| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 1-115590998-T-C | c.*2113A>G | - | 3-UTRSNV | 8/8 | - | 2 |
| 1-115591053-T-A | c.*2058A>T | - | 3-UTRSNV | 8/8 | - | 1 |
| 1-115591053-T-G | c.*2058A>C | - | 3-UTRSNV | 8/8 | - | 1 |
| 1-115591058-T-C | c.*2053A>G | - | 3-UTRSNV | 8/8 | - | 3 |
| 1-115591163-A-G | c.*1948T>C | - | 3-UTRSNV | 8/8 | - | 2 |
| 1-115591163-A-T | c.*1948T>A | - | 3-UTRSNV | 8/8 | - | 2 |
| 1-115592554-T-C | c.*557A>G | - | 3-UTRSNV | 8/8 | - | 1 |
| 1-115592820-T-C | c.*291A>G | - | 3-UTRSNV | 8/8 | - | 6 |
| 1-115593112-C-T | c.665G>A | p.*222= | Synonymous | 8/8 | - | 1 |
| 1-115593117-C-A | c.660G>T | p.V220= | Synonymous | 8/8 | - | 1 |
| 1-115593119-C-A | c.658G>T | p.V220L | Missense | 8/8 | - | 1 |
| 1-115593124-C-T | c.653G>A | p.R218Q | Missense | 8/8 | - | 2 |
| 1-115593130-T-C | c.647A>G | p.N216S | Missense | 8/8 | - | 1 |
| 1-115593133-C-A | c.644G>T | p.R215L | Missense | 8/8 | - | 2 |
| 1-115593133-C-T | c.644G>A | p.R215Q | Missense | 8/8 | - | 10 |
| 1-115593134-G-A | c.643C>T | p.R215* | Nonsense | 8/8 | - | 1 |
| 1-115593135-T-C | c.642A>G | p.I214M | Missense | 8/8 | - | 3 |
| 1-115593138-C-T | c.639G>A | p.A213= | Synonymous | 8/8 | - | 3 |
| 1-115593139-G-A | c.638C>T | p.A213V | Missense | 8/8 | - | 4 |
| 1-115593140-C-G | c.637G>C | p.A213P | Missense | 8/8 | - | 2 |
| 1-115593151-A-G | c.626T>C | p.V209A | Missense | 8/8 | - | 1 |
| 1-115593159-G-C | c.618C>G | p.F206L | Missense | 8/8 | - | 1 |
| 1-115593159-G-T | c.618C>A | p.F206L | Missense | 8/8 | - | 1 |
| 1-115593161-A-G | c.616T>C | p.F206L | Missense | 8/8 | - | 1 |
| 1-115593169-C-T | c.608G>A | p.G203D | Missense | 8/8 | - | 2 |
| 1-115593176-T-C | c.601A>G | p.I201V | Missense | 8/8 | - | 1 |
| 1-115593414-C-G | c.601-238G>C | - | IntronicSNV | - | 7/7 | 1 |
| 1-115593414-C-T | c.601-238G>A | - | IntronicSNV | - | 7/7 | 1 |
| 1-115595987-A-G | c.600+13T>C | - | IntronicSNV | - | 7/7 | 1 |
| 1-115595999-C-T | c.600+1G>A | - | IntronicSNV | - | 7/7 | 1 |
| 1-115596000-C-T | c.600G>A | p.T200= | Synonymous | 7/8 | - | 2 |
| 1-115596001-G-A | c.599C>T | p.T200M | Missense | 7/8 | - | 10 |
| 1-115596001-G-C | c.599C>G | p.T200R | Missense | 7/8 | - | 1 |
| 1-115596005-G-T | c.595C>A | p.L199M | Missense | 7/8 | - | 1 |
| 1-115596016-C-T | c.584G>A | p.G195E | Missense | 7/8 | - | 2 |
