TRPM7

TRPM7 transient receptor potential cation channel subfamily M member 7

Annotation transcript: NM_017672.6

1538 unique variant annotations were identified in 736 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
15-50849399-T-C c.*4476A>G - 3-UTRSNV 39/39 - 3
15-50849399-T-G c.*4476A>C - 3-UTRSNV 39/39 - 3
15-50850558-A-C c.*3317T>G - 3-UTRSNV 39/39 - 2
15-50850558-A-T c.*3317T>A - 3-UTRSNV 39/39 - 2
15-50850562-T-A c.*3313A>T - 3-UTRSNV 39/39 - 3
15-50850726-C-A c.*3149G>T - 3-UTRSNV 39/39 - 2
15-50850726-C-T c.*3149G>A - 3-UTRSNV 39/39 - 2
15-50852489-A-G c.*1386T>C - 3-UTRSNV 39/39 - 1
15-50853015-G-A c.*860C>T - 3-UTRSNV 39/39 - 1
15-50853372-T-C c.*503A>G - 3-UTRSNV 39/39 - 6
15-50853571-A-G c.*304T>C - 3-UTRSNV 39/39 - 7
15-50853888-C-T c.5585G>A p.R1862H Missense 39/39 - 2
15-50853889-G-A c.5584C>T p.R1862C Missense 39/39 - 14
15-50853889-G-T c.5584C>A p.R1862S Missense 39/39 - 1
15-50853891-A-G c.5582T>C p.V1861A Missense 39/39 - 1
15-50853894-G-T c.5579C>A p.S1860Y Missense 39/39 - 3
15-50853895-A-T c.5578T>A p.S1860T Missense 39/39 - 1
15-50853900-G-C c.5573C>G p.T1858S Missense 39/39 - 1
15-50853900-G-T c.5573C>A p.T1858N Missense 39/39 - 1
15-50853903-G-C c.5570C>G p.S1857* Nonsense 39/39 - 2
15-50853903-G-T c.5570C>A p.S1857* Nonsense 39/39 - 2
15-50853905-T-C c.5568A>G p.E1856= Synonymous 39/39 - 1
15-50853909-G-A c.5564C>T p.S1855L Missense 39/39 - 2
15-50853911-T-G c.5562A>C p.E1854D Missense 39/39 - 1
15-50853917-G-C c.5556C>G p.T1852= Synonymous 39/39 - 1
15-50853923-A-C c.5550T>G p.N1850K Missense 39/39 - 1
15-50853929-A-G c.5544T>C p.P1848= Synonymous 39/39 - 1
15-50853943-A-T c.5530T>A p.L1844M Missense 39/39 - 1
15-50853958-C-T c.5515G>A p.D1839N Missense 39/39 - 2
15-50853970-T-C c.5503A>G p.I1835V Missense 39/39 - 1
15-50853979-C-T c.5494G>A p.D1832N Missense 39/39 - 4
15-50854003-G-T c.5470C>A p.L1824M Missense 39/39 - 3
15-50854030-A-T c.5468-25T>A - IntronicSNV - 38/38 1
15-50854184-C-T c.5468-179G>A - IntronicSNV - 38/38 3
15-50854193-G-A c.5468-188C>T - IntronicSNV - 38/38 3
15-50860060-C-T c.5467+2024G>A - IntronicSNV - 38/38 1
15-50861008-CA-C c.5467+1075del - IntronicDeletion - 38/38 1
15-50861402-A-AT c.5467+681dup - IntronicInsertion - 38/38 1
15-50862084-C-T c.5467G>A p.D1823N Missense 38/39 - 1
15-50862085-T-C c.5466A>G p.P1822= Synonymous 38/39 - 1
15-50862102-T-C c.5449A>G p.R1817G Missense 38/39 - 1
15-50862110-G-A c.5441C>T p.S1814F Missense 38/39 - 2
15-50862140-T-G c.5411A>C p.K1804T Missense 38/39 - 3
15-50862147-C-T c.5404G>A p.A1802T Missense 38/39 - 1
15-50862154-TC-GT c.5396_5397delinsAC p.G1799D Missense 38/39 - 9
15-50862155-CC-AT c.5395_5396delinsAT p.G1799I Missense 38/39 - 1
15-50862155-CC-GT c.5395_5396delinsAC p.G1799T Missense 38/39 - 1
15-50862156-C-G c.5395G>C p.G1799R Missense 38/39 - 2
15-50862156-C-T c.5395G>A p.G1799R Missense 38/39 - 1
15-50862157-T-A c.5394A>T p.L1798= Synonymous 38/39 - 1
15-50862161-T-A c.5390A>T p.N1797I Missense 38/39 - 1
15-50862166-T-A c.5385A>T p.P1795= Synonymous 38/39 - 1
15-50862169-G-A c.5382C>T p.G1794= Synonymous 38/39 - 3
15-50862169-G-C c.5382C>G p.G1794= Synonymous 38/39 - 1
15-50862169-G-T c.5382C>A p.G1794= Synonymous 38/39 - 1
15-50862182-T-A c.5369A>T p.D1790V Missense 38/39 - 1
15-50862189-A-G c.5362T>C p.S1788P Missense 38/39 - 1
15-50862210-A-G c.5361-20T>C - IntronicSNV - 37/38 1
15-50862210-A-T c.5361-20T>A - IntronicSNV - 37/38 1
15-50862209-T-TA c.5361-20dup - IntronicInsertion - 37/38 1
15-50862247-G-C c.5360+54C>G - IntronicSNV - 37/38 1
15-50862325-G-C c.5336C>G p.S1779C Missense 37/39 - 1
15-50862329-G-A c.5332C>T p.P1778S Missense 37/39 - 1
15-50862329-G-T c.5332C>A p.P1778T Missense 37/39 - 1
15-50862348-A-C c.5313T>G p.V1771= Synonymous 37/39 - 1
15-50862348-A-G c.5313T>C p.V1771= Synonymous 37/39 - 1
15-50862348-A-T c.5313T>A p.V1771= Synonymous 37/39 - 1
15-50862357-A-G c.5309-5T>C - IntronicSNV - 36/38 1
15-50863658-T-C c.5309-1306A>G - IntronicSNV - 36/38 1
15-50866480-C-T c.5299G>A p.D1767N Missense 36/39 - 2
15-50866489-G-A c.5290C>T p.L1764= Synonymous 36/39 - 1
15-50866506-T-C c.5273A>G p.Y1758C Missense 36/39 - 1
15-50866510-C-T c.5269G>A p.E1757K Missense 36/39 - 2
15-50866511-G-A c.5268C>T p.Y1756= Synonymous 36/39 - 1
15-50866514-A-G c.5265T>C p.T1755= Synonymous 36/39 - 1
15-50866522-G-A c.5257C>T p.H1753Y Missense 36/39 - 7
15-50866529-G-A c.5250C>T p.A1750= Synonymous 36/39 - 2
15-50866530-G-A c.5249C>T p.A1750V Missense 36/39 - 3
15-50866531-C-G c.5248G>C p.A1750P Missense 36/39 - 3
15-50866532-T-C c.5247A>G p.L1749= Synonymous 36/39 - 1
15-50866543-C-G c.5236G>C p.E1746Q Missense 36/39 - 1
15-50866551-G-A c.5228C>T p.T1743I Missense 36/39 - 1
15-50866551-G-C c.5228C>G p.T1743S Missense 36/39 - 1
15-50866552-T-A c.5227A>T p.T1743S Missense 36/39 - 1
15-50866565-A-C c.5214T>G p.I1738M Missense 36/39 - 1
15-50866575-C-G c.5204G>C p.G1735A Missense 36/39 - 3
15-50866576-C-G c.5203G>C p.G1735R Missense 36/39 - 1
15-50866576-C-T c.5203G>A p.G1735R Missense 36/39 - 1
15-50866587-TT-AC c.5191_5192delinsGT p.N1731V Missense 36/39 - 1
15-50866595-T-C c.5184A>G p.R1728= Synonymous 36/39 - 1
15-50866597-T-G c.5182A>C p.R1728= Synonymous 36/39 - 1
15-50866596-CT-TG c.5182_5183delinsCA p.R1728Q Missense 36/39 - 1
15-50866605-C-G c.5174G>C p.G1725A Missense 36/39 - 3
15-50866608-G-A c.5171C>T p.T1724I Missense 36/39 - 1
15-50866612-T-C c.5167A>G p.M1723V Missense 36/39 - 3
15-50866618-C-G c.5161G>C p.E1721Q Missense 36/39 - 1
15-50866621-C-T c.5158G>A p.E1720K Missense 36/39 - 1
15-50866642-C-T c.5137G>A p.A1713T Missense 36/39 - 1
15-50866645-A-T c.5134T>A p.S1712T Missense 36/39 - 1
15-50866648-G-T c.5131C>A p.H1711N Missense 36/39 - 1
15-50866649-G-A c.5130C>T p.C1710= Synonymous 36/39 - 1
15-50866651-A-C c.5128T>G p.C1710G Missense 36/39 - 1
15-50866654-A-T c.5125T>A p.Y1709N Missense 36/39 - 1
15-50866661-G-A c.5118C>T p.F1706= Synonymous 36/39 - 1
15-50866669-C-A c.5110G>T p.E1704* Nonsense 36/39 - 3
15-50866675-A-G c.5104T>C p.F1702L Missense 36/39 - 1
15-50866681-T-C c.5103-5A>G - IntronicSNV - 35/38 1
15-50866832-A-T c.5102+2T>A - IntronicSNV - 35/38 1
15-50866840-G-A c.5096C>T p.S1699F Missense 35/39 - 1
15-50866850-T-C c.5086A>G p.I1696V Missense 35/39 - 2
15-50866873-A-T c.5063T>A p.F1688Y Missense 35/39 - 6
15-50866881-C-A c.5055G>T p.T1685= Synonymous 35/39 - 1
15-50866881-C-G c.5055G>C p.T1685= Synonymous 35/39 - 1
15-50866881-CGT-ACA c.5053_5055delinsTGT p.T1685C Missense 35/39 - 1
15-50866881-C-T c.5055G>A p.T1685= Synonymous 35/39 - 1
15-50866914-T-A c.5022A>T p.E1674D Missense 35/39 - 1
15-50867058-G-A c.5010C>T p.L1670= Synonymous 34/39 - 1
15-50867058-G-C c.5010C>G p.L1670= Synonymous 34/39 - 1
15-50867058-G-T c.5010C>A p.L1670= Synonymous 34/39 - 1
15-50867063-G-A c.5005C>T p.H1669Y Missense 34/39 - 1
15-50867065-A-G c.5003T>C p.L1668P Missense 34/39 - 1
15-50867082-G-A c.4986C>T p.Y1662= Synonymous 34/39 - 23
15-50867083-T-C c.4985A>G p.Y1662C Missense 34/39 - 2
15-50867088-A-G c.4980T>C p.S1660= Synonymous 34/39 - 1
15-50867090-T-C c.4978A>G p.S1660G Missense 34/39 - 1
15-50867092-G-A c.4976C>T p.S1659L Missense 34/39 - 1
15-50867092-GA-CC c.4975_4976delinsGG p.S1659G Missense 34/39 - 1
15-50867114-G-A c.4954C>T p.P1652S Missense 34/39 - 1
15-50867122-G-T c.4946C>A p.S1649Y Missense 34/39 - 1
15-50867125-T-C c.4943A>G p.K1648R Missense 34/39 - 28
15-50867125-T-G c.4943A>C p.K1648T Missense 34/39 - 1
15-50867138-G-T c.4930C>A p.L1644I Missense 34/39 - 1
15-50867142-C-T c.4926G>A p.G1642= Synonymous 34/39 - 4
15-50867153-G-C c.4915C>G p.L1639V Missense 34/39 - 1
15-50867167-G-A c.4901C>T p.S1634L Missense 34/39 - 2
15-50867168-AC-A c.4899del p.W1633Cfs*40 Frameshift 34/39 - 1
15-50867173-G-A c.4895C>T p.T1632I Missense 34/39 - 3
15-50867176-C-G c.4892G>C p.C1631S Missense 34/39 - 3
15-50867177-A-T c.4891T>A p.C1631S Missense 34/39 - 3
15-50867182-A-T c.4886T>A p.V1629E Missense 34/39 - 1
15-50867185-T-G c.4883A>C p.K1628T Missense 34/39 - 1
15-50867194-C-G c.4874G>C p.R1625T Missense 34/39 - 1
15-50867198-G-A c.4870C>T p.R1624* Nonsense 34/39 - 3
15-50867199-T-A c.4869A>T p.L1623F Missense 34/39 - 1
15-50867199-T-G c.4869A>C p.L1623F Missense 34/39 - 1
15-50867204-C-G c.4864G>C p.G1622R Missense 34/39 - 2
15-50867205-T-C c.4863A>G p.G1621= Synonymous 34/39 - 1
15-50867207-C-G c.4861G>C p.G1621R Missense 34/39 - 1
15-50867208-T-A c.4860A>T p.G1620= Synonymous 34/39 - 1
15-50867208-T-C c.4860A>G p.G1620= Synonymous 34/39 - 1
15-50867208-T-G c.4860A>C p.G1620= Synonymous 34/39 - 1
15-50867213-T-A c.4855A>T p.M1619L Missense 34/39 - 2
15-50867216-C-A c.4852G>T p.E1618* Nonsense 34/39 - 1
15-50867230-A-C c.4838T>G p.F1613C Missense 34/39 - 1
15-50867242-G-A c.4826C>T p.A1609V Missense 34/39 - 2
15-50867247-G-A c.4821C>T p.L1607= Synonymous 34/39 - 1
15-50867247-G-C c.4821C>G p.L1607= Synonymous 34/39 - 1
15-50867247-G-T c.4821C>A p.L1607= Synonymous 34/39 - 1
15-50867259-T-C c.4809A>G p.S1603= Synonymous 34/39 - 1
15-50867260-G-C c.4808C>G p.S1603* Nonsense 34/39 - 1
15-50867260-G-T c.4808C>A p.S1603* Nonsense 34/39 - 1
15-50867262-C-T c.4806G>A p.W1602* Nonsense 34/39 - 1
15-50867263-C-T c.4805G>A p.W1602* Nonsense 34/39 - 1
15-50867265-A-AAGCTCTTCGTAAACCT c.4802_4803insAGGTTTACGAAGAGCT p.W1602Gfs*41 Frameshift 34/39 - 1
15-50867287-A-G c.4781T>C p.I1594T Missense 34/39 - 4
15-50867290-T-C c.4778A>G p.N1593S Missense 34/39 - 2
15-50867291-T-TA c.4776_4777insT p.N1593* Nonsense 34/39 - 1
15-50867312-G-A c.4756C>T p.R1586C Missense 34/39 - 5
15-50867841-C-T c.4735+80G>A - IntronicSNV - 33/38 1
15-50867916-T-G c.4735+5A>C - IntronicSNV - 33/38 1
15-50867926-G-A c.4730C>T p.P1577L Missense 33/39 - 2
15-50867927-G-A c.4729C>T p.P1577S Missense 33/39 - 2
15-50867930-G-A c.4726C>T p.P1576S Missense 33/39 - 1
15-50867936-G-A c.4720C>T p.P1574S Missense 33/39 - 2
15-50867949-G-A c.4707C>T p.S1569= Synonymous 33/39 - 1
15-50867950-C-T c.4706G>A p.S1569N Missense 33/39 - 1
15-50867955-TGA-GTC c.4699_4701delinsGAC p.S1567D Missense 33/39 - 2
15-50867956-GA-TC c.4699_4700inv p.S1567E Missense 33/39 - 1
15-50867957-A-C c.4699T>G p.S1567A Missense 33/39 - 3
15-50867958-T-C c.4698A>G p.L1566= Synonymous 33/39 - 1
15-50867977-C-A c.4679G>T p.R1560I Missense 33/39 - 1
15-50867983-A-G c.4673T>C p.V1558A Missense 33/39 - 1
15-50867984-C-T c.4672G>A p.V1558M Missense 33/39 - 1
15-50867985-A-C c.4671T>G p.A1557= Synonymous 33/39 - 2
15-50867985-A-G c.4671T>C p.A1557= Synonymous 33/39 - 1
15-50867985-A-T c.4671T>A p.A1557= Synonymous 33/39 - 1
15-50868071-T-C c.4664A>G p.Y1555C Missense 32/39 - 1
