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-A |
c.5364G>T |
p.T1788= |
Synonymous |
47/48 |
- |
1 |
3-164700082-C-G |
c.5364G>C |
p.T1788= |
Synonymous |
47/48 |
- |
1 |
3-164700082-C-T |
c.5364G>A |
p.T1788= |
Synonymous |
47/48 |
- |
1 |
3-164700098-TT-GC |
c.5347_5348delinsGC |
p.N1783A |
Missense |
47/48 |
- |
1 |
3-164700124-T-A |
c.5322A>T |
p.V1774= |
Synonymous |
47/48 |
- |
1 |
3-164700124-T-C |
c.5322A>G |
p.V1774= |
Synonymous |
47/48 |
- |
1 |
3-164700124-T-G |
c.5322A>C |
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-C |
c.5052T>G |
p.H1684Q |
Missense |
44/48 |
- |
1 |
3-164709197-A-T |
c.5052T>A |
p.H1684Q |
Missense |
44/48 |
- |
1 |
3-164709250-C-G |
c.4999G>C |
p.V1667L |
Missense |
44/48 |
- |
1 |
3-164709977-A-C |
c.4971T>G |
p.F1657L |
Missense |
43/48 |
- |
1 |
3-164709977-A-T |
c.4971T>A |
p.F1657L |
Missense |
43/48 |
- |
1 |
3-164709979-A-G |
c.4969T>C |
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 |
3-164714413-G-C |
c.4602C>G |
p.F1534L |
Missense |
40/48 |
- |
1 |
3-164714413-G-T |
c.4602C>A |
p.F1534L |
Missense |
40/48 |
- |
1 |
3-164714415-A-G |
c.4600T>C |
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-A |
c.4569G>T |
p.M1523I |
Missense |
39/48 |
- |
1 |
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 |
3-164716348-T-A |
c.4520A>T |
p.N1507I |
Missense |
38/48 |
- |
1 |
3-164716348-T-C |
c.4520A>G |
p.N1507S |
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-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-TCC-ACA |
c.4471_4473delinsTGT |
p.G1491C |
Missense |
38/48 |
- |
2 |
3-164716395-TCC-CAT |
c.4471_4473delinsATG |
p.G1491M |
Missense |
38/48 |
- |
1 |
3-164716395-T-G |
c.4473A>C |
p.G1491= |
Synonymous |
38/48 |
- |
1 |
3-164716396-CC-AT |
c.4471_4472delinsAT |
p.G1491I |
Missense |
38/48 |
- |
1 |
3-164716396-C-G |
c.4472G>C |
p.G1491A |
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-CG-GC |
c.4450_4451delinsGC |
p.R1484A |
Missense |
38/48 |
- |
1 |
3-164716417-C-T |
c.4451G>A |
p.R1484H |
Missense |
38/48 |
- |
3 |
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-A |
c.4392G>T |
p.M1464I |
Missense |
37/48 |
- |
1 |
3-164724618-C-G |
c.4392G>C |
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-C |
c.4251T>G |
p.Y1417* |
Nonsense |
36/48 |
- |
1 |
3-164725715-A-T |
c.4251T>A |
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-A |
c.4198A>T |
p.S1400C |
Missense |
36/48 |
- |
2 |
3-164725768-T-C |
c.4198A>G |
p.S1400G |
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-G |
c.3955G>C |
p.V1319L |
Missense |
33/48 |
- |
1 |
3-164732955-C-T |
c.3955G>A |
p.V1319I |
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-A |
c.3792A>T |
p.E1264D |
Missense |
32/48 |
- |
4 |
3-164733836-T-G |
c.3792A>C |
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 |
3-164735409-C-G |
c.3686G>C |
p.C1229S |
Missense |
31/48 |
- |
1 |
3-164735410-A-T |
c.3685T>A |
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-A |
c.3018C>T |
p.A1006= |
Synonymous |
26/48 |
- |
1 |
3-164741439-G-C |
c.3018C>G |
p.A1006= |
Synonymous |
26/48 |
- |
1 |
3-164741439-G-T |
c.3018C>A |
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 |
3-164748599-C-T |
c.2793G>A |
p.W931* |
Nonsense |
25/48 |
- |
2 |
3-164748600-C-T |
c.2792G>A |
p.W931* |
Nonsense |
25/48 |
- |
1 |
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-ACA |
c.2674_2676delinsTGT |
p.V892C |
Missense |
24/48 |
- |
1 |
3-164750370-CAC-GAT |
c.2674_2676delinsATC |
p.V892I |
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 |
3-164750461-C-G |
c.2585G>C |
p.C862S |
Missense |
24/48 |
- |
1 |
3-164750462-A-T |
c.2584T>A |
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-C |
c.2569A>G |
p.T857A |
Missense |
24/48 |
- |
1 |
3-164750477-T-G |
c.2569A>C |
p.T857P |
Missense |
24/48 |
- |
1 |
3-164750478-G-C |
c.2568C>G |
p.N856K |
Missense |
24/48 |
- |
9 |
3-164750478-G-T |
c.2568C>A |
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-A |
c.2520A>T |
p.T840= |
Synonymous |
23/48 |
- |
1 |
3-164751228-T-C |
c.2520A>G |
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-ACA |
c.2473_2475inv |
p.T825C |
Missense |
22/48 |
- |
1 |
3-164754217-TGT-GTC |
c.2473_2475delinsGAC |
p.T825D |
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 |
3-164755713-C-CT |
c.2400dup |
p.E801Rfs*11 |
Frameshift |
21/48 |
- |
1 |
3-164755715-T-C |
c.2399A>G |
p.Q800R |
Missense |
21/48 |
- |
2 |
3-164755730-T-A |
c.2384A>T |
p.Y795F |
Missense |
21/48 |
- |
1 |
3-164755730-TA-GC |
c.2383_2384delinsGC |
p.Y795A |
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-C-A |
c.2322G>T |
p.R774S |
Missense |
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 |
3-164755794-T-C |
c.2320A>G |
p.R774G |
Missense |
21/48 |
- |
5 |
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 |
3-164755796-C-T |
c.2318G>A |
p.W773* |
Nonsense |
21/48 |
- |
1 |
3-164755797-A-C |
c.2317T>G |
p.W773G |
Missense |
21/48 |
- |
1 |
3-164755797-A-G |
c.2317T>C |
p.W773R |
Missense |
21/48 |
- |
1 |
3-164755797-A-T |
c.2317T>A |
p.W773R |
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-G |
c.2251G>C |
p.D751H |
Missense |
20/48 |
- |
1 |
3-164756916-C-T |
c.2251G>A |
p.D751N |
Missense |
20/48 |
- |
1 |
3-164756918-G-A |
c.2249C>T |
p.A750V |
Missense |
20/48 |
- |
1 |
3-164756918-G-C |
c.2249C>G |
p.A750G |
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-A |
c.2149G>T |
p.V717F |
Missense |
18/48 |
- |
4 |
3-164758738-C-G |
c.2149G>C |
p.V717L |
Missense |
18/48 |
- |
1 |
3-164758738-C-T |
c.2149G>A |
p.V717I |
Missense |
18/48 |
- |
5 |
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-T-C |
c.2114A>G |
p.K705R |
Missense |
18/48 |
- |
1 |
3-164758773-TT-GC |
c.2113_2114delinsGC |
p.K705A |
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-GAG-CAT |
c.2095_2097delinsATG |
p.L699M |
Missense |
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 |
3-164758798-G-A |
c.2089C>T |
p.P697S |
Missense |
18/48 |
- |
1 |
3-164758807-T-C |
c.2080A>G |
p.T694A |
Missense |
18/48 |
- |
1 |
3-164758807-T-G |
c.2080A>C |
p.T694P |
Missense |
18/48 |
- |
3 |
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-A |
c.2031G>T |
p.Q677H |
Missense |
18/48 |
- |
14 |
3-164758856-C-G |
c.2031G>C |
p.Q677H |
Missense |
18/48 |
- |
15 |
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-G |
c.1996G>C |
p.G666R |
Missense |
17/48 |
- |
1 |
3-164760855-C-T |
c.1996G>A |
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-GC |
c.1978_1979delinsGC |
p.R660A |
Missense |
17/48 |
- |
1 |
3-164760872-CT-TC |
c.1978_1979delinsGA |
p.R660E |
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-A |
c.1958G>T |
p.G653V |
Missense |
17/48 |
- |
1 |
3-164760893-C-T |
c.1958G>A |
p.G653E |
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-G |
c.1891G>C |
p.G631R |
Missense |
17/48 |
- |
1 |
3-164760960-C-T |
c.1891G>A |
p.G631R |
Missense |
17/48 |
- |
2 |
3-164760962-A-G |
c.1889T>C |
p.V630A |
Missense |
17/48 |
- |
1 |
3-164761113-A-G |
c.1888-150T>C |
- |
IntronicSNV |
- |
16/47 |
1 |
3-164761113-A-T |
c.1888-150T>A |
- |
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-G |
c.1877G>C |
p.G626A |
Missense |
16/48 |
- |
1 |
3-164764639-C-T |
c.1877G>A |
p.G626E |
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-G |
c.1825T>C |
p.W609R |
Missense |
16/48 |
- |
1 |
3-164764691-A-T |
c.1825T>A |
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-A |
c.1796C>T |
p.A599V |
Missense |
16/48 |
- |
1 |
3-164764720-G-C |
c.1796C>G |
p.A599G |
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-G |
c.1783G>C |
p.G595R |
Missense |
16/48 |
- |
1 |
3-164764733-C-T |
c.1783G>A |
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-C |
c.1712A>G |
p.E571G |
Missense |
15/48 |
- |
1 |
3-164766918-TC-CT |
c.1711_1712delinsAG |
p.E571R |
Missense |
15/48 |
- |
1 |
3-164766918-T-G |
c.1712A>C |
p.E571A |
Missense |
15/48 |
- |
2 |
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-C |
c.1644T>G |
p.A548= |
Synonymous |
15/48 |
- |
3 |
3-164766986-A-G |
c.1644T>C |
p.A548= |
Synonymous |
15/48 |
- |
3 |
3-164766986-A-T |
c.1644T>A |
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 |
3-164767018-G-GT |
