Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
11-67351297-G-A | c.-18G>A | - | 5-UTRSNV | 1/7 | - | 12 |
11-67351315-A-G | c.1A>G | p.M1? | Missense | 1/7 | - | 3 |
11-67351529-A-AC | c.2-76_2-75insC | - | IntronicInsertion | - | 1/6 | 7 |
11-67351529-A-AT | c.2-76_2-75insT | - | IntronicInsertion | - | 1/6 | 7 |
11-67351530-G-GA | c.2-75_2-74insA | - | IntronicInsertion | - | 1/6 | 1 |
11-67351530-G-GC | c.2-75_2-74insC | - | IntronicInsertion | - | 1/6 | 1 |
11-67351530-G-GT | c.2-75_2-74insT | - | IntronicInsertion | - | 1/6 | 1 |
11-67351531-G-A | c.2-74G>A | - | IntronicSNV | - | 1/6 | 9 |
11-67351531-G-GA | c.2-74_2-73insA | - | IntronicInsertion | - | 1/6 | 1 |
11-67351531-G-GT | c.2-74_2-73insT | - | IntronicInsertion | - | 1/6 | 1 |
11-67351531-G-T | c.2-74G>T | - | IntronicSNV | - | 1/6 | 9 |
11-67351540-A-G | c.2-65A>G | - | IntronicSNV | - | 1/6 | 12 |
11-67351540-A-T | c.2-65A>T | - | IntronicSNV | - | 1/6 | 12 |
11-67351585-C-G | c.2-20C>G | - | IntronicSNV | - | 1/6 | 32 |
11-67351604-G-A | c.2-1G>A | - | IntronicSNV | - | 1/6 | 1 |
11-67351604-G-C | c.2-1G>C | - | IntronicSNV | - | 1/6 | 1 |
11-67351606-G-A | c.3G>A | p.M1? | Missense | 2/7 | - | 1 |
11-67351609-G-A | c.6G>A | p.P2= | Synonymous | 2/7 | - | 1 |
11-67351609-G-C | c.6G>C | p.P2= | Synonymous | 2/7 | - | 1 |
11-67351609-G-T | c.6G>T | p.P2= | Synonymous | 2/7 | - | 1 |
11-67351612-C-A | c.9C>A | p.P3= | Synonymous | 2/7 | - | 2 |
11-67351612-C-G | c.9C>G | p.P3= | Synonymous | 2/7 | - | 2 |
11-67351612-C-T | c.9C>T | p.P3= | Synonymous | 2/7 | - | 2 |
11-67351613-T-C | c.10T>C | p.Y4H | Missense | 2/7 | - | 1 |
11-67351618-C-T | c.15C>T | p.T5= | Synonymous | 2/7 | - | 1 |
11-67351619-G-A | c.16G>A | p.V6M | Missense | 2/7 | - | 1 |
11-67351622-G-A | c.19G>A | p.V7I | Missense | 2/7 | - | 1 |
11-67351624-C-G | c.21C>G | p.V7= | Synonymous | 2/7 | - | 4 |
11-67351626-A-G | c.23A>G | p.Y8C | Missense | 2/7 | - | 1 |
11-67351629-T-A | c.26T>A | p.F9Y | Missense | 2/7 | - | 2 |
11-67351631-C-T | c.28C>T | p.P10S | Missense | 2/7 | - | 1 |
11-67351632-C-T | c.29C>T | p.P10L | Missense | 2/7 | - | 1 |
11-67351634-G-A | c.31G>A | p.V11I | Missense | 2/7 | - | 1 |
11-67351637-C-G | c.34C>G | p.R12G | Missense | 2/7 | - | 2 |
11-67351637-C-T | c.34C>T | p.R12* | Nonsense | 2/7 | - | 2 |
11-67351638-G-A | c.35G>A | p.R12Q | Missense | 2/7 | - | 1 |
11-67351638-G-C | c.35G>C | p.R12P | Missense | 2/7 | - | 1 |
11-67351674-G-A | c.37+34G>A | - | IntronicSNV | - | 2/6 | 3 |
11-67351699-C-A | c.37+59C>A | - | IntronicSNV | - | 2/6 | 1 |
11-67351702-C-T | c.37+62C>T | - | IntronicSNV | - | 2/6 | 1 |