15-50868077-T-A c.4658A>T p.Y1553F Missense 32/39 - 1
15-50868077-TA-AG c.4657_4658delinsCT p.Y1553L Missense 32/39 - 1
15-50868077-TA-GC c.4657_4658delinsGC p.Y1553A Missense 32/39 - 1
15-50868095-G-C c.4640C>G p.P1547R Missense 32/39 - 3
15-50868099-T-G c.4636A>C p.K1546Q Missense 32/39 - 1
15-50868104-G-A c.4631C>T p.P1544L Missense 32/39 - 5
15-50868109-A-C c.4626T>G p.T1542= Synonymous 32/39 - 1
15-50868109-A-G c.4626T>C p.T1542= Synonymous 32/39 - 1
15-50868109-A-T c.4626T>A p.T1542= Synonymous 32/39 - 1
15-50868110-G-C c.4625C>G p.T1542S Missense 32/39 - 1
15-50868111-T-A c.4624A>T p.T1542S Missense 32/39 - 1
15-50868114-G-C c.4621C>G p.L1541V Missense 32/39 - 1
15-50868116-C-A c.4619G>T p.G1540V Missense 32/39 - 2
15-50868324-C-G c.4619-208G>C - IntronicSNV - 31/38 1
15-50868324-C-T c.4619-208G>A - IntronicSNV - 31/38 1
15-50869042-C-T c.4619-926G>A - IntronicSNV - 31/38 1
15-50870517-G-A c.4618+319C>T - IntronicSNV - 31/38 1
15-50870833-C-A c.4618+3G>T - IntronicSNV - 31/38 1
15-50870848-C-T c.4606G>A p.G1536R Missense 31/39 - 1
15-50870856-G-T c.4598C>A p.S1533Y Missense 31/39 - 1
15-50870860-G-A c.4594C>T p.P1532S Missense 31/39 - 1
15-50873077-C-A c.4586G>T p.R1529I Missense 30/39 - 1
15-50873079-G-A c.4584C>T p.N1528= Synonymous 30/39 - 1
15-50873088-TCT-CCA c.4573_4575delinsTGG p.R1525W Missense 30/39 - 1
15-50873090-T-C c.4573A>G p.R1525G Missense 30/39 - 1
15-50873095-T-C c.4568A>G p.Q1523R Missense 30/39 - 1
15-50873095-T-G c.4568A>C p.Q1523P Missense 30/39 - 3
15-50873105-C-T c.4558G>A p.D1520N Missense 30/39 - 1
15-50873121-A-C c.4558-16T>G - IntronicSNV - 29/38 1
15-50873135-A-C c.4558-30T>G - IntronicSNV - 29/38 1
15-50873137-A-C c.4558-32T>G - IntronicSNV - 29/38 1
15-50873262-A-G c.4558-157T>C - IntronicSNV - 29/38 4
15-50873344-T-A c.4558-239A>T - IntronicSNV - 29/38 5
15-50874906-T-C c.4557+380A>G - IntronicSNV - 29/38 1
15-50875288-G-T c.4555C>A p.P1519T Missense 29/39 - 1
15-50875299-G-A c.4544C>T p.A1515V Missense 29/39 - 1
15-50875305-G-A c.4538C>T p.S1513F Missense 29/39 - 2
15-50875319-A-C c.4524T>G p.T1508= Synonymous 29/39 - 1
15-50875319-A-G c.4524T>C p.T1508= Synonymous 29/39 - 1
15-50875319-A-T c.4524T>A p.T1508= Synonymous 29/39 - 1
15-50875324-C-G c.4519G>C p.D1507H Missense 29/39 - 1
15-50875327-C-T c.4516G>A p.E1506K Missense 29/39 - 2
15-50875328-G-A c.4515C>T p.T1505= Synonymous 29/39 - 1
15-50875328-G-C c.4515C>G p.T1505= Synonymous 29/39 - 2
15-50875328-G-T c.4515C>A p.T1505= Synonymous 29/39 - 1
15-50875336-G-A c.4507C>T p.P1503S Missense 29/39 - 1
15-50875340-TCTA-T c.4500_4502del p.S1500del InFrameDeletion 29/39 - 2
15-50875346-G-A c.4497C>T p.I1499= Synonymous 29/39 - 1
15-50878478-G-A c.4486+111C>T - IntronicSNV - 28/38 5
15-50878509-T-C c.4486+80A>G - IntronicSNV - 28/38 7
15-50878565-T-G c.4486+24A>C - IntronicSNV - 28/38 1
15-50878574-G-A c.4486+15C>T - IntronicSNV - 28/38 10
15-50878604-C-T c.4471G>A p.V1491I Missense 28/39 - 1
15-50878605-A-C c.4470T>G p.P1490= Synonymous 28/39 - 1
15-50878605-A-G c.4470T>C p.P1490= Synonymous 28/39 - 1
15-50878605-A-T c.4470T>A p.P1490= Synonymous 28/39 - 1
15-50878612-G-A c.4463C>T p.S1488F Missense 28/39 - 1
15-50878614-A-C c.4461T>G p.T1487= Synonymous 28/39 - 2
15-50878618-C-T c.4457G>A p.R1486K Missense 28/39 - 2
15-50878623-A-G c.4452T>C p.C1484= Synonymous 28/39 - 2
15-50878630-G-A c.4445C>T p.T1482I Missense 28/39 - 54
15-50878630-G-T c.4445C>A p.T1482N Missense 28/39 - 13
15-50878630-GT-AG c.4444_4445delinsCT p.T1482L Missense 28/39 - 1
15-50878636-C-T c.4439G>A p.G1480E Missense 28/39 - 1
15-50878640-C-A c.4435G>T p.A1479S Missense 28/39 - 1
15-50878640-C-T c.4435G>A p.A1479T Missense 28/39 - 1
15-50878648-C-A c.4427G>T p.S1476I Missense 28/39 - 1
15-50878648-CT-AA c.4426_4427delinsTT p.S1476F Missense 28/39 - 1
15-50878653-TC-AT c.4421_4422delinsAT p.R1474H Missense 28/39 - 1
15-50878654-C-T c.4421G>A p.R1474Q Missense 28/39 - 4
15-50878663-G-A c.4412C>T p.T1471I Missense 28/39 - 1
15-50878663-GTGTTTTCAGAAGTAT-G c.4397_4411del p.N1466_N1470del InFrameDeletion 28/39 - 1
15-50878670-TCAG-T c.4403_4405del p.S1468_E1469delins* MultiAAMissense 28/39 - 1
15-50878672-G-GTT c.4402_4403insAA p.S1468* Nonsense 28/39 - 1
15-50878678-T-C c.4397A>G p.N1466S Missense 28/39 - 1
15-50880294-T-TC c.4389+1494dup - IntronicInsertion - 27/38 1
15-50881588-G-A c.4389+201C>T - IntronicSNV - 27/38 1
15-50881635-A-G c.4389+154T>C - IntronicSNV - 27/38 1
15-50881789-G-A c.4389C>T p.S1463= Synonymous 27/39 - 1
15-50881790-G-A c.4388C>T p.S1463F Missense 27/39 - 1
15-50881790-G-C c.4388C>G p.S1463C Missense 27/39 - 2
15-50881800-T-G c.4378A>C p.K1460Q Missense 27/39 - 1
15-50881796-A-AT c.4381dup p.I1461Nfs*5 Frameshift 27/39 - 1
15-50881809-T-C c.4369A>G p.N1457D Missense 27/39 - 1
15-50881812-A-T c.4366T>A p.S1456T Missense 27/39 - 1
15-50881822-A-T c.4356T>A p.F1452L Missense 27/39 - 3
15-50881822-A-C c.4356T>G p.F1452L Missense 27/39 - 1
15-50881824-A-G c.4354T>C p.F1452L Missense 27/39 - 1
15-50881837-C-A c.4341G>T p.M1447I Missense 27/39 - 1
15-50881837-C-G c.4341G>C p.M1447I Missense 27/39 - 1
15-50881837-C-T c.4341G>A p.M1447I Missense 27/39 - 1
15-50881845-C-T c.4333G>A p.D1445N Missense 27/39 - 1
15-50881847-C-T c.4331G>A p.R1444K Missense 27/39 - 1
15-50881853-C-T c.4325G>A p.G1442E Missense 27/39 - 2
15-50882045-T-TTTTTTTTG c.4325-193_4325-192insCAAAAAAA - IntronicInsertion - 26/38 4
15-50882479-A-G c.4325-626T>C - IntronicSNV - 26/38 1
15-50882479-A-T c.4325-626T>A - IntronicSNV - 26/38 1
15-50882645-T-C c.4325-792A>G - IntronicSNV - 26/38 1
15-50883038-A-G c.4324+1070T>C - IntronicSNV - 26/38 1
15-50884059-G-A c.4324+49C>T - IntronicSNV - 26/38 1
15-50884108-C-A c.4324G>T p.G1442* Nonsense 26/39 - 1
15-50884110-A-T c.4322T>A p.V1441E Missense 26/39 - 1
15-50884111-C-T c.4321G>A p.V1441I Missense 26/39 - 1
15-50884129-T-C c.4303A>G p.T1435A Missense 26/39 - 1
15-50884152-G-C c.4280C>G p.S1427C Missense 26/39 - 4
15-50884152-G-T c.4280C>A p.S1427Y Missense 26/39 - 1
15-50884153-A-G c.4279T>C p.S1427P Missense 26/39 - 1
15-50884157-A-C c.4275T>G p.V1425= Synonymous 26/39 - 1
15-50884157-A-G c.4275T>C p.V1425= Synonymous 26/39 - 1
15-50884157-A-T c.4275T>A p.V1425= Synonymous 26/39 - 1
15-50884176-G-A c.4256C>T p.T1419I Missense 26/39 - 1
15-50884186-C-T c.4246G>A p.E1416K Missense 26/39 - 1
15-50884203-C-T c.4229G>A p.S1410N Missense 26/39 - 1
15-50884210-G-GGAGGATGATGATGGTAATGATAGTGATGGTGATGGTAATGATGA c.4221_4222insTCATCATTACCATCACCATCACTATCATTACCATCATCATCCTC p.Q1408Sfs*49 Frameshift 26/39 - 1
15-50884214-TG-T c.4217del p.P1406Hfs*36 Frameshift 26/39 - 1
15-50884216-G-A c.4216C>T p.P1406S Missense 26/39 - 3
15-50884230-A-C c.4202T>G p.F1401C Missense 26/39 - 1
15-50884233-T-A c.4199A>T p.K1400I Missense 26/39 - 1
15-50884237-T-TGAGGATGATGATGGTAATGATAGTGATGGTGATGGTAATGATGA c.4194_4195insTCATCATTACCATCACCATCACTATCATTACCATCATCATCCTC p.T1399Sfs*58 Frameshift 26/39 - 1
15-50884245-G-T c.4187C>A p.S1396Y Missense 26/39 - 2
15-50884248-G-A c.4184C>T p.S1395L Missense 26/39 - 1
15-50884252-G-C c.4180C>G p.L1394V Missense 26/39 - 1
15-50884255-G-A c.4177C>T p.H1393Y Missense 26/39 - 1
15-50884258-G-A c.4174C>T p.P1392S Missense 26/39 - 2
15-50884259-T-C c.4173A>G p.I1391M Missense 26/39 - 8
15-50884267-T-C c.4165A>G p.T1389A Missense 26/39 - 2
15-50884273-A-G c.4159T>C p.S1387P Missense 26/39 - 3
15-50884275-C-G c.4157G>C p.S1386T Missense 26/39 - 2
15-50884280-T-A c.4152A>T p.L1384F Missense 26/39 - 1
15-50884280-T-G c.4152A>C p.L1384F Missense 26/39 - 1
15-50884283-T-C c.4149A>G p.K1383= Synonymous 26/39 - 1
15-50884285-T-A c.4147A>T p.K1383* Nonsense 26/39 - 1
15-50884288-GATTTTT-G c.4138_4143del p.K1380_N1381del InFrameDeletion 26/39 - 1
15-50884293-T-G c.4139A>C p.K1380T Missense 26/39 - 1
15-50884312-G-T c.4120C>A p.L1374I Missense 26/39 - 1
15-50884315-C-G c.4117G>C p.E1373Q Missense 26/39 - 4
15-50884320-C-A c.4112G>T p.G1371V Missense 26/39 - 1
15-50884320-C-T c.4112G>A p.G1371E Missense 26/39 - 1
15-50884326-A-C c.4106T>G p.L1369R Missense 26/39 - 1
15-50884329-C-G c.4103G>C p.R1368T Missense 26/39 - 1
15-50884331-C-A c.4101G>T p.Q1367H Missense 26/39 - 1
15-50884331-C-G c.4101G>C p.Q1367H Missense 26/39 - 1
15-50884331-C-T c.4101G>A p.Q1367= Synonymous 26/39 - 1
15-50884335-C-A c.4097G>T p.R1366L Missense 26/39 - 1
15-50884336-G-A c.4096C>T p.R1366* Nonsense 26/39 - 1
15-50884338-A-G c.4094T>C p.L1365P Missense 26/39 - 1
15-50884348-G-A c.4084C>T p.P1362S Missense 26/39 - 3
15-50884349-G-A c.4083C>T p.S1361= Synonymous 26/39 - 5
15-50884349-G-C c.4083C>G p.S1361= Synonymous 26/39 - 1
15-50884349-G-T c.4083C>A p.S1361= Synonymous 26/39 - 1
15-50884354-C-A c.4078G>T p.V1360F Missense 26/39 - 1
15-50884355-A-C c.4077T>G p.A1359= Synonymous 26/39 - 1
15-50884355-A-G c.4077T>C p.A1359= Synonymous 26/39 - 1
15-50884355-A-T c.4077T>A p.A1359= Synonymous 26/39 - 1
15-50884363-G-A c.4069C>T p.P1357S Missense 26/39 - 3
15-50884363-G-T c.4069C>A p.P1357T Missense 26/39 - 1
15-50884364-G-A c.4068C>T p.F1356= Synonymous 26/39 - 2
15-50884367-T-C c.4065A>G p.L1355= Synonymous 26/39 - 1
15-50884374-C-T c.4058G>A p.G1353D Missense 26/39 - 1
15-50884377-G-C c.4055C>G p.S1352C Missense 26/39 - 1
15-50884379-A-G c.4053T>C p.S1351= Synonymous 26/39 - 1
15-50884383-G-A c.4049C>T p.S1350F Missense 26/39 - 1
15-50884400-A-G c.4032T>C p.N1344= Synonymous 26/39 - 1
15-50884403-A-C c.4029T>G p.F1343L Missense 26/39 - 1
15-50884403-A-G c.4029T>C p.F1343= Synonymous 26/39 - 1
15-50884406-T-A c.4026A>T p.E1342D Missense 26/39 - 2
15-50884406-T-G c.4026A>C p.E1342D Missense 26/39 - 2
15-50884408-C-A c.4024G>T p.E1342* Nonsense 26/39 - 4
15-50884412-TCT-ACA c.4018_4020delinsTGT p.R1340C Missense 26/39 - 1
15-50884413-C-A c.4019G>T p.R1340I Missense 26/39 - 2
15-50884413-C-G c.4019G>C p.R1340T Missense 26/39 - 1
15-50884414-T-TGAGGATGATGATGGTAATGATAGTGATGGTGATGGTAATGATGA c.4017_4018insTCATCATTACCATCACCATCACTATCATTACCATCATCATCCTC p.R1340Sfs*48 Frameshift 26/39 - 1
15-50884425-G-A c.4007C>T p.A1336V Missense 26/39 - 3
15-50884435-C-A c.3997G>T p.D1333Y Missense 26/39 - 3
15-50884452-C-A c.3980G>T p.C1327F Missense 26/39 - 1
15-50884459-G-A c.3973C>T p.P1325S Missense 26/39 - 6
15-50884460-A-G c.3972T>C p.D1324= Synonymous 26/39 - 1
15-50884464-T-C c.3968A>G p.K1323R Missense 26/39 - 1
15-50884470-T-C c.3962A>G p.D1321G Missense 26/39 - 2
15-50884471-C-G c.3961G>C p.D1321H Missense 26/39 - 1
15-50884484-A-T c.3948T>A p.N1316K Missense 26/39 - 1
15-50884497-G-A c.3935C>T p.P1312L Missense 26/39 - 1
15-50884498-G-A c.3934C>T p.P1312S Missense 26/39 - 5
15-50884510-C-A c.3922G>T p.E1308* Nonsense 26/39 - 3
