| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 3-169684616-G-GT | c.6_7insT | p.E3* | Nonsense | 1/8 | - | 1 |
| 3-169684617-G-A | c.7G>A | p.E3K | Missense | 1/8 | - | 6 |
| 3-169684617-G-GA | c.9dup | p.R4Tfs*13 | Frameshift | 1/8 | - | 1 |
| 3-169684623-A-G | c.13A>G | p.R5G | Missense | 1/8 | - | 1 |
| 3-169684627-G-A | c.17G>A | p.R6K | Missense | 1/8 | - | 1 |
| 3-169684630-A-G | c.20A>G | p.H7R | Missense | 1/8 | - | 1 |
| 3-169684642-T-C | c.32T>C | p.I11T | Missense | 1/8 | - | 1 |
| 3-169684643-C-G | c.33C>G | p.I11M | Missense | 1/8 | - | 1 |
| 3-169684645-A-C | c.35A>C | p.Q12P | Missense | 1/8 | - | 1 |
| 3-169684687-G-C | c.36+41G>C | - | IntronicSNV | - | 1/7 | 5 |
| 3-169685374-G-C | c.36+728G>C | - | IntronicSNV | - | 1/7 | 1 |
| 3-169687033-TA-T | c.36+2397del | - | IntronicDeletion | - | 1/7 | 1 |
| 3-169687092-G-A | c.36+2446G>A | - | IntronicSNV | - | 1/7 | 1 |
| 3-169687354-G-A | c.36+2708G>A | - | IntronicSNV | - | 1/7 | 1 |
| 3-169693399-G-GAGGA | c.40_41insAGGA | p.V14Efs*4 | Frameshift | 2/8 | - | 1 |
| 3-169693409-C-T | c.50C>T | p.P17L | Missense | 2/8 | - | 1 |
| 3-169693414-A-C | c.55A>C | p.K19Q | Missense | 2/8 | - | 2 |
| 3-169693416-A-G | c.57A>G | p.K19= | Synonymous | 2/8 | - | 1 |
| 3-169693418-A-G | c.59A>G | p.E20G | Missense | 2/8 | - | 2 |
| 3-169693426-GCT-ATG | c.67_69delinsATG | p.A23M | Missense | 2/8 | - | 1 |
| 3-169693429-G-C | c.70G>C | p.V24L | Missense | 2/8 | - | 4 |
| 3-169693429-G-T | c.70G>T | p.V24L | Missense | 2/8 | - | 2 |
| 3-169693430-T-C | c.71T>C | p.V24A | Missense | 2/8 | - | 2 |
| 3-169693431-G-A | c.72G>A | p.V24= | Synonymous | 2/8 | - | 1 |
| 3-169693432-G-A | c.73G>A | p.A25T | Missense | 2/8 | - | 3 |
| 3-169693432-GGC-G | c.73_74del | p.A25Qfs*20 | Frameshift | 2/8 | - | 1 |
| 3-169693432-G-T | c.73G>T | p.A25S | Missense | 2/8 | - | 1 |
| 3-169693433-C-A | c.74C>A | p.A25D | Missense | 2/8 | - | 1 |
| 3-169693433-C-T | c.74C>T | p.A25V | Missense | 2/8 | - | 1 |
| 3-169693434-C-A | c.75C>A | p.A25= | Synonymous | 2/8 | - | 1 |
| 3-169693434-C-G | c.75C>G | p.A25= | Synonymous | 2/8 | - | 2 |
| 3-169693434-C-T | c.75C>T | p.A25= | Synonymous | 2/8 | - | 1 |
| 3-169693435-AA-CC | c.76_77delinsCC | p.K26P | Missense | 2/8 | - | 1 |
| 3-169693437-G-A | c.78G>A | p.K26= | Synonymous | 2/8 | - | 1 |
| 3-169693437-G-C | c.78G>C | p.K26N | Missense | 2/8 | - | 2 |
| 3-169693437-G-T | c.78G>T | p.K26N | Missense | 2/8 | - | 4 |
| 3-169693439-A-G | c.80A>G | p.Y27C | Missense | 2/8 | - | 3 |
| 3-169693451-A-G | c.92A>G | p.N31S | Missense | 2/8 | - | 3 |
| 3-169693457-C-A | c.98C>A | p.P33Q | Missense | 2/8 | - | 1 |
| 3-169693460-C-A | c.101C>A | p.T34K | Missense | 2/8 | - | 1 |
| 3-169693466-C-T | c.107C>T | p.S36F | Missense | 2/8 | - | 1 |
| 3-169693467-C-T | c.108C>T | p.S36= | Synonymous | 2/8 | - | 1 |
| 3-169693469-C-T | c.110C>T | p.T37I | Missense | 2/8 | - | 1 |
| 3-169693475-T-C | c.116T>C | p.M39T | Missense | 2/8 | - | 1 |
| 3-169693487-G-A | c.128G>A | p.R43Q | Missense | 2/8 | - | 1 |
| 3-169693487-G-T | c.128G>T | p.R43L | Missense | 2/8 | - | 1 |
| 3-169693489-G-C | c.130G>C | p.V44L | Missense | 2/8 | - | 1 |
| 3-169693492-G-C | c.133G>C | p.D45H | Missense | 2/8 | - | 1 |
| 3-169693497-T-A | c.138T>A | p.Y46* | Nonsense | 2/8 | - | 1 |
| 3-169693504-G-C | c.145G>C | p.A49P | Missense | 2/8 | - | 1 |
| 3-169694737-C-T | c.149C>T | p.S50L | Missense | 3/8 | - | 1 |
