| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 7-94539227-C-CT | c.-217+19_-217+20insT | - | 5-UTRInsertion | - | 1/19 | 1 |
| 7-94539275-A-C | c.-151A>C | - | 5-UTRSNV | 2/20 | - | 1 |
| 7-94539432-A-T | c.7A>T | p.K3* | Nonsense | 2/20 | - | 2 |
| 7-94539439-A-G | c.14A>G | p.E5G | Missense | 2/20 | - | 1 |
| 7-94539438-GAGTCTTCAGGTGAACGAACCACTCTCAGAAGTGCCTCTCCTCACAGGA-G | c.15_62del | p.E5_N21delinsD | MultiAAMissense | 2/20 | - | 1 |
| 7-94539441-T-C | c.16T>C | p.S6P | Missense | 2/20 | - | 1 |
| 7-94539442-C-T | c.17C>T | p.S6F | Missense | 2/20 | - | 1 |
| 7-94539445-C-T | c.20C>T | p.S7L | Missense | 2/20 | - | 1 |
| 7-94539447-GGT-TGG | c.22_24delinsTGG | p.G8W | Missense | 2/20 | - | 1 |
| 7-94539450-TGA-T | c.25_26del | p.E9Tfs*17 | Frameshift | 2/20 | - | 1 |
| 7-94539453-C-T | c.28C>T | p.R10* | Nonsense | 2/20 | - | 2 |
| 7-94539454-G-A | c.29G>A | p.R10Q | Missense | 2/20 | - | 2 |
| 7-94539456-A-G | c.31A>G | p.T11A | Missense | 2/20 | - | 2 |
| 7-94539459-A-C | c.34A>C | p.T12P | Missense | 2/20 | - | 1 |
| 7-94539462-C-A | c.37C>A | p.L13I | Missense | 2/20 | - | 1 |
| 7-94539464-C-A | c.39C>A | p.L13= | Synonymous | 2/20 | - | 1 |
| 7-94539464-C-G | c.39C>G | p.L13= | Synonymous | 2/20 | - | 1 |
| 7-94539464-C-T | c.39C>T | p.L13= | Synonymous | 2/20 | - | 1 |
| 7-94539465-A-T | c.40A>T | p.R14* | Nonsense | 2/20 | - | 1 |
| 7-94539466-G-A | c.41G>A | p.R14K | Missense | 2/20 | - | 1 |
| 7-94539471-G-A | c.46G>A | p.A16T | Missense | 2/20 | - | 1 |
| 7-94539471-GCC-TAA | c.46_48delinsTAA | p.A16* | Nonsense | 2/20 | - | 1 |
| 7-94539471-GC-TA | c.46_47delinsTA | p.A16Y | Missense | 2/20 | - | 2 |
| 7-94539472-C-T | c.47C>T | p.A16V | Missense | 2/20 | - | 1 |
| 7-94539473-C-A | c.48C>A | p.A16= | Synonymous | 2/20 | - | 1 |
| 7-94539473-C-G | c.48C>G | p.A16= | Synonymous | 2/20 | - | 1 |
| 7-94539473-C-T | c.48C>T | p.A16= | Synonymous | 2/20 | - | 1 |
| 7-94539474-T-C | c.49T>C | p.S17P | Missense | 2/20 | - | 2 |
| 7-94539480-CAC-TAA | c.55_57delinsTAA | p.H19* | Nonsense | 2/20 | - | 1 |
| 7-94539483-A-G | c.58A>G | p.R20G | Missense | 2/20 | - | 1 |
| 7-94539483-AGG-CAT | c.58_60delinsCAT | p.R20H | Missense | 2/20 | - | 1 |
| 7-94539484-G-A | c.59G>A | p.R20K | Missense | 2/20 | - | 1 |
| 7-94539485-G-A | c.60G>A | p.R20= | Synonymous | 2/20 | - | 1 |
| 7-94539489-G-A | c.64G>A | p.A22T | Missense | 2/20 | - | 1 |
| 7-94539489-GC-TA | c.64_65delinsTA | p.A22* | Nonsense | 2/20 | - | 1 |
| 7-94539492-T-C | c.67T>C | p.Y23H | Missense | 2/20 | - | 1 |
| 7-94539493-A-G | c.68A>G | p.Y23C | Missense | 2/20 | - | 1 |
| 7-94539495-C-T | c.70C>T | p.R24* | Nonsense | 2/20 | - | 2 |
| 7-94539496-G-A | c.71G>A | p.R24Q | Missense | 2/20 | - | 11 |
| 7-94539496-G-T | c.71G>T | p.R24L | Missense | 2/20 | - | 1 |
| 7-94539507-C-T | c.82C>T | p.Q28* | Nonsense | 2/20 | - | 1 |
| 7-94539508-A-T | c.83A>T | p.Q28L | Missense | 2/20 | - | 1 |
| 7-94539510-GCA-AAC | c.85_87delinsAAC | p.A29N | Missense | 2/20 | - | 1 |
| 7-94539510-GC-CT | c.85_86delinsCT | p.A29L | Missense | 2/20 | - | 2 |
| 7-94539511-C-A | c.86C>A | p.A29E | Missense | 2/20 | - | 2 |
| 7-94539511-CA-AC | c.86_87delinsAC | p.A29D | Missense | 2/20 | - | 3 |
| 7-94539516-A-C | c.91A>C | p.K31Q | Missense | 2/20 | - | 1 |
| 7-94539520-G-A | c.95G>A | p.S32N | Missense | 2/20 | - | 1 |
| 7-94539523-C-T | c.98C>T | p.T33I | Missense | 2/20 | - | 1 |
| 7-94539528-G-A | c.103G>A | p.D35N | Missense | 2/20 | - | 1 |
| 7-94539531-A-G | c.106A>G | p.K36E | Missense | 2/20 | - | 1 |
| 7-94539536-C-A | c.111C>A | p.P37= | Synonymous | 2/20 | - | 2 |
| 7-94539536-C-G | c.111C>G | p.P37= | Synonymous | 2/20 | - | 2 |
| 7-94539536-C-T | c.111C>T | p.P37= | Synonymous | 2/20 | - | 6 |
| 7-94539538-A-C | c.113A>C | p.K38T | Missense | 2/20 | - | 1 |
| 7-94539539-G-A | c.114G>A | p.K38= | Synonymous | 2/20 | - | 2 |
| 7-94539539-G-T | c.114G>T | p.K38N | Missense | 2/20 | - | 1 |
| 7-94539541-C-A | c.116C>A | p.S39* | Nonsense | 2/20 | - | 1 |
| 7-94539541-C-G | c.116C>G | p.S39* | Nonsense | 2/20 | - | 1 |
| 7-94539541-C-T | c.116C>T | p.S39L | Missense | 2/20 | - | 1 |
| 7-94539548-G-A | c.123G>A | p.G41= | Synonymous | 2/20 | - | 1 |
| 7-94539545-T-TG | c.124dup | p.E42Gfs*8 | Frameshift | 2/20 | - | 1 |
| 7-94539550-A-T | c.125A>T | p.E42V | Missense | 2/20 | - | 2 |
| 7-94539551-A-G | c.126A>G | p.E42= | Synonymous | 2/20 | - | 1 |
| 7-94539554-A-G | c.129A>G | p.Q43= | Synonymous | 2/20 | - | 1 |
| 7-94539557-A-C | c.132A>C | p.K44N | Missense | 2/20 | - | 1 |
| 7-94539557-A-T | c.132A>T | p.K44N | Missense | 2/20 | - | 1 |
| 7-94539560-A-G | c.135A>G | p.T45= | Synonymous | 2/20 | - | 1 |
| 7-94539567-G-A | c.142G>A | p.G48S | Missense | 2/20 | - | 2 |
| 7-94539568-G-A | c.143G>A | p.G48D | Missense | 2/20 | - | 1 |
| 7-94539570-G-T | c.145G>T | p.E49* | Nonsense | 2/20 | - | 1 |
| 7-94539571-A-C | c.146A>C | p.E49A | Missense | 2/20 | - | 1 |
| 7-94539571-A-G | c.146A>G | p.E49G | Missense | 2/20 | - | 1 |
| 7-94539572-G-A | c.147G>A | p.E49= | Synonymous | 2/20 | - | 2 |
| 7-94539577-C-T | c.152C>T | p.S51F | Missense | 2/20 | - | 1 |
| 7-94539579-C-T | c.154C>T | p.Q52* | Nonsense | 2/20 | - | 1 |
| 7-94539588-A-T | c.163A>T | p.R55W | Missense | 2/20 | - | 1 |
| 7-94539588-AG-A | c.168del | p.R57Gfs*44 | Frameshift | 2/20 | - | 2 |
| 7-94539593-G-GT | c.168_169insT | p.R57* | Nonsense | 2/20 | - | 1 |
| 7-94539594-A-G | c.169A>G | p.R57G | Missense | 2/20 | - | 1 |
| 7-94539594-GA-G | c.169del | p.R57Gfs*44 | Frameshift | 2/20 | - | 5 |
| 7-94539599-A-C | c.174A>C | p.K58N | Missense | 2/20 | - | 1 |
| 7-94539599-A-T | c.174A>T | p.K58N | Missense | 2/20 | - | 1 |
| 7-94539601-A-G | c.176A>G | p.Y59C | Missense | 2/20 | - | 1 |
| 7-94539604-G-C | c.179G>C | p.G60A | Missense | 2/20 | - | 2 |
| 7-94539606-T-C | c.181T>C | p.S61P | Missense | 2/20 | - | 1 |
| 7-94539607-C-T | c.182C>T | p.S61F | Missense | 2/20 | - | 1 |
| 7-94539611-T-C | c.186T>C | p.N62= | Synonymous | 2/20 | - | 2 |
| 7-94539612-G-A | c.187G>A | p.V63I | Missense | 2/20 | - | 1 |
| 7-94539614-C-A | c.189C>A | p.V63= | Synonymous | 2/20 | - | 1 |
| 7-94539617-C-A | c.192C>A | p.N64K | Missense | 2/20 | - | 1 |
| 7-94539617-C-T | c.192C>T | p.N64= | Synonymous | 2/20 | - | 2 |
| 7-94539619-G-T | c.194G>T | p.R65I | Missense | 2/20 | - | 3 |
| 7-94539619-G-GA | c.196dup | p.I66Nfs*2 | Frameshift | 2/20 | - | 1 |
| 7-94539623-T-A | c.198T>A | p.I66= | Synonymous | 2/20 | - | 1 |
| 7-94539623-T-C | c.198T>C | p.I66= | Synonymous | 2/20 | - | 1 |
| 7-94539624-A-G | c.199A>G | p.K67E | Missense | 2/20 | - | 1 |
| 7-94539625-A-G | c.200A>G | p.K67R | Missense | 2/20 | - | 1 |
| 7-94539625-A-T | c.200A>T | p.K67I | Missense | 2/20 | - | 1 |
| 7-94539623-T-TA | c.203dup | p.N68Kfs*48 | Frameshift | 2/20 | - | 1 |
| 7-94539629-C-T | c.204C>T | p.N68= | Synonymous | 2/20 | - | 1 |
| 7-94539635-T-C | c.210T>C | p.F70= | Synonymous | 2/20 | - | 1 |
| 7-94539638-G-A | c.213G>A | p.M71I | Missense | 2/20 | - | 1 |
| 7-94539638-G-C | c.213G>C | p.M71I | Missense | 2/20 | - | 1 |
| 7-94539638-G-T | c.213G>T | p.M71I | Missense | 2/20 | - | 1 |
| 7-94539639-C-G | c.214C>G | p.Q72E | Missense | 2/20 | - | 1 |
| 7-94539643-T-C | c.218T>C | p.M73T | Missense | 2/20 | - | 1 |
| 7-94539644-G-A | c.219G>A | p.M73I | Missense | 2/20 | - | 1 |
| 7-94539644-G-C | c.219G>C | p.M73I | Missense | 2/20 | - | 1 |
| 7-94539644-G-T | c.219G>T | p.M73I | Missense | 2/20 | - | 1 |
| 7-94539651-G-A | c.226G>A | p.E76K | Missense | 2/20 | - | 1 |
| 7-94539656-C-A | c.231C>A | p.P77= | Synonymous | 2/20 | - | 1 |
| 7-94539656-C-G | c.231C>G | p.P77= | Synonymous | 2/20 | - | 1 |
| 7-94539656-C-T | c.231C>T | p.P77= | Synonymous | 2/20 | - | 1 |
| 7-94539657-A-G | c.232A>G | p.N78D | Missense | 2/20 | - | 2 |
| 7-94539658-A-G | c.233A>G | p.N78S | Missense | 2/20 | - | 1 |
| 7-94539660-G-A | c.235G>A | p.E79K | Missense | 2/20 | - | 3 |
| 7-94539661-A-G | c.236A>G | p.E79G | Missense | 2/20 | - | 1 |
| 7-94539663-A-T | c.238A>T | p.N80Y | Missense | 2/20 | - | 1 |
| 7-94539666-G-A | c.241G>A | p.A81T | Missense | 2/20 | - | 1 |
| 7-94539670-C-G | c.245C>G | p.A82G | Missense | 2/20 | - | 1 |
| 7-94539672-G-A | c.247G>A | p.V83I | Missense | 2/20 | - | 1 |
| 7-94539678-G-T | c.253G>T | p.A85S | Missense | 2/20 | - | 2 |
| 7-94539679-C-T | c.254C>T | p.A85V | Missense | 2/20 | - | 2 |
| 7-94539683-A-C | c.258A>C | p.K86N | Missense | 2/20 | - | 1 |
| 7-94539683-A-T | c.258A>T | p.K86N | Missense | 2/20 | - | 2 |
| 7-94539686-A-AT | c.261_262insT | p.R88* | Nonsense | 2/20 | - | 1 |
| 7-94539688-G-A | c.263G>A | p.R88K | Missense | 2/20 | - | 1 |
| 7-94539691-G-A | c.266G>A | p.G89E | Missense | 2/20 | - | 2 |
| 7-94539687-A-AG | c.267dup | p.K90Efs*26 | Frameshift | 2/20 | - | 1 |
| 7-94539687-AG-A | c.267del | p.G91Vfs*10 | Frameshift | 2/20 | - | 1 |
| 7-94539692-G-A | c.267G>A | p.G89= | Synonymous | 2/20 | - | 2 |
| 7-94539692-G-GT | c.267_268insT | p.K90* | Nonsense | 2/20 | - | 2 |
| 7-94539695-AG-A | c.272del | p.G91Vfs*10 | Frameshift | 2/20 | - | 2 |
| 7-94539699-G-A | c.274G>A | p.G92R | Missense | 2/20 | - | 1 |
| 7-94539703-A-C | c.278A>C | p.H93P | Missense | 2/20 | - | 1 |
| 7-94539703-A-T | c.278A>T | p.H93L | Missense | 2/20 | - | 1 |
| 7-94539704-T-C | c.279T>C | p.H93= | Synonymous | 2/20 | - | 2 |
| 7-94539707-A-C | c.282A>C | p.S94= | Synonymous | 2/20 | - | 1 |
| 7-94539707-A-G | c.282A>G | p.S94= | Synonymous | 2/20 | - | 1 |
| 7-94539707-A-T | c.282A>T | p.S94= | Synonymous | 2/20 | - | 1 |
| 7-94539708-T-G | c.283T>G | p.S95A | Missense | 2/20 | - | 2 |
| 7-94539709-C-A | c.284C>A | p.S95Y | Missense | 2/20 | - | 1 |
| 7-94539710-T-A | c.285T>A | p.S95= | Synonymous | 2/20 | - | 3 |
| 7-94539715-A-C | c.290A>C | p.Q97P | Missense | 2/20 | - | 1 |
| 7-94539717-AGA-CAT | c.292_294delinsCAT | p.R98H | Missense | 2/20 | - | 1 |
| 7-94539721-G-A | c.296G>A | p.R99K | Missense | 2/20 | - | 1 |
| 7-94539725-G-A | c.300G>A | p.M100I | Missense | 2/20 | - | 2 |
| 7-94539725-G-C | c.300G>C | p.M100I | Missense | 2/20 | - | 2 |
| 7-94539725-G-T | c.300G>T | p.M100I | Missense | 2/20 | - | 2 |
| 7-94539728-G-C | c.303G>C | p.K101N | Missense | 2/20 | - | 1 |
| 7-94539728-G-T | c.303G>T | p.K101N | Missense | 2/20 | - | 1 |
| 7-94539730-C-A | c.305C>A | p.P102H | Missense | 2/20 | - | 2 |
| 7-94539730-C-T | c.305C>T | p.P102L | Missense | 2/20 | - | 1 |
| 7-94539735-G-T | c.310G>T | p.E104* | Nonsense | 2/20 | - | 4 |
| 7-94539738-TTTC-T | c.315_317del | p.F105del | InFrameDeletion | 2/20 | - | 1 |
| 7-94539741-C-G | c.316C>G | p.L106V | Missense | 2/20 | - | 1 |
| 7-94539741-C-T | c.316C>T | p.L106= | Synonymous | 2/20 | - | 1 |
| 7-94539748-A-G | c.323A>G | p.K108R | Missense | 2/20 | - | 1 |
| 7-94539744-G-GA | c.325dup | p.T109Nfs*7 | Frameshift | 2/20 | - | 1 |
| 7-94539751-C-G | c.326C>G | p.T109R | Missense | 2/20 | - | 1 |
| 7-94539753-G-C | c.328G>C | p.D110H | Missense | 2/20 | - | 1 |
| 7-94539755-T-C | c.330T>C | p.D110= | Synonymous | 2/20 | - | 1 |
| 7-94539757-G-A | c.332G>A | p.G111D | Missense | 2/20 | - | 1 |
| 7-94539760-C-G | c.335C>G | p.S112* | Nonsense | 2/20 | - | 1 |
| 7-94539762-G-A | c.337G>A | p.V113I | Missense | 2/20 | - | 1 |
| 7-94539768-A-G | c.343A>G | p.K115E | Missense | 2/20 | - | 1 |
| 7-94539767-TA-T | c.344del | p.K115Sfs*88 | Frameshift | 2/20 | - | 1 |