15-50884513-G-A c.3919C>T p.L1307F Missense 26/39 - 2
15-50884514-A-T c.3918T>A p.D1306E Missense 26/39 - 1
15-50884521-T-C c.3911A>G p.Q1304R Missense 26/39 - 1
15-50884522-G-A c.3910C>T p.Q1304* Nonsense 26/39 - 1
15-50884525-G-A c.3907C>T p.P1303S Missense 26/39 - 2
15-50884525-G-T c.3907C>A p.P1303T Missense 26/39 - 1
15-50884528-G-C c.3904C>G p.L1302V Missense 26/39 - 2
15-50884532-G-A c.3900C>T p.S1300= Synonymous 26/39 - 2
15-50884532-G-C c.3900C>G p.S1300= Synonymous 26/39 - 1
15-50884532-G-T c.3900C>A p.S1300= Synonymous 26/39 - 1
15-50884535-G-A c.3897C>T p.S1299= Synonymous 26/39 - 1
15-50884535-G-C c.3897C>G p.S1299R Missense 26/39 - 1
15-50884535-G-T c.3897C>A p.S1299R Missense 26/39 - 1
15-50884537-T-G c.3895A>C p.S1299R Missense 26/39 - 1
15-50884538-A-C c.3894T>G p.L1298= Synonymous 26/39 - 1
15-50884542-G-T c.3890C>A p.T1297K Missense 26/39 - 1
15-50884544-A-G c.3888T>C p.N1296= Synonymous 26/39 - 1
15-50884554-C-T c.3878G>A p.G1293D Missense 26/39 - 3
15-50884566-C-T c.3866G>A p.W1289* Nonsense 26/39 - 1
15-50884596-A-G c.3836T>C p.I1279T Missense 26/39 - 1
15-50884626-CT-GC c.3805_3806delinsGC p.S1269A Missense 26/39 - 3
15-50884628-C-A c.3804G>T p.L1268= Synonymous 26/39 - 1
15-50884628-C-G c.3804G>C p.L1268= Synonymous 26/39 - 1
15-50884628-C-T c.3804G>A p.L1268= Synonymous 26/39 - 1
15-50884630-G-A c.3802C>T p.L1268= Synonymous 26/39 - 1
15-50884634-TC-AT c.3797_3798delinsAT p.R1266H Missense 26/39 - 1
15-50884635-C-T c.3797G>A p.R1266Q Missense 26/39 - 1
15-50884645-C-G c.3787G>C p.E1263Q Missense 26/39 - 1
15-50884651-G-A c.3781C>T p.H1261Y Missense 26/39 - 1
15-50884659-C-A c.3773G>T p.S1258I Missense 26/39 - 1
15-50884667-C-A c.3765G>T p.S1255= Synonymous 26/39 - 1
15-50884667-C-G c.3765G>C p.S1255= Synonymous 26/39 - 2
15-50884667-C-T c.3765G>A p.S1255= Synonymous 26/39 - 6
15-50884669-A-C c.3763T>G p.S1255A Missense 26/39 - 1
15-50884671-G-A c.3761C>T p.A1254V Missense 26/39 - 4
15-50884683-G-T c.3749C>A p.T1250N Missense 26/39 - 1
15-50884686-A-T c.3746T>A p.L1249H Missense 26/39 - 1
15-50884691-T-A c.3741A>T p.K1247N Missense 26/39 - 1
15-50884691-T-G c.3741A>C p.K1247N Missense 26/39 - 1
15-50884689-GT-G c.3742del p.T1248Hfs*21 Frameshift 26/39 - 1
15-50884696-A-T c.3736T>A p.L1246I Missense 26/39 - 1
15-50884705-C-T c.3727G>A p.V1243I Missense 26/39 - 1
15-50884706-C-A c.3726G>T p.T1242= Synonymous 26/39 - 2
15-50884706-C-G c.3726G>C p.T1242= Synonymous 26/39 - 2
15-50884706-C-T c.3726G>A p.T1242= Synonymous 26/39 - 3
15-50884707-G-A c.3725C>T p.T1242M Missense 26/39 - 1
15-50884716-G-C c.3716C>G p.S1239* Nonsense 26/39 - 1
15-50884716-G-T c.3716C>A p.S1239* Nonsense 26/39 - 1
15-50884742-A-T c.3690T>A p.S1230= Synonymous 26/39 - 2
15-50884743-G-A c.3689C>T p.S1230F Missense 26/39 - 2
15-50884746-T-A c.3686A>T p.D1229V Missense 26/39 - 1
15-50884755-T-A c.3677A>T p.Q1226L Missense 26/39 - 1
15-50884760-T-A c.3672A>T p.S1224= Synonymous 26/39 - 1
15-50884760-T-C c.3672A>G p.S1224= Synonymous 26/39 - 1
15-50884760-T-G c.3672A>C p.S1224= Synonymous 26/39 - 1
15-50884761-G-C c.3671C>G p.S1224* Nonsense 26/39 - 1
15-50884761-G-T c.3671C>A p.S1224* Nonsense 26/39 - 2
15-50884762-A-C c.3670T>G p.S1224A Missense 26/39 - 2
15-50884763-TCT-ATG c.3667_3669delinsCAT p.R1223H Missense 26/39 - 2
15-50884772-G-T c.3660C>A p.Y1220* Nonsense 26/39 - 1
15-50884776-T-A c.3656A>T p.N1219I Missense 26/39 - 1
15-50884782-C-A c.3650G>T p.R1217L Missense 26/39 - 1
15-50884782-C-T c.3650G>A p.R1217H Missense 26/39 - 1
15-50884783-G-A c.3649C>T p.R1217C Missense 26/39 - 4
15-50884795-C-T c.3637G>A p.E1213K Missense 26/39 - 2
15-50884797-T-C c.3635A>G p.K1212R Missense 26/39 - 1
15-50884800-A-G c.3632T>C p.I1211T Missense 26/39 - 1
15-50884818-T-C c.3614A>G p.E1205G Missense 26/39 - 2
15-50885762-G-A c.3608+52C>T - IntronicSNV - 25/38 1
15-50885830-G-A c.3592C>T p.R1198C Missense 25/39 - 6
15-50885830-G-T c.3592C>A p.R1198S Missense 25/39 - 1
15-50885847-C-T c.3575G>A p.G1192E Missense 25/39 - 2
15-50885854-G-A c.3568C>T p.H1190Y Missense 25/39 - 5
15-50885856-A-G c.3566T>C p.F1189S Missense 25/39 - 1
15-50885859-T-C c.3563A>G p.K1188R Missense 25/39 - 2
15-50885864-A-G c.3558T>C p.D1186= Synonymous 25/39 - 2
15-50885884-T-A c.3538A>T p.M1180L Missense 25/39 - 1
15-50885884-T-G c.3538A>C p.M1180L Missense 25/39 - 1
15-50885887-C-T c.3535G>A p.E1179K Missense 25/39 - 1
15-50885890-C-T c.3532G>A p.V1178I Missense 25/39 - 1
15-50885896-G-A c.3526C>T p.Q1176* Nonsense 25/39 - 1
15-50885903-A-C c.3519T>G p.F1173L Missense 25/39 - 1
15-50885903-A-T c.3519T>A p.F1173L Missense 25/39 - 1
15-50885905-A-G c.3517T>C p.F1173L Missense 25/39 - 1
15-50885907-T-C c.3515A>G p.D1172G Missense 25/39 - 2
15-50885911-G-A c.3511C>T p.H1171Y Missense 25/39 - 1
15-50885914-G-A c.3508C>T p.L1170F Missense 25/39 - 2
15-50885944-G-A c.3478C>T p.L1160F Missense 25/39 - 1
15-50885976-G-A c.3476-30C>T - IntronicSNV - 24/38 9
15-50885976-G-T c.3476-30C>A - IntronicSNV - 24/38 9
15-50886020-A-C c.3476-74T>G - IntronicSNV - 24/38 1
15-50886199-G-C c.3476-253C>G - IntronicSNV - 24/38 1
15-50886493-C-T c.3475+133G>A - IntronicSNV - 24/38 4
15-50886628-G-A c.3473C>T p.P1158L Missense 24/39 - 1
15-50886629-G-A c.3472C>T p.P1158S Missense 24/39 - 1
15-50886632-C-A c.3469G>T p.G1157* Nonsense 24/39 - 1
15-50886644-T-C c.3457A>G p.K1153E Missense 24/39 - 1
15-50886647-C-T c.3454G>A p.D1152N Missense 24/39 - 2
15-50886649-T-C c.3452A>G p.K1151R Missense 24/39 - 1
15-50886652-T-A c.3449A>T p.K1150M Missense 24/39 - 1
15-50886654-T-C c.3447A>G p.R1149= Synonymous 24/39 - 1
15-50886656-T-G c.3445A>C p.R1149= Synonymous 24/39 - 1
15-50886657-T-C c.3444A>G p.R1148= Synonymous 24/39 - 1
15-50886659-T-G c.3442A>C p.R1148= Synonymous 24/39 - 1
15-50886659-T-TA c.3441_3442insT p.R1148* Nonsense 24/39 - 1
15-50886668-T-C c.3433A>G p.I1145V Missense 24/39 - 1
15-50886674-AAAACAGAGAAACTATATGGCTAAGAATGATAAGTGG-A c.3391_3426del p.P1131_F1142del InFrameDeletion 24/39 - 1
15-50886680-G-T c.3421C>A p.L1141M Missense 24/39 - 1
15-50886681-A-G c.3420T>C p.S1140= Synonymous 24/39 - 1
15-50886682-G-T c.3419C>A p.S1140Y Missense 24/39 - 2
15-50886692-G-A c.3409C>T p.H1137Y Missense 24/39 - 7
15-50886709-G-A c.3392C>T p.P1131L Missense 24/39 - 1
15-50886712-G-A c.3389C>T p.P1130L Missense 24/39 - 4
15-50886713-G-A c.3388C>T p.P1130S Missense 24/39 - 3
15-50886717-C-A c.3384G>T p.L1128= Synonymous 24/39 - 1
15-50886717-C-G c.3384G>C p.L1128= Synonymous 24/39 - 1
15-50886717-C-T c.3384G>A p.L1128= Synonymous 24/39 - 1
15-50886719-G-A c.3382C>T p.L1128= Synonymous 24/39 - 2
15-50886721-AAC-A c.3379_3380del p.V1127Sfs*9 Frameshift 24/39 - 1
15-50886728-T-G c.3373A>C p.K1125Q Missense 24/39 - 2
15-50886729-C-A c.3372G>T p.E1124D Missense 24/39 - 1
15-50886729-C-G c.3372G>C p.E1124D Missense 24/39 - 1
15-50886737-A-T c.3364T>A p.Y1122N Missense 24/39 - 1
15-50886756-AC-TT c.3344_3345delinsAA p.R1115Q Missense 24/39 - 3
15-50886757-C-T c.3344G>A p.R1115H Missense 24/39 - 1
15-50886761-G-A c.3340C>T p.Q1114* Nonsense 24/39 - 1
15-50886767-T-G c.3334A>C p.K1112Q Missense 24/39 - 4
15-50886769-CA-GC c.3331_3332delinsGC p.W1111A Missense 24/39 - 1
15-50886771-T-C c.3330A>G p.V1110= Synonymous 24/39 - 2
15-50886772-A-G c.3329T>C p.V1110A Missense 24/39 - 1
15-50886773-C-T c.3328G>A p.V1110I Missense 24/39 - 1
15-50886779-T-G c.3322A>C p.N1108H Missense 24/39 - 1
15-50886780-GGA-CTC c.3319_3321delinsGAG p.S1107E Missense 24/39 - 3
15-50886780-GGA-CTT c.3319_3321delinsAAG p.S1107K Missense 24/39 - 1
15-50886780-GGA-TTG c.3319_3321delinsCAA p.S1107Q Missense 24/39 - 1
15-50886781-G-A c.3320C>T p.S1107F Missense 24/39 - 2
15-50886781-GA-CG c.3319_3320delinsCG p.S1107R Missense 24/39 - 2
15-50886781-GA-TC c.3319_3320inv p.S1107D Missense 24/39 - 1
15-50886781-G-C c.3320C>G p.S1107C Missense 24/39 - 1
15-50886782-A-C c.3319T>G p.S1107A Missense 24/39 - 1
15-50886782-A-T c.3319T>A p.S1107T Missense 24/39 - 1
15-50886788-C-G c.3313G>C p.A1105P Missense 24/39 - 2
15-50886807-ATT-CTC c.3292_3294delinsGAG p.N1098E Missense 24/39 - 1
15-50886807-ATT-TTG c.3292_3294delinsCAA p.N1098Q Missense 24/39 - 2
15-50886808-TT-GC c.3292_3293delinsGC p.N1098A Missense 24/39 - 1
15-50886809-T-C c.3292A>G p.N1098D Missense 24/39 - 1
15-50886972-A-C c.3291-162T>G - IntronicSNV - 23/38 2
15-50888452-TT-GC c.3289_3290delinsGC p.N1097A Missense 23/39 - 1
15-50888457-A-G c.3285T>C p.F1095= Synonymous 23/39 - 1
15-50888454-G-GA c.3287dup p.N1097Qfs*28 Frameshift 23/39 - 1
15-50888464-A-G c.3278T>C p.I1093T Missense 23/39 - 3
15-50888467-A-G c.3275T>C p.L1092P Missense 23/39 - 1
15-50888468-G-C c.3274C>G p.L1092V Missense 23/39 - 1
15-50888470-AG-GC c.3271_3272delinsGC p.L1091A Missense 23/39 - 1
15-50888473-TT-AA c.3268_3269inv p.N1090F Missense 23/39 - 1
15-50888484-G-A c.3258C>T p.I1086= Synonymous 23/39 - 1
15-50888488-T-A c.3254A>T p.Y1085F Missense 23/39 - 1
15-50888488-T-G c.3254A>C p.Y1085S Missense 23/39 - 1
15-50888496-A-G c.3246T>C p.F1082= Synonymous 23/39 - 1
15-50888497-A-C c.3245T>G p.F1082C Missense 23/39 - 1
15-50888499-G-A c.3243C>T p.L1081= Synonymous 23/39 - 1
15-50888499-G-C c.3243C>G p.L1081= Synonymous 23/39 - 1
15-50888499-G-T c.3243C>A p.L1081= Synonymous 23/39 - 1
15-50888501-G-A c.3241C>T p.L1081F Missense 23/39 - 3
15-50888504-A-G c.3238T>C p.Y1080H Missense 23/39 - 1
15-50888505-G-A c.3237C>T p.V1079= Synonymous 23/39 - 1
15-50888505-G-C c.3237C>G p.V1079= Synonymous 23/39 - 1
15-50888505-G-T c.3237C>A p.V1079= Synonymous 23/39 - 1
15-50888513-G-A c.3229C>T p.Q1077* Nonsense 23/39 - 1
15-50888518-A-G c.3224T>C p.F1075S Missense 23/39 - 1
15-50888521-G-A c.3221C>T p.P1074L Missense 23/39 - 4
15-50888522-G-T c.3220C>A p.P1074T Missense 23/39 - 1
15-50888528-A-C c.3214T>G p.L1072V Missense 23/39 - 1
15-50888530-C-A c.3212G>T p.W1071L Missense 23/39 - 1
15-50888536-C-T c.3206G>A p.G1069E Missense 23/39 - 1
15-50888539-G-A c.3203C>T p.P1068L Missense 23/39 - 1
15-50888542-C-T c.3200G>A p.G1067D Missense 23/39 - 1
15-50888545-C-G c.3197G>C p.C1066S Missense 23/39 - 1
15-50888546-A-T c.3196T>A p.C1066S Missense 23/39 - 1
15-50888551-T-C c.3191A>G p.Q1064R Missense 23/39 - 1
15-50888556-G-A c.3186C>T p.I1062= Synonymous 23/39 - 4
15-50888564-A-G c.3178T>C p.S1060P Missense 23/39 - 1
15-50888565-ATC-TTG c.3175_3177delinsCAA p.D1059Q Missense 23/39 - 1
15-50888566-T-G c.3176A>C p.D1059A Missense 23/39 - 2
15-50888568-A-G c.3174T>C p.N1058= Synonymous 23/39 - 8
15-50888574-A-G c.3168T>C p.C1056= Synonymous 23/39 - 1
15-50888575-C-G c.3167G>C p.C1056S Missense 23/39 - 1
15-50888576-A-G c.3166T>C p.C1056R Missense 23/39 - 1
