16/48 - 1
3-164764704-G-T c.1812C>A p.D604E Missense 16/48 - 1
3-164764705-TC-CT c.1810_1811delinsAG p.D604S Missense 16/48 - 1
3-164764706-C-A c.1810G>T p.D604Y Missense 16/48 - 2
3-164764706-C-T c.1810G>A p.D604N Missense 16/48 - 1
3-164764717-T-A c.1799A>T p.H600L Missense 16/48 - 5
3-164764719-C-T c.1797G>A p.A599= Synonymous 16/48 - 1
3-164764720-G-C c.1796C>G p.A599G Missense 16/48 - 1
3-164764720-G-A c.1796C>T p.A599V Missense 16/48 - 1
3-164764724-C-A c.1792G>T p.A598S Missense 16/48 - 2
3-164764728-TCT-ACA c.1786_1788delinsTGT p.R596C Missense 16/48 - 1
3-164764729-C-T c.1787G>A p.R596K Missense 16/48 - 1
3-164764733-C-T c.1783G>A p.G595R Missense 16/48 - 1
3-164764733-C-G c.1783G>C p.G595R Missense 16/48 - 1
3-164764736-A-G c.1780T>C p.S594P Missense 16/48 - 3
3-164764742-C-T c.1774G>A p.A592T Missense 16/48 - 1
3-164764748-T-C c.1768A>G p.T590A Missense 16/48 - 1
3-164764751-A-C c.1765T>G p.S589A Missense 16/48 - 1
3-164764754-G-C c.1762C>G p.R588G Missense 16/48 - 1
3-164764759-AG-CT c.1756_1757inv p.L586S Missense 16/48 - 1
3-164764768-CT-GC c.1747_1748delinsGC p.S583A Missense 16/48 - 1
3-164764771-CT-GC c.1744_1745delinsGC p.R582A Missense 16/48 - 1
3-164764774-TT-GC c.1741_1742delinsGC p.K581A Missense 16/48 - 2
3-164764781-G-A c.1735C>T p.P579S Missense 16/48 - 1
3-164764781-G-C c.1735C>G p.P579A Missense 16/48 - 1
3-164764784-A-C c.1732T>G p.F578V Missense 16/48 - 1
3-164764784-A-T c.1732T>A p.F578I Missense 16/48 - 1
3-164764786-A-C c.1730T>G p.V577G Missense 16/48 - 12
3-164764786-A-G c.1730T>C p.V577A Missense 16/48 - 1
3-164764788-T-G c.1728A>C p.K576N Missense 16/48 - 1
3-164764789-TT-GC c.1726_1727delinsGC p.K576A Missense 16/48 - 1
3-164764792-T-C c.1724A>G p.Q575R Missense 16/48 - 1
3-164764795-A-G c.1721T>C p.V574A Missense 16/48 - 2
3-164764796-C-CA c.1719dup p.V574Cfs*7 Frameshift 16/48 - 1
3-164764800-T-A c.1716A>T p.Q572H Missense 16/48 - 1
3-164764800-T-G c.1716A>C p.Q572H Missense 16/48 - 1
3-164766809-C-T c.1715+106G>A - IntronicSNV - 15/47 1
3-164766835-T-C c.1715+80A>G - IntronicSNV - 15/47 1
3-164766918-T-G c.1712A>C p.E571A Missense 15/48 - 2
3-164766918-TC-CT c.1711_1712delinsAG p.E571R Missense 15/48 - 1
3-164766918-T-C c.1712A>G p.E571G Missense 15/48 - 1
3-164766922-T-C c.1708A>G p.T570A Missense 15/48 - 1
3-164766933-AT-GC c.1696_1697delinsGC p.M566A Missense 15/48 - 1
3-164766941-TCC-ACA c.1687_1689delinsTGT p.G563C Missense 15/48 - 1
3-164766942-C-G c.1688G>C p.G563A Missense 15/48 - 1
3-164766951-CT-GC c.1678_1679delinsGC p.S560A Missense 15/48 - 1
3-164766963-TA-GC c.1666_1667delinsGC p.Y556A Missense 15/48 - 1
3-164766963-T-C c.1667A>G p.Y556C Missense 15/48 - 1
3-164766969-TT-GC c.1660_1661delinsGC p.K554A Missense 15/48 - 1
3-164766972-C-G c.1658G>C p.G553A Missense 15/48 - 2
3-164766973-C-T c.1657G>A p.G553S Missense 15/48 - 1
3-164766974-CC-AA c.1655_1656delinsTT p.W552F Missense 15/48 - 1
3-164766976-A-C c.1654T>G p.W552G Missense 15/48 - 1
3-164766978-TT-GC c.1651_1652delinsGC p.N551A Missense 15/48 - 1
3-164766980-C-A c.1650G>T p.Q550H Missense 15/48 - 1
3-164766980-C-G c.1650G>C p.Q550H Missense 15/48 - 1
3-164766981-TG-GC c.1648_1649delinsGC p.Q550A Missense 15/48 - 1
3-164766982-TG-T c.1648del p.Q550Rfs*19 Frameshift 15/48 - 2
3-164766984-AC-GG c.1645_1646delinsCC p.V549P Missense 15/48 - 1
3-164766984-A-T c.1646T>A p.V549E Missense 15/48 - 1
3-164766986-A-T c.1644T>A p.A548= Synonymous 15/48 - 3
3-164766986-A-G c.1644T>C p.A548= Synonymous 15/48 - 3
3-164766986-A-C c.1644T>G p.A548= Synonymous 15/48 - 3
3-164766987-G-C c.1643C>G p.A548G Missense 15/48 - 1
3-164766987-G-T c.1643C>A p.A548D Missense 15/48 - 1
3-164766988-C-T c.1642G>A p.A548T Missense 15/48 - 1
3-164766990-T-C c.1640A>G p.D547G Missense 15/48 - 1
3-164766996-CA-AC c.1633_1634delinsGT p.C545V Missense 15/48 - 1
3-164767013-C-A c.1617G>T p.M539I Missense 15/48 - 1
3-164767018-G-A c.1612C>T p.L538F Missense 15/48 - 1
3-164767021-T-G c.1609A>C p.K537Q Missense 15/48 - 1
3-164767018-G-GT c.1611dup p.L538Tfs*17 Frameshift 15/48 - 1
3-164767023-T-A c.1607A>T p.D536V Missense 15/48 - 2
3-164767024-C-A c.1606G>T p.D536Y Missense 15/48 - 1
3-164767029-AT-TC c.1600_1601delinsGA p.I534D Missense 15/48 - 1
3-164767032-T-C c.1598A>G p.D533G Missense 15/48 - 1
3-164767148-T-A c.1598-116A>T - IntronicSNV - 14/47 1
3-164767148-T-C c.1598-116A>G - IntronicSNV - 14/47 1
3-164767587-A-G c.1589T>C p.F530S Missense 14/48 - 2
3-164767588-A-G c.1588T>C p.F530L Missense 14/48 - 3
3-164767586-A-T c.1590T>A p.F530L Missense 14/48 - 3
3-164767586-A-C c.1590T>G p.F530L Missense 14/48 - 3
3-164767590-GG-TC c.1585_1586delinsGA p.P529E Missense 14/48 - 1
3-164767596-TA-GG c.1579_1580delinsCC p.Y527P Missense 14/48 - 1
3-164767596-T-A c.1580A>T p.Y527F Missense 14/48 - 8
3-164767600-T-A c.1576A>T p.N526Y Missense 14/48 - 1
3-164767610-TAC-ACA c.1564_1566delinsTGT p.V522C Missense 14/48 - 1
3-164767614-T-G c.1562A>C p.N521T Missense 14/48 - 1
3-164767616-ACA-CTT c.1558_1560delinsAAG p.C520K Missense 14/48 - 1
3-164767617-CA-GT c.1558_1559delinsAC p.C520T Missense 14/48 - 1
3-164767619-TCC-GCT c.1555_1557delinsAGC p.G519S Missense 14/48 - 1
3-164767627-T-C c.1549A>G p.T517A Missense 14/48 - 1
3-164767628-TGA-ATG c.1546_1548delinsCAT p.S516H Missense 14/48 - 1
3-164767631-AC-CT c.1544_1545delinsAG p.G515E Missense 14/48 - 1
3-164767647-GA-AG c.1528_1529delinsCT p.S510L Missense 14/48 - 1
3-164767647-GA-TC c.1528_1529inv p.S510D Missense 14/48 - 1
3-164767648-A-C c.1528T>G p.S510A Missense 14/48 - 1
3-164767650-A-G c.1526T>C p.V509A Missense 14/48 - 1
3-164767652-TTC-ACA c.1522_1524delinsTGT p.E508C Missense 14/48 - 1
3-164767654-C-T c.1522G>A p.E508K Missense 14/48 - 1
3-164767656-TT-GC c.1519_1520delinsGC p.N507A Missense 14/48 - 1
3-164767661-G-C c.1515C>G p.D505E Missense 14/48 - 1
3-164767661-G-T c.1515C>A p.D505E Missense 14/48 - 1
3-164767662-T-A c.1514A>T p.D505V Missense 14/48 - 1
3-164767663-C-T c.1513G>A p.D505N Missense 14/48 - 1
3-164772957-C-T c.1512+25G>A - IntronicSNV - 13/47 1
3-164772983-A-C c.1511T>G p.I504S Missense 13/48 - 1
3-164772986-CA-GC c.1507_1508delinsGC p.W503A Missense 13/48 - 1
3-164772988-A-C c.1506T>G p.L502= Synonymous 13/48 - 1
3-164772988-A-T c.1506T>A p.L502= Synonymous 13/48 - 1
3-164772988-A-G c.1506T>C p.L502= Synonymous 13/48 - 1
3-164772988-AAG-CAT c.1504_1506delinsATG p.L502M Missense 13/48 - 1
3-164772989-AG-GC c.1504_1505delinsGC p.L502A Missense 13/48 - 2
3-164772995-TC-CG c.1498_1499delinsCG p.D500R Missense 13/48 - 1
3-164772995-T-A c.1499A>T p.D500V Missense 13/48 - 1
3-164772995-T-C c.1499A>G p.D500G Missense 13/48 - 1
3-164772996-C-T c.1498G>A p.D500N Missense 13/48 - 4
3-164772997-A-G c.1497T>C p.Y499= Synonymous 13/48 - 1
3-164773000-T-A c.1494A>T p.Q498H Missense 13/48 - 4
3-164773000-T-G c.1494A>C p.Q498H Missense 13/48 - 4
3-164773000-TTG-ATA c.1492_1494delinsTAT p.Q498Y Missense 13/48 - 1
3-164773000-TTG-GTC c.1492_1494delinsGAC p.Q498D Missense 13/48 - 2
3-164773000-TTG-CCA c.1492_1494delinsTGG p.Q498W Missense 13/48 - 1
3-164773001-T-C c.1493A>G p.Q498R Missense 13/48 - 13
3-164773001-TG-GC c.1492_1493delinsGC p.Q498A Missense 13/48 - 1
3-164773001-TG-AT c.1492_1493delinsAT p.Q498I Missense 13/48 - 1
3-164773001-TG-GA c.1492_1493delinsTC p.Q498S Missense 13/48 - 1
3-164773001-TG-GT c.1492_1493delinsAC p.Q498T Missense 13/48 - 1
3-164773002-G-T c.1492C>A p.Q498K Missense 13/48 - 1
3-164773010-T-G c.1484A>C p.Q495P Missense 13/48 - 1
3-164773010-T-C c.1484A>G p.Q495R Missense 13/48 - 1
3-164773011-G-C c.1483C>G p.Q495E Missense 13/48 - 1
3-164773013-TG-AC c.1480_1481delinsGT p.H494V Missense 13/48 - 1
3-164773025-CA-GC c.1468_1469delinsGC p.C490A Missense 13/48 - 1
3-164773029-C-G c.1465G>C p.E489Q Missense 13/48 - 1
3-164773034-G-A c.1460C>T p.A487V Missense 13/48 - 1
3-164773035-C-T c.1459G>A p.A487T Missense 13/48 - 1
3-164773037-CA-GC c.1456_1457delinsGC p.W486A Missense 13/48 - 1
3-164773042-ATC-TTA c.1450_1452delinsTAA p.D484* Nonsense 13/48 - 1
3-164773042-ATC-CTT c.1450_1452delinsAAG p.D484K Missense 13/48 - 2
3-164773042-ATC-TTG c.1450_1452delinsCAA p.D484Q Missense 13/48 - 1
3-164773051-G-C c.1443C>G p.N481K Missense 13/48 - 1
3-164773051-G-T c.1443C>A p.N481K Missense 13/48 - 1
3-164773056-G-A c.1438C>T p.P480S Missense 13/48 - 2
3-164773056-G-T c.1438C>A p.P480T Missense 13/48 - 1
3-164773057-GTT-TTG c.1435_1437delinsCAA p.N479Q Missense 13/48 - 1
3-164773057-G-A c.1437C>T p.N479= Synonymous 13/48 - 1
3-164773058-TT-AG c.1435_1436delinsCT p.N479L Missense 13/48 - 1
3-164773060-AG-CT c.1433_1434inv p.T478K Missense 13/48 - 57
3-164773060-AG-CC c.1433_1434delinsGG p.T478R Missense 13/48 - 3
3-164773061-GT-CA c.1432_1433delinsTG p.T478C Missense 13/48 - 1
3-164773061-G-A c.1433C>T p.T478I Missense 13/48 - 4
3-164773062-T-C c.1432A>G p.T478A Missense 13/48 - 1
3-164773071-G-C c.1423C>G p.P475A Missense 13/48 - 2
3-164773071-G-A c.1423C>T p.P475S Missense 13/48 - 1
3-164773074-A-G c.1420T>C p.Y474H Missense 13/48 - 1
3-164773075-TAC-CAT c.1417_1419delinsATG p.V473M Missense 13/48 - 1
3-164773079-G-C c.1415C>G p.T472R Missense 13/48 - 1
3-164773081-T-A c.1413A>T p.L471F Missense 13/48 - 1
3-164773081-T-G c.1413A>C p.L471F Missense 13/48 - 1
3-164773083-A-C c.1411T>G p.L471V Missense 13/48 - 1
3-164773089-G-C c.1405C>G p.P469A Missense 13/48 - 1
3-164773092-A-T c.1402T>A p.W468R Missense 13/48 - 1
3-164773092-A-G c.1402T>C p.W468R Missense 13/48 - 1
3-164773095-C-T c.1399G>A p.V467I Missense 13/48 - 1
3-164776751-C-G c.1398G>C p.E466D Missense 12/48 - 1
3-164776751-C-A c.1398G>T p.E466D Missense 12/48 - 1
3-164776752-T-G c.1397A>C p.E466A Missense 12/48 - 2
3-164776753-C-T c.1396G>A p.E466K Missense 12/48 - 2
3-164776758-AT-GC c.1390_1391delinsGC p.I464A Missense 12/48 - 1
3-164776759-T-C c.1390A>G p.I464V Missense 12/48 - 1
3-164776761-A-C c.1388T>G p.I463S Missense 12/48 - 1
3-164776764-G-A c.1385C>T p.P462L Missense 12/48 - 1
3-164776765-G-A c.1384C>T p.P462S Missense 12/48 - 1
3-164776765-G-C c.1384C>G p.P462A Missense 12/48 - 1
3-164776766-TGT-ACA c.1381_1383inv p.T461C Missense 12/48 - 1
3-164776767-G-A c.1382C>T p.T461I Missense 12/48 - 2
3-164776768-T-C c.1381A>G p.T461A Missense 12/48 - 1
3-164776768-T-G c.1381A>C p.T461P Missense 12/48 - 1
3-164776770-CT-GG c.1378_1379delinsCC p.S460P Missense 12/48 - 1
3-164776770-CT-GC c.1378_1379delinsGC p.S460A Missense 12/48 - 1
3-164776772-TCC-GTT c.1375_1377delinsAAC p.G459N Missense 12/48 - 1
3-164776773-C-T c.1376G>A p.G459E Missense 12/48 - 1
3-164776773-CC-GG c.1375_1376inv p.G459P Missense 12/48 - 1
3-164776776-T-G c.1373A>C p.D458A Missense 12/48 - 1
3-164776777-C-T c.1372G>A p.D458N Missense 12/48 - 1
3-164776785-TT-GC c.1363_1364delinsGC p.N455A Missense 12/48 - 1
3-164776785-TT-AG c.1363_1364delinsCT p.N455L Missense 12/48 - 1
3-164776788-AT-GC c.1360_1361delinsGC p.I454A Missense 12/48 - 1
3-164776791-CA-GC c.1357_1358delinsGC p.W453A Missense 12/48 - 2
3-164776798-G-A c.1351C>T p.H451Y Missense 12/48 - 1
3-164776798-G-C c.1351C>G p.H451D Missense 12/48 - 1
3-164776799-TTG-ACA c.1348_1350delinsTGT p.Q450C Missense 12/48 - 1
3-164776802-TGT-ATA c.1345_1347delinsTAT p.T449Y Missense 12/48 - 1
3-164776803-G-A c.1346C>T p.T449I Missense 12/48 - 1
3-164776803-G-T c.1346C>A p.T449K Missense 12/48 - 1
3-164776803-GT-TC c.1345_1346delinsGA p.T449E Missense 12/48 - 1
3-164776804-T-C c.1345A>G p.T449A Missense 12/48 - 2
3-164776804-T-A c.1345A>T p.T449S Missense 12/48 - 1
3-164776805-GTT-CTC c.1342_1344delinsGAG p.N448E Missense 12/48 - 1
3-164776806-TT-GC c.1342_1343delinsGC p.N448A Missense 12/48 - 1
3-164776809-C-G c.1340G>C p.G447A Missense 12/48 - 1
3-164776810-C-T c.1339G>A p.G447R Missense 12/48 - 2
3-164776812-CT-GC c.1336_1337delinsGC p.R446A Missense 12/48 - 1
3-164776815-T-G c.1334A>C p.E445A Missense 12/48 - 1
3-164776818-TA-GC c.1330_1331delinsGC p.Y444A Missense 12/48 - 3
3-164776818-T-A c.1331A>T p.Y444F Missense 12/48 - 3