| 7-94539773-G-C | c.348G>C | p.L116F | Missense | 2/20 | - | 1 |
| 7-94539773-G-T | c.348G>T | p.L116F | Missense | 2/20 | - | 1 |
| 7-94539774-G-T | c.349G>T | p.E117* | Nonsense | 2/20 | - | 1 |
| 7-94539776-G-C | c.351G>C | p.E117D | Missense | 2/20 | - | 1 |
| 7-94539776-G-T | c.351G>T | p.E117D | Missense | 2/20 | - | 1 |
| 7-94539778-C-G | c.353C>G | p.S118C | Missense | 2/20 | - | 1 |
| 7-94539778-C-T | c.353C>T | p.S118F | Missense | 2/20 | - | 1 |
| 7-94539781-C-T | c.356C>T | p.S119F | Missense | 2/20 | - | 1 |
| 7-94539786-TC-AA | c.361_362delinsAA | p.S121N | Missense | 2/20 | - | 1 |
| 7-94539788-T-A | c.363T>A | p.S121= | Synonymous | 2/20 | - | 3 |
| 7-94539788-T-C | c.363T>C | p.S121= | Synonymous | 2/20 | - | 3 |
| 7-94539788-T-G | c.363T>G | p.S121= | Synonymous | 2/20 | - | 3 |
| 7-94539790-A-G | c.365A>G | p.E122G | Missense | 2/20 | - | 1 |
| 7-94539793-G-A | c.368G>A | p.R123Q | Missense | 2/20 | - | 3 |
| 7-94539793-G-T | c.368G>T | p.R123L | Missense | 2/20 | - | 1 |
| 7-94539795-A-G | c.370A>G | p.I124V | Missense | 2/20 | - | 1 |
| 7-94539796-T-C | c.371T>C | p.I124T | Missense | 2/20 | - | 1 |
| 7-94539801-AGA-TGT | c.376_378delinsTGT | p.R126C | Missense | 2/20 | - | 1 |
| 7-94539802-G-C | c.377G>C | p.R126T | Missense | 2/20 | - | 2 |
| 7-94539801-A-C | c.376A>C | p.R126= | Synonymous | 2/20 | - | 1 |
| 7-94539803-A-G | c.378A>G | p.R126= | Synonymous | 2/20 | - | 1 |
| 7-94539808-A-G | c.383A>G | p.D128G | Missense | 2/20 | - | 2 |
| 7-94539815-G-A | c.390G>A | p.M130I | Missense | 2/20 | - | 1 |
| 7-94539815-G-C | c.390G>C | p.M130I | Missense | 2/20 | - | 1 |
| 7-94539815-G-T | c.390G>T | p.M130I | Missense | 2/20 | - | 1 |
| 7-94539816-T-C | c.391T>C | p.Y131H | Missense | 2/20 | - | 1 |
| 7-94539818-C-T | c.393C>T | p.Y131= | Synonymous | 2/20 | - | 1 |
| 7-94539822-G-T | c.397G>T | p.G133C | Missense | 2/20 | - | 2 |
| 7-94539823-G-A | c.398G>A | p.G133D | Missense | 2/20 | - | 1 |
| 7-94539828-T-G | c.403T>G | p.S135A | Missense | 2/20 | - | 1 |
| 7-94539830-A-C | c.405A>C | p.S135= | Synonymous | 2/20 | - | 1 |
| 7-94539830-A-G | c.405A>G | p.S135= | Synonymous | 2/20 | - | 2 |
| 7-94539830-A-T | c.405A>T | p.S135= | Synonymous | 2/20 | - | 1 |
| 7-94539834-T-G | c.409T>G | p.S137A | Missense | 2/20 | - | 1 |
| 7-94539835-C-A | c.410C>A | p.S137Y | Missense | 2/20 | - | 2 |
| 7-94539838-A-G | c.413A>G | p.K138R | Missense | 2/20 | - | 1 |
| 7-94539840-T-A | c.415T>A | p.F139I | Missense | 2/20 | - | 1 |
| 7-94539852-C-G | c.427C>G | p.R143G | Missense | 2/20 | - | 1 |
| 7-94539852-CGA-TGG | c.427_429delinsTGG | p.R143W | Missense | 2/20 | - | 1 |
| 7-94539852-C-T | c.427C>T | p.R143* | Nonsense | 2/20 | - | 2 |
| 7-94539853-G-A | c.428G>A | p.R143Q | Missense | 2/20 | - | 5 |
| 7-94539857-G-T | c.432G>T | p.K144N | Missense | 2/20 | - | 1 |
| 7-94539861-T-C | c.436T>C | p.F146L | Missense | 2/20 | - | 1 |
| 7-94539879-G-A | c.454G>A | p.E152K | Missense | 2/20 | - | 1 |
| 7-94539879-GA-TC | c.454_455inv | p.E152S | Missense | 2/20 | - | 1 |
| 7-94539881-A-T | c.456A>T | p.E152D | Missense | 2/20 | - | 1 |
| 7-94539882-T-C | c.457T>C | p.S153P | Missense | 2/20 | - | 1 |
| 7-94539883-CA-GT | c.458_459delinsGT | p.S153C | Missense | 2/20 | - | 1 |
| 7-94539884-A-C | c.459A>C | p.S153= | Synonymous | 2/20 | - | 1 |
| 7-94539884-A-G | c.459A>G | p.S153= | Synonymous | 2/20 | - | 1 |
| 7-94539884-A-T | c.459A>T | p.S153= | Synonymous | 2/20 | - | 1 |
| 7-94539890-G-A | c.465G>A | p.Q155= | Synonymous | 2/20 | - | 1 |
| 7-94539897-CG-AC | c.472_473delinsAC | p.R158T | Missense | 2/20 | - | 2 |
| 7-94539897-C-T | c.472C>T | p.R158C | Missense | 2/20 | - | 1 |
| 7-94539898-G-A | c.473G>A | p.R158H | Missense | 2/20 | - | 1 |
| 7-94539898-G-T | c.473G>T | p.R158L | Missense | 2/20 | - | 2 |
| 7-94539902-T-G | c.477T>G | p.Y159* | Nonsense | 2/20 | - | 1 |
| 7-94539903-T-C | c.478T>C | p.S160P | Missense | 2/20 | - | 4 |
| 7-94539917-G-C | c.492G>C | p.E164D | Missense | 2/20 | - | 1 |
| 7-94539921-G-A | c.496G>A | p.A166T | Missense | 2/20 | - | 1 |
| 7-94539922-C-G | c.497C>G | p.A166G | Missense | 2/20 | - | 1 |
| 7-94539924-G-A | c.499G>A | p.G167R | Missense | 2/20 | - | 4 |
| 7-94539929-G-A | c.504G>A | p.G168= | Synonymous | 2/20 | - | 2 |
| 7-94539933-G-A | c.508G>A | p.E170K | Missense | 2/20 | - | 2 |
| 7-94539935-A-T | c.510A>T | p.E170D | Missense | 2/20 | - | 1 |
| 7-94539939-C-T | c.514C>T | p.Q172* | Nonsense | 2/20 | - | 1 |
| 7-94539944-T-A | c.519T>A | p.D173E | Missense | 2/20 | - | 1 |
| 7-94539944-T-G | c.519T>G | p.D173E | Missense | 2/20 | - | 1 |
| 7-94539948-T-C | c.523T>C | p.W175R | Missense | 2/20 | - | 1 |
| 7-94539949-G-A | c.524G>A | p.W175* | Nonsense | 2/20 | - | 4 |
| 7-94539950-G-A | c.525G>A | p.W175* | Nonsense | 2/20 | - | 4 |
| 7-94539956-T-A | c.531T>A | p.G177= | Synonymous | 2/20 | - | 1 |
| 7-94539956-T-C | c.531T>C | p.G177= | Synonymous | 2/20 | - | 1 |
| 7-94539956-T-G | c.531T>G | p.G177= | Synonymous | 2/20 | - | 1 |
| 7-94539958-C-T | c.533C>T | p.S178F | Missense | 2/20 | - | 1 |
| 7-94539959-C-T | c.534C>T | p.S178= | Synonymous | 2/20 | - | 1 |
| 7-94539962-G-A | c.537G>A | p.K179= | Synonymous | 2/20 | - | 1 |
| 7-94539963-T-G | c.538T>G | p.S180A | Missense | 2/20 | - | 1 |
| 7-94539964-C-T | c.539C>T | p.S180F | Missense | 2/20 | - | 1 |
| 7-94539973-G-T | c.548G>T | p.G183V | Missense | 2/20 | - | 1 |
| 7-94539977-T-C | c.552T>C | p.S184= | Synonymous | 2/20 | - | 1 |
| 7-94539978-A-G | c.553A>G | p.T185A | Missense | 2/20 | - | 3 |
| 7-94539979-C-T | c.554C>T | p.T185I | Missense | 2/20 | - | 1 |
| 7-94539985-C-T | c.560C>T | p.S187F | Missense | 2/20 | - | 3 |
| 7-94539994-G-T | c.569G>T | p.S190I | Missense | 2/20 | - | 1 |
| 7-94539999-AGC-TGA | c.574_576delinsTGA | p.S192* | Nonsense | 2/20 | - | 1 |
| 7-94540001-C-T | c.576C>T | p.S192= | Synonymous | 2/20 | - | 1 |
| 7-94540002-T-A | c.577T>A | p.S193T | Missense | 2/20 | - | 1 |
| 7-94540002-TC-CT | c.577_578delinsCT | p.S193L | Missense | 2/20 | - | 2 |
| 7-94540006-G-A | c.581G>A | p.R194Q | Missense | 2/20 | - | 3 |
| 7-94540006-GA-AT | c.581_582delinsAT | p.R194H | Missense | 2/20 | - | 1 |
| 7-94540010-T-A | c.585T>A | p.T195= | Synonymous | 2/20 | - | 1 |
| 7-94540010-T-C | c.585T>C | p.T195= | Synonymous | 2/20 | - | 2 |
| 7-94540010-T-G | c.585T>G | p.T195= | Synonymous | 2/20 | - | 1 |
| 7-94540021-C-T | c.596C>T | p.S199F | Missense | 2/20 | - | 2 |
| 7-94540028-T-A | c.603T>A | p.T201= | Synonymous | 2/20 | - | 1 |
| 7-94540028-T-C | c.603T>C | p.T201= | Synonymous | 2/20 | - | 1 |
| 7-94540028-T-G | c.603T>G | p.T201= | Synonymous | 2/20 | - | 1 |
| 7-94540032-A-T | c.607A>T | p.S203C | Missense | 2/20 | - | 1 |
| 7-94540035-C-A | c.610C>A | p.Q204K | Missense | 2/20 | - | 1 |
| 7-94540038-C-T | c.613C>T | p.L205= | Synonymous | 2/20 | - | 1 |
| 7-94540045-C-T | c.620C>T | p.A207V | Missense | 2/20 | - | 1 |
| 7-94540051-T-C | c.626T>C | p.F209S | Missense | 2/20 | - | 1 |
| 7-94540055-G-C | c.630G>C | p.E210D | Missense | 2/20 | - | 1 |
| 7-94540055-G-T | c.630G>T | p.E210D | Missense | 2/20 | - | 1 |
| 7-94540057-A-T | c.632A>T | p.N211I | Missense | 2/20 | - | 1 |
| 7-94540062-G-A | c.637G>A | p.D213N | Missense | 2/20 | - | 1 |
| 7-94540062-G-T | c.637G>T | p.D213Y | Missense | 2/20 | - | 1 |
| 7-94540066-C-A | c.641C>A | p.S214Y | Missense | 2/20 | - | 2 |
| 7-94540068-C-A | c.643C>A | p.P215T | Missense | 2/20 | - | 8 |
| 7-94540068-C-T | c.643C>T | p.P215S | Missense | 2/20 | - | 1 |
| 7-94540070-C-A | c.645C>A | p.P215= | Synonymous | 2/20 | - | 1 |
| 7-94540070-C-G | c.645C>G | p.P215= | Synonymous | 2/20 | - | 1 |
| 7-94540070-C-T | c.645C>T | p.P215= | Synonymous | 2/20 | - | 2 |
| 7-94540073-T-C | c.648T>C | p.S216= | Synonymous | 2/20 | - | 1 |
| 7-94540075-C-T | c.650C>T | p.A217V | Missense | 2/20 | - | 1 |
| 7-94540078-T-A | c.653T>A | p.I218N | Missense | 2/20 | - | 1 |
| 7-94540086-G-T | c.661G>T | p.E221* | Nonsense | 2/20 | - | 1 |
| 7-94540088-G-A | c.663G>A | p.E221= | Synonymous | 2/20 | - | 1 |
| 7-94540095-G-C | c.670G>C | p.E224Q | Missense | 2/20 | - | 1 |
| 7-94540100-C-A | c.675C>A | p.N225K | Missense | 2/20 | - | 1 |
| 7-94540100-C-G | c.675C>G | p.N225K | Missense | 2/20 | - | 1 |
| 7-94540101-A-G | c.676A>G | p.N226D | Missense | 2/20 | - | 1 |
| 7-94540102-A-G | c.677A>G | p.N226S | Missense | 2/20 | - | 1 |
| 7-94540105-A-G | c.680A>G | p.E227G | Missense | 2/20 | - | 1 |
| 7-94540111-C-A | c.686C>A | p.S229* | Nonsense | 2/20 | - | 1 |
| 7-94540111-C-G | c.686C>G | p.S229* | Nonsense | 2/20 | - | 3 |
| 7-94540113-GTG-ATC | c.688_690delinsATC | p.V230I | Missense | 2/20 | - | 1 |
| 7-94540117-C-T | c.692C>T | p.T231I | Missense | 2/20 | - | 1 |
| 7-94540121-G-T | c.696G>T | p.G232= | Synonymous | 2/20 | - | 2 |
| 7-94540123-AT-A | c.700del | p.Y234Ifs*3 | Frameshift | 2/20 | - | 1 |
| 7-94540131-T-C | c.706T>C | p.L236= | Synonymous | 2/20 | - | 1 |
| 7-94540133-G-A | c.708G>A | p.L236= | Synonymous | 2/20 | - | 1 |
| 7-94540144-C-A | c.719C>A | p.S240Y | Missense | 2/20 | - | 1 |
| 7-94540145-T-A | c.720T>A | p.S240= | Synonymous | 2/20 | - | 1 |
| 7-94540145-T-C | c.720T>C | p.S240= | Synonymous | 2/20 | - | 1 |
| 7-94540145-T-G | c.720T>G | p.S240= | Synonymous | 2/20 | - | 2 |
| 7-94540152-G-A | c.727G>A | p.V243I | Missense | 2/20 | - | 1 |
| 7-94540161-C-G | c.736C>G | p.L246V | Missense | 2/20 | - | 1 |
| 7-94540164-G-C | c.739G>C | p.D247H | Missense | 2/20 | - | 1 |
| 7-94540168-C-T | c.743C>T | p.T248I | Missense | 2/20 | - | 1 |
| 7-94540173-G-A | c.748G>A | p.G250S | Missense | 2/20 | - | 1 |
| 7-94540173-G-T | c.748G>T | p.G250C | Missense | 2/20 | - | 1 |
| 7-94540174-G-T | c.749G>T | p.G250V | Missense | 2/20 | - | 1 |
| 7-94540180-T-G | c.755T>G | p.L252R | Missense | 2/20 | - | 1 |
| 7-94540184-G-A | c.759G>A | p.K253= | Synonymous | 2/20 | - | 3 |
| 7-94540185-G-A | c.760G>A | p.D254N | Missense | 2/20 | - | 7 |
| 7-94540195-C-T | c.770C>T | p.S257F | Missense | 2/20 | - | 4 |
| 7-94540196-C-A | c.771C>A | p.S257= | Synonymous | 2/20 | - | 1 |
| 7-94540196-C-G | c.771C>G | p.S257= | Synonymous | 2/20 | - | 1 |
| 7-94540196-C-T | c.771C>T | p.S257= | Synonymous | 2/20 | - | 1 |
| 7-94540203-C-T | c.778C>T | p.P260S | Missense | 2/20 | - | 4 |
| 7-94540204-C-G | c.779C>G | p.P260R | Missense | 2/20 | - | 1 |
| 7-94540210-A-G | c.785A>G | p.N262S | Missense | 2/20 | - | 1 |
| 7-94540212-A-G | c.787A>G | p.K263E | Missense | 2/20 | - | 1 |
| 7-94540215-CG-AA | c.790_791delinsAA | p.R264K | Missense | 2/20 | - | 1 |
| 7-94540215-CGAGGTGTT-C | c.793_800del | p.G265Yfs*8 | Frameshift | 2/20 | - | 2 |
| 7-94540221-G-C | c.796G>C | p.V266L | Missense | 2/20 | - | 1 |
| 7-94540221-G-T | c.796G>T | p.V266F | Missense | 2/20 | - | 1 |
| 7-94540228-C-T | c.803C>T | p.T268I | Missense | 2/20 | - | 1 |
| 7-94540230-G-T | c.805G>T | p.E269* | Nonsense | 2/20 | - | 1 |
| 7-94540233-G-T | c.808G>T | p.D270Y | Missense | 2/20 | - | 1 |
| 7-94540236-G-A | c.811G>A | p.A271T | Missense | 2/20 | - | 1 |
| 7-94540239-C-G | c.814C>G | p.H272D | Missense | 2/20 | - | 1 |
| 7-94540239-C-T | c.814C>T | p.H272Y | Missense | 2/20 | - | 3 |
| 7-94540246-G-T | c.821G>T | p.S274I | Missense | 2/20 | - | 1 |
| 7-94540252-C-A | c.827C>A | p.A276E | Missense | 2/20 | - | 1 |