15-50888576-A-T c.3166T>A p.C1056S Missense 23/39 - 1
15-50888572-GCA-G c.3168_3169del p.A1057Kfs*2 Frameshift 23/39 22/38 1
15-50888578-A-G c.3164T>C p.V1055A Missense 23/39 - 1
15-50888619-A-G c.3164-41T>C - IntronicSNV - 22/38 8
15-50888619-A-T c.3164-41T>A - IntronicSNV - 22/38 8
15-50888758-A-G c.3164-180T>C - IntronicSNV - 22/38 1
15-50889624-G-C c.3164-1046C>G - IntronicSNV - 22/38 1
15-50890955-A-G c.3163+364T>C - IntronicSNV - 22/38 1
15-50891160-T-C c.3163+159A>G - IntronicSNV - 22/38 1
15-50891320-A-C c.3162T>G p.D1054E Missense 22/39 - 3
15-50891320-A-T c.3162T>A p.D1054E Missense 22/39 - 3
15-50891321-T-G c.3161A>C p.D1054A Missense 22/39 - 7
15-50891322-C-A c.3160G>T p.D1054Y Missense 22/39 - 1
15-50891327-T-G c.3155A>C p.E1052A Missense 22/39 - 3
15-50891328-C-A c.3154G>T p.E1052* Nonsense 22/39 - 2
15-50891328-C-G c.3154G>C p.E1052Q Missense 22/39 - 2
15-50891328-C-T c.3154G>A p.E1052K Missense 22/39 - 4
15-50891336-TA-GG c.3145_3146delinsCC p.Y1049P Missense 22/39 - 1
15-50891341-T-A c.3141A>T p.E1047D Missense 22/39 - 1
15-50891341-T-G c.3141A>C p.E1047D Missense 22/39 - 1
15-50891342-T-G c.3140A>C p.E1047A Missense 22/39 - 2
15-50891343-C-G c.3139G>C p.E1047Q Missense 22/39 - 11
15-50891343-C-T c.3139G>A p.E1047K Missense 22/39 - 5
15-50891345-C-T c.3137G>A p.G1046D Missense 22/39 - 1
15-50891355-T-C c.3127A>G p.M1043V Missense 22/39 - 1
15-50891363-G-C c.3119C>G p.P1040R Missense 22/39 - 2
15-50891365-GTG-CAT c.3115_3117delinsATG p.H1039M Missense 22/39 - 1
15-50891365-GTG-CTC c.3115_3117delinsGAG p.H1039E Missense 22/39 - 1
15-50891373-C-A c.3109G>T p.V1037F Missense 22/39 - 1
15-50891373-C-T c.3109G>A p.V1037I Missense 22/39 - 1
15-50891375-A-G c.3107T>C p.I1036T Missense 22/39 - 5
15-50891379-C-A c.3103G>T p.D1035Y Missense 22/39 - 2
15-50891379-C-T c.3103G>A p.D1035N Missense 22/39 - 1
15-50891384-G-C c.3098C>G p.A1033G Missense 22/39 - 1
15-50891387-A-C c.3095T>G p.L1032R Missense 22/39 - 1
15-50891403-C-A c.3079G>T p.A1027S Missense 22/39 - 1
15-50891412-G-A c.3070C>T p.P1024S Missense 22/39 - 2
15-50891423-G-A c.3059C>T p.A1020V Missense 22/39 - 1
15-50891424-C-T c.3058G>A p.A1020T Missense 22/39 - 1
15-50891425-C-G c.3057G>C p.K1019N Missense 22/39 - 1
15-50891429-C-A c.3053G>T p.R1018I Missense 22/39 - 3
15-50891436-C-T c.3046G>A p.V1016I Missense 22/39 - 1
15-50891444-C-A c.3038G>T p.S1013I Missense 22/39 - 1
15-50891448-G-A c.3034C>T p.L1012F Missense 22/39 - 1
15-50891457-G-A c.3025C>T p.L1009F Missense 22/39 - 2
15-50891461-C-A c.3021G>T p.M1007I Missense 22/39 - 1
15-50891461-C-G c.3021G>C p.M1007I Missense 22/39 - 1
15-50891461-C-T c.3021G>A p.M1007I Missense 22/39 - 1
15-50891464-A-C c.3018T>G p.I1006M Missense 22/39 - 5
15-50891477-T-C c.3005A>G p.Y1002C Missense 22/39 - 5
15-50891479-G-C c.3003C>G p.F1001L Missense 22/39 - 1
15-50891479-G-T c.3003C>A p.F1001L Missense 22/39 - 1
15-50891481-A-G c.3001T>C p.F1001L Missense 22/39 - 1
15-50891483-A-G c.2999T>C p.M1000T Missense 22/39 - 2
15-50891484-T-C c.2998A>G p.M1000V Missense 22/39 - 1
15-50891490-C-T c.2992G>A p.A998T Missense 22/39 - 2
15-50891493-C-A c.2989G>T p.V997L Missense 22/39 - 2
15-50891493-C-G c.2989G>C p.V997L Missense 22/39 - 2
15-50891790-G-T c.2989-297C>A - IntronicSNV - 21/38 1
15-50893114-G-A c.2989-1621C>T - IntronicSNV - 21/38 1
15-50893114-G-T c.2989-1621C>A - IntronicSNV - 21/38 1
15-50896939-T-A c.2988+124A>T - IntronicSNV - 21/38 1
15-50897064-A-G c.2987T>C p.M996T Missense 21/39 - 1
15-50897065-T-A c.2986A>T p.M996L Missense 21/39 - 3
15-50897065-T-G c.2986A>C p.M996L Missense 21/39 - 3
15-50897070-C-A c.2981G>T p.G994V Missense 21/39 - 1
15-50897070-C-T c.2981G>A p.G994E Missense 21/39 - 3
15-50897074-T-C c.2977A>G p.I993V Missense 21/39 - 1
15-50897078-C-A c.2973G>T p.M991I Missense 21/39 - 1
15-50897079-AT-GC c.2971_2972delinsGC p.M991A Missense 21/39 - 1
15-50897081-TAC-CAT c.2968_2970delinsATG p.V990M Missense 21/39 - 3
15-50897092-C-G c.2959G>C p.G987R Missense 21/39 - 1
15-50897092-C-T c.2959G>A p.G987R Missense 21/39 - 1
15-50897096-C-A c.2955G>T p.Q985H Missense 21/39 - 3
15-50897096-C-G c.2955G>C p.Q985H Missense 21/39 - 2
15-50897100-T-C c.2951A>G p.Q984R Missense 21/39 - 3
15-50897107-C-T c.2944G>A p.V982I Missense 21/39 - 1
15-50897109-G-A c.2942C>T p.A981V Missense 21/39 - 1
15-50897109-GC-AG c.2941_2942delinsCT p.A981L Missense 21/39 - 1
15-50897122-G-T c.2929C>A p.L977I Missense 21/39 - 2
15-50897127-C-A c.2924G>T p.R975L Missense 21/39 - 1
15-50897127-C-T c.2924G>A p.R975H Missense 21/39 - 4
15-50897128-G-A c.2923C>T p.R975C Missense 21/39 - 3
15-50897135-C-A c.2916G>T p.W972C Missense 21/39 - 2
15-50897135-C-G c.2916G>C p.W972C Missense 21/39 - 2
15-50897136-CA-GC c.2914_2915delinsGC p.W972A Missense 21/39 - 1
15-50897139-AA-GC c.2911_2912delinsGC p.F971A Missense 21/39 - 1
15-50897139-A-C c.2912T>G p.F971C Missense 21/39 - 1
15-50897143-T-C c.2908A>G p.I970V Missense 21/39 - 1
15-50897161-T-G c.2890A>C p.I964L Missense 21/39 - 3
15-50897169-C-T c.2882G>A p.G961E Missense 21/39 - 2
15-50897172-G-A c.2879C>T p.A960V Missense 21/39 - 1
15-50897176-C-A c.2875G>T p.V959L Missense 21/39 - 1
15-50897178-A-T c.2873T>A p.F958Y Missense 21/39 - 1
15-50897179-A-G c.2872T>C p.F958L Missense 21/39 - 6
15-50897187-T-G c.2864A>C p.N955T Missense 21/39 - 1
15-50897188-T-C c.2863A>G p.N955D Missense 21/39 - 1
15-50897191-C-A c.2860G>T p.D954Y Missense 21/39 - 1
15-50897191-C-G c.2860G>C p.D954H Missense 21/39 - 1
15-50897196-GC-AT c.2854_2855delinsAT p.A952I Missense 21/39 - 1
15-50897200-T-A c.2851A>T p.N951Y Missense 21/39 - 1
15-50897202-G-A c.2849C>T p.A950V Missense 21/39 - 1
15-50897202-G-T c.2849C>A p.A950E Missense 21/39 - 1
15-50897204-A-G c.2847T>C p.F949= Synonymous 21/39 - 1
15-50897205-A-T c.2846T>A p.F949Y Missense 21/39 - 6
15-50897217-G-A c.2834C>T p.A945V Missense 21/39 - 1
15-50897226-C-G c.2825G>C p.R942T Missense 21/39 - 1
15-50897259-G-T c.2792C>A p.A931D Missense 21/39 - 1
15-50897260-C-A c.2791G>T p.A931S Missense 21/39 - 1
15-50897260-C-T c.2791G>A p.A931T Missense 21/39 - 2
15-50897263-T-G c.2788A>C p.I930L Missense 21/39 - 2
15-50897284-A-G c.2767T>C p.Y923H Missense 21/39 - 4
15-50897287-C-T c.2764G>A p.D922N Missense 21/39 - 1
15-50897299-C-A c.2752G>T p.V918L Missense 21/39 - 1
15-50897299-C-G c.2752G>C p.V918L Missense 21/39 - 1
15-50897300-T-A c.2751A>T p.K917N Missense 21/39 - 1
15-50897300-T-G c.2751A>C p.K917N Missense 21/39 - 1
15-50897306-C-A c.2745G>T p.K915N Missense 21/39 - 2
15-50897306-C-G c.2745G>C p.K915N Missense 21/39 - 3
15-50897311-G-A c.2740C>T p.Q914* Nonsense 21/39 - 1
15-50897311-G-C c.2740C>G p.Q914E Missense 21/39 - 1
15-50897311-G-T c.2740C>A p.Q914K Missense 21/39 - 4
15-50897325-G-A c.2726C>T p.A909V Missense 21/39 - 1
15-50897326-C-G c.2725G>C p.A909P Missense 21/39 - 1
15-50897333-CAT-C c.2716_2717del p.M906Vfs*2 Frameshift 21/39 - 1
15-50897673-T-C c.2710-332A>G - IntronicSNV - 20/38 1
15-50899101-CA-C c.2709+295del - IntronicDeletion - 20/38 1
15-50899211-C-T c.2709+186G>A - IntronicSNV - 20/38 3
15-50899309-C-A c.2709+88G>T - IntronicSNV - 20/38 7
15-50899312-C-G c.2709+85G>C - IntronicSNV - 20/38 2
15-50899312-C-T c.2709+85G>A - IntronicSNV - 20/38 1
15-50899397-C-A c.2709G>T p.E903D Missense 20/39 - 1
15-50899397-C-G c.2709G>C p.E903D Missense 20/39 - 1
15-50899401-C-T c.2705G>A p.R902H Missense 20/39 - 1
15-50899402-G-A c.2704C>T p.R902C Missense 20/39 - 4
15-50899415-G-A c.2691C>T p.A897= Synonymous 20/39 - 4
15-50899416-G-A c.2690C>T p.A897V Missense 20/39 - 1
15-50899421-A-C c.2685T>G p.T895= Synonymous 20/39 - 2
15-50899421-A-G c.2685T>C p.T895= Synonymous 20/39 - 2
15-50899421-AG-CA c.2684_2685delinsTG p.T895M Missense 20/39 - 1
15-50899421-A-T c.2685T>A p.T895= Synonymous 20/39 - 2
15-50899429-T-C c.2677A>G p.I893V Missense 20/39 - 1
15-50899444-T-G c.2662A>C p.I888L Missense 20/39 - 1
15-50899447-A-T c.2659T>A p.W887R Missense 20/39 - 1
15-50899455-A-C c.2651T>G p.V884G Missense 20/39 - 1
15-50899476-T-C c.2630A>G p.Q877R Missense 20/39 - 1
15-50899477-G-T c.2629C>A p.Q877K Missense 20/39 - 1
15-50899480-C-A c.2626G>T p.V876L Missense 20/39 - 2
15-50899483-G-C c.2623C>G p.L875V Missense 20/39 - 2
15-50899501-G-C c.2605C>G p.L869V Missense 20/39 - 1
15-50899507-G-A c.2599C>T p.L867= Synonymous 20/39 - 2
15-50899508-A-G c.2598T>C p.F866= Synonymous 20/39 - 1
15-50899520-T-C c.2586A>G p.A862= Synonymous 20/39 - 1
15-50899616-A-C c.2581-91T>G - IntronicSNV - 19/38 5
15-50899616-A-G c.2581-91T>C - IntronicSNV - 19/38 5
15-50900606-G-C c.2581-1081C>G - IntronicSNV - 19/38 1
15-50901776-A-G c.2580+2T>C - IntronicSNV - 19/38 1
15-50901778-C-A c.2580G>T p.T860= Synonymous 19/39 - 1
15-50901778-C-G c.2580G>C p.T860= Synonymous 19/39 - 1
15-50901778-C-T c.2580G>A p.T860= Synonymous 19/39 - 1
15-50901779-G-A c.2579C>T p.T860M Missense 19/39 - 4
15-50901794-T-A c.2564A>T p.K855I Missense 19/39 - 2
15-50901805-T-A c.2553A>T p.A851= Synonymous 19/39 - 1
15-50901805-T-C c.2553A>G p.A851= Synonymous 19/39 - 1
15-50901805-T-G c.2553A>C p.A851= Synonymous 19/39 - 1
15-50901806-G-T c.2552C>A p.A851E Missense 19/39 - 1
15-50901807-C-A c.2551G>T p.A851S Missense 19/39 - 5
15-50901810-G-A c.2548C>T p.H850Y Missense 19/39 - 2
15-50901813-A-G c.2545T>C p.Y849H Missense 19/39 - 1
15-50901815-A-T c.2543T>A p.F848Y Missense 19/39 - 1
15-50901824-A-T c.2534T>A p.F845Y Missense 19/39 - 4
15-50901825-A-C c.2533T>G p.F845V Missense 19/39 - 3
15-50901830-C-T c.2528G>A p.R843Q Missense 19/39 - 7
15-50901831-G-A c.2527C>T p.R843* Nonsense 19/39 - 1
15-50901833-G-A c.2525C>T p.T842M Missense 19/39 - 2
15-50901845-T-C c.2513A>G p.K838R Missense 19/39 - 1
15-50901844-C-CT c.2513dup p.L839Afs*21 Frameshift 19/39 - 1
15-50901851-G-A c.2507C>T p.S836L Missense 19/39 - 1
15-50901858-T-C c.2500A>G p.M834V Missense 19/39 - 1
15-50901867-C-G c.2491G>C p.E831Q Missense 19/39 - 1
15-50901870-T-C c.2488A>G p.M830V Missense 19/39 - 6
15-50901871-C-A c.2487G>T p.E829D Missense 19/39 - 1
15-50901871-C-G c.2487G>C p.E829D Missense 19/39 - 1
15-50901876-T-G c.2482A>C p.N828H Missense 19/39 - 1
15-50901881-C-T c.2477G>A p.G826E Missense 19/39 - 1
15-50901882-C-T c.2476G>A p.G826R Missense 19/39 - 1
15-50901881-CCTTCATTACTATCCAAAATCCGTACTTCTTTAAACA-C c.2441_2476del p.V814_E825del InFrameDeletion 19/39 - 1
15-50901890-C-T c.2468G>A p.S823N Missense 19/39 - 1
15-50901894-C-A c.2464G>T p.D822Y Missense 19/39 - 1
15-50901895-CA-C c.2462del p.L821Wfs*14 Frameshift 19/39 - 1
15-50901901-CCG-ACA c.2455_2457delinsTGT p.R819C Missense 19/39 - 1
15-50901901-C-T c.2457G>A p.R819= Synonymous 19/39 - 1