c.1611dup |
p.L538Tfs*17 |
Frameshift |
15/48 |
- |
1 |
3-164767021-T-G |
c.1609A>C |
p.K537Q |
Missense |
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 |
3-164767586-A-C |
c.1590T>G |
p.F530L |
Missense |
14/48 |
- |
3 |
3-164767586-A-T |
c.1590T>A |
p.F530L |
Missense |
14/48 |
- |
3 |
3-164767588-A-G |
c.1588T>C |
p.F530L |
Missense |
14/48 |
- |
3 |
3-164767590-GG-TC |
c.1585_1586delinsGA |
p.P529E |
Missense |
14/48 |
- |
1 |
3-164767596-T-A |
c.1580A>T |
p.Y527F |
Missense |
14/48 |
- |
8 |
3-164767596-TA-GG |
c.1579_1580delinsCC |
p.Y527P |
Missense |
14/48 |
- |
1 |
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-AAG-CAT |
c.1504_1506delinsATG |
p.L502M |
Missense |
13/48 |
- |
1 |
3-164772988-A-C |
c.1506T>G |
p.L502= |
Synonymous |
13/48 |
- |
1 |
3-164772988-A-G |
c.1506T>C |
p.L502= |
Synonymous |
13/48 |
- |
1 |
3-164772988-A-T |
c.1506T>A |
p.L502= |
Synonymous |
13/48 |
- |
1 |
3-164772989-AG-GC |
c.1504_1505delinsGC |
p.L502A |
Missense |
13/48 |
- |
2 |
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 |
3-164772995-TC-CG |
c.1498_1499delinsCG |
p.D500R |
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-CCA |
c.1492_1494delinsTGG |
p.Q498W |
Missense |
13/48 |
- |
1 |
3-164773000-TTG-GTC |
c.1492_1494delinsGAC |
p.Q498D |
Missense |
13/48 |
- |
2 |
3-164773001-T-C |
c.1493A>G |
p.Q498R |
Missense |
13/48 |
- |
13 |
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-GC |
c.1492_1493delinsGC |
p.Q498A |
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-C |
c.1484A>G |
p.Q495R |
Missense |
13/48 |
- |
1 |
3-164773010-T-G |
c.1484A>C |
p.Q495P |
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-CTT |
c.1450_1452delinsAAG |
p.D484K |
Missense |
13/48 |
- |
2 |
3-164773042-ATC-TTA |
c.1450_1452delinsTAA |
p.D484* |
Nonsense |
13/48 |
- |
1 |
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-G-A |
c.1437C>T |
p.N479= |
Synonymous |
13/48 |
- |
1 |
3-164773057-GTT-TTG |
c.1435_1437delinsCAA |
p.N479Q |
Missense |
13/48 |
- |
1 |
3-164773058-TT-AG |
c.1435_1436delinsCT |
p.N479L |
Missense |
13/48 |
- |
1 |
3-164773060-AG-CC |
c.1433_1434delinsGG |
p.T478R |
Missense |
13/48 |
- |
3 |
3-164773060-AG-CT |
c.1433_1434inv |
p.T478K |
Missense |
13/48 |
- |
57 |
3-164773061-G-A |
c.1433C>T |
p.T478I |
Missense |
13/48 |
- |
4 |
3-164773061-GT-CA |
c.1432_1433delinsTG |
p.T478C |
Missense |
13/48 |
- |
1 |
3-164773062-T-C |
c.1432A>G |
p.T478A |
Missense |
13/48 |
- |
1 |
3-164773071-G-A |
c.1423C>T |
p.P475S |
Missense |
13/48 |
- |
1 |
3-164773071-G-C |
c.1423C>G |
p.P475A |
Missense |
13/48 |
- |
2 |
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-G |
c.1402T>C |
p.W468R |
Missense |
13/48 |
- |
1 |
3-164773092-A-T |
c.1402T>A |
p.W468R |
Missense |
13/48 |
- |
1 |
3-164773095-C-T |
c.1399G>A |
p.V467I |
Missense |
13/48 |
- |
1 |
3-164776751-C-A |
c.1398G>T |
p.E466D |
Missense |
12/48 |
- |
1 |
3-164776751-C-G |
c.1398G>C |
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-GC |
c.1378_1379delinsGC |
p.S460A |
Missense |
12/48 |
- |
1 |
3-164776770-CT-GG |
c.1378_1379delinsCC |
p.S460P |
Missense |
12/48 |
- |
1 |
3-164776772-TCC-GTT |
c.1375_1377delinsAAC |
p.G459N |
Missense |
12/48 |
- |
1 |
3-164776773-CC-GG |
c.1375_1376inv |
p.G459P |
Missense |
12/48 |
- |
1 |
3-164776773-C-T |
c.1376G>A |
p.G459E |
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-AG |
c.1363_1364delinsCT |
p.N455L |
Missense |
12/48 |
- |
1 |
3-164776785-TT-GC |
c.1363_1364delinsGC |
p.N455A |
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-A |
c.1345A>T |
p.T449S |
Missense |
12/48 |
- |
1 |
3-164776804-T-C |
c.1345A>G |
p.T449A |
Missense |
12/48 |
- |
2 |
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-T-A |
c.1331A>T |
p.Y444F |
Missense |
12/48 |
- |
3 |
3-164776818-TA-GC |
c.1330_1331delinsGC |
p.Y444A |
Missense |
12/48 |
- |
3 |
3-164776818-T-C |
c.1331A>G |
p.Y444C |
Missense |
12/48 |
- |
1 |
3-164776821-G-T |
c.1328C>A |
p.T443N |
Missense |
12/48 |
- |
1 |
3-164776821-GT-CC |
c.1327_1328delinsGG |
p.T443G |
Missense |
12/48 |
- |
1 |
3-164776822-T-C |
c.1327A>G |
p.T443A |
Missense |
12/48 |
- |
1 |
3-164776822-T-G |
c.1327A>C |
p.T443P |
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-G |
c.1297G>C |
p.G433R |
Missense |
12/48 |
- |
1 |
3-164776852-C-T |
c.1297G>A |
p.G433S |
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 |
3-164776956-C-T |
c.1278G>A |
p.L426= |
Synonymous |
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 |
3-164776959-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-A-T |
c.1271T>A |
p.I424N |
Missense |
11/48 |
- |
1 |
3-164776963-AT-CC |
c.1270_1271delinsGG |
p.I424G |
Missense |
11/48 |
- |
1 |
3-164776963-GA-G |
c.1271del |
p.I424Tfs*9 |
Frameshift |
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-TC-AA |
c.1249_1250delinsTT |
p.D417F |
Missense |
11/48 |
- |
1 |
3-164776984-T-G |
c.1250A>C |
p.D417A |
Missense |
11/48 |
- |
2 |
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-CCA |
c.1222_1224delinsTGG |
p.L408W |
Missense |
11/48 |
- |
1 |
3-164777010-GAG-TTA |
c.1222_1224delinsTAA |
p.L408* |
Nonsense |
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-G |
c.1219G>C |
p.G407R |
Missense |
11/48 |
- |
4 |
3-164777015-C-T |
c.1219G>A |
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 |
3-164777019-A-C |
c.1215T>G |
p.F405L |
Missense |
11/48 |
- |
2 |
3-164777019-A-T |
c.1215T>A |
p.F405L |
Missense |
11/48 |
- |
2 |
3-164777021-A-G |
c.1213T>C |
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-G-A |
c.1211C>T |
p.A404V |
Missense |
11/48 |
- |
1 |
3-164777023-G-C |
c.1211C>G |
p.A404G |
Missense |
11/48 |
- |
1 |
3-164777023-GC-AG |
c.1210_1211delinsCT |
p.A404L |
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-A |
c.1204C>T |
p.Q402* |
Nonsense |
11/48 |
- |
1 |
3-164777030-G-C |
c.1204C>G |
p.Q402E |
Missense |
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-GC |
c.1126_1127delinsGC |
p.R376A |
Missense |
10/48 |
- |
1 |
3-164777709-CG-GT |
c.1126_1127delinsAC |
p.R376T |
Missense |
10/48 |
- |
1 |
3-164777709-C-T |
c.1127G>A |
p.R376Q |
Missense |
10/48 |
- |
1 |
3-164777712-T-C |
c.1124A>G |
p.N375S |
Missense |
10/48 |
- |
1 |
3-164777712-TT-GC |
c.1123_1124delinsGC |
p.N375A |
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-T-A |
c.1106A>T |
p.K369I |
Missense |
10/48 |
- |
1 |
3-164777730-T-C |
c.1106A>G |
p.K369R |
Missense |
10/48 |
- |
1 |
3-164777730-TT-GC |
c.1105_1106delinsGC |
p.K369A |
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-CCA |
c.1072_1074delinsTGG |
p.S358W |
Missense |
10/48 |
- |
1 |
3-164777762-ACT-CTC |
c.1072_1074delinsGAG |
p.S358E |
Missense |
10/48 |
- |
2 |
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-AA-TG |
c.1063_1064delinsCA |
p.F355H |
Missense |
10/48 |
- |
1 |
3-164777772-A-C |
c.1064T>G |
p.F355C |
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-CA |
c.1057_1058delinsTG |
p.L353C |
Missense |
10/48 |
- |
1 |
3-164777778-AG-GC |
c.1057_1058delinsGC |
p.L353A |
Missense |
10/48 |
- |
1 |
3-164777778-AG-TC |
c.1057_1058delinsGA |
p.L353D |
Missense |
10/48 |
- |
2 |
3-164777779-AG-A |
c.1057del |
p.G354Dfs*4 |
Frameshift |
10/48 |
- |
1 |
3-164777779-G-A |
c.1057C>T |
p.L353F |
Missense |
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 |
3-164780186-TG-T |
c.992del |
p.P331Qfs*4 |
Frameshift |
9/48 |
- |
1 |
3-164780188-G-A |
c.991C>T |
p.P331S |
Missense |
9/48 |
- |
3 |
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-G |
c.982G>C |
p.G328R |
Missense |
9/48 |
- |
1 |
3-164780197-C-T |
c.982G>A |
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-AG |
c.970_971delinsCT |
p.Y324L |
Missense |
9/48 |
- |
1 |
3-164780208-TA-GC |
c.970_971delinsGC |
p.Y324A |
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-TC-CT |
c.964_965delinsAG |
p.D322S |
Missense |
9/48 |
- |
1 |
3-164780214-T-G |
c.965A>C |
p.D322A |
Missense |
9/48 |
- |
2 |
3-164780216-C-A |
c.963G>T |
p.L321= |
Synonymous |
9/48 |
- |
1 |
3-164780216-CAG-AAA |
c.961_963delinsTTT |
p.L321F |
Missense |
9/48 |
- |
2 |
3-164780216-C-G |
c.963G>C |
p.L321= |
Synonymous |
9/48 |
- |
1 |
3-164780216-C-T |
c.963G>A |