| 7-94540254-A-C | c.829A>C | p.T277P | Missense | 2/20 | - | 1 |
| 7-94540265-A-C | c.840A>C | p.P280= | Synonymous | 2/20 | - | 1 |
| 7-94540265-A-G | c.840A>G | p.P280= | Synonymous | 2/20 | - | 1 |
| 7-94540265-A-T | c.840A>T | p.P280= | Synonymous | 2/20 | - | 1 |
| 7-94540269-G-C | c.844G>C | p.V282L | Missense | 2/20 | - | 3 |
| 7-94540269-G-T | c.844G>T | p.V282L | Missense | 2/20 | - | 2 |
| 7-94540270-T-G | c.845T>G | p.V282G | Missense | 2/20 | - | 1 |
| 7-94540272-G-A | c.847G>A | p.A283T | Missense | 2/20 | - | 1 |
| 7-94540273-C-T | c.848C>T | p.A283V | Missense | 2/20 | - | 1 |
| 7-94540281-A-C | c.856A>C | p.S286R | Missense | 2/20 | - | 1 |
| 7-94540283-T-A | c.858T>A | p.S286R | Missense | 2/20 | - | 1 |
| 7-94540283-T-C | c.858T>C | p.S286= | Synonymous | 2/20 | - | 3 |
| 7-94540283-T-G | c.858T>G | p.S286R | Missense | 2/20 | - | 1 |
| 7-94540288-C-T | c.863C>T | p.S288F | Missense | 2/20 | - | 2 |
| 7-94540292-A-G | c.867A>G | p.L289= | Synonymous | 2/20 | - | 1 |
| 7-94540293-G-T | c.868G>T | p.A290S | Missense | 2/20 | - | 1 |
| 7-94540297-C-T | c.872C>T | p.S291L | Missense | 2/20 | - | 2 |
| 7-94540298-G-A | c.873G>A | p.S291= | Synonymous | 2/20 | - | 4 |
| 7-94540298-G-C | c.873G>C | p.S291= | Synonymous | 2/20 | - | 3 |
| 7-94540298-G-T | c.873G>T | p.S291= | Synonymous | 2/20 | - | 2 |
| 7-94540301-A-C | c.876A>C | p.I292= | Synonymous | 2/20 | - | 1 |
| 7-94540301-A-T | c.876A>T | p.I292= | Synonymous | 2/20 | - | 1 |
| 7-94540305-G-A | c.880G>A | p.G294S | Missense | 2/20 | - | 2 |
| 7-94540311-G-A | c.886G>A | p.E296K | Missense | 2/20 | - | 2 |
| 7-94540323-AG-CT | c.898_899inv | p.S300L | Missense | 2/20 | - | 1 |
| 7-94540329-G-C | c.904G>C | p.E302Q | Missense | 2/20 | - | 1 |
| 7-94540329-G-T | c.904G>T | p.E302* | Nonsense | 2/20 | - | 1 |
| 7-94540331-A-T | c.906A>T | p.E302D | Missense | 2/20 | - | 1 |
| 7-94540333-C-T | c.908C>T | p.P303L | Missense | 2/20 | - | 2 |
| 7-94540341-T-C | c.916T>C | p.S306P | Missense | 2/20 | - | 7 |
| 7-94540342-C-G | c.917C>G | p.S306C | Missense | 2/20 | - | 1 |
| 7-94540348-C-G | c.923C>G | p.S308C | Missense | 2/20 | - | 2 |
| 7-94540348-C-T | c.923C>T | p.S308F | Missense | 2/20 | - | 4 |
| 7-94540353-C-A | c.928C>A | p.Q310K | Missense | 2/20 | - | 1 |
| 7-94540353-C-T | c.928C>T | p.Q310* | Nonsense | 2/20 | - | 1 |
| 7-94540358-G-A | c.933G>A | p.Q311= | Synonymous | 2/20 | - | 1 |
| 7-94540359-A-C | c.934A>C | p.T312P | Missense | 2/20 | - | 1 |
| 7-94540363-C-T | c.938C>T | p.P313L | Missense | 2/20 | - | 1 |
| 7-94540364-C-CAAA | c.939_940insAAA | p.P313_D314insK | InFrameInsertion | 2/20 | - | 1 |
| 7-94540365-G-A | c.940G>A | p.D314N | Missense | 2/20 | - | 1 |
| 7-94540365-G-GTGCTGGGATT | c.940_941insTGCTGGGATT | p.D314Vfs*7 | Frameshift | 2/20 | - | 1 |
| 7-94540376-C-T | c.951C>T | p.D317= | Synonymous | 2/20 | - | 1 |
| 7-94540377-AA-GC | c.952_953delinsGC | p.K318A | Missense | 2/20 | - | 1 |
| 7-94540380-G-A | c.955G>A | p.D319N | Missense | 2/20 | - | 3 |
| 7-94540384-G-A | c.959G>A | p.G320D | Missense | 2/20 | - | 2 |
| 7-94540386-C-G | c.961C>G | p.P321A | Missense | 2/20 | - | 2 |
| 7-94540391-A-G | c.966A>G | p.E322= | Synonymous | 2/20 | - | 1 |
| 7-94540394-AC-A | c.971del | p.P324Lfs*21 | Frameshift | 2/20 | - | 1 |
| 7-94540403-T-A | c.978T>A | p.A326= | Synonymous | 2/20 | - | 1 |
| 7-94540403-T-C | c.978T>C | p.A326= | Synonymous | 2/20 | - | 1 |
| 7-94540403-T-G | c.978T>G | p.A326= | Synonymous | 2/20 | - | 1 |
| 7-94540408-G-T | c.983G>T | p.S328I | Missense | 2/20 | - | 2 |
| 7-94540416-A-G | c.991A>G | p.M331V | Missense | 2/20 | - | 17 |
| 7-94540426-C-T | c.1001C>T | p.S334F | Missense | 2/20 | - | 1 |
| 7-94540428-G-A | c.1003G>A | p.E335K | Missense | 2/20 | - | 3 |
| 7-94540431-A-T | c.1006A>T | p.I336F | Missense | 2/20 | - | 2 |
| 7-94540433-C-A | c.1008C>A | p.I336= | Synonymous | 2/20 | - | 2 |
| 7-94540433-C-T | c.1008C>T | p.I336= | Synonymous | 2/20 | - | 2 |
| 7-94540434-C-T | c.1009C>T | p.P337S | Missense | 2/20 | - | 1 |
| 7-94540435-C-T | c.1010C>T | p.P337L | Missense | 2/20 | - | 1 |
| 7-94540439-A-C | c.1014A>C | p.S338= | Synonymous | 2/20 | - | 1 |
| 7-94540439-A-G | c.1014A>G | p.S338= | Synonymous | 2/20 | - | 1 |
| 7-94540439-A-T | c.1014A>T | p.S338= | Synonymous | 2/20 | - | 1 |
| 7-94540440-C-T | c.1015C>T | p.P339S | Missense | 2/20 | - | 1 |
| 7-94540441-C-T | c.1016C>T | p.P339L | Missense | 2/20 | - | 1 |
| 7-94540449-C-T | c.1024C>T | p.Q342* | Nonsense | 2/20 | - | 1 |
| 7-94540452-C-G | c.1027C>G | p.L343V | Missense | 2/20 | - | 2 |
| 7-94540464-G-A | c.1039G>A | p.A347T | Missense | 2/20 | - | 1 |
| 7-94540465-C-A | c.1040C>A | p.A347D | Missense | 2/20 | - | 2 |
| 7-94540467-G-A | c.1042G>A | p.E348K | Missense | 2/20 | - | 1 |
| 7-94540470-G-A | c.1045G>A | p.A349T | Missense | 2/20 | - | 2 |
| 7-94540473-A-G | c.1048A>G | p.N350D | Missense | 2/20 | - | 4 |
| 7-94540478-G-T | c.1053G>T | p.L351F | Missense | 2/20 | - | 1 |
| 7-94540480-T-C | c.1055T>C | p.V352A | Missense | 2/20 | - | 2 |
| 7-94540483-G-A | c.1058G>A | p.G353E | Missense | 2/20 | - | 2 |
| 7-94540483-G-C | c.1058G>C | p.G353A | Missense | 2/20 | - | 1 |
| 7-94540482-GGAAGGGAGGCAGCAAAGCAACAGAGGAAAGAACTT-G | c.1059_1093del | p.E355Wfs*2 | Frameshift | 2/20 | - | 1 |
| 7-94540487-G-C | c.1062G>C | p.R354S | Missense | 2/20 | - | 1 |
| 7-94540487-G-T | c.1062G>T | p.R354S | Missense | 2/20 | - | 2 |
| 7-94540490-G-A | c.1065G>A | p.E355= | Synonymous | 2/20 | - | 1 |
| 7-94540490-G-C | c.1065G>C | p.E355D | Missense | 2/20 | - | 3 |
| 7-94540490-G-T | c.1065G>T | p.E355D | Missense | 2/20 | - | 2 |
| 7-94540491-G-A | c.1066G>A | p.A356T | Missense | 2/20 | - | 1 |
| 7-94540496-A-C | c.1071A>C | p.A357= | Synonymous | 2/20 | - | 1 |
| 7-94540496-A-G | c.1071A>G | p.A357= | Synonymous | 2/20 | - | 1 |
| 7-94540496-A-T | c.1071A>T | p.A357= | Synonymous | 2/20 | - | 1 |
| 7-94540499-G-C | c.1074G>C | p.K358N | Missense | 2/20 | - | 1 |
| 7-94540499-G-T | c.1074G>T | p.K358N | Missense | 2/20 | - | 1 |
| 7-94540505-G-A | c.1080G>A | p.Q360= | Synonymous | 2/20 | - | 2 |
| 7-94540507-G-A | c.1082G>A | p.R361K | Missense | 2/20 | - | 3 |
| 7-94540511-A-G | c.1086A>G | p.K362= | Synonymous | 2/20 | - | 2 |
| 7-94540512-G-A | c.1087G>A | p.E363K | Missense | 2/20 | - | 1 |
| 7-94540512-G-T | c.1087G>T | p.E363* | Nonsense | 2/20 | - | 3 |
| 7-94540515-C-G | c.1090C>G | p.L364V | Missense | 2/20 | - | 1 |
| 7-94540519-C-A | c.1094C>A | p.A365E | Missense | 2/20 | - | 1 |
| 7-94540525-G-GT | c.1101dup | p.D368* | Nonsense | 2/20 | - | 1 |
| 7-94540527-G-A | c.1102G>A | p.D368N | Missense | 2/20 | - | 14 |
| 7-94540528-A-G | c.1103A>G | p.D368G | Missense | 2/20 | - | 1 |
| 7-94540532-C-T | c.1107C>T | p.F369= | Synonymous | 2/20 | - | 1 |
| 7-94540534-C-T | c.1109C>T | p.T370I | Missense | 2/20 | - | 1 |
| 7-94540539-C-T | c.1114C>T | p.P372S | Missense | 2/20 | - | 3 |
| 7-94540540-C-T | c.1115C>T | p.P372L | Missense | 2/20 | - | 2 |
| 7-94540549-C-G | c.1124C>G | p.S375C | Missense | 2/20 | - | 1 |
| 7-94540556-C-T | c.1131C>T | p.S377= | Synonymous | 2/20 | - | 1 |
| 7-94540561-G-A | c.1136G>A | p.C379Y | Missense | 2/20 | - | 1 |
| 7-94540564-G-A | c.1139G>A | p.G380E | Missense | 2/20 | - | 3 |
| 7-94540569-G-T | c.1144G>T | p.E382* | Nonsense | 2/20 | - | 3 |
| 7-94540576-CT-AA | c.1151_1152delinsAA | p.P384Q | Missense | 2/20 | - | 1 |
| 7-94540577-T-A | c.1152T>A | p.P384= | Synonymous | 2/20 | - | 1 |
| 7-94540585-C-A | c.1160C>A | p.S387* | Nonsense | 2/20 | - | 1 |
| 7-94540585-C-G | c.1160C>G | p.S387* | Nonsense | 2/20 | - | 1 |
| 7-94540585-C-T | c.1160C>T | p.S387L | Missense | 2/20 | - | 3 |
| 7-94540596-G-C | c.1171G>C | p.D391H | Missense | 2/20 | - | 2 |
| 7-94540602-T-C | c.1177T>C | p.S393P | Missense | 2/20 | - | 1 |
| 7-94540608-G-A | c.1183G>A | p.V395M | Missense | 2/20 | - | 3 |
| 7-94540612-A-G | c.1187A>G | p.Y396C | Missense | 2/20 | - | 1 |
| 7-94540616-G-A | c.1191G>A | p.M397I | Missense | 2/20 | - | 2 |
| 7-94540616-G-C | c.1191G>C | p.M397I | Missense | 2/20 | - | 2 |
| 7-94540616-G-T | c.1191G>T | p.M397I | Missense | 2/20 | - | 3 |
| 7-94540617-C-A | c.1192C>A | p.H398N | Missense | 2/20 | - | 1 |
| 7-94540625-C-A | c.1200C>A | p.D400E | Missense | 2/20 | - | 1 |
| 7-94540630-A-T | c.1205A>T | p.N402I | Missense | 2/20 | - | 1 |
| 7-94540636-A-T | c.1211A>T | p.Y404F | Missense | 2/20 | - | 1 |
| 7-94540638-A-T | c.1213A>T | p.R405W | Missense | 2/20 | - | 3 |
| 7-94540643-G-A | c.1218G>A | p.V406= | Synonymous | 2/20 | - | 2 |
| 7-94540643-G-C | c.1218G>C | p.V406= | Synonymous | 2/20 | - | 1 |
| 7-94540643-G-T | c.1218G>T | p.V406= | Synonymous | 2/20 | - | 1 |
| 7-94540645-G-A | c.1220G>A | p.R407K | Missense | 2/20 | - | 1 |
| 7-94540649-C-T | c.1224C>T | p.S408= | Synonymous | 2/20 | - | 2 |
| 7-94540650-A-G | c.1225A>G | p.R409G | Missense | 2/20 | - | 1 |
| 7-94540651-G-A | c.1226G>A | p.R409K | Missense | 2/20 | - | 2 |
| 7-94540651-G-C | c.1226G>C | p.R409T | Missense | 2/20 | - | 7 |
| 7-94540658-T-A | c.1233T>A | p.N411K | Missense | 2/20 | - | 2 |
| 7-94540658-T-G | c.1233T>G | p.N411K | Missense | 2/20 | - | 1 |
| 7-94540662-G-A | c.1237G>A | p.D413N | Missense | 2/20 | - | 3 |
| 7-94540664-C-T | c.1239C>T | p.D413= | Synonymous | 2/20 | - | 2 |
| 7-94540666-G-A | c.1241G>A | p.W414* | Nonsense | 2/20 | - | 1 |
| 7-94540667-G-A | c.1242G>A | p.W414* | Nonsense | 2/20 | - | 1 |
| 7-94540665-TGG-T | c.1243_1244del | p.G415Rfs*5 | Frameshift | 2/20 | - | 1 |
| 7-94540669-G-C | c.1244G>C | p.G415A | Missense | 2/20 | - | 1 |
| 7-94540670-A-C | c.1245A>C | p.G415= | Synonymous | 2/20 | - | 1 |
| 7-94540670-A-G | c.1245A>G | p.G415= | Synonymous | 2/20 | - | 1 |
| 7-94540670-A-T | c.1245A>T | p.G415= | Synonymous | 2/20 | - | 1 |
| 7-94540675-C-G | c.1250C>G | p.T417R | Missense | 2/20 | - | 1 |
| 7-94540683-G-A | c.1258G>A | p.E420K | Missense | 2/20 | - | 1 |
| 7-94540686-C-G | c.1261C>G | p.Q421E | Missense | 2/20 | - | 1 |
| 7-94540689-G-A | c.1264G>A | p.D422N | Missense | 2/20 | - | 1 |
| 7-94540694-G-T | c.1269G>T | p.E423D | Missense | 2/20 | - | 1 |
| 7-94540695-G-T | c.1270G>T | p.E424* | Nonsense | 2/20 | - | 1 |
| 7-94540698-G-A | c.1273G>A | p.E425K | Missense | 2/20 | - | 4 |
| 7-94540701-G-A | c.1276G>A | p.D426N | Missense | 2/20 | - | 1 |
| 7-94540703-T-C | c.1278T>C | p.D426= | Synonymous | 2/20 | - | 1 |
| 7-94540709-T-A | c.1284T>A | p.D428E | Missense | 2/20 | - | 2 |
| 7-94540709-T-G | c.1284T>G | p.D428E | Missense | 2/20 | - | 6 |
| 7-94540710-G-A | c.1285G>A | p.E429K | Missense | 2/20 | - | 4 |
| 7-94540711-A-G | c.1286A>G | p.E429G | Missense | 2/20 | - | 1 |
| 7-94540712-G-C | c.1287G>C | p.E429D | Missense | 2/20 | - | 1 |
| 7-94540717-G-A | c.1292G>A | p.S431N | Missense | 2/20 | - | 1 |
| 7-94540721-C-A | c.1296C>A | p.Y432* | Nonsense | 2/20 | - | 1 |
| 7-94540721-C-G | c.1296C>G | p.Y432* | Nonsense | 2/20 | - | 1 |
| 7-94540729-C-T | c.1304C>T | p.P435L | Missense | 2/20 | - | 1 |
| 7-94540731-G-A | c.1306G>A | p.D436N | Missense | 2/20 | - | 1 |
| 7-94540733-T-C | c.1308T>C | p.D436= | Synonymous | 2/20 | - | 2 |
| 7-94540736-G-A | c.1311G>A | p.M437I | Missense | 2/20 | - | 1 |
| 7-94540737-G-A | c.1312G>A | p.E438K | Missense | 2/20 | - | 1 |
| 7-94540738-A-T | c.1313A>T | p.E438V | Missense | 2/20 | - | 2 |
