ZNF608

ZNF608 zinc finger protein 608

Annotation transcript: NM_020747.3

1505 unique variant annotations were identified in 442 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
5-123973164-C-T c.*429G>A - 3-UTRSNV 10/10 - 1
5-123973701-T-C c.4533-102A>G - IntronicSNV - 9/9 5
5-123973735-C-G c.4533-136G>C - IntronicSNV - 9/9 5
5-123973735-C-T c.4533-136G>A - IntronicSNV - 9/9 5
5-123973925-A-G c.4533-326T>C - IntronicSNV - 9/9 2
5-123973933-A-C c.4533-334T>G - IntronicSNV - 9/9 1
5-123973933-A-G c.4533-334T>C - IntronicSNV - 9/9 1
5-123974325-A-C c.4532+501T>G - IntronicSNV - 9/9 1
5-123974608-T-A c.4532+218A>T - IntronicSNV - 9/9 2
5-123974608-T-C c.4532+218A>G - IntronicSNV - 9/9 4
5-123974673-T-C c.4532+153A>G - IntronicSNV - 9/9 4
5-123974687-T-C c.4532+139A>G - IntronicSNV - 9/9 1
5-123974833-G-A c.4525C>T p.Q1509* Nonsense 9/10 - 1
5-123974839-G-A c.4519C>T p.P1507S Missense 9/10 - 1
5-123974839-G-C c.4519C>G p.P1507A Missense 9/10 - 4
5-123974844-A-G c.4514T>C p.M1505T Missense 9/10 - 1
5-123974845-T-G c.4513A>C p.M1505L Missense 9/10 - 1
5-123974847-C-A c.4511G>T p.G1504V Missense 9/10 - 1
5-123974848-C-G c.4510G>C p.G1504R Missense 9/10 - 1
5-123974852-T-A c.4506A>T p.A1502= Synonymous 9/10 - 1
5-123974852-T-C c.4506A>G p.A1502= Synonymous 9/10 - 3
5-123974852-T-G c.4506A>C p.A1502= Synonymous 9/10 - 1
5-123974863-G-A c.4495C>T p.Q1499* Nonsense 9/10 - 1
5-123974866-C-T c.4492G>A p.A1498T Missense 9/10 - 1
5-123974869-C-T c.4489G>A p.A1497T Missense 9/10 - 1
5-123974870-C-A c.4488G>T p.V1496= Synonymous 9/10 - 1
5-123974872-C-T c.4486G>A p.V1496M Missense 9/10 - 1
5-123974878-G-C c.4480C>G p.Q1494E Missense 9/10 - 4
5-123974882-G-T c.4476C>A p.A1492= Synonymous 9/10 - 1
5-123974888-A-C c.4470T>G p.L1490= Synonymous 9/10 - 3
5-123974888-A-G c.4470T>C p.L1490= Synonymous 9/10 - 1
5-123974888-A-T c.4470T>A p.L1490= Synonymous 9/10 - 1
5-123974890-G-A c.4468C>T p.L1490F Missense 9/10 - 2
5-123974901-G-A c.4457C>T p.T1486I Missense 9/10 - 4
5-123974902-T-G c.4456A>C p.T1486P Missense 9/10 - 1
5-123974903-C-A c.4455G>T p.L1485F Missense 9/10 - 1
5-123974903-C-G c.4455G>C p.L1485F Missense 9/10 - 3
5-123974914-G-A c.4451-7C>T - IntronicSNV - 8/9 3
5-123976948-G-C c.4447C>G p.Q1483E Missense 8/10 - 9
5-123976950-A-C c.4445T>G p.F1482C Missense 8/10 - 1
5-123976954-G-A c.4441C>T p.P1481S Missense 8/10 - 2
5-123976961-T-A c.4434A>T p.Q1478H Missense 8/10 - 1
5-123976961-T-G c.4434A>C p.Q1478H Missense 8/10 - 1
5-123976964-A-T c.4431T>A p.G1477= Synonymous 8/10 - 2
5-123976966-C-T c.4429G>A p.G1477S Missense 8/10 - 1
5-123976967-C-A c.4428G>T p.P1476= Synonymous 8/10 - 6
5-123976967-C-G c.4428G>C p.P1476= Synonymous 8/10 - 1
5-123976967-C-T c.4428G>A p.P1476= Synonymous 8/10 - 7
5-123976968-G-A c.4427C>T p.P1476L Missense 8/10 - 1
5-123976968-G-C c.4427C>G p.P1476R Missense 8/10 - 1
5-123976970-G-A c.4425C>T p.I1475= Synonymous 8/10 - 1
5-123976970-G-T c.4425C>A p.I1475= Synonymous 8/10 - 1
5-123976976-C-A c.4419G>T p.P1473= Synonymous 8/10 - 1
5-123976976-C-G c.4419G>C p.P1473= Synonymous 8/10 - 1
5-123976976-C-T c.4419G>A p.P1473= Synonymous 8/10 - 1
5-123976977-G-A c.4418C>T p.P1473L Missense 8/10 - 1
5-123976977-G-T c.4418C>A p.P1473Q Missense 8/10 - 2
5-123976983-C-G c.4412G>C p.G1471A Missense 8/10 - 1
5-123976985-C-A c.4410G>T p.M1470I Missense 8/10 - 2
5-123976985-C-G c.4410G>C p.M1470I Missense 8/10 - 2
5-123976985-C-T c.4410G>A p.M1470I Missense 8/10 - 2
5-123976993-C-T c.4402G>A p.V1468I Missense 8/10 - 2
5-123976994-G-A c.4401C>T p.H1467= Synonymous 8/10 - 1
5-123976994-G-C c.4401C>G p.H1467Q Missense 8/10 - 1
5-123976999-T-C c.4396A>G p.T1466A Missense 8/10 - 4
5-123976999-T-G c.4396A>C p.T1466P Missense 8/10 - 1
5-123977001-T-C c.4394A>G p.H1465R Missense 8/10 - 1
5-123977003-G-A c.4392C>T p.H1464= Synonymous 8/10 - 2
5-123977004-T-G c.4391A>C p.H1464P Missense 8/10 - 2
5-123977006-G-A c.4389C>T p.H1463= Synonymous 8/10 - 3
5-123977010-G-A c.4385C>T p.T1462M Missense 8/10 - 1
5-123977017-G-T c.4378C>A p.L1460M Missense 8/10 - 2
5-123977019-T-C c.4376A>G p.H1459R Missense 8/10 - 1
5-123977022-C-T c.4373G>A p.R1458Q Missense 8/10 - 2
5-123977023-G-A c.4372C>T p.R1458W Missense 8/10 - 4
5-123977029-C-G c.4366G>C p.G1456R Missense 8/10 - 1
5-123977029-C-T c.4366G>A p.G1456S Missense 8/10 - 3
5-123977030-G-A c.4365C>T p.F1455= Synonymous 8/10 - 1
5-123977030-GA-TT c.4364_4365delinsAA p.F1455* Nonsense 8/10 - 1
5-123977030-G-T c.4365C>A p.F1455L Missense 8/10 - 2
5-123977030-GA-G c.4364del p.F1455Sfs*20 Frameshift 8/10 - 1
5-123977030-G-C c.4365C>G p.F1455L Missense 8/10 - 1
5-123977032-A-C c.4363T>G p.F1455V Missense 8/10 - 5
5-123977032-A-G c.4363T>C p.F1455L Missense 8/10 - 2
5-123977034-G-A c.4361C>T p.P1454L Missense 8/10 - 4
5-123977036-G-A c.4359C>T p.S1453= Synonymous 8/10 - 5
5-123977036-G-C c.4359C>G p.S1453= Synonymous 8/10 - 1
5-123977036-G-T c.4359C>A p.S1453= Synonymous 8/10 - 1
5-123977040-T-C c.4355A>G p.H1452R Missense 8/10 - 1
5-123977043-C-T c.4352G>A p.R1451H Missense 8/10 - 2
5-123977044-G-A c.4351C>T p.R1451C Missense 8/10 - 2
5-123977044-G-C c.4351C>G p.R1451G Missense 8/10 - 1
5-123977048-C-T c.4347G>A p.R1449= Synonymous 8/10 - 1
5-123977050-T-G c.4345A>C p.R1449= Synonymous 8/10 - 2
5-123977053-C-T c.4342G>A p.E1448K Missense 8/10 - 1
5-123977055-C-T c.4340G>A p.R1447K Missense 8/10 - 1
5-123977061-G-A c.4334C>T p.A1445V Missense 8/10 - 1
5-123977061-G-T c.4334C>A p.A1445E Missense 8/10 - 1
5-123977062-C-T c.4333G>A p.A1445T Missense 8/10 - 1
5-123977066-C-G c.4329G>C p.R1443= Synonymous 8/10 - 1
5-123977067-C-G c.4328G>C p.R1443P Missense 8/10 - 2
5-123977067-C-T c.4328G>A p.R1443Q Missense 8/10 - 2
5-123977068-G-A c.4327C>T p.R1443W Missense 8/10 - 1
5-123977071-C-T c.4324G>A p.E1442K Missense 8/10 - 1
5-123977074-G-A c.4321C>T p.R1441W Missense 8/10 - 1
5-123977077-C-A c.4318G>T p.E1440* Nonsense 8/10 - 1
5-123977083-T-C c.4312A>G p.T1438A Missense 8/10 - 1
5-123977086-C-T c.4309G>A p.A1437T Missense 8/10 - 1
5-123977087-CT-C c.4307del p.K1436Rfs*39 Frameshift 8/10 - 1
5-123977092-C-A c.4303G>T p.E1435* Nonsense 8/10 - 1
5-123977092-C-G c.4303G>C p.E1435Q Missense 8/10 - 1
5-123979112-C-T c.4296+92G>A - IntronicSNV - 7/9 1
5-123979149-T-C c.4296+55A>G - IntronicSNV - 7/9 1
5-123979206-C-G c.4294G>C p.A1432P Missense 7/10 - 2
5-123979210-A-C c.4290T>G p.S1430= Synonymous 7/10 - 1
5-123979210-A-G c.4290T>C p.S1430= Synonymous 7/10 - 1
5-123979210-A-T c.4290T>A p.S1430= Synonymous 7/10 - 1
5-123979216-G-A c.4284C>T p.S1428= Synonymous 7/10 - 3
5-123979217-C-T c.4283G>A p.S1428N Missense 7/10 - 2
5-123979220-C-T c.4280G>A p.R1427H Missense 7/10 - 1
5-123979221-G-A c.4279C>T p.R1427C Missense 7/10 - 1
5-123979242-G-A c.4258C>T p.Q1420* Nonsense 7/10 - 2
5-123979243-G-C c.4257C>G p.L1419= Synonymous 7/10 - 1
5-123979257-C-A c.4243G>T p.A1415S Missense 7/10 - 1
5-123979265-T-C c.4235A>G p.E1412G Missense 7/10 - 1
5-123979266-C-A c.4234G>T p.E1412* Nonsense 7/10 - 1
5-123979269-T-C c.4231A>G p.T1411A Missense 7/10 - 1
5-123979274-G-C c.4226C>G p.T1409R Missense 7/10 - 1
5-123979287-C-T c.4213G>A p.V1405I Missense 7/10 - 2
5-123979304-A-G c.4196T>C p.V1399A Missense 7/10 - 2
5-123979314-T-C c.4186A>G p.T1396A Missense 7/10 - 2
5-123979317-C-T c.4183G>A p.E1395K Missense 7/10 - 1
5-123979321-T-TC c.4178dup p.E1394Rfs*11 Frameshift 7/10 - 1
5-123979337-C-A c.4163G>T p.G1388V Missense 7/10 - 1
5-123979353-G-A c.4147C>T p.H1383Y Missense 7/10 - 1
5-123979353-G-T c.4147C>A p.H1383N Missense 7/10 - 1
5-123979361-GGA-G c.4137_4138del p.P1380Rfs*24 Frameshift 7/10 - 1
5-123979368-G-C c.4132C>G p.L1378V Missense 7/10 - 3
5-123979681-T-C c.4123+256A>G - IntronicSNV - 6/9 1
5-123979682-T-C c.4123+255A>G - IntronicSNV - 6/9 1
5-123979684-T-C c.4123+253A>G - IntronicSNV - 6/9 1
5-123979806-G-A c.4123+131C>T - IntronicSNV - 6/9 2
5-123979806-G-C c.4123+131C>G - IntronicSNV - 6/9 1
5-123979946-CT-C c.4114del p.S1372Vfs*103 Frameshift 6/10 - 1
5-123979951-A-G c.4109T>C p.M1370T Missense 6/10 - 1
5-123979958-C-G c.4102G>C p.V1368L Missense 6/10 - 1
5-123979966-A-G c.4094T>C p.V1365A Missense 6/10 - 1
5-123979972-C-A c.4088G>T p.R1363L Missense 6/10 - 1
5-123979972-C-T c.4088G>A p.R1363Q Missense 6/10 - 1
5-123979979-C-T c.4081G>A p.A1361T Missense 6/10 - 1
5-123979981-G-T c.4079C>A p.P1360H Missense 6/10 - 1
5-123979992-G-C c.4068C>G p.D1356E Missense 6/10 - 1
5-123979992-G-T c.4068C>A p.D1356E Missense 6/10 - 1
5-123980011-G-A c.4049C>T p.P1350L Missense 6/10 - 2
5-123980027-A-T c.4033T>A p.Y1345N Missense 6/10 - 2
5-123980028-C-A c.4032G>T p.Q1344H Missense 6/10 - 2
5-123980028-C-G c.4032G>C p.Q1344H Missense 6/10 - 1
5-123980028-C-T c.4032G>A p.Q1344= Synonymous 6/10 - 1
5-123980037-T-C c.4023A>G p.S1341= Synonymous 6/10 - 1
5-123980037-T-G c.4023A>C p.S1341= Synonymous 6/10 - 1
5-123980043-A-G c.4017T>C p.H1339= Synonymous 6/10 - 1
5-123980046-C-T c.4014G>A p.Q1338= Synonymous 6/10 - 1
5-123980064-G-A c.3996C>T p.V1332= Synonymous 6/10 - 1
5-123980064-G-C c.3996C>G p.V1332= Synonymous 6/10 - 1
5-123980064-G-T c.3996C>A p.V1332= Synonymous 6/10 - 1
5-123980083-C-T c.3977G>A p.R1326Q Missense 6/10 - 2
5-123980084-G-A c.3976C>T p.R1326W Missense 6/10 - 2
5-123980083-CGA-C c.3975_3976del p.R1326Gfs*78 Frameshift 6/10 - 1
5-123980089-T-A c.3971A>T p.D1324V Missense 6/10 - 1
5-123980094-C-G c.3966G>C p.W1322C Missense 6/10 - 4
5-123980096-A-G c.3964T>C p.W1322R Missense 6/10 - 1
5-123980096-A-T c.3964T>A p.W1322R Missense 6/10 - 1
5-123980101-A-G c.3959T>C p.V1320A Missense 6/10 - 2
5-123980113-C-A c.3947G>T p.R1316L Missense 6/10 - 3
5-123980113-C-G c.3947G>C p.R1316P Missense 6/10 - 1
5-123980113-C-T c.3947G>A p.R1316Q Missense 6/10 - 5
5-123980114-G-A c.3946C>T p.R1316* Nonsense 6/10 - 7
5-123980117-C-T c.3943G>A p.D1315N Missense 6/10 - 2
5-123980118-A-G c.3942T>C p.D1314= Synonymous 6/10 - 1
5-123980121-AT-A c.3938del p.N1313Mfs*8 Frameshift 6/10 - 1
5-123980127-C-T c.3933G>A p.L1311= Synonymous 6/10 - 1
5-123980136-C-T c.3924G>A p.E1308= Synonymous 6/10 - 1
5-123980141-C-T c.3919G>A p.E1307K Missense 6/10 - 1
5-123980142-C-A c.3918G>T p.M1306I Missense 6/10 - 2