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-GC |
c.961_962delinsGC |
p.L321A |
Missense |
9/48 |
- |
1 |
3-164780217-AG-TC |
c.961_962delinsGA |
p.L321E |
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-GGT-G |
c.949_950del |
p.T317Rfs*46 |
Frameshift |
9/48 |
- |
1 |
3-164780229-GT-AG |
c.949_950delinsCT |
p.T317L |
Missense |
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-CT-AG |
c.943_944inv |
p.R315L |
Missense |
9/48 |
- |
1 |
3-164780235-CT-GC |
c.943_944delinsGC |
p.R315A |
Missense |
9/48 |
- |
1 |
3-164780235-TC-T |
c.944del |
p.R315Kfs*13 |
Frameshift |
9/48 |
- |
1 |
3-164780235-TCTA-T |
c.942_944del |
p.Y314_R315delins* |
MultiAAMissense |
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-C |
c.940T>G |
p.Y314D |
Missense |
9/48 |
- |
1 |
3-164780239-A-G |
c.940T>C |
p.Y314H |
Missense |
9/48 |
- |
2 |
3-164780240-T-A |
c.939A>T |
p.T313= |
Synonymous |
9/48 |
- |
1 |
3-164780240-T-C |
c.939A>G |
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-T-A |
c.920A>T |
p.Q307L |
Missense |
9/48 |
- |
1 |
3-164780259-TG-GT |
c.919_920delinsAC |
p.Q307T |
Missense |
9/48 |
- |
1 |
3-164780265-AA-GC |
c.913_914delinsGC |
p.F305A |
Missense |
9/48 |
- |
1 |
3-164780264-A-C |
c.915T>G |
p.F305L |
Missense |
9/48 |
- |
1 |
3-164780264-A-T |
c.915T>A |
p.F305L |
Missense |
9/48 |
- |
1 |
3-164780266-A-G |
c.913T>C |
p.F305L |
Missense |
9/48 |
- |
1 |
3-164780268-AT-GC |
c.910_911delinsGC |
p.I304A |
Missense |
9/48 |
- |
1 |
3-164781234-T-A |
c.903A>T |
p.A301= |
Synonymous |
8/48 |
- |
1 |
3-164781234-T-C |
c.903A>G |
p.A301= |
Synonymous |
8/48 |
- |
1 |
3-164781234-T-G |
c.903A>C |
p.A301= |
Synonymous |
8/48 |
- |
1 |
3-164781235-G-C |
c.902C>G |
p.A301G |
Missense |
8/48 |
- |
1 |
3-164781236-C-A |
c.901G>T |
p.A301S |
Missense |
8/48 |
- |
1 |
3-164781236-C-G |
c.901G>C |
p.A301P |
Missense |
8/48 |
- |
1 |
3-164781236-C-T |
c.901G>A |
p.A301T |
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-C-T |
c.896G>A |
p.S299N |
Missense |
8/48 |
- |
1 |
3-164781241-CT-GC |
c.895_896delinsGC |
p.S299A |
Missense |
8/48 |
- |
2 |
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 |
3-164781252-A-C |
c.885T>G |
p.F295L |
Missense |
8/48 |
- |
1 |
3-164781252-A-T |
c.885T>A |
p.F295L |
Missense |
8/48 |
- |
1 |
3-164781254-A-G |
c.883T>C |
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-A |
c.870G>T |
p.K290N |
Missense |
8/48 |
- |
1 |
3-164781267-C-G |
c.870G>C |
p.K290N |
Missense |
8/48 |
- |
1 |
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 |
3-164781268-TT-GC |
c.868_869delinsGC |
p.K290A |
Missense |
8/48 |
- |
6 |
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-AGATGTATCTT-A |
c.854_863del |
p.E285Vfs*9 |
Frameshift |
8/48 |
- |
1 |
3-164781274-GA-TG |
c.862_863delinsCA |
p.S288H |
Missense |
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 |
3-164781275-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-T-A |
c.857A>T |
p.D286V |
Missense |
8/48 |
- |
1 |
3-164781280-T-C |
c.857A>G |
p.D286G |
Missense |
8/48 |
- |
2 |
3-164781280-TC-CG |
c.856_857delinsCG |
p.D286R |
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-A |
c.853G>T |
p.E285* |
Nonsense |
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 |
3-164781286-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 |
3-164781289-C-G |
c.848G>C |
p.C283S |
Missense |
8/48 |
- |
1 |
3-164781290-A-T |
c.847T>A |
p.C283S |
Missense |
8/48 |
- |
1 |
3-164781291-C-G |
c.846G>C |
p.M282I |
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 |
3-164781293-T-G |
c.844A>C |
p.M282L |
Missense |
8/48 |
- |
1 |
3-164781294-AA-CC |
c.842_843delinsGG |
p.F281W |
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 |
3-164781295-A-T |
c.842T>A |
p.F281Y |
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-AA-CC |
c.820_821delinsGG |
p.L274G |
Missense |
8/48 |
- |
6 |
3-164781316-AA-GC |
c.820_821delinsGC |
p.L274A |
Missense |
8/48 |
- |
2 |
3-164781316-A-G |
c.821T>C |
p.L274S |
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-A |
c.814A>T |
p.N272Y |
Missense |
8/48 |
- |
1 |
3-164781323-T-C |
c.814A>G |
p.N272D |
Missense |
8/48 |
- |
1 |
3-164781324-A-C |
c.813T>G |
p.N271K |
Missense |
8/48 |
- |
1 |
3-164781324-A-T |
c.813T>A |
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-CC-GG |
c.802_803inv |
p.G268P |
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-C-T |
c.803G>A |
p.G268D |
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-AT |
c.787_788delinsAT |
p.R263I |
Missense |
7/48 |
- |
1 |
3-164783068-CG-TC |
c.787_788delinsGA |
p.R263E |
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-AA-GC |
c.781_782delinsGC |
p.F261A |
Missense |
7/48 |
- |
1 |
3-164783074-AA-GG |
c.781_782delinsCC |
p.F261P |
Missense |
7/48 |
- |
3 |
3-164783074-A-G |
c.782T>C |
p.F261S |
Missense |
7/48 |
- |
1 |
3-164783074-A-T |
c.782T>A |
p.F261Y |
Missense |
7/48 |
- |
4 |
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-G |
c.772T>C |
p.W258R |
Missense |
7/48 |
- |
1 |
3-164783084-A-T |
c.772T>A |
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-A |
c.754G>T |
p.D252Y |
Missense |
7/48 |
- |
1 |
3-164783102-C-T |
c.754G>A |
p.D252N |
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 |
3-164783109-A-C |
c.747T>G |
p.F249L |
Missense |
7/48 |
- |
1 |
3-164783109-A-T |
c.747T>A |
p.F249L |
Missense |
7/48 |
- |
1 |
3-164783111-A-G |
c.745T>C |
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-AG |
c.739_740delinsCT |
p.K247L |
Missense |
7/48 |
- |
1 |
3-164783116-TT-GC |
c.739_740delinsGC |
p.K247A |
Missense |
7/48 |
- |
1 |
3-164783118-A-C |
c.738T>G |
p.H246Q |
Missense |
7/48 |
- |
1 |
3-164783118-A-T |
c.738T>A |
p.H246Q |
Missense |
7/48 |
- |
1 |
3-164783119-TG-CA |
c.736_737inv |
p.H246C |
Missense |
7/48 |
- |
1 |
3-164783119-TG-GC |
c.736_737delinsGC |
p.H246A |
Missense |
7/48 |
- |
2 |
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-A |
c.733G>T |
p.V245F |
Missense |
7/48 |
- |
1 |
3-164783123-C-T |
c.733G>A |
p.V245I |
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-C |
c.728A>G |
p.E243G |
Missense |
7/48 |
- |
1 |
3-164783128-TC-GG |
c.727_728delinsCC |
p.E243P |
Missense |
7/48 |
- |
2 |
3-164783128-T-G |
c.728A>C |
p.E243A |
Missense |
7/48 |
- |
2 |
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-A-G |
c.722T>C |
p.I241T |
Missense |
7/48 |
- |
1 |
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 |
3-164783137-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-A |
c.718G>T |
p.G240C |
Missense |
7/48 |
- |
1 |
3-164783138-C-G |
c.718G>C |
p.G240R |
Missense |
7/48 |
- |
2 |
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-G |
c.706G>C |
p.D236H |
Missense |
7/48 |
- |
1 |
3-164783150-C-T |
c.706G>A |
p.D236N |
Missense |
7/48 |
- |
4 |
3-164783151-ACT-CTC |
c.703_705delinsGAG |
p.S235E |
Missense |
7/48 |
- |
1 |
3-164783151-A-G |
c.705T>C |
p.S235= |
Synonymous |
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-C-G |
c.684G>C |
p.Q228H |
Missense |
7/48 |
- |
1 |
3-164783172-CTG-ACA |
c.682_684delinsTGT |
p.Q228C |
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-T-A |
c.677A>T |
p.Y226F |
Missense |
7/48 |
- |
1 |
3-164783179-TA-GC |
c.676_677delinsGC |
p.Y226A |
Missense |
7/48 |
- |
2 |
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-C |
c.667T>G |
p.S223A |
Missense |
7/48 |
- |
1 |
3-164783189-A-G |
c.667T>C |
p.S223P |
Missense |
7/48 |
- |
1 |
3-164783189-A-T |
c.667T>A |
p.S223T |
Missense |
7/48 |
- |
2 |
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-ACA |
c.661_663delinsTGT |
p.V221C |
Missense |
7/48 |
- |
1 |
3-164783193-CAC-ATA |
c.661_663delinsTAT |
p.V221Y |
Missense |
7/48 |
- |
1 |
3-164783193-CAC-GAT |
c.661_663delinsATC |
p.V221I |
Missense |
7/48 |
- |
1 |
3-164783194-A-G |
c.662T>C |
p.V221A |
Missense |
7/48 |
- |
3 |
3-164783195-C-A |
c.661G>T |
p.V221L |
Missense |
7/48 |
- |
1 |
3-164783195-C-G |
c.661G>C |
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-G-C |
c.656C>G |
p.P219R |
Missense |
7/48 |
- |
1 |
3-164783200-GG-CA |
c.655_656delinsTG |
p.P219C |
Missense |
7/48 |
- |
1 |
3-164783200-GG-CC |
c.655_656inv |
p.P219G |
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-CA |
c.649_650delinsTG |
