| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 7-150159719-T-A | c.-28-4040T>A | - | IntronicSNV | - | 1/4 | 1 |
| 7-150163793-G-A | c.7G>A | p.E3K | Missense | 2/5 | - | 1 |
| 7-150163795-G-T | c.9G>T | p.E3D | Missense | 2/5 | - | 1 |
| 7-150163798-G-A | c.12G>A | p.Q4= | Synonymous | 2/5 | - | 1 |
| 7-150163798-G-C | c.12G>C | p.Q4H | Missense | 2/5 | - | 1 |
| 7-150163798-G-T | c.12G>T | p.Q4H | Missense | 2/5 | - | 1 |
| 7-150163799-A-G | c.13A>G | p.S5G | Missense | 2/5 | - | 1 |
| 7-150163799-A-C | c.13A>C | p.S5R | Missense | 2/5 | - | 1 |
| 7-150163801-C-A | c.15C>A | p.S5R | Missense | 2/5 | - | 1 |
| 7-150163801-C-G | c.15C>G | p.S5R | Missense | 2/5 | - | 1 |
| 7-150163810-G-A | c.24G>A | p.M8I | Missense | 2/5 | - | 3 |
| 7-150163810-G-C | c.24G>C | p.M8I | Missense | 2/5 | - | 1 |
| 7-150163810-G-T | c.24G>T | p.M8I | Missense | 2/5 | - | 1 |
| 7-150163813-C-A | c.27C>A | p.S9= | Synonymous | 2/5 | - | 2 |
| 7-150163813-C-G | c.27C>G | p.S9= | Synonymous | 2/5 | - | 2 |
| 7-150163813-C-T | c.27C>T | p.S9= | Synonymous | 2/5 | - | 3 |
| 7-150163814-G-A | c.28G>A | p.E10K | Missense | 2/5 | - | 6 |
| 7-150163821-GG-AT | c.35_36delinsAT | p.R12H | Missense | 2/5 | - | 1 |
| 7-150163824-T-C | c.38T>C | p.L13P | Missense | 2/5 | - | 2 |
| 7-150163828-C-A | c.42C>A | p.L14= | Synonymous | 2/5 | - | 1 |
| 7-150163828-C-G | c.42C>G | p.L14= | Synonymous | 2/5 | - | 1 |
| 7-150163828-C-T | c.42C>T | p.L14= | Synonymous | 2/5 | - | 1 |
| 7-150163829-C-T | c.43C>T | p.L15F | Missense | 2/5 | - | 3 |
| 7-150163835-G-A | c.49G>A | p.G17R | Missense | 2/5 | - | 4 |
| 7-150163835-G-T | c.49G>T | p.G17* | Nonsense | 2/5 | - | 1 |
| 7-150163836-G-A | c.50G>A | p.G17E | Missense | 2/5 | - | 7 |
| 7-150163837-A-C | c.51A>C | p.G17= | Synonymous | 2/5 | - | 10 |
| 7-150163837-A-G | c.51A>G | p.G17= | Synonymous | 2/5 | - | 13 |
| 7-150163837-A-T | c.51A>T | p.G17= | Synonymous | 2/5 | - | 2 |
| 7-150163842-G-A | c.56G>A | p.C19Y | Missense | 2/5 | - | 2 |
| 7-150163848-C-T | c.62C>T | p.S21L | Missense | 2/5 | - | 5 |
| 7-150163849-G-A | c.63G>A | p.S21= | Synonymous | 2/5 | - | 1 |
| 7-150163850-G-A | c.64G>A | p.G22R | Missense | 2/5 | - | 2 |
| 7-150163850-G-C | c.64G>C | p.G22R | Missense | 2/5 | - | 1 |
| 7-150163850-GG-AA | c.64_65delinsAA | p.G22K | Missense | 2/5 | - | 3 |
| 7-150163851-G-A | c.65G>A | p.G22E | Missense | 2/5 | - | 4 |
| 7-150163851-G-T | c.65G>T | p.G22V | Missense | 2/5 | - | 1 |
| 7-150163851-GA-G | c.70del | p.S24Vfs*22 | Frameshift | 2/5 | - | 1 |
| 7-150163856-A-T | c.70A>T | p.S24C | Missense | 2/5 | - | 1 |
| 7-150163859-GC-TG | c.73_74delinsTG | p.A25C | Missense | 2/5 | - | 1 |
| 7-150163859-GC-TT | c.73_74delinsTT | p.A25F | Missense | 2/5 | - | 1 |
| 7-150163860-C-A | c.74C>A | p.A25D | Missense | 2/5 | - | 2 |
| 7-150163860-CC-AG | c.74_75delinsAG | p.A25E | Missense | 2/5 | - | 1 |
| 7-150163861-C-A | c.75C>A | p.A25= | Synonymous | 2/5 | - | 1 |
| 7-150163861-C-G | c.75C>G | p.A25= | Synonymous | 2/5 | - | 1 |
| 7-150163861-C-T | c.75C>T | p.A25= | Synonymous | 2/5 | - | 1 |
| 7-150163866-G-A | c.80G>A | p.G27E | Missense | 2/5 | - | 4 |
| 7-150163868-A-G | c.82A>G | p.N28D | Missense | 2/5 | - | 4 |
| 7-150163871-GC-AT | c.85_86delinsAT | p.A29I | Missense | 2/5 | - | 1 |
| 7-150163871-GC-CG | c.85_86delinsCG | p.A29R | Missense | 2/5 | - | 2 |
| 7-150163871-GC-CT | c.85_86delinsCT | p.A29L | Missense | 2/5 | - | 3 |
| 7-150163871-G-T | c.85G>T | p.A29S | Missense | 2/5 | - | 1 |
| 7-150163872-C-A | c.86C>A | p.A29D | Missense | 2/5 | - | 2 |
| 7-150163872-CC-AG | c.86_87delinsAG | p.A29E | Missense | 2/5 | - | 2 |
| 7-150163872-C-G | c.86C>G | p.A29G | Missense | 2/5 | - | 3 |
| 7-150163878-T-C | c.92T>C | p.L31P | Missense | 2/5 | - | 1 |
| 7-150163880-G-A | c.94G>A | p.G32S | Missense | 2/5 | - | 1 |
| 7-150163880-G-C | c.94G>C | p.G32R | Missense | 2/5 | - | 1 |
| 7-150163881-G-A | c.95G>A | p.G32D | Missense | 2/5 | - | 1 |
| 7-150163886-C-T | c.100C>T | p.H34Y | Missense | 2/5 | - | 1 |
| 7-150163894-C-T | c.108C>T | p.F36= | Synonymous | 2/5 | - | 1 |
| 7-150163896-A-C | c.110A>C | p.K37T | Missense | 2/5 | - | 4 |
| 7-150163900-C-T | c.114C>T | p.S38= | Synonymous | 2/5 | - | 2 |
| 7-150163903-AGTTCAGTGATCAGACAGTGATCAAAATGTGCCAGAGAGAG-A | c.117_156del | p.F40Vfs*4 | Frameshift | 2/5 | - | 1 |
| 7-150163904-T-A | c.118T>A | p.F40I | Missense | 2/5 | - | 1 |
| 7-150163905-T-C | c.119T>C | p.F40S | Missense | 2/5 | - | 1 |
| 7-150163910-G-A | c.124G>A | p.D42N | Missense | 2/5 | - | 4 |
| 7-150163915-G-A | c.129G>A | p.Q43= | Synonymous | 2/5 | - | 2 |
| 7-150163915-G-C | c.129G>C | p.Q43H | Missense | 2/5 | - | 1 |
| 7-150163915-G-T | c.129G>T | p.Q43H | Missense | 2/5 | - | 1 |
| 7-150163920-T-C | c.134T>C | p.V45A | Missense | 2/5 | - | 1 |
| 7-150163923-T-C | c.137T>C | p.I46T | Missense | 2/5 | - | 1 |
| 7-150163924-C-G | c.138C>G | p.I46M | Missense | 2/5 | - | 1 |
| 7-150163924-C-T | c.138C>T | p.I46= | Synonymous | 2/5 | - | 2 |
| 7-150163925-A-C | c.139A>C | p.K47Q | Missense | 2/5 | - | 1 |
| 7-150163934-C-G | c.148C>G | p.Q50E | Missense | 2/5 | - | 2 |
| 7-150163938-G-A | c.152G>A | p.R51K | Missense | 2/5 | - | 5 |
| 7-150163940-G-A | c.154G>A | p.E52K | Missense | 2/5 | - | 2 |
| 7-150163942-G-A | c.156G>A | p.E52= | Synonymous | 2/5 | - | 3 |
| 7-150163942-G-C | c.156G>C | p.E52D | Missense | 2/5 | - | 1 |
| 7-150163942-G-T | c.156G>T | p.E52D | Missense | 2/5 | - | 1 |
| 7-150163934-CAG-C | c.157_158del | p.S53Lfs*12 | Frameshift | 2/5 | - | 1 |
| 7-150163944-G-A | c.158G>A | p.S53N | Missense | 2/5 | - | 1 |
| 7-150163950-T-C | c.164T>C | p.V55A | Missense | 2/5 | - | 1 |
| 7-150163951-C-T | c.165C>T | p.V55= | Synonymous | 2/5 | - | 1 |
| 7-150163952-C-A | c.166C>A | p.L56M | Missense | 2/5 | - | 3 |
| 7-150163958-G-A | c.172G>A | p.E58K | Missense | 2/5 | - | 8 |
| 7-150163962-G-A | c.176G>A | p.R59K | Missense | 2/5 | - | 1 |
| 7-150163967-G-A | c.181G>A | p.V61I | Missense | 2/5 | - | 2 |
| 7-150163968-T-C | c.182T>C | p.V61A | Missense | 2/5 | - | 1 |
| 7-150163973-G-A | c.187G>A | p.V63I | Missense | 2/5 | - | 2 |
| 7-150163979-G-T | c.193G>T | p.D65Y | Missense | 2/5 | - | 1 |
| 7-150163983-C-T | c.197C>T | p.T66I | Missense | 2/5 | - | 2 |
| 7-150163984-C-G | c.198C>G | p.T66= | Synonymous | 2/5 | - | 1 |
| 7-150163984-C-T | c.198C>T | p.T66= | Synonymous | 2/5 | - | 1 |
| 7-150163985-C-A | c.199C>A | p.P67T | Missense | 2/5 | - | 1 |
| 7-150163986-C-G | c.200C>G | p.P67R | Missense | 2/5 | - | 1 |
| 7-150163991-C-A | c.205C>A | p.L69I | Missense | 2/5 | - | 3 |
| 7-150163991-C-T | c.205C>T | p.L69F | Missense | 2/5 | - | 2 |
| 7-150163996-C-T | c.210C>T | p.F70= | Synonymous | 2/5 | - | 1 |
| 7-150163998-C-T | c.212C>T | p.S71F | Missense | 2/5 | - | 4 |
| 7-150163999-C-T | c.213C>T | p.S71= | Synonymous | 2/5 | - | 1 |
| 7-150164000-T-C | c.214T>C | p.S72P | Missense | 2/5 | - | 1 |
| 7-150164001-C-T | c.215C>T | p.S72L | Missense | 2/5 | - | 3 |
| 7-150164004-T-C | c.218T>C | p.I73T | Missense | 2/5 | - | 1 |
| 7-150164006-G-T | c.220G>T | p.A74S | Missense | 2/5 | - | 1 |
| 7-150164008-T-A | c.222T>A | p.A74= | Synonymous | 2/5 | - | 1 |
| 7-150164008-T-C | c.222T>C | p.A74= | Synonymous | 2/5 | - | 1 |
| 7-150164008-T-G | c.222T>G | p.A74= | Synonymous | 2/5 | - | 1 |
| 7-150164011-T-A | c.225T>A | p.C75* | Nonsense | 2/5 | - | 1 |
