COL16A1

COL16A1 collagen type XVI alpha 1 chain

Annotation transcript: NM_001856.4

1728 unique variant annotations were identified in 480 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-32118157-C-CAA c.*93_*94dup - 3-UTRInsertion 71/71 - 1
1-32118157-C-CA c.*94dup - 3-UTRInsertion 71/71 - 1
1-32118157-C-CAAA c.*94_*95insTTT - 3-UTRInsertion 71/71 - 1
1-32118160-C-A c.*92G>T - 3-UTRSNV 71/71 - 8
1-32118253-C-G c.4814G>C p.*1605Sext*8 Missense 71/71 - 1
1-32118261-A-G c.4806T>C p.P1602= Synonymous 71/71 - 1
1-32118263-G-A c.4804C>T p.P1602S Missense 71/71 - 1
1-32118264-C-A c.4803G>T p.G1601= Synonymous 71/71 - 1
1-32118264-C-G c.4803G>C p.G1601= Synonymous 71/71 - 1
1-32118264-C-T c.4803G>A p.G1601= Synonymous 71/71 - 1
1-32118280-A-G c.4787T>C p.M1596T Missense 71/71 - 2
1-32118283-G-A c.4784C>T p.P1595L Missense 71/71 - 2
1-32118284-G-A c.4783C>T p.P1595S Missense 71/71 - 1
1-32118303-C-T c.4764G>A p.P1588= Synonymous 71/71 - 2
1-32118313-C-A c.4754G>T p.G1585V Missense 71/71 - 1
1-32118317-A-C c.4750T>G p.F1584V Missense 71/71 - 1
1-32118318-GCAGT-G c.4745_4748del p.D1582Afs*14 Frameshift 71/71 - 1
1-32118325-G-A c.4742C>T p.S1581F Missense 71/71 - 3
1-32118334-C-G c.4733G>C p.C1578S Missense 71/71 - 1
1-32118335-A-T c.4732T>A p.C1578S Missense 71/71 - 1
1-32118343-G-T c.4724C>A p.A1575D Missense 71/71 - 1
1-32118346-T-A c.4721A>T p.K1574M Missense 71/71 - 1
1-32118347-T-G c.4720A>C p.K1574Q Missense 71/71 - 1
1-32118350-C-A c.4717G>T p.G1573C Missense 71/71 - 1
1-32118351-T-TGGGCCCCCGGGTCCCATGGGCCAGCCAGGCAA c.4715_4716insTTGCCTGGCTGGCCCATGGGACCCGGGGGCCC p.G1573Cfs*35 Frameshift 71/71 - 1
1-32118359-C-CA c.4707_4708insT p.G1570Wfs*10 Frameshift 71/71 - 1
1-32118366-A-C c.4701T>G p.G1567= Synonymous 71/71 - 1
1-32118370-G-A c.4697C>T p.P1566L Missense 71/71 - 1
1-32118370-G-C c.4697C>G p.P1566R Missense 71/71 - 1
1-32118373-G-A c.4694C>T p.P1565L Missense 71/71 - 1
1-32118374-G-T c.4693C>A p.P1565T Missense 71/71 - 1
1-32118385-C-A c.4682G>T p.G1561V Missense 71/71 - 5
1-32118389-G-A c.4678C>T p.P1560S Missense 71/71 - 2
1-32118390-G-A c.4677C>T p.I1559= Synonymous 71/71 - 3
1-32118394-C-T c.4673G>A p.G1558D Missense 71/71 - 1
1-32118400-T-TG c.4666dup p.Q1556Pfs*24 Frameshift 71/71 - 1
1-32118417-T-A c.4650A>T p.A1550= Synonymous 71/71 - 1
1-32118417-T-C c.4650A>G p.A1550= Synonymous 71/71 - 1
1-32118417-T-G c.4650A>C p.A1550= Synonymous 71/71 - 1
1-32118419-C-T c.4648G>A p.A1550T Missense 71/71 - 1
1-32118423-C-A c.4644G>T p.M1548I Missense 71/71 - 2
1-32118423-C-G c.4644G>C p.M1548I Missense 71/71 - 2
1-32118423-C-T c.4644G>A p.M1548I Missense 71/71 - 3
1-32118436-C-G c.4631G>C p.G1544A Missense 71/71 - 1
1-32118440-G-A c.4627C>T p.P1543S Missense 71/71 - 1
1-32118443-G-A c.4624C>T p.P1542S Missense 71/71 - 4
1-32118450-A-C c.4617T>G p.P1539= Synonymous 71/71 - 1
1-32118450-A-G c.4617T>C p.P1539= Synonymous 71/71 - 1
1-32118450-A-T c.4617T>A p.P1539= Synonymous 71/71 - 1
1-32118452-G-A c.4615C>T p.P1539S Missense 71/71 - 1
1-32119200-C-CA c.4611_4612insT p.G1538Wfs*42 SpliceDonorInsertion 70/71 - 1
1-32119200-C-CG c.4611_4612insC p.G1538Rfs*42 SpliceDonorInsertion 70/71 - 1
1-32119200-C-CT c.4611dup p.G1538Rfs*42 SpliceDonorInsertion 70/71 - 1
1-32119203-G-A c.4609C>T p.P1537S Missense 70/71 - 1
1-32119203-G-T c.4609C>A p.P1537T Missense 70/71 - 1
1-32119201-TG-T c.4610del p.P1537Qfs*60 Frameshift 70/71 - 1
1-32119201-T-TG c.4610dup p.G1538Rfs*42 Frameshift 70/71 - 1
1-32119208-C-G c.4604G>C p.G1535A Missense 70/71 - 1
1-32119209-C-A c.4603G>T p.G1535C Missense 70/71 - 1
1-32119209-C-T c.4603G>A p.G1535S Missense 70/71 - 2
1-32119210-G-A c.4602C>T p.P1534= Synonymous 70/71 - 1
1-32119211-G-A c.4601C>T p.P1534L Missense 70/71 - 1
1-32119213-A-C c.4599T>G p.L1533= Synonymous 70/71 - 1
1-32119213-A-G c.4599T>C p.L1533= Synonymous 70/71 - 1
1-32119213-A-T c.4599T>A p.L1533= Synonymous 70/71 - 1
1-32119215-G-A c.4597C>T p.L1533F Missense 70/71 - 1
1-32119216-A-G c.4596T>C p.G1532= Synonymous 70/71 - 1
1-32119218-C-G c.4594G>C p.G1532R Missense 70/71 - 1
1-32119228-T-A c.4584A>T p.A1528= Synonymous 70/71 - 1
1-32119228-T-C c.4584A>G p.A1528= Synonymous 70/71 - 1
1-32119228-T-G c.4584A>C p.A1528= Synonymous 70/71 - 1
1-32119229-G-T c.4583C>A p.A1528E Missense 70/71 - 1
1-32119232-A-G c.4580T>C p.I1527T Missense 70/71 - 1
1-32119236-C-G c.4576G>C p.G1526R Missense 70/71 - 1
1-32119240-A-G c.4572T>C p.G1524= Synonymous 70/71 - 1
1-32119241-C-T c.4571G>A p.G1524D Missense 70/71 - 1
1-32119243-A-C c.4569T>G p.I1523M Missense 70/71 - 1
1-32119252-T-C c.4560A>G p.K1520= Synonymous 70/71 - 2
1-32119251-CT-C c.4560del p.D1522Tfs*75 Frameshift 70/71 - 1
1-32119257-C-T c.4555G>A p.E1519K Missense 70/71 - 1
1-32119259-C-G c.4553G>C p.G1518A Missense 70/71 - 1
1-32119265-G-A c.4547C>T p.T1516I Missense 70/71 - 1
1-32119269-C-T c.4543G>A p.G1515S Missense 70/71 - 1
1-32119348-A-T c.4535-71T>A - IntronicSNV - 69/70 2
1-32119377-T-C c.4534+91A>G - IntronicSNV - 69/70 1
1-32119377-T-G c.4534+91A>C - IntronicSNV - 69/70 1
1-32119431-T-C c.4534+37A>G - IntronicSNV - 69/70 6
1-32119433-A-G c.4534+35T>C - IntronicSNV - 69/70 1
1-32119433-A-T c.4534+35T>A - IntronicSNV - 69/70 1
1-32119478-TG-T c.4523del p.P1508Qfs*3 Frameshift 69/71 - 1
1-32119485-C-T c.4517G>A p.G1506D Missense 69/71 - 1
1-32119487-C-G c.4515G>C p.Q1505H Missense 69/71 - 2
1-32119491-C-A c.4511G>T p.R1504L Missense 69/71 - 1
1-32119491-C-T c.4511G>A p.R1504Q Missense 69/71 - 1
1-32119490-C-A c.4512G>T p.R1504= Synonymous 69/71 - 1
1-32119490-C-G c.4512G>C p.R1504= Synonymous 69/71 - 1
1-32119490-C-T c.4512G>A p.R1504= Synonymous 69/71 - 1
1-32119492-G-A c.4510C>T p.R1504W Missense 69/71 - 1
1-32119492-G-T c.4510C>A p.R1504= Synonymous 69/71 - 1
1-32119496-T-G c.4506A>C p.E1502D Missense 69/71 - 2
1-32119498-C-T c.4504G>A p.E1502K Missense 69/71 - 1
1-32119502-G-A c.4500C>T p.G1500= Synonymous 69/71 - 3
1-32119502-G-C c.4500C>G p.G1500= Synonymous 69/71 - 2
1-32119502-G-T c.4500C>A p.G1500= Synonymous 69/71 - 2
1-32119508-C-T c.4494G>A p.Q1498= Synonymous 69/71 - 1
1-32119511-A-C c.4491T>G p.G1497= Synonymous 69/71 - 1
1-32119511-A-G c.4491T>C p.G1497= Synonymous 69/71 - 1
1-32119511-A-T c.4491T>A p.G1497= Synonymous 69/71 - 1
1-32119517-G-A c.4485C>T p.L1495= Synonymous 69/71 - 1
1-32119519-G-A c.4483C>T p.L1495F Missense 69/71 - 1
1-32119519-G-T c.4483C>A p.L1495I Missense 69/71 - 1
1-32119530-C-G c.4472G>C p.G1491A Missense 69/71 - 1
1-32119535-GAGCA-G c.4464_4467del p.A1489Qfs*21 Frameshift 69/71 - 1
1-32119542-G-GA c.4459_4460insT p.P1487Lfs*33 Frameshift 69/71 - 1
1-32119542-G-T c.4460C>A p.P1487Q Missense 69/71 - 1
1-32119543-GC-G c.4458del p.R1486Sfs*25 Frameshift 69/71 - 1
1-32119553-A-C c.4449T>G p.A1483= Synonymous 69/71 - 1
1-32119553-A-G c.4449T>C p.A1483= Synonymous 69/71 - 1
1-32119553-A-T c.4449T>A p.A1483= Synonymous 69/71 - 1
1-32119555-C-A c.4447G>T p.A1483S Missense 69/71 - 1
1-32119561-C-T c.4441G>A p.D1481N Missense 69/71 - 2
1-32119576-C-A c.4426G>T p.G1476W Missense 69/71 - 1
1-32119582-G-A c.4420C>T p.R1474* Nonsense 69/71 - 3
1-32119586-C-T c.4416G>A p.P1472= Synonymous 69/71 - 1
1-32119590-G-A c.4412C>T p.A1471V Missense 69/71 - 1
1-32119590-G-T c.4412C>A p.A1471D Missense 69/71 - 2
1-32119596-G-A c.4406C>T p.A1469V Missense 69/71 - 1
1-32119602-T-G c.4400A>C p.E1467A Missense 69/71 - 1
1-32119608-G-A c.4394C>T p.P1465L Missense 69/71 - 2
1-32119609-G-A c.4393C>T p.P1465S Missense 69/71 - 1
1-32119613-C-T c.4389G>A p.Q1463= Synonymous 69/71 - 1
1-32119619-C-A c.4383G>T p.R1461S Missense 69/71 - 1
1-32119619-C-T c.4383G>A p.R1461= Synonymous 69/71 - 1
1-32119621-T-G c.4381A>C p.R1461= Synonymous 69/71 - 1
1-32119622-G-A c.4380C>T p.S1460= Synonymous 69/71 - 1
1-32119622-G-C c.4380C>G p.S1460= Synonymous 69/71 - 1
1-32119622-G-T c.4380C>A p.S1460= Synonymous 69/71 - 1
1-32119623-G-C c.4379C>G p.S1460C Missense 69/71 - 3
1-32119628-G-A c.4374C>T p.Y1458= Synonymous 69/71 - 1
1-32119627-TGTA-T c.4372_4374del p.Y1458del InFrameDeletion 69/71 - 1
1-32119639-T-C c.4363A>G p.M1455V Missense 69/71 - 1
1-32119643-C-A c.4359G>T p.E1453D Missense 69/71 - 1
1-32119643-C-G c.4359G>C p.E1453D Missense 69/71 - 2
1-32120395-T-TC c.4354dup p.D1452Gfs*2 Frameshift 68/71 - 1
1-32120409-G-A c.4341C>T p.I1447= Synonymous 68/71 - 4
1-32120409-G-T c.4341C>A p.I1447= Synonymous 68/71 - 3
1-32120411-AT-A c.4339del p.I1447Sfs*64 Frameshift 68/71 - 1
1-32120418-T-C c.4332A>G p.R1444= Synonymous 68/71 - 1
1-32120423-T-C c.4327A>G p.I1443V Missense 68/71 - 13
1-32120432-T-TG c.4317dup p.K1440Qfs*10 Frameshift 68/71 - 1
1-32120436-T-C c.4314A>G p.E1438= Synonymous 68/71 - 1
1-32120438-C-T c.4312G>A p.E1438K Missense 68/71 - 2
1-32120440-T-G c.4310A>C p.D1437A Missense 68/71 - 1
1-32120447-T-C c.4303A>G p.N1435D Missense 68/71 - 7
1-32120447-T-G c.4303A>C p.N1435H Missense 68/71 - 1
1-32120455-T-A c.4295A>T p.D1432V Missense 68/71 - 1
1-32120458-C-T c.4292G>A p.G1431E Missense 68/71 - 1
1-32120459-C-G c.4291G>C p.G1431R Missense 68/71 - 1
1-32120459-C-T c.4291G>A p.G1431R Missense 68/71 - 2
1-32120834-G-A c.4290+81C>T - IntronicSNV - 67/70 1
1-32120919-G-A c.4286C>T p.S1429F Missense 67/71 - 3
1-32120922-C-G c.4283G>C p.G1428A Missense 67/71 - 1
1-32120929-C-T c.4276G>A p.V1426M Missense 67/71 - 1
1-32120941-C-G c.4264G>C p.G1422R Missense 67/71 - 1
1-32120941-C-T c.4264G>A p.G1422S Missense 67/71 - 1
1-32120944-G-A c.4261C>T p.P1421S Missense 67/71 - 1
1-32120949-CC-TA c.4255_4256delinsTA p.G1419* Nonsense 67/71 - 1
1-32120951-C-A c.4254G>T p.S1418= Synonymous 67/71 - 1
1-32120951-C-G c.4254G>C p.S1418= Synonymous 67/71 - 2
1-32120951-C-T c.4254G>A p.S1418= Synonymous 67/71 - 3
1-32120952-G-A c.4253C>T p.S1418L Missense 67/71 - 5
1-32120947-TCCCCGAAGG-T c.4249_4257del p.P1417_G1419del InFrameDeletion 67/71 - 1
1-32120953-A-G c.4252T>C p.S1418P Missense 67/71 - 1
1-32120955-G-A c.4250C>T p.P1417L Missense 67/71 - 1
1-32120960-C-A c.4245G>T p.P1415= Synonymous 67/71 - 1
1-32120960-C-G c.4245G>C p.P1415= Synonymous 67/71 - 1
1-32120960-C-T c.4245G>A p.P1415= Synonymous 67/71 - 2
1-32120961-G-A c.4244C>T p.P1415L Missense 67/71 - 1
1-32120962-G-A c.4243C>T p.P1415S Missense 67/71 - 3
1-32120966-T-A c.4239A>T p.G1413= Synonymous 67/71 - 1
1-32120966-T-C c.4239A>G p.G1413= Synonymous 67/71 - 1
1-32120966-T-G c.4239A>C p.G1413= Synonymous 67/71 - 1
1-32120974-G-A c.4231C>T p.H1411Y Missense 67/71 - 1
1-32120975-G-A c.4230C>T p.G1410= Synonymous 67/71 - 1
1-32120975-G-C c.4230C>G p.G1410= Synonymous 67/71 - 1
1-32120975-G-T c.4230C>A p.G1410= Synonymous 67/71 - 1
1-32120981-C-T c.4224G>A p.E1408= Synonymous 67/71 - 2
1-32120984-T-A c.4221A>T p.G1407= Synonymous 67/71 - 1
1-32120984-T-C c.4221A>G p.G1407= Synonymous 67/71 - 1
1-32120984-T-G c.4221A>C p.G1407= Synonymous 67/71 - 1
1-32120985-C-A c.4220G>T p.G1407V Missense 67/71 - 3
1-32120988-G-A c.4217C>T p.A1406V Missense 67/71 - 1
1-32120988-G-C c.4217C>G p.A1406G Missense 67/71 - 1
1-32120989-C-A c.4216G>T p.A1406S Missense 67/71 - 1
1-32120992-G-A c.4213C>T p.P1405S Missense 67/71 - 4
1-32120997-G-A c.4208C>T p.P1403L Missense 67/71 - 1
1-32121008-A-C c.4197T>G p.P1399= Synonymous 67/71 - 1
1-32121008-A-G c.4197T>C p.P1399= Synonymous 67/71 - 1
1-32121008-A-T c.4197T>A p.P1399= Synonymous 67/71 - 1
1-32121013-C-A c.4192G>T p.G1398W Missense 67/71 - 1
1-32121014-C-A c.4191G>T p.M1397I Missense 67/71 - 3
1-32121014-C-G c.4191G>C p.M1397I Missense 67/71 - 3
1-32121014-C-T c.4191G>A p.M1397I Missense 67/71 - 3
1-32121018-G-T c.4187C>A p.S1396Y Missense 67/71 - 1
1-32121019-A-G c.4186T>C p.S1396P Missense 67/71 - 1