p.I217C |
Missense |
7/48 |
- |
4 |
3-164783206-AT-GG |
c.649_650delinsCC |
p.I217P |
Missense |
7/48 |
- |
1 |
3-164783208-G-A |
c.648C>T |
p.S216= |
Synonymous |
7/48 |
- |
1 |
3-164783209-CT-AA |
c.646_647delinsTT |
p.S216F |
Missense |
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 |
3-164783210-T-A |
c.646A>T |
p.S216C |
Missense |
7/48 |
- |
2 |
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 |
3-164783212-GT-TA |
c.643_644delinsTA |
p.T215Y |
Missense |
7/48 |
- |
16 |
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-C |
c.641A>G |
p.D214G |
Missense |
7/48 |
- |
1 |
3-164783215-TC-CA |
c.640_641delinsTG |
p.D214C |
Missense |
7/48 |
- |
1 |
3-164783215-TC-CG |
c.640_641delinsCG |
p.D214R |
Missense |
7/48 |
- |
2 |
3-164783215-T-G |
c.641A>C |
p.D214A |
Missense |
7/48 |
- |
5 |
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-AA-CG |
c.637_638delinsCG |
p.F213R |
Missense |
7/48 |
- |
1 |
3-164783218-A-G |
c.638T>C |
p.F213S |
Missense |
7/48 |
- |
1 |
3-164783218-A-T |
c.638T>A |
p.F213Y |
Missense |
7/48 |
- |
1 |
3-164783217-A-C |
c.639T>G |
p.F213L |
Missense |
7/48 |
- |
1 |
3-164783217-A-T |
c.639T>A |
p.F213L |
Missense |
7/48 |
- |
1 |
3-164783219-A-G |
c.637T>C |
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-T-A |
c.629A>T |
p.K210I |
Missense |
6/48 |
- |
1 |
3-164785134-T-C |
c.629A>G |
p.K210R |
Missense |
6/48 |
- |
1 |
3-164785134-TT-GC |
c.628_629delinsGC |
p.K210A |
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-C-T |
c.614G>A |
p.R205K |
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 |
3-164785151-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 |
3-164785179-GCAACCTTCACAT-G |
c.572_583del |
p.D191_V194del |
InFrameDeletion |
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 |
3-164785183-C-T |
c.580G>A |
p.V194I |
Missense |
6/48 |
- |
1 |
3-164785185-T-C |
c.578A>G |
p.K193R |
Missense |
6/48 |
- |
1 |
3-164785185-T-G |
c.578A>C |
p.K193T |
Missense |
6/48 |
- |
1 |
3-164785186-T-C |
c.577A>G |
p.K193E |
Missense |
6/48 |
- |
1 |
3-164785186-T-G |
c.577A>C |
p.K193Q |
Missense |
6/48 |
- |
1 |
3-164785187-C-A |
c.576G>T |
p.V192= |
Synonymous |
6/48 |
- |
1 |
3-164785187-C-G |
c.576G>C |
p.V192= |
Synonymous |
6/48 |
- |
1 |
3-164785187-C-T |
c.576G>A |
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-C-A |
c.564G>T |
p.T188= |
Synonymous |
6/48 |
- |
1 |
3-164785199-C-G |
c.564G>C |
p.T188= |
Synonymous |
6/48 |
- |
1 |
3-164785199-CG-GA |
c.563_564delinsTC |
p.T188I |
Missense |
6/48 |
- |
1 |
3-164785199-C-T |
c.564G>A |
p.T188= |
Synonymous |
6/48 |
- |
1 |
3-164785200-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-GA-TC |
c.556_557inv |
p.S186D |
Missense |
6/48 |
- |
1 |
3-164785206-GA-TT |
c.556_557delinsAA |
p.S186N |
Missense |
6/48 |
- |
1 |
3-164785206-G-C |
c.557C>G |
p.S186C |
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-AC-TT |
c.553_554delinsAA |
p.V185N |
Missense |
6/48 |
- |
1 |
3-164785209-A-G |
c.554T>C |
p.V185A |
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 |
3-164785223-A-C |
c.540T>G |
p.F180L |
Missense |
6/48 |
- |
1 |
3-164785223-A-T |
c.540T>A |
p.F180L |
Missense |
6/48 |
- |
1 |
3-164785225-A-G |
c.538T>C |
p.F180L |
Missense |
6/48 |
- |
1 |
3-164785226-CTC-ACA |
c.535_537delinsTGT |
p.E179C |
Missense |
6/48 |
- |
1 |
3-164785227-T-C |
c.536A>G |
p.E179G |
Missense |
6/48 |
- |
1 |
3-164785227-TC-GA |
c.535_536inv |
p.E179S |
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-T-A |
c.531A>T |
p.V177= |
Synonymous |
6/48 |
- |
1 |
3-164785232-TA-GT |
c.530_531delinsAC |
p.V177D |
Missense |
6/48 |
- |
1 |
3-164785232-T-C |
c.531A>G |
p.V177= |
Synonymous |
6/48 |
- |
1 |
3-164785232-T-G |
c.531A>C |
p.V177= |
Synonymous |
6/48 |
- |
1 |
3-164785233-AC-GT |
c.529_530inv |
p.V177T |
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 |
3-164785236-TA-AG |
c.526_527delinsCT |
p.Y176L |
Missense |
6/48 |
- |
1 |
3-164785236-T-C |
c.527A>G |
p.Y176C |
Missense |
6/48 |
- |
2 |
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-G |
c.516T>C |
p.V172= |
Synonymous |
6/48 |
- |
1 |
3-164785247-A-T |
c.516T>A |
p.V172= |
Synonymous |
6/48 |
- |
1 |
3-164785249-C-G |
c.514G>C |
p.V172L |
Missense |
6/48 |
- |
1 |
3-164785250-T-A |
c.513A>T |
p.E171D |
Missense |
6/48 |
- |
1 |
3-164785250-T-G |
c.513A>C |
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-A |
c.511G>T |
p.E171* |
Nonsense |
6/48 |
- |
1 |
3-164785252-C-G |
c.511G>C |
p.E171Q |
Missense |
6/48 |
- |
1 |
3-164785254-T-A |
c.509A>T |
p.Y170F |
Missense |
6/48 |
- |
1 |
3-164785254-T-C |
c.509A>G |
p.Y170C |
Missense |
6/48 |
- |
1 |
3-164785256-TCT-ACA |
c.505_507delinsTGT |
p.R169C |
Missense |
6/48 |
- |
5 |
3-164785257-C-T |
c.506G>A |
p.R169K |
Missense |
6/48 |
- |
1 |
3-164785257-CT-GC |
c.505_506delinsGC |
p.R169A |
Missense |
6/48 |
- |
4 |
3-164785257-CT-TC |
c.505_506delinsGA |
p.R169E |
Missense |
6/48 |
- |
2 |
3-164785257-CT-TG |
c.505_506delinsCA |
p.R169Q |
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-T-G |
c.497A>C |
p.N166T |
Missense |
6/48 |
- |
1 |
3-164785266-TT-GC |
c.496_497delinsGC |
p.N166A |
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-T-C |
c.482A>G |
p.K161R |
Missense |
5/48 |
- |
2 |
3-164786511-TT-GC |
c.481_482delinsGC |
p.K161A |
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 |
3-164786513-G-C |
c.480C>G |
p.F160L |
Missense |
5/48 |
- |
2 |
3-164786513-G-T |
c.480C>A |
p.F160L |
Missense |
5/48 |
- |
2 |
3-164786515-A-G |
c.478T>C |
p.F160L |
Missense |
5/48 |
- |
2 |
3-164786515-A-T |
c.478T>A |
p.F160I |
Missense |
5/48 |
- |
1 |
3-164786517-CG-AC |
c.475_476delinsGT |
p.R159V |
Missense |
5/48 |
- |
1 |
3-164786517-CG-GC |
c.475_476delinsGC |
p.R159A |
Missense |
5/48 |
- |
5 |
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-AC |
c.469_470delinsGT |
p.R157V |
Missense |
5/48 |
- |
1 |
3-164786523-CG-GC |
c.469_470delinsGC |
p.R157A |
Missense |
5/48 |
- |
4 |
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-TC |
c.448_449delinsGA |
p.T150D |
Missense |
5/48 |
- |
1 |
3-164786544-GT-TG |
c.448_449delinsCA |
p.T150H |
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-A-G |
c.440T>C |
p.L147P |
Missense |
5/48 |
- |
1 |
3-164786553-AG-CT |
c.439_440inv |
p.L147S |
Missense |
5/48 |
- |
1 |
3-164786553-AG-GT |
c.439_440delinsAC |
p.L147T |
Missense |
5/48 |
- |
1 |
3-164786553-AG-TC |
c.439_440delinsGA |
p.L147D |
Missense |
5/48 |
- |
2 |
3-164786554-G-A |
c.439C>T |
p.L147F |
Missense |
5/48 |
- |
1 |
3-164786555-A-C |
c.438T>G |
p.V146= |
Synonymous |
5/48 |
- |
1 |
3-164786555-A-G |
c.438T>C |
p.V146= |
Synonymous |
5/48 |
- |
1 |
3-164786555-A-T |
c.438T>A |
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-C-T |
c.434G>A |
p.S145N |
Missense |
5/48 |
- |
1 |
3-164786559-CT-GC |
c.433_434delinsGC |
p.S145A |
Missense |
5/48 |
- |
3 |
3-164786559-CT-TC |
c.433_434delinsGA |
p.S145D |
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-A-C |
c.428T>G |
p.I143S |
Missense |
5/48 |
- |
1 |
3-164786565-A-G |
c.428T>C |
p.I143T |
Missense |
5/48 |
- |
2 |
3-164786565-A-T |
c.428T>A |
p.I143N |
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 |
3-164786566-T-C |
c.427A>G |
p.I143V |
Missense |
5/48 |
- |
1 |
3-164786566-T-G |
c.427A>C |
p.I143L |
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-ACA |
c.418_420delinsTGT |
p.G140C |
Missense |
5/48 |
- |
1 |
3-164786573-TCC-ATA |
c.418_420delinsTAT |
p.G140Y |
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 |
3-164786574-CC-AG |
c.418_419delinsCT |
p.G140L |
Missense |
5/48 |
- |
1 |
3-164786574-C-G |
c.419G>C |
p.G140A |
Missense |
5/48 |
- |
2 |
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 |
3-164786576-A-C |
c.417T>G |
p.F139L |
Missense |
5/48 |
- |
1 |
3-164786576-A-T |
c.417T>A |
p.F139L |
Missense |
5/48 |
- |
1 |
3-164786578-A-G |
c.415T>C |
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-A |
c.397A>T |
p.I133L |
Missense |
5/48 |
- |
1 |
3-164786596-T-C |
c.397A>G |
p.I133V |
Missense |
5/48 |
- |
1 |
3-164786596-T-G |
c.397A>C |
p.I133L |
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 |
3-164786597-CCT-ATA |
c.394_396delinsTAT |
p.R132Y |
Missense |
