| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 8-30643454-A-T | c.*297T>A | - | 3-UTRSNV | 7/7 | - | 1 |
| 8-30643521-G-A | c.*230C>T | - | 3-UTRSNV | 7/7 | - | 1 |
| 8-30643538-C-CCTAT | c.*212_*213insATAG | - | 3-UTRInsertion | 7/7 | - | 2 |
| 8-30643587-A-G | c.*164T>C | - | 3-UTRSNV | 7/7 | - | 1 |
| 8-30643755-A-C | c.926T>G | p.L309R | Missense | 7/7 | - | 1 |
| 8-30643756-GGAA-G | c.922_924del | p.F308del | InFrameDeletion | 7/7 | - | 1 |
| 8-30643763-G-C | c.918C>G | p.D306E | Missense | 7/7 | - | 1 |
| 8-30643763-G-T | c.918C>A | p.D306E | Missense | 7/7 | - | 2 |
| 8-30643765-C-T | c.916G>A | p.D306N | Missense | 7/7 | - | 2 |
| 8-30643766-T-G | c.915A>C | p.P305= | Synonymous | 7/7 | - | 2 |
| 8-30643767-G-T | c.914C>A | p.P305Q | Missense | 7/7 | - | 1 |
| 8-30643773-C-T | c.908G>A | p.R303H | Missense | 7/7 | - | 2 |
| 8-30643774-G-T | c.907C>A | p.R303S | Missense | 7/7 | - | 1 |
| 8-30643783-C-T | c.898G>A | p.V300I | Missense | 7/7 | - | 1 |
| 8-30643798-G-A | c.883C>T | p.R295C | Missense | 7/7 | - | 1 |
| 8-30643799-ACG-TCA | c.880_882delinsTGA | p.R294* | Nonsense | 7/7 | - | 1 |
| 8-30643801-G-A | c.880C>T | p.R294C | Missense | 7/7 | - | 4 |
| 8-30643802-A-C | c.879T>G | p.P293= | Synonymous | 7/7 | - | 1 |
| 8-30643802-A-G | c.879T>C | p.P293= | Synonymous | 7/7 | - | 1 |
| 8-30643802-A-T | c.879T>A | p.P293= | Synonymous | 7/7 | - | 1 |
| 8-30643806-G-A | c.875C>T | p.A292V | Missense | 7/7 | - | 1 |
| 8-30643808-T-C | c.873A>G | p.P291= | Synonymous | 7/7 | - | 1 |
| 8-30643810-G-A | c.871C>T | p.P291S | Missense | 7/7 | - | 1 |
| 8-30643817-T-C | c.864A>G | p.Q288= | Synonymous | 7/7 | - | 1 |
| 8-30643819-G-A | c.862C>T | p.Q288* | Nonsense | 7/7 | - | 3 |
| 8-30643822-G-T | c.859C>A | p.L287I | Missense | 7/7 | - | 1 |
| 8-30646539-C-T | c.857+2174G>A | - | IntronicSNV | - | 6/6 | 1 |
| 8-30647243-A-C | c.857+1470T>G | - | IntronicSNV | - | 6/6 | 1 |
| 8-30648711-A-G | c.857+2T>C | - | IntronicSNV | - | 6/6 | 1 |
| 8-30648715-G-A | c.855C>T | p.S285= | Synonymous | 6/7 | - | 1 |
| 8-30648741-C-A | c.829G>T | p.E277* | Nonsense | 6/7 | - | 1 |
| 8-30648745-G-A | c.825C>T | p.I275= | Synonymous | 6/7 | - | 1 |
| 8-30648745-G-T | c.825C>A | p.I275= | Synonymous | 6/7 | - | 1 |
| 8-30648750-C-G | c.820G>C | p.A274P | Missense | 6/7 | - | 1 |
| 8-30648767-C-T | c.803G>A | p.R268H | Missense | 6/7 | - | 6 |
| 8-30648781-G-T | c.789C>A | p.P263= | Synonymous | 6/7 | - | 1 |
| 8-30648808-C-T | c.762G>A | p.R254= | Synonymous | 6/7 | - | 1 |
| 8-30648809-C-A | c.761G>T | p.R254L | Missense | 6/7 | - | 1 |
| 8-30648809-C-T | c.761G>A | p.R254Q | Missense | 6/7 | - | 2 |
| 8-30648817-A-G | c.753T>C | p.C251= | Synonymous | 6/7 | - | 1 |
| 8-30648823-A-C | c.747T>G | p.N249K | Missense | 6/7 | - | 1 |
