ALK ALK receptor tyrosine kinase

Annotation transcript: NM_004304.5

1576 unique variant annotations were identified in 1485 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-29416025-C-G c.*65G>C - 3-UTRSNV 29/29 - 1
2-29416037-C-G c.*53G>C - 3-UTRSNV 29/29 - 1
2-29416092-A-G c.4861T>C p.*1621Rext*41 Missense 29/29 - 1
2-29416104-G-A c.4849C>T p.Q1617* Nonsense 29/29 - 1
2-29416108-C-A c.4845G>T p.M1615I Missense 29/29 - 1
2-29416108-C-G c.4845G>C p.M1615I Missense 29/29 - 1
2-29416108-C-T c.4845G>A p.M1615I Missense 29/29 - 1
2-29416110-T-A c.4843A>T p.M1615L Missense 29/29 - 1
2-29416110-T-G c.4843A>C p.M1615L Missense 29/29 - 1
2-29416124-TT-GC c.4828_4829delinsGC p.K1610A Missense 29/29 - 1
2-29416133-G-A c.4820C>T p.T1607I Missense 29/29 - 1
2-29416139-T-A c.4814A>T p.E1605V Missense 29/29 - 1
2-29416141-G-T c.4812C>A p.Y1604* Nonsense 29/29 - 1
2-29416144-A-G c.4809T>C p.H1603= Synonymous 29/29 - 1
2-29416149-C-T c.4804G>A p.G1602S Missense 29/29 - 1
2-29416152-C-T c.4801G>A p.A1601T Missense 29/29 - 1
2-29416157-G-T c.4796C>A p.P1599H Missense 29/29 - 1
2-29416158-G-A c.4795C>T p.P1599S Missense 29/29 - 2
2-29416164-T-C c.4789A>G p.T1597A Missense 29/29 - 1
2-29416168-G-A c.4785C>T p.A1595= Synonymous 29/29 - 1
2-29416184-C-T c.4769G>A p.G1590D Missense 29/29 - 1
2-29416205-T-A c.4748A>T p.N1583I Missense 29/29 - 1
2-29416205-TT-GC c.4747_4748delinsGC p.N1583A Missense 29/29 - 1
2-29416215-C-T c.4738G>A p.G1580R Missense 29/29 - 1
2-29416220-G-A c.4733C>T p.P1578L Missense 29/29 - 1
2-29416224-A-C c.4729T>G p.F1577V Missense 29/29 - 1
2-29416229-C-A c.4724G>T p.R1575L Missense 29/29 - 1
2-29416229-C-G c.4724G>C p.R1575P Missense 29/29 - 1
2-29416229-C-T c.4724G>A p.R1575H Missense 29/29 - 3
2-29416230-G-A c.4723C>T p.R1575C Missense 29/29 - 2
2-29416232-A-G c.4721T>C p.L1574P Missense 29/29 - 1
2-29416233-G-T c.4720C>A p.L1574I Missense 29/29 - 1
2-29416234-C-A c.4719G>T p.R1573S Missense 29/29 - 1
2-29416247-A-C c.4706T>G p.V1569G Missense 29/29 - 1
2-29416250-T-G c.4703A>C p.E1568A Missense 29/29 - 1
2-29416251-C-T c.4702G>A p.E1568K Missense 29/29 - 1
2-29416270-C-A c.4683G>T p.S1561= Synonymous 29/29 - 1
2-29416270-C-G c.4683G>C p.S1561= Synonymous 29/29 - 1
2-29416270-C-T c.4683G>A p.S1561= Synonymous 29/29 - 1
2-29416278-G-A c.4675C>T p.P1559S Missense 29/29 - 1
2-29416293-A-G c.4660T>C p.S1554P Missense 29/29 - 1
2-29416295-G-T c.4658C>A p.A1553D Missense 29/29 - 1
2-29416298-C-G c.4655G>C p.G1552A Missense 29/29 - 1
2-29416320-C-T c.4633G>A p.V1545I Missense 29/29 - 3
2-29416321-G-A c.4632C>T p.N1544= Synonymous 29/29 - 1
2-29416326-G-A c.4627C>T p.P1543S Missense 29/29 - 2
2-29416345-C-T c.4608G>A p.E1536= Synonymous 29/29 - 1
2-29416349-A-T c.4604T>A p.L1535Q Missense 29/29 - 1
2-29416353-C-G c.4600G>C p.G1534R Missense 29/29 - 1
2-29416356-G-T c.4597C>A p.L1533M Missense 29/29 - 1
2-29416355-AGGTTACCCCTGTCGTGTGGCTCCTTCTTTGCTATAGGATTATTCTTTTT-A c.4549_4597del p.K1517Wfs*25 Frameshift 29/29 - 1
2-29416366-G-C c.4587C>G p.D1529E Missense 29/29 - 17
2-29416380-T-C c.4573A>G p.K1525E Missense 29/29 - 3
2-29416377-CCTT-C c.4573_4575del p.K1525del InFrameDeletion 29/29 - 1
2-29416399-C-A c.4554G>T p.K1518N Missense 29/29 - 1
2-29416411-T-G c.4542A>C p.K1514N Missense 29/29 - 1
2-29416416-C-T c.4537G>A p.E1513K Missense 29/29 - 2
2-29416423-C-G c.4530G>C p.W1510C Missense 29/29 - 1
2-29416431-C-T c.4522G>A p.G1508S Missense 29/29 - 3
2-29416435-C-A c.4518G>T p.T1506= Synonymous 29/29 - 1
2-29416435-C-G c.4518G>C p.T1506= Synonymous 29/29 - 1
2-29416435-C-T c.4518G>A p.T1506= Synonymous 29/29 - 1
2-29416436-G-A c.4517C>T p.T1506M Missense 29/29 - 1
2-29416444-C-T c.4509G>A p.W1503* Nonsense 29/29 - 1
2-29416445-C-T c.4508G>A p.W1503* Nonsense 29/29 - 1
2-29416446-A-T c.4507T>A p.W1503R Missense 29/29 - 1
2-29416454-G-A c.4499C>T p.T1500I Missense 29/29 - 1
2-29416459-C-A c.4494G>T p.K1498N Missense 29/29 - 1
2-29416459-C-G c.4494G>C p.K1498N Missense 29/29 - 1
2-29416466-C-A c.4487G>T p.R1496I Missense 29/29 - 1
2-29416470-A-T c.4483T>A p.S1495T Missense 29/29 - 1
2-29416473-C-A c.4480G>T p.G1494* Nonsense 29/29 - 1
2-29416473-C-G c.4480G>C p.G1494R Missense 29/29 - 1
2-29416473-C-T c.4480G>A p.G1494R Missense 29/29 - 1
2-29416474-G-C c.4479C>G p.H1493Q Missense 29/29 - 1
2-29416480-C-T c.4473G>A p.K1491= Synonymous 29/29 - 1
2-29416481-T-C c.4472A>G p.K1491R Missense 29/29 - 16
2-29416486-C-A c.4467G>T p.L1489F Missense 29/29 - 1
2-29416492-C-T c.4461G>A p.S1487= Synonymous 29/29 - 1
2-29416497-G-A c.4456C>T p.P1486S Missense 29/29 - 1
2-29416505-G-A c.4448C>T p.S1483F Missense 29/29 - 1
2-29416511-GA-TT c.4441_4442delinsAA p.S1481N Missense 29/29 - 1
2-29416513-G-C c.4440C>G p.F1480L Missense 29/29 - 1
2-29416513-G-T c.4440C>A p.F1480L Missense 29/29 - 1
2-29416515-A-G c.4438T>C p.F1480L Missense 29/29 - 1
2-29416520-A-G c.4433T>C p.M1478T Missense 29/29 - 1
2-29416523-TT-GC c.4429_4430delinsGC p.N1477A Missense 29/29 - 1
2-29416528-G-A c.4425C>T p.H1475= Synonymous 29/29 - 1
2-29416529-TGTCCCCCTTCCACG-T c.4410_4423del p.V1471Rfs*45 Frameshift 29/29 - 1
2-29416532-C-T c.4421G>A p.G1474E Missense 29/29 - 1
2-29416535-C-T c.4418G>A p.G1473E Missense 29/29 - 1
2-29416541-CA-C c.4412del p.V1471Gfs*6 Frameshift 29/29 - 1
2-29416547-G-A c.4406C>T p.P1469L Missense 29/29 - 1
2-29416570-G-A c.4383C>T p.I1461= Synonymous 29/29 - 1
2-29416570-G-T c.4383C>A p.I1461= Synonymous 29/29 - 1
2-29416572-T-C c.4381A>G p.I1461V Missense 29/29 - 13
2-29416575-C-G c.4378G>C p.E1460Q Missense 29/29 - 1
2-29416589-TT-GC c.4363_4364delinsGC p.K1455A Missense 29/29 - 1
2-29416601-TT-GC c.4351_4352delinsGC p.K1451A Missense 29/29 - 1
2-29416610-G-A c.4343C>T p.S1448F Missense 29/29 - 1
2-29416615-G-A c.4338C>T p.T1446= Synonymous 29/29 - 3
2-29416611-AGGTGGTAGGCAGAGGT-A c.4326_4341del p.P1445Afs*27 Frameshift 29/29 - 1
2-29416618-TA-T c.4335del p.T1446Pfs*31 Frameshift 29/29 - 1
2-29416619-G-T c.4334C>A p.P1445H Missense 29/29 - 2
2-29416638-C-A c.4315G>T p.A1439S Missense 29/29 - 1
2-29416646-C-T c.4307G>A p.R1436H Missense 29/29 - 2
2-29416650-C-G c.4303G>C p.E1435Q Missense 29/29 - 1
2-29416650-C-T c.4303G>A p.E1435K Missense 29/29 - 1
2-29416653-C-T c.4300G>A p.E1434K Missense 29/29 - 1
2-29416647-GCTC-G c.4303_4305del p.E1435del InFrameDeletion 29/29 - 3
2-29416658-CG-TA c.4294_4295delinsTA p.R1432* Nonsense 29/29 - 1
2-29416659-G-A c.4294C>T p.R1432W Missense 29/29 - 1
2-29416668-G-A c.4285C>T p.Q1429* Nonsense 29/29 - 2
2-29416689-G-A c.4264C>T p.P1422S Missense 29/29 - 1
2-29416697-T-A c.4256A>T p.E1419V Missense 29/29 - 1
2-29416698-C-A c.4255G>T p.E1419* Nonsense 29/29 - 1
2-29416698-C-T c.4255G>A p.E1419K Missense 29/29 - 1
2-29416700-G-T c.4253C>A p.P1418H Missense 29/29 - 1
2-29416704-C-G c.4249G>C p.D1417H Missense 29/29 - 1
2-29416705-C-A c.4248G>T p.K1416N Missense 29/29 - 1
2-29416712-C-G c.4241G>C p.R1414T Missense 29/29 - 1
2-29416712-C-T c.4241G>A p.R1414K Missense 29/29 - 2
2-29416730-T-A c.4223A>T p.E1408V Missense 29/29 - 1
2-29416731-C-T c.4222G>A p.E1408K Missense 29/29 - 1
2-29416732-C-T c.4221G>A p.E1407= Synonymous 29/29 - 1
2-29416734-C-G c.4219G>C p.E1407Q Missense 29/29 - 1
2-29416734-C-T c.4219G>A p.E1407K Missense 29/29 - 3
2-29416737-C-G c.4216G>C p.E1406Q Missense 29/29 - 1
2-29416742-A-G c.4211T>C p.L1404P Missense 29/29 - 1
2-29416743-G-A c.4210C>T p.L1404F Missense 29/29 - 1
2-29416743-G-C c.4210C>G p.L1404V Missense 29/29 - 2
2-29416753-T-A c.4200A>T p.E1400D Missense 29/29 - 1
2-29416753-T-G c.4200A>C p.E1400D Missense 29/29 - 2
2-29416760-G-A c.4193C>T p.P1398L Missense 29/29 - 1
2-29416768-G-A c.4185C>T p.T1395= Synonymous 29/29 - 1
2-29416770-T-C c.4183A>G p.T1395A Missense 29/29 - 1
2-29416784-G-A c.4169C>T p.P1390L Missense 29/29 - 1
2-29416794-G-A c.4165-6C>T - IntronicSNV - 28/28 2
2-29416946-T-A c.4165-158A>T - IntronicSNV - 28/28 1
2-29416946-T-C c.4165-158A>G - IntronicSNV - 28/28 1
2-29419413-T-C c.4164+223A>G - IntronicSNV - 28/28 1
2-29419591-G-T c.4164+45C>A - IntronicSNV - 28/28 2
2-29419636-C-G c.4164G>C p.Q1388H Missense 28/29 - 1
2-29419637-CT-C c.4163del p.Q1388Rfs*5 Frameshift 28/29 - 1
2-29419643-C-T c.4157G>A p.C1386Y Missense 28/29 - 1
2-29419650-C-T c.4150G>A p.E1384K Missense 28/29 - 5
2-29419655-C-G c.4145G>C p.R1382T Missense 28/29 - 1
2-29419658-T-A c.4142A>T p.E1381V Missense 28/29 - 1
2-29419679-G-T c.4121C>A p.P1374H Missense 28/29 - 1
2-29419686-C-T c.4114G>A p.D1372N Missense 28/29 - 1
2-29419688-T-C c.4112A>G p.E1371G Missense 28/29 - 1
2-29419689-C-T c.4111G>A p.E1371K Missense 28/29 - 2
2-29419691-G-C c.4109C>G p.P1370R Missense 28/29 - 1
2-29419701-G-A c.4099C>T p.Q1367* Nonsense 28/29 - 1
2-29419702-C-T c.4098G>A p.W1366* Nonsense 28/29 - 1
2-29419703-C-T c.4097G>A p.W1366* Nonsense 28/29 - 1
2-29419706-C-T c.4094G>A p.C1365Y Missense 28/29 - 1
2-29419712-G-A c.4088C>T p.T1363I Missense 28/29 - 1
2-29419721-C-T c.4079G>A p.R1360Q Missense 28/29 - 4
2-29419722-G-A c.4078C>T p.R1360W Missense 28/29 - 1
2-29420413-CCC-GCT c.4066_4068delinsAGC p.G1356S Missense 27/29 - 1
2-29420420-C-A c.4061G>T p.C1354F Missense 27/29 - 1
2-29420422-G-T c.4059C>A p.N1353K Missense 27/29 - 2
2-29420429-G-A c.4052C>T p.P1351L Missense 27/29 - 1
2-29420432-G-T c.4049C>A p.P1350Q Missense 27/29 - 1
2-29420433-G-T c.4048C>A p.P1350T Missense 27/29 - 1
2-29420435-T-A c.4046A>T p.D1349V Missense 27/29 - 1
2-29420436-C-G c.4045G>C p.D1349H Missense 27/29 - 4
2-29420441-C-T c.4040G>A p.R1347Q Missense 27/29 - 3
2-29420445-C-T c.4036G>A p.G1346S Missense 27/29 - 1
2-29420453-G-A c.4028C>T p.T1343I Missense 27/29 - 4
2-29420457-C-T c.4024G>A p.V1342I Missense 27/29 - 1
2-29420464-C-A c.4017G>T p.L1339= Synonymous 27/29 - 1
2-29420464-C-G c.4017G>C p.L1339= Synonymous 27/29 - 1
2-29420464-C-T c.4017G>A p.L1339= Synonymous 27/29 - 1
2-29420466-G-A c.4015C>T p.L1339= Synonymous 27/29 - 1
2-29420479-G-C c.4002C>G p.S1334R Missense 27/29 - 1
2-29420479-G-T c.4002C>A p.S1334R Missense 27/29 - 1
2-29420481-T-G c.4000A>C p.S1334R Missense 27/29 - 1
2-29420483-T-C c.3998A>G p.K1333R Missense 27/29 - 1
2-29420492-T-C c.3989A>G p.Y1330C Missense 27/29 - 1
2-29420497-C-A c.3984G>T p.M1328I Missense 27/29 - 3
2-29420497-C-G c.3984G>C p.M1328I Missense 27/29 - 2
2-29420497-C-T c.3984G>A p.M1328I Missense 27/29 - 2
2-29420504-C-G c.3977G>C p.G1326A Missense 27/29 - 1
2-29420505-C-A c.3976G>T p.G1326* Nonsense 27/29 - 1
2-29420513-A-G c.3968T>C p.F1323S Missense 27/29 - 1
2-29420515-G-C c.3966C>G p.I1322M Missense 27/29 - 1
2-29420516-A-G c.3965T>C p.I1322T Missense 27/29 - 1
2-29420523-A-G c.3958T>C p.W1320R Missense 27/29 - 1
2-29420523-A-T c.3958T>A p.W1320R Missense 27/29 - 1