| 7-150164022-A-C | c.236A>C | p.K79T | Missense | 2/5 | - | 1 |
| 7-150164023-G-C | c.237G>C | p.K79N | Missense | 2/5 | - | 1 |
| 7-150164023-G-T | c.237G>T | p.K79N | Missense | 2/5 | - | 1 |
| 7-150164027-C-T | c.241C>T | p.R81C | Missense | 2/5 | - | 2 |
| 7-150164028-G-A | c.242G>A | p.R81H | Missense | 2/5 | - | 5 |
| 7-150164028-G-C | c.242G>C | p.R81P | Missense | 2/5 | - | 1 |
| 7-150164035-C-G | c.249C>G | p.I83M | Missense | 2/5 | - | 1 |
| 7-150164039-ACACTGCTTGGAGCTCTCT-A | c.253_270del | p.H85_S90del | InFrameDeletion | 2/5 | - | 1 |
| 7-150164040-A-G | c.254A>G | p.H85R | Missense | 2/5 | - | 1 |
| 7-150164043-G-T | c.257G>T | p.C86F | Missense | 2/5 | - | 2 |
| 7-150164048-G-A | c.262G>A | p.E88K | Missense | 2/5 | - | 1 |
| 7-150164051-C-T | c.265C>T | p.L89F | Missense | 2/5 | - | 1 |
| 7-150164055-C-G | c.269C>G | p.S90C | Missense | 2/5 | - | 2 |
| 7-150164057-G-A | c.271G>A | p.A91T | Missense | 2/5 | - | 1 |
| 7-150164059-T-A | c.273T>A | p.A91= | Synonymous | 2/5 | - | 4 |
| 7-150164059-T-C | c.273T>C | p.A91= | Synonymous | 2/5 | - | 4 |
| 7-150164059-T-G | c.273T>G | p.A91= | Synonymous | 2/5 | - | 4 |
| 7-150164060-C-T | c.274C>T | p.P92S | Missense | 2/5 | - | 2 |
| 7-150164061-C-A | c.275C>A | p.P92H | Missense | 2/5 | - | 2 |
| 7-150164061-C-T | c.275C>T | p.P92L | Missense | 2/5 | - | 2 |
| 7-150164062-C-A | c.276C>A | p.P92= | Synonymous | 2/5 | - | 1 |
| 7-150164062-C-G | c.276C>G | p.P92= | Synonymous | 2/5 | - | 1 |
| 7-150164062-C-T | c.276C>T | p.P92= | Synonymous | 2/5 | - | 1 |
| 7-150164064-G-A | c.278G>A | p.S93N | Missense | 2/5 | - | 2 |
| 7-150164069-C-T | c.283C>T | p.H95Y | Missense | 2/5 | - | 3 |
| 7-150164070-A-G | c.284A>G | p.H95R | Missense | 2/5 | - | 1 |
| 7-150164071-ATG-A | c.285_286del | p.A96Sfs*15 | Frameshift | 2/5 | - | 1 |
| 7-150164074-T-A | c.288T>A | p.A96= | Synonymous | 2/5 | - | 1 |
| 7-150164074-T-C | c.288T>C | p.A96= | Synonymous | 2/5 | - | 1 |
| 7-150164074-T-G | c.288T>G | p.A96= | Synonymous | 2/5 | - | 1 |
| 7-150164078-C-T | c.292C>T | p.L98F | Missense | 2/5 | - | 6 |
| 7-150164088-T-G | c.302T>G | p.I101S | Missense | 2/5 | - | 3 |
| 7-150164089-T-C | c.303T>C | p.I101= | Synonymous | 2/5 | - | 1 |
| 7-150164090-G-A | c.304G>A | p.A102T | Missense | 2/5 | - | 4 |
| 7-150164091-C-T | c.305C>T | p.A102V | Missense | 2/5 | - | 3 |
| 7-150164095-C-A | c.309C>A | p.I103= | Synonymous | 2/5 | - | 2 |
| 7-150164095-C-T | c.309C>T | p.I103= | Synonymous | 2/5 | - | 5 |
| 7-150164096-G-A | c.310G>A | p.G104S | Missense | 2/5 | - | 5 |
| 7-150164098-C-A | c.312C>A | p.G104= | Synonymous | 2/5 | - | 2 |
| 7-150164098-C-G | c.312C>G | p.G104= | Synonymous | 2/5 | - | 2 |
| 7-150164098-C-T | c.312C>T | p.G104= | Synonymous | 2/5 | - | 3 |
| 7-150164099-C-A | c.313C>A | p.H105N | Missense | 2/5 | - | 1 |
| 7-150164104-C-T | c.318C>T | p.F106= | Synonymous | 2/5 | - | 5 |
| 7-150164105-A-G | c.319A>G | p.T107A | Missense | 2/5 | - | 1 |
| 7-150164106-C-A | c.320C>A | p.T107K | Missense | 2/5 | - | 1 |
| 7-150164109-G-T | c.323G>T | p.R108M | Missense | 2/5 | - | 1 |
| 7-150164111-G-A | c.325G>A | p.E109K | Missense | 2/5 | - | 10 |
| 7-150164111-GAGGATGAGGA-G | c.327_336del | p.D110Qfs*81 | Frameshift | 2/5 | - | 1 |
| 7-150164113-G-A | c.327G>A | p.E109= | Synonymous | 2/5 | - | 3 |
| 7-150164116-T-C | c.330T>C | p.D110= | Synonymous | 2/5 | - | 1 |
| 7-150164120-G-A | c.334G>A | p.E112K | Missense | 2/5 | - | 4 |
| 7-150164122-A-C | c.336A>C | p.E112D | Missense | 2/5 | - | 2 |
| 7-150164122-A-T | c.336A>T | p.E112D | Missense | 2/5 | - | 2 |
| 7-150164123-A-G | c.337A>G | p.T113A | Missense | 2/5 | - | 1 |
| 7-150164124-CA-TG | c.338_339inv | p.T113M | Missense | 2/5 | - | 1 |
| 7-150164126-G-A | c.340G>A | p.A114T | Missense | 2/5 | - | 3 |
| 7-150164127-C-T | c.341C>T | p.A114V | Missense | 2/5 | - | 1 |
| 7-150164130-A-C | c.344A>C | p.K115T | Missense | 2/5 | - | 1 |
| 7-150164131-G-A | c.345G>A | p.K115= | Synonymous | 2/5 | - | 1 |
| 7-150164131-G-C | c.345G>C | p.K115N | Missense | 2/5 | - | 1 |
| 7-150164131-G-T | c.345G>T | p.K115N | Missense | 2/5 | - | 1 |
| 7-150164137-C-T | c.351C>T | p.I117= | Synonymous | 2/5 | - | 1 |
| 7-150164142-A-G | c.356A>G | p.Q119R | Missense | 2/5 | - | 1 |
| 7-150164142-AAGTGTTTGG-A | c.359_367del | p.V120_G122del | InFrameDeletion | 2/5 | - | 1 |
| 7-150164145-T-G | c.359T>G | p.V120G | Missense | 2/5 | - | 2 |
| 7-150164151-G-A | c.365G>A | p.G122E | Missense | 2/5 | - | 4 |
| 7-150164155-T-A | c.369T>A | p.A123= | Synonymous | 2/5 | - | 1 |
| 7-150164155-T-C | c.369T>C | p.A123= | Synonymous | 2/5 | - | 2 |
| 7-150164155-T-G | c.369T>G | p.A123= | Synonymous | 2/5 | - | 1 |
| 7-150164156-G-A | c.370G>A | p.E124K | Missense | 2/5 | - | 3 |
| 7-150164159-G-A | c.373G>A | p.A125T | Missense | 2/5 | - | 1 |
| 7-150164160-C-T | c.374C>T | p.A125V | Missense | 2/5 | - | 1 |
| 7-150164173-C-A | c.387C>A | p.I129= | Synonymous | 2/5 | - | 1 |
| 7-150164173-C-T | c.387C>T | p.I129= | Synonymous | 2/5 | - | 3 |
| 7-150164174-A-G | c.388A>G | p.I130V | Missense | 2/5 | - | 1 |
| 7-150164176-T-G | c.390T>G | p.I130M | Missense | 2/5 | - | 1 |
| 7-150164179-T-G | c.393T>G | p.I131M | Missense | 2/5 | - | 1 |
| 7-150164183-T-C | c.397T>C | p.F133L | Missense | 2/5 | - | 1 |
| 7-150164185-C-A | c.399C>A | p.F133L | Missense | 2/5 | - | 1 |
| 7-150164185-C-G | c.399C>G | p.F133L | Missense | 2/5 | - | 1 |
| 7-150164184-TC-AA | c.398_399delinsAA | p.F133* | Nonsense | 2/5 | - | 1 |
| 7-150164189-C-A | c.403C>A | p.R135= | Synonymous | 2/5 | - | 2 |
| 7-150164189-C-G | c.403C>G | p.R135G | Missense | 2/5 | - | 3 |
| 7-150164189-C-T | c.403C>T | p.R135W | Missense | 2/5 | - | 1 |
| 7-150164191-G-C | c.405G>C | p.R135= | Synonymous | 2/5 | - | 2 |
| 7-150164191-G-T | c.405G>T | p.R135= | Synonymous | 2/5 | - | 2 |
| 7-150164190-G-A | c.404G>A | p.R135Q | Missense | 2/5 | - | 6 |
| 7-150164190-G-C | c.404G>C | p.R135P | Missense | 2/5 | - | 1 |
| 7-150164191-G-A | c.405G>A | p.R135= | Synonymous | 2/5 | - | 5 |
| 7-150164196-A-G | c.410A>G | p.D137G | Missense | 2/5 | - | 1 |
| 7-150164198-G-A | c.412G>A | p.D138N | Missense | 2/5 | - | 8 |
| 7-150164199-A-G | c.413A>G | p.D138G | Missense | 2/5 | - | 1 |
| 7-150164201-T-G | c.415T>G | p.L139V | Missense | 2/5 | - | 1 |
| 7-150164204-G-T | c.418G>T | p.G140W | Missense | 2/5 | - | 3 |
| 7-150164205-G-T | c.419G>T | p.G140V | Missense | 2/5 | - | 4 |
| 7-150164202-TG-T | c.421del | p.D141Mfs*53 | Frameshift | 2/5 | - | 1 |
| 7-150164207-G-A | c.421G>A | p.D141N | Missense | 2/5 | - | 2 |
| 7-150164215-G-C | c.429G>C | p.L143F | Missense | 2/5 | - | 2 |
| 7-150164216-C-A | c.430C>A | p.L144M | Missense | 2/5 | - | 3 |
| 7-150164220-A-C | c.434A>C | p.Q145P | Missense | 2/5 | - | 1 |
| 7-150164222-G-A | c.436G>A | p.D146N | Missense | 2/5 | - | 3 |
| 7-150164222-G-T | c.436G>T | p.D146Y | Missense | 2/5 | - | 2 |
| 7-150164227-C-T | c.441C>T | p.F147= | Synonymous | 2/5 | - | 4 |
| 7-150164231-G-A | c.445G>A | p.E149K | Missense | 2/5 | - | 2 |
| 7-150164234-A-G | c.448A>G | p.K150E | Missense | 2/5 | - | 2 |
| 7-150164236-A-AT | c.450_451insT | p.N151* | Nonsense | 2/5 | - | 1 |
| 7-150164231-GA-G | c.452del | p.N151Tfs*43 | Frameshift | 2/5 | - | 2 |
| 7-150164231-G-GA | c.452dup | p.N151Kfs*12 | Frameshift | 2/5 | - | 7 |
| 7-150164240-A-C | c.454A>C | p.K152Q | Missense | 2/5 | - | 1 |