1-32121021-C-G c.4184G>C p.G1395A Missense 67/71 - 1
1-32121021-C-T c.4184G>A p.G1395D Missense 67/71 - 1
1-32121026-C-A c.4179G>T p.K1393N Missense 67/71 - 1
1-32121026-C-G c.4179G>C p.K1393N Missense 67/71 - 1
1-32121031-C-T c.4174G>A p.G1392S Missense 67/71 - 2
1-32121036-C-T c.4169G>A p.G1390E Missense 67/71 - 1
1-32121035-TC-T c.4169del p.G1390Dfs*45 Frameshift 67/71 - 1
1-32121049-C-T c.4156G>A p.G1386S Missense 67/71 - 1
1-32121052-C-T c.4153G>A p.A1385T Missense 67/71 - 1
1-32121053-TCT-ATG c.4150_4152delinsCAT p.R1384H Missense 67/71 - 2
1-32121054-C-G c.4151G>C p.R1384T Missense 67/71 - 1
1-32121057-C-T c.4148G>A p.G1383E Missense 67/71 - 1
1-32121066-CCTG-C c.4136_4138del p.A1379del InFrameDeletion 67/71 - 1
1-32121084-C-T c.4121G>A p.G1374E Missense 67/71 - 1
1-32121093-C-T c.4112G>A p.G1371E Missense 67/71 - 3
1-32121098-A-G c.4107T>C p.D1369= Synonymous 67/71 - 2
1-32121224-C-A c.4102-121G>T - IntronicSNV - 66/70 1
1-32121224-C-G c.4102-121G>C - IntronicSNV - 66/70 1
1-32121831-A-G c.4101+170T>C - IntronicSNV - 66/70 1
1-32122006-G-A c.4096C>T p.P1366S Missense 66/71 - 2
1-32122013-A-G c.4089T>C p.P1363= Synonymous 66/71 - 3
1-32122014-G-C c.4088C>G p.P1363R Missense 66/71 - 1
1-32122042-G-C c.4060C>G p.P1354A Missense 66/71 - 1
1-32122045-C-T c.4057G>A p.G1353R Missense 66/71 - 1
1-32122164-A-G c.4057-119T>C - IntronicSNV - 65/70 4
1-32122185-G-A c.4057-140C>T - IntronicSNV - 65/70 1
1-32122424-TA-T c.4056+209del - IntronicDeletion - 65/70 1
1-32122424-T-TA c.4056+209dup - IntronicInsertion - 65/70 1
1-32122444-T-A c.4056+190A>T - IntronicSNV - 65/70 1
1-32122449-C-A c.4056+185G>T - IntronicSNV - 65/70 1
1-32122636-C-A c.4054G>T p.E1352* Nonsense 65/71 - 1
1-32122636-C-T c.4054G>A p.E1352K Missense 65/71 - 7
1-32122641-C-G c.4049G>C p.G1350A Missense 65/71 - 1
1-32122649-A-C c.4041T>G p.G1347= Synonymous 65/71 - 1
1-32122649-A-G c.4041T>C p.G1347= Synonymous 65/71 - 1
1-32122649-A-T c.4041T>A p.G1347= Synonymous 65/71 - 1
1-32122656-G-A c.4034C>T p.T1345M Missense 65/71 - 1
1-32122663-G-A c.4027C>T p.P1343S Missense 65/71 - 1
1-32122668-C-T c.4022G>A p.G1341D Missense 65/71 - 1
1-32123691-G-T c.4020+398C>A - IntronicSNV - 64/70 1
1-32123801-T-C c.4020+288A>G - IntronicSNV - 64/70 1
1-32124034-C-T c.4020+55G>A - IntronicSNV - 64/70 1
1-32124089-T-A c.4020A>T p.P1340= Synonymous 64/71 - 1
1-32124089-T-C c.4020A>G p.P1340= Synonymous 64/71 - 1
1-32124089-T-G c.4020A>C p.P1340= Synonymous 64/71 - 1
1-32124091-G-A c.4018C>T p.P1340S Missense 64/71 - 2
1-32124089-T-TG c.4019dup p.G1341Rfs*29 SpliceDonorInsertion 64/71 - 1
1-32124098-A-C c.4011T>G p.P1337= Synonymous 64/71 - 1
1-32124098-A-G c.4011T>C p.P1337= Synonymous 64/71 - 1
1-32124098-A-T c.4011T>A p.P1337= Synonymous 64/71 - 1
1-32124100-G-A c.4009C>T p.P1337S Missense 64/71 - 5
1-32124100-G-T c.4009C>A p.P1337T Missense 64/71 - 1
1-32124102-T-G c.4007A>C p.H1336P Missense 64/71 - 1
1-32124104-T-A c.4005A>T p.G1335= Synonymous 64/71 - 1
1-32124104-T-C c.4005A>G p.G1335= Synonymous 64/71 - 1
1-32124104-T-G c.4005A>C p.G1335= Synonymous 64/71 - 1
1-32124107-A-C c.4002T>G p.P1334= Synonymous 64/71 - 1
1-32124107-A-G c.4002T>C p.P1334= Synonymous 64/71 - 1
1-32124107-A-T c.4002T>A p.P1334= Synonymous 64/71 - 1
1-32124112-G-A c.3997C>T p.P1333S Missense 64/71 - 1
1-32124112-G-T c.3997C>A p.P1333T Missense 64/71 - 1
1-32124115-C-T c.3994G>A p.G1332S Missense 64/71 - 7
1-32124120-T-A c.3989A>T p.Q1330L Missense 64/71 - 1
1-32124125-T-A c.3984A>T p.P1328= Synonymous 64/71 - 1
1-32124125-T-C c.3984A>G p.P1328= Synonymous 64/71 - 1
1-32124125-T-G c.3984A>C p.P1328= Synonymous 64/71 - 3
1-32124126-G-C c.3983C>G p.P1328R Missense 64/71 - 1
1-32124127-G-C c.3982C>G p.P1328A Missense 64/71 - 1
1-32124131-G-A c.3978C>T p.G1326= Synonymous 64/71 - 1
1-32124131-G-C c.3978C>G p.G1326= Synonymous 64/71 - 1
1-32124131-G-T c.3978C>A p.G1326= Synonymous 64/71 - 1
1-32124142-C-T c.3967G>A p.G1323S Missense 64/71 - 1
1-32124150-CC-TT c.3958_3959delinsAA p.G1320K Missense 64/71 - 1
1-32124152-G-A c.3957C>T p.T1319= Synonymous 64/71 - 4
1-32124152-G-T c.3957C>A p.T1319= Synonymous 64/71 - 2
1-32124162-C-T c.3947G>A p.R1316Q Missense 64/71 - 1
1-32124164-G-A c.3945C>T p.D1315= Synonymous 64/71 - 1
1-32124494-G-A c.3930+21C>T - IntronicSNV - 63/70 1
1-32124526-T-C c.3919A>G p.I1307V Missense 63/71 - 1
1-32124525-ATCCCAGCTGG-A c.3910_3919del p.P1304Sfs*6 Frameshift 63/71 - 1
1-32124546-C-G c.3899G>C p.G1300A Missense 63/71 - 1
1-32124550-G-A c.3895C>T p.P1299S Missense 63/71 - 1
1-32124555-C-T c.3890G>A p.G1297E Missense 63/71 - 1
1-32124557-T-A c.3888A>T p.P1296= Synonymous 63/71 - 1
1-32124557-T-C c.3888A>G p.P1296= Synonymous 63/71 - 1
1-32124557-T-G c.3888A>C p.P1296= Synonymous 63/71 - 1
1-32124561-G-A c.3884C>T p.P1295L Missense 63/71 - 2
1-32124597-A-G c.3880-32T>C - IntronicSNV - 62/70 1
1-32125943-A-G c.3879+243T>C - IntronicSNV - 62/70 1
1-32126070-C-T c.3879+116G>A - IntronicSNV - 62/70 1
1-32126113-G-T c.3879+73C>A - IntronicSNV - 62/70 1
1-32126135-C-T c.3879+51G>A - IntronicSNV - 62/70 2
1-32126188-C-T c.3877G>A p.V1293I Missense 62/71 - 2
1-32126189-G-A c.3876C>T p.H1292= Synonymous 62/71 - 1
1-32126190-T-A c.3875A>T p.H1292L Missense 62/71 - 1
1-32126195-C-A c.3870G>T p.P1290= Synonymous 62/71 - 1
1-32126195-C-G c.3870G>C p.P1290= Synonymous 62/71 - 1
1-32126195-C-T c.3870G>A p.P1290= Synonymous 62/71 - 2
1-32126196-G-A c.3869C>T p.P1290L Missense 62/71 - 6
1-32126203-C-T c.3862G>A p.G1288S Missense 62/71 - 4
1-32126208-C-G c.3857G>C p.R1286T Missense 62/71 - 2
1-32126208-C-T c.3857G>A p.R1286K Missense 62/71 - 1
1-32126209-T-C c.3856A>G p.R1286G Missense 62/71 - 1
1-32126208-CT-C c.3856del p.R1286Dfs*27 Frameshift 62/71 - 1
1-32126216-G-A c.3849C>T p.P1283= Synonymous 62/71 - 3
1-32126216-G-C c.3849C>G p.P1283= Synonymous 62/71 - 3
1-32126216-G-T c.3849C>A p.P1283= Synonymous 62/71 - 4
1-32126220-C-T c.3845G>A p.G1282E Missense 62/71 - 1
1-32126222-C-T c.3843G>A p.M1281I Missense 62/71 - 2
1-32126224-T-C c.3841A>G p.M1281V Missense 62/71 - 2
1-32126226-G-A c.3839C>T p.A1280V Missense 62/71 - 1
1-32126233-G-A c.3832C>T p.P1278S Missense 62/71 - 4
1-32126669-C-T c.3823G>A p.E1275K Missense 61/71 - 1
1-32126672-C-T c.3820G>A p.A1274T Missense 61/71 - 1
1-32126673-G-A c.3819C>T p.G1273= Synonymous 61/71 - 2
1-32126673-G-C c.3819C>G p.G1273= Synonymous 61/71 - 1
1-32126673-G-T c.3819C>A p.G1273= Synonymous 61/71 - 1
1-32126675-C-T c.3817G>A p.G1273S Missense 61/71 - 1
1-32126680-C-T c.3812G>A p.R1271Q Missense 61/71 - 2
1-32126679-C-A c.3813G>T p.R1271= Synonymous 61/71 - 1
1-32126679-C-G c.3813G>C p.R1271= Synonymous 61/71 - 1
1-32126679-C-T c.3813G>A p.R1271= Synonymous 61/71 - 1
1-32126681-G-A c.3811C>T p.R1271W Missense 61/71 - 1
1-32126681-G-T c.3811C>A p.R1271= Synonymous 61/71 - 1
1-32126682-G-A c.3810C>T p.G1270= Synonymous 61/71 - 2
1-32126682-G-C c.3810C>G p.G1270= Synonymous 61/71 - 1
1-32126682-G-T c.3810C>A p.G1270= Synonymous 61/71 - 1
1-32126689-C-T c.3803G>A p.S1268N Missense 61/71 - 1
1-32126697-G-A c.3795C>T p.P1265= Synonymous 61/71 - 1
1-32126697-G-C c.3795C>G p.P1265= Synonymous 61/71 - 1
1-32126697-G-T c.3795C>A p.P1265= Synonymous 61/71 - 2
1-32126700-A-C c.3792T>G p.G1264= Synonymous 61/71 - 2
1-32126700-A-G c.3792T>C p.G1264= Synonymous 61/71 - 2
1-32126700-A-T c.3792T>A p.G1264= Synonymous 61/71 - 3
1-32126705-G-A c.3787C>T p.P1263S Missense 61/71 - 1
1-32127020-G-A c.3766C>T p.P1256S Missense 60/71 - 1
1-32127038-G-A c.3748C>T p.H1250Y Missense 60/71 - 2
1-32127048-C-T c.3738G>A p.G1246= Synonymous 60/71 - 1
1-32127053-T-A c.3733A>T p.K1245* Nonsense 60/71 - 1
1-32127261-C-A c.3726G>T p.P1242= Synonymous 59/71 - 1
1-32127261-C-G c.3726G>C p.P1242= Synonymous 59/71 - 1
1-32127261-C-T c.3726G>A p.P1242= Synonymous 59/71 - 3
1-32127269-C-A c.3718G>T p.G1240* Nonsense 59/71 - 2
1-32127273-G-A c.3714C>T p.L1238= Synonymous 59/71 - 3
1-32127273-G-C c.3714C>G p.L1238= Synonymous 59/71 - 2
1-32127273-G-T c.3714C>A p.L1238= Synonymous 59/71 - 3
1-32127276-TCC-GCT c.3709_3711delinsAGC p.G1237S Missense 59/71 - 1
1-32127277-C-T c.3710G>A p.G1237E Missense 59/71 - 1
1-32127278-C-G c.3709G>C p.G1237R Missense 59/71 - 1
1-32127278-C-T c.3709G>A p.G1237R Missense 59/71 - 2
1-32127283-GG-AA c.3703_3704delinsTT p.P1235F Missense 59/71 - 1
1-32127279-A-AG c.3707dup p.G1237Wfs*9 Frameshift 59/71 - 1
1-32127285-G-A c.3702C>T p.G1234= Synonymous 59/71 - 4
1-32127285-G-C c.3702C>G p.G1234= Synonymous 59/71 - 3
1-32127285-G-T c.3702C>A p.G1234= Synonymous 59/71 - 3
1-32127292-G-T c.3695C>A p.P1232H Missense 59/71 - 2
1-32127911-C-T c.3681+24G>A - IntronicSNV - 58/70 5
1-32127933-A-G c.3681+2T>C - IntronicSNV - 58/70 1
1-32127942-C-G c.3674G>C p.G1225A Missense 58/71 - 1
1-32127953-G-A c.3663C>T p.D1221= Synonymous 58/71 - 18
1-32127953-G-C c.3663C>G p.D1221E Missense 58/71 - 4
1-32127954-T-C c.3662A>G p.D1221G Missense 58/71 - 1
1-32127958-T-TA c.3657_3658insT p.K1220* Nonsense 58/71 - 1
1-32127959-C-A c.3657G>T p.G1219= Synonymous 58/71 - 1
1-32127959-CCC-ACA c.3655_3657delinsTGT p.G1219C Missense 58/71 - 1
1-32127959-C-G c.3657G>C p.G1219= Synonymous 58/71 - 1
1-32127959-C-T c.3657G>A p.G1219= Synonymous 58/71 - 1
1-32127979-C-T c.3637G>A p.G1213S Missense 58/71 - 4
1-32128140-T-C c.3627+48A>G - IntronicSNV - 57/70 2
1-32128208-G-A c.3607C>T p.P1203S Missense 57/71 - 2
1-32128218-G-A c.3597C>T p.S1199= Synonymous 57/71 - 1
1-32128218-G-C c.3597C>G p.S1199= Synonymous 57/71 - 1
1-32128218-G-T c.3597C>A p.S1199= Synonymous 57/71 - 3
1-32128231-C-T c.3584G>A p.G1195D Missense 57/71 - 1
1-32128242-T-C c.3573A>G p.R1191= Synonymous 57/71 - 1
1-32128244-G-A c.3571C>T p.R1191* Nonsense 57/71 - 2
1-32128283-C-A c.3556-24G>T - IntronicSNV - 56/70 4
1-32128283-C-G c.3556-24G>C - IntronicSNV - 56/70 4
1-32128288-G-A c.3556-29C>T - IntronicSNV - 56/70 1
1-32128288-G-C c.3556-29C>G - IntronicSNV - 56/70 1
1-32128293-A-C c.3556-34T>G - IntronicSNV - 56/70 1
1-32128293-A-T c.3556-34T>A - IntronicSNV - 56/70 1
1-32130777-T-C c.3551A>G p.E1184G Missense 56/71 - 1
1-32130781-C-A c.3547G>T p.A1183S Missense 56/71 - 1
1-32130790-C-T c.3538G>A p.G1180S Missense 56/71 - 1
1-32130795-G-A c.3533C>T p.P1178L Missense 56/71 - 1
1-32130796-G-C c.3532C>G p.P1178A Missense 56/71 - 1
1-32130819-G-T c.3509C>A p.P1170Q Missense 56/71 - 1
1-32130825-C-T c.3503G>A p.G1168E Missense 56/71 - 2
1-32130832-G-C c.3496C>G p.P1166A Missense 56/71 - 2
1-32130879-G-A c.3493-44C>T - IntronicSNV - 55/70 1
1-32131125-C-A c.3492+59G>T - IntronicSNV - 55/70 1
1-32131125-C-T c.3492+59G>A - IntronicSNV - 55/70 1
1-32131163-C-G c.3492+21G>C - IntronicSNV - 55/70 8
1-32131184-C-A c.3492G>T p.P1164= Synonymous 55/71 - 1
1-32131184-C-G c.3492G>C p.P1164= Synonymous 55/71 - 1
1-32131184-C-T c.3492G>A p.P1164= Synonymous 55/71 - 1
1-32131186-G-A c.3490C>T p.P1164S Missense 55/71 - 1
1-32131189-G-A c.3487C>T p.P1163S Missense 55/71 - 2
1-32131190-G-A c.3486C>T p.G1162= Synonymous 55/71 - 1
1-32131190-G-C c.3486C>G p.G1162= Synonymous 55/71 - 1
1-32131190-G-T c.3486C>A p.G1162= Synonymous 55/71 - 1
1-32131193-C-A c.3483G>T p.P1161= Synonymous 55/71 - 6
1-32131193-C-G c.3483G>C p.P1161= Synonymous 55/71 - 4
1-32131193-C-T c.3483G>A p.P1161= Synonymous 55/71 - 7
1-32131196-A-G c.3480T>C p.F1160= Synonymous 55/71 - 1
1-32131199-G-A c.3477C>T p.G1159= Synonymous 55/71 - 3
1-32131199-G-C c.3477C>G p.G1159= Synonymous 55/71 - 3
1-32131199-G-T c.3477C>A p.G1159= Synonymous 55/71 - 4
1-32131204-G-A c.3472C>T p.P1158S Missense 55/71 - 2
1-32131210-C-G c.3466G>C p.G1156R Missense 55/71 - 1
1-32131219-C-A c.3457G>T p.G1153* Nonsense 55/71 - 1
