LIPC

LIPC lipase C, hepatic type

Annotation transcript: NM_000236.3

974 unique variant annotations were identified in 718 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
15-58724217-G-A c.-15G>A - 5-UTRSNV 1/9 - 1
15-58724234-G-A c.3G>A p.M1? Missense 1/9 - 1
15-58724236-A-T c.5A>T p.D2V Missense 1/9 - 1
15-58724239-C-T c.8C>T p.T3I Missense 1/9 - 2
15-58724239-C-CA c.10dup p.S4Kfs*37 Frameshift 1/9 - 1
15-58724242-G-A c.11G>A p.S4N Missense 1/9 - 1
15-58724245-C-G c.14C>G p.P5R Missense 1/9 - 1
15-58724246-C-T c.15C>T p.P5= Synonymous 1/9 - 2
15-58724248-T-A c.17T>A p.L6Q Missense 1/9 - 1
15-58724248-T-C c.17T>C p.L6P Missense 1/9 - 1
15-58724255-C-G c.24C>G p.F8L Missense 1/9 - 2
15-58724265-T-C c.34T>C p.L12= Synonymous 1/9 - 1
15-58724271-T-G c.40T>G p.L14V Missense 1/9 - 1
15-58724272-T-C c.41T>C p.L14S Missense 1/9 - 1
15-58724279-C-T c.48C>T p.I16= Synonymous 1/9 - 1
15-58724280-T-G c.49T>G p.F17V Missense 1/9 - 1
15-58724282-TATCC-T c.53_56del p.I18Nfs*9 Frameshift 1/9 - 1
15-58724286-C-A c.55C>A p.Q19K Missense 1/9 - 1
15-58724286-C-T c.55C>T p.Q19* Nonsense 1/9 - 1
15-58724289-T-C c.58T>C p.S20P Missense 1/9 - 1
15-58724289-T-G c.58T>G p.S20A Missense 1/9 - 1
15-58724291-A-C c.60A>C p.S20= Synonymous 1/9 - 1
15-58724291-A-G c.60A>G p.S20= Synonymous 1/9 - 1
15-58724291-A-T c.60A>T p.S20= Synonymous 1/9 - 1
15-58724292-AG-CT c.61_62inv p.S21L Missense 1/9 - 2
15-58724292-A-C c.61A>C p.S21R Missense 1/9 - 1
15-58724294-T-A c.63T>A p.S21R Missense 1/9 - 1
15-58724294-T-C c.63T>C p.S21= Synonymous 1/9 - 1
15-58724294-T-G c.63T>G p.S21R Missense 1/9 - 1
15-58724295-G-A c.64G>A p.A22T Missense 1/9 - 1
15-58724295-GCC-AAG c.64_66delinsAAG p.A22K Missense 1/9 - 1
15-58724295-G-T c.64G>T p.A22S Missense 1/9 - 1
15-58724297-C-A c.66C>A p.A22= Synonymous 1/9 - 1
15-58724297-C-G c.66C>G p.A22= Synonymous 1/9 - 1
15-58724297-C-T c.66C>T p.A22= Synonymous 1/9 - 1
15-58724298-C-T c.67C>T p.L23F Missense 1/9 - 3
15-58724301-GGA-AGC c.70_72delinsAGC p.G24S Missense 1/9 - 1
15-58724309-C-A c.78C>A p.S26R Missense 1/9 - 1
15-58724309-C-G c.78C>G p.S26R Missense 1/9 - 1
15-58724316-C-G c.85C>G p.P29A Missense 1/9 - 3
15-58724319-G-C c.88G>C p.E30Q Missense 1/9 - 1
15-58724330-G-C c.88+11G>C - IntronicSNV - 1/8 1
15-58724371-C-T c.88+52C>T - IntronicSNV - 1/8 11
15-58724376-G-C c.88+57G>C - IntronicSNV - 1/8 1
15-58724383-A-G c.88+64A>G - IntronicSNV - 1/8 5
15-58724403-T-G c.88+84T>G - IntronicSNV - 1/8 1
15-58724416-G-A c.88+97G>A - IntronicSNV - 1/8 1
15-58724430-G-A c.88+111G>A - IntronicSNV - 1/8 1
15-58724451-G-A c.88+132G>A - IntronicSNV - 1/8 1
15-58724456-C-T c.88+137C>T - IntronicSNV - 1/8 1
15-58724464-C-G c.88+145C>G - IntronicSNV - 1/8 1
15-58724466-C-G c.88+147C>G - IntronicSNV - 1/8 1
15-58724475-G-A c.88+156G>A - IntronicSNV - 1/8 1
15-58724496-T-A c.88+177T>A - IntronicSNV - 1/8 1
15-58724519-G-A c.88+200G>A - IntronicSNV - 1/8 1
15-58724524-A-G c.88+205A>G - IntronicSNV - 1/8 7
15-58724523-TAA-T c.88+207_88+208del - IntronicDeletion - 1/8 1
15-58724533-C-G c.88+214C>G - IntronicSNV - 1/8 1
15-58724555-G-C c.88+236G>C - IntronicSNV - 1/8 1
15-58724565-T-C c.88+246T>C - IntronicSNV - 1/8 1
15-58724569-G-A c.88+250G>A - IntronicSNV - 1/8 1
15-58724706-G-A c.88+387G>A - IntronicSNV - 1/8 1
15-58724706-G-T c.88+387G>T - IntronicSNV - 1/8 1
15-58724792-T-A c.88+473T>A - IntronicSNV - 1/8 7
15-58724842-G-A c.88+523G>A - IntronicSNV - 1/8 2
15-58725839-A-G c.88+1520A>G - IntronicSNV - 1/8 2
15-58726463-G-A c.88+2144G>A - IntronicSNV - 1/8 1
15-58726463-G-C c.88+2144G>C - IntronicSNV - 1/8 1
15-58726744-G-C c.88+2425G>C - IntronicSNV - 1/8 15
15-58726968-C-CACTGCTCCAAAGAGCAGCT c.88+2649_88+2650insACTGCTCCAAAGAGCAGCT - IntronicInsertion - 1/8 1
15-58726968-C-CAGCT c.88+2649_88+2650insAGCT - IntronicInsertion - 1/8 1
15-58727279-T-C c.88+2960T>C - IntronicSNV - 1/8 2
15-58727325-A-G c.88+3006A>G - IntronicSNV - 1/8 25
15-58728878-C-T c.88+4559C>T - IntronicSNV - 1/8 1
15-58728924-G-A c.88+4605G>A - IntronicSNV - 1/8 1
15-58729144-C-T c.88+4825C>T - IntronicSNV - 1/8 1
15-58729586-GA-G c.88+5276del - IntronicDeletion - 1/8 1
15-58730498-C-G c.88+6179C>G - IntronicSNV - 1/8 11
15-58730498-C-T c.88+6179C>T - IntronicSNV - 1/8 11
15-58730571-T-C c.88+6252T>C - IntronicSNV - 1/8 1
15-58730639-C-G c.88+6320C>G - IntronicSNV - 1/8 2
15-58730889-A-G c.88+6570A>G - IntronicSNV - 1/8 2
15-58731127-A-T c.88+6808A>T - IntronicSNV - 1/8 1
15-58731153-G-A c.88+6834G>A - IntronicSNV - 1/8 21
15-58731153-G-C c.88+6834G>C - IntronicSNV - 1/8 22
15-58731153-G-T c.88+6834G>T - IntronicSNV - 1/8 21
15-58731191-C-A c.88+6872C>A - IntronicSNV - 1/8 1
15-58731200-C-T c.88+6881C>T - IntronicSNV - 1/8 1
15-58731567-A-G c.88+7248A>G - IntronicSNV - 1/8 4
15-58732204-G-A c.88+7885G>A - IntronicSNV - 1/8 1
15-58732221-C-T c.88+7902C>T - IntronicSNV - 1/8 1
15-58732468-G-A c.88+8149G>A - IntronicSNV - 1/8 1
15-58734645-C-T c.88+10326C>T - IntronicSNV - 1/8 2
15-58735005-A-G c.88+10686A>G - IntronicSNV - 1/8 4
15-58736623-G-A c.88+12304G>A - IntronicSNV - 1/8 2
15-58736623-G-C c.88+12304G>C - IntronicSNV - 1/8 2
15-58736778-C-T c.88+12459C>T - IntronicSNV - 1/8 1
15-58737135-G-C c.88+12816G>C - IntronicSNV - 1/8 1
15-58737341-T-A c.88+13022T>A - IntronicSNV - 1/8 6
15-58737341-T-G c.88+13022T>G - IntronicSNV - 1/8 6
15-58737382-G-A c.88+13063G>A - IntronicSNV - 1/8 1
15-58737383-C-A c.88+13064C>A - IntronicSNV - 1/8 1
15-58737661-C-A c.88+13342C>A - IntronicSNV - 1/8 1
15-58738075-G-A c.88+13756G>A - IntronicSNV - 1/8 1
15-58738760-G-A c.88+14441G>A - IntronicSNV - 1/8 1
15-58740094-C-G c.88+15775C>G - IntronicSNV - 1/8 2
15-58740094-C-T c.88+15775C>T - IntronicSNV - 1/8 2
15-58740541-T-A c.88+16222T>A - IntronicSNV - 1/8 1
15-58740588-C-A c.88+16269C>A - IntronicSNV - 1/8 1
15-58740588-C-T c.88+16269C>T - IntronicSNV - 1/8 1
15-58741384-C-G c.88+17065C>G - IntronicSNV - 1/8 2
15-58741384-C-T c.88+17065C>T - IntronicSNV - 1/8 2
15-58741884-T-A c.88+17565T>A - IntronicSNV - 1/8 1
15-58741884-T-C c.88+17565T>C - IntronicSNV - 1/8 1
15-58742418-G-A c.88+18099G>A - IntronicSNV - 1/8 9
15-58742731-T-G c.88+18412T>G - IntronicSNV - 1/8 7
15-58743022-G-T c.88+18703G>T - IntronicSNV - 1/8 1
15-58743709-C-T c.88+19390C>T - IntronicSNV - 1/8 1
15-58746830-T-C c.88+22511T>C - IntronicSNV - 1/8 5
