FLT4

FLT4 fms related receptor tyrosine kinase 4

Annotation transcript: NM_182925.5

3067 unique variant annotations were identified in 1181 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
5-180028509-G-A c.*1683C>T - 3-UTRSNV 30/30 - 2
5-180028589-G-A c.*1603C>T - 3-UTRSNV 30/30 - 1
5-180028717-T-A c.*1475A>T - 3-UTRSNV 30/30 - 10
5-180028717-T-C c.*1475A>G - 3-UTRSNV 30/30 - 10
5-180028743-C-T c.*1449G>A - 3-UTRSNV 30/30 - 3
5-180029319-C-A c.*873G>T - 3-UTRSNV 30/30 - 2
5-180029471-C-G c.*721G>C - 3-UTRSNV 30/30 - 9
5-180030142-G-A c.*50C>T - 3-UTRSNV 30/30 - 1
5-180030142-G-T c.*50C>A - 3-UTRSNV 30/30 - 1
5-180030150-G-A c.*42C>T - 3-UTRSNV 30/30 - 1
5-180030150-G-C c.*42C>G - 3-UTRSNV 30/30 - 1
5-180030199-C-A c.4085G>T p.S1362I Missense 30/30 - 1
5-180030202-T-C c.4082A>G p.N1361S Missense 30/30 - 1
5-180030203-T-G c.4081A>C p.N1361H Missense 30/30 - 1
5-180030206-C-A c.4078G>T p.D1360Y Missense 30/30 - 1
5-180030207-CTGT-C c.4075_4077del p.T1359del InFrameDeletion 30/30 - 1
5-180030212-A-G c.4072T>C p.F1358L Missense 30/30 - 2
5-180030213-G-T c.4071C>A p.F1357L Missense 30/30 - 1
5-180030221-C-A c.4063G>T p.V1355L Missense 30/30 - 1
5-180030221-C-T c.4063G>A p.V1355M Missense 30/30 - 6
5-180030222-G-A c.4062C>T p.R1354= Synonymous 30/30 - 4
5-180030222-G-C c.4062C>G p.R1354= Synonymous 30/30 - 4
5-180030222-G-T c.4062C>A p.R1354= Synonymous 30/30 - 3
5-180030223-C-T c.4061G>A p.R1354H Missense 30/30 - 7
5-180030224-G-A c.4060C>T p.R1354C Missense 30/30 - 3
5-180030226-G-A c.4058C>T p.A1353V Missense 30/30 - 1
5-180030227-C-T c.4057G>A p.A1353T Missense 30/30 - 1
5-180030230-A-AC c.4053dup p.S1352Vfs*92 Frameshift 30/30 - 2
5-180030231-C-A c.4053G>T p.P1351= Synonymous 30/30 - 2
5-180030231-C-G c.4053G>C p.P1351= Synonymous 30/30 - 2
5-180030231-C-T c.4053G>A p.P1351= Synonymous 30/30 - 6
5-180030232-G-A c.4052C>T p.P1351L Missense 30/30 - 1
5-180030234-G-A c.4050C>T p.S1350= Synonymous 30/30 - 3
5-180030234-G-C c.4050C>G p.S1350= Synonymous 30/30 - 1
5-180030234-G-T c.4050C>A p.S1350= Synonymous 30/30 - 1
5-180030231-C-CG c.4052dup p.S1352Vfs*92 Frameshift 30/30 - 1
5-180030235-G-A c.4049C>T p.S1350F Missense 30/30 - 1
5-180030235-G-T c.4049C>A p.S1350Y Missense 30/30 - 3
5-180030243-G-T c.4041C>A p.D1347E Missense 30/30 - 1
5-180030248-C-T c.4036G>A p.E1346K Missense 30/30 - 1
5-180030251-C-T c.4033G>A p.E1345K Missense 30/30 - 9
5-180030252-G-C c.4032C>G p.S1344R Missense 30/30 - 1
5-180030252-G-T c.4032C>A p.S1344R Missense 30/30 - 1
5-180030254-T-G c.4030A>C p.S1344R Missense 30/30 - 1
5-180030253-C-T c.4031G>A p.S1344N Missense 30/30 - 2
5-180030256-G-T c.4028C>A p.P1343Q Missense 30/30 - 2
5-180030261-C-T c.4023G>A p.S1341= Synonymous 30/30 - 2
5-180030262-G-A c.4022C>T p.S1341L Missense 30/30 - 3
5-180030263-A-C c.4021T>G p.S1341A Missense 30/30 - 1
5-180030269-C-A c.4015G>T p.E1339* Nonsense 30/30 - 1
5-180030269-C-T c.4015G>A p.E1339K Missense 30/30 - 5
5-180030273-CA-C c.4011del p.Y1337* Frameshift 30/30 - 3
5-180030274-T-C c.4010A>G p.Y1337C Missense 30/30 - 1
5-180030278-C-T c.4006G>A p.E1336K Missense 30/30 - 9
5-180030279-G-A c.4005C>T p.S1335= Synonymous 30/30 - 1
5-180030280-C-T c.4004G>A p.S1335N Missense 30/30 - 3
5-180030285-G-C c.3999C>G p.Y1333* Nonsense 30/30 - 1
5-180030285-G-T c.3999C>A p.Y1333* Nonsense 30/30 - 1
5-180030287-A-G c.3997T>C p.Y1333H Missense 30/30 - 2
5-180030293-C-T c.3991G>A p.V1331M Missense 30/30 - 1
5-180030295-T-C c.3989A>G p.Q1330R Missense 30/30 - 2
5-180030296-G-C c.3988C>G p.Q1330E Missense 30/30 - 2
5-180030297-G-A c.3987C>T p.G1329= Synonymous 30/30 - 1
5-180030299-C-T c.3985G>A p.G1329S Missense 30/30 - 5
5-180030300-T-C c.3984A>G p.G1328= Synonymous 30/30 - 1
5-180030300-TC-GT c.3983_3984delinsAC p.G1328D Missense 30/30 - 1
5-180030301-C-A c.3983G>T p.G1328V Missense 30/30 - 3
5-180030301-C-T c.3983G>A p.G1328E Missense 30/30 - 4
5-180030306-G-A c.3978C>T p.A1326= Synonymous 30/30 - 3
5-180030306-G-C c.3978C>G p.A1326= Synonymous 30/30 - 3
5-180030306-G-T c.3978C>A p.A1326= Synonymous 30/30 - 5
5-180030311-C-T c.3973G>A p.G1325R Missense 30/30 - 1
5-180030307-G-GC c.3976dup p.A1326Gfs*118 Frameshift 30/30 - 1
5-180030313-C-A c.3971G>T p.R1324L Missense 30/30 - 41
5-180030313-C-G c.3971G>C p.R1324P Missense 30/30 - 28
5-180030313-C-T c.3971G>A p.R1324Q Missense 30/30 - 22
5-180030314-G-T c.3970C>A p.R1324= Synonymous 30/30 - 1
5-180030315-C-A c.3969G>T p.E1323D Missense 30/30 - 2
5-180030317-C-G c.3967G>C p.E1323Q Missense 30/30 - 2
5-180030317-C-T c.3967G>A p.E1323K Missense 30/30 - 3
5-180030319-G-T c.3965C>A p.P1322H Missense 30/30 - 3
5-180030320-G-A c.3964C>T p.P1322S Missense 30/30 - 1
5-180030321-C-T c.3963G>A p.R1321= Synonymous 30/30 - 1
5-180030322-C-A c.3962G>T p.R1321L Missense 30/30 - 1
5-180030322-C-T c.3962G>A p.R1321Q Missense 30/30 - 12
5-180030323-G-A c.3961C>T p.R1321W Missense 30/30 - 1
5-180030325-C-T c.3959G>A p.R1320Q Missense 30/30 - 4
5-180030326-G-A c.3958C>T p.R1320W Missense 30/30 - 8
5-180030328-C-T c.3956G>A p.R1319Q Missense 30/30 - 3
5-180030329-G-A c.3955C>T p.R1319W Missense 30/30 - 1
5-180030330-CCT-ACA c.3952_3954delinsTGT p.R1318C Missense 30/30 - 1
5-180030334-C-T c.3950G>A p.G1317E Missense 30/30 - 2
5-180030335-C-G c.3949G>C p.G1317R Missense 30/30 - 1
5-180030335-C-T c.3949G>A p.G1317R Missense 30/30 - 1
5-180030336-T-A c.3948A>T p.Q1316H Missense 30/30 - 1
5-180030336-T-G c.3948A>C p.Q1316H Missense 30/30 - 2
5-180030338-G-T c.3946C>A p.Q1316K Missense 30/30 - 1
5-180030339-G-A c.3945C>T p.S1315= Synonymous 30/30 - 2
5-180030340-GA-AG c.3943_3944delinsCT p.S1315L Missense 30/30 - 1
5-180030342-G-A c.3942C>T p.D1314= Synonymous 30/30 - 2
5-180030343-T-G c.3941A>C p.D1314A Missense 30/30 - 1
5-180030345-A-T c.3939T>A p.P1313= Synonymous 30/30 - 1
5-180030346-G-A c.3938C>T p.P1313L Missense 30/30 - 1
5-180030347-G-T c.3937C>A p.P1313T Missense 30/30 - 1
5-180030348-G-C c.3936C>G p.H1312Q Missense 30/30 - 1
5-180030348-G-T c.3936C>A p.H1312Q Missense 30/30 - 1
5-180030353-C-T c.3931G>A p.A1311T Missense 30/30 - 1
5-180030354-C-A c.3930G>T p.R1310S Missense 30/30 - 1
5-180030357-G-A c.3927C>T p.T1309= Synonymous 30/30 - 1
5-180030362-C-A c.3922G>T p.V1308L Missense 30/30 - 1
5-180030365-C-A c.3919G>T p.A1307S Missense 30/30 - 1
5-180030369-A-T c.3915T>A p.N1305K Missense 30/30 - 1
5-180030376-C-G c.3908G>C p.G1303A Missense 30/30 - 9
5-180030377-C-T c.3907G>A p.G1303S Missense 30/30 - 1
5-180030380-G-A c.3904C>T p.P1302S Missense 30/30 - 2
5-180030382-C-T c.3902G>A p.G1301E Missense 30/30 - 1
5-180030383-C-T c.3901G>A p.G1301R Missense 30/30 - 2
5-180030384-T-TG c.3899_3900insC p.K1300Nfs*15 Frameshift 30/30 - 1
5-180030385-T-A c.3899A>T p.K1300I Missense 30/30 - 1
5-180030390-G-A c.3894C>T p.S1298= Synonymous 30/30 - 1
5-180030476-C-T c.3894-86G>A - IntronicSNV - 29/29 1
5-180030486-C-T c.3894-96G>A - IntronicSNV - 29/29 1
5-180030519-C-T c.3894-129G>A - IntronicSNV - 29/29 3
5-180031131-C-T c.3894-741G>A - IntronicSNV - 29/29 1
5-180032263-G-A c.3894-1873C>T - IntronicSNV - 29/29 1
5-180032500-G-C c.3894-2110C>G - IntronicSNV - 29/29 1
5-180032684-C-G c.3894-2294G>C - IntronicSNV - 29/29 1
5-180032885-A-G c.3894-2495T>C - IntronicSNV - 29/29 1
5-180033031-G-A c.3894-2641C>T - IntronicSNV - 29/29 1
5-180033031-G-C c.3894-2641C>G - IntronicSNV - 29/29 1
5-180033639-T-A c.3893+2329A>T - IntronicSNV - 29/29 1
5-180033639-T-C c.3893+2329A>G - IntronicSNV - 29/29 1
5-180033806-C-T c.3893+2162G>A - IntronicSNV - 29/29 1
5-180034823-T-C c.3893+1145A>G - IntronicSNV - 29/29 2
5-180035069-G-A c.3893+899C>T - IntronicSNV - 29/29 2
5-180035104-C-T c.3893+864G>A - IntronicSNV - 29/29 1
5-180035127-C-T c.3893+841G>A - IntronicSNV - 29/29 1
5-180035154-G-C c.3893+814C>G - IntronicSNV - 29/29 1
5-180035157-C-T c.3893+811G>A - IntronicSNV - 29/29 1
5-180035182-CAGT-C c.3893+783_3893+785del - IntronicDeletion - 29/29 1
5-180035262-TTC-T c.3893+704_3893+705del - IntronicDeletion - 29/29 1
5-180035347-C-T c.3893+621G>A - IntronicSNV - 29/29 2
5-180035447-G-T c.3893+521C>A - IntronicSNV - 29/29 1
5-180035504-C-T c.3893+464G>A - IntronicSNV - 29/29 1
5-180035792-C-T c.3893+176G>A - IntronicSNV - 29/29 1
5-180035841-C-T c.3893+127G>A - IntronicSNV - 29/29 1
5-180035886-G-T c.3893+82C>A - IntronicSNV - 29/29 1
5-180035903-G-T c.3893+65C>A - IntronicSNV - 29/29 1
5-180035970-G-T c.3891C>A p.F1297L Missense 29/30 - 1
5-180035970-GA-G c.3890del p.F1297Sfs*12 Frameshift 29/30 - 1
5-180035973-G-A c.3888C>T p.G1296= Synonymous 29/30 - 1
5-180035973-G-C c.3888C>G p.G1296= Synonymous 29/30 - 1
5-180035973-G-T c.3888C>A p.G1296= Synonymous 29/30 - 1
5-180035974-C-G c.3887G>C p.G1296A Missense 29/30 - 1
5-180035975-C-T c.3886G>A p.G1296S Missense 29/30 - 2
5-180035976-G-A c.3885C>T p.S1295= Synonymous 29/30 - 2
5-180035976-G-C c.3885C>G p.S1295R Missense 29/30 - 1
5-180035976-G-T c.3885C>A p.S1295R Missense 29/30 - 1
5-180035978-T-G c.3883A>C p.S1295R Missense 29/30 - 1
5-180035977-C-T c.3884G>A p.S1295N Missense 29/30 - 3
5-180035984-G-C c.3877C>G p.Q1293E Missense 29/30 - 2
5-180035985-T-A c.3876A>T p.R1292S Missense 29/30 - 1
5-180035985-T-G c.3876A>C p.R1292S Missense 29/30 - 1
5-180035986-CT-TG c.3874_3875delinsCA p.R1292Q Missense 29/30 - 1
5-180035987-T-C c.3874A>G p.R1292G Missense 29/30 - 1
5-180035990-G-A c.3871C>T p.H1291Y Missense 29/30 - 1
5-180035990-G-T c.3871C>A p.H1291N Missense 29/30 - 2
5-180035992-C-A c.3869G>T p.R1290M Missense 29/30 - 1
5-180035992-C-T c.3869G>A p.R1290K Missense 29/30 - 1
5-180035994-G-A c.3867C>T p.S1289= Synonymous 29/30 - 5
5-180035994-G-C c.3867C>G p.S1289R Missense 29/30 - 3
5-180035994-G-T c.3867C>A p.S1289R Missense 29/30 - 1
5-180035996-T-G c.3865A>C p.S1289R Missense 29/30 - 1
5-180035996-T-C c.3865A>G p.S1289G Missense 29/30 - 1
5-180035997-C-T c.3864G>A p.E1288= Synonymous 29/30 - 3
5-180035999-C-T c.3862G>A p.E1288K Missense 29/30 - 3
5-180036003-C-A c.3858G>T p.Q1286H Missense 29/30 - 1
5-180036003-C-G c.3858G>C p.Q1286H Missense 29/30 - 1
5-180036002-TCTG-T c.3856_3858del p.Q1286del InFrameDeletion 29/30 - 1
5-180036005-G-C c.3856C>G p.Q1286E Missense 29/30 - 2
5-180036005-G-T c.3856C>A p.Q1286K Missense 29/30 - 2
5-180036006-C-T c.3855G>A p.E1285= Synonymous 29/30 - 1
5-180036008-C-T c.3853G>A p.E1285K Missense 29/30 - 1
5-180036009-A-G c.3852T>C p.F1284= Synonymous 29/30 - 1
5-180036014-C-A c.3847G>T p.E1283* Nonsense 29/30 - 2
5-180036014-C-T c.3847G>A p.E1283K Missense 29/30 - 1
5-180036015-C-A c.3846G>T p.E1282D Missense 29/30 - 1
5-180036015-C-T c.3846G>A p.E1282= Synonymous 29/30 - 1
5-180036016-T-C c.3845A>G p.E1282G Missense 29/30 - 1
5-180036017-C-T c.3844G>A p.E1282K Missense 29/30 - 1
5-180036020-A-G c.3841T>C p.S1281P Missense 29/30 - 1
5-180036020-AG-A c.3840del p.S1281Rfs*7 Frameshift 29/30 - 1
5-180036027-C-A c.3834G>T p.V1278= Synonymous 29/30 - 2
5-180036028-A-G c.3833T>C p.V1278A Missense 29/30 - 1
5-180036030-C-T c.3831G>A p.M1277I Missense 29/30 - 1
5-180036033-C-T c.3828G>A p.G1276= Synonymous 29/30 - 3
5-180036034-C-T c.3827G>A p.G1276E Missense 29/30 - 1
5-180036035-C-A c.3826G>T p.G1276W Missense 29/30 - 1
5-180036037-C-T c.3824G>A p.S1275N Missense 29/30 - 1
5-180036038-T-C c.3823A>G p.S1275G Missense 29/30 - 1
5-180036040-T-A c.3821A>T p.D1274V Missense 29/30 - 1
5-180036041-C-A c.3820G>T p.D1274Y Missense 29/30 - 2
5-180036041-C-CT c.3819dup p.D1274Rfs*12 Frameshift 29/30 - 2
5-180036043-G-C c.3818C>G p.T1273R Missense 29/30 - 1
5-180036044-T-C c.3817A>G p.T1273A Missense 29/30 - 1
5-180036046-T-C c.3815A>G p.Q1272R Missense 29/30 - 2
5-180036050-T-C c.3811A>G p.N1271D Missense 29/30 - 1
5-180036052-T-C c.3809A>G p.D1270G Missense 29/30 - 1
5-180036318-A-G c.3808-265T>C - IntronicSNV - 28/29 2
5-180036799-A-G c.3807+106T>C - IntronicSNV - 28/29 1
5-180036871-C-A c.3807+34G>T - IntronicSNV - 28/29 3
5-180036871-C-G c.3807+34G>C - IntronicSNV - 28/29 7
5-180036871-C-T c.3807+34G>A - IntronicSNV - 28/29 3
5-180036905-C-A c.3807G>T p.V1269= Synonymous 28/30 - 3
5-180036905-C-G c.3807G>C p.V1269= Synonymous 28/30 - 1
5-180036905-C-T c.3807G>A p.V1269= Synonymous 28/30 - 1
5-180036907-C-G c.3805G>C p.V1269L Missense 28/30 - 1
5-180036913-C-A c.3799G>T p.G1267C Missense 28/30 - 1
5-180036913-C-T c.3799G>A p.G1267S Missense 28/30 - 2
5-180036914-T-TG c.3797_3798insC p.K1266Nfs*20 Frameshift 28/30 - 1
5-180036916-T-A c.3796A>T p.K1266* Nonsense 28/30 - 1
5-180036916-T-C c.3796A>G p.K1266E Missense 28/30 - 1
5-180036921-G-A c.3791C>T p.T1264I Missense 28/30 - 1
5-180036923-C-A c.3789G>T p.T1263= Synonymous 28/30 - 1
5-180036924-G-A c.3788C>T p.T1263M Missense 28/30 - 4
5-180036928-G-A c.3784C>T p.P1262S Missense 28/30 - 1
5-180036936-G-T c.3776C>A p.P1259H Missense 28/30 - 1
5-180036937-G-A c.3775C>T p.P1259S Missense 28/30 - 1
5-180036938-G-A c.3774C>T p.F1258= Synonymous 28/30 - 2
5-180036939-A-T c.3773T>A p.F1258Y Missense 28/30 - 1
5-180036942-T-G c.3770A>C p.E1257A Missense 28/30 - 1
5-180036946-C-G c.3766G>C p.E1256Q Missense 28/30 - 2
5-180036946-C-T c.3766G>A p.E1256K Missense 28/30 - 2
5-180036951-G-A c.3761C>T p.T1254I Missense 28/30 - 3
5-180036959-C-A c.3753G>T p.R1251S Missense 28/30 - 1
5-180036959-C-T c.3753G>A p.R1251= Synonymous 28/30 - 2
5-180036961-T-C c.3751A>G p.R1251G Missense 28/30 - 1
5-180036963-GA-AT c.3748_3749delinsAT p.S1250I Missense 28/30 - 1
5-180036963-G-C c.3749C>G p.S1250C Missense 28/30 - 1
5-180036964-A-G c.3748T>C p.S1250P Missense 28/30 - 1
5-180036966-G-A c.3746C>T p.S1249F Missense 28/30 - 8
5-180036966-G-T c.3746C>A p.S1249Y Missense 28/30 - 2
5-180036967-A-T c.3745T>A p.S1249T Missense 28/30 - 1
5-180036969-C-T c.3743G>A p.G1248D Missense 28/30 - 1
5-180036968-AC-A c.3743del p.G1248Vfs*5 Frameshift 28/30 - 1
5-180036971-A-G c.3741T>C p.R1247= Synonymous 28/30 - 1
5-180036972-C-T c.3740G>A p.R1247H Missense 28/30 - 1
5-180036978-T-C c.3734A>G p.E1245G Missense 28/30 - 3
5-180036981-G-A c.3731C>T p.A1244V Missense 28/30 - 6
5-180036983-C-T c.3729G>A p.G1243= Synonymous 28/30 - 3
5-180036989-G-A c.3723C>T p.A1241= Synonymous 28/30 - 1
5-180036991-C-A c.3721G>T p.A1241S Missense 28/30 - 1
5-180036991-C-T c.3721G>A p.A1241T Missense 28/30 - 1
5-180036994-G-A c.3718C>T p.L1240= Synonymous 28/30 - 1
5-180036995-G-T c.3717C>A p.C1239* Nonsense 28/30 - 1
5-180036996-C-A c.3716G>T p.C1239F Missense 28/30 - 2
5-180036999-C-A c.3713G>T p.G1238V Missense 28/30 - 2
5-180036999-CC-AG c.3712_3713delinsCT p.G1238L Missense 28/30 - 1
5-180036999-C-T c.3713G>A p.G1238E Missense 28/30 - 1
5-180037000-C-A c.3712G>T p.G1238W Missense 28/30 - 2
5-180037000-C-G c.3712G>C p.G1238R Missense 28/30 - 1
5-180037000-C-T c.3712G>A p.G1238R Missense 28/30 - 3
5-180037002-G-A c.3710C>T p.P1237L Missense 28/30 - 4
5-180037003-G-A c.3709C>T p.P1237S Missense 28/30 - 2
5-180037008-G-C c.3704C>G p.S1235C Missense 28/30 - 2
5-180037009-A-G c.3703T>C p.S1235P Missense 28/30 - 1
5-180037011-A-G c.3701T>C p.V1234A Missense 28/30 - 1
5-180037012-C-A c.3700G>T p.V1234L Missense 28/30 - 1
5-180037012-C-G c.3700G>C p.V1234L Missense 28/30 - 1
5-180037012-C-T c.3700G>A p.V1234M Missense 28/30 - 1
5-180037013-C-A c.3699G>T p.W1233C Missense 28/30 - 1
5-180037013-C-G c.3699G>C p.W1233C Missense 28/30 - 1
5-180037013-C-T c.3699G>A p.W1233* Nonsense 28/30 - 2
5-180037016-G-A c.3696C>T p.N1232= Synonymous 28/30 - 1
5-180037017-T-C c.3695A>G p.N1232S Missense 28/30 - 1
5-180037017-T-G c.3695A>C p.N1232T Missense 28/30 - 1
5-180037023-T-C c.3689A>G p.Y1230C Missense 28/30 - 2
5-180037024-A-G c.3688T>C p.Y1230H Missense 28/30 - 2
5-180037059-C-T c.3687-34G>A - IntronicSNV - 27/29 1
5-180037317-C-G c.3687-292G>C - IntronicSNV - 27/29 1
5-180037317-C-T c.3687-292G>A - IntronicSNV - 27/29 1
5-180038248-T-C c.3686+83A>G - IntronicSNV - 27/29 1
5-180038248-T-TC c.3686+82dup - IntronicInsertion - 27/29 6
5-180038283-C-T c.3686+48G>A - IntronicSNV - 27/29 1
5-180038323-C-T c.3686+8G>A - IntronicSNV - 27/29 1
5-180038334-G-A c.3683C>T p.A1228V Missense 27/30 - 1
5-180038335-C-T c.3682G>A p.A1228T Missense 27/30 - 5
5-180038336-G-A c.3681C>T p.A1227= Synonymous 27/30 - 1
5-180038338-C-A c.3679G>T p.A1227S Missense 27/30 - 1
5-180038345-G-C c.3672C>G p.H1224Q Missense 27/30 - 1
5-180038346-T-C c.3671A>G p.H1224R Missense 27/30 - 1
5-180038349-C-T c.3668G>A p.R1223H Missense 27/30 - 6
5-180038350-G-A c.3667C>T p.R1223C Missense 27/30 - 4
5-180038351-C-A c.3666G>T p.Q1222H Missense 27/30 - 1
5-180038351-C-G c.3666G>C p.Q1222H Missense 27/30 - 1
5-180038356-G-A c.3661C>T p.L1221= Synonymous 27/30 - 1
5-180038357-G-C c.3660C>G p.S1220R Missense 27/30 - 1
5-180038358-C-T c.3659G>A p.S1220N Missense 27/30 - 1
5-180038362-G-A c.3655C>T p.P1219S Missense 27/30 - 3
5-180038362-G-T c.3655C>A p.P1219T Missense 27/30 - 1
5-180038363-C-A c.3654G>T p.P1218= Synonymous 27/30 - 1
5-180038363-C-G c.3654G>C p.P1218= Synonymous 27/30 - 1
5-180038363-C-T c.3654G>A p.P1218= Synonymous 27/30 - 2
5-180038364-G-A c.3653C>T p.P1218L Missense 27/30 - 2
5-180038364-G-C c.3653C>G p.P1218R Missense 27/30 - 2
5-180038364-G-T c.3653C>A p.P1218Q Missense 27/30 - 1
5-180038369-G-C c.3648C>G p.D1216E Missense 27/30 - 1
5-180038369-G-T c.3648C>A p.D1216E Missense 27/30 - 1
5-180038371-C-A c.3646G>T p.D1216Y Missense 27/30 - 1
5-180038374-C-T c.3643G>A p.E1215K Missense 27/30 - 1
5-180038376-G-C c.3641C>G p.A1214G Missense 27/30 - 1
5-180038376-G-GC c.3640dup p.A1214Gfs*2 Frameshift 27/30 - 1
5-180038377-C-A c.3640G>T p.A1214S Missense 27/30 - 2
5-180038377-C-T c.3640G>A p.A1214T Missense 27/30 - 3
5-180038378-G-A c.3639C>T p.D1213= Synonymous 27/30 - 2
5-180038380-C-T c.3637G>A p.D1213N Missense 27/30 - 1
5-180038381-A-G c.3636T>C p.A1212= Synonymous 27/30 - 1
5-180038382-G-C c.3635C>G p.A1212G Missense 27/30 - 1
5-180038383-C-T c.3634G>A p.A1212T Missense 27/30 - 2
5-180038384-C-T c.3633G>A p.Q1211= Synonymous 27/30 - 2
5-180038386-G-T c.3631C>A p.Q1211K Missense 27/30 - 1
5-180038388-G-T c.3629C>A p.A1210D Missense 27/30 - 1
5-180038389-C-T c.3628G>A p.A1210T Missense 27/30 - 2
5-180038390-G-A c.3627C>T p.I1209= Synonymous 27/30 - 1
5-180038392-T-C c.3625A>G p.I1209V Missense 27/30 - 1
5-180038394-T-C c.3623A>G p.H1208R Missense 27/30 - 1
5-180038401-C-T c.3616G>A p.A1206T Missense 27/30 - 1
5-180038407-T-C c.3610A>G p.T1204A Missense 27/30 - 2
5-180038408-G-A c.3609C>T p.S1203= Synonymous 27/30 - 1
5-180038409-G-A c.3608C>T p.S1203F Missense 27/30 - 2
5-180038415-T-G c.3602A>C p.Q1201P Missense 27/30 - 2
5-180038416-G-T c.3601C>A p.Q1201K Missense 27/30 - 1
5-180038417-C-A c.3600G>T p.S1200= Synonymous 27/30 - 1
5-180038417-C-G c.3600G>C p.S1200= Synonymous 27/30 - 1
5-180038417-C-T c.3600G>A p.S1200= Synonymous 27/30 - 1
5-180038418-G-A c.3599C>T p.S1200L Missense 27/30 - 1
5-180038418-G-T c.3599C>A p.S1200* Nonsense 27/30 - 1
5-180038422-A-C c.3595T>G p.F1199V Missense 27/30 - 1
5-180038423-G-C c.3594C>G p.S1198R Missense 27/30 - 4
5-180038423-G-T c.3594C>A p.S1198R Missense 27/30 - 3
5-180038425-T-G c.3592A>C p.S1198R Missense 27/30 - 3
5-180038428-C-A c.3589G>T p.G1197C Missense 27/30 - 1
5-180038428-C-G c.3589G>C p.G1197R Missense 27/30 - 1
5-180038432-T-G c.3585A>C p.E1195D Missense 27/30 - 1
5-180038431-C-CT c.3585dup p.E1196Rfs*18 Frameshift 27/30 - 1
5-180038433-T-A c.3584A>T p.E1195V Missense 27/30 - 1
5-180038434-C-G c.3583G>C p.E1195Q Missense 27/30 - 1
5-180038434-C-T c.3583G>A p.E1195K Missense 27/30 - 4
5-180038436-G-A c.3581C>T p.S1194L Missense 27/30 - 1
5-180038439-C-T c.3578G>A p.S1193N Missense 27/30 - 1
5-180038441-C-A c.3576G>T p.Q1192H Missense 27/30 - 3
5-180038441-C-G c.3576G>C p.Q1192H Missense 27/30 - 3
5-180038443-G-A c.3574C>T p.Q1192* Nonsense 27/30 - 4
5-180038443-G-C c.3574C>G p.Q1192E Missense 27/30 - 2
5-180038445-G-A c.3572C>T p.S1191F Missense 27/30 - 1
5-180038451-C-T c.3566G>A p.R1189H Missense 27/30 - 3
5-180038452-G-A c.3565C>T p.R1189C Missense 27/30 - 6
5-180038452-G-T c.3565C>A p.R1189S Missense 27/30 - 1
5-180038453-C-A c.3564G>T p.P1188= Synonymous 27/30 - 1
5-180038453-C-T c.3564G>A p.P1188= Synonymous 27/30 - 1
5-180038455-G-A c.3562C>T p.P1188S Missense 27/30 - 1
5-180038457-G-T c.3560C>A p.A1187D Missense 27/30 - 1
5-180038461-T-A c.3556A>T p.M1186L Missense 27/30 - 2
5-180038461-T-C c.3556A>G p.M1186V Missense 27/30 - 1
5-180038463-C-A c.3554G>T p.C1185F Missense 27/30 - 1
5-180038468-C-A c.3549G>T p.E1183D Missense 27/30 - 1
5-180038468-C-G c.3549G>C p.E1183D Missense 27/30 - 1
5-180038476-C-T c.3541G>A p.E1181K Missense 27/30 - 2
5-180038477-C-A c.3540G>T p.E1180D Missense 27/30 - 1
5-180038478-T-C c.3539A>G p.E1180G Missense 27/30 - 1
5-180038479-C-G c.3538G>C p.E1180Q Missense 27/30 - 2
5-180038545-A-C c.3538-66T>G - IntronicSNV - 26/29 2
5-180038545-A-G c.3538-66T>C - IntronicSNV - 26/29 2
5-180038545-A-T c.3538-66T>A - IntronicSNV - 26/29 2
5-180038614-C-G c.3538-135G>C - IntronicSNV - 26/29 1