1-32131219-C-G c.3457G>C p.G1153R Missense 55/71 - 1
1-32131219-C-T c.3457G>A p.G1153R Missense 55/71 - 1
1-32131296-G-A c.3457-77C>T - IntronicSNV - 54/70 1
1-32131488-C-T c.3451G>A p.D1151N Missense 54/71 - 1
1-32131489-G-A c.3450C>T p.G1150= Synonymous 54/71 - 4
1-32131489-G-C c.3450C>G p.G1150= Synonymous 54/71 - 2
1-32131489-G-T c.3450C>A p.G1150= Synonymous 54/71 - 2
1-32131500-C-T c.3439G>A p.G1147S Missense 54/71 - 1
1-32131507-A-G c.3432T>C p.G1144= Synonymous 54/71 - 1
1-32131513-G-A c.3426C>T p.P1142= Synonymous 54/71 - 1
1-32131513-G-C c.3426C>G p.P1142= Synonymous 54/71 - 1
1-32131513-G-T c.3426C>A p.P1142= Synonymous 54/71 - 1
1-32131514-G-A c.3425C>T p.P1142L Missense 54/71 - 2
1-32131517-CCT-C c.3420_3421del p.G1141Tfs*4 Frameshift 54/71 - 1
1-32131518-C-CT c.3420dup p.G1141Rfs*5 Frameshift 54/71 - 1
1-32131520-C-T c.3419G>A p.R1140Q Missense 54/71 - 3
1-32131521-G-A c.3418C>T p.R1140* Nonsense 54/71 - 2
1-32131522-C-A c.3417G>T p.E1139D Missense 54/71 - 1
1-32131522-C-G c.3417G>C p.E1139D Missense 54/71 - 1
1-32131532-G-A c.3407C>T p.P1136L Missense 54/71 - 2
1-32131638-C-A c.3402G>T p.A1134= Synonymous 53/71 - 1
1-32131638-C-G c.3402G>C p.A1134= Synonymous 53/71 - 1
1-32131638-C-T c.3402G>A p.A1134= Synonymous 53/71 - 1
1-32131642-G-A c.3398C>T p.P1133L Missense 53/71 - 1
1-32131645-C-T c.3395G>A p.G1132D Missense 53/71 - 1
1-32131651-G-A c.3389C>T p.P1130L Missense 53/71 - 1
1-32131653-G-A c.3387C>T p.G1129= Synonymous 53/71 - 1
1-32131655-C-T c.3385G>A p.G1129S Missense 53/71 - 2
1-32131658-G-A c.3382C>T p.P1128S Missense 53/71 - 1
1-32131677-G-A c.3363C>T p.P1121= Synonymous 53/71 - 1
1-32131677-G-C c.3363C>G p.P1121= Synonymous 53/71 - 1
1-32131677-G-T c.3363C>A p.P1121= Synonymous 53/71 - 1
1-32131678-G-C c.3362C>G p.P1121R Missense 53/71 - 1
1-32131674-TG-T c.3365del p.P1122Qfs*105 Frameshift 53/71 - 1
1-32131682-C-T c.3358G>A p.G1120S Missense 53/71 - 1
1-32132319-G-A c.3358-637C>T - IntronicSNV - 52/70 2
1-32133178-G-C c.3355C>G p.P1119A Missense 52/71 - 1
1-32133192-C-A c.3341G>T p.G1114V Missense 52/71 - 1
1-32133195-G-A c.3338C>T p.A1113V Missense 52/71 - 4
1-32133200-C-T c.3333G>A p.G1111= Synonymous 52/71 - 1
1-32133203-G-A c.3330C>T p.T1110= Synonymous 52/71 - 3
1-32133203-G-C c.3330C>G p.T1110= Synonymous 52/71 - 2
1-32133203-G-T c.3330C>A p.T1110= Synonymous 52/71 - 2
1-32133213-C-T c.3320G>A p.R1107H Missense 52/71 - 1
1-32133217-C-T c.3316G>A p.E1106K Missense 52/71 - 2
1-32133219-CC-TT c.3313_3314delinsAA p.G1105K Missense 52/71 - 1
1-32133219-C-T c.3314G>A p.G1105E Missense 52/71 - 1
1-32133220-C-T c.3313G>A p.G1105R Missense 52/71 - 1
1-32133223-T-C c.3310A>G p.K1104E Missense 52/71 - 1
1-32133737-C-A c.3303+29G>T - IntronicSNV - 51/70 3
1-32133737-C-T c.3303+29G>A - IntronicSNV - 51/70 4
1-32133767-G-T c.3302C>A p.P1101H Missense 51/71 - 1
1-32133770-A-G c.3299T>C p.L1100P Missense 51/71 - 1
1-32133771-G-C c.3298C>G p.L1100V Missense 51/71 - 1
1-32133776-G-A c.3293C>T p.P1098L Missense 51/71 - 1
1-32133780-G-A c.3289C>T p.P1097S Missense 51/71 - 2
1-32133783-C-A c.3286G>T p.G1096C Missense 51/71 - 1
1-32133785-G-A c.3284C>T p.T1095M Missense 51/71 - 1
1-32133791-C-T c.3278G>A p.G1093D Missense 51/71 - 1
1-32133795-G-T c.3274C>A p.P1092T Missense 51/71 - 1
1-32133800-C-A c.3269G>T p.G1090V Missense 51/71 - 1
1-32133802-T-A c.3267A>T p.P1089= Synonymous 51/71 - 1
1-32133802-T-C c.3267A>G p.P1089= Synonymous 51/71 - 1
1-32133802-T-G c.3267A>C p.P1089= Synonymous 51/71 - 1
1-32133805-T-C c.3264A>G p.Q1088= Synonymous 51/71 - 1
1-32133812-G-A c.3257C>T p.P1086L Missense 51/71 - 6
1-32133816-G-A c.3253C>T p.P1085S Missense 51/71 - 1
1-32133816-G-T c.3253C>A p.P1085T Missense 51/71 - 1
1-32133891-G-A c.3250-72C>T - IntronicSNV - 50/70 1
1-32134407-T-C c.3245A>G p.E1082G Missense 50/71 - 1
1-32134409-C-T c.3243G>A p.G1081= Synonymous 50/71 - 3
1-32134410-C-G c.3242G>C p.G1081A Missense 50/71 - 1
1-32134411-C-T c.3241G>A p.G1081R Missense 50/71 - 1
1-32134413-T-G c.3239A>C p.K1080T Missense 50/71 - 1
1-32134417-C-T c.3235G>A p.D1079N Missense 50/71 - 1
1-32134418-TCC-CCA c.3232_3234delinsTGG p.G1078W Missense 50/71 - 1
1-32134424-C-A c.3228G>T p.L1076= Synonymous 50/71 - 1
1-32134424-C-G c.3228G>C p.L1076= Synonymous 50/71 - 1
1-32134424-C-T c.3228G>A p.L1076= Synonymous 50/71 - 1
1-32134426-G-A c.3226C>T p.L1076= Synonymous 50/71 - 1
1-32134424-CAGGCCCGTGAGACCTCGCTCTCCTTGA-C c.3201_3227del p.Q1068_L1076del InFrameDeletion 50/71 49/70 1
1-32134440-C-T c.3212G>A p.R1071Q Missense 50/71 - 2
1-32134441-G-A c.3211C>T p.R1071* Nonsense 50/71 - 1
1-32134444-C-T c.3208G>A p.E1070K Missense 50/71 - 2
1-32134447-C-T c.3205G>A p.G1069R Missense 50/71 - 1
1-32134456-C-T c.3196G>A p.G1066S Missense 50/71 - 1
1-32134491-C-A c.3196-35G>T - IntronicSNV - 49/70 8
1-32134491-C-G c.3196-35G>C - IntronicSNV - 49/70 8
1-32134491-C-T c.3196-35G>A - IntronicSNV - 49/70 8
1-32134493-G-A c.3196-37C>T - IntronicSNV - 49/70 1
1-32135335-A-G c.3195+868T>C - IntronicSNV - 49/70 1
1-32135495-G-A c.3195+708C>T - IntronicSNV - 49/70 2
1-32135495-G-T c.3195+708C>A - IntronicSNV - 49/70 2
1-32135737-T-C c.3195+466A>G - IntronicSNV - 49/70 1
1-32136163-G-C c.3195+40C>G - IntronicSNV - 49/70 1
1-32136168-G-A c.3195+35C>T - IntronicSNV - 49/70 9
1-32136168-G-C c.3195+35C>G - IntronicSNV - 49/70 11
1-32136168-G-T c.3195+35C>A - IntronicSNV - 49/70 10
1-32136210-C-T c.3188G>A p.G1063E Missense 49/71 - 1
1-32136212-G-A c.3186C>T p.P1062= Synonymous 49/71 - 1
1-32136212-G-C c.3186C>G p.P1062= Synonymous 49/71 - 1
1-32136212-G-T c.3186C>A p.P1062= Synonymous 49/71 - 1
1-32136232-G-T c.3166C>A p.P1056T Missense 49/71 - 1
1-32136238-C-A c.3160G>T p.G1054C Missense 49/71 - 1
1-32136239-T-A c.3159A>T p.P1053= Synonymous 49/71 - 1
1-32136239-T-C c.3159A>G p.P1053= Synonymous 49/71 - 1
1-32136239-T-G c.3159A>C p.P1053= Synonymous 49/71 - 1
1-32136241-G-A c.3157C>T p.P1053S Missense 49/71 - 1
1-32136244-G-A c.3154C>T p.P1052S Missense 49/71 - 1
1-32136398-G-A c.3151-151C>T - IntronicSNV - 48/70 4
1-32136610-C-G c.3151-363G>C - IntronicSNV - 48/70 2
1-32137216-G-A c.3150C>T p.I1050= Synonymous 48/71 - 2
1-32137216-G-T c.3150C>A p.I1050= Synonymous 48/71 - 1
1-32137218-T-C c.3148A>G p.I1050V Missense 48/71 - 1
1-32137235-G-A c.3131C>T p.P1044L Missense 48/71 - 4
1-32137236-G-A c.3130C>T p.P1044S Missense 48/71 - 1
1-32137238-G-A c.3128C>T p.S1043F Missense 48/71 - 2
1-32137241-C-G c.3125G>C p.G1042A Missense 48/71 - 1
1-32137243-C-A c.3123G>T p.R1041S Missense 48/71 - 1
1-32137243-C-G c.3123G>C p.R1041S Missense 48/71 - 1
1-32137244-CT-TA c.3121_3122delinsTA p.R1041* Nonsense 48/71 - 1
1-32137245-T-A c.3121A>T p.R1041W Missense 48/71 - 1
1-32137249-G-A c.3117C>T p.G1039= Synonymous 48/71 - 1
1-32137251-C-A c.3115G>T p.G1039C Missense 48/71 - 1
1-32137256-G-A c.3110C>T p.P1037L Missense 48/71 - 3
1-32137259-C-A c.3107G>T p.G1036V Missense 48/71 - 1
1-32137260-C-A c.3106G>T p.G1036C Missense 48/71 - 1
1-32137260-C-T c.3106G>A p.G1036S Missense 48/71 - 3
1-32138021-TCTC-T c.3098_3100del p.G1033del InFrameDeletion 47/71 - 1
1-32138025-C-G c.3097G>C p.G1033R Missense 47/71 - 1
1-32138029-C-T c.3093G>A p.Q1031= Synonymous 47/71 - 1
1-32138033-C-G c.3089G>C p.G1030A Missense 47/71 - 3
1-32138033-C-T c.3089G>A p.G1030D Missense 47/71 - 1
1-32138034-C-T c.3088G>A p.G1030S Missense 47/71 - 2
1-32138038-C-T c.3084G>A p.L1028= Synonymous 47/71 - 1
1-32138044-C-A c.3078G>T p.P1026= Synonymous 47/71 - 1
1-32138045-G-A c.3077C>T p.P1026L Missense 47/71 - 11
1-32138051-C-G c.3071G>C p.G1024A Missense 47/71 - 1
1-32138059-G-A c.3063C>T p.G1021= Synonymous 47/71 - 1
1-32138059-G-C c.3063C>G p.G1021= Synonymous 47/71 - 1
1-32138059-G-T c.3063C>A p.G1021= Synonymous 47/71 - 1
1-32138060-C-T c.3062G>A p.G1021D Missense 47/71 - 3
1-32138063-G-A c.3059C>T p.P1020L Missense 47/71 - 1
1-32138081-G-A c.3041C>T p.P1014L Missense 47/71 - 3
1-32138082-G-A c.3040C>T p.P1014S Missense 47/71 - 1
1-32138087-C-A c.3035G>T p.G1012V Missense 47/71 - 2
1-32138096-T-C c.3026A>G p.N1009S Missense 47/71 - 4
1-32138107-G-A c.3019-4C>T - IntronicSNV - 46/70 3
1-32138199-G-A c.3016C>T p.R1006W Missense 46/71 - 1
1-32138208-C-T c.3007G>A p.E1003K Missense 46/71 - 2
1-32138209-G-A c.3006C>T p.A1002= Synonymous 46/71 - 1
1-32138209-G-C c.3006C>G p.A1002= Synonymous 46/71 - 1
1-32138209-G-T c.3006C>A p.A1002= Synonymous 46/71 - 1
1-32138220-G-A c.2995C>T p.R999C Missense 46/71 - 2
1-32138222-CT-C c.2993del p.E998Gfs*43 Frameshift 46/71 - 1
1-32138230-C-T c.2985G>A p.L995= Synonymous 46/71 - 1
1-32138232-A-G c.2983T>C p.L995= Synonymous 46/71 - 1
1-32138237-CA-GT c.2977_2978delinsAC p.C993T Missense 46/71 - 1
1-32138329-G-C c.2972C>G p.A991G Missense 45/71 - 1
1-32138330-C-T c.2971G>A p.A991T Missense 45/71 - 2
1-32138331-G-A c.2970C>T p.C990= Synonymous 45/71 - 1
1-32138331-G-T c.2970C>A p.C990* Nonsense 45/71 - 1
1-32138335-T-C c.2966A>G p.N989S Missense 45/71 - 1
1-32138336-T-G c.2965A>C p.N989H Missense 45/71 - 2
1-32138339-C-T c.2962G>A p.D988N Missense 45/71 - 3
1-32138340-G-A c.2961C>T p.L987= Synonymous 45/71 - 2
1-32138340-G-C c.2961C>G p.L987= Synonymous 45/71 - 2
1-32138340-G-T c.2961C>A p.L987= Synonymous 45/71 - 2
1-32138343-GC-G c.2957del p.G986Afs*55 Frameshift 45/71 - 1
1-32138347-G-A c.2954C>T p.P985L Missense 45/71 - 1
1-32138351-C-T c.2950G>A p.V984M Missense 45/71 - 1
1-32138358-G-A c.2943C>T p.I981= Synonymous 45/71 - 1
1-32138358-G-T c.2943C>A p.I981= Synonymous 45/71 - 1
1-32138359-A-G c.2942T>C p.I981T Missense 45/71 - 1
1-32138366-G-A c.2935C>T p.Q979* Nonsense 45/71 - 1
1-32138370-TCC-CCA c.2929_2931delinsTGG p.G977W Missense 45/71 - 1
1-32138371-C-T c.2930G>A p.G977E Missense 45/71 - 1
1-32138381-C-G c.2920G>C p.G974R Missense 45/71 - 1
1-32138381-C-T c.2920G>A p.G974R Missense 45/71 - 1
1-32138388-CAC-GAT c.2911_2913delinsATC p.V971I Missense 45/71 - 1
1-32138391-G-A c.2910C>T p.L970= Synonymous 45/71 - 1
1-32138391-G-C c.2910C>G p.L970= Synonymous 45/71 - 1
1-32138391-G-T c.2910C>A p.L970= Synonymous 45/71 - 1
1-32138394-G-T c.2907C>A p.Y969* Nonsense 45/71 - 2
1-32138399-C-A c.2902G>T p.G968W Missense 45/71 - 1
1-32138402-G-A c.2899C>T p.P967S Missense 45/71 - 1
1-32138407-G-T c.2894C>A p.A965D Missense 45/71 - 1
1-32138408-C-T c.2893G>A p.A965T Missense 45/71 - 1
1-32138412-C-A c.2889G>T p.Q963H Missense 45/71 - 2
1-32138412-C-G c.2889G>C p.Q963H Missense 45/71 - 2
1-32138421-G-A c.2880C>T p.V960= Synonymous 45/71 - 1
1-32138425-C-G c.2876G>C p.C959S Missense 45/71 - 1
1-32138426-A-T c.2875T>A p.C959S Missense 45/71 - 1
1-32138429-C-T c.2872G>A p.D958N Missense 45/71 - 1
1-32138432-C-A c.2869G>T p.G957W Missense 45/71 - 1
1-32138434-C-A c.2867G>T p.C956F Missense 45/71 - 1
1-32138434-C-T c.2867G>A p.C956Y Missense 45/71 - 1
1-32138436-G-A c.2865C>T p.I955= Synonymous 45/71 - 4
1-32138436-G-T c.2865C>A p.I955= Synonymous 45/71 - 1
1-32138440-C-T c.2861G>A p.S954N Missense 45/71 - 1
1-32140305-C-T c.2859+303G>A - IntronicSNV - 44/70 2
1-32140485-A-G c.2859+123T>C - IntronicSNV - 44/70 1
1-32140608-C-T c.2859G>A p.K953= Synonymous 44/71 - 1
1-32140616-G-A c.2851C>T p.L951F Missense 44/71 - 1
1-32140623-T-A c.2844A>T p.E948D Missense 44/71 - 1
1-32140630-G-C c.2837C>G p.P946R Missense 44/71 - 3
1-32140733-C-T c.2827-93G>A - IntronicSNV - 43/70 6
1-32140839-G-A c.2826+20C>T - IntronicSNV - 43/70 1
1-32140859-C-A c.2826G>T p.L942= Synonymous 43/71 - 1
1-32140862-T-C c.2823A>G p.E941= Synonymous 43/71 - 1
1-32140865-TG-GT c.2819_2820delinsAC p.A940D Missense 43/71 - 1
1-32140870-T-C c.2815A>G p.T939A Missense 43/71 - 1