3-164776818-T-C c.1331A>G p.Y444C Missense 12/48 - 1
3-164776821-GT-CC c.1327_1328delinsGG p.T443G Missense 12/48 - 1
3-164776821-G-T c.1328C>A p.T443N Missense 12/48 - 1
3-164776822-T-G c.1327A>C p.T443P Missense 12/48 - 1
3-164776822-T-C c.1327A>G p.T443A Missense 12/48 - 1
3-164776831-T-G c.1318A>C p.T440P Missense 12/48 - 1
3-164776833-GT-CC c.1315_1316delinsGG p.T439G Missense 12/48 - 1
3-164776834-T-A c.1315A>T p.T439S Missense 12/48 - 2
3-164776834-T-C c.1315A>G p.T439A Missense 12/48 - 1
3-164776836-C-T c.1313G>A p.G438E Missense 12/48 - 1
3-164776839-TT-CA c.1309_1310delinsTG p.N437C Missense 12/48 - 1
3-164776841-G-A c.1308C>T p.A436= Synonymous 12/48 - 1
3-164776842-GC-CA c.1306_1307delinsTG p.A436C Missense 12/48 - 1
3-164776845-CG-GC c.1303_1304delinsGC p.R435A Missense 12/48 - 1
3-164776845-C-T c.1304G>A p.R435H Missense 12/48 - 3
3-164776847-TC-AT c.1301_1302delinsAT p.R434H Missense 12/48 - 1
3-164776848-CG-GC c.1300_1301delinsGC p.R434A Missense 12/48 - 3
3-164776848-C-T c.1301G>A p.R434Q Missense 12/48 - 1
3-164776850-AC-CT c.1298_1299delinsAG p.G433E Missense 12/48 - 1
3-164776852-C-T c.1297G>A p.G433S Missense 12/48 - 1
3-164776852-C-G c.1297G>C p.G433R Missense 12/48 - 1
3-164776856-GGA-CTC c.1291_1293delinsGAG p.S431E Missense 12/48 - 5
3-164776857-GA-CC c.1291_1292delinsGG p.S431G Missense 12/48 - 1
3-164776858-A-C c.1291T>G p.S431A Missense 12/48 - 2
3-164776860-A-G c.1289T>C p.I430T Missense 12/48 - 1
3-164776863-G-C c.1286C>G p.A429G Missense 12/48 - 2
3-164776864-C-T c.1285G>A p.A429T Missense 12/48 - 1
3-164776866-G-A c.1283C>T p.P428L Missense 12/48 - 1
3-164776868-GTC-CTT c.1279_1281delinsAAG p.D427K Missense 12/48 - 1
3-164776869-T-G c.1280A>C p.D427A Missense 12/48 - 1
3-164776870-C-T c.1279G>A p.D427N Missense 12/48 - 1
3-164776956-CA-AT c.1277_1278delinsAT p.L426Y Missense 11/48 - 1
3-164776958-A-C c.1276T>G p.L426V Missense 11/48 - 1
3-164776958-A-G c.1276T>C p.L426= Synonymous 11/48 - 1
3-164776956-C-T c.1278G>A p.L426= Synonymous 11/48 - 1
3-164776959-GAT-TTA c.1273_1275delinsTAA p.I425* Nonsense 11/48 - 1
3-164776961-T-C c.1273A>G p.I425V Missense 11/48 - 1
3-164776962-G-C c.1272C>G p.I424M Missense 11/48 - 1
3-164776963-GA-G c.1271del p.I424Tfs*9 Frameshift 11/48 - 1
3-164776963-A-T c.1271T>A p.I424N Missense 11/48 - 1
3-164776963-AT-CC c.1270_1271delinsGG p.I424G Missense 11/48 - 1
3-164776964-T-A c.1270A>T p.I424F Missense 11/48 - 1
3-164776967-C-A c.1267G>T p.V423F Missense 11/48 - 1
3-164776970-A-C c.1264T>G p.Y422D Missense 11/48 - 1
3-164776971-TTT-ACA c.1261_1263delinsTGT p.K421C Missense 11/48 - 1
3-164776972-T-C c.1262A>G p.K421R Missense 11/48 - 1
3-164776977-TCC-GTT c.1255_1257delinsAAC p.G419N Missense 11/48 - 1
3-164776984-T-G c.1250A>C p.D417A Missense 11/48 - 2
3-164776984-TC-AA c.1249_1250delinsTT p.D417F Missense 11/48 - 1
3-164776987-TG-GC c.1246_1247delinsGC p.H416A Missense 11/48 - 1
3-164776989-C-A c.1245G>T p.L415F Missense 11/48 - 1
3-164776989-C-G c.1245G>C p.L415F Missense 11/48 - 1
3-164776991-A-T c.1243T>A p.L415M Missense 11/48 - 1
3-164776993-T-G c.1241A>C p.D414A Missense 11/48 - 4
3-164776997-G-A c.1237C>T p.Q413* Nonsense 11/48 - 1
3-164777000-C-A c.1234G>T p.V412L Missense 11/48 - 2
3-164777000-C-G c.1234G>C p.V412L Missense 11/48 - 2
3-164777008-G-A c.1226C>T p.P409L Missense 11/48 - 1
3-164777010-GAG-TTA c.1222_1224delinsTAA p.L408* Nonsense 11/48 - 1
3-164777010-GAG-CCA c.1222_1224delinsTGG p.L408W Missense 11/48 - 1
3-164777010-G-GA c.1223dup p.Q410Sfs*8 Frameshift 11/48 - 1
3-164777012-G-A c.1222C>T p.L408F Missense 11/48 - 1
3-164777015-C-T c.1219G>A p.G407R Missense 11/48 - 4
3-164777015-C-G c.1219G>C p.G407R Missense 11/48 - 4
3-164777019-AAA-CTT c.1213_1215delinsAAG p.F405K Missense 11/48 - 1
3-164777020-AA-CG c.1213_1214delinsCG p.F405R Missense 11/48 - 1
3-164777021-A-G c.1213T>C p.F405L Missense 11/48 - 2
3-164777019-A-T c.1215T>A p.F405L Missense 11/48 - 2
3-164777019-A-C c.1215T>G p.F405L Missense 11/48 - 2
3-164777022-CGC-ACA c.1210_1212delinsTGT p.A404C Missense 11/48 - 1
3-164777022-C-T c.1212G>A p.A404= Synonymous 11/48 - 1
3-164777023-GC-AG c.1210_1211delinsCT p.A404L Missense 11/48 - 1
3-164777023-G-C c.1211C>G p.A404G Missense 11/48 - 1
3-164777023-G-A c.1211C>T p.A404V Missense 11/48 - 1
3-164777024-C-T c.1210G>A p.A404T Missense 11/48 - 1
3-164777026-A-C c.1208T>G p.V403G Missense 11/48 - 1
3-164777030-G-C c.1204C>G p.Q402E Missense 11/48 - 1
3-164777030-G-A c.1204C>T p.Q402* Nonsense 11/48 - 1
3-164777032-T-A c.1202A>T p.D401V Missense 11/48 - 1
3-164777032-T-G c.1202A>C p.D401A Missense 11/48 - 1
3-164777033-C-A c.1201G>T p.D401Y Missense 11/48 - 1
3-164777035-T-C c.1199A>G p.Y400C Missense 11/48 - 1
3-164777038-G-A c.1196C>T p.T399I Missense 11/48 - 1
3-164777038-GT-CA c.1195_1196delinsTG p.T399C Missense 11/48 - 1
3-164777044-T-G c.1190A>C p.D397A Missense 11/48 - 1
3-164777047-T-C c.1187A>G p.K396R Missense 11/48 - 2
3-164777056-TC-CT c.1177_1178delinsAG p.E393R Missense 11/48 - 1
3-164777056-T-G c.1178A>C p.E393A Missense 11/48 - 1
3-164777057-C-G c.1177G>C p.E393Q Missense 11/48 - 1
3-164777059-A-T c.1175T>A p.M392K Missense 11/48 - 1
3-164777065-T-G c.1169A>C p.D390A Missense 11/48 - 2
3-164777069-T-C c.1165A>G p.I389V Missense 11/48 - 2
3-164777074-G-T c.1160C>A p.T387N Missense 11/48 - 1
3-164777077-AC-GT c.1156_1157inv p.V386T Missense 11/48 - 1
3-164777079-CTG-ACA c.1153_1155delinsTGT p.Q385C Missense 11/48 - 1
3-164777082-T-A c.1152A>T p.T384= Synonymous 11/48 - 1
3-164777086-T-G c.1148A>C p.D383A Missense 11/48 - 1
3-164777677-T-G c.1146+13A>C - IntronicSNV - 10/47 1
3-164777691-AA-GC c.1144_1145delinsGC p.F382A Missense 10/48 - 1
3-164777695-G-T c.1141C>A p.P381T Missense 10/48 - 1
3-164777703-G-A c.1133C>T p.A378V Missense 10/48 - 1
3-164777703-GC-CA c.1132_1133delinsTG p.A378C Missense 10/48 - 1
3-164777705-TTC-ACA c.1129_1131delinsTGT p.E377C Missense 10/48 - 1
3-164777706-TC-AG c.1129_1130delinsCT p.E377L Missense 10/48 - 1
3-164777706-T-G c.1130A>C p.E377A Missense 10/48 - 1
3-164777707-C-G c.1129G>C p.E377Q Missense 10/48 - 1
3-164777709-CG-GT c.1126_1127delinsAC p.R376T Missense 10/48 - 1
3-164777709-CG-GC c.1126_1127delinsGC p.R376A Missense 10/48 - 1
3-164777709-C-T c.1127G>A p.R376Q Missense 10/48 - 1
3-164777712-TT-GC c.1123_1124delinsGC p.N375A Missense 10/48 - 1
3-164777712-T-C c.1124A>G p.N375S Missense 10/48 - 1
3-164777717-CCT-ACA c.1117_1119delinsTGT p.R373C Missense 10/48 - 1
3-164777724-A-G c.1112T>C p.V371A Missense 10/48 - 1
3-164777725-C-T c.1111G>A p.V371M Missense 10/48 - 3
3-164777727-T-G c.1109A>C p.E370A Missense 10/48 - 1
3-164777729-TTT-GTC c.1105_1107delinsGAC p.K369D Missense 10/48 - 1
3-164777730-TT-GC c.1105_1106delinsGC p.K369A Missense 10/48 - 1
3-164777730-T-C c.1106A>G p.K369R Missense 10/48 - 1
3-164777730-T-A c.1106A>T p.K369I Missense 10/48 - 1
3-164777733-AC-CA c.1102_1103delinsTG p.V368W Missense 10/48 - 1
3-164777733-A-G c.1103T>C p.V368A Missense 10/48 - 1
3-164777735-TAC-AAA c.1099_1101delinsTTT p.V367F Missense 10/48 - 5
3-164777736-AC-TT c.1099_1100delinsAA p.V367K Missense 10/48 - 1
3-164777738-A-C c.1098T>G p.D366E Missense 10/48 - 1
3-164777738-A-T c.1098T>A p.D366E Missense 10/48 - 1
3-164777744-TGA-GTC c.1090_1092delinsGAC p.S364D Missense 10/48 - 1
3-164777746-A-C c.1090T>G p.S364A Missense 10/48 - 1
3-164777747-CT-GC c.1088_1089delinsGC p.K363S Missense 10/48 - 1
3-164777751-TA-GC c.1084_1085delinsGC p.Y362A Missense 10/48 - 1
3-164777756-CC-AA c.1079_1080delinsTT p.W360F Missense 10/48 - 1
3-164777759-GCG-CTC c.1075_1077delinsGAG p.R359E Missense 10/48 - 2
3-164777759-GCG-TCA c.1075_1077delinsTGA p.R359* Nonsense 10/48 - 1
3-164777760-CG-GC c.1075_1076delinsGC p.R359A Missense 10/48 - 2
3-164777762-ACT-CTC c.1072_1074delinsGAG p.S358E Missense 10/48 - 2
3-164777762-ACT-CCA c.1072_1074delinsTGG p.S358W Missense 10/48 - 1
3-164777763-CT-AG c.1072_1073inv p.S358L Missense 10/48 - 1
3-164777764-T-A c.1072A>T p.S358C Missense 10/48 - 1
3-164777771-GAA-CTT c.1063_1065delinsAAG p.F355K Missense 10/48 - 1
3-164777772-A-C c.1064T>G p.F355C Missense 10/48 - 1
3-164777772-AA-TG c.1063_1064delinsCA p.F355H Missense 10/48 - 1
3-164777774-TC-GT c.1061_1062delinsAC p.G354D Missense 10/48 - 1
3-164777775-C-T c.1061G>A p.G354E Missense 10/48 - 2
3-164777778-AG-TC c.1057_1058delinsGA p.L353D Missense 10/48 - 2
3-164777778-AG-CA c.1057_1058delinsTG p.L353C Missense 10/48 - 1
3-164777778-AG-GC c.1057_1058delinsGC p.L353A Missense 10/48 - 1
3-164777779-G-A c.1057C>T p.L353F Missense 10/48 - 1
3-164777779-AG-A c.1057del p.G354Dfs*4 Frameshift 10/48 - 1
3-164777784-CA-C c.1051del p.W351Gfs*7 Frameshift 10/48 - 1
3-164777788-A-C c.1048T>G p.Y350D Missense 10/48 - 1
3-164777789-TGC-AAA c.1045_1047delinsTTT p.A349F Missense 10/48 - 1
3-164777790-GC-CT c.1045_1046delinsAG p.A349R Missense 10/48 - 1
3-164777793-G-A c.1043C>T p.P348L Missense 10/48 - 2
3-164777795-CAT-ACA c.1039_1041delinsTGT p.M347C Missense 10/48 - 1
3-164777796-A-G c.1040T>C p.M347T Missense 10/48 - 1
3-164777796-AT-TA c.1039_1040delinsTA p.M347* Nonsense 10/48 - 1
3-164777799-GC-AT c.1036_1037delinsAT p.A346I Missense 10/48 - 1
3-164777804-TAG-ACA c.1030_1032delinsTGT p.L344C Missense 10/48 - 1
3-164777804-TAG-GTC c.1030_1032delinsGAC p.L344D Missense 10/48 - 1
3-164777805-AG-TC c.1030_1031delinsGA p.L344E Missense 10/48 - 1
3-164777806-G-C c.1030C>G p.L344V Missense 10/48 - 1
3-164777808-C-G c.1028G>C p.G343A Missense 10/48 - 1
3-164777812-C-T c.1024G>A p.V342I Missense 10/48 - 1
3-164777814-A-G c.1022T>C p.L341P Missense 10/48 - 2
3-164780166-TA-GC c.1012_1013delinsGC p.Y338A Missense 9/48 - 4
3-164780168-C-T c.1011G>A p.Q337= Synonymous 9/48 - 1
3-164780169-TG-GC c.1009_1010delinsGC p.Q337A Missense 9/48 - 1
3-164780171-T-A c.1008A>T p.Q336H Missense 9/48 - 1
3-164780171-T-G c.1008A>C p.Q336H Missense 9/48 - 1
3-164780172-T-C c.1007A>G p.Q336R Missense 9/48 - 1
3-164780174-AA-CT c.1004_1005delinsAG p.V335E Missense 9/48 - 1
3-164780176-C-G c.1003G>C p.V335L Missense 9/48 - 1
3-164780182-G-C c.997C>G p.Q333E Missense 9/48 - 1
3-164780184-T-G c.995A>C p.E332A Missense 9/48 - 1
3-164780185-C-G c.994G>C p.E332Q Missense 9/48 - 1
3-164780186-TGG-GTC c.991_993delinsGAC p.P331D Missense 9/48 - 1
3-164780188-G-A c.991C>T p.P331S Missense 9/48 - 3
3-164780186-TG-T c.992del p.P331Qfs*4 Frameshift 9/48 - 1
3-164780189-TGT-ATA c.988_990delinsTAT p.T330Y Missense 9/48 - 1
3-164780190-GT-AG c.988_989delinsCT p.T330L Missense 9/48 - 1
3-164780191-T-C c.988A>G p.T330A Missense 9/48 - 2
3-164780194-C-T c.985G>A p.D329N Missense 9/48 - 1
3-164780195-CTCCTAGAAGGATGTA-C c.970_984del p.Y324_G328del InFrameDeletion 9/48 - 1
3-164780196-C-G c.983G>C p.G328A Missense 9/48 - 1
3-164780196-C-T c.983G>A p.G328E Missense 9/48 - 1
3-164780197-C-T c.982G>A p.G328R Missense 9/48 - 1
3-164780197-C-G c.982G>C p.G328R Missense 9/48 - 1
3-164780199-AG-GA c.979_980delinsTC p.L327S Missense 9/48 - 1
3-164780200-G-C c.979C>G p.L327V Missense 9/48 - 1
3-164780203-G-T c.976C>A p.L326I Missense 9/48 - 1
3-164780208-T-A c.971A>T p.Y324F Missense 9/48 - 2
3-164780208-TA-GC c.970_971delinsGC p.Y324A Missense 9/48 - 1
3-164780208-TA-AG c.970_971delinsCT p.Y324L Missense 9/48 - 1
3-164780211-AA-GC c.967_968delinsGC p.F323A Missense 9/48 - 1
3-164780211-A-T c.968T>A p.F323Y Missense 9/48 - 1
3-164780214-T-G c.965A>C p.D322A Missense 9/48 - 2
3-164780214-TC-CT c.964_965delinsAG p.D322S Missense 9/48 - 1
3-164780216-CAG-AAA c.961_963delinsTTT p.L321F Missense 9/48 - 2
3-164780216-C-A c.963G>T p.L321= Synonymous 9/48 - 1
3-164780216-C-T c.963G>A p.L321= Synonymous 9/48 - 1
3-164780216-C-G c.963G>C p.L321= Synonymous 9/48 - 1
3-164780218-G-A c.961C>T p.L321= Synonymous 9/48 - 1
3-164780217-A-G c.962T>C p.L321P Missense 9/48 - 1
3-164780217-AG-TC c.961_962delinsGA p.L321E Missense 9/48 - 1
3-164780217-AG-GC c.961_962delinsGC p.L321A Missense 9/48 - 1