5-180038614-C-T c.3538-135G>A - IntronicSNV - 26/29 1
5-180039187-A-G c.3537+319T>C - IntronicSNV - 26/29 1
5-180039421-A-T c.3537+85T>A - IntronicSNV - 26/29 1
5-180039504-A-G c.3537+2T>C - IntronicSNV - 26/29 1
5-180039504-A-T c.3537+2T>A - IntronicSNV - 26/29 1
5-180039507-T-C c.3536A>G p.Q1179R Missense 26/30 - 1
5-180039508-G-A c.3535C>T p.Q1179* Nonsense 26/30 - 1
5-180039508-TGC-T c.3534_3535del p.Q1179Rfs*34 Frameshift 26/30 - 1
5-180039510-A-T c.3533T>A p.L1178Q Missense 26/30 - 1
5-180039512-G-C c.3531C>G p.G1177= Synonymous 26/30 - 4
5-180039514-C-G c.3529G>C p.G1177R Missense 26/30 - 1
5-180039514-C-T c.3529G>A p.G1177S Missense 26/30 - 3
5-180039515-CCT-ACA c.3526_3528delinsTGT p.R1176C Missense 26/30 - 1
5-180039512-G-GC c.3530dup p.L1178Pfs*36 Frameshift 26/30 - 1
5-180039518-G-A c.3525C>T p.G1175= Synonymous 26/30 - 2
5-180039518-G-C c.3525C>G p.G1175= Synonymous 26/30 - 1
5-180039518-G-T c.3525C>A p.G1175= Synonymous 26/30 - 1
5-180039519-C-A c.3524G>T p.G1175V Missense 26/30 - 1
5-180039519-C-G c.3524G>C p.G1175A Missense 26/30 - 1
5-180039519-C-T c.3524G>A p.G1175D Missense 26/30 - 2
5-180039521-C-G c.3522G>C p.Q1174H Missense 26/30 - 2
5-180039521-C-T c.3522G>A p.Q1174= Synonymous 26/30 - 2
5-180039522-T-A c.3521A>T p.Q1174L Missense 26/30 - 1
5-180039526-G-C c.3517C>G p.L1173V Missense 26/30 - 2
5-180039532-C-T c.3511G>A p.D1171N Missense 26/30 - 3
5-180039533-C-A c.3510G>T p.G1170= Synonymous 26/30 - 1
5-180039533-C-G c.3510G>C p.G1170= Synonymous 26/30 - 1
5-180039533-C-T c.3510G>A p.G1170= Synonymous 26/30 - 2
5-180039534-C-A c.3509G>T p.G1170V Missense 26/30 - 1
5-180039534-C-G c.3509G>C p.G1170A Missense 26/30 - 1
5-180039535-C-T c.3508G>A p.G1170R Missense 26/30 - 1
5-180039539-G-A c.3504C>T p.I1168= Synonymous 26/30 - 3
5-180039544-C-A c.3499G>T p.E1167* Nonsense 26/30 - 1
5-180039546-A-G c.3497T>C p.V1166A Missense 26/30 - 1
5-180039547-C-T c.3496G>A p.V1166M Missense 26/30 - 1
5-180039553-C-T c.3490G>A p.E1164K Missense 26/30 - 1
5-180039554-C-T c.3489G>A p.S1163= Synonymous 26/30 - 3
5-180039555-G-C c.3488C>G p.S1163W Missense 26/30 - 1
5-180039557-G-A c.3486C>T p.F1162= Synonymous 26/30 - 1
5-180039557-G-C c.3486C>G p.F1162L Missense 26/30 - 1
5-180039564-G-A c.3479C>T p.P1160L Missense 26/30 - 1
5-180039566-T-C c.3477A>G p.R1159= Synonymous 26/30 - 2
5-180039568-T-G c.3475A>C p.R1159= Synonymous 26/30 - 1
5-180039569-C-A c.3474G>T p.A1158= Synonymous 26/30 - 1
5-180039569-C-G c.3474G>C p.A1158= Synonymous 26/30 - 1
5-180039569-C-T c.3474G>A p.A1158= Synonymous 26/30 - 2
5-180039570-G-A c.3473C>T p.A1158V Missense 26/30 - 5
5-180039570-G-C c.3473C>G p.A1158G Missense 26/30 - 1
5-180039582-C-A c.3461G>T p.G1154V Missense 26/30 - 1
5-180039582-C-G c.3461G>C p.G1154A Missense 26/30 - 1
5-180039582-C-T c.3461G>A p.G1154E Missense 26/30 - 1
5-180039583-C-G c.3460G>C p.G1154R Missense 26/30 - 1
5-180039583-C-T c.3460G>A p.G1154R Missense 26/30 - 5
5-180039584-G-A c.3459C>T p.S1153= Synonymous 26/30 - 3
5-180039584-G-C c.3459C>G p.S1153= Synonymous 26/30 - 1
5-180039584-G-T c.3459C>A p.S1153= Synonymous 26/30 - 1
5-180039585-G-T c.3458C>A p.S1153Y Missense 26/30 - 1
5-180039587-C-A c.3456G>T p.W1152C Missense 26/30 - 1
5-180039587-C-G c.3456G>C p.W1152C Missense 26/30 - 2
5-180039587-C-T c.3456G>A p.W1152* Nonsense 26/30 - 1
5-180039588-C-T c.3455G>A p.W1152* Nonsense 26/30 - 1
5-180039591-C-A c.3452G>T p.C1151F Missense 26/30 - 1
5-180039591-C-T c.3452G>A p.C1151Y Missense 26/30 - 1
5-180039595-T-G c.3448A>C p.N1150H Missense 26/30 - 1
5-180039595-T-TGAGG c.3447_3448insCCTC p.N1150Pfs*65 Frameshift 26/30 - 1
5-180039594-TTCAGCA-T c.3443_3448del p.M1148_L1149del InFrameDeletion 26/30 - 1
5-180039598-G-GGAGAATGGTGTGAAC c.3444_3445insGTTCACACCATTCTC p.M1148_L1149insVHTIL InFrameInsertion 26/30 - 1
5-180039601-T-A c.3442A>T p.M1148L Missense 26/30 - 1
5-180039605-G-A c.3438C>T p.R1146= Synonymous 26/30 - 1
5-180039605-G-C c.3438C>G p.R1146= Synonymous 26/30 - 1
5-180039605-G-T c.3438C>A p.R1146= Synonymous 26/30 - 1
5-180039606-C-T c.3437G>A p.R1146H Missense 26/30 - 19
5-180039607-G-A c.3436C>T p.R1146C Missense 26/30 - 2
5-180039608-GCG-CCA c.3433_3435delinsTGG p.R1145W Missense 26/30 - 1
5-180039609-C-A c.3434G>T p.R1145L Missense 26/30 - 2
5-180039609-C-T c.3434G>A p.R1145H Missense 26/30 - 3
5-180039610-G-A c.3433C>T p.R1145C Missense 26/30 - 4
5-180039611-T-C c.3432A>G p.I1144M Missense 26/30 - 6
5-180039655-C-G c.3432-44G>C - IntronicSNV - 25/29 1
5-180039655-C-T c.3432-44G>A - IntronicSNV - 25/29 1
5-180039974-C-T c.3431+37G>A - IntronicSNV - 25/29 1
5-180040011-A-T c.3431T>A p.I1144K Missense 25/30 - 1
5-180040012-T-C c.3430A>G p.I1144V Missense 25/30 - 1
5-180040014-G-C c.3428C>G p.A1143G Missense 25/30 - 1
5-180040015-C-T c.3427G>A p.A1143T Missense 25/30 - 7
5-180040016-G-A c.3426C>T p.P1142= Synonymous 25/30 - 1
5-180040016-G-T c.3426C>A p.P1142= Synonymous 25/30 - 2
5-180040017-G-A c.3425C>T p.P1142L Missense 25/30 - 2
5-180040018-G-A c.3424C>T p.P1142S Missense 25/30 - 1
5-180040020-G-C c.3422C>G p.T1141S Missense 25/30 - 1
5-180040020-G-T c.3422C>A p.T1141N Missense 25/30 - 1
5-180040024-C-T c.3418G>A p.A1140T Missense 25/30 - 1
5-180040027-G-A c.3415C>T p.L1139= Synonymous 25/30 - 1
5-180040030-C-A c.3412G>T p.E1138* Nonsense 25/30 - 1
5-180040029-T-TC c.3412dup p.E1138Gfs*76 Frameshift 25/30 - 1
5-180040032-G-A c.3410C>T p.P1137L Missense 25/30 - 14
5-180040032-G-T c.3410C>A p.P1137Q Missense 25/30 - 1
5-180040033-G-A c.3409C>T p.P1137S Missense 25/30 - 3
5-180040034-G-A c.3408C>T p.A1136= Synonymous 25/30 - 2
5-180040034-G-C c.3408C>G p.A1136= Synonymous 25/30 - 1
5-180040034-G-T c.3408C>A p.A1136= Synonymous 25/30 - 1
5-180040037-C-A c.3405G>T p.R1135S Missense 25/30 - 1
5-180040037-C-G c.3405G>C p.R1135S Missense 25/30 - 1
5-180040035-GC-G c.3406del p.A1136Pfs*14 Frameshift 25/30 - 1
5-180040043-CCT-ACA c.3397_3399delinsTGT p.R1133C Missense 25/30 - 1
5-180040044-C-T c.3398G>A p.R1133K Missense 25/30 - 1
5-180040044-CT-TA c.3397_3398delinsTA p.R1133* Nonsense 25/30 - 1
5-180040048-T-C c.3394A>G p.T1132A Missense 25/30 - 1
5-180040049-G-A c.3393C>T p.G1131= Synonymous 25/30 - 2
5-180040049-G-C c.3393C>G p.G1131= Synonymous 25/30 - 1
5-180040049-G-T c.3393C>A p.G1131= Synonymous 25/30 - 1
5-180040050-C-T c.3392G>A p.G1131D Missense 25/30 - 1
5-180040051-C-G c.3391G>C p.G1131R Missense 25/30 - 1
5-180040051-C-T c.3391G>A p.G1131S Missense 25/30 - 8
5-180040052-G-A c.3390C>T p.D1130= Synonymous 25/30 - 3
5-180040054-C-A c.3388G>T p.D1130Y Missense 25/30 - 1
5-180040055-TCT-ATG c.3385_3387delinsCAT p.R1129H Missense 25/30 - 1
5-180040056-C-T c.3386G>A p.R1129K Missense 25/30 - 1
5-180040052-GTC-G c.3388_3389del p.D1130Rfs*83 Frameshift 25/30 - 1
5-180040058-C-A c.3384G>T p.L1128= Synonymous 25/30 - 1
5-180040058-C-G c.3384G>C p.L1128= Synonymous 25/30 - 2
5-180040058-C-T c.3384G>A p.L1128= Synonymous 25/30 - 1
5-180040060-G-A c.3382C>T p.L1128= Synonymous 25/30 - 1
5-180040061-CC-AT c.3380_3381delinsAT p.R1127H Missense 25/30 - 1
5-180040062-C-T c.3380G>A p.R1127Q Missense 25/30 - 2
5-180040063-G-A c.3379C>T p.R1127W Missense 25/30 - 2
5-180040064-C-A c.3378G>T p.Q1126H Missense 25/30 - 1
5-180040064-C-G c.3378G>C p.Q1126H Missense 25/30 - 1
5-180040066-G-A c.3376C>T p.Q1126* Nonsense 25/30 - 4
5-180040067-G-A c.3375C>T p.C1125= Synonymous 25/30 - 2
5-180040071-A-G c.3371T>C p.F1124S Missense 25/30 - 1
5-180040074-T-C c.3368A>G p.E1123G Missense 25/30 - 1
5-180040075-C-G c.3367G>C p.E1123Q Missense 25/30 - 1
5-180040078-C-G c.3364G>C p.E1122Q Missense 25/30 - 1
5-180040078-C-CA c.3363dup p.E1122* Nonsense 25/30 - 1
5-180040088-C-T c.3354G>A p.V1118= Synonymous 25/30 - 2
5-180040092-C-A c.3350G>T p.G1117V Missense 25/30 - 1
5-180040092-C-G c.3350G>C p.G1117A Missense 25/30 - 1
5-180040093-C-A c.3349G>T p.G1117W Missense 25/30 - 1
5-180040098-T-C c.3344A>G p.Y1115C Missense 25/30 - 1
5-180040101-G-A c.3341C>T p.P1114L Missense 25/30 - 9
5-180040102-G-C c.3340C>G p.P1114A Missense 25/30 - 1
5-180040102-G-T c.3340C>A p.P1114T Missense 25/30 - 1
5-180040103-G-A c.3339C>T p.S1113= Synonymous 25/30 - 1
5-180040103-G-C c.3339C>G p.S1113= Synonymous 25/30 - 1
5-180040103-G-T c.3339C>A p.S1113= Synonymous 25/30 - 1
5-180040104-G-A c.3338C>T p.S1113F Missense 25/30 - 1
5-180040107-G-A c.3335C>T p.A1112V Missense 25/30 - 1
5-180040110-C-A c.3332G>T p.G1111V Missense 25/30 - 1
5-180040110-C-T c.3332G>A p.G1111E Missense 25/30 - 1
5-180040153-C-T c.3332-43G>A - IntronicSNV - 24/29 3
5-180040457-T-C c.3332-347A>G - IntronicSNV - 24/29 2
5-180040918-G-A c.3331+150C>T - IntronicSNV - 24/29 3
5-180041001-G-A c.3331+67C>T - IntronicSNV - 24/29 3
5-180041001-G-C c.3331+67C>G - IntronicSNV - 24/29 6
5-180041008-T-C c.3331+60A>G - IntronicSNV - 24/29 6
5-180041008-T-G c.3331+60A>C - IntronicSNV - 24/29 3
5-180041029-T-C c.3331+39A>G - IntronicSNV - 24/29 1
5-180041060-G-T c.3331+8C>A - IntronicSNV - 24/29 1
5-180041066-A-C c.3331+2T>G - IntronicSNV - 24/29 1
5-180041067-C-A c.3331+1G>T - IntronicSNV - 24/29 2
5-180041071-G-A c.3328C>T p.L1110= Synonymous 24/30 - 1
5-180041071-G-C c.3328C>G p.L1110V Missense 24/30 - 1
5-180041072-GAGA-G c.3325_3327del p.S1109del InFrameDeletion 24/30 - 1
5-180041073-GA-AT c.3325_3326delinsAT p.S1109I Missense 24/30 - 1
5-180041073-G-C c.3326C>G p.S1109C Missense 24/30 - 2
5-180041076-A-G c.3323T>C p.F1108S Missense 24/30 - 1
5-180041073-GAGA-G c.3323_3325del p.F1108del InFrameDeletion 24/30 - 5
5-180041075-G-C c.3324C>G p.F1108L Missense 24/30 - 1
5-180041075-G-T c.3324C>A p.F1108L Missense 24/30 - 1
5-180041077-A-G c.3322T>C p.F1108L Missense 24/30 - 1
5-180041080-T-G c.3319A>C p.I1107L Missense 24/30 - 1
5-180041081-C-A c.3318G>T p.E1106D Missense 24/30 - 1
5-180041083-C-G c.3316G>C p.E1106Q Missense 24/30 - 2
5-180041083-C-T c.3316G>A p.E1106K Missense 24/30 - 3
5-180041084-C-A c.3315G>T p.W1105C Missense 24/30 - 1
5-180041084-C-G c.3315G>C p.W1105C Missense 24/30 - 2
5-180041084-C-T c.3315G>A p.W1105* Nonsense 24/30 - 2
5-180041085-C-A c.3314G>T p.W1105L Missense 24/30 - 1
5-180041087-G-A c.3312C>T p.L1104= Synonymous 24/30 - 1
5-180041087-G-C c.3312C>G p.L1104= Synonymous 24/30 - 1
5-180041089-G-A c.3310C>T p.L1104F Missense 24/30 - 4
5-180041089-G-T c.3310C>A p.L1104I Missense 24/30 - 1
5-180041091-A-G c.3308T>C p.L1103P Missense 24/30 - 1
5-180041092-G-T c.3307C>A p.L1103I Missense 24/30 - 1
5-180041095-C-A c.3304G>T p.V1102L Missense 24/30 - 1
5-180041095-C-G c.3304G>C p.V1102L Missense 24/30 - 1
5-180041097-C-A c.3302G>T p.G1101V Missense 24/30 - 1
5-180041098-C-A c.3301G>T p.G1101W Missense 24/30 - 1
5-180041102-G-A c.3297C>T p.S1099= Synonymous 24/30 - 3
5-180041102-G-C c.3297C>G p.S1099= Synonymous 24/30 - 1
5-180041103-G-A c.3296C>T p.S1099F Missense 24/30 - 2
5-180041103-GA-AT c.3295_3296delinsAT p.S1099I Missense 24/30 - 1
5-180041104-A-G c.3295T>C p.S1099P Missense 24/30 - 2
5-180041108-C-A c.3291G>T p.V1097= Synonymous 24/30 - 1
5-180041108-C-G c.3291G>C p.V1097= Synonymous 24/30 - 1
5-180041108-C-T c.3291G>A p.V1097= Synonymous 24/30 - 1
5-180041110-C-T c.3289G>A p.V1097M Missense 24/30 - 5
5-180041111-G-A c.3288C>T p.D1096= Synonymous 24/30 - 4
5-180041112-T-A c.3287A>T p.D1096V Missense 24/30 - 1
5-180041112-T-C c.3287A>G p.D1096G Missense 24/30 - 1
5-180041117-C-A c.3282G>T p.Q1094H Missense 24/30 - 1
5-180041117-C-G c.3282G>C p.Q1094H Missense 24/30 - 2
5-180041121-G-A c.3278C>T p.T1093M Missense 24/30 - 9
5-180041127-T-C c.3272A>G p.Y1091C Missense 24/30 - 4
5-180041128-A-G c.3271T>C p.Y1091H Missense 24/30 - 1
5-180041131-C-T c.3268G>A p.V1090M Missense 24/30 - 5
5-180041132-C-A c.3267G>T p.K1089N Missense 24/30 - 2
5-180041132-C-G c.3267G>C p.K1089N Missense 24/30 - 1
5-180041132-C-T c.3267G>A p.K1089= Synonymous 24/30 - 1
5-180041133-T-C c.3266A>G p.K1089R Missense 24/30 - 1
5-180041133-T-G c.3266A>C p.K1089T Missense 24/30 - 1
5-180041137-C-G c.3262G>C p.D1088H Missense 24/30 - 1
5-180041137-C-T c.3262G>A p.D1088N Missense 24/30 - 7
5-180041138-G-A c.3261C>T p.F1087= Synonymous 24/30 - 3
5-180041142-A-G c.3257T>C p.I1086T Missense 24/30 - 4
5-180041149-C-A c.3250G>T p.E1084* Nonsense 24/30 - 1
5-180041149-C-G c.3250G>C p.E1084Q Missense 24/30 - 3
5-180041149-C-T c.3250G>A p.E1084K Missense 24/30 - 2
5-180041152-G-A c.3247C>T p.P1083S Missense 24/30 - 1
5-180041152-G-T c.3247C>A p.P1083T Missense 24/30 - 1
5-180041154-G-C c.3245C>G p.A1082G Missense 24/30 - 1
5-180041155-C-T c.3244G>A p.A1082T Missense 24/30 - 3
5-180041156-C-A c.3243G>T p.M1081I Missense 24/30 - 1
5-180041159-C-T c.3240G>A p.W1080* Nonsense 24/30 - 1
5-180041160-C-T c.3239G>A p.W1080* Nonsense 24/30 - 3
5-180041165-C-T c.3234G>A p.L1078= Synonymous 24/30 - 2
5-180041166-A-T c.3233T>A p.L1078Q Missense 24/30 - 1
5-180041168-G-A c.3231C>T p.P1077= Synonymous 24/30 - 1
5-180041169-G-A c.3230C>T p.P1077L Missense 24/30 - 1
5-180041173-G-T c.3226C>A p.L1076M Missense 24/30 - 1
5-180041175-CG-TA c.3223_3224delinsTA p.R1075* Nonsense 24/30 - 1
5-180041175-C-T c.3224G>A p.R1075Q Missense 24/30 - 4
5-180041174-C-A c.3225G>T p.R1075= Synonymous 24/30 - 1
5-180041174-C-G c.3225G>C p.R1075= Synonymous 24/30 - 1
5-180041174-C-T c.3225G>A p.R1075= Synonymous 24/30 - 1
5-180041176-G-A c.3223C>T p.R1075W Missense 24/30 - 1
5-180041176-G-T c.3223C>A p.R1075= Synonymous 24/30 - 1
5-180041178-G-A c.3221C>T p.A1074V Missense 24/30 - 1
5-180041200-T-A c.3220-21A>T - IntronicSNV - 23/29 3
5-180041200-T-G c.3220-21A>C - IntronicSNV - 23/29 3
5-180041208-T-C c.3220-29A>G - IntronicSNV - 23/29 6
5-180041241-G-A c.3220-62C>T - IntronicSNV - 23/29 2
5-180041242-T-C c.3220-63A>G - IntronicSNV - 23/29 4
5-180041258-G-A c.3220-79C>T - IntronicSNV - 23/29 1
5-180041268-G-A c.3220-89C>T - IntronicSNV - 23/29 1
5-180041268-G-T c.3220-89C>A - IntronicSNV - 23/29 1
5-180041274-T-C c.3220-95A>G - IntronicSNV - 23/29 3
5-180041274-T-G c.3220-95A>C - IntronicSNV - 23/29 3
5-180041276-C-T c.3220-97G>A - IntronicSNV - 23/29 3
5-180041310-T-C c.3220-131A>G - IntronicSNV - 23/29 1
5-180041491-C-T c.3220-312G>A - IntronicSNV - 23/29 1
5-180041662-G-A c.3220-483C>T - IntronicSNV - 23/29 3
5-180041662-G-C c.3220-483C>G - IntronicSNV - 23/29 3
5-180042249-A-C c.3220-1070T>G - IntronicSNV - 23/29 1
5-180042446-G-A c.3219+921C>T - IntronicSNV - 23/29 1
5-180043096-C-T c.3219+271G>A - IntronicSNV - 23/29 1
5-180043297-CAG-C c.3219+69_3219+70del - IntronicDeletion - 23/29 1
5-180043330-C-G c.3219+37G>C - IntronicSNV - 23/29 5
5-180043330-C-T c.3219+37G>A - IntronicSNV - 23/29 3
5-180043367-A-C c.3219T>G p.S1073R Missense 23/30 - 1
5-180043367-A-G c.3219T>C p.S1073= Synonymous 23/30 - 1
5-180043367-A-T c.3219T>A p.S1073R Missense 23/30 - 3
5-180043369-T-G c.3217A>C p.S1073R Missense 23/30 - 1
5-180043369-T-TG c.3216dup p.S1073Qfs*12 Frameshift 23/30 - 1
5-180043371-C-G c.3215G>C p.G1072A Missense 23/30 - 1
5-180043372-C-T c.3214G>A p.G1072S Missense 23/30 - 4
5-180043376-G-A c.3210C>T p.R1070= Synonymous 23/30 - 2
5-180043376-G-C c.3210C>G p.R1070= Synonymous 23/30 - 1
5-180043376-G-T c.3210C>A p.R1070= Synonymous 23/30 - 1
5-180043377-C-A c.3209G>T p.R1070L Missense 23/30 - 10
5-180043377-C-T c.3209G>A p.R1070H Missense 23/30 - 4
5-180043378-G-A c.3208C>T p.R1070C Missense 23/30 - 5
5-180043378-G-T c.3208C>A p.R1070S Missense 23/30 - 3
5-180043381-C-T c.3205G>A p.V1069I Missense 23/30 - 2
5-180043382-G-A c.3204C>T p.Y1068= Synonymous 23/30 - 3
5-180043382-G-C c.3204C>G p.Y1068* Nonsense 23/30 - 1
5-180043383-T-A c.3203A>T p.Y1068F Missense 23/30 - 1
5-180043384-A-T c.3202T>A p.Y1068N Missense 23/30 - 2
5-180043385-GTC-TTA c.3199_3201delinsTAA p.D1067* Nonsense 23/30 - 1
5-180043387-C-T c.3199G>A p.D1067N Missense 23/30 - 1
5-180043388-G-A c.3198C>T p.P1066= Synonymous 23/30 - 23
5-180043388-G-C c.3198C>G p.P1066= Synonymous 23/30 - 3
5-180043388-G-T c.3198C>A p.P1066= Synonymous 23/30 - 3
5-180043390-G-T c.3196C>A p.P1066T Missense 23/30 - 1
5-180043391-G-C c.3195C>G p.D1065E Missense 23/30 - 1
5-180043391-G-T c.3195C>A p.D1065E Missense 23/30 - 1
5-180043393-C-T c.3193G>A p.D1065N Missense 23/30 - 2
5-180043396-T-C c.3190A>G p.K1064E Missense 23/30 - 4
5-180043398-T-A c.3188A>T p.Y1063F Missense 23/30 - 1
5-180043405-C-T c.3181G>A p.D1061N Missense 23/30 - 9
5-180043406-C-T c.3180G>A p.R1060= Synonymous 23/30 - 3
5-180043407-C-A c.3179G>T p.R1060L Missense 23/30 - 1
5-180043407-C-G c.3179G>C p.R1060P Missense 23/30 - 1
5-180043407-C-T c.3179G>A p.R1060Q Missense 23/30 - 6
5-180043406-C-A c.3180G>T p.R1060= Synonymous 23/30 - 1
5-180043406-C-G c.3180G>C p.R1060= Synonymous 23/30 - 1
5-180043408-G-A c.3178C>T p.R1060W Missense 23/30 - 8
5-180043408-G-T c.3178C>A p.R1060= Synonymous 23/30 - 4
5-180043409-G-A c.3177C>T p.A1059= Synonymous 23/30 - 2
5-180043409-G-C c.3177C>G p.A1059= Synonymous 23/30 - 2
5-180043409-G-T c.3177C>A p.A1059= Synonymous 23/30 - 2
5-180043411-C-A c.3175G>T p.A1059S Missense 23/30 - 1
5-180043411-C-G c.3175G>C p.A1059P Missense 23/30 - 2
5-180043411-C-T c.3175G>A p.A1059T Missense 23/30 - 1
5-180043412-A-T c.3174T>A p.L1058= Synonymous 23/30 - 4
5-180043414-G-A c.3172C>T p.L1058F Missense 23/30 - 2
5-180043414-G-T c.3172C>A p.L1058I Missense 23/30 - 1
5-180043416-C-T c.3170G>A p.G1057D Missense 23/30 - 3
5-180043419-A-C c.3167T>G p.F1056C Missense 23/30 - 3
5-180043421-G-C c.3165C>G p.D1055E Missense 23/30 - 1
5-180043421-G-T c.3165C>A p.D1055E Missense 23/30 - 1
5-180043422-T-A c.3164A>T p.D1055V Missense 23/30 - 2
5-180043422-T-G c.3164A>C p.D1055A Missense 23/30 - 2
5-180043423-C-G c.3163G>C p.D1055H Missense 23/30 - 2
5-180043423-C-T c.3163G>A p.D1055N Missense 23/30 - 4
5-180043429-T-A c.3157A>T p.I1053F Missense 23/30 - 6
5-180043429-T-G c.3157A>C p.I1053L Missense 23/30 - 2
5-180043431-T-A c.3155A>T p.K1052M Missense 23/30 - 2
5-180043433-C-A c.3153G>T p.V1051= Synonymous 23/30 - 1
5-180043435-C-T c.3151G>A p.V1051M Missense 23/30 - 1
5-180043438-C-T c.3148G>A p.V1050M Missense 23/30 - 6
5-180043439-G-A c.3147C>T p.D1049= Synonymous 23/30 - 3
5-180043439-G-T c.3147C>A p.D1049E Missense 23/30 - 2
5-180043441-C-G c.3145G>C p.D1049H Missense 23/30 - 1
5-180043441-C-T c.3145G>A p.D1049N Missense 23/30 - 7
5-180043442-G-A c.3144C>T p.S1048= Synonymous 23/30 - 3
5-180043442-G-C c.3144C>G p.S1048R Missense 23/30 - 2
5-180043448-C-A c.3138G>T p.S1046= Synonymous 23/30 - 1
5-180043448-C-G c.3138G>C p.S1046= Synonymous 23/30 - 1
5-180043448-C-T c.3138G>A p.S1046= Synonymous 23/30 - 2
5-180043449-G-A c.3137C>T p.S1046L Missense 23/30 - 9
5-180043455-A-G c.3131T>C p.L1044P Missense 23/30 - 5
5-180043457-A-G c.3129T>C p.I1043= Synonymous 23/30 - 1
5-180043457-A-T c.3129T>A p.I1043= Synonymous 23/30 - 1
5-180043461-T-C c.3125A>G p.N1042S Missense 23/30 - 1
5-180043463-C-T c.3123G>A p.R1041= Synonymous 23/30 - 4
5-180043464-C-G c.3122G>C p.R1041P Missense 23/30 - 5
5-180043464-C-T c.3122G>A p.R1041Q Missense 23/30 - 11
5-180043465-G-A c.3121C>T p.R1041W Missense 23/30 - 12
5-180043465-G-C c.3121C>G p.R1041G Missense 23/30 - 1
5-180043467-G-A c.3119C>T p.A1040V Missense 23/30 - 2
5-180043467-G-T c.3119C>A p.A1040D Missense 23/30 - 1
5-180043468-C-A c.3118G>T p.A1040S Missense 23/30 - 1
5-180043470-G-A c.3116C>T p.A1039V Missense 23/30 - 1
5-180043471-C-A c.3115G>T p.A1039S Missense 23/30 - 1
5-180043471-C-T c.3115G>A p.A1039T Missense 23/30 - 2
5-180043473-A-T c.3113T>A p.L1038Q Missense 23/30 - 2
5-180043474-G-A c.3112C>T p.L1038= Synonymous 23/30 - 1
5-180043474-G-T c.3112C>A p.L1038M Missense 23/30 - 1
5-180043475-G-C c.3111C>G p.D1037E Missense 23/30 - 1
5-180043475-G-T c.3111C>A p.D1037E Missense 23/30 - 1
5-180043477-C-A c.3109G>T p.D1037Y Missense 23/30 - 1
5-180043477-C-G c.3109G>C p.D1037H Missense 23/30 - 2
5-180043479-C-T c.3107G>A p.R1036K Missense 23/30 - 3
5-180043480-T-C c.3106A>G p.R1036G Missense 23/30 - 1
5-180043481-G-C c.3105C>G p.H1035Q Missense 23/30 - 2
5-180043482-T-C c.3104A>G p.H1035R Missense 23/30 - 8
5-180043482-TG-GC c.3103_3104delinsGC p.H1035A Missense 23/30 - 1
5-180043488-C-T c.3098G>A p.C1033Y Missense 23/30 - 3
5-180043489-A-C c.3097T>G p.C1033G Missense 23/30 - 1
5-180043731-C-A c.3096+169G>T - IntronicSNV - 22/29 8
5-180043773-C-A c.3096+127G>T - IntronicSNV - 22/29 1
5-180043814-C-T c.3096+86G>A - IntronicSNV - 22/29 1
5-180043900-C-T c.3096G>A p.K1032= Synonymous 22/30 - 1
5-180043901-T-A c.3095A>T p.K1032M Missense 22/30 - 2
5-180043904-C-T c.3092G>A p.R1031Q Missense 22/30 - 11
5-180043905-G-A c.3091C>T p.R1031* Nonsense 22/30 - 6
5-180043906-G-A c.3090C>T p.S1030= Synonymous 22/30 - 1
5-180043906-G-C c.3090C>G p.S1030= Synonymous 22/30 - 1
5-180043906-G-T c.3090C>A p.S1030= Synonymous 22/30 - 1
5-180043907-G-A c.3089C>T p.S1030F Missense 22/30 - 1
5-180043911-C-T c.3085G>A p.A1029T Missense 22/30 - 1
5-180043912-C-A c.3084G>T p.L1028= Synonymous 22/30 - 1
5-180043912-C-G c.3084G>C p.L1028= Synonymous 22/30 - 1