1-32140871-G-A c.2814C>T p.L938= Synonymous 43/71 - 2
1-32140871-G-C c.2814C>G p.L938= Synonymous 43/71 - 1
1-32140871-G-T c.2814C>A p.L938= Synonymous 43/71 - 1
1-32140875-C-A c.2810G>T p.G937V Missense 43/71 - 1
1-32140875-C-G c.2810G>C p.G937A Missense 43/71 - 1
1-32140876-C-A c.2809G>T p.G937W Missense 43/71 - 1
1-32140885-C-G c.2800G>C p.G934R Missense 43/71 - 2
1-32140885-C-T c.2800G>A p.G934R Missense 43/71 - 1
1-32140894-C-T c.2791G>A p.G931S Missense 43/71 - 1
1-32140896-T-C c.2789A>G p.N930S Missense 43/71 - 2
1-32140906-G-A c.2779C>T p.P927S Missense 43/71 - 1
1-32140911-C-T c.2774G>A p.G925E Missense 43/71 - 1
1-32140956-A-G c.2773-44T>C - IntronicSNV - 42/70 1
1-32142555-C-T c.2773-1643G>A - IntronicSNV - 42/70 1
1-32143665-C-T c.2772+1568G>A - IntronicSNV - 42/70 1
1-32143712-C-T c.2772+1521G>A - IntronicSNV - 42/70 1
1-32145009-C-T c.2772+224G>A - IntronicSNV - 42/70 6
1-32145085-C-T c.2772+148G>A - IntronicSNV - 42/70 1
1-32145090-G-A c.2772+143C>T - IntronicSNV - 42/70 1
1-32145098-T-G c.2772+135A>C - IntronicSNV - 42/70 1
1-32145107-G-A c.2772+126C>T - IntronicSNV - 42/70 1
1-32145111-G-A c.2772+122C>T - IntronicSNV - 42/70 1
1-32145111-G-T c.2772+122C>A - IntronicSNV - 42/70 1
1-32145129-GT-G c.2772+103del - IntronicDeletion - 42/70 1
1-32145147-C-T c.2772+86G>A - IntronicSNV - 42/70 1
1-32145152-T-A c.2772+81A>T - IntronicSNV - 42/70 1
1-32145165-G-A c.2772+68C>T - IntronicSNV - 42/70 1
1-32145167-C-T c.2772+66G>A - IntronicSNV - 42/70 1
1-32145170-G-A c.2772+63C>T - IntronicSNV - 42/70 1
1-32145177-C-T c.2772+56G>A - IntronicSNV - 42/70 1
1-32145208-T-A c.2772+25A>T - IntronicSNV - 42/70 1
1-32145226-C-A c.2772+7G>T - IntronicSNV - 42/70 1
1-32145226-C-G c.2772+7G>C - IntronicSNV - 42/70 1
1-32145231-A-C c.2772+2T>G - IntronicSNV - 42/70 1
1-32145236-C-A c.2769G>T p.L923= Synonymous 42/71 - 1
1-32145236-C-G c.2769G>C p.L923= Synonymous 42/71 - 1
1-32145236-C-T c.2769G>A p.L923= Synonymous 42/71 - 1
1-32145238-G-A c.2767C>T p.L923= Synonymous 42/71 - 1
1-32145241-C-T c.2764G>A p.G922R Missense 42/71 - 3
1-32145243-G-A c.2762C>T p.P921L Missense 42/71 - 2
1-32145243-G-T c.2762C>A p.P921H Missense 42/71 - 2
1-32145244-G-A c.2761C>T p.P921S Missense 42/71 - 1
1-32145249-C-T c.2756G>A p.G919E Missense 42/71 - 1
1-32145251-A-C c.2754T>G p.P918= Synonymous 42/71 - 1
1-32145251-A-G c.2754T>C p.P918= Synonymous 42/71 - 1
1-32145251-A-T c.2754T>A p.P918= Synonymous 42/71 - 1
1-32145252-G-T c.2753C>A p.P918H Missense 42/71 - 1
1-32145253-G-A c.2752C>T p.P918S Missense 42/71 - 1
1-32145255-G-A c.2750C>T p.P917L Missense 42/71 - 5
1-32145256-G-T c.2749C>A p.P917T Missense 42/71 - 1
1-32145251-A-AG c.2753dup p.G919Wfs*30 Frameshift 42/71 - 2
1-32145257-G-T c.2748C>A p.G916= Synonymous 42/71 - 1
1-32145259-C-A c.2746G>T p.G916C Missense 42/71 - 1
1-32145259-C-T c.2746G>A p.G916S Missense 42/71 - 1
1-32145262-G-A c.2743C>T p.P915S Missense 42/71 - 1
1-32145265-G-A c.2740C>T p.P914S Missense 42/71 - 1
1-32145269-G-A c.2736C>T p.P912= Synonymous 42/71 - 1
1-32145269-G-C c.2736C>G p.P912= Synonymous 42/71 - 1
1-32145269-G-T c.2736C>A p.P912= Synonymous 42/71 - 3
1-32145270-G-A c.2735C>T p.P912L Missense 42/71 - 1
1-32145271-G-A c.2734C>T p.P912S Missense 42/71 - 1
1-32145272-A-G c.2733T>C p.I911= Synonymous 42/71 - 3
1-32145272-A-T c.2733T>A p.I911= Synonymous 42/71 - 1
1-32145279-G-A c.2726C>T p.P909L Missense 42/71 - 3
1-32145282-G-T c.2723C>A p.P908Q Missense 42/71 - 1
1-32145283-G-A c.2722C>T p.P908S Missense 42/71 - 1
1-32145366-C-T c.2718+39G>A - IntronicSNV - 41/70 1
1-32145408-CG-AT c.2714_2715delinsAT p.P905H Missense 41/71 - 1
1-32145411-G-A c.2712C>T p.G904= Synonymous 41/71 - 1
1-32145411-G-C c.2712C>G p.G904= Synonymous 41/71 - 1
1-32145411-GGC-G c.2711_2712del p.G904Afs*44 Frameshift 41/71 - 1
1-32145411-G-T c.2712C>A p.G904= Synonymous 41/71 - 1
1-32145414-C-A c.2709G>T p.P903= Synonymous 41/71 - 1
1-32145419-G-A c.2704C>T p.Q902* Nonsense 41/71 - 1
1-32145419-G-T c.2704C>A p.Q902K Missense 41/71 - 1
1-32145424-G-A c.2699C>T p.S900F Missense 41/71 - 1
1-32145427-C-A c.2696G>T p.S899I Missense 41/71 - 1
1-32145430-C-T c.2693G>A p.G898D Missense 41/71 - 1
1-32145431-C-T c.2692G>A p.G898S Missense 41/71 - 3
1-32145445-G-A c.2678C>T p.P893L Missense 41/71 - 2
1-32145445-G-C c.2678C>G p.P893R Missense 41/71 - 1
1-32145451-C-T c.2672G>A p.G891D Missense 41/71 - 1
1-32145644-G-A c.2669C>T p.P890L Missense 40/71 - 1
1-32145647-A-T c.2666T>A p.M889K Missense 40/71 - 1
1-32145655-G-T c.2658C>A p.F886L Missense 40/71 - 1
1-32145658-G-A c.2655C>T p.I885= Synonymous 40/71 - 1
1-32145658-G-T c.2655C>A p.I885= Synonymous 40/71 - 3
1-32145665-T-A c.2648A>T p.D883V Missense 40/71 - 1
1-32145669-C-T c.2644G>A p.G882R Missense 40/71 - 2
1-32145673-A-G c.2640T>C p.S880= Synonymous 40/71 - 2
1-32145674-G-A c.2639C>T p.S880F Missense 40/71 - 1
1-32145676-G-T c.2637C>A p.P879= Synonymous 40/71 - 1
1-32145677-G-A c.2636C>T p.P879L Missense 40/71 - 1
1-32145679-G-T c.2634C>A p.C878* Nonsense 40/71 - 1
1-32145681-A-G c.2632T>C p.C878R Missense 40/71 - 1
1-32145683-G-A c.2630C>T p.S877F Missense 40/71 - 2
1-32145691-C-T c.2622G>A p.G874= Synonymous 40/71 - 1
1-32145692-C-A c.2621G>T p.G874V Missense 40/71 - 1
1-32145693-C-G c.2620G>C p.G874R Missense 40/71 - 5
1-32145693-C-T c.2620G>A p.G874R Missense 40/71 - 14
1-32145695-G-A c.2618C>T p.P873L Missense 40/71 - 1
1-32145701-C-A c.2612G>T p.G871V Missense 40/71 - 1
1-32146412-G-A c.2610+94C>T - IntronicSNV - 39/70 1
1-32146425-C-T c.2610+81G>A - IntronicSNV - 39/70 5
1-32146505-C-A c.2610+1G>T - IntronicSNV - 39/70 1
1-32146505-C-T c.2610+1G>A - IntronicSNV - 39/70 2
1-32146511-C-A c.2605G>T p.E869* Nonsense 39/71 - 1
1-32146516-C-T c.2600G>A p.R867Q Missense 39/71 - 3
1-32146519-G-A c.2597C>T p.P866L Missense 39/71 - 1
1-32146520-G-A c.2596C>T p.P866S Missense 39/71 - 2
1-32146522-C-A c.2594G>T p.G865V Missense 39/71 - 1
1-32146522-C-G c.2594G>C p.G865A Missense 39/71 - 1
1-32146524-T-C c.2592A>G p.K864= Synonymous 39/71 - 2
1-32146529-C-G c.2587G>C p.E863Q Missense 39/71 - 1
1-32146531-C-G c.2585G>C p.G862A Missense 39/71 - 1
1-32146532-C-G c.2584G>C p.G862R Missense 39/71 - 1
1-32146624-T-A c.2583A>T p.P861= Synonymous 38/71 - 1
1-32146624-T-C c.2583A>G p.P861= Synonymous 38/71 - 2
1-32146624-T-G c.2583A>C p.P861= Synonymous 38/71 - 1
1-32146625-G-T c.2582C>A p.P861Q Missense 38/71 - 1
1-32146626-G-A c.2581C>T p.P861S Missense 38/71 - 1
1-32146628-G-A c.2579C>T p.T860I Missense 38/71 - 1
1-32146629-T-C c.2578A>G p.T860A Missense 38/71 - 2
1-32146631-C-G c.2576G>C p.G859A Missense 38/71 - 1
1-32146636-G-A c.2571C>T p.L857= Synonymous 38/71 - 2
1-32146636-G-C c.2571C>G p.L857= Synonymous 38/71 - 1
1-32146636-G-T c.2571C>A p.L857= Synonymous 38/71 - 2
1-32146637-A-T c.2570T>A p.L857H Missense 38/71 - 1
1-32146638-G-A c.2569C>T p.L857F Missense 38/71 - 1
1-32146642-C-A c.2565G>T p.T855= Synonymous 38/71 - 1
1-32146642-C-T c.2565G>A p.T855= Synonymous 38/71 - 1
1-32146643-G-A c.2564C>T p.T855M Missense 38/71 - 2
1-32146647-G-A c.2560C>T p.Q854* Nonsense 38/71 - 1
1-32146649-C-T c.2558G>A p.G853E Missense 38/71 - 1
1-32146654-C-A c.2553G>T p.Q851H Missense 38/71 - 2
1-32146654-C-G c.2553G>C p.Q851H Missense 38/71 - 1
1-32146654-C-T c.2553G>A p.Q851= Synonymous 38/71 - 1
1-32146658-C-G c.2549G>C p.G850A Missense 38/71 - 1
1-32146661-T-A c.2546A>T p.D849V Missense 38/71 - 1
1-32146662-C-G c.2545G>C p.D849H Missense 38/71 - 1
1-32146664-C-T c.2543G>A p.R848H Missense 38/71 - 1
1-32146665-G-A c.2542C>T p.R848C Missense 38/71 - 6
1-32146665-G-C c.2542C>G p.R848G Missense 38/71 - 1
1-32146666-G-A c.2541C>T p.G847= Synonymous 38/71 - 1
1-32146667-C-A c.2540G>T p.G847V Missense 38/71 - 1
1-32146667-C-T c.2540G>A p.G847D Missense 38/71 - 1
1-32146718-C-G c.2539-50G>C - IntronicSNV - 37/70 1
1-32146764-C-T c.2539-96G>A - IntronicSNV - 37/70 2
1-32148530-C-T c.2538+5G>A - IntronicSNV - 37/70 1
1-32148535-C-A c.2538G>T p.P846= Synonymous 37/71 - 2
1-32148535-C-T c.2538G>A p.P846= Synonymous 37/71 - 2
1-32148541-C-A c.2532G>T p.G844= Synonymous 37/71 - 1
1-32148541-C-G c.2532G>C p.G844= Synonymous 37/71 - 1
1-32148541-C-T c.2532G>A p.G844= Synonymous 37/71 - 1
1-32148542-C-T c.2531G>A p.G844E Missense 37/71 - 1
1-32148545-G-A c.2528C>T p.S843F Missense 37/71 - 1
1-32148545-G-C c.2528C>G p.S843C Missense 37/71 - 1
1-32148549-C-T c.2524G>A p.V842I Missense 37/71 - 1
1-32148550-A-G c.2523T>C p.S841= Synonymous 37/71 - 1
1-32148551-C-T c.2522G>A p.S841N Missense 37/71 - 1
1-32148555-C-A c.2518G>T p.A840S Missense 37/71 - 1
1-32148558-C-T c.2515G>A p.G839R Missense 37/71 - 1
1-32148561-G-A c.2512C>T p.P838S Missense 37/71 - 4
1-32148563-G-A c.2510C>T p.P837L Missense 37/71 - 2
1-32148570-C-T c.2503G>A p.V835M Missense 37/71 - 2
1-32148571-A-C c.2502T>G p.P834= Synonymous 37/71 - 18
1-32148571-A-G c.2502T>C p.P834= Synonymous 37/71 - 23
1-32148571-A-T c.2502T>A p.P834= Synonymous 37/71 - 18
1-32148577-G-A c.2496C>T p.T832= Synonymous 37/71 - 3
1-32148577-G-C c.2496C>G p.T832= Synonymous 37/71 - 2
1-32148577-G-T c.2496C>A p.T832= Synonymous 37/71 - 1
1-32148578-G-A c.2495C>T p.T832I Missense 37/71 - 1
1-32148581-G-A c.2492C>T p.A831V Missense 37/71 - 1
1-32148586-T-A c.2487A>T p.K829N Missense 37/71 - 2
1-32148586-T-G c.2487A>C p.K829N Missense 37/71 - 2
1-32148593-C-A c.2480G>T p.G827V Missense 37/71 - 3
1-32148602-C-A c.2471G>T p.G824V Missense 37/71 - 1
1-32148635-G-A c.2470-32C>T - IntronicSNV - 36/70 1
1-32148774-C-T c.2469+21G>A - IntronicSNV - 36/70 1
1-32148795-C-A c.2469G>T p.Q823H Missense 36/71 - 1
1-32148802-C-T c.2462G>A p.G821D Missense 36/71 - 1
1-32148811-C-G c.2453G>C p.G818A Missense 36/71 - 1
1-32148816-G-A c.2448C>T p.P816= Synonymous 36/71 - 2
1-32148816-G-C c.2448C>G p.P816= Synonymous 36/71 - 1
1-32148816-G-T c.2448C>A p.P816= Synonymous 36/71 - 1
1-32148818-G-A c.2446C>T p.P816S Missense 36/71 - 2
1-32148824-G-A c.2440C>T p.P814S Missense 36/71 - 1
1-32148830-C-G c.2434G>C p.G812R Missense 36/71 - 1
1-32148830-C-T c.2434G>A p.G812R Missense 36/71 - 1
1-32148832-C-T c.2432G>A p.R811Q Missense 36/71 - 2
1-32148836-G-A c.2428C>T p.P810S Missense 36/71 - 2
1-32148840-C-A c.2424G>T p.P808= Synonymous 36/71 - 1
1-32148840-C-G c.2424G>C p.P808= Synonymous 36/71 - 1
1-32148840-C-T c.2424G>A p.P808= Synonymous 36/71 - 2
1-32148841-G-A c.2423C>T p.P808L Missense 36/71 - 2
1-32148845-G-C c.2419C>G p.L807V Missense 36/71 - 2
1-32148847-C-T c.2417G>A p.G806E Missense 36/71 - 1
1-32148936-T-A c.2414A>T p.Q805L Missense 35/71 - 1
1-32148937-G-A c.2413C>T p.Q805* Nonsense 35/71 - 2
1-32148943-C-G c.2407G>C p.G803R Missense 35/71 - 1
1-32148948-A-G c.2402T>C p.L801S Missense 35/71 - 1
1-32148947-C-CA c.2402dup p.L801Ffs*49 Frameshift 35/71 - 1
1-32148955-G-A c.2395C>T p.P799S Missense 35/71 - 1
1-32148956-G-A c.2394C>T p.A798= Synonymous 35/71 - 2
1-32148956-G-C c.2394C>G p.A798= Synonymous 35/71 - 1
1-32148956-G-T c.2394C>A p.A798= Synonymous 35/71 - 1
1-32148960-C-A c.2390G>T p.G797V Missense 35/71 - 2
1-32148960-C-G c.2390G>C p.G797A Missense 35/71 - 1
1-32148963-G-T c.2387C>A p.P796H Missense 35/71 - 1
1-32148964-G-T c.2386C>A p.P796T Missense 35/71 - 1
1-32148967-C-CA c.2382_2383insT p.E795* Nonsense 35/71 - 1
1-32148967-C-G c.2383G>C p.E795Q Missense 35/71 - 1
1-32148967-C-T c.2383G>A p.E795K Missense 35/71 - 1
1-32148970-C-A c.2380G>T p.G794W Missense 35/71 - 1
1-32149089-C-T c.2380-119G>A - IntronicSNV - 34/70 1
1-32149263-A-AT c.2379+44dup - IntronicInsertion - 34/70 1
1-32149310-G-A c.2377C>T p.Q793* Nonsense 34/71 - 1
1-32149314-T-A c.2373A>T p.G791= Synonymous 34/71 - 1
1-32149314-T-C c.2373A>G p.G791= Synonymous 34/71 - 1