| 3-169694741-A-G | c.153A>G | p.K51= | Synonymous | 3/8 | - | 1 |
| 3-169694745-G-C | c.157G>C | p.V53L | Missense | 3/8 | - | 1 |
| 3-169694745-G-T | c.157G>T | p.V53L | Missense | 3/8 | - | 1 |
| 3-169694746-T-C | c.158T>C | p.V53A | Missense | 3/8 | - | 1 |
| 3-169694749-A-C | c.161A>C | p.D54A | Missense | 3/8 | - | 1 |
| 3-169694751-T-G | c.163T>G | p.C55G | Missense | 3/8 | - | 1 |
| 3-169694752-G-T | c.164G>T | p.C55F | Missense | 3/8 | - | 2 |
| 3-169694753-T-C | c.165T>C | p.C55= | Synonymous | 3/8 | - | 1 |
| 3-169694756-T-G | c.168T>G | p.L56= | Synonymous | 3/8 | - | 1 |
| 3-169694764-C-A | c.176C>A | p.S59* | Nonsense | 3/8 | - | 1 |
| 3-169694764-C-G | c.176C>G | p.S59* | Nonsense | 3/8 | - | 1 |
| 3-169694764-C-T | c.176C>T | p.S59L | Missense | 3/8 | - | 1 |
| 3-169694773-CA-AC | c.185_186delinsAC | p.A62D | Missense | 3/8 | - | 1 |
| 3-169694773-C-T | c.185C>T | p.A62V | Missense | 3/8 | - | 2 |
| 3-169694776-A-C | c.188A>C | p.K63T | Missense | 3/8 | - | 1 |
| 3-169694777-G-C | c.189G>C | p.K63N | Missense | 3/8 | - | 1 |
| 3-169694777-G-T | c.189G>T | p.K63N | Missense | 3/8 | - | 1 |
| 3-169694779-C-T | c.191C>T | p.A64V | Missense | 3/8 | - | 1 |
| 3-169694783-G-A | c.195G>A | p.K65= | Synonymous | 3/8 | - | 1 |
| 3-169694787-G-A | c.199G>A | p.G67R | Missense | 3/8 | - | 3 |
| 3-169694787-G-C | c.199G>C | p.G67R | Missense | 3/8 | - | 1 |
| 3-169694804-T-C | c.216T>C | p.F72= | Synonymous | 3/8 | - | 1 |
| 3-169694805-A-G | c.217A>G | p.T73A | Missense | 3/8 | - | 1 |
| 3-169694808-A-G | c.220A>G | p.T74A | Missense | 3/8 | - | 1 |
| 3-169694809-ACCAGGGAG-A | c.221_228del | p.T74Ifs*4 | Frameshift | 3/8 | - | 1 |
| 3-169694809-C-A | c.221C>A | p.T74N | Missense | 3/8 | - | 6 |
| 3-169694811-AGG-CAT | c.223_225delinsCAT | p.R75H | Missense | 3/8 | - | 1 |
| 3-169694814-G-T | c.226G>T | p.E76* | Nonsense | 3/8 | - | 1 |
| 3-169694816-AG-A | c.228del | p.E76Dfs*11 | Frameshift | 3/8 | - | 1 |
| 3-169694826-G-A | c.238G>A | p.D80N | Missense | 3/8 | - | 2 |
| 3-169694827-A-G | c.239A>G | p.D80G | Missense | 3/8 | - | 1 |
| 3-169694830-A-G | c.242A>G | p.Y81C | Missense | 3/8 | - | 1 |
| 3-169694834-C-T | c.246C>T | p.C82= | Synonymous | 3/8 | - | 1 |
| 3-169694835-A-C | c.247A>C | p.N83H | Missense | 3/8 | - | 1 |
| 3-169694840-G-T | c.251+1G>T | - | IntronicSNV | - | 3/7 | 1 |
| 3-169700461-G-T | c.252-34G>T | - | IntronicSNV | - | 3/7 | 1 |
| 3-169700495-G-C | c.252G>C | p.R84S | Missense | 4/8 | - | 1 |
| 3-169700495-G-T | c.252G>T | p.R84S | Missense | 4/8 | - | 1 |
| 3-169700499-TT-CC | c.256_257delinsCC | p.L86P | Missense | 4/8 | - | 1 |
| 3-169700511-T-C | c.268T>C | p.F90L | Missense | 4/8 | - | 1 |
| 3-169700513-T-A | c.270T>A | p.F90L | Missense | 4/8 | - | 1 |
| 3-169700513-T-G | c.270T>G | p.F90L | Missense | 4/8 | - | 1 |
| 3-169700512-T-G | c.269T>G | p.F90C | Missense | 4/8 | - | 1 |
| 3-169700514-T-G | c.271T>G | p.F91V | Missense | 4/8 | - | 1 |
| 3-169700519-C-T | c.276C>T | p.H92= | Synonymous | 4/8 | - | 1 |
| 3-169700520-CGA-TAT | c.277_279delinsTAT | p.R93Y | Missense | 4/8 | - | 1 |
| 3-169700520-CGA-TGG | c.277_279delinsTGG | p.R93W | Missense | 4/8 | - | 1 |
| 3-169700520-C-T | c.277C>T | p.R93* | Nonsense | 4/8 | - | 1 |
| 3-169700523-GC-TT | c.280_281delinsTT | p.A94F | Missense | 4/8 | - | 1 |
| 3-169700524-C-T | c.281C>T | p.A94V | Missense | 4/8 | - | 3 |
| 3-169700525-C-A | c.282C>A | p.A94= | Synonymous | 4/8 | - | 1 |