5-180043912-C-T c.3084G>A p.L1028= Synonymous 22/30 - 1
5-180043914-G-A c.3082C>T p.L1028= Synonymous 22/30 - 1
5-180043915-G-A c.3081C>T p.F1027= Synonymous 22/30 - 3
5-180043915-G-C c.3081C>G p.F1027L Missense 22/30 - 1
5-180043915-G-T c.3081C>A p.F1027L Missense 22/30 - 1
5-180043917-A-G c.3079T>C p.F1027L Missense 22/30 - 1
5-180043918-C-A c.3078G>T p.E1026D Missense 22/30 - 1
5-180043919-T-G c.3077A>C p.E1026A Missense 22/30 - 1
5-180043920-C-T c.3076G>A p.E1026K Missense 22/30 - 7
5-180043921-C-T c.3075G>A p.M1025I Missense 22/30 - 5
5-180043923-T-A c.3073A>T p.M1025L Missense 22/30 - 1
5-180043924-C-T c.3072G>A p.G1024= Synonymous 22/30 - 4
5-180043925-C-T c.3071G>A p.G1024E Missense 22/30 - 4
5-180043926-C-G c.3070G>C p.G1024R Missense 22/30 - 1
5-180043926-C-T c.3070G>A p.G1024R Missense 22/30 - 2
5-180043928-C-G c.3068G>C p.R1023T Missense 22/30 - 1
5-180043932-C-T c.3064G>A p.A1022T Missense 22/30 - 1
5-180043933-C-A c.3063G>T p.V1021= Synonymous 22/30 - 1
5-180043933-C-G c.3063G>C p.V1021= Synonymous 22/30 - 1
5-180043933-C-T c.3063G>A p.V1021= Synonymous 22/30 - 2
5-180043937-T-A c.3059A>T p.Q1020L Missense 22/30 - 2
5-180043939-G-A c.3057C>T p.F1019= Synonymous 22/30 - 1
5-180043940-A-G c.3056T>C p.F1019S Missense 22/30 - 1
5-180043939-G-C c.3057C>G p.F1019L Missense 22/30 - 1
5-180043939-G-T c.3057C>A p.F1019L Missense 22/30 - 1
5-180043941-A-G c.3055T>C p.F1019L Missense 22/30 - 2
5-180043942-G-A c.3054C>T p.S1018= Synonymous 22/30 - 1
5-180043942-G-T c.3054C>A p.S1018R Missense 22/30 - 1
5-180043943-C-G c.3053G>C p.S1018T Missense 22/30 - 3
5-180043946-T-C c.3050A>G p.Y1017C Missense 22/30 - 1
5-180043948-G-T c.3048C>A p.C1016* Nonsense 22/30 - 1
5-180043952-A-C c.3044T>G p.V1015G Missense 22/30 - 1
5-180043952-GACAA-G c.3041_3044del p.L1014Pfs*37 Frameshift 22/30 - 1
5-180043956-G-A c.3040C>T p.L1014F Missense 22/30 - 1
5-180043957-A-C c.3039T>G p.D1013E Missense 22/30 - 1
5-180043957-A-T c.3039T>A p.D1013E Missense 22/30 - 1
5-180043959-C-A c.3037G>T p.D1013Y Missense 22/30 - 4
5-180043961-T-A c.3035A>T p.E1012V Missense 22/30 - 2
5-180043966-G-A c.3030C>T p.T1010= Synonymous 22/30 - 5
5-180043967-G-A c.3029C>T p.T1010I Missense 22/30 - 6
5-180043969-C-T c.3027G>A p.L1009= Synonymous 22/30 - 2
5-180043970-A-G c.3026T>C p.L1009P Missense 22/30 - 1
5-180043973-G-A c.3023C>T p.P1008L Missense 22/30 - 4
5-180043976-C-A c.3020G>T p.S1007I Missense 22/30 - 1
5-180043984-C-T c.3012G>A p.L1004= Synonymous 22/30 - 1
5-180043986-G-A c.3010C>T p.L1004= Synonymous 22/30 - 2
5-180043989-C-A c.3007G>T p.D1003Y Missense 22/30 - 1
5-180043989-C-T c.3007G>A p.D1003N Missense 22/30 - 3
5-180043991-T-G c.3005A>C p.E1002A Missense 22/30 - 1
5-180043992-C-T c.3004G>A p.E1002K Missense 22/30 - 1
5-180043994-G-A c.3002C>T p.A1001V Missense 22/30 - 1
5-180045193-T-A c.3001+577A>T - IntronicSNV - 21/29 1
5-180045193-T-C c.3001+577A>G - IntronicSNV - 21/29 1
5-180045279-C-T c.3001+491G>A - IntronicSNV - 21/29 1
5-180045374-A-G c.3001+396T>C - IntronicSNV - 21/29 2
5-180045604-C-T c.3001+166G>A - IntronicSNV - 21/29 3
5-180045700-G-A c.3001+70C>T - IntronicSNV - 21/29 2
5-180045700-G-GGGTTACCCTA c.3001+69_3001+70insTAGGGTAACC - IntronicInsertion - 21/29 5
5-180045700-G-GGGTTTCCCTA c.3001+69_3001+70insTAGGGAAACC - IntronicInsertion - 21/29 5
5-180045701-G-GGTTACCCTAA c.3001+68_3001+69insTTAGGGTAAC - IntronicInsertion - 21/29 1
5-180045767-C-A c.3001+3G>T - IntronicSNV - 21/29 1
5-180045769-C-G c.3001+1G>C - IntronicSNV - 21/29 1
5-180045774-T-A c.2997A>T p.Q999H Missense 21/30 - 1
5-180045774-T-C c.2997A>G p.Q999= Synonymous 21/30 - 6
5-180045774-T-G c.2997A>C p.Q999H Missense 21/30 - 1
5-180045776-G-A c.2995C>T p.Q999* Nonsense 21/30 - 5
5-180045779-C-T c.2992G>A p.D998N Missense 21/30 - 1
5-180045784-G-A c.2987C>T p.S996F Missense 21/30 - 1
5-180045787-G-A c.2984C>T p.A995V Missense 21/30 - 1
5-180045788-C-G c.2983G>C p.A995P Missense 21/30 - 2
5-180045790-C-T c.2981G>A p.R994Q Missense 21/30 - 1
5-180045791-G-A c.2980C>T p.R994W Missense 21/30 - 1
5-180045792-C-A c.2979G>T p.R993S Missense 21/30 - 1
5-180045792-C-G c.2979G>C p.R993S Missense 21/30 - 1
5-180045796-G-A c.2975C>T p.A992V Missense 21/30 - 2
5-180045797-C-G c.2974G>C p.A992P Missense 21/30 - 1
5-180045797-C-T c.2974G>A p.A992T Missense 21/30 - 1
5-180045799-C-T c.2972G>A p.G991E Missense 21/30 - 1
5-180045800-C-G c.2971G>C p.G991R Missense 21/30 - 1
5-180045800-C-T c.2971G>A p.G991R Missense 21/30 - 1
5-180045801-G-A c.2970C>T p.G990= Synonymous 21/30 - 1
5-180045801-G-C c.2970C>G p.G990= Synonymous 21/30 - 1
5-180045801-G-T c.2970C>A p.G990= Synonymous 21/30 - 1
5-180045802-C-T c.2969G>A p.G990D Missense 21/30 - 1
5-180045804-C-A c.2967G>T p.E989D Missense 21/30 - 2
5-180045804-C-G c.2967G>C p.E989D Missense 21/30 - 2
5-180045806-C-A c.2965G>T p.E989* Nonsense 21/30 - 1
5-180045806-C-G c.2965G>C p.E989Q Missense 21/30 - 2
5-180045806-C-T c.2965G>A p.E989K Missense 21/30 - 1
5-180045811-T-C c.2960A>G p.K987R Missense 21/30 - 1
5-180045811-T-G c.2960A>C p.K987T Missense 21/30 - 1
5-180045814-G-A c.2957C>T p.S986L Missense 21/30 - 1
5-180045814-G-C c.2957C>G p.S986W Missense 21/30 - 1
5-180045814-G-T c.2957C>A p.S986* Nonsense 21/30 - 1
5-180045820-C-T c.2951G>A p.R984Q Missense 21/30 - 1
5-180045825-G-A c.2946C>T p.F982= Synonymous 21/30 - 1
5-180045825-G-C c.2946C>G p.F982L Missense 21/30 - 1
5-180045830-G-T c.2941C>A p.L981I Missense 21/30 - 1
5-180045831-G-A c.2940C>T p.V980= Synonymous 21/30 - 1
5-180045835-C-T c.2936G>A p.R979K Missense 21/30 - 1
5-180045839-C-A c.2932G>T p.D978Y Missense 21/30 - 2
5-180045845-T-G c.2926A>C p.S976R Missense 21/30 - 1
5-180045844-C-A c.2927G>T p.S976I Missense 21/30 - 1
5-180045846-C-T c.2925G>A p.G975= Synonymous 21/30 - 1
5-180045850-G-A c.2921C>T p.P974L Missense 21/30 - 1
5-180045853-C-A c.2918G>T p.R973L Missense 21/30 - 1
5-180045853-C-T c.2918G>A p.R973Q Missense 21/30 - 1
5-180045856-C-T c.2915G>A p.R972K Missense 21/30 - 2
5-180045863-C-G c.2908G>C p.D970H Missense 21/30 - 1
5-180045868-C-A c.2903G>T p.R968M Missense 21/30 - 1
5-180045870-G-C c.2901C>G p.A967= Synonymous 21/30 - 1
5-180045872-C-G c.2899G>C p.A967P Missense 21/30 - 1
5-180045872-C-T c.2899G>A p.A967T Missense 21/30 - 1
5-180045875-G-A c.2896C>T p.L966F Missense 21/30 - 1
5-180045878-C-G c.2893G>C p.E965Q Missense 21/30 - 1
5-180045878-C-T c.2893G>A p.E965K Missense 21/30 - 1
5-180045880-A-C c.2891T>G p.V964G Missense 21/30 - 1
5-180045886-G-T c.2885C>A p.A962D Missense 21/30 - 1
5-180045888-G-A c.2883C>T p.R961= Synonymous 21/30 - 2
5-180045888-G-C c.2883C>G p.R961= Synonymous 21/30 - 1
5-180045888-GC-TT c.2882_2883delinsAA p.R961Q Missense 21/30 - 1
5-180045888-G-T c.2883C>A p.R961= Synonymous 21/30 - 1
5-180045889-C-T c.2882G>A p.R961H Missense 21/30 - 1
5-180045890-G-A c.2881C>T p.R961C Missense 21/30 - 1
5-180045890-G-C c.2881C>G p.R961G Missense 21/30 - 1
5-180045895-C-A c.2876G>T p.R959L Missense 21/30 - 1
5-180045898-C-G c.2873G>C p.G958A Missense 21/30 - 1
5-180045899-C-T c.2872G>A p.G958R Missense 21/30 - 1
5-180045900-CG-C c.2871del p.G958Dfs*49 Frameshift 21/30 - 1
5-180045902-G-C c.2869C>G p.R957G Missense 21/30 - 1
5-180045907-T-C c.2864A>G p.E955G Missense 21/30 - 1
5-180045907-T-G c.2864A>C p.E955A Missense 21/30 - 1
5-180045908-C-G c.2863G>C p.E955Q Missense 21/30 - 2
5-180045909-G-A c.2862C>T p.P954= Synonymous 21/30 - 1
5-180045909-G-C c.2862C>G p.P954= Synonymous 21/30 - 1
5-180045909-G-T c.2862C>A p.P954= Synonymous 21/30 - 1
5-180045911-G-A c.2860C>T p.P954S Missense 21/30 - 22
5-180045911-G-C c.2860C>G p.P954A Missense 21/30 - 3
5-180045911-G-T c.2860C>A p.P954T Missense 21/30 - 2
5-180045913-G-A c.2858C>T p.S953F Missense 21/30 - 2
5-180045914-A-G c.2857T>C p.S953P Missense 21/30 - 2
5-180045917-T-G c.2854A>C p.K952Q Missense 21/30 - 1
5-180045918-C-A c.2853G>T p.E951D Missense 21/30 - 1
5-180045918-C-G c.2853G>C p.E951D Missense 21/30 - 1
5-180045917-TCTC-T c.2851_2853del p.E951del SpliceAcceptorDeletion 21/30 20/29 1
5-180045973-G-A c.2850+48C>T - IntronicSNV - 20/29 1
5-180045980-T-G c.2850+41A>C - IntronicSNV - 20/29 1
5-180046004-G-A c.2850+17C>T - IntronicSNV - 20/29 1
5-180046019-A-T c.2850+2T>A - IntronicSNV - 20/29 1
5-180046022-CG-C c.2849del p.A950Gfs*57 Frameshift 20/30 - 3
5-180046022-G-A c.2849C>T p.A950V Missense 20/30 - 1
5-180046023-C-A c.2848G>T p.A950S Missense 20/30 - 1
5-180046023-C-T c.2848G>A p.A950T Missense 20/30 - 1
5-180046026-AG-TA c.2844_2845delinsTA p.C949S Missense 20/30 - 1
5-180046026-CAG-C c.2844_2845del p.C949Rfs*53 Frameshift 20/30 - 1
5-180046028-G-T c.2843C>A p.P948H Missense 20/30 - 1
5-180046029-G-C c.2842C>G p.P948A Missense 20/30 - 1
5-180046029-G-T c.2842C>A p.P948T Missense 20/30 - 1
5-180046031-C-T c.2840G>A p.S947N Missense 20/30 - 1
5-180046033-G-T c.2838C>A p.F946L Missense 20/30 - 1
5-180046036-G-A c.2835C>T p.A945= Synonymous 20/30 - 2
5-180046038-C-T c.2833G>A p.A945T Missense 20/30 - 1
5-180046039-G-T c.2832C>A p.D944E Missense 20/30 - 1
5-180046041-C-A c.2830G>T p.D944Y Missense 20/30 - 1
5-180046040-TC-T c.2830del p.D944Tfs*63 Frameshift 20/30 - 1
5-180046043-C-A c.2828G>T p.R943L Missense 20/30 - 1
5-180046043-C-G c.2828G>C p.R943P Missense 20/30 - 1
5-180046043-C-T c.2828G>A p.R943Q Missense 20/30 - 2
5-180046044-G-A c.2827C>T p.R943W Missense 20/30 - 2
5-180046045-GC-G c.2826del p.K942Nfs*65 Frameshift 20/30 - 1
5-180046046-T-A c.2825A>T p.K942M Missense 20/30 - 1
5-180046049-G-C c.2822C>G p.A941G Missense 20/30 - 1
5-180046051-GC-TT c.2819_2820delinsAA p.R940Q Missense 20/30 - 1
5-180046052-C-G c.2819G>C p.R940P Missense 20/30 - 2
5-180046052-C-T c.2819G>A p.R940H Missense 20/30 - 1
5-180046068-G-T c.2803C>A p.L935I Missense 20/30 - 1
5-180046069-G-C c.2802C>G p.N934K Missense 20/30 - 1
5-180046070-T-C c.2801A>G p.N934S Missense 20/30 - 1
5-180046071-T-A c.2800A>T p.N934Y Missense 20/30 - 1
5-180046071-T-C c.2800A>G p.N934D Missense 20/30 - 2
5-180046074-C-G c.2797G>C p.G933R Missense 20/30 - 5
5-180046080-T-C c.2791A>G p.K931E Missense 20/30 - 1
5-180046089-C-T c.2782G>A p.E928K Missense 20/30 - 1
5-180046092-C-T c.2779G>A p.V927M Missense 20/30 - 2
5-180046094-A-G c.2777T>C p.I926T Missense 20/30 - 2
5-180046097-A-G c.2774T>C p.V925A Missense 20/30 - 1
5-180046097-A-T c.2774T>A p.V925E Missense 20/30 - 1
5-180046100-A-G c.2771T>C p.M924T Missense 20/30 - 2
5-180046101-T-C c.2770A>G p.M924V Missense 20/30 - 1
5-180046107-G-C c.2764C>G p.P922A Missense 20/30 - 1
5-180046103-AG-A c.2767del p.L923Sfs*3 Frameshift 20/30 - 1
5-180046123-G-A c.2762-14C>T - IntronicSNV - 19/29 1
5-180046123-G-C c.2762-14C>G - IntronicSNV - 19/29 1
5-180046204-C-T c.2761+49G>A - IntronicSNV - 19/29 1
5-180046209-C-G c.2761+44G>C - IntronicSNV - 19/29 4
5-180046209-C-T c.2761+44G>A - IntronicSNV - 19/29 9
5-180046234-C-T c.2761+19G>A - IntronicSNV - 19/29 1
5-180046249-G-A c.2761+4C>T - IntronicSNV - 19/29 1
5-180046252-C-T c.2761+1G>A - IntronicSNV - 19/29 1
5-180046256-G-A c.2758C>T p.Q920* Nonsense 19/30 - 4
5-180046259-G-T c.2755C>A p.P919T Missense 19/30 - 1
5-180046263-G-T c.2751C>A p.T917= Synonymous 19/30 - 1
5-180046265-T-G c.2749A>C p.T917P Missense 19/30 - 1
5-180046266-G-C c.2748C>G p.C916W Missense 19/30 - 1
5-180046267-C-A c.2747G>T p.C916F Missense 19/30 - 1
5-180046270-G-T c.2744C>A p.A915E Missense 19/30 - 1
5-180046271-C-G c.2743G>C p.A915P Missense 19/30 - 1
5-180046271-C-T c.2743G>A p.A915T Missense 19/30 - 1
5-180046273-C-A c.2741G>T p.G914V Missense 19/30 - 1
5-180046274-C-A c.2740G>T p.G914W Missense 19/30 - 1
5-180046274-C-G c.2740G>C p.G914R Missense 19/30 - 2
5-180046277-G-A c.2737C>T p.L913F Missense 19/30 - 2
5-180046274-CGAG-C c.2737_2739del p.L913del InFrameDeletion 19/30 - 1
5-180046280-G-A c.2734C>T p.L912F Missense 19/30 - 2
5-180046282-T-C c.2732A>G p.N911S Missense 19/30 - 3
5-180046282-T-G c.2732A>C p.N911T Missense 19/30 - 1
5-180046286-C-T c.2728G>A p.V910I Missense 19/30 - 1
5-180046287-C-T c.2727G>A p.V909= Synonymous 19/30 - 3
5-180046289-C-A c.2725G>T p.V909L Missense 19/30 - 1
5-180046289-C-G c.2725G>C p.V909L Missense 19/30 - 1
5-180046290-G-A c.2724C>T p.N908= Synonymous 19/30 - 1
5-180046291-T-C c.2723A>G p.N908S Missense 19/30 - 1
5-180046293-G-A c.2721C>T p.L907= Synonymous 19/30 - 3
5-180046293-G-C c.2721C>G p.L907= Synonymous 19/30 - 2
5-180046293-G-T c.2721C>A p.L907= Synonymous 19/30 - 2
5-180046294-A-G c.2720T>C p.L907P Missense 19/30 - 1
5-180046298-G-T c.2716C>A p.H906N Missense 19/30 - 2
5-180046296-GTGGT-G c.2714_2717del p.N905Tfs*20 Frameshift 19/30 - 3
5-180046300-T-C c.2714A>G p.N905S Missense 19/30 - 1
5-180046303-C-G c.2711G>C p.G904A Missense 19/30 - 1
5-180046303-C-T c.2711G>A p.G904D Missense 19/30 - 1
5-180046307-T-C c.2707A>G p.I903V Missense 19/30 - 1
5-180046308-G-A c.2706C>T p.H902= Synonymous 19/30 - 1
5-180046312-A-G c.2702T>C p.I901T Missense 19/30 - 1
5-180046314-G-A c.2700C>T p.L900= Synonymous 19/30 - 1
5-180046314-G-C c.2700C>G p.L900= Synonymous 19/30 - 1
5-180046314-G-T c.2700C>A p.L900= Synonymous 19/30 - 1
5-180046315-A-G c.2699T>C p.L900P Missense 19/30 - 1
5-180046316-G-A c.2698C>T p.L900F Missense 19/30 - 1
5-180046316-G-T c.2698C>A p.L900I Missense 19/30 - 1
5-180046321-T-C c.2693A>G p.K898R Missense 19/30 - 1
5-180046328-C-A c.2686G>T p.E896* Nonsense 19/30 - 4
5-180046330-G-A c.2684C>T p.S895L Missense 19/30 - 2
5-180046335-C-A c.2679G>T p.L893= Synonymous 19/30 - 1
5-180046335-C-G c.2679G>C p.L893= Synonymous 19/30 - 1
5-180046335-C-T c.2679G>A p.L893= Synonymous 19/30 - 1
5-180046337-G-A c.2677C>T p.L893= Synonymous 19/30 - 1
5-180046337-G-C c.2677C>G p.L893V Missense 19/30 - 2
5-180046339-G-A c.2675C>T p.A892V Missense 19/30 - 5
5-180046339-G-T c.2675C>A p.A892E Missense 19/30 - 2
5-180046340-C-T c.2674G>A p.A892T Missense 19/30 - 4
5-180046341-G-A c.2673C>T p.R891= Synonymous 19/30 - 1
5-180046343-G-A c.2671C>T p.R891C Missense 19/30 - 2
5-180046343-G-C c.2671C>G p.R891G Missense 19/30 - 1
5-180046344-G-C c.2670C>G p.H890Q Missense 19/30 - 57
5-180046344-G-T c.2670C>A p.H890Q Missense 19/30 - 25
5-180046347-C-T c.2667G>A p.E889= Synonymous 19/30 - 5
5-180046351-CT-GG c.2662_2663delinsCC p.S888P Missense 19/30 - 1
5-180046354-G-A c.2660C>T p.A887V Missense 19/30 - 2
5-180046354-G-T c.2660C>A p.A887D Missense 19/30 - 1
5-180046357-G-A c.2657C>T p.T886M Missense 19/30 - 1
5-180046357-G-T c.2657C>A p.T886K Missense 19/30 - 1
5-180046361-C-T c.2653G>A p.A885T Missense 19/30 - 1
5-180046362-G-A c.2652C>T p.G884= Synonymous 19/30 - 1
5-180046362-GC-CT c.2651_2652delinsAG p.G884E Missense 19/30 - 1
5-180046364-C-T c.2650G>A p.G884S Missense 19/30 - 1
5-180046426-C-CAG c.2648-61_2648-60insCT - IntronicInsertion - 18/29 2
5-180046426-C-CTGG c.2648-61_2648-60insCCA - IntronicInsertion - 18/29 2
5-180046426-C-CTGGACGCTTAGCTAAGGCACAG c.2648-61_2648-60insCTGTGCCTTAGCTAAGCGTCCA - IntronicInsertion - 18/29 2
5-180046426-C-CTGGCAGCTTAGCTAAGGCACAG c.2648-61_2648-60insCTGTGCCTTAGCTAAGCTGCCA - IntronicInsertion - 18/29 2
5-180046426-C-CTGGCCGCTTAGCTAAGGCACAG c.2648-61_2648-60insCTGTGCCTTAGCTAAGCGGCCA - IntronicInsertion - 18/29 2
5-180046426-C-CTGGCCGCTTAGCTAAGGCTCAG c.2648-61_2648-60insCTGAGCCTTAGCTAAGCGGCCA - IntronicInsertion - 18/29 2
5-180046426-C-CTGGCCGCTTAGGTAAGGCACAG c.2648-61_2648-60insCTGTGCCTTACCTAAGCGGCCA - IntronicInsertion - 18/29 2
5-180046427-C-T c.2648-61G>A - IntronicSNV - 18/29 2
5-180046428-C-G c.2648-62G>C - IntronicSNV - 18/29 1
5-180046428-C-T c.2648-62G>A - IntronicSNV - 18/29 1
5-180046427-C-CCGCTTAGCTAAGGCACAGT c.2648-62_2648-61insACTGTGCCTTAGCTAAGCG - IntronicInsertion - 18/29 1
5-180046529-G-A c.2647+136C>T - IntronicSNV - 18/29 1
5-180046569-C-A c.2647+96G>T - IntronicSNV - 18/29 1
5-180046580-C-T c.2647+85G>A - IntronicSNV - 18/29 1
5-180046585-C-T c.2647+80G>A - IntronicSNV - 18/29 1
5-180046586-G-A c.2647+79C>T - IntronicSNV - 18/29 1
5-180046601-C-T c.2647+64G>A - IntronicSNV - 18/29 1
5-180046610-C-A c.2647+55G>T - IntronicSNV - 18/29 1
5-180046636-G-C c.2647+29C>G - IntronicSNV - 18/29 2
5-180046643-C-A c.2647+22G>T - IntronicSNV - 18/29 1
5-180046663-A-G c.2647+2T>C - IntronicSNV - 18/29 1
5-180046664-C-A c.2647+1G>T - IntronicSNV - 18/29 1
5-180046665-C-T c.2647G>A p.E883K Missense 18/30 - 2
5-180046668-T-G c.2644A>C p.K882Q Missense 18/30 - 1
5-180046670-A-C c.2642T>G p.L881R Missense 18/30 - 1
5-180046673-A-G c.2639T>C p.M880T Missense 18/30 - 1
5-180046678-C-T c.2634G>A p.V878= Synonymous 18/30 - 2
5-180046680-C-T c.2632G>A p.V878M Missense 18/30 - 7
5-180046683-C-T c.2629G>A p.A877T Missense 18/30 - 2
5-180046686-C-A c.2626G>T p.V876L Missense 18/30 - 1
5-180046686-C-T c.2626G>A p.V876M Missense 18/30 - 4
5-180046691-T-A c.2621A>T p.D874V Missense 18/30 - 1
5-180046692-C-A c.2620G>T p.D874Y Missense 18/30 - 1
5-180046692-C-G c.2620G>C p.D874H Missense 18/30 - 1
5-180046692-C-T c.2620G>A p.D874N Missense 18/30 - 2
5-180046694-C-G c.2618G>C p.C873S Missense 18/30 - 1
5-180046696-G-C c.2616C>G p.S872R Missense 18/30 - 1
5-180046696-G-T c.2616C>A p.S872R Missense 18/30 - 1
5-180046698-T-G c.2614A>C p.S872R Missense 18/30 - 1
5-180046697-C-T c.2615G>A p.S872N Missense 18/30 - 2
5-180046703-C-G c.2609G>C p.G870A Missense 18/30 - 3
5-180046705-C-T c.2607G>A p.K869= Synonymous 18/30 - 1
5-180046710-G-A c.2602C>T p.H868Y Missense 18/30 - 3
5-180046713-T-C c.2599A>G p.I867V Missense 18/30 - 1
5-180046715-C-T c.2597G>A p.G866D Missense 18/30 - 2
5-180046716-C-T c.2596G>A p.G866S Missense 18/30 - 2
5-180046721-G-A c.2591C>T p.A864V Missense 18/30 - 2
5-180046722-C-A c.2590G>T p.A864S Missense 18/30 - 1
5-180046722-C-T c.2590G>A p.A864T Missense 18/30 - 2
5-180046723-G-A c.2589C>T p.S863= Synonymous 18/30 - 2
5-180046723-G-C c.2589C>G p.S863= Synonymous 18/30 - 1
5-180046723-G-T c.2589C>A p.S863= Synonymous 18/30 - 1
5-180046724-G-A c.2588C>T p.S863F Missense 18/30 - 1
5-180046725-A-G c.2587T>C p.S863P Missense 18/30 - 4
5-180046727-G-A c.2585C>T p.A862V Missense 18/30 - 1
5-180046728-C-T c.2584G>A p.A862T Missense 18/30 - 3
5-180046731-C-T c.2581G>A p.E861K Missense 18/30 - 1
5-180046735-C-A c.2577G>T p.V859= Synonymous 18/30 - 1
5-180046735-CAC-GAT c.2575_2577delinsATC p.V859I Missense 18/30 - 1
5-180046735-C-T c.2577G>A p.V859= Synonymous 18/30 - 1
5-180046737-C-T c.2575G>A p.V859M Missense 18/30 - 1
5-180046739-T-C c.2573A>G p.K858R Missense 18/30 - 1
5-180046743-C-A c.2569G>T p.G857W Missense 18/30 - 2
5-180046743-C-G c.2569G>C p.G857R Missense 18/30 - 4
5-180046743-C-T c.2569G>A p.G857R Missense 18/30 - 5
5-180046744-G-A c.2568C>T p.F856= Synonymous 18/30 - 2
5-180046747-G-A c.2565C>T p.A855= Synonymous 18/30 - 1
5-180046747-G-C c.2565C>G p.A855= Synonymous 18/30 - 2
5-180046747-G-T c.2565C>A p.A855= Synonymous 18/30 - 1
5-180046748-G-A c.2564C>T p.A855V Missense 18/30 - 1
5-180046748-GC-TA c.2563_2564delinsTA p.A855Y Missense 18/30 - 1
5-180046749-C-T c.2563G>A p.A855T Missense 18/30 - 11
5-180046750-CGCCGT-C c.2558_2562del p.Y853Cfs*20 Frameshift 18/30 - 3
5-180046752-C-G c.2560G>C p.G854R Missense 18/30 - 1
5-180046752-C-T c.2560G>A p.G854S Missense 18/30 - 3
5-180046757-C-A c.2555G>T p.G852V Missense 18/30 - 1
5-180046758-C-A c.2554G>T p.G852C Missense 18/30 - 2
5-180046758-C-G c.2554G>C p.G852R Missense 18/30 - 1
5-180046758-C-T c.2554G>A p.G852S Missense 18/30 - 5
5-180046760-A-T c.2552T>A p.L851H Missense 18/30 - 1
5-180046764-C-A c.2548G>T p.V850L Missense 18/30 - 1
5-180046765-TCT-CCA c.2545_2547delinsTGG p.R849W Missense 18/30 - 4
5-180046766-C-T c.2546G>A p.R849K Missense 18/30 - 2
5-180046769-C-A c.2543G>T p.G848V Missense 18/30 - 1
5-180046769-C-T c.2543G>A p.G848E Missense 18/30 - 3
5-180046774-C-T c.2543-5G>A - IntronicSNV - 17/29 1
5-180046785-G-A c.2543-16C>T - IntronicSNV - 17/29 1
5-180046839-G-A c.2543-70C>T - IntronicSNV - 17/29 2
5-180046885-G-A c.2543-116C>T - IntronicSNV - 17/29 1
5-180046934-G-T c.2543-165C>A - IntronicSNV - 17/29 1
5-180047171-CA-C c.2542+2del - IntronicDeletion - 17/29 1
5-180047172-C-T c.2542+1G>A - IntronicSNV - 17/29 1
5-180047176-G-C c.2539C>G p.L847V Missense 17/30 - 1
5-180047178-T-C c.2537A>G p.H846R Missense 17/30 - 1
5-180047179-G-A c.2536C>T p.H846Y Missense 17/30 - 2
5-180047183-CC-AT c.2531_2532delinsAT p.R844H Missense 17/30 - 1
5-180047183-CCG-ACA c.2530_2532delinsTGT p.R844C Missense 17/30 - 1
5-180047183-CCG-GCT c.2530_2532delinsAGC p.R844S Missense 17/30 - 2
5-180047184-C-G c.2531G>C p.R844P Missense 17/30 - 2
5-180047184-C-T c.2531G>A p.R844Q Missense 17/30 - 3
5-180047183-C-A c.2532G>T p.R844= Synonymous 17/30 - 1
5-180047183-C-G c.2532G>C p.R844= Synonymous 17/30 - 1
5-180047183-C-T c.2532G>A p.R844= Synonymous 17/30 - 2
5-180047185-G-A c.2530C>T p.R844W Missense 17/30 - 3
5-180047185-G-T c.2530C>A p.R844= Synonymous 17/30 - 1
5-180047186-C-G c.2529G>C p.E843D Missense 17/30 - 1
5-180047186-C-T c.2529G>A p.E843= Synonymous 17/30 - 3