| 7-94540744-C-T | c.1319C>T | p.S440L | Missense | 2/20 | - | 1 |
| 7-94540745-G-A | c.1320G>A | p.S440= | Synonymous | 2/20 | - | 2 |
| 7-94540745-G-C | c.1320G>C | p.S440= | Synonymous | 2/20 | - | 1 |
| 7-94540745-G-T | c.1320G>T | p.S440= | Synonymous | 2/20 | - | 1 |
| 7-94540755-G-A | c.1330G>A | p.G444R | Missense | 2/20 | - | 1 |
| 7-94540762-C-T | c.1337C>T | p.P446L | Missense | 2/20 | - | 3 |
| 7-94540764-G-A | c.1339G>A | p.E447K | Missense | 2/20 | - | 1 |
| 7-94540767-G-A | c.1342G>A | p.E448K | Missense | 2/20 | - | 1 |
| 7-94540770-G-A | c.1345G>A | p.E449K | Missense | 2/20 | - | 1 |
| 7-94540770-G-C | c.1345G>C | p.E449Q | Missense | 2/20 | - | 1 |
| 7-94540772-A-C | c.1347A>C | p.E449D | Missense | 2/20 | - | 3 |
| 7-94540772-A-T | c.1347A>T | p.E449D | Missense | 2/20 | - | 2 |
| 7-94540778-C-T | c.1353C>T | p.I451= | Synonymous | 2/20 | - | 1 |
| 7-94540779-C-T | c.1354C>T | p.P452S | Missense | 2/20 | - | 2 |
| 7-94540790-G-C | c.1365G>C | p.R455S | Missense | 2/20 | - | 1 |
| 7-94540790-G-T | c.1365G>T | p.R455S | Missense | 2/20 | - | 2 |
| 7-94540802-T-A | c.1377T>A | p.F459L | Missense | 2/20 | - | 1 |
| 7-94540808-T-G | c.1383T>G | p.S461R | Missense | 2/20 | - | 2 |
| 7-94540809-G-T | c.1384G>T | p.A462S | Missense | 2/20 | - | 1 |
| 7-94540811-T-C | c.1386T>C | p.A462= | Synonymous | 2/20 | - | 1 |
| 7-94540812-C-T | c.1387C>T | p.P463S | Missense | 2/20 | - | 3 |
| 7-94542176-T-C | c.1395+1356T>C | - | IntronicSNV | - | 2/19 | 2 |
| 7-94545130-G-A | c.1395+4310G>A | - | IntronicSNV | - | 2/19 | 1 |
| 7-94546888-T-TA | c.1395+6068_1395+6069insA | - | IntronicInsertion | - | 2/19 | 1 |
| 7-94552499-T-C | c.1395+11679T>C | - | IntronicSNV | - | 2/19 | 1 |
| 7-94552499-T-G | c.1395+11679T>G | - | IntronicSNV | - | 2/19 | 1 |
| 7-94558043-AT-A | c.1395+17232del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94560597-T-C | c.1395+19777T>C | - | IntronicSNV | - | 2/19 | 1 |
| 7-94565163-G-GA | c.1395+24344dup | - | IntronicInsertion | - | 2/19 | 1 |
| 7-94571395-G-GA | c.1395+30583dup | - | IntronicInsertion | - | 2/19 | 1 |
| 7-94572285-C-A | c.1395+31465C>A | - | IntronicSNV | - | 2/19 | 1 |
| 7-94575872-C-G | c.1395+35052C>G | - | IntronicSNV | - | 2/19 | 1 |
| 7-94584745-T-C | c.1395+43925T>C | - | IntronicSNV | - | 2/19 | 1 |
| 7-94584744-CT-C | c.1395+43933del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94588166-C-T | c.1395+47346C>T | - | IntronicSNV | - | 2/19 | 1 |
| 7-94595115-CT-C | c.1395+54305del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94596591-AT-A | c.1395+55780del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94597492-CT-C | c.1395+56682del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94597646-G-A | c.1395+56826G>A | - | IntronicSNV | - | 2/19 | 1 |
| 7-94600834-G-A | c.1395+60014G>A | - | IntronicSNV | - | 2/19 | 1 |
| 7-94601690-CAA-C | c.1395+60870_1395+60871del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94603175-G-A | c.1395+62355G>A | - | IntronicSNV | - | 2/19 | 1 |
| 7-94604907-AT-A | c.1395+64097del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94609218-AT-A | c.1395+68407del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94610555-AT-A | c.1395+69743del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94622702-T-A | c.1395+81882T>A | - | IntronicSNV | - | 2/19 | 1 |
| 7-94622702-T-G | c.1395+81882T>G | - | IntronicSNV | - | 2/19 | 1 |
| 7-94624684-AT-A | c.1395+83870del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94631617-T-C | c.1395+90797T>C | - | IntronicSNV | - | 2/19 | 1 |
| 7-94632403-A-T | c.1395+91583A>T | - | IntronicSNV | - | 2/19 | 1 |
| 7-94632402-TA-T | c.1395+91590del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94633445-C-CT | c.1395+92631dup | - | IntronicInsertion | - | 2/19 | 1 |
| 7-94639731-GA-G | c.1395+98921del | - | IntronicDeletion | - | 2/19 | 1 |
| 7-94644541-C-T | c.1396-96030C>T | - | IntronicSNV | - | 2/19 | 1 |
| 7-94644543-C-T | c.1396-96028C>T | - | IntronicSNV | - | 2/19 | 1 |
| 7-94644563-C-T | c.1396-96008C>T | - | IntronicSNV | - | 2/19 | 1 |
| 7-94648239-G-A | c.1396-92332G>A | - | IntronicSNV | - | 2/19 | 4 |
| 7-94685143-G-A | c.1396-55428G>A | - | IntronicSNV | - | 2/19 | 2 |
| 7-94720186-T-C | c.1396-20385T>C | - | IntronicSNV | - | 2/19 | 1 |
| 7-94720250-A-G | c.1396-20321A>G | - | IntronicSNV | - | 2/19 | 1 |
| 7-94722053-G-A | c.1396-18518G>A | - | IntronicSNV | - | 2/19 | 2 |
| 7-94722785-C-A | c.1396-17786C>A | - | IntronicSNV | - | 2/19 | 1 |
| 7-94731554-G-C | c.1396-9017G>C | - | IntronicSNV | - | 2/19 | 1 |
| 7-94740524-G-GGTT | c.1396-47_1396-46insGTT | - | IntronicInsertion | - | 2/19 | 1 |
| 7-94740538-C-A | c.1396-33C>A | - | IntronicSNV | - | 2/19 | 1 |
| 7-94740538-C-T | c.1396-33C>T | - | IntronicSNV | - | 2/19 | 1 |
| 7-94740572-T-G | c.1397T>G | p.V466G | Missense | 3/20 | - | 1 |
| 7-94740574-T-C | c.1399T>C | p.F467L | Missense | 3/20 | - | 2 |
| 7-94740576-C-A | c.1401C>A | p.F467L | Missense | 3/20 | - | 2 |
| 7-94740576-C-G | c.1401C>G | p.F467L | Missense | 3/20 | - | 4 |
| 7-94740584-A-G | c.1409A>G | p.Y470C | Missense | 3/20 | - | 2 |
| 7-94740585-C-T | c.1410C>T | p.Y470= | Synonymous | 3/20 | - | 1 |
| 7-94740588-C-A | c.1413C>A | p.S471= | Synonymous | 3/20 | - | 1 |
| 7-94740594-A-G | c.1419A>G | p.E473= | Synonymous | 3/20 | - | 1 |
| 7-94740598-T-C | c.1423T>C | p.Y475H | Missense | 3/20 | - | 1 |
| 7-94740599-A-G | c.1424A>G | p.Y475C | Missense | 3/20 | - | 1 |
| 7-94740600-T-A | c.1425T>A | p.Y475* | Nonsense | 3/20 | - | 1 |
| 7-94740600-T-G | c.1425T>G | p.Y475* | Nonsense | 3/20 | - | 1 |
| 7-94740602-A-T | c.1427A>T | p.D476V | Missense | 3/20 | - | 1 |
| 7-94740604-A-T | c.1429A>T | p.R477W | Missense | 3/20 | - | 1 |
| 7-94740608-G-T | c.1433G>T | p.R478I | Missense | 3/20 | - | 1 |
| 7-94740615-C-T | c.1440C>T | p.D480= | Synonymous | 3/20 | - | 2 |
| 7-94740616-G-A | c.1441G>A | p.E481K | Missense | 3/20 | - | 4 |
| 7-94740620-T-C | c.1445T>C | p.V482A | Missense | 3/20 | - | 1 |
| 7-94740625-C-T | c.1450C>T | p.P484S | Missense | 3/20 | - | 3 |
| 7-94740628-G-C | c.1453G>C | p.V485L | Missense | 3/20 | - | 1 |
| 7-94740628-G-T | c.1453G>T | p.V485L | Missense | 3/20 | - | 1 |
| 7-94740635-C-G | c.1460C>G | p.A487G | Missense | 3/20 | - | 1 |
| 7-94740637-T-A | c.1462T>A | p.S488T | Missense | 3/20 | - | 1 |
| 7-94740638-C-T | c.1463C>T | p.S488L | Missense | 3/20 | - | 1 |
| 7-94740642-T-C | c.1467T>C | p.A489= | Synonymous | 3/20 | - | 1 |
| 7-94740645-G-T | c.1470G>T | p.E490D | Missense | 3/20 | - | 1 |
| 7-94740647-A-G | c.1472A>G | p.Y491C | Missense | 3/20 | - | 1 |
| 7-94740652-C-A | c.1477C>A | p.L493I | Missense | 3/20 | - | 1 |
| 7-94740655-G-A | c.1480G>A | p.E494K | Missense | 3/20 | - | 1 |
| 7-94740655-GA-G | c.1485del | p.K495Nfs*3 | Frameshift | 3/20 | - | 4 |
| 7-94740662-G-A | c.1487G>A | p.R496H | Missense | 3/20 | - | 1 |
| 7-94740662-G-T | c.1487G>T | p.R496L | Missense | 3/20 | - | 2 |
| 7-94740664-G-A | c.1489G>A | p.V497I | Missense | 3/20 | - | 1 |
| 7-94740665-T-C | c.1490T>C | p.V497A | Missense | 3/20 | - | 1 |
| 7-94740675-G-C | c.1500G>C | p.L500= | Synonymous | 3/20 | - | 1 |
| 7-94740676-G-A | c.1501G>A | p.E501K | Missense | 3/20 | - | 1 |
| 7-94740679-C-A | c.1504C>A | p.L502I | Missense | 3/20 | - | 3 |
| 7-94740680-T-G | c.1505T>G | p.L502R | Missense | 3/20 | - | 1 |
| 7-94740684-C-T | c.1509C>T | p.F503= | Synonymous | 3/20 | - | 2 |
| 7-94740687-A-G | c.1512A>G | p.P504= | Synonymous | 3/20 | - | 1 |
| 7-94740690-G-A | c.1515G>A | p.V505= | Synonymous | 3/20 | - | 2 |
| 7-94740690-G-C | c.1515G>C | p.V505= | Synonymous | 3/20 | - | 1 |
| 7-94740690-G-T | c.1515G>T | p.V505= | Synonymous | 3/20 | - | 1 |
| 7-94740693-G-C | c.1518G>C | p.E506D | Missense | 3/20 | - | 1 |
| 7-94740697-G-C | c.1522G>C | p.E508Q | Missense | 3/20 | - | 2 |
| 7-94740699-G-C | c.1524G>C | p.E508D | Missense | 3/20 | - | 1 |
| 7-94740699-G-T | c.1524G>T | p.E508D | Missense | 3/20 | - | 1 |
| 7-94740703-G-T | c.1528G>T | p.D510Y | Missense | 3/20 | - | 1 |
| 7-94740795-G-A | c.1528+92G>A | - | IntronicSNV | - | 3/19 | 1 |
| 7-94747236-C-A | c.1529-2788C>A | - | IntronicSNV | - | 3/19 | 1 |
| 7-94750023-G-A | c.1529-1G>A | - | IntronicSNV | - | 3/19 | 1 |
| 7-94750023-G-T | c.1529-1G>T | - | IntronicSNV | - | 3/19 | 1 |
| 7-94750024-A-G | c.1529A>G | p.D510G | Missense | 4/20 | - | 1 |
| 7-94750026-G-A | c.1531G>A | p.E511K | Missense | 4/20 | - | 3 |
| 7-94750028-G-A | c.1533G>A | p.E511= | Synonymous | 4/20 | - | 1 |
| 7-94750029-G-T | c.1534G>T | p.D512Y | Missense | 4/20 | - | 3 |
| 7-94750030-A-T | c.1535A>T | p.D512V | Missense | 4/20 | - | 1 |
| 7-94750031-T-A | c.1536T>A | p.D512E | Missense | 4/20 | - | 1 |
| 7-94750031-T-G | c.1536T>G | p.D512E | Missense | 4/20 | - | 1 |
| 7-94750039-G-T | c.1544G>T | p.G515V | Missense | 4/20 | - | 5 |
| 7-94750047-A-G | c.1552A>G | p.I518V | Missense | 4/20 | - | 2 |
| 7-94750053-G-A | c.1558G>A | p.G520R | Missense | 4/20 | - | 1 |
| 7-94750054-G-A | c.1559G>A | p.G520E | Missense | 4/20 | - | 1 |
| 7-94750059-G-C | c.1564G>C | p.G522R | Missense | 4/20 | - | 1 |
| 7-94750065-G-A | c.1570G>A | p.G524R | Missense | 4/20 | - | 1 |
| 7-94750065-GGA-AGC | c.1570_1572delinsAGC | p.G524S | Missense | 4/20 | - | 2 |
| 7-94750065-G-T | c.1570G>T | p.G524* | Nonsense | 4/20 | - | 1 |
| 7-94750066-G-A | c.1571G>A | p.G524E | Missense | 4/20 | - | 1 |
| 7-94750068-G-T | c.1573G>T | p.A525S | Missense | 4/20 | - | 1 |
| 7-94750069-C-T | c.1574C>T | p.A525V | Missense | 4/20 | - | 8 |
| 7-94750071-G-A | c.1576G>A | p.D526N | Missense | 4/20 | - | 2 |
| 7-94750071-G-C | c.1576G>C | p.D526H | Missense | 4/20 | - | 1 |
| 7-94750075-C-T | c.1580C>T | p.A527V | Missense | 4/20 | - | 1 |
| 7-94750077-G-A | c.1582G>A | p.G528R | Missense | 4/20 | - | 1 |
| 7-94750077-G-C | c.1582G>C | p.G528R | Missense | 4/20 | - | 1 |
| 7-94750077-G-T | c.1582G>T | p.G528* | Nonsense | 4/20 | - | 1 |
| 7-94750078-G-T | c.1583G>T | p.G528V | Missense | 4/20 | - | 1 |
| 7-94750083-G-C | c.1588G>C | p.E530Q | Missense | 4/20 | - | 1 |
| 7-94750088-G-T | c.1593G>T | p.K531N | Missense | 4/20 | - | 1 |
| 7-94750092-G-A | c.1597G>A | p.G533R | Missense | 4/20 | - | 2 |
| 7-94750093-G-A | c.1598G>A | p.G533E | Missense | 4/20 | - | 3 |
| 7-94750099-T-G | c.1604T>G | p.F535C | Missense | 4/20 | - | 1 |
| 7-94750100-C-T | c.1605C>T | p.F535= | Synonymous | 4/20 | - | 3 |
| 7-94750101-G-A | c.1606G>A | p.V536I | Missense | 4/20 | - | 3 |
| 7-94750106-G-C | c.1611G>C | p.K537N | Missense | 4/20 | - | 1 |
| 7-94750106-G-T | c.1611G>T | p.K537N | Missense | 4/20 | - | 1 |
| 7-94750107-A-G | c.1612A>G | p.T538A | Missense | 4/20 | - | 1 |
| 7-94750114-C-T | c.1619C>T | p.T540I | Missense | 4/20 | - | 1 |
| 7-94750119-G-A | c.1624G>A | p.G542S | Missense | 4/20 | - | 3 |
| 7-94750121-T-A | c.1626T>A | p.G542= | Synonymous | 4/20 | - | 1 |
| 7-94750121-T-C | c.1626T>C | p.G542= | Synonymous | 4/20 | - | 1 |
| 7-94750121-T-G | c.1626T>G | p.G542= | Synonymous | 4/20 | - | 2 |
| 7-94750123-G-C | c.1628G>C | p.G543A | Missense | 4/20 | - | 1 |
| 7-94750129-C-A | c.1634C>A | p.A545D | Missense | 4/20 | - | 1 |
| 7-94750129-C-G | c.1634C>G | p.A545G | Missense | 4/20 | - | 1 |
| 7-94750129-C-T | c.1634C>T | p.A545V | Missense | 4/20 | - | 1 |