| 3-169700525-C-G | c.282C>G | p.A94= | Synonymous | 4/8 | - | 1 |
| 3-169700525-C-T | c.282C>T | p.A94= | Synonymous | 4/8 | - | 1 |
| 3-169700531-A-G | c.288A>G | p.K96= | Synonymous | 4/8 | - | 1 |
| 3-169700534-A-C | c.291A>C | p.V97= | Synonymous | 4/8 | - | 2 |
| 3-169700534-A-G | c.291A>G | p.V97= | Synonymous | 4/8 | - | 3 |
| 3-169700537-G-A | c.294G>A | p.M98I | Missense | 4/8 | - | 1 |
| 3-169700537-G-C | c.294G>C | p.M98I | Missense | 4/8 | - | 1 |
| 3-169700537-G-T | c.294G>T | p.M98I | Missense | 4/8 | - | 2 |
| 3-169700544-A-T | c.301A>T | p.K101* | Nonsense | 4/8 | - | 1 |
| 3-169700546-A-G | c.303A>G | p.K101= | Synonymous | 4/8 | - | 1 |
| 3-169700550-G-A | c.307G>A | p.D103N | Missense | 4/8 | - | 1 |
| 3-169700555-A-G | c.312A>G | p.K104= | Synonymous | 4/8 | - | 1 |
| 3-169700559-A-G | c.316A>G | p.I106V | Missense | 4/8 | - | 2 |
| 3-169700560-T-C | c.317T>C | p.I106T | Missense | 4/8 | - | 1 |
| 3-169700562-A-C | c.319A>C | p.K107Q | Missense | 4/8 | - | 1 |
| 3-169700563-A-G | c.320A>G | p.K107R | Missense | 4/8 | - | 1 |
| 3-169700564-G-A | c.321G>A | p.K107= | Synonymous | 4/8 | - | 2 |
| 3-169700572-A-T | c.329A>T | p.K110I | Missense | 4/8 | - | 1 |
| 3-169700574-G-A | c.331G>A | p.D111N | Missense | 4/8 | - | 1 |
| 3-169700582-A-G | c.339A>G | p.G113= | Synonymous | 4/8 | - | 1 |
| 3-169700586-G-T | c.343G>T | p.A115S | Missense | 4/8 | - | 1 |
| 3-169700588-T-A | c.345T>A | p.A115= | Synonymous | 4/8 | - | 1 |
| 3-169700592-A-G | c.349A>G | p.S117G | Missense | 4/8 | - | 1 |
| 3-169700593-G-A | c.350G>A | p.S117N | Missense | 4/8 | - | 2 |
| 3-169700601-G-A | c.358G>A | p.E120K | Missense | 4/8 | - | 1 |
| 3-169700606-A-C | c.363A>C | p.E121D | Missense | 4/8 | - | 1 |
| 3-169700606-A-T | c.363A>T | p.E121D | Missense | 4/8 | - | 2 |
| 3-169700615-G-C | c.372G>C | p.K124N | Missense | 4/8 | - | 1 |
| 3-169700615-G-T | c.372G>T | p.K124N | Missense | 4/8 | - | 1 |
| 3-169700620-A-G | c.377A>G | p.K126R | Missense | 4/8 | - | 5 |
| 3-169700621-G-C | c.378G>C | p.K126N | Missense | 4/8 | - | 1 |
| 3-169700621-G-T | c.378G>T | p.K126N | Missense | 4/8 | - | 1 |
| 3-169700631-A-G | c.388A>G | p.I130V | Missense | 4/8 | - | 3 |
| 3-169700636-G-A | c.393G>A | p.K131= | Synonymous | 4/8 | - | 1 |
| 3-169700643-A-T | c.400A>T | p.K134* | Nonsense | 4/8 | - | 1 |
| 3-169700645-G-C | c.402G>C | p.K134N | Missense | 4/8 | - | 3 |
| 3-169700645-G-T | c.402G>T | p.K134N | Missense | 4/8 | - | 2 |
| 3-169700646-A-C | c.403A>C | p.T135P | Missense | 4/8 | - | 1 |
| 3-169700647-C-A | c.404C>A | p.T135K | Missense | 4/8 | - | 1 |
| 3-169700647-CAAAAAAAGAAAAAGAGAAAAAA-C | c.408_429del | p.K137Mfs*58 | Frameshift | 4/8 | - | 1 |
| 3-169700651-A-AT | c.408_409insT | p.K137* | Nonsense | 4/8 | - | 1 |
| 3-169700652-A-C | c.409A>C | p.K137Q | Missense | 4/8 | - | 1 |
| 3-169700647-C-CA | c.411dup | p.E138Rfs*9 | Frameshift | 4/8 | - | 3 |
| 3-169700654-A-G | c.411A>G | p.K137= | Synonymous | 4/8 | - | 1 |
| 3-169700655-G-A | c.412G>A | p.E138K | Missense | 4/8 | - | 4 |
| 3-169700655-G-T | c.412G>T | p.E138* | Nonsense | 4/8 | - | 1 |
| 3-169700660-A-AT | c.417_418insT | p.E140* | Nonsense | 4/8 | - | 1 |
| 3-169700663-G-A | c.420G>A | p.E140= | Synonymous | 4/8 | - | 1 |
| 3-169700664-A-T | c.421A>T | p.K141* | Nonsense | 4/8 | - | 1 |
| 3-169700669-A-G | c.426A>G | p.K142= | Synonymous | 4/8 | - | 1 |
| 3-169700671-A-C | c.428A>C | p.K143T | Missense | 4/8 | - | 2 |