3-164780217-A-AG c.961dup p.L321Pfs*43 Frameshift 9/48 - 1
3-164780219-AAT-CCA c.958_960delinsTGG p.I320W Missense 9/48 - 1
3-164780218-GA-G c.960del p.L321Wfs*7 Frameshift 9/48 - 1
3-164780222-GC-CT c.956_957delinsAG p.G319E Missense 9/48 - 1
3-164780223-C-G c.956G>C p.G319A Missense 9/48 - 1
3-164780224-C-T c.955G>A p.G319S Missense 9/48 - 1
3-164780225-ACC-CCA c.952_954delinsTGG p.G318W Missense 9/48 - 1
3-164780226-C-G c.953G>C p.G318A Missense 9/48 - 2
3-164780229-GT-AG c.949_950delinsCT p.T317L Missense 9/48 - 1
3-164780229-GGT-G c.949_950del p.T317Rfs*46 Frameshift 9/48 - 1
3-164780232-AC-GG c.946_947delinsCC p.V316P Missense 9/48 - 1
3-164780232-AC-GT c.946_947inv p.V316T Missense 9/48 - 1
3-164780232-A-T c.947T>A p.V316D Missense 9/48 - 1
3-164780233-C-T c.946G>A p.V316I Missense 9/48 - 1
3-164780234-T-A c.945A>T p.R315S Missense 9/48 - 1
3-164780235-TC-T c.944del p.R315Kfs*13 Frameshift 9/48 - 1
3-164780235-CT-GC c.943_944delinsGC p.R315A Missense 9/48 - 1
3-164780235-TCTA-T c.942_944del p.Y314_R315delins* MultiAAMissense 9/48 - 1
3-164780235-CT-AG c.943_944inv p.R315L Missense 9/48 - 1
3-164780238-TA-GC c.940_941delinsGC p.Y314A Missense 9/48 - 1
3-164780238-T-C c.941A>G p.Y314C Missense 9/48 - 3
3-164780239-A-G c.940T>C p.Y314H Missense 9/48 - 2
3-164780239-A-C c.940T>G p.Y314D Missense 9/48 - 1
3-164780240-T-C c.939A>G p.T313= Synonymous 9/48 - 1
3-164780240-T-A c.939A>T p.T313= Synonymous 9/48 - 1
3-164780240-T-G c.939A>C p.T313= Synonymous 9/48 - 1
3-164780242-T-C c.937A>G p.T313A Missense 9/48 - 3
3-164780243-TAC-CAT c.934_936delinsATG p.V312M Missense 9/48 - 2
3-164780250-GG-CC c.928_929inv p.P310G Missense 9/48 - 1
3-164780259-TG-GT c.919_920delinsAC p.Q307T Missense 9/48 - 1
3-164780259-T-A c.920A>T p.Q307L Missense 9/48 - 1
3-164780265-AA-GC c.913_914delinsGC p.F305A Missense 9/48 - 1
3-164780266-A-G c.913T>C p.F305L Missense 9/48 - 1
3-164780264-A-T c.915T>A p.F305L Missense 9/48 - 1
3-164780264-A-C c.915T>G p.F305L Missense 9/48 - 1
3-164780268-AT-GC c.910_911delinsGC p.I304A Missense 9/48 - 1
3-164781234-T-G c.903A>C p.A301= Synonymous 8/48 - 1
3-164781234-T-C c.903A>G p.A301= Synonymous 8/48 - 1
3-164781234-T-A c.903A>T p.A301= Synonymous 8/48 - 1
3-164781235-G-C c.902C>G p.A301G Missense 8/48 - 1
3-164781236-C-T c.901G>A p.A301T Missense 8/48 - 1
3-164781236-C-G c.901G>C p.A301P Missense 8/48 - 1
3-164781236-C-A c.901G>T p.A301S Missense 8/48 - 1
3-164781238-T-G c.899A>C p.N300T Missense 8/48 - 1
3-164781239-T-A c.898A>T p.N300Y Missense 8/48 - 1
3-164781240-GCT-CTC c.895_897delinsGAG p.S299E Missense 8/48 - 1
3-164781241-CT-GC c.895_896delinsGC p.S299A Missense 8/48 - 2
3-164781241-C-T c.896G>A p.S299N Missense 8/48 - 1
3-164781244-TT-GC c.892_893delinsGC p.N298A Missense 8/48 - 2
3-164781250-AA-CT c.886_887delinsAG p.L296R Missense 8/48 - 1
3-164781252-A-G c.885T>C p.F295= Synonymous 8/48 - 1
3-164781253-A-G c.884T>C p.F295S Missense 8/48 - 1
3-164781254-A-G c.883T>C p.F295L Missense 8/48 - 1
3-164781252-A-T c.885T>A p.F295L Missense 8/48 - 1
3-164781252-A-C c.885T>G p.F295L Missense 8/48 - 1
3-164781257-C-A c.880G>T p.V294F Missense 8/48 - 1
3-164781259-C-T c.878G>A p.G293D Missense 8/48 - 1
3-164781261-G-T c.876C>A p.F292L Missense 8/48 - 1
3-164781262-AA-GC c.874_875delinsGC p.F292A Missense 8/48 - 1
3-164781266-A-T c.871T>A p.S291T Missense 8/48 - 1
3-164781267-C-G c.870G>C p.K290N Missense 8/48 - 1
3-164781267-C-A c.870G>T p.K290N Missense 8/48 - 1
3-164781268-TT-GC c.868_869delinsGC p.K290A Missense 8/48 - 6
3-164781268-T-A c.869A>T p.K290M Missense 8/48 - 1
3-164781268-T-C c.869A>G p.K290R Missense 8/48 - 3
3-164781269-T-C c.868A>G p.K290E Missense 8/48 - 3
3-164781270-TC-GT c.866_867delinsAC p.G289D Missense 8/48 - 1
3-164781271-C-T c.866G>A p.G289E Missense 8/48 - 1
3-164781270-T-TC c.866dup p.S291Vfs*9 Frameshift 8/48 - 1
3-164781274-G-C c.863C>G p.S288C Missense 8/48 - 115
3-164781274-G-T c.863C>A p.S288Y Missense 8/48 - 1
3-164781274-GA-TG c.862_863delinsCA p.S288H Missense 8/48 - 1
3-164781274-AGATGTATCTT-A c.854_863del p.E285Vfs*9 Frameshift 8/48 - 1
3-164781275-A-C c.862T>G p.S288A Missense 8/48 - 2
3-164781276-TGT-GTC c.859_861delinsGAC p.T287D Missense 8/48 - 3
3-164781279-A-C c.858T>G p.D286E Missense 8/48 - 1
3-164781279-A-T c.858T>A p.D286E Missense 8/48 - 1
3-164781280-TC-CG c.856_857delinsCG p.D286R Missense 8/48 - 2
3-164781280-T-A c.857A>T p.D286V Missense 8/48 - 1
3-164781280-T-C c.857A>G p.D286G Missense 8/48 - 2
3-164781281-C-A c.856G>T p.D286Y Missense 8/48 - 1
3-164781283-T-G c.854A>C p.E285A Missense 8/48 - 1
3-164781284-C-G c.853G>C p.E285Q Missense 8/48 - 2
3-164781284-C-T c.853G>A p.E285K Missense 8/48 - 2
3-164781284-C-A c.853G>T p.E285* Nonsense 8/48 - 1
3-164781286-A-G c.851T>C p.I284T Missense 8/48 - 1
3-164781286-AT-CA c.850_851delinsTG p.I284C Missense 8/48 - 2
3-164781289-CA-GC c.847_848delinsGC p.C283A Missense 8/48 - 2
3-164781289-C-T c.848G>A p.C283Y Missense 8/48 - 1
3-164781290-A-T c.847T>A p.C283S Missense 8/48 - 1
3-164781289-C-G c.848G>C p.C283S Missense 8/48 - 1
3-164781291-C-G c.846G>C p.M282I Missense 8/48 - 1
3-164781293-T-G c.844A>C p.M282L Missense 8/48 - 1
3-164781293-T-A c.844A>T p.M282L Missense 8/48 - 1
3-164781293-T-C c.844A>G p.M282V Missense 8/48 - 1
3-164781294-AA-CC c.842_843delinsGG p.F281W Missense 8/48 - 1
3-164781295-A-T c.842T>A p.F281Y Missense 8/48 - 1
3-164781295-AA-GC c.841_842delinsGC p.F281A Missense 8/48 - 1
3-164781295-AA-TC c.841_842delinsGA p.F281D Missense 8/48 - 1
3-164781296-A-T c.841T>A p.F281I Missense 8/48 - 1
3-164781298-AA-GC c.838_839delinsGC p.F280A Missense 8/48 - 1
3-164781300-TGT-ACA c.835_837inv p.T279C Missense 8/48 - 1
3-164781302-T-C c.835A>G p.T279A Missense 8/48 - 1
3-164781307-TG-GC c.829_830delinsGC p.H277A Missense 8/48 - 2
3-164781308-G-T c.829C>A p.H277N Missense 8/48 - 1
3-164781310-C-G c.827G>C p.G276A Missense 8/48 - 1
3-164781313-TA-GC c.823_824delinsGC p.Y275A Missense 8/48 - 1
3-164781314-A-G c.823T>C p.Y275H Missense 8/48 - 1
3-164781315-TA-AC c.821_822delinsGT p.L274C Missense 8/48 - 1
3-164781316-A-G c.821T>C p.L274S Missense 8/48 - 2
3-164781316-AA-CC c.820_821delinsGG p.L274G Missense 8/48 - 6
3-164781316-AA-GC c.820_821delinsGC p.L274A Missense 8/48 - 2
3-164781319-TT-AG c.817_818delinsCT p.N273L Missense 8/48 - 1
3-164781320-T-A c.817A>T p.N273Y Missense 8/48 - 1
3-164781321-ATT-TTG c.814_816delinsCAA p.N272Q Missense 8/48 - 2
3-164781323-T-C c.814A>G p.N272D Missense 8/48 - 1
3-164781323-T-A c.814A>T p.N272Y Missense 8/48 - 1
3-164781324-A-T c.813T>A p.N271K Missense 8/48 - 1
3-164781324-A-C c.813T>G p.N271K Missense 8/48 - 1
3-164781325-T-C c.812A>G p.N271S Missense 8/48 - 1
3-164781325-TT-AG c.811_812delinsCT p.N271L Missense 8/48 - 1
3-164781326-T-C c.811A>G p.N271D Missense 8/48 - 1
3-164781368-G-A c.808-39C>T - IntronicSNV - 7/47 1
3-164783050-T-G c.806A>C p.D269A Missense 7/48 - 3
3-164783051-C-T c.805G>A p.D269N Missense 7/48 - 1
3-164783052-ACC-TCA c.802_804delinsTGA p.G268* Nonsense 7/48 - 1
3-164783053-C-T c.803G>A p.G268D Missense 7/48 - 1
3-164783053-CC-GT c.802_803delinsAC p.G268T Missense 7/48 - 1
3-164783053-C-G c.803G>C p.G268A Missense 7/48 - 1
3-164783053-CC-GG c.802_803inv p.G268P Missense 7/48 - 1
3-164783057-G-A c.799C>T p.P267S Missense 7/48 - 1
3-164783058-AA-TT c.797_798inv p.L266Q Missense 7/48 - 1
3-164783059-AG-CA c.796_797delinsTG p.L266C Missense 7/48 - 1
3-164783060-G-C c.796C>G p.L266V Missense 7/48 - 2
3-164783066-C-T c.790G>A p.D264N Missense 7/48 - 1
3-164783068-CG-TC c.787_788delinsGA p.R263E Missense 7/48 - 1
3-164783068-CG-AT c.787_788delinsAT p.R263I Missense 7/48 - 1
3-164783070-A-C c.786T>G p.T262= Synonymous 7/48 - 1
3-164783073-A-G c.783T>C p.F261= Synonymous 7/48 - 1
3-164783074-A-T c.782T>A p.F261Y Missense 7/48 - 4
3-164783074-AA-GG c.781_782delinsCC p.F261P Missense 7/48 - 3
3-164783074-AA-GC c.781_782delinsGC p.F261A Missense 7/48 - 1
3-164783074-A-G c.782T>C p.F261S Missense 7/48 - 1
3-164783077-AT-CA c.778_779delinsTG p.I260C Missense 7/48 - 2
3-164783077-AT-GC c.778_779delinsGC p.I260A Missense 7/48 - 2
3-164783078-T-C c.778A>G p.I260V Missense 7/48 - 1
3-164783082-CC-AA c.773_774delinsTT p.W258F Missense 7/48 - 4
3-164783083-C-A c.773G>T p.W258L Missense 7/48 - 4
3-164783083-CA-GC c.772_773delinsGC p.W258A Missense 7/48 - 1
3-164783084-A-T c.772T>A p.W258R Missense 7/48 - 1
3-164783084-A-G c.772T>C p.W258R Missense 7/48 - 1
3-164783085-TGT-ACA c.769_771inv p.T257C Missense 7/48 - 1
3-164783086-GT-TA c.769_770delinsTA p.T257* Nonsense 7/48 - 1
3-164783087-T-A c.769A>T p.T257S Missense 7/48 - 1
3-164783089-T-C c.767A>G p.K256R Missense 7/48 - 1
3-164783090-T-C c.766A>G p.K256E Missense 7/48 - 1
3-164783095-G-A c.761C>T p.S254F Missense 7/48 - 1
3-164783095-GA-TT c.760_761delinsAA p.S254N Missense 7/48 - 1
3-164783096-A-C c.760T>G p.S254A Missense 7/48 - 1
3-164783101-T-G c.755A>C p.D252A Missense 7/48 - 1
3-164783102-C-T c.754G>A p.D252N Missense 7/48 - 1
3-164783102-C-A c.754G>T p.D252Y Missense 7/48 - 1
3-164783104-T-C c.752A>G p.H251R Missense 7/48 - 1
3-164783104-TG-GC c.751_752delinsGC p.H251A Missense 7/48 - 1
3-164783105-G-T c.751C>A p.H251N Missense 7/48 - 1
3-164783106-ACG-CTT c.748_750delinsAAG p.R250K Missense 7/48 - 1
3-164783107-CG-GC c.748_749delinsGC p.R250A Missense 7/48 - 2
3-164783107-C-T c.749G>A p.R250H Missense 7/48 - 1
3-164783108-G-A c.748C>T p.R250C Missense 7/48 - 4
3-164783109-AAA-CTC c.745_747delinsGAG p.F249E Missense 7/48 - 1
3-164783111-A-G c.745T>C p.F249L Missense 7/48 - 1
3-164783109-A-T c.747T>A p.F249L Missense 7/48 - 1
3-164783109-A-C c.747T>G p.F249L Missense 7/48 - 1
3-164783112-TCT-CCA c.742_744delinsTGG p.R248W Missense 7/48 - 1
3-164783113-C-T c.743G>A p.R248K Missense 7/48 - 1
3-164783113-CT-GC c.742_743delinsGC p.R248A Missense 7/48 - 1
3-164783116-TT-GC c.739_740delinsGC p.K247A Missense 7/48 - 1
3-164783116-TT-AG c.739_740delinsCT p.K247L Missense 7/48 - 1
3-164783118-A-T c.738T>A p.H246Q Missense 7/48 - 1
3-164783118-A-C c.738T>G p.H246Q Missense 7/48 - 1
3-164783119-TG-GC c.736_737delinsGC p.H246A Missense 7/48 - 2
3-164783119-TG-CA c.736_737inv p.H246C Missense 7/48 - 1
3-164783120-G-T c.736C>A p.H246N Missense 7/48 - 1
3-164783121-AAC-CTT c.733_735delinsAAG p.V245K Missense 7/48 - 1
3-164783121-AAC-TTG c.733_735delinsCAA p.V245Q Missense 7/48 - 1
3-164783122-AC-GT c.733_734inv p.V245T Missense 7/48 - 1
3-164783123-C-T c.733G>A p.V245I Missense 7/48 - 1
3-164783123-C-A c.733G>T p.V245F Missense 7/48 - 1
3-164783124-T-A c.732A>T p.Q244H Missense 7/48 - 1
3-164783124-T-G c.732A>C p.Q244H Missense 7/48 - 1
3-164783126-G-A c.730C>T p.Q244* Nonsense 7/48 - 1
3-164783127-TTC-ACA c.727_729delinsTGT p.E243C Missense 7/48 - 2
3-164783128-T-G c.728A>C p.E243A Missense 7/48 - 2
3-164783128-TC-GG c.727_728delinsCC p.E243P Missense 7/48 - 2
3-164783128-T-C c.728A>G p.E243G Missense 7/48 - 1
3-164783129-C-G c.727G>C p.E243Q Missense 7/48 - 1
3-164783130-T-A c.726A>T p.G242= Synonymous 7/48 - 2
3-164783130-T-C c.726A>G p.G242= Synonymous 7/48 - 2
3-164783130-T-G c.726A>C p.G242= Synonymous 7/48 - 2
3-164783132-C-A c.724G>T p.G242* Nonsense 7/48 - 1
3-164783133-AAT-CCA c.721_723delinsTGG p.I241W Missense 7/48 - 2
3-164783134-AT-CA c.721_722delinsTG p.I241C Missense 7/48 - 1
3-164783134-AT-TG c.721_722delinsCA p.I241H Missense 7/48 - 1
3-164783134-A-G c.722T>C p.I241T Missense 7/48 - 1
3-164783137-C-G c.719G>C p.G240A Missense 7/48 - 1
3-164783137-C-T c.719G>A p.G240D Missense 7/48 - 1
3-164783138-C-G c.718G>C p.G240R Missense 7/48 - 2
3-164783138-C-A c.718G>T p.G240C Missense 7/48 - 1
3-164783140-TA-GC c.715_716delinsGC p.Y239A Missense 7/48 - 1
3-164783140-T-C c.716A>G p.Y239C Missense 7/48 - 1
3-164783143-AT-GC c.712_713delinsGC p.I238A Missense 7/48 - 1
3-164783148-A-C c.708T>G p.D236E Missense 7/48 - 1
3-164783148-A-T c.708T>A p.D236E Missense 7/48 - 1