15-50901910-T-C c.2448A>G p.K816= Synonymous 19/39 - 1
15-50901911-T-C c.2447A>G p.K816R Missense 19/39 - 1
15-50901916-C-T c.2442G>A p.V814= Synonymous 19/39 - 1
15-50901930-A-T c.2437-9T>A - IntronicSNV - 18/38 2
15-50902004-A-T c.2435T>A p.M812K Missense 18/39 - 2
15-50902007-G-A c.2432C>T p.P811L Missense 18/39 - 3
15-50902008-G-A c.2431C>T p.P811S Missense 18/39 - 2
15-50902009-G-A c.2430C>T p.I810= Synonymous 18/39 - 1
15-50902009-GA-AT c.2429_2430delinsAT p.I810N Missense 18/39 - 1
15-50902010-A-G c.2429T>C p.I810T Missense 18/39 - 1
15-50902010-A-T c.2429T>A p.I810N Missense 18/39 - 4
15-50902025-T-C c.2414A>G p.N805S Missense 18/39 - 1
15-50902027-C-G c.2412G>C p.Q804H Missense 18/39 - 1
15-50902028-T-G c.2411A>C p.Q804P Missense 18/39 - 1
15-50902041-C-T c.2398G>A p.E800K Missense 18/39 - 6
15-50902048-A-C c.2391T>G p.D797E Missense 18/39 - 1
15-50902049-T-G c.2390A>C p.D797A Missense 18/39 - 1
15-50902043-CTGTCATCCAT-C c.2386_2395del p.M796Afs*8 Frameshift 18/39 - 1
15-50902055-G-T c.2384C>A p.T795K Missense 18/39 - 1
15-50902056-T-C c.2383A>G p.T795A Missense 18/39 - 1
15-50902065-G-A c.2374C>T p.H792Y Missense 18/39 - 3
15-50902071-C-A c.2368G>T p.D790Y Missense 18/39 - 1
15-50902072-T-C c.2367A>G p.Q789= Synonymous 18/39 - 1
15-50902073-T-G c.2366A>C p.Q789P Missense 18/39 - 2
15-50902076-G-A c.2363C>T p.S788F Missense 18/39 - 3
15-50902078-T-C c.2361A>G p.Q787= Synonymous 18/39 - 2
15-50902081-T-A c.2358A>T p.P786= Synonymous 18/39 - 1
15-50902081-T-C c.2358A>G p.P786= Synonymous 18/39 - 2
15-50902083-G-A c.2356C>T p.P786S Missense 18/39 - 1
15-50902084-G-A c.2355C>T p.I785= Synonymous 18/39 - 3
15-50902084-G-T c.2355C>A p.I785= Synonymous 18/39 - 2
15-50902088-T-A c.2351A>T p.H784L Missense 18/39 - 1
15-50902090-G-T c.2349C>A p.S783= Synonymous 18/39 - 1
15-50902091-G-A c.2348C>T p.S783F Missense 18/39 - 3
15-50902092-A-C c.2347T>G p.S783A Missense 18/39 - 1
15-50902097-T-G c.2342A>C p.E781A Missense 18/39 - 1
15-50902098-C-T c.2341G>A p.E781K Missense 18/39 - 1
15-50902101-C-T c.2338G>A p.A780T Missense 18/39 - 5
15-50902102-C-A c.2337G>T p.K779N Missense 18/39 - 2
15-50902102-C-G c.2337G>C p.K779N Missense 18/39 - 1
15-50902106-G-A c.2333C>T p.T778I Missense 18/39 - 1
15-50902115-T-C c.2324A>G p.E775G Missense 18/39 - 1
15-50902122-G-T c.2317C>A p.L773M Missense 18/39 - 1
15-50902126-T-C c.2313A>G p.I771M Missense 18/39 - 2
15-50902127-A-G c.2312T>C p.I771T Missense 18/39 - 2
15-50902133-G-T c.2306C>A p.P769H Missense 18/39 - 1
15-50902134-G-A c.2305C>T p.P769S Missense 18/39 - 1
15-50902135-T-A c.2304A>T p.P768= Synonymous 18/39 - 2
15-50902135-T-C c.2304A>G p.P768= Synonymous 18/39 - 2
15-50902135-T-G c.2304A>C p.P768= Synonymous 18/39 - 2
15-50902150-T-A c.2289A>T p.L763= Synonymous 18/39 - 1
15-50902150-T-C c.2289A>G p.L763= Synonymous 18/39 - 1
15-50902150-T-G c.2289A>C p.L763= Synonymous 18/39 - 1
15-50902152-G-A c.2287C>T p.L763= Synonymous 18/39 - 1
15-50902153-T-C c.2286A>G p.I762M Missense 18/39 - 1
15-50902158-C-A c.2281G>T p.V761F Missense 18/39 - 1
15-50903300-G-A c.2270C>T p.S757F Missense 17/39 - 3
15-50903304-T-C c.2266A>G p.N756D Missense 17/39 - 1
15-50903311-C-A c.2259G>T p.M753I Missense 17/39 - 1
15-50903311-C-G c.2259G>C p.M753I Missense 17/39 - 1
15-50903311-C-T c.2259G>A p.M753I Missense 17/39 - 1
15-50903314-A-C c.2256T>G p.N752K Missense 17/39 - 1
15-50903314-A-T c.2256T>A p.N752K Missense 17/39 - 1
15-50903315-T-C c.2255A>G p.N752S Missense 17/39 - 1
15-50903317-C-A c.2253G>T p.L751= Synonymous 17/39 - 1
15-50903317-CAG-AAA c.2251_2253delinsTTT p.L751F Missense 17/39 - 2
15-50903317-C-G c.2253G>C p.L751= Synonymous 17/39 - 1
15-50903317-C-T c.2253G>A p.L751= Synonymous 17/39 - 1
15-50903319-G-A c.2251C>T p.L751= Synonymous 17/39 - 1
15-50903321-C-T c.2249G>A p.R750K Missense 17/39 - 1
15-50903324-C-A c.2246G>T p.G749V Missense 17/39 - 1
15-50903329-C-A c.2241G>T p.W747C Missense 17/39 - 1
15-50903329-C-T c.2241G>A p.W747* Nonsense 17/39 - 1
15-50903336-T-A c.2234A>T p.D745V Missense 17/39 - 1
15-50903340-A-C c.2230T>G p.S744A Missense 17/39 - 1
15-50903348-AT-GC c.2221_2222delinsGC p.M741A Missense 17/39 - 1
15-50903356-A-G c.2214T>C p.C738= Synonymous 17/39 - 1
15-50903357-CA-GC c.2212_2213delinsGC p.C738A Missense 17/39 - 1
15-50903357-C-G c.2213G>C p.C738S Missense 17/39 - 1
15-50903358-A-T c.2212T>A p.C738S Missense 17/39 - 1
15-50903370-C-A c.2200G>T p.V734L Missense 17/39 - 1
15-50903370-C-G c.2200G>C p.V734L Missense 17/39 - 1
15-50903387-G-C c.2183C>G p.S728* Nonsense 17/39 - 1
15-50903387-G-T c.2183C>A p.S728* Nonsense 17/39 - 1
15-50903403-T-G c.2167A>C p.K723Q Missense 17/39 - 2
15-50903408-CA-GC c.2161_2162delinsGC p.C721A Missense 17/39 - 1
15-50903408-C-G c.2162G>C p.C721S Missense 17/39 - 1
15-50903409-A-C c.2161T>G p.C721G Missense 17/39 - 4
15-50903409-A-T c.2161T>A p.C721S Missense 17/39 - 1
15-50903411-G-A c.2159C>T p.T720I Missense 17/39 - 3
15-50903411-G-C c.2159C>G p.T720S Missense 17/39 - 5
15-50903412-T-A c.2158A>T p.T720S Missense 17/39 - 4
15-50903414-G-A c.2156C>T p.S719L Missense 17/39 - 2
15-50903429-T-G c.2141A>C p.K714T Missense 17/39 - 1
15-50903441-G-A c.2129C>T p.T710I Missense 17/39 - 2
15-50903446-C-T c.2124G>A p.L708= Synonymous 17/39 - 1
15-50903448-A-G c.2122T>C p.L708= Synonymous 17/39 - 1
15-50903450-T-G c.2120A>C p.K707T Missense 17/39 - 4
15-50903451-T-A c.2119A>T p.K707* Nonsense 17/39 - 1
15-50903454-T-C c.2116A>G p.M706V Missense 17/39 - 2
15-50903457-C-A c.2113G>T p.A705S Missense 17/39 - 3
15-50903466-C-T c.2104G>A p.E702K Missense 17/39 - 1
15-50903472-G-A c.2098C>T p.Q700* Nonsense 17/39 - 1
15-50903472-G-C c.2098C>G p.Q700E Missense 17/39 - 1
15-50903479-G-A c.2091C>T p.S697= Synonymous 17/39 - 3
15-50903479-G-C c.2091C>G p.S697= Synonymous 17/39 - 2
15-50903479-G-T c.2091C>A p.S697= Synonymous 17/39 - 2
15-50903485-T-A c.2085A>T p.E695D Missense 17/39 - 1
15-50903485-T-G c.2085A>C p.E695D Missense 17/39 - 1
15-50903487-C-G c.2083G>C p.E695Q Missense 17/39 - 1
15-50903487-C-T c.2083G>A p.E695K Missense 17/39 - 1
15-50903488-T-A c.2082A>T p.L694F Missense 17/39 - 1
15-50903488-T-G c.2082A>C p.L694F Missense 17/39 - 1
15-50903491-T-A c.2079A>T p.L693F Missense 17/39 - 1
15-50903491-T-G c.2079A>C p.L693F Missense 17/39 - 1
15-50903499-C-T c.2071G>A p.V691I Missense 17/39 - 1
15-50903511-C-A c.2059G>T p.G687C Missense 17/39 - 1
15-50903511-C-T c.2059G>A p.G687S Missense 17/39 - 1
15-50903516-T-G c.2054A>C p.D685A Missense 17/39 - 1
15-50903600-C-T c.2052-82G>A - IntronicSNV - 16/38 6
15-50904632-A-T c.2051+114T>A - IntronicSNV - 16/38 2
15-50904749-G-C c.2048C>G p.S683C Missense 16/39 - 1
15-50904761-A-T c.2036T>A p.L679Q Missense 16/39 - 1
15-50904767-T-A c.2030A>T p.E677V Missense 16/39 - 1
15-50904768-C-T c.2029G>A p.E677K Missense 16/39 - 1
15-50904771-A-C c.2026T>G p.S676A Missense 16/39 - 1
15-50904775-A-C c.2022T>G p.D674E Missense 16/39 - 1
15-50904775-A-T c.2022T>A p.D674E Missense 16/39 - 1
15-50904777-C-G c.2020G>C p.D674H Missense 16/39 - 3
15-50904781-CTACCA-C c.2012_2016del p.L671Rfs*2 Frameshift 16/39 - 1
15-50904785-AG-GC c.2011_2012delinsGC p.L671A Missense 16/39 - 1
15-50904787-G-C c.2010C>G p.D670E Missense 16/39 - 1
15-50904787-G-T c.2010C>A p.D670E Missense 16/39 - 1
15-50904788-T-G c.2009A>C p.D670A Missense 16/39 - 1
15-50904804-C-T c.1993G>A p.E665K Missense 16/39 - 1
15-50904805-A-G c.1992T>C p.Y664= Synonymous 16/39 - 1
15-50904815-G-A c.1982C>T p.S661L Missense 16/39 - 2
15-50904817-AC-TT c.1979_1980delinsAA p.R660Q Missense 16/39 - 1
15-50904818-C-T c.1979G>A p.R660H Missense 16/39 - 1
15-50904819-G-A c.1978C>T p.R660C Missense 16/39 - 2
15-50904819-G-T c.1978C>A p.R660S Missense 16/39 - 1
15-50904826-C-T c.1971G>A p.K657= Synonymous 16/39 - 1
15-50904835-AA-CT c.1961_1962delinsAG p.V654E Missense 16/39 - 1
15-50904842-G-A c.1955C>T p.A652V Missense 16/39 - 1
15-50904852-T-C c.1945A>G p.M649V Missense 16/39 - 3
15-50904864-C-A c.1933G>T p.G645C Missense 16/39 - 3
15-50904874-T-TA c.1922dup p.L641Ffs*6 Frameshift 16/39 - 1
15-50904882-G-T c.1915C>A p.R639S Missense 16/39 - 1
15-50904883-G-A c.1914C>T p.A638= Synonymous 16/39 - 2
15-50904883-G-C c.1914C>G p.A638= Synonymous 16/39 - 1
15-50904883-G-T c.1914C>A p.A638= Synonymous 16/39 - 1
15-50904892-C-A c.1905G>T p.Q635H Missense 16/39 - 2
15-50904892-C-CAT c.1904_1905insAT p.V636Wfs*19 Frameshift 16/39 - 1
15-50904892-C-G c.1905G>C p.Q635H Missense 16/39 - 1
15-50904895-C-CAT c.1901_1902insAT p.Q635Cfs*20 Frameshift 16/39 - 1
15-50904896-C-CTTGTTTGTTTGTTTTTGCTTGCCTGCTTGCTTTTTTG c.1900_1901insCAAAAAAGCAAGCAGGCAAGCAAAAACAAACAAACAA p.R634Tfs*25 Frameshift 16/39 - 1
15-50904899-T-TTTGTTTGTTTGTTTTTGCTTGCCTGCTTGCTTTTTTG c.1897_1898insCAAAAAAGCAAGCAGGCAAGCAAAAACAAACAAACAA p.K633Tfs*26 Frameshift 16/39 - 1
15-50904908-C-A c.1889G>T p.C630F Missense 16/39 - 1
15-50904909-A-G c.1888T>C p.C630R Missense 16/39 - 1
15-50904913-C-T c.1884G>A p.W628* Nonsense 16/39 - 1
15-50904914-C-T c.1883G>A p.W628* Nonsense 16/39 - 1
15-50904919-T-A c.1878A>T p.L626F Missense 16/39 - 2
15-50904919-T-G c.1878A>C p.L626F Missense 16/39 - 2
15-50904924-G-A c.1873C>T p.L625F Missense 16/39 - 1
15-50904928-A-C c.1869T>G p.N623K Missense 16/39 - 3
15-50904931-A-C c.1866T>G p.L622= Synonymous 16/39 - 1
15-50904931-A-G c.1866T>C p.L622= Synonymous 16/39 - 1
15-50904931-A-T c.1866T>A p.L622= Synonymous 16/39 - 1
15-50904932-A-G c.1865T>C p.L622P Missense 16/39 - 1
15-50904933-G-A c.1864C>T p.L622F Missense 16/39 - 2
15-50904936-G-T c.1861C>A p.P621T Missense 16/39 - 1
15-50904942-G-A c.1855C>T p.P619S Missense 16/39 - 1
15-50904946-GCG-TCA c.1849_1851delinsTGA p.R617* Nonsense 16/39 - 1
15-50904947-C-T c.1850G>A p.R617H Missense 16/39 - 2
15-50904948-G-A c.1849C>T p.R617C Missense 16/39 - 2
15-50904950-TTGG-T c.1844_1846del p.T615del InFrameDeletion 16/39 - 1
15-50904956-T-C c.1841A>G p.E614G Missense 16/39 - 1
15-50904961-A-G c.1836T>C p.D612= Synonymous 16/39 - 1
15-50904978-T-C c.1819A>G p.I607V Missense 16/39 - 1
15-50904981-C-T c.1816G>A p.E606K Missense 16/39 - 1
15-50904985-T-A c.1812A>T p.K604N Missense 16/39 - 1
15-50904985-T-G c.1812A>C p.K604N Missense 16/39 - 2
15-50904994-T-C c.1803A>G p.K601= Synonymous 16/39 - 1
15-50905000-C-A c.1797G>T p.K599N Missense 16/39 - 1
15-50905000-C-G c.1797G>C p.K599N Missense 16/39 - 2
15-50905003-TC-GT c.1793_1794delinsAC p.G598D Missense 16/39 - 1
15-50905014-T-C c.1783A>G p.M595V Missense 16/39 - 1
15-50905022-T-C c.1775A>G p.D592G Missense 16/39 - 1
15-50905023-C-A c.1774G>T p.D592Y Missense 16/39 - 1
15-50905780-G-A c.1770+124C>T - IntronicSNV - 15/38 3