| 3-169700663-GA-G | c.429del | p.D144Mfs*58 | Frameshift | 4/8 | - | 1 |
| 3-169700663-G-GA | c.429dup | p.D144Rfs*3 | Frameshift | 4/8 | - | 5 |
| 3-169700673-AG-A | c.430del | p.D144Mfs*58 | Frameshift | 4/8 | - | 2 |
| 3-169700673-G-A | c.430G>A | p.D144N | Missense | 4/8 | - | 2 |
| 3-169700675-T-C | c.432T>C | p.D144= | Synonymous | 4/8 | - | 1 |
| 3-169700681-A-G | c.438A>G | p.E146= | Synonymous | 4/8 | - | 1 |
| 3-169700684-GGAA-G | c.445_447del | p.E149del | InFrameDeletion | 4/8 | - | 1 |
| 3-169700690-A-C | c.447A>C | p.E149D | Missense | 4/8 | - | 1 |
| 3-169700690-A-T | c.447A>T | p.E149D | Missense | 4/8 | - | 1 |
| 3-169700691-T-C | c.448T>C | p.S150P | Missense | 4/8 | - | 1 |
| 3-169700692-C-T | c.449C>T | p.S150F | Missense | 4/8 | - | 1 |
| 3-169700693-C-CA | c.455dup | p.E153Gfs*8 | Frameshift | 4/8 | - | 1 |
| 3-169700699-G-A | c.456G>A | p.K152= | Synonymous | 4/8 | - | 1 |
| 3-169700958-C-G | c.466C>G | p.P156A | Missense | 5/8 | - | 1 |
| 3-169700962-G-A | c.470G>A | p.G157E | Missense | 5/8 | - | 1 |
| 3-169700964-A-G | c.472A>G | p.T158A | Missense | 5/8 | - | 1 |
| 3-169700966-T-A | c.474T>A | p.T158= | Synonymous | 5/8 | - | 1 |
| 3-169700966-T-C | c.474T>C | p.T158= | Synonymous | 5/8 | - | 1 |
| 3-169700966-T-G | c.474T>G | p.T158= | Synonymous | 5/8 | - | 1 |
| 3-169700967-CC-TT | c.475_476delinsTT | p.P159F | Missense | 5/8 | - | 4 |
| 3-169700967-C-T | c.475C>T | p.P159S | Missense | 5/8 | - | 2 |
| 3-169700968-C-T | c.476C>T | p.P159L | Missense | 5/8 | - | 1 |
| 3-169700969-T-TA | c.482dup | p.K162Efs*4 | Frameshift | 5/8 | - | 1 |
| 3-169700986-A-G | c.494A>G | p.K165R | Missense | 5/8 | - | 1 |
| 3-169700989-A-G | c.497A>G | p.K166R | Missense | 5/8 | - | 1 |
| 3-169700987-GA-G | c.501del | p.K167Nfs*35 | Frameshift | 5/8 | - | 2 |
| 3-169700993-AAT-A | c.501_502del | p.K167Nfs*4 | Frameshift | 5/8 | - | 1 |
| 3-169700994-T-C | c.502T>C | p.F168L | Missense | 5/8 | - | 1 |
| 3-169700996-C-A | c.504C>A | p.F168L | Missense | 5/8 | - | 1 |
| 3-169700996-C-G | c.504C>G | p.F168L | Missense | 5/8 | - | 1 |
| 3-169700996-TCA-T | c.504_505del | p.F168Lfs*3 | Frameshift | 5/8 | - | 1 |
| 3-169701000-C-G | c.508C>G | p.L170V | Missense | 5/8 | - | 1 |
| 3-169701010-A-G | c.518A>G | p.H173R | Missense | 5/8 | - | 1 |
| 3-169701012-G-A | c.520G>A | p.D174N | Missense | 5/8 | - | 1 |
| 3-169701021-G-C | c.529G>C | p.V177L | Missense | 5/8 | - | 2 |
| 3-169701033-GGA-TGG | c.541_543delinsTGG | p.G181W | Missense | 5/8 | - | 1 |
| 3-169701041-G-C | c.549G>C | p.E183D | Missense | 5/8 | - | 1 |
| 3-169701041-G-T | c.549G>T | p.E183D | Missense | 5/8 | - | 1 |
| 3-169701832-C-T | c.549+791C>T | - | IntronicSNV | - | 5/7 | 1 |
| 3-169703596-T-C | c.553T>C | p.Y185H | Missense | 6/8 | - | 1 |
| 3-169703597-A-G | c.554A>G | p.Y185C | Missense | 6/8 | - | 2 |
| 3-169703604-G-A | c.561G>A | p.W187* | Nonsense | 6/8 | - | 1 |
| 3-169703609-A-G | c.566A>G | p.Y189C | Missense | 6/8 | - | 4 |
| 3-169703612-A-G | c.569A>G | p.D190G | Missense | 6/8 | - | 2 |
| 3-169703623-T-G | c.580T>G | p.F194V | Missense | 6/8 | - | 1 |
| 3-169703630-C-T | c.587C>T | p.T196I | Missense | 6/8 | - | 1 |
| 3-169703631-A-C | c.588A>C | p.T196= | Synonymous | 6/8 | - | 1 |
| 3-169703631-A-G | c.588A>G | p.T196= | Synonymous | 6/8 | - | 1 |
| 3-169703631-A-T | c.588A>T | p.T196= | Synonymous | 6/8 | - | 1 |
| 3-169703643-A-C | c.600A>C | p.G200= | Synonymous | 6/8 | - | 1 |