2-29420526-G-C c.3955C>G p.L1319V Missense 27/29 - 1
2-29420534-C-G c.3947G>C p.G1316A Missense 27/29 - 2
2-29420550-T-C c.3939-8A>G - IntronicSNV - 26/28 2
2-29429964-A-T c.3938+73T>A - IntronicSNV - 26/28 1
2-29430042-G-C c.3933C>G p.D1311E Missense 26/29 - 1
2-29430042-G-T c.3933C>A p.D1311E Missense 26/29 - 1
2-29430044-C-T c.3931G>A p.D1311N Missense 26/29 - 2
2-29430056-T-G c.3919A>C p.T1307P Missense 26/29 - 1
2-29430064-C-T c.3911G>A p.G1304E Missense 26/29 - 3
2-29430068-C-T c.3907G>A p.E1303K Missense 26/29 - 1
2-29430070-A-C c.3905T>G p.M1302R Missense 26/29 - 1
2-29430076-G-A c.3899C>T p.A1300V Missense 26/29 - 1
2-29430080-C-A c.3895G>T p.E1299* Nonsense 26/29 - 1
2-29430080-C-G c.3895G>C p.E1299Q Missense 26/29 - 2
2-29430080-C-T c.3895G>A p.E1299K Missense 26/29 - 2
2-29430083-G-A c.3892C>T p.P1298S Missense 26/29 - 1
2-29430090-C-A c.3885G>T p.W1295C Missense 26/29 - 1
2-29430090-C-G c.3885G>C p.W1295C Missense 26/29 - 1
2-29430106-A-G c.3869T>C p.M1290T Missense 26/29 - 1
2-29430106-CA-C c.3869del p.M1290Sfs*72 Frameshift 26/29 - 1
2-29430107-T-C c.3868A>G p.M1290V Missense 26/29 - 1
2-29430118-C-G c.3857G>C p.G1286A Missense 26/29 - 1
2-29430119-C-G c.3856G>C p.G1286R Missense 26/29 - 6
2-29430119-C-T c.3856G>A p.G1286R Missense 26/29 - 6
2-29430124-C-T c.3851G>A p.R1284K Missense 26/29 - 1
2-29430124-CT-TG c.3850_3851delinsCA p.R1284Q Missense 26/29 - 2
2-29430126-ATA-CTC c.3847_3849delinsGAG p.Y1283E Missense 26/29 - 1
2-29430127-T-A c.3848A>T p.Y1283F Missense 26/29 - 1
2-29430129-GTA-CTC c.3844_3846delinsGAG p.Y1282E Missense 26/29 - 1
2-29430130-T-A c.3845A>T p.Y1282F Missense 26/29 - 1
2-29430130-T-G c.3845A>C p.Y1282S Missense 26/29 - 1
2-29430134-T-C c.3841A>G p.S1281G Missense 26/29 - 1
2-29430136-G-A c.3839C>T p.A1280V Missense 26/29 - 2
2-29430142-T-G c.3837-4A>C - IntronicSNV - 25/28 1
2-29432625-C-A c.3836+27G>T - IntronicSNV - 25/28 3
2-29432652-C-A c.3836G>T p.R1279M Missense 25/29 - 1
2-29432652-C-T c.3836G>A p.R1279K Missense 25/29 - 1
2-29432652-CT-TG c.3835_3836delinsCA p.R1279Q Missense 25/29 - 7
2-29432654-GTA-CTC c.3832_3834delinsGAG p.Y1278E Missense 25/29 - 1
2-29432655-T-A c.3833A>T p.Y1278F Missense 25/29 - 1
2-29432655-TA-GC c.3832_3833delinsGC p.Y1278A Missense 25/29 - 2
2-29432655-T-C c.3833A>G p.Y1278C Missense 25/29 - 1
2-29432655-T-G c.3833A>C p.Y1278S Missense 25/29 - 25
2-29432656-A-C c.3832T>G p.Y1278D Missense 25/29 - 1
2-29432656-A-G c.3832T>C p.Y1278H Missense 25/29 - 1
2-29432656-A-T c.3832T>A p.Y1278N Missense 25/29 - 1
2-29432663-TCG-CCA c.3823_3825delinsTGG p.R1275W Missense 25/29 - 1
2-29432664-C-A c.3824G>T p.R1275L Missense 25/29 - 21
2-29432664-C-T c.3824G>A p.R1275Q Missense 25/29 - 243
2-29432665-G-A c.3823C>T p.R1275* Nonsense 25/29 - 4
2-29432668-C-T c.3820G>A p.A1274T Missense 25/29 - 2
2-29432669-CATCCCG-C c.3813_3818del p.F1271_M1273delinsL MultiAAMissense 25/29 - 1
2-29432674-C-A c.3814G>T p.G1272W Missense 25/29 - 1
2-29432674-C-G c.3814G>C p.G1272R Missense 25/29 - 2
2-29432674-C-T c.3814G>A p.G1272R Missense 25/29 - 2
2-29432675-G-C c.3813C>G p.F1271L Missense 25/29 - 1
2-29432675-G-T c.3813C>A p.F1271L Missense 25/29 - 1
2-29432677-A-G c.3811T>C p.F1271L Missense 25/29 - 1
2-29432678-G-C c.3810C>G p.D1270E Missense 25/29 - 1
2-29432678-G-T c.3810C>A p.D1270E Missense 25/29 - 1
2-29432679-T-A c.3809A>T p.D1270V Missense 25/29 - 1
2-29432679-T-C c.3809A>G p.D1270G Missense 25/29 - 3
2-29432680-C-T c.3808G>A p.D1270N Missense 25/29 - 2
2-29432681-TCC-ACA c.3805_3807delinsTGT p.G1269C Missense 25/29 - 2
2-29432681-TCC-CAT c.3805_3807delinsATG p.G1269M Missense 25/29 - 1
2-29432681-TCC-GCT c.3805_3807delinsAGC p.G1269S Missense 25/29 - 27
2-29432682-C-G c.3806G>C p.G1269A Missense 25/29 - 331
2-29432682-C-T c.3806G>A p.G1269E Missense 25/29 - 1
2-29432683-C-G c.3805G>C p.G1269R Missense 25/29 - 2
2-29432683-C-T c.3805G>A p.G1269R Missense 25/29 - 2
2-29432685-A-G c.3803T>C p.I1268T Missense 25/29 - 1
2-29432686-T-C c.3802A>G p.I1268V Missense 25/29 - 2
2-29432686-T-G c.3802A>C p.I1268L Missense 25/29 - 3
2-29432692-C-T c.3796G>A p.A1266T Missense 25/29 - 1
2-29432694-A-T c.3794T>A p.V1265E Missense 25/29 - 1
2-29432695-C-T c.3793G>A p.V1265M Missense 25/29 - 2
2-29432701-C-G c.3787G>C p.G1263R Missense 25/29 - 1
2-29432701-C-T c.3787G>A p.G1263R Missense 25/29 - 1
2-29432704-G-A c.3784C>T p.P1262S Missense 25/29 - 1
2-29432707-C-T c.3781G>A p.G1261S Missense 25/29 - 1
2-29432715-G-A c.3773C>T p.T1258I Missense 25/29 - 1
2-29432715-G-T c.3773C>A p.T1258N Missense 25/29 - 1
2-29432717-C-G c.3771G>C p.L1257F Missense 25/29 - 1
2-29432721-A-G c.3767T>C p.L1256P Missense 25/29 - 1
2-29432722-G-A c.3766C>T p.L1256F Missense 25/29 - 12
2-29432724-C-A c.3764G>T p.C1255F Missense 25/29 - 1
2-29432727-T-C c.3761A>G p.N1254S Missense 25/29 - 1
2-29432733-G-A c.3755C>T p.A1252V Missense 25/29 - 1
2-29432735-A-G c.3753T>C p.A1251= Synonymous 25/29 - 1
2-29432737-C-T c.3751G>A p.A1251T Missense 25/29 - 1
2-29432739-A-G c.3749T>C p.I1250T Missense 25/29 - 24
2-29432740-T-C c.3748A>G p.I1250V Missense 25/29 - 1
2-29432743-C-T c.3745G>A p.D1249N Missense 25/29 - 1
2-29432776-T-C c.3744-32A>G - IntronicSNV - 24/28 3
2-29436850-C-T c.3743G>A p.R1248Q Missense 24/29 - 2
2-29436851-G-A c.3742C>T p.R1248* Nonsense 24/29 - 2
2-29436858-GA-TT c.3734_3735delinsAA p.F1245* Nonsense 24/29 - 1
2-29436859-AA-GC c.3733_3734delinsGC p.F1245A Missense 24/29 - 1
2-29436859-A-C c.3734T>G p.F1245C Missense 24/29 - 78
2-29436859-A-T c.3734T>A p.F1245Y Missense 24/29 - 1
2-29436858-G-C c.3735C>G p.F1245L Missense 24/29 - 9
2-29436858-G-T c.3735C>A p.F1245L Missense 24/29 - 9
2-29436860-A-C c.3733T>G p.F1245V Missense 24/29 - 37
2-29436860-A-G c.3733T>C p.F1245L Missense 24/29 - 10
2-29436860-A-T c.3733T>A p.F1245I Missense 24/29 - 10
2-29436863-G-A c.3730C>T p.H1244Y Missense 24/29 - 1
2-29436869-C-T c.3724G>A p.E1242K Missense 24/29 - 2
2-29436875-A-C c.3718T>G p.L1240V Missense 24/29 - 6
2-29436878-A-G c.3715T>C p.Y1239H Missense 24/29 - 1
2-29436890-A-G c.3703T>C p.C1235R Missense 24/29 - 1
2-29436893-C-T c.3700G>A p.A1234T Missense 24/29 - 12
2-29436901-C-T c.3692G>A p.R1231Q Missense 24/29 - 9
2-29436902-G-A c.3691C>T p.R1231W Missense 24/29 - 3
2-29436916-A-T c.3677T>A p.L1226H Missense 24/29 - 1
2-29436920-C-T c.3673G>A p.D1225N Missense 24/29 - 1
2-29436931-A-C c.3662T>G p.L1221R Missense 24/29 - 1
2-29436933-G-C c.3660C>G p.S1220= Synonymous 24/29 - 1
2-29436937-G-A c.3656C>T p.S1219F Missense 24/29 - 1
2-29436947-T-A c.3646A>T p.S1216C Missense 24/29 - 1
2-29436966-G-A c.3646-19C>T - IntronicSNV - 23/28 1
2-29436966-G-C c.3646-19C>G - IntronicSNV - 23/28 1
2-29436966-G-T c.3646-19C>A - IntronicSNV - 23/28 1
2-29436976-C-A c.3646-29G>T - IntronicSNV - 23/28 1
2-29436976-C-T c.3646-29G>A - IntronicSNV - 23/28 1
2-29437182-T-C c.3646-235A>G - IntronicSNV - 23/28 1
2-29443573-G-A c.3644C>T p.P1215L Missense 23/29 - 1
2-29443576-C-T c.3641G>A p.R1214H Missense 23/29 - 2
2-29443577-G-A c.3640C>T p.R1214C Missense 23/29 - 1
2-29443579-GG-CA c.3637_3638delinsTG p.P1213C Missense 23/29 - 1
2-29443580-G-A c.3637C>T p.P1213S Missense 23/29 - 1
2-29443582-C-G c.3635G>C p.R1212P Missense 23/29 - 1
2-29443582-C-T c.3635G>A p.R1212H Missense 23/29 - 3
2-29443583-G-A c.3634C>T p.R1212C Missense 23/29 - 3
2-29443583-G-T c.3634C>A p.R1212S Missense 23/29 - 1
2-29443584-G-A c.3633C>T p.T1211= Synonymous 23/29 - 1
2-29443586-T-C c.3631A>G p.T1211A Missense 23/29 - 1
2-29443589-C-T c.3628G>A p.E1210K Missense 23/29 - 69
2-29443590-T-C c.3627A>G p.R1209= Synonymous 23/29 - 1
2-29443591-C-T c.3626G>A p.R1209Q Missense 23/29 - 3
2-29443591-TC-T c.3626del p.R1209Qfs*49 Frameshift 23/29 - 1
2-29443600-G-A c.3617C>T p.S1206F Missense 23/29 - 11
2-29443600-GA-CG c.3616_3617delinsCG p.S1206R Missense 23/29 - 17
2-29443600-G-C c.3617C>G p.S1206C Missense 23/29 - 24
2-29443600-G-T c.3617C>A p.S1206Y Missense 23/29 - 182
2-29443601-A-C c.3616T>G p.S1206A Missense 23/29 - 3
2-29443606-A-G c.3611T>C p.L1204P Missense 23/29 - 1
2-29443607-G-A c.3610C>T p.L1204F Missense 23/29 - 6
2-29443607-G-C c.3610C>G p.L1204V Missense 23/29 - 5
2-29443608-GTC-CTT c.3607_3609delinsAAG p.D1203K Missense 23/29 - 1
2-29443609-T-C c.3608A>G p.D1203G Missense 23/29 - 1
2-29443609-T-G c.3608A>C p.D1203A Missense 23/29 - 1
2-29443610-C-G c.3607G>C p.D1203H Missense 23/29 - 1
2-29443610-C-T c.3607G>A p.D1203N Missense 23/29 - 103
2-29443609-TCTC-T c.3605_3607del p.G1202del InFrameDeletion 23/29 - 25
2-29443611-TCC-GCT c.3604_3606delinsAGC p.G1202S Missense 23/29 - 1
2-29443611-TCC-GTT c.3604_3606delinsAAC p.G1202N Missense 23/29 - 1
2-29443612-CC-AG c.3604_3605delinsCT p.G1202L Missense 23/29 - 1
2-29443612-CC-TT c.3604_3605delinsAA p.G1202K Missense 23/29 - 3
2-29443612-C-T c.3605G>A p.G1202E Missense 23/29 - 2
2-29443613-C-A c.3604G>T p.G1202* Nonsense 23/29 - 1
2-29443613-C-G c.3604G>C p.G1202R Missense 23/29 - 404
2-29443613-C-T c.3604G>A p.G1202R Missense 23/29 - 458
2-29443614-CCC-ACA c.3601_3603delinsTGT p.G1201C Missense 23/29 - 1
2-29443615-C-G c.3602G>C p.G1201A Missense 23/29 - 3
2-29443615-C-T c.3602G>A p.G1201E Missense 23/29 - 15
2-29443616-C-A c.3601G>T p.G1201W Missense 23/29 - 1
2-29443616-C-G c.3601G>C p.G1201R Missense 23/29 - 2
2-29443616-C-T c.3601G>A p.G1201R Missense 23/29 - 2
2-29443611-TC-T c.3605del p.G1202Efs*56 Frameshift 23/29 - 3
2-29443617-C-A c.3600G>T p.A1200= Synonymous 23/29 - 1
2-29443617-C-G c.3600G>C p.A1200= Synonymous 23/29 - 1
2-29443617-C-T c.3600G>A p.A1200= Synonymous 23/29 - 1
2-29443618-G-A c.3599C>T p.A1200V Missense 23/29 - 8
2-29443620-C-A c.3597G>T p.M1199I Missense 23/29 - 1
2-29443620-C-T c.3597G>A p.M1199I Missense 23/29 - 1
2-29443622-T-A c.3595A>T p.M1199L Missense 23/29 - 2
2-29443622-T-G c.3595A>C p.M1199L Missense 23/29 - 2
2-29443623-G-A c.3594C>T p.L1198= Synonymous 23/29 - 1
2-29443623-GAG-CAT c.3592_3594delinsATG p.L1198M Missense 23/29 - 1
2-29443623-GAG-TTA c.3592_3594delinsTAA p.L1198* Nonsense 23/29 - 1
2-29443624-A-G c.3593T>C p.L1198P Missense 23/29 - 12
2-29443624-A-T c.3593T>A p.L1198H Missense 23/29 - 6
2-29443625-G-A c.3592C>T p.L1198F Missense 23/29 - 124
2-29443625-G-C c.3592C>G p.L1198V Missense 23/29 - 2
2-29443625-G-T c.3592C>A p.L1198I Missense 23/29 - 2
2-29443628-C-T c.3589G>A p.E1197K Missense 23/29 - 2
2-29443629-CAG-AAA c.3586_3588delinsTTT p.L1196F Missense 23/29 - 1
2-29443630-A-T c.3587T>A p.L1196Q Missense 23/29 - 25
2-29443631-G-T c.3586C>A p.L1196M Missense 23/29 - 573
2-29443637-T-A c.3580A>T p.I1194F Missense 23/29 - 1
2-29443637-T-C c.3580A>G p.I1194V Missense 23/29 - 2
2-29443640-A-G c.3577T>C p.F1193L Missense 23/29 - 1
2-29443642-C-G c.3575G>C p.R1192P Missense 23/29 - 45