3-164783150-C-T c.706G>A p.D236N Missense 7/48 - 4
3-164783150-C-G c.706G>C p.D236H Missense 7/48 - 1
3-164783151-A-G c.705T>C p.S235= Synonymous 7/48 - 1
3-164783151-ACT-CTC c.703_705delinsGAG p.S235E Missense 7/48 - 1
3-164783152-CT-AA c.703_704delinsTT p.S235F Missense 7/48 - 8
3-164783153-T-A c.703A>T p.S235C Missense 7/48 - 1
3-164783158-AG-GC c.697_698delinsGC p.L233A Missense 7/48 - 2
3-164783160-ACG-CTT c.694_696delinsAAG p.R232K Missense 7/48 - 1
3-164783161-CG-GC c.694_695delinsGC p.R232A Missense 7/48 - 4
3-164783164-GT-CA c.691_692delinsTG p.T231C Missense 7/48 - 1
3-164783165-T-C c.691A>G p.T231A Missense 7/48 - 4
3-164783168-A-C c.688T>G p.S230A Missense 7/48 - 2
3-164783170-A-T c.686T>A p.I229N Missense 7/48 - 1
3-164783170-AT-GC c.685_686delinsGC p.I229A Missense 7/48 - 2
3-164783170-AT-TA c.685_686delinsTA p.I229Y Missense 7/48 - 1
3-164783172-CTG-ACA c.682_684delinsTGT p.Q228C Missense 7/48 - 1
3-164783172-C-G c.684G>C p.Q228H Missense 7/48 - 1
3-164783173-T-A c.683A>T p.Q228L Missense 7/48 - 1
3-164783173-T-C c.683A>G p.Q228R Missense 7/48 - 1
3-164783173-TG-GC c.682_683delinsGC p.Q228A Missense 7/48 - 2
3-164783175-TA-CC c.680_681delinsGG p.L227W Missense 7/48 - 1
3-164783176-AA-GC c.679_680delinsGC p.L227A Missense 7/48 - 2
3-164783179-TA-GC c.676_677delinsGC p.Y226A Missense 7/48 - 2
3-164783179-T-A c.677A>T p.Y226F Missense 7/48 - 1
3-164783181-CTG-ACA c.673_675delinsTGT p.Q225C Missense 7/48 - 1
3-164783184-G-C c.672C>G p.D224E Missense 7/48 - 1
3-164783184-G-T c.672C>A p.D224E Missense 7/48 - 1
3-164783185-T-C c.671A>G p.D224G Missense 7/48 - 1
3-164783189-A-T c.667T>A p.S223T Missense 7/48 - 2
3-164783189-A-G c.667T>C p.S223P Missense 7/48 - 1
3-164783189-A-C c.667T>G p.S223A Missense 7/48 - 1
3-164783190-GT-CC c.665_666delinsGG p.Y222W Missense 7/48 - 1
3-164783191-TA-GC c.664_665delinsGC p.Y222A Missense 7/48 - 2
3-164783192-A-C c.664T>G p.Y222D Missense 7/48 - 1
3-164783193-CAC-GAT c.661_663delinsATC p.V221I Missense 7/48 - 1
3-164783193-CAC-ACA c.661_663delinsTGT p.V221C Missense 7/48 - 1
3-164783193-CAC-ATA c.661_663delinsTAT p.V221Y Missense 7/48 - 1
3-164783194-A-G c.662T>C p.V221A Missense 7/48 - 3
3-164783195-C-G c.661G>C p.V221L Missense 7/48 - 1
3-164783195-C-A c.661G>T p.V221L Missense 7/48 - 1
3-164783196-TAA-GTC c.658_660delinsGAC p.L220D Missense 7/48 - 1
3-164783198-A-C c.658T>G p.L220V Missense 7/48 - 1
3-164783199-GGG-TTA c.655_657delinsTAA p.P219* Nonsense 7/48 - 1
3-164783200-GG-CC c.655_656inv p.P219G Missense 7/48 - 1
3-164783200-G-C c.656C>G p.P219R Missense 7/48 - 1
3-164783200-GG-CA c.655_656delinsTG p.P219C Missense 7/48 - 1
3-164783201-G-C c.655C>G p.P219A Missense 7/48 - 3
3-164783201-G-T c.655C>A p.P219T Missense 7/48 - 2
3-164783202-AC-CT c.653_654delinsAG p.G218E Missense 7/48 - 2
3-164783202-AC-A c.653del p.G218Vfs*3 Frameshift 7/48 - 1
3-164783206-AT-GG c.649_650delinsCC p.I217P Missense 7/48 - 1
3-164783206-AT-CA c.649_650delinsTG p.I217C Missense 7/48 - 4
3-164783208-G-A c.648C>T p.S216= Synonymous 7/48 - 1
3-164783209-CT-AG c.646_647inv p.S216L Missense 7/48 - 2
3-164783209-CT-GC c.646_647delinsGC p.S216A Missense 7/48 - 1
3-164783209-CT-TA c.646_647delinsTA p.S216Y Missense 7/48 - 1
3-164783209-CT-AA c.646_647delinsTT p.S216F Missense 7/48 - 1
3-164783210-T-A c.646A>T p.S216C Missense 7/48 - 2
3-164783212-GT-TA c.643_644delinsTA p.T215Y Missense 7/48 - 16
3-164783212-GT-AA c.643_644delinsTT p.T215F Missense 7/48 - 4
3-164783212-GT-AC c.643_644inv p.T215V Missense 7/48 - 1
3-164783212-GT-CA c.643_644delinsTG p.T215C Missense 7/48 - 1
3-164783214-G-C c.642C>G p.D214E Missense 7/48 - 1
3-164783214-G-T c.642C>A p.D214E Missense 7/48 - 1
3-164783215-T-G c.641A>C p.D214A Missense 7/48 - 5
3-164783215-TC-CA c.640_641delinsTG p.D214C Missense 7/48 - 1
3-164783215-T-C c.641A>G p.D214G Missense 7/48 - 1
3-164783215-TC-CG c.640_641delinsCG p.D214R Missense 7/48 - 2
3-164783216-C-T c.640G>A p.D214N Missense 7/48 - 1
3-164783217-AAA-CTC c.637_639delinsGAG p.F213E Missense 7/48 - 1
3-164783218-A-T c.638T>A p.F213Y Missense 7/48 - 1
3-164783218-AA-CG c.637_638delinsCG p.F213R Missense 7/48 - 1
3-164783218-A-G c.638T>C p.F213S Missense 7/48 - 1
3-164783219-A-G c.637T>C p.F213L Missense 7/48 - 1
3-164783217-A-T c.639T>A p.F213L Missense 7/48 - 1
3-164783217-A-C c.639T>G p.F213L Missense 7/48 - 1
3-164783219-A-T c.637T>A p.F213I Missense 7/48 - 1
3-164785128-AA-TT c.634_635inv p.L212K Missense 6/48 - 1
3-164785131-G-A c.632C>T p.T211I Missense 6/48 - 2
3-164785133-TT-CA c.629_630delinsTG p.K210M Missense 6/48 - 1
3-164785134-TT-GC c.628_629delinsGC p.K210A Missense 6/48 - 1
3-164785134-T-C c.629A>G p.K210R Missense 6/48 - 1
3-164785134-T-A c.629A>T p.K210I Missense 6/48 - 1
3-164785137-C-A c.626G>T p.G209V Missense 6/48 - 2
3-164785137-C-G c.626G>C p.G209A Missense 6/48 - 3
3-164785140-TT-AG c.622_623delinsCT p.N208L Missense 6/48 - 1
3-164785142-GCT-CTC c.619_621delinsGAG p.S207E Missense 6/48 - 1
3-164785143-CT-GC c.619_620delinsGC p.S207A Missense 6/48 - 1
3-164785143-GC-G c.620del p.S207Tfs*14 Frameshift 6/48 - 1
3-164785144-T-A c.619A>T p.S207C Missense 6/48 - 2
3-164785146-T-G c.617A>C p.K206T Missense 6/48 - 1
3-164785146-TT-AG c.616_617delinsCT p.K206L Missense 6/48 - 1
3-164785147-T-C c.616A>G p.K206E Missense 6/48 - 1
3-164785148-CCT-ATA c.613_615delinsTAT p.R205Y Missense 6/48 - 1
3-164785148-CCT-ATG c.613_615delinsCAT p.R205H Missense 6/48 - 1
3-164785149-CT-GC c.613_614delinsGC p.R205A Missense 6/48 - 1
3-164785149-CT-TC c.613_614delinsGA p.R205E Missense 6/48 - 1
3-164785149-C-T c.614G>A p.R205K Missense 6/48 - 1
3-164785151-AAT-CCA c.610_612delinsTGG p.I204W Missense 6/48 - 1
3-164785155-A-G c.608T>C p.V203A Missense 6/48 - 1
3-164785155-A-T c.608T>A p.V203D Missense 6/48 - 1
3-164785156-C-T c.607G>A p.V203I Missense 6/48 - 1
3-164785158-TG-GC c.604_605delinsGC p.Q202A Missense 6/48 - 1
3-164785160-GAT-CCA c.601_603delinsTGG p.I201W Missense 6/48 - 2
3-164785161-AT-CA c.601_602delinsTG p.I201C Missense 6/48 - 3
3-164785163-G-C c.600C>G p.S200R Missense 6/48 - 1
3-164785163-G-T c.600C>A p.S200R Missense 6/48 - 1
3-164785165-T-G c.598A>C p.S200R Missense 6/48 - 1
3-164785164-C-A c.599G>T p.S200I Missense 6/48 - 1
3-164785164-CT-GC c.598_599delinsGC p.S200A Missense 6/48 - 1
3-164785165-T-A c.598A>T p.S200C Missense 6/48 - 1
3-164785168-A-T c.595T>A p.F199I Missense 6/48 - 1
3-164785172-G-T c.591C>A p.N197K Missense 6/48 - 1
3-164785173-TT-GC c.589_590delinsGC p.N197A Missense 6/48 - 1
3-164785180-C-G c.583G>C p.A195P Missense 6/48 - 1
3-164785180-C-T c.583G>A p.A195T Missense 6/48 - 1
3-164785182-AC-CA c.580_581delinsTG p.V194C Missense 6/48 - 1
3-164785182-A-T c.581T>A p.V194D Missense 6/48 - 1
3-164785179-GCAACCTTCACAT-G c.572_583del p.D191_V194del InFrameDeletion 6/48 - 1
3-164785183-C-T c.580G>A p.V194I Missense 6/48 - 1
3-164785185-T-G c.578A>C p.K193T Missense 6/48 - 1
3-164785185-T-C c.578A>G p.K193R Missense 6/48 - 1
3-164785186-T-G c.577A>C p.K193Q Missense 6/48 - 1
3-164785186-T-C c.577A>G p.K193E Missense 6/48 - 1
3-164785187-C-T c.576G>A p.V192= Synonymous 6/48 - 1
3-164785187-C-G c.576G>C p.V192= Synonymous 6/48 - 1
3-164785187-C-A c.576G>T p.V192= Synonymous 6/48 - 1
3-164785188-A-G c.575T>C p.V192A Missense 6/48 - 2
3-164785189-C-A c.574G>T p.V192L Missense 6/48 - 1
3-164785191-TC-CG c.571_572delinsCG p.D191R Missense 6/48 - 1
3-164785191-T-G c.572A>C p.D191A Missense 6/48 - 2
3-164785194-T-A c.569A>T p.Y190F Missense 6/48 - 3
3-164785194-TA-GC c.568_569delinsGC p.Y190A Missense 6/48 - 1
3-164785196-CAA-GTC c.565_567delinsGAC p.L189D Missense 6/48 - 1
3-164785197-AA-CT c.565_566delinsAG p.L189R Missense 6/48 - 1
3-164785197-AA-GG c.565_566delinsCC p.L189P Missense 6/48 - 1
3-164785198-A-T c.565T>A p.L189M Missense 6/48 - 1
3-164785199-CG-GA c.563_564delinsTC p.T188I Missense 6/48 - 1
3-164785199-C-T c.564G>A p.T188= Synonymous 6/48 - 1
3-164785199-C-A c.564G>T p.T188= Synonymous 6/48 - 1
3-164785199-C-G c.564G>C p.T188= Synonymous 6/48 - 1
3-164785200-G-T c.563C>A p.T188K Missense 6/48 - 1
3-164785201-T-C c.562A>G p.T188A Missense 6/48 - 1
3-164785202-A-G c.561T>C p.D187= Synonymous 6/48 - 1
3-164785203-T-G c.560A>C p.D187A Missense 6/48 - 1
3-164785204-C-A c.559G>T p.D187Y Missense 6/48 - 2
3-164785204-C-T c.559G>A p.D187N Missense 6/48 - 4
3-164785205-AG-CC c.557_558delinsGG p.S186W Missense 6/48 - 1
3-164785206-G-C c.557C>G p.S186C Missense 6/48 - 1
3-164785206-GA-TC c.556_557inv p.S186D Missense 6/48 - 1
3-164785206-GA-TT c.556_557delinsAA p.S186N Missense 6/48 - 1
3-164785207-A-C c.556T>G p.S186A Missense 6/48 - 4
3-164785207-A-G c.556T>C p.S186P Missense 6/48 - 2
3-164785209-A-G c.554T>C p.V185A Missense 6/48 - 1
3-164785209-AC-TT c.553_554delinsAA p.V185N Missense 6/48 - 1
3-164785210-C-A c.553G>T p.V185F Missense 6/48 - 1
3-164785211-TG-GT c.551_552delinsAC p.T184N Missense 6/48 - 1
3-164785211-TGT-GTC c.550_552delinsGAC p.T184D Missense 6/48 - 1
3-164785212-G-C c.551C>G p.T184R Missense 6/48 - 1
3-164785213-T-C c.550A>G p.T184A Missense 6/48 - 1
3-164785214-GGG-CCA c.547_549delinsTGG p.P183W Missense 6/48 - 1
3-164785215-G-T c.548C>A p.P183H Missense 6/48 - 1
3-164785217-GTC-G c.545_546del p.G182Afs*5 Frameshift 6/48 - 1
3-164785218-C-G c.545G>C p.G182A Missense 6/48 - 2
3-164785220-AGT-CTC c.541_543delinsGAG p.T181E Missense 6/48 - 1
3-164785221-G-A c.542C>T p.T181I Missense 6/48 - 1
3-164785222-T-C c.541A>G p.T181A Missense 6/48 - 1
3-164785224-AA-GC c.538_539delinsGC p.F180A Missense 6/48 - 1
3-164785225-A-G c.538T>C p.F180L Missense 6/48 - 1
3-164785223-A-T c.540T>A p.F180L Missense 6/48 - 1
3-164785223-A-C c.540T>G p.F180L Missense 6/48 - 1
3-164785226-CTC-ACA c.535_537delinsTGT p.E179C Missense 6/48 - 1
3-164785227-TC-GA c.535_536inv p.E179S Missense 6/48 - 1
3-164785227-T-C c.536A>G p.E179G Missense 6/48 - 1
3-164785228-C-G c.535G>C p.E179Q Missense 6/48 - 1
3-164785229-TT-GC c.533_534delinsGC p.K178S Missense 6/48 - 1
3-164785231-T-C c.532A>G p.K178E Missense 6/48 - 1
3-164785232-TA-GT c.530_531delinsAC p.V177D Missense 6/48 - 1
3-164785232-T-G c.531A>C p.V177= Synonymous 6/48 - 1
3-164785232-T-C c.531A>G p.V177= Synonymous 6/48 - 1
3-164785232-T-A c.531A>T p.V177= Synonymous 6/48 - 1
3-164785233-AC-GT c.529_530inv p.V177T Missense 6/48 - 1
3-164785236-T-C c.527A>G p.Y176C Missense 6/48 - 2
3-164785236-TA-AG c.526_527delinsCT p.Y176L Missense 6/48 - 1
3-164785236-T-A c.527A>T p.Y176F Missense 6/48 - 2
3-164785236-TA-AC c.526_527delinsGT p.Y176V Missense 6/48 - 1
3-164785237-A-G c.526T>C p.Y176H Missense 6/48 - 3
3-164785239-TG-GA c.523_524delinsTC p.Q175S Missense 6/48 - 1
3-164785242-TG-GC c.520_521delinsGC p.H174A Missense 6/48 - 1
3-164785246-G-C c.517C>G p.P173A Missense 6/48 - 2
3-164785247-A-C c.516T>G p.V172= Synonymous 6/48 - 2
3-164785247-A-T c.516T>A p.V172= Synonymous 6/48 - 1
3-164785247-A-G c.516T>C p.V172= Synonymous 6/48 - 1
3-164785249-C-G c.514G>C p.V172L Missense 6/48 - 1
3-164785250-T-G c.513A>C p.E171D Missense 6/48 - 1
3-164785250-T-A c.513A>T p.E171D Missense 6/48 - 1
3-164785250-TTC-ACA c.511_513delinsTGT p.E171C Missense 6/48 - 2
3-164785251-TC-GA c.511_512inv p.E171S Missense 6/48 - 1
3-164785251-T-G c.512A>C p.E171A Missense 6/48 - 2
3-164785252-C-G c.511G>C p.E171Q Missense 6/48 - 1
3-164785252-C-A c.511G>T p.E171* Nonsense 6/48 - 1
3-164785254-T-C c.509A>G p.Y170C Missense 6/48 - 1
3-164785254-T-A c.509A>T p.Y170F Missense 6/48 - 1
3-164785256-TCT-ACA c.505_507delinsTGT p.R169C Missense 6/48 - 5
3-164785257-CT-GC c.505_506delinsGC p.R169A Missense 6/48 - 4
3-164785257-CT-TG c.505_506delinsCA p.R169Q Missense 6/48 - 1
3-164785257-CT-TC c.505_506delinsGA p.R169E Missense 6/48 - 2
3-164785257-C-T c.506G>A p.R169K Missense 6/48 - 1
3-164785258-T-C c.505A>G p.R169G Missense 6/48 - 1
3-164785260-CT-GC c.502_503delinsGC p.R168A Missense 6/48 - 1
3-164785261-T-A c.502A>T p.R168* Nonsense 6/48 - 2
3-164785262-A-C c.501T>G p.N167K Missense 6/48 - 1