5/48 |
- |
1 |
3-164786597-CCT-ATG |
c.394_396delinsCAT |
p.R132H |
Missense |
5/48 |
- |
3 |
3-164786598-C-A |
c.395G>T |
p.R132M |
Missense |
5/48 |
- |
1 |
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-CT-GC |
c.394_395delinsGC |
p.R132A |
Missense |
5/48 |
- |
4 |
3-164786598-CT-TG |
c.394_395delinsCA |
p.R132Q |
Missense |
5/48 |
- |
3 |
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-AC |
c.389_390delinsGT |
p.L130C |
Missense |
5/48 |
- |
1 |
3-164786603-TAA-GTC |
c.388_390delinsGAC |
p.L130D |
Missense |
5/48 |
- |
2 |
3-164786603-TA-CC |
c.389_390delinsGG |
p.L130W |
Missense |
5/48 |
- |
3 |
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-AA-GG |
c.388_389delinsCC |
p.L130P |
Missense |
5/48 |
- |
1 |
3-164786604-AA-TC |
c.388_389delinsGA |
p.L130E |
Missense |
5/48 |
- |
2 |
3-164786604-AA-TT |
c.388_389inv |
p.L130K |
Missense |
5/48 |
- |
1 |
3-164786604-A-C |
c.389T>G |
p.L130* |
Nonsense |
5/48 |
- |
1 |
3-164786604-A-G |
c.389T>C |
p.L130S |
Missense |
5/48 |
- |
2 |
3-164786604-A-T |
c.389T>A |
p.L130* |
Nonsense |
5/48 |
- |
1 |
3-164786606-TTT-ACA |
c.385_387delinsTGT |
p.K129C |
Missense |
5/48 |
- |
1 |
3-164786606-TTT-GTC |
c.385_387delinsGAC |
p.K129D |
Missense |
5/48 |
- |
1 |
3-164786607-TT-GC |
c.385_386delinsGC |
p.K129A |
Missense |
5/48 |
- |
1 |
3-164786608-T-A |
c.385A>T |
p.K129* |
Nonsense |
5/48 |
- |
1 |
3-164786608-T-C |
c.385A>G |
p.K129E |
Missense |
5/48 |
- |
1 |
3-164786610-G-A |
c.383C>T |
p.A128V |
Missense |
5/48 |
- |
1 |
3-164786610-G-C |
c.383C>G |
p.A128G |
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-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-TC-CT |
c.379_380delinsAG |
p.E127R |
Missense |
5/48 |
- |
1 |
3-164786613-T-G |
c.380A>C |
p.E127A |
Missense |
5/48 |
- |
3 |
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-C |
c.378T>G |
p.V126= |
Synonymous |
5/48 |
- |
1 |
3-164786615-A-G |
c.378T>C |
p.V126= |
Synonymous |
5/48 |
- |
1 |
3-164786615-A-T |
c.378T>A |
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-ACT-CTC |
c.367_369delinsGAG |
p.S123E |
Missense |
4/48 |
- |
1 |
3-164786870-A-T |
c.369T>A |
p.S123R |
Missense |
4/48 |
- |
1 |
3-164786871-C-T |
c.368G>A |
p.S123N |
Missense |
4/48 |
- |
1 |
3-164786871-CT-GC |
c.367_368delinsGC |
p.S123A |
Missense |
4/48 |
- |
3 |
3-164786872-T-C |
c.367A>G |
p.S123G |
Missense |
4/48 |
- |
1 |
3-164786871-CT-C |
c.367del |
p.S123Vfs*8 |
Frameshift |
4/48 |
- |
1 |
3-164786873-TG-GT |
c.365_366delinsAC |
p.T122N |
Missense |
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-T-C |
c.350A>G |
p.Q117R |
Missense |
4/48 |
- |
4 |
3-164786889-TG-GA |
c.349_350delinsTC |
p.Q117S |
Missense |
4/48 |
- |
1 |
3-164786889-TG-GC |
c.349_350delinsGC |
p.Q117A |
Missense |
4/48 |
- |
1 |
3-164786890-G-T |
c.349C>A |
p.Q117K |
Missense |
4/48 |
- |
1 |
3-164786891-A-C |
c.348T>G |
p.V116= |
Synonymous |
4/48 |
- |
1 |
3-164786891-A-G |
c.348T>C |
p.V116= |
Synonymous |
4/48 |
- |
1 |
3-164786891-A-T |
c.348T>A |
p.V116= |
Synonymous |
4/48 |
- |
1 |
3-164786892-AC-CA |
c.346_347delinsTG |
p.V116C |
Missense |
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 |
3-164786893-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-T-A |
c.341A>T |
p.Y114F |
Missense |
4/48 |
- |
2 |
3-164786898-TA-CG |
c.340_341delinsCG |
p.Y114R |
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 |
3-164786899-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-CT |
c.334_335delinsAG |
p.H112S |
Missense |
4/48 |
- |
1 |
3-164786904-TG-GC |
c.334_335delinsGC |
p.H112A |
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-CC |
c.331_332delinsGG |
p.N111G |
Missense |
4/48 |
- |
1 |
3-164786907-TT-GC |
c.331_332delinsGC |
p.N111A |
Missense |
4/48 |
- |
2 |
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-C |
c.327T>G |
p.V109= |
Synonymous |
4/48 |
- |
1 |
3-164786912-A-G |
c.327T>C |
p.V109= |
Synonymous |
4/48 |
- |
1 |
3-164786912-A-T |
c.327T>A |
p.V109= |
Synonymous |
4/48 |
- |
1 |
3-164786913-AC-CA |
c.325_326delinsTG |
p.V109C |
Missense |
4/48 |
- |
3 |
3-164786913-AC-GT |
c.325_326inv |
p.V109T |
Missense |
4/48 |
- |
1 |
3-164786913-AC-TG |
c.325_326delinsCA |
p.V109H |
Missense |
4/48 |
- |
1 |
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 |
3-164786915-G-A |
c.324C>T |
p.F108= |
Synonymous |
4/48 |
- |
1 |
3-164786916-A-T |
c.323T>A |
p.F108Y |
Missense |
4/48 |
- |
1 |
3-164786915-G-C |
c.324C>G |
p.F108L |
Missense |
4/48 |
- |
1 |
3-164786915-G-T |
c.324C>A |
p.F108L |
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 |
3-164786918-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 |
3-164786922-C-G |
c.317G>C |
p.C106S |
Missense |
4/48 |
- |
2 |
3-164786923-A-G |
c.316T>C |
p.C106R |
Missense |
4/48 |
- |
1 |
3-164786923-A-T |
c.316T>A |
p.C106S |
Missense |
4/48 |
- |
2 |
3-164786924-C-A |
c.315G>T |
p.W105C |
Missense |
4/48 |
- |
3 |
3-164786924-CC-AA |
c.314_315delinsTT |
p.W105F |
Missense |
4/48 |
- |
1 |
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-AGA-CTC |
c.301_303delinsGAG |
p.S101E |
Missense |
4/48 |
- |
1 |
3-164786936-A-T |
c.303T>A |
p.S101= |
Synonymous |
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-AG-A |
c.300del |
p.S101Lfs*19 |
Frameshift |
4/48 |
- |
1 |
3-164786939-G-A |
c.300C>T |
p.D100= |
Synonymous |
4/48 |
- |
1 |
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 |
3-164786940-T-C |
c.299A>G |
p.D100G |
Missense |
4/48 |
- |
3 |
3-164786940-TC-AT |
c.298_299delinsAT |
p.D100I |
Missense |
4/48 |
- |
1 |
3-164786940-TC-CT |
c.298_299delinsAG |
p.D100S |
Missense |
4/48 |
- |
1 |
3-164786940-T-G |
c.299A>C |
p.D100A |
Missense |
4/48 |
- |
4 |
3-164786941-C-T |
c.298G>A |
p.D100N |
Missense |
4/48 |
- |
3 |
3-164786943-T-C |
c.296A>G |
p.N99S |
Missense |
4/48 |
- |
1 |
3-164786943-TT-GC |
c.295_296delinsGC |
p.N99A |
Missense |
4/48 |
- |
2 |
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-C-T |
c.287G>A |
p.R96K |
Missense |
4/48 |
- |
2 |
3-164786952-CT-GC |
c.286_287delinsGC |
p.R96A |
Missense |
4/48 |
- |
5 |
3-164786952-CT-TC |
c.286_287delinsGA |
p.R96E |
Missense |
4/48 |
- |
1 |
3-164786952-CT-TG |
c.286_287delinsCA |
p.R96Q |
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-A |
c.282C>T |
p.C94= |
Synonymous |
4/48 |
- |
1 |
3-164786957-G-T |
c.282C>A |
p.C94* |
Nonsense |
4/48 |
- |
1 |
3-164786958-C-A |
c.281G>T |
p.C94F |
Missense |
4/48 |
- |
3 |
3-164786958-CA-GC |
c.280_281delinsGC |
p.C94A |
Missense |
4/48 |
- |
2 |
3-164786958-C-T |
c.281G>A |
p.C94Y |
Missense |
4/48 |
- |
1 |
3-164786958-C-G |
c.281G>C |
p.C94S |
Missense |
4/48 |
- |
2 |
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 |
3-164786960-GCA-CTT |
c.277_279delinsAAG |
p.C93K |
Missense |
4/48 |
- |
1 |
3-164786960-G-T |
c.279C>A |
p.C93* |
Nonsense |
4/48 |
- |
2 |
3-164786961-CA-GC |
c.277_278delinsGC |
p.C93A |
Missense |
4/48 |
- |
6 |
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 |
3-164786962-A-T |
c.277T>A |
p.C93S |
Missense |
4/48 |
- |
2 |
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-T-A |
c.273A>T |
p.R91S |
Missense |
4/48 |
- |
1 |
3-164786966-TCT-ACA |
c.271_273delinsTGT |
p.R91C |
Missense |
4/48 |
- |
3 |
3-164786966-TCT-ATG |
c.271_273delinsCAT |
p.R91H |
Missense |
4/48 |
- |
1 |
3-164786966-TCT-CCA |
c.271_273delinsTGG |
p.R91W |
Missense |
4/48 |
- |
4 |
3-164786966-TCT-GTC |
c.271_273delinsGAC |
p.R91D |
Missense |
4/48 |
- |
2 |
3-164786966-T-G |
c.273A>C |
p.R91S |
Missense |
4/48 |
- |
1 |
3-164786967-C-T |
c.272G>A |
p.R91K |
Missense |
4/48 |
- |
2 |
3-164786967-CT-AG |
c.271_272inv |
p.R91L |
Missense |
4/48 |
- |
1 |
3-164786967-CT-GC |
c.271_272delinsGC |
p.R91A |
Missense |
4/48 |
- |
5 |
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-AAA |
c.268_270delinsTTT |
p.Q90F |
Missense |
4/48 |
- |
1 |
3-164786969-CTG-GAT |
c.268_270delinsATC |
p.Q90I |
Missense |
4/48 |
- |
1 |
3-164786969-CTG-GTC |
c.268_270delinsGAC |
p.Q90D |
Missense |
4/48 |
- |
2 |
3-164786970-T-A |
c.269A>T |
p.Q90L |
Missense |
4/48 |
- |
1 |
3-164786970-T-G |
c.269A>C |
p.Q90P |
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-TG-GC |
c.268_269delinsGC |
p.Q90A |
Missense |
4/48 |
- |