| 1-115596017-C-A | c.583G>T | p.G195* | Nonsense | 7/8 | - | 1 |
| 1-115596023-C-T | c.577G>A | p.G193S | Missense | 7/8 | - | 2 |
| 1-115596024-G-A | c.576C>T | p.V192= | Synonymous | 7/8 | - | 4 |
| 1-115596026-C-A | c.574G>T | p.V192F | Missense | 7/8 | - | 1 |
| 1-115596031-C-G | c.569G>C | p.G190A | Missense | 7/8 | - | 1 |
| 1-115596031-C-T | c.569G>A | p.G190E | Missense | 7/8 | - | 3 |
| 1-115596033-A-C | c.567T>G | p.I189M | Missense | 7/8 | - | 1 |
| 1-115596034-A-C | c.566T>G | p.I189S | Missense | 7/8 | - | 1 |
| 1-115596047-T-C | c.553A>G | p.K185E | Missense | 7/8 | - | 1 |
| 1-115596048-A-C | c.552T>G | p.V184= | Synonymous | 7/8 | - | 2 |
| 1-115596048-A-G | c.552T>C | p.V184= | Synonymous | 7/8 | - | 3 |
| 1-115596048-A-T | c.552T>A | p.V184= | Synonymous | 7/8 | - | 2 |
| 1-115596049-A-G | c.551T>C | p.V184A | Missense | 7/8 | - | 1 |
| 1-115596054-G-A | c.546C>T | p.I182= | Synonymous | 7/8 | - | 1 |
| 1-115596060-G-A | c.540C>T | p.T180= | Synonymous | 7/8 | - | 1 |
| 1-115596060-G-C | c.540C>G | p.T180= | Synonymous | 7/8 | - | 1 |
| 1-115596060-G-T | c.540C>A | p.T180= | Synonymous | 7/8 | - | 1 |
| 1-115596061-G-A | c.539C>T | p.T180I | Missense | 7/8 | - | 1 |
| 1-115596063-C-A | c.537G>T | p.E179D | Missense | 7/8 | - | 1 |
| 1-115596063-C-G | c.537G>C | p.E179D | Missense | 7/8 | - | 1 |
| 1-115596070-T-G | c.530A>C | p.E177A | Missense | 7/8 | - | 1 |
| 1-115596071-C-T | c.529G>A | p.E177K | Missense | 7/8 | - | 1 |
| 1-115596074-C-T | c.526G>A | p.D176N | Missense | 7/8 | - | 8 |
| 1-115596075-G-A | c.525C>T | p.I175= | Synonymous | 7/8 | - | 2 |
| 1-115596079-C-T | c.521G>A | p.C174Y | Missense | 7/8 | - | 1 |
| 1-115596252-T-C | c.517-169A>G | - | IntronicSNV | - | 6/7 | 1 |
| 1-115599081-G-T | c.516+1077C>A | - | IntronicSNV | - | 6/7 | 1 |
| 1-115600081-G-A | c.516+77C>T | - | IntronicSNV | - | 6/7 | 2 |
| 1-115600081-G-C | c.516+77C>G | - | IntronicSNV | - | 6/7 | 3 |
| 1-115600115-G-A | c.516+43C>T | - | IntronicSNV | - | 6/7 | 1 |
| 1-115600137-A-G | c.516+21T>C | - | IntronicSNV | - | 6/7 | 4 |
| 1-115600138-G-T | c.516+20C>A | - | IntronicSNV | - | 6/7 | 1 |
| 1-115600152-G-A | c.516+6C>T | - | IntronicSNV | - | 6/7 | 2 |
| 1-115600158-C-A | c.516G>T | p.K172N | Missense | 6/8 | - | 1 |
| 1-115600158-C-G | c.516G>C | p.K172N | Missense | 6/8 | - | 1 |
| 1-115600166-C-T | c.508G>A | p.G170R | Missense | 6/8 | - | 3 |