5-180047188-C-T c.2527G>A p.E843K Missense 17/30 - 1
5-180047190-C-T c.2525G>A p.R842Q Missense 17/30 - 2
5-180047189-T-A c.2526A>T p.R842= Synonymous 17/30 - 1
5-180047189-T-C c.2526A>G p.R842= Synonymous 17/30 - 1
5-180047189-T-G c.2526A>C p.R842= Synonymous 17/30 - 1
5-180047191-G-A c.2524C>T p.R842* Nonsense 17/30 - 1
5-180047191-G-T c.2524C>A p.R842= Synonymous 17/30 - 1
5-180047193-G-A c.2522C>T p.P841L Missense 17/30 - 1
5-180047193-G-T c.2522C>A p.P841H Missense 17/30 - 1
5-180047190-C-CG c.2524dup p.R842Pfs*33 Frameshift 17/30 - 1
5-180047195-G-T c.2520C>A p.F840L Missense 17/30 - 1
5-180047198-T-C c.2517A>G p.E839= Synonymous 17/30 - 1
5-180047200-C-G c.2515G>C p.E839Q Missense 17/30 - 2
5-180047200-C-T c.2515G>A p.E839K Missense 17/30 - 1
5-180047201-C-T c.2514G>A p.W838* Nonsense 17/30 - 3
5-180047207-G-C c.2508C>G p.S836R Missense 17/30 - 1
5-180047207-G-T c.2508C>A p.S836R Missense 17/30 - 1
5-180047209-T-G c.2506A>C p.S836R Missense 17/30 - 1
5-180047208-C-A c.2507G>T p.S836I Missense 17/30 - 1
5-180047208-C-T c.2507G>A p.S836N Missense 17/30 - 1
5-180047209-T-C c.2506A>G p.S836G Missense 17/30 - 3
5-180047211-G-A c.2504C>T p.A835V Missense 17/30 - 2
5-180047211-G-T c.2504C>A p.A835D Missense 17/30 - 1
5-180047212-C-A c.2503G>T p.A835S Missense 17/30 - 1
5-180047212-C-T c.2503G>A p.A835T Missense 17/30 - 1
5-180047215-C-G c.2500G>C p.D834H Missense 17/30 - 1
5-180047215-C-T c.2500G>A p.D834N Missense 17/30 - 2
5-180047216-G-A c.2499C>T p.Y833= Synonymous 17/30 - 1
5-180047216-G-C c.2499C>G p.Y833* Nonsense 17/30 - 2
5-180047216-G-T c.2499C>A p.Y833* Nonsense 17/30 - 1
5-180047218-A-G c.2497T>C p.Y833H Missense 17/30 - 1
5-180047219-G-A c.2496C>T p.S832= Synonymous 17/30 - 1
5-180047219-G-C c.2496C>G p.S832= Synonymous 17/30 - 1
5-180047219-G-T c.2496C>A p.S832= Synonymous 17/30 - 2
5-180047220-G-T c.2495C>A p.S832Y Missense 17/30 - 1
5-180047222-C-A c.2493G>T p.L831= Synonymous 17/30 - 1
5-180047222-C-G c.2493G>C p.L831= Synonymous 17/30 - 1
5-180047222-C-T c.2493G>A p.L831= Synonymous 17/30 - 1
5-180047224-G-A c.2491C>T p.L831= Synonymous 17/30 - 1
5-180047226-T-C c.2489A>G p.Y830C Missense 17/30 - 1
5-180047227-AT-A c.2487del p.E829Dfs*50 Frameshift 17/30 - 1
5-180047230-C-G c.2485G>C p.E829Q Missense 17/30 - 1
5-180047230-C-T c.2485G>A p.E829K Missense 17/30 - 9
5-180047231-G-A c.2484C>T p.C828= Synonymous 17/30 - 3
5-180047231-G-T c.2484C>A p.C828* Nonsense 17/30 - 1
5-180047236-G-A c.2479C>T p.Q827* Nonsense 17/30 - 2
5-180047236-G-C c.2479C>G p.Q827E Missense 17/30 - 1
5-180047245-G-A c.2470C>T p.L824= Synonymous 17/30 - 1
5-180047245-G-T c.2470C>A p.L824M Missense 17/30 - 1
5-180047249-C-T c.2466G>A p.V822= Synonymous 17/30 - 2
5-180047254-C-T c.2461G>A p.E821K Missense 17/30 - 1
5-180047255-C-A c.2460G>T p.G820= Synonymous 17/30 - 1
5-180047255-C-G c.2460G>C p.G820= Synonymous 17/30 - 1
5-180047255-C-T c.2460G>A p.G820= Synonymous 17/30 - 4
5-180047256-C-G c.2459G>C p.G820A Missense 17/30 - 1
5-180047256-C-T c.2459G>A p.G820E Missense 17/30 - 2
5-180047257-C-T c.2458G>A p.G820R Missense 17/30 - 2
5-180047259-G-T c.2456C>A p.P819H Missense 17/30 - 1
5-180047260-G-A c.2455C>T p.P819S Missense 17/30 - 1
5-180047263-C-A c.2452G>T p.D818Y Missense 17/30 - 1
5-180047266-T-G c.2449A>C p.M817L Missense 17/30 - 1
5-180047269-T-C c.2446A>G p.I816V Missense 17/30 - 1
5-180047264-CATG-C c.2448_2450del p.I816del InFrameDeletion 17/30 - 1
5-180047271-A-G c.2444T>C p.I815T Missense 17/30 - 1
5-180047274-G-T c.2441C>A p.S814Y Missense 17/30 - 1
5-180047277-A-G c.2438T>C p.L813P Missense 17/30 - 1
5-180047278-G-T c.2437C>A p.L813M Missense 17/30 - 1
5-180047279-G-T c.2436C>A p.Y812* Nonsense 17/30 - 1
5-180047284-C-T c.2431G>A p.G811S Missense 17/30 - 4
5-180047286-G-T c.2429C>A p.T810K Missense 17/30 - 2
5-180047288-C-A c.2427G>T p.K809N Missense 17/30 - 1
5-180047288-C-G c.2427G>C p.K809N Missense 17/30 - 1
5-180047291-G-A c.2424C>T p.I808= Synonymous 17/30 - 4
5-180047293-T-A c.2422A>T p.I808F Missense 17/30 - 2
5-180047293-T-C c.2422A>G p.I808V Missense 17/30 - 2
5-180047297-TGC-ACA c.2416_2418delinsTGT p.A806C Missense 17/30 - 1
5-180047298-G-T c.2417C>A p.A806E Missense 17/30 - 1
5-180047299-C-A c.2416G>T p.A806S Missense 17/30 - 3
5-180047299-C-T c.2416G>A p.A806T Missense 17/30 - 4
5-180047305-C-A c.2410G>T p.A804S Missense 17/30 - 1
5-180047305-C-T c.2410G>A p.A804T Missense 17/30 - 2
5-180047307-G-T c.2408C>A p.P803Q Missense 17/30 - 2
5-180047308-G-A c.2407C>T p.P803S Missense 17/30 - 1
5-180047308-G-T c.2407C>A p.P803T Missense 17/30 - 1
5-180047313-G-A c.2407-5C>T - IntronicSNV - 16/29 1
5-180047313-G-T c.2407-5C>A - IntronicSNV - 16/29 1
5-180047412-T-A c.2407-104A>T - IntronicSNV - 16/29 4
5-180047412-T-C c.2407-104A>G - IntronicSNV - 16/29 4
5-180047608-C-A c.2406+1G>T - IntronicSNV - 16/29 1
5-180047609-C-A c.2406G>T p.R802S Missense 16/30 - 1
5-180047609-CCT-ACA c.2404_2406delinsTGT p.R802C Missense 16/30 - 1
5-180047610-C-A c.2405G>T p.R802M Missense 16/30 - 1
5-180047610-C-T c.2405G>A p.R802K Missense 16/30 - 6
5-180047608-CCCT-C c.2404_2406del p.R802del SpliceDonorDeletion 16/30 - 1
5-180047613-C-T c.2402G>A p.R801K Missense 16/30 - 1
5-180047614-T-C c.2401A>G p.R801G Missense 16/30 - 1
5-180047617-T-A c.2398A>T p.M800L Missense 16/30 - 1
5-180047617-T-G c.2398A>C p.M800L Missense 16/30 - 1
5-180047619-T-C c.2396A>G p.N799S Missense 16/30 - 1
5-180047623-A-G c.2392T>C p.C798R Missense 16/30 - 1
5-180047632-G-T c.2383C>A p.L795I Missense 16/30 - 1
5-180047634-A-T c.2381T>A p.L794H Missense 16/30 - 1
5-180047636-G-A c.2379C>T p.L793= Synonymous 16/30 - 2
5-180047636-G-C c.2379C>G p.L793= Synonymous 16/30 - 3
5-180047636-G-T c.2379C>A p.L793= Synonymous 16/30 - 1
5-180047637-A-G c.2378T>C p.L793P Missense 16/30 - 1
5-180047646-C-T c.2369G>A p.W790* Nonsense 16/30 - 1
5-180047648-G-C c.2367C>G p.F789L Missense 16/30 - 1
5-180047648-G-T c.2367C>A p.F789L Missense 16/30 - 1
5-180047650-A-G c.2365T>C p.F789L Missense 16/30 - 1
5-180047651-G-A c.2364C>T p.F788= Synonymous 16/30 - 5
5-180047651-G-C c.2364C>G p.F788L Missense 16/30 - 1
5-180047651-G-T c.2364C>A p.F788L Missense 16/30 - 1
5-180047653-A-G c.2362T>C p.F788L Missense 16/30 - 1
5-180047654-GAC-CAT c.2359_2361delinsATG p.V787M Missense 16/30 - 1
5-180047656-C-T c.2359G>A p.V787I Missense 16/30 - 1
5-180047658-G-T c.2357C>A p.A786D Missense 16/30 - 1
5-180047659-C-T c.2356G>A p.A786T Missense 16/30 - 5
5-180047660-CG-C c.2355del p.I785Mfs*16 Frameshift 16/30 - 1
5-180047662-T-C c.2353A>G p.I785V Missense 16/30 - 1
5-180047663-GAC-CAT c.2350_2352delinsATG p.V784M Missense 16/30 - 1
5-180047665-C-T c.2350G>A p.V784I Missense 16/30 - 9
5-180047667-C-A c.2348G>T p.G783V Missense 16/30 - 1
5-180047668-C-T c.2347G>A p.G783S Missense 16/30 - 1
5-180047669-G-A c.2346C>T p.T782= Synonymous 16/30 - 1
5-180047671-T-C c.2344A>G p.T782A Missense 16/30 - 1
5-180047672-A-C c.2343T>G p.G781= Synonymous 16/30 - 1
5-180047672-A-G c.2343T>C p.G781= Synonymous 16/30 - 1
5-180047672-A-T c.2343T>A p.G781= Synonymous 16/30 - 1
5-180047673-C-A c.2342G>T p.G781V Missense 16/30 - 2
5-180047674-C-G c.2341G>C p.G781R Missense 16/30 - 2
5-180047675-G-A c.2340C>T p.V780= Synonymous 16/30 - 4
5-180047675-G-C c.2340C>G p.V780= Synonymous 16/30 - 1
5-180047675-G-T c.2340C>A p.V780= Synonymous 16/30 - 1
5-180047676-A-G c.2339T>C p.V780A Missense 16/30 - 2
5-180047677-C-G c.2338G>C p.V780L Missense 16/30 - 1
5-180047679-A-C c.2336T>G p.L779R Missense 16/30 - 2
5-180047680-G-A c.2335C>T p.L779F Missense 16/30 - 1
5-180047681-G-A c.2334C>T p.I778= Synonymous 16/30 - 3
5-180047681-G-C c.2334C>G p.I778M Missense 16/30 - 1
5-180047683-T-C c.2332A>G p.I778V Missense 16/30 - 1
5-180047684-C-G c.2331G>C p.V777= Synonymous 16/30 - 1
5-180047685-A-C c.2330T>G p.V777G Missense 16/30 - 1
5-180047685-A-G c.2330T>C p.V777A Missense 16/30 - 1
5-180047685-A-T c.2330T>A p.V777E Missense 16/30 - 1
5-180047686-C-A c.2329G>T p.V777L Missense 16/30 - 1
5-180047686-C-G c.2329G>C p.V777L Missense 16/30 - 1
5-180047686-C-T c.2329G>A p.V777M Missense 16/30 - 1
5-180047687-G-A c.2328C>T p.I776= Synonymous 16/30 - 4
5-180047687-G-T c.2328C>A p.I776= Synonymous 16/30 - 2
5-180047694-A-C c.2321T>G p.M774R Missense 16/30 - 2
5-180047694-A-T c.2321T>A p.M774K Missense 16/30 - 3
5-180047694-ATGCTGCCC-A c.2313_2320del p.K771Nfs*26 Frameshift 16/30 - 1
5-180047697-C-T c.2318G>A p.S773N Missense 16/30 - 1
5-180047700-C-T c.2315G>A p.G772D Missense 16/30 - 2
5-180047701-C-T c.2314G>A p.G772S Missense 16/30 - 2
5-180047702-C-A c.2313G>T p.K771N Missense 16/30 - 1
5-180047703-T-C c.2312A>G p.K771R Missense 16/30 - 1
5-180047704-T-C c.2311A>G p.K771E Missense 16/30 - 1
5-180047706-T-G c.2309A>C p.D770A Missense 16/30 - 1
5-180047710-C-A c.2305G>T p.E769* Nonsense 16/30 - 6
5-180047710-C-T c.2305G>A p.E769K Missense 16/30 - 1
5-180047711-G-A c.2304C>T p.S768= Synonymous 16/30 - 2
5-180047711-G-C c.2304C>G p.S768= Synonymous 16/30 - 1
5-180047711-G-T c.2304C>A p.S768= Synonymous 16/30 - 1
5-180047712-G-A c.2303C>T p.S768F Missense 16/30 - 1
5-180047715-C-A c.2300G>T p.G767V Missense 16/30 - 2
5-180047715-C-G c.2300G>C p.G767A Missense 16/30 - 1
5-180047739-C-CATGT c.2300-25_2300-24insACAT - IntronicInsertion - 15/29 1
5-180047758-A-G c.2300-43T>C - IntronicSNV - 15/29 1
5-180047793-G-C c.2300-78C>G - IntronicSNV - 15/29 3
5-180047842-G-A c.2299+34C>T - IntronicSNV - 15/29 2
5-180047863-C-G c.2299+13G>C - IntronicSNV - 15/29 11
5-180047863-C-T c.2299+13G>A - IntronicSNV - 15/29 5
5-180047875-C-A c.2299+1G>T - IntronicSNV - 15/29 1
5-180047877-T-A c.2298A>T p.E766D Missense 15/30 - 2
5-180047877-T-G c.2298A>C p.E766D Missense 15/30 - 2
5-180047882-C-A c.2293G>T p.V765L Missense 15/30 - 1
5-180047882-C-G c.2293G>C p.V765L Missense 15/30 - 1
5-180047882-C-T c.2293G>A p.V765M Missense 15/30 - 4
5-180047882-CG-C c.2292del p.V765Wfs*13 Frameshift 15/30 - 1
5-180047885-C-T c.2290G>A p.A764T Missense 15/30 - 1
5-180047887-A-G c.2288T>C p.V763A Missense 15/30 - 3
5-180047888-C-T c.2287G>A p.V763M Missense 15/30 - 6
5-180047889-G-A c.2286C>T p.S762= Synonymous 15/30 - 1
5-180047890-C-A c.2285G>T p.S762I Missense 15/30 - 1
5-180047891-T-C c.2284A>G p.S762G Missense 15/30 - 2
5-180047893-G-A c.2282C>T p.A761V Missense 15/30 - 3
5-180047893-G-C c.2282C>G p.A761G Missense 15/30 - 1
5-180047894-C-A c.2281G>T p.A761S Missense 15/30 - 1
5-180047894-C-T c.2281G>A p.A761T Missense 15/30 - 3
5-180047895-G-A c.2280C>T p.S760= Synonymous 15/30 - 1
5-180047906-C-T c.2269G>A p.V757I Missense 15/30 - 3
5-180047907-G-A c.2268C>T p.C756= Synonymous 15/30 - 1
5-180047908-C-T c.2267G>A p.C756Y Missense 15/30 - 1
5-180047909-A-C c.2266T>G p.C756G Missense 15/30 - 1
5-180047911-C-G c.2264G>C p.G755A Missense 15/30 - 1
5-180047912-C-T c.2263G>A p.G755S Missense 15/30 - 1
5-180047917-G-T c.2258C>A p.A753D Missense 15/30 - 1
5-180047918-C-T c.2257G>A p.A753T Missense 15/30 - 2
5-180047919-G-C c.2256C>G p.N752K Missense 15/30 - 1
5-180047924-A-G c.2251T>C p.C751R Missense 15/30 - 1
5-180047927-C-T c.2248G>A p.V750M Missense 15/30 - 6
5-180047928-G-A c.2247C>T p.S749= Synonymous 15/30 - 1
5-180047928-G-T c.2247C>A p.S749R Missense 15/30 - 1
5-180047929-C-A c.2246G>T p.S749I Missense 15/30 - 1
5-180047930-T-C c.2245A>G p.S749G Missense 15/30 - 1
5-180047932-CA-GT c.2242_2243delinsAC p.C748T Missense 15/30 - 1
5-180047933-A-C c.2242T>G p.C748G Missense 15/30 - 1
5-180047936-G-T c.2239C>A p.L747M Missense 15/30 - 1
5-180047939-A-T c.2236T>A p.Y746N Missense 15/30 - 2
5-180047941-C-A c.2234G>T p.R745L Missense 15/30 - 1
5-180047941-C-T c.2234G>A p.R745H Missense 15/30 - 3
5-180047942-G-A c.2233C>T p.R745C Missense 15/30 - 2
5-180047945-C-A c.2230G>T p.G744* Nonsense 15/30 - 1
5-180047945-C-T c.2230G>A p.G744R Missense 15/30 - 1
5-180047946-C-T c.2229G>A p.A743= Synonymous 15/30 - 2
5-180047947-G-A c.2228C>T p.A743V Missense 15/30 - 2
5-180047948-C-A c.2227G>T p.A743S Missense 15/30 - 1
5-180047951-C-A c.2224G>T p.D742Y Missense 15/30 - 1
5-180047951-C-T c.2224G>A p.D742N Missense 15/30 - 1
5-180047949-ATCC-A c.2223_2225del p.E741del InFrameDeletion 15/30 - 1
5-180047955-C-A c.2220G>T p.E740D Missense 15/30 - 1
5-180047955-C-G c.2220G>C p.E740D Missense 15/30 - 1
5-180047956-T-A c.2219A>T p.E740V Missense 15/30 - 1
5-180047957-C-A c.2218G>T p.E740* Nonsense 15/30 - 1
5-180047957-C-T c.2218G>A p.E740K Missense 15/30 - 3
5-180047958-G-A c.2217C>T p.R739= Synonymous 15/30 - 2
5-180047958-G-C c.2217C>G p.R739= Synonymous 15/30 - 1
5-180047958-G-T c.2217C>A p.R739= Synonymous 15/30 - 1
5-180047959-C-T c.2216G>A p.R739H Missense 15/30 - 1
5-180047960-G-A c.2215C>T p.R739C Missense 15/30 - 3
5-180047960-G-T c.2215C>A p.R739S Missense 15/30 - 1
5-180047963-C-A c.2212G>T p.V738L Missense 15/30 - 5
5-180047963-C-G c.2212G>C p.V738L Missense 15/30 - 3
5-180047963-C-T c.2212G>A p.V738M Missense 15/30 - 1
5-180047964-G-A c.2211C>T p.R737= Synonymous 15/30 - 2
5-180047964-G-C c.2211C>G p.R737= Synonymous 15/30 - 1
5-180047964-G-T c.2211C>A p.R737= Synonymous 15/30 - 1
5-180047965-CG-GC c.2209_2210delinsGC p.R737A Missense 15/30 - 1
5-180047965-C-T c.2210G>A p.R737H Missense 15/30 - 3
5-180047966-G-A c.2209C>T p.R737C Missense 15/30 - 1
5-180047969-G-A c.2206C>T p.Q736* Nonsense 15/30 - 5
5-180047972-T-C c.2203A>G p.I735V Missense 15/30 - 1
5-180047975-T-G c.2200A>C p.S734R Missense 15/30 - 1
5-180047973-G-GC c.2201dup p.S734Rfs*38 Frameshift 15/30 - 2
5-180047978-G-C c.2197C>G p.L733V Missense 15/30 - 1
5-180047979-C-A c.2196G>T p.K732N Missense 15/30 - 1
5-180047979-C-G c.2196G>C p.K732N Missense 15/30 - 1
5-180047979-C-T c.2196G>A p.K732= Synonymous 15/30 - 4
5-180047984-G-T c.2191C>A p.Q731K Missense 15/30 - 1
5-180047986-T-A c.2189A>T p.N730I Missense 15/30 - 1
5-180047986-T-C c.2189A>G p.N730S Missense 15/30 - 1
5-180047988-G-A c.2187C>T p.S729= Synonymous 15/30 - 2
5-180047988-G-C c.2187C>G p.S729= Synonymous 15/30 - 1
5-180047988-G-T c.2187C>A p.S729= Synonymous 15/30 - 1
5-180047993-C-T c.2182G>A p.D728N Missense 15/30 - 4
5-180047994-C-T c.2181G>A p.A727= Synonymous 15/30 - 2
5-180047995-G-A c.2180C>T p.A727V Missense 15/30 - 5
5-180047996-C-T c.2179G>A p.A727T Missense 15/30 - 1
5-180047999-A-G c.2176T>C p.L726= Synonymous 15/30 - 1
5-180048001-T-C c.2174A>G p.D725G Missense 15/30 - 1
5-180048002-C-A c.2173G>T p.D725Y Missense 15/30 - 1
5-180048002-C-T c.2173G>A p.D725N Missense 15/30 - 1
5-180048005-C-T c.2170G>A p.V724I Missense 15/30 - 1
5-180048007-C-T c.2168G>A p.G723E Missense 15/30 - 6
5-180048035-T-C c.2168-28A>G - IntronicSNV - 14/29 9
5-180048056-C-T c.2168-49G>A - IntronicSNV - 14/29 11
5-180048064-C-G c.2167+42G>C - IntronicSNV - 14/29 1
5-180048105-C-A c.2167+1G>T - IntronicSNV - 14/29 1
5-180048106-C-A c.2167G>T p.G723* Nonsense 14/30 - 1
5-180048108-G-A c.2165C>T p.S722F Missense 14/30 - 3
5-180048108-G-T c.2165C>A p.S722Y Missense 14/30 - 2
5-180048109-A-G c.2164T>C p.S722P Missense 14/30 - 1
5-180048111-T-G c.2162A>C p.K721T Missense 14/30 - 1
5-180048115-C-T c.2158G>A p.E720K Missense 14/30 - 7
5-180048120-A-T c.2153T>A p.L718Q Missense 14/30 - 1
5-180048122-C-A c.2151G>T p.L717= Synonymous 14/30 - 1
5-180048122-C-G c.2151G>C p.L717= Synonymous 14/30 - 1
5-180048122-C-T c.2151G>A p.L717= Synonymous 14/30 - 1
5-180048124-G-A c.2149C>T p.L717= Synonymous 14/30 - 1
5-180048130-C-A c.2143G>T p.E715* Nonsense 14/30 - 1
5-180048130-C-T c.2143G>A p.E715K Missense 14/30 - 8
5-180048132-T-A c.2141A>T p.D714V Missense 14/30 - 1
5-180048138-T-C c.2135A>G p.Y712C Missense 14/30 - 1
5-180048141-C-T c.2132G>A p.W711* Nonsense 14/30 - 3
5-180048142-A-C c.2131T>G p.W711G Missense 14/30 - 1
5-180048144-A-G c.2129T>C p.V710A Missense 14/30 - 1
5-180048144-A-T c.2129T>A p.V710E Missense 14/30 - 1
5-180048145-C-A c.2128G>T p.V710L Missense 14/30 - 1
5-180048145-C-G c.2128G>C p.V710L Missense 14/30 - 1
5-180048145-C-T c.2128G>A p.V710M Missense 14/30 - 2
5-180048146-G-A c.2127C>T p.I709= Synonymous 14/30 - 1
5-180048146-G-T c.2127C>A p.I709= Synonymous 14/30 - 1
5-180048152-G-T c.2121C>A p.P707= Synonymous 14/30 - 1
5-180048153-G-A c.2120C>T p.P707L Missense 14/30 - 3
5-180048153-G-GC c.2119_2120insG p.P707Rfs*65 Frameshift 14/30 - 1
5-180048155-C-A c.2118G>T p.A706= Synonymous 14/30 - 2
5-180048155-C-G c.2118G>C p.A706= Synonymous 14/30 - 1
5-180048155-C-T c.2118G>A p.A706= Synonymous 14/30 - 3
5-180048156-G-A c.2117C>T p.A706V Missense 14/30 - 1
5-180048156-GC-TA c.2116_2117delinsTA p.A706* Nonsense 14/30 - 1
5-180048156-G-T c.2117C>A p.A706E Missense 14/30 - 5
5-180048157-C-T c.2116G>A p.A706T Missense 14/30 - 8
5-180048158-G-A c.2115C>T p.H705= Synonymous 14/30 - 1
5-180048161-C-A c.2112G>T p.A704= Synonymous 14/30 - 2
5-180048161-C-G c.2112G>C p.A704= Synonymous 14/30 - 2
5-180048161-C-T c.2112G>A p.A704= Synonymous 14/30 - 3
5-180048163-C-A c.2110G>T p.A704S Missense 14/30 - 1
5-180048163-C-G c.2110G>C p.A704P Missense 14/30 - 1
5-180048165-C-T c.2108G>A p.G703E Missense 14/30 - 3
5-180048166-C-G c.2107G>C p.G703R Missense 14/30 - 2
5-180048166-C-T c.2107G>A p.G703R Missense 14/30 - 1
5-180048168-G-A c.2105C>T p.A702V Missense 14/30 - 2
5-180048169-C-T c.2104G>A p.A702T Missense 14/30 - 1
5-180048176-G-C c.2097C>G p.C699W Missense 14/30 - 1
5-180048176-G-T c.2097C>A p.C699* Nonsense 14/30 - 1
5-180048177-C-T c.2096G>A p.C699Y Missense 14/30 - 3
5-180048179-C-T c.2094G>A p.Q698= Synonymous 14/30 - 2
5-180048182-C-A c.2091G>T p.M697I Missense 14/30 - 5
5-180048182-C-G c.2091G>C p.M697I Missense 14/30 - 3
5-180048182-C-T c.2091G>A p.M697I Missense 14/30 - 3
5-180048187-C-T c.2086G>A p.E696K Missense 14/30 - 3
5-180048188-C-A c.2085G>T p.L695= Synonymous 14/30 - 1
5-180048188-C-G c.2085G>C p.L695= Synonymous 14/30 - 1
5-180048188-C-T c.2085G>A p.L695= Synonymous 14/30 - 1
5-180048190-G-A c.2083C>T p.L695= Synonymous 14/30 - 2
5-180048189-AG-TA c.2083_2084delinsTA p.L695* Nonsense 14/30 - 1
5-180048192-G-A c.2081C>T p.S694L Missense 14/30 - 2
5-180048192-G-T c.2081C>A p.S694* Nonsense 14/30 - 1
5-180048196-C-A c.2077G>T p.D693Y Missense 14/30 - 2
5-180048197-G-A c.2076C>T p.S692= Synonymous 14/30 - 8
5-180048198-C-G c.2075G>C p.S692T Missense 14/30 - 1
5-180048202-C-T c.2071G>A p.V691M Missense 14/30 - 6
5-180048203-G-A c.2070C>T p.N690= Synonymous 14/30 - 1
5-180048204-T-C c.2069A>G p.N690S Missense 14/30 - 2
5-180048205-T-C c.2068A>G p.N690D Missense 14/30 - 1
5-180048207-A-G c.2066T>C p.V689A Missense 14/30 - 4
5-180048207-A-T c.2066T>A p.V689E Missense 14/30 - 1
5-180048208-C-A c.2065G>T p.V689L Missense 14/30 - 2
5-180048217-C-T c.2056G>A p.D686N Missense 14/30 - 11
5-180048218-G-A c.2055C>T p.T685= Synonymous 14/30 - 1
5-180048218-G-C c.2055C>G p.T685= Synonymous 14/30 - 2
5-180048218-G-T c.2055C>A p.T685= Synonymous 14/30 - 2
5-180048219-G-A c.2054C>T p.T685I Missense 14/30 - 1
5-180048221-C-A c.2052G>T p.L684F Missense 14/30 - 1
5-180048221-C-G c.2052G>C p.L684F Missense 14/30 - 1
5-180048230-C-A c.2043G>T p.T681= Synonymous 14/30 - 2
5-180048230-C-G c.2043G>C p.T681= Synonymous 14/30 - 2
5-180048230-C-T c.2043G>A p.T681= Synonymous 14/30 - 3
5-180048231-G-A c.2042C>T p.T681M Missense 14/30 - 2
5-180048234-A-T c.2039T>A p.L680H Missense 14/30 - 1
5-180048235-G-A c.2038C>T p.L680F Missense 14/30 - 1
5-180048237-C-T c.2036G>A p.R679Q Missense 14/30 - 3
5-180048238-G-A c.2035C>T p.R679W Missense 14/30 - 9
5-180048238-G-C c.2035C>G p.R679G Missense 14/30 - 2
5-180048241-G-A c.2032C>T p.P678S Missense 14/30 - 1
5-180048242-G-T c.2031C>A p.A677= Synonymous 14/30 - 2
5-180048239-AG-A c.2033del p.P678Lfs*7 Frameshift 14/30 - 1
5-180048243-G-T c.2030C>A p.A677D Missense 14/30 - 2
5-180048244-C-A c.2029G>T p.A677S Missense 14/30 - 1
5-180048244-C-T c.2029G>A p.A677T Missense 14/30 - 1
5-180048249-CA-C c.2024del p.L675Rfs*10 Frameshift 14/30 - 1
5-180048250-G-A c.2023C>T p.L675= Synonymous 14/30 - 2
5-180048250-G-C c.2023C>G p.L675V Missense 14/30 - 1
5-180048250-G-T c.2023C>A p.L675M Missense 14/30 - 1
5-180048252-G-T c.2021C>A p.A674D Missense 14/30 - 1
5-180048259-G-A c.2021-7C>T - IntronicSNV - 13/29 1
5-180048259-G-C c.2021-7C>G - IntronicSNV - 13/29 1
5-180048316-C-G c.2021-64G>C - IntronicSNV - 13/29 4
5-180048470-C-T c.2020+72G>A - IntronicSNV - 13/29 1
5-180048495-A-T c.2020+47T>A - IntronicSNV - 13/29 1
5-180048542-C-T c.2020G>A p.A674T Missense 13/30 - 4
5-180048543-C-T c.2019G>A p.Q673= Synonymous 13/30 - 3
5-180048544-T-G c.2018A>C p.Q673P Missense 13/30 - 1
5-180048546-C-A c.2016G>T p.V672= Synonymous 13/30 - 1
5-180048546-C-G c.2016G>C p.V672= Synonymous 13/30 - 1
5-180048546-C-T c.2016G>A p.V672= Synonymous 13/30 - 2
5-180048548-C-T c.2014G>A p.V672M Missense 13/30 - 1
5-180048549-C-T c.2013G>A p.S671= Synonymous 13/30 - 2
5-180048550-G-A c.2012C>T p.S671L Missense 13/30 - 5
5-180048556-T-C c.2006A>G p.Y669C Missense 13/30 - 4
5-180048558-C-T c.2004G>A p.K668= Synonymous 13/30 - 3