5-123980142-C-G c.3918G>C p.M1306I Missense 6/10 - 2
5-123980142-C-T c.3918G>A p.M1306I Missense 6/10 - 3
5-123980144-T-C c.3916A>G p.M1306V Missense 6/10 - 3
5-123980150-G-A c.3910C>T p.Q1304* Nonsense 6/10 - 1
5-123980150-G-C c.3910C>G p.Q1304E Missense 6/10 - 4
5-123980152-G-T c.3908C>A p.S1303Y Missense 6/10 - 1
5-123980155-T-G c.3905A>C p.D1302A Missense 6/10 - 1
5-123980160-A-G c.3900T>C p.H1300= Synonymous 6/10 - 1
5-123980161-T-C c.3899A>G p.H1300R Missense 6/10 - 1
5-123980164-T-C c.3896A>G p.K1299R Missense 6/10 - 9
5-123980165-T-A c.3895A>T p.K1299* Nonsense 6/10 - 1
5-123980167-G-C c.3893C>G p.A1298G Missense 6/10 - 1
5-123980178-C-T c.3882G>A p.E1294= Synonymous 6/10 - 2
5-123980183-C-T c.3877G>A p.E1293K Missense 6/10 - 2
5-123980188-A-T c.3872T>A p.I1291N Missense 6/10 - 1
5-123980191-C-T c.3869G>A p.S1290N Missense 6/10 - 2
5-123980195-T-C c.3865A>G p.T1289A Missense 6/10 - 1
5-123980196-T-C c.3864A>G p.L1288= Synonymous 6/10 - 1
5-123980198-A-G c.3862T>C p.L1288= Synonymous 6/10 - 1
5-123980199-C-A c.3861G>T p.S1287= Synonymous 6/10 - 1
5-123980199-C-G c.3861G>C p.S1287= Synonymous 6/10 - 1
5-123980199-C-T c.3861G>A p.S1287= Synonymous 6/10 - 1
5-123980200-G-A c.3860C>T p.S1287L Missense 6/10 - 2
5-123980214-G-A c.3846C>T p.P1282= Synonymous 6/10 - 2
5-123980216-G-A c.3844C>T p.P1282S Missense 6/10 - 2
5-123980219-C-A c.3841G>T p.V1281L Missense 6/10 - 1
5-123980219-C-G c.3841G>C p.V1281L Missense 6/10 - 1
5-123980224-C-T c.3836G>A p.S1279N Missense 6/10 - 1
5-123980226-C-A c.3834G>T p.E1278D Missense 6/10 - 1
5-123980226-C-G c.3834G>C p.E1278D Missense 6/10 - 2
5-123980230-T-A c.3830A>T p.K1277I Missense 6/10 - 7
5-123980230-T-G c.3830A>C p.K1277T Missense 6/10 - 1
5-123980231-T-C c.3829A>G p.K1277E Missense 6/10 - 1
5-123980236-G-A c.3824C>T p.P1275L Missense 6/10 - 1
5-123980244-C-T c.3816G>A p.R1272= Synonymous 6/10 - 1
5-123980246-T-G c.3814A>C p.R1272= Synonymous 6/10 - 1
5-123980245-CT-TG c.3814_3815delinsCA p.R1272Q Missense 6/10 - 1
5-123980247-C-T c.3813G>A p.P1271= Synonymous 6/10 - 1
5-123980248-G-A c.3812C>T p.P1271L Missense 6/10 - 1
5-123980248-G-T c.3812C>A p.P1271Q Missense 6/10 - 1
5-123980249-G-A c.3811C>T p.P1271S Missense 6/10 - 1
5-123980268-C-A c.3792G>T p.K1264N Missense 6/10 - 1
5-123980268-C-G c.3792G>C p.K1264N Missense 6/10 - 1
5-123980275-C-G c.3785G>C p.R1262T Missense 6/10 - 2
5-123980279-C-G c.3781G>C p.D1261H Missense 6/10 - 3
5-123980289-T-C c.3771A>G p.S1257= Synonymous 6/10 - 1
5-123980300-G-A c.3760C>T p.Q1254* Nonsense 6/10 - 1
5-123980306-G-C c.3754C>G p.L1252V Missense 6/10 - 1
5-123980312-T-C c.3748A>G p.K1250E Missense 6/10 - 1
5-123980318-G-A c.3742C>T p.Q1248* Nonsense 6/10 - 1
5-123980327-A-G c.3733T>C p.Y1245H Missense 6/10 - 1
5-123980330-G-A c.3730C>T p.H1244Y Missense 6/10 - 5
5-123980330-G-T c.3730C>A p.H1244N Missense 6/10 - 2
5-123980334-C-T c.3726G>A p.W1242* Nonsense 6/10 - 1
5-123980335-C-T c.3725G>A p.W1242* Nonsense 6/10 - 1
5-123980336-A-G c.3724T>C p.W1242R Missense 6/10 - 2
5-123980336-A-T c.3724T>A p.W1242R Missense 6/10 - 2
5-123980344-G-C c.3716C>G p.S1239* Nonsense 6/10 - 1
5-123980344-G-T c.3716C>A p.S1239* Nonsense 6/10 - 1
5-123980352-G-T c.3708C>A p.D1236E Missense 6/10 - 1
5-123982189-T-A c.3705+183A>T - IntronicSNV - 5/9 1
5-123982357-G-A c.3705+15C>T - IntronicSNV - 5/9 1
5-123982366-TCTTA-T c.3705+2_3705+5del - IntronicDeletion 5/10 5/9 1
5-123982373-T-C c.3704A>G p.Q1235R Missense 5/10 - 1
5-123982400-C-T c.3677G>A p.G1226D Missense 5/10 - 1
5-123982406-CT-C c.3671del p.Q1224Rfs*4 Frameshift 5/10 - 2
5-123982409-T-C c.3668A>G p.K1223R Missense 5/10 - 1
5-123982412-A-G c.3665T>C p.M1222T Missense 5/10 - 1
5-123982415-G-T c.3662C>A p.S1221Y Missense 5/10 - 1
5-123982418-T-C c.3659A>G p.D1220G Missense 5/10 - 4
5-123982424-A-G c.3653T>C p.V1218A Missense 5/10 - 1
5-123982442-G-A c.3635C>T p.A1212V Missense 5/10 - 1
5-123982460-T-C c.3617A>G p.H1206R Missense 5/10 - 1
5-123982461-G-T c.3616C>A p.H1206N Missense 5/10 - 1
5-123982470-T-C c.3607A>G p.M1203V Missense 5/10 - 1
5-123982491-C-T c.3586G>A p.D1196N Missense 5/10 - 3
5-123982493-G-A c.3584C>T p.A1195V Missense 5/10 - 1
5-123982500-G-T c.3577C>A p.L1193I Missense 5/10 - 1
5-123982514-T-C c.3563A>G p.N1188S Missense 5/10 - 5
5-123982525-C-A c.3552G>T p.Q1184H Missense 5/10 - 1
5-123982525-C-G c.3552G>C p.Q1184H Missense 5/10 - 1
5-123982528-C-A c.3549G>T p.S1183= Synonymous 5/10 - 1
5-123982528-C-G c.3549G>C p.S1183= Synonymous 5/10 - 1
5-123982528-C-T c.3549G>A p.S1183= Synonymous 5/10 - 3
5-123982529-G-A c.3548C>T p.S1183L Missense 5/10 - 3
5-123982535-C-A c.3542G>T p.G1181V Missense 5/10 - 1
5-123982546-A-C c.3531T>G p.T1177= Synonymous 5/10 - 1
5-123982549-T-A c.3528A>T p.K1176N Missense 5/10 - 1
5-123982549-T-C c.3528A>G p.K1176= Synonymous 5/10 - 1
5-123982551-T-C c.3526A>G p.K1176E Missense 5/10 - 5
5-123982552-A-AT c.3524dup p.N1175Kfs*2 Frameshift 5/10 - 1
5-123982566-G-A c.3511C>T p.P1171S Missense 5/10 - 1
5-123982597-C-A c.3480G>T p.P1160= Synonymous 5/10 - 1
5-123982597-C-G c.3480G>C p.P1160= Synonymous 5/10 - 1
5-123982597-C-T c.3480G>A p.P1160= Synonymous 5/10 - 1
5-123982598-G-A c.3479C>T p.P1160L Missense 5/10 - 2
5-123982600-A-G c.3477T>C p.T1159= Synonymous 5/10 - 1
5-123982604-G-A c.3473C>T p.S1158F Missense 5/10 - 1
5-123982605-A-T c.3472T>A p.S1158T Missense 5/10 - 1
5-123982607-G-A c.3470C>T p.P1157L Missense 5/10 - 3
5-123982611-C-T c.3466G>A p.A1156T Missense 5/10 - 2
5-123982612-T-C c.3465A>G p.K1155= Synonymous 5/10 - 2
5-123982615-T-A c.3462A>T p.S1154= Synonymous 5/10 - 1
5-123982615-T-C c.3462A>G p.S1154= Synonymous 5/10 - 1
5-123982615-T-G c.3462A>C p.S1154= Synonymous 5/10 - 1
5-123982616-G-C c.3461C>G p.S1154* Nonsense 5/10 - 1
5-123982616-G-T c.3461C>A p.S1154* Nonsense 5/10 - 1
5-123982618-G-C c.3459C>G p.I1153M Missense 5/10 - 1
5-123982620-T-G c.3457A>C p.I1153L Missense 5/10 - 1
5-123982621-T-A c.3456A>T p.T1152= Synonymous 5/10 - 1
5-123982628-G-A c.3449C>T p.S1150L Missense 5/10 - 11
5-123982633-C-T c.3444G>A p.M1148I Missense 5/10 - 1
5-123982636-A-C c.3441T>G p.N1147K Missense 5/10 - 1
5-123982636-A-T c.3441T>A p.N1147K Missense 5/10 - 1
5-123982637-T-C c.3440A>G p.N1147S Missense 5/10 - 1
5-123982639-T-A c.3438A>T p.K1146N Missense 5/10 - 1
5-123982639-T-G c.3438A>C p.K1146N Missense 5/10 - 1
5-123982641-T-C c.3436A>G p.K1146E Missense 5/10 - 1
5-123982649-G-T c.3428C>A p.T1143N Missense 5/10 - 1
5-123982651-T-A c.3426A>T p.E1142D Missense 5/10 - 1
5-123982651-T-G c.3426A>C p.E1142D Missense 5/10 - 1
5-123982656-C-T c.3421G>A p.E1141K Missense 5/10 - 1
5-123982662-C-T c.3415G>A p.G1139S Missense 5/10 - 1
5-123982665-G-T c.3412C>A p.L1138M Missense 5/10 - 1
5-123982676-G-A c.3401C>T p.P1134L Missense 5/10 - 2
5-123982680-G-A c.3397C>T p.L1133F Missense 5/10 - 2
5-123982684-CA-C c.3393del p.S1131Rfs*5 Frameshift 5/10 - 1
5-123982685-C-G c.3392G>C p.S1131T Missense 5/10 - 4
5-123982685-CT-GC c.3391_3392delinsGC p.S1131A Missense 5/10 - 1
5-123982690-C-T c.3387G>A p.R1129= Synonymous 5/10 - 3
5-123982691-C-T c.3386G>A p.R1129K Missense 5/10 - 2
5-123982702-TCC-GCT c.3373_3375delinsAGC p.G1125S Missense 5/10 - 1
5-123982710-C-G c.3367G>C p.G1123R Missense 5/10 - 1
5-123982710-C-T c.3367G>A p.G1123R Missense 5/10 - 1
5-123982712-G-C c.3365C>G p.T1122S Missense 5/10 - 1
5-123982719-C-T c.3358G>A p.A1120T Missense 5/10 - 1
5-123982725-T-C c.3352A>G p.K1118E Missense 5/10 - 1
5-123982735-C-A c.3342G>T p.L1114= Synonymous 5/10 - 3
5-123982735-C-G c.3342G>C p.L1114= Synonymous 5/10 - 3
5-123982735-C-T c.3342G>A p.L1114= Synonymous 5/10 - 3
5-123982737-G-A c.3340C>T p.L1114= Synonymous 5/10 - 4
5-123982741-C-A c.3336G>T p.Q1112H Missense 5/10 - 1
5-123982741-C-G c.3336G>C p.Q1112H Missense 5/10 - 1
5-123982742-T-A c.3335A>T p.Q1112L Missense 5/10 - 1
5-123982757-T-G c.3320A>C p.K1107T Missense 5/10 - 1
5-123982753-GTACTTCTCA-G c.3315_3323del p.E1106_Y1108del InFrameDeletion 5/10 - 1
5-123982760-T-TA c.3316_3317insT p.E1106Vfs*5 Frameshift 5/10 - 1
5-123982761-C-T c.3316G>A p.E1106K Missense 5/10 - 1
5-123982762-CATA-C c.3313_3315del p.Y1105del InFrameDeletion 5/10 - 1
5-123982772-C-A c.3305G>T p.R1102I Missense 5/10 - 3
5-123982772-C-CT c.3304dup p.R1102Kfs*5 Frameshift 5/10 - 1
5-123982781-G-C c.3296C>G p.P1099R Missense 5/10 - 1
5-123982782-G-A c.3295C>T p.P1099S Missense 5/10 - 2
5-123982783-G-A c.3294C>T p.S1098= Synonymous 5/10 - 1
5-123982789-G-A c.3288C>T p.A1096= Synonymous 5/10 - 1
5-123982789-G-C c.3288C>G p.A1096= Synonymous 5/10 - 1
5-123982789-G-T c.3288C>A p.A1096= Synonymous 5/10 - 1
5-123982796-A-T c.3281T>A p.L1094Q Missense 5/10 - 3
5-123982803-T-A c.3274A>T p.K1092* Nonsense 5/10 - 2
5-123982804-C-A c.3273G>T p.Q1091H Missense 5/10 - 1
5-123982804-C-G c.3273G>C p.Q1091H Missense 5/10 - 1
5-123982813-A-T c.3264T>A p.Y1088* Nonsense 5/10 - 1
5-123982814-T-C c.3263A>G p.Y1088C Missense 5/10 - 1
5-123982820-C-G c.3257G>C p.G1086A Missense 5/10 - 1
5-123982821-C-A c.3256G>T p.G1086W Missense 5/10 - 2
5-123982822-A-G c.3255T>C p.Y1085= Synonymous 5/10 - 1
5-123982825-T-A c.3252A>T p.A1084= Synonymous 5/10 - 1
5-123982825-T-C c.3252A>G p.A1084= Synonymous 5/10 - 1
5-123982825-T-G c.3252A>C p.A1084= Synonymous 5/10 - 2
5-123982826-G-T c.3251C>A p.A1084E Missense 5/10 - 1
5-123982838-T-C c.3239A>G p.Y1080C Missense 5/10 - 3
5-123982841-T-A c.3236A>T p.Y1079F Missense 5/10 - 1
5-123982842-A-G c.3235T>C p.Y1079H Missense 5/10 - 2
5-123982844-A-G c.3233T>C p.L1078P Missense 5/10 - 2
5-123982848-A-T c.3229T>A p.S1077T Missense 5/10 - 1
5-123982854-C-A c.3223G>T p.A1075S Missense 5/10 - 2
5-123982854-C-T c.3223G>A p.A1075T Missense 5/10 - 1
5-123982855-C-A c.3222G>T p.L1074= Synonymous 5/10 - 1
5-123982855-C-G c.3222G>C p.L1074= Synonymous 5/10 - 1
5-123982855-C-T c.3222G>A p.L1074= Synonymous 5/10 - 1
5-123982857-G-A c.3220C>T p.L1074= Synonymous 5/10 - 1
5-123982859-G-A c.3218C>T p.A1073V Missense 5/10 - 4
5-123982862-G-A c.3215C>T p.P1072L Missense 5/10 - 2
5-123982862-G-T c.3215C>A p.P1072H Missense 5/10 - 1
5-123982871-T-C c.3206A>G p.Q1069R Missense 5/10 - 1
5-123982880-A-G c.3197T>C p.V1066A Missense 5/10 - 3
5-123982882-C-A c.3195G>T p.S1065= Synonymous 5/10 - 1