| 1-115600175-C-T | c.499G>A | p.E167K | Missense | 6/8 | - | 7 |
| 1-115600183-C-A | c.491G>T | p.C164F | Missense | 6/8 | - | 1 |
| 1-115600183-C-T | c.491G>A | p.C164Y | Missense | 6/8 | - | 1 |
| 1-115600184-A-T | c.490T>A | p.C164S | Missense | 6/8 | - | 1 |
| 1-115600188-A-C | c.486T>G | p.P162= | Synonymous | 6/8 | - | 1 |
| 1-115600188-A-G | c.486T>C | p.P162= | Synonymous | 6/8 | - | 1 |
| 1-115600188-A-T | c.486T>A | p.P162= | Synonymous | 6/8 | - | 1 |
| 1-115600190-G-T | c.484C>A | p.P162T | Missense | 6/8 | - | 2 |
| 1-115600191-T-C | c.483A>G | p.Q161= | Synonymous | 6/8 | - | 1 |
| 1-115600195-A-G | c.479T>C | p.V160A | Missense | 6/8 | - | 1 |
| 1-115600202-C-A | c.472G>T | p.E158* | Nonsense | 6/8 | - | 1 |
| 1-115600202-C-T | c.472G>A | p.E158K | Missense | 6/8 | - | 8 |
| 1-115600199-GTTCGGAGCTTTCTT-G | c.461_474del | p.K154Tfs*19 | Frameshift | 6/8 | - | 2 |
| 1-115600203-G-A | c.471C>T | p.S157= | Synonymous | 6/8 | - | 2 |
| 1-115600204-G-A | c.470C>T | p.S157F | Missense | 6/8 | - | 3 |
| 1-115600206-G-C | c.468C>G | p.S156R | Missense | 6/8 | - | 2 |
| 1-115600206-G-T | c.468C>A | p.S156R | Missense | 6/8 | - | 2 |
| 1-115600208-T-G | c.466A>C | p.S156R | Missense | 6/8 | - | 2 |
| 1-115600211-C-T | c.463G>A | p.E155K | Missense | 6/8 | - | 5 |
| 1-115600216-C-T | c.458G>A | p.G153E | Missense | 6/8 | - | 2 |
| 1-115600217-C-G | c.457G>C | p.G153R | Missense | 6/8 | - | 2 |
| 1-115600221-G-A | c.453C>T | p.C151= | Synonymous | 6/8 | - | 1 |
| 1-115600222-C-T | c.452G>A | p.C151Y | Missense | 6/8 | - | 2 |
| 1-115600424-C-T | c.445-195G>A | - | IntronicSNV | - | 5/7 | 1 |
| 1-115601450-C-T | c.444+54G>A | - | IntronicSNV | - | 5/7 | 1 |
| 1-115601504-TG-GT | c.443_444delinsAC | p.T148N | Missense | 5/8 | - | 1 |
| 1-115601508-G-C | c.440C>G | p.S147* | Nonsense | 5/8 | - | 1 |
| 1-115601508-G-T | c.440C>A | p.S147* | Nonsense | 5/8 | - | 1 |
| 1-115601516-G-A | c.432C>T | p.T144= | Synonymous | 5/8 | - | 2 |
| 1-115601516-G-C | c.432C>G | p.T144= | Synonymous | 5/8 | - | 1 |
| 1-115601516-G-T | c.432C>A | p.T144= | Synonymous | 5/8 | - | 1 |
| 1-115601517-G-A | c.431C>T | p.T144I | Missense | 5/8 | - | 2 |
| 1-115601517-G-C | c.431C>G | p.T144S | Missense | 5/8 | - | 1 |
| 1-115601521-T-C | c.427A>G | p.I143V | Missense | 5/8 | - | 1 |
| 1-115601524-G-A | c.424C>T | p.L142F | Missense | 5/8 | - | 1 |