| 7-94750131-C-T | c.1636C>T | p.Q546* | Nonsense | 4/20 | - | 1 |
| 7-94750134-C-T | c.1639C>T | p.R547W | Missense | 4/20 | - | 1 |
| 7-94750135-G-A | c.1640G>A | p.R547Q | Missense | 4/20 | - | 3 |
| 7-94750135-GG-AT | c.1640_1641delinsAT | p.R547H | Missense | 4/20 | - | 1 |
| 7-94750136-G-A | c.1641G>A | p.R547= | Synonymous | 4/20 | - | 1 |
| 7-94750137-G-A | c.1642G>A | p.D548N | Missense | 4/20 | - | 1 |
| 7-94750141-G-T | c.1646G>T | p.G549V | Missense | 4/20 | - | 2 |
| 7-94752973-CA-C | c.1649+2838del | - | IntronicDeletion | - | 4/19 | 1 |
| 7-94755141-GT-G | c.1649+5005del | - | IntronicDeletion | - | 4/19 | 1 |
| 7-94767533-C-T | c.1649+17389C>T | - | IntronicSNV | - | 4/19 | 1 |
| 7-94769216-G-A | c.1649+19072G>A | - | IntronicSNV | - | 4/19 | 1 |
| 7-94791186-G-A | c.1657G>A | p.V553I | Missense | 5/20 | - | 1 |
| 7-94791190-A-G | c.1661A>G | p.N554S | Missense | 5/20 | - | 1 |
| 7-94791201-G-C | c.1672G>C | p.V558L | Missense | 5/20 | - | 1 |
| 7-94791201-G-T | c.1672G>T | p.V558L | Missense | 5/20 | - | 1 |
| 7-94791203-G-A | c.1674G>A | p.V558= | Synonymous | 5/20 | - | 2 |
| 7-94791203-G-C | c.1674G>C | p.V558= | Synonymous | 5/20 | - | 2 |
| 7-94791203-G-T | c.1674G>T | p.V558= | Synonymous | 5/20 | - | 2 |
| 7-94791209-G-A | c.1680G>A | p.V560= | Synonymous | 5/20 | - | 1 |
| 7-94791218-C-A | c.1689C>A | p.I563= | Synonymous | 5/20 | - | 1 |
| 7-94791219-AG-CT | c.1690_1691inv | p.S564L | Missense | 5/20 | - | 1 |
| 7-94791221-C-T | c.1692C>T | p.S564= | Synonymous | 5/20 | - | 1 |
| 7-94791222-T-C | c.1693T>C | p.L565= | Synonymous | 5/20 | - | 1 |
| 7-94791224-G-A | c.1695G>A | p.L565= | Synonymous | 5/20 | - | 1 |
| 7-94791225-G-A | c.1696G>A | p.V566M | Missense | 5/20 | - | 2 |
| 7-94791228-G-A | c.1699G>A | p.G567S | Missense | 5/20 | - | 1 |
| 7-94791228-G-C | c.1699G>C | p.G567R | Missense | 5/20 | - | 3 |
| 7-94791231-G-A | c.1702G>A | p.V568M | Missense | 5/20 | - | 2 |
| 7-94791241-A-T | c.1712A>T | p.N571I | Missense | 5/20 | - | 1 |
| 7-94791248-A-T | c.1719A>T | p.A573= | Synonymous | 5/20 | - | 1 |
| 7-94791249-G-A | c.1720G>A | p.A574T | Missense | 5/20 | - | 1 |
| 7-94791253-C-T | c.1724C>T | p.T575I | Missense | 5/20 | - | 1 |
| 7-94791255-G-T | c.1726G>T | p.V576F | Missense | 5/20 | - | 1 |
| 7-94791269-C-T | c.1740C>T | p.T580= | Synonymous | 5/20 | - | 3 |
| 7-94791272-G-C | c.1743G>C | p.K581N | Missense | 5/20 | - | 1 |
| 7-94791272-G-T | c.1743G>T | p.K581N | Missense | 5/20 | - | 1 |
| 7-94791273-G-A | c.1744G>A | p.G582S | Missense | 5/20 | - | 2 |
| 7-94791278-C-T | c.1749C>T | p.N583= | Synonymous | 5/20 | - | 1 |
| 7-94791279-G-A | c.1750G>A | p.V584I | Missense | 5/20 | - | 2 |
| 7-94791279-G-T | c.1750G>T | p.V584F | Missense | 5/20 | - | 1 |
| 7-94791283-G-GATTT | c.1754_1754+1insATTT | p.V587Ifs*40 | SpliceDonorInsertion | - | - | 1 |
| 7-94791284-G-C | c.1754+1G>C | - | IntronicSNV | - | 5/19 | 1 |
| 7-94791291-C-T | c.1754+8C>T | - | IntronicSNV | - | 5/19 | 1 |
| 7-94791319-A-T | c.1754+36A>T | - | IntronicSNV | - | 5/19 | 1 |
| 7-94791782-AT-A | c.1754+507del | - | IntronicDeletion | - | 5/19 | 1 |
| 7-94800085-G-A | c.1754+8802G>A | - | IntronicSNV | - | 5/19 | 1 |
| 7-94800085-G-C | c.1754+8802G>C | - | IntronicSNV | - | 5/19 | 1 |
| 7-94804887-AT-A | c.1754+13613del | - | IntronicDeletion | - | 5/19 | 1 |
| 7-94805981-TA-T | c.1754+14705del | - | IntronicDeletion | - | 5/19 | 1 |
| 7-94808938-A-G | c.1754+17655A>G | - | IntronicSNV | - | 5/19 | 1 |
| 7-94827665-G-C | c.1759G>C | p.V587L | Missense | 6/20 | - | 1 |
| 7-94827674-C-T | c.1768C>T | p.R590W | Missense | 6/20 | - | 3 |
| 7-94827675-G-A | c.1769G>A | p.R590Q | Missense | 6/20 | - | 3 |
| 7-94827677-G-A | c.1771G>A | p.E591K | Missense | 6/20 | - | 9 |
| 7-94827677-G-T | c.1771G>T | p.E591* | Nonsense | 6/20 | - | 2 |
| 7-94827678-A-G | c.1772A>G | p.E591G | Missense | 6/20 | - | 2 |
| 7-94827679-A-C | c.1773A>C | p.E591D | Missense | 6/20 | - | 1 |
| 7-94827679-A-T | c.1773A>T | p.E591D | Missense | 6/20 | - | 1 |
| 7-94827677-GA-G | c.1776del | p.K592Nfs*5 | Frameshift | 6/20 | - | 1 |
| 7-94827686-G-C | c.1780G>C | p.G594R | Missense | 6/20 | - | 1 |
| 7-94827691-A-C | c.1785A>C | p.Q595H | Missense | 6/20 | - | 2 |
| 7-94827691-A-T | c.1785A>T | p.Q595H | Missense | 6/20 | - | 3 |
| 7-94827694-G-A | c.1788G>A | p.V596= | Synonymous | 6/20 | - | 3 |
| 7-94827694-G-C | c.1788G>C | p.V596= | Synonymous | 6/20 | - | 1 |
| 7-94827694-G-T | c.1788G>T | p.V596= | Synonymous | 6/20 | - | 1 |
| 7-94827698-G-A | c.1792G>A | p.E598K | Missense | 6/20 | - | 2 |
| 7-94827710-T-C | c.1804T>C | p.L602= | Synonymous | 6/20 | - | 1 |
| 7-94827712-G-A | c.1806G>A | p.L602= | Synonymous | 6/20 | - | 1 |
| 7-94827712-G-C | c.1806G>C | p.L602F | Missense | 6/20 | - | 4 |
| 7-94827721-G-A | c.1815G>A | p.Q605= | Synonymous | 6/20 | - | 1 |
| 7-94827721-G-T | c.1815G>T | p.Q605H | Missense | 6/20 | - | 1 |
| 7-94827736-G-T | c.1830G>T | p.E610D | Missense | 6/20 | - | 1 |
| 7-94827740-C-T | c.1834C>T | p.R612C | Missense | 6/20 | - | 4 |
| 7-94827749-AGAG-A | c.1843_1845del | p.E615del | InFrameDeletion | 6/20 | - | 1 |
| 7-94827749-G-A | c.1843G>A | p.E615K | Missense | 6/20 | - | 1 |
| 7-94827751-G-C | c.1845G>C | p.E615D | Missense | 6/20 | - | 1 |
| 7-94827751-G-T | c.1845G>T | p.E615D | Missense | 6/20 | - | 1 |
| 7-94827758-G-A | c.1852G>A | p.E618K | Missense | 6/20 | - | 2 |
| 7-94827759-A-C | c.1853A>C | p.E618A | Missense | 6/20 | - | 3 |
| 7-94827761-C-G | c.1855C>G | p.Q619E | Missense | 6/20 | - | 1 |
| 7-94827765-A-AC | c.1860dup | p.Y621Lfs*5 | Frameshift | 6/20 | - | 1 |
| 7-94827767-T-TA | c.1862dup | p.Y621* | Nonsense | 6/20 | - | 1 |
| 7-94827771-CC-AG | c.1865_1866delinsAG | p.A622E | Missense | 6/20 | - | 1 |
| 7-94827773-C-A | c.1867C>A | p.Q623K | Missense | 6/20 | - | 1 |
| 7-94827781-T-A | c.1875T>A | p.D625E | Missense | 6/20 | - | 1 |
| 7-94827781-T-G | c.1875T>G | p.D625E | Missense | 6/20 | - | 1 |
| 7-94827788-G-A | c.1882G>A | p.D628N | Missense | 6/20 | - | 2 |
| 7-94827790-T-C | c.1884T>C | p.D628= | Synonymous | 6/20 | - | 1 |
| 7-94827791-G-A | c.1885G>A | p.D629N | Missense | 6/20 | - | 1 |
| 7-94827794-G-C | c.1888G>C | p.E630Q | Missense | 6/20 | - | 1 |
| 7-94827813-A-G | c.1890+17A>G | - | IntronicSNV | - | 6/19 | 2 |
| 7-94827962-G-A | c.1890+166G>A | - | IntronicSNV | - | 6/19 | 1 |
| 7-94831043-G-A | c.1891-1934G>A | - | IntronicSNV | - | 6/19 | 1 |
| 7-94831836-T-TG | c.1891-1141_1891-1140insG | - | IntronicInsertion | - | 6/19 | 1 |
| 7-94832983-G-A | c.1897G>A | p.V633M | Missense | 7/20 | - | 1 |
| 7-94832984-T-C | c.1898T>C | p.V633A | Missense | 7/20 | - | 1 |
| 7-94833007-G-A | c.1921G>A | p.G641S | Missense | 7/20 | - | 1 |
| 7-94833014-G-A | c.1928G>A | p.C643Y | Missense | 7/20 | - | 1 |
| 7-94833021-C-T | c.1935C>T | p.N645= | Synonymous | 7/20 | - | 1 |
| 7-94833023-A-T | c.1937A>T | p.N646I | Missense | 7/20 | - | 1 |
| 7-94833024-T-A | c.1938T>A | p.N646K | Missense | 7/20 | - | 1 |
| 7-94833024-T-C | c.1938T>C | p.N646= | Synonymous | 7/20 | - | 1 |
| 7-94833036-T-C | c.1950T>C | p.F650= | Synonymous | 7/20 | - | 1 |
| 7-94833042-G-A | c.1956G>A | p.K652= | Synonymous | 7/20 | - | 5 |
| 7-94835277-GA-G | c.1956+2244del | - | IntronicDeletion | - | 7/19 | 1 |
| 7-94839444-T-G | c.1956+6402T>G | - | IntronicSNV | - | 7/19 | 1 |
| 7-94843831-T-C | c.1956+10789T>C | - | IntronicSNV | - | 7/19 | 1 |
| 7-94843830-CT-C | c.1956+10797del | - | IntronicDeletion | - | 7/19 | 1 |
| 7-94846903-G-A | c.1957-8370G>A | - | IntronicSNV | - | 7/19 | 1 |
| 7-94846903-G-T | c.1957-8370G>T | - | IntronicSNV | - | 7/19 | 1 |
| 7-94855276-G-GT | c.1960_1961insT | p.G654Vfs*7 | Frameshift | 8/20 | - | 1 |
| 7-94855277-G-C | c.1961G>C | p.G654A | Missense | 8/20 | - | 1 |
| 7-94855279-G-C | c.1963G>C | p.E655Q | Missense | 8/20 | - | 2 |
| 7-94855281-A-G | c.1965A>G | p.E655= | Synonymous | 8/20 | - | 1 |
| 7-94855292-A-C | c.1976A>C | p.D659A | Missense | 8/20 | - | 1 |
| 7-94855293-T-C | c.1977T>C | p.D659= | Synonymous | 8/20 | - | 1 |
| 7-94855295-A-G | c.1979A>G | p.E660G | Missense | 8/20 | - | 1 |
| 7-94855301-A-C | c.1985A>C | p.E662A | Missense | 8/20 | - | 2 |
| 7-94855306-G-A | c.1990G>A | p.E664K | Missense | 8/20 | - | 1 |
| 7-94855306-G-T | c.1990G>T | p.E664* | Nonsense | 8/20 | - | 1 |
| 7-94855312-G-T | c.1996G>T | p.G666* | Nonsense | 8/20 | - | 1 |
| 7-94855315-C-T | c.1999C>T | p.P667S | Missense | 8/20 | - | 1 |
| 7-94855332-C-T | c.2016C>T | p.S672= | Synonymous | 8/20 | - | 2 |
| 7-94855333-G-A | c.2017G>A | p.D673N | Missense | 8/20 | - | 1 |
| 7-94855335-C-A | c.2019C>A | p.D673E | Missense | 8/20 | - | 1 |
| 7-94855338-G-A | c.2022G>A | p.M674I | Missense | 8/20 | - | 1 |
| 7-94855338-G-C | c.2022G>C | p.M674I | Missense | 8/20 | - | 1 |
| 7-94855338-G-T | c.2022G>T | p.M674I | Missense | 8/20 | - | 1 |
| 7-94855345-G-T | c.2029G>T | p.E677* | Nonsense | 8/20 | - | 1 |
| 7-94855349-T-C | c.2033T>C | p.V678A | Missense | 8/20 | - | 1 |
| 7-94855351-T-G | c.2035T>G | p.F679V | Missense | 8/20 | - | 1 |
| 7-94855364-A-C | c.2048A>C | p.E683A | Missense | 8/20 | - | 1 |
| 7-94855369-G-C | c.2053G>C | p.E685Q | Missense | 8/20 | - | 1 |
| 7-94855375-A-G | c.2059A>G | p.M687V | Missense | 8/20 | - | 1 |
| 7-94855376-T-C | c.2060T>C | p.M687T | Missense | 8/20 | - | 1 |
| 7-94855377-TG-T | c.2061del | p.M687Ifs*33 | Frameshift | 8/20 | - | 1 |
| 7-94855379-T-A | c.2063T>A | p.F688Y | Missense | 8/20 | - | 1 |
| 7-94855384-C-T | c.2068C>T | p.P690S | Missense | 8/20 | - | 1 |
| 7-94855388-C-T | c.2072C>T | p.S691L | Missense | 8/20 | - | 1 |
| 7-94855396-G-A | c.2080G>A | p.D694N | Missense | 8/20 | - | 2 |
| 7-94855408-CTC-ATG | c.2092_2094delinsATG | p.L698M | Missense | 8/20 | - | 1 |
| 7-94855417-A-G | c.2101A>G | p.K701E | Missense | 8/20 | - | 1 |
| 7-94855425-A-G | c.2109A>G | p.K703= | Synonymous | 8/20 | - | 1 |
| 7-94855428-G-A | c.2112G>A | p.E704= | Synonymous | 8/20 | - | 1 |
| 7-94855428-G-C | c.2112G>C | p.E704D | Missense | 8/20 | - | 1 |
| 7-94855436-A-T | c.2112+8A>T | - | IntronicSNV | - | 8/19 | 1 |
| 7-94858301-G-A | c.2112+2873G>A | - | IntronicSNV | - | 8/19 | 1 |
| 7-94868803-A-C | c.2113-7982A>C | - | IntronicSNV | - | 8/19 | 1 |
| 7-94871724-A-C | c.2113-5061A>C | - | IntronicSNV | - | 8/19 | 4 |
| 7-94871724-A-G | c.2113-5061A>G | - | IntronicSNV | - | 8/19 | 4 |
| 7-94872191-A-G | c.2113-4594A>G | - | IntronicSNV | - | 8/19 | 1 |
| 7-94874815-C-T | c.2113-1970C>T | - | IntronicSNV | - | 8/19 | 1 |
| 7-94876752-A-C | c.2113-33A>C | - | IntronicSNV | - | 8/19 | 1 |
| 7-94876786-T-A | c.2114T>A | p.L705* | Nonsense | 9/20 | - | 1 |
| 7-94876793-C-A | c.2121C>A | p.I707= | Synonymous | 9/20 | - | 1 |
| 7-94876799-T-C | c.2127T>C | p.H709= | Synonymous | 9/20 | - | 1 |
| 7-94876801-C-T | c.2129C>T | p.A710V | Missense | 9/20 | - | 1 |
| 7-94876803-G-A | c.2131G>A | p.V711I | Missense | 9/20 | - | 2 |
| 7-94876803-GTT-ATG | c.2131_2133delinsATG | p.V711M | Missense | 9/20 | - | 1 |
| 7-94876812-G-GA | c.2140_2141insA | p.A714Dfs*16 | Frameshift | 9/20 | - | 1 |
| 7-94876815-G-A | c.2143G>A | p.E715K | Missense | 9/20 | - | 1 |
| 7-94876824-A-T | c.2152A>T | p.K718* | Nonsense | 9/20 | - | 1 |
| 7-94876828-T-G | c.2156T>G | p.L719W | Missense | 9/20 | - | 1 |
| 7-94879088-G-A | c.2167-250G>A | - | IntronicSNV | - | 9/19 | 1 |