| 7-150164248-C-A | c.462C>A | p.L154= | Synonymous | 2/5 | - | 1 |
| 7-150164248-C-G | c.462C>G | p.L154= | Synonymous | 2/5 | - | 1 |
| 7-150164248-C-T | c.462C>T | p.L154= | Synonymous | 2/5 | - | 1 |
| 7-150164249-A-T | c.463A>T | p.K155* | Nonsense | 2/5 | - | 1 |
| 7-150164252-C-T | c.466C>T | p.Q156* | Nonsense | 2/5 | - | 1 |
| 7-150164261-C-T | c.475C>T | p.Q159* | Nonsense | 2/5 | - | 1 |
| 7-150164267-T-A | c.481T>A | p.Y161N | Missense | 2/5 | - | 3 |
| 7-150164276-C-T | c.490C>T | p.R164* | Nonsense | 2/5 | - | 3 |
| 7-150164277-G-A | c.491G>A | p.R164Q | Missense | 2/5 | - | 5 |
| 7-150164279-T-C | c.493T>C | p.Y165H | Missense | 2/5 | - | 6 |
| 7-150164283-G-A | c.497G>A | p.C166Y | Missense | 2/5 | - | 2 |
| 7-150164288-T-C | c.502T>C | p.F168L | Missense | 2/5 | - | 1 |
| 7-150164290-C-A | c.504C>A | p.F168L | Missense | 2/5 | - | 1 |
| 7-150164290-C-G | c.504C>G | p.F168L | Missense | 2/5 | - | 1 |
| 7-150164289-T-A | c.503T>A | p.F168Y | Missense | 2/5 | - | 2 |
| 7-150164289-TCAA-T | c.510_512del | p.N170del | InFrameDeletion | 2/5 | - | 2 |
| 7-150164297-A-C | c.511A>C | p.K171Q | Missense | 2/5 | - | 1 |
| 7-150164299-G-A | c.513G>A | p.K171= | Synonymous | 2/5 | - | 4 |
| 7-150164301-C-T | c.515C>T | p.T172I | Missense | 2/5 | - | 1 |
| 7-150164306-A-G | c.520A>G | p.S174G | Missense | 2/5 | - | 2 |
| 7-150164312-G-A | c.526G>A | p.D176N | Missense | 2/5 | - | 5 |
| 7-150164320-G-A | c.534G>A | p.Q178= | Synonymous | 2/5 | - | 1 |
| 7-150164323-C-T | c.537C>T | p.I179= | Synonymous | 2/5 | - | 2 |
| 7-150164325-C-T | c.539C>T | p.T180I | Missense | 2/5 | - | 1 |
| 7-150164338-G-A | c.552G>A | p.E184= | Synonymous | 2/5 | - | 1 |
| 7-150164341-C-A | c.555C>A | p.L185= | Synonymous | 2/5 | - | 1 |
| 7-150164341-C-G | c.555C>G | p.L185= | Synonymous | 2/5 | - | 3 |
| 7-150164341-C-T | c.555C>T | p.L185= | Synonymous | 2/5 | - | 5 |
| 7-150164345-C-T | c.559C>T | p.R187C | Missense | 2/5 | - | 2 |
| 7-150164346-G-A | c.560G>A | p.R187H | Missense | 2/5 | - | 4 |
| 7-150164346-G-T | c.560G>T | p.R187L | Missense | 2/5 | - | 2 |
| 7-150164352-T-C | c.566T>C | p.V189A | Missense | 2/5 | - | 4 |
| 7-150164356-G-C | c.570G>C | p.E190D | Missense | 2/5 | - | 1 |
| 7-150164356-G-T | c.570G>T | p.E190D | Missense | 2/5 | - | 1 |
| 7-150164358-C-A | c.572C>A | p.S191Y | Missense | 2/5 | - | 3 |
| 7-150164363-G-A | c.577G>A | p.V193M | Missense | 2/5 | - | 2 |
| 7-150164369-A-G | c.583A>G | p.T195A | Missense | 2/5 | - | 2 |
| 7-150164370-CG-TC | c.584_585delinsTC | p.T195I | Missense | 2/5 | - | 1 |
| 7-150164370-C-T | c.584C>T | p.T195M | Missense | 2/5 | - | 1 |
| 7-150164371-G-A | c.585G>A | p.T195= | Synonymous | 2/5 | - | 7 |
| 7-150164371-G-C | c.585G>C | p.T195= | Synonymous | 2/5 | - | 4 |
| 7-150164371-G-T | c.585G>T | p.T195= | Synonymous | 2/5 | - | 4 |
| 7-150164374-C-T | c.588C>T | p.N196= | Synonymous | 2/5 | - | 1 |
| 7-150164375-G-A | c.589G>A | p.G197R | Missense | 2/5 | - | 6 |
| 7-150164375-GG-AA | c.589_590delinsAA | p.G197K | Missense | 2/5 | - | 1 |
| 7-150164377-A-T | c.591A>T | p.G197= | Synonymous | 2/5 | - | 1 |
| 7-150164382-C-T | c.596C>T | p.P199L | Missense | 2/5 | - | 4 |
| 7-150164383-C-T | c.597C>T | p.P199= | Synonymous | 2/5 | - | 4 |
| 7-150164387-C-T | c.601C>T | p.H201Y | Missense | 2/5 | - | 2 |
| 7-150164390-G-A | c.604G>A | p.V202M | Missense | 2/5 | - | 2 |
| 7-150164398-C-T | c.612C>T | p.F204= | Synonymous | 2/5 | - | 2 |
| 7-150164402-A-G | c.616A>G | p.T206A | Missense | 2/5 | - | 8 |
| 7-150164408-G-T | c.622G>T | p.G208C | Missense | 2/5 | - | 1 |
| 7-150164410-C-A | c.624C>A | p.G208= | Synonymous | 2/5 | - | 2 |
| 7-150164410-C-G | c.624C>G | p.G208= | Synonymous | 2/5 | - | 2 |
| 7-150164410-C-T | c.624C>T | p.G208= | Synonymous | 2/5 | - | 2 |
| 7-150164415-G-A | c.629G>A | p.R210K | Missense | 2/5 | - | 2 |
| 7-150164422-A-C | c.636A>C | p.Q212H | Missense | 2/5 | - | 1 |
| 7-150164422-A-T | c.636A>T | p.Q212H | Missense | 2/5 | - | 1 |
| 7-150167857-C-T | c.637-60C>T | - | IntronicSNV | - | 2/4 | 3 |
| 7-150167858-A-T | c.637-59A>T | - | IntronicSNV | - | 2/4 | 2 |
| 7-150167859-G-T | c.637-58G>T | - | IntronicSNV | - | 2/4 | 1 |
| 7-150167921-G-A | c.641G>A | p.C214Y | Missense | 3/5 | - | 2 |
| 7-150167921-G-T | c.641G>T | p.C214F | Missense | 3/5 | - | 1 |
| 7-150167925-G-A | c.645G>A | p.V215= | Synonymous | 3/5 | - | 1 |
| 7-150167925-G-C | c.645G>C | p.V215= | Synonymous | 3/5 | - | 3 |
| 7-150167925-G-T | c.645G>T | p.V215= | Synonymous | 3/5 | - | 1 |
| 7-150167935-G-A | c.655G>A | p.A219T | Missense | 3/5 | - | 1 |
| 7-150167936-C-A | c.656C>A | p.A219E | Missense | 3/5 | - | 1 |
| 7-150167936-C-CA | c.657dup | p.S220Ifs*59 | Frameshift | 3/5 | - | 1 |
| 7-150167942-A-C | c.662A>C | p.Q221P | Missense | 3/5 | - | 1 |
| 7-150167944-G-A | c.664G>A | p.E222K | Missense | 3/5 | - | 3 |
| 7-150167946-G-A | c.666G>A | p.E222= | Synonymous | 3/5 | - | 1 |
| 7-150167947-G-A | c.667G>A | p.G223R | Missense | 3/5 | - | 2 |
| 7-150167947-G-C | c.667G>C | p.G223R | Missense | 3/5 | - | 2 |
| 7-150167950-G-A | c.670G>A | p.D224N | Missense | 3/5 | - | 1 |
| 7-150167951-A-T | c.671A>T | p.D224V | Missense | 3/5 | - | 1 |
| 7-150167952-C-A | c.672C>A | p.D224E | Missense | 3/5 | - | 1 |
| 7-150167952-C-G | c.672C>G | p.D224E | Missense | 3/5 | - | 1 |
| 7-150167955-G-A | c.675G>A | p.K225= | Synonymous | 3/5 | - | 1 |
| 7-150167956-C-T | c.676C>T | p.P226S | Missense | 3/5 | - | 1 |
| 7-150167957-C-T | c.677C>T | p.P226L | Missense | 3/5 | - | 3 |
| 7-150167961-G-A | c.681G>A | p.Q227= | Synonymous | 3/5 | - | 1 |
| 7-150167961-G-C | c.681G>C | p.Q227H | Missense | 3/5 | - | 1 |
| 7-150167961-G-T | c.681G>T | p.Q227H | Missense | 3/5 | - | 1 |
| 7-150167962-G-C | c.682G>C | p.G228R | Missense | 3/5 | - | 4 |
| 7-150167962-G-T | c.682G>T | p.G228C | Missense | 3/5 | - | 3 |
| 7-150167963-G-A | c.682+1G>A | - | IntronicSNV | - | 3/4 | 2 |
| 7-150168058-A-AGAAT | c.682+99_682+100insTGAA | - | IntronicInsertion | - | 3/4 | 4 |
| 7-150170889-A-T | c.683-211A>T | - | IntronicSNV | - | 3/4 | 1 |
| 7-150171103-C-A | c.686C>A | p.P229Q | Missense | 4/5 | - | 1 |
| 7-150171105-A-C | c.688A>C | p.R230= | Synonymous | 4/5 | - | 1 |
| 7-150171107-G-A | c.690G>A | p.R230= | Synonymous | 4/5 | - | 1 |
| 7-150171108-G-A | c.691G>A | p.E231K | Missense | 4/5 | - | 5 |
| 7-150171112-G-A | c.695G>A | p.R232K | Missense | 4/5 | - | 4 |
| 7-150171113-G-C | c.696G>C | p.R232S | Missense | 4/5 | - | 1 |
| 7-150171113-G-T | c.696G>T | p.R232S | Missense | 4/5 | - | 1 |
| 7-150171124-C-A | c.707C>A | p.S236Y | Missense | 4/5 | - | 1 |
| 7-150171124-C-T | c.707C>T | p.S236F | Missense | 4/5 | - | 5 |
| 7-150171130-G-A | c.713G>A | p.G238E | Missense | 4/5 | - | 3 |
| 7-150171132-C-T | c.715C>T | p.P239S | Missense | 4/5 | - | 3 |
| 7-150171133-C-T | c.716C>T | p.P239L | Missense | 4/5 | - | 1 |
| 7-150171135-G-A | c.718G>A | p.E240K | Missense | 4/5 | - | 8 |
| 7-150171139-A-T | c.722A>T | p.Q241L | Missense | 4/5 | - | 1 |
| 7-150171141-A-T | c.724A>T | p.N242Y | Missense | 4/5 | - | 2 |
| 7-150171144-C-T | c.727C>T | p.P243S | Missense | 4/5 | - | 3 |
| 7-150171145-C-T | c.728C>T | p.P243L | Missense | 4/5 | - | 3 |
| 7-150171146-G-A | c.729G>A | p.P243= | Synonymous | 4/5 | - | 5 |
| 7-150171146-G-C | c.729G>C | p.P243= | Synonymous | 4/5 | - | 2 |