| 3-169703643-A-G | c.600A>G | p.G200= | Synonymous | 6/8 | - | 1 |
| 3-169703643-A-T | c.600A>T | p.G200= | Synonymous | 6/8 | - | 1 |
| 3-169703648-T-A | c.605T>A | p.I202N | Missense | 6/8 | - | 4 |
| 3-169703650-C-A | c.607C>A | p.L203I | Missense | 6/8 | - | 1 |
| 3-169703671-A-C | c.610+18A>C | - | IntronicSNV | - | 6/7 | 3 |
| 3-169706029-G-A | c.612G>A | p.V204= | Synonymous | 7/8 | - | 1 |
| 3-169706029-G-C | c.612G>C | p.V204= | Synonymous | 7/8 | - | 1 |
| 3-169706029-G-T | c.612G>T | p.V204= | Synonymous | 7/8 | - | 1 |
| 3-169706038-A-G | c.621A>G | p.V207= | Synonymous | 7/8 | - | 2 |
| 3-169706055-T-C | c.638T>C | p.F213S | Missense | 7/8 | - | 1 |
| 3-169706067-C-G | c.650C>G | p.P217R | Missense | 7/8 | - | 1 |
| 3-169706067-C-T | c.650C>T | p.P217L | Missense | 7/8 | - | 2 |
| 3-169706069-G-A | c.652G>A | p.A218T | Missense | 7/8 | - | 1 |
| 3-169706077-G-A | c.660G>A | p.M220I | Missense | 7/8 | - | 1 |
| 3-169706086-T-C | c.669T>C | p.G223= | Synonymous | 7/8 | - | 2 |
| 3-169706089-T-C | c.672T>C | p.V224= | Synonymous | 7/8 | - | 1 |
| 3-169706090-T-G | c.673T>G | p.Y225D | Missense | 7/8 | - | 1 |
| 3-169706091-A-G | c.674A>G | p.Y225C | Missense | 7/8 | - | 1 |
| 3-169706092-T-A | c.675T>A | p.Y225* | Nonsense | 7/8 | - | 1 |
| 3-169706092-T-G | c.675T>G | p.Y225* | Nonsense | 7/8 | - | 1 |
| 3-169706098-C-A | c.681C>A | p.L227= | Synonymous | 7/8 | - | 1 |
| 3-169706098-C-G | c.681C>G | p.L227= | Synonymous | 7/8 | - | 1 |
| 3-169706098-C-T | c.681C>T | p.L227= | Synonymous | 7/8 | - | 2 |
| 3-169706099-AGT-TGA | c.682_684delinsTGA | p.S228* | Nonsense | 7/8 | - | 1 |
| 3-169706100-G-A | c.683G>A | p.S228N | Missense | 7/8 | - | 2 |
| 3-169706103-T-C | c.686T>C | p.V229A | Missense | 7/8 | - | 1 |
| 3-169706109-C-A | c.692C>A | p.A231E | Missense | 7/8 | - | 1 |
| 3-169706111-G-A | c.694G>A | p.G232S | Missense | 7/8 | - | 3 |
| 3-169706124-C-G | c.707C>G | p.A236G | Missense | 7/8 | - | 1 |
| 3-169706125-C-A | c.708C>A | p.A236= | Synonymous | 7/8 | - | 1 |
| 3-169706125-C-G | c.708C>G | p.A236= | Synonymous | 7/8 | - | 1 |
| 3-169706125-C-T | c.708C>T | p.A236= | Synonymous | 7/8 | - | 2 |
| 3-169706129-A-G | c.712A>G | p.I238V | Missense | 7/8 | - | 1 |
| 3-169706137-C-A | c.720C>A | p.L240= | Synonymous | 7/8 | - | 1 |
| 3-169706137-C-G | c.720C>G | p.L240= | Synonymous | 7/8 | - | 1 |
| 3-169706137-C-T | c.720C>T | p.L240= | Synonymous | 7/8 | - | 2 |
| 3-169706142-C-T | c.725C>T | p.A242V | Missense | 7/8 | - | 1 |
| 3-169706144-G-A | c.727G>A | p.V243I | Missense | 7/8 | - | 1 |
| 3-169706144-G-T | c.727G>T | p.V243F | Missense | 7/8 | - | 1 |
| 3-169706145-T-C | c.728T>C | p.V243A | Missense | 7/8 | - | 4 |
| 3-169706147-G-T | c.730G>T | p.A244S | Missense | 7/8 | - | 1 |
| 3-169710363-G-T | c.731-19G>T | - | IntronicSNV | - | 7/7 | 4 |
| 3-169710386-A-G | c.735A>G | p.R245= | Synonymous | 8/8 | - | 1 |
| 3-169710393-C-A | c.742C>A | p.L248I | Missense | 8/8 | - | 1 |
| 3-169710393-C-T | c.742C>T | p.L248= | Synonymous | 8/8 | - | 1 |
| 3-169710395-A-C | c.744A>C | p.L248= | Synonymous | 8/8 | - | 1 |
| 3-169710395-A-G | c.744A>G | p.L248= | Synonymous | 8/8 | - | 1 |
| 3-169710395-A-T | c.744A>T | p.L248= | Synonymous | 8/8 | - | 1 |
| 3-169710399-C-A | c.748C>A | p.L250I | Missense | 8/8 | - | 1 |
| 3-169710401-C-A | c.750C>A | p.L250= | Synonymous | 8/8 | - | 2 |