5-123982882-C-G c.3195G>C p.S1065= Synonymous 5/10 - 1
5-123982882-C-T c.3195G>A p.S1065= Synonymous 5/10 - 1
5-123982883-G-A c.3194C>T p.S1065L Missense 5/10 - 1
5-123982883-G-T c.3194C>A p.S1065* Nonsense 5/10 - 2
5-123982903-G-A c.3174C>T p.S1058= Synonymous 5/10 - 3
5-123982903-G-C c.3174C>G p.S1058= Synonymous 5/10 - 1
5-123982903-G-T c.3174C>A p.S1058= Synonymous 5/10 - 1
5-123982904-G-C c.3173C>G p.S1058C Missense 5/10 - 1
5-123982908-C-A c.3169G>T p.A1057S Missense 5/10 - 1
5-123982909-CA-C c.3168del p.A1057Hfs*10 Frameshift 5/10 - 1
5-123982910-G-T c.3167C>A p.S1056Y Missense 5/10 - 1
5-123982926-T-C c.3151A>G p.K1051E Missense 5/10 - 1
5-123982931-G-C c.3146C>G p.S1049C Missense 5/10 - 1
5-123982953-C-A c.3124G>T p.D1042Y Missense 5/10 - 1
5-123982957-C-A c.3120G>T p.K1040N Missense 5/10 - 1
5-123982957-C-G c.3120G>C p.K1040N Missense 5/10 - 1
5-123982957-CT-C c.3119del p.K1040Rfs*8 Frameshift 5/10 - 1
5-123982964-G-A c.3113C>T p.A1038V Missense 5/10 - 2
5-123982964-G-T c.3113C>A p.A1038D Missense 5/10 - 2
5-123982965-C-T c.3112G>A p.A1038T Missense 5/10 - 1
5-123982976-G-C c.3101C>G p.S1034C Missense 5/10 - 1
5-123982991-T-G c.3086A>C p.K1029T Missense 5/10 - 1
5-123982994-A-C c.3083T>G p.M1028R Missense 5/10 - 1
5-123982996-T-G c.3081A>C p.G1027= Synonymous 5/10 - 1
5-123982998-C-G c.3079G>C p.G1027R Missense 5/10 - 1
5-123982998-C-T c.3079G>A p.G1027R Missense 5/10 - 1
5-123983003-G-A c.3074C>T p.T1025M Missense 5/10 - 3
5-123983011-A-G c.3066T>C p.S1022S UnclassifiedSNV 5/10 - 3
5-123983012-C-T c.3065G>A p.S1022N Missense 5/10 - 1
5-123983013-T-C c.3064A>G p.S1022G Missense 5/10 - 1
5-123983018-C-T c.3059G>A p.G1020E Missense 5/10 - 1
5-123983021-G-A c.3056C>T p.A1019V Missense 5/10 - 2
5-123983025-C-T c.3052G>A p.A1018T Missense 5/10 - 1
5-123983030-G-A c.3047C>T p.A1016V Missense 5/10 - 1
5-123983033-C-G c.3044G>C p.G1015A Missense 5/10 - 3
5-123983034-C-T c.3043G>A p.G1015S Missense 5/10 - 1
5-123983042-C-A c.3035G>T p.G1012V Missense 5/10 - 4
5-123983046-G-T c.3031C>A p.P1011T Missense 5/10 - 1
5-123983050-C-T c.3027G>A p.M1009I Missense 5/10 - 1
5-123983055-A-T c.3022T>A p.Y1008N Missense 5/10 - 1
5-123983059-TGGAGAATAATAAGGATCATAGCTGTGGTAATAG-T c.2985_3017del p.Y996_P1006del InFrameDeletion 5/10 - 1
5-123983075-T-C c.3002A>G p.D1001G Missense 5/10 - 1
5-123983087-T-A c.2990A>T p.Y997F Missense 5/10 - 1
5-123983091-TA-T c.2986del p.Y996Ifs*33 Frameshift 5/10 - 1
5-123983093-G-A c.2984C>T p.P995L Missense 5/10 - 1
5-123983102-G-A c.2975C>T p.S992F Missense 5/10 - 1
5-123983102-GA-AG c.2974_2975delinsCT p.S992L Missense 5/10 - 1
5-123983103-A-G c.2974T>C p.S992P Missense 5/10 - 1
5-123983107-T-C c.2970A>G p.K990= Synonymous 5/10 - 1
5-123983113-T-G c.2964A>C p.Q988H Missense 5/10 - 1
5-123983114-T-G c.2963A>C p.Q988P Missense 5/10 - 1
5-123983115-G-A c.2962C>T p.Q988* Nonsense 5/10 - 1
5-123983119-T-C c.2958A>G p.S986= Synonymous 5/10 - 1
5-123983130-T-C c.2947A>G p.T983A Missense 5/10 - 1
5-123983145-CT-C c.2931del p.H979Ifs*11 Frameshift 5/10 - 1
5-123983168-G-A c.2909C>T p.S970F Missense 5/10 - 1
5-123983178-C-T c.2899G>A p.D967N Missense 5/10 - 1
5-123983185-G-A c.2892C>T p.S964= Synonymous 5/10 - 1
5-123983185-G-C c.2892C>G p.S964= Synonymous 5/10 - 1
5-123983185-G-T c.2892C>A p.S964= Synonymous 5/10 - 1
5-123983191-G-C c.2886C>G p.A962= Synonymous 5/10 - 2
5-123983197-T-A c.2880A>T p.S960= Synonymous 5/10 - 1
5-123983197-T-C c.2880A>G p.S960= Synonymous 5/10 - 2
5-123983197-T-G c.2880A>C p.S960= Synonymous 5/10 - 1
5-123983203-C-A c.2874G>T p.M958I Missense 5/10 - 1
5-123983203-C-G c.2874G>C p.M958I Missense 5/10 - 1
5-123983203-C-T c.2874G>A p.M958I Missense 5/10 - 1
5-123983204-A-C c.2873T>G p.M958R Missense 5/10 - 3
5-123983206-A-G c.2871T>C p.G957= Synonymous 5/10 - 1
5-123983212-C-A c.2865G>T p.S955= Synonymous 5/10 - 2
5-123983212-C-G c.2865G>C p.S955= Synonymous 5/10 - 2
5-123983212-CG-AA c.2864_2865delinsTT p.S955F Missense 5/10 - 1
5-123983212-C-T c.2865G>A p.S955= Synonymous 5/10 - 2
5-123983213-G-A c.2864C>T p.S955L Missense 5/10 - 1
5-123983220-T-A c.2857A>T p.S953C Missense 5/10 - 1
5-123983223-C-T c.2854G>A p.D952N Missense 5/10 - 1
5-123983231-C-T c.2846G>A p.G949D Missense 5/10 - 1
5-123983234-T-C c.2843A>G p.D948G Missense 5/10 - 1
5-123983235-C-A c.2842G>T p.D948Y Missense 5/10 - 4
5-123983235-C-T c.2842G>A p.D948N Missense 5/10 - 1
5-123983236-G-A c.2841C>T p.D947= Synonymous 5/10 - 1
5-123983236-G-C c.2841C>G p.D947E Missense 5/10 - 1
5-123983236-G-T c.2841C>A p.D947E Missense 5/10 - 1
5-123983238-C-T c.2839G>A p.D947N Missense 5/10 - 2
5-123983241-C-A c.2836G>T p.A946S Missense 5/10 - 5
5-123983244-C-A c.2833G>T p.A945S Missense 5/10 - 1
5-123983246-T-G c.2831A>C p.D944A Missense 5/10 - 1
5-123983253-T-C c.2824A>G p.I942V Missense 5/10 - 1
5-123983260-A-C c.2817T>G p.Y939* Nonsense 5/10 - 1
5-123983264-G-A c.2813C>T p.A938V Missense 5/10 - 1
5-123983266-C-T c.2811G>A p.P937= Synonymous 5/10 - 1
5-123983267-G-A c.2810C>T p.P937L Missense 5/10 - 2
5-123983272-G-A c.2805C>T p.S935= Synonymous 5/10 - 2
5-123983276-G-A c.2801C>T p.T934I Missense 5/10 - 1
5-123983298-C-A c.2779G>T p.A927S Missense 5/10 - 1
5-123983320-C-A c.2757G>T p.L919= Synonymous 5/10 - 1
5-123983322-G-C c.2755C>G p.L919V Missense 5/10 - 1
5-123983323-A-T c.2754T>A p.P918= Synonymous 5/10 - 1
5-123983324-G-C c.2753C>G p.P918R Missense 5/10 - 1
5-123983327-G-A c.2750C>T p.A917V Missense 5/10 - 1
5-123983329-C-T c.2748G>A p.M916I Missense 5/10 - 1
5-123983342-C-G c.2735G>C p.G912A Missense 5/10 - 1
5-123983343-C-G c.2734G>C p.G912R Missense 5/10 - 1
5-123983343-C-T c.2734G>A p.G912R Missense 5/10 - 1
5-123983349-C-T c.2728G>A p.V910M Missense 5/10 - 1
5-123983364-C-G c.2713G>C p.E905Q Missense 5/10 - 1
5-123983372-G-A c.2705C>T p.S902L Missense 5/10 - 2
5-123983374-G-A c.2703C>T p.A901= Synonymous 5/10 - 1
5-123983374-G-C c.2703C>G p.A901= Synonymous 5/10 - 1
5-123983374-G-T c.2703C>A p.A901= Synonymous 5/10 - 2
5-123983376-C-T c.2701G>A p.A901T Missense 5/10 - 3
5-123983386-G-A c.2691C>T p.S897= Synonymous 5/10 - 1
5-123983386-G-C c.2691C>G p.S897= Synonymous 5/10 - 1
5-123983386-G-T c.2691C>A p.S897= Synonymous 5/10 - 1
5-123983387-G-A c.2690C>T p.S897F Missense 5/10 - 1
5-123983390-G-A c.2687C>T p.P896L Missense 5/10 - 3
5-123983391-G-A c.2686C>T p.P896S Missense 5/10 - 1
5-123983392-G-A c.2685C>T p.S895= Synonymous 5/10 - 1
5-123983395-G-A c.2682C>T p.P894= Synonymous 5/10 - 3
5-123983396-G-A c.2681C>T p.P894L Missense 5/10 - 6
5-123983396-GG-AA c.2680_2681delinsTT p.P894F Missense 5/10 - 1
5-123983397-G-A c.2680C>T p.P894S Missense 5/10 - 1
5-123983407-T-G c.2670A>C p.T890= Synonymous 5/10 - 1
5-123983411-A-G c.2666T>C p.F889S Missense 5/10 - 1
5-123983420-A-G c.2657T>C p.V886A Missense 5/10 - 2
5-123983421-C-T c.2656G>A p.V886I Missense 5/10 - 1
5-123983422-C-A c.2655G>T p.K885N Missense 5/10 - 1
5-123983427-C-T c.2650G>A p.D884N Missense 5/10 - 4
5-123983428-G-A c.2649C>T p.A883= Synonymous 5/10 - 1
5-123983428-G-C c.2649C>G p.A883= Synonymous 5/10 - 1
5-123983428-G-T c.2649C>A p.A883= Synonymous 5/10 - 1
5-123983429-G-A c.2648C>T p.A883V Missense 5/10 - 1
5-123983433-C-G c.2644G>C p.E882Q Missense 5/10 - 2
5-123983433-C-T c.2644G>A p.E882K Missense 5/10 - 2
5-123983434-A-G c.2643T>C p.A881= Synonymous 5/10 - 1
5-123983443-A-G c.2634T>C p.S878= Synonymous 5/10 - 1
5-123983448-C-T c.2629G>A p.A877T Missense 5/10 - 1
5-123983453-C-T c.2624G>A p.R875H Missense 5/10 - 2
5-123983461-C-T c.2616G>A p.Q872= Synonymous 5/10 - 2
5-123983467-C-G c.2610G>C p.E870D Missense 5/10 - 1
5-123983467-C-T c.2610G>A p.E870= Synonymous 5/10 - 1
5-123983470-C-A c.2607G>T p.S869= Synonymous 5/10 - 1
5-123983470-C-T c.2607G>A p.S869= Synonymous 5/10 - 1
5-123983473-C-T c.2604G>A p.L868= Synonymous 5/10 - 1
5-123983475-G-A c.2602C>T p.L868= Synonymous 5/10 - 1
5-123983482-T-A c.2595A>T p.A865= Synonymous 5/10 - 1
5-123983485-C-A c.2592G>T p.L864= Synonymous 5/10 - 1
5-123983485-C-G c.2592G>C p.L864= Synonymous 5/10 - 1
5-123983485-C-T c.2592G>A p.L864= Synonymous 5/10 - 1
5-123983487-G-A c.2590C>T p.L864= Synonymous 5/10 - 1
5-123983490-C-A c.2587G>T p.G863W Missense 5/10 - 1
5-123983502-T-G c.2575A>C p.N859H Missense 5/10 - 1
5-123983505-G-T c.2572C>A p.L858I Missense 5/10 - 1
5-123983508-G-A c.2569C>T p.H857Y Missense 5/10 - 1
5-123983508-G-T c.2569C>A p.H857N Missense 5/10 - 1
5-123983509-A-C c.2568T>G p.D856E Missense 5/10 - 1
5-123983509-A-T c.2568T>A p.D856E Missense 5/10 - 1
5-123983512-CT-C c.2564del p.K855Rfs*44 Frameshift 5/10 - 1
5-123983517-A-T c.2560T>A p.L854I Missense 5/10 - 2
5-123983515-TA-T c.2561del p.L854* Frameshift 5/10 - 3
5-123983523-G-A c.2554C>T p.H852Y Missense 5/10 - 3
5-123983531-A-C c.2546T>G p.L849* Nonsense 5/10 - 1
5-123983531-A-T c.2546T>A p.L849* Nonsense 5/10 - 1
5-123983535-C-A c.2542G>T p.D848Y Missense 5/10 - 1
5-123983544-C-T c.2533G>A p.A845T Missense 5/10 - 1
5-123983546-C-G c.2531G>C p.G844A Missense 5/10 - 1
5-123983547-C-T c.2530G>A p.G844R Missense 5/10 - 1
5-123983559-C-T c.2518G>A p.E840K Missense 5/10 - 1
5-123983566-C-A c.2511G>T p.G837= Synonymous 5/10 - 1
5-123983566-C-G c.2511G>C p.G837= Synonymous 5/10 - 1
5-123983566-C-T c.2511G>A p.G837= Synonymous 5/10 - 1
5-123983567-C-T c.2510G>A p.G837E Missense 5/10 - 6
5-123983568-C-A c.2509G>T p.G837W Missense 5/10 - 1
5-123983568-C-G c.2509G>C p.G837R Missense 5/10 - 1
5-123983568-C-T c.2509G>A p.G837R Missense 5/10 - 1
5-123983582-A-G c.2495T>C p.M832T Missense 5/10 - 2
5-123983585-T-C c.2492A>G p.K831R Missense 5/10 - 1
5-123983586-T-C c.2491A>G p.K831E Missense 5/10 - 1
5-123983588-G-A c.2489C>T p.P830L Missense 5/10 - 1
5-123983590-G-A c.2487C>T p.S829= Synonymous 5/10 - 1
5-123983595-C-A c.2482G>T p.G828* Nonsense 5/10 - 1
5-123983596-C-A c.2481G>T p.T827= Synonymous 5/10 - 1
5-123983596-C-G c.2481G>C p.T827= Synonymous 5/10 - 1
5-123983596-C-T c.2481G>A p.T827= Synonymous 5/10 - 2
5-123983597-G-A c.2480C>T p.T827M Missense 5/10 - 2
5-123983602-T-C c.2475A>G p.K825= Synonymous 5/10 - 2
5-123983605-C-A c.2472G>T p.G824= Synonymous 5/10 - 1
5-123983605-C-G c.2472G>C p.G824= Synonymous 5/10 - 1