15-58748906-G-T c.88+24587G>T - IntronicSNV - 1/8 2
15-58749155-T-A c.88+24836T>A - IntronicSNV - 1/8 1
15-58749155-T-C c.88+24836T>C - IntronicSNV - 1/8 1
15-58750024-C-G c.88+25705C>G - IntronicSNV - 1/8 1
15-58751201-T-A c.88+26882T>A - IntronicSNV - 1/8 1
15-58751877-T-A c.88+27558T>A - IntronicSNV - 1/8 1
15-58751877-T-G c.88+27558T>G - IntronicSNV - 1/8 1
15-58752734-C-A c.88+28415C>A - IntronicSNV - 1/8 1
15-58752890-C-A c.88+28571C>A - IntronicSNV - 1/8 2
15-58756149-C-G c.88+31830C>G - IntronicSNV - 1/8 1
15-58756149-C-T c.88+31830C>T - IntronicSNV - 1/8 1
15-58756173-C-T c.88+31854C>T - IntronicSNV - 1/8 2
15-58757378-G-A c.88+33059G>A - IntronicSNV - 1/8 1
15-58757927-C-G c.88+33608C>G - IntronicSNV - 1/8 1
15-58758548-G-A c.88+34229G>A - IntronicSNV - 1/8 2
15-58759459-G-A c.88+35140G>A - IntronicSNV - 1/8 1
15-58759459-G-C c.88+35140G>C - IntronicSNV - 1/8 1
15-58760975-C-A c.88+36656C>A - IntronicSNV - 1/8 1
15-58765183-T-A c.88+40864T>A - IntronicSNV - 1/8 2
15-58765183-T-C c.88+40864T>C - IntronicSNV - 1/8 2
15-58765183-T-G c.88+40864T>G - IntronicSNV - 1/8 2
15-58765524-G-A c.88+41205G>A - IntronicSNV - 1/8 1
15-58767754-C-A c.88+43435C>A - IntronicSNV - 1/8 5
15-58767754-C-G c.88+43435C>G - IntronicSNV - 1/8 5
15-58769583-C-T c.88+45264C>T - IntronicSNV - 1/8 1
15-58771675-G-A c.88+47356G>A - IntronicSNV - 1/8 1
15-58774109-T-A c.88+49790T>A - IntronicSNV - 1/8 2
15-58774109-T-C c.88+49790T>C - IntronicSNV - 1/8 3
15-58778412-G-C c.89-52120G>C - IntronicSNV - 1/8 1
15-58779039-T-C c.89-51493T>C - IntronicSNV - 1/8 3
15-58779641-C-A c.89-50891C>A - IntronicSNV - 1/8 3
15-58779703-G-A c.89-50829G>A - IntronicSNV - 1/8 1
15-58780013-G-A c.89-50519G>A - IntronicSNV - 1/8 1
15-58782595-A-G c.89-47937A>G - IntronicSNV - 1/8 2
15-58786959-G-A c.89-43573G>A - IntronicSNV - 1/8 1
15-58791354-T-C c.89-39178T>C - IntronicSNV - 1/8 5
15-58795513-A-G c.89-35019A>G - IntronicSNV - 1/8 1
15-58796245-C-G c.89-34287C>G - IntronicSNV - 1/8 2
15-58797499-C-T c.89-33033C>T - IntronicSNV - 1/8 1
15-58798706-A-G c.89-31826A>G - IntronicSNV - 1/8 1
15-58798813-T-A c.89-31719T>A - IntronicSNV - 1/8 1
15-58798813-T-C c.89-31719T>C - IntronicSNV - 1/8 1
15-58799754-A-G c.89-30778A>G - IntronicSNV - 1/8 1
15-58800766-T-C c.89-29766T>C - IntronicSNV - 1/8 3
15-58801541-T-A c.89-28991T>A - IntronicSNV - 1/8 1
15-58801541-T-C c.89-28991T>C - IntronicSNV - 1/8 1
15-58801800-A-C c.89-28732A>C - IntronicSNV - 1/8 1
15-58801800-A-G c.89-28732A>G - IntronicSNV - 1/8 1
15-58801800-A-T c.89-28732A>T - IntronicSNV - 1/8 1
15-58801943-A-G c.89-28589A>G - IntronicSNV - 1/8 6
15-58801943-A-T c.89-28589A>T - IntronicSNV - 1/8 6
15-58804663-T-C c.89-25869T>C - IntronicSNV - 1/8 1
15-58804778-C-T c.89-25754C>T - IntronicSNV - 1/8 1
15-58808079-T-G c.89-22453T>G - IntronicSNV - 1/8 3
15-58808174-G-A c.89-22358G>A - IntronicSNV - 1/8 2
15-58808174-G-C c.89-22358G>C - IntronicSNV - 1/8 2
15-58808578-C-T c.89-21954C>T - IntronicSNV - 1/8 2
15-58809493-G-C c.89-21039G>C - IntronicSNV - 1/8 1
15-58809493-G-T c.89-21039G>T - IntronicSNV - 1/8 1
15-58811869-A-G c.89-18663A>G - IntronicSNV - 1/8 2
15-58812083-C-A c.89-18449C>A - IntronicSNV - 1/8 1
15-58812083-C-G c.89-18449C>G - IntronicSNV - 1/8 1
15-58812083-C-T c.89-18449C>T - IntronicSNV - 1/8 1
15-58812199-C-T c.89-18333C>T - IntronicSNV - 1/8 3
15-58813213-A-G c.89-17319A>G - IntronicSNV - 1/8 1
15-58813213-A-T c.89-17319A>T - IntronicSNV - 1/8 1
15-58813229-T-C c.89-17303T>C - IntronicSNV - 1/8 1
15-58813566-A-C c.89-16966A>C - IntronicSNV - 1/8 1
15-58813566-A-T c.89-16966A>T - IntronicSNV - 1/8 1
15-58813619-G-A c.89-16913G>A - IntronicSNV - 1/8 1
15-58815320-G-A c.89-15212G>A - IntronicSNV - 1/8 1
15-58818783-G-A c.89-11749G>A - IntronicSNV - 1/8 4
15-58822697-G-A c.89-7835G>A - IntronicSNV - 1/8 1
15-58822697-G-T c.89-7835G>T - IntronicSNV - 1/8 1
15-58822785-T-A c.89-7747T>A - IntronicSNV - 1/8 1
15-58822785-T-C c.89-7747T>C - IntronicSNV - 1/8 1
15-58824641-A-G c.89-5891A>G - IntronicSNV - 1/8 2
15-58825713-T-A c.89-4819T>A - IntronicSNV - 1/8 1
15-58825713-T-C c.89-4819T>C - IntronicSNV - 1/8 1
15-58827870-A-G c.89-2662A>G - IntronicSNV - 1/8 1
15-58828584-A-T c.89-1948A>T - IntronicSNV - 1/8 1
15-58829215-A-T c.89-1317A>T - IntronicSNV - 1/8 5
15-58830511-G-A c.89-21G>A - IntronicSNV - 1/8 1
15-58830533-G-C c.90G>C p.E30D Missense 2/9 - 1
15-58830533-G-T c.90G>T p.E30D Missense 2/9 - 1
15-58830534-C-A c.91C>A p.P31T Missense 2/9 - 1
15-58830535-C-T c.92C>T p.P31L Missense 2/9 - 1
15-58830536-A-C c.93A>C p.P31= Synonymous 2/9 - 1
15-58830537-T-C c.94T>C p.F32L Missense 2/9 - 1
15-58830539-T-A c.96T>A p.F32L Missense 2/9 - 1
15-58830539-T-G c.96T>G p.F32L Missense 2/9 - 1
15-58830540-G-A c.97G>A p.G33R Missense 2/9 - 1
15-58830540-G-C c.97G>C p.G33R Missense 2/9 - 1
15-58830547-G-A c.104G>A p.R35K Missense 2/9 - 1
15-58830550-C-T c.107C>T p.A36V Missense 2/9 - 3
15-58830551-T-A c.108T>A p.A36= Synonymous 2/9 - 1
15-58830551-T-C c.108T>C p.A36= Synonymous 2/9 - 1
15-58830551-T-G c.108T>G p.A36= Synonymous 2/9 - 1
15-58830555-G-T c.112G>T p.A38S Missense 2/9 - 1
15-58830561-G-A c.118G>A p.E40K Missense 2/9 - 2
15-58830564-ACA-TGT c.121_123inv p.T41C Missense 2/9 - 1
15-58830574-C-T c.131C>T p.T44M Missense 2/9 - 3
15-58830575-G-A c.132G>A p.T44= Synonymous 2/9 - 5
15-58830577-T-A c.134T>A p.L45Q Missense 2/9 - 1
15-58830576-C-T c.133C>T p.L45= Synonymous 2/9 - 3
15-58830578-G-A c.135G>A p.L45= Synonymous 2/9 - 1
15-58830578-G-C c.135G>C p.L45= Synonymous 2/9 - 1
15-58830578-G-T c.135G>T p.L45= Synonymous 2/9 - 1
15-58830579-C-G c.136C>G p.H46D Missense 2/9 - 1
15-58830580-A-T c.137A>T p.H46L Missense 2/9 - 1
15-58830586-T-C c.143T>C p.M48T Missense 2/9 - 1
15-58830586-T-G c.143T>G p.M48R Missense 2/9 - 1
15-58830589-A-C c.146A>C p.K49T Missense 2/9 - 1
15-58830592-C-G c.149C>G p.T50S Missense 2/9 - 1
15-58830592-C-T c.149C>T p.T50I Missense 2/9 - 1
15-58830595-G-C c.152G>C p.R51T Missense 2/9 - 8
15-58830599-C-A c.156C>A p.F52L Missense 2/9 - 1
15-58830601-T-C c.158T>C p.L53P Missense 2/9 - 1
15-58830603-C-A c.160C>A p.L54I Missense 2/9 - 2
15-58830605-C-A c.162C>A p.L54= Synonymous 2/9 - 2
15-58830605-C-G c.162C>G p.L54= Synonymous 2/9 - 2
15-58830605-C-T c.162C>T p.L54= Synonymous 2/9 - 2
15-58830606-T-G c.163T>G p.F55V Missense 2/9 - 2