| 3-169710401-C-G | c.750C>G | p.L250= | Synonymous | 8/8 | - | 1 |
| 3-169710401-C-T | c.750C>T | p.L250= | Synonymous | 8/8 | - | 1 |
| 3-169710417-A-T | c.766A>T | p.T256S | Missense | 8/8 | - | 1 |
| 3-169710422-A-G | c.771A>G | p.G257= | Synonymous | 8/8 | - | 1 |
| 3-169710426-AG-CA | c.775_776delinsCA | p.R259Q | Missense | 8/8 | - | 1 |
| 3-169710430-A-G | c.779A>G | p.H260R | Missense | 8/8 | - | 1 |
| 3-169710432-C-G | c.781C>G | p.H261D | Missense | 8/8 | - | 1 |
| 3-169710433-A-G | c.782A>G | p.H261R | Missense | 8/8 | - | 1 |
| 3-169710435-CTTTT-C | c.784_787del | p.F262Gfs*6 | Frameshift | 8/8 | - | 1 |
| 3-169710441-T-C | c.790T>C | p.F264L | Missense | 8/8 | - | 1 |
| 3-169710443-C-A | c.792C>A | p.F264L | Missense | 8/8 | - | 1 |
| 3-169710443-C-G | c.792C>G | p.F264L | Missense | 8/8 | - | 1 |
| 3-169710447-C-A | c.796C>A | p.P266T | Missense | 8/8 | - | 1 |
| 3-169710453-C-T | c.802C>T | p.L268= | Synonymous | 8/8 | - | 1 |
| 3-169710455-G-A | c.804G>A | p.L268= | Synonymous | 8/8 | - | 1 |
| 3-169710455-G-C | c.804G>C | p.L268= | Synonymous | 8/8 | - | 1 |
| 3-169710455-G-T | c.804G>T | p.L268= | Synonymous | 8/8 | - | 1 |
| 3-169710457-C-T | c.806C>T | p.T269I | Missense | 8/8 | - | 1 |
| 3-169710460-C-T | c.809C>T | p.A270V | Missense | 8/8 | - | 2 |
| 3-169710465-G-A | c.814G>A | p.V272M | Missense | 8/8 | - | 2 |
| 3-169710465-G-GT | c.815dup | p.F274Lfs*3 | Frameshift | 8/8 | - | 1 |
| 3-169710471-T-G | c.820T>G | p.F274V | Missense | 8/8 | - | 1 |
| 3-169710478-A-G | c.827A>G | p.D276G | Missense | 8/8 | - | 1 |
| 3-169710481-C-T | c.830C>T | p.S277F | Missense | 8/8 | - | 1 |
| 3-169710482-C-T | c.831C>T | p.S277= | Synonymous | 8/8 | - | 1 |
| 3-169710485-C-T | c.834C>T | p.F278= | Synonymous | 8/8 | - | 1 |
| 3-169710486-A-G | c.835A>G | p.R279G | Missense | 8/8 | - | 5 |
| 3-169710494-G-A | c.843G>A | p.L281= | Synonymous | 8/8 | - | 1 |
| 3-169710508-A-G | c.857A>G | p.Y286C | Missense | 8/8 | - | 1 |
| 3-169710513-G-A | c.862G>A | p.G288R | Missense | 8/8 | - | 1 |
| 3-169710513-G-C | c.862G>C | p.G288R | Missense | 8/8 | - | 1 |
| 3-169710530-A-C | c.879A>C | p.L293F | Missense | 8/8 | - | 1 |
| 3-169710530-A-T | c.879A>T | p.L293F | Missense | 8/8 | - | 1 |
| 3-169710530-AAAG-A | c.882_884del | p.K295del | InFrameDeletion | 8/8 | - | 1 |
| 3-169710536-A-G | c.885A>G | p.K295= | Synonymous | 8/8 | - | 1 |
| 3-169710539-T-C | c.888T>C | p.D296= | Synonymous | 8/8 | - | 1 |
| 3-169710540-G-A | c.889G>A | p.E297K | Missense | 8/8 | - | 1 |
| 3-169710564-C-G | c.913C>G | p.Q305E | Missense | 8/8 | - | 1 |
| 3-169710565-A-G | c.914A>G | p.Q305R | Missense | 8/8 | - | 1 |
| 3-169710566-G-A | c.915G>A | p.Q305= | Synonymous | 8/8 | - | 1 |
| 3-169710570-TC-AA | c.919_920delinsAA | p.S307N | Missense | 8/8 | - | 1 |
| 3-169710572-C-A | c.921C>A | p.S307= | Synonymous | 8/8 | - | 1 |
| 3-169710574-A-C | c.923A>C | p.D308A | Missense | 8/8 | - | 3 |
| 3-169710576-A-G | c.925A>G | p.S309G | Missense | 8/8 | - | 1 |
| 3-169710576-AGT-TGA | c.925_927delinsTGA | p.S309* | Nonsense | 8/8 | - | 1 |
| 3-169710577-G-A | c.926G>A | p.S309N | Missense | 8/8 | - | 1 |
| 3-169710578-T-C | c.927T>C | p.S309= | Synonymous | 8/8 | - | 1 |
| 3-169710580-A-G | c.929A>G | p.E310G | Missense | 8/8 | - | 1 |
| 3-169710581-G-T | c.930G>T | p.E310D | Missense | 8/8 | - | 1 |
| 3-169710590-A-C | c.939A>C | p.S313= | Synonymous | 8/8 | - | 1 |
| 3-169710590-A-G | c.939A>G | p.S313= | Synonymous | 8/8 | - | 1 |