| 7-94879088-G-T | c.2167-250G>T | - | IntronicSNV | - | 9/19 | 1 |
| 7-94879225-A-T | c.2167-113A>T | - | IntronicSNV | - | 9/19 | 3 |
| 7-94879347-G-A | c.2176G>A | p.A726T | Missense | 10/20 | - | 1 |
| 7-94879350-G-A | c.2179G>A | p.E727K | Missense | 10/20 | - | 1 |
| 7-94879350-G-T | c.2179G>T | p.E727* | Nonsense | 10/20 | - | 3 |
| 7-94879351-A-G | c.2180A>G | p.E727G | Missense | 10/20 | - | 1 |
| 7-94879356-G-A | c.2185G>A | p.E729K | Missense | 10/20 | - | 1 |
| 7-94879385-C-CACA | c.2214_2215insACA | p.T738dup | InFrameInsertion | 10/20 | - | 1 |
| 7-94879386-C-A | c.2215C>A | p.Q739K | Missense | 10/20 | - | 1 |
| 7-94879396-A-T | c.2225A>T | p.Q742L | Missense | 10/20 | - | 1 |
| 7-94879416-G-A | c.2245G>A | p.E749K | Missense | 10/20 | - | 1 |
| 7-94879427-G-A | c.2256G>A | p.L752= | Synonymous | 10/20 | - | 1 |
| 7-94879431-T-G | c.2260T>G | p.L754V | Missense | 10/20 | - | 1 |
| 7-94879431-TT-CC | c.2260_2261delinsCC | p.L754P | Missense | 10/20 | - | 1 |
| 7-94879438-G-T | c.2267G>T | p.S756I | Missense | 10/20 | - | 1 |
| 7-94879440-T-C | c.2269T>C | p.Y757H | Missense | 10/20 | - | 5 |
| 7-94879452-G-A | c.2281G>A | p.A761T | Missense | 10/20 | - | 4 |
| 7-94879455-C-A | c.2284C>A | p.Q762K | Missense | 10/20 | - | 1 |
| 7-94879457-A-C | c.2286A>C | p.Q762H | Missense | 10/20 | - | 1 |
| 7-94879459-C-A | c.2288C>A | p.T763K | Missense | 10/20 | - | 1 |
| 7-94879465-G-A | c.2294G>A | p.C765Y | Missense | 10/20 | - | 2 |
| 7-94879468-A-C | c.2297A>C | p.H766P | Missense | 10/20 | - | 1 |
| 7-94879466-CCA-C | c.2300_2301del | p.T767Sfs*3 | Frameshift | 10/20 | - | 1 |
| 7-94879482-C-A | c.2311C>A | p.H771N | Missense | 10/20 | - | 1 |
| 7-94879489-A-G | c.2318A>G | p.K773R | Missense | 10/20 | - | 1 |
| 7-94879490-A-G | c.2319A>G | p.K773= | Synonymous | 10/20 | - | 1 |
| 7-94879493-G-A | c.2322G>A | p.E774= | Synonymous | 10/20 | - | 1 |
| 7-94879495-C-T | c.2324C>T | p.T775I | Missense | 10/20 | - | 1 |
| 7-94879506-T-C | c.2335T>C | p.Y779H | Missense | 10/20 | - | 1 |
| 7-94879514-C-T | c.2343C>T | p.A781= | Synonymous | 10/20 | - | 2 |
| 7-94879515-T-C | c.2344T>C | p.L782= | Synonymous | 10/20 | - | 1 |
| 7-94879520-A-T | c.2349A>T | p.E783D | Missense | 10/20 | - | 1 |
| 7-94879528-A-T | c.2357A>T | p.Y786F | Missense | 10/20 | - | 1 |
| 7-94879541-G-C | c.2370G>C | p.K790N | Missense | 10/20 | - | 1 |
| 7-94879541-G-T | c.2370G>T | p.K790N | Missense | 10/20 | - | 1 |
| 7-94879544-G-C | c.2373G>C | p.K791N | Missense | 10/20 | - | 1 |
| 7-94879544-G-T | c.2373G>T | p.K791N | Missense | 10/20 | - | 1 |
| 7-94879550-C-T | c.2379C>T | p.I793= | Synonymous | 10/20 | - | 1 |
| 7-94879552-A-G | c.2381A>G | p.K794R | Missense | 10/20 | - | 1 |
| 7-94879554-G-A | c.2383G>A | p.D795N | Missense | 10/20 | - | 1 |
| 7-94879567-A-C | c.2396A>C | p.K799T | Missense | 10/20 | - | 1 |
| 7-94881097-A-G | c.2420A>G | p.Q807R | Missense | 11/20 | - | 1 |
| 7-94881108-AGA-TGT | c.2431_2433delinsTGT | p.R811C | Missense | 11/20 | - | 1 |
| 7-94881109-G-A | c.2432G>A | p.R811K | Missense | 11/20 | - | 4 |
| 7-94881115-A-AAT | c.2439_2440insTA | p.I814* | Nonsense | 11/20 | - | 1 |
| 7-94881113-GA-G | c.2440del | p.I814* | Frameshift | 11/20 | - | 1 |
| 7-94881129-G-A | c.2452G>A | p.E818K | Missense | 11/20 | - | 3 |
| 7-94881130-A-G | c.2453A>G | p.E818G | Missense | 11/20 | - | 2 |
| 7-94881129-GA-G | c.2457del | p.A820Lfs*24 | Frameshift | 11/20 | - | 1 |
| 7-94881136-C-T | c.2459C>T | p.A820V | Missense | 11/20 | - | 1 |
| 7-94881150-G-A | c.2473G>A | p.V825M | Missense | 11/20 | - | 1 |
| 7-94881156-G-A | c.2479G>A | p.G827S | Missense | 11/20 | - | 1 |
| 7-94881156-G-C | c.2479G>C | p.G827R | Missense | 11/20 | - | 1 |
| 7-94881157-G-A | c.2480G>A | p.G827D | Missense | 11/20 | - | 2 |
| 7-94881157-G-C | c.2480G>C | p.G827A | Missense | 11/20 | - | 3 |
| 7-94881164-A-C | c.2487A>C | p.Q829H | Missense | 11/20 | - | 1 |
| 7-94881164-A-T | c.2487A>T | p.Q829H | Missense | 11/20 | - | 1 |
| 7-94881165-G-A | c.2488G>A | p.V830M | Missense | 11/20 | - | 1 |
| 7-94881169-G-A | c.2492G>A | p.R831Q | Missense | 11/20 | - | 1 |
| 7-94881174-A-C | c.2493+4A>C | - | IntronicSNV | - | 11/19 | 1 |
| 7-94881282-G-C | c.2505G>C | p.L835F | Missense | 12/20 | - | 1 |
| 7-94881282-G-T | c.2505G>T | p.L835F | Missense | 12/20 | - | 1 |
| 7-94881283-G-T | c.2506G>T | p.E836* | Nonsense | 12/20 | - | 1 |
| 7-94881286-G-T | c.2509G>T | p.A837S | Missense | 12/20 | - | 1 |
| 7-94881289-G-C | c.2512G>C | p.E838Q | Missense | 12/20 | - | 1 |
| 7-94881290-A-T | c.2513A>T | p.E838V | Missense | 12/20 | - | 1 |
| 7-94881298-A-C | c.2521A>C | p.R841= | Synonymous | 12/20 | - | 1 |
| 7-94881300-G-A | c.2523G>A | p.R841= | Synonymous | 12/20 | - | 1 |
| 7-94881310-C-T | c.2533C>T | p.Q845* | Nonsense | 12/20 | - | 1 |
| 7-94881314-A-G | c.2537A>G | p.N846S | Missense | 12/20 | - | 3 |
| 7-94881316-G-A | c.2539G>A | p.G847R | Missense | 12/20 | - | 2 |
| 7-94881316-G-C | c.2539G>C | p.G847R | Missense | 12/20 | - | 1 |
| 7-94881316-G-T | c.2539G>T | p.G847W | Missense | 12/20 | - | 4 |
| 7-94881318-G-A | c.2541G>A | p.G847= | Synonymous | 12/20 | - | 1 |
| 7-94881318-G-C | c.2541G>C | p.G847= | Synonymous | 12/20 | - | 1 |
| 7-94881318-G-T | c.2541G>T | p.G847= | Synonymous | 12/20 | - | 1 |
| 7-94881349-G-A | c.2572G>A | p.E858K | Missense | 12/20 | - | 1 |
| 7-94881353-G-A | c.2576G>A | p.R859K | Missense | 12/20 | - | 1 |
| 7-94881356-G-C | c.2579G>C | p.R860T | Missense | 12/20 | - | 1 |
| 7-94881366-T-A | c.2589T>A | p.L863= | Synonymous | 12/20 | - | 1 |
| 7-94881366-T-C | c.2589T>C | p.L863= | Synonymous | 12/20 | - | 1 |
| 7-94881366-T-G | c.2589T>G | p.L863= | Synonymous | 12/20 | - | 1 |
| 7-94881367-G-A | c.2590G>A | p.G864S | Missense | 12/20 | - | 1 |
| 7-94881368-G-C | c.2591G>C | p.G864A | Missense | 12/20 | - | 1 |
| 7-94881370-G-A | c.2593G>A | p.E865K | Missense | 12/20 | - | 2 |
| 7-94881370-G-C | c.2593G>C | p.E865Q | Missense | 12/20 | - | 1 |
| 7-94881376-T-G | c.2599T>G | p.S867A | Missense | 12/20 | - | 1 |
| 7-94881377-C-T | c.2600C>T | p.S867F | Missense | 12/20 | - | 1 |
| 7-94881385-G-T | c.2608G>T | p.D870Y | Missense | 12/20 | - | 1 |
| 7-94881391-A-G | c.2614A>G | p.M872V | Missense | 12/20 | - | 1 |
| 7-94881393-G-A | c.2616G>A | p.M872I | Missense | 12/20 | - | 1 |
| 7-94881393-G-C | c.2616G>C | p.M872I | Missense | 12/20 | - | 1 |
| 7-94881393-G-T | c.2616G>T | p.M872I | Missense | 12/20 | - | 1 |
| 7-94881394-G-T | c.2617G>T | p.E873* | Nonsense | 12/20 | - | 2 |
| 7-94881396-G-T | c.2619G>T | p.E873D | Missense | 12/20 | - | 1 |
| 7-94881398-A-T | c.2621A>T | p.N874I | Missense | 12/20 | - | 1 |
| 7-94881403-G-A | c.2626G>A | p.D876N | Missense | 12/20 | - | 1 |
| 7-94881403-G-C | c.2626G>C | p.D876H | Missense | 12/20 | - | 1 |
| 7-94881404-A-T | c.2627A>T | p.D876V | Missense | 12/20 | - | 1 |
| 7-94881411-G-A | c.2634G>A | p.K878= | Synonymous | 12/20 | - | 1 |
| 7-94881422-G-T | c.2645G>T | p.C882F | Missense | 12/20 | - | 1 |
| 7-94881430-G-T | c.2653G>T | p.G885C | Missense | 12/20 | - | 2 |
| 7-94881439-C-T | c.2662C>T | p.Q888* | Nonsense | 12/20 | - | 1 |
| 7-94881445-T-A | c.2665+3T>A | - | IntronicSNV | - | 12/19 | 1 |
| 7-94881456-A-T | c.2665+14A>T | - | IntronicSNV | - | 12/19 | 1 |
| 7-94881608-T-C | c.2665+166T>C | - | IntronicSNV | - | 12/19 | 1 |
| 7-94888599-CT-C | c.2665+7168del | - | IntronicDeletion | - | 12/19 | 1 |
| 7-94896213-G-A | c.2666-1649G>A | - | IntronicSNV | - | 12/19 | 1 |
| 7-94896213-G-T | c.2666-1649G>T | - | IntronicSNV | - | 12/19 | 1 |
| 7-94896840-G-A | c.2666-1022G>A | - | IntronicSNV | - | 12/19 | 1 |
| 7-94897801-T-C | c.2666-61T>C | - | IntronicSNV | - | 12/19 | 7 |
| 7-94897863-C-T | c.2667C>T | p.D889= | Synonymous | 13/20 | - | 2 |
| 7-94897878-C-G | c.2682C>G | p.V894= | Synonymous | 13/20 | - | 1 |
| 7-94897879-C-T | c.2683C>T | p.P895S | Missense | 13/20 | - | 2 |
| 7-94897884-G-T | c.2688G>T | p.E896D | Missense | 13/20 | - | 1 |
| 7-94897885-A-T | c.2689A>T | p.T897S | Missense | 13/20 | - | 1 |
| 7-94897892-G-T | c.2696G>T | p.R899L | Missense | 13/20 | - | 1 |
| 7-94897901-CA-TT | c.2705_2706delinsTT | p.S902F | Missense | 13/20 | - | 2 |
| 7-94897903-A-C | c.2707A>C | p.K903Q | Missense | 13/20 | - | 2 |
| 7-94897911-G-A | c.2715G>A | p.L905= | Synonymous | 13/20 | - | 1 |
| 7-94897918-C-T | c.2722C>T | p.R908* | Nonsense | 13/20 | - | 1 |
| 7-94897919-G-A | c.2723G>A | p.R908Q | Missense | 13/20 | - | 1 |
| 7-94897919-G-C | c.2723G>C | p.R908P | Missense | 13/20 | - | 1 |
| 7-94897922-C-T | c.2726C>T | p.A909V | Missense | 13/20 | - | 1 |
| 7-94897930-TC-AT | c.2734_2735delinsAT | p.S912I | Missense | 13/20 | - | 1 |
| 7-94897931-C-A | c.2735C>A | p.S912Y | Missense | 13/20 | - | 1 |
| 7-94897942-A-C | c.2746A>C | p.R916= | Synonymous | 13/20 | - | 1 |
| 7-94897944-A-G | c.2748A>G | p.R916= | Synonymous | 13/20 | - | 1 |
| 7-94897945-C-A | c.2749C>A | p.R917S | Missense | 13/20 | - | 3 |
| 7-94897945-C-T | c.2749C>T | p.R917C | Missense | 13/20 | - | 7 |
| 7-94897946-G-A | c.2750G>A | p.R917H | Missense | 13/20 | - | 1 |
| 7-94897946-G-T | c.2750G>T | p.R917L | Missense | 13/20 | - | 1 |
| 7-94897952-G-C | c.2756G>C | p.R919T | Missense | 13/20 | - | 1 |
| 7-94897962-G-C | c.2766G>C | p.R922S | Missense | 13/20 | - | 1 |
| 7-94897962-G-T | c.2766G>T | p.R922S | Missense | 13/20 | - | 1 |
| 7-94897967-G-T | c.2771G>T | p.R924I | Missense | 13/20 | - | 1 |
| 7-94897973-A-G | c.2777A>G | p.Y926C | Missense | 13/20 | - | 1 |
| 7-94897975-G-A | c.2779G>A | p.D927N | Missense | 13/20 | - | 2 |
| 7-94897979-G-C | c.2783G>C | p.S928T | Missense | 13/20 | - | 1 |
| 7-94897982-T-C | c.2786T>C | p.V929A | Missense | 13/20 | - | 1 |
| 7-94897996-G-C | c.2800G>C | p.G934R | Missense | 13/20 | - | 1 |
| 7-94898011-G-T | c.2815G>T | p.E939* | Nonsense | 13/20 | - | 1 |
| 7-94898233-T-C | c.2823+214T>C | - | IntronicSNV | - | 13/19 | 4 |
| 7-94898529-G-A | c.2834G>A | p.S945N | Missense | 14/20 | - | 1 |
| 7-94898552-A-G | c.2857A>G | p.T953A | Missense | 14/20 | - | 2 |
| 7-94898558-T-G | c.2863T>G | p.L955V | Missense | 14/20 | - | 1 |
| 7-94898565-C-T | c.2870C>T | p.P957L | Missense | 14/20 | - | 2 |
| 7-94898574-G-A | c.2879G>A | p.G960D | Missense | 14/20 | - | 2 |
| 7-94898584-G-A | c.2889G>A | p.T963= | Synonymous | 14/20 | - | 1 |
| 7-94898586-C-T | c.2891C>T | p.S964F | Missense | 14/20 | - | 1 |
| 7-94898588-T-C | c.2893T>C | p.S965P | Missense | 14/20 | - | 1 |
| 7-94898594-G-A | c.2899G>A | p.E967K | Missense | 14/20 | - | 4 |
| 7-94898612-C-T | c.2917C>T | p.P973S | Missense | 14/20 | - | 1 |
| 7-94898617-C-T | c.2922C>T | p.P974= | Synonymous | 14/20 | - | 1 |
| 7-94898625-C-T | c.2930C>T | p.P977L | Missense | 14/20 | - | 1 |
| 7-94898626-G-A | c.2931G>A | p.P977= | Synonymous | 14/20 | - | 1 |
| 7-94898626-G-C | c.2931G>C | p.P977= | Synonymous | 14/20 | - | 1 |
| 7-94898626-G-T | c.2931G>T | p.P977= | Synonymous | 14/20 | - | 1 |
| 7-94898630-G-A | c.2935G>A | p.D979N | Missense | 14/20 | - | 1 |
| 7-94898639-G-A | c.2944G>A | p.V982M | Missense | 14/20 | - | 1 |
| 7-94898642-C-T | c.2947C>T | p.P983S | Missense | 14/20 | - | 1 |
| 7-94898643-C-T | c.2948C>T | p.P983L | Missense | 14/20 | - | 1 |
| 7-94898653-T-C | c.2958T>C | p.S986= | Synonymous | 14/20 | - | 2 |