5-123983605-C-T c.2472G>A p.G824= Synonymous 5/10 - 2
5-123983606-C-T c.2471G>A p.G824E Missense 5/10 - 2
5-123983607-C-A c.2470G>T p.G824W Missense 5/10 - 1
5-123983615-T-C c.2462A>G p.D821G Missense 5/10 - 1
5-123983616-C-T c.2461G>A p.D821N Missense 5/10 - 1
5-123983620-T-A c.2457A>T p.L819= Synonymous 5/10 - 1
5-123983620-T-C c.2457A>G p.L819= Synonymous 5/10 - 1
5-123983620-T-G c.2457A>C p.L819= Synonymous 5/10 - 1
5-123983622-G-A c.2455C>T p.L819= Synonymous 5/10 - 1
5-123983620-T-TAC c.2456_2457insGT p.K820* Nonsense 5/10 - 1
5-123983627-C-T c.2450G>A p.R817Q Missense 5/10 - 1
5-123983626-T-A c.2451A>T p.R817= Synonymous 5/10 - 1
5-123983626-T-C c.2451A>G p.R817= Synonymous 5/10 - 1
5-123983626-T-G c.2451A>C p.R817= Synonymous 5/10 - 1
5-123983628-G-T c.2449C>A p.R817= Synonymous 5/10 - 1
5-123983634-C-T c.2443G>A p.E815K Missense 5/10 - 5
5-123983641-C-T c.2436G>A p.K812= Synonymous 5/10 - 2
5-123983645-T-C c.2432A>G p.K811R Missense 5/10 - 1
5-123983649-C-G c.2428G>C p.D810H Missense 5/10 - 1
5-123983650-T-C c.2427A>G p.K809K UnclassifiedSNV 5/10 - 3
5-123983671-G-C c.2406C>G p.N802K Missense 5/10 - 1
5-123983677-G-T c.2400C>A p.T800= Synonymous 5/10 - 1
5-123983678-G-A c.2399C>T p.T800I Missense 5/10 - 1
5-123983678-G-C c.2399C>G p.T800S Missense 5/10 - 1
5-123983679-T-A c.2398A>T p.T800S Missense 5/10 - 1
5-123983680-G-A c.2397C>T p.I799= Synonymous 5/10 - 1
5-123983680-G-T c.2397C>A p.I799= Synonymous 5/10 - 2
5-123983687-T-G c.2390A>C p.E797A Missense 5/10 - 1
5-123983689-T-C c.2388A>G p.G796= Synonymous 5/10 - 1
5-123983690-C-A c.2387G>T p.G796V UnclassifiedSNV 5/10 - 3
5-123983695-A-C c.2382T>G p.I794M Missense 5/10 - 1
5-123983703-G-A c.2374C>T p.P792S Missense 5/10 - 2
5-123983703-G-T c.2374C>A p.P792T Missense 5/10 - 1
5-123983716-G-A c.2361C>T p.P787= Synonymous 5/10 - 1
5-123983716-G-C c.2361C>G p.P787= Synonymous 5/10 - 1
5-123983716-G-T c.2361C>A p.P787= Synonymous 5/10 - 1
5-123983726-G-A c.2351C>T p.P784L Missense 5/10 - 2
5-123983731-A-C c.2346T>G p.S782R Missense 5/10 - 1
5-123983731-A-G c.2346T>C p.S782= Synonymous 5/10 - 1
5-123983731-A-T c.2346T>A p.S782R Missense 5/10 - 1
5-123983733-T-G c.2344A>C p.S782R Missense 5/10 - 1
5-123983732-C-T c.2345G>A p.S782N Missense 5/10 - 2
5-123983733-T-A c.2344A>T p.S782C Missense 5/10 - 1
5-123983744-G-A c.2333C>T p.A778V Missense 5/10 - 2
5-123983744-G-T c.2333C>A p.A778D Missense 5/10 - 1
5-123983748-G-A c.2329C>T p.Q777* Nonsense 5/10 - 4
5-123983751-C-T c.2326G>A p.V776I Missense 5/10 - 1
5-123983756-G-A c.2321C>T p.T774I Missense 5/10 - 1
5-123983756-G-C c.2321C>G p.T774S Missense 5/10 - 1
5-123983756-G-T c.2321C>A p.T774N Missense 5/10 - 1
5-123983757-T-A c.2320A>T p.T774S Missense 5/10 - 1
5-123983760-T-C c.2317A>G p.T773A Missense 5/10 - 2
5-123983761-T-G c.2316A>C p.T772= Synonymous 5/10 - 1
5-123983766-G-A c.2311C>T p.L771F Missense 5/10 - 1
5-123983770-G-T c.2307C>A p.P769= Synonymous 5/10 - 1
5-123983771-G-T c.2306C>A p.P769H Missense 5/10 - 2
5-123983772-G-A c.2305C>T p.P769S Missense 5/10 - 1
5-123983774-A-G c.2303T>C p.L768P Missense 5/10 - 1
5-123983775-G-A c.2302C>T p.L768= Synonymous 5/10 - 1
5-123983777-C-T c.2300G>A p.G767E Missense 5/10 - 2
5-123983778-C-G c.2299G>C p.G767R Missense 5/10 - 1
5-123983778-C-T c.2299G>A p.G767R Missense 5/10 - 5
5-123983800-C-A c.2277G>T p.T759= Synonymous 5/10 - 1
5-123983800-C-G c.2277G>C p.T759= Synonymous 5/10 - 1
5-123983800-C-T c.2277G>A p.T759= Synonymous 5/10 - 1
5-123983801-G-A c.2276C>T p.T759M Missense 5/10 - 1
5-123983805-T-C c.2272A>G p.T758A Missense 5/10 - 3
5-123983806-A-C c.2271T>G p.F757L Missense 5/10 - 1
5-123983806-A-T c.2271T>A p.F757L Missense 5/10 - 1
5-123983808-A-G c.2269T>C p.F757L Missense 5/10 - 1
5-123983809-G-A c.2268C>T p.T756= Synonymous 5/10 - 2
5-123983809-G-C c.2268C>G p.T756= Synonymous 5/10 - 1
5-123983809-G-T c.2268C>A p.T756= Synonymous 5/10 - 1
5-123983817-T-G c.2260A>C p.T754P Missense 5/10 - 3
5-123983831-TA-T c.2246del p.L749Qfs*37 Frameshift 5/10 - 1
5-123983834-CT-C c.2243del p.Q748Rfs*2 Frameshift 5/10 - 3
5-123983834-T-G c.2243A>C p.Q748P Missense 5/10 - 1
5-123983836-C-A c.2241G>T p.P747= Synonymous 5/10 - 1
5-123983836-C-G c.2241G>C p.P747= Synonymous 5/10 - 2
5-123983836-C-T c.2241G>A p.P747= Synonymous 5/10 - 1
5-123983840-G-A c.2237C>T p.P746L Missense 5/10 - 1
5-123983840-G-T c.2237C>A p.P746H Missense 5/10 - 1
5-123983842-A-C c.2235T>G p.T745= Synonymous 5/10 - 1
5-123983842-A-G c.2235T>C p.T745= Synonymous 5/10 - 1
5-123983842-A-T c.2235T>A p.T745= Synonymous 5/10 - 2
5-123983844-T-G c.2233A>C p.T745P Missense 5/10 - 2
5-123983846-G-A c.2231C>T p.P744L Missense 5/10 - 2
5-123983846-G-T c.2231C>A p.P744H Missense 5/10 - 1
5-123983850-C-T c.2227G>A p.A743T Missense 5/10 - 1
5-123983858-G-T c.2219C>A p.P740H Missense 5/10 - 1
5-123983865-T-A c.2212A>T p.I738F Missense 5/10 - 1
5-123983867-G-A c.2210C>T p.P737L Missense 5/10 - 1
5-123983867-G-T c.2210C>A p.P737H Missense 5/10 - 1
5-123983870-C-T c.2207G>A p.R736Q Missense 5/10 - 1
5-123983871-G-A c.2206C>T p.R736W Missense 5/10 - 2
5-123983871-G-T c.2206C>A p.R736= Synonymous 5/10 - 1
5-123983876-C-G c.2201G>C p.S734T Missense 5/10 - 1
5-123983883-G-C c.2194C>G p.L732V Missense 5/10 - 5
5-123983889-A-T c.2188T>A p.S730T Missense 5/10 - 1
5-123983892-G-A c.2185C>T p.L729F Missense 5/10 - 1
5-123983893-G-C c.2184C>G p.N728K Missense 5/10 - 1
5-123983893-G-T c.2184C>A p.N728K Missense 5/10 - 1
5-123983901-C-T c.2176G>A p.D726N Missense 5/10 - 4
5-123983909-C-G c.2168G>C p.C723S Missense 5/10 - 1
5-123983910-A-T c.2167T>A p.C723S Missense 5/10 - 1
5-123983914-G-A c.2163C>T p.T721= Synonymous 5/10 - 2
5-123983914-G-C c.2163C>G p.T721= Synonymous 5/10 - 2
5-123983914-G-T c.2163C>A p.T721= Synonymous 5/10 - 2
5-123983915-G-T c.2162C>A p.T721N Missense 5/10 - 29
5-123983932-T-A c.2145A>T p.E715D Missense 5/10 - 1
5-123983932-T-G c.2145A>C p.E715D Missense 5/10 - 1
5-123983940-C-A c.2137G>T p.D713Y Missense 5/10 - 1
5-123983942-C-G c.2135G>C p.G712A Missense 5/10 - 1
5-123983942-C-T c.2135G>A p.G712E Missense 5/10 - 1
5-123983947-A-C c.2130T>G p.N710K Missense 5/10 - 1
5-123983947-ATT-A c.2128_2129del p.N710Ffs*4 Frameshift 5/10 - 1
5-123983951-T-G c.2126A>C p.K709T Missense 5/10 - 1
5-123983953-C-A c.2124G>T p.K708N Missense 5/10 - 1
5-123983953-C-G c.2124G>C p.K708N Missense 5/10 - 1
5-123983962-T-C c.2115A>G p.L705= Synonymous 5/10 - 1
5-123983966-C-A c.2111G>T p.G704V Missense 5/10 - 1
5-123983966-C-G c.2111G>C p.G704A Missense 5/10 - 1
5-123983966-C-T c.2111G>A p.G704E Missense 5/10 - 1
5-123983967-C-G c.2110G>C p.G704R Missense 5/10 - 1
5-123983967-C-T c.2110G>A p.G704R Missense 5/10 - 1
5-123983966-CCTT-C c.2108_2110del p.E703del InFrameDeletion 5/10 - 1
5-123983982-T-C c.2095A>G p.K699E Missense 5/10 - 1
5-123983986-C-A c.2091G>T p.M697I Missense 5/10 - 2
5-123983986-C-G c.2091G>C p.M697I Missense 5/10 - 2
5-123983986-C-T c.2091G>A p.M697I Missense 5/10 - 3
5-123983991-C-A c.2086G>T p.E696* Nonsense 5/10 - 1
5-123983991-C-T c.2086G>A p.E696K Missense 5/10 - 1
5-123983996-G-A c.2081C>T p.A694V Missense 5/10 - 1
5-123983997-C-T c.2080G>A p.A694T Missense 5/10 - 1
5-123984006-C-T c.2071G>A p.G691S Missense 5/10 - 1
5-123984020-C-A c.2057G>T p.C686F Missense 5/10 - 1
5-123984027-C-T c.2050G>A p.D684N Missense 5/10 - 1
5-123984031-C-A c.2046G>T p.A682= Synonymous 5/10 - 1
5-123984031-C-G c.2046G>C p.A682= Synonymous 5/10 - 1
5-123984031-C-T c.2046G>A p.A682= Synonymous 5/10 - 1
5-123984032-G-A c.2045C>T p.A682V Missense 5/10 - 2
5-123984038-G-A c.2039C>T p.T680M Missense 5/10 - 2
5-123984039-T-C c.2038A>G p.T680A Missense 5/10 - 2
5-123984051-T-C c.2026A>G p.I676V Missense 5/10 - 1
5-123984054-C-A c.2023G>T p.V675L Missense 5/10 - 1
5-123984054-C-G c.2023G>C p.V675L Missense 5/10 - 1
5-123984054-C-T c.2023G>A p.V675I Missense 5/10 - 1
5-123984056-G-A c.2021C>T p.P674L Missense 5/10 - 1
5-123984066-T-G c.2011A>C p.N671H Missense 5/10 - 1
5-123984075-T-C c.2002A>G p.N668D Missense 5/10 - 1
5-123984085-C-T c.1992G>A p.K664= Synonymous 5/10 - 1
5-123984087-T-A c.1990A>T p.K664* Nonsense 5/10 - 1
5-123984088-C-A c.1989G>T p.K663N Missense 5/10 - 1
5-123984088-C-G c.1989G>C p.K663N Missense 5/10 - 1
5-123984090-T-TA c.1986_1987insT p.K663* Nonsense 5/10 - 1
5-123984098-G-A c.1979C>T p.S660F Missense 5/10 - 4
5-123984098-G-C c.1979C>G p.S660C Missense 5/10 - 1
5-123984106-C-T c.1971G>A p.G657= Synonymous 5/10 - 1
5-123984111-C-G c.1966G>C p.A656P Missense 5/10 - 1
5-123984111-C-T c.1966G>A p.A656T Missense 5/10 - 1
5-123984112-T-C c.1965A>G p.K655= Synonymous 5/10 - 1
5-123984126-T-C c.1951A>G p.I651V Missense 5/10 - 1
5-123984127-G-A c.1950C>T p.S650= Synonymous 5/10 - 2
5-123984132-C-T c.1945G>A p.G649S Missense 5/10 - 1
5-123984138-C-A c.1939G>T p.G647C Missense 5/10 - 1
5-123984142-G-A c.1935C>T p.S645= Synonymous 5/10 - 1
5-123984143-C-T c.1934G>A p.S645N Missense 5/10 - 1
5-123984146-A-G c.1931T>C p.M644T Missense 5/10 - 1
5-123984150-G-C c.1927C>G p.L643V Missense 5/10 - 1
5-123984155-C-A c.1922G>T p.R641I Missense 5/10 - 2
5-123984155-C-G c.1922G>C p.R641T Missense 5/10 - 1
5-123984157-C-A c.1920G>T p.K640N Missense 5/10 - 1
5-123984157-C-G c.1920G>C p.K640N Missense 5/10 - 1
5-123984157-C-T c.1920G>A p.K640= Synonymous 5/10 - 1
5-123984162-C-A c.1915G>T p.G639* Nonsense 5/10 - 2
5-123984167-G-A c.1910C>T p.P637L Missense 5/10 - 2
5-123984168-G-C c.1909C>G p.P637A Missense 5/10 - 1
5-123984173-C-T c.1904G>A p.G635E Missense 5/10 - 1
5-123984174-C-T c.1903G>A p.G635R Missense 5/10 - 2
5-123984179-G-A c.1898C>T p.P633L Missense 5/10 - 1
5-123984185-C-T c.1892G>A p.G631E Missense 5/10 - 1
5-123984190-A-G c.1887T>C p.G629= Synonymous 5/10 - 1
5-123984193-A-G c.1884T>C p.P628= Synonymous 5/10 - 1
5-123984195-G-A c.1882C>T p.P628S Missense 5/10 - 1
5-123984195-G-T c.1882C>A p.P628T Missense 5/10 - 1
5-123984196-G-A c.1881C>T p.S627= Synonymous 5/10 - 4
5-123984196-G-C c.1881C>G p.S627= Synonymous 5/10 - 1
5-123984196-G-T c.1881C>A p.S627= Synonymous 5/10 - 1
5-123984197-G-A c.1880C>T p.S627F Missense 5/10 - 2
5-123984201-C-T c.1876G>A p.A626T Missense 5/10 - 1
5-123984202-C-A c.1875G>T p.P625= Synonymous 5/10 - 1