2-29443642-C-T c.3575G>A p.R1192Q Missense 23/29 - 2
2-29443643-G-A c.3574C>T p.R1192W Missense 23/29 - 3
2-29443643-G-C c.3574C>G p.R1192G Missense 23/29 - 4
2-29443645-GG-AA c.3571_3572delinsTT p.P1191F Missense 23/29 - 1
2-29443645-G-T c.3572C>A p.P1191H Missense 23/29 - 1
2-29443646-G-A c.3571C>T p.P1191S Missense 23/29 - 1
2-29443646-G-C c.3571C>G p.P1191A Missense 23/29 - 1
2-29443645-GGCA-G c.3569_3571del p.L1190del InFrameDeletion 23/29 - 1
2-29443648-A-G c.3569T>C p.L1190P Missense 23/29 - 2
2-29443650-G-A c.3567C>T p.S1189= Synonymous 23/29 - 1
2-29443653-T-C c.3564A>G p.Q1188= Synonymous 23/29 - 1
2-29443655-G-A c.3562C>T p.Q1188* Nonsense 23/29 - 1
2-29443656-C-A c.3561G>T p.L1187= Synonymous 23/29 - 1
2-29443657-A-G c.3560T>C p.L1187P Missense 23/29 - 2
2-29443660-C-T c.3557G>A p.S1186N Missense 23/29 - 1
2-29443660-CT-AA c.3556_3557delinsTT p.S1186F Missense 23/29 - 1
2-29443661-T-C c.3556A>G p.S1186G Missense 23/29 - 1
2-29443663-A-G c.3554T>C p.V1185A Missense 23/29 - 2
2-29443664-C-A c.3553G>T p.V1185L Missense 23/29 - 4
2-29443664-C-G c.3553G>C p.V1185L Missense 23/29 - 3
2-29443666-C-A c.3551G>T p.G1184V Missense 23/29 - 1
2-29443666-C-T c.3551G>A p.G1184E Missense 23/29 - 6
2-29443669-A-G c.3548T>C p.I1183T Missense 23/29 - 6
2-29443672-C-T c.3545G>A p.C1182Y Missense 23/29 - 2
2-29443675-C-T c.3542G>A p.R1181H Missense 23/29 - 4
2-29443676-G-A c.3541C>T p.R1181C Missense 23/29 - 5
2-29443678-A-G c.3539T>C p.V1180A Missense 23/29 - 1
2-29443679-C-G c.3538G>C p.V1180L Missense 23/29 - 110
2-29443682-T-C c.3535A>G p.I1179V Missense 23/29 - 1
2-29443685-T-G c.3532A>C p.N1178H Missense 23/29 - 4
2-29443690-T-C c.3527A>G p.H1176R Missense 23/29 - 1
2-29443694-T-C c.3523A>G p.N1175D Missense 23/29 - 1
2-29443695-G-A c.3522C>T p.F1174= Synonymous 23/29 - 3
2-29443695-GAA-CTT c.3520_3522delinsAAG p.F1174K Missense 23/29 - 1
2-29443695-GA-TT c.3521_3522delinsAA p.F1174* Nonsense 23/29 - 9
2-29443696-A-C c.3521T>G p.F1174C Missense 23/29 - 168
2-29443696-A-G c.3521T>C p.F1174S Missense 23/29 - 23
2-29443695-G-C c.3522C>G p.F1174L Missense 23/29 - 474
2-29443695-G-T c.3522C>A p.F1174L Missense 23/29 - 511
2-29443697-A-C c.3520T>G p.F1174V Missense 23/29 - 86
2-29443697-A-G c.3520T>C p.F1174L Missense 23/29 - 436
2-29443697-A-T c.3520T>A p.F1174I Missense 23/29 - 34
2-29443701-G-T c.3516C>A p.S1172R Missense 23/29 - 1
2-29443749-G-T c.3516-48C>A - IntronicSNV - 22/28 1
2-29444076-G-T c.3516-375C>A - IntronicSNV - 22/28 1
2-29444095-C-G c.3516-394G>C - IntronicSNV - 22/28 1
2-29444095-C-T c.3516-394G>A - IntronicSNV - 22/28 1
2-29445157-G-C c.3515+53C>G - IntronicSNV - 22/28 1
2-29445192-G-A c.3515+18C>T - IntronicSNV - 22/28 1
2-29445211-T-C c.3514A>G p.S1172G Missense 22/29 - 1
2-29445212-GAT-TTA c.3511_3513delinsTAA p.I1171* Nonsense 22/29 - 13
2-29445213-A-C c.3512T>G p.I1171S Missense 22/29 - 42
2-29445213-A-G c.3512T>C p.I1171T Missense 22/29 - 180
2-29445213-A-T c.3512T>A p.I1171N Missense 22/29 - 121
2-29445213-AT-TG c.3511_3512delinsCA p.I1171H Missense 22/29 - 1
2-29445214-T-G c.3511A>C p.I1171L Missense 22/29 - 1
2-29445215-G-A c.3510C>T p.I1170= Synonymous 22/29 - 1
2-29445216-A-C c.3509T>G p.I1170S Missense 22/29 - 4
2-29445216-A-T c.3509T>A p.I1170N Missense 22/29 - 8
2-29445217-T-C c.3508A>G p.I1170V Missense 22/29 - 1
2-29445218-C-A c.3507G>T p.L1169= Synonymous 22/29 - 1
2-29445218-C-G c.3507G>C p.L1169= Synonymous 22/29 - 1
2-29445218-C-T c.3507G>A p.L1169= Synonymous 22/29 - 1
2-29445220-G-A c.3505C>T p.L1169= Synonymous 22/29 - 1
2-29445220-G-T c.3505C>A p.L1169M Missense 22/29 - 2
2-29445225-T-G c.3500A>C p.E1167A Missense 22/29 - 1
2-29445227-CA-GT c.3497_3498delinsAC p.M1166N Missense 22/29 - 2
2-29445227-C-T c.3498G>A p.M1166I Missense 22/29 - 1
2-29445228-A-C c.3497T>G p.M1166R Missense 22/29 - 18
2-29445238-C-T c.3487G>A p.D1163N Missense 22/29 - 3
2-29445243-T-G c.3482A>C p.E1161A Missense 22/29 - 1
2-29445244-C-T c.3481G>A p.E1161K Missense 22/29 - 3
2-29445245-G-A c.3480C>T p.D1160= Synonymous 22/29 - 1
2-29445246-T-C c.3479A>G p.D1160G Missense 22/29 - 1
2-29445247-C-T c.3478G>A p.D1160N Missense 22/29 - 2
2-29445249-T-A c.3476A>T p.Q1159L Missense 22/29 - 3
2-29445258-C-A c.3467G>T p.C1156F Missense 22/29 - 7
2-29445258-CA-GT c.3466_3467delinsAC p.C1156T Missense 22/29 - 3
2-29445258-C-T c.3467G>A p.C1156Y Missense 22/29 - 355
2-29445258-C-G c.3467G>C p.C1156S Missense 22/29 - 3
2-29445259-A-T c.3466T>A p.C1156S Missense 22/29 - 4
2-29445264-T-G c.3461A>C p.E1154A Missense 22/29 - 1
2-29445265-C-G c.3460G>C p.E1154Q Missense 22/29 - 1
2-29445265-C-T c.3460G>A p.E1154K Missense 22/29 - 3
2-29445268-G-A c.3457C>T p.P1153S Missense 22/29 - 1
2-29445270-A-C c.3455T>G p.L1152R Missense 22/29 - 169
2-29445270-A-G c.3455T>C p.L1152P Missense 22/29 - 33
2-29445271-G-C c.3454C>G p.L1152V Missense 22/29 - 2
2-29445272-CG-GA c.3452_3453delinsTC p.T1151I Missense 22/29 - 1
2-29445273-G-A c.3452C>T p.T1151M Missense 22/29 - 33
2-29445273-G-C c.3452C>G p.T1151R Missense 22/29 - 9
2-29445273-G-T c.3452C>A p.T1151K Missense 22/29 - 13
2-29445274-T-A c.3451A>T p.T1151S Missense 22/29 - 1
2-29445304-G-A c.3451-30C>T - IntronicSNV - 21/28 1
2-29445383-C-A c.3450G>T p.K1150N Missense 21/29 - 1
2-29445384-T-A c.3449A>T p.K1150M Missense 21/29 - 3
2-29445384-T-C c.3449A>G p.K1150R Missense 21/29 - 2
2-29445384-TT-GC c.3448_3449delinsGC p.K1150A Missense 21/29 - 1
2-29445387-A-G c.3446T>C p.V1149A Missense 21/29 - 2
2-29445388-C-A c.3445G>T p.V1149L Missense 21/29 - 1
2-29445388-C-G c.3445G>C p.V1149L Missense 21/29 - 1
2-29445390-G-A c.3443C>T p.A1148V Missense 21/29 - 1
2-29445391-C-T c.3442G>A p.A1148T Missense 21/29 - 1
2-29445394-C-A c.3439G>T p.V1147L Missense 21/29 - 1
2-29445394-C-G c.3439G>C p.V1147L Missense 21/29 - 1
2-29445394-C-T c.3439G>A p.V1147M Missense 21/29 - 1
2-29445396-TG-GA c.3436_3437delinsTC p.Q1146S Missense 21/29 - 1
2-29445397-G-T c.3436C>A p.Q1146K Missense 21/29 - 2
2-29445399-A-C c.3434T>G p.L1145R Missense 21/29 - 1
2-29445402-G-A c.3431C>T p.P1144L Missense 21/29 - 1
2-29445412-C-T c.3421G>A p.D1141N Missense 21/29 - 3
2-29445417-G-A c.3416C>T p.P1139L Missense 21/29 - 1
2-29445418-G-A c.3415C>T p.P1139S Missense 21/29 - 2
2-29445419-C-A c.3414G>T p.M1138I Missense 21/29 - 1
2-29445419-C-G c.3414G>C p.M1138I Missense 21/29 - 1
2-29445419-C-T c.3414G>A p.M1138I Missense 21/29 - 1
2-29445424-C-G c.3409G>C p.G1137R Missense 21/29 - 1
2-29445424-C-T c.3409G>A p.G1137R Missense 21/29 - 1
2-29445425-G-A c.3408C>T p.S1136= Synonymous 21/29 - 3
2-29445425-G-C c.3408C>G p.S1136= Synonymous 21/29 - 1
2-29445425-G-T c.3408C>A p.S1136= Synonymous 21/29 - 1
2-29445429-A-T c.3404T>A p.V1135E Missense 21/29 - 1
2-29445435-C-A c.3398G>T p.G1133V Missense 21/29 - 1
2-29445436-C-T c.3397G>A p.G1133S Missense 21/29 - 1
2-29445439-C-T c.3394G>A p.E1132K Missense 21/29 - 1
2-29445446-C-A c.3387G>T p.E1129D Missense 21/29 - 1
2-29445446-C-G c.3387G>C p.E1129D Missense 21/29 - 1
2-29445447-T-A c.3386A>T p.E1129V Missense 21/29 - 2
2-29445448-C-T c.3385G>A p.E1129K Missense 21/29 - 1
2-29445449-CCC-GCT c.3382_3384delinsAGC p.G1128S Missense 21/29 - 4
2-29445450-C-G c.3383G>C p.G1128A Missense 21/29 - 43
2-29445447-T-TC c.3385dup p.E1129Gfs*4 Frameshift 21/29 - 1
2-29445451-C-G c.3382G>C p.G1128R Missense 21/29 - 1
2-29445451-C-T c.3382G>A p.G1128R Missense 21/29 - 1
2-29445453-A-G c.3380T>C p.F1127S Missense 21/29 - 1
2-29445454-A-G c.3379T>C p.F1127L Missense 21/29 - 1
2-29445457-C-T c.3376G>A p.A1126T Missense 21/29 - 1
2-29445458-G-A c.3375C>T p.G1125= Synonymous 21/29 - 3
2-29445458-G-T c.3375C>A p.G1125= Synonymous 21/29 - 2
2-29445464-GGCCC-G c.3366_3369del p.G1123Mfs*26 Frameshift 21/29 - 1
2-29445465-C-T c.3368G>A p.G1123D Missense 21/29 - 7
2-29445466-C-T c.3367G>A p.G1123S Missense 21/29 - 37
2-29445469-G-C c.3364C>G p.L1122V Missense 21/29 - 6
2-29445471-C-T c.3362G>A p.G1121D Missense 21/29 - 1
2-29446184-C-G c.3359+24G>C - IntronicSNV - 20/28 2
2-29446202-G-A c.3359+6C>T - IntronicSNV - 20/28 2
2-29446208-C-A c.3359G>T p.R1120L Missense 20/29 - 1
2-29446208-C-T c.3359G>A p.R1120Q Missense 20/29 - 1
2-29446209-G-A c.3358C>T p.R1120W Missense 20/29 - 3
2-29446213-G-A c.3354C>T p.L1118= Synonymous 20/29 - 1
2-29446213-G-C c.3354C>G p.L1118= Synonymous 20/29 - 1
2-29446213-G-T c.3354C>A p.L1118= Synonymous 20/29 - 1
2-29446229-C-T c.3338G>A p.R1113Q Missense 20/29 - 2
2-29446230-G-A c.3337C>T p.R1113W Missense 20/29 - 2
2-29446231-C-T c.3336G>A p.P1112= Synonymous 20/29 - 1
2-29446232-G-A c.3335C>T p.P1112L Missense 20/29 - 1
2-29446236-C-A c.3331G>T p.V1111L Missense 20/29 - 1
2-29446239-C-T c.3328G>A p.E1110K Missense 20/29 - 2
2-29446241-T-A c.3326A>T p.K1109M Missense 20/29 - 1
2-29446256-G-A c.3311C>T p.S1104F Missense 20/29 - 1
2-29446262-G-T c.3305C>A p.T1102N Missense 20/29 - 1
2-29446264-C-A c.3303G>T p.K1101N Missense 20/29 - 1
2-29446264-C-G c.3303G>C p.K1101N Missense 20/29 - 2
2-29446267-G-A c.3300C>T p.G1100= Synonymous 20/29 - 1
2-29446272-C-T c.3295G>A p.A1099T Missense 20/29 - 2
2-29446272-CAA-C c.3293_3294del p.F1098Cfs*9 Frameshift 20/29 - 1
2-29446274-A-G c.3293T>C p.F1098S Missense 20/29 - 1
2-29446275-A-C c.3292T>G p.F1098V Missense 20/29 - 1
2-29446276-GCA-CTT c.3289_3291delinsAAG p.C1097K Missense 20/29 - 1
2-29446277-CA-GC c.3289_3290delinsGC p.C1097A Missense 20/29 - 2
2-29446277-C-T c.3290G>A p.C1097Y Missense 20/29 - 1
2-29446277-C-G c.3290G>C p.C1097S Missense 20/29 - 2
2-29446278-A-G c.3289T>C p.C1097R Missense 20/29 - 1
2-29446278-A-T c.3289T>A p.C1097S Missense 20/29 - 2
2-29446280-T-A c.3287A>T p.Y1096F Missense 20/29 - 1
2-29446280-TA-GC c.3286_3287delinsGC p.Y1096A Missense 20/29 - 1
2-29446285-G-A c.3282C>T p.P1094= Synonymous 20/29 - 1
2-29446285-G-T c.3282C>A p.P1094= Synonymous 20/29 - 1
2-29446286-G-T c.3281C>A p.P1094H Missense 20/29 - 2
2-29446296-C-T c.3271G>A p.D1091N Missense 20/29 - 22
2-29446307-G-A c.3260C>T p.T1087I Missense 20/29 - 8
2-29446310-G-A c.3257C>T p.S1086L Missense 20/29 - 1
2-29446310-G-C c.3257C>G p.S1086W Missense 20/29 - 1
2-29446316-C-T c.3251G>A p.R1084H Missense 20/29 - 1
2-29446317-G-A c.3250C>T p.R1084C Missense 20/29 - 1
2-29446317-G-C c.3250C>G p.R1084G Missense 20/29 - 1
2-29446317-G-T c.3250C>A p.R1084S Missense 20/29 - 1
2-29446324-G-T c.3243C>A p.S1081R Missense 20/29 - 1
2-29446330-C-A c.3237G>T p.K1079N Missense 20/29 - 1
2-29446330-C-G c.3237G>C p.K1079N Missense 20/29 - 1
2-29446334-T-C c.3233A>G p.Y1078C Missense 20/29 - 1
2-29446338-C-G c.3229G>C p.E1077Q Missense 20/29 - 1
2-29446338-C-T c.3229G>A p.E1077K Missense 20/29 - 1
2-29446339-A-G c.3228T>C p.P1076= Synonymous 20/29 - 1