15-58830608-T-G c.165T>G p.F55L Missense 2/9 - 1
15-58830609-G-A c.166G>A p.G56R Missense 2/9 - 1
15-58830612-G-A c.169G>A p.E57K Missense 2/9 - 2
15-58830612-G-T c.169G>T p.E57* Nonsense 2/9 - 1
15-58830616-C-T c.173C>T p.T58I Missense 2/9 - 4
15-58830620-T-A c.177T>A p.N59K Missense 2/9 - 1
15-58830620-T-G c.177T>G p.N59K Missense 2/9 - 1
15-58830621-C-G c.178C>G p.Q60E Missense 2/9 - 1
15-58830623-G-C c.180G>C p.Q60H Missense 2/9 - 1
15-58830623-G-T c.180G>T p.Q60H Missense 2/9 - 2
15-58830624-G-T c.181G>T p.G61C Missense 2/9 - 1
15-58830626-C-T c.183C>T p.G61= Synonymous 2/9 - 3
15-58830630-C-G c.187C>G p.Q63E Missense 2/9 - 1
15-58830636-C-A c.193C>A p.R65= Synonymous 2/9 - 1
15-58830636-C-T c.193C>T p.R65* Nonsense 2/9 - 10
15-58830638-A-C c.195A>C p.R65= Synonymous 2/9 - 1
15-58830638-A-G c.195A>G p.R65= Synonymous 2/9 - 1
15-58830638-A-T c.195A>T p.R65= Synonymous 2/9 - 1
15-58830637-G-A c.194G>A p.R65Q Missense 2/9 - 4
15-58830639-A-G c.196A>G p.I66V Missense 2/9 - 2
15-58830645-C-G c.202C>G p.H68D Missense 2/9 - 2
15-58830645-C-T c.202C>T p.H68Y Missense 2/9 - 2
15-58830649-C-A c.206C>A p.P69Q Missense 2/9 - 2
15-58830649-C-T c.206C>T p.P69L Missense 2/9 - 7
15-58830650-G-A c.207G>A p.P69= Synonymous 2/9 - 2
15-58830650-G-C c.207G>C p.P69= Synonymous 2/9 - 1
15-58830650-G-T c.207G>T p.P69= Synonymous 2/9 - 1
15-58830651-G-T c.208G>T p.D70Y Missense 2/9 - 1
15-58830652-A-G c.209A>G p.D70G Missense 2/9 - 1
15-58830655-CG-TC c.212_213delinsTC p.T71I Missense 2/9 - 3
15-58830655-C-T c.212C>T p.T71M Missense 2/9 - 1
15-58830656-G-A c.213G>A p.T71= Synonymous 2/9 - 4
15-58830659-A-G c.216A>G p.L72= Synonymous 2/9 - 1
15-58830662-G-A c.219G>A p.Q73= Synonymous 2/9 - 2
15-58830662-G-C c.219G>C p.Q73H Missense 2/9 - 2
15-58830662-G-T c.219G>T p.Q73H Missense 2/9 - 3
15-58830668-C-T c.225C>T p.C75= Synonymous 2/9 - 2
15-58830669-G-A c.226G>A p.G76S Missense 2/9 - 3
15-58830669-G-T c.226G>T p.G76C Missense 2/9 - 1
15-58830670-G-A c.227G>A p.G76D Missense 2/9 - 1
15-58830670-G-C c.227G>C p.G76A Missense 2/9 - 1
15-58830672-T-C c.229T>C p.F77L Missense 2/9 - 1
15-58830674-C-A c.231C>A p.F77L Missense 2/9 - 1
15-58830674-C-G c.231C>G p.F77L Missense 2/9 - 1
15-58830678-T-A c.235T>A p.S79T Missense 2/9 - 1
15-58830681-T-C c.238T>C p.S80P Missense 2/9 - 1
15-58830682-C-T c.239C>T p.S80F Missense 2/9 - 2
15-58830683-C-A c.240C>A p.S80= Synonymous 2/9 - 1
15-58830683-C-G c.240C>G p.S80= Synonymous 2/9 - 1
15-58830683-C-T c.240C>T p.S80= Synonymous 2/9 - 1
15-58830681-T-TC c.241dup p.L81Pfs*121 Frameshift 2/9 - 1
15-58830684-C-A c.241C>A p.L81M Missense 2/9 - 4
15-58830693-G-C c.250G>C p.V84L Missense 2/9 - 2
15-58830693-GTG-ATC c.250_252delinsATC p.V84I Missense 2/9 - 1
15-58830694-T-C c.251T>C p.V84A Missense 2/9 - 1
15-58830698-G-A c.255G>A p.M85I Missense 2/9 - 1
15-58830699-A-C c.256A>C p.I86L Missense 2/9 - 1
15-58830699-A-T c.256A>T p.I86L Missense 2/9 - 1
15-58830706-A-G c.263A>G p.H88R Missense 2/9 - 1
15-58830707-C-A c.264C>A p.H88Q Missense 2/9 - 1
15-58830707-C-G c.264C>G p.H88Q Missense 2/9 - 1
15-58830707-C-T c.264C>T p.H88= Synonymous 2/9 - 5
15-58830708-G-A c.265G>A p.G89R Missense 2/9 - 2
15-58830708-G-C c.265G>C p.G89R Missense 2/9 - 1
15-58830709-G-A c.266G>A p.G89E Missense 2/9 - 1
15-58830712-G-A c.269G>A p.W90* Nonsense 2/9 - 1
15-58830715-C-T c.272C>T p.S91L Missense 2/9 - 1
15-58830716-G-A c.273G>A p.S91= Synonymous 2/9 - 1
15-58830732-A-G c.273+16A>G - IntronicSNV - 2/8 1
15-58830775-T-C c.273+59T>C - IntronicSNV - 2/8 1
15-58830786-T-C c.273+70T>C - IntronicSNV - 2/8 1
15-58830846-G-A c.273+130G>A - IntronicSNV - 2/8 1
15-58830939-T-G c.273+223T>G - IntronicSNV - 2/8 1
15-58830966-C-T c.273+250C>T - IntronicSNV - 2/8 1
15-58833633-T-G c.274-351T>G - IntronicSNV - 2/8 1
15-58833703-G-A c.274-281G>A - IntronicSNV - 2/8 2
15-58833703-G-C c.274-281G>C - IntronicSNV - 2/8 2
15-58833742-T-C c.274-242T>C - IntronicSNV - 2/8 1
15-58833786-A-G c.274-198A>G - IntronicSNV - 2/8 1
15-58833938-G-A c.274-46G>A - IntronicSNV - 2/8 5
15-58833989-C-T c.279C>T p.D93= Synonymous 3/9 - 2
15-58833990-G-A c.280G>A p.G94S Missense 3/9 - 3
15-58833990-G-T c.280G>T p.G94C Missense 3/9 - 1
15-58833991-G-A c.281G>A p.G94D Missense 3/9 - 1
15-58833992-C-A c.282C>A p.G94= Synonymous 3/9 - 1
15-58833992-C-G c.282C>G p.G94= Synonymous 3/9 - 1
15-58833992-C-T c.282C>T p.G94= Synonymous 3/9 - 2
15-58833993-G-A c.283G>A p.V95M Missense 3/9 - 36
15-58833993-G-T c.283G>T p.V95L Missense 3/9 - 13
15-58833999-G-A c.289G>A p.E97K Missense 3/9 - 1
15-58834000-A-G c.290A>G p.E97G Missense 3/9 - 1
15-58834005-T-TTC c.295_296insTC p.W99Ffs*10 Frameshift 3/9 - 1
15-58834015-AGATGGTGGCCGCGCT-A c.308_322del p.M103_L107del InFrameDeletion 3/9 - 1
15-58834020-G-A c.310G>A p.V104M Missense 3/9 - 1
15-58834023-G-A c.313G>A p.A105T Missense 3/9 - 1
15-58834024-C-T c.314C>T p.A105V Missense 3/9 - 3
15-58834025-C-G c.315C>G p.A105= Synonymous 3/9 - 2
15-58834026-G-A c.316G>A p.A106T Missense 3/9 - 3
15-58834027-C-T c.317C>T p.A106V Missense 3/9 - 5
15-58834036-C-T c.326C>T p.S109F Missense 3/9 - 1
15-58834038-C-T c.328C>T p.Q110* Nonsense 3/9 - 1
15-58834041-C-T c.331C>T p.P111S Missense 3/9 - 1
15-58834042-C-T c.332C>T p.P111L Missense 3/9 - 1
15-58834044-G-A c.334G>A p.A112T Missense 3/9 - 2
15-58834049-G-A c.339G>A p.Q113= Synonymous 3/9 - 1
15-58834050-C-A c.340C>A p.P114T Missense 3/9 - 1
15-58834051-C-T c.341C>T p.P114L Missense 3/9 - 1
15-58834054-T-C c.344T>C p.V115A Missense 3/9 - 3
15-58834058-C-A c.348C>A p.N116K Missense 3/9 - 1
15-58834058-C-G c.348C>G p.N116K Missense 3/9 - 1
15-58834059-G-A c.349G>A p.V117M Missense 3/9 - 1
15-58834068-G-A c.358G>A p.V120M Missense 3/9 - 1
15-58834071-G-A c.361G>A p.D121N Missense 3/9 - 2
15-58834071-G-C c.361G>C p.D121H Missense 3/9 - 1
15-58834075-G-A c.365G>A p.W122* Nonsense 3/9 - 2
15-58834076-G-A c.366G>A p.W122* Nonsense 3/9 - 1
15-58834077-A-C c.367A>C p.I123L Missense 3/9 - 1
15-58834080-A-C c.370A>C p.T124P Missense 3/9 - 1
15-58834083-C-G c.373C>G p.L125V Missense 3/9 - 1
15-58834086-G-C c.376G>C p.A126P Missense 3/9 - 1
15-58834086-G-T c.376G>T p.A126S Missense 3/9 - 1
15-58834087-C-A c.377C>A p.A126D Missense 3/9 - 1
15-58834089-C-T c.379C>T p.H127Y Missense 3/9 - 1
15-58834091-C-T c.381C>T p.H127= Synonymous 3/9 - 1
15-58834092-G-A c.382G>A p.D128N Missense 3/9 - 4