5-180048558-CT-C c.2003del p.K668Sfs*17 Frameshift 13/30 - 1
5-180048560-T-C c.2002A>G p.K668E Missense 13/30 - 1
5-180048562-TT-GC c.1999_2000delinsGC p.K667A Missense 13/30 - 1
5-180048564-G-A c.1998C>T p.H666= Synonymous 13/30 - 1
5-180048564-G-C c.1998C>G p.H666Q Missense 13/30 - 2
5-180048564-G-T c.1998C>A p.H666Q Missense 13/30 - 1
5-180048568-CA-GT c.1993_1994delinsAC p.C665T Missense 13/30 - 1
5-180048574-T-C c.1988A>G p.K663R Missense 13/30 - 2
5-180048577-T-A c.1985A>T p.D662V Missense 13/30 - 1
5-180048580-T-A c.1982A>T p.H661L Missense 13/30 - 2
5-180048580-T-C c.1982A>G p.H661R Missense 13/30 - 1
5-180048582-G-C c.1980C>G p.S660R Missense 13/30 - 1
5-180048582-G-T c.1980C>A p.S660R Missense 13/30 - 2
5-180048584-T-G c.1978A>C p.S660R Missense 13/30 - 1
5-180048584-CT-C c.1978del p.S660Afs*25 Frameshift 13/30 - 1
5-180048586-C-A c.1976G>T p.R659L Missense 13/30 - 1
5-180048586-C-T c.1976G>A p.R659H Missense 13/30 - 2
5-180048587-G-A c.1975C>T p.R659C Missense 13/30 - 2
5-180048589-C-A c.1973G>T p.R658L Missense 13/30 - 1
5-180048589-CG-TA c.1972_1973delinsTA p.R658* Nonsense 13/30 - 1
5-180048589-C-T c.1973G>A p.R658Q Missense 13/30 - 3
5-180048590-G-A c.1972C>T p.R658W Missense 13/30 - 1
5-180048595-T-C c.1967A>G p.Q656R Missense 13/30 - 1
5-180048596-G-A c.1966C>T p.Q656* Nonsense 13/30 - 1
5-180048602-C-G c.1960G>C p.E654Q Missense 13/30 - 2
5-180048602-C-T c.1960G>A p.E654K Missense 13/30 - 6
5-180048603-G-A c.1959C>T p.C653= Synonymous 13/30 - 4
5-180048603-G-T c.1959C>A p.C653* Nonsense 13/30 - 2
5-180048606-C-A c.1956G>T p.V652= Synonymous 13/30 - 1
5-180048606-C-G c.1956G>C p.V652= Synonymous 13/30 - 1
5-180048606-C-T c.1956G>A p.V652= Synonymous 13/30 - 1
5-180048603-GCA-G c.1957_1958del p.C653Rfs*9 Frameshift 13/30 - 1
5-180048610-T-C c.1952A>G p.Y651C Missense 13/30 - 3
5-180048612-G-A c.1950C>T p.H650= Synonymous 13/30 - 1
5-180048616-C-G c.1946G>C p.G649A Missense 13/30 - 1
5-180048616-C-T c.1946G>A p.G649D Missense 13/30 - 1
5-180048620-C-T c.1942G>A p.E648K Missense 13/30 - 5
5-180048621-G-A c.1941C>T p.H647= Synonymous 13/30 - 3
5-180048621-G-C c.1941C>G p.H647Q Missense 13/30 - 1
5-180048621-G-T c.1941C>A p.H647Q Missense 13/30 - 2
5-180048622-T-A c.1940A>T p.H647L Missense 13/30 - 1
5-180048626-C-T c.1936G>A p.E646K Missense 13/30 - 7
5-180048627-G-A c.1935C>T p.P645= Synonymous 13/30 - 1
5-180048630-C-A c.1932G>T p.A644= Synonymous 13/30 - 1
5-180048630-C-G c.1932G>C p.A644= Synonymous 13/30 - 1
5-180048630-C-T c.1932G>A p.A644= Synonymous 13/30 - 1
5-180048631-G-A c.1931C>T p.A644V Missense 13/30 - 1
5-180048631-G-T c.1931C>A p.A644E Missense 13/30 - 1
5-180048632-C-A c.1930G>T p.A644S Missense 13/30 - 1
5-180048632-C-T c.1930G>A p.A644T Missense 13/30 - 5
5-180048633-G-A c.1929C>T p.V643= Synonymous 13/30 - 3
5-180048635-C-T c.1927G>A p.V643I Missense 13/30 - 4
5-180048636-G-A c.1926C>T p.R642= Synonymous 13/30 - 2
5-180048636-G-C c.1926C>G p.R642= Synonymous 13/30 - 1
5-180048636-G-T c.1926C>A p.R642= Synonymous 13/30 - 1
5-180048637-C-T c.1925G>A p.R642H Missense 13/30 - 4
5-180048638-G-A c.1924C>T p.R642C Missense 13/30 - 9
5-180048640-G-A c.1922C>T p.P641L Missense 13/30 - 2
5-180048641-G-A c.1921C>T p.P641S Missense 13/30 - 23
5-180048642-G-A c.1920C>T p.I640= Synonymous 13/30 - 4
5-180048643-A-G c.1919T>C p.I640T Missense 13/30 - 1
5-180048646-C-T c.1916G>A p.S639N Missense 13/30 - 1
5-180048648-C-A c.1914G>T p.L638= Synonymous 13/30 - 1
5-180048648-C-G c.1914G>C p.L638= Synonymous 13/30 - 1
5-180048648-C-T c.1914G>A p.L638= Synonymous 13/30 - 1
5-180048650-G-A c.1912C>T p.L638= Synonymous 13/30 - 1
5-180048649-A-C c.1913T>G p.L638R Missense 13/30 - 1
5-180048651-G-C c.1911C>G p.S637R Missense 13/30 - 2
5-180048651-G-T c.1911C>A p.S637R Missense 13/30 - 1
5-180048653-T-G c.1909A>C p.S637R Missense 13/30 - 1
5-180048652-C-T c.1910G>A p.S637N Missense 13/30 - 2
5-180048655-GA-G c.1907del p.L636Pfs*3 Frameshift 13/30 - 3
5-180048658-G-A c.1904C>T p.T635M Missense 13/30 - 3
5-180048658-G-T c.1904C>A p.T635K Missense 13/30 - 2
5-180048661-G-A c.1901C>T p.A634V Missense 13/30 - 3
5-180048661-G-C c.1901C>G p.A634G Missense 13/30 - 1
5-180048662-C-T c.1900G>A p.A634T Missense 13/30 - 5
5-180048663-G-A c.1899C>T p.H633= Synonymous 13/30 - 2
5-180048664-T-C c.1898A>G p.H633R Missense 13/30 - 1
5-180048665-G-A c.1897C>T p.H633Y Missense 13/30 - 1
5-180048667-C-A c.1895G>T p.R632L Missense 13/30 - 1
5-180048667-CG-AT c.1894_1895delinsAT p.R632I Missense 13/30 - 1
5-180048667-C-T c.1895G>A p.R632H Missense 13/30 - 7
5-180048668-G-A c.1894C>T p.R632C Missense 13/30 - 2
5-180048668-G-T c.1894C>A p.R632S Missense 13/30 - 2
5-180048669-C-A c.1893G>T p.A631= Synonymous 13/30 - 3
5-180048669-C-G c.1893G>C p.A631= Synonymous 13/30 - 3
5-180048669-C-T c.1893G>A p.A631= Synonymous 13/30 - 4
5-180048665-GGC-G c.1895_1896del p.R632Pfs*30 Frameshift 13/30 - 1
5-180048670-G-A c.1892C>T p.A631V Missense 13/30 - 2
5-180048671-C-T c.1891G>A p.A631T Missense 13/30 - 4
5-180048672-C-T c.1890G>A p.G630= Synonymous 13/30 - 1
5-180048674-C-A c.1888G>T p.G630W Missense 13/30 - 1
5-180048676-G-T c.1886C>A p.P629H Missense 13/30 - 3
5-180048677-G-T c.1885C>A p.P629T Missense 13/30 - 1
5-180048680-C-G c.1882G>C p.A628P Missense 13/30 - 2
5-180048683-C-T c.1879G>A p.V627M Missense 13/30 - 2
5-180048686-C-A c.1876G>T p.E626* Nonsense 13/30 - 1
5-180048686-C-G c.1876G>C p.E626Q Missense 13/30 - 1
5-180048688-T-G c.1874A>C p.E625A Missense 13/30 - 1
5-180048689-C-T c.1873G>A p.E625K Missense 13/30 - 1
5-180048693-G-T c.1869C>A p.S623R Missense 13/30 - 1
5-180048694-C-T c.1868G>A p.S623N Missense 13/30 - 1
5-180048696-G-A c.1866C>T p.A622= Synonymous 13/30 - 1
5-180048697-G-A c.1865C>T p.A622V Missense 13/30 - 2
5-180048698-C-T c.1864G>A p.A622T Missense 13/30 - 6
5-180048702-C-A c.1860G>T p.L620= Synonymous 13/30 - 1
5-180048702-C-G c.1860G>C p.L620= Synonymous 13/30 - 1
5-180048702-C-T c.1860G>A p.L620= Synonymous 13/30 - 1
5-180048703-A-G c.1859T>C p.L620P Missense 13/30 - 1
5-180048704-G-A c.1858C>T p.L620= Synonymous 13/30 - 3
5-180048704-G-C c.1858C>G p.L620V Missense 13/30 - 1
5-180048706-G-C c.1856C>G p.P619R Missense 13/30 - 1
5-180048707-G-A c.1855C>T p.P619S Missense 13/30 - 3
5-180048707-G-T c.1855C>A p.P619T Missense 13/30 - 2
5-180048710-T-C c.1852A>G p.T618A Missense 13/30 - 2
5-180048710-T-G c.1852A>C p.T618P Missense 13/30 - 1
5-180048712-G-A c.1850C>T p.A617V Missense 13/30 - 2
5-180048713-C-A c.1849G>T p.A617S Missense 13/30 - 1
5-180048713-C-T c.1849G>A p.A617T Missense 13/30 - 3
5-180048714-G-A c.1848C>T p.F616= Synonymous 13/30 - 1
5-180048722-G-A c.1840C>T p.H614Y Missense 13/30 - 1
5-180048725-C-T c.1837G>A p.V613M Missense 13/30 - 2
5-180048726-G-A c.1836C>T p.N612= Synonymous 13/30 - 2
5-180048726-G-C c.1836C>G p.N612K Missense 13/30 - 1
5-180048727-T-A c.1835A>T p.N612I Missense 13/30 - 1
5-180048729-C-T c.1833G>A p.K611= Synonymous 13/30 - 2
5-180048731-T-C c.1831A>G p.K611E Missense 13/30 - 1
5-180048734-A-G c.1828T>C p.C610R Missense 13/30 - 1
5-180048735-G-A c.1827C>T p.D609= Synonymous 13/30 - 1
5-180048737-C-G c.1825G>C p.D609H Missense 13/30 - 1
5-180048737-C-T c.1825G>A p.D609N Missense 13/30 - 5
5-180048738-G-A c.1824C>T p.L608= Synonymous 13/30 - 1
5-180048738-G-C c.1824C>G p.L608= Synonymous 13/30 - 1
5-180048738-G-T c.1824C>A p.L608= Synonymous 13/30 - 2
5-180048740-G-A c.1822C>T p.L608F Missense 13/30 - 6
5-180048742-A-G c.1820T>C p.L607P Missense 13/30 - 2
5-180048744-A-C c.1818T>G p.L606= Synonymous 13/30 - 1
5-180048744-A-G c.1818T>C p.L606= Synonymous 13/30 - 1
5-180048744-A-T c.1818T>A p.L606= Synonymous 13/30 - 1
5-180048748-G-A c.1814C>T p.P605L Missense 13/30 - 2
5-180048748-G-T c.1814C>A p.P605Q Missense 13/30 - 2
5-180048749-G-A c.1813C>T p.P605S Missense 13/30 - 2
5-180048751-T-C c.1811A>G p.N604S Missense 13/30 - 1
5-180048755-C-T c.1807G>A p.G603R Missense 13/30 - 2
5-180048756-G-A c.1806C>T p.H602= Synonymous 13/30 - 1
5-180048756-G-T c.1806C>A p.H602Q Missense 13/30 - 1
5-180048757-T-C c.1805A>G p.H602R Missense 13/30 - 1
5-180048758-G-T c.1804C>A p.H602N Missense 13/30 - 1
5-180048759-C-A c.1803G>T p.A601= Synonymous 13/30 - 2
5-180048759-C-G c.1803G>C p.A601= Synonymous 13/30 - 2
5-180048759-C-T c.1803G>A p.A601= Synonymous 13/30 - 5
5-180048760-G-A c.1802C>T p.A601V Missense 13/30 - 5
5-180048760-G-T c.1802C>A p.A601E Missense 13/30 - 1
5-180048761-C-T c.1801G>A p.A601T Missense 13/30 - 3
5-180048762-A-T c.1800T>A p.D600E Missense 13/30 - 1
5-180048764-C-G c.1798G>C p.D600H Missense 13/30 - 1
5-180048764-C-T c.1798G>A p.D600N Missense 13/30 - 9
5-180048765-G-A c.1797C>T p.H599= Synonymous 13/30 - 6
5-180048766-T-C c.1796A>G p.H599R Missense 13/30 - 1
5-180048771-C-A c.1791G>T p.T597= Synonymous 13/30 - 3
5-180048771-C-G c.1791G>C p.T597= Synonymous 13/30 - 1
5-180048771-C-T c.1791G>A p.T597= Synonymous 13/30 - 3
5-180048772-G-A c.1790C>T p.T597M Missense 13/30 - 3
5-180048779-G-A c.1783C>T p.L595= Synonymous 13/30 - 4
5-180048779-G-T c.1783C>A p.L595M Missense 13/30 - 1
5-180048785-G-C c.1777C>G p.L593V Missense 13/30 - 1
5-180048786-GC-TT c.1775_1776delinsAA p.R592Q Missense 13/30 - 1
5-180048787-C-T c.1775G>A p.R592H Missense 13/30 - 5
5-180048788-G-A c.1774C>T p.R592C Missense 13/30 - 3
5-180048792-C-G c.1770G>C p.W590C Missense 13/30 - 2
5-180048792-C-T c.1770G>A p.W590* Nonsense 13/30 - 3
5-180048795-G-A c.1767C>T p.R589= Synonymous 13/30 - 1
5-180048795-G-C c.1767C>G p.R589= Synonymous 13/30 - 1
5-180048795-GCG-TCA c.1765_1767delinsTGA p.R589* Nonsense 13/30 - 1
5-180048795-G-T c.1767C>A p.R589= Synonymous 13/30 - 1
5-180048796-C-A c.1766G>T p.R589L Missense 13/30 - 1
5-180048796-C-T c.1766G>A p.R589H Missense 13/30 - 2
5-180048797-G-A c.1765C>T p.R589C Missense 13/30 - 6
5-180048800-G-T c.1762C>A p.L588M Missense 13/30 - 2
5-180048805-T-G c.1757A>C p.E586A Missense 13/30 - 1
5-180048806-C-A c.1756G>T p.E586* Nonsense 13/30 - 1
5-180048806-C-T c.1756G>A p.E586K Missense 13/30 - 3
5-180048809-A-C c.1753T>G p.Y585D Missense 13/30 - 1
5-180048811-T-C c.1751A>G p.K584R Missense 13/30 - 1
5-180048814-T-C c.1748A>G p.Y583C Missense 13/30 - 1
5-180048816-G-A c.1746C>T p.S582= Synonymous 13/30 - 1
5-180048816-G-C c.1746C>G p.S582R Missense 13/30 - 1
5-180048816-G-T c.1746C>A p.S582R Missense 13/30 - 1
5-180048818-T-G c.1744A>C p.S582R Missense 13/30 - 1
5-180048820-T-C c.1742A>G p.D581G Missense 13/30 - 1
5-180048821-C-T c.1741G>A p.D581N Missense 13/30 - 16
5-180048822-G-A c.1740C>T p.A580= Synonymous 13/30 - 1
5-180048822-G-C c.1740C>G p.A580= Synonymous 13/30 - 1
5-180048822-G-T c.1740C>A p.A580= Synonymous 13/30 - 3
5-180048823-G-GC c.1738dup p.A580Gfs*83 Frameshift 13/30 - 1
5-180048825-T-C c.1737A>G p.Q579= Synonymous 13/30 - 2
5-180048826-T-C c.1736A>G p.Q579R Missense 13/30 - 2
5-180048827-G-A c.1735C>T p.Q579* Nonsense 13/30 - 1
5-180048829-C-A c.1733G>T p.C578F Missense 13/30 - 1
5-180048830-A-G c.1732T>C p.C578R Missense 13/30 - 1
5-180048834-TC-T c.1728del p.S577Afs*62 Frameshift 13/30 - 1
5-180048835-A-G c.1727T>C p.L576P Missense 13/30 - 1
5-180048836-G-T c.1726C>A p.L576M Missense 13/30 - 2
5-180048837-G-A c.1725C>T p.L575= Synonymous 13/30 - 4
5-180048837-G-C c.1725C>G p.L575= Synonymous 13/30 - 3
5-180048837-G-T c.1725C>A p.L575= Synonymous 13/30 - 3
5-180048839-G-A c.1723C>T p.L575F Missense 13/30 - 1
5-180048839-G-T c.1723C>A p.L575I Missense 13/30 - 1
5-180048840-CAC-GAT c.1720_1722delinsATC p.V574I Missense 13/30 - 1
5-180048842-C-T c.1720G>A p.V574M Missense 13/30 - 1
5-180048844-G-A c.1718C>T p.P573L Missense 13/30 - 1
5-180048845-G-A c.1717C>T p.P573S Missense 13/30 - 2
5-180048846-C-T c.1716G>A p.Q572= Synonymous 13/30 - 1
5-180048848-G-A c.1714C>T p.Q572* Nonsense 13/30 - 4
5-180048851-C-T c.1711G>A p.G571S Missense 13/30 - 4
5-180048853-T-C c.1709A>G p.E570G Missense 13/30 - 1
5-180048854-C-T c.1708G>A p.E570K Missense 13/30 - 1
5-180048861-C-A c.1701G>T p.E567D Missense 13/30 - 3
5-180048861-C-G c.1701G>C p.E567D Missense 13/30 - 2
5-180048865-T-C c.1697A>G p.E566G Missense 13/30 - 1
5-180048866-C-G c.1696G>C p.E566Q Missense 13/30 - 1
5-180048866-C-T c.1696G>A p.E566K Missense 13/30 - 3
5-180048867-G-A c.1695C>T p.S565= Synonymous 13/30 - 1
5-180048868-G-A c.1694C>T p.S565F Missense 13/30 - 4
5-180048869-A-G c.1693T>C p.S565P Missense 13/30 - 1
5-180048871-G-A c.1691C>T p.P564L Missense 13/30 - 1
5-180048872-G-A c.1690C>T p.P564S Missense 13/30 - 1
5-180048873-C-A c.1689G>T p.K563N Missense 13/30 - 1
5-180048873-C-G c.1689G>C p.K563N Missense 13/30 - 1
5-180048873-C-T c.1689G>A p.K563= Synonymous 13/30 - 1
5-180048875-T-C c.1687A>G p.K563E Missense 13/30 - 1
5-180048878-A-G c.1684T>C p.S562P Missense 13/30 - 1
5-180048880-T-C c.1682A>G p.E561G Missense 13/30 - 1
5-180048881-C-T c.1681G>A p.E561K Missense 13/30 - 3
5-180048882-G-A c.1680C>T p.I560= Synonymous 13/30 - 3
5-180048882-G-C c.1680C>G p.I560M Missense 13/30 - 1
5-180048882-G-T c.1680C>A p.I560= Synonymous 13/30 - 1
5-180048883-A-G c.1679T>C p.I560T Missense 13/30 - 1
5-180048884-T-A c.1678A>T p.I560F Missense 13/30 - 1
5-180048886-G-A c.1676C>T p.T559I Missense 13/30 - 1
5-180048886-GT-CC c.1675_1676delinsGG p.T559G Missense 13/30 - 1
5-180048891-G-A c.1671C>T p.G557= Synonymous 13/30 - 1
5-180048891-G-C c.1671C>G p.G557= Synonymous 13/30 - 1
5-180048891-G-T c.1671C>A p.G557= Synonymous 13/30 - 1
5-180048890-AGCC-A c.1669_1671del p.G557del InFrameDeletion 13/30 - 1
5-180048892-C-A c.1670G>T p.G557V Missense 13/30 - 3
5-180048892-C-T c.1670G>A p.G557D Missense 13/30 - 4
5-180048894-G-A c.1668C>T p.D556= Synonymous 13/30 - 5
5-180048895-GT-G c.1667del p.D556Afs*14 Frameshift 13/30 - 1
5-180048896-C-T c.1666G>A p.D556N Missense 13/30 - 3
5-180048897-G-A c.1665C>T p.P555= Synonymous 13/30 - 1
5-180048897-G-C c.1665C>G p.P555= Synonymous 13/30 - 1
5-180048897-G-T c.1665C>A p.P555= Synonymous 13/30 - 1
5-180048898-G-C c.1664C>G p.P555R Missense 13/30 - 3
5-180048899-G-A c.1663C>T p.P555S Missense 13/30 - 3
5-180048899-G-T c.1663C>A p.P555T Missense 13/30 - 2
5-180048900-G-A c.1662C>T p.I554= Synonymous 13/30 - 5
5-180048900-G-T c.1662C>A p.I554= Synonymous 13/30 - 1
5-180048902-T-A c.1660A>T p.I554F Missense 13/30 - 1
5-180048904-G-A c.1658C>T p.T553I Missense 13/30 - 2
5-180048972-C-A c.1658-68G>T - IntronicSNV - 12/29 3
5-180048972-C-G c.1658-68G>C - IntronicSNV - 12/29 3
5-180048972-C-T c.1658-68G>A - IntronicSNV - 12/29 3
5-180048986-G-A c.1658-82C>T - IntronicSNV - 12/29 1
5-180048986-G-C c.1658-82C>G - IntronicSNV - 12/29 1
5-180048986-G-GCCTCCCTC c.1658-90_1658-83dup - IntronicInsertion - 12/29 5
5-180048986-G-GCCTC c.1658-86_1658-83dup - IntronicInsertion - 12/29 5
5-180049002-C-CT c.1658-99dup - IntronicInsertion - 12/29 2
5-180049003-T-C c.1658-99A>G - IntronicSNV - 12/29 2
5-180049348-C-T c.1657+383G>A - IntronicSNV - 12/29 1
5-180049445-G-A c.1657+286C>T - IntronicSNV - 12/29 1
5-180049525-T-C c.1657+206A>G - IntronicSNV - 12/29 1
5-180049618-A-G c.1657+113T>C - IntronicSNV - 12/29 3
5-180049650-G-T c.1657+81C>A - IntronicSNV - 12/29 1
5-180049663-C-T c.1657+68G>A - IntronicSNV - 12/29 1
5-180049707-C-T c.1657+24G>A - IntronicSNV - 12/29 1
5-180049706-TC-T c.1657+24del - IntronicDeletion - 12/29 1
5-180049731-T-G c.1657A>C p.T553P Missense 12/30 - 1
5-180049733-G-A c.1655C>T p.T552I Missense 12/30 - 1
5-180049733-G-T c.1655C>A p.T552N Missense 12/30 - 4
5-180049737-C-T c.1651G>A p.V551M Missense 12/30 - 1
5-180049739-T-C c.1649A>G p.Y550C Missense 12/30 - 1
5-180049741-G-C c.1647C>G p.F549L Missense 12/30 - 1
5-180049746-A-T c.1642T>A p.Y548N Missense 12/30 - 1
5-180049747-G-A c.1641C>T p.I547= Synonymous 12/30 - 1
5-180049747-G-C c.1641C>G p.I547M Missense 12/30 - 1
5-180049750-G-T c.1638C>A p.L546= Synonymous 12/30 - 2
5-180049752-G-A c.1636C>T p.L546F Missense 12/30 - 2
5-180049754-C-T c.1634G>A p.R545Q Missense 12/30 - 4
5-180049755-G-A c.1633C>T p.R545W Missense 12/30 - 3
5-180049758-C-G c.1630G>C p.E544Q Missense 12/30 - 1
5-180049758-C-T c.1630G>A p.E544K Missense 12/30 - 1
5-180049766-C-A c.1622G>T p.G541V Missense 12/30 - 1
5-180049765-G-GC c.1622dup p.Q542Pfs*3 Frameshift 12/30 - 3
5-180049771-C-A c.1617G>T p.K539N Missense 12/30 - 1
5-180049771-C-T c.1617G>A p.K539= Synonymous 12/30 - 3
5-180049772-T-G c.1616A>C p.K539T Missense 12/30 - 3
5-180049778-G-A c.1610C>T p.S537F Missense 12/30 - 1
5-180049782-C-T c.1606G>A p.V536I Missense 12/30 - 2
5-180049785-C-A c.1603G>T p.V535L Missense 12/30 - 1
5-180049785-C-G c.1603G>C p.V535L Missense 12/30 - 1
5-180049785-C-T c.1603G>A p.V535M Missense 12/30 - 1
5-180049790-T-C c.1598A>G p.K533R Missense 12/30 - 1
5-180049791-T-C c.1597A>G p.K533E Missense 12/30 - 1
5-180049792-G-A c.1596C>T p.Y532= Synonymous 12/30 - 1
5-180049795-AC-A c.1593del p.M531Ifs*21 Frameshift 12/30 - 1
5-180049799-G-A c.1589C>T p.A530V Missense 12/30 - 2
5-180049799-G-T c.1589C>A p.A530D Missense 12/30 - 1
5-180049801-A-C c.1587T>G p.S529= Synonymous 12/30 - 1
5-180049802-G-A c.1586C>T p.S529F Missense 12/30 - 2
5-180049802-G-T c.1586C>A p.S529Y Missense 12/30 - 1
5-180049806-C-A c.1582G>T p.V528L Missense 12/30 - 1
5-180049806-C-G c.1582G>C p.V528L Missense 12/30 - 1
5-180049806-C-T c.1582G>A p.V528M Missense 12/30 - 1
5-180049807-G-A c.1581C>T p.N527= Synonymous 12/30 - 2
5-180049808-T-C c.1580A>G p.N527S Missense 12/30 - 2
5-180049809-T-C c.1579A>G p.N527D Missense 12/30 - 1
5-180049813-A-C c.1575T>G p.N525K Missense 12/30 - 1
5-180049813-A-T c.1575T>A p.N525K Missense 12/30 - 1
5-180049814-T-C c.1574A>G p.N525S Missense 12/30 - 1
5-180049817-T-A c.1571A>T p.Q524L Missense 12/30 - 1
5-180049818-G-C c.1570C>G p.Q524E Missense 12/30 - 1
5-180049830-T-C c.1558A>G p.K520E Missense 12/30 - 1
5-180049832-CT-TA c.1555_1556delinsTA p.S519Y Missense 12/30 - 1
5-180049834-C-A c.1554G>T p.V518= Synonymous 12/30 - 4
5-180049834-C-G c.1554G>C p.V518= Synonymous 12/30 - 4
5-180049834-C-T c.1554G>A p.V518= Synonymous 12/30 - 6
5-180049836-C-T c.1552G>A p.V518M Missense 12/30 - 1
5-180049837-A-T c.1551T>A p.T517= Synonymous 12/30 - 2
5-180049838-G-T c.1550C>A p.T517N Missense 12/30 - 1
5-180049907-G-A c.1549-68C>T - IntronicSNV - 11/29 6
5-180049926-C-CCG c.1549-88_1549-87insCG - IntronicInsertion - 11/29 4
5-180049928-A-C c.1549-89T>G - IntronicSNV - 11/29 3
5-180049928-A-G c.1549-89T>C - IntronicSNV - 11/29 3
5-180049928-A-T c.1549-89T>A - IntronicSNV - 11/29 3
5-180050148-T-C c.1549-309A>G - IntronicSNV - 11/29 2
5-180050148-T-G c.1549-309A>C - IntronicSNV - 11/29 2
5-180050808-A-G c.1548+127T>C - IntronicSNV - 11/29 1
5-180050936-T-A c.1547A>T p.K516M Missense 11/30 - 1
5-180050937-T-C c.1546A>G p.K516E Missense 11/30 - 3
5-180050939-T-C c.1544A>G p.N515S Missense 11/30 - 2
5-180050943-T-A c.1540A>T p.K514* Nonsense 11/30 - 2
5-180050945-C-T c.1538G>A p.G513E Missense 11/30 - 2
5-180050947-C-T c.1536G>A p.E512= Synonymous 11/30 - 1
5-180050949-C-T c.1534G>A p.E512K Missense 11/30 - 5
5-180050951-A-G c.1532T>C p.V511A Missense 11/30 - 1
5-180050956-C-A c.1527G>T p.E509D Missense 11/30 - 1
5-180050956-C-G c.1527G>C p.E509D Missense 11/30 - 1
5-180050957-T-C c.1526A>G p.E509G Missense 11/30 - 2
5-180050957-T-G c.1526A>C p.E509A Missense 11/30 - 2
5-180050958-C-A c.1525G>T p.E509* Nonsense 11/30 - 3
5-180050958-C-T c.1525G>A p.E509K Missense 11/30 - 11
5-180050960-G-A c.1523C>T p.T508I Missense 11/30 - 2
5-180050962-C-A c.1521G>T p.W507C Missense 11/30 - 2
5-180050962-C-G c.1521G>C p.W507C Missense 11/30 - 1
5-180050962-C-T c.1521G>A p.W507* Nonsense 11/30 - 1
5-180050966-G-A c.1517C>T p.T506I Missense 11/30 - 1
5-180050975-C-G c.1508G>C p.S503T Missense 11/30 - 1
5-180050975-C-T c.1508G>A p.S503N Missense 11/30 - 2
5-180050977-C-A c.1506G>T p.E502D Missense 11/30 - 1
5-180050977-C-G c.1506G>C p.E502D Missense 11/30 - 4
5-180050979-C-T c.1504G>A p.E502K Missense 11/30 - 15
5-180050984-G-A c.1499C>T p.P500L Missense 11/30 - 4
5-180050985-G-T c.1498C>A p.P500T Missense 11/30 - 1
5-180050986-G-A c.1497C>T p.N499= Synonymous 11/30 - 1
5-180050991-C-A c.1492G>T p.V498L Missense 11/30 - 2
5-180050991-C-G c.1492G>C p.V498L Missense 11/30 - 1
5-180050991-C-T c.1492G>A p.V498M Missense 11/30 - 1
5-180050992-G-A c.1491C>T p.A497= Synonymous 11/30 - 2
5-180050992-G-C c.1491C>G p.A497= Synonymous 11/30 - 2
5-180050992-G-T c.1491C>A p.A497= Synonymous 11/30 - 2
5-180050993-G-A c.1490C>T p.A497V Missense 11/30 - 7
5-180050994-C-A c.1489G>T p.A497S Missense 11/30 - 1
5-180050996-T-A c.1487A>T p.D496V Missense 11/30 - 1
5-180050997-C-T c.1486G>A p.D496N Missense 11/30 - 1
5-180050998-C-T c.1485G>A p.Q495= Synonymous 11/30 - 2
5-180051002-G-A c.1481C>T p.T494M Missense 11/30 - 2
5-180051003-T-A c.1480A>T p.T494S Missense 11/30 - 39
5-180051003-T-C c.1480A>G p.T494A Missense 11/30 - 58
5-180051005-G-A c.1478C>T p.T493I Missense 11/30 - 2
5-180051008-CA-C c.1475del p.V492Gfs*7 Frameshift 11/30 - 1