| 1-115601525-TG-CA | c.422_423inv | p.T141M | Missense | 5/8 | - | 1 |
| 1-115601528-C-A | c.420G>T | p.G140= | Synonymous | 5/8 | - | 4 |
| 1-115601528-C-G | c.420G>C | p.G140= | Synonymous | 5/8 | - | 5 |
| 1-115601529-C-T | c.419G>A | p.G140E | Missense | 5/8 | - | 5 |
| 1-115601534-GC-CT | c.413_414delinsAG | p.G138E | Missense | 5/8 | - | 1 |
| 1-115601541-C-G | c.407G>C | p.G136A | Missense | 5/8 | - | 1 |
| 1-115601542-C-G | c.406G>C | p.G136R | Missense | 5/8 | - | 1 |
| 1-115601542-C-T | c.406G>A | p.G136R | Missense | 5/8 | - | 5 |
| 1-115601544-C-T | c.404G>A | p.R135K | Missense | 5/8 | - | 1 |
| 1-115601555-G-A | c.393C>T | p.Y131= | Synonymous | 5/8 | - | 1 |
| 1-115601556-T-C | c.392A>G | p.Y131C | Missense | 5/8 | - | 1 |
| 1-115601569-C-T | c.379G>A | p.A127T | Missense | 5/8 | - | 1 |
| 1-115601573-T-A | c.375A>T | p.E125D | Missense | 5/8 | - | 1 |
| 1-115601573-T-G | c.375A>C | p.E125D | Missense | 5/8 | - | 1 |
| 1-115601575-C-T | c.373G>A | p.E125K | Missense | 5/8 | - | 4 |
| 1-115601577-T-A | c.371A>T | p.Y124F | Missense | 5/8 | - | 2 |
| 1-115601580-A-AGC | c.367_368insGC | p.M123Sfs*48 | Frameshift | 5/8 | - | 1 |
| 1-115601580-A-G | c.368T>C | p.M123T | Missense | 5/8 | - | 2 |
| 1-115601583-G-C | c.365C>G | p.T122S | Missense | 5/8 | - | 1 |
| 1-115601584-T-A | c.364A>T | p.T122S | Missense | 5/8 | - | 1 |
| 1-115601585-C-G | c.363G>C | p.Q121H | Missense | 5/8 | - | 1 |
| 1-115601590-C-T | c.358G>A | p.V120I | Missense | 5/8 | - | 1 |
| 1-115601593-G-T | c.355C>A | p.H119N | Missense | 5/8 | - | 1 |
| 1-115601595-C-A | c.353G>T | p.R118L | Missense | 5/8 | - | 4 |
| 1-115601595-C-T | c.353G>A | p.R118Q | Missense | 5/8 | - | 3 |
| 1-115601596-G-A | c.352C>T | p.R118* | Nonsense | 5/8 | - | 1 |
| 1-115601597-G-A | c.351C>T | p.I117= | Synonymous | 5/8 | - | 1 |
| 1-115601597-G-T | c.351C>A | p.I117= | Synonymous | 5/8 | - | 1 |
| 1-115601615-A-G | c.346-13T>C | - | IntronicSNV | - | 4/7 | 10 |
| 1-115602601-G-A | c.345+484C>T | - | IntronicSNV | - | 4/7 | 1 |
| 1-115603065-T-G | c.345+20A>C | - | IntronicSNV | - | 4/7 | 2 |
| 1-115603086-A-C | c.344T>G | p.V115G | Missense | 4/8 | - | 1 |
| 1-115603091-C-A | c.339G>T | p.K113N | Missense | 4/8 | - | 1 |
| 1-115603091-C-G | c.339G>C | p.K113N | Missense | 4/8 | - | 1 |
| 1-115603111-C-T | c.319G>A | p.V107I | Missense | 4/8 | - | 1 |