5-123984202-C-G c.1875G>C p.P625= Synonymous 5/10 - 1
5-123984202-C-T c.1875G>A p.P625= Synonymous 5/10 - 1
5-123984203-G-A c.1874C>T p.P625L Missense 5/10 - 2
5-123984207-C-T c.1870G>A p.A624T Missense 5/10 - 1
5-123984215-T-C c.1862A>G p.Q621R Missense 5/10 - 1
5-123984218-T-C c.1859A>G p.D620G Missense 5/10 - 2
5-123984231-C-G c.1846G>C p.V616L Missense 5/10 - 1
5-123984239-C-T c.1838G>A p.S613N Missense 5/10 - 1
5-123984250-G-T c.1827C>A p.C609* Nonsense 5/10 - 1
5-123984255-C-A c.1822G>T p.E608* Nonsense 5/10 - 1
5-123984258-G-A c.1819C>T p.L607F Missense 5/10 - 1
5-123984261-C-T c.1816G>A p.A606T Missense 5/10 - 1
5-123984262-C-A c.1815G>T p.V605= Synonymous 5/10 - 1
5-123984262-C-G c.1815G>C p.V605= Synonymous 5/10 - 1
5-123984262-C-T c.1815G>A p.V605= Synonymous 5/10 - 1
5-123984271-C-A c.1806G>T p.L602F Missense 5/10 - 1
5-123984271-C-G c.1806G>C p.L602F Missense 5/10 - 1
5-123984284-CA-GT c.1792_1793delinsAC p.C598T Missense 5/10 - 1
5-123984287-T-C c.1790A>G p.D597G Missense 5/10 - 1
5-123984289-C-A c.1788G>T p.S596= Synonymous 5/10 - 2
5-123984289-C-G c.1788G>C p.S596= Synonymous 5/10 - 2
5-123984289-C-T c.1788G>A p.S596= Synonymous 5/10 - 3
5-123984295-C-G c.1782G>C p.K594N Missense 5/10 - 1
5-123984297-T-C c.1780A>G p.K594E Missense 5/10 - 1
5-123984298-G-C c.1779C>G p.D593E Missense 5/10 - 1
5-123984298-G-T c.1779C>A p.D593E Missense 5/10 - 1
5-123984303-C-G c.1774G>C p.E592Q Missense 5/10 - 1
5-123984308-T-A c.1769A>T p.D590V Missense 5/10 - 3
5-123984308-T-C c.1769A>G p.D590G Missense 5/10 - 1
5-123984315-C-G c.1762G>C p.E588Q Missense 5/10 - 1
5-123984315-C-T c.1762G>A p.E588K Missense 5/10 - 4
5-123984316-G-A c.1761C>T p.F587= Synonymous 5/10 - 2
5-123984321-C-G c.1756G>C p.E586Q Missense 5/10 - 1
5-123984327-T-A c.1750A>T p.K584* Nonsense 5/10 - 1
5-123984335-G-T c.1742C>A p.P581Q Missense 5/10 - 1
5-123984338-T-C c.1739A>G p.D580G Missense 5/10 - 1
5-123984339-C-A c.1738G>T p.D580Y Missense 5/10 - 1
5-123984339-C-G c.1738G>C p.D580H Missense 5/10 - 1
5-123984339-C-T c.1738G>A p.D580N Missense 5/10 - 1
5-123984346-T-C c.1731A>G p.A577= Synonymous 5/10 - 1
5-123984351-G-A c.1726C>T p.H576Y Missense 5/10 - 3
5-123984353-G-T c.1724C>A p.A575D Missense 5/10 - 1
5-123984358-G-C c.1719C>G p.H573Q Missense 5/10 - 2
5-123984358-G-T c.1719C>A p.H573Q Missense 5/10 - 1
5-123984360-G-A c.1717C>T p.H573Y Missense 5/10 - 1
5-123984368-A-C c.1709T>G p.L570R UnclassifiedSNV 5/10 - 2
5-123984369-G-T c.1708C>A p.L570M Missense 5/10 - 1
5-123984370-G-A c.1707C>T p.G569= Synonymous 5/10 - 1
5-123984373-G-A c.1704C>T p.N568= Synonymous 5/10 - 1
5-123984374-T-A c.1703A>T p.N568I Missense 5/10 - 1
5-123984377-A-G c.1700T>C p.I567T Missense 5/10 - 1
5-123984377-A-T c.1700T>A p.I567N Missense 5/10 - 1
5-123984382-C-T c.1695G>A p.K565= Synonymous 5/10 - 3
5-123984388-C-A c.1689G>T p.K563N Missense 5/10 - 1
5-123984392-TT-CC c.1684_1685delinsGG p.K562G Missense 5/10 - 1
5-123984393-T-C c.1684A>G p.K562E Missense 5/10 - 1
5-123984394-G-C c.1683C>G p.N561K Missense 5/10 - 1
5-123984394-G-T c.1683C>A p.N561K Missense 5/10 - 1
5-123984395-T-C c.1682A>G p.N561S Missense 5/10 - 1
5-123984396-T-A c.1681A>T p.N561Y Missense 5/10 - 3
5-123984397-G-T c.1680C>A p.C560* Nonsense 5/10 - 1
5-123984412-A-G c.1665T>C p.C555= Synonymous 5/10 - 1
5-123984417-C-T c.1660G>A p.D554N UnclassifiedSNV 5/10 - 4
5-123984418-G-A c.1659C>T p.I553= Synonymous 5/10 - 1
5-123984428-G-A c.1649C>T p.P550L Missense 5/10 - 2
5-123984436-G-A c.1641C>T p.C547= Synonymous 5/10 - 1
5-123984438-A-G c.1639T>C p.C547R Missense 5/10 - 1
5-123984448-CA-C c.1628del p.L543Wfs*10 Frameshift 5/10 - 2
5-123984448-C-CA c.1628dup p.L543Ffs*26 Frameshift 5/10 - 1
5-123984456-T-C c.1621A>G p.T541A Missense 5/10 - 3
5-123984460-C-A c.1617G>T p.E539D Missense 5/10 - 2
5-123984460-C-T c.1617G>A p.E539= Synonymous 5/10 - 2
5-123984462-C-T c.1615G>A p.E539K Missense 5/10 - 1
5-123984463-CTG-C c.1613_1614del p.P538Rfs*30 Frameshift 5/10 - 1
5-123984464-G-C c.1613C>G p.P538R Missense 5/10 - 1
5-123984472-T-A c.1605A>T p.Q535H Missense 5/10 - 1
5-123984472-T-G c.1605A>C p.Q535H Missense 5/10 - 1
5-123984476-G-C c.1601C>G p.P534R Missense 5/10 - 1
5-123984478-G-A c.1599C>T p.T533= Synonymous 5/10 - 1
5-123984478-G-T c.1599C>A p.T533= Synonymous 5/10 - 1
5-123984484-G-A c.1593C>T p.P531= Synonymous 5/10 - 1
5-123984486-G-C c.1591C>G p.P531A Missense 5/10 - 2
5-123984494-CT-TG c.1582_1583delinsCA p.R528Q Missense 5/10 - 1
5-123984497-G-T c.1580C>A p.S527Y Missense 5/10 - 1
5-123984507-G-A c.1570C>T p.R524C Missense 5/10 - 10
5-123984512-C-T c.1565G>A p.R522H Missense 5/10 - 1
5-123984513-G-A c.1564C>T p.R522C Missense 5/10 - 1
5-123984522-G-T c.1555C>A p.P519T Missense 5/10 - 1
5-123984529-G-A c.1548C>T p.D516= Synonymous 5/10 - 1
5-123984534-C-A c.1543G>T p.E515* Nonsense 5/10 - 1
5-123984534-C-G c.1543G>C p.E515Q Missense 5/10 - 1
5-123984542-G-A c.1535C>T p.S512F Missense 5/10 - 1
5-123984545-T-C c.1532A>G p.N511S Missense 5/10 - 1
5-123984547-C-A c.1530G>T p.L510= Synonymous 5/10 - 1
5-123984547-C-G c.1530G>C p.L510= Synonymous 5/10 - 1
5-123984547-C-T c.1530G>A p.L510= Synonymous 5/10 - 1
5-123984549-G-A c.1528C>T p.L510= Synonymous 5/10 - 1
5-123984571-G-A c.1506C>T p.N502= Synonymous 5/10 - 1
5-123984576-T-C c.1501A>G p.K501E Missense 5/10 - 1
5-123984577-C-T c.1500G>A p.R500= Synonymous 5/10 - 2
5-123984578-C-T c.1499G>A p.R500K Missense 5/10 - 1
5-123984582-T-G c.1495A>C p.K499Q Missense 5/10 - 1
5-123984584-T-C c.1493A>G p.N498S Missense 5/10 - 1
5-123984587-G-C c.1490C>G p.T497S Missense 5/10 - 1
5-123984588-T-C c.1489A>G p.T497A Missense 5/10 - 1
5-123984589-G-A c.1488C>T p.S496= Synonymous 5/10 - 1
5-123984589-G-T c.1488C>A p.S496= Synonymous 5/10 - 1
5-123984596-G-A c.1481C>T p.P494L Missense 5/10 - 1
5-123984598-G-A c.1479C>T p.S493= Synonymous 5/10 - 1
5-123984599-CT-GG c.1477_1478delinsCC p.S493P Missense 5/10 - 1
5-123984603-C-A c.1474G>T p.A492S Missense 5/10 - 1
5-123984603-C-G c.1474G>C p.A492P Missense 5/10 - 1
5-123984603-C-T c.1474G>A p.A492T Missense 5/10 - 1
5-123984610-A-G c.1467T>C p.D489= Synonymous 5/10 - 3
5-123984613-C-CTG c.1463_1464insCA p.E488Dfs*24 Frameshift 5/10 - 1
5-123984617-G-A c.1460C>T p.A487V Missense 5/10 - 1
5-123984620-G-T c.1457C>A p.A486D Missense 5/10 - 1
5-123984627-T-G c.1450A>C p.N484H Missense 5/10 - 1
5-123984630-G-A c.1447C>T p.P483S Missense 5/10 - 1
5-123984631-G-A c.1446C>T p.P482= Synonymous 5/10 - 2
5-123984631-G-C c.1446C>G p.P482= Synonymous 5/10 - 1
5-123984631-G-T c.1446C>A p.P482= Synonymous 5/10 - 1
5-123984632-G-A c.1445C>T p.P482L Missense 5/10 - 2
5-123984628-T-TG c.1448dup p.N484Kfs*5 Frameshift 5/10 - 1
5-123984634-T-A c.1443A>T p.T481= Synonymous 5/10 - 1
5-123984634-T-C c.1443A>G p.T481= Synonymous 5/10 - 1
5-123984634-T-G c.1443A>C p.T481= Synonymous 5/10 - 1
5-123984638-C-G c.1439G>C p.R480T Missense 5/10 - 1
5-123984641-C-T c.1436G>A p.R479Q Missense 5/10 - 6
5-123984642-G-A c.1435C>T p.R479* Nonsense 5/10 - 2
5-123984643-TC-GT c.1433_1434delinsAC p.G478D Missense 5/10 - 1
5-123984644-C-T c.1433G>A p.G478E Missense 5/10 - 1
5-123984647-C-T c.1430G>A p.S477N Missense 5/10 - 1
5-123984652-A-G c.1425T>C p.N475= Synonymous 5/10 - 1
5-123984652-AT-A c.1424del p.N475Mfs*36 Frameshift 5/10 - 1
5-123984654-T-C c.1423A>G p.N475D Missense 5/10 - 1
5-123984658-G-A c.1419C>T p.S473= Synonymous 5/10 - 1
5-123984664-C-A c.1413G>T p.R471= Synonymous 5/10 - 1
5-123984665-C-T c.1412G>A p.R471Q Missense 5/10 - 2
5-123984666-G-A c.1411C>T p.R471W Missense 5/10 - 2
5-123984668-CT-TG c.1408_1409delinsCA p.R470Q Missense 5/10 - 1
5-123984671-C-G c.1406G>C p.G469A Missense 5/10 - 1
5-123984683-G-A c.1394C>T p.A465V Missense 5/10 - 1
5-123984683-G-GT c.1393_1394insA p.A465Dfs*24 Frameshift 5/10 - 1
5-123984684-C-A c.1393G>T p.A465S Missense 5/10 - 1
5-123984684-C-G c.1393G>C p.A465P Missense 5/10 - 2
5-123984684-C-T c.1393G>A p.A465T Missense 5/10 - 1
5-123984685-C-A c.1392G>T p.G464= Synonymous 5/10 - 2
5-123984685-C-G c.1392G>C p.G464= Synonymous 5/10 - 2
5-123984685-C-T c.1392G>A p.G464= Synonymous 5/10 - 2
5-123984686-C-A c.1391G>T p.G464V Missense 5/10 - 1
5-123984686-C-T c.1391G>A p.G464E Missense 5/10 - 1
5-123984688-C-T c.1389G>A p.G463= Synonymous 5/10 - 1
5-123984689-C-A c.1388G>T p.G463V Missense 5/10 - 1
5-123984683-GC-G c.1393del p.A465Pfs*46 Frameshift 5/10 - 2
5-123984683-G-GC c.1393dup p.A465Gfs*24 Frameshift 5/10 - 4
5-123984690-C-A c.1387G>T p.G463W Missense 5/10 - 1
5-123984691-T-A c.1386A>T p.R462S Missense 5/10 - 1
5-123984691-T-C c.1386A>G p.R462= Synonymous 5/10 - 1
5-123984691-T-G c.1386A>C p.R462S Missense 5/10 - 1
5-123984693-T-G c.1384A>C p.R462= Synonymous 5/10 - 1
5-123984697-C-T c.1380G>A p.K460= Synonymous 5/10 - 1
5-123984700-A-G c.1377T>C p.N459= Synonymous 5/10 - 1
5-123984703-C-T c.1374G>A p.Q458= Synonymous 5/10 - 1
5-123984706-C-A c.1371G>T p.L457= Synonymous 5/10 - 1
5-123984706-C-G c.1371G>C p.L457= Synonymous 5/10 - 1
5-123984706-C-T c.1371G>A p.L457= Synonymous 5/10 - 1
5-123984708-G-A c.1369C>T p.L457= Synonymous 5/10 - 1
5-123984707-A-G c.1370T>C p.L457P Missense 5/10 - 1
5-123984710-C-T c.1367G>A p.G456E Missense 5/10 - 1
5-123984716-GA-TT c.1360_1361delinsAA p.S454N Missense 5/10 - 1
5-123984720-C-T c.1357G>A p.E453K Missense 5/10 - 2
5-123984725-A-C c.1352T>G p.F451C Missense 5/10 - 1
5-123984725-A-T c.1352T>A p.F451Y Missense 5/10 - 1
5-123984728-C-A c.1349G>T p.S450I Missense 5/10 - 1
5-123984731-G-A c.1346C>T p.A449V Missense 5/10 - 1
5-123984740-C-T c.1337G>A p.G446D Missense 5/10 - 1
5-123984739-GC-G c.1337del p.G446Afs*65 Frameshift 5/10 - 1
5-123984750-GC-G c.1327del p.A443Lfs*68 Frameshift 5/10 - 1
5-123984751-A-AGG c.1325_1326insCC p.A443Lfs*69 Frameshift 5/10 - 1
5-123984753-C-A c.1324G>T p.A442S Missense 5/10 - 1
5-123984756-GC-G c.1321del p.A441Lfs*70 Frameshift 5/10 - 1
5-123984759-A-T c.1318T>A p.S440T Missense 5/10 - 2
5-123984760-C-A c.1317G>T p.R439S Missense 5/10 - 1
5-123984760-C-G c.1317G>C p.R439S Missense 5/10 - 1
5-123984761-C-T c.1316G>A p.R439K Missense 5/10 - 1
5-123984763-C-A c.1314G>T p.A438= Synonymous 5/10 - 3
5-123984763-C-G c.1314G>C p.A438= Synonymous 5/10 - 16