1-32149314-T-G c.2373A>C p.G791= Synonymous 34/71 - 1
1-32149317-C-A c.2370G>T p.Q790H Missense 34/71 - 1
1-32149317-C-G c.2370G>C p.Q790H Missense 34/71 - 1
1-32149324-C-T c.2363G>A p.G788E Missense 34/71 - 2
1-32149326-C-T c.2361G>A p.R787= Synonymous 34/71 - 1
1-32149328-T-G c.2359A>C p.R787= Synonymous 34/71 - 1
1-32149330-C-T c.2357G>A p.G786E Missense 34/71 - 2
1-32149331-C-T c.2356G>A p.G786R Missense 34/71 - 1
1-32149336-G-A c.2351C>T p.P784L Missense 34/71 - 4
1-32149339-C-A c.2348G>T p.G783V Missense 34/71 - 2
1-32149347-TCC-GCT c.2338_2340delinsAGC p.G780S Missense 34/71 - 1
1-32149349-C-G c.2338G>C p.G780R Missense 34/71 - 1
1-32149349-C-T c.2338G>A p.G780R Missense 34/71 - 1
1-32149551-C-T c.2337G>A p.Q779= Synonymous 33/71 - 2
1-32149551-C-CT c.2336dup p.E781Rfs*69 SpliceDonorInsertion 33/71 - 1
1-32149555-A-C c.2333T>G p.V778G Missense 33/71 - 1
1-32149556-C-A c.2332G>T p.V778L Missense 33/71 - 1
1-32149556-C-G c.2332G>C p.V778L Missense 33/71 - 1
1-32149557-G-A c.2331C>T p.G777= Synonymous 33/71 - 3
1-32149557-G-C c.2331C>G p.G777= Synonymous 33/71 - 1
1-32149557-G-T c.2331C>A p.G777= Synonymous 33/71 - 2
1-32149558-C-A c.2330G>T p.G777V Missense 33/71 - 1
1-32149562-T-A c.2326A>T p.K776* Nonsense 33/71 - 1
1-32149563-C-T c.2325G>A p.L775= Synonymous 33/71 - 1
1-32149568-C-T c.2320G>A p.G774R Missense 33/71 - 2
1-32149574-G-A c.2314C>T p.P772S Missense 33/71 - 3
1-32149576-C-T c.2312G>A p.G771E Missense 33/71 - 1
1-32149577-C-G c.2311G>C p.G771R Missense 33/71 - 1
1-32149577-C-T c.2311G>A p.G771R Missense 33/71 - 1
1-32149580-G-A c.2308C>T p.Q770* Nonsense 33/71 - 1
1-32149585-C-T c.2303G>A p.G768E Missense 33/71 - 1
1-32149586-C-T c.2302G>A p.G768R Missense 33/71 - 1
1-32149587-T-A c.2301A>T p.P767= Synonymous 33/71 - 1
1-32149587-T-C c.2301A>G p.P767= Synonymous 33/71 - 1
1-32149587-T-G c.2301A>C p.P767= Synonymous 33/71 - 1
1-32149591-A-G c.2297T>C p.L766P Missense 33/71 - 1
1-32149596-G-A c.2292C>T p.P764= Synonymous 33/71 - 2
1-32149596-G-C c.2292C>G p.P764= Synonymous 33/71 - 1
1-32149596-G-T c.2292C>A p.P764= Synonymous 33/71 - 1
1-32149601-G-A c.2287C>T p.Q763* Nonsense 33/71 - 1
1-32149604-C-G c.2284G>C p.G762R Missense 33/71 - 1
1-32149718-C-T c.2275G>A p.G759S Missense 32/71 - 3
1-32149721-G-C c.2272C>G p.P758A Missense 32/71 - 9
1-32149723-C-A c.2270G>T p.R757L Missense 32/71 - 1
1-32149723-CG-C c.2269del p.R757Dfs*19 Frameshift 32/71 - 1
1-32149727-C-A c.2266G>T p.G756C Missense 32/71 - 1
1-32149728-C-A c.2265G>T p.V755= Synonymous 32/71 - 1
1-32149728-C-G c.2265G>C p.V755= Synonymous 32/71 - 1
1-32149728-C-T c.2265G>A p.V755= Synonymous 32/71 - 1
1-32149730-C-T c.2263G>A p.V755M Missense 32/71 - 1
1-32149736-TC-T c.2257del p.E753Kfs*23 Frameshift 32/71 - 1
1-32149737-G-A c.2256C>T p.P752= Synonymous 32/71 - 1
1-32149737-G-C c.2256C>G p.P752= Synonymous 32/71 - 1
1-32149737-G-T c.2256C>A p.P752= Synonymous 32/71 - 1
1-32149746-C-T c.2247G>A p.E749= Synonymous 32/71 - 2
1-32149755-G-A c.2238C>T p.P746= Synonymous 32/71 - 1
1-32149755-G-C c.2238C>G p.P746= Synonymous 32/71 - 1
1-32149755-G-T c.2238C>A p.P746= Synonymous 32/71 - 1
1-32149758-G-A c.2235C>T p.G745= Synonymous 32/71 - 1
1-32149760-C-A c.2233G>T p.G745C Missense 32/71 - 1
1-32149760-C-G c.2233G>C p.G745R Missense 32/71 - 1
1-32149760-C-T c.2233G>A p.G745S Missense 32/71 - 7
1-32149769-C-A c.2224G>T p.G742W Missense 32/71 - 4
1-32149774-C-T c.2219G>A p.R740Q Missense 32/71 - 1
1-32149781-C-T c.2212G>A p.A738T Missense 32/71 - 1
1-32149802-G-A c.2191C>T p.Q731* Nonsense 32/71 - 1
1-32149809-G-A c.2184C>T p.P728= Synonymous 32/71 - 2
1-32149824-G-T c.2169C>A p.G723= Synonymous 32/71 - 1
1-32149832-C-A c.2161G>T p.G721C Missense 32/71 - 1
1-32149982-A-T c.2160+142T>A - IntronicSNV - 31/70 5
1-32150124-C-A c.2160G>T p.K720N Missense 31/71 - 1
1-32150126-T-C c.2158A>G p.K720E Missense 31/71 - 1
1-32150129-C-T c.2155G>A p.E719K Missense 31/71 - 1
1-32150132-C-T c.2152G>A p.G718R Missense 31/71 - 2
1-32150142-C-A c.2142G>T p.A714= Synonymous 31/71 - 1
1-32150142-C-G c.2142G>C p.A714= Synonymous 31/71 - 1
1-32150142-C-T c.2142G>A p.A714= Synonymous 31/71 - 3
1-32150143-G-A c.2141C>T p.A714V Missense 31/71 - 3
1-32150144-C-T c.2140G>A p.A714T Missense 31/71 - 1
1-32150146-G-A c.2138C>T p.P713L Missense 31/71 - 3
1-32150147-G-A c.2137C>T p.P713S Missense 31/71 - 1
1-32150144-CG-C c.2139del p.A714Rfs*21 Frameshift 31/71 - 1
1-32150153-G-A c.2131C>T p.Q711* Nonsense 31/71 - 2
1-32150167-C-A c.2117G>T p.G706V Missense 31/71 - 4
1-32150170-G-A c.2114C>T p.S705L Missense 31/71 - 2
1-32150170-G-C c.2114C>G p.S705* Nonsense 31/71 - 1
1-32150170-G-T c.2114C>A p.S705* Nonsense 31/71 - 1
1-32150173-A-G c.2111T>C p.L704P Missense 31/71 - 1
1-32150176-C-G c.2108G>C p.G703A Missense 31/71 - 1
1-32150182-C-T c.2102G>A p.R701Q Missense 31/71 - 1
1-32150183-G-A c.2101C>T p.R701W Missense 31/71 - 2
1-32150196-C-A c.2088G>T p.P696= Synonymous 31/71 - 1
1-32150196-C-G c.2088G>C p.P696= Synonymous 31/71 - 1
1-32150196-C-T c.2088G>A p.P696= Synonymous 31/71 - 2
1-32150197-G-A c.2087C>T p.P696L Missense 31/71 - 2
1-32150202-TC-T c.2081del p.G694Efs*41 Frameshift 31/71 - 1
1-32150204-C-A c.2080G>T p.G694* Nonsense 31/71 - 4
1-32150205-A-C c.2079T>G p.P693= Synonymous 31/71 - 1
1-32150205-A-G c.2079T>C p.P693= Synonymous 31/71 - 1
1-32150205-A-T c.2079T>A p.P693= Synonymous 31/71 - 1
1-32150205-CA-C c.2079del p.G694Efs*41 Frameshift 31/71 - 1
1-32150207-G-A c.2077C>T p.P693S Missense 31/71 - 2
1-32150212-C-T c.2072G>A p.G691E Missense 31/71 - 1
1-32150215-G-A c.2069C>T p.P690L Missense 31/71 - 1
1-32150225-C-A c.2059G>T p.A687S Missense 31/71 - 2
1-32150400-G-A c.2052+22C>T - IntronicSNV - 30/70 1
1-32150400-G-C c.2052+22C>G - IntronicSNV - 30/70 1
1-32150411-C-G c.2052+11G>C - IntronicSNV - 30/70 2
1-32150411-C-T c.2052+11G>A - IntronicSNV - 30/70 1
1-32150425-C-A c.2049G>T p.Q683H Missense 30/71 - 2
1-32150436-G-T c.2038C>A p.L680M Missense 30/71 - 1
1-32150441-C-A c.2033G>T p.R678L Missense 30/71 - 1
1-32150441-C-T c.2033G>A p.R678H Missense 30/71 - 2
1-32150442-G-A c.2032C>T p.R678C Missense 30/71 - 2
1-32150443-C-T c.2031G>A p.E677= Synonymous 30/71 - 2
1-32150447-C-T c.2027G>A p.G676E Missense 30/71 - 1
1-32150446-TCCAGCCTTGCC-T c.2017_2027del p.G673Rfs*10 SpliceAcceptorDeletion 30/71 29/70 1
1-32150448-C-T c.2026G>A p.G676R Missense 30/71 - 1
1-32150455-GC-CT c.2018_2019delinsAG p.G673E Missense 30/71 - 1
1-32150483-C-T c.2017-26G>A - IntronicSNV - 29/70 2
1-32151149-G-A c.2016+91C>T - IntronicSNV - 29/70 1
1-32151247-C-G c.2009G>C p.G670A Missense 29/71 - 1
1-32151251-G-A c.2005C>T p.P669S Missense 29/71 - 1
1-32151251-G-C c.2005C>G p.P669A Missense 29/71 - 2
1-32151251-G-T c.2005C>A p.P669T Missense 29/71 - 1
1-32151262-C-A c.1994G>T p.G665V Missense 29/71 - 1
1-32151262-C-T c.1994G>A p.G665D Missense 29/71 - 1
1-32151267-A-C c.1989T>G p.P663= Synonymous 29/71 - 1
1-32151267-A-G c.1989T>C p.P663= Synonymous 29/71 - 1
1-32151267-A-T c.1989T>A p.P663= Synonymous 29/71 - 1
1-32151268-G-A c.1988C>T p.P663L Missense 29/71 - 2
1-32151272-C-T c.1984G>A p.G662R Missense 29/71 - 1
1-32151289-C-T c.1967G>A p.G656E Missense 29/71 - 1
1-32151290-C-G c.1966G>C p.G656R Missense 29/71 - 1
1-32151290-C-T c.1966G>A p.G656R Missense 29/71 - 1
1-32151291-G-A c.1965C>T p.S655= Synonymous 29/71 - 5
1-32151291-G-C c.1965C>G p.S655= Synonymous 29/71 - 3
1-32151291-G-T c.1965C>A p.S655= Synonymous 29/71 - 3
1-32151294-T-A c.1962A>T p.P654= Synonymous 29/71 - 1
1-32151294-T-C c.1962A>G p.P654= Synonymous 29/71 - 1
1-32151294-T-G c.1962A>C p.P654= Synonymous 29/71 - 3
1-32151296-G-C c.1960C>G p.P654A Missense 29/71 - 1
1-32151298-C-G c.1958G>C p.G653A Missense 29/71 - 1
1-32151314-C-A c.1942G>T p.V648L Missense 29/71 - 1
1-32151315-A-C c.1941T>G p.R647= Synonymous 29/71 - 1
1-32151315-A-G c.1941T>C p.R647= Synonymous 29/71 - 1
1-32151315-A-T c.1941T>A p.R647= Synonymous 29/71 - 1
1-32151316-C-T c.1940G>A p.R647H Missense 29/71 - 1
1-32151317-G-A c.1939C>T p.R647C Missense 29/71 - 2
1-32151318-G-A c.1938C>T p.V646= Synonymous 29/71 - 2
1-32151318-G-C c.1938C>G p.V646= Synonymous 29/71 - 1
1-32151318-G-T c.1938C>A p.V646= Synonymous 29/71 - 1
1-32151320-C-A c.1936G>T p.V646F Missense 29/71 - 1
1-32151321-A-C c.1935T>G p.D645E Missense 29/71 - 1
1-32151321-A-T c.1935T>A p.D645E Missense 29/71 - 1
1-32151323-C-T c.1933G>A p.D645N Missense 29/71 - 1
1-32151326-C-T c.1930G>A p.G644R Missense 29/71 - 1
1-32151331-T-C c.1925A>G p.Q642R Missense 29/71 - 4
1-32151332-G-A c.1924C>T p.Q642* Nonsense 29/71 - 1
1-32151342-C-A c.1914G>T p.L638= Synonymous 29/71 - 1
1-32151342-CAG-AAA c.1912_1914delinsTTT p.L638F Missense 29/71 - 1
1-32151343-A-G c.1913T>C p.L638P Missense 29/71 - 2
1-32151346-G-A c.1910C>T p.A637V Missense 29/71 - 2
1-32151349-G-A c.1907C>T p.P636L Missense 29/71 - 1
1-32151350-G-A c.1906C>T p.P636S Missense 29/71 - 1
1-32151351-G-T c.1905C>A p.C635* Nonsense 29/71 - 1
1-32151352-C-T c.1904G>A p.C635Y Missense 29/71 - 1
1-32151356-G-C c.1900C>G p.P634A Missense 29/71 - 1
1-32151357-C-T c.1899G>A p.E633= Synonymous 29/71 - 1
1-32151361-C-A c.1895G>T p.C632F Missense 29/71 - 1
1-32151362-A-G c.1894T>C p.C632R Missense 29/71 - 1
1-32151364-G-A c.1892C>T p.P631L Missense 29/71 - 1
1-32151365-G-A c.1891C>T p.P631S Missense 29/71 - 2
1-32151366-C-A c.1890G>T p.E630D Missense 29/71 - 1
1-32151369-C-A c.1887G>T p.G629= Synonymous 29/71 - 1
1-32151369-C-G c.1887G>C p.G629= Synonymous 29/71 - 1
1-32151369-C-T c.1887G>A p.G629= Synonymous 29/71 - 1
1-32151694-T-A c.1882A>T p.K628* Nonsense 28/71 - 1
1-32151695-C-A c.1881G>T p.A627= Synonymous 28/71 - 1
1-32151695-C-G c.1881G>C p.A627= Synonymous 28/71 - 1
1-32151695-C-T c.1881G>A p.A627= Synonymous 28/71 - 2
1-32151702-T-C c.1874A>G p.K625R Missense 28/71 - 1
1-32151706-T-C c.1870A>G p.I624V Missense 28/71 - 1
1-32151712-C-T c.1864G>A p.A622T Missense 28/71 - 6
1-32151724-G-T c.1852C>A p.P618T Missense 28/71 - 1
1-32151727-C-T c.1849G>A p.G617R Missense 28/71 - 1
1-32151730-G-A c.1846C>T p.P616S Missense 28/71 - 1
1-32151733-G-A c.1843C>T p.P615S Missense 28/71 - 1
1-32151735-C-T c.1841G>A p.G614E Missense 28/71 - 2
1-32151736-C-A c.1840G>T p.G614W Missense 28/71 - 1
1-32151740-C-A c.1840-4G>T - IntronicSNV - 27/70 1
1-32151846-G-A c.1838C>T p.P613L Missense 27/71 - 2
1-32151848-A-C c.1836T>G p.S612R Missense 27/71 - 1
1-32151848-A-T c.1836T>A p.S612R Missense 27/71 - 1
1-32151850-T-G c.1834A>C p.S612R Missense 27/71 - 1
1-32151852-C-T c.1832G>A p.G611D Missense 27/71 - 1
1-32151871-C-G c.1813G>C p.G605R Missense 27/71 - 1
1-32151871-C-T c.1813G>A p.G605R Missense 27/71 - 1
1-32151875-G-A c.1809C>T p.N603= Synonymous 27/71 - 1
1-32154000-C-T c.1803+68G>A - IntronicSNV - 26/70 1
1-32154048-A-G c.1803+20T>C - IntronicSNV - 26/70 1
1-32154067-C-T c.1803+1G>A - IntronicSNV - 26/70 1
1-32154073-C-T c.1798G>A p.E600K Missense 26/71 - 2
1-32154075-C-T c.1796G>A p.G599E Missense 26/71 - 1
1-32154077-T-A c.1794A>T p.K598N Missense 26/71 - 1
1-32154077-T-G c.1794A>C p.K598N Missense 26/71 - 1
1-32154078-T-C c.1793A>G p.K598R Missense 26/71 - 3
1-32154088-G-T c.1783C>A p.P595T Missense 26/71 - 1
1-32154090-A-G c.1781T>C p.V594A Missense 26/71 - 1
1-32154091-C-G c.1780G>C p.V594L Missense 26/71 - 1
1-32154092-CCC-GCT c.1777_1779delinsAGC p.G593S Missense 26/71 - 1
1-32154096-G-A c.1775C>T p.A592V Missense 26/71 - 1
1-32154099-C-T c.1772G>A p.R591K Missense 26/71 - 1
1-32154103-C-G c.1768G>C p.G590R Missense 26/71 - 1
1-32154463-G-A c.1766C>T p.P589L Missense 25/71 - 1
1-32154464-G-A c.1765C>T p.P589S Missense 25/71 - 1