| 7-150171146-G-T | c.729G>T | p.P243= | Synonymous | 4/5 | - | 1 |
| 7-150171149-G-T | c.732G>T | p.G244= | Synonymous | 4/5 | - | 1 |
| 7-150171154-C-A | c.737C>A | p.S246* | Nonsense | 4/5 | - | 1 |
| 7-150171154-C-G | c.737C>G | p.S246* | Nonsense | 4/5 | - | 2 |
| 7-150171156-G-A | c.739G>A | p.E247K | Missense | 4/5 | - | 2 |
| 7-150171156-G-T | c.739G>T | p.E247* | Nonsense | 4/5 | - | 2 |
| 7-150171158-A-G | c.741A>G | p.E247= | Synonymous | 4/5 | - | 1 |
| 7-150171163-C-A | c.746C>A | p.T249K | Missense | 4/5 | - | 2 |
| 7-150171165-G-A | c.748G>A | p.V250I | Missense | 4/5 | - | 5 |
| 7-150171167-C-T | c.750C>T | p.V250= | Synonymous | 4/5 | - | 1 |
| 7-150171168-C-T | c.751C>T | p.L251F | Missense | 4/5 | - | 2 |
| 7-150171171-C-T | c.754C>T | p.L252F | Missense | 4/5 | - | 5 |
| 7-150171174-G-C | c.757G>C | p.V253L | Missense | 4/5 | - | 1 |
| 7-150171174-G-T | c.757G>T | p.V253L | Missense | 4/5 | - | 1 |
| 7-150171175-T-G | c.758T>G | p.V253G | Missense | 4/5 | - | 1 |
| 7-150171179-G-A | c.762G>A | p.G254= | Synonymous | 4/5 | - | 2 |
| 7-150171183-C-T | c.766C>T | p.R256C | Missense | 4/5 | - | 3 |
| 7-150171184-G-A | c.767G>A | p.R256H | Missense | 4/5 | - | 4 |
| 7-150171186-G-C | c.769G>C | p.G257R | Missense | 4/5 | - | 2 |
| 7-150171192-G-T | c.775G>T | p.G259* | Nonsense | 4/5 | - | 1 |
| 7-150171193-G-A | c.776G>A | p.G259E | Missense | 4/5 | - | 10 |
| 7-150171193-GA-G | c.781del | p.S261Vfs*22 | Frameshift | 4/5 | - | 1 |
| 7-150171203-A-C | c.786A>C | p.A262= | Synonymous | 4/5 | - | 1 |
| 7-150171203-A-G | c.786A>G | p.A262= | Synonymous | 4/5 | - | 1 |
| 7-150171203-A-T | c.786A>T | p.A262= | Synonymous | 4/5 | - | 1 |
| 7-150171204-G-A | c.787G>A | p.A263T | Missense | 4/5 | - | 1 |
| 7-150171208-G-A | c.791G>A | p.G264E | Missense | 4/5 | - | 5 |
| 7-150171211-A-G | c.794A>G | p.N265S | Missense | 4/5 | - | 1 |
| 7-150171214-G-A | c.797G>A | p.S266N | Missense | 4/5 | - | 4 |
| 7-150171222-G-A | c.805G>A | p.G269R | Missense | 4/5 | - | 1 |
| 7-150171222-G-T | c.805G>T | p.G269W | Missense | 4/5 | - | 1 |
| 7-150171223-G-A | c.806G>A | p.G269E | Missense | 4/5 | - | 1 |
| 7-150171223-G-T | c.806G>T | p.G269V | Missense | 4/5 | - | 1 |
| 7-150171224-G-A | c.807G>A | p.G269= | Synonymous | 4/5 | - | 3 |
| 7-150171224-GA-AT | c.807_808delinsAT | p.R270W | Missense | 4/5 | - | 1 |
| 7-150171224-G-C | c.807G>C | p.G269= | Synonymous | 4/5 | - | 1 |
| 7-150171224-G-T | c.807G>T | p.G269= | Synonymous | 4/5 | - | 1 |
| 7-150171225-A-T | c.808A>T | p.R270W | Missense | 4/5 | - | 1 |
| 7-150171226-G-T | c.809G>T | p.R270M | Missense | 4/5 | - | 2 |
| 7-150171237-C-T | c.820C>T | p.Q274* | Nonsense | 4/5 | - | 1 |
| 7-150171242-C-A | c.825C>A | p.T275= | Synonymous | 4/5 | - | 1 |
| 7-150171242-C-G | c.825C>G | p.T275= | Synonymous | 4/5 | - | 1 |
| 7-150171242-C-T | c.825C>T | p.T275= | Synonymous | 4/5 | - | 1 |
| 7-150171243-G-A | c.826G>A | p.G276R | Missense | 4/5 | - | 3 |
| 7-150171244-G-A | c.827G>A | p.G276E | Missense | 4/5 | - | 6 |
| 7-150171254-G-A | c.837G>A | p.E279= | Synonymous | 4/5 | - | 1 |
| 7-150171270-AG-TT | c.853_854delinsTT | p.S285F | Missense | 4/5 | - | 1 |
| 7-150171282-G-C | c.865G>C | p.E289Q | Missense | 4/5 | - | 1 |
| 7-150171282-G-GA | c.866dup | p.S290Efs*13 | Frameshift | 4/5 | - | 1 |
| 7-150171286-G-A | c.869G>A | p.S290N | Missense | 4/5 | - | 1 |
| 7-150171288-A-T | c.871A>T | p.R291* | Nonsense | 4/5 | - | 1 |
| 7-150171289-G-A | c.872G>A | p.R291K | Missense | 4/5 | - | 4 |
| 7-150171294-T-A | c.877T>A | p.W293R | Missense | 4/5 | - | 2 |
| 7-150171294-T-C | c.877T>C | p.W293R | Missense | 4/5 | - | 5 |
| 7-150171296-G-A | c.879G>A | p.W293* | Nonsense | 4/5 | - | 2 |
| 7-150171296-G-T | c.879G>T | p.W293C | Missense | 4/5 | - | 1 |
| 7-150171298-G-A | c.881G>A | p.R294K | Missense | 4/5 | - | 5 |
| 7-150171298-G-T | c.881G>T | p.R294I | Missense | 4/5 | - | 2 |
| 7-150171303-A-C | c.886A>C | p.K296Q | Missense | 4/5 | - | 2 |
| 7-150171306-A-T | c.889A>T | p.K297* | Nonsense | 4/5 | - | 1 |
| 7-150171308-A-G | c.891A>G | p.K297= | Synonymous | 4/5 | - | 1 |
| 7-150171309-GTT-ATG | c.892_894delinsATG | p.V298M | Missense | 4/5 | - | 1 |
| 7-150171313-C-T | c.896C>T | p.S299L | Missense | 4/5 | - | 4 |
| 7-150171314-G-A | c.897G>A | p.S299= | Synonymous | 4/5 | - | 4 |
| 7-150171314-G-C | c.897G>C | p.S299= | Synonymous | 4/5 | - | 2 |
| 7-150171314-G-T | c.897G>T | p.S299= | Synonymous | 4/5 | - | 2 |
| 7-150171317-C-A | c.900C>A | p.I300= | Synonymous | 4/5 | - | 1 |
| 7-150171317-C-T | c.900C>T | p.I300= | Synonymous | 4/5 | - | 1 |
| 7-150171319-T-C | c.902T>C | p.I301T | Missense | 4/5 | - | 2 |
| 7-150171324-G-T | c.907G>T | p.A303S | Missense | 4/5 | - | 3 |
| 7-150171327-CC-TT | c.910_911delinsTT | p.P304L | Missense | 4/5 | - | 1 |
| 7-150171328-C-T | c.911C>T | p.P304L | Missense | 4/5 | - | 3 |
| 7-150171329-G-A | c.912G>A | p.P304= | Synonymous | 4/5 | - | 6 |
| 7-150171329-G-C | c.912G>C | p.P304= | Synonymous | 4/5 | - | 3 |
| 7-150171329-G-T | c.912G>T | p.P304= | Synonymous | 4/5 | - | 3 |
| 7-150171330-G-T | c.913G>T | p.D305Y | Missense | 4/5 | - | 1 |
| 7-150171333-A-G | c.916A>G | p.I306V | Missense | 4/5 | - | 1 |
| 7-150171337-C-A | c.920C>A | p.S307* | Nonsense | 4/5 | - | 3 |
| 7-150171337-C-G | c.920C>G | p.S307* | Nonsense | 4/5 | - | 2 |
| 7-150171337-C-T | c.920C>T | p.S307L | Missense | 4/5 | - | 8 |
| 7-150171340-C-G | c.923C>G | p.S308C | Missense | 4/5 | - | 4 |
| 7-150171347-G-C | c.930G>C | p.K310N | Missense | 4/5 | - | 1 |
| 7-150171347-G-T | c.930G>T | p.K310N | Missense | 4/5 | - | 1 |
| 7-150171348-A-G | c.931A>G | p.N311D | Missense | 4/5 | - | 3 |
| 7-150171351-A-G | c.934A>G | p.I312V | Missense | 4/5 | - | 1 |
| 7-150171354-G-T | c.937G>T | p.D313Y | Missense | 4/5 | - | 1 |
| 7-150171354-GACTCAGAAGTT-G | c.939_949del | p.D313Efs*22 | Frameshift | 4/5 | - | 1 |
| 7-150171357-T-C | c.940T>C | p.S314P | Missense | 4/5 | - | 1 |
| 7-150171358-C-A | c.941C>A | p.S314* | Nonsense | 4/5 | - | 3 |
| 7-150171358-C-G | c.941C>G | p.S314* | Nonsense | 4/5 | - | 3 |
| 7-150171370-A-C | c.953A>C | p.K318T | Missense | 4/5 | - | 1 |
| 7-150171382-CA-TG | c.965_966inv | p.T322M | Missense | 4/5 | - | 1 |
| 7-150171384-G-A | c.967G>A | p.G323S | Missense | 4/5 | - | 2 |
| 7-150171385-G-A | c.968G>A | p.G323D | Missense | 4/5 | - | 1 |
| 7-150171385-G-C | c.968G>C | p.G323A | Missense | 4/5 | - | 1 |
| 7-150171387-C-A | c.970C>A | p.P324T | Missense | 4/5 | - | 1 |
| 7-150171385-GC-G | c.973del | p.H325Mfs*6 | Frameshift | 4/5 | - | 1 |
| 7-150171394-C-T | c.977C>T | p.A326V | Missense | 4/5 | - | 3 |
| 7-150171395-C-A | c.978C>A | p.A326= | Synonymous | 4/5 | - | 1 |
| 7-150171395-C-G | c.978C>G | p.A326= | Synonymous | 4/5 | - | 1 |
| 7-150171395-C-T | c.978C>T | p.A326= | Synonymous | 4/5 | - | 1 |
| 7-150171398-C-T | c.981C>T | p.F327= | Synonymous | 4/5 | - | 1 |
| 7-150171403-T-A | c.986T>A | p.L329Q | Missense | 4/5 | - | 1 |
| 7-150171402-C-T | c.985C>T | p.L329= | Synonymous | 4/5 | - | 1 |
| 7-150171404-G-A | c.987G>A | p.L329= | Synonymous | 4/5 | - | 2 |
| 7-150171404-G-C | c.987G>C | p.L329= | Synonymous | 4/5 | - | 1 |
| 7-150171404-G-T | c.987G>T | p.L329= | Synonymous | 4/5 | - | 2 |
| 7-150171406-T-A | c.989T>A | p.V330E | Missense | 4/5 | - | 1 |
| 7-150171406-T-C | c.989T>C | p.V330A | Missense | 4/5 | - | 1 |