2-29446344-T-C c.3223A>G p.S1075G Missense 20/29 - 1
2-29446350-G-A c.3217C>T p.L1073= Synonymous 20/29 - 1
2-29446353-C-T c.3214G>A p.E1072K Missense 20/29 - 1
2-29446356-T-A c.3211A>T p.M1071L Missense 20/29 - 1
2-29446356-T-G c.3211A>C p.M1071L Missense 20/29 - 1
2-29446373-T-C c.3194A>G p.E1065G Missense 20/29 - 1
2-29446374-C-T c.3193G>A p.E1065K Missense 20/29 - 1
2-29446376-T-C c.3191A>G p.Q1064R Missense 20/29 - 1
2-29446382-T-A c.3185A>T p.K1062M Missense 20/29 - 13
2-29446385-C-T c.3182G>A p.R1061Q Missense 20/29 - 3
2-29446386-G-A c.3181C>T p.R1061W Missense 20/29 - 1
2-29446388-C-G c.3179G>C p.R1060P Missense 20/29 - 1
2-29446388-C-T c.3179G>A p.R1060H Missense 20/29 - 3
2-29446389-G-A c.3178C>T p.R1060C Missense 20/29 - 2
2-29446721-A-G c.3173-327T>C - IntronicSNV - 19/28 1
2-29447108-G-A c.3173-714C>T - IntronicSNV - 19/28 1
2-29447407-C-T c.3172+920G>A - IntronicSNV - 19/28 1
2-29447605-T-C c.3172+722A>G - IntronicSNV - 19/28 1
2-29447615-T-C c.3172+712A>G - IntronicSNV - 19/28 1
2-29448126-C-T c.3172+201G>A - IntronicSNV - 19/28 1
2-29448336-T-A c.3163A>T p.I1055F Missense 19/29 - 1
2-29448339-C-T c.3160G>A p.G1054S Missense 19/29 - 2
2-29448343-G-C c.3156C>G p.F1052L Missense 19/29 - 1
2-29448343-G-T c.3156C>A p.F1052L Missense 19/29 - 1
2-29448345-A-G c.3154T>C p.F1052L Missense 19/29 - 1
2-29448358-GGC-TTA c.3139_3141delinsTAA p.A1047* Nonsense 19/29 - 1
2-29448359-GC-CG c.3139_3140delinsCG p.A1047R Missense 19/29 - 2
2-29448366-C-G c.3133G>C p.V1045L Missense 19/29 - 1
2-29448366-C-T c.3133G>A p.V1045M Missense 19/29 - 1
2-29448381-C-T c.3118G>A p.V1040M Missense 19/29 - 1
2-29448384-C-T c.3115G>A p.V1039M Missense 19/29 - 1
2-29448397-C-A c.3102G>T p.S1034= Synonymous 19/29 - 1
2-29448397-C-G c.3102G>C p.S1034= Synonymous 19/29 - 1
2-29448397-C-T c.3102G>A p.S1034= Synonymous 19/29 - 1
2-29448398-G-C c.3101C>G p.S1034W Missense 19/29 - 1
2-29448410-T-G c.3089A>C p.H1030P Missense 19/29 - 2
2-29448413-G-C c.3086C>G p.P1029R Missense 19/29 - 1
2-29448413-G-T c.3086C>A p.P1029Q Missense 19/29 - 1
2-29448417-C-G c.3082G>C p.E1028Q Missense 19/29 - 1
2-29448419-G-A c.3080C>T p.P1027L Missense 19/29 - 1
2-29448420-G-A c.3079C>T p.P1027S Missense 19/29 - 1
2-29448423-T-G c.3076A>C p.T1026P Missense 19/29 - 1
2-29448431-A-C c.3068T>G p.V1023G Missense 19/29 - 1
2-29448443-G-A c.3068-12C>T - IntronicSNV - 18/28 1
2-29448443-G-T c.3068-12C>A - IntronicSNV - 18/28 1
2-29448846-C-G c.3068-415G>C - IntronicSNV - 18/28 1
2-29449762-T-C c.3067+26A>G - IntronicSNV - 18/28 1
2-29449788-C-G c.3067G>C p.V1023L Missense 18/29 - 1
2-29449798-G-C c.3057C>G p.V1019= Synonymous 18/29 - 1
2-29449802-C-T c.3053G>A p.G1018D Missense 18/29 - 1
2-29449816-C-G c.3039G>C p.V1013= Synonymous 18/29 - 1
2-29449819-C-A c.3036G>T p.T1012= Synonymous 18/29 - 1
2-29449819-C-G c.3036G>C p.T1012= Synonymous 18/29 - 1
2-29449819-C-T c.3036G>A p.T1012= Synonymous 18/29 - 3
2-29449820-G-A c.3035C>T p.T1012M Missense 18/29 - 6
2-29449822-C-A c.3033G>T p.G1011= Synonymous 18/29 - 1
2-29449822-C-G c.3033G>C p.G1011= Synonymous 18/29 - 1
2-29449822-C-T c.3033G>A p.G1011= Synonymous 18/29 - 1
2-29449824-C-T c.3031G>A p.G1011R Missense 18/29 - 2
2-29449847-TT-GC c.3007_3008delinsGC p.K1003A Missense 18/29 - 1
2-29449848-T-C c.3007A>G p.K1003E Missense 18/29 - 1
2-29449855-TTC-CAT c.2998_3000delinsATG p.E1000M Missense 18/29 - 2
2-29449867-G-T c.2988C>A p.H996Q Missense 18/29 - 1
2-29449876-G-T c.2979C>A p.D993E Missense 18/29 - 1
2-29449880-A-C c.2975T>G p.V992G Missense 18/29 - 1
2-29449885-A-C c.2970T>G p.C990W Missense 18/29 - 1
2-29449904-TA-GC c.2950_2951delinsGC p.Y984A Missense 18/29 - 1
2-29449919-A-T c.2936T>A p.V979E Missense 18/29 - 1
2-29449926-C-T c.2929G>A p.G977R Missense 18/29 - 3
2-29449927-G-A c.2928C>T p.H976= Synonymous 18/29 - 1
2-29449935-C-T c.2920G>A p.E974K Missense 18/29 - 1
2-29449959-G-A c.2915-19C>T - IntronicSNV - 17/28 1
2-29450383-G-A c.2914+57C>T - IntronicSNV - 17/28 1
2-29450393-A-G c.2914+47T>C - IntronicSNV - 17/28 1
2-29450487-A-C c.2867T>G p.V956G Missense 17/29 - 1
2-29450488-C-A c.2866G>T p.V956F Missense 17/29 - 1
2-29450503-C-A c.2851G>T p.D951Y Missense 17/29 - 1
2-29450503-C-T c.2851G>A p.D951N Missense 17/29 - 1
2-29450509-C-T c.2845G>A p.E949K Missense 17/29 - 2
2-29450512-G-A c.2842C>T p.P948S Missense 17/29 - 1
2-29450509-CG-C c.2844del p.E949Kfs*22 Frameshift 17/29 - 1
2-29450515-C-A c.2839G>T p.D947Y Missense 17/29 - 1
2-29450523-G-C c.2831C>G p.S944* Nonsense 17/29 - 1
2-29450521-TTGAGGC-T c.2827_2832del p.A943_S944del InFrameDeletion 17/29 - 1
2-29450527-C-T c.2827G>A p.A943T Missense 17/29 - 1
2-29450532-T-C c.2822A>G p.N941S Missense 17/29 - 1
2-29450536-C-A c.2818G>T p.G940C Missense 17/29 - 1
2-29450536-C-T c.2818G>A p.G940S Missense 17/29 - 1
2-29450537-G-A c.2817C>T p.G939= Synonymous 17/29 - 1
2-29450538-C-T c.2816G>A p.G939D Missense 17/29 - 1
2-29451727-C-T c.2815+23G>A - IntronicSNV - 16/28 1
2-29451752-A-G c.2813T>C p.I938T Missense 16/29 - 1
2-29451757-TCC-GCT c.2806_2808delinsAGC p.G936S Missense 16/29 - 1
2-29451758-C-T c.2807G>A p.G936E Missense 16/29 - 1
2-29451759-C-G c.2806G>C p.G936R Missense 16/29 - 1
2-29451759-C-T c.2806G>A p.G936R Missense 16/29 - 1
2-29451761-C-A c.2804G>T p.G935V Missense 16/29 - 1
2-29451762-C-T c.2803G>A p.G935R Missense 16/29 - 1
2-29451764-C-T c.2801G>A p.G934D Missense 16/29 - 1
2-29451776-G-A c.2789C>T p.S930L Missense 16/29 - 1
2-29451782-C-T c.2783G>A p.C928Y Missense 16/29 - 1
2-29451782-C-CA c.2782dup p.C928Lfs*20 Frameshift 16/29 - 2
2-29451783-A-C c.2782T>G p.C928G Missense 16/29 - 1
2-29451783-CA-C c.2782del p.C928Afs*11 Frameshift 16/29 - 1
2-29451786-C-A c.2779G>T p.G927W Missense 16/29 - 1
2-29451788-C-A c.2777G>T p.G926V Missense 16/29 - 1
2-29451788-C-G c.2777G>C p.G926A Missense 16/29 - 1
2-29451788-C-T c.2777G>A p.G926E Missense 16/29 - 1
2-29451789-C-G c.2776G>C p.G926R Missense 16/29 - 1
2-29451789-C-T c.2776G>A p.G926R Missense 16/29 - 1
2-29451791-C-G c.2774G>C p.G925A Missense 16/29 - 1
2-29451795-C-G c.2770G>C p.G924R Missense 16/29 - 1
2-29451795-C-T c.2770G>A p.G924S Missense 16/29 - 2
2-29451797-C-T c.2768G>A p.G923E Missense 16/29 - 1
2-29451798-CCTCCGAA-C c.2761_2767del p.F921Gfs*16 Frameshift 16/29 - 1
2-29451799-T-C c.2766A>G p.G922= Synonymous 16/29 - 1
2-29451800-C-T c.2765G>A p.G922E Missense 16/29 - 1
2-29451801-C-T c.2764G>A p.G922R Missense 16/29 - 1
2-29451803-A-C c.2762T>G p.F921C Missense 16/29 - 2
2-29451802-G-C c.2763C>G p.F921L Missense 16/29 - 3
2-29451802-G-T c.2763C>A p.F921L Missense 16/29 - 2
2-29451804-A-G c.2761T>C p.F921L Missense 16/29 - 2
2-29451806-C-T c.2759G>A p.G920D Missense 16/29 - 1
2-29451811-T-C c.2754A>G p.R918= Synonymous 16/29 - 1
2-29451821-C-A c.2744G>T p.W915L Missense 16/29 - 1
2-29451827-C-G c.2738G>C p.W913S Missense 16/29 - 1
2-29451830-T-C c.2735A>G p.K912R Missense 16/29 - 1
2-29451832-C-A c.2733G>T p.K911N Missense 16/29 - 1
2-29451832-C-G c.2733G>C p.K911N Missense 16/29 - 1
2-29451833-T-G c.2732A>C p.K911T Missense 16/29 - 2
2-29451835-C-T c.2730G>A p.M910I Missense 16/29 - 1
2-29451849-A-C c.2716T>G p.C906G Missense 16/29 - 1
2-29451851-G-A c.2714C>T p.S905F Missense 16/29 - 1
2-29451853-A-G c.2712T>C p.H904= Synonymous 16/29 - 1
2-29451861-C-G c.2704G>C p.G902R Missense 16/29 - 1
2-29451861-C-T c.2704G>A p.G902R Missense 16/29 - 2
2-29451871-C-A c.2694G>T p.E898D Missense 16/29 - 1
2-29451871-C-G c.2694G>C p.E898D Missense 16/29 - 1
2-29451873-C-T c.2692G>A p.E898K Missense 16/29 - 1
2-29451885-T-G c.2680A>C p.K894Q Missense 16/29 - 1
2-29451887-C-T c.2678G>A p.G893E Missense 16/29 - 1
2-29451888-C-T c.2677G>A p.G893R Missense 16/29 - 2
2-29451889-G-A c.2676C>T p.A892= Synonymous 16/29 - 1
2-29451894-A-G c.2671T>C p.W891R Missense 16/29 - 1
2-29451894-A-T c.2671T>A p.W891R Missense 16/29 - 1
2-29451911-T-G c.2654A>C p.D885A Missense 16/29 - 1
2-29451923-C-T c.2642G>A p.G881D Missense 16/29 - 2
2-29451924-C-T c.2641G>A p.G881S Missense 16/29 - 1
2-29451926-C-T c.2639G>A p.G880E Missense 16/29 - 1
2-29451930-C-T c.2635G>A p.G879S Missense 16/29 - 1
2-29451957-C-A c.2633-25G>T - IntronicSNV - 15/28 1
2-29451957-C-T c.2633-25G>A - IntronicSNV - 15/28 1
2-29454701-A-G c.2632+469T>C - IntronicSNV - 15/28 1
2-29455142-G-T c.2632+28C>A - IntronicSNV - 15/28 1
2-29455173-C-A c.2629G>T p.A877S Missense 15/29 - 2
2-29455173-C-T c.2629G>A p.A877T Missense 15/29 - 2
2-29455178-C-T c.2624G>A p.G875E Missense 15/29 - 3
2-29455179-C-G c.2623G>C p.G875R Missense 15/29 - 2
2-29455179-C-T c.2623G>A p.G875R Missense 15/29 - 3
2-29455180-CGGAATTGCCGTTTAGCCCTAGAACCGAGGAGTTA-C c.2589_2622del p.N863Kfs*37 Frameshift 15/29 - 1
2-29455188-C-T c.2614G>A p.G872S Missense 15/29 - 4
2-29455189-G-A c.2613C>T p.N871= Synonymous 15/29 - 1
2-29455195-C-T c.2607G>A p.G869= Synonymous 15/29 - 1
2-29455194-GC-G c.2607del p.L870* Frameshift 15/29 - 1
2-29455198-TAG-CAT c.2602_2604delinsATG p.L868M Missense 15/29 - 1
2-29455199-A-C c.2603T>G p.L868R Missense 15/29 - 2
2-29455204-C-T c.2598G>A p.S866= Synonymous 15/29 - 1
2-29455220-AG-TA c.2581_2582delinsTA p.L861* Nonsense 15/29 - 1
2-29455220-A-T c.2582T>A p.L861Q Missense 15/29 - 18
2-29455231-G-A c.2571C>T p.H857= Synonymous 15/29 - 1
2-29455235-A-G c.2567T>C p.F856S Missense 15/29 - 2
2-29455238-G-A c.2564C>T p.T855M Missense 15/29 - 1
2-29455239-T-C c.2563A>G p.T855A Missense 15/29 - 1
2-29455255-GTA-CTT c.2545_2547delinsAAG p.Y849K Missense 15/29 - 1
2-29455260-C-T c.2542G>A p.A848T Missense 15/29 - 1
2-29455266-C-T c.2536G>A p.G846S Missense 15/29 - 1
2-29455267-A-C c.2535T>G p.G845= Synonymous 15/29 - 1
2-29455267-A-G c.2535T>C p.G845= Synonymous 15/29 - 4
2-29455267-A-T c.2535T>A p.G845= Synonymous 15/29 - 1
2-29455275-C-T c.2527G>A p.G843R Missense 15/29 - 1
2-29455276-G-A c.2526C>T p.A842= Synonymous 15/29 - 1
2-29455278-C-G c.2524G>C p.A842P Missense 15/29 - 1
2-29455281-C-T c.2521G>A p.A841T Missense 15/29 - 1
2-29455284-T-G c.2518A>C p.I840L Missense 15/29 - 1
2-29455292-G-A c.2510C>T p.P837L Missense 15/29 - 1
2-29455300-CAC-AAGAAA c.2500_2502delinsTTTCTT p.V834delinsFL MultiAAMissense 15/29 - 1
2-29455308-C-T c.2494G>A p.D832N Missense 15/29 - 1
2-29455309-C-G c.2493G>C p.K831N Missense 15/29 - 1
2-29456384-T-C c.2487+47A>G - IntronicSNV - 14/28 1
2-29456385-G-A c.2487+46C>T - IntronicSNV - 14/28 1
2-29456440-G-C c.2478C>G p.Y826* Nonsense 14/29 - 1
2-29456440-G-T c.2478C>A p.Y826* Nonsense 14/29 - 1
2-29456446-G-A c.2472C>T p.A824= Synonymous 14/29 - 1
2-29456449-TC-GT c.2468_2469delinsAC p.G823D Missense 14/29 - 1
2-29456462-C-G c.2456G>C p.G819A Missense 14/29 - 1
2-29456464-TCC-GCT c.2452_2454delinsAGC p.G818S Missense 14/29 - 1