3-164785262-A-T c.501T>A p.N167K Missense 6/48 - 1
3-164785263-TT-GC c.499_500delinsGC p.N167A Missense 6/48 - 3
3-164785266-TT-GC c.496_497delinsGC p.N166A Missense 6/48 - 1
3-164785266-T-G c.497A>C p.N166T Missense 6/48 - 1
3-164785267-T-C c.496A>G p.N166D Missense 6/48 - 2
3-164785267-T-G c.496A>C p.N166H Missense 6/48 - 1
3-164785269-G-C c.494C>G p.P165R Missense 6/48 - 1
3-164785270-G-A c.493C>T p.P165S Missense 6/48 - 1
3-164785271-ATC-CAT c.490_492delinsATG p.D164M Missense 6/48 - 1
3-164785272-T-G c.491A>C p.D164A Missense 6/48 - 2
3-164785273-C-T c.490G>A p.D164N Missense 6/48 - 2
3-164785275-GT-CA c.487_488delinsTG p.T163C Missense 6/48 - 3
3-164785276-T-C c.487A>G p.T163A Missense 6/48 - 1
3-164785276-T-G c.487A>C p.T163P Missense 6/48 - 1
3-164785278-AT-CA c.484_485delinsTG p.I162C Missense 6/48 - 2
3-164785279-T-C c.484A>G p.I162V Missense 6/48 - 1
3-164785338-G-A c.484-59C>T - IntronicSNV - 5/47 1
3-164786382-C-A c.483+128G>T - IntronicSNV - 5/47 1
3-164786396-T-C c.483+114A>G - IntronicSNV - 5/47 1
3-164786413-A-G c.483+97T>C - IntronicSNV - 5/47 1
3-164786510-C-T c.483G>A p.K161= Synonymous 5/48 - 1
3-164786511-TT-GC c.481_482delinsGC p.K161A Missense 5/48 - 2
3-164786511-T-C c.482A>G p.K161R Missense 5/48 - 2
3-164786514-AA-GC c.478_479delinsGC p.F160A Missense 5/48 - 1
3-164786514-A-C c.479T>G p.F160C Missense 5/48 - 1
3-164786515-A-G c.478T>C p.F160L Missense 5/48 - 2
3-164786513-G-T c.480C>A p.F160L Missense 5/48 - 2
3-164786513-G-C c.480C>G p.F160L Missense 5/48 - 2
3-164786515-A-T c.478T>A p.F160I Missense 5/48 - 1
3-164786517-CG-GC c.475_476delinsGC p.R159A Missense 5/48 - 5
3-164786517-CG-AC c.475_476delinsGT p.R159V Missense 5/48 - 1
3-164786518-G-A c.475C>T p.R159W Missense 5/48 - 1
3-164786520-AA-GC c.472_473delinsGC p.F158A Missense 5/48 - 1
3-164786521-A-C c.472T>G p.F158V Missense 5/48 - 1
3-164786522-ACG-CTC c.469_471delinsGAG p.R157E Missense 5/48 - 4
3-164786522-AC-TT c.470_471delinsAA p.R157Q Missense 5/48 - 1
3-164786523-CG-GC c.469_470delinsGC p.R157A Missense 5/48 - 4
3-164786523-CG-AC c.469_470delinsGT p.R157V Missense 5/48 - 1
3-164786523-CG-TA c.469_470delinsTA p.R157Y Missense 5/48 - 1
3-164786524-G-A c.469C>T p.R157C Missense 5/48 - 1
3-164786526-TT-GC c.466_467delinsGC p.N156A Missense 5/48 - 1
3-164786528-G-T c.465C>A p.P155= Synonymous 5/48 - 1
3-164786531-TG-CA c.461_462inv p.T154M Missense 5/48 - 1
3-164786533-T-C c.460A>G p.T154A Missense 5/48 - 2
3-164786536-G-C c.457C>G p.Q153E Missense 5/48 - 1
3-164786537-A-C c.456T>G p.N152K Missense 5/48 - 1
3-164786537-A-T c.456T>A p.N152K Missense 5/48 - 1
3-164786539-T-C c.454A>G p.N152D Missense 5/48 - 1
3-164786540-TTG-CAT c.451_453delinsATG p.Q151M Missense 5/48 - 4
3-164786542-G-A c.451C>T p.Q151* Nonsense 5/48 - 2
3-164786542-G-C c.451C>G p.Q151E Missense 5/48 - 1
3-164786544-GT-TG c.448_449delinsCA p.T150H Missense 5/48 - 1
3-164786544-GT-TC c.448_449delinsGA p.T150D Missense 5/48 - 1
3-164786545-T-C c.448A>G p.T150A Missense 5/48 - 1
3-164786546-TGT-ACA c.445_447inv p.T149C Missense 5/48 - 1
3-164786547-G-T c.446C>A p.T149K Missense 5/48 - 1
3-164786548-T-G c.445A>C p.T149P Missense 5/48 - 1
3-164786550-A-T c.443T>A p.F148Y Missense 5/48 - 1
3-164786553-AG-CT c.439_440inv p.L147S Missense 5/48 - 1
3-164786553-AG-TC c.439_440delinsGA p.L147D Missense 5/48 - 2
3-164786553-A-G c.440T>C p.L147P Missense 5/48 - 1
3-164786553-AG-GT c.439_440delinsAC p.L147T Missense 5/48 - 1
3-164786554-G-A c.439C>T p.L147F Missense 5/48 - 1
3-164786555-A-T c.438T>A p.V146= Synonymous 5/48 - 1
3-164786555-A-G c.438T>C p.V146= Synonymous 5/48 - 1
3-164786555-A-C c.438T>G p.V146= Synonymous 5/48 - 1
3-164786557-C-G c.436G>C p.V146L Missense 5/48 - 1
3-164786558-AC-CT c.434_435delinsAG p.S145K Missense 5/48 - 1
3-164786559-CT-TC c.433_434delinsGA p.S145D Missense 5/48 - 1
3-164786559-CT-GC c.433_434delinsGC p.S145A Missense 5/48 - 3
3-164786559-C-T c.434G>A p.S145N Missense 5/48 - 1
3-164786560-T-A c.433A>T p.S145C Missense 5/48 - 1
3-164786560-T-C c.433A>G p.S145G Missense 5/48 - 1
3-164786561-G-C c.432C>G p.N144K Missense 5/48 - 1
3-164786561-G-T c.432C>A p.N144K Missense 5/48 - 1
3-164786563-T-C c.430A>G p.N144D Missense 5/48 - 1
3-164786565-AT-CA c.427_428delinsTG p.I143C Missense 5/48 - 1
3-164786565-AT-GC c.427_428delinsGC p.I143A Missense 5/48 - 1
3-164786565-A-T c.428T>A p.I143N Missense 5/48 - 1
3-164786565-A-G c.428T>C p.I143T Missense 5/48 - 2
3-164786565-A-C c.428T>G p.I143S Missense 5/48 - 1
3-164786566-T-G c.427A>C p.I143L Missense 5/48 - 1
3-164786566-T-C c.427A>G p.I143V Missense 5/48 - 1
3-164786567-G-C c.426C>G p.D142E Missense 5/48 - 1
3-164786567-G-T c.426C>A p.D142E Missense 5/48 - 1
3-164786568-TC-CA c.424_425delinsTG p.D142C Missense 5/48 - 2
3-164786568-T-G c.425A>C p.D142A Missense 5/48 - 3
3-164786570-ATT-CCA c.421_423delinsTGG p.N141W Missense 5/48 - 1
3-164786573-TCC-CAT c.418_420delinsATG p.G140M Missense 5/48 - 1
3-164786573-TCC-GCT c.418_420delinsAGC p.G140S Missense 5/48 - 11
3-164786573-TCC-ATA c.418_420delinsTAT p.G140Y Missense 5/48 - 1
3-164786573-TCC-ACA c.418_420delinsTGT p.G140C Missense 5/48 - 1
3-164786574-C-G c.419G>C p.G140A Missense 5/48 - 2
3-164786574-CC-AG c.418_419delinsCT p.G140L Missense 5/48 - 1
3-164786577-AA-GC c.415_416delinsGC p.F139A Missense 5/48 - 1
3-164786577-A-T c.416T>A p.F139Y Missense 5/48 - 1
3-164786578-A-G c.415T>C p.F139L Missense 5/48 - 1
3-164786576-A-T c.417T>A p.F139L Missense 5/48 - 1
3-164786576-A-C c.417T>G p.F139L Missense 5/48 - 1
3-164786579-TAG-AAA c.412_414delinsTTT p.L138F Missense 5/48 - 1
3-164786579-TAG-CAT c.412_414delinsATG p.L138M Missense 5/48 - 1
3-164786580-A-T c.413T>A p.L138Q Missense 5/48 - 1
3-164786582-TGT-ACA c.409_411inv p.T137C Missense 5/48 - 1
3-164786584-T-C c.409A>G p.T137A Missense 5/48 - 3
3-164786587-G-A c.406C>T p.P136S Missense 5/48 - 1
3-164786590-A-C c.403T>G p.S135A Missense 5/48 - 2
3-164786592-GG-AC c.400_401delinsGT p.P134V Missense 5/48 - 1
3-164786592-GG-CA c.400_401delinsTG p.P134C Missense 5/48 - 1
3-164786594-TA-GC c.398_399delinsGC p.I133S Missense 5/48 - 1
3-164786594-TAT-ACA c.397_399delinsTGT p.I133C Missense 5/48 - 1
3-164786595-AT-GC c.397_398delinsGC p.I133A Missense 5/48 - 2
3-164786596-T-G c.397A>C p.I133L Missense 5/48 - 1
3-164786596-T-A c.397A>T p.I133L Missense 5/48 - 1
3-164786596-T-C c.397A>G p.I133V Missense 5/48 - 1
3-164786597-CCT-ATG c.394_396delinsCAT p.R132H Missense 5/48 - 3
3-164786597-CCT-ATA c.394_396delinsTAT p.R132Y Missense 5/48 - 1
3-164786597-CC-GT c.395_396delinsAC p.R132N Missense 5/48 - 1
3-164786597-CCT-ACA c.394_396delinsTGT p.R132C Missense 5/48 - 1
3-164786598-CT-TG c.394_395delinsCA p.R132Q Missense 5/48 - 3
3-164786598-CT-GC c.394_395delinsGC p.R132A Missense 5/48 - 4
3-164786598-C-T c.395G>A p.R132K Missense 5/48 - 5
3-164786598-CT-AG c.394_395inv p.R132L Missense 5/48 - 3
3-164786598-C-A c.395G>T p.R132M Missense 5/48 - 1
3-164786599-T-C c.394A>G p.R132G Missense 5/48 - 1
3-164786601-TT-GC c.391_392delinsGC p.N131A Missense 5/48 - 1
3-164786602-T-C c.391A>G p.N131D Missense 5/48 - 1
3-164786603-TA-CC c.389_390delinsGG p.L130W Missense 5/48 - 3
3-164786603-TA-AC c.389_390delinsGT p.L130C Missense 5/48 - 1
3-164786603-TAA-GTC c.388_390delinsGAC p.L130D Missense 5/48 - 2
3-164786604-A-G c.389T>C p.L130S Missense 5/48 - 2
3-164786604-AA-TC c.388_389delinsGA p.L130E Missense 5/48 - 2
3-164786604-AA-CC c.388_389delinsGG p.L130G Missense 5/48 - 1
3-164786604-AA-GC c.388_389delinsGC p.L130A Missense 5/48 - 1
3-164786604-A-T c.389T>A p.L130* Nonsense 5/48 - 1
3-164786604-A-C c.389T>G p.L130* Nonsense 5/48 - 1
3-164786604-AA-GG c.388_389delinsCC p.L130P Missense 5/48 - 1
3-164786604-AA-TT c.388_389inv p.L130K Missense 5/48 - 1
3-164786606-TTT-GTC c.385_387delinsGAC p.K129D Missense 5/48 - 1
3-164786606-TTT-ACA c.385_387delinsTGT p.K129C Missense 5/48 - 1
3-164786607-TT-GC c.385_386delinsGC p.K129A Missense 5/48 - 1
3-164786608-T-C c.385A>G p.K129E Missense 5/48 - 1
3-164786608-T-A c.385A>T p.K129* Nonsense 5/48 - 1
3-164786610-G-A c.383C>T p.A128V Missense 5/48 - 1
3-164786610-GC-AG c.382_383delinsCT p.A128L Missense 5/48 - 1
3-164786610-GC-CA c.382_383delinsTG p.A128C Missense 5/48 - 3
3-164786610-G-C c.383C>G p.A128G Missense 5/48 - 1
3-164786610-GC-TT c.382_383delinsAA p.A128N Missense 5/48 - 1
3-164786611-C-A c.382G>T p.A128S Missense 5/48 - 1
3-164786611-C-T c.382G>A p.A128T Missense 5/48 - 1
3-164786612-TTC-ACA c.379_381delinsTGT p.E127C Missense 5/48 - 1
3-164786613-T-G c.380A>C p.E127A Missense 5/48 - 3
3-164786613-TC-CT c.379_380delinsAG p.E127R Missense 5/48 - 1
3-164786614-C-G c.379G>C p.E127Q Missense 5/48 - 1
3-164786614-TC-T c.379del p.E127Kfs*4 Frameshift 5/48 - 1
3-164786615-A-T c.378T>A p.V126= Synonymous 5/48 - 1
3-164786615-A-G c.378T>C p.V126= Synonymous 5/48 - 1
3-164786615-A-C c.378T>G p.V126= Synonymous 5/48 - 1
3-164786616-A-G c.377T>C p.V126A Missense 5/48 - 1
3-164786617-C-G c.376G>C p.V126L Missense 5/48 - 1
3-164786618-TC-GT c.374_375delinsAC p.G125D Missense 5/48 - 1
3-164786619-C-G c.374G>C p.G125A Missense 5/48 - 1
3-164786868-AT-GC c.370_371delinsGC p.I124A Missense 4/48 - 1
3-164786869-T-G c.370A>C p.I124L Missense 4/48 - 1
3-164786870-A-T c.369T>A p.S123R Missense 4/48 - 1
3-164786870-ACT-CTC c.367_369delinsGAG p.S123E Missense 4/48 - 1
3-164786871-CT-GC c.367_368delinsGC p.S123A Missense 4/48 - 3
3-164786871-C-T c.368G>A p.S123N Missense 4/48 - 1
3-164786872-T-C c.367A>G p.S123G Missense 4/48 - 1
3-164786873-TG-GT c.365_366delinsAC p.T122N Missense 4/48 - 1
3-164786871-CT-C c.367del p.S123Vfs*8 Frameshift 4/48 - 1
3-164786873-TGT-ATG c.364_366delinsCAT p.T122H Missense 4/48 - 1
3-164786874-G-C c.365C>G p.T122R Missense 4/48 - 1
3-164786877-G-A c.362C>T p.T121I Missense 4/48 - 1
3-164786878-T-C c.361A>G p.T121A Missense 4/48 - 1
3-164786879-TG-CA c.359_360inv p.T120M Missense 4/48 - 1
3-164786879-TGT-ATG c.358_360delinsCAT p.T120H Missense 4/48 - 1
3-164786880-G-A c.359C>T p.T120I Missense 4/48 - 2
3-164786881-T-C c.358A>G p.T120A Missense 4/48 - 1
3-164786882-CA-GC c.356_357delinsGC p.M119S Missense 4/48 - 1
3-164786883-AT-GC c.355_356delinsGC p.M119A Missense 4/48 - 1
3-164786888-TTG-CAT c.349_351delinsATG p.Q117M Missense 4/48 - 1
3-164786889-T-A c.350A>T p.Q117L Missense 4/48 - 2
3-164786889-TG-GC c.349_350delinsGC p.Q117A Missense 4/48 - 1
3-164786889-T-C c.350A>G p.Q117R Missense 4/48 - 4
3-164786889-TG-GA c.349_350delinsTC p.Q117S Missense 4/48 - 1
3-164786890-G-T c.349C>A p.Q117K Missense 4/48 - 1
3-164786891-A-T c.348T>A p.V116= Synonymous 4/48 - 1
3-164786891-A-G c.348T>C p.V116= Synonymous 4/48 - 1
3-164786891-A-C c.348T>G p.V116= Synonymous 4/48 - 1
3-164786892-AC-GT c.346_347inv p.V116T Missense 4/48 - 1
3-164786892-A-G c.347T>C p.V116A Missense 4/48 - 2
3-164786892-A-T c.347T>A p.V116D Missense 4/48 - 1
3-164786892-AC-CA c.346_347delinsTG p.V116C Missense 4/48 - 1
3-164786893-C-A c.346G>T p.V116F Missense 4/48 - 1
3-164786894-GTT-TTG c.343_345delinsCAA p.N115Q Missense 4/48 - 1
3-164786898-TA-GC c.340_341delinsGC p.Y114A Missense 4/48 - 6
3-164786898-T-C c.341A>G p.Y114C Missense 4/48 - 2
3-164786898-TA-CG c.340_341delinsCG p.Y114R Missense 4/48 - 1
3-164786898-T-A c.341A>T p.Y114F Missense 4/48 - 2
3-164786899-A-T c.340T>A p.Y114N Missense 4/48 - 1
3-164786900-ACC-CCA c.337_339delinsTGG p.G113W Missense 4/48 - 1
3-164786901-CC-GT c.337_338delinsAC p.G113T Missense 4/48 - 1
3-164786901-C-G c.338G>C p.G113A Missense 4/48 - 2
3-164786902-C-A c.337G>T p.G113C Missense 4/48 - 2
3-164786902-C-G c.337G>C p.G113R Missense 4/48 - 1
3-164786904-T-A c.335A>T p.H112L Missense 4/48 - 1
3-164786904-TG-GC c.334_335delinsGC p.H112A Missense 4/48 - 1
3-164786904-TG-CT c.334_335delinsAG p.H112S Missense 4/48 - 1
3-164786905-G-T c.334C>A p.H112N Missense 4/48 - 1
3-164786906-A-C c.333T>G p.N111K Missense 4/48 - 1
3-164786907-T-C c.332A>G p.N111S Missense 4/48 - 2