| 8-30648823-A-T | c.747T>A | p.N249K | Missense | 6/7 | - | 1 |
| 8-30648830-C-A | c.740G>T | p.G247V | Missense | 6/7 | - | 2 |
| 8-30648830-C-T | c.740G>A | p.G247E | Missense | 6/7 | - | 1 |
| 8-30648831-C-T | c.739G>A | p.G247R | Missense | 6/7 | - | 1 |
| 8-30651354-C-G | c.738+79G>C | - | IntronicSNV | - | 5/6 | 1 |
| 8-30651433-C-A | c.738G>T | p.E246D | Missense | 5/7 | - | 1 |
| 8-30651433-C-T | c.738G>A | p.E246= | Synonymous | 5/7 | - | 1 |
| 8-30651438-T-C | c.733A>G | p.M245V | Missense | 5/7 | - | 3 |
| 8-30651452-G-T | c.719C>A | p.A240D | Missense | 5/7 | - | 1 |
| 8-30651455-C-T | c.716G>A | p.R239H | Missense | 5/7 | - | 1 |
| 8-30651456-G-A | c.715C>T | p.R239C | Missense | 5/7 | - | 5 |
| 8-30651458-G-A | c.713C>T | p.S238F | Missense | 5/7 | - | 1 |
| 8-30651484-G-A | c.687C>T | p.N229= | Synonymous | 5/7 | - | 1 |
| 8-30651495-C-A | c.676G>T | p.E226* | Nonsense | 5/7 | - | 1 |
| 8-30651495-C-T | c.676G>A | p.E226K | Missense | 5/7 | - | 1 |
| 8-30651498-A-C | c.673T>G | p.S225A | Missense | 5/7 | - | 1 |
| 8-30651498-A-T | c.673T>A | p.S225T | Missense | 5/7 | - | 2 |
| 8-30651500-A-C | c.671T>G | p.I224S | Missense | 5/7 | - | 1 |
| 8-30651513-A-T | c.658T>A | p.F220I | Missense | 5/7 | - | 1 |
| 8-30651518-T-C | c.653A>G | p.Y218C | Missense | 5/7 | - | 2 |
| 8-30651524-G-A | c.647C>T | p.A216V | Missense | 5/7 | - | 1 |
| 8-30651531-G-A | c.640C>T | p.R214C | Missense | 5/7 | - | 1 |
| 8-30651532-T-A | c.639A>T | p.P213= | Synonymous | 5/7 | - | 1 |
| 8-30651532-T-C | c.639A>G | p.P213= | Synonymous | 5/7 | - | 2 |
| 8-30651532-T-G | c.639A>C | p.P213= | Synonymous | 5/7 | - | 1 |
| 8-30651533-G-A | c.638C>T | p.P213L | Missense | 5/7 | - | 1 |
| 8-30651536-G-C | c.635C>G | p.S212* | Nonsense | 5/7 | - | 2 |
| 8-30651536-G-T | c.635C>A | p.S212* | Nonsense | 5/7 | - | 3 |
| 8-30651544-C-T | c.627G>A | p.W209* | Nonsense | 5/7 | - | 1 |
| 8-30651545-C-T | c.626G>A | p.W209* | Nonsense | 5/7 | - | 1 |
| 8-30651547-T-A | c.624A>T | p.G208= | Synonymous | 5/7 | - | 1 |
| 8-30651547-T-C | c.624A>G | p.G208= | Synonymous | 5/7 | - | 1 |
| 8-30651547-T-G | c.624A>C | p.G208= | Synonymous | 5/7 | - | 1 |
| 8-30651555-G-A | c.616C>T | p.R206C | Missense | 5/7 | - | 2 |
| 8-30651564-G-A | c.607C>T | p.P203S | Missense | 5/7 | - | 1 |
| 8-30651569-G-A | c.602C>T | p.S201L | Missense | 5/7 | - | 2 |
| 8-30651569-G-C | c.602C>G | p.S201* | Nonsense | 5/7 | - | 1 |
| 8-30651569-G-T | c.602C>A | p.S201* | Nonsense | 5/7 | - | 1 |
| 8-30651574-T-C | c.597A>G | p.L199= | Synonymous | 5/7 | - | 1 |
| 8-30651576-A-G | c.595T>C | p.L199= | Synonymous | 5/7 | - | 1 |
| 8-30651577-C-A | c.594G>T | p.L198= | Synonymous | 5/7 | - | 1 |
| 8-30651577-C-G | c.594G>C | p.L198= | Synonymous | 5/7 | - | 1 |