2-29456465-C-G c.2453G>C p.G818A Missense 14/29 - 1
2-29456465-C-T c.2453G>A p.G818E Missense 14/29 - 1
2-29456466-C-G c.2452G>C p.G818R Missense 14/29 - 1
2-29456466-C-T c.2452G>A p.G818R Missense 14/29 - 2
2-29456468-C-T c.2450G>A p.G817D Missense 14/29 - 1
2-29456471-C-T c.2447G>A p.G816E Missense 14/29 - 2
2-29456472-C-G c.2446G>C p.G816R Missense 14/29 - 1
2-29456477-C-A c.2441G>T p.W814L Missense 14/29 - 1
2-29456484-G-T c.2434C>A p.H812N Missense 14/29 - 1
2-29456486-A-T c.2432T>A p.V811E Missense 14/29 - 1
2-29456487-C-T c.2431G>A p.V811M Missense 14/29 - 1
2-29456489-C-A c.2429G>T p.S810I Missense 14/29 - 1
2-29456492-C-T c.2426G>A p.R809K Missense 14/29 - 1
2-29456501-C-A c.2417G>T p.R806L Missense 14/29 - 1
2-29456501-C-T c.2417G>A p.R806H Missense 14/29 - 3
2-29456502-G-A c.2416C>T p.R806C Missense 14/29 - 3
2-29456502-G-C c.2416C>G p.R806G Missense 14/29 - 1
2-29456505-TTTC-T c.2410_2412del p.E804del InFrameDeletion 14/29 - 1
2-29456527-C-T c.2391G>A p.E797= Synonymous 14/29 - 1
2-29456532-C-T c.2386G>A p.G796R Missense 14/29 - 1
2-29462520-G-A c.2355+26C>T - IntronicSNV - 13/28 1
2-29462547-C-A c.2354G>T p.S785I Missense 13/29 - 1
2-29462547-CT-AG c.2353_2354inv p.S785L Missense 13/29 - 1
2-29462551-G-A c.2350C>T p.P784S Missense 13/29 - 1
2-29462553-C-T c.2348G>A p.C783Y Missense 13/29 - 1
2-29462556-G-A c.2345C>T p.A782V Missense 13/29 - 1
2-29462560-C-T c.2341G>A p.D781N Missense 13/29 - 1
2-29462561-C-T c.2340G>A p.E780= Synonymous 13/29 - 1
2-29462565-C-T c.2336G>A p.G779E Missense 13/29 - 1
2-29462571-T-G c.2330A>C p.Q777P Missense 13/29 - 1
2-29462573-CC-TACTA c.2327_2328delinsTAGTA p.G776delinsVV MultiAAMissense 13/29 - 1
2-29462586-T-G c.2315A>C p.Y772S Missense 13/29 - 1
2-29462590-G-T c.2311C>A p.L771M Missense 13/29 - 1
2-29462590-G-GCATCACGTATGC c.2310_2311insGCATACGTGATG p.M770_L771insAYVM InFrameInsertion 13/29 - 1
2-29462596-C-A c.2305G>T p.D769Y Missense 13/29 - 4
2-29462596-C-G c.2305G>C p.D769H Missense 13/29 - 2
2-29462598-T-G c.2303A>C p.D768A Missense 13/29 - 1
2-29462602-TTCTCCAG-T c.2293_2299del p.L765Rfs*23 Frameshift 13/29 - 1
2-29462607-A-G c.2294T>C p.L765P Missense 13/29 - 1
2-29462609-G-C c.2292C>G p.N764K Missense 13/29 - 1
2-29462609-G-T c.2292C>A p.N764K Missense 13/29 - 1
2-29462615-G-A c.2286C>T p.I762= Synonymous 13/29 - 1
2-29462615-G-T c.2286C>A p.I762= Synonymous 13/29 - 1
2-29462617-T-C c.2284A>G p.I762V Missense 13/29 - 1
2-29462625-A-T c.2276T>A p.V759E Missense 13/29 - 1
2-29462626-C-T c.2275G>A p.V759M Missense 13/29 - 2
2-29462628-GA-AT c.2272_2273delinsAT p.S758I Missense 13/29 - 1
2-29462630-AC-A c.2271del p.S758Lfs*32 Frameshift 13/29 - 1
2-29462632-C-A c.2269G>T p.V757L Missense 13/29 - 1
2-29462632-C-G c.2269G>C p.V757L Missense 13/29 - 1
2-29462632-C-T c.2269G>A p.V757M Missense 13/29 - 1
2-29462635-C-T c.2266G>A p.G756S Missense 13/29 - 1
2-29462637-T-G c.2264A>C p.H755P Missense 13/29 - 1
2-29462643-C-A c.2258G>T p.R753L Missense 13/29 - 1
2-29462643-C-T c.2258G>A p.R753Q Missense 13/29 - 4
2-29462644-G-A c.2257C>T p.R753W Missense 13/29 - 2
2-29462644-G-C c.2257C>G p.R753G Missense 13/29 - 1
2-29462646-A-G c.2255T>C p.M752T Missense 13/29 - 1
2-29462648-C-T c.2253G>A p.M751I Missense 13/29 - 1
2-29462649-ATGG-A c.2249_2251del p.T750del InFrameDeletion 13/29 - 2
2-29462650-TG-T c.2250del p.M751* Frameshift 13/29 - 1
2-29462662-C-T c.2239G>A p.G747R Missense 13/29 - 1
2-29462663-GC-ACATA c.2237_2238delinsTATGT p.G746delinsVC MultiAAMissense 13/29 - 1
2-29462663-GC-CT c.2237_2238delinsAG p.G746E Missense 13/29 - 1
2-29462665-C-T c.2236G>A p.G746S Missense 13/29 - 1
2-29462667-TT-GC c.2233_2234delinsGC p.K745A Missense 13/29 - 1
2-29462670-C-A c.2231G>T p.G744V Missense 13/29 - 1
2-29462671-C-G c.2230G>C p.G744R Missense 13/29 - 2
2-29462671-C-T c.2230G>A p.G744R Missense 13/29 - 3
2-29462681-TC-GT c.2219_2220delinsAC p.G740D Missense 13/29 - 1
2-29462683-C-T c.2218G>A p.G740R Missense 13/29 - 1
2-29462691-G-A c.2210C>T p.S737L Missense 13/29 - 1
2-29473922-T-C c.2204+49A>G - IntronicSNV - 12/28 1
2-29473926-C-A c.2204+45G>T - IntronicSNV - 12/28 1
2-29473926-C-T c.2204+45G>A - IntronicSNV - 12/28 1
2-29473999-A-G c.2176T>C p.W726R Missense 12/29 - 1
2-29473999-A-T c.2176T>A p.W726R Missense 12/29 - 1
2-29474010-C-A c.2165G>T p.G722V Missense 12/29 - 1
2-29474012-TT-CA c.2162_2163delinsTG p.K721M Missense 12/29 - 3
2-29474013-T-C c.2162A>G p.K721R Missense 12/29 - 1
2-29474020-G-A c.2155C>T p.P719S Missense 12/29 - 1
2-29474021-GCC-TCA c.2152_2154delinsTGA p.G718* Nonsense 12/29 - 3
2-29474024-C-A c.2151G>T p.E717D Missense 12/29 - 1
2-29474026-C-T c.2149G>A p.E717K Missense 12/29 - 1
2-29474028-C-A c.2147G>T p.S716I Missense 12/29 - 1
2-29474033-CAC-GAT c.2140_2142delinsATC p.V714I Missense 12/29 - 1
2-29474036-C-A c.2139G>T p.E713D Missense 12/29 - 1
2-29474036-C-G c.2139G>C p.E713D Missense 12/29 - 1
2-29474041-C-T c.2134G>A p.V712M Missense 12/29 - 2
2-29474043-C-A c.2132G>T p.S711I Missense 12/29 - 1
2-29474065-C-T c.2110G>A p.A704T Missense 12/29 - 1
2-29474066-G-A c.2109C>T p.N703= Synonymous 12/29 - 1
2-29474068-T-A c.2107A>T p.N703Y Missense 12/29 - 1
2-29474073-C-T c.2102G>A p.C701Y Missense 12/29 - 1
2-29474081-C-A c.2094G>T p.Q698H Missense 12/29 - 1
2-29474092-C-T c.2083G>A p.G695S Missense 12/29 - 3
2-29474094-T-C c.2081A>G p.H694R Missense 12/29 - 4
2-29474094-T-G c.2081A>C p.H694P Missense 12/29 - 2
2-29474094-TG-GC c.2080_2081delinsGC p.H694A Missense 12/29 - 1
2-29474095-G-A c.2080C>T p.H694Y Missense 12/29 - 1
2-29474095-G-C c.2080C>G p.H694D Missense 12/29 - 1
2-29474098-G-A c.2077C>T p.P693S Missense 12/29 - 2
2-29474099-C-A c.2076G>T p.G692= Synonymous 12/29 - 1
2-29474099-C-G c.2076G>C p.G692= Synonymous 12/29 - 1
2-29474099-C-T c.2076G>A p.G692= Synonymous 12/29 - 1
2-29474101-C-A c.2074G>T p.G692W Missense 12/29 - 1
2-29474101-C-T c.2074G>A p.G692R Missense 12/29 - 2
2-29474102-G-C c.2073C>G p.S691R Missense 12/29 - 2
2-29474102-GC-CA c.2072_2073delinsTG p.S691M Missense 12/29 - 1
2-29474103-C-A c.2072G>T p.S691I Missense 12/29 - 1
2-29474104-T-G c.2071A>C p.S691R Missense 12/29 - 1
2-29474110-C-G c.2065G>C p.G689R Missense 12/29 - 1
2-29474110-C-T c.2065G>A p.G689R Missense 12/29 - 1
2-29474113-A-G c.2062T>C p.C688R Missense 12/29 - 1
2-29474126-C-G c.2049G>C p.W683C Missense 12/29 - 1
2-29474165-G-A c.2042-32C>T - IntronicSNV - 11/28 1
2-29474168-G-A c.2042-35C>T - IntronicSNV - 11/28 1
2-29486078-G-A c.2041+11887C>T - IntronicSNV - 11/28 1
2-29487275-C-G c.2041+10690G>C - IntronicSNV - 11/28 1
2-29487275-C-T c.2041+10690G>A - IntronicSNV - 11/28 1
2-29497921-C-A c.2041+44G>T - IntronicSNV - 11/28 1
2-29497965-C-G c.2041G>C p.V681L Missense 11/29 - 1
2-29497967-G-A c.2039C>T p.T680I Missense 11/29 - 2
2-29497975-A-G c.2031T>C p.F677= Synonymous 11/29 - 1
2-29497980-T-G c.2026A>C p.I676L Missense 11/29 - 1
2-29497984-GG-CA c.2021_2022delinsTG p.T674M Missense 11/29 - 1
2-29497985-G-A c.2021C>T p.T674I Missense 11/29 - 11
2-29497990-T-A c.2016A>T p.R672S Missense 11/29 - 1
2-29497990-T-G c.2016A>C p.R672S Missense 11/29 - 1
2-29497995-G-A c.2011C>T p.P671S Missense 11/29 - 2
2-29498005-CCC-ACA c.1999_2001delinsTGT p.G667C Missense 11/29 - 8
2-29498005-CCC-GCT c.1999_2001delinsAGC p.G667S Missense 11/29 - 1
2-29498007-C-T c.1999G>A p.G667R Missense 11/29 - 1
2-29498009-G-A c.1997C>T p.P666L Missense 11/29 - 1
2-29498017-C-T c.1989G>A p.E663= Synonymous 11/29 - 1
2-29498030-TT-AG c.1975_1976delinsCT p.N659L Missense 11/29 - 1
2-29498031-T-A c.1975A>T p.N659Y Missense 11/29 - 1
2-29498039-AA-TC c.1966_1967delinsGA p.F656D Missense 11/29 - 1
2-29498042-AG-TT c.1963_1964delinsAA p.L655K Missense 11/29 - 1
2-29498043-G-T c.1963C>A p.L655M Missense 11/29 - 1
2-29498045-T-C c.1961A>G p.N654S Missense 11/29 - 1
2-29498045-TT-AG c.1960_1961delinsCT p.N654L Missense 11/29 - 1
2-29498047-TCT-ATG c.1957_1959delinsCAT p.R653H Missense 11/29 - 1
2-29498055-TG-T c.1950del p.K651Nfs*14 Frameshift 11/29 - 1
2-29498063-G-A c.1943C>T p.T648I Missense 11/29 - 1
2-29498066-T-A c.1940A>T p.N647I Missense 11/29 - 1
2-29498084-T-A c.1922A>T p.E641V Missense 11/29 - 1
2-29498084-T-C c.1922A>G p.E641G Missense 11/29 - 1
2-29498088-C-T c.1918G>A p.G640R Missense 11/29 - 1
2-29498089-G-A c.1917C>T p.S639= Synonymous 11/29 - 1
2-29498210-A-G c.1912+58T>C - IntronicSNV - 10/28 3
2-29498271-T-C c.1909A>G p.T637A Missense 10/29 - 1
2-29498273-A-G c.1907T>C p.L636P Missense 10/29 - 1
2-29498283-C-A c.1897G>T p.D633Y Missense 10/29 - 1
2-29498288-C-A c.1892G>T p.S631I Missense 10/29 - 1
2-29498290-G-C c.1890C>G p.I630M Missense 10/29 - 1
2-29498294-G-A c.1886C>T p.S629F Missense 10/29 - 1
2-29498304-C-G c.1876G>C p.D626H Missense 10/29 - 1
2-29498306-A-G c.1874T>C p.F625S Missense 10/29 - 1
2-29498313-C-T c.1867G>A p.V623M Missense 10/29 - 2
2-29498314-CGA-C c.1865_1866del p.I622Sfs*4 Frameshift 10/29 - 1
2-29498324-G-A c.1856C>T p.S619F Missense 10/29 - 1
2-29498327-C-T c.1853G>A p.G618E Missense 10/29 - 1
2-29498334-C-G c.1846G>C p.G616R Missense 10/29 - 1
2-29498343-C-T c.1837G>A p.A613T Missense 10/29 - 1
2-29498352-G-A c.1828C>T p.Q610* Nonsense 10/29 - 1
2-29498353-C-T c.1827G>A p.L609= Synonymous 10/29 - 1
2-29505824-G-T c.1818-7462C>A - IntronicSNV - 9/28 1
2-29513404-G-A c.1817+6350C>T - IntronicSNV - 9/28 2
2-29513404-G-C c.1817+6350C>G - IntronicSNV - 9/28 2
2-29513404-G-T c.1817+6350C>A - IntronicSNV - 9/28 2
2-29514509-C-T c.1817+5245G>A - IntronicSNV - 9/28 1
2-29519715-T-C c.1817+39A>G - IntronicSNV - 9/28 1
2-29519760-GA-CC c.1810_1811delinsGG p.S604G Missense 9/29 - 1
2-29519775-G-A c.1796C>T p.P599L Missense 9/29 - 1
2-29519781-A-G c.1790T>C p.V597A Missense 9/29 - 2
2-29519782-C-A c.1789G>T p.V597L Missense 9/29 - 1
2-29519784-A-G c.1787T>C p.M596T Missense 9/29 - 1
2-29519815-C-T c.1756G>A p.A586T Missense 9/29 - 2
2-29519816-G-A c.1755C>T p.A585= Synonymous 9/29 - 1
2-29519818-C-T c.1753G>A p.A585T Missense 9/29 - 5
2-29519819-G-A c.1752C>T p.V584= Synonymous 9/29 - 1
2-29519819-G-C c.1752C>G p.V584= Synonymous 9/29 - 1
2-29519819-G-T c.1752C>A p.V584= Synonymous 9/29 - 1
2-29519827-A-T c.1744T>A p.W582R Missense 9/29 - 1
2-29519831-C-T c.1740G>A p.M580I Missense 9/29 - 1
2-29519835-C-T c.1736G>A p.R579K Missense 9/29 - 1
2-29519837-GCC-TCA c.1732_1734delinsTGA p.G578* Nonsense 9/29 - 1
2-29519842-G-C c.1729C>G p.Q577E Missense 9/29 - 1
2-29519846-C-A c.1725G>T p.K575N Missense 9/29 - 1
2-29519846-C-G c.1725G>C p.K575N Missense 9/29 - 1
2-29519847-T-A c.1724A>T p.K575M Missense 9/29 - 1
2-29519853-G-A c.1718C>T p.T573I Missense 9/29 - 1
2-29519865-A-T c.1706T>A p.V569E Missense 9/29 - 1
2-29519881-C-T c.1690G>A p.V564M Missense 9/29 - 1