| 3-169710590-A-T | c.939A>T | p.S313= | Synonymous | 8/8 | - | 1 |
| 3-169710594-A-C | c.943A>C | p.S315R | Missense | 8/8 | - | 4 |
| 3-169710596-T-A | c.945T>A | p.S315R | Missense | 8/8 | - | 2 |
| 3-169710596-T-G | c.945T>G | p.S315R | Missense | 8/8 | - | 2 |
| 3-169710597-G-A | c.946G>A | p.E316K | Missense | 8/8 | - | 1 |
| 3-169710604-A-G | c.953A>G | p.K318R | Missense | 8/8 | - | 1 |
| 3-169710607-A-G | c.956A>G | p.E319G | Missense | 8/8 | - | 1 |
| 3-169710614-G-C | c.963G>C | p.E321D | Missense | 8/8 | - | 6 |
| 3-169710614-G-T | c.963G>T | p.E321D | Missense | 8/8 | - | 5 |
| 3-169710616-A-G | c.965A>G | p.E322G | Missense | 8/8 | - | 2 |
| 3-169710618-G-A | c.967G>A | p.G323R | Missense | 8/8 | - | 2 |
| 3-169710618-G-C | c.967G>C | p.G323R | Missense | 8/8 | - | 1 |
| 3-169710618-G-T | c.967G>T | p.G323W | Missense | 8/8 | - | 2 |
| 3-169710621-A-AG | c.970_971insG | p.K324Rfs*23 | Frameshift | 8/8 | - | 2 |
| 3-169710624-G-C | c.973G>C | p.V325L | Missense | 8/8 | - | 1 |
| 3-169710624-G-T | c.973G>T | p.V325L | Missense | 8/8 | - | 1 |
| 3-169710625-T-G | c.974T>G | p.V325G | Missense | 8/8 | - | 1 |
| 3-169710631-C-A | c.980C>A | p.P327Q | Missense | 8/8 | - | 1 |
| 3-169710632-A-G | c.981A>G | p.P327= | Synonymous | 8/8 | - | 1 |
| 3-169710633-G-A | c.982G>A | p.G328R | Missense | 8/8 | - | 1 |
| 3-169710637-A-G | c.986A>G | p.N329S | Missense | 8/8 | - | 1 |
| 3-169710641-T-C | c.990T>C | p.H330= | Synonymous | 8/8 | - | 1 |
| 3-169710643-G-T | c.992G>T | p.G331V | Missense | 8/8 | - | 1 |
| 3-169710647-A-C | c.996A>C | p.T332= | Synonymous | 8/8 | - | 1 |
| 3-169710647-A-G | c.996A>G | p.T332= | Synonymous | 8/8 | - | 1 |
| 3-169710647-A-T | c.996A>T | p.T332= | Synonymous | 8/8 | - | 1 |
| 3-169710654-T-TC | c.1004dup | p.E338Rfs*9 | Frameshift | 8/8 | - | 1 |
| 3-169710655-C-T | c.1004C>T | p.S335L | Missense | 8/8 | - | 2 |
| 3-169710656-G-A | c.1005G>A | p.S335= | Synonymous | 8/8 | - | 3 |
| 3-169710656-G-C | c.1005G>C | p.S335= | Synonymous | 8/8 | - | 3 |
| 3-169710656-G-T | c.1005G>T | p.S335= | Synonymous | 8/8 | - | 3 |
| 3-169710655-C-CG | c.1010dup | p.E338Rfs*9 | Frameshift | 8/8 | - | 1 |
| 3-169710661-G-GA | c.1011dup | p.E338Rfs*9 | Frameshift | 8/8 | - | 1 |
| 3-169710666-C-T | c.1015C>T | p.R339W | Missense | 8/8 | - | 4 |
| 3-169710667-G-C | c.1016G>C | p.R339P | Missense | 8/8 | - | 2 |
| 3-169710669-C-G | c.1018C>G | p.H340D | Missense | 8/8 | - | 1 |
| 3-169710670-A-C | c.1019A>C | p.H340P | Missense | 8/8 | - | 1 |
| 3-169710676-A-G | c.1025A>G | p.D342G | Missense | 8/8 | - | 1 |
| 3-169710679-C-T | c.1028C>T | p.T343M | Missense | 8/8 | - | 1 |
| 3-169710680-G-A | c.1029G>A | p.T343= | Synonymous | 8/8 | - | 1 |
| 3-169710680-G-C | c.1029G>C | p.T343= | Synonymous | 8/8 | - | 1 |
| 3-169710680-G-T | c.1029G>T | p.T343= | Synonymous | 8/8 | - | 1 |
| 3-169710685-G-T | c.1034G>T | p.S345I | Missense | 8/8 | - | 1 |
| 3-169710686-T-C | c.1035T>C | p.S345= | Synonymous | 8/8 | - | 1 |
| 3-169710687-G-A | c.1036G>A | p.D346N | Missense | 8/8 | - | 1 |
| 3-169710700-A-G | c.1049A>G | p.D350G | Missense | 8/8 | - | 1 |
| 3-169710702-G-A | c.1051G>A | p.D351N | Missense | 8/8 | - | 1 |
| 3-169710706-G-A | c.1055G>A | p.R352Q | Missense | 8/8 | - | 1 |
| 3-169710710-C-T | c.1059C>T | p.S353= | Synonymous | 8/8 | - | 1 |
| 3-169710716-C-T | c.1065C>T | p.H355= | Synonymous | 8/8 | - | 4 |