15-50905905-T-C c.1769A>G p.K590R Missense 15/39 - 1
15-50905906-T-TA c.1767_1768insT p.K590* Nonsense 15/39 - 1
15-50905909-G-A c.1765C>T p.P589S Missense 15/39 - 6
15-50905911-C-T c.1763G>A p.R588Q Missense 15/39 - 4
15-50905916-G-A c.1758C>T p.P586= Synonymous 15/39 - 1
15-50905917-G-A c.1757C>T p.P586L Missense 15/39 - 3
15-50905919-C-T c.1755G>A p.Q585= Synonymous 15/39 - 2
15-50905920-T-G c.1754A>C p.Q585P Missense 15/39 - 1
15-50905923-G-A c.1751C>T p.A584V Missense 15/39 - 1
15-50905926-G-C c.1748C>G p.T583R Missense 15/39 - 8
15-50905927-T-C c.1747A>G p.T583A Missense 15/39 - 1
15-50905928-C-T c.1746G>A p.K582= Synonymous 15/39 - 1
15-50905935-A-G c.1739T>C p.F580S Missense 15/39 - 2
15-50905934-G-C c.1740C>G p.F580L Missense 15/39 - 1
15-50905934-G-T c.1740C>A p.F580L Missense 15/39 - 1
15-50905936-A-G c.1738T>C p.F580L Missense 15/39 - 2
15-50905939-G-A c.1735C>T p.H579Y Missense 15/39 - 6
15-50905945-G-A c.1729C>T p.H577Y Missense 15/39 - 1
15-50905949-C-T c.1725G>A p.M575I Missense 15/39 - 1
15-50905952-T-G c.1722A>C p.K574N Missense 15/39 - 1
15-50905950-AT-A c.1723del p.M575* Frameshift 15/39 - 1
15-50905957-C-T c.1717G>A p.E573K Missense 15/39 - 3
15-50905958-C-A c.1716G>T p.K572N Missense 15/39 - 1
15-50905958-C-G c.1716G>C p.K572N Missense 15/39 - 1
15-50905964-A-T c.1710T>A p.D570E Missense 15/39 - 1
15-50905967-TG-GT c.1706_1707delinsAC p.A569D Missense 15/39 - 1
15-50905971-CT-TG c.1702_1703delinsCA p.R568Q Missense 15/39 - 1
15-50905971-CTA-C c.1701_1702del p.N567Kfs*4 Frameshift 15/39 - 1
15-50905976-G-A c.1698C>T p.G566= Synonymous 15/39 - 1
15-50905976-G-C c.1698C>G p.G566= Synonymous 15/39 - 1
15-50905976-G-T c.1698C>A p.G566= Synonymous 15/39 - 1
15-50905985-T-C c.1689A>G p.E563= Synonymous 15/39 - 1
15-50905987-C-T c.1687G>A p.E563K Missense 15/39 - 2
15-50905990-G-A c.1684C>T p.H562Y Missense 15/39 - 1
15-50905990-G-C c.1684C>G p.H562D Missense 15/39 - 1
15-50905993-T-C c.1681A>G p.S561G Missense 15/39 - 1
15-50905995-T-C c.1679A>G p.K560R Missense 15/39 - 1
15-50905999-G-A c.1675C>T p.R559* Nonsense 15/39 - 3
15-50906007-G-A c.1667C>T p.P556L Missense 15/39 - 1
15-50906013-C-T c.1661G>A p.S554N Missense 15/39 - 2
15-50906014-T-C c.1660A>G p.S554G Missense 15/39 - 1
15-50906015-G-A c.1659C>T p.S553= Synonymous 15/39 - 1
15-50906016-C-T c.1658G>A p.S553N Missense 15/39 - 1
15-50906022-G-A c.1652C>T p.T551I Missense 15/39 - 1
15-50906025-T-C c.1649A>G p.N550S Missense 15/39 - 1
15-50906028-C-T c.1646G>A p.R549Q Missense 15/39 - 1
15-50906031-C-T c.1643G>A p.G548D Missense 15/39 - 1
15-50906033-A-C c.1641T>G p.S547= Synonymous 15/39 - 2
15-50906033-A-G c.1641T>C p.S547= Synonymous 15/39 - 2
15-50906033-A-T c.1641T>A p.S547= Synonymous 15/39 - 2
15-50906034-GA-TC c.1639_1640inv p.S547D Missense 15/39 - 1
15-50906036-C-T c.1638G>A p.R546= Synonymous 15/39 - 2
15-50906038-T-G c.1636A>C p.R546= Synonymous 15/39 - 2
15-50906316-A-G c.1635+4T>C - IntronicSNV - 14/38 1
15-50906322-G-A c.1633C>T p.R545W Missense 14/39 - 4
15-50906329-TCC-GCT c.1624_1626delinsAGC p.G542S Missense 14/39 - 1
15-50906339-C-G c.1616G>C p.S539T Missense 14/39 - 1
15-50906339-CT-AG c.1615_1616inv p.S539L Missense 14/39 - 1
15-50906340-T-A c.1615A>T p.S539C Missense 14/39 - 1
15-50906345-T-C c.1610A>G p.Y537C Missense 14/39 - 2
15-50906346-A-G c.1609T>C p.Y537H Missense 14/39 - 5
15-50906350-T-C c.1605A>G p.L535= Synonymous 14/39 - 1
15-50906352-A-G c.1603T>C p.L535= Synonymous 14/39 - 1
15-50906353-TCG-ACA c.1600_1602delinsTGT p.R534C Missense 14/39 - 1
15-50906354-C-T c.1601G>A p.R534Q Missense 14/39 - 4
15-50906355-G-A c.1600C>T p.R534* Nonsense 14/39 - 1
15-50906360-C-T c.1595G>A p.R532H Missense 14/39 - 1
15-50906361-G-A c.1594C>T p.R532C Missense 14/39 - 4
15-50906368-A-C c.1587T>G p.T529= Synonymous 14/39 - 1
15-50906368-A-G c.1587T>C p.T529= Synonymous 14/39 - 1
15-50906368-A-T c.1587T>A p.T529= Synonymous 14/39 - 1
15-50906373-A-T c.1582T>A p.Y528N Missense 14/39 - 2
15-50906374-G-T c.1581C>A p.T527= Synonymous 14/39 - 1
15-50906377-G-A c.1578C>T p.C526= Synonymous 14/39 - 1
15-50906377-GC-AT c.1577_1578delinsAT p.C526Y Missense 14/39 - 1
15-50906378-C-T c.1577G>A p.C526Y Missense 14/39 - 3
15-50906393-C-T c.1562G>A p.G521E Missense 14/39 - 1
15-50906394-C-G c.1561G>C p.G521R Missense 14/39 - 1
15-50906394-C-T c.1561G>A p.G521R Missense 14/39 - 1
15-50906397-T-A c.1558A>T p.M520L Missense 14/39 - 1
15-50906397-T-G c.1558A>C p.M520L Missense 14/39 - 1
15-50906417-C-G c.1538G>C p.G513A Missense 14/39 - 1
15-50906417-C-T c.1538G>A p.G513E Missense 14/39 - 2
15-50906421-T-C c.1534A>G p.I512V Missense 14/39 - 1
15-50906423-T-A c.1532A>T p.D511V Missense 14/39 - 1
15-50906430-G-C c.1525C>G p.L509V Missense 14/39 - 1
15-50906437-C-A c.1518G>T p.K506N Missense 14/39 - 1
15-50906437-C-G c.1518G>C p.K506N Missense 14/39 - 1
15-50906438-T-G c.1517A>C p.K506T Missense 14/39 - 1
15-50906447-G-A c.1508C>T p.P503L Missense 14/39 - 2
15-50906450-G-A c.1505C>T p.P502L Missense 14/39 - 1
15-50906456-T-C c.1499A>G p.N500S Missense 14/39 - 1
15-50906498-C-G c.1495-38G>C - IntronicSNV - 13/38 1
15-50911865-AT-A c.1494+76del - IntronicDeletion - 13/38 3
15-50911942-C-T c.1494G>A p.Q498= Synonymous 13/39 - 2
15-50911950-C-T c.1486G>A p.V496I Missense 13/39 - 1
15-50911951-G-A c.1485C>T p.D495= Synonymous 13/39 - 2
15-50911955-C-T c.1481G>A p.R494Q Missense 13/39 - 2
15-50911956-G-A c.1480C>T p.R494* Nonsense 13/39 - 4
15-50911962-G-T c.1474C>A p.L492I Missense 13/39 - 1
15-50911979-T-G c.1457A>C p.N486T Missense 13/39 - 1
15-50911983-T-C c.1453A>G p.T485A Missense 13/39 - 1
15-50911986-G-A c.1450C>T p.P484S Missense 13/39 - 1
15-50911987-AC-CT c.1448_1449delinsAG p.G483E Missense 13/39 - 1
15-50911991-T-G c.1445A>C p.Q482P Missense 13/39 - 1
15-50914245-C-CA c.1440+2117dup - IntronicInsertion - 12/38 1
15-50916098-A-G c.1440+265T>C - IntronicSNV - 12/38 1
15-50916363-A-C c.1440T>G p.T480= Synonymous 12/39 - 1
15-50916363-A-G c.1440T>C p.T480= Synonymous 12/39 - 1
15-50916363-A-T c.1440T>A p.T480= Synonymous 12/39 - 1
15-50916364-G-A c.1439C>T p.T480I Missense 12/39 - 1
15-50916369-G-A c.1434C>T p.Y478= Synonymous 12/39 - 1
15-50916384-TCT-ACA c.1417_1419delinsTGT p.R473C Missense 12/39 - 2
15-50916387-C-A c.1416G>T p.P472= Synonymous 12/39 - 1
15-50916387-C-G c.1416G>C p.P472= Synonymous 12/39 - 1
15-50916387-C-T c.1416G>A p.P472= Synonymous 12/39 - 1
15-50916388-G-A c.1415C>T p.P472L Missense 12/39 - 5
15-50916389-G-A c.1414C>T p.P472S Missense 12/39 - 1
15-50916394-G-A c.1409C>T p.T470I Missense 12/39 - 2
15-50916399-G-A c.1404C>T p.F468= Synonymous 12/39 - 4
15-50916403-T-G c.1400A>C p.K467T Missense 12/39 - 2
15-50916410-T-A c.1393A>T p.M465L Missense 12/39 - 1
15-50916410-T-G c.1393A>C p.M465L Missense 12/39 - 1
15-50916420-A-G c.1383T>C p.N461= Synonymous 12/39 - 1
15-50916422-T-A c.1381A>T p.N461Y Missense 12/39 - 1
15-50916427-A-C c.1376T>G p.I459S Missense 12/39 - 1
15-50916427-A-G c.1376T>C p.I459T Missense 12/39 - 2
15-50916433-A-C c.1370T>G p.L457R Missense 12/39 - 1
15-50916446-C-A c.1357G>T p.A453S Missense 12/39 - 1
15-50916451-C-T c.1352G>A p.R451K Missense 12/39 - 1
15-50916466-G-C c.1337C>G p.A446G Missense 12/39 - 1
15-50916467-C-T c.1336G>A p.A446T Missense 12/39 - 1
15-50916470-C-G c.1333G>C p.D445H Missense 12/39 - 1
15-50916473-G-A c.1330C>T p.L444F Missense 12/39 - 1
15-50916475-A-G c.1328T>C p.M443T Missense 12/39 - 1
15-50916479-C-T c.1324G>A p.A442T Missense 12/39 - 1
15-50916485-C-T c.1318G>A p.E440K Missense 12/39 - 1
15-50916511-A-T c.1306-14T>A - IntronicSNV - 11/38 1
15-50920344-A-C c.1305+2T>G - IntronicSNV - 11/38 1
15-50920349-CC-AA c.1301_1302delinsTT p.W434F Missense 11/39 - 1
15-50920353-T-G c.1298A>C p.Q433P Missense 11/39 - 2
15-50920355-C-T c.1296G>A p.Q432= Synonymous 11/39 - 1
15-50920368-A-C c.1283T>G p.F428C Missense 11/39 - 1
15-50920377-T-C c.1274A>G p.N425S Missense 11/39 - 1
15-50920378-T-TA c.1272_1273insT p.N425* Nonsense 11/39 - 1
15-50920400-C-T c.1251G>A p.W417* Nonsense 11/39 - 1
15-50920401-C-T c.1250G>A p.W417* Nonsense 11/39 - 1
15-50920405-C-T c.1246G>A p.A416T Missense 11/39 - 1
15-50920412-A-C c.1239T>G p.L413= Synonymous 11/39 - 1
15-50920423-G-A c.1228C>T p.Q410* Nonsense 11/39 - 1
15-50920423-G-T c.1228C>A p.Q410K Missense 11/39 - 1
15-50920425-T-C c.1226A>G p.D409G Missense 11/39 - 1
15-50920426-C-A c.1225G>T p.D409Y Missense 11/39 - 1
15-50920429-A-G c.1222T>C p.F408L Missense 11/39 - 1
15-50920432-C-T c.1219G>A p.A407T Missense 11/39 - 1
15-50920434-G-C c.1217C>G p.S406C Missense 11/39 - 4
15-50920435-A-G c.1216T>C p.S406P Missense 11/39 - 1
15-50920437-G-C c.1214C>G p.A405G Missense 11/39 - 1
15-50920441-T-G c.1210A>C p.N404H Missense 11/39 - 1
15-50920442-AG-CA c.1208_1209delinsTG p.T403M Missense 11/39 - 1
15-50920444-T-C c.1207A>G p.T403A Missense 11/39 - 2
15-50920616-C-T c.1205-170G>A - IntronicSNV - 10/38 1
15-50921892-A-AT c.1205-1447dup - IntronicInsertion - 10/38 1
15-50922600-C-G c.1204+1014G>C - IntronicSNV - 10/38 3
15-50923613-C-G c.1204+1G>C - IntronicSNV - 10/38 1
15-50923617-T-C c.1201A>G p.K401E Missense 10/39 - 2
15-50923623-G-A c.1195C>T p.L399= Synonymous 10/39 - 1
15-50923625-G-A c.1193C>T p.A398V Missense 10/39 - 1
15-50923628-AG-A c.1190del p.T397Mfs*4 Frameshift 10/39 - 1
15-50923639-T-C c.1179A>G p.V393= Synonymous 10/39 - 1
15-50923640-A-C c.1178T>G p.V393G Missense 10/39 - 1
15-50923642-A-G c.1176T>C p.D392= Synonymous 10/39 - 1
15-50923643-T-A c.1175A>T p.D392V Missense 10/39 - 1
15-50923652-T-G c.1166A>C p.Q389P Missense 10/39 - 1
15-50923654-A-C c.1164T>G p.H388Q Missense 10/39 - 1
15-50923654-A-T c.1164T>A p.H388Q Missense 10/39 - 1
15-50923655-T-C c.1163A>G p.H388R Missense 10/39 - 2
15-50923657-T-C c.1161A>G p.E387= Synonymous 10/39 - 2
15-50923659-C-T c.1159G>A p.E387K Missense 10/39 - 3
15-50923663-TG-AA c.1154_1155delinsTT p.S385F Missense 10/39 - 1
15-50923668-C-T c.1150G>A p.G384R Missense 10/39 - 1
15-50923672-A-G c.1146T>C p.H382= Synonymous 10/39 - 2
15-50923674-G-A c.1144C>T p.H382Y Missense 10/39 - 1
15-50923675-G-A c.1143C>T p.F381= Synonymous 10/39 - 2
15-50923683-T-C c.1135A>G p.T379A Missense 10/39 - 3
15-50923849-T-A c.1132-163A>T - IntronicSNV - 9/38 2
15-50923849-T-C c.1132-163A>G - IntronicSNV - 9/38 2
15-50924956-A-C c.1131+110T>G - IntronicSNV - 9/38 2
15-50924956-A-G c.1131+110T>C - IntronicSNV - 9/38 5
15-50924995-G-A c.1131+71C>T - IntronicSNV - 9/38 6
15-50925072-C-G c.1125G>C p.K375N Missense 9/39 - 1
15-50925076-C-A c.1121G>T p.R374I Missense 9/39 - 1
15-50925076-C-T c.1121G>A p.R374K Missense 9/39 - 3