2-29519882-G-A c.1689C>T p.N563= Synonymous 9/29 - 1
2-29519887-C-T c.1684G>A p.G562R Missense 9/29 - 1
2-29519888-C-T c.1683G>A p.R561= Synonymous 9/29 - 1
2-29519890-T-G c.1681A>C p.R561= Synonymous 9/29 - 1
2-29519891-C-A c.1680G>T p.L560F Missense 9/29 - 3
2-29519891-C-G c.1680G>C p.L560F Missense 9/29 - 3
2-29519891-C-T c.1680G>A p.L560= Synonymous 9/29 - 1
2-29519893-A-T c.1678T>A p.L560M Missense 9/29 - 1
2-29519895-A-T c.1676T>A p.V559D Missense 9/29 - 5
2-29519898-C-A c.1673G>T p.G558V Missense 9/29 - 1
2-29519899-C-T c.1672G>A p.G558R Missense 9/29 - 1
2-29519902-G-A c.1669C>T p.R557C Missense 9/29 - 2
2-29519909-C-T c.1662G>A p.W554* Nonsense 9/29 - 1
2-29519910-C-G c.1661G>C p.W554S Missense 9/29 - 1
2-29519910-C-T c.1661G>A p.W554* Nonsense 9/29 - 1
2-29519915-C-T c.1656G>A p.M552I Missense 9/29 - 1
2-29519919-C-T c.1652G>A p.R551Q Missense 9/29 - 2
2-29519923-G-A c.1648C>T p.L550F Missense 9/29 - 3
2-29519923-G-T c.1648C>A p.L550I Missense 9/29 - 1
2-29520085-G-A c.1648-162C>T - IntronicSNV - 8/28 1
2-29520085-G-C c.1648-162C>G - IntronicSNV - 8/28 1
2-29520085-G-T c.1648-162C>A - IntronicSNV - 8/28 1
2-29533736-C-T c.1647+7434G>A - IntronicSNV - 8/28 1
2-29533782-C-T c.1647+7388G>A - IntronicSNV - 8/28 1
2-29535197-C-T c.1647+5973G>A - IntronicSNV - 8/28 1
2-29538411-G-A c.1647+2759C>T - IntronicSNV - 8/28 2
2-29541096-T-C c.1647+74A>G - IntronicSNV - 8/28 1
2-29541104-C-A c.1647+66G>T - IntronicSNV - 8/28 1
2-29541104-C-G c.1647+66G>C - IntronicSNV - 8/28 1
2-29541104-C-T c.1647+66G>A - IntronicSNV - 8/28 2
2-29541116-A-G c.1647+54T>C - IntronicSNV - 8/28 1
2-29541191-C-T c.1626G>A p.P542= Synonymous 8/29 - 1
2-29541192-G-C c.1625C>G p.P542R Missense 8/29 - 2
2-29541195-G-A c.1622C>T p.A541V Missense 8/29 - 1
2-29541204-G-A c.1613C>T p.T538M Missense 8/29 - 1
2-29541209-ACT-CTC c.1606_1608delinsGAG p.S536E Missense 8/29 - 1
2-29541213-G-T c.1604C>A p.T535N Missense 8/29 - 1
2-29541216-A-G c.1601T>C p.V534A Missense 8/29 - 1
2-29541224-ACT-CCA c.1591_1593delinsTGG p.S531W Missense 8/29 - 1
2-29541225-CT-AG c.1591_1592inv p.S531L Missense 8/29 - 1
2-29541229-C-G c.1588G>C p.E530Q Missense 8/29 - 2
2-29541231-G-T c.1586C>A p.S529Y Missense 8/29 - 1
2-29541235-C-T c.1582G>A p.A528T Missense 8/29 - 1
2-29541236-G-C c.1581C>G p.P527= Synonymous 8/29 - 1
2-29541241-C-T c.1576G>A p.V526I Missense 8/29 - 1
2-29541248-GG-CA c.1568_1569delinsTG p.T523M Missense 8/29 - 1
2-29541249-G-A c.1568C>T p.T523I Missense 8/29 - 1
2-29541256-G-T c.1561C>A p.L521I Missense 8/29 - 1
2-29541261-A-G c.1556T>C p.L519P Missense 8/29 - 1
2-29541264-G-A c.1553C>T p.A518V Missense 8/29 - 1
2-29541270-T-A c.1547A>T p.D516V Missense 8/29 - 1
2-29541299-C-A c.1547-29G>T - IntronicSNV - 7/28 1
2-29541299-C-T c.1547-29G>A - IntronicSNV - 7/28 1
2-29542340-C-G c.1547-1070G>C - IntronicSNV - 7/28 1
2-29542340-C-T c.1547-1070G>A - IntronicSNV - 7/28 1
2-29542498-T-C c.1546+1119A>G - IntronicSNV - 7/28 1
2-29543023-C-T c.1546+594G>A - IntronicSNV - 7/28 1
2-29543135-A-G c.1546+482T>C - IntronicSNV - 7/28 1
2-29543514-C-T c.1546+103G>A - IntronicSNV - 7/28 1
2-29543617-C-A c.1546G>T p.D516Y Missense 7/29 - 1
2-29543624-G-A c.1539C>T p.D513= Synonymous 7/29 - 1
2-29543631-A-C c.1532T>G p.F511C Missense 7/29 - 1
2-29543633-CCG-ACA c.1528_1530delinsTGT p.R510C Missense 7/29 - 1
2-29543635-G-A c.1528C>T p.R510W Missense 7/29 - 2
2-29543653-T-A c.1510A>T p.R504W Missense 7/29 - 1
2-29543663-T-C c.1500A>G p.Q500= Synonymous 7/29 - 4
2-29543663-T-G c.1500A>C p.Q500H Missense 7/29 - 1
2-29543676-G-A c.1487C>T p.P496L Missense 7/29 - 2
2-29543687-GCC-CAT c.1474_1476delinsATG p.G492M Missense 7/29 - 1
2-29543687-GCC-TTG c.1474_1476delinsCAA p.G492Q Missense 7/29 - 1
2-29543688-C-A c.1475G>T p.G492V Missense 7/29 - 1
2-29543688-CC-AT c.1474_1475delinsAT p.G492I Missense 7/29 - 1
2-29543688-C-G c.1475G>C p.G492A Missense 7/29 - 1
2-29543692-G-T c.1471C>A p.Q491K Missense 7/29 - 1
2-29543697-C-T c.1466G>A p.W489* Nonsense 7/29 - 1
2-29543699-G-A c.1464C>T p.G488= Synonymous 7/29 - 1
2-29543706-AA-GC c.1456_1457delinsGC p.F486A Missense 7/29 - 1
2-29543706-A-G c.1457T>C p.F486S Missense 7/29 - 2
2-29543724-CA-GC c.1438_1439delinsGC p.C480A Missense 7/29 - 1
2-29543724-C-T c.1439G>A p.C480Y Missense 7/29 - 1
2-29543727-TA-T c.1435del p.Y479Tfs*28 Frameshift 7/29 - 1
2-29543733-C-G c.1430G>C p.G477A Missense 7/29 - 1
2-29543736-A-G c.1427T>C p.V476A Missense 7/29 - 3
2-29543743-G-C c.1420C>G p.L474V Missense 7/29 - 1
2-29544512-C-T c.1415-764G>A - IntronicSNV - 6/28 1
2-29544835-G-C c.1415-1087C>G - IntronicSNV - 6/28 1
2-29544929-C-A c.1415-1181G>T - IntronicSNV - 6/28 1
2-29544929-C-T c.1415-1181G>A - IntronicSNV - 6/28 1
2-29545291-A-T c.1415-1543T>A - IntronicSNV - 6/28 1
2-29545378-T-A c.1415-1630A>T - IntronicSNV - 6/28 1
2-29545378-T-C c.1415-1630A>G - IntronicSNV - 6/28 1
2-29545378-T-G c.1415-1630A>C - IntronicSNV - 6/28 1
2-29546758-G-T c.1415-3010C>A - IntronicSNV - 6/28 1
2-29551161-G-A c.1414+55C>T - IntronicSNV - 6/28 1
2-29551215-C-T c.1414+1G>A - IntronicSNV - 6/28 1
2-29551218-CA-GT c.1411_1412delinsAC p.C471T Missense 6/29 - 1
2-29551225-G-A c.1405C>T p.Q469* Nonsense 6/29 - 1
2-29551226-G-C c.1404C>G p.S468R Missense 6/29 - 3
2-29551226-G-T c.1404C>A p.S468R Missense 6/29 - 3
2-29551228-T-G c.1402A>C p.S468R Missense 6/29 - 3
2-29551231-C-G c.1399G>C p.E467Q Missense 6/29 - 1
2-29551231-C-T c.1399G>A p.E467K Missense 6/29 - 1
2-29551237-C-A c.1393G>T p.E465* Nonsense 6/29 - 1
2-29551237-C-T c.1393G>A p.E465K Missense 6/29 - 1
2-29551239-C-A c.1391G>T p.G464V Missense 6/29 - 1
2-29551239-C-T c.1391G>A p.G464E Missense 6/29 - 1
2-29551240-C-T c.1390G>A p.G464R Missense 6/29 - 1
2-29551243-G-T c.1387C>A p.Q463K Missense 6/29 - 1
2-29551245-G-A c.1385C>T p.A462V Missense 6/29 - 1
2-29551245-G-T c.1385C>A p.A462D Missense 6/29 - 1
2-29551246-C-A c.1384G>T p.A462S Missense 6/29 - 1
2-29551251-T-C c.1379A>G p.D460G Missense 6/29 - 1
2-29551254-T-C c.1376A>G p.Q459R Missense 6/29 - 1
2-29551256-G-T c.1374C>A p.H458Q Missense 6/29 - 1
2-29551266-C-G c.1364G>C p.C455S Missense 6/29 - 1
2-29551267-A-T c.1363T>A p.C455S Missense 6/29 - 1
2-29551274-CCC-ACA c.1354_1356delinsTGT p.G452C Missense 6/29 - 1
2-29551274-CCC-GCT c.1354_1356delinsAGC p.G452S Missense 6/29 - 1
2-29551275-C-G c.1355G>C p.G452A Missense 6/29 - 1
2-29551276-C-A c.1354G>T p.G452W Missense 6/29 - 1
2-29551281-T-A c.1349A>T p.Q450L Missense 6/29 - 1
2-29551287-A-T c.1343T>A p.V448D Missense 6/29 - 1
2-29551292-CCC-GCT c.1336_1338delinsAGC p.G446S Missense 6/29 - 1
2-29551293-C-A c.1337G>T p.G446V Missense 6/29 - 1
2-29551294-C-G c.1336G>C p.G446R Missense 6/29 - 1
2-29551294-C-T c.1336G>A p.G446R Missense 6/29 - 1
2-29551301-A-T c.1329T>A p.C443* Nonsense 6/29 - 1
2-29551302-C-A c.1328G>T p.C443F Missense 6/29 - 1
2-29551306-T-G c.1324A>C p.T442P Missense 6/29 - 1
2-29551311-GA-AT c.1318_1319delinsAT p.S440I Missense 6/29 - 1
2-29551314-CT-AA c.1315_1316delinsTT p.S439F Missense 6/29 - 1
2-29551320-A-G c.1310T>C p.L437P Missense 6/29 - 1
2-29551329-T-C c.1301A>G p.K434R Missense 6/29 - 1
2-29551347-C-A c.1283G>T p.G428V Missense 6/29 - 1
2-29569562-C-A c.1283-18215G>T - IntronicSNV - 5/28 1
2-29569562-C-T c.1283-18215G>A - IntronicSNV - 5/28 1
2-29572299-A-C c.1283-20952T>G - IntronicSNV - 5/28 1
2-29572299-A-G c.1283-20952T>C - IntronicSNV - 5/28 1
2-29574875-T-C c.1283-23528A>G - IntronicSNV - 5/28 1
2-29581762-C-T c.1282+24836G>A - IntronicSNV - 5/28 1
2-29583321-C-T c.1282+23277G>A - IntronicSNV - 5/28 1
2-29586343-C-A c.1282+20255G>T - IntronicSNV - 5/28 1
2-29586343-C-T c.1282+20255G>A - IntronicSNV - 5/28 1
2-29604977-G-T c.1282+1621C>A - IntronicSNV - 5/28 1
2-29606575-G-A c.1282+23C>T - IntronicSNV - 5/28 1
2-29606603-C-A c.1277G>T p.S426I Missense 5/29 - 1
2-29606606-C-G c.1274G>C p.C425S Missense 5/29 - 1
2-29606607-A-T c.1273T>A p.C425S Missense 5/29 - 1
2-29606611-C-T c.1269G>A p.K423= Synonymous 5/29 - 1
2-29606612-T-C c.1268A>G p.K423R Missense 5/29 - 1
2-29606620-A-G c.1260T>C p.F420= Synonymous 5/29 - 1
2-29606637-A-G c.1243T>C p.S415P Missense 5/29 - 1
2-29606639-A-G c.1241T>C p.L414S Missense 5/29 - 1
2-29606640-A-C c.1240T>G p.L414V Missense 5/29 - 1
2-29606642-C-T c.1238G>A p.S413N Missense 5/29 - 1
2-29606645-C-T c.1235G>A p.R412H Missense 5/29 - 2
2-29606646-G-A c.1234C>T p.R412C Missense 5/29 - 4
2-29606646-G-T c.1234C>A p.R412S Missense 5/29 - 1
2-29606648-T-C c.1232A>G p.N411S Missense 5/29 - 1
2-29606652-C-T c.1228G>A p.G410R Missense 5/29 - 1
2-29606657-G-A c.1223C>T p.S408F Missense 5/29 - 1
2-29606657-GGAGATGTA-G c.1216_1223del p.Y406Qfs*19 Frameshift 5/29 - 1
2-29606663-TA-GC c.1216_1217delinsGC p.Y406A Missense 5/29 - 1
2-29606666-T-C c.1214A>G p.E405G Missense 5/29 - 1
2-29606667-C-A c.1213G>T p.E405* Nonsense 5/29 - 1
2-29606673-C-T c.1207G>A p.A403T Missense 5/29 - 1
2-29606676-C-T c.1204G>A p.V402M Missense 5/29 - 1
2-29606678-C-G c.1202G>C p.R401P Missense 5/29 - 1
2-29606679-G-A c.1201C>T p.R401* Nonsense 5/29 - 1
2-29606690-T-A c.1190A>T p.D397V Missense 5/29 - 1
2-29606691-C-T c.1189G>A p.D397N Missense 5/29 - 2
2-29606694-G-A c.1186C>T p.P396S Missense 5/29 - 1
2-29606695-AC-TT c.1184_1185delinsAA p.R395Q Missense 5/29 - 1
2-29606696-C-T c.1184G>A p.R395H Missense 5/29 - 2
2-29606697-CG-C c.1183del p.R395Vfs*28 Frameshift 5/29 - 1
2-29606697-G-A c.1183C>T p.R395C Missense 5/29 - 2
2-29606697-G-T c.1183C>A p.R395S Missense 5/29 - 1
2-29606698-CCC-GCT c.1180_1182delinsAGC p.G394S Missense 5/29 - 1
2-29606700-C-A c.1180G>T p.G394W Missense 5/29 - 1
2-29606700-C-G c.1180G>C p.G394R Missense 5/29 - 1
2-29606700-C-T c.1180G>A p.G394R Missense 5/29 - 1
2-29606703-T-A c.1177A>T p.I393F Missense 5/29 - 1
2-29606706-T-C c.1174A>G p.R392G Missense 5/29 - 1
2-29606709-C-G c.1171G>C p.G391R Missense 5/29 - 1
2-29606709-C-T c.1171G>A p.G391R Missense 5/29 - 1
2-29606710-C-A c.1170G>T p.Q390H Missense 5/29 - 1
2-29606710-C-G c.1170G>C p.Q390H Missense 5/29 - 1
2-29606718-C-T c.1162G>A p.V388M Missense 5/29 - 1
2-29606723-C-A c.1157G>T p.W386L Missense 5/29 - 1
2-29616655-C-T c.1155-9930G>A - IntronicSNV - 4/28 1
2-29651030-C-T c.1155-44305G>A - IntronicSNV - 4/28 1
2-29659854-A-C c.1155-53129T>G - IntronicSNV - 4/28 1
2-29661158-A-G c.1155-54433T>C - IntronicSNV - 4/28 1
2-29680753-C-A c.1154+74028G>T - IntronicSNV - 4/28 1
2-29680753-C-T c.1154+74028G>A - IntronicSNV - 4/28 1
2-29685596-C-A c.1154+69185G>T - IntronicSNV - 4/28 1
2-29685596-C-G c.1154+69185G>C - IntronicSNV - 4/28 1
2-29685596-C-T c.1154+69185G>A - IntronicSNV - 4/28 1
2-29708718-C-T c.1154+46063G>A - IntronicSNV - 4/28 1
2-29733405-C-T c.1154+21376G>A - IntronicSNV - 4/28 1
2-29733801-G-A c.1154+20980C>T - IntronicSNV - 4/28 1