| 8-30651583-A-C | c.588T>G | p.C196W | Missense | 5/7 | - | 1 |
| 8-30651729-ACG-CCA | c.553_555delinsTGG | p.R185W | Missense | 4/7 | - | 1 |
| 8-30651729-AC-TT | c.554_555delinsAA | p.R185Q | Missense | 4/7 | - | 1 |
| 8-30651736-AG-GC | c.547_548delinsGC | p.L183A | Missense | 4/7 | - | 1 |
| 8-30651737-G-T | c.547C>A | p.L183M | Missense | 4/7 | - | 1 |
| 8-30651755-G-A | c.529C>T | p.L177= | Synonymous | 4/7 | - | 1 |
| 8-30651770-G-A | c.514C>T | p.P172S | Missense | 4/7 | - | 4 |
| 8-30651775-A-T | c.509T>A | p.L170H | Missense | 4/7 | - | 2 |
| 8-30651782-C-G | c.502G>C | p.G168R | Missense | 4/7 | - | 4 |
| 8-30651786-G-A | c.498C>T | p.L166= | Synonymous | 4/7 | - | 1 |
| 8-30651786-G-C | c.498C>G | p.L166= | Synonymous | 4/7 | - | 1 |
| 8-30651786-G-T | c.498C>A | p.L166= | Synonymous | 4/7 | - | 1 |
| 8-30651789-G-A | c.495C>T | p.C165= | Synonymous | 4/7 | - | 1 |
| 8-30655103-A-C | c.480T>G | p.D160E | Missense | 3/7 | - | 1 |
| 8-30655103-A-T | c.480T>A | p.D160E | Missense | 3/7 | - | 2 |
| 8-30655104-T-C | c.479A>G | p.D160G | Missense | 3/7 | - | 1 |
| 8-30655114-C-T | c.469G>A | p.A157T | Missense | 3/7 | - | 3 |
| 8-30655116-G-A | c.467C>T | p.T156I | Missense | 3/7 | - | 4 |
| 8-30655136-G-A | c.447C>T | p.L149= | Synonymous | 3/7 | - | 1 |
| 8-30655136-G-C | c.447C>G | p.L149= | Synonymous | 3/7 | - | 1 |
| 8-30655136-G-T | c.447C>A | p.L149= | Synonymous | 3/7 | - | 1 |
| 8-30655138-G-T | c.445C>A | p.L149I | Missense | 3/7 | - | 1 |
| 8-30655140-T-C | c.443A>G | p.D148G | Missense | 3/7 | - | 4 |
| 8-30655140-T-G | c.443A>C | p.D148A | Missense | 3/7 | - | 1 |
| 8-30655158-A-G | c.425T>C | p.V142A | Missense | 3/7 | - | 1 |
| 8-30655159-C-T | c.424G>A | p.V142I | Missense | 3/7 | - | 2 |
| 8-30655160-G-A | c.423C>T | p.N141= | Synonymous | 3/7 | - | 2 |
| 8-30655167-T-C | c.416A>G | p.N139S | Missense | 3/7 | - | 1 |
| 8-30655170-C-T | c.413G>A | p.G138E | Missense | 3/7 | - | 1 |
| 8-30655176-T-C | c.407A>G | p.K136R | Missense | 3/7 | - | 1 |
| 8-30655177-T-C | c.406A>G | p.K136E | Missense | 3/7 | - | 1 |
| 8-30655178-TC-AT | c.404_405delinsAT | p.R135H | Missense | 3/7 | - | 1 |
| 8-30655180-G-A | c.403C>T | p.R135* | Nonsense | 3/7 | - | 1 |
| 8-30655183-G-T | c.400C>A | p.L134M | Missense | 3/7 | - | 1 |
| 8-30655186-A-G | c.397T>C | p.C133R | Missense | 3/7 | - | 3 |
| 8-30655194-T-C | c.389A>G | p.Y130C | Missense | 3/7 | - | 1 |
| 8-30655200-C-A | c.383G>T | p.G128V | Missense | 3/7 | - | 1 |
| 8-30655229-G-A | c.354C>T | p.H118= | Synonymous | 3/7 | - | 1 |
| 8-30655245-A-G | c.338T>C | p.I113T | Missense | 3/7 | - | 1 |
| 8-30655255-G-A | c.328C>T | p.R110C | Missense | 3/7 | - | 2 |
| 8-30655261-G-A | c.322C>T | p.P108S | Missense | 3/7 | - | 2 |
| 8-30655261-G-T | c.322C>A | p.P108T | Missense | 3/7 | - | 2 |