| 7-150171411-C-T | c.994C>T | p.P332S | Missense | 4/5 | - | 5 |
| 7-150171412-C-T | c.995C>T | p.P332L | Missense | 4/5 | - | 4 |
| 7-150171416-G-A | c.999G>A | p.L333= | Synonymous | 4/5 | - | 3 |
| 7-150171416-G-T | c.999G>T | p.L333= | Synonymous | 4/5 | - | 1 |
| 7-150171420-T-G | c.1003T>G | p.F335V | Missense | 4/5 | - | 1 |
| 7-150171422-T-C | c.1005T>C | p.F335= | Synonymous | 4/5 | - | 1 |
| 7-150171426-A-T | c.1009A>T | p.T337S | Missense | 4/5 | - | 2 |
| 7-150171427-C-G | c.1010C>G | p.T337S | Missense | 4/5 | - | 3 |
| 7-150171431-G-C | c.1014G>C | p.K338N | Missense | 4/5 | - | 1 |
| 7-150171431-G-T | c.1014G>T | p.K338N | Missense | 4/5 | - | 2 |
| 7-150171435-G-A | c.1018G>A | p.D340N | Missense | 4/5 | - | 4 |
| 7-150171438-G-T | c.1021G>T | p.E341* | Nonsense | 4/5 | - | 1 |
| 7-150171439-A-G | c.1022A>G | p.E341G | Missense | 4/5 | - | 1 |
| 7-150171441-G-A | c.1024G>A | p.A342T | Missense | 4/5 | - | 1 |
| 7-150171442-C-T | c.1025C>T | p.A342V | Missense | 4/5 | - | 1 |
| 7-150171444-G-A | c.1027G>A | p.V343M | Missense | 4/5 | - | 1 |
| 7-150171447-C-G | c.1030C>G | p.L344V | Missense | 4/5 | - | 2 |
| 7-150171449-G-A | c.1032G>A | p.L344= | Synonymous | 4/5 | - | 1 |
| 7-150171455-C-T | c.1038C>T | p.T346= | Synonymous | 4/5 | - | 1 |
| 7-150171458-C-G | c.1041C>G | p.I347M | Missense | 4/5 | - | 1 |
| 7-150171459-C-T | c.1042C>T | p.Q348* | Nonsense | 4/5 | - | 3 |
| 7-150171464-C-T | c.1047C>T | p.N349= | Synonymous | 4/5 | - | 1 |
| 7-150171472-G-A | c.1055G>A | p.G352E | Missense | 4/5 | - | 3 |
| 7-150171474-G-A | c.1057G>A | p.E353K | Missense | 4/5 | - | 1 |
| 7-150171478-A-C | c.1061A>C | p.K354T | Missense | 4/5 | - | 1 |
| 7-150171480-T-C | c.1063T>C | p.F355L | Missense | 4/5 | - | 2 |
| 7-150171482-C-A | c.1065C>A | p.F355L | Missense | 4/5 | - | 2 |
| 7-150171482-C-G | c.1065C>G | p.F355L | Missense | 4/5 | - | 2 |
| 7-150171483-T-A | c.1066T>A | p.F356I | Missense | 4/5 | - | 4 |
| 7-150171486-G-C | c.1069G>C | p.E357Q | Missense | 4/5 | - | 2 |
| 7-150171495-A-C | c.1078A>C | p.I360L | Missense | 4/5 | - | 1 |
| 7-150171495-A-G | c.1078A>G | p.I360V | Missense | 4/5 | - | 4 |
| 7-150171495-A-T | c.1078A>T | p.I360F | Missense | 4/5 | - | 1 |
| 7-150171497-C-T | c.1080C>T | p.I360= | Synonymous | 4/5 | - | 3 |
| 7-150171498-A-C | c.1081A>C | p.I361L | Missense | 4/5 | - | 1 |
| 7-150171502-T-G | c.1085T>G | p.L362R | Missense | 4/5 | - | 4 |
| 7-150171508-C-A | c.1091C>A | p.T364N | Missense | 4/5 | - | 5 |
| 7-150171509-C-T | c.1092C>T | p.T364= | Synonymous | 4/5 | - | 1 |
| 7-150171510-A-C | c.1093A>C | p.R365= | Synonymous | 4/5 | - | 3 |
| 7-150171512-G-A | c.1095G>A | p.R365= | Synonymous | 4/5 | - | 5 |
| 7-150171512-G-C | c.1095G>C | p.R365S | Missense | 4/5 | - | 3 |
| 7-150171512-G-T | c.1095G>T | p.R365S | Missense | 4/5 | - | 3 |
| 7-150171516-G-A | c.1099G>A | p.E367K | Missense | 4/5 | - | 7 |
| 7-150171522-T-C | c.1105T>C | p.L369= | Synonymous | 4/5 | - | 1 |
| 7-150171524-A-G | c.1107A>G | p.L369= | Synonymous | 4/5 | - | 1 |
| 7-150171526-G-A | c.1109G>A | p.G370E | Missense | 4/5 | - | 5 |
| 7-150171527-G-A | c.1110G>A | p.G370= | Synonymous | 4/5 | - | 1 |
| 7-150171528-G-A | c.1111G>A | p.D371N | Missense | 4/5 | - | 6 |
| 7-150171533-G-A | c.1116G>A | p.Q372= | Synonymous | 4/5 | - | 2 |
| 7-150171534-G-A | c.1117G>A | p.D373N | Missense | 4/5 | - | 6 |
| 7-150171534-G-T | c.1117G>T | p.D373Y | Missense | 4/5 | - | 1 |
| 7-150171543-A-G | c.1126A>G | p.T376A | Missense | 4/5 | - | 1 |
| 7-150171544-C-T | c.1127C>T | p.T376M | Missense | 4/5 | - | 1 |
| 7-150171545-G-A | c.1128G>A | p.T376= | Synonymous | 4/5 | - | 5 |
| 7-150171545-G-C | c.1128G>C | p.T376= | Synonymous | 4/5 | - | 2 |
| 7-150171545-G-T | c.1128G>T | p.T376= | Synonymous | 4/5 | - | 2 |
| 7-150171552-A-T | c.1135A>T | p.R379* | Nonsense | 4/5 | - | 1 |
| 7-150171553-G-A | c.1136G>A | p.R379K | Missense | 4/5 | - | 2 |
| 7-150171552-A-C | c.1135A>C | p.R379= | Synonymous | 4/5 | - | 1 |
| 7-150171554-A-G | c.1137A>G | p.R379= | Synonymous | 4/5 | - | 1 |
| 7-150171558-A-C | c.1141A>C | p.S381R | Missense | 4/5 | - | 1 |
| 7-150171560-C-A | c.1143C>A | p.S381R | Missense | 4/5 | - | 1 |
| 7-150171560-C-G | c.1143C>G | p.S381R | Missense | 4/5 | - | 1 |
| 7-150171570-C-G | c.1153C>G | p.L385V | Missense | 4/5 | - | 4 |
| 7-150171574-A-T | c.1157A>T | p.Y386F | Missense | 4/5 | - | 2 |
| 7-150171581-C-T | c.1164C>T | p.L388= | Synonymous | 4/5 | - | 1 |
| 7-150171584-C-G | c.1167C>G | p.I389M | Missense | 4/5 | - | 1 |
| 7-150171584-C-T | c.1167C>T | p.I389= | Synonymous | 4/5 | - | 1 |
| 7-150171587-G-C | c.1170G>C | p.Q390H | Missense | 4/5 | - | 1 |
| 7-150171587-G-T | c.1170G>T | p.Q390H | Missense | 4/5 | - | 1 |
| 7-150171588-A-G | c.1171A>G | p.K391E | Missense | 4/5 | - | 1 |
| 7-150171593-T-C | c.1176T>C | p.C392= | Synonymous | 4/5 | - | 1 |
| 7-150171601-G-A | c.1184G>A | p.R395K | Missense | 4/5 | - | 2 |
| 7-150171599-CAGATATAGTGCCTTCAACTACCGGGCAACAGGAGA-C | c.1186_1220del | p.Y396Rfs*13 | Frameshift | 4/5 | - | 3 |
| 7-150171599-CAGATATAGTGCCTTCAACTACCGGGCAACAGG-C | c.1186_1217del | p.Y396Rfs*14 | Frameshift | 4/5 | - | 1 |
| 7-150171607-G-C | c.1190G>C | p.S397T | Missense | 4/5 | - | 2 |
| 7-150171609-G-A | c.1192G>A | p.A398T | Missense | 4/5 | - | 2 |
| 7-150171609-G-C | c.1192G>C | p.A398P | Missense | 4/5 | - | 4 |
| 7-150171621-C-T | c.1204C>T | p.R402W | Missense | 4/5 | - | 3 |
| 7-150171622-G-T | c.1205G>T | p.R402L | Missense | 4/5 | - | 1 |
| 7-150171630-G-C | c.1213G>C | p.G405R | Missense | 4/5 | - | 1 |
| 7-150171631-G-A | c.1214G>A | p.G405E | Missense | 4/5 | - | 3 |
| 7-150171641-G-A | c.1224G>A | p.E408= | Synonymous | 4/5 | - | 2 |
| 7-150171642-C-A | c.1225C>A | p.Q409K | Missense | 4/5 | - | 1 |
| 7-150171646-G-T | c.1229G>T | p.R410M | Missense | 4/5 | - | 1 |
| 7-150171650-G-A | c.1233G>A | p.Q411= | Synonymous | 4/5 | - | 1 |
| 7-150171652-C-A | c.1235C>A | p.A412E | Missense | 4/5 | - | 1 |
| 7-150171653-G-A | c.1236G>A | p.A412= | Synonymous | 4/5 | - | 4 |
| 7-150171653-G-C | c.1236G>C | p.A412= | Synonymous | 4/5 | - | 1 |
| 7-150171653-G-T | c.1236G>T | p.A412= | Synonymous | 4/5 | - | 1 |
| 7-150171656-C-T | c.1239C>T | p.D413= | Synonymous | 4/5 | - | 3 |
| 7-150171657-G-A | c.1240G>A | p.E414K | Missense | 4/5 | - | 4 |
| 7-150171657-G-T | c.1240G>T | p.E414* | Nonsense | 4/5 | - | 1 |
| 7-150171658-A-T | c.1241A>T | p.E414V | Missense | 4/5 | - | 1 |
| 7-150171662-C-T | c.1245C>T | p.L415= | Synonymous | 4/5 | - | 1 |
| 7-150171666-G-A | c.1249G>A | p.E417K | Missense | 4/5 | - | 7 |
| 7-150171677-G-C | c.1260G>C | p.E420D | Missense | 4/5 | - | 1 |
| 7-150171677-G-T | c.1260G>T | p.E420D | Missense | 4/5 | - | 1 |
| 7-150171682-T-C | c.1265T>C | p.M422T | Missense | 4/5 | - | 1 |
| 7-150171685-T-A | c.1268T>A | p.V423E | Missense | 4/5 | - | 1 |
| 7-150171694-A-G | c.1277A>G | p.N426S | Missense | 4/5 | - | 1 |
| 7-150171696-G-A | c.1279G>A | p.G427R | Missense | 4/5 | - | 1 |
| 7-150171697-G-A | c.1280G>A | p.G427E | Missense | 4/5 | - | 1 |
| 7-150171698-G-A | c.1281G>A | p.G427= | Synonymous | 4/5 | - | 4 |
| 7-150171705-C-A | c.1288C>A | p.H430N | Missense | 4/5 | - | 1 |
| 7-150171710-T-C | c.1293T>C | p.C431= | Synonymous | 4/5 | - | 15 |
| 7-150171718-G-A | c.1301G>A | p.R434K | Missense | 4/5 | - | 1 |
| 7-150171726-G-T | c.1309G>T | p.E437* | Nonsense | 4/5 | - | 1 |