2-29736084-T-C c.1154+18697A>G - IntronicSNV - 4/28 1
2-29737495-C-G c.1154+17286G>C - IntronicSNV - 4/28 1
2-29743733-T-C c.1154+11048A>G - IntronicSNV - 4/28 3
2-29746681-T-A c.1154+8100A>T - IntronicSNV - 4/28 1
2-29751631-C-A c.1154+3150G>T - IntronicSNV - 4/28 1
2-29754721-T-C c.1154+60A>G - IntronicSNV - 4/28 1
2-29754722-G-C c.1154+59C>G - IntronicSNV - 4/28 1
2-29754770-G-C c.1154+11C>G - IntronicSNV - 4/28 1
2-29754782-C-A c.1153G>T p.G385C Missense 4/29 - 1
2-29754789-CC-GT c.1145_1146delinsAC p.G382D Missense 4/29 - 1
2-29754813-C-A c.1122G>T p.E374D Missense 4/29 - 1
2-29754817-CT-TG c.1117_1118delinsCA p.R373Q Missense 4/29 - 1
2-29754821-C-T c.1114G>A p.A372T Missense 4/29 - 1
2-29754824-C-T c.1111G>A p.A371T Missense 4/29 - 3
2-29754827-C-T c.1108G>A p.E370K Missense 4/29 - 2
2-29754835-G-C c.1100C>G p.P367R Missense 4/29 - 2
2-29754853-T-A c.1082A>T p.Y361F Missense 4/29 - 1
2-29754854-A-G c.1081T>C p.Y361H Missense 4/29 - 1
2-29754862-G-A c.1073C>T p.S358F Missense 4/29 - 1
2-29754863-A-C c.1072T>G p.S358A Missense 4/29 - 1
2-29754867-C-T c.1068G>A p.Q356= Synonymous 4/29 - 1
2-29754876-CCT-ACA c.1057_1059delinsTGT p.R353C Missense 4/29 - 1
2-29754877-CT-TA c.1057_1058delinsTA p.R353* Nonsense 4/29 - 1
2-29754884-C-A c.1051G>T p.V351L Missense 4/29 - 1
2-29754886-G-A c.1049C>T p.S350L Missense 4/29 - 2
2-29754887-A-G c.1048T>C p.S350P Missense 4/29 - 1
2-29754890-C-T c.1045G>A p.V349I Missense 4/29 - 1
2-29754892-G-T c.1043C>A p.A348D Missense 4/29 - 4
2-29754893-C-T c.1042G>A p.A348T Missense 4/29 - 1
2-29754906-C-A c.1029G>T p.E343D Missense 4/29 - 1
2-29754906-C-G c.1029G>C p.E343D Missense 4/29 - 1
2-29754908-C-G c.1027G>C p.E343Q Missense 4/29 - 2
2-29754913-CT-AG c.1021_1022inv p.S341L Missense 4/29 - 1
2-29754921-C-A c.1014G>T p.M338I Missense 4/29 - 2
2-29754921-C-G c.1014G>C p.M338I Missense 4/29 - 2
2-29754921-C-T c.1014G>A p.M338I Missense 4/29 - 3
2-29754928-G-A c.1007C>T p.P336L Missense 4/29 - 1
2-29754928-G-T c.1007C>A p.P336Q Missense 4/29 - 1
2-29754931-C-T c.1004G>A p.S335N Missense 4/29 - 1
2-29754935-G-C c.1000C>G p.L334V Missense 4/29 - 1
2-29754944-G-A c.991C>T p.H331Y Missense 4/29 - 1
2-29754946-T-C c.989A>G p.K330R Missense 4/29 - 2
2-29754954-AG-CT c.980_981inv p.A327E Missense 4/29 - 1
2-29754957-TG-AC c.977_978delinsGT p.S326C Missense 4/29 - 1
2-29754958-G-A c.977C>T p.S326L Missense 4/29 - 1
2-29754959-A-T c.976T>A p.S326T Missense 4/29 - 1
2-29754974-G-T c.961C>A p.L321I Missense 4/29 - 1
2-29754979-G-A c.956C>T p.S319F Missense 4/29 - 1
2-29754979-GA-CC c.955_956delinsGG p.S319G Missense 4/29 - 1
2-29754980-A-T c.955T>A p.S319T Missense 4/29 - 1
2-29754982-C-A c.953G>T p.G318V Missense 4/29 - 1
2-29755003-C-T c.953-21G>A - IntronicSNV - 3/28 1
2-29764460-C-T c.953-9478G>A - IntronicSNV - 3/28 4
2-29766715-G-A c.953-11733C>T - IntronicSNV - 3/28 1
2-29770763-C-G c.953-15781G>C - IntronicSNV - 3/28 1
2-29795988-T-G c.953-41006A>C - IntronicSNV - 3/28 1
2-29809861-G-A c.953-54879C>T - IntronicSNV - 3/28 1
2-29811383-C-T c.953-56401G>A - IntronicSNV - 3/28 1
2-29818291-A-G c.953-63309T>C - IntronicSNV - 3/28 1
2-29823652-A-G c.953-68670T>C - IntronicSNV - 3/28 1
2-29829760-A-G c.953-74778T>C - IntronicSNV - 3/28 1
2-29861516-G-C c.952+56200C>G - IntronicSNV - 3/28 1
2-29889019-C-A c.952+28697G>T - IntronicSNV - 3/28 1
2-29917660-G-C c.952+56C>G - IntronicSNV - 3/28 1
2-29917700-G-A c.952+16C>T - IntronicSNV - 3/28 1
2-29917717-TCT-ACA c.949_951delinsTGT p.R317C Missense 3/29 - 1
2-29917717-TCT-ATG c.949_951delinsCAT p.R317H Missense 3/29 - 1
2-29917718-CT-GG c.949_950delinsCC p.R317P Missense 3/29 - 1
2-29917721-G-A c.947C>T p.P316L Missense 3/29 - 1
2-29917727-T-C c.941A>G p.E314G Missense 3/29 - 2
2-29917727-TC-GA c.940_941inv p.E314S Missense 3/29 - 3
2-29917730-T-G c.938A>C p.K313T Missense 3/29 - 1
2-29917736-C-T c.932G>A p.R311H Missense 3/29 - 7
2-29917738-C-A c.930G>T p.E310D Missense 3/29 - 1
2-29917738-C-G c.930G>C p.E310D Missense 3/29 - 1
2-29917745-C-CCAG c.920_922dup p.P307_G308insA InFrameInsertion 3/29 - 1
2-29917752-C-A c.916G>T p.G306W Missense 3/29 - 1
2-29917764-C-G c.904G>C p.D302H Missense 3/29 - 1
2-29917765-C-A c.903G>T p.M301I Missense 3/29 - 1
2-29917765-C-G c.903G>C p.M301I Missense 3/29 - 1
2-29917765-C-T c.903G>A p.M301I Missense 3/29 - 1
2-29917775-G-A c.893C>T p.A298V Missense 3/29 - 1
2-29917776-C-A c.892G>T p.A298S Missense 3/29 - 1
2-29917776-C-T c.892G>A p.A298T Missense 3/29 - 1
2-29917779-C-G c.889G>C p.E297Q Missense 3/29 - 1
2-29917780-C-T c.888G>A p.E296= Synonymous 3/29 - 1
2-29917782-C-A c.886G>T p.E296* Nonsense 3/29 - 1
2-29917782-C-G c.886G>C p.E296Q Missense 3/29 - 2
2-29917782-C-T c.886G>A p.E296K Missense 3/29 - 3
2-29917787-G-T c.881C>A p.P294H Missense 3/29 - 1
2-29917793-C-T c.875G>A p.R292H Missense 3/29 - 1
2-29917794-G-A c.874C>T p.R292C Missense 3/29 - 2
2-29917794-G-T c.874C>A p.R292S Missense 3/29 - 1
2-29917795-GC-TT c.872_873delinsAA p.R291Q Missense 3/29 - 1
2-29917796-C-T c.872G>A p.R291H Missense 3/29 - 3
2-29917797-G-A c.871C>T p.R291C Missense 3/29 - 2
2-29917797-G-T c.871C>A p.R291S Missense 3/29 - 2
2-29917802-GA-AT c.865_866delinsAT p.S289I Missense 3/29 - 1
2-29917802-G-T c.866C>A p.S289Y Missense 3/29 - 1
2-29917804-C-A c.864G>T p.W288C Missense 3/29 - 1
2-29917806-A-G c.862T>C p.W288R Missense 3/29 - 1
2-29917807-G-C c.861C>G p.S287R Missense 3/29 - 1
2-29917814-T-TTG c.853_854insCA p.N285Tfs*51 Frameshift 3/29 - 1
2-29917833-G-C c.835C>G p.P279A Missense 3/29 - 1
2-29917835-G-A c.833C>T p.P278L Missense 3/29 - 1
2-29917838-G-T c.830C>A p.S277Y Missense 3/29 - 1
2-29917843-C-T c.825G>A p.E275= Synonymous 3/29 - 1
2-29917867-GCT-TCA c.799_801delinsTGA p.S267* Nonsense 3/29 - 1
2-29917868-C-A c.800G>T p.S267I Missense 3/29 - 1
2-29917871-C-A c.797G>T p.C266F Missense 3/29 - 1
2-29917874-TC-T c.793del p.E265Sfs*70 Frameshift 3/29 - 1
2-29917940-C-A c.788-60G>T - IntronicSNV - 2/28 2
2-29917940-C-G c.788-60G>C - IntronicSNV - 2/28 2
2-29927907-A-C c.788-10027T>G - IntronicSNV - 2/28 1
2-29927908-A-C c.788-10028T>G - IntronicSNV - 2/28 3
2-29940444-C-G c.787G>C p.G263R Missense 2/29 - 2
2-29940449-C-T c.782G>A p.R261Q Missense 2/29 - 1
2-29940450-GGCTGCGATGAGACAGGAAAGGGAAGGA-G c.754_780del p.S252_S260del InFrameDeletion 2/29 - 1
2-29940455-CG-GC c.775_776delinsGC p.R259A Missense 2/29 - 1
2-29940455-C-T c.776G>A p.R259H Missense 2/29 - 1
2-29940456-G-A c.775C>T p.R259C Missense 2/29 - 2
2-29940464-AG-GT c.766_767delinsAC p.L256T Missense 2/29 - 1
2-29940464-A-T c.767T>A p.L256Q Missense 2/29 - 2
2-29940465-G-T c.766C>A p.L256M Missense 2/29 - 1
2-29940470-G-T c.761C>A p.P254H Missense 2/29 - 2
2-29940471-G-A c.760C>T p.P254S Missense 2/29 - 1
2-29940476-G-A c.755C>T p.S252F Missense 2/29 - 1
2-29940476-G-C c.755C>G p.S252C Missense 2/29 - 1
2-29940477-A-T c.754T>A p.S252T Missense 2/29 - 1
2-29940481-T-A c.750A>T p.K250N Missense 2/29 - 1
2-29940485-A-C c.746T>G p.M249R Missense 2/29 - 1
2-29940486-T-C c.745A>G p.M249V Missense 2/29 - 1
2-29940494-G-C c.737C>G p.T246S Missense 2/29 - 2
2-29940495-T-A c.736A>T p.T246S Missense 2/29 - 1
2-29940501-T-A c.730A>T p.N244Y Missense 2/29 - 1
2-29940507-T-A c.724A>T p.T242S Missense 2/29 - 1
2-29940516-C-A c.715G>T p.D239Y Missense 2/29 - 1
2-29940516-CAGG-C c.712_714del p.P238del InFrameDeletion 2/29 - 1
2-29940520-AGA-TTAGCTAAAAAGTGCTAC c.709_711delinsGTAGCACTTTTTAGCTAA p.S237delinsVALFS* MultiAAMissense 2/29 - 1
2-29940524-G-A c.707C>T p.P236L Missense 2/29 - 1
2-29940525-G-T c.706C>A p.P236T Missense 2/29 - 1
2-29940529-A-C c.702T>G p.P234= Synonymous 2/29 - 7
2-29940529-A-T c.702T>A p.P234= Synonymous 2/29 - 8
2-29940530-G-A c.701C>T p.P234L Missense 2/29 - 1
2-29940542-G-T c.689C>A p.P230Q Missense 2/29 - 2
2-29958841-C-G c.668-18278G>C - IntronicSNV - 1/28 1
2-29958841-C-T c.668-18278G>A - IntronicSNV - 1/28 1
2-29966380-T-C c.668-25817A>G - IntronicSNV - 1/28 1
2-29981286-G-A c.668-40723C>T - IntronicSNV - 1/28 1
2-29981286-G-C c.668-40723C>G - IntronicSNV - 1/28 1
2-29999161-A-C c.668-58598T>G - IntronicSNV - 1/28 1
2-30002690-A-C c.668-62127T>G - IntronicSNV - 1/28 1
2-30002690-A-T c.668-62127T>A - IntronicSNV - 1/28 1
2-30016786-C-T c.668-76223G>A - IntronicSNV - 1/28 1
2-30020416-C-T c.668-79853G>A - IntronicSNV - 1/28 1
2-30026989-A-G c.668-86426T>C - IntronicSNV - 1/28 1
2-30043558-C-T c.667+99301G>A - IntronicSNV - 1/28 1
2-30069828-A-G c.667+73031T>C - IntronicSNV - 1/28 1
2-30075404-A-G c.667+67455T>C - IntronicSNV - 1/28 1
2-30078957-T-A c.667+63902A>T - IntronicSNV - 1/28 1
2-30078957-T-C c.667+63902A>G - IntronicSNV - 1/28 1
2-30078957-T-G c.667+63902A>C - IntronicSNV - 1/28 1
2-30106539-A-C c.667+36320T>G - IntronicSNV - 1/28 2
2-30106539-A-G c.667+36320T>C - IntronicSNV - 1/28 2
2-30142814-A-T c.667+45T>A - IntronicSNV - 1/28 1
2-30142825-T-C c.667+34A>G - IntronicSNV - 1/28 1
2-30142843-G-C c.667+16C>G - IntronicSNV - 1/28 1
2-30142865-C-G c.661G>C p.G221R Missense 1/29 - 1
2-30142872-C-A c.654G>T p.Q218H Missense 1/29 - 1
2-30142875-G-C c.651C>G p.F217L Missense 1/29 - 1
2-30142875-G-T c.651C>A p.F217L Missense 1/29 - 1
2-30142877-A-G c.649T>C p.F217L Missense 1/29 - 1
2-30142882-A-T c.644T>A p.L215H Missense 1/29 - 1
2-30142883-G-A c.643C>T p.L215F Missense 1/29 - 1
2-30142885-C-T c.641G>A p.R214H Missense 1/29 - 1
2-30142886-G-A c.640C>T p.R214C Missense 1/29 - 1
2-30142892-G-A c.634C>T p.Q212* Nonsense 1/29 - 1
2-30142900-C-T c.626G>A p.R209H Missense 1/29 - 1
2-30142901-G-A c.625C>T p.R209C Missense 1/29 - 3
2-30142910-C-T c.616G>A p.A206T Missense 1/29 - 1
2-30142911-G-A c.615C>T p.S205= Synonymous 1/29 - 1
2-30142911-G-C c.615C>G p.S205= Synonymous 1/29 - 1
2-30142911-GGA-CTC c.613_615delinsGAG p.S205E Missense 1/29 - 1
2-30142911-G-T c.615C>A p.S205= Synonymous 1/29 - 1
2-30142917-C-G c.609G>C p.R203S Missense 1/29 - 1
2-30142924-T-A c.602A>T p.E201V Missense 1/29 - 1
2-30142930-C-A c.596G>T p.G199V Missense 1/29 - 1
2-30142931-C-A c.595G>T p.G199C Missense 1/29 - 1
2-30142931-C-T c.595G>A p.G199S Missense 1/29 - 1
2-30142934-C-T c.592G>A p.V198M Missense 1/29 - 2
2-30142934-CT-C c.591del p.V198Wfs*51 Frameshift 1/29 - 1
2-30142942-G-A c.584C>T p.A195V Missense 1/29 - 1
2-30142945-T-A c.581A>T p.K194M Missense 1/29 - 1
2-30142950-C-A c.576G>T p.E192D Missense 1/29 - 1
2-30142952-C-T c.574G>A p.E192K Missense 1/29 - 1
2-30142954-G-A c.572C>T p.P191L Missense 1/29 - 2
2-30142963-C-T c.563G>A p.R188H Missense 1/29 - 1
2-30142969-C-T c.557G>A p.R186K Missense 1/29 - 2
2-30142978-C-A c.548G>T p.G183V Missense 1/29 - 1
2-30142989-GCG-TCA c.535_537delinsTGA p.R179* Nonsense 1/29 - 1
2-30143013-G-C c.513C>G p.S171R Missense 1/29 - 1