15-58834094-C-T c.384C>T p.D128= Synonymous 3/9 - 2
15-58834104-A-C c.394A>C p.I132L Missense 3/9 - 1
15-58834106-C-A c.396C>A p.I132= Synonymous 3/9 - 1
15-58834106-C-T c.396C>T p.I132= Synonymous 3/9 - 4
15-58834109-C-T c.399C>T p.A133= Synonymous 3/9 - 2
15-58834110-G-A c.400G>A p.V134I Missense 3/9 - 2
15-58834111-T-C c.401T>C p.V134A Missense 3/9 - 1
15-58834113-C-T c.403C>T p.R135C Missense 3/9 - 4
15-58834120-C-T c.410C>T p.T137I Missense 3/9 - 3
15-58834122-CGC-ATG c.412_414delinsATG p.R138M Missense 3/9 - 1
15-58834122-C-T c.412C>T p.R138C Missense 3/9 - 4
15-58834123-G-A c.413G>A p.R138H Missense 3/9 - 2
15-58834126-T-C c.416T>C p.L139P Missense 3/9 - 1
15-58834129-T-C c.419T>C p.V140A Missense 3/9 - 1
15-58834131-G-A c.421G>A p.G141S Missense 3/9 - 4
15-58834140-G-T c.430G>T p.V144F Missense 3/9 - 1
15-58834141-T-C c.431T>C p.V144A Missense 3/9 - 1
15-58834142-C-A c.432C>A p.V144= Synonymous 3/9 - 1
15-58834142-C-G c.432C>G p.V144= Synonymous 3/9 - 1
15-58834142-C-T c.432C>T p.V144= Synonymous 3/9 - 3
15-58834143-G-A c.433G>A p.A145T Missense 3/9 - 3
15-58834144-C-T c.434C>T p.A145V Missense 3/9 - 1
15-58834155-CGG-AGC c.445_447delinsAGC p.R149S Missense 3/9 - 1
15-58834155-C-T c.445C>T p.R149W Missense 3/9 - 6
15-58834156-G-A c.446G>A p.R149Q Missense 3/9 - 1
15-58834162-T-C c.452T>C p.L151P Missense 3/9 - 1
15-58834168-T-C c.456+2T>C - IntronicSNV - 3/8 1
15-58834172-G-A c.456+6G>A - IntronicSNV - 3/8 1
15-58834188-C-T c.456+22C>T - IntronicSNV - 3/8 1
15-58834242-G-C c.456+76G>C - IntronicSNV - 3/8 1
15-58834262-CAGG-C c.456+99_456+101del - IntronicDeletion - 3/8 1
15-58834315-C-T c.456+149C>T - IntronicSNV - 3/8 1
15-58834338-C-T c.456+172C>T - IntronicSNV - 3/8 1
15-58834339-G-A c.456+173G>A - IntronicSNV - 3/8 1
15-58834354-CCT-C c.456+188_456+189del - IntronicDeletion - 3/8 1
15-58834375-T-C c.456+209T>C - IntronicSNV - 3/8 5
15-58834391-A-G c.456+225A>G - IntronicSNV - 3/8 3
15-58834405-G-T c.456+239G>T - IntronicSNV - 3/8 1
15-58834539-A-C c.457-194A>C - IntronicSNV - 3/8 2
15-58834539-A-G c.457-194A>G - IntronicSNV - 3/8 2
15-58834733-G-T c.457G>T p.E153* Nonsense 4/9 - 2
15-58834737-C-A c.461C>A p.S154Y Missense 4/9 - 2
15-58834741-G-A c.465G>A p.V155= Synonymous 4/9 - 33
15-58834741-G-C c.465G>C p.V155= Synonymous 4/9 - 1
15-58834741-G-T c.465G>T p.V155= Synonymous 4/9 - 36
15-58834742-C-A c.466C>A p.Q156K Missense 4/9 - 1
15-58834746-T-A c.470T>A p.L157H Missense 4/9 - 1
15-58834751-C-T c.475C>T p.R159* Nonsense 4/9 - 4
15-58834752-G-A c.476G>A p.R159Q Missense 4/9 - 6
15-58834755-G-A c.479G>A p.S160N Missense 4/9 - 1
15-58834756-C-T c.480C>T p.S160= Synonymous 4/9 - 1
15-58834758-A-G c.482A>G p.H161R Missense 4/9 - 1
15-58834759-T-G c.483T>G p.H161Q Missense 4/9 - 1
15-58834766-C-T c.490C>T p.L164= Synonymous 4/9 - 1
15-58834769-A-G c.493A>G p.I165V Missense 4/9 - 1
15-58834770-T-C c.494T>C p.I165T Missense 4/9 - 1
15-58834770-T-G c.494T>G p.I165S Missense 4/9 - 1
15-58834772-G-T c.496G>T p.G166W Missense 4/9 - 1
15-58834774-G-A c.498G>A p.G166= Synonymous 4/9 - 2
15-58834774-G-C c.498G>C p.G166= Synonymous 4/9 - 1
15-58834774-G-T c.498G>T p.G166= Synonymous 4/9 - 3
15-58834775-T-C c.499T>C p.Y167H Missense 4/9 - 1
15-58834778-A-G c.502A>G p.S168G Missense 4/9 - 1
15-58834779-G-A c.503G>A p.S168N Missense 4/9 - 2
15-58834780-C-T c.504C>T p.S168= Synonymous 4/9 - 1
15-58834784-G-A c.508G>A p.G170S Missense 4/9 - 2
15-58834784-G-C c.508G>C p.G170R Missense 4/9 - 1
15-58834784-G-T c.508G>T p.G170C Missense 4/9 - 3
15-58834785-G-A c.509G>A p.G170D Missense 4/9 - 1
15-58834785-G-T c.509G>T p.G170V Missense 4/9 - 1
15-58834788-C-T c.512C>T p.A171V Missense 4/9 - 1
15-58834790-C-T c.514C>T p.H172Y Missense 4/9 - 1
15-58834792-C-T c.516C>T p.H172= Synonymous 4/9 - 3
15-58834793-G-A c.517G>A p.V173M Missense 4/9 - 3
15-58834800-G-T c.524G>T p.G175V Missense 4/9 - 1
15-58834801-A-C c.525A>C p.G175= Synonymous 4/9 - 1
15-58834801-A-G c.525A>G p.G175= Synonymous 4/9 - 2
15-58834801-A-T c.525A>T p.G175= Synonymous 4/9 - 1
15-58834802-T-C c.526T>C p.F176L Missense 4/9 - 1
15-58834804-T-A c.528T>A p.F176L Missense 4/9 - 1
15-58834804-T-G c.528T>G p.F176L Missense 4/9 - 1
15-58834806-C-T c.530C>T p.A177V Missense 4/9 - 2
15-58834805-GC-G c.531del p.G178Afs*53 Frameshift 4/9 - 1
15-58834807-C-A c.531C>A p.A177= Synonymous 4/9 - 1
15-58834807-C-G c.531C>G p.A177= Synonymous 4/9 - 1
15-58834807-C-T c.531C>T p.A177= Synonymous 4/9 - 2
15-58834808-G-A c.532G>A p.G178S Missense 4/9 - 8
15-58834811-A-G c.535A>G p.S179G Missense 4/9 - 1
15-58834814-TC-CT c.538_539delinsCT p.S180L Missense 4/9 - 1
15-58834817-A-C c.541A>C p.I181L Missense 4/9 - 1
15-58834817-A-G c.541A>G p.I181V Missense 4/9 - 1
15-58834817-CA-C c.541del p.I181Sfs*50 Frameshift 4/9 - 1
15-58834819-C-T c.543C>T p.I181= Synonymous 4/9 - 3
15-58834821-G-A c.545G>A p.G182D Missense 4/9 - 2
15-58834821-G-C c.545G>C p.G182A Missense 4/9 - 1
15-58834827-C-T c.551C>T p.T184M Missense 4/9 - 5
15-58834828-G-A c.552G>A p.T184= Synonymous 4/9 - 2
15-58834828-G-C c.552G>C p.T184= Synonymous 4/9 - 1
15-58834828-G-T c.552G>T p.T184= Synonymous 4/9 - 1
15-58834830-A-T c.554A>T p.H185L Missense 4/9 - 3
15-58834839-G-A c.563G>A p.G188E Missense 4/9 - 2
15-58834839-G-T c.563G>T p.G188V Missense 4/9 - 1
15-58834840-G-A c.564G>A p.G188= Synonymous 4/9 - 1
15-58834840-G-C c.564G>C p.G188= Synonymous 4/9 - 1
15-58834842-G-A c.566G>A p.R189K Missense 4/9 - 3
15-58834841-AGAATCACAG-A c.567_574+1del - SpliceDonorDeletion 4/9 4/8 1
15-58834844-A-G c.568A>G p.I190V Missense 4/9 - 2
15-58834875-A-G c.574+25A>G - IntronicSNV - 4/8 1
15-58834891-T-C c.574+41T>C - IntronicSNV - 4/8 1
15-58834929-C-T c.574+79C>T - IntronicSNV - 4/8 2
15-58834989-C-T c.574+139C>T - IntronicSNV - 4/8 1
15-58835003-T-C c.574+153T>C - IntronicSNV - 4/8 1
15-58835097-TG-T c.574+247del - IntronicDeletion - 4/8 1
15-58835317-C-A c.574+467C>A - IntronicSNV - 4/8 1
15-58835317-C-T c.574+467C>T - IntronicSNV - 4/8 1
15-58836308-C-G c.574+1458C>G - IntronicSNV - 4/8 2
15-58836308-C-T c.574+1458C>T - IntronicSNV - 4/8 2
15-58836938-G-A c.575-1003G>A - IntronicSNV - 4/8 2
15-58837089-A-G c.575-852A>G - IntronicSNV - 4/8 1
15-58837394-C-T c.575-547C>T - IntronicSNV - 4/8 2
15-58837605-C-T c.575-336C>T - IntronicSNV - 4/8 1
15-58837722-G-A c.575-219G>A - IntronicSNV - 4/8 2