| 8-30655262-A-C | c.321T>G | p.Y107* | Nonsense | 3/7 | - | 1 |
| 8-30655266-C-T | c.317G>A | p.R106H | Missense | 3/7 | - | 1 |
| 8-30655267-G-A | c.316C>T | p.R106C | Missense | 3/7 | - | 4 |
| 8-30655363-G-A | c.313-93C>T | - | IntronicSNV | - | 2/6 | 3 |
| 8-30656960-A-G | c.312+102T>C | - | IntronicSNV | - | 2/6 | 1 |
| 8-30657062-C-A | c.312G>T | p.K104N | Missense | 2/7 | - | 3 |
| 8-30657062-C-G | c.312G>C | p.K104N | Missense | 2/7 | - | 1 |
| 8-30657063-T-C | c.311A>G | p.K104R | Missense | 2/7 | - | 1 |
| 8-30657070-C-T | c.304G>A | p.A102T | Missense | 2/7 | - | 1 |
| 8-30657077-A-C | c.297T>G | p.L99= | Synonymous | 2/7 | - | 1 |
| 8-30657077-A-G | c.297T>C | p.L99= | Synonymous | 2/7 | - | 1 |
| 8-30657077-A-T | c.297T>A | p.L99= | Synonymous | 2/7 | - | 1 |
| 8-30657081-GT-CC | c.292_293delinsGG | p.T98G | Missense | 2/7 | - | 2 |
| 8-30657089-C-A | c.285G>T | p.E95D | Missense | 2/7 | - | 3 |
| 8-30657089-C-G | c.285G>C | p.E95D | Missense | 2/7 | - | 5 |
| 8-30657104-TC-GT | c.269_270delinsAC | p.G90D | Missense | 2/7 | - | 1 |
| 8-30657106-C-A | c.268G>T | p.G90* | Nonsense | 2/7 | - | 3 |
| 8-30657110-G-C | c.264C>G | p.D88E | Missense | 2/7 | - | 1 |
| 8-30657110-G-T | c.264C>A | p.D88E | Missense | 2/7 | - | 1 |
| 8-30657123-C-A | c.251G>T | p.G84V | Missense | 2/7 | - | 1 |
| 8-30657123-CC-AA | c.250_251delinsTT | p.G84F | Missense | 2/7 | - | 1 |
| 8-30657124-C-A | c.250G>T | p.G84C | Missense | 2/7 | - | 1 |
| 8-30657137-G-A | c.237C>T | p.N79= | Synonymous | 2/7 | - | 1 |
| 8-30657142-T-C | c.232A>G | p.T78A | Missense | 2/7 | - | 1 |
| 8-30657145-C-A | c.229G>T | p.D77Y | Missense | 2/7 | - | 8 |
| 8-30657146-C-A | c.228G>T | p.P76= | Synonymous | 2/7 | - | 1 |
| 8-30657146-C-G | c.228G>C | p.P76= | Synonymous | 2/7 | - | 1 |
| 8-30657146-C-T | c.228G>A | p.P76= | Synonymous | 2/7 | - | 2 |
| 8-30657147-G-A | c.227C>T | p.P76L | Missense | 2/7 | - | 1 |
| 8-30657148-G-A | c.226C>T | p.P76S | Missense | 2/7 | - | 2 |
| 8-30657164-TCT-ACA | c.208_210delinsTGT | p.R70C | Missense | 2/7 | - | 1 |
| 8-30657164-TCT-ATG | c.208_210delinsCAT | p.R70H | Missense | 2/7 | - | 1 |
| 8-30657164-TCT-CCA | c.208_210delinsTGG | p.R70W | Missense | 2/7 | - | 1 |
| 8-30657165-C-G | c.209G>C | p.R70T | Missense | 2/7 | - | 1 |
| 8-30657165-CT-TG | c.208_209delinsCA | p.R70Q | Missense | 2/7 | - | 1 |
| 8-30657175-C-T | c.199G>A | p.E67K | Missense | 2/7 | - | 1 |
| 8-30657177-A-G | c.197T>C | p.M66T | Missense | 2/7 | - | 1 |
| 8-30657182-A-G | c.192T>C | p.D64= | Synonymous | 2/7 | - | 1 |
| 8-30657184-C-T | c.190G>A | p.D64N | Missense | 2/7 | - | 1 |
| 8-30657185-A-G | c.189T>C | p.H63= | Synonymous | 2/7 | - | 1 |
| 8-30657196-C-T | c.178G>A | p.G60S | Missense | 2/7 | - | 1 |
| 8-30657200-CAC-GAT | c.172_174delinsATC | p.V58I | Missense | 2/7 | - | 1 |