5-123984763-C-T c.1314G>A p.A438= Synonymous 5/10 - 18
5-123984764-G-A c.1313C>T p.A438V Missense 5/10 - 1
5-123984765-C-A c.1312G>T p.A438S Missense 5/10 - 1
5-123984772-C-A c.1305G>T p.G435= Synonymous 5/10 - 1
5-123984775-T-A c.1302A>T p.R434S Missense 5/10 - 1
5-123984775-T-G c.1302A>C p.R434S Missense 5/10 - 1
5-123984776-C-G c.1301G>C p.R434T Missense 5/10 - 1
5-123984778-G-A c.1299C>T p.G433= Synonymous 5/10 - 1
5-123984778-G-C c.1299C>G p.G433= Synonymous 5/10 - 1
5-123984778-G-T c.1299C>A p.G433= Synonymous 5/10 - 1
5-123984779-C-G c.1298G>C p.G433A Missense 5/10 - 1
5-123984786-C-T c.1291G>A p.G431S Missense 5/10 - 1
5-123984790-TCT-ACA c.1285_1287delinsTGT p.R429C Missense 5/10 - 1
5-123984794-A-AAC c.1282_1283insGT p.M428Sfs*2 Frameshift 5/10 - 1
5-123984798-C-G c.1279G>C p.E427Q Missense 5/10 - 1
5-123984799-CAG-GAT c.1276_1278delinsATC p.L426I Missense 5/10 - 1
5-123984804-C-A c.1273G>T p.D425Y Missense 5/10 - 3
5-123984804-C-T c.1273G>A p.D425N Missense 5/10 - 1
5-123984805-A-T c.1272T>A p.S424R Missense 5/10 - 1
5-123984811-C-A c.1266G>T p.P422= Synonymous 5/10 - 1
5-123984811-C-G c.1266G>C p.P422= Synonymous 5/10 - 1
5-123984811-C-T c.1266G>A p.P422= Synonymous 5/10 - 1
5-123984813-G-A c.1264C>T p.P422S Missense 5/10 - 2
5-123984816-A-C c.1261T>G p.S421A Missense 5/10 - 3
5-123984817-C-T c.1260G>A p.E420= Synonymous 5/10 - 3
5-123984819-C-A c.1258G>T p.E420* UnclassifiedSNV 5/10 - 4
5-123984824-A-C c.1253T>G p.F418C Missense 5/10 - 1
5-123984891-T-C c.1251-65A>G - IntronicSNV - 4/9 1
5-123984902-G-A c.1251-76C>T - IntronicSNV - 4/9 1
5-123984902-G-T c.1251-76C>A - IntronicSNV - 4/9 1
5-123985245-TA-T c.1250+58del - IntronicDeletion - 4/9 1
5-123985296-T-C c.1250+7A>G - IntronicSNV - 4/9 1
5-123985306-G-A c.1247C>T p.P416L Missense 4/10 - 1
5-123985304-TG-T c.1248del p.R417Gfs*12 Frameshift 4/10 - 1
5-123985308-A-C c.1245T>G p.P415= Synonymous 4/10 - 1
5-123985308-A-G c.1245T>C p.P415= Synonymous 4/10 - 1
5-123985308-A-T c.1245T>A p.P415= Synonymous 4/10 - 1
5-123985309-G-A c.1244C>T p.P415L Missense 4/10 - 1
5-123985314-C-G c.1239G>C p.W413C Missense 4/10 - 1
5-123985319-C-T c.1234G>A p.D412N Missense 4/10 - 1
5-123985320-G-A c.1233C>T p.H411= Synonymous 4/10 - 2
5-123985321-T-A c.1232A>T p.H411L Missense 4/10 - 1
5-123985326-G-A c.1227C>T p.T409= Synonymous 4/10 - 1
5-123985326-G-C c.1227C>G p.T409= Synonymous 4/10 - 1
5-123985326-G-T c.1227C>A p.T409= Synonymous 4/10 - 1
5-123985327-G-T c.1226C>A p.T409N Missense 4/10 - 3
5-123985336-A-G c.1217T>C p.L406P Missense 4/10 - 1
5-123985339-A-T c.1214T>A p.L405Q Missense 4/10 - 1
5-123985341-G-A c.1212C>T p.T404= Synonymous 4/10 - 3
5-123985341-G-C c.1212C>G p.T404= Synonymous 4/10 - 2
5-123985341-G-T c.1212C>A p.T404= Synonymous 4/10 - 2
5-123985344-TC-GT c.1208_1209delinsAC p.G403D Missense 4/10 - 1
5-123985341-GGTTCCCACGTACGTTTT-G c.1195_1211del p.K399Pfs*16 Frameshift 4/10 - 1
5-123985358-T-C c.1195A>G p.K399E Missense 4/10 - 1
5-123985360-T-A c.1193A>T p.N398I Missense 4/10 - 1
5-123985360-T-C c.1193A>G p.N398S Missense 4/10 - 1
5-123985363-C-A c.1190G>T p.R397M Missense 4/10 - 1
5-123985368-C-A c.1185G>T p.T395= Synonymous 4/10 - 1
5-123985372-A-G c.1181T>C p.V394A Missense 4/10 - 1
5-123985378-A-G c.1175T>C p.V392A Missense 4/10 - 1
5-123985379-C-T c.1174G>A p.V392I Missense 4/10 - 1
5-123985381-A-C c.1172T>G p.V391G Missense 4/10 - 1
5-123985390-C-A c.1163G>T p.G388V Missense 4/10 - 1
5-123985484-C-CA c.1163-95dup - IntronicInsertion - 3/9 4
5-123988063-G-T c.1163-2673C>A - IntronicSNV - 3/9 1
5-123990270-T-A c.1163-4880A>T - IntronicSNV - 3/9 1
5-123990270-T-C c.1163-4880A>G - IntronicSNV - 3/9 1
5-123994509-A-C c.1163-9119T>G - IntronicSNV - 3/9 1
5-123996897-T-G c.1163-11507A>C - IntronicSNV - 3/9 1
5-124000875-A-C c.1163-15485T>G - IntronicSNV - 3/9 1
5-124000876-A-C c.1163-15486T>G - IntronicSNV - 3/9 1
5-124000876-A-G c.1163-15486T>C - IntronicSNV - 3/9 1
5-124001213-G-A c.1163-15823C>T - IntronicSNV - 3/9 1
5-124001764-G-A c.1163-16374C>T - IntronicSNV - 3/9 1
5-124006034-T-C c.1163-20644A>G - IntronicSNV - 3/9 1
5-124013446-G-A c.1162+23261C>T - IntronicSNV - 3/9 1
5-124013468-G-A c.1162+23239C>T - IntronicSNV - 3/9 1
5-124013479-T-C c.1162+23228A>G - IntronicSNV - 3/9 1
5-124013480-C-G c.1162+23227G>C - IntronicSNV - 3/9 1
5-124016991-CA-C c.1162+19715del - IntronicDeletion - 3/9 1
5-124024281-T-G c.1162+12426A>C - IntronicSNV - 3/9 1
5-124029109-C-T c.1162+7598G>A - IntronicSNV - 3/9 1
5-124030305-T-A c.1162+6402A>T - IntronicSNV - 3/9 1
5-124030761-CACATTGGGG-C c.1162+5938_1162+5946del - IntronicDeletion - 3/9 1
5-124031242-G-A c.1162+5465C>T - IntronicSNV - 3/9 1
5-124031902-G-A c.1162+4805C>T - IntronicSNV - 3/9 1
5-124036508-A-G c.1162+199T>C - IntronicSNV - 3/9 1
5-124036555-C-T c.1162+152G>A - IntronicSNV - 3/9 4
5-124036617-T-C c.1162+90A>G - IntronicSNV - 3/9 1
5-124036671-G-T c.1162+36C>A - IntronicSNV - 3/9 1
5-124036676-C-A c.1162+31G>T - IntronicSNV - 3/9 1
5-124036676-C-T c.1162+31G>A - IntronicSNV - 3/9 1
5-124036715-TG-T c.1154del p.T385Kfs*6 Frameshift 3/10 - 2
5-124036719-C-T c.1150G>A p.E384K Missense 3/10 - 1
5-124036729-G-A c.1140C>T p.I380= Synonymous 3/10 - 4
5-124036733-C-A c.1136G>T p.G379V Missense 3/10 - 1
5-124036734-C-A c.1135G>T p.G379W Missense 3/10 - 1
5-124036739-AA-GG c.1129_1130delinsCC p.L377P Missense 3/10 - 1
5-124036739-A-G c.1130T>C p.L377S Missense 3/10 - 2
5-124036744-C-A c.1125G>T p.V375= Synonymous 3/10 - 1
5-124036744-C-G c.1125G>C p.V375= Synonymous 3/10 - 1
5-124036744-C-T c.1125G>A p.V375= Synonymous 3/10 - 1
5-124036754-C-T c.1115G>A p.G372E Missense 3/10 - 1
5-124036755-C-G c.1114G>C p.G372R Missense 3/10 - 1
5-124036755-C-T c.1114G>A p.G372R Missense 3/10 - 1
5-124036756-A-C c.1113T>G p.P371= Synonymous 3/10 - 1
5-124036757-G-C c.1112C>G p.P371R Missense 3/10 - 1
5-124036758-G-A c.1111C>T p.P371S Missense 3/10 - 1
5-124036761-C-A c.1108G>T p.E370* Nonsense 3/10 - 1
5-124036763-C-A c.1106G>T p.C369F Missense 3/10 - 1
5-124036766-G-T c.1103C>A p.P368H Missense 3/10 - 1
5-124036767-G-A c.1102C>T p.P368S Missense 3/10 - 2
5-124036770-C-G c.1099G>C p.G367R Missense 3/10 - 1
5-124036770-C-T c.1099G>A p.G367R Missense 3/10 - 1
5-124036775-C-T c.1094G>A p.C365Y Missense 3/10 - 1
5-124036777-C-A c.1092G>T p.E364D Missense 3/10 - 2
5-124036777-C-G c.1092G>C p.E364D Missense 3/10 - 1
5-124036780-T-A c.1089A>T p.P363= Synonymous 3/10 - 1
5-124036780-T-C c.1089A>G p.P363= Synonymous 3/10 - 1
5-124036780-T-G c.1089A>C p.P363= Synonymous 3/10 - 1
5-124036781-G-A c.1088C>T p.P363L Missense 3/10 - 1
5-124036784-T-C c.1085A>G p.E362G Missense 3/10 - 1
5-124036785-C-T c.1084G>A p.E362K Missense 3/10 - 1
5-124036797-C-A c.1072G>T p.G358* Nonsense 3/10 - 1
5-124036798-AAC-CAT c.1069_1071delinsATG p.V357M Missense 3/10 - 1
5-124036800-C-T c.1069G>A p.V357I Missense 3/10 - 1
5-124036801-T-A c.1068A>T p.E356D Missense 3/10 - 1
5-124036801-T-G c.1068A>C p.E356D Missense 3/10 - 1
5-124036805-C-T c.1064G>A p.C355Y Missense 3/10 - 1
5-124036807-TGTATTGACACCCACA-T c.1047_1061del p.V350_T354del InFrameDeletion 3/10 - 1
5-124036811-T-C c.1058A>G p.N353S Missense 3/10 - 3
5-124036812-T-C c.1057A>G p.N353D Missense 3/10 - 1
5-124036814-A-G c.1055T>C p.V352A Missense 3/10 - 1
5-124036819-C-A c.1050G>T p.V350= Synonymous 3/10 - 1
5-124036823-GA-AG c.1045_1046delinsCT p.S349L Missense 3/10 - 1
5-124036826-C-G c.1043G>C p.R348P Missense 3/10 - 2
5-124036831-CC-AT c.1037_1038delinsAT p.R346H Missense 3/10 - 1
5-124036832-CG-AT c.1036_1037delinsAT p.R346M Missense 3/10 - 1
5-124036832-C-T c.1037G>A p.R346Q Missense 3/10 - 1
5-124036833-G-A c.1036C>T p.R346W Missense 3/10 - 2
5-124036852-C-A c.1017G>T p.P339= Synonymous 3/10 - 2
5-124036852-C-G c.1017G>C p.P339= Synonymous 3/10 - 2
5-124036852-C-T c.1017G>A p.P339= Synonymous 3/10 - 2
5-124036853-G-T c.1016C>A p.P339Q Missense 3/10 - 1
5-124036854-G-A c.1015C>T p.P339S Missense 3/10 - 1
5-124036862-A-G c.1007T>C p.I336T Missense 3/10 - 1
5-124036876-T-A c.993A>T p.P331= Synonymous 3/10 - 1
5-124036878-G-A c.991C>T p.P331S Missense 3/10 - 5
5-124036879-G-A c.990C>T p.S330= Synonymous 3/10 - 1
5-124036889-G-A c.980C>T p.S327F Missense 3/10 - 1
5-124036891-GGG-TGCTGC c.976_978delinsGCAGCA p.P326delinsAA MultiAAMissense 3/10 - 1
5-124036896-G-A c.973C>T p.L325= Synonymous 3/10 - 1
5-124036900-C-T c.969G>A p.Q323= Synonymous 3/10 - 1
5-124036904-G-T c.965C>A p.P322H Missense 3/10 - 1
5-124036907-G-A c.962C>T p.T321M Missense 3/10 - 8
5-124036909-G-A c.960C>T p.L320= Synonymous 3/10 - 4
5-124036909-G-C c.960C>G p.L320= Synonymous 3/10 - 3
5-124036909-G-T c.960C>A p.L320= Synonymous 3/10 - 2
5-124036911-G-A c.958C>T p.L320F Missense 3/10 - 1
5-124036920-A-C c.949T>G p.S317A Missense 3/10 - 1
5-124036927-C-A c.942G>T p.P314= Synonymous 3/10 - 2
5-124036927-C-G c.942G>C p.P314= Synonymous 3/10 - 2
5-124036927-C-T c.942G>A p.P314= Synonymous 3/10 - 3
5-124036928-G-A c.941C>T p.P314L Missense 3/10 - 3
5-124036932-G-A c.937C>T p.P313S Missense 3/10 - 1
5-124036936-C-A c.933G>T p.A311= Synonymous 3/10 - 1
5-124036936-C-G c.933G>C p.A311= Synonymous 3/10 - 1
5-124036936-C-T c.933G>A p.A311= Synonymous 3/10 - 1
5-124036937-G-A c.932C>T p.A311V Missense 3/10 - 2
5-124036938-C-A c.931G>T p.A311S Missense 3/10 - 1
5-124036942-CAC-GAT c.925_927delinsATC p.V309I Missense 3/10 - 1
5-124036950-A-T c.919T>A p.F307I Missense 3/10 - 2
5-124036952-AG-TA c.916_917delinsTA p.L306* Nonsense 3/10 - 1
5-124036956-G-T c.913C>A p.P305T Missense 3/10 - 3
5-124036958-T-C c.911A>G p.D304G Missense 3/10 - 1
5-124036959-C-T c.910G>A p.D304N Missense 3/10 - 3
5-124041059-C-G c.907-4097G>C - IntronicSNV - 2/9 1
5-124041059-C-T c.907-4097G>A - IntronicSNV - 2/9 1
5-124044202-C-T c.907-7240G>A - IntronicSNV - 2/9 2
5-124044428-C-T c.907-7466G>A - IntronicSNV - 2/9 3
5-124044581-A-G c.907-7619T>C - IntronicSNV - 2/9 1
5-124045814-C-G c.907-8852G>C - IntronicSNV - 2/9 1
5-124045814-C-T c.907-8852G>A - IntronicSNV - 2/9 1
5-124047529-G-A c.907-10567C>T - IntronicSNV - 2/9 1
5-124050965-A-C c.907-14003T>G - IntronicSNV - 2/9 1
5-124056941-G-A c.907-19979C>T - IntronicSNV - 2/9 1