2 |
3-164786971-G-A |
c.268C>T |
p.Q90* |
Nonsense |
4/48 |
- |
1 |
3-164786972-T-A |
c.267A>T |
p.A89= |
Synonymous |
4/48 |
- |
5 |
3-164786972-T-C |
c.267A>G |
p.A89= |
Synonymous |
4/48 |
- |
5 |
3-164786972-T-G |
c.267A>C |
p.A89= |
Synonymous |
4/48 |
- |
5 |
3-164786972-TGC-AAA |
c.265_267delinsTTT |
p.A89F |
Missense |
4/48 |
- |
5 |
3-164786972-TGC-ACA |
c.265_267delinsTGT |
p.A89C |
Missense |
4/48 |
- |
4 |
3-164786972-TG-GT |
c.266_267delinsAC |
p.A89D |
Missense |
4/48 |
- |
3 |
3-164786973-G-A |
c.266C>T |
p.A89V |
Missense |
4/48 |
- |
1 |
3-164786973-GC-AT |
c.265_266delinsAT |
p.A89I |
Missense |
4/48 |
- |
1 |
3-164786973-GC-TT |
c.265_266delinsAA |
p.A89K |
Missense |
4/48 |
- |
2 |
3-164786973-G-T |
c.266C>A |
p.A89E |
Missense |
4/48 |
- |
6 |
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-ACA-CTT |
c.262_264delinsAAG |
p.C88K |
Missense |
4/48 |
- |
1 |
3-164786975-A-G |
c.264T>C |
p.C88= |
Synonymous |
4/48 |
- |
1 |
3-164786976-C-A |
c.263G>T |
p.C88F |
Missense |
4/48 |
- |
2 |
3-164786976-CA-GC |
c.262_263delinsGC |
p.C88A |
Missense |
4/48 |
- |
3 |
3-164786976-CA-GT |
c.262_263delinsAC |
p.C88T |
Missense |
4/48 |
- |
1 |
3-164786976-CA-TC |
c.262_263delinsGA |
p.C88D |
Missense |
4/48 |
- |
2 |
3-164786976-CA-TG |
c.262_263inv |
p.C88H |
Missense |
4/48 |
- |
1 |
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 |
3-164786977-A-T |
c.262T>A |
p.C88S |
Missense |
4/48 |
- |
3 |
3-164786979-A-G |
c.260T>C |
p.I87T |
Missense |
4/48 |
- |
1 |
3-164786979-AT-GC |
c.259_260delinsGC |
p.I87A |
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-G |
c.256G>C |
p.G86R |
Missense |
4/48 |
- |
1 |
3-164786983-C-T |
c.256G>A |
p.G86R |
Missense |
4/48 |
- |
1 |
3-164792319-C-A |
c.255G>T |
p.E85D |
Missense |
3/48 |
- |
3 |
3-164792319-C-G |
c.255G>C |
p.E85D |
Missense |
3/48 |
- |
3 |
3-164792319-CTC-AAA |
c.253_255delinsTTT |
p.E85F |
Missense |
3/48 |
- |
2 |
3-164792320-T-C |
c.254A>G |
p.E85G |
Missense |
3/48 |
- |
1 |
3-164792320-T-G |
c.254A>C |
p.E85A |
Missense |
3/48 |
- |
5 |
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-GT-AC |
c.250_251inv |
p.T84V |
Missense |
3/48 |
- |
1 |
3-164792323-TG-T |
c.251del |
p.T84Kfs*36 |
Frameshift |
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-CC |
c.244_245delinsGG |
p.F82G |
Missense |
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 |
3-164792330-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-T-A |
c.242A>T |
p.Q81L |
Missense |
3/48 |
- |
2 |
3-164792332-TG-AT |
c.241_242delinsAT |
p.Q81I |
Missense |
3/48 |
- |
1 |
3-164792334-T-A |
c.240A>T |
p.E80D |
Missense |
3/48 |
- |
1 |
3-164792334-T-G |
c.240A>C |
p.E80D |
Missense |
3/48 |
- |
1 |
3-164792334-TTC-ACA |
c.238_240delinsTGT |
p.E80C |
Missense |
3/48 |
- |
1 |
3-164792335-TC-AT |
c.238_239delinsAT |
p.E80I |
Missense |
3/48 |
- |
1 |
3-164792335-TC-GA |
c.238_239inv |
p.E80S |
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-AC |
c.229_230delinsGT |
p.C77V |
Missense |
3/48 |
- |
2 |
3-164792344-CA-GC |
c.229_230delinsGC |
p.C77A |
Missense |
3/48 |
- |
5 |
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 |
3-164792344-C-G |
c.230G>C |
p.C77S |
Missense |
3/48 |
- |
3 |
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 |
3-164792347-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-A |
c.223A>T |
p.I75L |
Missense |
3/48 |
- |
1 |
3-164792351-T-G |
c.223A>C |
p.I75L |
Missense |
3/48 |
- |
1 |
3-164792352-TCT-ACA |
c.220_222delinsTGT |
p.R74C |
Missense |
3/48 |
- |
1 |
3-164792353-C-T |
c.221G>A |
p.R74K |
Missense |
3/48 |
- |
1 |
3-164792353-CT-GC |
c.220_221delinsGC |
p.R74A |
Missense |
3/48 |
- |
7 |
3-164792353-CT-GG |
c.220_221delinsCC |
p.R74P |
Missense |
3/48 |
- |
3 |
3-164792353-CT-TC |
c.220_221delinsGA |
p.R74E |
Missense |
3/48 |
- |
1 |
3-164792354-T-C |
c.220A>G |
p.R74G |
Missense |
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 |
3-164792355-CA-GT |
c.218_219delinsAC |
p.V73D |
Missense |
3/48 |
- |
1 |
3-164792355-C-G |
c.219G>C |
p.V73= |
Synonymous |
3/48 |
- |
1 |
3-164792355-C-T |
c.219G>A |
p.V73= |
Synonymous |
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-G-A |
c.213C>T |
p.V71= |
Synonymous |
3/48 |
- |
1 |
3-164792361-GAC-CAT |
c.211_213delinsATG |
p.V71M |
Missense |
3/48 |
- |
1 |
3-164792361-GA-CT |
c.212_213delinsAG |
p.V71E |
Missense |
3/48 |
- |
1 |
3-164792361-G-C |
c.213C>G |
p.V71= |
Synonymous |
3/48 |
- |
1 |
3-164792361-G-T |
c.213C>A |
p.V71= |
Synonymous |
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-A |
c.208C>T |
p.P70S |
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 |
3-164792367-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-CA |
c.202_203delinsTG |
p.N68C |
Missense |
3/48 |
- |
1 |
3-164792371-TT-GC |
c.202_203delinsGC |
p.N68A |
Missense |
3/48 |
- |
2 |
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-TA-CC |
c.200_201delinsGG |
p.L67W |
Missense |
3/48 |
- |
1 |
3-164792373-T-G |
c.201A>C |
p.L67F |
Missense |
3/48 |
- |
3 |
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-C-A |
c.198G>T |
p.V66= |
Synonymous |
3/48 |
- |
1 |
3-164792376-CAC-ACA |
c.196_198delinsTGT |
p.V66C |
Missense |
3/48 |
- |
1 |
3-164792376-CAC-GAT |
c.196_198delinsATC |
p.V66I |
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-C-G |
c.198G>C |
p.V66= |
Synonymous |
3/48 |
- |
1 |
3-164792376-C-T |
c.198G>A |
p.V66= |
Synonymous |
3/48 |
- |
1 |
3-164792377-AC-GT |
c.196_197inv |
p.V66T |
Missense |
3/48 |
- |
1 |
3-164792377-AC-TG |
c.196_197delinsCA |
p.V66Q |
Missense |
3/48 |
- |
1 |
3-164792377-AC-TT |
c.196_197delinsAA |
p.V66K |
Missense |
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 |
3-164792378-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-G-C |
c.191C>G |
p.P64R |
Missense |
3/48 |
- |
1 |
3-164792383-GG-CC |
c.190_191inv |
p.P64G |
Missense |
3/48 |
- |
1 |
3-164792383-GG-TT |
c.190_191delinsAA |
p.P64K |
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-CA-AC |
c.187_188delinsGT |
p.C63V |
Missense |
3/48 |
- |
1 |
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-C-G |
c.188G>C |
p.C63S |
Missense |
3/48 |
- |
2 |
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-A |
c.186A>T |
p.K62N |
Missense |
3/48 |
- |
1 |
3-164792388-T-G |
c.186A>C |
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-A |
c.184A>T |
p.K62* |
Nonsense |
3/48 |
- |
1 |
3-164792390-T-C |
c.184A>G |
p.K62E |
Missense |
3/48 |
- |
1 |
3-164792390-T-G |
c.184A>C |
p.K62Q |
Missense |
3/48 |
- |
1 |
3-164792391-T-G |
c.183A>C |
p.G61= |
Synonymous |
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 |
3-164792392-C-G |
c.182G>C |
p.G61A |
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-A-C |
c.177T>G |
p.D59E |
Missense |
3/48 |
- |
3 |
3-164792397-A-T |
c.177T>A |
p.D59E |
Missense |
3/48 |
- |
3 |
3-164792397-ATC-TTG |
c.175_177delinsCAA |
p.D59Q |
Missense |
3/48 |
- |
1 |
3-164792398-TC-CA |
c.175_176delinsTG |
p.D59C |
Missense |
3/48 |
- |
4 |
3-164792398-TC-CT |
c.175_176delinsAG |
p.D59S |
Missense |
3/48 |
- |
1 |
3-164792398-T-G |
c.176A>C |
p.D59A |
Missense |
3/48 |
- |
6 |
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-G-A |
c.170C>T |
p.P57L |
Missense |
3/48 |
- |
2 |
3-164792404-GG-CA |
c.169_170delinsTG |
p.P57C |
Missense |
3/48 |
- |
1 |
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-A |
c.165A>T |
p.T55= |
Synonymous |
3/48 |
- |
1 |
3-164792409-T-C |
c.165A>G |
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-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-CA |
c.161_162delinsTG |
p.T54M |
Missense |
3/48 |
- |
1 |
3-164792412-AG-CC |
c.161_162delinsGG |
p.T54R |
Missense |
3/48 |
- |
2 |
3-164792412-A-T |
c.162T>A |
p.T54= |
Synonymous |
3/48 |
- |
2 |
3-164792413-G-A |
c.161C>T |
p.T54I |
Missense |
3/48 |
- |
1 |
3-164792413-GT-AC |
c.160_161inv |
p.T54V |
Missense |
3/48 |
- |
5 |
3-164792413-GT-AG |
c.160_161delinsCT |
p.T54L |
Missense |
3/48 |
- |
1 |
3-164792413-GT-CA |
c.160_161delinsTG |
p.T54C |
Missense |
3/48 |
- |
2 |
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-A |
c.159G>T |
p.V53= |
Synonymous |
3/48 |
- |
1 |
3-164792415-C-G |
c.159G>C |
p.V53= |
Synonymous |
3/48 |