1-32154471-A-C c.1758T>G p.P586= Synonymous 25/71 - 1
1-32154471-A-G c.1758T>C p.P586= Synonymous 25/71 - 1
1-32154471-A-T c.1758T>A p.P586= Synonymous 25/71 - 1
1-32154473-G-A c.1756C>T p.P586S Missense 25/71 - 1
1-32154481-A-G c.1748T>C p.F583S Missense 25/71 - 1
1-32154480-A-C c.1749T>G p.F583L Missense 25/71 - 1
1-32154480-A-T c.1749T>A p.F583L Missense 25/71 - 1
1-32154482-A-G c.1747T>C p.F583L Missense 25/71 - 1
1-32154502-C-A c.1727G>T p.G576V Missense 25/71 - 2
1-32154508-G-C c.1721C>G p.A574G Missense 25/71 - 1
1-32154508-G-T c.1721C>A p.A574D Missense 25/71 - 1
1-32154509-C-G c.1720G>C p.A574P Missense 25/71 - 1
1-32154510-C-T c.1719G>A p.G573= Synonymous 25/71 - 1
1-32154511-C-CTT c.1717_1718insAA p.G573Efs*26 Frameshift 25/71 - 1
1-32154523-A-C c.1706T>G p.V569G Missense 25/71 - 1
1-32154525-A-G c.1704T>C p.L568= Synonymous 25/71 - 1
1-32154530-G-T c.1699C>A p.H567N Missense 25/71 - 1
1-32154536-C-T c.1693G>A p.A565T Missense 25/71 - 1
1-32154538-C-T c.1691G>A p.G564E Missense 25/71 - 1
1-32154542-C-T c.1687G>A p.V563I Missense 25/71 - 1
1-32154545-C-A c.1684G>T p.V562F Missense 25/71 - 1
1-32154546-C-A c.1683G>T p.S561= Synonymous 25/71 - 1
1-32154547-G-A c.1682C>T p.S561L Missense 25/71 - 1
1-32154558-C-A c.1671G>T p.L557F Missense 25/71 - 1
1-32154558-C-G c.1671G>C p.L557F Missense 25/71 - 1
1-32154559-A-C c.1670T>G p.L557W Missense 25/71 - 1
1-32154562-C-T c.1667G>A p.C556Y Missense 25/71 - 1
1-32154567-C-A c.1662G>T p.E554D Missense 25/71 - 2
1-32154569-C-T c.1660G>A p.E554K Missense 25/71 - 1
1-32154632-G-A c.1656+19C>T - IntronicSNV - 24/70 1
1-32154650-C-A c.1656+1G>T - IntronicSNV - 24/70 3
1-32154651-C-A c.1656G>T p.K552N Missense 24/71 - 1
1-32154663-G-A c.1644C>T p.I548= Synonymous 24/71 - 1
1-32154663-G-T c.1644C>A p.I548= Synonymous 24/71 - 1
1-32154664-A-G c.1643T>C p.I548T Missense 24/71 - 2
1-32154668-C-T c.1639G>A p.G547S Missense 24/71 - 1
1-32154671-G-A c.1636C>T p.Q546* Nonsense 24/71 - 1
1-32154674-T-A c.1633A>T p.I545F Missense 24/71 - 2
1-32154676-C-G c.1631G>C p.G544A Missense 24/71 - 3
1-32154676-C-T c.1631G>A p.G544D Missense 24/71 - 1
1-32154677-C-T c.1630G>A p.G544S Missense 24/71 - 1
1-32154678-A-G c.1629T>C p.P543= Synonymous 24/71 - 1
1-32154679-G-A c.1628C>T p.P543L Missense 24/71 - 1
1-32154681-G-A c.1626C>T p.D542= Synonymous 24/71 - 1
1-32154683-C-T c.1624G>A p.D542N Missense 24/71 - 1
1-32154685-C-G c.1622G>C p.G541A Missense 24/71 - 1
1-32155284-T-A c.1620+58A>T - IntronicSNV - 23/70 3
1-32155284-T-C c.1620+58A>G - IntronicSNV - 23/70 5
1-32155341-C-T c.1620+1G>A - IntronicSNV - 23/70 1
1-32155342-C-A c.1620G>T p.R540S Missense 23/71 - 3
1-32155342-C-G c.1620G>C p.R540S Missense 23/71 - 2
1-32155345-G-T c.1617C>A p.A539= Synonymous 23/71 - 1
1-32155347-C-A c.1615G>T p.A539S Missense 23/71 - 1
1-32155352-A-T c.1610T>A p.V537E Missense 23/71 - 1
1-32155354-A-C c.1608T>G p.P536= Synonymous 23/71 - 1
1-32155354-A-G c.1608T>C p.P536= Synonymous 23/71 - 1
1-32155354-A-T c.1608T>A p.P536= Synonymous 23/71 - 1
1-32155357-AT-GA c.1604_1605delinsTC p.D535V Missense 23/71 - 1
1-32155359-C-T c.1603G>A p.D535N Missense 23/71 - 1
1-32155361-C-T c.1601G>A p.G534D Missense 23/71 - 1
1-32155367-T-A c.1595A>T p.E532V Missense 23/71 - 1
1-32155367-T-C c.1595A>G p.E532G Missense 23/71 - 1
1-32155376-G-A c.1586C>T p.P529L Missense 23/71 - 2
1-32155376-G-GT c.1585_1586insA p.P529Hfs*7 Frameshift 23/71 - 1
1-32155379-C-T c.1583G>A p.G528E Missense 23/71 - 1
1-32155382-G-A c.1580C>T p.P527L Missense 23/71 - 1
1-32155388-C-T c.1574G>A p.G525E Missense 23/71 - 1
1-32155389-C-G c.1573G>C p.G525R Missense 23/71 - 1
1-32155389-C-T c.1573G>A p.G525R Missense 23/71 - 1
1-32155392-G-C c.1570C>G p.P524A Missense 23/71 - 1
1-32155397-C-T c.1565G>A p.G522E Missense 23/71 - 1
1-32155398-C-T c.1564G>A p.G522R Missense 23/71 - 4
1-32155405-G-C c.1557C>G p.N519K Missense 23/71 - 1
1-32155405-G-T c.1557C>A p.N519K Missense 23/71 - 1
1-32155407-T-A c.1555A>T p.N519Y Missense 23/71 - 1
1-32155414-CC-GT c.1547_1548delinsAC p.G516D Missense 23/71 - 1
1-32155416-C-G c.1546G>C p.G516R Missense 23/71 - 1
1-32155416-C-T c.1546G>A p.G516R Missense 23/71 - 1
1-32155418-T-G c.1544A>C p.E515A Missense 23/71 - 4
1-32155421-G-A c.1541C>T p.P514L Missense 23/71 - 1
1-32155421-G-T c.1541C>A p.P514H Missense 23/71 - 1
1-32155423-C-A c.1539G>T p.L513= Synonymous 23/71 - 1
1-32155425-G-A c.1537C>T p.L513= Synonymous 23/71 - 1
1-32155432-G-A c.1530C>T p.C510= Synonymous 23/71 - 1
1-32155435-C-A c.1527G>T p.V509= Synonymous 23/71 - 1
1-32155435-C-G c.1527G>C p.V509= Synonymous 23/71 - 1
1-32155435-C-T c.1527G>A p.V509= Synonymous 23/71 - 1
1-32155445-G-A c.1517C>T p.P506L Missense 23/71 - 1
1-32155449-C-T c.1513G>A p.D505N Missense 23/71 - 1
1-32155449-C-CA c.1512dup p.D505* Nonsense 23/71 - 2
1-32155450-CA-C c.1512del p.D505Tfs*59 Frameshift 23/71 - 1
1-32155463-G-A c.1510-11C>T - IntronicSNV - 22/70 1
1-32155472-G-A c.1510-20C>T - IntronicSNV - 22/70 3
1-32155911-G-T c.1509+57C>A - IntronicSNV - 22/70 7
1-32155929-G-A c.1509+39C>T - IntronicSNV - 22/70 8
1-32155929-G-T c.1509+39C>A - IntronicSNV - 22/70 5
1-32155972-T-A c.1505A>T p.E502V Missense 22/71 - 1
1-32155978-T-C c.1499A>G p.K500R Missense 22/71 - 1
1-32155980-C-A c.1497G>T p.V499= Synonymous 22/71 - 1
1-32155980-C-G c.1497G>C p.V499= Synonymous 22/71 - 1
1-32155980-C-T c.1497G>A p.V499= Synonymous 22/71 - 1
1-32155981-A-C c.1496T>G p.V499G Missense 22/71 - 1
1-32155983-A-C c.1494T>G p.G498= Synonymous 22/71 - 1
1-32155983-A-G c.1494T>C p.G498= Synonymous 22/71 - 1
1-32155983-A-T c.1494T>A p.G498= Synonymous 22/71 - 1
1-32155988-G-C c.1489C>G p.P497A Missense 22/71 - 1
1-32155991-T-C c.1486A>G p.K496E Missense 22/71 - 1
1-32156131-G-T c.1481C>A p.P494H Missense 21/71 - 1
1-32156140-C-T c.1472G>A p.G491D Missense 21/71 - 1
1-32156143-G-A c.1469C>T p.P490L Missense 21/71 - 2
1-32156144-G-A c.1468C>T p.P490S Missense 21/71 - 1
1-32156156-C-A c.1456G>T p.G486* Nonsense 21/71 - 1
1-32156160-G-A c.1452C>T p.I484= Synonymous 21/71 - 1
1-32156160-G-T c.1452C>A p.I484= Synonymous 21/71 - 1
1-32156163-C-A c.1449G>T p.G483= Synonymous 21/71 - 1
1-32156163-C-G c.1449G>C p.G483= Synonymous 21/71 - 1
1-32156163-C-T c.1449G>A p.G483= Synonymous 21/71 - 1
1-32156166-C-A c.1446G>T p.S482= Synonymous 21/71 - 1
1-32156166-C-G c.1446G>C p.S482= Synonymous 21/71 - 1
1-32156166-C-T c.1446G>A p.S482= Synonymous 21/71 - 1
1-32156167-G-A c.1445C>T p.S482L Missense 21/71 - 1
1-32156168-A-G c.1444T>C p.S482P Missense 21/71 - 1
1-32156174-C-G c.1438G>C p.G480R Missense 21/71 - 1
1-32156722-G-A c.1437+67C>T - IntronicSNV - 20/70 6
1-32156788-C-T c.1437+1G>A - IntronicSNV - 20/70 2
1-32156790-T-C c.1436A>G p.K479R Missense 20/71 - 1
1-32156794-C-T c.1432G>A p.D478N Missense 20/71 - 1
1-32156800-T-G c.1426A>C p.K476Q Missense 20/71 - 1
1-32156802-G-A c.1424C>T p.P475L Missense 20/71 - 2
1-32156805-C-A c.1421G>T p.G474V Missense 20/71 - 1
1-32156808-G-T c.1418C>A p.P473Q Missense 20/71 - 2
1-32156817-C-A c.1409G>T p.G470V Missense 20/71 - 1
1-32156825-C-T c.1401G>A p.G467= Synonymous 20/71 - 1
1-32156826-C-T c.1400G>A p.G467E Missense 20/71 - 1
1-32156827-C-G c.1399G>C p.G467R Missense 20/71 - 1
1-32156827-C-T c.1399G>A p.G467R Missense 20/71 - 1
1-32156869-A-T c.1399-42T>A - IntronicSNV - 19/70 8
1-32156940-C-A c.1398+78G>T - IntronicSNV - 19/70 4
1-32157007-G-A c.1398+11C>T - IntronicSNV - 19/70 1
1-32157007-G-C c.1398+11C>G - IntronicSNV - 19/70 1
1-32157007-G-T c.1398+11C>A - IntronicSNV - 19/70 1
1-32157009-G-T c.1398+9C>A - IntronicSNV - 19/70 5
1-32157018-C-A c.1398G>T p.P466= Synonymous 19/71 - 2
1-32157018-C-G c.1398G>C p.P466= Synonymous 19/71 - 2
1-32157018-C-T c.1398G>A p.P466= Synonymous 19/71 - 2
1-32157019-G-A c.1397C>T p.P466L Missense 19/71 - 2
1-32157020-G-A c.1396C>T p.P466S Missense 19/71 - 1
1-32157025-C-G c.1391G>C p.G464A Missense 19/71 - 1
1-32157025-C-T c.1391G>A p.G464E Missense 19/71 - 1
1-32157040-C-T c.1376G>A p.G459E Missense 19/71 - 1
1-32157042-A-C c.1374T>G p.P458= Synonymous 19/71 - 1
1-32157042-A-G c.1374T>C p.P458= Synonymous 19/71 - 1
1-32157042-A-T c.1374T>A p.P458= Synonymous 19/71 - 1
1-32157043-G-T c.1373C>A p.P458H Missense 19/71 - 1
1-32157045-G-A c.1371C>T p.P457= Synonymous 19/71 - 1
1-32157047-G-A c.1369C>T p.P457S Missense 19/71 - 1
1-32157048-T-A c.1368A>T p.G456= Synonymous 19/71 - 1
1-32157049-C-T c.1367G>A p.G456E Missense 19/71 - 1
1-32157053-G-A c.1363C>T p.P455S Missense 19/71 - 3
1-32157057-GC-G c.1358del p.G453Afs*8 Frameshift 19/71 - 2
1-32157059-C-G c.1357G>C p.G453R Missense 19/71 - 1
1-32157059-C-T c.1357G>A p.G453S Missense 19/71 - 2
1-32157060-G-A c.1356C>T p.P452= Synonymous 19/71 - 2
1-32157060-G-T c.1356C>A p.P452= Synonymous 19/71 - 3
1-32157064-G-A c.1352C>T p.P451L Missense 19/71 - 1
1-32157059-C-CG c.1356dup p.G453Rfs*53 Frameshift 19/71 - 2
1-32157059-CG-C c.1356del p.G453Afs*8 Frameshift 19/71 - 1
1-32157065-G-C c.1351C>G p.P451A Missense 19/71 - 1
1-32157070-G-A c.1346C>T p.P449L Missense 19/71 - 1
1-32157074-C-T c.1342G>A p.E448K Missense 19/71 - 1
1-32157079-G-A c.1337C>T p.A446V Missense 19/71 - 1
1-32157079-G-C c.1337C>G p.A446G Missense 19/71 - 1
1-32157084-CCC-ACA c.1330_1332delinsTGT p.G444C Missense 19/71 - 1
1-32157089-C-G c.1327G>C p.E443Q Missense 19/71 - 2
1-32157092-G-A c.1324C>T p.P442S Missense 19/71 - 1
1-32157093-C-T c.1323G>A p.G441= Synonymous 19/71 - 1
1-32157096-AAC-CAT c.1318_1320delinsATG p.V440M Missense 19/71 - 2
1-32157104-C-T c.1312G>A p.G438S Missense 19/71 - 1
1-32157107-G-A c.1309C>T p.P437S Missense 19/71 - 3
1-32157113-C-T c.1303G>A p.G435R Missense 19/71 - 4
1-32157199-C-A c.1302G>T p.K434N Missense 18/71 - 1
1-32157199-C-G c.1302G>C p.K434N Missense 18/71 - 1
1-32157199-C-T c.1302G>A p.K434= Synonymous 18/71 - 1
1-32157212-G-A c.1289C>T p.P430L Missense 18/71 - 1
1-32157213-G-T c.1288C>A p.P430T Missense 18/71 - 1
1-32157214-C-A c.1287G>T p.G429= Synonymous 18/71 - 1
1-32157214-C-G c.1287G>C p.G429= Synonymous 18/71 - 1
1-32157214-C-T c.1287G>A p.G429= Synonymous 18/71 - 2
1-32157216-C-G c.1285G>C p.G429R Missense 18/71 - 1
1-32157216-C-T c.1285G>A p.G429R Missense 18/71 - 1
1-32157220-G-A c.1281C>T p.V427= Synonymous 18/71 - 1
1-32157220-G-C c.1281C>G p.V427= Synonymous 18/71 - 1
1-32157220-G-T c.1281C>A p.V427= Synonymous 18/71 - 1
1-32157226-G-T c.1275C>A p.I425= Synonymous 18/71 - 2
1-32157228-T-A c.1273A>T p.I425F Missense 18/71 - 1
1-32157232-T-C c.1269A>G p.G423= Synonymous 18/71 - 1
1-32157239-CG-TA c.1261_1262delinsTA p.R421* Nonsense 18/71 - 1
1-32157239-C-T c.1262G>A p.R421Q Missense 18/71 - 2
1-32157240-G-A c.1261C>T p.R421W Missense 18/71 - 1
1-32157239-CG-C c.1261del p.R421Gfs*40 Frameshift 18/71 - 1
1-32157241-G-A c.1260C>T p.G420= Synonymous 18/71 - 1
1-32157242-C-T c.1259G>A p.G420D Missense 18/71 - 3
1-32157248-G-A c.1258-5C>T - IntronicSNV - 17/70 1
1-32157248-G-C c.1258-5C>G - IntronicSNV - 17/70 1
1-32157248-G-T c.1258-5C>A - IntronicSNV - 17/70 1
1-32157531-T-C c.1257+75A>G - IntronicSNV - 17/70 6
1-32157596-A-G c.1257+10T>C - IntronicSNV - 17/70 1
1-32157604-A-G c.1257+2T>C - IntronicSNV - 17/70 1
1-32157605-C-T c.1257+1G>A - IntronicSNV - 17/70 2
1-32157608-C-G c.1255G>C p.D419H Missense 17/71 - 1
1-32157610-C-G c.1253G>C p.R418P Missense 17/71 - 1
1-32157610-C-T c.1253G>A p.R418Q Missense 17/71 - 3
1-32157616-G-T c.1247C>A p.P416Q Missense 17/71 - 1
1-32157618-C-G c.1245G>C p.K415N Missense 17/71 - 1
1-32157622-C-T c.1241G>A p.G414E Missense 17/71 - 1
1-32157624-C-A c.1239G>T p.P413= Synonymous 17/71 - 2
1-32157624-C-G c.1239G>C p.P413= Synonymous 17/71 - 1