15-58837764-A-G c.575-177A>G - IntronicSNV - 4/8 4
15-58837910-T-C c.575-31T>C - IntronicSNV - 4/8 9
15-58837933-C-A c.575-8C>A - IntronicSNV - 4/8 6
15-58837949-G-A c.583G>A p.A195T Missense 5/9 - 2
15-58837950-C-T c.584C>T p.A195V Missense 5/9 - 1
15-58837951-C-A c.585C>A p.A195= Synonymous 5/9 - 2
15-58837951-C-G c.585C>G p.A195= Synonymous 5/9 - 2
15-58837951-C-T c.585C>T p.A195= Synonymous 5/9 - 4
15-58837952-G-A c.586G>A p.A196T Missense 5/9 - 1
15-58837953-C-T c.587C>T p.A196V Missense 5/9 - 2
15-58837954-G-A c.588G>A p.A196= Synonymous 5/9 - 3
15-58837954-G-C c.588G>C p.A196= Synonymous 5/9 - 1
15-58837954-G-T c.588G>T p.A196= Synonymous 5/9 - 2
15-58837955-G-A c.589G>A p.G197R Missense 5/9 - 1
15-58837955-G-T c.589G>T p.G197* Nonsense 5/9 - 1
15-58837957-A-C c.591A>C p.G197= Synonymous 5/9 - 2
15-58837957-A-G c.591A>G p.G197= Synonymous 5/9 - 21
15-58837957-A-T c.591A>T p.G197= Synonymous 5/9 - 19
15-58837958-C-T c.592C>T p.P198S Missense 5/9 - 2
15-58837961-T-A c.595T>A p.L199M Missense 5/9 - 1
15-58837964-T-A c.598T>A p.F200I Missense 5/9 - 1
15-58837969-G-T c.603G>T p.E201D Missense 5/9 - 1
15-58837971-G-A c.605G>A p.G202E Missense 5/9 - 4
15-58837981-C-A c.615C>A p.P205= Synonymous 5/9 - 1
15-58837981-C-G c.615C>G p.P205= Synonymous 5/9 - 1
15-58837981-C-T c.615C>T p.P205= Synonymous 5/9 - 1
15-58837985-A-T c.619A>T p.N207Y Missense 5/9 - 1
15-58837986-A-G c.620A>G p.N207S Missense 5/9 - 1
15-58837988-C-A c.622C>A p.R208S Missense 5/9 - 2
15-58837988-C-T c.622C>T p.R208C Missense 5/9 - 3
15-58837989-G-A c.623G>A p.R208H Missense 5/9 - 7
15-58837994-T-A c.628T>A p.S210T Missense 5/9 - 2
15-58838000-G-C c.634G>C p.D212H Missense 5/9 - 3
15-58838003-G-T c.637G>T p.D213Y Missense 5/9 - 2
15-58838007-C-T c.641C>T p.A214V Missense 5/9 - 2
15-58838009-A-G c.643A>G p.N215D Missense 5/9 - 1
15-58838010-A-C c.644A>C p.N215T Missense 5/9 - 25
15-58838010-A-G c.644A>G p.N215S Missense 5/9 - 62
15-58838011-T-C c.645T>C p.N215= Synonymous 5/9 - 1
15-58838019-A-G c.653A>G p.D218G Missense 5/9 - 1
15-58838022-C-T c.656C>T p.A219V Missense 5/9 - 1
15-58838024-A-G c.658A>G p.I220V Missense 5/9 - 1
15-58838027-C-T c.661C>T p.H221Y Missense 5/9 - 2
15-58838028-A-G c.662A>G p.H221R Missense 5/9 - 1
15-58838031-CC-AG c.665_666delinsAG p.T222K Missense 5/9 - 1
15-58838037-C-T c.671C>T p.T224I Missense 5/9 - 1
15-58838038-C-A c.672C>A p.T224= Synonymous 5/9 - 24
15-58838038-C-G c.672C>G p.T224= Synonymous 5/9 - 29
15-58838038-C-T c.672C>T p.T224= Synonymous 5/9 - 2
15-58838039-C-T c.673C>T p.R225W Missense 5/9 - 2
15-58838040-G-A c.674G>A p.R225Q Missense 5/9 - 1
15-58838040-G-T c.674G>T p.R225L Missense 5/9 - 1
15-58838046-A-G c.680A>G p.H227R Missense 5/9 - 3
15-58838046-A-T c.680A>T p.H227L Missense 5/9 - 1
15-58838048-A-G c.682A>G p.M228V Missense 5/9 - 1
15-58838051-G-A c.685G>A p.G229S Missense 5/9 - 2
15-58838059-C-T c.693C>T p.S231= Synonymous 5/9 - 4
15-58838060-G-A c.694G>A p.V232M Missense 5/9 - 2
15-58838060-G-C c.694G>C p.V232L Missense 5/9 - 3
15-58838060-G-T c.694G>T p.V232L Missense 5/9 - 3
15-58838066-A-G c.700A>G p.I234V Missense 5/9 - 1
15-58838067-T-C c.701T>C p.I234T Missense 5/9 - 2
15-58838068-C-A c.702C>A p.I234= Synonymous 5/9 - 1
15-58838074-G-C c.708G>C p.Q236H Missense 5/9 - 1
15-58838075-C-T c.709C>T p.P237S Missense 5/9 - 1
15-58838076-C-A c.710C>A p.P237H Missense 5/9 - 2
15-58838079-T-C c.713T>C p.I238T Missense 5/9 - 3
15-58838081-G-A c.715G>A p.G239R Missense 5/9 - 3
15-58838081-G-C c.715G>C p.G239R Missense 5/9 - 1
15-58838084-C-T c.718C>T p.H240Y Missense 5/9 - 1
15-58838086-C-T c.720C>T p.H240= Synonymous 5/9 - 1
15-58838088-A-T c.722A>T p.Y241F Missense 5/9 - 1
15-58838092-C-G c.726C>G p.D242E Missense 5/9 - 1
15-58838096-T-C c.730T>C p.Y244H Missense 5/9 - 1
15-58838097-A-G c.731A>G p.Y244C Missense 5/9 - 2
15-58838099-C-T c.733C>T p.P245S Missense 5/9 - 4
15-58838103-A-ACG c.738_739dup p.G247Afs*12 Frameshift 5/9 - 3
15-58838104-C-T c.738C>T p.N246= Synonymous 5/9 - 2
15-58838105-G-A c.739G>A p.G247R Missense 5/9 - 6
15-58838105-G-C c.739G>C p.G247R Missense 5/9 - 1
15-58838106-G-A c.740G>A p.G247E Missense 5/9 - 3
15-58838113-C-T c.747C>T p.S249= Synonymous 5/9 - 2
15-58838114-T-C c.748T>C p.F250L Missense 5/9 - 1
15-58838116-C-T c.750C>T p.F250= Synonymous 5/9 - 1
15-58838121-C-T c.755C>T p.P252L Missense 5/9 - 1
15-58838123-G-A c.757G>A p.G253S Missense 5/9 - 1
15-58838123-G-T c.757G>T p.G253C Missense 5/9 - 1
15-58838124-G-A c.758G>A p.G253D Missense 5/9 - 1
15-58838127-G-A c.761G>A p.C254Y Missense 5/9 - 1
15-58838131-C-T c.765C>T p.H255= Synonymous 5/9 - 1
15-58838135-CTA-TTT c.769_771delinsTTT p.L257F Missense 5/9 - 1
15-58838138-G-C c.772G>C p.E258Q Missense 5/9 - 1
15-58838141-C-T c.775C>T p.L259F Missense 5/9 - 1
15-58838142-T-C c.776T>C p.L259P Missense 5/9 - 1
15-58838144-T-C c.778T>C p.Y260H Missense 5/9 - 1
15-58838145-A-T c.779A>T p.Y260F Missense 5/9 - 1
15-58838147-A-T c.781A>T p.R261* Nonsense 5/9 - 1
15-58838152-T-C c.786T>C p.H262= Synonymous 5/9 - 1
15-58838153-A-G c.787A>G p.I263V Missense 5/9 - 2
15-58838155-T-C c.789T>C p.I263= Synonymous 5/9 - 1
15-58838156-G-A c.790G>A p.A264T Missense 5/9 - 1
15-58838157-C-T c.791C>T p.A264V Missense 5/9 - 3
15-58838159-C-T c.793C>T p.Q265* Nonsense 5/9 - 2
15-58838160-A-G c.794A>G p.Q265R Missense 5/9 - 1
15-58838164-C-T c.798C>T p.H266= Synonymous 5/9 - 4
15-58838165-G-A c.799G>A p.G267S Missense 5/9 - 1
15-58838165-G-T c.799G>T p.G267C Missense 5/9 - 1
15-58838174-G-A c.808G>A p.A270T Missense 5/9 - 1
15-58838178-A-G c.808+4A>G - IntronicSNV - 5/8 1
15-58838200-G-A c.808+26G>A - IntronicSNV - 5/8 1
15-58838204-C-T c.808+30C>T - IntronicSNV - 5/8 1
15-58838239-G-A c.808+65G>A - IntronicSNV - 5/8 1
15-58838247-C-G c.808+73C>G - IntronicSNV - 5/8 1
15-58838255-C-T c.808+81C>T - IntronicSNV - 5/8 1
15-58838334-G-A c.808+160G>A - IntronicSNV - 5/8 1
15-58838374-G-T c.808+200G>T - IntronicSNV - 5/8 1
15-58838393-G-A c.808+219G>A - IntronicSNV - 5/8 1
15-58838408-A-C c.808+234A>C - IntronicSNV - 5/8 1
15-58838428-T-C c.808+254T>C - IntronicSNV - 5/8 1
15-58838440-T-C c.808+266T>C - IntronicSNV - 5/8 2
15-58839272-T-G c.808+1098T>G - IntronicSNV - 5/8 1
15-58839298-C-T c.808+1124C>T - IntronicSNV - 5/8 1
15-58839337-G-A c.808+1163G>A - IntronicSNV - 5/8 2
15-58839345-A-C c.808+1171A>C - IntronicSNV - 5/8 1