3-164786907-TT-GC c.331_332delinsGC p.N111A Missense 4/48 - 2
3-164786907-TT-CC c.331_332delinsGG p.N111G Missense 4/48 - 1
3-164786910-T-C c.329A>G p.D110G Missense 4/48 - 2
3-164786910-TC-CA c.328_329delinsTG p.D110C Missense 4/48 - 1
3-164786910-T-G c.329A>C p.D110A Missense 4/48 - 1
3-164786911-C-T c.328G>A p.D110N Missense 4/48 - 1
3-164786912-AA-CT c.326_327delinsAG p.V109E Missense 4/48 - 2
3-164786912-A-T c.327T>A p.V109= Synonymous 4/48 - 1
3-164786912-A-G c.327T>C p.V109= Synonymous 4/48 - 1
3-164786912-A-C c.327T>G p.V109= Synonymous 4/48 - 1
3-164786913-AC-TG c.325_326delinsCA p.V109H Missense 4/48 - 1
3-164786913-AC-CA c.325_326delinsTG p.V109C Missense 4/48 - 3
3-164786913-A-G c.326T>C p.V109A Missense 4/48 - 2
3-164786913-A-T c.326T>A p.V109D Missense 4/48 - 1
3-164786913-AC-GT c.325_326inv p.V109T Missense 4/48 - 1
3-164786915-G-A c.324C>T p.F108= Synonymous 4/48 - 1
3-164786916-A-T c.323T>A p.F108Y Missense 4/48 - 1
3-164786917-A-C c.322T>G p.F108V Missense 4/48 - 1
3-164786917-A-G c.322T>C p.F108L Missense 4/48 - 1
3-164786915-G-T c.324C>A p.F108L Missense 4/48 - 1
3-164786915-G-C c.324C>G p.F108L Missense 4/48 - 1
3-164786918-GA-CC c.320_321delinsGG p.F107W Missense 4/48 - 1
3-164786918-GA-TT c.320_321delinsAA p.F107* Nonsense 4/48 - 1
3-164786919-AA-GC c.319_320delinsGC p.F107A Missense 4/48 - 1
3-164786920-A-C c.319T>G p.F107V Missense 4/48 - 1
3-164786922-CA-GC c.316_317delinsGC p.C106A Missense 4/48 - 1
3-164786922-C-T c.317G>A p.C106Y Missense 4/48 - 1
3-164786923-A-T c.316T>A p.C106S Missense 4/48 - 2
3-164786922-C-G c.317G>C p.C106S Missense 4/48 - 2
3-164786923-A-G c.316T>C p.C106R Missense 4/48 - 1
3-164786924-CC-AA c.314_315delinsTT p.W105F Missense 4/48 - 1
3-164786924-C-A c.315G>T p.W105C Missense 4/48 - 3
3-164786924-C-G c.315G>C p.W105C Missense 4/48 - 1
3-164786929-G-A c.310C>T p.P104S Missense 4/48 - 1
3-164786933-AAG-CCA c.304_306delinsTGG p.L102W Missense 4/48 - 1
3-164786934-AG-GC c.304_305delinsGC p.L102A Missense 4/48 - 2
3-164786936-A-C c.303T>G p.S101= Synonymous 4/48 - 1
3-164786936-A-G c.303T>C p.S101= Synonymous 4/48 - 1
3-164786936-A-T c.303T>A p.S101= Synonymous 4/48 - 1
3-164786936-AGA-CTC c.301_303delinsGAG p.S101E Missense 4/48 - 1
3-164786937-G-A c.302C>T p.S101F Missense 4/48 - 1
3-164786938-A-C c.301T>G p.S101A Missense 4/48 - 3
3-164786939-G-C c.300C>G p.D100E Missense 4/48 - 1
3-164786939-G-T c.300C>A p.D100E Missense 4/48 - 1
3-164786939-G-A c.300C>T p.D100= Synonymous 4/48 - 1
3-164786939-AG-A c.300del p.S101Lfs*19 Frameshift 4/48 - 1
3-164786940-TC-CT c.298_299delinsAG p.D100S Missense 4/48 - 1
3-164786940-T-C c.299A>G p.D100G Missense 4/48 - 3
3-164786940-T-G c.299A>C p.D100A Missense 4/48 - 4
3-164786940-TC-AT c.298_299delinsAT p.D100I Missense 4/48 - 1
3-164786941-C-T c.298G>A p.D100N Missense 4/48 - 3
3-164786943-TT-GC c.295_296delinsGC p.N99A Missense 4/48 - 2
3-164786943-T-C c.296A>G p.N99S Missense 4/48 - 1
3-164786944-T-G c.295A>C p.N99H Missense 4/48 - 1
3-164786946-CA-GC c.292_293delinsGC p.W98A Missense 4/48 - 2
3-164786947-A-C c.292T>G p.W98G Missense 4/48 - 1
3-164786948-C-T c.291G>A p.P97= Synonymous 4/48 - 1
3-164786949-GG-TA c.289_290delinsTA p.P97* Nonsense 4/48 - 1
3-164786950-G-A c.289C>T p.P97S Missense 4/48 - 1
3-164786950-G-C c.289C>G p.P97A Missense 4/48 - 1
3-164786952-CT-GC c.286_287delinsGC p.R96A Missense 4/48 - 5
3-164786952-CT-TG c.286_287delinsCA p.R96Q Missense 4/48 - 1
3-164786952-C-T c.287G>A p.R96K Missense 4/48 - 2
3-164786952-CT-TC c.286_287delinsGA p.R96E Missense 4/48 - 1
3-164786953-T-C c.286A>G p.R96G Missense 4/48 - 1
3-164786954-C-A c.285G>T p.W95C Missense 4/48 - 1
3-164786954-C-G c.285G>C p.W95C Missense 4/48 - 1
3-164786957-G-T c.282C>A p.C94* Nonsense 4/48 - 1
3-164786957-G-A c.282C>T p.C94= Synonymous 4/48 - 1
3-164786958-C-T c.281G>A p.C94Y Missense 4/48 - 1
3-164786958-CA-GC c.280_281delinsGC p.C94A Missense 4/48 - 2
3-164786958-C-A c.281G>T p.C94F Missense 4/48 - 3
3-164786959-A-C c.280T>G p.C94G Missense 4/48 - 2
3-164786959-A-T c.280T>A p.C94S Missense 4/48 - 2
3-164786958-C-G c.281G>C p.C94S Missense 4/48 - 2
3-164786960-G-T c.279C>A p.C93* Nonsense 4/48 - 2
3-164786960-GCA-CTT c.277_279delinsAAG p.C93K Missense 4/48 - 1
3-164786961-CA-GC c.277_278delinsGC p.C93A Missense 4/48 - 6
3-164786962-A-T c.277T>A p.C93S Missense 4/48 - 2
3-164786961-C-G c.278G>C p.C93S Missense 4/48 - 2
3-164786962-A-C c.277T>G p.C93G Missense 4/48 - 1
3-164786964-C-G c.275G>C p.G92A Missense 4/48 - 2
3-164786964-C-T c.275G>A p.G92D Missense 4/48 - 3
3-164786965-C-T c.274G>A p.G92S Missense 4/48 - 1
3-164786966-TCT-ACA c.271_273delinsTGT p.R91C Missense 4/48 - 3
3-164786966-TCT-GTC c.271_273delinsGAC p.R91D Missense 4/48 - 2
3-164786966-TCT-CCA c.271_273delinsTGG p.R91W Missense 4/48 - 4
3-164786966-T-G c.273A>C p.R91S Missense 4/48 - 1
3-164786966-T-A c.273A>T p.R91S Missense 4/48 - 1
3-164786966-TCT-ATG c.271_273delinsCAT p.R91H Missense 4/48 - 1
3-164786967-CT-GC c.271_272delinsGC p.R91A Missense 4/48 - 5
3-164786967-CT-AG c.271_272inv p.R91L Missense 4/48 - 1
3-164786967-C-T c.272G>A p.R91K Missense 4/48 - 2
3-164786967-CT-TG c.271_272delinsCA p.R91Q Missense 4/48 - 1
3-164786968-T-C c.271A>G p.R91G Missense 4/48 - 2
3-164786964-CCT-C c.273_274del p.G92Lfs*8 Frameshift 4/48 - 5
3-164786969-CTG-GAT c.268_270delinsATC p.Q90I Missense 4/48 - 1
3-164786969-CTG-AAA c.268_270delinsTTT p.Q90F Missense 4/48 - 1
3-164786969-CTG-GTC c.268_270delinsGAC p.Q90D Missense 4/48 - 2
3-164786970-TG-GC c.268_269delinsGC p.Q90A Missense 4/48 - 2
3-164786970-T-A c.269A>T p.Q90L Missense 4/48 - 1
3-164786970-TG-AT c.268_269delinsAT p.Q90M Missense 4/48 - 1
3-164786970-TG-GA c.268_269delinsTC p.Q90S Missense 4/48 - 1
3-164786970-T-G c.269A>C p.Q90P Missense 4/48 - 1
3-164786971-G-A c.268C>T p.Q90* Nonsense 4/48 - 1
3-164786972-TG-GT c.266_267delinsAC p.A89D Missense 4/48 - 3
3-164786972-T-G c.267A>C p.A89= Synonymous 4/48 - 5
3-164786972-T-C c.267A>G p.A89= Synonymous 4/48 - 5
3-164786972-T-A c.267A>T p.A89= Synonymous 4/48 - 5
3-164786972-TGC-ACA c.265_267delinsTGT p.A89C Missense 4/48 - 4
3-164786972-TGC-AAA c.265_267delinsTTT p.A89F Missense 4/48 - 5
3-164786973-G-T c.266C>A p.A89E Missense 4/48 - 6
3-164786973-GC-TT c.265_266delinsAA p.A89K Missense 4/48 - 2
3-164786973-GC-AT c.265_266delinsAT p.A89I Missense 4/48 - 1
3-164786973-G-A c.266C>T p.A89V Missense 4/48 - 1
3-164786974-C-G c.265G>C p.A89P Missense 4/48 - 1
3-164786974-C-T c.265G>A p.A89T Missense 4/48 - 1
3-164786975-A-G c.264T>C p.C88= Synonymous 4/48 - 1
3-164786975-ACA-CTT c.262_264delinsAAG p.C88K Missense 4/48 - 1
3-164786976-CA-GC c.262_263delinsGC p.C88A Missense 4/48 - 3
3-164786976-CA-TC c.262_263delinsGA p.C88D Missense 4/48 - 2
3-164786976-C-A c.263G>T p.C88F Missense 4/48 - 2
3-164786976-CA-TG c.262_263inv p.C88H Missense 4/48 - 1
3-164786976-CA-GT c.262_263delinsAC p.C88T Missense 4/48 - 1
3-164786977-A-T c.262T>A p.C88S Missense 4/48 - 3
3-164786976-C-G c.263G>C p.C88S Missense 4/48 - 3
3-164786977-A-C c.262T>G p.C88G Missense 4/48 - 1
3-164786979-AT-GC c.259_260delinsGC p.I87A Missense 4/48 - 1
3-164786979-A-G c.260T>C p.I87T Missense 4/48 - 1
3-164786980-T-C c.259A>G p.I87V Missense 4/48 - 2
3-164786981-TCC-ACA c.256_258delinsTGT p.G86C Missense 4/48 - 1
3-164786981-TCC-GCT c.256_258delinsAGC p.G86S Missense 4/48 - 1
3-164786982-C-A c.257G>T p.G86V Missense 4/48 - 1
3-164786982-C-G c.257G>C p.G86A Missense 4/48 - 2
3-164786983-C-T c.256G>A p.G86R Missense 4/48 - 1
3-164786983-C-G c.256G>C p.G86R Missense 4/48 - 1
3-164792319-C-G c.255G>C p.E85D Missense 3/48 - 3
3-164792319-C-A c.255G>T p.E85D Missense 3/48 - 3
3-164792319-CTC-AAA c.253_255delinsTTT p.E85F Missense 3/48 - 2
3-164792320-T-G c.254A>C p.E85A Missense 3/48 - 5
3-164792320-T-C c.254A>G p.E85G Missense 3/48 - 1
3-164792321-C-T c.253G>A p.E85K Missense 3/48 - 4
3-164792322-TG-GT c.251_252delinsAC p.T84N Missense 3/48 - 2
3-164792322-TGT-ACA c.250_252inv p.T84C Missense 3/48 - 1
3-164792323-TG-T c.251del p.T84Kfs*36 Frameshift 3/48 - 1
3-164792323-GT-AC c.250_251inv p.T84V Missense 3/48 - 1
3-164792324-T-C c.250A>G p.T84A Missense 3/48 - 1
3-164792326-G-A c.248C>T p.P83L Missense 3/48 - 2
3-164792327-G-A c.247C>T p.P83S Missense 3/48 - 1
3-164792328-G-A c.246C>T p.F82= Synonymous 3/48 - 1
3-164792329-AA-GC c.244_245delinsGC p.F82A Missense 3/48 - 2
3-164792329-A-C c.245T>G p.F82C Missense 3/48 - 1
3-164792329-AA-CC c.244_245delinsGG p.F82G Missense 3/48 - 1
3-164792330-A-T c.244T>A p.F82I Missense 3/48 - 1
3-164792331-TTG-ACA c.241_243delinsTGT p.Q81C Missense 3/48 - 1
3-164792332-TG-AT c.241_242delinsAT p.Q81I Missense 3/48 - 1
3-164792332-T-A c.242A>T p.Q81L Missense 3/48 - 2
3-164792334-T-G c.240A>C p.E80D Missense 3/48 - 1
3-164792334-T-A c.240A>T p.E80D Missense 3/48 - 1
3-164792334-TTC-ACA c.238_240delinsTGT p.E80C Missense 3/48 - 1
3-164792335-TC-GA c.238_239inv p.E80S Missense 3/48 - 1
3-164792335-TC-AT c.238_239delinsAT p.E80I Missense 3/48 - 1
3-164792335-T-G c.239A>C p.E80A Missense 3/48 - 4
3-164792333-GTTCTGGAATGCAGTTTATTCTCACA-G c.216_240del p.V73Nfs*39 Frameshift 3/48 - 1
3-164792339-G-A c.235C>T p.P79S Missense 3/48 - 2
3-164792343-G-C c.231C>G p.C77W Missense 3/48 - 1
3-164792343-GCA-CTC c.229_231delinsGAG p.C77E Missense 3/48 - 1
3-164792344-CA-GC c.229_230delinsGC p.C77A Missense 3/48 - 5
3-164792344-CA-AC c.229_230delinsGT p.C77V Missense 3/48 - 2
3-164792344-CA-GT c.229_230delinsAC p.C77T Missense 3/48 - 1
3-164792344-C-T c.230G>A p.C77Y Missense 3/48 - 1
3-164792345-A-C c.229T>G p.C77G Missense 3/48 - 2
3-164792345-A-T c.229T>A p.C77S Missense 3/48 - 3
3-164792344-C-G c.230G>C p.C77S Missense 3/48 - 3
3-164792347-TT-GC c.226_227delinsGC p.N76A Missense 3/48 - 1
3-164792348-T-A c.226A>T p.N76Y Missense 3/48 - 1
3-164792350-AT-CC c.223_224delinsGG p.I75G Missense 3/48 - 1
3-164792350-AT-GC c.223_224delinsGC p.I75A Missense 3/48 - 2
3-164792351-T-G c.223A>C p.I75L Missense 3/48 - 1
3-164792351-T-A c.223A>T p.I75L Missense 3/48 - 1
3-164792352-TCT-ACA c.220_222delinsTGT p.R74C Missense 3/48 - 1
3-164792353-CT-GC c.220_221delinsGC p.R74A Missense 3/48 - 7
3-164792353-CT-TC c.220_221delinsGA p.R74E Missense 3/48 - 1
3-164792353-CT-GG c.220_221delinsCC p.R74P Missense 3/48 - 3
3-164792353-C-T c.221G>A p.R74K Missense 3/48 - 1
3-164792354-T-C c.220A>G p.R74G Missense 3/48 - 1
3-164792355-CA-GT c.218_219delinsAC p.V73D Missense 3/48 - 1
3-164792355-C-T c.219G>A p.V73= Synonymous 3/48 - 1
3-164792355-C-G c.219G>C p.V73= Synonymous 3/48 - 1
3-164792355-C-A c.219G>T p.V73= Synonymous 3/48 - 1
3-164792355-CAC-GAT c.217_219delinsATC p.V73I Missense 3/48 - 1
3-164792357-C-T c.217G>A p.V73M Missense 3/48 - 1
3-164792359-TT-GC c.214_215delinsGC p.N72A Missense 3/48 - 1
3-164792360-T-C c.214A>G p.N72D Missense 3/48 - 1
3-164792361-GAC-CAT c.211_213delinsATG p.V71M Missense 3/48 - 1
3-164792361-G-T c.213C>A p.V71= Synonymous 3/48 - 1
3-164792361-G-C c.213C>G p.V71= Synonymous 3/48 - 1
3-164792361-G-A c.213C>T p.V71= Synonymous 3/48 - 1
3-164792361-GA-CT c.212_213delinsAG p.V71E Missense 3/48 - 1
3-164792362-AC-CA c.211_212delinsTG p.V71C Missense 3/48 - 2
3-164792362-A-G c.212T>C p.V71A Missense 3/48 - 1
3-164792363-C-T c.211G>A p.V71I Missense 3/48 - 2
3-164792366-G-C c.208C>G p.P70A Missense 3/48 - 1
3-164792366-G-T c.208C>A p.P70T Missense 3/48 - 2
3-164792366-G-A c.208C>T p.P70S Missense 3/48 - 2
3-164792367-A-G c.207T>C p.D69= Synonymous 3/48 - 2
3-164792368-TC-CA c.205_206delinsTG p.D69C Missense 3/48 - 1
3-164792368-T-G c.206A>C p.D69A Missense 3/48 - 1
3-164792369-C-A c.205G>T p.D69Y Missense 3/48 - 1
3-164792369-C-G c.205G>C p.D69H Missense 3/48 - 1
3-164792369-C-T c.205G>A p.D69N Missense 3/48 - 1
3-164792371-TT-GC c.202_203delinsGC p.N68A Missense 3/48 - 2
3-164792371-TT-CA c.202_203delinsTG p.N68C Missense 3/48 - 1
3-164792372-T-C c.202A>G p.N68D Missense 3/48 - 6