5-124059504-A-C c.906+20273T>G - IntronicSNV - 2/9 1
5-124065556-G-C c.906+14221C>G - IntronicSNV - 2/9 1
5-124065572-G-A c.906+14205C>T - IntronicSNV - 2/9 1
5-124066575-G-GT c.906+13201dup - IntronicInsertion - 2/9 1
5-124066825-AAG-A c.906+12950_906+12951del - IntronicDeletion - 2/9 1
5-124066833-AT-A c.906+12943del - IntronicDeletion - 2/9 1
5-124067742-G-A c.906+12035C>T - IntronicSNV - 2/9 1
5-124068918-T-C c.906+10859A>G - IntronicSNV - 2/9 1
5-124070900-G-A c.906+8877C>T - IntronicSNV - 2/9 1
5-124070928-T-C c.906+8849A>G - IntronicSNV - 2/9 1
5-124070949-A-G c.906+8828T>C - IntronicSNV - 2/9 1
5-124071788-G-A c.906+7989C>T - IntronicSNV - 2/9 1
5-124074667-G-A c.906+5110C>T - IntronicSNV - 2/9 1
5-124074749-T-C c.906+5028A>G - IntronicSNV - 2/9 1
5-124074789-T-C c.906+4988A>G - IntronicSNV - 2/9 1
5-124074949-C-T c.906+4828G>A - IntronicSNV - 2/9 1
5-124074952-T-C c.906+4825A>G - IntronicSNV - 2/9 1
5-124074953-A-C c.906+4824T>G - IntronicSNV - 2/9 1
5-124075397-G-C c.906+4380C>G - IntronicSNV - 2/9 1
5-124075418-A-G c.906+4359T>C - IntronicSNV - 2/9 1
5-124075470-C-T c.906+4307G>A - IntronicSNV - 2/9 2
5-124076730-T-C c.906+3047A>G - IntronicSNV - 2/9 1
5-124076912-T-C c.906+2865A>G - IntronicSNV - 2/9 1
5-124076993-A-G c.906+2784T>C - IntronicSNV - 2/9 1
5-124077015-T-G c.906+2762A>C - IntronicSNV - 2/9 1
5-124078042-G-C c.906+1735C>G - IntronicSNV - 2/9 1
5-124078046-T-A c.906+1731A>T - IntronicSNV - 2/9 1
5-124079547-AAGCAGC-A c.906+224_906+229del - IntronicDeletion - 2/9 1
5-124079547-AAGC-A c.906+227_906+229del - IntronicDeletion - 2/9 1
5-124079782-C-G c.901G>C p.E301Q Missense 2/10 - 1
5-124079782-C-T c.901G>A p.E301K Missense 2/10 - 1
5-124079788-T-C c.895A>G p.K299E Missense 2/10 - 1
5-124079793-T-G c.890A>C p.K297T Missense 2/10 - 2
5-124079795-C-A c.888G>T p.K296N Missense 2/10 - 1
5-124079797-T-TA c.885_886insT p.K296* Nonsense 2/10 - 1
5-124079798-G-A c.885C>T p.I295= Synonymous 2/10 - 1
5-124079804-CC-GA c.878_879delinsTC p.R293I Missense 2/10 - 1
5-124079804-C-T c.879G>A p.R293= Synonymous 2/10 - 1
5-124079806-T-G c.877A>C p.R293= Synonymous 2/10 - 1
5-124079810-G-GCCT c.872_873insAGG p.S291delinsRG MultiAAMissense 2/10 - 1
5-124079815-C-A c.868G>T p.E290* Nonsense 2/10 - 1
5-124079812-TCTC-T c.868_870del p.E290del InFrameDeletion 2/10 - 4
5-124079825-C-T c.858G>A p.E286= Synonymous 2/10 - 1
5-124079827-C-G c.856G>C p.E286Q Missense 2/10 - 1
5-124079828-T-A c.855A>T p.E285D Missense 2/10 - 1
5-124079828-T-G c.855A>C p.E285D Missense 2/10 - 1
5-124079837-T-A c.846A>T p.V282= Synonymous 2/10 - 1
5-124079837-T-C c.846A>G p.V282= Synonymous 2/10 - 2
5-124079837-T-G c.846A>C p.V282= Synonymous 2/10 - 2
5-124079840-C-T c.843G>A p.L281= Synonymous 2/10 - 2
5-124079842-A-G c.841T>C p.L281= Synonymous 2/10 - 2
5-124079845-T-A c.838A>T p.M280L Missense 2/10 - 1
5-124079845-T-G c.838A>C p.M280L Missense 2/10 - 1
5-124079851-T-C c.832A>G p.N278D Missense 2/10 - 1
5-124079851-T-G c.832A>C p.N278H Missense 2/10 - 1
5-124079853-C-T c.830G>A p.G277E Missense 2/10 - 1
5-124079854-C-T c.829G>A p.G277R Missense 2/10 - 1
5-124079864-T-C c.819A>G p.S273= Synonymous 2/10 - 1
5-124079873-G-A c.810C>T p.A270= Synonymous 2/10 - 1
5-124079875-C-T c.808G>A p.A270T Missense 2/10 - 2
5-124079877-CT-C c.805del p.S269Vfs*14 Frameshift 2/10 - 1
5-124079883-CT-GC c.799_800delinsGC p.S267A Missense 2/10 - 1
5-124079886-A-G c.797T>C p.V266A Missense 2/10 - 1
5-124079891-CCC-GCT c.790_792delinsAGC p.G264S Missense 2/10 - 1
5-124079902-C-T c.781G>A p.A261T Missense 2/10 - 1
5-124079907-C-G c.776G>C p.S259T Missense 2/10 - 1
5-124079907-CT-GG c.775_776delinsCC p.S259P Missense 2/10 - 1
5-124079911-C-A c.772G>T p.G258C Missense 2/10 - 1
5-124079917-C-G c.766G>C p.G256R Missense 2/10 - 1
5-124079917-C-T c.766G>A p.G256R Missense 2/10 - 1
5-124079918-AG-CA c.764_765delinsTG p.T255M Missense 2/10 - 1
5-124079926-C-T c.757G>A p.G253R Missense 2/10 - 2
5-124079937-G-A c.746C>T p.P249L Missense 2/10 - 1
5-124079937-G-T c.746C>A p.P249H Missense 2/10 - 1
5-124079940-CT-GC c.742_743delinsGC p.S248A Missense 2/10 - 1
5-124079942-C-A c.741G>T p.A247= Synonymous 2/10 - 1
5-124079943-G-A c.740C>T p.A247V Missense 2/10 - 3
5-124079945-G-A c.738C>T p.G246= Synonymous 2/10 - 1
5-124079945-G-C c.738C>G p.G246= Synonymous 2/10 - 1
5-124079945-G-T c.738C>A p.G246= Synonymous 2/10 - 1
5-124079946-C-A c.737G>T p.G246V Missense 2/10 - 1
5-124079948-A-C c.735T>G p.G245= Synonymous 2/10 - 1
5-124079950-C-G c.733G>C p.G245R Missense 2/10 - 2
5-124079952-C-T c.731G>A p.G244E Missense 2/10 - 4
5-124079953-C-G c.730G>C p.G244R Missense 2/10 - 1
5-124079953-C-T c.730G>A p.G244R Missense 2/10 - 2
5-124079964-G-A c.719C>T p.A240V Missense 2/10 - 1
5-124079965-C-G c.718G>C p.A240P Missense 2/10 - 1
5-124079965-C-T c.718G>A p.A240T Missense 2/10 - 1
5-124079966-C-G c.717G>C p.G239= Synonymous 2/10 - 1
5-124079967-C-T c.716G>A p.G239E Missense 2/10 - 3
5-124079983-G-GT c.699_700insA p.H234Tfs*34 Frameshift 2/10 - 1
5-124079983-TG-T c.700del p.H234Tfs*49 Frameshift 2/10 - 2
5-124079985-C-T c.698G>A p.G233E Missense 2/10 - 1
5-124079983-GC-G c.699del p.H234Tfs*49 Frameshift 2/10 - 1
5-124079983-G-GC c.699dup p.H234Afs*34 Frameshift 2/10 - 4
5-124079990-G-A c.693C>T p.S231= Synonymous 2/10 - 1
5-124079990-G-C c.693C>G p.S231= Synonymous 2/10 - 1
5-124079990-G-T c.693C>A p.S231= Synonymous 2/10 - 1
5-124079991-G-A c.692C>T p.S231F Missense 2/10 - 2
5-124079993-A-C c.690T>G p.P230= Synonymous 2/10 - 1
5-124079993-A-G c.690T>C p.P230= Synonymous 2/10 - 1
5-124079993-A-T c.690T>A p.P230= Synonymous 2/10 - 1
5-124079994-G-A c.689C>T p.P230L Missense 2/10 - 1
5-124079994-GG-AA c.688_689delinsTT p.P230F Missense 2/10 - 1
5-124079995-G-A c.688C>T p.P230S Missense 2/10 - 2
5-124079998-C-T c.685G>A p.A229T Missense 2/10 - 1
5-124079999-CCTG-C c.682_684del p.Q228del InFrameDeletion 2/10 - 1
5-124080001-G-C c.682C>G p.Q228E Missense 2/10 - 1
5-124080002-G-GC c.680dup p.S227Rfs*41 Frameshift 2/10 - 1
5-124080003-C-T c.680G>A p.S227N Missense 2/10 - 2
5-124080004-T-TA c.678_679insT p.S227* Nonsense 2/10 - 1
5-124080006-C-G c.677G>C p.G226A Missense 2/10 - 1
5-124080012-C-G c.671G>C p.G224A Missense 2/10 - 1
5-124080018-T-A c.665A>T p.Q222L Missense 2/10 - 2
5-124080022-G-A c.661C>T p.H221Y Missense 2/10 - 4
5-124080025-C-A c.658G>T p.G220C Missense 2/10 - 1
5-124080028-G-A c.655C>T p.Q219* Nonsense 2/10 - 1
5-124080031-G-T c.652C>A p.L218I Missense 2/10 - 1
5-124080038-G-A c.645C>T p.H215= Synonymous 2/10 - 2
5-124080039-T-A c.644A>T p.H215L Missense 2/10 - 1
5-124080042-T-C c.641A>G p.K214R Missense 2/10 - 1
5-124080045-T-C c.638A>G p.D213G Missense 2/10 - 1
5-124080050-C-A c.633G>T p.R211S Missense 2/10 - 1
5-124080050-C-G c.633G>C p.R211S Missense 2/10 - 1
5-124080050-C-T c.633G>A p.R211= Synonymous 2/10 - 1
5-124080051-C-G c.632G>C p.R211T Missense 2/10 - 1
5-124080051-C-T c.632G>A p.R211K Missense 2/10 - 1
5-124080051-CT-TG c.631_632delinsCA p.R211Q Missense 2/10 - 1
5-124080053-G-A c.630C>T p.S210= Synonymous 2/10 - 1
5-124080053-G-C c.630C>G p.S210= Synonymous 2/10 - 1
5-124080053-G-T c.630C>A p.S210= Synonymous 2/10 - 1
5-124080057-T-C c.626A>G p.K209R Missense 2/10 - 2
5-124080061-C-G c.622G>C p.G208R Missense 2/10 - 1
5-124080061-C-T c.622G>A p.G208R Missense 2/10 - 1
5-124080062-C-A c.621G>T p.A207= Synonymous 2/10 - 1
5-124080062-C-G c.621G>C p.A207= Synonymous 2/10 - 1
5-124080062-C-T c.621G>A p.A207= Synonymous 2/10 - 1
5-124080063-G-A c.620C>T p.A207V Missense 2/10 - 1
5-124080067-C-A c.616G>T p.D206Y Missense 2/10 - 1
5-124080068-C-T c.615G>A p.K205= Synonymous 2/10 - 1
5-124080078-T-A c.605A>T p.K202M Missense 2/10 - 1
5-124080082-C-T c.601G>A p.A201T Missense 2/10 - 1
5-124080083-G-C c.600C>G p.G200= Synonymous 2/10 - 1
5-124080085-C-T c.598G>A p.G200S Missense 2/10 - 1
5-124080087-C-A c.596G>T p.R199L Missense 2/10 - 2
5-124080086-T-A c.597A>T p.R199= Synonymous 2/10 - 1
5-124080086-T-C c.597A>G p.R199= Synonymous 2/10 - 1
5-124080086-T-G c.597A>C p.R199= Synonymous 2/10 - 1
5-124080088-G-T c.595C>A p.R199= Synonymous 2/10 - 1
5-124080090-C-T c.593G>A p.S198N Missense 2/10 - 1
5-124080092-G-A c.591C>T p.S197= Synonymous 2/10 - 1
5-124080092-G-T c.591C>A p.S197R Missense 2/10 - 1
5-124080094-T-C c.589A>G p.S197G Missense 2/10 - 1
5-124080095-C-G c.588G>C p.Q196H Missense 2/10 - 1
5-124080096-T-C c.587A>G p.Q196R Missense 2/10 - 1
5-124080099-CT-TA c.583_584delinsTA p.S195Y Missense 2/10 - 1
5-124080100-T-A c.583A>T p.S195C Missense 2/10 - 1
5-124080107-T-C c.576A>G p.P192= Synonymous 2/10 - 1
5-124080109-G-T c.574C>A p.P192T Missense 2/10 - 1
5-124080110-CT-GA c.572_573delinsTC p.K191I Missense 2/10 - 1
5-124080116-C-G c.567G>C p.E189D Missense 2/10 - 1
5-124080119-T-A c.564A>T p.K188N Missense 2/10 - 1
5-124080119-T-G c.564A>C p.K188N Missense 2/10 - 1
5-124080122-G-A c.561C>T p.S187= Synonymous 2/10 - 1
5-124080123-C-T c.560G>A p.S187N Missense 2/10 - 2
5-124080135-GA-CC c.547_548delinsGG p.S183G Missense 2/10 - 1
5-124080136-A-G c.547T>C p.S183P Missense 2/10 - 1
5-124080137-G-A c.546C>T p.G182= Synonymous 2/10 - 1
5-124080137-G-C c.546C>G p.G182= Synonymous 2/10 - 1
5-124080137-G-T c.546C>A p.G182= Synonymous 2/10 - 1
5-124080138-C-T c.545G>A p.G182D Missense 2/10 - 1
5-124080143-CCC-GCT c.538_540delinsAGC p.G180S Missense 2/10 - 1
5-124080144-C-A c.539G>T p.G180V Missense 2/10 - 2
5-124080144-C-G c.539G>C p.G180A Missense 2/10 - 1
5-124080148-C-G c.535G>C p.A179P Missense 2/10 - 2
5-124080149-G-A c.534C>T p.T178= Synonymous 2/10 - 1
5-124080149-G-C c.534C>G p.T178= Synonymous 2/10 - 1
5-124080149-G-T c.534C>A p.T178= Synonymous 2/10 - 1
5-124080157-C-T c.526G>A p.A176T Missense 2/10 - 1
5-124080159-G-A c.524C>T p.S175F Missense 2/10 - 1
5-124080164-G-C c.519C>G p.S173R Missense 2/10 - 1
5-124080165-C-G c.518G>C p.S173T Missense 2/10 - 1
5-124080166-T-C c.517A>G p.S173G Missense 2/10 - 1
5-124080169-T-C c.514A>G p.T172A Missense 2/10 - 1
5-124080171-C-T c.512G>A p.S171N Missense 2/10 - 2
5-124080172-T-C c.511A>G p.S171G Missense 2/10 - 1
5-124080174-G-A c.509C>T p.T170I Missense 2/10 - 1
5-124080175-T-C c.508A>G p.T170A Missense 2/10 - 1