1-32157624-C-T c.1239G>A p.P413= Synonymous 17/71 - 1
1-32157625-G-A c.1238C>T p.P413L Missense 17/71 - 2
1-32157629-C-T c.1234G>A p.V412M Missense 17/71 - 1
1-32157630-G-A c.1233C>T p.G411= Synonymous 17/71 - 1
1-32157630-G-C c.1233C>G p.G411= Synonymous 17/71 - 1
1-32157630-G-T c.1233C>A p.G411= Synonymous 17/71 - 1
1-32157631-C-T c.1232G>A p.G411D Missense 17/71 - 1
1-32157632-C-A c.1231G>T p.G411C Missense 17/71 - 1
1-32157632-C-T c.1231G>A p.G411S Missense 17/71 - 1
1-32157635-T-G c.1228A>C p.K410Q Missense 17/71 - 2
1-32157638-T-G c.1225A>C p.I409L Missense 17/71 - 1
1-32157641-C-A c.1222G>T p.G408C Missense 17/71 - 1
1-32157644-C-G c.1219G>C p.G407R Missense 17/71 - 3
1-32157644-C-T c.1219G>A p.G407R Missense 17/71 - 3
1-32157645-G-C c.1218C>G p.D406E Missense 17/71 - 1
1-32157645-G-T c.1218C>A p.D406E Missense 17/71 - 1
1-32157647-C-T c.1216G>A p.D406N Missense 17/71 - 1
1-32157651-C-A c.1212G>T p.K404N Missense 17/71 - 1
1-32157656-C-T c.1207G>A p.E403K Missense 17/71 - 1
1-32157657-G-A c.1206C>T p.G402= Synonymous 17/71 - 2
1-32157657-G-C c.1206C>G p.G402= Synonymous 17/71 - 1
1-32157657-G-T c.1206C>A p.G402= Synonymous 17/71 - 1
1-32157659-C-G c.1204G>C p.G402R Missense 17/71 - 1
1-32157661-T-C c.1202A>G p.K401R Missense 17/71 - 3
1-32157664-CT-C c.1199del p.Q400Rfs*61 Frameshift 17/71 - 1
1-32157906-A-G c.1194+169T>C - IntronicSNV - 16/70 1
1-32158076-T-C c.1193A>G p.K398R Missense 16/71 - 9
1-32158080-C-T c.1189G>A p.E397K Missense 16/71 - 1
1-32158081-G-A c.1188C>T p.G396= Synonymous 16/71 - 1
1-32158095-G-A c.1174C>T p.P392S Missense 16/71 - 1
1-32158101-C-A c.1168G>T p.G390* Nonsense 16/71 - 1
1-32158107-G-A c.1162C>T p.P388S Missense 16/71 - 2
1-32158205-TC-GT c.1151_1152delinsAC p.G384D Missense 15/71 - 1
1-32158213-C-T c.1144G>A p.E382K Missense 15/71 - 1
1-32158212-TC-T c.1144del p.E382Sfs*79 Frameshift 15/71 - 1
1-32158222-C-A c.1135G>T p.E379* Nonsense 15/71 - 1
1-32158222-C-T c.1135G>A p.E379K Missense 15/71 - 1
1-32158223-T-A c.1134A>T p.G378= Synonymous 15/71 - 1
1-32158223-T-C c.1134A>G p.G378= Synonymous 15/71 - 1
1-32158223-T-G c.1134A>C p.G378= Synonymous 15/71 - 1
1-32158224-C-T c.1133G>A p.G378E Missense 15/71 - 1
1-32158228-T-C c.1129A>G p.K377E Missense 15/71 - 1
1-32158230-G-A c.1127C>T p.P376L Missense 15/71 - 2
1-32158235-T-A c.1122A>T p.E374D Missense 15/71 - 1
1-32158235-T-G c.1122A>C p.E374D Missense 15/71 - 1
1-32158237-C-A c.1120G>T p.E374* Nonsense 15/71 - 1
1-32158237-C-G c.1120G>C p.E374Q Missense 15/71 - 1
1-32158239-G-T c.1118C>A p.A373E Missense 15/71 - 1
1-32158304-A-G c.1114-61T>C - IntronicSNV - 14/70 5
1-32158341-G-A c.1113+27C>T - IntronicSNV - 14/70 1
1-32158363-C-T c.1113+5G>A - IntronicSNV - 14/70 1
1-32158374-T-C c.1107A>G p.P369= Synonymous 14/71 - 17
1-32158384-G-A c.1097C>T p.P366L Missense 14/71 - 1
1-32158387-GA-TT c.1093_1094delinsAA p.S365N Missense 14/71 - 1
1-32158391-T-C c.1090A>G p.I364V Missense 14/71 - 1
1-32158393-C-A c.1088G>T p.R363L Missense 14/71 - 2
1-32158393-C-T c.1088G>A p.R363Q Missense 14/71 - 1
1-32158394-G-A c.1087C>T p.R363* Nonsense 14/71 - 3
1-32158396-A-G c.1085T>C p.V362A Missense 14/71 - 1
1-32158398-A-G c.1083T>C p.C361= Synonymous 14/71 - 1
1-32158399-C-T c.1082G>A p.C361Y Missense 14/71 - 1
1-32158400-A-C c.1081T>G p.C361G Missense 14/71 - 1
1-32158408-C-T c.1073G>A p.G358D Missense 14/71 - 1
1-32158409-C-T c.1072G>A p.G358S Missense 14/71 - 1
1-32158569-C-A c.1071+124G>T - IntronicSNV - 13/70 1
1-32158569-CCCTCCCGTGATCTGGGCCAAGCTGCAGGCTTTCTGCCGGGATGATGGGATGATGGCTCA-C c.1071+66_1071+124del - IntronicDeletion - 13/70 1
1-32158569-C-G c.1071+124G>C - IntronicSNV - 13/70 1
1-32158569-C-T c.1071+124G>A - IntronicSNV - 13/70 1
1-32158605-C-T c.1071+88G>A - IntronicSNV - 13/70 1
1-32158701-C-G c.1063G>C p.G355R Missense 13/71 - 3
1-32158701-C-T c.1063G>A p.G355R Missense 13/71 - 4
1-32158702-C-A c.1062G>T p.K354N Missense 13/71 - 1
1-32158705-C-A c.1059G>T p.E353D Missense 13/71 - 1
1-32158705-C-G c.1059G>C p.E353D Missense 13/71 - 1
1-32158714-G-A c.1050C>T p.S350= Synonymous 13/71 - 1
1-32158714-G-C c.1050C>G p.S350= Synonymous 13/71 - 1
1-32158714-G-T c.1050C>A p.S350= Synonymous 13/71 - 1
1-32158715-G-A c.1049C>T p.S350F Missense 13/71 - 4
1-32158715-GA-AG c.1048_1049delinsCT p.S350L Missense 13/71 - 1
1-32158722-G-A c.1042C>T p.P348S Missense 13/71 - 1
1-32158724-G-A c.1040C>T p.P347L Missense 13/71 - 2
1-32158725-G-T c.1039C>A p.P347T Missense 13/71 - 1
1-32158736-C-A c.1028G>T p.G343V Missense 13/71 - 1
1-32158739-C-T c.1025G>A p.R342Q Missense 13/71 - 1
1-32158742-T-A c.1022A>T p.E341V Missense 13/71 - 2
1-32158743-C-T c.1021G>A p.E341K Missense 13/71 - 1
1-32158753-T-C c.1011A>G p.G337= Synonymous 13/71 - 1
1-32158858-C-T c.1009-103G>A - IntronicSNV - 12/70 1
1-32159574-T-C c.1008+171A>G - IntronicSNV - 12/70 1
1-32159588-A-C c.1008+157T>G - IntronicSNV - 12/70 7
1-32159607-C-T c.1008+138G>A - IntronicSNV - 12/70 1
1-32159755-G-GTT c.997_998insAA p.S333* Nonsense 12/71 - 1
1-32159755-G-T c.998C>A p.S333Y Missense 12/71 - 1
1-32159756-A-ATG c.996_997insCA p.S333Hfs*129 Frameshift 12/71 - 1
1-32159756-A-AGT c.996_997insAC p.S333Tfs*129 Frameshift 12/71 - 1
1-32159762-C-A c.991G>T p.A331S Missense 12/71 - 1
1-32159767-G-A c.986C>T p.T329I Missense 12/71 - 2
1-32159768-T-C c.985A>G p.T329A Missense 12/71 - 1
1-32159770-A-T c.983T>A p.V328D Missense 12/71 - 1
1-32160781-A-C c.981+6T>G - IntronicSNV - 11/70 1
1-32160794-T-G c.974A>C p.D325A Missense 11/71 - 1
1-32160795-C-A c.973G>T p.D325Y Missense 11/71 - 1
1-32160797-C-T c.971G>A p.R324Q Missense 11/71 - 2
1-32160801-C-A c.967G>T p.A323S Missense 11/71 - 1
1-32160802-ACC-TCA c.964_966delinsTGA p.G322* Nonsense 11/71 - 1
1-32160810-C-A c.958G>T p.V320F Missense 11/71 - 3
1-32160814-G-C c.954C>G p.P318= Synonymous 11/71 - 1
1-32160815-G-A c.953C>T p.P318L Missense 11/71 - 1
1-32160817-C-T c.951G>A p.P317= Synonymous 11/71 - 1
1-32160818-G-A c.950C>T p.P317L Missense 11/71 - 4
1-32160918-A-G c.946-96T>C - IntronicSNV - 10/70 7
1-32161282-G-A c.945+80C>T - IntronicSNV - 10/70 1
1-32161362-C-T c.945G>A p.E315= Synonymous 10/71 - 1
1-32161363-T-A c.944A>T p.E315V Missense 10/71 - 2
1-32161374-T-A c.933A>T p.T311= Synonymous 10/71 - 1
1-32161374-T-C c.933A>G p.T311= Synonymous 10/71 - 1
1-32161374-T-G c.933A>C p.T311= Synonymous 10/71 - 1
1-32161381-T-A c.926A>T p.Q309L Missense 10/71 - 1
1-32161382-G-T c.925C>A p.Q309K Missense 10/71 - 1
1-32161385-G-A c.922C>T p.H308Y Missense 10/71 - 1
1-32161386-G-A c.921C>T p.V307= Synonymous 10/71 - 1
1-32161423-G-A c.919-35C>T - IntronicSNV - 9/70 1
1-32161594-G-T c.918+95C>A - IntronicSNV - 9/70 1
1-32161690-T-A c.917A>T p.K306M Missense 9/71 - 1
1-32161691-T-A c.916A>T p.K306* Nonsense 9/71 - 1
1-32161694-C-T c.913G>A p.A305T Missense 9/71 - 1
1-32161697-C-G c.910G>C p.G304R Missense 9/71 - 1
1-32161697-C-T c.910G>A p.G304R Missense 9/71 - 1
1-32161698-C-A c.909G>T p.R303S Missense 9/71 - 1
1-32161698-C-T c.909G>A p.R303= Synonymous 9/71 - 1
1-32161700-T-G c.907A>C p.R303= Synonymous 9/71 - 1
1-32161714-CT-AA c.892_893delinsTT p.S298F Missense 9/71 - 1
1-32161716-G-C c.891C>G p.I297M Missense 9/71 - 1
1-32161725-C-A c.882G>T p.T294= Synonymous 9/71 - 1
1-32161725-C-G c.882G>C p.T294= Synonymous 9/71 - 1
1-32161725-C-T c.882G>A p.T294= Synonymous 9/71 - 1
1-32161726-G-A c.881C>T p.T294M Missense 9/71 - 3
1-32161728-C-A c.879G>T p.L293= Synonymous 9/71 - 1
1-32161728-C-G c.879G>C p.L293= Synonymous 9/71 - 1
1-32161728-C-T c.879G>A p.L293= Synonymous 9/71 - 1
1-32161730-G-A c.877C>T p.L293= Synonymous 9/71 - 1
1-32161731-C-T c.876G>A p.Q292= Synonymous 9/71 - 1
1-32161752-C-T c.865-10G>A - IntronicSNV - 8/70 3
1-32162388-T-C c.864+176A>G - IntronicSNV - 8/70 1
1-32162563-C-T c.864+1G>A - IntronicSNV - 8/70 1
1-32162566-C-T c.862G>A p.E288K Missense 8/71 - 4
1-32162567-G-A c.861C>T p.S287= Synonymous 8/71 - 3
1-32162579-C-A c.849G>T p.E283D Missense 8/71 - 1
1-32162579-C-G c.849G>C p.E283D Missense 8/71 - 1
1-32162582-C-T c.846G>A p.E282= Synonymous 8/71 - 1
1-32162591-G-T c.837C>A p.F279L Missense 8/71 - 1
1-32162592-A-T c.836T>A p.F279Y Missense 8/71 - 1
1-32162593-A-T c.835T>A p.F279I Missense 8/71 - 2
1-32162595-C-T c.833G>A p.C278Y Missense 8/71 - 1
1-32162598-C-A c.830G>T p.R277L Missense 8/71 - 1
1-32162598-C-T c.830G>A p.R277H Missense 8/71 - 1
1-32162599-G-A c.829C>T p.R277C Missense 8/71 - 1
1-32162599-G-T c.829C>A p.R277S Missense 8/71 - 2
1-32162610-T-G c.818A>C p.K273T Missense 8/71 - 1
1-32162614-C-T c.814G>A p.G272S Missense 8/71 - 1
1-32162621-C-T c.807G>A p.Q269= Synonymous 8/71 - 1
1-32162639-G-A c.789C>T p.L263= Synonymous 8/71 - 1
1-32162639-G-C c.789C>G p.L263= Synonymous 8/71 - 1
1-32162639-G-T c.789C>A p.L263= Synonymous 8/71 - 1
1-32162639-TG-T c.789del p.I264Lfs*30 Frameshift 8/71 - 1
1-32162642-C-A c.786G>T p.E262D Missense 8/71 - 1
1-32162642-C-G c.786G>C p.E262D Missense 8/71 - 1
1-32162648-G-A c.780C>T p.S260= Synonymous 8/71 - 1
1-32162651-C-A c.777G>T p.Q259H Missense 8/71 - 1
1-32162651-C-G c.777G>C p.Q259H Missense 8/71 - 2
1-32162654-G-A c.774C>T p.T258= Synonymous 8/71 - 1
1-32162654-G-C c.774C>G p.T258= Synonymous 8/71 - 1
1-32162654-G-T c.774C>A p.T258= Synonymous 8/71 - 1
1-32162657-G-C c.771C>G p.D257E Missense 8/71 - 1
1-32162657-G-T c.771C>A p.D257E Missense 8/71 - 1
1-32162664-C-A c.764G>T p.R255L Missense 8/71 - 1
1-32162664-C-T c.764G>A p.R255H Missense 8/71 - 1
1-32162665-G-A c.763C>T p.R255C Missense 8/71 - 1
1-32162668-C-A c.760G>T p.A254S Missense 8/71 - 2
1-32162672-G-A c.756C>T p.S252= Synonymous 8/71 - 1
1-32162672-G-C c.756C>G p.S252= Synonymous 8/71 - 1
1-32162672-G-T c.756C>A p.S252= Synonymous 8/71 - 1
1-32162677-T-C c.751A>G p.T251A Missense 8/71 - 2
1-32162680-C-CT c.747dup p.E250Rfs*13 Frameshift 8/71 - 2
1-32162681-T-TG c.746dup p.E250Rfs*13 SpliceAcceptorInsertion 8/71 - 1
1-32162689-A-C c.739T>G p.C247G Missense 8/71 - 8
1-32162785-T-TG c.738+35dup - IntronicInsertion - 7/70 1
1-32162810-G-A c.738+11C>T - IntronicSNV - 7/70 1
1-32162828-G-A c.731C>T p.P244L Missense 7/71 - 1
1-32162829-G-T c.730C>A p.P244T Missense 7/71 - 1
1-32162838-C-G c.721G>C p.E241Q Missense 7/71 - 1
1-32162839-A-C c.720T>G p.C240W Missense 7/71 - 1
1-32162839-A-G c.720T>C p.C240= Synonymous 7/71 - 1
1-32162847-C-G c.712G>C p.G238R Missense 7/71 - 1
1-32162848-C-A c.711G>T p.E237D Missense 7/71 - 1
1-32162848-C-G c.711G>C p.E237D Missense 7/71 - 1
1-32162846-CCCT-C c.710_712del p.E237del InFrameDeletion 7/71 - 1
1-32162852-T-C c.707A>G p.E236G Missense 7/71 - 3
1-32162853-C-T c.706G>A p.E236K Missense 7/71 - 1
1-32162867-G-A c.692C>T p.P231L Missense 7/71 - 4
1-32162873-CA-GT c.685_686delinsAC p.C229T Missense 7/71 - 1
1-32162874-A-C c.685T>G p.C229G Missense 7/71 - 7
1-32162879-A-T c.680T>A p.I227N Missense 7/71 - 1
1-32162897-T-C c.662A>G p.D221G Missense 7/71 - 1
1-32162900-A-C c.659T>G p.F220C Missense 7/71 - 1
1-32163508-G-A c.656C>T p.S219L Missense 6/71 - 2
1-32163510-G-C c.654C>G p.V218= Synonymous 6/71 - 2
1-32163512-C-T c.652G>A p.V218I Missense 6/71 - 1
1-32163519-G-A c.645C>T p.G215= Synonymous 6/71 - 1
1-32163525-C-T c.639G>A p.E213= Synonymous 6/71 - 1
1-32163528-A-T c.636T>A p.A212= Synonymous 6/71 - 1
1-32163529-G-A c.635C>T p.A212V Missense 6/71 - 1
1-32163533-C-T c.631G>A p.D211N Missense 6/71 - 1
1-32163539-C-T c.625G>A p.G209S Missense 6/71 - 1
1-32163542-G-A c.622C>T p.L208= Synonymous 6/71 - 3
1-32163554-C-T c.610G>A p.G204S Missense 6/71 - 2
1-32163561-C-A c.603G>T p.R201S Missense 6/71 - 4
1-32163561-C-G c.603G>C p.R201S Missense 6/71 - 1
1-32163563-T-C c.601A>G p.R201G Missense 6/71 - 1