15-58839879-C-CTTGTT c.809-646_809-642dup - IntronicInsertion - 5/8 1
15-58840039-A-G c.809-490A>G - IntronicSNV - 5/8 2
15-58840099-G-A c.809-430G>A - IntronicSNV - 5/8 1
15-58840450-A-C c.809-79A>C - IntronicSNV - 5/8 6
15-58840531-A-G c.811A>G p.I271V Missense 6/9 - 1
15-58840535-C-T c.815C>T p.T272I Missense 6/9 - 2
15-58840537-C-A c.817C>A p.Q273K Missense 6/9 - 2
15-58840549-T-C c.829T>C p.C277R Missense 6/9 - 2
15-58840549-T-G c.829T>G p.C277G Missense 6/9 - 1
15-58840551-C-A c.831C>A p.C277* Nonsense 6/9 - 2
15-58840557-C-T c.837C>T p.H279= Synonymous 6/9 - 5
15-58840560-G-A c.840G>A p.E280= Synonymous 6/9 - 1
15-58840561-C-T c.841C>T p.R281* Nonsense 6/9 - 2
15-58840562-G-A c.842G>A p.R281Q Missense 6/9 - 6
15-58840562-G-C c.842G>C p.R281P Missense 6/9 - 2
15-58840564-TC-GG c.844_845delinsGG p.S282G Missense 6/9 - 1
15-58840565-C-A c.845C>A p.S282* Nonsense 6/9 - 1
15-58840565-C-T c.845C>T p.S282L Missense 6/9 - 5
15-58840566-G-A c.846G>A p.S282= Synonymous 6/9 - 4
15-58840566-G-C c.846G>C p.S282= Synonymous 6/9 - 2
15-58840566-G-T c.846G>T p.S282= Synonymous 6/9 - 3
15-58840567-G-A c.847G>A p.V283M Missense 6/9 - 5
15-58840569-G-C c.849G>C p.V283= Synonymous 6/9 - 1
15-58840576-T-C c.856T>C p.F286L Missense 6/9 - 1
15-58840578-C-A c.858C>A p.F286L Missense 6/9 - 1
15-58840578-C-G c.858C>G p.F286L Missense 6/9 - 1
15-58840581-C-A c.861C>A p.I287= Synonymous 6/9 - 1
15-58840581-C-T c.861C>T p.I287= Synonymous 6/9 - 1
15-58840582-G-A c.862G>A p.D288N Missense 6/9 - 3
15-58840584-C-T c.864C>T p.D288= Synonymous 6/9 - 1
15-58840586-C-T c.866C>T p.S289F Missense 6/9 - 17
15-58840587-C-T c.867C>T p.S289= Synonymous 6/9 - 2
15-58840594-C-T c.874C>T p.H292Y Missense 6/9 - 1
15-58840598-C-T c.878C>T p.A293V Missense 6/9 - 3
15-58840604-C-T c.884C>T p.T295M Missense 6/9 - 1
15-58840605-G-A c.885G>A p.T295= Synonymous 6/9 - 2
15-58840605-G-C c.885G>C p.T295= Synonymous 6/9 - 2
15-58840605-G-T c.885G>T p.T295= Synonymous 6/9 - 2
15-58840607-A-G c.887A>G p.Q296R Missense 6/9 - 1
15-58840613-T-G c.893T>G p.M298R Missense 6/9 - 1
15-58840615-G-A c.895G>A p.A299T Missense 6/9 - 2
15-58840621-C-T c.901C>T p.P301S Missense 6/9 - 3
15-58840622-C-A c.902C>A p.P301Q Missense 6/9 - 2
15-58840622-C-T c.902C>T p.P301L Missense 6/9 - 1
15-58840623-G-A c.903G>A p.P301= Synonymous 6/9 - 3
15-58840624-T-G c.904T>G p.C302G Missense 6/9 - 1
15-58840626-T-G c.906T>G p.C302W Missense 6/9 - 1
15-58840628-G-A c.908G>A p.G303D Missense 6/9 - 1
15-58840628-G-T c.908G>T p.G303V Missense 6/9 - 1
15-58840632-C-T c.912C>T p.D304= Synonymous 6/9 - 1
15-58840634-T-G c.914T>G p.M305R Missense 6/9 - 1
15-58840647-C-T c.927C>T p.S309= Synonymous 6/9 - 1
15-58840648-C-A c.928C>A p.Q310K Missense 6/9 - 1
15-58840649-A-G c.929A>G p.Q310R Missense 6/9 - 1
15-58840657-T-C c.937T>C p.C313R Missense 6/9 - 1
15-58840664-G-A c.944G>A p.S315N Missense 6/9 - 2
15-58840667-G-T c.947G>T p.C316F Missense 6/9 - 1
15-58840669-A-G c.949A>G p.K317E Missense 6/9 - 1
15-58840674-G-A c.954G>A p.K318= Synonymous 6/9 - 2
15-58840675-G-A c.955G>A p.G319S Missense 6/9 - 1
15-58840677-C-T c.957C>T p.G319= Synonymous 6/9 - 1
15-58840678-C-A c.958C>A p.R320S Missense 6/9 - 1
15-58840678-C-T c.958C>T p.R320C Missense 6/9 - 1
15-58840679-G-T c.959G>T p.R320L Missense 6/9 - 2
15-58840680-C-A c.960C>A p.R320= Synonymous 6/9 - 1
15-58840688-C-T c.968C>T p.T323M Missense 6/9 - 5
15-58840690-C-A c.970C>A p.L324M Missense 6/9 - 1
15-58840701-C-T c.981C>T p.H327= Synonymous 6/9 - 4
15-58840702-G-A c.982G>A p.V328I Missense 6/9 - 5
15-58840705-CGC-TGA c.985_987delinsTGA p.R329* Nonsense 6/9 - 1
15-58840705-C-T c.985C>T p.R329C Missense 6/9 - 2
15-58840706-G-A c.986G>A p.R329H Missense 6/9 - 6
15-58840714-C-T c.994C>T p.P332S Missense 6/9 - 1
15-58840717-C-A c.997C>A p.R333= Synonymous 6/9 - 1
15-58840717-C-T c.997C>T p.R333W Missense 6/9 - 1
15-58840718-G-A c.998G>A p.R333Q Missense 6/9 - 5
15-58840721-G-A c.1001G>A p.S334N Missense 6/9 - 1
15-58840724-A-G c.1004A>G p.K335R Missense 6/9 - 3
15-58840740-C-T c.1020C>T p.F340= Synonymous 6/9 - 1
15-58840743-C-T c.1023C>T p.L341= Synonymous 6/9 - 1
15-58840744-G-A c.1024G>A p.V342I Missense 6/9 - 3
15-58840744-G-C c.1024G>C p.V342L Missense 6/9 - 1
15-58840749-G-A c.1029G>A p.T343= Synonymous 6/9 - 5
15-58840750-C-T c.1030C>T p.R344* Nonsense 6/9 - 1
15-58840751-G-A c.1031G>A p.R344Q Missense 6/9 - 6
15-58840771-G-A c.1051G>A p.V351I Missense 6/9 - 2
15-58840773-T-A c.1051+2T>A - IntronicSNV - 6/8 1
15-58840807-G-T c.1051+36G>T - IntronicSNV - 6/8 1
15-58840849-T-C c.1051+78T>C - IntronicSNV - 6/8 1
15-58840882-G-C c.1051+111G>C - IntronicSNV - 6/8 4
15-58840922-A-T c.1051+151A>T - IntronicSNV - 6/8 2
15-58840926-A-C c.1051+155A>C - IntronicSNV - 6/8 1
15-58840930-T-C c.1051+159T>C - IntronicSNV - 6/8 1
15-58840962-C-T c.1051+191C>T - IntronicSNV - 6/8 1
15-58840972-T-G c.1051+201T>G - IntronicSNV - 6/8 1
15-58840978-G-A c.1051+207G>A - IntronicSNV - 6/8 1
15-58840990-C-T c.1051+219C>T - IntronicSNV - 6/8 1
15-58841736-C-G c.1051+965C>G - IntronicSNV - 6/8 1
15-58842883-A-C c.1051+2112A>C - IntronicSNV - 6/8 1
15-58842883-A-G c.1051+2112A>G - IntronicSNV - 6/8 1
15-58843129-G-C c.1051+2358G>C - IntronicSNV - 6/8 1
15-58844214-C-T c.1051+3443C>T - IntronicSNV - 6/8 1
15-58846150-G-T c.1051+5379G>T - IntronicSNV - 6/8 1
15-58847263-T-C c.1052-5800T>C - IntronicSNV - 6/8 1
15-58847372-C-G c.1052-5691C>G - IntronicSNV - 6/8 1
15-58849387-C-A c.1052-3676C>A - IntronicSNV - 6/8 1
15-58849387-C-T c.1052-3676C>T - IntronicSNV - 6/8 1
15-58849875-C-T c.1052-3188C>T - IntronicSNV - 6/8 1
15-58852914-C-A c.1052-149C>A - IntronicSNV - 6/8 2
15-58852914-C-G c.1052-149C>G - IntronicSNV - 6/8 2
15-58852914-C-T c.1052-149C>T - IntronicSNV - 6/8 2
15-58852922-A-C c.1052-141A>C - IntronicSNV - 6/8 3
15-58852922-A-T c.1052-141A>T - IntronicSNV - 6/8 3
15-58853075-A-G c.1064A>G p.Q355R Missense 7/9 - 5
15-58853077-T-C c.1066T>C p.F356L Missense 7/9 - 6
15-58853079-C-G c.1068C>G p.F356L Missense 7/9 - 6
15-58853079-C-A c.1068C>A p.F356L Missense 7/9 - 55
15-58853079-C-T c.1068C>T p.F356= Synonymous 7/9 - 14
15-58853081-A-C c.1070A>C p.K357T Missense 7/9 - 1
15-58853089-T-C c.1078T>C p.F360L Missense 7/9 - 1
15-58853089-T-G c.1078T>G p.F360V Missense 7/9 - 1
15-58853091-C-A c.1080C>A p.F360L Missense 7/9 - 1