5-180051009-C-A c.1474G>T p.V492L Missense 11/30 - 1
5-180051009-C-G c.1474G>C p.V492L Missense 11/30 - 1
5-180051009-C-T c.1474G>A p.V492M Missense 11/30 - 2
5-180051010-C-A c.1473G>T p.A491= Synonymous 11/30 - 1
5-180051011-G-A c.1472C>T p.A491V Missense 11/30 - 7
5-180051011-G-T c.1472C>A p.A491E Missense 11/30 - 1
5-180051014-C-A c.1469G>T p.R490M Missense 11/30 - 1
5-180051014-C-T c.1469G>A p.R490K Missense 11/30 - 1
5-180051015-T-C c.1468A>G p.R490G Missense 11/30 - 3
5-180051016-C-T c.1467G>A p.W489* Nonsense 11/30 - 6
5-180051017-C-T c.1466G>A p.W489* Nonsense 11/30 - 2
5-180051022-ACG-CCA c.1459_1461delinsTGG p.R487W Missense 11/30 - 1
5-180051023-C-T c.1460G>A p.R487H Missense 11/30 - 2
5-180051024-G-A c.1459C>T p.R487C Missense 11/30 - 1
5-180051026-C-G c.1457G>C p.C486S Missense 11/30 - 1
5-180051027-A-G c.1456T>C p.C486R Missense 11/30 - 2
5-180051027-A-T c.1456T>A p.C486S Missense 11/30 - 1
5-180051032-G-T c.1451C>A p.P484Q Missense 11/30 - 2
5-180051033-G-A c.1450C>T p.P484S Missense 11/30 - 2
5-180051037-G-A c.1446C>T p.L482= Synonymous 11/30 - 1
5-180051037-G-C c.1446C>G p.L482= Synonymous 11/30 - 1
5-180051037-G-T c.1446C>A p.L482= Synonymous 11/30 - 1
5-180051043-T-A c.1440A>T p.Q480H Missense 11/30 - 1
5-180051043-T-G c.1440A>C p.Q480H Missense 11/30 - 2
5-180051046-C-A c.1437G>T p.Q479H Missense 11/30 - 1
5-180051046-C-G c.1437G>C p.Q479H Missense 11/30 - 3
5-180051046-C-T c.1437G>A p.Q479= Synonymous 11/30 - 1
5-180051049-C-T c.1434G>A p.Q478= Synonymous 11/30 - 1
5-180051050-T-C c.1433A>G p.Q478R Missense 11/30 - 1
5-180051052-C-T c.1431G>A p.R477= Synonymous 11/30 - 3
5-180051053-C-T c.1430G>A p.R477Q Missense 11/30 - 5
5-180051054-G-A c.1429C>T p.R477W Missense 11/30 - 1
5-180051055-CCG-ACA c.1426_1428delinsTGT p.R476C Missense 11/30 - 1
5-180051056-C-T c.1427G>A p.R476Q Missense 11/30 - 1
5-180051057-G-A c.1426C>T p.R476W Missense 11/30 - 4
5-180051057-G-C c.1426C>G p.R476G Missense 11/30 - 1
5-180051058-CC-AT c.1424_1425delinsAT p.R475H Missense 11/30 - 1
5-180051058-CCG-ACA c.1423_1425delinsTGT p.R475C Missense 11/30 - 1
5-180051059-C-T c.1424G>A p.R475Q Missense 11/30 - 5
5-180051058-C-A c.1425G>T p.R475= Synonymous 11/30 - 1
5-180051058-C-G c.1425G>C p.R475= Synonymous 11/30 - 1
5-180051058-C-T c.1425G>A p.R475= Synonymous 11/30 - 1
5-180051060-G-A c.1423C>T p.R475W Missense 11/30 - 4
5-180051060-G-T c.1423C>A p.R475= Synonymous 11/30 - 1
5-180051061-G-A c.1422C>T p.L474= Synonymous 11/30 - 1
5-180051118-A-G c.1422-57T>C - IntronicSNV - 10/29 1
5-180051118-A-T c.1422-57T>A - IntronicSNV - 10/29 1
5-180051144-A-C c.1422-83T>G - IntronicSNV - 10/29 1
5-180051296-A-C c.1422-235T>G - IntronicSNV - 10/29 2
5-180051296-A-G c.1422-235T>C - IntronicSNV - 10/29 2
5-180051987-T-C c.1421+882A>G - IntronicSNV - 10/29 1
5-180052108-C-T c.1421+761G>A - IntronicSNV - 10/29 3
5-180052817-G-A c.1421+52C>T - IntronicSNV - 10/29 3
5-180052831-TGGCTGTGCAGGGGACCTGA-T c.1421+19_1421+37del - IntronicDeletion - 10/29 1
5-180052868-C-T c.1421+1G>A - IntronicSNV - 10/29 1
5-180052870-G-C c.1420C>G p.L474V Missense 10/30 - 2
5-180052875-C-T c.1415G>A p.R472H Missense 10/30 - 3
5-180052876-G-A c.1414C>T p.R472C Missense 10/30 - 2
5-180052876-G-T c.1414C>A p.R472S Missense 10/30 - 1
5-180052879-G-T c.1411C>A p.Q471K Missense 10/30 - 1
5-180052881-G-C c.1409C>G p.A470G Missense 10/30 - 1
5-180052882-C-A c.1408G>T p.A470S Missense 10/30 - 1
5-180052882-C-G c.1408G>C p.A470P Missense 10/30 - 1
5-180052886-C-T c.1404G>A p.M468I Missense 10/30 - 1
5-180052892-G-A c.1398C>T p.C466= Synonymous 10/30 - 1
5-180052893-CA-GT c.1396_1397delinsAC p.C466T Missense 10/30 - 1
5-180052893-C-T c.1397G>A p.C466Y Missense 10/30 - 1
5-180052895-G-T c.1395C>A p.P465= Synonymous 10/30 - 2
5-180052897-G-C c.1393C>G p.P465A Missense 10/30 - 2
5-180052899-G-T c.1391C>A p.T464K Missense 10/30 - 1
5-180052903-A-G c.1387T>C p.W463R Missense 10/30 - 1
5-180052905-G-A c.1385C>T p.P462L Missense 10/30 - 2
5-180052905-G-C c.1385C>G p.P462R Missense 10/30 - 1
5-180052907-CCG-ACA c.1381_1383delinsTGT p.R461C Missense 10/30 - 1
5-180052908-C-A c.1382G>T p.R461L Missense 10/30 - 1
5-180052908-C-G c.1382G>C p.R461P Missense 10/30 - 2
5-180052908-C-T c.1382G>A p.R461Q Missense 10/30 - 2
5-180052909-G-A c.1381C>T p.R461W Missense 10/30 - 1
5-180052912-A-T c.1378T>A p.W460R Missense 10/30 - 1
5-180052917-C-A c.1373G>T p.W458L Missense 10/30 - 1
5-180052919-C-T c.1371G>A p.Q457= Synonymous 10/30 - 1
5-180052920-T-C c.1370A>G p.Q457R Missense 10/30 - 2
5-180052921-G-C c.1369C>G p.Q457E Missense 10/30 - 1
5-180052926-C-A c.1364G>T p.S455I Missense 10/30 - 1
5-180052929-A-T c.1361T>A p.L454H Missense 10/30 - 2
5-180052930-G-C c.1360C>G p.L454V Missense 10/30 - 1
5-180052931-A-C c.1359T>G p.P453= Synonymous 10/30 - 1
5-180052935-A-T c.1355T>A p.L452Q Missense 10/30 - 1
5-180052936-G-A c.1354C>T p.L452= Synonymous 10/30 - 1
5-180052938-G-A c.1352C>T p.P451L Missense 10/30 - 1
5-180052935-AG-A c.1354del p.L452Cfs*41 Frameshift 10/30 - 1
5-180052939-G-A c.1351C>T p.P451S Missense 10/30 - 2
5-180052940-C-A c.1350G>T p.V450= Synonymous 10/30 - 2
5-180052940-C-G c.1350G>C p.V450= Synonymous 10/30 - 1
5-180052941-A-G c.1349T>C p.V450A Missense 10/30 - 1
5-180052946-G-A c.1344C>T p.Y448= Synonymous 10/30 - 8
5-180052946-G-C c.1344C>G p.Y448* Nonsense 10/30 - 2
5-180052946-G-T c.1344C>A p.Y448* Nonsense 10/30 - 2
5-180052953-CG-C c.1337del p.T446Rfs*47 Frameshift 10/30 - 1
5-180052953-G-A c.1337C>T p.T446M Missense 10/30 - 3
5-180052953-GT-TC c.1336_1337delinsGA p.T446E Missense 10/30 - 1
5-180052954-T-C c.1336A>G p.T446A Missense 10/30 - 1
5-180052955-G-C c.1335C>G p.C445W Missense 10/30 - 1
5-180052957-AG-A c.1332del p.C445Afs*48 Frameshift 10/30 - 1
5-180052960-T-G c.1330A>C p.T444P Missense 10/30 - 1
5-180052961-G-A c.1329C>T p.L443= Synonymous 10/30 - 1
5-180052962-A-T c.1328T>A p.L443H Missense 10/30 - 1
5-180052963-G-A c.1327C>T p.L443F Missense 10/30 - 1
5-180052964-G-A c.1326C>T p.A442= Synonymous 10/30 - 3
5-180052965-G-A c.1325C>T p.A442V Missense 10/30 - 3
5-180052966-C-T c.1324G>A p.A442T Missense 10/30 - 1
5-180052969-G-A c.1321C>T p.Q441* Nonsense 10/30 - 1
5-180052970-G-C c.1320C>G p.R440= Synonymous 10/30 - 2
5-180052970-GCG-TCA c.1318_1320delinsTGA p.R440* Nonsense 10/30 - 1
5-180052971-C-T c.1319G>A p.R440H Missense 10/30 - 2
5-180052972-G-A c.1318C>T p.R440C Missense 10/30 - 1
5-180052973-G-A c.1317C>T p.S439= Synonymous 10/30 - 1
5-180052973-G-C c.1317C>G p.S439R Missense 10/30 - 3
5-180052973-G-T c.1317C>A p.S439R Missense 10/30 - 5
5-180052975-T-G c.1315A>C p.S439R Missense 10/30 - 3
5-180052974-C-G c.1316G>C p.S439T Missense 10/30 - 2
5-180052978-G-A c.1312C>T p.H438Y Missense 10/30 - 2
5-180052979-ACG-TCA c.1309_1311delinsTGA p.R437* Nonsense 10/30 - 1
5-180052980-C-T c.1310G>A p.R437H Missense 10/30 - 4
5-180052981-G-A c.1309C>T p.R437C Missense 10/30 - 3
5-180052982-C-G c.1308G>C p.S436= Synonymous 10/30 - 3
5-180052982-C-T c.1308G>A p.S436= Synonymous 10/30 - 4
5-180052983-G-A c.1307C>T p.S436L Missense 10/30 - 1
5-180052990-T-C c.1300A>G p.I434V Missense 10/30 - 1
5-180052991-G-A c.1299C>T p.S433= Synonymous 10/30 - 1
5-180052992-C-G c.1298G>C p.S433T Missense 10/30 - 1
5-180052992-C-T c.1298G>A p.S433N Missense 10/30 - 1
5-180052995-G-A c.1295C>T p.P432L Missense 10/30 - 1
5-180052995-G-T c.1295C>A p.P432H Missense 10/30 - 2
5-180052996-G-A c.1294C>T p.P432S Missense 10/30 - 1
5-180052993-TG-T c.1296del p.S433Afs*60 Frameshift 10/30 - 2
5-180052998-G-A c.1292C>T p.S431F Missense 10/30 - 3
5-180052999-A-C c.1291T>G p.S431A Missense 10/30 - 1
5-180053001-G-A c.1289C>T p.S430F Missense 10/30 - 9
5-180053002-A-C c.1288T>G p.S430A Missense 10/30 - 5
5-180053005-C-T c.1285G>A p.A429T Missense 10/30 - 1
5-180053006-C-T c.1284G>A p.E428= Synonymous 10/30 - 1
5-180053009-C-T c.1281G>A p.K427= Synonymous 10/30 - 1
5-180053008-CCTT-C c.1279_1281del p.K427del InFrameDeletion 10/30 - 1
5-180053013-T-A c.1277A>T p.E426V Missense 10/30 - 1
5-180053014-C-G c.1276G>C p.E426Q Missense 10/30 - 1
5-180053014-C-T c.1276G>A p.E426K Missense 10/30 - 1
5-180053015-A-C c.1275T>G p.H425Q Missense 10/30 - 3
5-180053019-ATC-A c.1269_1270del p.Q423Hfs*3 Frameshift 10/30 - 3
5-180053021-C-A c.1269G>T p.Q423H Missense 10/30 - 2
5-180053021-C-CG c.1268_1269insC p.Q423Hfs*4 Frameshift 10/30 - 1
5-180053021-C-G c.1269G>C p.Q423H Missense 10/30 - 3
5-180053022-CT-C c.1268del p.Q423Rfs*70 Frameshift 10/30 - 2
5-180053023-G-T c.1267C>A p.Q423K Missense 10/30 - 2
5-180053024-G-A c.1266C>T p.P422= Synonymous 10/30 - 2
5-180053024-G-C c.1266C>G p.P422= Synonymous 10/30 - 1
5-180053024-G-T c.1266C>A p.P422= Synonymous 10/30 - 1
5-180053022-TG-T c.1267del p.Q423Rfs*70 Frameshift 10/30 - 8
5-180053022-T-TG c.1267dup p.Q423Pfs*4 Frameshift 10/30 - 5
5-180053029-G-A c.1261C>T p.P421S Missense 10/30 - 6
5-180053089-C-T c.1258+22G>A - IntronicSNV - 9/29 1
5-180053090-G-A c.1258+21C>T - IntronicSNV - 9/29 10
5-180053097-C-T c.1258+14G>A - IntronicSNV - 9/29 9
5-180053100-CCCTGA-C c.1258+6_1258+10del - IntronicDeletion - 9/29 1
5-180053111-C-A c.1258G>T p.V420L Missense 9/30 - 1
5-180053111-C-G c.1258G>C p.V420L Missense 9/30 - 1
5-180053111-C-T c.1258G>A p.V420M Missense 9/30 - 1
5-180053114-T-C c.1255A>G p.N419D Missense 9/30 - 1
5-180053119-A-T c.1250T>A p.V417E Missense 9/30 - 1
5-180053120-C-A c.1249G>T p.V417L Missense 9/30 - 1
5-180053120-C-G c.1249G>C p.V417L Missense 9/30 - 1
5-180053121-C-A c.1248G>T p.L416= Synonymous 9/30 - 1
5-180053121-C-G c.1248G>C p.L416= Synonymous 9/30 - 1
5-180053121-C-T c.1248G>A p.L416= Synonymous 9/30 - 1
5-180053123-G-A c.1246C>T p.L416= Synonymous 9/30 - 1
5-180053122-AG-TA c.1246_1247delinsTA p.L416* Nonsense 9/30 - 1
5-180053122-A-T c.1247T>A p.L416Q Missense 9/30 - 1
5-180053124-C-A c.1245G>T p.E415D Missense 9/30 - 1
5-180053124-C-G c.1245G>C p.E415D Missense 9/30 - 1
5-180053126-C-G c.1243G>C p.E415Q Missense 9/30 - 1
5-180053126-C-T c.1243G>A p.E415K Missense 9/30 - 1
5-180053135-T-A c.1234A>T p.I412F Missense 9/30 - 1
5-180053135-T-C c.1234A>G p.I412V Missense 9/30 - 1
5-180053140-C-T c.1229G>A p.R410H Missense 9/30 - 5
5-180053141-G-A c.1228C>T p.R410C Missense 9/30 - 6
5-180053146-A-G c.1223T>C p.L408P Missense 9/30 - 1
5-180053147-G-T c.1222C>A p.L408M Missense 9/30 - 1
5-180053153-C-T c.1216G>A p.A406T Missense 9/30 - 1
5-180053156-C-A c.1213G>T p.A405S Missense 9/30 - 2
5-180053156-C-T c.1213G>A p.A405T Missense 9/30 - 7
5-180053157-G-A c.1212C>T p.S404= Synonymous 9/30 - 1
5-180053156-CGGA-C c.1210_1212del p.S404del InFrameDeletion 9/30 - 1
5-180053160-G-C c.1209C>G p.N403K Missense 9/30 - 1
5-180053160-GT-G c.1208del p.N403Tfs*6 Frameshift 9/30 - 1
5-180053163-C-A c.1206G>T p.W402C Missense 9/30 - 1
5-180053163-C-T c.1206G>A p.W402* Nonsense 9/30 - 1
5-180053167-A-G c.1202T>C p.L401P Missense 9/30 - 1
5-180053169-G-A c.1200C>T p.A400= Synonymous 9/30 - 2
5-180053169-G-C c.1200C>G p.A400= Synonymous 9/30 - 1
5-180053169-G-T c.1200C>A p.A400= Synonymous 9/30 - 1
5-180053170-G-A c.1199C>T p.A400V Missense 9/30 - 1
5-180053171-C-A c.1198G>T p.A400S Missense 9/30 - 1
5-180053171-C-T c.1198G>A p.A400T Missense 9/30 - 1
5-180053172-G-A c.1197C>T p.L399= Synonymous 9/30 - 2
5-180053174-G-C c.1195C>G p.L399V Missense 9/30 - 1
5-180053174-G-T c.1195C>A p.L399I Missense 9/30 - 1
5-180053175-G-A c.1194C>T p.T398= Synonymous 9/30 - 3
5-180053175-G-C c.1194C>G p.T398= Synonymous 9/30 - 1
5-180053176-G-A c.1193C>T p.T398I Missense 9/30 - 2
5-180053176-G-T c.1193C>A p.T398N Missense 9/30 - 1
5-180053178-G-C c.1191C>G p.Y397* Nonsense 9/30 - 1
5-180053178-G-T c.1191C>A p.Y397* Nonsense 9/30 - 1
5-180053179-T-A c.1190A>T p.Y397F Missense 9/30 - 2
5-180053181-G-A c.1188C>T p.T396= Synonymous 9/30 - 1
5-180053181-G-C c.1188C>G p.T396= Synonymous 9/30 - 1
5-180053181-GG-CA c.1187_1188delinsTG p.T396M Missense 9/30 - 1
5-180053181-G-T c.1188C>A p.T396= Synonymous 9/30 - 1
5-180053185-C-G c.1184G>C p.G395A Missense 9/30 - 1
5-180053185-C-T c.1184G>A p.G395D Missense 9/30 - 2
5-180053186-C-T c.1183G>A p.G395S Missense 9/30 - 1
5-180053188-G-T c.1181C>A p.T394K Missense 9/30 - 1
5-180053189-T-A c.1180A>T p.T394S Missense 9/30 - 2
5-180053190-G-C c.1179C>G p.S393R Missense 9/30 - 1
5-180053190-G-T c.1179C>A p.S393R Missense 9/30 - 1
5-180053192-T-G c.1177A>C p.S393R Missense 9/30 - 1
5-180053191-C-T c.1178G>A p.S393N Missense 9/30 - 1
5-180053192-T-A c.1177A>T p.S393C Missense 9/30 - 1
5-180053194-G-T c.1175C>A p.A392D Missense 9/30 - 3
5-180053195-C-T c.1174G>A p.A392T Missense 9/30 - 1
5-180053196-C-A c.1173G>T p.E391D Missense 9/30 - 2
5-180053196-C-G c.1173G>C p.E391D Missense 9/30 - 1
5-180053195-CCT-C c.1172_1173del p.E391Gfs*35 Frameshift 9/30 - 1
5-180053199-CT-C c.1170del p.E391Rfs*18 Frameshift 9/30 - 1
5-180053200-G-T c.1169C>A p.T390K Missense 9/30 - 2
5-180053204-C-T c.1165G>A p.V389M Missense 9/30 - 2
5-180053205-C-T c.1164G>A p.E388= Synonymous 9/30 - 1
5-180053206-T-C c.1163A>G p.E388G Missense 9/30 - 1
5-180053207-C-G c.1162G>C p.E388Q Missense 9/30 - 3
5-180053207-C-T c.1162G>A p.E388K Missense 9/30 - 4
5-180053208-C-A c.1161G>T p.K387N Missense 9/30 - 1
5-180053208-C-G c.1161G>C p.K387N Missense 9/30 - 1
5-180053216-C-A c.1153G>T p.V385L Missense 9/30 - 1
5-180053222-C-A c.1147G>T p.A383S Missense 9/30 - 2
5-180053227-G-T c.1142C>A p.P381Q Missense 9/30 - 1
5-180053229-A-C c.1140T>G p.S380R Missense 9/30 - 1
5-180053229-A-T c.1140T>A p.S380R Missense 9/30 - 1
5-180053231-T-G c.1138A>C p.S380R Missense 9/30 - 1
5-180053230-CT-AG c.1138_1139inv p.S380L Missense 9/30 - 1
5-180053232-G-C c.1137C>G p.H379Q Missense 9/30 - 1
5-180053232-G-T c.1137C>A p.H379Q Missense 9/30 - 1
5-180053236-C-T c.1133G>A p.R378H Missense 9/30 - 5
5-180053237-G-A c.1132C>T p.R378C Missense 9/30 - 12
5-180053237-G-T c.1132C>A p.R378S Missense 9/30 - 1
5-180053239-C-A c.1130G>T p.G377V Missense 9/30 - 1
5-180053240-C-A c.1129G>T p.G377W Missense 9/30 - 1
5-180053240-C-G c.1129G>C p.G377R Missense 9/30 - 1
5-180053240-C-T c.1129G>A p.G377R Missense 9/30 - 3
5-180053241-G-A c.1128C>T p.S376= Synonymous 9/30 - 2
5-180053242-G-A c.1127C>T p.S376F Missense 9/30 - 2
5-180053242-G-T c.1127C>A p.S376Y Missense 9/30 - 1
5-180053243-A-T c.1126T>A p.S376T Missense 9/30 - 2
5-180053244-C-T c.1125G>A p.L375= Synonymous 9/30 - 1
5-180053245-A-G c.1124T>C p.L375P Missense 9/30 - 1
5-180053246-G-T c.1123C>A p.L375M Missense 9/30 - 1
5-180053247-GT-G c.1122del p.L375Cfs*15 Frameshift 9/30 - 1
5-180053249-C-T c.1120G>A p.A374T Missense 9/30 - 4
5-180053252-T-C c.1117A>G p.K373E Missense 9/30 - 1
5-180053255-C-G c.1114G>C p.G372R Missense 9/30 - 1
5-180053255-C-T c.1114G>A p.G372R Missense 9/30 - 1
5-180053258-C-T c.1111G>A p.D371N Missense 9/30 - 2
5-180053259-C-A c.1110G>T p.K370N Missense 9/30 - 5
5-180053259-C-G c.1110G>C p.K370N Missense 9/30 - 4
5-180053262-G-C c.1107C>G p.Y369* Nonsense 9/30 - 4
5-180053262-G-T c.1107C>A p.Y369* Nonsense 9/30 - 4
5-180053263-T-A c.1106A>T p.Y369F Missense 9/30 - 2
5-180053307-A-C c.1104-42T>G - IntronicSNV - 8/29 9
5-180053307-A-G c.1104-42T>C - IntronicSNV - 8/29 9
5-180053307-A-T c.1104-42T>A - IntronicSNV - 8/29 9
5-180053387-C-T c.1104-122G>A - IntronicSNV - 8/29 3
5-180055188-A-C c.1103+694T>G - IntronicSNV - 8/29 3
5-180055188-A-G c.1103+694T>C - IntronicSNV - 8/29 3
5-180055527-G-C c.1103+355C>G - IntronicSNV - 8/29 1
5-180055849-T-C c.1103+33A>G - IntronicSNV - 8/29 3
5-180055849-T-G c.1103+33A>C - IntronicSNV - 8/29 9
5-180055862-GT-G c.1103+20del - IntronicDeletion - 8/29 1
5-180055862-T-C c.1103+20A>G - IntronicSNV - 8/29 7
5-180055862-T-G c.1103+20A>C - IntronicSNV - 8/29 11
5-180055864-G-A c.1103+18C>T - IntronicSNV - 8/29 6
5-180053265-C-T c.1104G>A p.W368* Nonsense 9/30 - 1
5-180055882-C-T c.1103G>A p.W368* Nonsense 8/30 - 1
5-180055883-A-G c.1102T>C p.W368R Missense 8/30 - 1
5-180055883-A-T c.1102T>A p.W368R Missense 8/30 - 1
5-180055884-C-T c.1101G>A p.Q367= Synonymous 8/30 - 2
5-180055885-T-C c.1100A>G p.Q367R Missense 8/30 - 1
5-180055885-TG-GA c.1099_1100delinsTC p.Q367S Missense 8/30 - 1
5-180055886-G-A c.1099C>T p.Q367* Nonsense 8/30 - 1
5-180055887-G-A c.1098C>T p.F366= Synonymous 8/30 - 1
5-180055888-A-G c.1097T>C p.F366S Missense 8/30 - 2
5-180055887-G-C c.1098C>G p.F366L Missense 8/30 - 2
5-180055887-G-T c.1098C>A p.F366L Missense 8/30 - 2
5-180055889-A-G c.1096T>C p.F366L Missense 8/30 - 2
5-180055890-AC-A c.1095del p.E365Dfs*25 Frameshift 8/30 - 1
5-180055891-CTCGGGCG-C c.1088_1094del p.P363Rfs*25 Frameshift 8/30 - 3
5-180055892-C-A c.1093G>T p.E365* Nonsense 8/30 - 1
5-180055892-C-T c.1093G>A p.E365K Missense 8/30 - 2
5-180055893-G-A c.1092C>T p.P364= Synonymous 8/30 - 2
5-180055893-G-C c.1092C>G p.P364= Synonymous 8/30 - 1
5-180055893-G-T c.1092C>A p.P364= Synonymous 8/30 - 1
5-180055894-G-A c.1091C>T p.P364L Missense 8/30 - 2
5-180055895-G-A c.1090C>T p.P364S Missense 8/30 - 1
5-180055896-C-A c.1089G>T p.P363= Synonymous 8/30 - 1
5-180055896-C-G c.1089G>C p.P363= Synonymous 8/30 - 1
5-180055896-CG-AT c.1088_1089delinsAT p.P363H Missense 8/30 - 1
5-180055896-C-T c.1089G>A p.P363= Synonymous 8/30 - 1
5-180055897-G-A c.1088C>T p.P363L Missense 8/30 - 1
5-180055897-G-T c.1088C>A p.P363Q Missense 8/30 - 1
5-180055898-G-T c.1087C>A p.P363T Missense 8/30 - 1
5-180055899-G-A c.1086C>T p.P362= Synonymous 8/30 - 1
5-180055899-G-C c.1086C>G p.P362= Synonymous 8/30 - 1
5-180055899-G-T c.1086C>A p.P362= Synonymous 8/30 - 1
5-180055900-G-A c.1085C>T p.P362L Missense 8/30 - 2
5-180055896-CG-C c.1088del p.P363Rfs*27 Frameshift 8/30 - 3
5-180055902-G-C c.1083C>G p.Y361* Nonsense 8/30 - 6
5-180055902-G-T c.1083C>A p.Y361* Nonsense 8/30 - 6
5-180055903-T-G c.1082A>C p.Y361S Missense 8/30 - 1
5-180055904-A-G c.1081T>C p.Y361H Missense 8/30 - 1
5-180055905-C-A c.1080G>T p.A360= Synonymous 8/30 - 1
5-180055905-C-G c.1080G>C p.A360= Synonymous 8/30 - 1
5-180055905-C-T c.1080G>A p.A360= Synonymous 8/30 - 1
5-180055906-G-A c.1079C>T p.A360V Missense 8/30 - 4
5-180055907-CT-GA c.1077_1078delinsTC p.A360P Missense 8/30 - 1
5-180055909-G-A c.1076C>T p.A359V Missense 8/30 - 1
5-180055910-C-T c.1075G>A p.A359T Missense 8/30 - 1
5-180055913-GCTT-G c.1069_1071del p.K357del InFrameDeletion 8/30 - 1
5-180055917-C-A c.1068G>T p.V356= Synonymous 8/30 - 1
5-180055917-C-G c.1068G>C p.V356= Synonymous 8/30 - 1
5-180055917-C-T c.1068G>A p.V356= Synonymous 8/30 - 1
5-180055919-C-T c.1066G>A p.V356M Missense 8/30 - 5
5-180055910-CCAGCTTCACGGG-C c.1063_1074del p.P355_L358del InFrameDeletion 8/30 - 1
5-180055923-C-A c.1062G>T p.L354= Synonymous 8/30 - 1
5-180055923-C-G c.1062G>C p.L354= Synonymous 8/30 - 1
5-180055923-C-T c.1062G>A p.L354= Synonymous 8/30 - 1
5-180055925-G-A c.1060C>T p.L354= Synonymous 8/30 - 1
5-180055924-A-T c.1061T>A p.L354Q Missense 8/30 - 1
5-180055926-C-T c.1059G>A p.K353= Synonymous 8/30 - 1
5-180055928-T-A c.1057A>T p.K353* Nonsense 8/30 - 2
5-180055931-C-T c.1054G>A p.V352M Missense 8/30 - 2
5-180055934-G-C c.1051C>G p.L351V Missense 8/30 - 1
5-180055937-C-G c.1048G>C p.E350Q Missense 8/30 - 4
5-180055937-C-T c.1048G>A p.E350K Missense 8/30 - 2
5-180055938-G-A c.1047C>T p.D349= Synonymous 8/30 - 1
5-180055941-TCC-ACA c.1042_1044delinsTGT p.G348C Missense 8/30 - 1
5-180055943-C-G c.1042G>C p.G348R Missense 8/30 - 1
5-180055943-C-T c.1042G>A p.G348R Missense 8/30 - 2
5-180055946-C-T c.1039G>A p.A347T Missense 8/30 - 3
5-180055947-C-G c.1038G>C p.T346= Synonymous 8/30 - 1
5-180055947-C-T c.1038G>A p.T346= Synonymous 8/30 - 1
5-180055948-CG-C c.1037del p.T346Rfs*7 Frameshift 8/30 - 1
5-180055948-G-A c.1037C>T p.T346M Missense 8/30 - 3
5-180055949-T-C c.1036A>G p.T346A Missense 8/30 - 1
5-180055951-G-C c.1034C>G p.A345G Missense 8/30 - 1
5-180055952-C-T c.1033G>A p.A345T Missense 8/30 - 4
5-180055951-GC-G c.1033del p.A345Pfs*8 Frameshift 8/30 - 1
5-180055951-GCCT-G c.1031_1033del p.E344del InFrameDeletion 8/30 - 1
5-180055954-T-C c.1031A>G p.E344G Missense 8/30 - 1
5-180055955-C-T c.1030G>A p.E344K Missense 8/30 - 1
5-180055956-C-T c.1029G>A p.L343= Synonymous 8/30 - 1
5-180055957-A-T c.1028T>A p.L343Q Missense 8/30 - 1
5-180055958-G-A c.1027C>T p.L343= Synonymous 8/30 - 4
5-180055961-T-A c.1024A>T p.I342F Missense 8/30 - 1
5-180055962-G-A c.1023C>T p.P341= Synonymous 8/30 - 2
5-180055963-G-A c.1022C>T p.P341L Missense 8/30 - 1
5-180055963-G-T c.1022C>A p.P341H Missense 8/30 - 2
5-180055961-TG-T c.1023del p.I342Sfs*11 Frameshift 8/30 - 1
5-180055964-G-A c.1021C>T p.P341S Missense 8/30 - 1
5-180055964-G-C c.1021C>G p.P341A Missense 8/30 - 1
5-180055964-G-T c.1021C>A p.P341T Missense 8/30 - 1
5-180055966-C-T c.1019G>A p.G340E Missense 8/30 - 1
5-180055967-CT-C c.1017del p.G340Dfs*13 Frameshift 8/30 - 1
5-180055973-G-C c.1012C>G p.L338V Missense 8/30 - 1
5-180055974-C-T c.1011G>A p.W337* Nonsense 8/30 - 1
5-180055979-C-T c.1006G>A p.E336K Missense 8/30 - 1