| 1-115603120-T-C | c.310A>G | p.T104A | Missense | 4/8 | - | 1 |
| 1-115603126-C-T | c.304G>A | p.E102K | Missense | 4/8 | - | 1 |
| 1-115603128-G-A | c.302C>T | p.A101V | Missense | 4/8 | - | 2 |
| 1-115603136-T-C | c.294A>G | p.I98M | Missense | 4/8 | - | 3 |
| 1-115603151-G-A | c.279C>T | p.T93= | Synonymous | 4/8 | - | 1 |
| 1-115603159-A-C | c.271T>G | p.F91V | Missense | 4/8 | - | 2 |
| 1-115603168-G-A | c.271-9C>T | - | IntronicSNV | - | 3/7 | 1 |
| 1-115603340-C-G | c.271-181G>C | - | IntronicSNV | - | 3/7 | 2 |
| 1-115603413-C-G | c.271-254G>C | - | IntronicSNV | - | 3/7 | 1 |
| 1-115603413-C-T | c.271-254G>A | - | IntronicSNV | - | 3/7 | 1 |
| 1-115603844-T-G | c.271-685A>C | - | IntronicSNV | - | 3/7 | 1 |
| 1-115603902-C-T | c.271-743G>A | - | IntronicSNV | - | 3/7 | 1 |
| 1-115604160-AT-A | c.270+595del | - | IntronicDeletion | - | 3/7 | 1 |
| 1-115604399-T-C | c.270+357A>G | - | IntronicSNV | - | 3/7 | 1 |
| 1-115604454-C-T | c.270+302G>A | - | IntronicSNV | - | 3/7 | 1 |
| 1-115604681-A-G | c.270+75T>C | - | IntronicSNV | - | 3/7 | 5 |
| 1-115604701-G-T | c.270+55C>A | - | IntronicSNV | - | 3/7 | 1 |
| 1-115604730-A-C | c.270+26T>G | - | IntronicSNV | - | 3/7 | 1 |
| 1-115604734-T-A | c.270+22A>T | - | IntronicSNV | - | 3/7 | 1 |
| 1-115604738-C-A | c.270+18G>T | - | IntronicSNV | - | 3/7 | 1 |
| 1-115604743-T-A | c.270+13A>T | - | IntronicSNV | - | 3/7 | 1 |
| 1-115604752-T-A | c.270+4A>T | - | IntronicSNV | - | 3/7 | 1 |
| 1-115604754-A-C | c.270+2T>G | - | IntronicSNV | - | 3/7 | 1 |
| 1-115604756-T-A | c.270A>T | p.S90= | Synonymous | 3/8 | - | 3 |
| 1-115604757-G-A | c.269C>T | p.S90L | Missense | 3/8 | - | 2 |
| 1-115604757-G-T | c.269C>A | p.S90* | Nonsense | 3/8 | - | 1 |
| 1-115604768-A-G | c.258T>C | p.C86= | Synonymous | 3/8 | - | 1 |
| 1-115604774-C-A | c.252G>T | p.S84= | Synonymous | 3/8 | - | 2 |
| 1-115604774-C-G | c.252G>C | p.S84= | Synonymous | 3/8 | - | 2 |
| 1-115604774-C-T | c.252G>A | p.S84= | Synonymous | 3/8 | - | 3 |
| 1-115604775-G-A | c.251C>T | p.S84L | Missense | 3/8 | - | 5 |
| 1-115604778-T-C | c.248A>G | p.E83G | Missense | 3/8 | - | 1 |
| 1-115604779-C-T | c.247G>A | p.E83K | Missense | 3/8 | - | 2 |
| 1-115604780-C-T | c.246G>A | p.R82= | Synonymous | 3/8 | - | 3 |
| 1-115604782-G-A | c.244C>T | p.R82W | Missense | 3/8 | - | 1 |