| 3-169710717-AG-TT | c.1066_1067delinsTT | p.S356F | Missense | 8/8 | - | 1 |
| 3-169710719-T-C | c.1068T>C | p.S356= | Synonymous | 8/8 | - | 1 |
| 3-169710720-A-G | c.1069A>G | p.S357G | Missense | 8/8 | - | 1 |
| 3-169710722-T-C | c.1071T>C | p.S357= | Synonymous | 8/8 | - | 1 |
| 3-169710724-G-C | c.1073G>C | p.G358A | Missense | 8/8 | - | 1 |
| 3-169710728-T-C | c.1077T>C | p.N359= | Synonymous | 8/8 | - | 1 |
| 3-169710738-TT-GC | c.1087_1088delinsGC | p.F363A | Missense | 8/8 | - | 1 |
| 3-169710741-G-T | c.1090G>T | p.E364* | Nonsense | 8/8 | - | 1 |
| 3-169710742-A-C | c.1091A>C | p.E364A | Missense | 8/8 | - | 1 |
| 3-169710750-ACA-GAC | c.1099_1101delinsGAC | p.T367D | Missense | 8/8 | - | 1 |
| 3-169710756-G-A | c.1105G>A | p.E369K | Missense | 8/8 | - | 2 |
| 3-169710759-G-A | c.1108G>A | p.E370K | Missense | 8/8 | - | 1 |
| 3-169710765-G-C | c.1114G>C | p.E372Q | Missense | 8/8 | - | 1 |
| 3-169710767-A-G | c.1116A>G | p.E372= | Synonymous | 8/8 | - | 1 |
| 3-169710772-A-T | c.1121A>T | p.Q374L | Missense | 8/8 | - | 1 |
| 3-169710773-A-G | c.1122A>G | p.Q374= | Synonymous | 8/8 | - | 1 |
| 3-169710776-A-C | c.1125A>C | p.T375= | Synonymous | 8/8 | - | 1 |
| 3-169710776-A-G | c.1125A>G | p.T375= | Synonymous | 8/8 | - | 1 |
| 3-169710776-A-T | c.1125A>T | p.T375= | Synonymous | 8/8 | - | 1 |
| 3-169710777-G-C | c.1126G>C | p.D376H | Missense | 8/8 | - | 1 |
| 3-169710781-G-T | c.1130G>T | p.G377V | Missense | 8/8 | - | 2 |
| 3-169710783-G-C | c.1132G>C | p.D378H | Missense | 8/8 | - | 1 |
| 3-169710787-G-A | c.1136G>A | p.C379Y | Missense | 8/8 | - | 2 |
| 3-169710794-G-T | c.1143G>T | p.E381D | Missense | 8/8 | - | 1 |
| 3-169710797-T-A | c.1146T>A | p.D382E | Missense | 8/8 | - | 1 |
| 3-169710797-T-G | c.1146T>G | p.D382E | Missense | 8/8 | - | 1 |
| 3-169710803-A-G | c.1152A>G | p.E384= | Synonymous | 8/8 | - | 1 |
| 3-169710808-A-C | c.1157A>C | p.E386A | Missense | 8/8 | - | 1 |
| 3-169710811-A-G | c.1160A>G | p.N387S | Missense | 8/8 | - | 2 |
| 3-169710813-G-A | c.1162G>A | p.D388N | Missense | 8/8 | - | 2 |
| 3-169710816-G-A | c.1165G>A | p.G389R | Missense | 8/8 | - | 1 |
| 3-169710816-G-C | c.1165G>C | p.G389R | Missense | 8/8 | - | 1 |
| 3-169710817-G-A | c.1166G>A | p.G389E | Missense | 8/8 | - | 1 |
| 3-169710827-T-G | c.1176T>G | p.P392= | Synonymous | 8/8 | - | 1 |
| 3-169710829-A-C | c.1178A>C | p.K393T | Missense | 8/8 | - | 1 |
| 3-169710832-C-G | c.1181C>G | p.S394C | Missense | 8/8 | - | 1 |
| 3-169710835-C-T | c.1184C>T | p.S395L | Missense | 8/8 | - | 1 |
| 3-169710839-T-A | c.1188T>A | p.H396Q | Missense | 8/8 | - | 1 |
| 3-169710839-T-G | c.1188T>G | p.H396Q | Missense | 8/8 | - | 2 |
| 3-169710840-G-C | c.1189G>C | p.E397Q | Missense | 8/8 | - | 1 |
| 3-169710840-G-T | c.1189G>T | p.E397* | Nonsense | 8/8 | - | 2 |
| 3-169710842-A-G | c.1191A>G | p.E397= | Synonymous | 8/8 | - | 1 |
| 3-169711719-T-C | c.*868T>C | - | 3-UTRSNV | 8/8 | - | 1 |
| 3-169712558-A-G | c.*1707A>G | - | 3-UTRSNV | 8/8 | - | 1 |
| 3-169713483-C-G | c.*2632C>G | - | 3-UTRSNV | 8/8 | - | 3 |
| 3-169713483-C-T | c.*2632C>T | - | 3-UTRSNV | 8/8 | - | 3 |
| 3-169713732-A-G | c.*2881A>G | - | 3-UTRSNV | 8/8 | - | 3 |
| 3-169713732-A-T | c.*2881A>T | - | 3-UTRSNV | 8/8 | - | 3 |
| 3-169714142-A-G | c.*3291A>G | - | 3-UTRSNV | 8/8 | - | 3 |
| 3-169714801-T-C | c.*3950T>C | - | 3-UTRSNV | 8/8 | - | 1 |
| 3-169715248-T-G | c.*4397T>G | - | 3-UTRSNV | 8/8 | - | 1 |