| 7-150171727-G-A | c.1309+1G>A | - | IntronicSNV | - | 4/4 | 3 |
| 7-150171810-T-A | c.1309+84T>A | - | IntronicSNV | - | 4/4 | 1 |
| 7-150171901-C-T | c.1309+175C>T | - | IntronicSNV | - | 4/4 | 1 |
| 7-150174079-G-C | c.1310-101G>C | - | IntronicSNV | - | 4/4 | 1 |
| 7-150174079-G-T | c.1310-101G>T | - | IntronicSNV | - | 4/4 | 1 |
| 7-150174183-C-A | c.1313C>A | p.T438N | Missense | 5/5 | - | 3 |
| 7-150174192-T-C | c.1322T>C | p.I441T | Missense | 5/5 | - | 1 |
| 7-150174193-T-A | c.1323T>A | p.I441= | Synonymous | 5/5 | - | 1 |
| 7-150174196-C-A | c.1326C>A | p.V442= | Synonymous | 5/5 | - | 1 |
| 7-150174196-C-G | c.1326C>G | p.V442= | Synonymous | 5/5 | - | 1 |
| 7-150174196-C-T | c.1326C>T | p.V442= | Synonymous | 5/5 | - | 1 |
| 7-150174197-C-T | c.1327C>T | p.L443F | Missense | 5/5 | - | 1 |
| 7-150174197-CT-AG | c.1327_1328inv | p.L443S | Missense | 5/5 | - | 1 |
| 7-150174198-T-C | c.1328T>C | p.L443P | Missense | 5/5 | - | 2 |
| 7-150174203-G-A | c.1333G>A | p.G445R | Missense | 5/5 | - | 1 |
| 7-150174205-G-A | c.1335G>A | p.G445= | Synonymous | 5/5 | - | 2 |
| 7-150174210-G-A | c.1340G>A | p.S447N | Missense | 5/5 | - | 4 |
| 7-150174211-C-T | c.1341C>T | p.S447= | Synonymous | 5/5 | - | 4 |
| 7-150174212-G-A | c.1342G>A | p.G448R | Missense | 5/5 | - | 4 |
| 7-150174212-G-C | c.1342G>C | p.G448R | Missense | 5/5 | - | 3 |
| 7-150174214-G-C | c.1344G>C | p.G448= | Synonymous | 5/5 | - | 1 |
| 7-150174219-G-A | c.1349G>A | p.G450E | Missense | 5/5 | - | 5 |
| 7-150174220-G-A | c.1350G>A | p.G450= | Synonymous | 5/5 | - | 3 |
| 7-150174228-C-T | c.1358C>T | p.A453V | Missense | 5/5 | - | 7 |
| 7-150174229-G-A | c.1359G>A | p.A453= | Synonymous | 5/5 | - | 3 |
| 7-150174229-G-C | c.1359G>C | p.A453= | Synonymous | 5/5 | - | 1 |
| 7-150174229-G-T | c.1359G>T | p.A453= | Synonymous | 5/5 | - | 1 |
| 7-150174231-C-T | c.1361C>T | p.T454I | Missense | 5/5 | - | 2 |
| 7-150174232-C-T | c.1362C>T | p.T454= | Synonymous | 5/5 | - | 2 |
| 7-150174233-G-A | c.1363G>A | p.G455R | Missense | 5/5 | - | 2 |
| 7-150174233-G-C | c.1363G>C | p.G455R | Missense | 5/5 | - | 1 |
| 7-150174234-G-T | c.1364G>T | p.G455V | Missense | 5/5 | - | 1 |
| 7-150174235-G-A | c.1365G>A | p.G455= | Synonymous | 5/5 | - | 3 |
| 7-150174235-G-T | c.1365G>T | p.G455= | Synonymous | 5/5 | - | 3 |
| 7-150174238-C-A | c.1368C>A | p.N456K | Missense | 5/5 | - | 1 |
| 7-150174238-C-G | c.1368C>G | p.N456K | Missense | 5/5 | - | 1 |
| 7-150174244-C-A | c.1374C>A | p.I458= | Synonymous | 5/5 | - | 1 |
| 7-150174244-C-T | c.1374C>T | p.I458= | Synonymous | 5/5 | - | 5 |
| 7-150174245-C-A | c.1375C>A | p.L459M | Missense | 5/5 | - | 1 |
| 7-150174245-C-T | c.1375C>T | p.L459= | Synonymous | 5/5 | - | 1 |
| 7-150174245-CTG-TTT | c.1375_1377delinsTTT | p.L459F | Missense | 5/5 | - | 1 |
| 7-150174248-G-T | c.1378G>T | p.G460W | Missense | 5/5 | - | 3 |
| 7-150174249-G-A | c.1379G>A | p.G460E | Missense | 5/5 | - | 1 |
| 7-150174251-AG-TT | c.1381_1382delinsTT | p.S461F | Missense | 5/5 | - | 1 |
| 7-150174255-T-C | c.1385T>C | p.L462P | Missense | 5/5 | - | 2 |
| 7-150174257-G-A | c.1387G>A | p.V463I | Missense | 5/5 | - | 5 |
| 7-150174259-C-T | c.1389C>T | p.V463= | Synonymous | 5/5 | - | 3 |
| 7-150174260-T-C | c.1390T>C | p.F464L | Missense | 5/5 | - | 1 |
| 7-150174262-C-A | c.1392C>A | p.F464L | Missense | 5/5 | - | 2 |
| 7-150174262-C-G | c.1392C>G | p.F464L | Missense | 5/5 | - | 1 |
| 7-150174262-C-T | c.1392C>T | p.F464= | Synonymous | 5/5 | - | 2 |
| 7-150174263-A-G | c.1393A>G | p.T465A | Missense | 5/5 | - | 1 |
| 7-150174269-C-T | c.1399C>T | p.R467W | Missense | 5/5 | - | 2 |
| 7-150174270-G-T | c.1400G>T | p.R467L | Missense | 5/5 | - | 1 |
| 7-150174272-C-A | c.1402C>A | p.L468I | Missense | 5/5 | - | 2 |
| 7-150174272-C-T | c.1402C>T | p.L468F | Missense | 5/5 | - | 2 |
| 7-150174274-C-A | c.1404C>A | p.L468= | Synonymous | 5/5 | - | 1 |
| 7-150174275-C-T | c.1405C>T | p.R469W | Missense | 5/5 | - | 4 |
| 7-150174277-G-T | c.1407G>T | p.R469= | Synonymous | 5/5 | - | 1 |
| 7-150174278-G-A | c.1408G>A | p.A470T | Missense | 5/5 | - | 2 |
| 7-150174278-G-T | c.1408G>T | p.A470S | Missense | 5/5 | - | 1 |
| 7-150174281-C-A | c.1411C>A | p.Q471K | Missense | 5/5 | - | 1 |
| 7-150174285-C-T | c.1415C>T | p.P472L | Missense | 5/5 | - | 3 |
| 7-150174292-C-A | c.1422C>A | p.T474= | Synonymous | 5/5 | - | 1 |
| 7-150174292-C-G | c.1422C>G | p.T474= | Synonymous | 5/5 | - | 1 |
| 7-150174292-C-T | c.1422C>T | p.T474= | Synonymous | 5/5 | - | 1 |
| 7-150174298-C-T | c.1428C>T | p.T476= | Synonymous | 5/5 | - | 2 |
| 7-150174300-G-A | c.1430G>A | p.S477N | Missense | 5/5 | - | 4 |
| 7-150174301-C-T | c.1431C>T | p.S477= | Synonymous | 5/5 | - | 1 |
| 7-150174302-C-T | c.1432C>T | p.Q478* | Nonsense | 5/5 | - | 4 |
| 7-150174304-G-T | c.1434G>T | p.Q478H | Missense | 5/5 | - | 1 |
| 7-150174306-G-T | c.1436G>T | p.S479I | Missense | 5/5 | - | 2 |
| 7-150174307-T-A | c.1437T>A | p.S479R | Missense | 5/5 | - | 1 |
| 7-150174314-A-G | c.1444A>G | p.R482G | Missense | 5/5 | - | 2 |
| 7-150174315-G-A | c.1445G>A | p.R482K | Missense | 5/5 | - | 2 |
| 7-150174314-AGGACATGGGAC-A | c.1450_1460del | p.W484Gfs*35 | Frameshift | 5/5 | - | 1 |
| 7-150174321-G-T | c.1451G>T | p.W484L | Missense | 5/5 | - | 1 |
| 7-150174326-G-A | c.1456G>A | p.G486R | Missense | 5/5 | - | 8 |
| 7-150174326-G-C | c.1456G>C | p.G486R | Missense | 5/5 | - | 3 |
| 7-150174327-G-A | c.1457G>A | p.G486E | Missense | 5/5 | - | 4 |
| 7-150174327-G-T | c.1457G>T | p.G486V | Missense | 5/5 | - | 1 |
| 7-150174330-A-T | c.1460A>T | p.Q487L | Missense | 5/5 | - | 1 |
| 7-150174331-G-A | c.1461G>A | p.Q487= | Synonymous | 5/5 | - | 1 |
| 7-150174335-G-A | c.1465G>A | p.V489M | Missense | 5/5 | - | 1 |
| 7-150174336-T-G | c.1466T>G | p.V489G | Missense | 5/5 | - | 1 |
| 7-150174339-T-G | c.1469T>G | p.V490G | Missense | 5/5 | - | 1 |
| 7-150174341-G-A | c.1471G>A | p.V491I | Missense | 5/5 | - | 3 |
| 7-150174353-C-G | c.1483C>G | p.P495A | Missense | 5/5 | - | 1 |
| 7-150174352-TC-T | c.1484del | p.P495Lfs*16 | Frameshift | 5/5 | - | 1 |
| 7-150174354-C-T | c.1484C>T | p.P495L | Missense | 5/5 | - | 3 |
| 7-150174357-C-T | c.1487C>T | p.S496F | Missense | 5/5 | - | 6 |
| 7-150174358-C-A | c.1488C>A | p.S496= | Synonymous | 5/5 | - | 1 |
| 7-150174361-C-T | c.1491C>T | p.F497= | Synonymous | 5/5 | - | 1 |
| 7-150174364-C-A | c.1494C>A | p.N498K | Missense | 5/5 | - | 1 |
| 7-150174364-C-G | c.1494C>G | p.N498K | Missense | 5/5 | - | 1 |
| 7-150174367-G-A | c.1497G>A | p.Q499= | Synonymous | 5/5 | - | 2 |
| 7-150174368-A-C | c.1498A>C | p.M500L | Missense | 5/5 | - | 1 |
| 7-150174368-A-T | c.1498A>T | p.M500L | Missense | 5/5 | - | 1 |
| 7-150174379-C-A | c.1509C>A | p.V503= | Synonymous | 5/5 | - | 1 |
| 7-150174379-C-G | c.1509C>G | p.V503= | Synonymous | 5/5 | - | 1 |
| 7-150174379-C-T | c.1509C>T | p.V503= | Synonymous | 5/5 | - | 5 |
| 7-150174380-G-A | c.1510G>A | p.E504K | Missense | 5/5 | - | 4 |
| 7-150174381-A-G | c.1511A>G | p.E504G | Missense | 5/5 | - | 2 |
| 7-150174382-A-C | c.1512A>C | p.E504D | Missense | 5/5 | - | 1 |
| 7-150174385-G-A | c.1515G>A | p.K505= | Synonymous | 5/5 | - | 2 |
| 7-150174386-G-A | c.1516G>A | p.D506N | Missense | 5/5 | - | 2 |
| 7-150174389-CC-AA | c.1519_1520delinsAA | p.P507K | Missense | 5/5 | - | 1 |
| 7-150174390-C-A | c.1520C>A | p.P507Q | Missense | 5/5 | - | 1 |