| 1-115604782-G-C | c.244C>G | p.R82G | Missense | 3/8 | - | 1 |
| 1-115604789-T-G | c.237A>C | p.G79= | Synonymous | 3/8 | - | 1 |
| 1-115604791-C-T | c.235G>A | p.G79R | Missense | 3/8 | - | 1 |
| 1-115604792-G-A | c.234C>T | p.C78= | Synonymous | 3/8 | - | 3 |
| 1-115604792-G-T | c.234C>A | p.C78* | Nonsense | 3/8 | - | 2 |
| 1-115604793-C-T | c.233G>A | p.C78Y | Missense | 3/8 | - | 1 |
| 1-115604798-C-A | c.228G>T | p.G76= | Synonymous | 3/8 | - | 2 |
| 1-115604798-C-G | c.228G>C | p.G76= | Synonymous | 3/8 | - | 2 |
| 1-115604798-C-T | c.228G>A | p.G76= | Synonymous | 3/8 | - | 15 |
| 1-115604799-C-T | c.227G>A | p.G76E | Missense | 3/8 | - | 2 |
| 1-115604800-C-T | c.226G>A | p.G76R | Missense | 3/8 | - | 1 |
| 1-115604801-G-A | c.225C>T | p.F75= | Synonymous | 3/8 | - | 2 |
| 1-115604810-C-A | c.216G>T | p.V72= | Synonymous | 3/8 | - | 1 |
| 1-115604810-C-G | c.216G>C | p.V72= | Synonymous | 3/8 | - | 1 |
| 1-115604810-C-T | c.216G>A | p.V72= | Synonymous | 3/8 | - | 1 |
| 1-115604812-C-T | c.214G>A | p.V72M | Missense | 3/8 | - | 2 |
| 1-115604813-GGC-TTG | c.211_213delinsCAA | p.A71Q | Missense | 3/8 | - | 1 |
| 1-115604815-C-G | c.211G>C | p.A71P | Missense | 3/8 | - | 1 |
| 1-115604819-C-T | c.207G>A | p.M69I | Missense | 3/8 | - | 1 |
| 1-115604827-C-T | c.199G>A | p.A67T | Missense | 3/8 | - | 1 |
| 1-115604826-GC-G | c.199del | p.A67Pfs*2 | Frameshift | 3/8 | - | 1 |
| 1-115604830-C-G | c.196G>C | p.G66R | Missense | 3/8 | - | 1 |
| 1-115604830-C-T | c.196G>A | p.G66R | Missense | 3/8 | - | 2 |
| 1-115604832-GC-CA | c.193_194delinsTG | p.A65C | Missense | 3/8 | - | 1 |
| 1-115604832-G-T | c.194C>A | p.A65D | Missense | 3/8 | - | 1 |
| 1-115604834-TC-GT | c.191_192delinsAC | p.G64D | Missense | 3/8 | - | 2 |
| 1-115604836-C-T | c.190G>A | p.G64R | Missense | 3/8 | - | 5 |
| 1-115604839-C-T | c.187G>A | p.V63I | Missense | 3/8 | - | 1 |
| 1-115604846-A-G | c.180T>C | p.Y60= | Synonymous | 3/8 | - | 1 |
| 1-115604852-C-A | c.174G>T | p.G58= | Synonymous | 3/8 | - | 1 |
| 1-115604852-C-G | c.174G>C | p.G58= | Synonymous | 3/8 | - | 1 |
| 1-115604852-C-T | c.174G>A | p.G58= | Synonymous | 3/8 | - | 1 |
| 1-115609203-C-T | c.173-4350G>A | - | IntronicSNV | - | 2/7 | 1 |
| 1-115613073-A-G | c.172+2453T>C | - | IntronicSNV | - | 2/7 | 1 |
| 1-115613073-A-T | c.172+2453T>A | - | IntronicSNV | - | 2/7 | 1 |