15-50925081-C-A c.1116G>T p.M372I Missense 9/39 - 1
15-50925083-T-C c.1114A>G p.M372V Missense 9/39 - 1
15-50925084-G-A c.1113C>T p.C371= Synonymous 9/39 - 1
15-50925085-C-T c.1112G>A p.C371Y Missense 9/39 - 1
15-50925092-T-A c.1105A>T p.M369L Missense 9/39 - 2
15-50925098-T-C c.1099A>G p.T367A Missense 9/39 - 1
15-50925099-T-A c.1098A>T p.Q366H Missense 9/39 - 1
15-50925099-T-G c.1098A>C p.Q366H Missense 9/39 - 1
15-50925110-G-T c.1087C>A p.H363N Missense 9/39 - 1
15-50925113-G-A c.1084C>T p.L362F Missense 9/39 - 1
15-50925115-G-T c.1082C>A p.A361E Missense 9/39 - 1
15-50925116-C-T c.1081G>A p.A361T Missense 9/39 - 1
15-50925119-C-T c.1078G>A p.E360K Missense 9/39 - 2
15-50925129-A-G c.1068T>C p.F356= Synonymous 9/39 - 1
15-50925140-T-C c.1057A>G p.T353A Missense 9/39 - 2
15-50925139-GT-G c.1057del p.T353Hfs*16 Frameshift 9/39 - 3
15-50925149-T-C c.1048A>G p.I350V Missense 9/39 - 1
15-50925153-G-A c.1044C>T p.S348= Synonymous 9/39 - 4
15-50925154-G-T c.1043C>A p.S348Y Missense 9/39 - 1
15-50925166-G-T c.1031C>A p.P344H Missense 9/39 - 1
15-50925167-G-A c.1030C>T p.P344S Missense 9/39 - 1
15-50925172-G-A c.1025C>T p.A342V Missense 9/39 - 1
15-50925173-C-T c.1024G>A p.A342T Missense 9/39 - 1
15-50925175-G-A c.1022C>T p.A341V Missense 9/39 - 1
15-50925182-G-A c.1015C>T p.P339S Missense 9/39 - 1
15-50925182-G-T c.1015C>A p.P339T Missense 9/39 - 1
15-50925185-G-A c.1012C>T p.L338F Missense 9/39 - 1
15-50925189-C-A c.1008G>T p.G336= Synonymous 9/39 - 1
15-50925189-C-G c.1008G>C p.G336= Synonymous 9/39 - 1
15-50925189-C-T c.1008G>A p.G336= Synonymous 9/39 - 1
15-50926516-C-T c.1007+63G>A - IntronicSNV - 8/38 2
15-50926523-AAAAT-A c.1007+52_1007+55del - IntronicDeletion - 8/38 3
15-50926579-C-T c.1007G>A p.G336E Missense 8/39 - 1
15-50926585-TC-AT c.1000_1001delinsAT p.E334I Missense 8/39 - 1
15-50926590-T-A c.996A>T p.T332= Synonymous 8/39 - 1
15-50926590-T-C c.996A>G p.T332= Synonymous 8/39 - 2
15-50926590-T-G c.996A>C p.T332= Synonymous 8/39 - 1
15-50926611-T-A c.975A>T p.L325= Synonymous 8/39 - 1
15-50926611-T-C c.975A>G p.L325= Synonymous 8/39 - 1
15-50926611-T-G c.975A>C p.L325= Synonymous 8/39 - 1
15-50926613-G-A c.973C>T p.L325= Synonymous 8/39 - 1
15-50926640-C-T c.946G>A p.E316K Missense 8/39 - 1
15-50926648-A-C c.938T>G p.V313G Missense 8/39 - 1
15-50926652-C-T c.934G>A p.V312I Missense 8/39 - 1
15-50926653-TG-AT c.932_933delinsAT p.P311H Missense 8/39 - 1
15-50926658-C-T c.928G>A p.V310I Missense 8/39 - 2
15-50926658-C-CA c.927dup p.V310Cfs*7 Frameshift 8/39 - 1
15-50926661-G-A c.925C>T p.P309S Missense 8/39 - 1
15-50926659-A-AG c.926dup p.V310Cfs*7 Frameshift 8/39 - 1
15-50926659-AG-A c.926del p.P309Lfs*4 Frameshift 8/39 - 1
15-50926666-C-T c.920G>A p.S307N Missense 8/39 - 1
15-50926673-G-A c.913C>T p.Q305* Nonsense 8/39 - 1
15-50926677-G-A c.909C>T p.Y303= Synonymous 8/39 - 1
15-50926682-C-T c.904G>A p.E302K Missense 8/39 - 1
15-50926685-G-A c.901C>T p.L301F Missense 8/39 - 3
15-50926693-A-G c.893T>C p.L298P Missense 8/39 - 1
15-50926700-C-T c.886G>A p.V296I Missense 8/39 - 1
15-50926701-A-G c.885T>C p.N295= Synonymous 8/39 - 2
15-50926703-T-C c.883A>G p.N295D Missense 8/39 - 1
15-50926715-C-T c.871G>A p.E291K Missense 8/39 - 1
15-50926724-G-A c.862C>T p.L288F Missense 8/39 - 1
15-50926725-T-A c.861A>T p.A287= Synonymous 8/39 - 1
15-50926725-T-C c.861A>G p.A287= Synonymous 8/39 - 1
15-50926725-T-G c.861A>C p.A287= Synonymous 8/39 - 1
15-50926728-C-G c.858G>C p.V286= Synonymous 8/39 - 1
15-50926729-A-G c.857T>C p.V286A Missense 8/39 - 1
15-50926730-C-T c.856G>A p.V286M Missense 8/39 - 1
15-50926735-G-A c.851C>T p.P284L Missense 8/39 - 5
15-50926736-G-A c.850C>T p.P284S Missense 8/39 - 2
15-50926742-C-A c.844G>T p.G282C Missense 8/39 - 1
15-50926748-C-A c.838G>T p.G280C Missense 8/39 - 1
15-50926748-C-G c.838G>C p.G280R Missense 8/39 - 1
15-50926752-C-T c.834G>A p.R278= Synonymous 8/39 - 1
15-50929619-T-G c.832A>C p.R278= Synonymous 7/39 - 1
15-50928909-T-A c.832+710A>T - IntronicSNV - 7/38 1
15-50929491-T-TG c.832+127dup - IntronicInsertion - 7/38 3
15-50929607-G-A c.832+12C>T - IntronicSNV - 7/38 1
15-50929621-G-A c.830C>T p.A277V Missense 7/39 - 1
15-50929622-C-T c.829G>A p.A277T Missense 7/39 - 1
15-50929628-T-G c.823A>C p.I275L Missense 7/39 - 1
15-50929630-C-A c.821G>T p.R274I Missense 7/39 - 6
15-50929637-G-T c.814C>A p.Q272K Missense 7/39 - 1
15-50929640-T-C c.811A>G p.N271D Missense 7/39 - 1
15-50929645-G-C c.806C>G p.T269S Missense 7/39 - 3
15-50929646-T-A c.805A>T p.T269S Missense 7/39 - 2
15-50929652-C-T c.799G>A p.E267K Missense 7/39 - 1
15-50929667-G-C c.784C>G p.L262V Missense 7/39 - 1
15-50929668-T-A c.783A>T p.R261S Missense 7/39 - 1
15-50929668-T-G c.783A>C p.R261S Missense 7/39 - 1
15-50929675-T-G c.776A>C p.E259A Missense 7/39 - 1
15-50929677-C-T c.774G>A p.A258= Synonymous 7/39 - 2
15-50929682-C-T c.769G>A p.G257R Missense 7/39 - 1
15-50929699-C-T c.752G>A p.G251D Missense 7/39 - 1
15-50929703-C-T c.748G>A p.D250N Missense 7/39 - 1
15-50929718-A-T c.733T>A p.F245I Missense 7/39 - 4
15-50929721-G-A c.730C>T p.H244Y Missense 7/39 - 1
15-50929722-G-A c.729C>T p.S243= Synonymous 7/39 - 2
15-50929722-G-C c.729C>G p.S243= Synonymous 7/39 - 1
15-50929722-G-T c.729C>A p.S243= Synonymous 7/39 - 1
15-50929725-A-G c.726T>C p.H242= Synonymous 7/39 - 1
15-50929728-C-A c.723G>T p.L241= Synonymous 7/39 - 1
15-50929728-C-G c.723G>C p.L241= Synonymous 7/39 - 1
15-50929728-C-T c.723G>A p.L241= Synonymous 7/39 - 1
15-50929730-G-A c.721C>T p.L241= Synonymous 7/39 - 1
15-50929734-A-G c.717T>C p.N239= Synonymous 7/39 - 1
15-50929737-C-A c.714G>T p.L238F Missense 7/39 - 2
15-50929737-C-G c.714G>C p.L238F Missense 7/39 - 2
15-50929742-C-T c.709G>A p.V237I Missense 7/39 - 1
15-50929747-AA-GC c.703_704delinsGC p.L235A Missense 7/39 - 1
15-50929755-C-A c.696G>T p.L232= Synonymous 7/39 - 2
15-50929755-C-G c.696G>C p.L232= Synonymous 7/39 - 2
15-50929755-C-T c.696G>A p.L232= Synonymous 7/39 - 2
15-50929757-G-A c.694C>T p.L232= Synonymous 7/39 - 2
15-50929762-TT-GC c.688_689delinsGC p.N230A Missense 7/39 - 1
15-50929768-A-T c.683T>A p.L228* Nonsense 7/39 - 1
15-50929767-T-C c.684A>G p.L228= Synonymous 7/39 - 2
15-50929769-A-G c.682T>C p.L228= Synonymous 7/39 - 1
15-50929771-G-A c.680C>T p.T227I Missense 7/39 - 1
15-50929774-T-A c.677A>T p.Q226L Missense 7/39 - 1
15-50929776-A-C c.675T>G p.Y225* Nonsense 7/39 - 1
15-50929776-A-T c.675T>A p.Y225* Nonsense 7/39 - 1
15-50929790-C-T c.661G>A p.V221M Missense 7/39 - 2
15-50931423-G-T c.660+198C>A - IntronicSNV - 6/38 1
15-50931430-A-T c.660+191T>A - IntronicSNV - 6/38 1
15-50931600-A-C c.660+21T>G - IntronicSNV - 6/38 1
15-50931624-TCT-ATG c.655_657delinsCAT p.R219H Missense 6/39 - 1
15-50931631-A-C c.650T>G p.V217G Missense 6/39 - 1
15-50931633-AAG-CCA c.646_648delinsTGG p.L216W Missense 6/39 - 1
15-50931638-C-A c.643G>T p.D215Y Missense 6/39 - 1
15-50931641-T-G c.640A>C p.N214H Missense 6/39 - 1
15-50931644-T-A c.637A>T p.R213* Nonsense 6/39 - 1
15-50931650-C-T c.631G>A p.E211K Missense 6/39 - 2
15-50931654-C-A c.627G>T p.V209= Synonymous 6/39 - 1
15-50931654-C-G c.627G>C p.V209= Synonymous 6/39 - 2
15-50931654-C-T c.627G>A p.V209= Synonymous 6/39 - 1
15-50931660-C-T c.621G>A p.W207* Nonsense 6/39 - 1
15-50931661-C-T c.620G>A p.W207* Nonsense 6/39 - 1
15-50931672-T-A c.609A>T p.G203= Synonymous 6/39 - 4
15-50931674-C-G c.607G>C p.G203R Missense 6/39 - 2
15-50931674-C-T c.607G>A p.G203R Missense 6/39 - 3
15-50931675-G-T c.606C>A p.I202= Synonymous 6/39 - 1
15-50931679-G-A c.602C>T p.T201I Missense 6/39 - 1
15-50931679-G-T c.602C>A p.T201N Missense 6/39 - 1
15-50931680-T-G c.601A>C p.T201P Missense 6/39 - 1
15-50931681-G-T c.600C>A p.C200* Nonsense 6/39 - 1
15-50931682-C-T c.599G>A p.C200Y Missense 6/39 - 1
15-50931683-A-G c.598T>C p.C200R Missense 6/39 - 1
15-50931687-C-A c.594G>T p.K198N Missense 6/39 - 1
15-50931687-C-G c.594G>C p.K198N Missense 6/39 - 1
15-50931690-TCG-CCA c.589_591delinsTGG p.R197W Missense 6/39 - 1
15-50931691-C-T c.590G>A p.R197Q Missense 6/39 - 2
15-50931696-T-A c.585A>T p.S195= Synonymous 6/39 - 1
15-50931696-T-C c.585A>G p.S195= Synonymous 6/39 - 1
15-50931696-T-G c.585A>C p.S195= Synonymous 6/39 - 1
15-50931697-G-A c.584C>T p.S195L Missense 6/39 - 1
15-50931697-G-T c.584C>A p.S195* Nonsense 6/39 - 1
15-50931700-C-G c.581G>C p.R194T Missense 6/39 - 4
15-50931700-C-T c.581G>A p.R194K Missense 6/39 - 1
15-50931707-C-T c.574G>A p.A192T Missense 6/39 - 1
15-50931711-T-A c.570A>T p.E190D Missense 6/39 - 2
15-50931711-T-G c.570A>C p.E190D Missense 6/39 - 1
15-50931713-C-G c.568G>C p.E190Q Missense 6/39 - 2
15-50931720-G-A c.561C>T p.A187= Synonymous 6/39 - 4
15-50931721-G-T c.560C>A p.A187D Missense 6/39 - 1
15-50931722-C-T c.559G>A p.A187T Missense 6/39 - 2
15-50931724-T-G c.557A>C p.D186A Missense 6/39 - 1
15-50931726-TC-GT c.554_555delinsAC p.G185D Missense 6/39 - 1
15-50931731-C-A c.550G>T p.V184F Missense 6/39 - 1
15-50931731-C-T c.550G>A p.V184I Missense 6/39 - 2
15-50931735-T-C c.546A>G p.K182= Synonymous 6/39 - 1
15-50931736-T-G c.545A>C p.K182T Missense 6/39 - 1
15-50931739-G-A c.542C>T p.A181V Missense 6/39 - 1
15-50931740-C-T c.541G>A p.A181T Missense 6/39 - 2
15-50931743-C-T c.538G>A p.V180M Missense 6/39 - 1
15-50931745-C-A c.536G>T p.G179V Missense 6/39 - 2
15-50931745-C-T c.536G>A p.G179D Missense 6/39 - 1
15-50931925-G-A c.536-180C>T - IntronicSNV - 5/38 1
15-50934343-T-C c.535+1194A>G - IntronicSNV - 5/38 1
15-50934557-A-C c.535+980T>G - IntronicSNV - 5/38 1
15-50935057-T-G c.535+480A>C - IntronicSNV - 5/38 1
15-50935056-GT-G c.535+480del - IntronicDeletion - 5/38 1
15-50935539-G-C c.533C>G p.T178R Missense 5/39 - 1
15-50935541-G-C c.531C>G p.N177K Missense 5/39 - 1
15-50935546-C-T c.526G>A p.V176I Missense 5/39 - 1
15-50935549-C-A c.523G>T p.G175* Nonsense 5/39 - 1
15-50935551-C-G c.521G>C p.G174A Missense 5/39 - 1
15-50935562-C-A c.510G>T p.W170C Missense 5/39 - 1
15-50935562-C-G c.510G>C p.W170C Missense 5/39 - 1
15-50935569-C-A c.503G>T p.G168V Missense 5/39 - 1
15-50935570-C-A c.502G>T p.G168* Nonsense 5/39 - 1
15-50935572-G-C c.500C>G p.T167S Missense 5/39 - 1
15-50935573-T-A c.499A>T p.T167S Missense 5/39 - 1
15-50935578-A-G c.494T>C p.V165A Missense 5/39 - 1
15-50935579-C-A c.493G>T p.V165F Missense 5/39 - 1
15-50935579-C-T c.493G>A p.V165I Missense 5/39 - 1
15-50935595-A-C c.477T>G p.G159= Synonymous 5/39 - 1
15-50935595-A-G c.477T>C p.G159= Synonymous 5/39 - 2
15-50935595-A-T c.477T>A p.G159= Synonymous 5/39 - 1
15-50935602-C-G c.470G>C p.G157A Missense 5/39 - 1
15-50935603-C-T c.469G>A p.G157R Missense 5/39 - 1
15-50935605-A-C c.467T>G p.L156R Missense 5/39 - 1