15-58853091-C-G c.1080C>G p.F360L Missense 7/9 - 1
15-58853094-C-G c.1083C>G p.I361M Missense 7/9 - 1
15-58853096-A-G c.1085A>G p.N362S Missense 7/9 - 1
15-58853097-C-A c.1086C>A p.N362K Missense 7/9 - 1
15-58853097-C-T c.1086C>T p.N362= Synonymous 7/9 - 1
15-58853098-C-A c.1087C>A p.Q363K Missense 7/9 - 1
15-58853100-A-T c.1089A>T p.Q363H Missense 7/9 - 1
15-58853108-C-A c.1097C>A p.T366K Missense 7/9 - 2
15-58853108-C-G c.1097C>G p.T366R Missense 7/9 - 1
15-58853109-A-C c.1098A>C p.T366= Synonymous 7/9 - 29
15-58853109-A-G c.1098A>G p.T366= Synonymous 7/9 - 30
15-58853109-A-T c.1098A>T p.T366= Synonymous 7/9 - 21
15-58853111-C-T c.1100C>T p.P367L Missense 7/9 - 1
15-58853114-T-A c.1103T>A p.I368K Missense 7/9 - 1
15-58853120-C-A c.1109C>A p.T370K Missense 7/9 - 1
15-58853123-CT-GG c.1112_1113delinsGG p.T371R Missense 7/9 - 1
15-58853134-T-A c.1123T>A p.S375T Missense 7/9 - 1
15-58853135-C-T c.1124C>T p.S375L Missense 7/9 - 1
15-58853140-C-T c.1129C>T p.L377F Missense 7/9 - 1
15-58853142-C-A c.1131C>A p.L377= Synonymous 7/9 - 1
15-58853142-C-G c.1131C>G p.L377= Synonymous 7/9 - 1
15-58853142-C-T c.1131C>T p.L377= Synonymous 7/9 - 1
15-58853143-G-A c.1132G>A p.G378R Missense 7/9 - 3
15-58853143-GGA-TGT c.1132_1134delinsTGT p.G378C Missense 7/9 - 1
15-58853158-A-G c.1147A>G p.M383V Missense 7/9 - 1
15-58853160-G-A c.1149G>A p.M383I Missense 7/9 - 1
15-58853164-A-G c.1153A>G p.K385E Missense 7/9 - 1
15-58853166-A-T c.1155A>T p.K385N Missense 7/9 - 2
15-58853170-C-T c.1159C>T p.P387S Missense 7/9 - 1
15-58853171-C-A c.1160C>A p.P387H Missense 7/9 - 1
15-58853173-A-G c.1162A>G p.I388V Missense 7/9 - 1
15-58853173-A-T c.1162A>T p.I388F Missense 7/9 - 1
15-58853177-C-A c.1166C>A p.T389N Missense 7/9 - 1
15-58853211-T-C c.1169+31T>C - IntronicSNV - 7/8 8
15-58853216-C-T c.1169+36C>T - IntronicSNV - 7/8 1
15-58853212-GAC-G c.1169+37_1169+38del - IntronicDeletion - 7/8 4
15-58853218-C-A c.1169+38C>A - IntronicSNV - 7/8 5
15-58853218-C-T c.1169+38C>T - IntronicSNV - 7/8 9
15-58853292-G-A c.1169+112G>A - IntronicSNV - 7/8 1
15-58853305-A-G c.1169+125A>G - IntronicSNV - 7/8 1
15-58853307-C-G c.1169+127C>G - IntronicSNV - 7/8 9
15-58853330-A-G c.1169+150A>G - IntronicSNV - 7/8 1
15-58853350-G-A c.1169+170G>A - IntronicSNV - 7/8 1
15-58853350-G-T c.1169+170G>T - IntronicSNV - 7/8 1
15-58853363-ACC-A c.1169+183_1169+184del - IntronicDeletion - 7/8 1
15-58853363-C-T c.1169+183C>T - IntronicSNV - 7/8 8
15-58853364-C-T c.1169+184C>T - IntronicSNV - 7/8 1
15-58853365-G-A c.1169+185G>A - IntronicSNV - 7/8 1
15-58853365-G-C c.1169+185G>C - IntronicSNV - 7/8 2
15-58853373-G-A c.1169+193G>A - IntronicSNV - 7/8 1
15-58853376-T-A c.1169+196T>A - IntronicSNV - 7/8 1
15-58853419-G-C c.1169+239G>C - IntronicSNV - 7/8 1
15-58853424-GGT-G c.1169+244_1169+245del - IntronicDeletion - 7/8 1
15-58853425-T-C c.1169+245T>C - IntronicSNV - 7/8 5
15-58853623-A-G c.1169+443A>G - IntronicSNV - 7/8 1
15-58853631-G-T c.1169+451G>T - IntronicSNV - 7/8 1
15-58853636-T-TA c.1169+457dup - IntronicInsertion - 7/8 1
15-58853724-T-A c.1169+544T>A - IntronicSNV - 7/8 1
15-58853784-T-C c.1169+604T>C - IntronicSNV - 7/8 1
15-58854066-G-A c.1169+886G>A - IntronicSNV - 7/8 1
15-58854123-G-A c.1169+943G>A - IntronicSNV - 7/8 1
15-58854218-G-A c.1169+1038G>A - IntronicSNV - 7/8 1
15-58854439-C-T c.1169+1259C>T - IntronicSNV - 7/8 1
15-58854506-T-C c.1170-1198T>C - IntronicSNV - 7/8 1
15-58854587-A-G c.1170-1117A>G - IntronicSNV - 7/8 1
15-58854587-A-T c.1170-1117A>T - IntronicSNV - 7/8 1
15-58854606-G-A c.1170-1098G>A - IntronicSNV - 7/8 1
15-58854606-G-C c.1170-1098G>C - IntronicSNV - 7/8 1
15-58854753-G-A c.1170-951G>A - IntronicSNV - 7/8 1
15-58854966-A-G c.1170-738A>G - IntronicSNV - 7/8 1
15-58854974-C-T c.1170-730C>T - IntronicSNV - 7/8 1
15-58855128-G-A c.1170-576G>A - IntronicSNV - 7/8 1
15-58855169-G-A c.1170-535G>A - IntronicSNV - 7/8 1
15-58855169-G-T c.1170-535G>T - IntronicSNV - 7/8 1
15-58855368-G-A c.1170-336G>A - IntronicSNV - 7/8 2
15-58855371-G-A c.1170-333G>A - IntronicSNV - 7/8 1
15-58855371-G-C c.1170-333G>C - IntronicSNV - 7/8 1
15-58855464-C-G c.1170-240C>G - IntronicSNV - 7/8 1
15-58855480-A-G c.1170-224A>G - IntronicSNV - 7/8 2
15-58855480-A-T c.1170-224A>T - IntronicSNV - 7/8 2
15-58855510-A-G c.1170-194A>G - IntronicSNV - 7/8 1
15-58855560-C-A c.1170-144C>A - IntronicSNV - 7/8 1
15-58855704-G-A c.1170G>A p.L390= Synonymous 8/9 - 4
15-58855705-G-A c.1171G>A p.G391S Missense 8/9 - 3
15-58855707-C-A c.1173C>A p.G391= Synonymous 8/9 - 1
15-58855707-C-G c.1173C>G p.G391= Synonymous 8/9 - 1
15-58855707-C-T c.1173C>T p.G391= Synonymous 8/9 - 1
15-58855711-G-A c.1177G>A p.G393R Missense 8/9 - 4
15-58855712-G-A c.1178G>A p.G393E Missense 8/9 - 2
15-58855714-A-G c.1180A>G p.I394V Missense 8/9 - 1
15-58855721-G-A c.1187G>A p.S396N Missense 8/9 - 1
15-58855721-G-C c.1187G>C p.S396T Missense 8/9 - 1
15-58855726-A-T c.1192A>T p.K398* Nonsense 8/9 - 1
15-58855731-G-A c.1197G>A p.T399= Synonymous 8/9 - 1
15-58855731-G-T c.1197G>T p.T399= Synonymous 8/9 - 2
15-58855736-C-A c.1202C>A p.S401Y Missense 8/9 - 1
15-58855737-C-A c.1203C>A p.S401= Synonymous 8/9 - 1
15-58855737-C-G c.1203C>G p.S401= Synonymous 8/9 - 1
15-58855737-C-T c.1203C>T p.S401= Synonymous 8/9 - 5
15-58855745-T-C c.1211T>C p.I404T Missense 8/9 - 2
15-58855748-C-T c.1214C>T p.T405M Missense 8/9 - 29
15-58855749-G-T c.1215G>T p.T405= Synonymous 8/9 - 1
15-58855753-G-A c.1219G>A p.D407N Missense 8/9 - 1
15-58855754-A-T c.1220A>T p.D407V Missense 8/9 - 1
15-58855755-T-C c.1221T>C p.D407= Synonymous 8/9 - 1
15-58855756-G-A c.1222G>A p.V408M Missense 8/9 - 2
15-58855759-G-C c.1225G>C p.D409H Missense 8/9 - 2
15-58855760-A-C c.1226A>C p.D409A Missense 8/9 - 8
15-58855760-A-G c.1226A>G p.D409G Missense 8/9 - 1
15-58855764-C-T c.1230C>T p.I410= Synonymous 8/9 - 2
15-58855765-G-A c.1231G>A p.G411S Missense 8/9 - 4
15-58855765-G-C c.1231G>C p.G411R Missense 8/9 - 10
15-58855766-G-A c.1232G>A p.G411D Missense 8/9 - 4
15-58855766-G-T c.1232G>T p.G411V Missense 8/9 - 1
15-58855767-C-T c.1233C>T p.G411= Synonymous 8/9 - 2
15-58855768-G-A c.1234G>A p.E412K Missense 8/9 - 2
15-58855768-G-C c.1234G>C p.E412Q Missense 8/9 - 1
15-58855768-G-T c.1234G>T p.E412* Nonsense 8/9 - 2
15-58855770-G-T c.1236G>T p.E412D Missense 8/9 - 1
15-58855772-T-C c.1238T>C p.L413P Missense 8/9 - 3