| 1-115613658-A-C | c.172+1868T>G | - | IntronicSNV | - | 2/7 | 1 |
| 1-115615246-G-A | c.172+280C>T | - | IntronicSNV | - | 2/7 | 1 |
| 1-115615358-T-C | c.172+168A>G | - | IntronicSNV | - | 2/7 | 1 |
| 1-115615523-C-T | c.172+3G>A | - | IntronicSNV | - | 2/7 | 1 |
| 1-115615533-G-A | c.165C>T | p.F55= | Synonymous | 2/8 | - | 1 |
| 1-115615541-C-T | c.157G>A | p.E53K | Missense | 2/8 | - | 2 |
| 1-115615543-G-C | c.155C>G | p.P52R | Missense | 2/8 | - | 1 |
| 1-115615546-G-A | c.152C>T | p.S51F | Missense | 2/8 | - | 4 |
| 1-115615549-T-G | c.149A>C | p.K50T | Missense | 2/8 | - | 1 |
| 1-115615557-T-A | c.141A>T | p.S47= | Synonymous | 2/8 | - | 3 |
| 1-115615557-T-C | c.141A>G | p.S47= | Synonymous | 2/8 | - | 4 |
| 1-115615557-T-G | c.141A>C | p.S47= | Synonymous | 2/8 | - | 3 |
| 1-115615558-G-A | c.140C>T | p.S47L | Missense | 2/8 | - | 3 |
| 1-115615561-G-A | c.137C>T | p.S46L | Missense | 2/8 | - | 2 |
| 1-115615561-G-T | c.137C>A | p.S46* | Nonsense | 2/8 | - | 1 |
| 1-115615562-A-G | c.136T>C | p.S46P | Missense | 2/8 | - | 1 |
| 1-115615566-C-T | c.132G>A | p.E44= | Synonymous | 2/8 | - | 1 |
| 1-115615567-T-A | c.131A>T | p.E44V | Missense | 2/8 | - | 1 |
| 1-115615568-C-T | c.130G>A | p.E44K | Missense | 2/8 | - | 2 |
| 1-115615569-C-T | c.129G>A | p.K43= | Synonymous | 2/8 | - | 2 |
| 1-115615570-T-G | c.128A>C | p.K43T | Missense | 2/8 | - | 1 |
| 1-115615571-T-TA | c.126_127insT | p.K43* | Nonsense | 2/8 | - | 1 |
| 1-115615573-A-G | c.125T>C | p.I42T | Missense | 2/8 | - | 1 |
| 1-115615583-C-G | c.115G>C | p.G39R | Missense | 2/8 | - | 3 |
| 1-115615583-C-T | c.115G>A | p.G39R | Missense | 2/8 | - | 2 |
| 1-115615584-G-A | c.114C>T | p.F38= | Synonymous | 2/8 | - | 5 |
| 1-115615588-C-T | c.110G>A | p.R37Q | Missense | 2/8 | - | 1 |
| 1-115615589-G-A | c.109C>T | p.R37W | Missense | 2/8 | - | 13 |
| 1-115615597-A-T | c.101T>A | p.L34Q | Missense | 2/8 | - | 1 |
| 1-115615599-T-A | c.99A>T | p.G33= | Synonymous | 2/8 | - | 1 |
| 1-115615599-T-C | c.99A>G | p.G33= | Synonymous | 2/8 | - | 1 |
| 1-115615599-T-G | c.99A>C | p.G33= | Synonymous | 2/8 | - | 1 |
| 1-115615601-C-T | c.97G>A | p.G33R | Missense | 2/8 | - | 1 |
| 1-115615606-GC-CA | c.91_92delinsTG | p.A31C | Missense | 2/8 | - | 1 |
| 1-115615613-C-T | c.85G>A | p.V29I | Missense | 2/8 | - | 2 |
| 1-115615618-G-A | c.80C>T | p.S27L | Missense | 2/8 | - | 5 |