5-180055980-G-A c.1005C>T p.V335= Synonymous 8/30 - 1
5-180055982-C-G c.1003G>C p.V335L Missense 8/30 - 1
5-180055982-C-T c.1003G>A p.V335I Missense 8/30 - 5
5-180055987-A-T c.998T>A p.I333N Missense 8/30 - 1
5-180055991-A-G c.994T>C p.F332L Missense 8/30 - 1
5-180055993-G-A c.992C>T p.P331L Missense 8/30 - 4
5-180055994-G-A c.991C>T p.P331S Missense 8/30 - 5
5-180055994-G-T c.991C>A p.P331T Missense 8/30 - 1
5-180055999-T-C c.986A>G p.E329G Missense 8/30 - 1
5-180056004-C-T c.986-5G>A - IntronicSNV - 7/29 1
5-180056044-G-A c.986-45C>T - IntronicSNV - 7/29 7
5-180056044-G-C c.986-45C>G - IntronicSNV - 7/29 7
5-180056192-T-A c.985+67A>T - IntronicSNV - 7/29 1
5-180056192-T-C c.985+67A>G - IntronicSNV - 7/29 3
5-180056192-T-G c.985+67A>C - IntronicSNV - 7/29 1
5-180056259-C-T c.985G>A p.E329K Missense 7/30 - 4
5-180056261-T-G c.983A>C p.H328P Missense 7/30 - 1
5-180056268-T-C c.976A>G p.I326V Missense 7/30 - 1
5-180056274-C-T c.970G>A p.E324K Missense 7/30 - 2
5-180056275-G-A c.969C>T p.T323= Synonymous 7/30 - 2
5-180056276-G-A c.968C>T p.T323I Missense 7/30 - 4
5-180056278-G-C c.966C>G p.S322R Missense 7/30 - 1
5-180056278-G-T c.966C>A p.S322R Missense 7/30 - 1
5-180056280-T-G c.964A>C p.S322R Missense 7/30 - 1
5-180056281-C-A c.963G>T p.E321D Missense 7/30 - 1
5-180056283-C-G c.961G>C p.E321Q Missense 7/30 - 1
5-180056284-CCG-ACA c.958_960delinsTGT p.R320C Missense 7/30 - 1
5-180056285-C-T c.959G>A p.R320Q Missense 7/30 - 3
5-180056286-G-A c.958C>T p.R320W Missense 7/30 - 9
5-180056291-C-T c.953G>A p.R318Q Missense 7/30 - 7
5-180056292-G-A c.952C>T p.R318* Nonsense 7/30 - 2
5-180056292-G-T c.952C>A p.R318= Synonymous 7/30 - 1
5-180056293-C-T c.951G>A p.Q317= Synonymous 7/30 - 1
5-180056295-G-A c.949C>T p.Q317* Nonsense 7/30 - 1
5-180056296-G-A c.948C>T p.I316= Synonymous 7/30 - 4
5-180056299-G-A c.945C>T p.G315= Synonymous 7/30 - 1
5-180056299-G-C c.945C>G p.G315= Synonymous 7/30 - 1
5-180056299-GCC-TCA c.943_945delinsTGA p.G315* Nonsense 7/30 - 1
5-180056299-G-T c.945C>A p.G315= Synonymous 7/30 - 1
5-180056300-C-G c.944G>C p.G315A Missense 7/30 - 1
5-180056300-C-T c.944G>A p.G315D Missense 7/30 - 3
5-180056301-C-T c.943G>A p.G315S Missense 7/30 - 2
5-180056302-G-A c.942C>T p.N314= Synonymous 7/30 - 1
5-180056303-T-C c.941A>G p.N314S Missense 7/30 - 1
5-180056305-G-A c.939C>T p.N313= Synonymous 7/30 - 1
5-180056305-G-T c.939C>A p.N313K Missense 7/30 - 1
5-180056306-T-C c.938A>G p.N313S Missense 7/30 - 1
5-180056307-T-A c.937A>T p.N313Y Missense 7/30 - 1
5-180056310-C-T c.934G>A p.A312T Missense 7/30 - 6
5-180056313-T-A c.931A>T p.K311* Nonsense 7/30 - 1
5-180056314-G-T c.930C>A p.C310* Nonsense 7/30 - 1
5-180056315-C-T c.929G>A p.C310Y Missense 7/30 - 1
5-180056317-C-A c.927G>T p.V309= Synonymous 7/30 - 1
5-180056317-CA-GT c.926_927delinsAC p.V309D Missense 7/30 - 1
5-180056317-C-G c.927G>C p.V309= Synonymous 7/30 - 1
5-180056317-C-T c.927G>A p.V309= Synonymous 7/30 - 1
5-180056319-C-T c.925G>A p.V309M Missense 7/30 - 1
5-180056320-A-C c.924T>G p.Y308* Nonsense 7/30 - 3
5-180056320-A-T c.924T>A p.Y308* Nonsense 7/30 - 2
5-180056324-G-A c.920C>T p.S307L Missense 7/30 - 5
5-180056327-C-T c.917G>A p.G306D Missense 7/30 - 1
5-180056329-C-A c.915G>T p.L305= Synonymous 7/30 - 1
5-180056329-C-G c.915G>C p.L305= Synonymous 7/30 - 1
5-180056329-C-T c.915G>A p.L305= Synonymous 7/30 - 1
5-180056331-G-A c.913C>T p.L305= Synonymous 7/30 - 1
5-180056334-C-CA c.909_910insT p.D304* Nonsense 7/30 - 1
5-180056334-C-T c.910G>A p.D304N Missense 7/30 - 5
5-180056334-TC-T c.910del p.D304Tfs*49 Frameshift 7/30 - 1
5-180056335-G-C c.909C>G p.H303Q Missense 7/30 - 1
5-180056335-G-T c.909C>A p.H303Q Missense 7/30 - 3
5-180056337-G-A c.907C>T p.H303Y Missense 7/30 - 1
5-180056342-C-T c.902G>A p.S301N Missense 7/30 - 1
5-180056343-T-A c.901A>T p.S301C Missense 7/30 - 1
5-180056346-C-G c.898G>C p.V300L Missense 7/30 - 1
5-180056346-C-T c.898G>A p.V300I Missense 7/30 - 3
5-180056350-G-C c.894C>G p.H298Q Missense 7/30 - 1
5-180056351-T-C c.893A>G p.H298R Missense 7/30 - 3
5-180056355-T-C c.889A>G p.I297V Missense 7/30 - 1
5-180056356-G-A c.888C>T p.T296= Synonymous 7/30 - 4
5-180056356-GG-CA c.887_888delinsTG p.T296M Missense 7/30 - 1
5-180056359-C-A c.885G>T p.L295= Synonymous 7/30 - 4
5-180056359-C-G c.885G>C p.L295= Synonymous 7/30 - 4
5-180056359-C-T c.885G>A p.L295= Synonymous 7/30 - 4
5-180056361-G-A c.883C>T p.L295= Synonymous 7/30 - 4
5-180056370-A-C c.874T>G p.S292A Missense 7/30 - 1
5-180056376-C-T c.868G>A p.E290K Missense 7/30 - 1
5-180056378-G-A c.866C>T p.T289I Missense 7/30 - 1
5-180056378-G-C c.866C>G p.T289R Missense 7/30 - 1
5-180056382-G-A c.862C>T p.H288Y Missense 7/30 - 1
5-180056382-G-T c.862C>A p.H288N Missense 7/30 - 1
5-180056384-G-A c.860C>T p.T287I Missense 7/30 - 1
5-180056385-T-C c.859A>G p.T287A Missense 7/30 - 9
5-180056389-C-A c.855G>T p.Q285H Missense 7/30 - 1
5-180056389-C-G c.855G>C p.Q285H Missense 7/30 - 1
5-180056392-G-A c.852C>T p.S284= Synonymous 7/30 - 4
5-180056393-G-A c.851C>T p.S284F Missense 7/30 - 2
5-180056393-G-T c.851C>A p.S284Y Missense 7/30 - 4
5-180056397-G-A c.847C>T p.R283C Missense 7/30 - 9
5-180056398-TCG-ACA c.844_846delinsTGT p.R282C Missense 7/30 - 1
5-180056398-TCG-CCA c.844_846delinsTGG p.R282W Missense 7/30 - 1
5-180056399-C-T c.845G>A p.R282Q Missense 7/30 - 5
5-180056400-G-A c.844C>T p.R282* Nonsense 7/30 - 6
5-180056402-T-A c.842A>T p.E281V Missense 7/30 - 1
5-180056403-C-T c.841G>A p.E281K Missense 7/30 - 5
5-180056404-G-A c.840C>T p.P280= Synonymous 7/30 - 2
5-180056404-G-C c.840C>G p.P280= Synonymous 7/30 - 2
5-180056404-G-T c.840C>A p.P280= Synonymous 7/30 - 2
5-180056407-CAC-GAT c.835_837delinsATC p.V279I Missense 7/30 - 1
5-180056411-C-A c.833G>T p.W278L Missense 7/30 - 1
5-180056414-T-C c.830A>G p.K277R Missense 7/30 - 1
5-180056415-T-G c.829A>C p.K277Q Missense 7/30 - 4
5-180056417-C-A c.827G>T p.G276V Missense 7/30 - 2
5-180056418-C-A c.826G>T p.G276C Missense 7/30 - 1
5-180056420-C-T c.824G>A p.R275Q Missense 7/30 - 1
5-180056421-G-C c.823C>G p.R275G Missense 7/30 - 1
5-180056422-C-A c.822G>T p.E274D Missense 7/30 - 1
5-180056422-C-G c.822G>C p.E274D Missense 7/30 - 2
5-180056426-G-T c.818C>A p.A273E Missense 7/30 - 1
5-180056427-C-T c.817G>A p.A273T Missense 7/30 - 1
5-180056581-G-A c.816+115C>T - IntronicSNV - 6/29 1
5-180056581-G-C c.816+115C>G - IntronicSNV - 6/29 3
5-180056581-G-T c.816+115C>A - IntronicSNV - 6/29 1
5-180056620-G-A c.816+76C>T - IntronicSNV - 6/29 7
5-180056698-G-A c.814C>T p.Q272* Nonsense 6/30 - 1
5-180056699-C-A c.813G>T p.K271N Missense 6/30 - 2
5-180056699-C-G c.813G>C p.K271N Missense 6/30 - 2
5-180056702-C-T c.810G>A p.G270= Synonymous 6/30 - 5
5-180056703-C-T c.809G>A p.G270E Missense 6/30 - 3
5-180056704-C-T c.808G>A p.G270R Missense 6/30 - 5
5-180056705-T-A c.807A>T p.P269= Synonymous 6/30 - 1
5-180056707-G-T c.805C>A p.P269T Missense 6/30 - 1
5-180056713-C-CA c.798_799insT p.D267* Nonsense 6/30 - 1
5-180056714-C-T c.798G>A p.W266* Nonsense 6/30 - 4
5-180056715-C-T c.797G>A p.W266* Nonsense 6/30 - 2
5-180056716-A-G c.796T>C p.W266R Missense 6/30 - 1
5-180056716-A-T c.796T>A p.W266R Missense 6/30 - 1
5-180056717-G-A c.795C>T p.D265= Synonymous 6/30 - 1
5-180056718-T-G c.794A>C p.D265A Missense 6/30 - 1
5-180056719-C-A c.793G>T p.D265Y Missense 6/30 - 1
5-180056724-G-A c.788C>T p.T263I Missense 6/30 - 1
5-180056727-A-C c.785T>G p.V262G Missense 6/30 - 1
5-180056727-A-G c.785T>C p.V262A Missense 6/30 - 1
5-180056728-C-T c.784G>A p.V262I Missense 6/30 - 4
5-180056730-C-T c.782G>A p.G261D Missense 6/30 - 1
5-180056731-C-A c.781G>T p.G261C Missense 6/30 - 1
5-180056732-TG-AA c.779_780delinsTT p.S260F Missense 6/30 - 1
5-180056733-G-C c.779C>G p.S260* Nonsense 6/30 - 5
5-180056733-G-T c.779C>A p.S260* Nonsense 6/30 - 2
5-180056736-T-C c.776A>G p.N259S Missense 6/30 - 1
5-180056738-A-C c.774T>G p.F258L Missense 6/30 - 1
5-180056738-A-T c.774T>A p.F258L Missense 6/30 - 1
5-180056740-A-G c.772T>C p.F258L Missense 6/30 - 1
5-180056745-G-C c.767C>G p.A256G Missense 6/30 - 1
5-180056746-C-T c.766G>A p.A256T Missense 6/30 - 1
5-180056747-C-T c.765G>A p.W255* Nonsense 6/30 - 1
5-180056748-C-T c.764G>A p.W255* Nonsense 6/30 - 1
5-180056749-A-G c.763T>C p.W255R Missense 6/30 - 1
5-180056749-A-T c.763T>A p.W255R Missense 6/30 - 1
5-180056752-C-A c.760G>T p.V254L Missense 6/30 - 1
5-180056752-C-T c.760G>A p.V254M Missense 6/30 - 3
5-180056754-G-A c.758C>T p.T253I Missense 6/30 - 1
5-180056756-G-T c.756C>A p.C252* Nonsense 6/30 - 1
5-180056757-C-T c.755G>A p.C252Y Missense 6/30 - 1
5-180056758-A-G c.754T>C p.C252R Missense 6/30 - 1
5-180056759-G-T c.753C>A p.N251K Missense 6/30 - 1
5-180056761-T-C c.751A>G p.N251D Missense 6/30 - 1
5-180056762-C-G c.750G>C p.L250= Synonymous 6/30 - 1
5-180056764-G-T c.748C>A p.L250M Missense 6/30 - 1
5-180056767-C-A c.745G>T p.V249F Missense 6/30 - 2
5-180056770-G-A c.742C>T p.L248= Synonymous 6/30 - 1
5-180056772-T-G c.740A>C p.K247T Missense 6/30 - 1
5-180056773-T-A c.739A>T p.K247* Nonsense 6/30 - 1
5-180056774-C-A c.738G>T p.E246D Missense 6/30 - 1
5-180056775-T-A c.737A>T p.E246V Missense 6/30 - 3
5-180056776-C-T c.736G>A p.E246K Missense 6/30 - 1
5-180056777-CC-GT c.734_735delinsAC p.G245D Missense 6/30 - 1
5-180056778-C-A c.734G>T p.G245V Missense 6/30 - 2
5-180056778-C-T c.734G>A p.G245E Missense 6/30 - 3
5-180056779-C-G c.733G>C p.G245R Missense 6/30 - 2
5-180056779-C-T c.733G>A p.G245R Missense 6/30 - 1
5-180056782-C-T c.730G>A p.V244I Missense 6/30 - 1
5-180056784-AG-GC c.727_728delinsGC p.L243A Missense 6/30 - 1
5-180056785-G-T c.727C>A p.L243M Missense 6/30 - 1
5-180056788-G-A c.724C>T p.L242= Synonymous 6/30 - 1
5-180056788-G-T c.724C>A p.L242M Missense 6/30 - 2
5-180056789-C-A c.723G>T p.E241D Missense 6/30 - 1
5-180056789-C-G c.723G>C p.E241D Missense 6/30 - 1
5-180056796-G-A c.716C>T p.S239L Missense 6/30 - 5
5-180056796-G-T c.716C>A p.S239* Nonsense 6/30 - 1
5-180056801-C-T c.711G>A p.R237= Synonymous 6/30 - 2
5-180056805-G-T c.707C>A p.P236H Missense 6/30 - 1
5-180056806-G-A c.706C>T p.P236S Missense 6/30 - 1
5-180056812-G-C c.700C>G p.L234V Missense 6/30 - 1
5-180056818-T-C c.694A>G p.I232V Missense 6/30 - 1
5-180056819-G-C c.693C>G p.D231E Missense 6/30 - 1
5-180056819-G-T c.693C>A p.D231E Missense 6/30 - 1
5-180056821-C-A c.691G>T p.D231Y Missense 6/30 - 1
5-180056821-C-T c.691G>A p.D231N Missense 6/30 - 2
5-180056823-T-C c.689A>G p.Y230C Missense 6/30 - 1
5-180056824-A-G c.688T>C p.Y230H Missense 6/30 - 1
5-180056827-G-A c.685C>T p.L229F Missense 6/30 - 1
5-180056829-T-G c.683A>C p.E228A Missense 6/30 - 2
5-180056830-C-T c.682G>A p.E228K Missense 6/30 - 1
5-180056831-G-A c.681C>T p.N227= Synonymous 6/30 - 1
5-180056832-T-A c.680A>T p.N227I Missense 6/30 - 1
5-180056835-C-T c.677G>A p.G226D Missense 6/30 - 2
5-180056863-C-G c.677-28G>C - IntronicSNV - 5/29 2
5-180056863-C-T c.677-28G>A - IntronicSNV - 5/29 2
5-180056920-G-A c.676+23C>T - IntronicSNV - 5/29 1
5-180056920-G-T c.676+23C>A - IntronicSNV - 5/29 1
5-180056942-C-T c.676+1G>A - IntronicSNV - 5/29 1
5-180056945-G-A c.674C>T p.T225I Missense 5/30 - 1
5-180056951-T-C c.668A>G p.H223R Missense 5/30 - 1
5-180056952-G-T c.667C>A p.H223N Missense 5/30 - 1
5-180056959-G-A c.660C>T p.F220= Synonymous 5/30 - 4
5-180056963-G-T c.656C>A p.P219H Missense 5/30 - 1
5-180056964-G-T c.655C>A p.P219T Missense 5/30 - 5
5-180056966-T-C c.653A>G p.N218S Missense 5/30 - 2
5-180056969-GA-AG c.649_650delinsCT p.S217L Missense 5/30 - 1
5-180056969-G-T c.650C>A p.S217Y Missense 5/30 - 1
5-180056974-G-A c.645C>T p.F215= Synonymous 5/30 - 4
5-180056975-A-C c.644T>G p.F215C Missense 5/30 - 1
5-180056976-A-G c.643T>C p.F215L Missense 5/30 - 1
5-180056979-C-A c.640G>T p.D214Y Missense 5/30 - 1
5-180056979-C-T c.640G>A p.D214N Missense 5/30 - 2
5-180056982-G-A c.637C>T p.Q213* Nonsense 5/30 - 2
5-180056986-T-A c.633A>T p.G211= Synonymous 5/30 - 1
5-180056986-T-C c.633A>G p.G211= Synonymous 5/30 - 1
5-180056987-C-T c.632G>A p.G211E Missense 5/30 - 2
5-180056988-C-G c.631G>C p.G211R Missense 5/30 - 1
5-180056988-C-T c.631G>A p.G211R Missense 5/30 - 1
5-180056989-C-T c.630G>A p.W210* Nonsense 5/30 - 1
5-180056990-C-A c.629G>T p.W210L Missense 5/30 - 1
5-180056993-G-C c.626C>G p.T209S Missense 5/30 - 1
5-180056993-G-T c.626C>A p.T209N Missense 5/30 - 1
5-180056994-T-G c.625A>C p.T209P Missense 5/30 - 1
5-180056995-GG-CA c.623_624delinsTG p.T208M Missense 5/30 - 1
5-180056997-T-C c.622A>G p.T208A Missense 5/30 - 1
5-180056998-C-A c.621G>T p.E207D Missense 5/30 - 2
5-180056998-C-G c.621G>C p.E207D Missense 5/30 - 3
5-180056999-T-G c.620A>C p.E207A Missense 5/30 - 1
5-180057000-C-T c.619G>A p.E207K Missense 5/30 - 5
5-180057001-G-A c.618C>T p.C206= Synonymous 5/30 - 1
5-180057002-C-T c.617G>A p.C206Y Missense 5/30 - 1
5-180057002-C-G c.617G>C p.C206S Missense 5/30 - 1
5-180057003-A-G c.616T>C p.C206R Missense 5/30 - 1
5-180057003-A-T c.616T>A p.C206S Missense 5/30 - 1
5-180057006-G-A c.613C>T p.Q205* Nonsense 5/30 - 1
5-180057006-G-T c.613C>A p.Q205K Missense 5/30 - 2
5-180057009-G-A c.610C>T p.L204= Synonymous 5/30 - 1
5-180057010-G-T c.609C>A p.Y203* Nonsense 5/30 - 1
5-180057015-G-A c.604C>T p.L202= Synonymous 5/30 - 4
5-180057016-G-A c.603C>T p.A201= Synonymous 5/30 - 1
5-180057017-G-A c.602C>T p.A201V Missense 5/30 - 1
5-180057018-C-T c.601G>A p.A201T Missense 5/30 - 1
5-180057020-T-G c.599A>C p.D200A Missense 5/30 - 1
5-180057021-C-T c.598G>A p.D200N Missense 5/30 - 4
5-180057022-G-T c.597C>A p.H199Q Missense 5/30 - 2
5-180057024-G-A c.595C>T p.H199Y Missense 5/30 - 1
5-180057027-G-C c.592C>G p.L198V Missense 5/30 - 1
5-180057028-C-A c.591G>T p.L197= Synonymous 5/30 - 1
5-180057028-C-G c.591G>C p.L197= Synonymous 5/30 - 1
5-180057028-C-T c.591G>A p.L197= Synonymous 5/30 - 1
5-180057030-G-A c.589C>T p.L197= Synonymous 5/30 - 1
5-180057033-G-A c.586C>T p.P196S Missense 5/30 - 1
5-180057033-G-T c.586C>A p.P196T Missense 5/30 - 3
5-180057035-G-A c.584C>T p.T195M Missense 5/30 - 2
5-180057040-C-A c.579G>T p.V193= Synonymous 5/30 - 1
5-180057040-C-G c.579G>C p.V193= Synonymous 5/30 - 1
5-180057042-C-T c.577G>A p.V193M Missense 5/30 - 3
5-180057043-G-A c.576C>T p.L192= Synonymous 5/30 - 4
5-180057043-G-C c.576C>G p.L192= Synonymous 5/30 - 1
5-180057044-A-T c.575T>A p.L192H Missense 5/30 - 2
5-180057046-C-A c.573G>T p.M191I Missense 5/30 - 2
5-180057046-C-G c.573G>C p.M191I Missense 5/30 - 1
5-180057046-C-T c.573G>A p.M191I Missense 5/30 - 1
5-180057050-C-T c.569G>A p.G190D Missense 5/30 - 1
5-180057052-C-A c.567G>T p.R189= Synonymous 5/30 - 1
5-180057053-C-A c.566G>T p.R189L Missense 5/30 - 2
5-180057053-CG-TA c.565_566delinsTA p.R189* Nonsense 5/30 - 1
5-180057053-C-T c.566G>A p.R189Q Missense 5/30 - 2
5-180057054-G-A c.565C>T p.R189W Missense 5/30 - 2
5-180057056-C-A c.563G>T p.R188L Missense 5/30 - 1
5-180057056-C-T c.563G>A p.R188Q Missense 5/30 - 3
5-180057057-G-A c.562C>T p.R188W Missense 5/30 - 3
5-180057057-G-T c.562C>A p.R188= Synonymous 5/30 - 1
5-180057060-C-A c.559G>T p.D187Y Missense 5/30 - 1
5-180057060-C-T c.559G>A p.D187N Missense 5/30 - 4
5-180057064-C-A c.555G>T p.W185C Missense 5/30 - 1
5-180057064-C-G c.555G>C p.W185C Missense 5/30 - 1
5-180057064-C-T c.555G>A p.W185* Nonsense 5/30 - 1
5-180057065-C-T c.554G>A p.W185* Nonsense 5/30 - 1
5-180057069-C-G c.550G>C p.V184L Missense 5/30 - 1
5-180057070-CAC-GAT c.547_549delinsATC p.V183I Missense 5/30 - 1
5-180057074-T-G c.545A>C p.E182A Missense 5/30 - 1
5-180057075-C-A c.544G>T p.E182* Nonsense 5/30 - 2
5-180057075-C-G c.544G>C p.E182Q Missense 5/30 - 1
5-180057075-C-T c.544G>A p.E182K Missense 5/30 - 4
5-180057077-T-A c.542A>T p.Q181L Missense 5/30 - 1
5-180057078-G-A c.541C>T p.Q181* Nonsense 5/30 - 1
5-180057080-C-T c.539G>A p.G180E Missense 5/30 - 2
5-180057081-C-G c.538G>C p.G180R Missense 5/30 - 2
5-180057081-C-T c.538G>A p.G180R Missense 5/30 - 6
5-180057082-G-A c.537C>T p.D179= Synonymous 5/30 - 2
5-180057084-C-G c.535G>C p.D179H Missense 5/30 - 1
5-180057086-G-T c.533C>A p.P178Q Missense 5/30 - 1
5-180057087-G-A c.532C>T p.P178S Missense 5/30 - 1
5-180057088-C-T c.531G>A p.W177* Nonsense 5/30 - 2
5-180057089-C-T c.530G>A p.W177* Nonsense 5/30 - 1
5-180057090-A-G c.529T>C p.W177R Missense 5/30 - 1
5-180057091-C-A c.528G>T p.L176= Synonymous 5/30 - 1
5-180057091-CAG-AAA c.526_528delinsTTT p.L176F Missense 5/30 - 1
5-180057091-C-G c.528G>C p.L176= Synonymous 5/30 - 1
5-180057091-C-T c.528G>A p.L176= Synonymous 5/30 - 1
5-180057093-G-A c.526C>T p.L176= Synonymous 5/30 - 1
5-180057098-G-A c.521C>T p.S174L Missense 5/30 - 6
5-180057100-G-C c.519C>G p.S173R Missense 5/30 - 2
5-180057100-G-T c.519C>A p.S173R Missense 5/30 - 4
5-180057102-T-G c.517A>C p.S173R Missense 5/30 - 2
5-180057105-G-A c.514C>T p.Q172* Nonsense 5/30 - 1
5-180057170-C-T c.513+55G>A - IntronicSNV - 4/29 1
5-180057176-C-A c.513+49G>T - IntronicSNV - 4/29 1
5-180057177-A-G c.513+48T>C - IntronicSNV - 4/29 1
5-180057177-A-T c.513+48T>A - IntronicSNV - 4/29 1
5-180057182-T-G c.513+43A>C - IntronicSNV - 4/29 1
5-180057186-A-G c.513+39T>C - IntronicSNV - 4/29 1
5-180057186-A-T c.513+39T>A - IntronicSNV - 4/29 2
5-180057187-T-G c.513+38A>C - IntronicSNV - 4/29 2
5-180057187-T-TG c.513+37dup - IntronicInsertion - 4/29 1
5-180057191-A-G c.513+34T>C - IntronicSNV - 4/29 1
5-180057191-A-T c.513+34T>A - IntronicSNV - 4/29 1
5-180057194-G-T c.513+31C>A - IntronicSNV - 4/29 1
5-180057203-T-G c.513+22A>C - IntronicSNV - 4/29 1
5-180057208-T-G c.513+17A>C - IntronicSNV - 4/29 1
5-180057209-T-G c.513+16A>C - IntronicSNV - 4/29 1
5-180057209-T-TG c.513+15dup - IntronicInsertion - 4/29 1
5-180057214-T-G c.513+11A>C - IntronicSNV - 4/29 1
5-180057220-C-T c.513+5G>A - IntronicSNV - 4/29 2
5-180057228-G-C c.510C>G p.R170= Synonymous 4/30 - 1
5-180057228-GC-TT c.509_510delinsAA p.R170Q Missense 4/30 - 1
5-180057229-C-T c.509G>A p.R170H Missense 4/30 - 8
5-180057230-G-A c.508C>T p.R170C Missense 4/30 - 5
5-180057231-C-A c.507G>T p.L169= Synonymous 4/30 - 14
5-180057231-C-G c.507G>C p.L169= Synonymous 4/30 - 4
5-180057231-C-T c.507G>A p.L169= Synonymous 4/30 - 4
5-180057233-G-A c.505C>T p.L169= Synonymous 4/30 - 4
5-180057234-C-T c.504G>A p.T168= Synonymous 4/30 - 1
5-180057235-G-A c.503C>T p.T168M Missense 4/30 - 9
5-180057235-G-C c.503C>G p.T168R Missense 4/30 - 2
5-180057236-T-C c.502A>G p.T168A Missense 4/30 - 1
5-180057237-G-A c.501C>T p.V167= Synonymous 4/30 - 1
5-180057237-G-C c.501C>G p.V167= Synonymous 4/30 - 1
5-180057237-G-T c.501C>A p.V167= Synonymous 4/30 - 1
5-180057238-A-T c.500T>A p.V167D Missense 4/30 - 1
5-180057239-C-A c.499G>T p.V167F Missense 4/30 - 1
5-180057239-C-T c.499G>A p.V167I Missense 4/30 - 1
5-180057240-A-G c.498T>C p.N166= Synonymous 4/30 - 1
5-180057241-T-C c.497A>G p.N166S Missense 4/30 - 3
5-180057245-G-A c.493C>T p.L165F Missense 4/30 - 1
5-180057247-C-T c.491G>A p.G164D Missense 4/30 - 1
5-180057246-G-GC c.491dup p.L165Pfs*23 Frameshift 4/30 - 1
5-180057248-C-A c.490G>T p.G164C Missense 4/30 - 1
5-180057248-C-T c.490G>A p.G164S Missense 4/30 - 4
5-180057249-G-A c.489C>T p.P163= Synonymous 4/30 - 1
5-180057249-G-C c.489C>G p.P163= Synonymous 4/30 - 1
5-180057249-G-T c.489C>A p.P163= Synonymous 4/30 - 3
5-180057250-G-A c.488C>T p.P163L Missense 4/30 - 6
5-180057250-G-C c.488C>G p.P163R Missense 4/30 - 1
5-180057251-G-A c.487C>T p.P163S Missense 4/30 - 1
5-180057252-G-A c.486C>T p.I162= Synonymous 4/30 - 1
5-180057256-G-A c.482C>T p.S161F Missense 4/30 - 2
5-180057256-GA-AG c.481_482delinsCT p.S161L Missense 4/30 - 1
5-180057256-G-T c.482C>A p.S161Y Missense 4/30 - 1
5-180057258-C-T c.480G>A p.V160= Synonymous 4/30 - 1
5-180057260-C-A c.478G>T p.V160L Missense 4/30 - 4
5-180057260-C-G c.478G>C p.V160L Missense 4/30 - 2
5-180057260-C-T c.478G>A p.V160M Missense 4/30 - 1
5-180057263-G-A c.475C>T p.L159= Synonymous 4/30 - 1
5-180057263-G-C c.475C>G p.L159V Missense 4/30 - 4
5-180057263-G-T c.475C>A p.L159M Missense 4/30 - 1
5-180057264-A-T c.474T>A p.C158* Nonsense 4/30 - 1
5-180057265-C-G c.473G>C p.C158S Missense 4/30 - 1
5-180057266-A-G c.472T>C p.C158R Missense 4/30 - 1
5-180057266-A-T c.472T>A p.C158S Missense 4/30 - 1
5-180057267-G-A c.471C>T p.P157= Synonymous 4/30 - 2
5-180057267-G-C c.471C>G p.P157= Synonymous 4/30 - 2
5-180057267-G-T c.471C>A p.P157= Synonymous 4/30 - 2
5-180057269-G-A c.469C>T p.P157S Missense 4/30 - 1
5-180057270-C-G c.468G>C p.V156= Synonymous 4/30 - 4
5-180057273-C-T c.465G>A p.W155* Nonsense 4/30 - 1
5-180057274-C-A c.464G>T p.W155L Missense 4/30 - 2
5-180057274-C-T c.464G>A p.W155* Nonsense 4/30 - 1
5-180057277-A-G c.461T>C p.M154T Missense 4/30 - 1
5-180057279-G-A c.459C>T p.A153= Synonymous 4/30 - 1
5-180057279-G-C c.459C>G p.A153= Synonymous 4/30 - 1
5-180057279-G-T c.459C>A p.A153= Synonymous 4/30 - 1
5-180057280-G-A c.458C>T p.A153V Missense 4/30 - 2
5-180057280-G-T c.458C>A p.A153D Missense 4/30 - 1
5-180057281-C-A c.457G>T p.A153S Missense 4/30 - 1