| 7-94898654-G-A | c.2959G>A | p.D987N | Missense | 14/20 | - | 3 |
| 7-94898675-G-A | c.2980G>A | p.E994K | Missense | 14/20 | - | 1 |
| 7-94898675-G-T | c.2980G>T | p.E994* | Nonsense | 14/20 | - | 1 |
| 7-94898679-A-G | c.2984A>G | p.E995G | Missense | 14/20 | - | 1 |
| 7-94898693-G-T | c.2998G>T | p.E1000* | Nonsense | 14/20 | - | 1 |
| 7-94898693-G-GA | c.3001dup | p.M1001Nfs*20 | Frameshift | 14/20 | - | 1 |
| 7-94898698-G-A | c.3003G>A | p.M1001I | Missense | 14/20 | - | 1 |
| 7-94898698-G-C | c.3003G>C | p.M1001I | Missense | 14/20 | - | 1 |
| 7-94898698-G-T | c.3003G>T | p.M1001I | Missense | 14/20 | - | 1 |
| 7-94898699-G-T | c.3004G>T | p.G1002W | Missense | 14/20 | - | 1 |
| 7-94898718-G-A | c.3023G>A | p.W1008* | Nonsense | 14/20 | - | 2 |
| 7-94898718-G-T | c.3023G>T | p.W1008L | Missense | 14/20 | - | 1 |
| 7-94898719-G-A | c.3024G>A | p.W1008* | Nonsense | 14/20 | - | 2 |
| 7-94898723-G-T | c.3028G>T | p.D1010Y | Missense | 14/20 | - | 1 |
| 7-94898726-A-T | c.3031A>T | p.T1011S | Missense | 14/20 | - | 1 |
| 7-94898732-C-T | c.3037C>T | p.L1013= | Synonymous | 14/20 | - | 1 |
| 7-94898734-G-A | c.3039G>A | p.L1013= | Synonymous | 14/20 | - | 1 |
| 7-94898734-G-C | c.3039G>C | p.L1013= | Synonymous | 14/20 | - | 1 |
| 7-94898734-G-T | c.3039G>T | p.L1013= | Synonymous | 14/20 | - | 1 |
| 7-94898745-C-A | c.3050C>A | p.S1017* | Nonsense | 14/20 | - | 1 |
| 7-94898745-C-G | c.3050C>G | p.S1017* | Nonsense | 14/20 | - | 1 |
| 7-94898745-C-T | c.3050C>T | p.S1017L | Missense | 14/20 | - | 1 |
| 7-94898748-A-G | c.3053A>G | p.K1018R | Missense | 14/20 | - | 1 |
| 7-94898753-G-T | c.3058G>T | p.D1020Y | Missense | 14/20 | - | 1 |
| 7-94898765-G-A | c.3070G>A | p.E1024K | Missense | 14/20 | - | 4 |
| 7-94898775-C-G | c.3080C>G | p.P1027R | Missense | 14/20 | - | 2 |
| 7-94898788-A-G | c.3093A>G | p.Q1031= | Synonymous | 14/20 | - | 1 |
| 7-94898790-C-T | c.3095C>T | p.T1032I | Missense | 14/20 | - | 1 |
| 7-94898811-G-A | c.3116G>A | p.R1039Q | Missense | 14/20 | - | 30 |
| 7-94898811-G-C | c.3116G>C | p.R1039P | Missense | 14/20 | - | 11 |
| 7-94898819-G-T | c.3124G>T | p.D1042Y | Missense | 14/20 | - | 1 |
| 7-94898839-C-A | c.3124+20C>A | - | IntronicSNV | - | 14/19 | 1 |
| 7-94899918-G-C | c.3124+1099G>C | - | IntronicSNV | - | 14/19 | 1 |
| 7-94900949-G-C | c.3124+2130G>C | - | IntronicSNV | - | 14/19 | 1 |
| 7-94903216-TG-T | c.3130del | p.A1044Pfs*7 | Frameshift | 15/20 | - | 1 |
| 7-94903223-A-C | c.3137A>C | p.D1046A | Missense | 15/20 | - | 1 |
| 7-94903226-C-T | c.3140C>T | p.P1047L | Missense | 15/20 | - | 1 |
| 7-94903235-T-G | c.3149T>G | p.L1050R | Missense | 15/20 | - | 2 |
| 7-94903237-A-T | c.3151A>T | p.R1051W | Missense | 15/20 | - | 2 |
| 7-94903240-G-A | c.3154G>A | p.A1052T | Missense | 15/20 | - | 1 |
| 7-94903246-A-C | c.3160A>C | p.S1054R | Missense | 15/20 | - | 1 |
| 7-94903247-G-T | c.3161G>T | p.S1054I | Missense | 15/20 | - | 1 |
| 7-94903250-CA-TT | c.3164_3165delinsTT | p.S1055F | Missense | 15/20 | - | 1 |
| 7-94903256-C-T | c.3170C>T | p.A1057V | Missense | 15/20 | - | 4 |
| 7-94903257-G-A | c.3171G>A | p.A1057= | Synonymous | 15/20 | - | 1 |
| 7-94903258-G-A | c.3172G>A | p.V1058M | Missense | 15/20 | - | 1 |
| 7-94903259-T-G | c.3173T>G | p.V1058G | Missense | 15/20 | - | 1 |
| 7-94903261-C-T | c.3175C>T | p.Q1059* | Nonsense | 15/20 | - | 3 |
| 7-94903268-G-A | c.3182G>A | p.G1061E | Missense | 15/20 | - | 2 |
| 7-94903273-A-C | c.3187A>C | p.I1063L | Missense | 15/20 | - | 1 |
| 7-94903274-T-A | c.3188T>A | p.I1063N | Missense | 15/20 | - | 1 |
| 7-94903279-C-T | c.3193C>T | p.R1065W | Missense | 15/20 | - | 2 |
| 7-94903298-G-C | c.3212G>C | p.G1071A | Missense | 15/20 | - | 1 |
| 7-94903303-G-A | c.3212+5G>A | - | IntronicSNV | - | 15/19 | 1 |
| 7-94903376-G-T | c.3213-21G>T | - | IntronicSNV | - | 15/19 | 1 |
| 7-94903399-C-T | c.3215C>T | p.A1072V | Missense | 16/20 | - | 2 |
| 7-94903400-G-A | c.3216G>A | p.A1072= | Synonymous | 16/20 | - | 1 |
| 7-94903400-G-C | c.3216G>C | p.A1072= | Synonymous | 16/20 | - | 1 |
| 7-94903400-G-T | c.3216G>T | p.A1072= | Synonymous | 16/20 | - | 1 |
| 7-94903403-T-C | c.3219T>C | p.P1073= | Synonymous | 16/20 | - | 1 |
| 7-94903407-C-T | c.3223C>T | p.R1075* | Nonsense | 16/20 | - | 2 |
| 7-94903408-G-A | c.3224G>A | p.R1075Q | Missense | 16/20 | - | 1 |
| 7-94903408-G-C | c.3224G>C | p.R1075P | Missense | 16/20 | - | 1 |
| 7-94903413-A-G | c.3229A>G | p.N1077D | Missense | 16/20 | - | 1 |
| 7-94903418-C-G | c.3234C>G | p.S1078= | Synonymous | 16/20 | - | 2 |
| 7-94903418-C-T | c.3234C>T | p.S1078= | Synonymous | 16/20 | - | 1 |
| 7-94903420-G-A | c.3236G>A | p.S1079N | Missense | 16/20 | - | 12 |
| 7-94903423-A-G | c.3239A>G | p.K1080R | Missense | 16/20 | - | 1 |
| 7-94903426-G-A | c.3242G>A | p.G1081E | Missense | 16/20 | - | 1 |
| 7-94903429-A-G | c.3245A>G | p.K1082R | Missense | 16/20 | - | 1 |
| 7-94903433-G-T | c.3249G>T | p.K1083N | Missense | 16/20 | - | 1 |
| 7-94903438-A-C | c.3254A>C | p.K1085T | Missense | 16/20 | - | 1 |
| 7-94903440-G-C | c.3256G>C | p.E1086Q | Missense | 16/20 | - | 1 |
| 7-94903446-G-T | c.3262G>T | p.E1088* | Nonsense | 16/20 | - | 1 |
| 7-94903450-A-T | c.3266A>T | p.K1089I | Missense | 16/20 | - | 2 |
| 7-94903456-C-G | c.3272C>G | p.A1091G | Missense | 16/20 | - | 1 |
| 7-94903456-C-T | c.3272C>T | p.A1091V | Missense | 16/20 | - | 1 |
| 7-94903461-A-G | c.3277A>G | p.R1093G | Missense | 16/20 | - | 1 |
| 7-94903464-T-C | c.3280T>C | p.F1094L | Missense | 16/20 | - | 2 |
| 7-94903466-T-A | c.3282T>A | p.F1094L | Missense | 16/20 | - | 2 |
| 7-94903466-T-G | c.3282T>G | p.F1094L | Missense | 16/20 | - | 2 |
| 7-94903468-C-A | c.3284C>A | p.S1095Y | Missense | 16/20 | - | 1 |
| 7-94903468-C-T | c.3284C>T | p.S1095F | Missense | 16/20 | - | 2 |
| 7-94903477-G-A | c.3293G>A | p.S1098N | Missense | 16/20 | - | 5 |
| 7-94903480-G-T | c.3296G>T | p.R1099M | Missense | 16/20 | - | 1 |
| 7-94903652-A-G | c.3296+172A>G | - | IntronicSNV | - | 16/19 | 1 |
| 7-94909179-G-T | c.3297-4151G>T | - | IntronicSNV | - | 16/19 | 1 |
| 7-94909495-G-A | c.3297-3835G>A | - | IntronicSNV | - | 16/19 | 2 |
| 7-94913337-AGA-TGT | c.3304_3306delinsTGT | p.R1102C | Missense | 17/20 | - | 1 |
| 7-94913346-C-T | c.3313C>T | p.L1105= | Synonymous | 17/20 | - | 1 |
| 7-94913348-G-A | c.3315G>A | p.L1105= | Synonymous | 17/20 | - | 1 |
| 7-94913348-G-C | c.3315G>C | p.L1105= | Synonymous | 17/20 | - | 1 |
| 7-94913348-G-T | c.3315G>T | p.L1105= | Synonymous | 17/20 | - | 1 |
| 7-94913350-A-G | c.3317A>G | p.E1106G | Missense | 17/20 | - | 1 |
| 7-94913352-A-T | c.3319A>T | p.N1107Y | Missense | 17/20 | - | 1 |
| 7-94913356-G-T | c.3323G>T | p.W1108L | Missense | 17/20 | - | 1 |
| 7-94913361-C-T | c.3328C>T | p.P1110S | Missense | 17/20 | - | 1 |
| 7-94913367-C-T | c.3334C>T | p.P1112S | Missense | 17/20 | - | 1 |
| 7-94913374-CA-TT | c.3341_3342delinsTT | p.S1114F | Missense | 17/20 | - | 1 |
| 7-94913382-C-T | c.3349C>T | p.Q1117* | Nonsense | 17/20 | - | 1 |
| 7-94913394-C-T | c.3361C>T | p.R1121C | Missense | 17/20 | - | 1 |
| 7-94913395-G-A | c.3362G>A | p.R1121H | Missense | 17/20 | - | 1 |
| 7-94913403-TG-GC | c.3370_3371delinsGC | p.C1124A | Missense | 17/20 | - | 1 |
| 7-94913407-T-C | c.3374T>C | p.M1125T | Missense | 17/20 | - | 6 |
| 7-94913425-A-C | c.3392A>C | p.N1131T | Missense | 17/20 | - | 1 |
| 7-94913427-G-A | c.3394G>A | p.D1132N | Missense | 17/20 | - | 1 |
| 7-94913429-C-A | c.3396C>A | p.D1132E | Missense | 17/20 | - | 1 |
| 7-94913429-C-G | c.3396C>G | p.D1132E | Missense | 17/20 | - | 1 |
| 7-94913432-C-T | c.3399C>T | p.S1133= | Synonymous | 17/20 | - | 1 |
| 7-94913433-C-T | c.3400C>T | p.R1134W | Missense | 17/20 | - | 3 |
| 7-94913439-G-A | c.3406G>A | p.G1136R | Missense | 17/20 | - | 1 |
| 7-94913439-G-C | c.3406G>C | p.G1136R | Missense | 17/20 | - | 1 |
| 7-94913443-C-T | c.3410C>T | p.S1137F | Missense | 17/20 | - | 1 |
| 7-94913446-A-G | c.3413A>G | p.Y1138C | Missense | 17/20 | - | 1 |
| 7-94913459-C-T | c.3426C>T | p.N1142= | Synonymous | 17/20 | - | 1 |
| 7-94913460-C-T | c.3427C>T | p.L1143= | Synonymous | 17/20 | - | 1 |
| 7-94913466-G-T | c.3433G>T | p.A1145S | Missense | 17/20 | - | 1 |
| 7-94913469-C-T | c.3436C>T | p.P1146S | Missense | 17/20 | - | 1 |
| 7-94913481-C-A | c.3448C>A | p.L1150I | Missense | 17/20 | - | 2 |
| 7-94913481-C-G | c.3448C>G | p.L1150V | Missense | 17/20 | - | 1 |
| 7-94913490-TC-AA | c.3457_3458delinsAA | p.S1153N | Missense | 17/20 | - | 1 |
| 7-94913495-T-C | c.3462T>C | p.P1154= | Synonymous | 17/20 | - | 1 |
| 7-94913498-G-A | c.3465G>A | p.E1155= | Synonymous | 17/20 | - | 1 |
| 7-94913510-A-C | c.3477A>C | p.S1159= | Synonymous | 17/20 | - | 2 |
| 7-94913521-G-C | c.3488G>C | p.G1163A | Missense | 17/20 | - | 1 |
| 7-94913522-G-A | c.3489G>A | p.G1163= | Synonymous | 17/20 | - | 2 |
| 7-94913522-G-C | c.3489G>C | p.G1163= | Synonymous | 17/20 | - | 1 |
| 7-94913522-G-T | c.3489G>T | p.G1163= | Synonymous | 17/20 | - | 1 |
| 7-94913528-G-T | c.3495G>T | p.K1165N | Missense | 17/20 | - | 1 |
| 7-94913532-AG-A | c.3499del | p.E1167Kfs*30 | Frameshift | 17/20 | - | 1 |
| 7-94913532-G-C | c.3499G>C | p.E1167Q | Missense | 17/20 | - | 1 |
| 7-94913551-A-G | c.3518A>G | p.K1173R | Missense | 17/20 | - | 1 |
| 7-94913552-A-C | c.3519A>C | p.K1173N | Missense | 17/20 | - | 1 |
| 7-94913558-C-G | c.3525C>G | p.N1175K | Missense | 17/20 | - | 1 |
| 7-94913559-A-G | c.3526A>G | p.K1176E | Missense | 17/20 | - | 1 |
| 7-94913562-AGA-TGG | c.3529_3531delinsTGG | p.R1177W | Missense | 17/20 | - | 1 |
| 7-94913563-G-A | c.3530G>A | p.R1177K | Missense | 17/20 | - | 1 |
| 7-94913564-A-C | c.3531A>C | p.R1177S | Missense | 17/20 | - | 1 |
| 7-94913568-C-T | c.3535C>T | p.P1179S | Missense | 17/20 | - | 1 |
| 7-94913575-C-T | c.3542C>T | p.P1181L | Missense | 17/20 | - | 1 |
| 7-94913578-C-T | c.3545C>T | p.S1182F | Missense | 17/20 | - | 1 |
| 7-94913587-C-A | c.3554C>A | p.S1185* | Nonsense | 17/20 | - | 1 |
| 7-94913587-C-G | c.3554C>G | p.S1185* | Nonsense | 17/20 | - | 1 |
| 7-94913589-A-G | c.3556A>G | p.I1186V | Missense | 17/20 | - | 1 |
| 7-94913593-T-G | c.3560T>G | p.F1187C | Missense | 17/20 | - | 1 |
| 7-94913595-G-A | c.3562G>A | p.G1188R | Missense | 17/20 | - | 1 |
| 7-94913595-G-C | c.3562G>C | p.G1188R | Missense | 17/20 | - | 1 |
| 7-94913596-G-A | c.3563G>A | p.G1188E | Missense | 17/20 | - | 2 |
| 7-94913596-G-C | c.3563G>C | p.G1188A | Missense | 17/20 | - | 1 |
| 7-94913605-C-A | c.3572C>A | p.S1191Y | Missense | 17/20 | - | 1 |
| 7-94913607-C-T | c.3574C>T | p.Q1192* | Nonsense | 17/20 | - | 1 |
| 7-94913610-C-T | c.3577C>T | p.L1193F | Missense | 17/20 | - | 1 |
| 7-94913617-C-T | c.3584C>T | p.S1195F | Missense | 17/20 | - | 1 |
| 7-94913617-TC-T | c.3584del | p.S1195Lfs*2 | Frameshift | 17/20 | - | 1 |
| 7-94913618-T-C | c.3585T>C | p.S1195= | Synonymous | 17/20 | - | 1 |
| 7-94913621-A-T | c.3588A>T | p.V1196= | Synonymous | 17/20 | - | 1 |
| 7-94913629-T-C | c.3596T>C | p.I1199T | Missense | 17/20 | - | 1 |
| 7-94913910-T-C | c.3609+268T>C | - | IntronicSNV | - | 17/19 | 1 |
| 7-94915524-A-T | c.3616A>T | p.T1206S | Missense | 18/20 | - | 1 |
| 7-94915526-C-A | c.3618C>A | p.T1206= | Synonymous | 18/20 | - | 1 |
| 7-94915526-C-G | c.3618C>G | p.T1206= | Synonymous | 18/20 | - | 1 |
| 7-94915526-C-T | c.3618C>T | p.T1206= | Synonymous | 18/20 | - | 1 |