3-164792372-T-G c.202A>C p.N68H Missense 3/48 - 2
3-164792373-T-A c.201A>T p.L67F Missense 3/48 - 3
3-164792373-T-G c.201A>C p.L67F Missense 3/48 - 3
3-164792373-TA-CC c.200_201delinsGG p.L67W Missense 3/48 - 1
3-164792374-AA-CT c.199_200delinsAG p.L67R Missense 3/48 - 1
3-164792374-AA-GC c.199_200delinsGC p.L67A Missense 3/48 - 1
3-164792375-A-C c.199T>G p.L67V Missense 3/48 - 1
3-164792376-CAC-GTT c.196_198delinsAAC p.V66N Missense 3/48 - 8
3-164792376-CA-GT c.197_198delinsAC p.V66D Missense 3/48 - 4
3-164792376-CAC-GAT c.196_198delinsATC p.V66I Missense 3/48 - 1
3-164792376-CAC-ACA c.196_198delinsTGT p.V66C Missense 3/48 - 1
3-164792376-C-T c.198G>A p.V66= Synonymous 3/48 - 1
3-164792376-C-G c.198G>C p.V66= Synonymous 3/48 - 1
3-164792376-C-A c.198G>T p.V66= Synonymous 3/48 - 1
3-164792377-A-G c.197T>C p.V66A Missense 3/48 - 4
3-164792377-A-T c.197T>A p.V66E Missense 3/48 - 2
3-164792377-AC-TG c.196_197delinsCA p.V66Q Missense 3/48 - 1
3-164792377-AC-GT c.196_197inv p.V66T Missense 3/48 - 1
3-164792377-AC-TT c.196_197delinsAA p.V66K Missense 3/48 - 1
3-164792378-C-T c.196G>A p.V66M Missense 3/48 - 5
3-164792380-T-C c.194A>G p.N65S Missense 3/48 - 1
3-164792381-T-G c.193A>C p.N65H Missense 3/48 - 1
3-164792382-TG-AT c.191_192delinsAT p.P64H Missense 3/48 - 1
3-164792383-GG-TT c.190_191delinsAA p.P64K Missense 3/48 - 1
3-164792383-GG-CC c.190_191inv p.P64G Missense 3/48 - 1
3-164792383-G-C c.191C>G p.P64R Missense 3/48 - 1
3-164792384-G-A c.190C>T p.P64S Missense 3/48 - 1
3-164792384-G-C c.190C>G p.P64A Missense 3/48 - 2
3-164792385-ACA-CTC c.187_189delinsGAG p.C63E Missense 3/48 - 1
3-164792386-C-G c.188G>C p.C63S Missense 3/48 - 2
3-164792386-CA-GC c.187_188delinsGC p.C63A Missense 3/48 - 2
3-164792386-CA-TC c.187_188delinsGA p.C63D Missense 3/48 - 2
3-164792386-CA-AC c.187_188delinsGT p.C63V Missense 3/48 - 1
3-164792386-C-T c.188G>A p.C63Y Missense 3/48 - 1
3-164792387-A-C c.187T>G p.C63G Missense 3/48 - 1
3-164792387-A-T c.187T>A p.C63S Missense 3/48 - 1
3-164792388-T-G c.186A>C p.K62N Missense 3/48 - 1
3-164792388-T-A c.186A>T p.K62N Missense 3/48 - 1
3-164792388-TTT-ACA c.184_186delinsTGT p.K62C Missense 3/48 - 1
3-164792389-TT-GC c.184_185delinsGC p.K62A Missense 3/48 - 1
3-164792389-TT-GG c.184_185delinsCC p.K62P Missense 3/48 - 1
3-164792390-T-G c.184A>C p.K62Q Missense 3/48 - 1
3-164792390-T-C c.184A>G p.K62E Missense 3/48 - 1
3-164792390-T-A c.184A>T p.K62* Nonsense 3/48 - 1
3-164792391-T-G c.183A>C p.G61= Synonymous 3/48 - 1
3-164792392-C-G c.182G>C p.G61A Missense 3/48 - 1
3-164792392-C-A c.182G>T p.G61V Missense 3/48 - 1
3-164792392-CC-AG c.181_182delinsCT p.G61L Missense 3/48 - 1
3-164792394-TG-AC c.179_180delinsGT p.S60C Missense 3/48 - 2
3-164792394-TG-CC c.179_180delinsGG p.S60W Missense 3/48 - 1
3-164792395-GA-CT c.178_179delinsAG p.S60R Missense 3/48 - 1
3-164792396-A-C c.178T>G p.S60A Missense 3/48 - 3
3-164792397-ATC-TTG c.175_177delinsCAA p.D59Q Missense 3/48 - 1
3-164792397-A-C c.177T>G p.D59E Missense 3/48 - 3
3-164792397-A-T c.177T>A p.D59E Missense 3/48 - 3
3-164792398-TC-CA c.175_176delinsTG p.D59C Missense 3/48 - 4
3-164792398-T-G c.176A>C p.D59A Missense 3/48 - 6
3-164792398-TC-CT c.175_176delinsAG p.D59S Missense 3/48 - 1
3-164792399-C-G c.175G>C p.D59H Missense 3/48 - 1
3-164792401-GA-AT c.172_173delinsAT p.S58I Missense 3/48 - 1
3-164792401-GA-CG c.172_173delinsCG p.S58R Missense 3/48 - 2
3-164792402-A-C c.172T>G p.S58A Missense 3/48 - 4
3-164792404-GG-CA c.169_170delinsTG p.P57C Missense 3/48 - 1
3-164792404-G-A c.170C>T p.P57L Missense 3/48 - 2
3-164792405-G-C c.169C>G p.P57A Missense 3/48 - 1
3-164792406-ATT-CTC c.166_168delinsGAG p.N56E Missense 3/48 - 1
3-164792409-T-C c.165A>G p.T55= Synonymous 3/48 - 1
3-164792409-T-A c.165A>T p.T55= Synonymous 3/48 - 1
3-164792409-T-G c.165A>C p.T55= Synonymous 3/48 - 1
3-164792409-TG-GT c.164_165delinsAC p.T55N Missense 3/48 - 1
3-164792411-T-A c.163A>T p.T55S Missense 3/48 - 1
3-164792412-A-T c.162T>A p.T54= Synonymous 3/48 - 2
3-164792412-A-C c.162T>G p.T54= Synonymous 3/48 - 2
3-164792412-A-G c.162T>C p.T54= Synonymous 3/48 - 2
3-164792412-AG-CC c.161_162delinsGG p.T54R Missense 3/48 - 2
3-164792412-AG-CA c.161_162delinsTG p.T54M Missense 3/48 - 1
3-164792413-GT-AC c.160_161inv p.T54V Missense 3/48 - 5
3-164792413-GT-CA c.160_161delinsTG p.T54C Missense 3/48 - 2
3-164792413-GT-AG c.160_161delinsCT p.T54L Missense 3/48 - 1
3-164792413-G-A c.161C>T p.T54I Missense 3/48 - 1
3-164792413-GT-TC c.160_161delinsGA p.T54D Missense 3/48 - 2
3-164792414-T-C c.160A>G p.T54A Missense 3/48 - 2
3-164792415-C-T c.159G>A p.V53= Synonymous 3/48 - 1
3-164792415-C-G c.159G>C p.V53= Synonymous 3/48 - 1
3-164792415-C-A c.159G>T p.V53= Synonymous 3/48 - 1
3-164792416-A-G c.158T>C p.V53A Missense 3/48 - 2
3-164792418-ACG-CTT c.154_156delinsAAG p.R52K Missense 3/48 - 1
3-164792418-AC-TT c.155_156delinsAA p.R52Q Missense 3/48 - 1
3-164792419-CG-AT c.154_155delinsAT p.R52I Missense 3/48 - 7
3-164792419-C-T c.155G>A p.R52H Missense 3/48 - 4
3-164792419-CG-GC c.154_155delinsGC p.R52A Missense 3/48 - 4
3-164792420-G-A c.154C>T p.R52C Missense 3/48 - 1
3-164792421-AGT-CCA c.151_153delinsTGG p.T51W Missense 3/48 - 1
3-164792422-GT-AC c.151_152inv p.T51V Missense 3/48 - 3
3-164792422-GT-AA c.151_152delinsTT p.T51F Missense 3/48 - 1
3-164792422-GT-CA c.151_152delinsTG p.T51C Missense 3/48 - 1
3-164792422-GT-TA c.151_152delinsTA p.T51Y Missense 3/48 - 1
3-164792422-G-A c.152C>T p.T51I Missense 3/48 - 1
3-164792424-A-T c.150T>A p.T50= Synonymous 3/48 - 2
3-164792424-A-C c.150T>G p.T50= Synonymous 3/48 - 2
3-164792424-A-G c.150T>C p.T50= Synonymous 3/48 - 2
3-164792424-AG-CA c.149_150delinsTG p.T50M Missense 3/48 - 1
3-164792424-AG-CT c.149_150inv p.T50K Missense 3/48 - 1
3-164792425-GT-CA c.148_149delinsTG p.T50C Missense 3/48 - 1
3-164792425-G-A c.149C>T p.T50I Missense 3/48 - 1
3-164792425-G-C c.149C>G p.T50S Missense 3/48 - 1
3-164792426-T-A c.148A>T p.T50S Missense 3/48 - 1
3-164792425-GT-AC c.148_149inv p.T50V Missense 3/48 - 1
3-164792426-T-C c.148A>G p.T50A Missense 3/48 - 3
3-164792427-A-T c.147T>A p.A49= Synonymous 3/48 - 7
3-164792427-A-G c.147T>C p.A49= Synonymous 3/48 - 7
3-164792427-A-C c.147T>G p.A49= Synonymous 3/48 - 7
3-164792427-AG-CT c.146_147inv p.A49E Missense 3/48 - 7
3-164792428-G-T c.146C>A p.A49D Missense 3/48 - 4
3-164792428-G-C c.146C>G p.A49G Missense 3/48 - 3
3-164792428-GC-CA c.145_146delinsTG p.A49C Missense 3/48 - 5
3-164792428-GC-CG c.145_146delinsCG p.A49R Missense 3/48 - 1
3-164792428-G-GC c.145dup p.A49Gfs*11 Frameshift 3/48 - 1
3-164792430-T-TAA c.143_144insTT p.A49* Nonsense 3/48 - 1
3-164792430-TG-AT c.143_144delinsAT p.P48H Missense 3/48 - 1
3-164792431-G-A c.143C>T p.P48L Missense 3/48 - 2
3-164792432-G-A c.142C>T p.P48S Missense 3/48 - 1
3-164792434-GT-TC c.139_140delinsGA p.T47D Missense 3/48 - 248
3-164792434-GT-CA c.139_140delinsTG p.T47C Missense 3/48 - 1
3-164792434-G-A c.140C>T p.T47I Missense 3/48 - 1
3-164792434-G-C c.140C>G p.T47S Missense 3/48 - 1
3-164792435-T-A c.139A>T p.T47S Missense 3/48 - 1
3-164792435-T-C c.139A>G p.T47A Missense 3/48 - 3
3-164792436-TG-AA c.137_138delinsTT p.S46F Missense 3/48 - 1
3-164792436-TG-AT c.137_138delinsAT p.S46Y Missense 3/48 - 1
3-164792436-T-A c.138A>T p.S46= Synonymous 3/48 - 1
3-164792436-T-C c.138A>G p.S46= Synonymous 3/48 - 1
3-164792436-T-G c.138A>C p.S46= Synonymous 3/48 - 1
3-164792436-TG-AC c.137_138delinsGT p.S46C Missense 3/48 - 2
3-164792436-TGA-GTT c.136_138delinsAAC p.S46N Missense 3/48 - 1
3-164792438-A-C c.136T>G p.S46A Missense 3/48 - 8
3-164792438-A-G c.136T>C p.S46P Missense 3/48 - 1
3-164792439-AG-CA c.134_135delinsTG p.T45M Missense 3/48 - 1
3-164792439-A-C c.135T>G p.T45= Synonymous 3/48 - 1
3-164792439-A-T c.135T>A p.T45= Synonymous 3/48 - 1
3-164792439-A-G c.135T>C p.T45= Synonymous 3/48 - 1
3-164792439-AGT-CCA c.133_135delinsTGG p.T45W Missense 3/48 - 1
3-164792440-G-A c.134C>T p.T45I Missense 3/48 - 1
3-164792440-G-C c.134C>G p.T45S Missense 3/48 - 2
3-164792441-T-A c.133A>T p.T45S Missense 3/48 - 2
3-164792440-GT-TG c.133_134delinsCA p.T45H Missense 3/48 - 1
3-164792440-GT-CA c.133_134delinsTG p.T45C Missense 3/48 - 2
3-164792442-A-C c.132T>G p.S44= Synonymous 3/48 - 1
3-164792442-A-G c.132T>C p.S44= Synonymous 3/48 - 1
3-164792442-A-T c.132T>A p.S44= Synonymous 3/48 - 1
3-164792442-AGA-CTC c.130_132delinsGAG p.S44E Missense 3/48 - 1
3-164792443-GA-CC c.130_131delinsGG p.S44G Missense 3/48 - 1
3-164792443-GA-TC c.130_131inv p.S44D Missense 3/48 - 2
3-164792443-G-C c.131C>G p.S44C Missense 3/48 - 2
3-164792444-A-C c.130T>G p.S44A Missense 3/48 - 9
3-164792444-A-G c.130T>C p.S44P Missense 3/48 - 2
3-164792445-A-G c.129T>C p.D43= Synonymous 3/48 - 1
3-164792446-TC-AA c.127_128delinsTT p.D43F Missense 3/48 - 1
3-164792446-TC-CA c.127_128delinsTG p.D43C Missense 3/48 - 4
3-164792446-T-G c.128A>C p.D43A Missense 3/48 - 3
3-164792447-C-A c.127G>T p.D43Y Missense 3/48 - 1
3-164792447-C-T c.127G>A p.D43N Missense 3/48 - 1
3-164792448-A-G c.126T>C p.S42= Synonymous 3/48 - 1
3-164792448-ACT-CTC c.124_126delinsGAG p.S42E Missense 3/48 - 1
3-164792449-CT-GC c.124_125delinsGC p.S42A Missense 3/48 - 5
3-164792449-C-G c.125G>C p.S42T Missense 3/48 - 1
3-164792450-T-C c.124A>G p.S42G Missense 3/48 - 1
3-164792451-AAT-CTC c.121_123delinsGAG p.I41E Missense 3/48 - 1
3-164792452-AT-GC c.121_122delinsGC p.I41A Missense 3/48 - 2
3-164792454-T-G c.120A>C p.E40D Missense 3/48 - 3
3-164792454-T-A c.120A>T p.E40D Missense 3/48 - 3
3-164792455-T-G c.119A>C p.E40A Missense 3/48 - 3
3-164792631-A-G c.119-176T>C - IntronicSNV - 2/47 1
3-164793683-C-T c.118G>A p.E40K Missense 2/48 - 4
3-164793684-A-C c.117T>G p.D39E Missense 2/48 - 1
3-164793684-A-T c.117T>A p.D39E Missense 2/48 - 1
3-164793684-A-G c.117T>C p.D39= Synonymous 2/48 - 1
3-164793684-ATC-TTA c.115_117delinsTAA p.D39* Nonsense 2/48 - 1
3-164793685-T-G c.116A>C p.D39A Missense 2/48 - 7
3-164793685-TC-CA c.115_116delinsTG p.D39C Missense 2/48 - 1
3-164793685-T-A c.116A>T p.D39V Missense 2/48 - 1
3-164793685-TC-AA c.115_116delinsTT p.D39F Missense 2/48 - 1
3-164793686-C-T c.115G>A p.D39N Missense 2/48 - 1
3-164793687-AA-CT c.113_114delinsAG p.V38E Missense 2/48 - 6
3-164793687-A-T c.114T>A p.V38= Synonymous 2/48 - 1
3-164793687-A-G c.114T>C p.V38= Synonymous 2/48 - 1
3-164793687-A-C c.114T>G p.V38= Synonymous 2/48 - 1
3-164793688-A-G c.113T>C p.V38A Missense 2/48 - 6
3-164793688-AC-CT c.112_113delinsAG p.V38S Missense 2/48 - 1
3-164793689-C-T c.112G>A p.V38I Missense 2/48 - 1
3-164793690-AG-CT c.110_111inv p.A37E Missense 2/48 - 2
3-164793690-A-T c.111T>A p.A37= Synonymous 2/48 - 5
3-164793690-A-G c.111T>C p.A37= Synonymous 2/48 - 5
3-164793690-A-C c.111T>G p.A37= Synonymous 2/48 - 5
3-164793691-GC-CA c.109_110delinsTG p.A37C Missense 2/48 - 5
3-164793691-G-C c.110C>G p.A37G Missense 2/48 - 5
3-164793691-G-T c.110C>A p.A37D Missense 2/48 - 3
3-164793691-GC-AG c.109_110delinsCT p.A37L Missense 2/48 - 1
3-164793691-GC-AA c.109_110delinsTT p.A37F Missense 2/48 - 1
3-164793693-A-C c.108T>G p.P36= Synonymous 2/48 - 1
3-164793693-A-T c.108T>A p.P36= Synonymous 2/48 - 1
3-164793693-A-G c.108T>C p.P36= Synonymous 2/48 - 1
3-164793694-GG-CA c.106_107delinsTG p.P36C Missense 2/48 - 1
3-164793694-G-C c.107C>G p.P36R Missense 2/48 - 1
3-164793696-TGT-ACA c.103_105inv p.T35C Missense 2/48 - 2
3-164793696-TG-GT c.104_105delinsAC p.T35N Missense 2/48 - 1
3-164793697-G-A c.104C>T p.T35I Missense 2/48 - 3
3-164793697-GT-AC c.103_104inv p.T35V Missense 2/48 - 1
3-164793698-T-C c.103A>G p.T35A Missense 2/48 - 7
3-164793698-T-A c.103A>T p.T35S Missense 2/48 - 10
3-164793698-T-G c.103A>C p.T35P Missense 2/48 - 1
3-164793699-CTT-GTC c.100_102delinsGAC p.K34D Missense 2/48 - 1
3-164793700-T-G c.101A>C p.K34T Missense 2/48 - 1
3-164793700-TT-AC c.100_101delinsGT p.K34V Missense 2/48 - 1
3-164793700-TT-GC c.100_101delinsGC p.K34A Missense 2/48 - 2