2-30143013-G-T c.513C>A p.S171R Missense 1/29 - 1
2-30143015-T-G c.511A>C p.S171R Missense 1/29 - 1
2-30143018-G-A c.508C>T p.L170F Missense 1/29 - 1
2-30143019-A-T c.507T>A p.N169K Missense 1/29 - 1
2-30143022-GA-TT c.503_504delinsAA p.F168* Nonsense 1/29 - 1
2-30143023-A-G c.503T>C p.F168S Missense 1/29 - 1
2-30143024-A-G c.502T>C p.F168L Missense 1/29 - 1
2-30143027-G-A c.499C>T p.Q167* Nonsense 1/29 - 1
2-30143036-C-A c.490G>T p.G164W Missense 1/29 - 1
2-30143038-A-G c.488T>C p.V163A Missense 1/29 - 1
2-30143039-C-A c.487G>T p.V163L Missense 1/29 - 5
2-30143042-C-T c.484G>A p.A162T Missense 1/29 - 1
2-30143047-T-A c.479A>T p.E160V Missense 1/29 - 1
2-30143050-C-A c.476G>T p.G159V Missense 1/29 - 1
2-30143053-G-A c.473C>T p.P158L Missense 1/29 - 2
2-30143054-G-T c.472C>A p.P158T Missense 1/29 - 1
2-30143051-CG-C c.474del p.E160Rfs*26 Frameshift 1/29 - 1
2-30143057-G-A c.469C>T p.P157S Missense 1/29 - 1
2-30143057-G-C c.469C>G p.P157A Missense 1/29 - 1
2-30143058-C-A c.468G>T p.G156= Synonymous 1/29 - 1
2-30143058-C-G c.468G>C p.G156= Synonymous 1/29 - 1
2-30143058-C-T c.468G>A p.G156= Synonymous 1/29 - 1
2-30143068-C-A c.458G>T p.G153V Missense 1/29 - 1
2-30143069-C-G c.457G>C p.G153R Missense 1/29 - 1
2-30143070-C-A c.456G>T p.E152D Missense 1/29 - 1
2-30143070-CTCCAAGA-C c.449_455del p.I150Rfs*34 Frameshift 1/29 - 2
2-30143077-A-C c.449T>G p.I150S Missense 1/29 - 1
2-30143077-A-G c.449T>C p.I150T Missense 1/29 - 1
2-30143081-C-G c.445G>C p.A149P Missense 1/29 - 1
2-30143087-C-T c.439G>A p.E147K Missense 1/29 - 1
2-30143090-C-T c.436G>A p.G146S Missense 1/29 - 1
2-30143096-C-T c.430G>A p.E144K Missense 1/29 - 2
2-30143098-A-C c.428T>G p.L143R Missense 1/29 - 1
2-30143098-A-T c.428T>A p.L143Q Missense 1/29 - 1
2-30143103-C-A c.423G>T p.L141F Missense 1/29 - 1
2-30143110-T-C c.416A>G p.K139R Missense 1/29 - 1
2-30143117-G-C c.409C>G p.R137G Missense 1/29 - 1
2-30143117-G-T c.409C>A p.R137S Missense 1/29 - 2
2-30143119-C-T c.407G>A p.R136Q Missense 1/29 - 1
2-30143120-G-A c.406C>T p.R136W Missense 1/29 - 2
2-30143118-CCGGAGCTTG-C c.399_407del p.K134_R136del InFrameDeletion 1/29 - 1
2-30143128-C-T c.398G>A p.R133H Missense 1/29 - 1
2-30143129-G-A c.397C>T p.R133C Missense 1/29 - 1
2-30143134-G-A c.392C>T p.S131F Missense 1/29 - 1
2-30143140-C-A c.386G>T p.G129V Missense 1/29 - 1
2-30143141-C-T c.385G>A p.G129S Missense 1/29 - 1
2-30143147-G-A c.379C>T p.L127= Synonymous 1/29 - 1
2-30143147-G-C c.379C>G p.L127V Missense 1/29 - 1
2-30143156-A-G c.370T>C p.S124P Missense 1/29 - 1
2-30143161-G-A c.365C>T p.T122M Missense 1/29 - 1
2-30143164-C-T c.362G>A p.R121Q Missense 1/29 - 1
2-30143165-G-A c.361C>T p.R121W Missense 1/29 - 1
2-30143167-G-A c.359C>T p.A120V Missense 1/29 - 1
2-30143169-C-A c.357G>T p.E119D Missense 1/29 - 2
2-30143170-T-A c.356A>T p.E119V Missense 1/29 - 1
2-30143173-G-C c.353C>G p.A118G Missense 1/29 - 2
2-30143175-C-A c.351G>T p.P117= Synonymous 1/29 - 1
2-30143175-C-G c.351G>C p.P117= Synonymous 1/29 - 1
2-30143175-C-T c.351G>A p.P117= Synonymous 1/29 - 1
2-30143176-G-C c.350C>G p.P117R Missense 1/29 - 1
2-30143180-C-T c.346G>A p.A116T Missense 1/29 - 1
2-30143188-C-A c.338G>T p.G113V Missense 1/29 - 1
2-30143188-C-T c.338G>A p.G113D Missense 1/29 - 1
2-30143197-CCAGGAG-C c.324_329del p.S109_W110del InFrameDeletion 1/29 - 1
2-30143200-G-A c.326C>T p.S109F Missense 1/29 - 1
2-30143200-GA-CG c.325_326delinsCG p.S109R Missense 1/29 - 1
2-30143200-G-T c.326C>A p.S109Y Missense 1/29 - 1
2-30143202-GA-CT c.323_324delinsAG p.V108E Missense 1/29 - 1
2-30143203-A-T c.323T>A p.V108D Missense 1/29 - 1
2-30143214-CGG-ACA c.310_312delinsTGT p.P104C Missense 1/29 - 1
2-30143221-A-G c.305T>C p.L102P Missense 1/29 - 1
2-30143223-C-A c.303G>T p.L101F Missense 1/29 - 1
2-30143223-C-G c.303G>C p.L101F Missense 1/29 - 1
2-30143224-AA-GC c.301_302delinsGC p.L101A Missense 1/29 - 1
2-30143226-CCT-ATG c.298_300delinsCAT p.R100H Missense 1/29 - 1
2-30143227-CT-AG c.298_299inv p.R100L Missense 1/29 - 1
2-30143228-T-C c.298A>G p.R100G Missense 1/29 - 1
2-30143230-AG-GC c.295_296delinsGC p.L99A Missense 1/29 - 1
2-30143233-A-G c.293T>C p.L98P Missense 1/29 - 1
2-30143236-G-C c.290C>G p.P97R Missense 1/29 - 1
2-30143238-GG-CT c.287_288delinsAG p.A96E Missense 1/29 - 1
2-30143239-G-A c.287C>T p.A96V Missense 1/29 - 1
2-30143242-CA-GC c.283_284delinsGC p.C95A Missense 1/29 - 1
2-30143246-C-A c.280G>T p.D94Y Missense 1/29 - 2
2-30143247-CAG-AAA c.277_279delinsTTT p.L93F Missense 1/29 - 1
2-30143251-GC-CA c.274_275delinsTG p.A92C Missense 1/29 - 1
2-30143252-C-A c.274G>T p.A92S Missense 1/29 - 1
2-30143262-GC-TT c.263_264delinsAA p.R88Q Missense 1/29 - 1
2-30143265-GG-CT c.260_261delinsAG p.A87E Missense 1/29 - 1
2-30143273-G-C c.253C>G p.P85A Missense 1/29 - 4
2-30143279-C-G c.247G>C p.G83R Missense 1/29 - 1
2-30143280-A-C c.246T>G p.A82= Synonymous 1/29 - 1
2-30143280-A-G c.246T>C p.A82= Synonymous 1/29 - 1
2-30143280-AG-CT c.245_246inv p.A82E Missense 1/29 - 1
2-30143280-A-T c.246T>A p.A82= Synonymous 1/29 - 1
2-30143289-C-T c.237G>A p.E79= Synonymous 1/29 - 1
2-30143291-C-G c.235G>C p.E79Q Missense 1/29 - 2
2-30143291-C-T c.235G>A p.E79K Missense 1/29 - 1
2-30143293-G-C c.233C>G p.S78W Missense 1/29 - 1
2-30143299-G-C c.227C>G p.S76C Missense 1/29 - 1
2-30143317-TC-CA c.208_209delinsTG p.D70C Missense 1/29 - 1
2-30143317-T-G c.209A>C p.D70A Missense 1/29 - 1
2-30143320-C-T c.206G>A p.R69Q Missense 1/29 - 1
2-30143322-G-A c.204C>T p.A68= Synonymous 1/29 - 1
2-30143322-G-C c.204C>G p.A68= Synonymous 1/29 - 1
2-30143322-G-T c.204C>A p.A68= Synonymous 1/29 - 1
2-30143323-GC-CA c.202_203delinsTG p.A68C Missense 1/29 - 2
2-30143340-C-A c.186G>T p.S62= Synonymous 1/29 - 1
2-30143341-G-C c.185C>G p.S62W Missense 1/29 - 2
2-30143344-G-A c.182C>T p.P61L Missense 1/29 - 1
2-30143352-G-T c.174C>A p.F58L Missense 1/29 - 2
2-30143356-TC-CA c.169_170delinsTG p.D57C Missense 1/29 - 1
2-30143361-TGC-AAA c.163_165delinsTTT p.A55F Missense 1/29 - 1
2-30143361-TGC-ACA c.163_165delinsTGT p.A55C Missense 1/29 - 2
2-30143362-G-T c.164C>A p.A55E Missense 1/29 - 2
2-30143363-C-T c.163G>A p.A55T Missense 1/29 - 1
2-30143366-G-T c.160C>A p.L54M Missense 1/29 - 1
2-30143368-C-T c.158G>A p.S53N Missense 1/29 - 1
2-30143371-T-C c.155A>G p.K52R Missense 1/29 - 1
2-30143376-C-A c.150G>T p.Q50H Missense 1/29 - 1
2-30143378-G-A c.148C>T p.Q50* Nonsense 1/29 - 1
2-30143382-G-A c.144C>T p.R48= Synonymous 1/29 - 1
2-30143382-G-C c.144C>G p.R48= Synonymous 1/29 - 1
2-30143382-G-T c.144C>A p.R48= Synonymous 1/29 - 1
2-30143383-C-A c.143G>T p.R48L Missense 1/29 - 1
2-30143384-G-A c.142C>T p.R48C Missense 1/29 - 1
2-30143386-G-A c.140C>T p.S47L Missense 1/29 - 1
2-30143386-G-C c.140C>G p.S47W Missense 1/29 - 1
2-30143392-CT-AA c.133_134delinsTT p.S45F Missense 1/29 - 1
2-30143395-A-C c.131T>G p.L44R Missense 1/29 - 1
2-30143398-G-A c.128C>T p.P43L Missense 1/29 - 2
2-30143402-C-A c.124G>T p.E42* Nonsense 1/29 - 1
2-30143407-G-T c.119C>A p.P40H Missense 1/29 - 1
2-30143408-G-T c.118C>A p.P40T Missense 1/29 - 1
2-30143410-T-G c.116A>C p.Q39P Missense 1/29 - 1
2-30143413-A-C c.113T>G p.L38R Missense 1/29 - 1
2-30143413-A-G c.113T>C p.L38P Missense 1/29 - 1
2-30143415-CGG-ACA c.109_111delinsTGT p.P37C Missense 1/29 - 1
2-30143415-C-T c.111G>A p.P37= Synonymous 1/29 - 1
2-30143416-G-A c.110C>T p.P37L Missense 1/29 - 1
2-30143416-G-GGAAGAA c.109_110insTTCTTC p.P36_P37insLL InFrameInsertion 1/29 - 1
2-30143419-G-A c.107C>T p.P36L Missense 1/29 - 1
2-30143420-G-A c.106C>T p.P36S Missense 1/29 - 3
2-30143422-C-A c.104G>T p.G35V Missense 1/29 - 1
2-30143422-C-G c.104G>C p.G35A Missense 1/29 - 1
2-30143422-C-T c.104G>A p.G35E Missense 1/29 - 1
2-30143424-CG-GT c.101_102delinsAC p.A34D Missense 1/29 - 1
2-30143427-A-C c.99T>G p.A33= Synonymous 1/29 - 1
2-30143427-A-G c.99T>C p.A33= Synonymous 1/29 - 1
2-30143427-A-T c.99T>A p.A33= Synonymous 1/29 - 1
2-30143428-G-A c.98C>T p.A33V Missense 1/29 - 1
2-30143428-GC-AA c.97_98delinsTT p.A33F Missense 1/29 - 1
2-30143429-C-T c.97G>A p.A33T Missense 1/29 - 1
2-30143431-G-A c.95C>T p.P32L Missense 1/29 - 1
2-30143431-GG-TA c.94_95delinsTA p.P32* Nonsense 1/29 - 1
2-30143440-G-A c.86C>T p.A29V Missense 1/29 - 1
2-30143440-G-T c.86C>A p.A29E Missense 1/29 - 1
2-30143441-C-T c.85G>A p.A29T Missense 1/29 - 2
2-30143443-C-A c.83G>T p.R28L Missense 1/29 - 1
2-30143443-C-T c.83G>A p.R28H Missense 1/29 - 1
2-30143447-G-GTTTA c.78_79insTAAA p.Q27* Nonsense 1/29 - 1
2-30143446-TG-T c.79del p.Q27Sfs*54 Frameshift 1/29 - 1
2-30143452-G-C c.74C>G p.T25S Missense 1/29 - 1
2-30143453-T-A c.73A>T p.T25S Missense 1/29 - 1
2-30143455-C-T c.71G>A p.G24E Missense 1/29 - 1
2-30143465-A-C c.61T>G p.S21A Missense 1/29 - 3
2-30143472-AGC-CAT c.52_54delinsATG p.A18M Missense 1/29 - 1
2-30143476-G-A c.50C>T p.A17V Missense 1/29 - 1
2-30143477-C-T c.49G>A p.A17T Missense 1/29 - 1
2-30143478-CGT-ATA c.46_48delinsTAT p.T16Y Missense 1/29 - 1
2-30143480-T-A c.46A>T p.T16S Missense 1/29 - 1
2-30143481-GGA-CTC c.43_45delinsGAG p.S15E Missense 1/29 - 1
2-30143482-G-A c.44C>T p.S15F Missense 1/29 - 1
2-30143482-GA-AT c.43_44delinsAT p.S15I Missense 1/29 - 1
2-30143482-GA-TC c.43_44inv p.S15D Missense 1/29 - 1
2-30143483-A-C c.43T>G p.S15A Missense 1/29 - 5
2-30143488-AG-GC c.37_38delinsGC p.L13A Missense 1/29 - 1
2-30143493-C-A c.33G>T p.P11= Synonymous 1/29 - 1
2-30143493-C-T c.33G>A p.P11= Synonymous 1/29 - 1
2-30143494-CGGCAGG-C c.27_32del p.P11_L12del InFrameDeletion 1/29 - 1
2-30143494-G-A c.32C>T p.P11L Missense 1/29 - 1
2-30143497-AG-GC c.28_29delinsGC p.L10A Missense 1/29 - 1
2-30143498-GG-AC c.27_28delinsGT p.LL9L= Synonymous 1/29 - 1
2-30143496-CAGG-C c.27_29del p.L10del InFrameDeletion 1/29 - 1
2-30143499-G-A c.27C>T p.L9= Synonymous 1/29 - 1
2-30143499-G-C c.27C>G p.L9= Synonymous 1/29 - 6
2-30143499-G-T c.27C>A p.L9= Synonymous 1/29 - 2
2-30143501-G-A c.25C>T p.L9F Missense 1/29 - 1
2-30143517-G-A c.9C>T p.A3= Synonymous 1/29 - 1
2-30143517-G-C c.9C>G p.A3= Synonymous 1/29 - 1
2-30143517-G-T c.9C>A p.A3= Synonymous 1/29 - 1
2-30143520-T-A c.6A>T p.G2= Synonymous 1/29 - 1
2-30143520-T-C c.6A>G p.G2= Synonymous 1/29 - 1
2-30143520-T-G c.6A>C p.G2= Synonymous 1/29 - 1
2-30143530-C-T c.-5G>A - 5-UTRSNV 1/29 - 1
2-30143705-G-A c.-180C>T - 5-UTRSNV 1/29 - 1
2-30143705-G-C c.-180C>G - 5-UTRSNV 1/29 - 1
2-30143705-G-T c.-180C>A - 5-UTRSNV 1/29 - 1
2-30143798-C-G c.-273G>C - 5-UTRSNV 1/29 - 1
2-30143817-C-A c.-292G>T - 5-UTRSNV 1/29 - 1
2-30143817-C-G c.-292G>C - 5-UTRSNV 1/29 - 1
2-30143817-C-T c.-292G>A - 5-UTRSNV 1/29 - 1
2-30143838-G-A c.-313C>T - 5-UTRSNV 1/29 - 1
2-30143838-G-C c.-313C>G - 5-UTRSNV 1/29 - 1
2-30143940-A-G c.-415T>C - 5-UTRSNV 1/29 - 1