| 7-94915531-A-G | c.3623A>G | p.N1208S | Missense | 18/20 | - | 1 |
| 7-94915543-G-A | c.3635G>A | p.S1212N | Missense | 18/20 | - | 1 |
| 7-94915546-C-T | c.3638C>T | p.P1213L | Missense | 18/20 | - | 1 |
| 7-94915548-A-T | c.3640A>T | p.S1214C | Missense | 18/20 | - | 1 |
| 7-94915550-C-G | c.3642C>G | p.S1214R | Missense | 18/20 | - | 1 |
| 7-94915566-G-A | c.3658G>A | p.D1220N | Missense | 18/20 | - | 1 |
| 7-94915573-G-A | c.3665G>A | p.S1222N | Missense | 18/20 | - | 1 |
| 7-94915575-G-T | c.3667G>T | p.G1223C | Missense | 18/20 | - | 1 |
| 7-94915576-G-C | c.3668G>C | p.G1223A | Missense | 18/20 | - | 1 |
| 7-94915578-T-A | c.3670T>A | p.L1224I | Missense | 18/20 | - | 1 |
| 7-94915578-T-C | c.3670T>C | p.L1224= | Synonymous | 18/20 | - | 4 |
| 7-94915580-A-G | c.3672A>G | p.L1224= | Synonymous | 18/20 | - | 4 |
| 7-94915581-G-A | c.3673G>A | p.G1225R | Missense | 18/20 | - | 1 |
| 7-94915581-G-C | c.3673G>C | p.G1225R | Missense | 18/20 | - | 1 |
| 7-94915584-G-A | c.3676G>A | p.A1226T | Missense | 18/20 | - | 1 |
| 7-94915590-C-G | c.3682C>G | p.P1228A | Missense | 18/20 | - | 1 |
| 7-94915591-C-A | c.3683C>A | p.P1228H | Missense | 18/20 | - | 1 |
| 7-94915596-A-G | c.3688A>G | p.T1230A | Missense | 18/20 | - | 1 |
| 7-94915599-C-T | c.3691C>T | p.P1231S | Missense | 18/20 | - | 1 |
| 7-94915605-C-T | c.3697C>T | p.L1233F | Missense | 18/20 | - | 1 |
| 7-94915607-C-T | c.3699C>T | p.L1233= | Synonymous | 18/20 | - | 1 |
| 7-94915615-C-A | c.3707C>A | p.S1236Y | Missense | 18/20 | - | 1 |
| 7-94915619-A-C | c.3711A>C | p.L1237F | Missense | 18/20 | - | 2 |
| 7-94915619-A-T | c.3711A>T | p.L1237F | Missense | 18/20 | - | 1 |
| 7-94916413-C-T | c.3729+776C>T | - | IntronicSNV | - | 18/19 | 1 |
| 7-94917122-C-T | c.3730-726C>T | - | IntronicSNV | - | 18/19 | 1 |
| 7-94917830-G-A | c.3730-18G>A | - | IntronicSNV | - | 18/19 | 1 |
| 7-94917830-G-C | c.3730-18G>C | - | IntronicSNV | - | 18/19 | 1 |
| 7-94917854-G-A | c.3736G>A | p.D1246N | Missense | 19/20 | - | 2 |
| 7-94917859-T-C | c.3741T>C | p.D1247= | Synonymous | 19/20 | - | 1 |
| 7-94917865-G-A | c.3747G>A | p.Q1249= | Synonymous | 19/20 | - | 2 |
| 7-94917879-G-A | c.3761G>A | p.S1254N | Missense | 19/20 | - | 1 |
| 7-94917876-ACAGT-A | c.3763_3766del | p.Q1255Vfs*18 | Frameshift | 19/20 | - | 1 |
| 7-94917887-C-T | c.3769C>T | p.Q1257* | Nonsense | 19/20 | - | 2 |
| 7-94917888-A-G | c.3770A>G | p.Q1257R | Missense | 19/20 | - | 3 |
| 7-94917893-C-A | c.3775C>A | p.R1259= | Synonymous | 19/20 | - | 1 |
| 7-94917893-C-T | c.3775C>T | p.R1259W | Missense | 19/20 | - | 3 |
| 7-94917895-G-C | c.3777G>C | p.R1259= | Synonymous | 19/20 | - | 1 |
| 7-94917895-G-T | c.3777G>T | p.R1259= | Synonymous | 19/20 | - | 1 |
| 7-94917894-G-A | c.3776G>A | p.R1259Q | Missense | 19/20 | - | 6 |
| 7-94917895-G-A | c.3777G>A | p.R1259= | Synonymous | 19/20 | - | 2 |
| 7-94917897-C-A | c.3779C>A | p.A1260D | Missense | 19/20 | - | 1 |
| 7-94917897-C-T | c.3779C>T | p.A1260V | Missense | 19/20 | - | 1 |
| 7-94917899-G-A | c.3781G>A | p.V1261I | Missense | 19/20 | - | 1 |
| 7-94917900-T-C | c.3782T>C | p.V1261A | Missense | 19/20 | - | 1 |
| 7-94917903-A-G | c.3785A>G | p.Q1262R | Missense | 19/20 | - | 1 |
| 7-94917904-G-C | c.3786G>C | p.Q1262H | Missense | 19/20 | - | 1 |
| 7-94917904-G-T | c.3786G>T | p.Q1262H | Missense | 19/20 | - | 1 |
| 7-94917905-G-A | c.3787G>A | p.E1263K | Missense | 19/20 | - | 3 |
| 7-94917914-GTG-ATC | c.3796_3798delinsATC | p.V1266I | Missense | 19/20 | - | 1 |
| 7-94917919-G-A | c.3801G>A | p.Q1267= | Synonymous | 19/20 | - | 1 |
| 7-94917920-C-A | c.3802C>A | p.Q1268K | Missense | 19/20 | - | 1 |
| 7-94917923-G-T | c.3805G>T | p.V1269F | Missense | 19/20 | - | 1 |
| 7-94917931-C-G | c.3813C>G | p.H1271Q | Missense | 19/20 | - | 1 |
| 7-94917933-G-A | c.3815G>A | p.W1272* | Nonsense | 19/20 | - | 1 |
| 7-94917934-G-A | c.3816G>A | p.W1272* | Nonsense | 19/20 | - | 1 |
| 7-94917940-G-A | c.3822G>A | p.M1274I | Missense | 19/20 | - | 1 |
| 7-94917940-G-C | c.3822G>C | p.M1274I | Missense | 19/20 | - | 1 |
| 7-94917940-G-T | c.3822G>T | p.M1274I | Missense | 19/20 | - | 1 |
| 7-94917942-G-T | c.3824G>T | p.S1275I | Missense | 19/20 | - | 1 |
| 7-94917953-G-C | c.3835G>C | p.E1279Q | Missense | 19/20 | - | 1 |
| 7-94917968-G-A | c.3850G>A | p.E1284K | Missense | 19/20 | - | 1 |
| 7-94917974-A-G | c.3856A>G | p.S1286G | Missense | 19/20 | - | 1 |
| 7-94917974-CA-C | c.3856del | p.S1286Vfs*23 | Frameshift | 19/20 | - | 1 |
| 7-94917980-C-T | c.3862C>T | p.Q1288* | Nonsense | 19/20 | - | 1 |
| 7-94917981-A-T | c.3863A>T | p.Q1288L | Missense | 19/20 | - | 1 |
| 7-94917985-C-G | c.3867C>G | p.N1289K | Missense | 19/20 | - | 1 |
| 7-94917986-A-T | c.3868A>T | p.I1290F | Missense | 19/20 | - | 1 |
| 7-94917995-G-C | c.3877G>C | p.E1293Q | Missense | 19/20 | - | 1 |
| 7-94917997-A-G | c.3879A>G | p.E1293= | Synonymous | 19/20 | - | 1 |
| 7-94917998-C-A | c.3880C>A | p.Q1294K | Missense | 19/20 | - | 1 |
| 7-94918001-C-A | c.3883C>A | p.L1295I | Missense | 19/20 | - | 1 |
| 7-94918003-C-A | c.3885C>A | p.L1295= | Synonymous | 19/20 | - | 1 |
| 7-94918003-C-G | c.3885C>G | p.L1295= | Synonymous | 19/20 | - | 1 |
| 7-94918003-C-T | c.3885C>T | p.L1295= | Synonymous | 19/20 | - | 1 |
| 7-94918016-G-A | c.3898G>A | p.G1300R | Missense | 19/20 | - | 1 |
| 7-94918016-G-C | c.3898G>C | p.G1300R | Missense | 19/20 | - | 1 |
| 7-94918017-G-A | c.3899G>A | p.G1300E | Missense | 19/20 | - | 1 |
| 7-94918030-G-A | c.3912G>A | p.K1304= | Synonymous | 19/20 | - | 1 |
| 7-94919406-C-G | c.3916C>G | p.L1306V | Missense | 20/20 | - | 1 |
| 7-94919430-C-T | c.3940C>T | p.R1314* | Nonsense | 20/20 | - | 2 |
| 7-94919431-G-A | c.3941G>A | p.R1314Q | Missense | 20/20 | - | 6 |
| 7-94919433-G-A | c.3943G>A | p.A1315T | Missense | 20/20 | - | 1 |
| 7-94919434-C-G | c.3944C>G | p.A1315G | Missense | 20/20 | - | 1 |
| 7-94919456-G-A | c.3966G>A | p.K1322= | Synonymous | 20/20 | - | 1 |
| 7-94919457-G-C | c.3967G>C | p.E1323Q | Missense | 20/20 | - | 1 |
| 7-94919462-G-A | c.3972G>A | p.M1324I | Missense | 20/20 | - | 1 |
| 7-94919462-G-C | c.3972G>C | p.M1324I | Missense | 20/20 | - | 1 |
| 7-94919462-G-T | c.3972G>T | p.M1324I | Missense | 20/20 | - | 1 |
| 7-94919465-G-A | c.3975G>A | p.K1325= | Synonymous | 20/20 | - | 1 |
| 7-94919472-C-T | c.3982C>T | p.L1328= | Synonymous | 20/20 | - | 1 |
| 7-94919474-A-C | c.3984A>C | p.L1328= | Synonymous | 20/20 | - | 1 |
| 7-94919475-G-C | c.3985G>C | p.E1329Q | Missense | 20/20 | - | 2 |
| 7-94919484-C-T | c.3994C>T | p.R1332W | Missense | 20/20 | - | 5 |
| 7-94919485-G-A | c.3995G>A | p.R1332Q | Missense | 20/20 | - | 1 |
| 7-94919489-G-A | c.3999G>A | p.K1333= | Synonymous | 20/20 | - | 1 |
| 7-94919490-G-A | c.4000G>A | p.A1334T | Missense | 20/20 | - | 1 |
| 7-94919490-G-T | c.4000G>T | p.A1334S | Missense | 20/20 | - | 1 |
| 7-94919498-G-A | c.4008G>A | p.E1336= | Synonymous | 20/20 | - | 1 |
| 7-94919498-G-T | c.4008G>T | p.E1336D | Missense | 20/20 | - | 1 |
| 7-94919500-A-T | c.4010A>T | p.K1337I | Missense | 20/20 | - | 1 |
| 7-94919501-A-C | c.4011A>C | p.K1337N | Missense | 20/20 | - | 1 |
| 7-94919504-G-A | c.4014G>A | p.M1338I | Missense | 20/20 | - | 2 |
| 7-94919504-G-C | c.4014G>C | p.M1338I | Missense | 20/20 | - | 1 |
| 7-94919504-G-T | c.4014G>T | p.M1338I | Missense | 20/20 | - | 1 |
| 7-94919505-G-A | c.4015G>A | p.E1339K | Missense | 20/20 | - | 2 |
| 7-94919507-A-C | c.4017A>C | p.E1339D | Missense | 20/20 | - | 1 |
| 7-94919508-A-T | c.4018A>T | p.K1340* | Nonsense | 20/20 | - | 1 |
| 7-94919511-C-A | c.4021C>A | p.Q1341K | Missense | 20/20 | - | 2 |
| 7-94919512-A-G | c.4022A>G | p.Q1341R | Missense | 20/20 | - | 1 |
| 7-94919521-A-G | c.4031A>G | p.K1344R | Missense | 20/20 | - | 1 |
| 7-94919523-C-T | c.4033C>T | p.L1345= | Synonymous | 20/20 | - | 3 |
| 7-94919525-A-C | c.4035A>C | p.L1345= | Synonymous | 20/20 | - | 3 |
| 7-94919525-A-G | c.4035A>G | p.L1345= | Synonymous | 20/20 | - | 8 |
| 7-94919525-A-T | c.4035A>T | p.L1345= | Synonymous | 20/20 | - | 3 |
| 7-94919528-G-A | c.4038G>A | p.R1346= | Synonymous | 20/20 | - | 1 |
| 7-94919529-A-G | c.4039A>G | p.R1347G | Missense | 20/20 | - | 1 |
| 7-94919529-AGA-TGT | c.4039_4041delinsTGT | p.R1347C | Missense | 20/20 | - | 1 |
| 7-94919532-A-G | c.4042A>G | p.K1348E | Missense | 20/20 | - | 1 |
| 7-94919533-A-C | c.4043A>C | p.K1348T | Missense | 20/20 | - | 1 |
| 7-94919541-G-A | c.4051G>A | p.E1351K | Missense | 20/20 | - | 1 |
| 7-94919541-G-T | c.4051G>T | p.E1351* | Nonsense | 20/20 | - | 2 |
| 7-94919550-C-G | c.4060C>G | p.Q1354E | Missense | 20/20 | - | 1 |
| 7-94919550-C-T | c.4060C>T | p.Q1354* | Nonsense | 20/20 | - | 1 |
| 7-94919555-G-A | c.4065G>A | p.R1355= | Synonymous | 20/20 | - | 1 |
| 7-94919560-C-A | c.4070C>A | p.S1357Y | Missense | 20/20 | - | 1 |
| 7-94919563-A-G | c.4073A>G | p.K1358R | Missense | 20/20 | - | 1 |
| 7-94919570-A-C | c.4080A>C | p.T1360= | Synonymous | 20/20 | - | 1 |
| 7-94919570-A-G | c.4080A>G | p.T1360= | Synonymous | 20/20 | - | 1 |
| 7-94919570-A-T | c.4080A>T | p.T1360= | Synonymous | 20/20 | - | 1 |
| 7-94919576-G-C | c.4086G>C | p.K1362N | Missense | 20/20 | - | 1 |
| 7-94919576-G-T | c.4086G>T | p.K1362N | Missense | 20/20 | - | 2 |
| 7-94919581-C-T | c.4091C>T | p.T1364M | Missense | 20/20 | - | 1 |
| 7-94919582-G-A | c.4092G>A | p.T1364= | Synonymous | 20/20 | - | 1 |
| 7-94919582-G-C | c.4092G>C | p.T1364= | Synonymous | 20/20 | - | 1 |
| 7-94919584-C-T | c.4094C>T | p.S1365L | Missense | 20/20 | - | 1 |
| 7-94919590-C-T | c.4100C>T | p.T1367I | Missense | 20/20 | - | 1 |
| 7-94919592-G-T | c.4102G>T | p.A1368S | Missense | 20/20 | - | 2 |
| 7-94919593-C-T | c.4103C>T | p.A1368V | Missense | 20/20 | - | 3 |
| 7-94919595-G-A | c.4105G>A | p.E1369K | Missense | 20/20 | - | 1 |
| 7-94919597-G-T | c.4107G>T | p.E1369D | Missense | 20/20 | - | 1 |
| 7-94919598-G-C | c.4108G>C | p.G1370R | Missense | 20/20 | - | 1 |
| 7-94919601-G-C | c.4111G>C | p.A1371P | Missense | 20/20 | - | 1 |
| 7-94919601-G-T | c.4111G>T | p.A1371S | Missense | 20/20 | - | 1 |
| 7-94919602-C-A | c.4112C>A | p.A1371D | Missense | 20/20 | - | 1 |
| 7-94919602-C-T | c.4112C>T | p.A1371V | Missense | 20/20 | - | 1 |
| 7-94920480-T-A | c.*865T>A | - | 3-UTRSNV | 20/20 | - | 4 |
| 7-94920480-T-C | c.*865T>C | - | 3-UTRSNV | 20/20 | - | 4 |
| 7-94920480-T-G | c.*865T>G | - | 3-UTRSNV | 20/20 | - | 4 |
| 7-94921491-G-A | c.*1876G>A | - | 3-UTRSNV | 20/20 | - | 4 |
| 7-94921543-C-A | c.*1928C>A | - | 3-UTRSNV | 20/20 | - | 4 |
| 7-94923391-T-A | c.*3776T>A | - | 3-UTRSNV | 20/20 | - | 5 |
| 7-94923391-T-C | c.*3776T>C | - | 3-UTRSNV | 20/20 | - | 5 |
| 7-94923590-C-T | c.*3975C>T | - | 3-UTRSNV | 20/20 | - | 2 |
| 7-94923764-A-C | c.*4149A>C | - | 3-UTRSNV | 20/20 | - | 3 |
| 7-94923764-A-G | c.*4149A>G | - | 3-UTRSNV | 20/20 | - | 3 |
| 7-94923856-G-A | c.*4241G>A | - | 3-UTRSNV | 20/20 | - | 10 |
| 7-94923856-G-C | c.*4241G>C | - | 3-UTRSNV | 20/20 | - | 10 |
| 7-94923856-G-T | c.*4241G>T | - | 3-UTRSNV | 20/20 | - | 10 |
| 7-94924538-G-T | c.*4923G>T | - | 3-UTRSNV | 20/20 | - | 3 |
| 7-94925304-C-G | c.*5689C>G | - | 3-UTRSNV | 20/20 | - | 3 |
| 7-94925614-C-A | c.*5999C>A | - | 3-UTRSNV | 20/20 | - | 5 |
| 7-94925614-C-T | c.*5999C>T | - | 3-UTRSNV | 20/20 | - | 5 |