3-164793701-T-G c.100A>C p.K34Q Missense 2/48 - 1
3-164793702-A-T c.99T>A p.T33= Synonymous 2/48 - 1
3-164793702-A-C c.99T>G p.T33= Synonymous 2/48 - 1
3-164793702-A-G c.99T>C p.T33= Synonymous 2/48 - 1
3-164793703-GT-CA c.97_98delinsTG p.T33C Missense 2/48 - 1
3-164793704-T-C c.97A>G p.T33A Missense 2/48 - 3
3-164793705-TGC-ATA c.94_96delinsTAT p.A32Y Missense 2/48 - 2
3-164793705-T-G c.96A>C p.A32= Synonymous 2/48 - 9
3-164793705-T-C c.96A>G p.A32= Synonymous 2/48 - 9
3-164793705-T-A c.96A>T p.A32= Synonymous 2/48 - 9
3-164793705-TGC-CCA c.94_96delinsTGG p.A32W Missense 2/48 - 2
3-164793705-TG-GT c.95_96delinsAC p.A32D Missense 2/48 - 11
3-164793705-TGC-AAA c.94_96delinsTTT p.A32F Missense 2/48 - 3
3-164793705-TGC-ACA c.94_96delinsTGT p.A32C Missense 2/48 - 4
3-164793705-TGC-GTT c.94_96delinsAAC p.A32N Missense 2/48 - 1
3-164793705-TGC-ATG c.94_96delinsCAT p.A32H Missense 2/48 - 1
3-164793706-G-T c.95C>A p.A32E Missense 2/48 - 9
3-164793706-GC-AT c.94_95delinsAT p.A32I Missense 2/48 - 1
3-164793706-G-C c.95C>G p.A32G Missense 2/48 - 2
3-164793706-GC-CT c.94_95delinsAG p.A32R Missense 2/48 - 1
3-164793706-G-A c.95C>T p.A32V Missense 2/48 - 1
3-164793707-C-A c.94G>T p.A32S Missense 2/48 - 1
3-164793708-TA-CC c.92_93delinsGG p.L31W Missense 2/48 - 1
3-164793708-TAA-CAT c.91_93delinsATG p.L31M Missense 2/48 - 1
3-164793709-AA-CC c.91_92delinsGG p.L31G Missense 2/48 - 1
3-164793709-AA-TC c.91_92delinsGA p.L31E Missense 2/48 - 3
3-164793709-AA-GC c.91_92delinsGC p.L31A Missense 2/48 - 2
3-164793709-AA-GG c.91_92delinsCC p.L31P Missense 2/48 - 1
3-164793710-A-C c.91T>G p.L31V Missense 2/48 - 2
3-164793710-A-T c.91T>A p.L31I Missense 2/48 - 1
3-164793711-AAC-CAT c.88_90delinsATG p.V30M Missense 2/48 - 24
3-164793712-A-C c.89T>G p.V30G Missense 2/48 - 1
3-164793712-A-G c.89T>C p.V30A Missense 2/48 - 1
3-164793713-C-G c.88G>C p.V30L Missense 2/48 - 3
3-164793715-AC-TG c.85_86delinsCA p.V29H Missense 2/48 - 1
3-164793715-A-C c.86T>G p.V29G Missense 2/48 - 1
3-164793715-A-G c.86T>C p.V29A Missense 2/48 - 1
3-164793715-AC-CA c.85_86delinsTG p.V29C Missense 2/48 - 1
3-164793715-AC-TT c.85_86delinsAA p.V29N Missense 2/48 - 1
3-164793715-AC-TA c.85_86delinsTA p.V29Y Missense 2/48 - 1
3-164793716-C-A c.85G>T p.V29F Missense 2/48 - 1
3-164793716-C-T c.85G>A p.V29I Missense 2/48 - 3
3-164793716-C-G c.85G>C p.V29L Missense 2/48 - 1
3-164793717-AA-CT c.83_84delinsAG p.I28K Missense 2/48 - 1
3-164793718-AT-GC c.82_83delinsGC p.I28A Missense 2/48 - 5
3-164793718-AT-CC c.82_83delinsGG p.I28G Missense 2/48 - 1
3-164793718-A-T c.83T>A p.I28N Missense 2/48 - 1
3-164793718-A-G c.83T>C p.I28T Missense 2/48 - 1
3-164793718-A-C c.83T>G p.I28S Missense 2/48 - 1
3-164793719-T-C c.82A>G p.I28V Missense 2/48 - 2
3-164793719-T-G c.82A>C p.I28L Missense 2/48 - 1
3-164793720-T-A c.81A>T p.L27F Missense 2/48 - 2
3-164793720-T-G c.81A>C p.L27F Missense 2/48 - 2
3-164793720-TA-AC c.80_81delinsGT p.L27C Missense 2/48 - 1
3-164793720-TAA-GTC c.79_81delinsGAC p.L27D Missense 2/48 - 4
3-164793720-TA-CC c.80_81delinsGG p.L27W Missense 2/48 - 1
3-164793721-AA-GC c.79_80delinsGC p.L27A Missense 2/48 - 3
3-164793721-A-G c.80T>C p.L27S Missense 2/48 - 2
3-164793721-AA-TC c.79_80delinsGA p.L27E Missense 2/48 - 2
3-164793721-AA-CT c.79_80delinsAG p.L27R Missense 2/48 - 1
3-164793723-G-T c.78C>A p.A26= Synonymous 2/48 - 2
3-164793723-G-C c.78C>G p.A26= Synonymous 2/48 - 2
3-164793723-G-A c.78C>T p.A26= Synonymous 2/48 - 2
3-164793723-GG-CT c.77_78delinsAG p.A26E Missense 2/48 - 2
3-164793723-GGC-CTT c.76_78delinsAAG p.A26K Missense 2/48 - 1
3-164793724-G-C c.77C>G p.A26G Missense 2/48 - 3
3-164793724-GC-CA c.76_77delinsTG p.A26C Missense 2/48 - 5
3-164793724-GC-AA c.76_77delinsTT p.A26F Missense 2/48 - 7
3-164793724-G-A c.77C>T p.A26V Missense 2/48 - 1
3-164793724-GC-AG c.76_77delinsCT p.A26L Missense 2/48 - 2
3-164793725-C-T c.76G>A p.A26T Missense 2/48 - 3
3-164793726-AAT-TTA c.73_75delinsTAA p.I25* Nonsense 2/48 - 1
3-164793726-AA-CC c.74_75delinsGG p.I25R Missense 2/48 - 1
3-164793727-AT-GC c.73_74delinsGC p.I25A Missense 2/48 - 3
3-164793727-AT-CA c.73_74delinsTG p.I25C Missense 2/48 - 1
3-164793727-A-C c.74T>G p.I25S Missense 2/48 - 1
3-164793729-AG-CT c.71_72inv p.A24E Missense 2/48 - 9
3-164793729-A-T c.72T>A p.A24= Synonymous 2/48 - 4
3-164793729-A-G c.72T>C p.A24= Synonymous 2/48 - 4
3-164793729-A-C c.72T>G p.A24= Synonymous 2/48 - 4
3-164793730-GC-AA c.70_71delinsTT p.A24F Missense 2/48 - 5
3-164793730-G-T c.71C>A p.A24D Missense 2/48 - 5
3-164793730-GC-TG c.70_71delinsCA p.A24H Missense 2/48 - 5
3-164793730-GC-CA c.70_71delinsTG p.A24C Missense 2/48 - 9
3-164793730-GC-CG c.70_71delinsCG p.A24R Missense 2/48 - 2
3-164793730-GC-TA c.70_71delinsTA p.A24Y Missense 2/48 - 1
3-164793730-G-A c.71C>T p.A24V Missense 2/48 - 1
3-164793731-C-T c.70G>A p.A24T Missense 2/48 - 1
3-164793731-GC-G c.70del p.A24Lfs*4 Frameshift 2/48 - 1
3-164793732-TAT-GTC c.67_69delinsGAC p.I23D Missense 2/48 - 1
3-164793733-AT-GC c.67_68delinsGC p.I23A Missense 2/48 - 1
3-164793733-AT-CC c.67_68delinsGG p.I23G Missense 2/48 - 1
3-164793734-T-C c.67A>G p.I23V Missense 2/48 - 1
3-164793735-TAT-AAA c.64_66delinsTTT p.I22F Missense 2/48 - 2
3-164793735-TAT-GTC c.64_66delinsGAC p.I22D Missense 2/48 - 2
3-164793735-TA-GT c.65_66delinsAC p.I22N Missense 2/48 - 1
3-164793736-AT-GC c.64_65delinsGC p.I22A Missense 2/48 - 2
3-164793736-A-G c.65T>C p.I22T Missense 2/48 - 1
3-164793736-AT-TC c.64_65delinsGA p.I22E Missense 2/48 - 1
3-164793737-T-C c.64A>G p.I22V Missense 2/48 - 3
3-164793737-T-G c.64A>C p.I22L Missense 2/48 - 1
3-164793737-T-A c.64A>T p.I22L Missense 2/48 - 1
3-164793738-AG-CA c.62_63delinsTG p.T21M Missense 2/48 - 1
3-164793738-AGT-CCA c.61_63delinsTGG p.T21W Missense 2/48 - 1
3-164793739-GT-AG c.61_62delinsCT p.T21L Missense 2/48 - 1
3-164793739-GT-TC c.61_62delinsGA p.T21D Missense 2/48 - 2
3-164793739-G-T c.62C>A p.T21N Missense 2/48 - 4
3-164793739-G-A c.62C>T p.T21I Missense 2/48 - 1
3-164793739-GT-CA c.61_62delinsTG p.T21C Missense 2/48 - 1
3-164793740-T-C c.61A>G p.T21A Missense 2/48 - 2
3-164793741-A-T c.60T>A p.V20= Synonymous 2/48 - 1
3-164793741-A-G c.60T>C p.V20= Synonymous 2/48 - 1
3-164793741-A-C c.60T>G p.V20= Synonymous 2/48 - 1
3-164793742-A-T c.59T>A p.V20D Missense 2/48 - 1
3-164793742-AC-TT c.58_59delinsAA p.V20N Missense 2/48 - 1
3-164793742-AC-CT c.58_59delinsAG p.V20S Missense 2/48 - 1
3-164793742-A-G c.59T>C p.V20A Missense 2/48 - 1
3-164793742-A-C c.59T>G p.V20G Missense 2/48 - 1
3-164793743-C-T c.58G>A p.V20I Missense 2/48 - 2
3-164793744-T-G c.57A>C p.I19= Synonymous 2/48 - 1
3-164793744-T-A c.57A>T p.I19= Synonymous 2/48 - 1
3-164793744-CTATGACAAAAAG-C c.46_57del p.L16_I19del InFrameDeletion 2/48 - 1
3-164793744-TA-GT c.56_57delinsAC p.I19N Missense 2/48 - 1
3-164793744-TAT-AAA c.55_57delinsTTT p.I19F Missense 2/48 - 1
3-164793745-AT-GC c.55_56delinsGC p.I19A Missense 2/48 - 2
3-164793745-A-C c.56T>G p.I19R Missense 2/48 - 1
3-164793746-T-G c.55A>C p.I19L Missense 2/48 - 2
3-164793746-T-A c.55A>T p.I19L Missense 2/48 - 2
3-164793747-GAC-TTA c.52_54delinsTAA p.V18* Nonsense 2/48 - 1
3-164793747-GAC-CAT c.52_54delinsATG p.V18M Missense 2/48 - 2
3-164793748-A-G c.53T>C p.V18A Missense 2/48 - 3
3-164793748-AC-CT c.52_53delinsAG p.V18S Missense 2/48 - 1
3-164793748-AC-GG c.52_53delinsCC p.V18P Missense 2/48 - 1
3-164793748-AC-CA c.52_53delinsTG p.V18C Missense 2/48 - 1
3-164793748-AC-TT c.52_53delinsAA p.V18N Missense 2/48 - 2
3-164793750-AAA-CTC c.49_51delinsGAG p.F17E Missense 2/48 - 2
3-164793751-AA-GC c.49_50delinsGC p.F17A Missense 2/48 - 3
3-164793751-AA-CG c.49_50delinsCG p.F17R Missense 2/48 - 1
3-164793751-A-C c.50T>G p.F17C Missense 2/48 - 2
3-164793751-AA-TC c.49_50delinsGA p.F17D Missense 2/48 - 1
3-164793749-CAAA-C c.49_51del p.F17del InFrameDeletion 2/48 - 1
3-164793753-A-C c.48T>G p.L16= Synonymous 2/48 - 1
3-164793753-A-T c.48T>A p.L16= Synonymous 2/48 - 1
3-164793753-A-G c.48T>C p.L16= Synonymous 2/48 - 1
3-164793753-AA-TT c.47_48inv p.L16Q Missense 2/48 - 1
3-164793753-AAG-CTT c.46_48inv p.L16K Missense 2/48 - 1
3-164793754-AG-CA c.46_47delinsTG p.L16C Missense 2/48 - 6
3-164793754-AG-GC c.46_47delinsGC p.L16A Missense 2/48 - 2
3-164793754-A-G c.47T>C p.L16P Missense 2/48 - 3
3-164793754-A-C c.47T>G p.L16R Missense 2/48 - 1
3-164793755-G-T c.46C>A p.L16I Missense 2/48 - 1
3-164793755-G-C c.46C>G p.L16V Missense 2/48 - 1
3-164793755-G-A c.46C>T p.L16F Missense 2/48 - 1
3-164793756-GAC-CAT c.43_45delinsATG p.V15M Missense 2/48 - 2
3-164793757-AC-GG c.43_44delinsCC p.V15P Missense 2/48 - 3
3-164793757-A-G c.44T>C p.V15A Missense 2/48 - 2
3-164793758-C-A c.43G>T p.V15F Missense 2/48 - 9
3-164793758-C-T c.43G>A p.V15I Missense 2/48 - 12
3-164793759-A-C c.42T>G p.I14M Missense 2/48 - 1
3-164793759-AAT-CTC c.40_42delinsGAG p.I14E Missense 2/48 - 1
3-164793760-AT-CC c.40_41delinsGG p.I14G Missense 2/48 - 3
3-164793760-AT-GC c.40_41delinsGC p.I14A Missense 2/48 - 4
3-164793761-T-C c.40A>G p.I14V Missense 2/48 - 2
3-164793762-CAG-GTT c.37_39delinsAAC p.L13N Missense 2/48 - 3
3-164793762-CAG-GAT c.37_39delinsATC p.L13I Missense 2/48 - 2
3-164793762-CAG-GTC c.37_39delinsGAC p.L13D Missense 2/48 - 2
3-164793762-CAG-ACA c.37_39delinsTGT p.L13C Missense 2/48 - 2
3-164793762-CAG-AAA c.37_39delinsTTT p.L13F Missense 2/48 - 1
3-164793762-CA-AT c.38_39delinsAT p.L13H Missense 2/48 - 1
3-164793763-AG-GC c.37_38delinsGC p.L13A Missense 2/48 - 21
3-164793763-AG-TC c.37_38delinsGA p.L13E Missense 2/48 - 4
3-164793763-A-G c.38T>C p.L13P Missense 2/48 - 2
3-164793763-AG-CC c.37_38delinsGG p.L13G Missense 2/48 - 1
3-164793764-G-C c.37C>G p.L13V Missense 2/48 - 3
3-164793765-AGA-CTC c.34_36delinsGAG p.S12E Missense 2/48 - 29
3-164793765-AGA-CAT c.34_36delinsATG p.S12M Missense 2/48 - 2
3-164793765-A-C c.36T>G p.S12= Synonymous 2/48 - 4
3-164793765-A-G c.36T>C p.S12= Synonymous 2/48 - 4
3-164793765-A-T c.36T>A p.S12= Synonymous 2/48 - 4
3-164793765-AGA-CTT c.34_36delinsAAG p.S12K Missense 2/48 - 1
3-164793766-GA-CC c.34_35delinsGG p.S12G Missense 2/48 - 10
3-164793766-G-C c.35C>G p.S12C Missense 2/48 - 104
3-164793766-GA-TC c.34_35inv p.S12D Missense 2/48 - 57
3-164793766-GA-AG c.34_35delinsCT p.S12L Missense 2/48 - 2
3-164793766-GA-AT c.34_35delinsAT p.S12I Missense 2/48 - 8
3-164793766-G-A c.35C>T p.S12F Missense 2/48 - 10
3-164793766-GA-TG c.34_35delinsCA p.S12H Missense 2/48 - 3
3-164793766-GA-CG c.34_35delinsCG p.S12R Missense 2/48 - 1
3-164793767-A-C c.34T>G p.S12A Missense 2/48 - 253
3-164793767-A-G c.34T>C p.S12P Missense 2/48 - 1
3-164793768-G-T c.33C>A p.I11= Synonymous 2/48 - 1
3-164793768-G-A c.33C>T p.I11= Synonymous 2/48 - 1
3-164793769-AT-GC c.31_32delinsGC p.I11A Missense 2/48 - 2
3-164793769-A-C c.32T>G p.I11S Missense 2/48 - 1
3-164793770-T-G c.31A>C p.I11L Missense 2/48 - 1
3-164793771-TTC-ACA c.28_30delinsTGT p.E10C Missense 2/48 - 1
3-164793771-T-C c.30A>G p.E10= Synonymous 2/48 - 1
3-164793771-T-G c.30A>C p.E10D Missense 2/48 - 1
3-164793771-T-A c.30A>T p.E10D Missense 2/48 - 1
3-164793772-TC-GA c.28_29inv p.E10S Missense 2/48 - 1
3-164793772-TC-AT c.28_29delinsAT p.E10I Missense 2/48 - 1
3-164793772-T-G c.29A>C p.E10A Missense 2/48 - 1
3-164793773-C-A c.28G>T p.E10* Nonsense 2/48 - 2
3-164793778-C-A c.23G>T p.G8V Missense 2/48 - 1
3-164793780-A-G c.21T>C p.S7= Synonymous 2/48 - 2
3-164793786-T-C c.15A>G p.K5= Synonymous 2/48 - 1
3-164793787-T-C c.14A>G p.K5R Missense 2/48 - 1
3-164793789-C-G c.12G>C p.K4N Missense 2/48 - 1
3-164793789-C-T c.12G>A p.K4= Synonymous 2/48 - 2
3-164793792-T-C c.9A>G p.R3= Synonymous 2/48 - 18
3-164793794-T-G c.7A>C p.R3= Synonymous 2/48 - 17
3-164793795-T-G c.6A>C p.A2= Synonymous 2/48 - 11
3-164793795-T-C c.6A>G p.A2= Synonymous 2/48 - 11
3-164793795-T-A c.6A>T p.A2= Synonymous 2/48 - 11
3-164793796-G-A c.5C>T p.A2V Missense 2/48 - 1
3-164793798-C-T c.3G>A p.M1? Missense 2/48 - 1
3-164793799-A-C c.2T>G p.M1? Missense 2/48 - 1