| 7-150174390-C-T | c.1520C>T | p.P507L | Missense | 5/5 | - | 1 |
| 7-150174391-A-C | c.1521A>C | p.P507= | Synonymous | 5/5 | - | 1 |
| 7-150174393-C-T | c.1523C>T | p.S508F | Missense | 5/5 | - | 3 |
| 7-150174395-C-A | c.1525C>A | p.R509= | Synonymous | 5/5 | - | 4 |
| 7-150174397-G-A | c.1527G>A | p.R509= | Synonymous | 5/5 | - | 3 |
| 7-150174397-G-C | c.1527G>C | p.R509= | Synonymous | 5/5 | - | 3 |
| 7-150174397-G-T | c.1527G>T | p.R509= | Synonymous | 5/5 | - | 4 |
| 7-150174401-G-A | c.1531G>A | p.E511K | Missense | 5/5 | - | 1 |
| 7-150174406-G-GA | c.1536_1537insA | p.E513Rfs*10 | Frameshift | 5/5 | - | 1 |
| 7-150174410-G-C | c.1540G>C | p.V514L | Missense | 5/5 | - | 1 |
| 7-150174411-T-G | c.1541T>G | p.V514G | Missense | 5/5 | - | 1 |
| 7-150174413-A-G | c.1543A>G | p.K515E | Missense | 5/5 | - | 3 |
| 7-150174415-G-C | c.1545G>C | p.K515N | Missense | 5/5 | - | 1 |
| 7-150174415-G-T | c.1545G>T | p.K515N | Missense | 5/5 | - | 1 |
| 7-150174416-C-G | c.1546C>G | p.R516G | Missense | 5/5 | - | 1 |
| 7-150174416-CGC-TGG | c.1546_1548delinsTGG | p.R516W | Missense | 5/5 | - | 1 |
| 7-150174416-C-T | c.1546C>T | p.R516C | Missense | 5/5 | - | 1 |
| 7-150174417-G-A | c.1547G>A | p.R516H | Missense | 5/5 | - | 4 |
| 7-150174417-G-T | c.1547G>T | p.R516L | Missense | 5/5 | - | 3 |
| 7-150174418-C-CAT | c.1548_1549insAT | p.C517Ifs*55 | Frameshift | 5/5 | - | 1 |
| 7-150174422-T-C | c.1552T>C | p.L518= | Synonymous | 5/5 | - | 1 |
| 7-150174429-G-A | c.1559G>A | p.C520Y | Missense | 5/5 | - | 2 |
| 7-150174431-T-C | c.1561T>C | p.C521R | Missense | 5/5 | - | 1 |
| 7-150174433-GT-G | c.1563del | p.C521Wfs*50 | Frameshift | 5/5 | - | 1 |
| 7-150174434-G-A | c.1564G>A | p.E522K | Missense | 5/5 | - | 2 |
| 7-150174434-GA-G | c.1569del | p.D525Tfs*46 | Frameshift | 5/5 | - | 1 |
| 7-150174439-A-G | c.1569A>G | p.K523= | Synonymous | 5/5 | - | 1 |
| 7-150174442-G-A | c.1572G>A | p.G524= | Synonymous | 5/5 | - | 1 |
| 7-150174442-G-C | c.1572G>C | p.G524= | Synonymous | 5/5 | - | 1 |
| 7-150174442-G-GT | c.1572_1573insT | p.D525* | Nonsense | 5/5 | - | 1 |
| 7-150174442-G-T | c.1572G>T | p.G524= | Synonymous | 5/5 | - | 1 |
| 7-150174448-A-AT | c.1584dup | p.V529Cfs*11 | Frameshift | 5/5 | - | 1 |
| 7-150174454-T-C | c.1584T>C | p.F528= | Synonymous | 5/5 | - | 2 |
| 7-150174457-C-T | c.1587C>T | p.V529= | Synonymous | 5/5 | - | 1 |
| 7-150174463-G-A | c.1593G>A | p.V531= | Synonymous | 5/5 | - | 1 |
| 7-150174465-T-C | c.1595T>C | p.F532S | Missense | 5/5 | - | 1 |
| 7-150174466-C-T | c.1596C>T | p.F532= | Synonymous | 5/5 | - | 4 |
| 7-150174467-C-T | c.1597C>T | p.Q533* | Nonsense | 5/5 | - | 1 |
| 7-150174473-G-C | c.1603G>C | p.G535R | Missense | 5/5 | - | 1 |
| 7-150174475-A-G | c.1605A>G | p.G535= | Synonymous | 5/5 | - | 1 |
| 7-150174477-G-A | c.1607G>A | p.R536Q | Missense | 5/5 | - | 5 |
| 7-150174479-T-C | c.1609T>C | p.F537L | Missense | 5/5 | - | 1 |
| 7-150174483-C-T | c.1613C>T | p.T538I | Missense | 5/5 | - | 1 |
| 7-150174484-T-G | c.1614T>G | p.T538= | Synonymous | 5/5 | - | 1 |
| 7-150174488-G-C | c.1618G>C | p.E540Q | Missense | 5/5 | - | 1 |
| 7-150174490-G-A | c.1620G>A | p.E540= | Synonymous | 5/5 | - | 1 |
| 7-150174490-G-T | c.1620G>T | p.E540D | Missense | 5/5 | - | 1 |
| 7-150174491-G-A | c.1621G>A | p.D541N | Missense | 5/5 | - | 2 |
| 7-150174492-A-G | c.1622A>G | p.D541G | Missense | 5/5 | - | 1 |
| 7-150174493-C-A | c.1623C>A | p.D541E | Missense | 5/5 | - | 1 |
| 7-150174500-G-A | c.1630G>A | p.A544T | Missense | 5/5 | - | 1 |
| 7-150174500-G-C | c.1630G>C | p.A544P | Missense | 5/5 | - | 1 |
| 7-150174500-G-T | c.1630G>T | p.A544S | Missense | 5/5 | - | 3 |
| 7-150174507-C-T | c.1637C>T | p.A546V | Missense | 5/5 | - | 2 |
| 7-150174508-G-A | c.1638G>A | p.A546= | Synonymous | 5/5 | - | 3 |
| 7-150174508-G-C | c.1638G>C | p.A546= | Synonymous | 5/5 | - | 1 |
| 7-150174508-G-T | c.1638G>T | p.A546= | Synonymous | 5/5 | - | 1 |
| 7-150174511-A-C | c.1641A>C | p.K547N | Missense | 5/5 | - | 1 |
| 7-150174511-A-T | c.1641A>T | p.K547N | Missense | 5/5 | - | 1 |
| 7-150174517-G-A | c.1647G>A | p.E549= | Synonymous | 5/5 | - | 2 |
| 7-150174518-G-T | c.1648G>T | p.A550S | Missense | 5/5 | - | 1 |
| 7-150174519-C-T | c.1649C>T | p.A550V | Missense | 5/5 | - | 2 |
| 7-150174525-T-C | c.1655T>C | p.F552S | Missense | 5/5 | - | 1 |
| 7-150174527-G-A | c.1657G>A | p.G553R | Missense | 5/5 | - | 5 |
| 7-150174527-G-C | c.1657G>C | p.G553R | Missense | 5/5 | - | 1 |
| 7-150174528-G-A | c.1658G>A | p.G553E | Missense | 5/5 | - | 4 |
| 7-150174528-G-T | c.1658G>T | p.G553V | Missense | 5/5 | - | 1 |
| 7-150174530-G-A | c.1660G>A | p.A554T | Missense | 5/5 | - | 1 |
| 7-150174530-G-C | c.1660G>C | p.A554P | Missense | 5/5 | - | 1 |
| 7-150174533-G-A | c.1663G>A | p.D555N | Missense | 5/5 | - | 4 |
| 7-150174534-A-G | c.1664A>G | p.D555G | Missense | 5/5 | - | 1 |
| 7-150174535-CTT-C | c.1667_1668del | p.F556Yfs*28 | Frameshift | 5/5 | - | 2 |
| 7-150174540-C-G | c.1670C>G | p.T557R | Missense | 5/5 | - | 2 |
| 7-150174540-C-T | c.1670C>T | p.T557M | Missense | 5/5 | - | 1 |
| 7-150174541-G-A | c.1671G>A | p.T557= | Synonymous | 5/5 | - | 9 |
| 7-150174541-G-C | c.1671G>C | p.T557= | Synonymous | 5/5 | - | 3 |
| 7-150174541-G-T | c.1671G>T | p.T557= | Synonymous | 5/5 | - | 4 |
| 7-150174547-C-T | c.1677C>T | p.Y559= | Synonymous | 5/5 | - | 5 |
| 7-150174548-G-A | c.1678G>A | p.A560T | Missense | 5/5 | - | 4 |
| 7-150174548-G-C | c.1678G>C | p.A560P | Missense | 5/5 | - | 1 |
| 7-150174549-C-T | c.1679C>T | p.A560V | Missense | 5/5 | - | 2 |
| 7-150174550-G-A | c.1680G>A | p.A560= | Synonymous | 5/5 | - | 8 |
| 7-150174550-G-C | c.1680G>C | p.A560= | Synonymous | 5/5 | - | 2 |
| 7-150174550-G-T | c.1680G>T | p.A560= | Synonymous | 5/5 | - | 2 |
| 7-150174554-A-G | c.1684A>G | p.M562V | Missense | 5/5 | - | 2 |
| 7-150174565-C-T | c.1695C>T | p.T565= | Synonymous | 5/5 | - | 1 |
| 7-150174566-C-A | c.1696C>A | p.R566= | Synonymous | 5/5 | - | 1 |
| 7-150174566-C-G | c.1696C>G | p.R566G | Missense | 5/5 | - | 3 |
| 7-150174568-G-A | c.1698G>A | p.R566= | Synonymous | 5/5 | - | 1 |
| 7-150174568-G-C | c.1698G>C | p.R566= | Synonymous | 5/5 | - | 1 |
| 7-150174568-G-T | c.1698G>T | p.R566= | Synonymous | 5/5 | - | 1 |
| 7-150174567-G-A | c.1697G>A | p.R566Q | Missense | 5/5 | - | 6 |
| 7-150174571-G-A | c.1701G>A | p.K567= | Synonymous | 5/5 | - | 2 |
| 7-150174572-G-A | c.1702G>A | p.E568K | Missense | 5/5 | - | 7 |
| 7-150174575-G-A | c.1705G>A | p.D569N | Missense | 5/5 | - | 4 |
| 7-150174578-C-T | c.1708C>T | p.L570= | Synonymous | 5/5 | - | 3 |
| 7-150174580-A-T | c.1710A>T | p.L570= | Synonymous | 5/5 | - | 1 |
| 7-150174589-G-A | c.1719G>A | p.G573= | Synonymous | 5/5 | - | 3 |
| 7-150174592-T-C | c.1722T>C | p.N574= | Synonymous | 5/5 | - | 1 |
| 7-150174593-T-C | c.1723T>C | p.L575= | Synonymous | 5/5 | - | 1 |
| 7-150174595-G-A | c.1725G>A | p.L575= | Synonymous | 5/5 | - | 2 |
| 7-150174594-T-G | c.1724T>G | p.L575W | Missense | 5/5 | - | 2 |
| 7-150174596-G-A | c.1726G>A | p.E576K | Missense | 5/5 | - | 1 |
| 7-150174599-G-A | c.1729G>A | p.D577N | Missense | 5/5 | - | 2 |
| 7-150174599-G-T | c.1729G>T | p.D577Y | Missense | 5/5 | - | 4 |
| 7-150174603-T-A | c.1733T>A | p.F578Y | Missense | 5/5 | - | 1 |
| 7-150174604-C-G | c.1734C>G | p.F578L | Missense | 5/5 | - | 1 |