5-124080178-T-C c.505A>G p.S169G Missense 2/10 - 1
5-124080180-T-C c.503A>G p.N168S Missense 2/10 - 1
5-124080183-C-T c.500G>A p.S167N Missense 2/10 - 2
5-124080188-TG-T c.494del p.P165Qfs*118 Frameshift 2/10 - 1
5-124080195-C-G c.488G>C p.G163A Missense 2/10 - 1
5-124080195-C-T c.488G>A p.G163D Missense 2/10 - 2
5-124080196-C-T c.487G>A p.G163S Missense 2/10 - 1
5-124080200-GC-CT c.482_483delinsAG p.G161E Missense 2/10 - 1
5-124080201-C-T c.482G>A p.G161D Missense 2/10 - 1
5-124080202-C-T c.481G>A p.G161S Missense 2/10 - 1
5-124080204-C-G c.479G>C p.G160A Missense 2/10 - 1
5-124080208-T-C c.475A>G p.S159G Missense 2/10 - 3
5-124080210-C-G c.473G>C p.S158T Missense 2/10 - 1
5-124080210-C-T c.473G>A p.S158N Missense 2/10 - 4
5-124080210-CT-GG c.472_473delinsCC p.S158P Missense 2/10 - 1
5-124080212-CAC-GAT c.469_471delinsATC p.V157I Missense 2/10 - 1
5-124080214-C-T c.469G>A p.V157M Missense 2/10 - 1
5-124080218-T-C c.465A>G p.Q155= Synonymous 2/10 - 1
5-124080218-T-G c.465A>C p.Q155H Missense 2/10 - 1
5-124080227-C-T c.456G>A p.A152= Synonymous 2/10 - 1
5-124080228-G-A c.455C>T p.A152V Missense 2/10 - 2
5-124080231-G-A c.452C>T p.S151L Missense 2/10 - 1
5-124080233-A-G c.450T>C p.N150= Synonymous 2/10 - 1
5-124080234-T-A c.449A>T p.N150I Missense 2/10 - 2
5-124080235-T-C c.448A>G p.N150D Missense 2/10 - 1
5-124080236-C-A c.447G>T p.M149I Missense 2/10 - 1
5-124080236-C-G c.447G>C p.M149I Missense 2/10 - 1
5-124080236-C-T c.447G>A p.M149I Missense 2/10 - 1
5-124080237-A-G c.446T>C p.M149T Missense 2/10 - 1
5-124080240-C-G c.443G>C p.G148A Missense 2/10 - 1
5-124080243-G-A c.440C>T p.T147I Missense 2/10 - 2
5-124080244-T-G c.439A>C p.T147P Missense 2/10 - 1
5-124080247-C-T c.436G>A p.A146T Missense 2/10 - 1
5-124080249-T-C c.434A>G p.E145G Missense 2/10 - 1
5-124080252-C-A c.431G>T p.G144V Missense 2/10 - 1
5-124080252-C-T c.431G>A p.G144E Missense 2/10 - 4
5-124080253-C-T c.430G>A p.G144R Missense 2/10 - 4
5-124080259-G-T c.424C>A p.R142S Missense 2/10 - 1
5-124080261-C-G c.422G>C p.G141A Missense 2/10 - 1
5-124080264-T-A c.419A>T p.Q140L Missense 2/10 - 1
5-124080263-TTGGACTTCCTGCCTCTTGCCAGTGCTGC-T c.392_419del p.S131Kfs*10 Frameshift 2/10 - 1
5-124080273-T-A c.410A>T p.Q137L Missense 2/10 - 1
5-124080277-T-A c.406A>T p.R136W Missense 2/10 - 1
5-124080277-T-TA c.405_406insT p.R136* Nonsense 2/10 - 2
5-124080282-C-A c.401G>T p.G134V Missense 2/10 - 2
5-124080282-C-T c.401G>A p.G134D Missense 2/10 - 2
5-124080288-C-T c.395G>A p.S132N Missense 2/10 - 2
5-124080289-T-G c.394A>C p.S132R Missense 2/10 - 1
5-124080291-CT-AA c.391_392delinsTT p.S131F Missense 2/10 - 1
5-124080293-G-C c.390C>G p.I130M Missense 2/10 - 1
5-124080294-A-T c.389T>A p.I130N Missense 2/10 - 2
5-124080297-T-G c.386A>C p.E129A Missense 2/10 - 1
5-124080299-G-A c.384C>T p.P128= Synonymous 2/10 - 1
5-124080299-G-C c.384C>G p.P128= Synonymous 2/10 - 1
5-124080299-G-T c.384C>A p.P128= Synonymous 2/10 - 1
5-124080301-G-T c.382C>A p.P128T Missense 2/10 - 1
5-124080304-T-C c.379A>G p.I127V Missense 2/10 - 1
5-124080305-C-A c.378G>T p.G126= Synonymous 2/10 - 1
5-124080305-C-G c.378G>C p.G126= Synonymous 2/10 - 1
5-124080305-C-T c.378G>A p.G126= Synonymous 2/10 - 1
5-124080309-T-A c.374A>T p.Y125F Missense 2/10 - 3
5-124080311-CA-C c.371del p.L124Cfs*26 Frameshift 2/10 - 1
5-124080316-C-T c.367G>A p.A123T Missense 2/10 - 1
5-124080323-A-C c.360T>G p.P120= Synonymous 2/10 - 1
5-124080323-A-G c.360T>C p.P120= Synonymous 2/10 - 1
5-124080323-A-T c.360T>A p.P120= Synonymous 2/10 - 1
5-124080330-G-T c.353C>A p.S118Y Missense 2/10 - 1
5-124080337-TAGC-T c.343_345del p.A115del InFrameDeletion 2/10 - 1
5-124080343-C-G c.340G>C p.D114H Missense 2/10 - 2
5-124080347-A-C c.336T>G p.S112= Synonymous 2/10 - 1
5-124080347-A-G c.336T>C p.S112= Synonymous 2/10 - 1
5-124080347-A-T c.336T>A p.S112= Synonymous 2/10 - 1
5-124080348-G-A c.335C>T p.S112F Missense 2/10 - 1
5-124080350-A-C c.333T>G p.T111= Synonymous 2/10 - 1
5-124080354-T-C c.329A>G p.K110R Missense 2/10 - 1
5-124080354-T-G c.329A>C p.K110T Missense 2/10 - 3
5-124080357-C-G c.326G>C p.S109T Missense 2/10 - 2
5-124080357-C-T c.326G>A p.S109N Missense 2/10 - 1
5-124080357-CT-GC c.325_326delinsGC p.S109A Missense 2/10 - 1
5-124080358-T-C c.325A>G p.S109G Missense 2/10 - 3
5-124080360-CT-TA c.322_323delinsTA p.R108* Nonsense 2/10 - 1
5-124080371-T-A c.312A>T p.S104= Synonymous 2/10 - 1
5-124080371-T-C c.312A>G p.S104= Synonymous 2/10 - 2
5-124080371-T-G c.312A>C p.S104= Synonymous 2/10 - 1
5-124080373-A-C c.310T>G p.S104A Missense 2/10 - 1
5-124080379-T-C c.304A>G p.S102G Missense 2/10 - 1
5-124080381-G-A c.302C>T p.T101I Missense 2/10 - 3
5-124080381-G-C c.302C>G p.T101S Missense 2/10 - 2
5-124080382-T-A c.301A>T p.T101S Missense 2/10 - 4
5-124080385-C-A c.298G>T p.E100* Nonsense 2/10 - 1
5-124080387-T-G c.296A>C p.K99T Missense 2/10 - 5
5-124080393-G-A c.290C>T p.S97L Missense 2/10 - 1
5-124080403-G-A c.280C>T p.Q94* Nonsense 2/10 - 1
5-124080406-G-A c.277C>T p.P93S Missense 2/10 - 1
5-124080409-C-T c.274G>A p.A92T Missense 2/10 - 1
5-124080411-G-A c.272C>T p.S91F Missense 2/10 - 12
5-124080411-G-C c.272C>G p.S91C Missense 2/10 - 4
5-124080413-G-A c.270C>T p.A90= Synonymous 2/10 - 1
5-124080415-C-G c.268G>C p.A90P Missense 2/10 - 2
5-124080415-C-T c.268G>A p.A90T Missense 2/10 - 1
5-124080416-C-T c.267G>A p.Q89= Synonymous 2/10 - 1
5-124080421-C-T c.262G>A p.V88I Missense 2/10 - 1
5-124080429-A-C c.254T>G p.F85C Missense 2/10 - 2
5-124080432-T-C c.251A>G p.K84R Missense 2/10 - 1
5-124080433-T-G c.250A>C p.K84Q Missense 2/10 - 7
5-124080436-G-C c.247C>G p.L83V Missense 2/10 - 3
5-124080438-C-T c.245G>A p.G82D Missense 2/10 - 2
5-124080443-A-C c.240T>G p.A80= Synonymous 2/10 - 1
5-124080444-G-A c.239C>T p.A80V Missense 2/10 - 1
5-124080445-C-G c.238G>C p.A80P Missense 2/10 - 1
5-124080448-A-C c.235T>G p.L79V Missense 2/10 - 1
5-124080452-TG-GT c.230_231delinsAC p.A77D Missense 2/10 - 1
5-124080454-C-T c.229G>A p.A77T Missense 2/10 - 2
5-124080455-GG-CA c.227_228delinsTG p.T76M Missense 2/10 - 1
5-124080459-G-A c.224C>T p.A75V Missense 2/10 - 2
5-124080463-C-A c.220G>T p.G74C Missense 2/10 - 1
5-124080465-GCCCCACTGGAGGCCGGAC-G c.200_217del p.G67_G72del InFrameDeletion 2/10 - 2
5-124080468-C-T c.215G>A p.G72E Missense 2/10 - 1
5-124080469-C-G c.214G>C p.G72R Missense 2/10 - 2
5-124080469-C-T c.214G>A p.G72R Missense 2/10 - 2
5-124080467-CCCACTGGAGGCCGGACCT-C c.198_215del p.G67_G72del InFrameDeletion 2/10 - 1
5-124080472-T-C c.211A>G p.S71G Missense 2/10 - 1
5-124080474-G-A c.209C>T p.S70F Missense 2/10 - 1
5-124080477-G-T c.206C>A p.A69D Missense 2/10 - 1
5-124080484-C-A c.199G>T p.G67C Missense 2/10 - 1
5-124080485-T-A c.198A>T p.G66= Synonymous 2/10 - 1
5-124080485-T-C c.198A>G p.G66= Synonymous 2/10 - 1
5-124080499-A-T c.184T>A p.S62T Missense 2/10 - 1
5-124080507-C-T c.176G>A p.S59N Missense 2/10 - 1
5-124080511-T-C c.172A>G p.S58G Missense 2/10 - 2
5-124080518-G-A c.165C>T p.T55= Synonymous 2/10 - 1
5-124080519-G-T c.164C>A p.T55N Missense 2/10 - 1
5-124080520-T-A c.163A>T p.T55S Missense 2/10 - 1
5-124080525-GA-G c.157del p.S53Pfs*27 Frameshift 2/10 - 1
5-124080533-C-T c.150G>A p.M50I Missense 2/10 - 1
5-124080538-C-T c.145G>A p.E49K Missense 2/10 - 1
5-124080539-AAA-CTC c.142_144delinsGAG p.F48E Missense 2/10 - 1
5-124080539-A-G c.144T>C p.F48= Synonymous 2/10 - 2
5-124080545-C-A c.138G>T p.Q46H Missense 2/10 - 1
5-124080545-C-G c.138G>C p.Q46H Missense 2/10 - 1
5-124080549-C-A c.134G>T p.R45I Missense 2/10 - 2
5-124080554-CT-GA c.128_129delinsTC p.K43I Missense 2/10 - 1
5-124080553-CCTT-C c.127_129del p.K43del InFrameDeletion 2/10 - 5
5-124080559-C-CA c.123_124insT p.E42* Nonsense 2/10 - 1
5-124080559-C-T c.124G>A p.E42K Missense 2/10 - 1
5-124080560-C-T c.123G>A p.L41= Synonymous 2/10 - 1
5-124080562-A-G c.121T>C p.L41= Synonymous 2/10 - 1
5-124080564-T-A c.119A>T p.D40V Missense 2/10 - 1
5-124080557-CTCCAAATCAGCG-C c.114_125del p.D38_L41del InFrameDeletion 2/10 - 3
5-124080567-GC-TA c.115_116delinsTA p.A39Y Missense 2/10 - 1
5-124080568-C-G c.115G>C p.A39P Missense 2/10 - 1
5-124080568-C-T c.115G>A p.A39T Missense 2/10 - 1
5-124080570-T-C c.113A>G p.D38G Missense 2/10 - 1
5-124080570-T-TC c.112dup p.D38Gfs*3 Frameshift 2/10 - 1
5-124080573-AA-CT c.109_110delinsAG p.L37R Missense 2/10 - 2
5-124080573-A-C c.110T>G p.L37W Missense 2/10 - 1
5-124080576-T-A c.107A>T p.D36V Missense 2/10 - 1
5-124080577-C-T c.106G>A p.D36N Missense 2/10 - 1
5-124080580-T-A c.103A>T p.I35F Missense 2/10 - 1
5-124080582-A-T c.101T>A p.I34K Missense 2/10 - 1
5-124080583-T-C c.100A>G p.I34V Missense 2/10 - 1
5-124080589-T-G c.94A>C p.N32H Missense 2/10 - 4
5-124080590-T-A c.93A>T p.G31= Synonymous 2/10 - 1
5-124080590-T-C c.93A>G p.G31= Synonymous 2/10 - 1
5-124080590-T-G c.93A>C p.G31= Synonymous 2/10 - 1
5-124080606-C-G c.77G>C p.W26S Missense 2/10 - 1
5-124080611-A-G c.72T>C p.D24= Synonymous 2/10 - 1
5-124080616-C-G c.67G>C p.G23R Missense 2/10 - 1
5-124080631-C-T c.52G>A p.D18N Missense 2/10 - 2
5-124080634-C-T c.49G>A p.V17I Missense 2/10 - 1
5-124080635-TG-CA c.47_48inv p.T16M Missense 2/10 - 1
5-124080642-GG-TA c.40_41delinsTA p.P14* Nonsense 2/10 - 1
5-124080646-C-A c.37G>T p.D13Y Missense 2/10 - 1
5-124080649-C-T c.34G>A p.V12M Missense 2/10 - 1
5-124080652-C-G c.31G>C p.G11R Missense 2/10 - 1
5-124080660-G-T c.23C>A p.A8E Missense 2/10 - 1
5-124080660-G-GC c.22dup p.A8Gfs*11 Frameshift 2/10 - 1
5-124080661-C-T c.22G>A p.A8T Missense 2/10 - 3
5-124080662-A-C c.21T>G p.T7= Synonymous 2/10 - 1
5-124080662-A-G c.21T>C p.T7= Synonymous 2/10 - 1
5-124080662-A-T c.21T>A p.T7= Synonymous 2/10 - 1
5-124080665-A-C c.18T>G p.S6= Synonymous 2/10 - 1
5-124080670-T-C c.13A>G p.I5V Missense 2/10 - 2
5-124080675-A-G c.8T>C p.V3A Missense 2/10 - 1
5-124080676-C-T c.7G>A p.V3M Missense 2/10 - 1
5-124080677-T-A c.6A>T p.S2= Synonymous 2/10 - 1
5-124080677-T-C c.6A>G p.S2= Synonymous 2/10 - 2
5-124080677-T-G c.6A>C p.S2= Synonymous 2/10 - 1
5-124080682-T-C c.1A>G p.M1? Missense 2/10 - 1
5-124080882-A-G c.-183-17T>C - IntergenicSNV - 1/9 1
5-124082191-G-A c.-487C>T - 5_prime_UTR_variant 1/10 - 1
5-124082191-G-T c.-487C>A - 5_prime_UTR_variant 1/10 - 1