5-180057281-C-T c.457G>A p.A153T Missense 4/30 - 2
5-180057282-G-A c.456C>T p.D152= Synonymous 4/30 - 1
5-180057284-C-A c.454G>T p.D152Y Missense 4/30 - 4
5-180057287-T-A c.451A>T p.K151* Nonsense 4/30 - 1
5-180057288-CCT-ACA c.448_450delinsTGT p.R150C Missense 4/30 - 2
5-180057288-C-T c.450G>A p.R150= Synonymous 4/30 - 3
5-180057290-T-G c.448A>C p.R150= Synonymous 4/30 - 1
5-180057289-C-A c.449G>T p.R150M Missense 4/30 - 1
5-180057289-C-T c.449G>A p.R150K Missense 4/30 - 2
5-180057289-CT-TA c.448_449delinsTA p.R150* Nonsense 4/30 - 1
5-180057290-T-C c.448A>G p.R150G Missense 4/30 - 2
5-180057291-G-A c.447C>T p.N149= Synonymous 4/30 - 1
5-180057293-T-C c.445A>G p.N149D Missense 4/30 - 18
5-180057303-C-A c.435G>T p.T145= Synonymous 4/30 - 2
5-180057303-C-G c.435G>C p.T145= Synonymous 4/30 - 2
5-180057303-C-T c.435G>A p.T145= Synonymous 4/30 - 3
5-180057304-G-A c.434C>T p.T145M Missense 4/30 - 6
5-180057310-G-A c.428C>T p.P143L Missense 4/30 - 2
5-180057310-G-T c.428C>A p.P143H Missense 4/30 - 2
5-180057314-T-C c.424A>G p.K142E Missense 4/30 - 1
5-180057314-T-TG c.423dup p.K142Qfs*3 Frameshift 4/30 - 1
5-180057315-G-T c.423C>A p.N141K Missense 4/30 - 1
5-180057317-T-C c.421A>G p.N141D Missense 4/30 - 1
5-180057318-G-A c.420C>T p.I140= Synonymous 4/30 - 1
5-180057318-G-T c.420C>A p.I140= Synonymous 4/30 - 1
5-180057326-G-A c.412C>T p.P138S Missense 4/30 - 3
5-180057326-G-T c.412C>A p.P138T Missense 4/30 - 1
5-180057329-G-A c.409C>T p.Q137* Nonsense 4/30 - 1
5-180057332-CAA-C c.404_405del p.F135* Frameshift 4/30 - 1
5-180057356-C-G c.401-19G>C - IntronicSNV - 3/29 8
5-180057479-G-A c.400+76C>T - IntronicSNV - 3/29 1
5-180057504-G-A c.400+51C>T - IntronicSNV - 3/29 5
5-180057504-G-C c.400+51C>G - IntronicSNV - 3/29 3
5-180057527-T-C c.400+28A>G - IntronicSNV - 3/29 1
5-180057538-C-T c.400+17G>A - IntronicSNV - 3/29 12
5-180057560-A-C c.395T>G p.V132G Missense 3/30 - 1
5-180057561-C-T c.394G>A p.V132M Missense 3/30 - 5
5-180057562-G-A c.393C>T p.F131= Synonymous 3/30 - 9
5-180057563-A-G c.392T>C p.F131S Missense 3/30 - 4
5-180057567-C-T c.388G>A p.V130M Missense 3/30 - 3
5-180057568-G-A c.387C>T p.Y129= Synonymous 3/30 - 1
5-180057569-T-C c.386A>G p.Y129C Missense 3/30 - 1
5-180057572-G-A c.383C>T p.S128F Missense 3/30 - 8
5-180057572-G-C c.383C>G p.S128C Missense 3/30 - 1
5-180057572-G-T c.383C>A p.S128Y Missense 3/30 - 1
5-180057575-CT-GC c.379_380delinsGC p.S127A Missense 3/30 - 1
5-180057575-CT-TC c.379_380delinsGA p.S127D Missense 3/30 - 1
5-180057577-G-A c.378C>T p.A126= Synonymous 3/30 - 1
5-180057577-G-C c.378C>G p.A126= Synonymous 3/30 - 1
5-180057577-G-T c.378C>A p.A126= Synonymous 3/30 - 1
5-180057578-G-A c.377C>T p.A126V Missense 3/30 - 2
5-180057579-C-T c.376G>A p.A126T Missense 3/30 - 3
5-180057580-G-A c.375C>T p.A125= Synonymous 3/30 - 4
5-180057582-C-A c.373G>T p.A125S Missense 3/30 - 1
5-180057582-C-T c.373G>A p.A125T Missense 3/30 - 3
5-180057584-G-C c.371C>G p.T124R Missense 3/30 - 1
5-180057585-T-A c.370A>T p.T124S Missense 3/30 - 1
5-180057589-G-A c.366C>T p.G122= Synonymous 3/30 - 2
5-180057590-C-T c.365G>A p.G122D Missense 3/30 - 1
5-180057592-C-A c.363G>T p.E121D Missense 3/30 - 1
5-180057592-C-G c.363G>C p.E121D Missense 3/30 - 1
5-180057593-T-C c.362A>G p.E121G Missense 3/30 - 1
5-180057594-C-T c.361G>A p.E121K Missense 3/30 - 5
5-180057595-G-A c.360C>T p.I120= Synonymous 3/30 - 5
5-180057595-G-T c.360C>A p.I120= Synonymous 3/30 - 1
5-180057598-GC-TT c.356_357delinsAA p.R119Q Missense 3/30 - 1
5-180057599-C-A c.356G>T p.R119L Missense 3/30 - 2
5-180057599-C-T c.356G>A p.R119H Missense 3/30 - 5
5-180057600-G-A c.355C>T p.R119C Missense 3/30 - 1
5-180057603-C-A c.352G>T p.A118S Missense 3/30 - 2
5-180057603-C-T c.352G>A p.A118T Missense 3/30 - 1
5-180057607-G-C c.348C>G p.I116M Missense 3/30 - 4
5-180057610-G-GTGT c.344_345insACA p.Y115delins* Nonsense 3/30 - 1
5-180057611-T-C c.344A>G p.Y115C Missense 3/30 - 1
5-180057620-T-A c.335A>T p.Y112F Missense 3/30 - 1
5-180057623-C-T c.332G>A p.C111Y Missense 3/30 - 4
5-180057623-C-G c.332G>C p.C111S Missense 3/30 - 1
5-180057624-A-G c.331T>C p.C111R Missense 3/30 - 2
5-180057624-A-T c.331T>A p.C111S Missense 3/30 - 1
5-180057625-G-A c.330C>T p.V110= Synonymous 3/30 - 1
5-180057626-AC-CA c.328_329delinsTG p.V110C Missense 3/30 - 1
5-180057626-A-G c.329T>C p.V110A Missense 3/30 - 1
5-180057627-C-T c.328G>A p.V110I Missense 3/30 - 3
5-180057628-G-A c.327C>T p.Y109= Synonymous 3/30 - 1
5-180057629-T-C c.326A>G p.Y109C Missense 3/30 - 1
5-180057632-C-T c.323G>A p.S108N Missense 3/30 - 1
5-180057634-GC-CT c.320_321delinsAG p.G107E Missense 3/30 - 1
5-180057636-C-G c.319G>C p.G107R Missense 3/30 - 1
5-180057637-TG-CA c.317_318inv p.T106M Missense 3/30 - 3
5-180057638-G-T c.317C>A p.T106K Missense 3/30 - 3
5-180057640-G-T c.315C>A p.D105E Missense 3/30 - 1
5-180057642-C-T c.313G>A p.D105N Missense 3/30 - 6
5-180057643-G-A c.312C>T p.N104= Synonymous 3/30 - 4
5-180057644-T-G c.311A>C p.N104T Missense 3/30 - 1
5-180057646-G-C c.309C>G p.A103= Synonymous 3/30 - 1
5-180057647-G-C c.308C>G p.A103G Missense 3/30 - 1
5-180057647-G-T c.308C>A p.A103D Missense 3/30 - 2
5-180057648-C-T c.307G>A p.A103T Missense 3/30 - 1
5-180057652-T-A c.303A>T p.V101= Synonymous 3/30 - 1
5-180057652-T-C c.303A>G p.V101= Synonymous 3/30 - 1
5-180057652-T-G c.303A>C p.V101= Synonymous 3/30 - 1
5-180057653-A-G c.302T>C p.V101A Missense 3/30 - 1
5-180057655-C-T c.300G>A p.E100= Synonymous 3/30 - 1
5-180057657-C-T c.298G>A p.E100K Missense 3/30 - 3
5-180057661-GC-G c.294del p.H99Tfs*34 Frameshift 3/30 - 1
5-180057666-G-C c.289C>G p.L97V Missense 3/30 - 2
5-180057667-C-A c.288G>T p.L96F Missense 3/30 - 2
5-180057667-C-G c.288G>C p.L96F Missense 3/30 - 2
5-180057668-AA-CT c.286_287delinsAG p.L96R Missense 3/30 - 1
5-180057671-A-C c.284T>G p.V95G Missense 3/30 - 1
5-180057672-C-A c.283G>T p.V95L Missense 3/30 - 1
5-180057672-C-G c.283G>C p.V95L Missense 3/30 - 1
5-180057672-C-T c.283G>A p.V95M Missense 3/30 - 1
5-180057673-C-A c.282G>T p.K94N Missense 3/30 - 1
5-180057673-C-G c.282G>C p.K94N Missense 3/30 - 1
5-180057674-T-C c.281A>G p.K94R Missense 3/30 - 2
5-180057675-T-C c.280A>G p.K94E Missense 3/30 - 1
5-180057676-G-T c.279C>A p.C93* Nonsense 3/30 - 1
5-180057677-C-T c.278G>A p.C93Y Missense 3/30 - 1
5-180057677-C-G c.278G>C p.C93S Missense 3/30 - 1
5-180057678-A-T c.277T>A p.C93S Missense 3/30 - 1
5-180057679-G-C c.276C>G p.Y92* Nonsense 3/30 - 1
5-180057681-A-G c.274T>C p.Y92H Missense 3/30 - 2
5-180057682-G-A c.273C>T p.P91= Synonymous 3/30 - 1
5-180057684-G-A c.271C>T p.P91S Missense 3/30 - 1
5-180057684-G-T c.271C>A p.P91T Missense 3/30 - 1
5-180057685-CCT-ATG c.268_270delinsCAT p.R90H Missense 3/30 - 1
5-180057686-C-A c.269G>T p.R90M Missense 3/30 - 1
5-180057687-T-TA c.267_268insT p.R90* Nonsense 3/30 - 1
5-180057689-GC-CA c.265_266delinsTG p.A89C Missense 3/30 - 2
5-180057690-C-A c.265G>T p.A89S Missense 3/30 - 1
5-180057690-C-T c.265G>A p.A89T Missense 3/30 - 3
5-180057693-C-A c.262G>T p.D88Y Missense 3/30 - 3
5-180057693-C-G c.262G>C p.D88H Missense 3/30 - 1
5-180057693-C-T c.262G>A p.D88N Missense 3/30 - 1
5-180057694-TG-GT c.260_261delinsAC p.T87N Missense 3/30 - 1
5-180057695-G-C c.260C>G p.T87R Missense 3/30 - 2
5-180057697-G-A c.258C>T p.G86= Synonymous 3/30 - 1
5-180057697-G-C c.258C>G p.G86= Synonymous 3/30 - 1
5-180057697-G-T c.258C>A p.G86= Synonymous 3/30 - 1
5-180057698-C-T c.257G>A p.G86D Missense 3/30 - 1
5-180057699-C-A c.256G>T p.G86C Missense 3/30 - 1
5-180057699-C-G c.256G>C p.G86R Missense 3/30 - 1
5-180057699-C-T c.256G>A p.G86S Missense 3/30 - 2
5-180057700-C-A c.255G>T p.E85D Missense 3/30 - 2
5-180057700-C-G c.255G>C p.E85D Missense 3/30 - 2
5-180057701-T-G c.254A>C p.E85A Missense 3/30 - 1
5-180057702-C-G c.253G>C p.E85Q Missense 3/30 - 1
5-180057702-C-T c.253G>A p.E85K Missense 3/30 - 7
5-180057703-G-A c.252C>T p.C84= Synonymous 3/30 - 1
5-180057704-C-A c.251G>T p.C84F Missense 3/30 - 1
5-180057704-C-T c.251G>A p.C84Y Missense 3/30 - 1
5-180057708-C-G c.247G>C p.D83H Missense 3/30 - 2
5-180057709-CT-C c.246del p.D83Tfs*50 Frameshift 3/30 - 1
5-180057710-C-T c.245G>A p.R82Q Missense 3/30 - 3
5-180057711-G-A c.244C>T p.R82* Nonsense 3/30 - 10
5-180057714-C-G c.241G>C p.V81L Missense 3/30 - 1
5-180057714-C-T c.241G>A p.V81M Missense 3/30 - 1
5-180057715-C-A c.240G>T p.V80= Synonymous 3/30 - 2
5-180057715-C-G c.240G>C p.V80= Synonymous 3/30 - 1
5-180057715-C-T c.240G>A p.V80= Synonymous 3/30 - 1
5-180057717-C-G c.238G>C p.V80L Missense 3/30 - 1
5-180057717-C-T c.238G>A p.V80M Missense 3/30 - 1
5-180057718-C-A c.237G>T p.G79= Synonymous 3/30 - 1
5-180057718-C-G c.237G>C p.G79= Synonymous 3/30 - 1
5-180057718-C-T c.237G>A p.G79= Synonymous 3/30 - 1
5-180057719-C-T c.236G>A p.G79E Missense 3/30 - 1
5-180057720-C-A c.235G>T p.G79W Missense 3/30 - 1
5-180057722-G-A c.233C>T p.T78M Missense 3/30 - 4
5-180057722-G-T c.233C>A p.T78K Missense 3/30 - 1
5-180057723-T-C c.232A>G p.T78A Missense 3/30 - 1
5-180057723-T-TG c.231dup p.T78Hfs*59 Frameshift 3/30 - 2
5-180057724-G-A c.231C>T p.D77= Synonymous 3/30 - 1
5-180057725-T-C c.230A>G p.D77G Missense 3/30 - 1
5-180057725-T-G c.230A>C p.D77A Missense 3/30 - 1
5-180057727-C-G c.228G>C p.E76D Missense 3/30 - 1
5-180057729-C-T c.226G>A p.E76K Missense 3/30 - 3
5-180057731-C-A c.224G>T p.S75I Missense 3/30 - 1
5-180057735-C-A c.220G>T p.D74Y Missense 3/30 - 1
5-180057741-C-A c.214G>T p.D72Y Missense 3/30 - 2
5-180057741-C-T c.214G>A p.D72N Missense 3/30 - 1
5-180057742-T-A c.213A>T p.G71= Synonymous 3/30 - 1
5-180057743-C-T c.212G>A p.G71E Missense 3/30 - 1
5-180057742-TC-T c.212del p.G71Efs*62 Frameshift 3/30 - 1
5-180057744-C-G c.211G>C p.G71R Missense 3/30 - 3
5-180057744-C-T c.211G>A p.G71R Missense 3/30 - 11
5-180057745-G-A c.210C>T p.T70= Synonymous 3/30 - 1
5-180057745-G-T c.210C>A p.T70= Synonymous 3/30 - 3
5-180057746-G-A c.209C>T p.T70I Missense 3/30 - 1
5-180057746-G-C c.209C>G p.T70S Missense 3/30 - 1
5-180057747-T-G c.208A>C p.T70P Missense 3/30 - 1
5-180057748-GG-CT c.206_207delinsAG p.A69E Missense 3/30 - 1
5-180057749-G-A c.206C>T p.A69V Missense 3/30 - 1
5-180057749-G-C c.206C>G p.A69G Missense 3/30 - 1
5-180057749-GC-TG c.205_206delinsCA p.A69H Missense 3/30 - 1
5-180057750-C-A c.205G>T p.A69S Missense 3/30 - 1
5-180057750-C-T c.205G>A p.A69T Missense 3/30 - 2
5-180057751-T-A c.204A>T p.P68= Synonymous 3/30 - 1
5-180057751-T-C c.204A>G p.P68= Synonymous 3/30 - 1
5-180057751-T-G c.204A>C p.P68= Synonymous 3/30 - 1
5-180057752-GG-AC c.202_203delinsGT p.P68V Missense 3/30 - 1
5-180057754-C-A c.201G>T p.A67= Synonymous 3/30 - 1
5-180057755-G-A c.200C>T p.A67V Missense 3/30 - 4
5-180057755-GC-CT c.199_200delinsAG p.A67R Missense 3/30 - 1
5-180057755-GC-TG c.199_200delinsCA p.A67Q Missense 3/30 - 1
5-180057756-C-T c.199G>A p.A67T Missense 3/30 - 1
5-180057757-C-A c.198G>T p.E66D Missense 3/30 - 1
5-180057757-C-G c.198G>C p.E66D Missense 3/30 - 1
5-180057759-C-T c.196G>A p.E66K Missense 3/30 - 1
5-180057760-C-T c.195G>A p.Q65= Synonymous 3/30 - 2
5-180057761-T-A c.194A>T p.Q65L Missense 3/30 - 3
5-180057761-T-G c.194A>C p.Q65P Missense 3/30 - 3
5-180057762-G-A c.193C>T p.Q65* Nonsense 3/30 - 1
5-180057763-A-C c.192T>G p.A64= Synonymous 3/30 - 1
5-180057763-A-G c.192T>C p.A64= Synonymous 3/30 - 1
5-180057763-A-T c.192T>A p.A64= Synonymous 3/30 - 1
5-180057764-G-T c.191C>A p.A64D Missense 3/30 - 1
5-180057765-C-T c.190G>A p.A64T Missense 3/30 - 1
5-180057766-T-C c.189A>G p.G63= Synonymous 3/30 - 2
5-180057768-C-A c.187G>T p.G63* Nonsense 3/30 - 1
5-180057769-T-A c.186A>T p.P62= Synonymous 3/30 - 5
5-180057769-T-C c.186A>G p.P62= Synonymous 3/30 - 5
5-180057769-T-G c.186A>C p.P62= Synonymous 3/30 - 5
5-180057771-G-A c.184C>T p.P62S Missense 3/30 - 1
5-180057771-GC-G c.183del p.W61Cfs*72 Frameshift 3/30 - 1
5-180057773-C-A c.182G>T p.W61L Missense 3/30 - 1
5-180057774-A-C c.181T>G p.W61G Missense 3/30 - 1
5-180057775-A-C c.180T>G p.A60= Synonymous 3/30 - 1
5-180057775-A-G c.180T>C p.A60= Synonymous 3/30 - 1
5-180057775-AG-CT c.179_180inv p.A60E Missense 3/30 - 1
5-180057775-A-T c.180T>A p.A60= Synonymous 3/30 - 1
5-180057776-G-C c.179C>G p.A60G Missense 3/30 - 2
5-180057777-C-T c.178G>A p.A60T Missense 3/30 - 2
5-180057781-C-T c.174G>A p.E58= Synonymous 3/30 - 1
5-180057783-C-A c.172G>T p.E58* Nonsense 3/30 - 1
5-180057783-C-G c.172G>C p.E58Q Missense 3/30 - 1
5-180057783-C-T c.172G>A p.E58K Missense 3/30 - 1
5-180057787-G-A c.168C>T p.P56= Synonymous 3/30 - 1
5-180057787-G-C c.168C>G p.P56= Synonymous 3/30 - 1
5-180057787-G-T c.168C>A p.P56= Synonymous 3/30 - 1
5-180057788-G-A c.167C>T p.P56L Missense 3/30 - 3
5-180057790-G-A c.165C>T p.H55= Synonymous 3/30 - 2
5-180057790-G-C c.165C>G p.H55Q Missense 3/30 - 1
5-180057790-G-T c.165C>A p.H55Q Missense 3/30 - 1
5-180057792-G-A c.163C>T p.H55Y Missense 3/30 - 3
5-180057793-C-T c.162G>A p.Q54= Synonymous 3/30 - 1
5-180057798-C-G c.157G>C p.G53R Missense 3/30 - 1
5-180057798-C-T c.157G>A p.G53R Missense 3/30 - 3
5-180058008-C-A c.156-209G>T - IntronicSNV - 2/29 2
5-180058008-C-T c.156-209G>A - IntronicSNV - 2/29 2
5-180058064-C-A c.156-265G>T - IntronicSNV - 2/29 1
5-180058064-C-T c.156-265G>A - IntronicSNV - 2/29 1
5-180058365-T-C c.155+317A>G - IntronicSNV - 2/29 1
5-180058451-T-C c.155+231A>G - IntronicSNV - 2/29 1
5-180058474-G-GA c.155+207dup - IntronicInsertion - 2/29 1
5-180058677-A-C c.155+5T>G - IntronicSNV - 2/29 1
5-180058681-C-T c.155+1G>A - IntronicSNV - 2/29 2
5-180058682-CCT-C c.154_155del p.R52Gfs*84 SpliceDonorDeletion 2/30 - 1
5-180058684-G-C c.153C>G p.C51W Missense 2/30 - 3
5-180058685-C-G c.152G>C p.C51S Missense 2/30 - 1
5-180058686-A-T c.151T>A p.C51S Missense 2/30 - 1
5-180058688-G-A c.149C>T p.S50F Missense 2/30 - 2
5-180058688-G-C c.149C>G p.S50C Missense 2/30 - 1
5-180058689-A-T c.148T>A p.S50T Missense 2/30 - 2
5-180058690-G-A c.147C>T p.I49= Synonymous 2/30 - 1
5-180058691-A-C c.146T>G p.I49S Missense 2/30 - 1
5-180058691-A-G c.146T>C p.I49T Missense 2/30 - 1
5-180058693-G-A c.144C>T p.S48= Synonymous 2/30 - 2
5-180058693-G-T c.144C>A p.S48= Synonymous 2/30 - 1
5-180058698-G-T c.139C>A p.L47M Missense 2/30 - 1
5-180058700-C-G c.137G>C p.S46T Missense 2/30 - 1
5-180058700-C-T c.137G>A p.S46N Missense 2/30 - 3
5-180058704-C-T c.133G>A p.D45N Missense 2/30 - 1
5-180058703-TCAC-T c.131_133del p.G44del InFrameDeletion 2/30 - 1
5-180058707-C-T c.130G>A p.G44S Missense 2/30 - 3
5-180058708-G-A c.129C>T p.T43= Synonymous 2/30 - 1
5-180058709-G-C c.128C>G p.T43S Missense 2/30 - 1
5-180058710-T-A c.127A>T p.T43S Missense 2/30 - 1
5-180058713-C-T c.124G>A p.D42N Missense 2/30 - 4
5-180058714-G-A c.123C>T p.I41= Synonymous 2/30 - 2
5-180058714-G-T c.123C>A p.I41= Synonymous 2/30 - 1
5-180058717-G-A c.120C>T p.V40= Synonymous 2/30 - 1
5-180058719-C-A c.118G>T p.V40F Missense 2/30 - 1
5-180058719-C-T c.118G>A p.V40I Missense 2/30 - 6
5-180058721-T-G c.116A>C p.H39P Missense 2/30 - 1
5-180058724-G-A c.113C>T p.S38L Missense 2/30 - 2
5-180058728-C-A c.109G>T p.E37* Nonsense 2/30 - 1
5-180058728-C-T c.109G>A p.E37K Missense 2/30 - 1
5-180058729-C-T c.108G>A p.E36= Synonymous 2/30 - 1
5-180058731-C-A c.106G>T p.E36* Nonsense 2/30 - 2
5-180058731-C-T c.106G>A p.E36K Missense 2/30 - 2
5-180058734-T-A c.103A>T p.T35S Missense 2/30 - 1
5-180058736-A-G c.101T>C p.I34T Missense 2/30 - 1
5-180058739-T-C c.98A>G p.N33S Missense 2/30 - 1
5-180058739-T-G c.98A>C p.N33T Missense 2/30 - 1
5-180058741-C-T c.96G>A p.L32= Synonymous 2/30 - 1
5-180058743-A-G c.94T>C p.L32= Synonymous 2/30 - 1
5-180058743-A-T c.94T>A p.L32M Missense 2/30 - 3
5-180058745-G-T c.92C>A p.T31N Missense 2/30 - 1
5-180058746-T-C c.91A>G p.T31A Missense 2/30 - 1
5-180058746-T-TC c.90dup p.T31Dfs*15 Frameshift 2/30 - 1
5-180058747-C-A c.90G>T p.P30= Synonymous 2/30 - 1
5-180058747-C-G c.90G>C p.P30= Synonymous 2/30 - 1
5-180058747-CGG-AAA c.88_90delinsTTT p.P30F Missense 2/30 - 1
5-180058747-C-T c.90G>A p.P30= Synonymous 2/30 - 3
5-180058748-G-A c.89C>T p.P30L Missense 2/30 - 3
5-180058748-G-C c.89C>G p.P30R Missense 2/30 - 3
5-180058749-G-A c.88C>T p.P30S Missense 2/30 - 3
5-180058750-G-A c.87C>T p.P29= Synonymous 2/30 - 1
5-180058750-G-C c.87C>G p.P29= Synonymous 2/30 - 2
5-180058751-G-A c.86C>T p.P29L Missense 2/30 - 1
5-180058752-G-A c.85C>T p.P29S Missense 2/30 - 4
5-180058753-G-GT c.83_84insA p.T31Dfs*15 Frameshift 2/30 - 1
5-180058747-C-CG c.89dup p.T31Dfs*15 Frameshift 2/30 - 4
5-180058747-CG-C c.89del p.P30Rfs*3 Frameshift 2/30 - 20
5-180058754-G-A c.83C>T p.T28I Missense 2/30 - 1
5-180058756-C-CA c.80dup p.M27Ifs*19 Frameshift 2/30 - 1
5-180058757-A-T c.80T>A p.M27K Missense 2/30 - 1
5-180058759-G-A c.78C>T p.S26= Synonymous 2/30 - 1
5-180058760-G-A c.77C>T p.S26F Missense 2/30 - 1
5-180058760-G-T c.77C>A p.S26Y Missense 2/30 - 1
5-180058761-A-C c.76T>G p.S26A Missense 2/30 - 4
5-180058761-A-G c.76T>C p.S26P Missense 2/30 - 1
5-180058761-A-T c.76T>A p.S26T Missense 2/30 - 1
5-180058762-G-C c.75C>G p.Y25* Nonsense 2/30 - 1
5-180058762-G-T c.75C>A p.Y25* Nonsense 2/30 - 2
5-180058763-T-C c.74A>G p.Y25C Missense 2/30 - 1
5-180058765-GC-G c.71del p.G24Afs*4 Frameshift 2/30 - 1
5-180058769-CT-GC c.67_68delinsGC p.S23A Missense 2/30 - 1
5-180058770-T-TG c.66_67insC p.S23Qfs*23 Frameshift 2/30 - 1
5-180058771-C-T c.66G>A p.V22= Synonymous 2/30 - 1
5-180058772-A-ATT c.64_65insAA p.V22Efs*2 Frameshift 2/30 - 1
5-180058774-C-T c.63G>A p.L21= Synonymous 2/30 - 2
5-180058776-G-GA c.60_61insT p.L21Sfs*25 SpliceAcceptorInsertion 2/30 - 1
5-180058776-G-GC c.60_61insG p.L21Afs*25 SpliceAcceptorInsertion 2/30 - 1
5-180058776-G-GT c.60_61insA p.L21Tfs*25 SpliceAcceptorInsertion 2/30 - 1
5-180058775-A-AG c.61dup p.L21Pfs*25 Frameshift 2/30 - 1
5-180058775-AG-A c.61del p.L21Wfs*2 Frameshift 2/30 - 1
5-180058777-G-C c.60C>G p.G20= Synonymous 2/30 - 5
5-180058777-G-T c.60C>A p.G20= Synonymous 2/30 - 4
5-180058778-C-A c.59G>T p.G20V Missense 2/30 - 1
5-180058777-GC-G c.59del - Frameshift - 1/29 1
5-180058830-G-A c.59-52C>T - IntronicSNV - 1/29 1
5-180058842-T-C c.59-64A>G - IntronicSNV - 1/29 2
5-180058963-G-A c.59-185C>T - IntronicSNV - 1/29 3
5-180060804-G-C c.59-2026C>G - IntronicSNV - 1/29 3
5-180060804-G-T c.59-2026C>A - IntronicSNV - 1/29 3
5-180062502-G-A c.59-3724C>T - IntronicSNV - 1/29 1
5-180063743-C-T c.59-4965G>A - IntronicSNV - 1/29 1
5-180065103-C-T c.59-6325G>A - IntronicSNV - 1/29 1
5-180065455-A-G c.59-6677T>C - IntronicSNV - 1/29 1
5-180067675-G-A c.58+8813C>T - IntronicSNV - 1/29 4
5-180067807-C-G c.58+8681G>C - IntronicSNV - 1/29 1
5-180068009-T-C c.58+8479A>G - IntronicSNV - 1/29 1
5-180068741-G-A c.58+7747C>T - IntronicSNV - 1/29 4
5-180069392-G-T c.58+7096C>A - IntronicSNV - 1/29 1
5-180071163-G-A c.58+5325C>T - IntronicSNV - 1/29 1
5-180071276-G-A c.58+5212C>T - IntronicSNV - 1/29 4
5-180071276-G-T c.58+5212C>A - IntronicSNV - 1/29 4
5-180072452-GC-G c.58+4035del - IntronicDeletion - 1/29 1
5-180072653-A-C c.58+3835T>G - IntronicSNV - 1/29 5
5-180072653-A-G c.58+3835T>C - IntronicSNV - 1/29 5
5-180072786-T-C c.58+3702A>G - IntronicSNV - 1/29 1
5-180072810-A-G c.58+3678T>C - IntronicSNV - 1/29 1
5-180072814-T-C c.58+3674A>G - IntronicSNV - 1/29 1
5-180073930-GGT-G c.58+2556_58+2557del - IntronicDeletion - 1/29 1
5-180074248-T-C c.58+2240A>G - IntronicSNV - 1/29 5
5-180076240-A-G c.58+248T>C - IntronicSNV - 1/29 1
5-180076403-C-T c.58+85G>A - IntronicSNV - 1/29 2
5-180076480-G-A c.58+8C>T - IntronicSNV - 1/29 1
5-180076488-C-T c.58G>A p.G20S Missense 1/30 - 1
5-180076490-T-A c.56A>T p.D19V Missense 1/30 - 2
5-180076493-AG-GC c.52_53delinsGC p.L18A Missense 1/30 - 1
5-180076494-G-C c.52C>G p.L18V Missense 1/30 - 1
5-180076504-GCA-CTC c.40_42delinsGAG p.C14E Missense 1/30 - 1
5-180076505-C-A c.41G>T p.C14F Missense 1/30 - 1
5-180076514-AG-TA c.31_32delinsTA p.L11* Nonsense 1/30 - 1
5-180076517-CG-GT c.28_29delinsAC p.R10T Missense 1/30 - 1
5-180076518-G-A c.28C>T p.R10* Nonsense 1/30 - 1
5-180076518-G-C c.28C>G p.R10G Missense 1/30 - 2
5-180076522-G-A c.24C>T p.C8= Synonymous 1/30 - 3
5-180076522-G-T c.24C>A p.C8* Nonsense 1/30 - 1
5-180076531-G-A c.15C>T p.A5= Synonymous 1/30 - 1
5-180076531-G-C c.15C>G p.A5= Synonymous 1/30 - 1
5-180076531-G-T c.15C>A p.A5= Synonymous 1/30 - 1
5-180076534-G-A c.12C>T p.G4= Synonymous 1/30 - 1
5-180076534-G-C c.12C>G p.G4= Synonymous 1/30 - 1
5-180076534-G-T c.12C>A p.G4= Synonymous 1/30 - 1
5-180076536-C-CGG c.9_10insCC p.G4Pfs*20 Frameshift 1/30 - 1
5-180076538-C-A c.8G>T p.R3L Missense 1/30 - 1
5-180076538-C-T c.8G>A p.R3Q Missense 1/30 - 1
5-180076537-C-A c.9G>T p.R3= Synonymous 1/30 - 1
5-180076537-C-G c.9G>C p.R3= Synonymous 1/30 - 1
5-180076537-C-T c.9G>A p.R3= Synonymous 1/30 - 1
5-180076539-G-A c.7C>T p.R3W Missense 1/30 - 1
5-180076539-G-T c.7C>A p.R3= Synonymous 1/30 - 1
5-180076540-C-T c.6G>A p.Q2= Synonymous 1/30 - 1
5-180076543-C-A c.3G>T p.M1? Missense 1/30 - 1