1-32163574-C-T c.590G>A p.R197Q Missense 6/71 - 2
1-32163575-G-A c.589C>T p.R197* Nonsense 6/71 - 5
1-32163576-G-A c.588C>T p.P196= Synonymous 6/71 - 1
1-32163576-G-C c.588C>G p.P196= Synonymous 6/71 - 1
1-32163576-G-T c.588C>A p.P196= Synonymous 6/71 - 1
1-32163578-G-A c.586C>T p.P196S Missense 6/71 - 3
1-32163584-G-A c.580C>T p.L194= Synonymous 6/71 - 2
1-32163584-G-T c.580C>A p.L194M Missense 6/71 - 2
1-32163586-G-T c.578C>A p.P193H Missense 6/71 - 1
1-32163587-G-T c.577C>A p.P193T Missense 6/71 - 1
1-32163590-G-A c.574C>T p.Q192* Nonsense 6/71 - 1
1-32163589-T-TG c.574dup p.Q192Pfs*22 Frameshift 6/71 - 1
1-32163595-G-A c.569C>T p.S190F Missense 6/71 - 1
1-32163599-C-T c.565G>A p.A189T Missense 6/71 - 1
1-32163603-G-A c.561C>T p.S187= Synonymous 6/71 - 1
1-32163604-C-T c.560G>A p.S187N Missense 6/71 - 2
1-32163610-T-A c.554A>T p.D185V Missense 6/71 - 1
1-32163612-C-T c.552G>A p.V184= Synonymous 6/71 - 2
1-32163615-G-A c.549C>T p.H183= Synonymous 6/71 - 1
1-32163622-G-A c.542C>T p.S181F Missense 6/71 - 1
1-32163632-G-A c.532C>T p.R178C Missense 6/71 - 2
1-32163640-A-C c.524T>G p.V175G Missense 6/71 - 1
1-32163643-C-A c.521G>T p.S174I Missense 6/71 - 1
1-32163646-A-G c.518T>C p.L173P Missense 6/71 - 1
1-32163647-G-T c.517C>A p.L173M Missense 6/71 - 2
1-32163648-C-A c.516G>T p.M172I Missense 6/71 - 1
1-32163648-C-G c.516G>C p.M172I Missense 6/71 - 1
1-32163648-C-T c.516G>A p.M172I Missense 6/71 - 2
1-32163657-G-C c.507C>G p.H169Q Missense 6/71 - 1
1-32163657-G-T c.507C>A p.H169Q Missense 6/71 - 1
1-32163660-C-T c.504G>A p.W168* Nonsense 6/71 - 4
1-32163661-C-T c.503G>A p.W168* Nonsense 6/71 - 3
1-32163664-C-T c.500G>A p.R167H Missense 6/71 - 2
1-32163665-G-A c.499C>T p.R167C Missense 6/71 - 2
1-32163665-G-T c.499C>A p.R167S Missense 6/71 - 3
1-32163669-G-C c.495C>G p.D165E Missense 6/71 - 1
1-32163669-G-T c.495C>A p.D165E Missense 6/71 - 1
1-32163671-C-G c.493G>C p.D165H Missense 6/71 - 2
1-32163671-C-T c.493G>A p.D165N Missense 6/71 - 1
1-32163672-CG-C c.492del p.F164Lfs*8 Frameshift 6/71 - 1
1-32163672-G-A c.492C>T p.F164= Synonymous 6/71 - 2
1-32163675-G-A c.489C>T p.L163= Synonymous 6/71 - 1
1-32163678-C-T c.486G>A p.Q162= Synonymous 6/71 - 1
1-32163681-G-A c.483C>T p.P161= Synonymous 6/71 - 1
1-32163681-G-C c.483C>G p.P161= Synonymous 6/71 - 1
1-32163681-G-T c.483C>A p.P161= Synonymous 6/71 - 1
1-32163691-A-G c.473T>C p.F158S Missense 6/71 - 1
1-32163695-T-A c.469A>T p.I157F Missense 6/71 - 1
1-32163704-C-A c.460G>T p.V154L Missense 6/71 - 1
1-32163704-C-G c.460G>C p.V154L Missense 6/71 - 1
1-32163710-C-T c.454G>A p.D152N Missense 6/71 - 4
1-32163712-C-A c.452G>T p.G151V Missense 6/71 - 1
1-32163712-C-T c.452G>A p.G151D Missense 6/71 - 1
1-32163713-C-T c.451G>A p.G151S Missense 6/71 - 1
1-32163715-T-C c.449A>G p.D150G Missense 6/71 - 1
1-32163728-C-T c.436G>A p.A146T Missense 6/71 - 1
1-32163729-C-A c.435G>T p.R145S Missense 6/71 - 1
1-32163729-C-T c.435G>A p.R145= Synonymous 6/71 - 2
1-32163731-T-G c.433A>C p.R145= Synonymous 6/71 - 1
1-32163734-G-C c.430C>G p.L144V Missense 6/71 - 1
1-32163745-C-A c.419G>T p.R140L Missense 6/71 - 1
1-32163745-C-T c.419G>A p.R140Q Missense 6/71 - 2
1-32163746-G-A c.418C>T p.R140W Missense 6/71 - 1
1-32163749-C-T c.415G>A p.E139K Missense 6/71 - 1
1-32163752-G-A c.412C>T p.Q138* Nonsense 6/71 - 1
1-32163753-GCT-TCA c.409_411delinsTGA p.S137* Nonsense 6/71 - 1
1-32163754-C-T c.410G>A p.S137N Missense 6/71 - 2
1-32163769-G-A c.395C>T p.S132F Missense 6/71 - 1
1-32163950-G-C c.390+134C>G - IntronicSNV - 5/70 7
1-32163950-G-T c.390+134C>A - IntronicSNV - 5/70 6
1-32163951-G-T c.390+133C>A - IntronicSNV - 5/70 1
1-32163975-C-A c.390+109G>T - IntronicSNV - 5/70 1
1-32164086-G-C c.388C>G p.Q130E Missense 5/71 - 1
1-32164094-C-G c.380G>C p.G127A Missense 5/71 - 1
1-32164094-C-T c.380G>A p.G127E Missense 5/71 - 1
1-32164113-G-A c.361C>T p.Q121* Nonsense 5/71 - 1
1-32164122-A-G c.352T>C p.Y118H Missense 5/71 - 1
1-32164126-C-A c.348G>T p.T116= Synonymous 5/71 - 1
1-32164126-C-G c.348G>C p.T116= Synonymous 5/71 - 1
1-32164126-C-T c.348G>A p.T116= Synonymous 5/71 - 1
1-32164132-C-A c.342G>T p.Q114H Missense 5/71 - 1
1-32164132-C-T c.342G>A p.Q114= Synonymous 5/71 - 1
1-32164137-G-A c.337C>T p.H113Y Missense 5/71 - 1
1-32164168-C-A c.306G>T p.L102= Synonymous 5/71 - 1
1-32164168-C-G c.306G>C p.L102= Synonymous 5/71 - 1
1-32164168-C-T c.306G>A p.L102= Synonymous 5/71 - 1
1-32164170-G-A c.304C>T p.L102= Synonymous 5/71 - 1
1-32164169-A-G c.305T>C p.L102P Missense 5/71 - 1
1-32164172-G-A c.302C>T p.A101V Missense 5/71 - 4
1-32164174-A-G c.300T>C p.F100= Synonymous 5/71 - 1
1-32164175-A-T c.299T>A p.F100Y Missense 5/71 - 1
1-32164179-C-T c.295G>A p.E99K Missense 5/71 - 1
1-32164182-C-T c.292G>A p.E98K Missense 5/71 - 1
1-32164183-C-T c.291G>A p.P97= Synonymous 5/71 - 1
1-32164184-G-A c.290C>T p.P97L Missense 5/71 - 1
1-32164188-G-A c.286C>T p.L96F Missense 5/71 - 4
1-32164190-C-A c.284G>T p.G95V Missense 5/71 - 2
1-32164190-CC-GT c.283_284delinsAC p.G95T Missense 5/71 - 1
1-32164191-C-G c.283G>C p.G95R Missense 5/71 - 1
1-32164193-C-A c.281G>T p.R94L Missense 5/71 - 1
1-32164196-G-C c.278C>G p.P93R Missense 5/71 - 1
1-32164196-G-T c.278C>A p.P93H Missense 5/71 - 1
1-32164197-G-A c.277C>T p.P93S Missense 5/71 - 4
1-32164197-G-C c.277C>G p.P93A Missense 5/71 - 1
1-32164197-G-T c.277C>A p.P93T Missense 5/71 - 1
1-32164198-G-A c.276C>T p.F92= Synonymous 5/71 - 1
1-32164204-T-C c.270A>G p.R90= Synonymous 5/71 - 1
1-32164205-C-A c.269G>T p.R90I Missense 5/71 - 1
1-32164205-C-T c.269G>A p.R90K Missense 5/71 - 1
1-32164206-T-A c.268A>T p.R90* Nonsense 5/71 - 2
1-32164206-T-C c.268A>G p.R90G Missense 5/71 - 2
1-32164206-T-G c.268A>C p.R90= Synonymous 5/71 - 21
1-32165093-G-A c.266+321C>T - IntronicSNV - 4/70 1
1-32165093-G-T c.266+321C>A - IntronicSNV - 4/70 1
1-32165375-G-A c.266+39C>T - IntronicSNV - 4/70 1
1-32165415-G-A c.265C>T p.R89* Nonsense 4/71 - 2
1-32165416-C-T c.264G>A p.T88= Synonymous 4/71 - 2
1-32165417-G-A c.263C>T p.T88M Missense 4/71 - 4
1-32165420-G-A c.260C>T p.P87L Missense 4/71 - 1
1-32165426-G-T c.254C>A p.T85N Missense 4/71 - 3
1-32165427-T-C c.253A>G p.T85A Missense 4/71 - 1
1-32165428-C-A c.252G>T p.V84= Synonymous 4/71 - 1
1-32165428-C-G c.252G>C p.V84= Synonymous 4/71 - 1
1-32165428-C-T c.252G>A p.V84= Synonymous 4/71 - 1
1-32165431-G-A c.249C>T p.P83= Synonymous 4/71 - 2
1-32165431-G-C c.249C>G p.P83= Synonymous 4/71 - 2
1-32165431-G-T c.249C>A p.P83= Synonymous 4/71 - 2
1-32165433-G-A c.247C>T p.P83S Missense 4/71 - 1
1-32165436-C-G c.244G>C p.A82P Missense 4/71 - 1
1-32165436-C-T c.244G>A p.A82T Missense 4/71 - 3
1-32165437-C-T c.243G>A p.A81= Synonymous 4/71 - 1
1-32165438-G-A c.242C>T p.A81V Missense 4/71 - 1
1-32165441-C-T c.239G>A p.G80E Missense 4/71 - 2
1-32165442-C-A c.238G>T p.G80W Missense 4/71 - 1
1-32165442-C-G c.238G>C p.G80R Missense 4/71 - 2
1-32165443-C-A c.237G>T p.L79= Synonymous 4/71 - 1
1-32165443-C-G c.237G>C p.L79= Synonymous 4/71 - 1
1-32165443-C-T c.237G>A p.L79= Synonymous 4/71 - 1
1-32165445-G-A c.235C>T p.L79= Synonymous 4/71 - 1
1-32165446-G-A c.234C>T p.R78= Synonymous 4/71 - 1
1-32165447-C-T c.233G>A p.R78H Missense 4/71 - 2
1-32165448-G-A c.232C>T p.R78C Missense 4/71 - 2
1-32165448-G-GC c.231dup p.R78Afs*136 Frameshift 4/71 - 1
1-32165455-GAG-CAT c.223_225delinsATG p.L75M Missense 4/71 - 1
1-32165459-G-A c.221C>T p.P74L Missense 4/71 - 1
1-32165463-C-A c.217G>T p.G73W Missense 4/71 - 1
1-32165463-C-G c.217G>C p.G73R Missense 4/71 - 1
1-32165463-C-T c.217G>A p.G73R Missense 4/71 - 2
1-32165466-T-A c.214A>T p.K72* Nonsense 4/71 - 1
1-32165469-G-A c.211C>T p.P71S Missense 4/71 - 1
1-32165474-C-T c.206G>A p.R69H Missense 4/71 - 1
1-32165475-G-A c.205C>T p.R69C Missense 4/71 - 1
1-32165480-T-G c.200A>C p.K67T Missense 4/71 - 1
1-32165484-T-C c.196A>G p.K66E Missense 4/71 - 1
1-32165490-C-T c.190G>A p.A64T Missense 4/71 - 1
1-32165494-C-A c.186G>T p.T62= Synonymous 4/71 - 2
1-32165494-C-G c.186G>C p.T62= Synonymous 4/71 - 2
1-32165494-C-T c.186G>A p.T62= Synonymous 4/71 - 2
1-32165495-G-A c.185C>T p.T62M Missense 4/71 - 6
1-32165495-G-T c.185C>A p.T62K Missense 4/71 - 38
1-32165498-T-C c.182A>G p.K61R Missense 4/71 - 1
1-32165502-T-C c.178A>G p.M60V Missense 4/71 - 1
1-32165505-G-A c.175C>T p.L59F Missense 4/71 - 1
1-32165508-T-A c.172A>T p.S58C Missense 4/71 - 1
1-32165511-G-T c.169C>A p.L57I Missense 4/71 - 1
1-32165514-G-A c.166C>T p.R56* Nonsense 4/71 - 1
1-32165517-G-A c.163C>T p.H55Y Missense 4/71 - 1
1-32165518-G-A c.162C>T p.I54= Synonymous 4/71 - 1
1-32165518-G-T c.162C>A p.I54= Synonymous 4/71 - 1
1-32165642-C-T c.148G>A p.G50S Missense 3/71 - 4
1-32165648-C-T c.142G>A p.V48M Missense 3/71 - 3
1-32165652-GG-CT c.137_138delinsAG p.A46E Missense 3/71 - 1
1-32165656-G-A c.134C>T p.P45L Missense 3/71 - 1
1-32165661-GGCT-G c.127_129del p.S43del InFrameDeletion 3/71 - 1
1-32165662-C-A c.128G>T p.S43I Missense 3/71 - 1
1-32165662-C-G c.128G>C p.S43T Missense 3/71 - 1
1-32165662-C-T c.128G>A p.S43N Missense 3/71 - 1
1-32165665-C-A c.125G>T p.S42I Missense 3/71 - 1
1-32165665-C-T c.125G>A p.S42N Missense 3/71 - 1
1-32165666-T-C c.124A>G p.S42G Missense 3/71 - 1
1-32165668-CT-AA c.121_122delinsTT p.S41F Missense 3/71 - 1
1-32165674-T-A c.116A>T p.E39V Missense 3/71 - 1
1-32165676-C-A c.114G>T p.L38F Missense 3/71 - 1
1-32165679-T-C c.111A>G p.K37= Synonymous 3/71 - 1
1-32165684-G-A c.106C>T p.L36F Missense 3/71 - 1
1-32165685-T-A c.105A>T p.G35= Synonymous 3/71 - 1
1-32165685-T-C c.105A>G p.G35= Synonymous 3/71 - 1
1-32165685-T-G c.105A>C p.G35= Synonymous 3/71 - 1
1-32165691-C-T c.99G>A p.Q33= Synonymous 3/71 - 1
1-32165701-G-T c.89C>A p.P30H Missense 3/71 - 1
1-32165704-G-A c.86C>T p.P29L Missense 3/71 - 1
1-32165705-G-A c.85C>T p.P29S Missense 3/71 - 1
1-32165708-A-C c.82T>G p.C28G Missense 3/71 - 1
1-32165709-T-A c.81A>T p.Q27H Missense 3/71 - 1
1-32165709-T-G c.81A>C p.Q27H Missense 3/71 - 1
1-32165712-TGC-ACA c.76_78delinsTGT p.A26C Missense 3/71 - 3
1-32165713-G-C c.77C>G p.A26G Missense 3/71 - 2
1-32167177-C-T c.73+545G>A - IntronicSNV - 2/70 1
1-32167526-G-C c.73+196C>G - IntronicSNV - 2/70 4
1-32167526-G-T c.73+196C>A - IntronicSNV - 2/70 2
1-32167723-T-C c.72A>G p.T24= Synonymous 2/71 - 1
1-32167725-T-C c.70A>G p.T24A Missense 2/71 - 2
1-32167733-C-T c.62G>A p.G21E Missense 2/71 - 1
1-32167739-C-T c.56G>A p.G19D Missense 2/71 - 1
1-32167740-C-T c.55G>A p.G19S Missense 2/71 - 1
1-32167741-G-A c.54C>T p.F18= Synonymous 2/71 - 1
1-32167742-A-G c.53T>C p.F18S Missense 2/71 - 1
1-32167746-T-C c.49A>G p.T17A Missense 2/71 - 1
1-32167748-GC-TA c.46_47delinsTA p.A16Y Missense 2/71 - 1
1-32167751-C-A c.44G>T p.W15L Missense 2/71 - 1
1-32167755-G-A c.40C>T p.L14F Missense 2/71 - 5
1-32167758-C-T c.37G>A p.G13S Missense 2/71 - 2
1-32167759-G-A c.36C>T p.L12= Synonymous 2/71 - 3
1-32167759-G-C c.36C>G p.L12= Synonymous 2/71 - 1
1-32167759-G-T c.36C>A p.L12= Synonymous 2/71 - 1
1-32167765-C-T c.30G>A p.W10* Nonsense 2/71 - 1
1-32167766-C-T c.29G>A p.W10* Nonsense 2/71 - 1
1-32167772-C-A c.23G>T p.G8V Missense 2/71 - 1
1-32167781-C-T c.14G>A p.W5* Nonsense 2/71 - 1
1-32167783-G-A c.12C>T p.S4= Synonymous 2/71 - 2
1-32167783-G-C c.12C>G p.S4= Synonymous 2/71 - 1
1-32167783-G-T c.12C>A p.S4= Synonymous 2/71 - 1
1-32167784-G-A c.11C>T p.S4F Missense 2/71 - 1
1-32167785-A-C c.10T>G p.S4A Missense 2/71 - 2
1-32167784-GAT-G c.9_10del p.S4Lfs*38 Frameshift 2/71 - 1
1-32167791-A-G c.4T>C p.W2R Missense 2/71 - 1
1-32169439-G-A c.-36C>T - splice_region_variant,5_prime_UTR_variant 1/71 - 1
1-32169439-G-C c.-36C>G - splice_region_variant,5_prime_UTR_variant 1/71 - 1