| 7-150174604-C-T | c.1734C>T | p.F578= | Synonymous | 5/5 | - | 2 |
| 7-150174610-G-C | c.1740G>C | p.K580N | Missense | 5/5 | - | 1 |
| 7-150174610-G-T | c.1740G>T | p.K580N | Missense | 5/5 | - | 2 |
| 7-150174613-C-T | c.1743C>T | p.N581= | Synonymous | 5/5 | - | 3 |
| 7-150174615-C-T | c.1745C>T | p.S582L | Missense | 5/5 | - | 3 |
| 7-150174618-A-G | c.1748A>G | p.D583G | Missense | 5/5 | - | 2 |
| 7-150174622-C-A | c.1752C>A | p.N584K | Missense | 5/5 | - | 1 |
| 7-150174628-C-A | c.1758C>A | p.A586= | Synonymous | 5/5 | - | 1 |
| 7-150174628-C-G | c.1758C>G | p.A586= | Synonymous | 5/5 | - | 1 |
| 7-150174628-C-T | c.1758C>T | p.A586= | Synonymous | 5/5 | - | 1 |
| 7-150174629-C-T | c.1759C>T | p.L587F | Missense | 5/5 | - | 2 |
| 7-150174631-T-A | c.1761T>A | p.L587= | Synonymous | 5/5 | - | 2 |
| 7-150174631-T-C | c.1761T>C | p.L587= | Synonymous | 5/5 | - | 1 |
| 7-150174631-T-G | c.1761T>G | p.L587= | Synonymous | 5/5 | - | 1 |
| 7-150174632-C-T | c.1762C>T | p.R588W | Missense | 5/5 | - | 4 |
| 7-150174633-G-A | c.1763G>A | p.R588Q | Missense | 5/5 | - | 3 |
| 7-150174633-G-C | c.1763G>C | p.R588P | Missense | 5/5 | - | 1 |
| 7-150174635-C-A | c.1765C>A | p.R589S | Missense | 5/5 | - | 1 |
| 7-150174635-C-T | c.1765C>T | p.R589C | Missense | 5/5 | - | 6 |
| 7-150174636-G-A | c.1766G>A | p.R589H | Missense | 5/5 | - | 6 |
| 7-150174641-T-C | c.1771T>C | p.F591L | Missense | 5/5 | - | 1 |
| 7-150174643-T-A | c.1773T>A | p.F591L | Missense | 5/5 | - | 1 |
| 7-150174643-T-G | c.1773T>G | p.F591L | Missense | 5/5 | - | 1 |
| 7-150174638-AT-A | c.1773del | p.F591Lfs*24 | Frameshift | 5/5 | - | 2 |
| 7-150174647-A-G | c.1777A>G | p.K593E | Missense | 5/5 | - | 1 |
| 7-150174650-T-C | c.1780T>C | p.C594R | Missense | 5/5 | - | 3 |
| 7-150174654-G-T | c.1784G>T | p.G595V | Missense | 5/5 | - | 2 |
| 7-150174656-C-T | c.1786C>T | p.R596W | Missense | 5/5 | - | 2 |
| 7-150174657-G-A | c.1787G>A | p.R596Q | Missense | 5/5 | - | 4 |
| 7-150174657-G-T | c.1787G>T | p.R596L | Missense | 5/5 | - | 4 |
| 7-150174657-GGC-G | c.1789_1790del | p.R597Sfs*5 | Frameshift | 5/5 | - | 1 |
| 7-150174659-C-T | c.1789C>T | p.R597* | Nonsense | 5/5 | - | 2 |
| 7-150174662-G-A | c.1792G>A | p.V598I | Missense | 5/5 | - | 1 |
| 7-150174670-T-A | c.1800T>A | p.A600= | Synonymous | 5/5 | - | 1 |
| 7-150174670-T-C | c.1800T>C | p.A600= | Synonymous | 5/5 | - | 1 |
| 7-150174670-T-G | c.1800T>G | p.A600= | Synonymous | 5/5 | - | 1 |
| 7-150174677-A-C | c.1807A>C | p.N603H | Missense | 5/5 | - | 1 |
| 7-150174677-A-G | c.1807A>G | p.N603D | Missense | 5/5 | - | 1 |
| 7-150174680-A-G | c.1810A>G | p.K604E | Missense | 5/5 | - | 1 |
| 7-150174683-G-A | c.1813G>A | p.E605K | Missense | 5/5 | - | 7 |
| 7-150174683-G-C | c.1813G>C | p.E605Q | Missense | 5/5 | - | 1 |
| 7-150174694-G-A | c.1824G>A | p.Q608= | Synonymous | 5/5 | - | 3 |
| 7-150174696-C-T | c.1826C>T | p.A609V | Missense | 5/5 | - | 3 |
| 7-150174698-C-T | c.1828C>T | p.Q610* | Nonsense | 5/5 | - | 4 |
| 7-150174700-G-A | c.1830G>A | p.Q610= | Synonymous | 5/5 | - | 1 |
| 7-150174701-G-A | c.1831G>A | p.E611K | Missense | 5/5 | - | 4 |
| 7-150174706-C-A | c.1836C>A | p.T612= | Synonymous | 5/5 | - | 1 |
| 7-150174706-C-G | c.1836C>G | p.T612= | Synonymous | 5/5 | - | 1 |
| 7-150174706-C-T | c.1836C>T | p.T612= | Synonymous | 5/5 | - | 1 |
| 7-150174710-G-A | c.1840G>A | p.V614M | Missense | 5/5 | - | 2 |
| 7-150174716-G-A | c.1846G>A | p.A616T | Missense | 5/5 | - | 1 |
| 7-150174719-C-T | c.1849C>T | p.L617F | Missense | 5/5 | - | 6 |
| 7-150174723-T-C | c.1853T>C | p.L618S | Missense | 5/5 | - | 1 |
| 7-150174726-C-T | c.1856C>T | p.T619I | Missense | 5/5 | - | 1 |
| 7-150174729-A-C | c.1859A>C | p.K620T | Missense | 5/5 | - | 1 |
| 7-150174729-AG-A | c.1861del | p.V621Sfs*4 | Frameshift | 5/5 | - | 1 |
| 7-150174737-G-A | c.1867G>A | p.D623N | Missense | 5/5 | - | 7 |
| 7-150174737-G-T | c.1867G>T | p.D623Y | Missense | 5/5 | - | 1 |
| 7-150174740-C-T | c.1870C>T | p.L624= | Synonymous | 5/5 | - | 1 |
| 7-150174742-G-A | c.1872G>A | p.L624= | Synonymous | 5/5 | - | 2 |
| 7-150174742-G-C | c.1872G>C | p.L624= | Synonymous | 5/5 | - | 1 |
| 7-150174742-G-T | c.1872G>T | p.L624= | Synonymous | 5/5 | - | 1 |
| 7-150174744-G-A | c.1874G>A | p.R625K | Missense | 5/5 | - | 5 |
| 7-150174746-A-G | c.1876A>G | p.K626E | Missense | 5/5 | - | 3 |
| 7-150174749-G-A | c.1879G>A | p.E627K | Missense | 5/5 | - | 4 |
| 7-150174750-A-G | c.1880A>G | p.E627G | Missense | 5/5 | - | 2 |
| 7-150174753-G-A | c.1883G>A | p.S628N | Missense | 5/5 | - | 1 |
| 7-150174756-G-T | c.1886G>T | p.G629V | Missense | 5/5 | - | 1 |
| 7-150174757-G-A | c.1887G>A | p.G629= | Synonymous | 5/5 | - | 2 |
| 7-150174760-G-A | c.1890G>A | p.W630* | Nonsense | 5/5 | - | 1 |
| 7-150174762-C-T | c.1892C>T | p.S631F | Missense | 5/5 | - | 2 |
| 7-150174763-C-A | c.1893C>A | p.S631= | Synonymous | 5/5 | - | 1 |
| 7-150174763-C-G | c.1893C>G | p.S631= | Synonymous | 5/5 | - | 1 |
| 7-150174763-C-T | c.1893C>T | p.S631= | Synonymous | 5/5 | - | 4 |
| 7-150174764-G-A | c.1894G>A | p.G632R | Missense | 5/5 | - | 2 |
| 7-150174764-G-C | c.1894G>C | p.G632R | Missense | 5/5 | - | 2 |
| 7-150174770-C-T | c.1900C>T | p.P634S | Missense | 5/5 | - | 3 |
| 7-150174781-G-C | c.1911G>C | p.Q637H | Missense | 5/5 | - | 1 |
| 7-150174781-G-T | c.1911G>T | p.Q637H | Missense | 5/5 | - | 1 |
| 7-150174782-G-A | c.1912G>A | p.E638K | Missense | 5/5 | - | 2 |
| 7-150174787-C-T | c.1917C>T | p.N639= | Synonymous | 5/5 | - | 1 |
| 7-150174788-G-A | c.1918G>A | p.V640I | Missense | 5/5 | - | 5 |
| 7-150174804-A-C | c.1934A>C | p.K645T | Missense | 5/5 | - | 1 |
| 7-150174807-A-T | c.1937A>T | p.N646I | Missense | 5/5 | - | 1 |
| 7-150174811-C-T | c.1941C>T | p.V647= | Synonymous | 5/5 | - | 1 |
| 7-150174813-A-G | c.1943A>G | p.Q648R | Missense | 5/5 | - | 2 |
| 7-150174815-G-A | c.1945G>A | p.E649K | Missense | 5/5 | - | 10 |
| 7-150174815-G-C | c.1945G>C | p.E649Q | Missense | 5/5 | - | 1 |
| 7-150174820-G-A | c.1950G>A | p.M650I | Missense | 5/5 | - | 1 |
| 7-150174822-C-T | c.1952C>T | p.S651F | Missense | 5/5 | - | 7 |
| 7-150174829-C-CT | c.1959_1960insT | p.E654* | Nonsense | 5/5 | - | 1 |
| 7-150174829-C-T | c.1959C>T | p.A653= | Synonymous | 5/5 | - | 3 |
| 7-150174830-G-A | c.1960G>A | p.E654K | Missense | 5/5 | - | 17 |
| 7-150174831-A-G | c.1961A>G | p.E654G | Missense | 5/5 | - | 1 |
| 7-150174832-A-G | c.1962A>G | p.E654= | Synonymous | 5/5 | - | 2 |
| 7-150174836-C-G | c.1966C>G | p.L656V | Missense | 5/5 | - | 2 |
| 7-150174836-C-T | c.1966C>T | p.L656F | Missense | 5/5 | - | 1 |
| 7-150174837-T-C | c.1967T>C | p.L656P | Missense | 5/5 | - | 2 |
| 7-150174837-T-G | c.1967T>G | p.L656R | Missense | 5/5 | - | 2 |
| 7-150174838-C-A | c.1968C>A | p.L656= | Synonymous | 5/5 | - | 1 |
| 7-150174838-C-G | c.1968C>G | p.L656= | Synonymous | 5/5 | - | 1 |
| 7-150174838-C-T | c.1968C>T | p.L656= | Synonymous | 5/5 | - | 1 |
| 7-150174839-C-A | c.1969C>A | p.L657I | Missense | 5/5 | - | 1 |
| 7-150174841-T-C | c.1971T>C | p.L657= | Synonymous | 5/5 | - | 1 |
| 7-150174845-A-C | c.1975A>C | p.N659H | Missense | 5/5 | - | 1 |
| 7-150174852-TA-GC | c.1982_1983delinsGC | p.I661S | Missense | 5/5 | - | 1 |
| 7-150174854-G-A | c.1984G>A | p.G662S | Missense | 5/5 | - | 1 |
| 7-150174908-C-T | c.*40C>T | - | 3-UTRSNV | 5/5 | - | 1 |