15-58855771-C-T c.1237C>T p.L413= Synonymous 8/9 - 1
15-58855773-G-A c.1239G>A p.L413= Synonymous 8/9 - 1
15-58855773-G-C c.1239G>C p.L413= Synonymous 8/9 - 1
15-58855773-G-T c.1239G>T p.L413= Synonymous 8/9 - 1
15-58855777-A-G c.1243A>G p.M415V Missense 8/9 - 1
15-58855778-T-C c.1244T>C p.M415T Missense 8/9 - 1
15-58855780-A-T c.1246A>T p.I416F Missense 8/9 - 1
15-58855785-G-C c.1251G>C p.K417N Missense 8/9 - 6
15-58855785-G-T c.1251G>T p.K417N Missense 8/9 - 3
15-58855790-A-G c.1256A>G p.K419R Missense 8/9 - 1
15-58855791-G-A c.1257G>A p.K419= Synonymous 8/9 - 1
15-58855795-G-A c.1261G>A p.E421K Missense 8/9 - 1
15-58855801-A-T c.1267A>T p.S423C Missense 8/9 - 1
15-58855804-G-A c.1270G>A p.A424T Missense 8/9 - 1
15-58855799-ACAGTG-A c.1271_1275del p.A424Vfs*48 Frameshift 8/9 - 2
15-58855807-G-C c.1273G>C p.V425L Missense 8/9 - 1
15-58855808-T-C c.1274T>C p.V425A Missense 8/9 - 1
15-58855808-T-G c.1274T>G p.V425G Missense 8/9 - 1
15-58855814-C-A c.1280C>A p.A427D Missense 8/9 - 1
15-58855814-C-T c.1280C>T p.A427V Missense 8/9 - 3
15-58855817-A-C c.1283A>C p.N428T Missense 8/9 - 1
15-58855824-G-A c.1290G>A p.W430* Nonsense 8/9 - 1
15-58855829-C-G c.1295C>G p.T432R Missense 8/9 - 4
15-58855829-C-T c.1295C>T p.T432M Missense 8/9 - 1
15-58855830-G-A c.1296G>A p.T432= Synonymous 8/9 - 1
15-58855831-G-A c.1297G>A p.V433I Missense 8/9 - 4
15-58855833-C-T c.1299C>T p.V433= Synonymous 8/9 - 1
15-58855834-C-T c.1300C>T p.Q434* Nonsense 8/9 - 1
15-58855848-A-G c.1314A>G p.P438= Synonymous 8/9 - 3
15-58855849-T-C c.1315T>C p.W439R Missense 8/9 - 1
15-58855851-G-C c.1317G>C p.W439C Missense 8/9 - 1
15-58855851-G-T c.1317G>T p.W439C Missense 8/9 - 1
15-58855853-G-A c.1319G>A p.S440N Missense 8/9 - 2
15-58855859-G-C c.1325G>C p.G442A Missense 8/9 - 1
15-58855860-G-A c.1326G>A p.G442= Synonymous 8/9 - 1
15-58855861-C-T c.1327C>T p.P443S Missense 8/9 - 2
15-58855862-C-A c.1328C>A p.P443Q Missense 8/9 - 1
15-58855862-C-G c.1328C>G p.P443R Missense 8/9 - 1
15-58855862-C-T c.1328C>T p.P443L Missense 8/9 - 1
15-58855864-C-T c.1330C>T p.R444C Missense 8/9 - 6
15-58855871-C-T c.1337C>T p.S446L Missense 8/9 - 1
15-58855874-G-A c.1340G>A p.G447D Missense 8/9 - 1
15-58855875-C-T c.1341C>T p.G447= Synonymous 8/9 - 2
15-58855876-C-G c.1342C>G p.L448V Missense 8/9 - 1
15-58855876-C-T c.1342C>T p.L448F Missense 8/9 - 4
15-58855879-G-A c.1345G>A p.V449I Missense 8/9 - 4
15-58855879-G-T c.1345G>T p.V449F Missense 8/9 - 1
15-58855882-C-T c.1348C>T p.L450= Synonymous 8/9 - 1
15-58855890-G-A c.1356G>A p.T452= Synonymous 8/9 - 2
15-58855895-G-T c.1361G>T p.R454I Missense 8/9 - 1
15-58855898-T-C c.1364T>C p.V455A Missense 8/9 - 1
15-58855904-C-T c.1370C>T p.A457V Missense 8/9 - 1
15-58855906-G-T c.1372G>T p.G458* Nonsense 8/9 - 1
15-58855909-G-A c.1375G>A p.E459K Missense 8/9 - 1
15-58855909-G-T c.1375G>T p.E459* Nonsense 8/9 - 1
15-58855917-G-A c.1383G>A p.Q461= Synonymous 8/9 - 1
15-58855918-C-T c.1384C>T p.Q462* Nonsense 8/9 - 1
15-58855920-A-AC c.1386_1387insC p.R463Qfs*11 SpliceDonorInsertion 8/9 - 1
15-58855920-A-AG c.1386_1387insG p.R463Efs*11 SpliceDonorInsertion 8/9 - 1
15-58855920-A-AT c.1386_1387insT p.R463* SpliceDonorInsertion 8/9 - 1
15-58855918-C-CA c.1387dup p.R463Kfs*11 SpliceDonorInsertion 8/9 - 1
15-58855935-T-G c.1388+13T>G - IntronicSNV - 8/8 1
15-58855950-C-T c.1388+28C>T - IntronicSNV - 8/8 2
15-58856021-A-G c.1388+99A>G - IntronicSNV - 8/8 1
15-58856033-T-C c.1388+111T>C - IntronicSNV - 8/8 7
15-58856072-A-G c.1388+150A>G - IntronicSNV - 8/8 1
15-58856086-C-A c.1388+164C>A - IntronicSNV - 8/8 1
15-58856086-C-T c.1388+164C>T - IntronicSNV - 8/8 3
15-58856193-T-C c.1388+271T>C - IntronicSNV - 8/8 1
15-58856199-G-T c.1388+277G>T - IntronicSNV - 8/8 1
15-58856995-A-G c.1388+1073A>G - IntronicSNV - 8/8 1
15-58857183-T-A c.1388+1261T>A - IntronicSNV - 8/8 3
15-58857183-T-G c.1388+1261T>G - IntronicSNV - 8/8 4
15-58857230-G-C c.1388+1308G>C - IntronicSNV - 8/8 4
15-58857255-A-G c.1388+1333A>G - IntronicSNV - 8/8 7
15-58857312-AT-A c.1388+1394del - IntronicDeletion - 8/8 1
15-58857366-G-A c.1388+1444G>A - IntronicSNV - 8/8 1
15-58857378-A-G c.1388+1456A>G - IntronicSNV - 8/8 11
15-58857395-A-G c.1388+1473A>G - IntronicSNV - 8/8 1
15-58857438-C-G c.1388+1516C>G - IntronicSNV - 8/8 1
15-58857446-A-G c.1388+1524A>G - IntronicSNV - 8/8 1
15-58857514-A-G c.1388+1592A>G - IntronicSNV - 8/8 1
15-58857945-A-G c.1388+2023A>G - IntronicSNV - 8/8 2
15-58857945-A-T c.1388+2023A>T - IntronicSNV - 8/8 2
15-58859395-G-A c.1389-1520G>A - IntronicSNV - 8/8 1
15-58859415-T-A c.1389-1500T>A - IntronicSNV - 8/8 1
15-58859415-T-G c.1389-1500T>G - IntronicSNV - 8/8 1
15-58860702-T-A c.1389-213T>A - IntronicSNV - 8/8 1
15-58860918-G-A c.1392G>A p.M464I Missense 9/9 - 1
15-58860926-G-T c.1400G>T p.C467F Missense 9/9 - 1
15-58860927-T-A c.1401T>A p.C467* Nonsense 9/9 - 1
15-58860935-A-C c.1409A>C p.N470T Missense 9/9 - 1
15-58860937-ACA-TGT c.1411_1413inv p.T471C Missense 9/9 - 1
15-58860938-C-T c.1412C>T p.T471I Missense 9/9 - 1
15-58860940-G-A c.1414G>A p.D472N Missense 9/9 - 1
15-58860941-A-T c.1415A>T p.D472V Missense 9/9 - 2
15-58860946-C-G c.1420C>G p.L474V Missense 9/9 - 1
15-58860947-T-C c.1421T>C p.L474P Missense 9/9 - 1
15-58860955-CGC-TGG c.1429_1431delinsTGG p.R477W Missense 9/9 - 1
15-58860955-C-T c.1429C>T p.R477C Missense 9/9 - 1
15-58860956-G-A c.1430G>A p.R477H Missense 9/9 - 4
15-58860962-C-G c.1436C>G p.T479S Missense 9/9 - 1
15-58860963-C-A c.1437C>A p.T479= Synonymous 9/9 - 26
15-58860963-C-G c.1437C>G p.T479= Synonymous 9/9 - 24
15-58860963-C-T c.1437C>T p.T479= Synonymous 9/9 - 3
15-58860978-C-T c.1452C>T p.F484= Synonymous 9/9 - 2
15-58860983-A-C c.1457A>C p.K486T Missense 9/9 - 1
15-58860988-G-A c.1462G>A p.E488K Missense 9/9 - 1
15-58860992-T-A c.1466T>A p.I489K Missense 9/9 - 1
15-58860996-G-A c.1470G>A p.K490= Synonymous 9/9 - 1
15-58861003-A-G c.1477A>G p.T493A Missense 9/9 - 2
15-58861007-C-A c.1481C>A p.S494* Nonsense 9/9 - 1
15-58861007-C-G c.1481C>G p.S494* Nonsense 9/9 - 2
15-58861010-A-G c.1484A>G p.K495R Missense 9/9 - 1
15-58861012-CG-AA c.1486_1487delinsAA p.R496K Missense 9/9 - 1
15-58861012-C-T c.1486C>T p.R496* Nonsense 9/9 - 2
15-58861013-G-A c.1487G>A p.R496Q Missense 9/9 - 1
15-58861017-G-A c.1491G>A p.K497= Synonymous 9/9 - 1
15-58861022-G-T c.1496G>T p.R499I Missense 9/9 - 1