- |
1 |
3-164792415-C-T |
c.159G>A |
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-CG-GC |
c.154_155delinsGC |
p.R52A |
Missense |
3/48 |
- |
4 |
3-164792419-C-T |
c.155G>A |
p.R52H |
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-G-A |
c.152C>T |
p.T51I |
Missense |
3/48 |
- |
1 |
3-164792422-GT-AA |
c.151_152delinsTT |
p.T51F |
Missense |
3/48 |
- |
1 |
3-164792422-GT-AC |
c.151_152inv |
p.T51V |
Missense |
3/48 |
- |
3 |
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 |
3-164792424-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 |
3-164792424-A-T |
c.150T>A |
p.T50= |
Synonymous |
3/48 |
- |
2 |
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 |
3-164792425-GT-AC |
c.148_149inv |
p.T50V |
Missense |
3/48 |
- |
1 |
3-164792425-GT-CA |
c.148_149delinsTG |
p.T50C |
Missense |
3/48 |
- |
1 |
3-164792426-T-A |
c.148A>T |
p.T50S |
Missense |
3/48 |
- |
1 |
3-164792426-T-C |
c.148A>G |
p.T50A |
Missense |
3/48 |
- |
3 |
3-164792427-A-C |
c.147T>G |
p.A49= |
Synonymous |
3/48 |
- |
7 |
3-164792427-A-G |
c.147T>C |
p.A49= |
Synonymous |
3/48 |
- |
7 |
3-164792427-AG-CT |
c.146_147inv |
p.A49E |
Missense |
3/48 |
- |
7 |
3-164792427-A-T |
c.147T>A |
p.A49= |
Synonymous |
3/48 |
- |
7 |
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-T |
c.146C>A |
p.A49D |
Missense |
3/48 |
- |
4 |
3-164792428-G-GC |
c.145dup |
p.A49Gfs*11 |
Frameshift |
3/48 |
- |
1 |
3-164792430-TG-AT |
c.143_144delinsAT |
p.P48H |
Missense |
3/48 |
- |
1 |
3-164792430-T-TAA |
c.143_144insTT |
p.A49* |
Nonsense |
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-G-A |
c.140C>T |
p.T47I |
Missense |
3/48 |
- |
1 |
3-164792434-G-C |
c.140C>G |
p.T47S |
Missense |
3/48 |
- |
1 |
3-164792434-GT-CA |
c.139_140delinsTG |
p.T47C |
Missense |
3/48 |
- |
1 |
3-164792434-GT-TC |
c.139_140delinsGA |
p.T47D |
Missense |
3/48 |
- |
248 |
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-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-AA |
c.137_138delinsTT |
p.S46F |
Missense |
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 |
3-164792436-TG-AT |
c.137_138delinsAT |
p.S46Y |
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-A-C |
c.135T>G |
p.T45= |
Synonymous |
3/48 |
- |
1 |
3-164792439-A-G |
c.135T>C |
p.T45= |
Synonymous |
3/48 |
- |
1 |
3-164792439-AG-CA |
c.134_135delinsTG |
p.T45M |
Missense |
3/48 |
- |
1 |
3-164792439-AGT-CCA |
c.133_135delinsTGG |
p.T45W |
Missense |
3/48 |
- |
1 |
3-164792439-A-T |
c.135T>A |
p.T45= |
Synonymous |
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 |
3-164792440-GT-CA |
c.133_134delinsTG |
p.T45C |
Missense |
3/48 |
- |
2 |
3-164792440-GT-TG |
c.133_134delinsCA |
p.T45H |
Missense |
3/48 |
- |
1 |
3-164792441-T-A |
c.133A>T |
p.T45S |
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-AGA-CTC |
c.130_132delinsGAG |
p.S44E |
Missense |
3/48 |
- |
1 |
3-164792442-A-T |
c.132T>A |
p.S44= |
Synonymous |
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-ACT-CTC |
c.124_126delinsGAG |
p.S42E |
Missense |
3/48 |
- |
1 |
3-164792448-A-G |
c.126T>C |
p.S42= |
Synonymous |
3/48 |
- |
1 |
3-164792449-C-G |
c.125G>C |
p.S42T |
Missense |
3/48 |
- |
1 |
3-164792449-CT-GC |
c.124_125delinsGC |
p.S42A |
Missense |
3/48 |
- |
5 |
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-A |
c.120A>T |
p.E40D |
Missense |
3/48 |
- |
3 |
3-164792454-T-G |
c.120A>C |
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-G |
c.117T>C |
p.D39= |
Synonymous |
2/48 |
- |
1 |
3-164793684-A-T |
c.117T>A |
p.D39E |
Missense |
2/48 |
- |
1 |
3-164793684-ATC-TTA |
c.115_117delinsTAA |
p.D39* |
Nonsense |
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 |
3-164793685-TC-CA |
c.115_116delinsTG |
p.D39C |
Missense |
2/48 |
- |
1 |
3-164793685-T-G |
c.116A>C |
p.D39A |
Missense |
2/48 |
- |
7 |
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-C |
c.114T>G |
p.V38= |
Synonymous |
2/48 |
- |
1 |
3-164793687-A-G |
c.114T>C |
p.V38= |
Synonymous |
2/48 |
- |
1 |
3-164793687-A-T |
c.114T>A |
p.V38= |
Synonymous |
2/48 |
- |
1 |
3-164793688-AC-CT |
c.112_113delinsAG |
p.V38S |
Missense |
2/48 |
- |
1 |
3-164793688-A-G |
c.113T>C |
p.V38A |
Missense |
2/48 |
- |
6 |
3-164793689-C-T |
c.112G>A |
p.V38I |
Missense |
2/48 |
- |
1 |
3-164793690-A-C |
c.111T>G |
p.A37= |
Synonymous |
2/48 |
- |
5 |
3-164793690-A-G |
c.111T>C |
p.A37= |
Synonymous |
2/48 |
- |
5 |
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 |
3-164793691-G-C |
c.110C>G |
p.A37G |
Missense |
2/48 |
- |
5 |
3-164793691-GC-AA |
c.109_110delinsTT |
p.A37F |
Missense |
2/48 |
- |
1 |
3-164793691-GC-AG |
c.109_110delinsCT |
p.A37L |
Missense |
2/48 |
- |
1 |
3-164793691-GC-CA |
c.109_110delinsTG |
p.A37C |
Missense |
2/48 |
- |
5 |
3-164793691-G-T |
c.110C>A |
p.A37D |
Missense |
2/48 |
- |
3 |
3-164793693-A-C |
c.108T>G |
p.P36= |
Synonymous |
2/48 |
- |
1 |
3-164793693-A-G |
c.108T>C |
p.P36= |
Synonymous |
2/48 |
- |
1 |
3-164793693-A-T |
c.108T>A |
p.P36= |
Synonymous |
2/48 |
- |
1 |
3-164793694-G-C |
c.107C>G |
p.P36R |
Missense |
2/48 |
- |
1 |
3-164793694-GG-CA |
c.106_107delinsTG |
p.P36C |
Missense |
2/48 |
- |
1 |
3-164793696-TG-GT |
c.104_105delinsAC |
p.T35N |
Missense |
2/48 |
- |
1 |
3-164793696-TGT-ACA |
c.103_105inv |
p.T35C |
Missense |
2/48 |
- |
2 |
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-A |
c.103A>T |
p.T35S |
Missense |
2/48 |
- |
10 |
3-164793698-T-C |
c.103A>G |
p.T35A |
Missense |
2/48 |
- |
7 |
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-C |
c.99T>G |
p.T33= |
Synonymous |
2/48 |
- |
1 |
3-164793702-A-G |
c.99T>C |
p.T33= |
Synonymous |
2/48 |
- |
1 |
3-164793702-A-T |
c.99T>A |
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-T-A |
c.96A>T |
p.A32= |
Synonymous |
2/48 |
- |
9 |
3-164793705-T-C |
c.96A>G |
p.A32= |
Synonymous |
2/48 |
- |
9 |
3-164793705-T-G |
c.96A>C |
p.A32= |
Synonymous |
2/48 |
- |
9 |
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-ATA |
c.94_96delinsTAT |
p.A32Y |
Missense |
2/48 |
- |
2 |
3-164793705-TGC-ATG |
c.94_96delinsCAT |
p.A32H |
Missense |
2/48 |
- |
1 |
3-164793705-TGC-CCA |
c.94_96delinsTGG |
p.A32W |
Missense |
2/48 |
- |
2 |
3-164793705-TGC-GTT |
c.94_96delinsAAC |
p.A32N |
Missense |
2/48 |
- |
1 |
3-164793705-TG-GT |
c.95_96delinsAC |
p.A32D |
Missense |
2/48 |
- |
11 |
3-164793706-G-A |
c.95C>T |
p.A32V |
Missense |
2/48 |
- |
1 |
3-164793706-G-C |
c.95C>G |
p.A32G |
Missense |
2/48 |
- |
2 |
3-164793706-GC-AT |
c.94_95delinsAT |
p.A32I |
Missense |
2/48 |
- |
1 |
3-164793706-GC-CT |
c.94_95delinsAG |
p.A32R |
Missense |
2/48 |
- |
1 |
3-164793706-G-T |
c.95C>A |
p.A32E |
Missense |
2/48 |
- |
9 |
3-164793707-C-A |
c.94G>T |
p.A32S |
Missense |
2/48 |
- |
1 |
3-164793708-TAA-CAT |
c.91_93delinsATG |
p.L31M |
Missense |
2/48 |
- |
1 |
3-164793708-TA-CC |
c.92_93delinsGG |
p.L31W |
Missense |
2/48 |
- |
1 |
3-164793709-AA-CC |
c.91_92delinsGG |
p.L31G |
Missense |
2/48 |
- |
1 |
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 |
3-164793709-AA-TC |
c.91_92delinsGA |
p.L31E |
Missense |
2/48 |
- |
3 |
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-A-C |
c.86T>G |
p.V29G |
Missense |
2/48 |
- |
1 |
3-164793715-AC-CA |
c.85_86delinsTG |
p.V29C |
Missense |
2/48 |
- |
1 |
3-164793715-AC-TA |
c.85_86delinsTA |
p.V29Y |
Missense |
2/48 |
- |
1 |
3-164793715-AC-TG |
c.85_86delinsCA |
p.V29H |
Missense |
2/48 |
- |
1 |
3-164793715-AC-TT |
c.85_86delinsAA |
p.V29N |
Missense |
2/48 |
- |
1 |
3-164793715-A-G |
c.86T>C |
p.V29A |
Missense |
2/48 |
- |
1 |
3-164793716-C-A |
c.85G>T |
p.V29F |
Missense |
2/48 |
- |
1 |
3-164793716-C-G |
c.85G>C |
p.V29L |
Missense |
2/48 |
- |
1 |
3-164793716-C-T |
c.85G>A |
p.V29I |
Missense |
2/48 |
- |
3 |
3-164793717-AA-CT |
c.83_84delinsAG |
p.I28K |
Missense |
2/48 |
- |
1 |
3-164793718-A-C |
c.83T>G |
p.I28S |
Missense |
2/48 |
- |
1 |
3-164793718-A-G |
c.83T>C |
p.I28T |
Missense |
2/48 |
- |
1 |
3-164793718-A-T |
c.83T>A |
p.I28N |
Missense |
2/48 |
- |
1 |
3-164793718-AT-CC |
c.82_83delinsGG |
p.I28G |
Missense |
2/48 |
- |
1 |
3-164793718-AT-GC |
c.82_83delinsGC |
p.I28A |
Missense |
2/48 |
- |
5 |
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-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 |