15-50935607-C-G c.465G>C p.L155F Missense 5/39 - 2
15-50935607-C-T c.465G>A p.L155= Synonymous 5/39 - 1
15-50935609-A-G c.463T>C p.L155= Synonymous 5/39 - 1
15-50935614-T-G c.458A>C p.K153T Missense 5/39 - 3
15-50935620-C-T c.452G>A p.R151Q Missense 5/39 - 3
15-50935627-G-A c.445C>T p.H149Y Missense 5/39 - 1
15-50935629-A-G c.443T>C p.L148P Missense 5/39 - 1
15-50935640-C-A c.432G>T p.Q144H Missense 5/39 - 1
15-50935640-C-G c.432G>C p.Q144H Missense 5/39 - 1
15-50935643-C-A c.429G>T p.M143I Missense 5/39 - 3
15-50935643-C-G c.429G>C p.M143I Missense 5/39 - 3
15-50935643-C-T c.429G>A p.M143I Missense 5/39 - 3
15-50935644-A-G c.428T>C p.M143T Missense 5/39 - 1
15-50935644-A-T c.428T>A p.M143K Missense 5/39 - 1
15-50935645-T-C c.427A>G p.M143V Missense 5/39 - 1
15-50935647-C-T c.425G>A p.G142D Missense 5/39 - 1
15-50935648-C-A c.424G>T p.G142C Missense 5/39 - 1
15-50935655-T-A c.417A>T p.V139= Synonymous 5/39 - 1
15-50935655-TAC-CAT c.415_417delinsATG p.V139M Missense 5/39 - 1
15-50935655-T-C c.417A>G p.V139= Synonymous 5/39 - 1
15-50935655-T-G c.417A>C p.V139= Synonymous 5/39 - 1
15-50935659-GA-AG c.412_413delinsCT p.S138L Missense 5/39 - 2
15-50935663-T-C c.409A>G p.I137V Missense 5/39 - 1
15-50935666-C-G c.406G>C p.V136L Missense 5/39 - 2
15-50935669-G-C c.403C>G p.L135V Missense 5/39 - 1
15-50935677-TAAC-T c.393_395del p.L132del InFrameDeletion 5/39 - 1
15-50935683-A-G c.389T>C p.M130T Missense 5/39 - 2
15-50935693-C-T c.379G>A p.E127K Missense 5/39 - 1
15-50935700-C-A c.372G>T p.L124= Synonymous 5/39 - 1
15-50935700-C-G c.372G>C p.L124= Synonymous 5/39 - 1
15-50935700-C-T c.372G>A p.L124= Synonymous 5/39 - 1
15-50935702-G-A c.370C>T p.L124= Synonymous 5/39 - 1
15-50935710-A-C c.362T>G p.L121R Missense 5/39 - 1
15-50935715-G-A c.357C>T p.V119= Synonymous 5/39 - 4
15-50935715-G-C c.357C>G p.V119= Synonymous 5/39 - 3
15-50935715-G-T c.357C>A p.V119= Synonymous 5/39 - 3
15-50935716-A-C c.356T>G p.V119G Missense 5/39 - 3
15-50935717-ACT-A c.354_355del p.E118Dfs*8 Frameshift 5/39 - 1
15-50935723-G-A c.349C>T p.P117S Missense 5/39 - 1
15-50935723-G-C c.349C>G p.P117A Missense 5/39 - 1
15-50935726-T-C c.346A>G p.K116E Missense 5/39 - 1
15-50935728-G-A c.344C>T p.T115I Missense 5/39 - 2
15-50935731-T-A c.341A>T p.D114V Missense 5/39 - 1
15-50935734-T-C c.338A>G p.Y113C Missense 5/39 - 3
15-50935737-G-A c.335C>T p.S112L Missense 5/39 - 3
15-50935738-A-C c.334T>G p.S112A Missense 5/39 - 2
15-50935743-CT-TA c.328_329delinsTA p.R110* Nonsense 5/39 - 1
15-50937123-C-G c.322-1373G>C - IntronicSNV - 4/38 1
15-50937123-C-T c.322-1373G>A - IntronicSNV - 4/38 1
15-50938978-T-C c.321+1906A>G - IntronicSNV - 4/38 1
15-50939254-C-A c.321+1630G>T - IntronicSNV - 4/38 1
15-50939254-C-G c.321+1630G>C - IntronicSNV - 4/38 1
15-50940884-C-G c.321G>C p.K107N Missense 4/39 - 1
15-50940886-T-C c.319A>G p.K107E Missense 4/39 - 1
15-50940888-G-T c.317C>A p.A106D Missense 4/39 - 1
15-50940889-C-T c.316G>A p.A106T Missense 4/39 - 1
15-50940891-C-A c.314G>T p.R105I Missense 4/39 - 5
15-50940894-T-C c.311A>G p.Y104C Missense 4/39 - 1
15-50940896-G-A c.309C>T p.S103= Synonymous 4/39 - 1
15-50940896-G-C c.309C>G p.S103= Synonymous 4/39 - 1
15-50940896-G-T c.309C>A p.S103= Synonymous 4/39 - 1
15-50940897-G-A c.308C>T p.S103F Missense 4/39 - 1
15-50940897-G-C c.308C>G p.S103C Missense 4/39 - 1
15-50940906-C-G c.299G>C p.G100A Missense 4/39 - 1
15-50940906-C-T c.299G>A p.G100D Missense 4/39 - 1
15-50940910-C-T c.295G>A p.G99R Missense 4/39 - 5
15-50940913-G-A c.292C>T p.Q98* Nonsense 4/39 - 1
15-50940914-A-G c.291T>C p.F97= Synonymous 4/39 - 1
15-50940914-A-T c.291T>A p.F97L Missense 4/39 - 2
15-50940919-T-G c.286A>C p.N96H Missense 4/39 - 7
15-50940927-C-G c.278G>C p.G93A Missense 4/39 - 7
15-50940932-AG-CT c.272_273inv p.A91E Missense 4/39 - 1
15-50940934-C-T c.271G>A p.A91T Missense 4/39 - 1
15-50940936-T-G c.269A>C p.D90A Missense 4/39 - 1
15-50940937-C-T c.268G>A p.D90N Missense 4/39 - 1
15-50940938-C-A c.267G>T p.T89= Synonymous 4/39 - 1
15-50940938-C-G c.267G>C p.T89= Synonymous 4/39 - 1
15-50940938-C-T c.267G>A p.T89= Synonymous 4/39 - 2
15-50940939-G-A c.266C>T p.T89M Missense 4/39 - 2
15-50940939-G-T c.266C>A p.T89K Missense 4/39 - 1
15-50940940-T-A c.265A>T p.T89S Missense 4/39 - 1
15-50940940-T-C c.265A>G p.T89A Missense 4/39 - 2
15-50940944-G-A c.261C>T p.S87= Synonymous 4/39 - 1
15-50940945-C-T c.260G>A p.S87N Missense 4/39 - 2
15-50940951-TC-AT c.253_254delinsAT p.E85I Missense 4/39 - 1
15-50940952-C-A c.253G>T p.E85* Nonsense 4/39 - 1
15-50940952-C-T c.253G>A p.E85K Missense 4/39 - 1
15-50940955-T-C c.250A>G p.T84A Missense 4/39 - 2
15-50940958-TG-T c.247del p.H83Ifs*13 Frameshift 4/39 - 1
15-50940960-T-A c.245A>T p.K82M Missense 4/39 - 1
15-50940964-C-G c.241G>C p.E81Q Missense 4/39 - 1
15-50940964-C-T c.241G>A p.E81K Missense 4/39 - 1
15-50940965-C-A c.240G>T p.V80= Synonymous 4/39 - 1
15-50940965-C-G c.240G>C p.V80= Synonymous 4/39 - 1
15-50940965-C-T c.240G>A p.V80= Synonymous 4/39 - 1
15-50940968-A-C c.237T>G p.S79= Synonymous 4/39 - 2
15-50940979-C-G c.226G>C p.E76Q Missense 4/39 - 3
15-50940979-C-T c.226G>A p.E76K Missense 4/39 - 1
15-50940981-AT-TC c.223_224delinsGA p.I75E Missense 4/39 - 1
15-50940982-T-C c.223A>G p.I75V Missense 4/39 - 2
15-50940988-G-A c.217C>T p.Q73* Nonsense 4/39 - 1
15-50940997-G-A c.208C>T p.H70Y Missense 4/39 - 1
15-50940998-G-T c.207C>A p.D69E Missense 4/39 - 1
15-50941000-C-A c.205G>T p.D69Y Missense 4/39 - 1
15-50941000-C-T c.205G>A p.D69N Missense 4/39 - 1
15-50941002-C-A c.203G>T p.G68V Missense 4/39 - 1
15-50941004-C-T c.201G>A p.L67= Synonymous 4/39 - 1
15-50941006-A-G c.199T>C p.L67= Synonymous 4/39 - 1
15-50941008-T-C c.197A>G p.K66R Missense 4/39 - 1
15-50941014-ATCTGAGT-A c.185_191del p.Y62Lfs*2 Frameshift 4/39 - 1
15-50941022-T-C c.183A>G p.K61= Synonymous 4/39 - 1
15-50941023-T-G c.182A>C p.K61T Missense 4/39 - 1
15-50941024-T-C c.181A>G p.K61E Missense 4/39 - 2
15-50941028-GGC-TTA c.175_177delinsTAA p.A59* Nonsense 4/39 - 1
15-50941035-CT-GG c.169_170delinsCC p.S57P Missense 4/39 - 1
15-50941037-TGC-AAA c.166_168delinsTTT p.A56F Missense 4/39 - 1
15-50941041-GT-AC c.163_164inv p.T55V Missense 4/39 - 1
15-50941044-A-G c.161T>C p.F54S Missense 4/39 - 1
15-50941043-A-C c.162T>G p.F54L Missense 4/39 - 1
15-50941043-A-T c.162T>A p.F54L Missense 4/39 - 1
15-50941045-A-G c.160T>C p.F54L Missense 4/39 - 1
15-50941052-A-G c.153T>C p.H51= Synonymous 4/39 - 1
15-50941057-G-A c.148C>T p.Q50* Nonsense 4/39 - 1
15-50941061-G-A c.144C>T p.V48= Synonymous 4/39 - 1
15-50941061-G-C c.144C>G p.V48= Synonymous 4/39 - 1
15-50941061-G-T c.144C>A p.V48= Synonymous 4/39 - 1
15-50941068-C-A c.137G>T p.R46L Missense 4/39 - 2
15-50941069-G-A c.136C>T p.R46C Missense 4/39 - 4
15-50941072-C-G c.133G>C p.G45R Missense 4/39 - 1
15-50941077-AA-GC c.127_128delinsGC p.F43A Missense 4/39 - 1
15-50941079-A-G c.126T>C p.C42= Synonymous 4/39 - 1
15-50941108-C-G c.123-26G>C - IntronicSNV - 3/38 10
15-50941131-A-G c.123-49T>C - IntronicSNV - 3/38 6
15-50941984-G-A c.123-902C>T - IntronicSNV - 3/38 1
15-50946815-A-G c.122+3163T>C - IntronicSNV - 3/38 1
15-50949979-T-C c.121A>G p.R41G Missense 3/39 - 1
15-50949981-AC-TG c.118_119delinsCA p.V40H Missense 3/39 - 1
15-50949982-C-T c.118G>A p.V40I Missense 3/39 - 1
15-50949991-G-C c.109C>G p.Q37E Missense 3/39 - 1
15-50949993-C-A c.107G>T p.C36F Missense 3/39 - 1
15-50949997-T-A c.103A>T p.I35F Missense 3/39 - 1
15-50949997-T-G c.103A>C p.I35L Missense 3/39 - 1
15-50950002-CA-GC c.97_98delinsGC p.C33A Missense 3/39 - 2
15-50950002-CA-TC c.97_98delinsGA p.C33D Missense 3/39 - 1
15-50950002-CA-TT c.97_98delinsAA p.C33N Missense 3/39 - 1
15-50950006-C-A c.94G>T p.G32* Nonsense 3/39 - 2
15-50950008-G-A c.92C>T p.P31L Missense 3/39 - 1
15-50950009-G-A c.91C>T p.P31S Missense 3/39 - 1
15-50950009-G-T c.91C>A p.P31T Missense 3/39 - 2
15-50950115-T-C c.84-99A>G - IntronicSNV - 2/38 1
15-50950141-T-C c.84-125A>G - IntronicSNV - 2/38 3
15-50950152-G-A c.84-136C>T - IntronicSNV - 2/38 2
15-50952670-T-C c.83+2494A>G - IntronicSNV - 2/38 1
15-50954318-A-G c.83+846T>C - IntronicSNV - 2/38 1
15-50954947-T-C c.83+217A>G - IntronicSNV - 2/38 3
15-50955171-G-T c.76C>A p.P26T Missense 2/39 - 1
15-50955174-C-T c.73G>A p.D25N Missense 2/39 - 1
15-50955179-G-C c.68C>G p.S23C Missense 2/39 - 1
15-50955179-G-T c.68C>A p.S23Y Missense 2/39 - 1
15-50955182-C-T c.65G>A p.S22N Missense 2/39 - 1
15-50955184-TGG-GTT c.61_63delinsAAC p.P21N Missense 2/39 - 1
15-50955186-G-A c.61C>T p.P21S Missense 2/39 - 1
15-50955194-T-G c.53A>C p.Y18S Missense 2/39 - 1
15-50955196-TAC-CAT c.49_51delinsATG p.V17M Missense 2/39 - 1
15-50955200-C-T c.47G>A p.C16Y Missense 2/39 - 4
15-50955201-A-G c.46T>C p.C16R Missense 2/39 - 1
15-50955205-C-T c.42G>A p.R14= Synonymous 2/39 - 1
15-50955207-T-G c.40A>C p.R14= Synonymous 2/39 - 1
15-50955206-CT-GC c.40_41delinsGC p.R14A Missense 2/39 - 1
15-50955207-T-A c.40A>T p.R14W Missense 2/39 - 1
15-50955211-GG-CA c.35_36delinsTG p.T12M Missense 2/39 - 1
15-50955212-G-A c.35C>T p.T12I Missense 2/39 - 1
15-50955214-C-T c.33G>A p.L11= Synonymous 2/39 - 2
15-50955221-CTT-C c.24_25del p.S9Hfs*60 Frameshift 2/39 - 1
15-50955225-C-A c.22G>T p.E8* Nonsense 2/39 - 1
15-50955225-C-T c.22G>A p.E8K Missense 2/39 - 1
15-50955230-C-T c.17G>A p.W6* Nonsense 2/39 - 1
15-50955234-A-G c.13T>C p.S5P Missense 2/39 - 1
15-50955234-A-T c.13T>A p.S5T Missense 2/39 - 1
15-50955235-T-A c.12A>T p.K4N Missense 2/39 - 1
15-50955235-T-G c.12A>C p.K4N Missense 2/39 - 1
15-50955243-A-C c.4T>G p.S2A Missense 2/39 - 1
15-50956834-C-G c.4-1591G>C - IntronicSNV - 1/38 1
15-50956926-G-A c.4-1683C>T - IntronicSNV - 1/38 1
15-50957625-C-A c.4-2382G>T - IntronicSNV - 1/38 1
15-50957625-C-G c.4-2382G>C - IntronicSNV - 1/38 1
15-50967723-T-C c.3+11005A>G - IntronicSNV - 1/38 2
15-50970774-C-G c.3+7954G>C - IntronicSNV - 1/38 1
15-50971081-A-T c.3+7647T>A - IntronicSNV - 1/38 1
15-50974435-T-C c.3+4293A>G - IntronicSNV - 1/38 1
15-50978168-C-A c.3+560G>T - IntronicSNV - 1/38 1
15-50978341-T-G c.3+387A>C - IntronicSNV - 1/38 1
15-50978624-C-A c.3+104G>T - IntronicSNV - 1/38 1
15-50978625-G-A c.3+103C>T - IntronicSNV - 1/38 1
15-50978638-C-A c.3+90G>T - IntronicSNV - 1/38 1
15-50978693-A-G c.3+35T>C - IntronicSNV - 1/38 1
15-50978701-C-A c.3+27G>T - IntronicSNV - 1/38 1
15-50978702-C-A c.3+26G>T - IntronicSNV - 1/38 1
15-50978727-C-G c.3+1G>C - IntronicSNV - 1/38 1
15-50978727-C-T c.3+1G>A - IntronicSNV - 1/38 2
15-50978730-T-C c.1A>G p.M1? Missense 1/39 - 1
15-50978933-T-C c.-203A>G - 5-UTRSNV 1/39 - 2
15-50978933-T-G c.-203A>C - 5-UTRSNV 1/39 - 2