| 8-30657223-G-C | c.151C>G | p.P51A | Missense | 2/7 | - | 1 |
| 8-30657224-G-A | c.150C>T | p.C50= | Synonymous | 2/7 | - | 1 |
| 8-30657228-C-T | c.146G>A | p.R49H | Missense | 2/7 | - | 3 |
| 8-30657229-G-A | c.145C>T | p.R49C | Missense | 2/7 | - | 6 |
| 8-30657261-A-T | c.113T>A | p.I38N | Missense | 2/7 | - | 1 |
| 8-30657262-T-C | c.112A>G | p.I38V | Missense | 2/7 | - | 1 |
| 8-30657266-C-T | c.108G>A | p.K36= | Synonymous | 2/7 | - | 1 |
| 8-30664622-C-G | c.102+5214G>C | - | IntronicSNV | - | 1/6 | 1 |
| 8-30664656-C-G | c.102+5180G>C | - | IntronicSNV | - | 1/6 | 1 |
| 8-30665289-C-A | c.102+4547G>T | - | IntronicSNV | - | 1/6 | 1 |
| 8-30665289-C-G | c.102+4547G>C | - | IntronicSNV | - | 1/6 | 1 |
| 8-30667932-G-A | c.102+1904C>T | - | IntronicSNV | - | 1/6 | 1 |
| 8-30669751-AGGGGCGGACGGGACCGGGGCGGGCAGGAAAGCGGCGGCCCGTCCCAGCCCCGCGCTCCC-A | c.102+26_102+84del | - | IntronicDeletion | - | 1/6 | 1 |
| 8-30669767-G-A | c.102+69C>T | - | IntronicSNV | - | 1/6 | 1 |
| 8-30669799-C-G | c.102+37G>C | - | IntronicSNV | - | 1/6 | 1 |
| 8-30669834-A-G | c.102+2T>C | - | IntronicSNV | - | 1/6 | 1 |
| 8-30669849-G-A | c.89C>T | p.T30M | Missense | 1/7 | - | 1 |
| 8-30669850-T-C | c.88A>G | p.T30A | Missense | 1/7 | - | 1 |
| 8-30669854-C-T | c.84G>A | p.V28= | Synonymous | 1/7 | - | 1 |
| 8-30669865-C-G | c.73G>C | p.E25Q | Missense | 1/7 | - | 5 |
| 8-30669871-G-A | c.67C>T | p.L23= | Synonymous | 1/7 | - | 1 |
| 8-30669875-C-T | c.63G>A | p.K21= | Synonymous | 1/7 | - | 1 |
| 8-30669883-C-A | c.55G>T | p.E19* | Nonsense | 1/7 | - | 1 |
| 8-30669890-C-A | c.48G>T | p.Q16H | Missense | 1/7 | - | 1 |
| 8-30669896-G-C | c.42C>G | p.V14= | Synonymous | 1/7 | - | 1 |
| 8-30669899-C-T | c.39G>A | p.W13* | Nonsense | 1/7 | - | 2 |
| 8-30669897-A-AC | c.40dup | p.V14Gfs*8 | Frameshift | 1/7 | - | 1 |
| 8-30669900-C-T | c.38G>A | p.W13* | Nonsense | 1/7 | - | 1 |
| 8-30669903-T-A | c.35A>T | p.Q12L | Missense | 1/7 | - | 1 |
| 8-30669904-G-C | c.34C>G | p.Q12E | Missense | 1/7 | - | 1 |
| 8-30669908-C-T | c.30G>A | p.L10= | Synonymous | 1/7 | - | 1 |
| 8-30669918-G-C | c.20C>G | p.T7S | Missense | 1/7 | - | 1 |
| 8-30669919-T-A | c.19A>T | p.T7S | Missense | 1/7 | - | 1 |
| 8-30669923-C-A | c.15G>T | p.A5= | Synonymous | 1/7 | - | 1 |
| 8-30669923-C-G | c.15G>C | p.A5= | Synonymous | 1/7 | - | 1 |
| 8-30669923-C-T | c.15G>A | p.A5= | Synonymous | 1/7 | - | 1 |
| 8-30669987-T-C | c.-50A>G | - | 5-UTRSNV | 1/7 | - | 1 |
| 8-30669999-A-C | c.-62T>G | - | 5-UTRSNV | 1/7 | - | 1 |
| 8-30670003-G-C | c.-66C>G | - | 5-UTRSNV | 1/7 | - | 1 |
| 8-30670163-G-A | c.-226C>T | - | 5-UTRSNV | 1/7 | - | 5 |
| 8-30670163-G-C | c.-226C>G | - | 5-UTRSNV | 1/7 | - | 5 |
| 8-30670163-G-T | c.-226C>A | - | 5-UTRSNV | 1/7 | - | 5 |