3-164793720-T-G |
c.81A>C |
p.L27F |
Missense |
2/48 |
- |
2 |
3-164793721-AA-CT |
c.79_80delinsAG |
p.L27R |
Missense |
2/48 |
- |
1 |
3-164793721-AA-GC |
c.79_80delinsGC |
p.L27A |
Missense |
2/48 |
- |
3 |
3-164793721-AA-TC |
c.79_80delinsGA |
p.L27E |
Missense |
2/48 |
- |
2 |
3-164793721-A-G |
c.80T>C |
p.L27S |
Missense |
2/48 |
- |
2 |
3-164793723-G-A |
c.78C>T |
p.A26= |
Synonymous |
2/48 |
- |
2 |
3-164793723-G-C |
c.78C>G |
p.A26= |
Synonymous |
2/48 |
- |
2 |
3-164793723-GGC-CTT |
c.76_78delinsAAG |
p.A26K |
Missense |
2/48 |
- |
1 |
3-164793723-GG-CT |
c.77_78delinsAG |
p.A26E |
Missense |
2/48 |
- |
2 |
3-164793723-G-T |
c.78C>A |
p.A26= |
Synonymous |
2/48 |
- |
2 |
3-164793724-G-A |
c.77C>T |
p.A26V |
Missense |
2/48 |
- |
1 |
3-164793724-G-C |
c.77C>G |
p.A26G |
Missense |
2/48 |
- |
3 |
3-164793724-GC-AA |
c.76_77delinsTT |
p.A26F |
Missense |
2/48 |
- |
7 |
3-164793724-GC-AG |
c.76_77delinsCT |
p.A26L |
Missense |
2/48 |
- |
2 |
3-164793724-GC-CA |
c.76_77delinsTG |
p.A26C |
Missense |
2/48 |
- |
5 |
3-164793725-C-T |
c.76G>A |
p.A26T |
Missense |
2/48 |
- |
3 |
3-164793726-AA-CC |
c.74_75delinsGG |
p.I25R |
Missense |
2/48 |
- |
1 |
3-164793726-AAT-TTA |
c.73_75delinsTAA |
p.I25* |
Nonsense |
2/48 |
- |
1 |
3-164793727-A-C |
c.74T>G |
p.I25S |
Missense |
2/48 |
- |
1 |
3-164793727-AT-CA |
c.73_74delinsTG |
p.I25C |
Missense |
2/48 |
- |
1 |
3-164793727-AT-GC |
c.73_74delinsGC |
p.I25A |
Missense |
2/48 |
- |
3 |
3-164793729-A-C |
c.72T>G |
p.A24= |
Synonymous |
2/48 |
- |
4 |
3-164793729-A-G |
c.72T>C |
p.A24= |
Synonymous |
2/48 |
- |
4 |
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 |
3-164793730-G-A |
c.71C>T |
p.A24V |
Missense |
2/48 |
- |
1 |
3-164793730-GC-AA |
c.70_71delinsTT |
p.A24F |
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-GC-TG |
c.70_71delinsCA |
p.A24H |
Missense |
2/48 |
- |
5 |
3-164793730-G-T |
c.71C>A |
p.A24D |
Missense |
2/48 |
- |
5 |
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-CC |
c.67_68delinsGG |
p.I23G |
Missense |
2/48 |
- |
1 |
3-164793733-AT-GC |
c.67_68delinsGC |
p.I23A |
Missense |
2/48 |
- |
1 |
3-164793734-T-C |
c.67A>G |
p.I23V |
Missense |
2/48 |
- |
1 |
3-164793735-TA-GT |
c.65_66delinsAC |
p.I22N |
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 |
3-164793736-A-G |
c.65T>C |
p.I22T |
Missense |
2/48 |
- |
1 |
3-164793736-AT-GC |
c.64_65delinsGC |
p.I22A |
Missense |
2/48 |
- |
2 |
3-164793736-AT-TC |
c.64_65delinsGA |
p.I22E |
Missense |
2/48 |
- |
1 |
3-164793737-T-A |
c.64A>T |
p.I22L |
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 |
3-164793738-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-G-A |
c.62C>T |
p.T21I |
Missense |
2/48 |
- |
1 |
3-164793739-G-T |
c.62C>A |
p.T21N |
Missense |
2/48 |
- |
4 |
3-164793739-GT-AG |
c.61_62delinsCT |
p.T21L |
Missense |
2/48 |
- |
1 |
3-164793739-GT-CA |
c.61_62delinsTG |
p.T21C |
Missense |
2/48 |
- |
1 |
3-164793739-GT-TC |
c.61_62delinsGA |
p.T21D |
Missense |
2/48 |
- |
2 |
3-164793740-T-C |
c.61A>G |
p.T21A |
Missense |
2/48 |
- |
2 |
3-164793741-A-C |
c.60T>G |
p.V20= |
Synonymous |
2/48 |
- |
1 |
3-164793741-A-G |
c.60T>C |
p.V20= |
Synonymous |
2/48 |
- |
1 |
3-164793741-A-T |
c.60T>A |
p.V20= |
Synonymous |
2/48 |
- |
1 |
3-164793742-A-C |
c.59T>G |
p.V20G |
Missense |
2/48 |
- |
1 |
3-164793742-AC-CT |
c.58_59delinsAG |
p.V20S |
Missense |
2/48 |
- |
1 |
3-164793742-AC-TT |
c.58_59delinsAA |
p.V20N |
Missense |
2/48 |
- |
1 |
3-164793742-A-G |
c.59T>C |
p.V20A |
Missense |
2/48 |
- |
1 |
3-164793742-A-T |
c.59T>A |
p.V20D |
Missense |
2/48 |
- |
1 |
3-164793743-C-T |
c.58G>A |
p.V20I |
Missense |
2/48 |
- |
2 |
3-164793744-CTATGACAAAAAG-C |
c.46_57del |
p.L16_I19del |
InFrameDeletion |
2/48 |
- |
1 |
3-164793744-T-A |
c.57A>T |
p.I19= |
Synonymous |
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 |
3-164793744-T-G |
c.57A>C |
p.I19= |
Synonymous |
2/48 |
- |
1 |
3-164793745-A-C |
c.56T>G |
p.I19R |
Missense |
2/48 |
- |
1 |
3-164793745-AT-GC |
c.55_56delinsGC |
p.I19A |
Missense |
2/48 |
- |
2 |
3-164793746-T-A |
c.55A>T |
p.I19L |
Missense |
2/48 |
- |
2 |
3-164793746-T-G |
c.55A>C |
p.I19L |
Missense |
2/48 |
- |
2 |
3-164793747-GAC-CAT |
c.52_54delinsATG |
p.V18M |
Missense |
2/48 |
- |
2 |
3-164793747-GAC-TTA |
c.52_54delinsTAA |
p.V18* |
Nonsense |
2/48 |
- |
1 |
3-164793748-AC-CA |
c.52_53delinsTG |
p.V18C |
Missense |
2/48 |
- |
1 |
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-TT |
c.52_53delinsAA |
p.V18N |
Missense |
2/48 |
- |
2 |
3-164793748-A-G |
c.53T>C |
p.V18A |
Missense |
2/48 |
- |
3 |
3-164793750-AAA-CTC |
c.49_51delinsGAG |
p.F17E |
Missense |
2/48 |
- |
2 |
3-164793751-AA-CG |
c.49_50delinsCG |
p.F17R |
Missense |
2/48 |
- |
1 |
3-164793751-AA-GC |
c.49_50delinsGC |
p.F17A |
Missense |
2/48 |
- |
3 |
3-164793751-AA-TC |
c.49_50delinsGA |
p.F17D |
Missense |
2/48 |
- |
1 |
3-164793751-A-C |
c.50T>G |
p.F17C |
Missense |
2/48 |
- |
2 |
3-164793749-CAAA-C |
c.49_51del |
p.F17del |
InFrameDeletion |
2/48 |
- |
1 |
3-164793753-AAG-CTT |
c.46_48inv |
p.L16K |
Missense |
2/48 |
- |
1 |
3-164793753-AA-TT |
c.47_48inv |
p.L16Q |
Missense |
2/48 |
- |
1 |
3-164793753-A-C |
c.48T>G |
p.L16= |
Synonymous |
2/48 |
- |
1 |
3-164793753-A-G |
c.48T>C |
p.L16= |
Synonymous |
2/48 |
- |
1 |
3-164793753-A-T |
c.48T>A |
p.L16= |
Synonymous |
2/48 |
- |
1 |
3-164793754-A-C |
c.47T>G |
p.L16R |
Missense |
2/48 |
- |
1 |
3-164793754-A-G |
c.47T>C |
p.L16P |
Missense |
2/48 |
- |
3 |
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 |
3-164793755-G-A |
c.46C>T |
p.L16F |
Missense |
2/48 |
- |
1 |
3-164793755-G-C |
c.46C>G |
p.L16V |
Missense |
2/48 |
- |
1 |
3-164793755-G-T |
c.46C>A |
p.L16I |
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-AAT-CTC |
c.40_42delinsGAG |
p.I14E |
Missense |
2/48 |
- |
1 |
3-164793759-A-C |
c.42T>G |
p.I14M |
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-CA-AT |
c.38_39delinsAT |
p.L13H |
Missense |
2/48 |
- |
1 |
3-164793762-CAG-AAA |
c.37_39delinsTTT |
p.L13F |
Missense |
2/48 |
- |
1 |
3-164793762-CAG-ACA |
c.37_39delinsTGT |
p.L13C |
Missense |
2/48 |
- |
2 |
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-GTT |
c.37_39delinsAAC |
p.L13N |
Missense |
2/48 |
- |
3 |
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 |
3-164793763-AG-GC |
c.37_38delinsGC |
p.L13A |
Missense |
2/48 |
- |
21 |
3-164793763-AG-TC |
c.37_38delinsGA |
p.L13E |
Missense |
2/48 |
- |
4 |
3-164793764-G-C |
c.37C>G |
p.L13V |
Missense |
2/48 |
- |
3 |
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-AGA-CAT |
c.34_36delinsATG |
p.S12M |
Missense |
2/48 |
- |
2 |
3-164793765-AGA-CTC |
c.34_36delinsGAG |
p.S12E |
Missense |
2/48 |
- |
29 |
3-164793765-AGA-CTT |
c.34_36delinsAAG |
p.S12K |
Missense |
2/48 |
- |
1 |
3-164793765-A-T |
c.36T>A |
p.S12= |
Synonymous |
2/48 |
- |
4 |
3-164793766-G-A |
c.35C>T |
p.S12F |
Missense |
2/48 |
- |
10 |
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-GA-CC |
c.34_35delinsGG |
p.S12G |
Missense |
2/48 |
- |
10 |
3-164793766-GA-CG |
c.34_35delinsCG |
p.S12R |
Missense |
2/48 |
- |
1 |
3-164793766-GA-TC |
c.34_35inv |
p.S12D |
Missense |
2/48 |
- |
57 |
3-164793766-GA-TG |
c.34_35delinsCA |
p.S12H |
Missense |
2/48 |
- |
3 |
3-164793766-G-C |
c.35C>G |
p.S12C |
Missense |
2/48 |
- |
104 |
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-A |
c.33C>T |
p.I11= |
Synonymous |
2/48 |
- |
1 |
3-164793768-G-T |
c.33C>A |
p.I11= |
Synonymous |
2/48 |
- |
1 |
3-164793769-A-C |
c.32T>G |
p.I11S |
Missense |
2/48 |
- |
1 |
3-164793769-AT-GC |
c.31_32delinsGC |
p.I11A |
Missense |
2/48 |
- |
2 |
3-164793770-T-G |
c.31A>C |
p.I11L |
Missense |
2/48 |
- |
1 |
3-164793771-T-A |
c.30A>T |
p.E10D |
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-TTC-ACA |
c.28_30delinsTGT |
p.E10C |
Missense |
2/48 |
- |
1 |
3-164793772-TC-AT |
c.28_29delinsAT |
p.E10I |
Missense |
2/48 |
- |
1 |
3-164793772-TC-GA |
c.28_29inv |
p.E10S |
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-A |
c.6A>T |
p.A2= |
Synonymous |
2/48 |
- |
11 |
3-164793795-T-C |
c.6A>G |
p.A2= |
Synonymous |
2/48 |
- |
11 |
3-164793795-T-G |
c.6A>C |
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 |