| 1-115615622-C-G | c.76G>C | p.G26R | Missense | 2/8 | - | 2 |
| 1-115615622-C-T | c.76G>A | p.G26R | Missense | 2/8 | - | 5 |
| 1-115615626-C-T | c.72G>A | p.L24= | Synonymous | 2/8 | - | 2 |
| 1-115615627-A-G | c.71T>C | p.L24P | Missense | 2/8 | - | 1 |
| 1-115615628-G-T | c.70C>A | p.L24M | Missense | 2/8 | - | 1 |
| 1-115617856-T-C | c.70-2228A>G | - | IntronicSNV | - | 1/7 | 1 |
| 1-115624404-A-G | c.69+7581T>C | - | IntronicSNV | - | 1/7 | 1 |
| 1-115625696-T-G | c.69+6289A>C | - | IntronicSNV | - | 1/7 | 1 |
| 1-115628445-C-G | c.69+3540G>C | - | IntronicSNV | - | 1/7 | 1 |
| 1-115628457-G-A | c.69+3528C>T | - | IntronicSNV | - | 1/7 | 1 |
| 1-115631628-A-G | c.69+357T>C | - | IntronicSNV | - | 1/7 | 1 |
| 1-115631645-A-C | c.69+340T>G | - | IntronicSNV | - | 1/7 | 1 |
| 1-115631645-A-ACTGCCAGGGC | c.69+339_69+340insGCCCTGGCAG | - | IntronicInsertion | - | 1/7 | 1 |
| 1-115631924-C-T | c.69+61G>A | - | IntronicSNV | - | 1/7 | 7 |
| 1-115631937-G-C | c.69+48C>G | - | IntronicSNV | - | 1/7 | 1 |
| 1-115631940-A-C | c.69+45T>G | - | IntronicSNV | - | 1/7 | 1 |
| 1-115631944-G-C | c.69+41C>G | - | IntronicSNV | - | 1/7 | 1 |
| 1-115631983-A-G | c.69+2T>C | - | IntronicSNV | - | 1/7 | 1 |
| 1-115631991-G-A | c.63C>T | p.L21= | Synonymous | 1/8 | - | 1 |
| 1-115631993-G-A | c.61C>T | p.L21F | Missense | 1/8 | - | 1 |
| 1-115632002-A-G | c.52T>C | p.F18L | Missense | 1/8 | - | 1 |
| 1-115632008-G-T | c.46C>A | p.L16I | Missense | 1/8 | - | 1 |
| 1-115632022-A-G | c.32T>C | p.I11T | Missense | 1/8 | - | 1 |
| 1-115632024-G-A | c.30C>T | p.C10= | Synonymous | 1/8 | - | 1 |
| 1-115632024-G-T | c.30C>A | p.C10* | Nonsense | 1/8 | - | 1 |
| 1-115632026-A-G | c.28T>C | p.C10R | Missense | 1/8 | - | 1 |
| 1-115632033-G-A | c.21C>T | p.G7= | Synonymous | 1/8 | - | 2 |
| 1-115632034-C-T | c.20G>A | p.G7D | Missense | 1/8 | - | 1 |
| 1-115632035-C-T | c.19G>A | p.G7S | Missense | 1/8 | - | 2 |
| 1-115632040-C-T | c.14G>A | p.R5H | Missense | 1/8 | - | 1 |
| 1-115632048-C-T | c.6G>A | p.G2= | Synonymous | 1/8 | - | 1 |
| 1-115632050-C-T | c.4G>A | p.G2R | Missense | 1/8 | - | 1 |
| 1-115632082-C-A | c.-29G>T | - | 5-UTRSNV | 1/8 | - | 1 |
| 1-115632082-C-G | c.-29G>C | - | 5-UTRSNV | 1/8 | - | 1 |
| 1-115632082-C-T | c.-29G>A | - | 5-UTRSNV | 1/8 | - | 1 |
| 1-115632122-G-A | c.-69C>T | - | IntergenicSNV | 1/8 | - | 1 |