11-67351709-C-T | c.37+69C>T | - | IntronicSNV | - | 2/6 | 1 |
11-67351774-C-T | c.37+134C>T | - | IntronicSNV | - | 2/6 | 5 |
11-67351827-G-C | c.38-108G>C | - | IntronicSNV | - | 2/6 | 4 |
11-67351935-G-A | c.38G>A | p.G13D | Missense | 3/7 | - | 2 |
11-67351937-CGC-TGA | c.40_42delinsTGA | p.R14* | Nonsense | 3/7 | - | 1 |
11-67351937-C-T | c.40C>T | p.R14C | Missense | 3/7 | - | 1 |
11-67351940-TG-CA | c.43_44inv | p.C15H | Missense | 3/7 | - | 1 |
11-67351942-C-T | c.45C>T | p.C15= | Synonymous | 3/7 | - | 3 |
11-67351943-GCG-TAT | c.46_48delinsTAT | p.A16Y | Missense | 3/7 | - | 1 |
11-67351943-GC-TA | c.46_47delinsTA | p.A16* | Nonsense | 3/7 | - | 3 |
11-67351944-CG-AC | c.47_48delinsAC | p.A16D | Missense | 3/7 | - | 1 |
11-67351944-C-T | c.47C>T | p.A16V | Missense | 3/7 | - | 24 |
11-67351945-G-A | c.48G>A | p.A16= | Synonymous | 3/7 | - | 2 |
11-67351945-G-C | c.48G>C | p.A16= | Synonymous | 3/7 | - | 2 |
11-67351945-G-T | c.48G>T | p.A16= | Synonymous | 3/7 | - | 2 |
11-67351946-G-A | c.49G>A | p.A17T | Missense | 3/7 | - | 1 |
11-67351946-GC-AA | c.49_50delinsAA | p.A17N | Missense | 3/7 | - | 1 |
11-67351946-GCC-ATG | c.49_51delinsATG | p.A17M | Missense | 3/7 | - | 1 |
11-67351946-GCC-CAA | c.49_51delinsCAA | p.A17Q | Missense | 3/7 | - | 2 |
11-67351946-GC-TG | c.49_50delinsTG | p.A17C | Missense | 3/7 | - | 1 |
11-67351946-G-T | c.49G>T | p.A17S | Missense | 3/7 | - | 1 |
11-67351947-C-A | c.50C>A | p.A17D | Missense | 3/7 | - | 1 |
11-67351947-C-T | c.50C>T | p.A17V | Missense | 3/7 | - | 3 |
11-67351949-CT-GC | c.52_53delinsGC | p.L18A | Missense | 3/7 | - | 2 |
11-67351952-C-T | c.55C>T | p.R19C | Missense | 3/7 | - | 2 |
11-67351952-GCGC-G | c.55_57del | p.R19del | InFrameDeletion | 3/7 | - | 2 |
11-67351954-C-A | c.57C>A | p.R19= | Synonymous | 3/7 | - | 1 |
11-67351954-C-G | c.57C>G | p.R19= | Synonymous | 3/7 | - | 1 |
11-67351954-C-T | c.57C>T | p.R19= | Synonymous | 3/7 | - | 1 |
11-67351955-A-G | c.58A>G | p.M20V | Missense | 3/7 | - | 1 |
11-67351955-A-T | c.58A>T | p.M20L | Missense | 3/7 | - | 1 |
11-67351955-AT-GC | c.58_59delinsGC | p.M20A | Missense | 3/7 | - | 3 |
11-67351956-T-A | c.59T>A | p.M20K | Missense | 3/7 | - | 1 |
11-67351958-CTG-TTT | c.61_63delinsTTT | p.L21F | Missense | 3/7 | - | 1 |
11-67351959-T-G | c.62T>G | p.L21R | Missense | 3/7 | - | 1 |
11-67351961-C-A | c.64C>A | p.L22M | Missense | 3/7 | - | 1 |
11-67351964-GCA-ATG | c.67_69delinsATG | p.A23M | Missense | 3/7 | - | 1 |
11-67351964-G-T | c.67G>T | p.A23S | Missense | 3/7 | - | 5 |
11-67351965-C-G | c.68C>G | p.A23G | Missense | 3/7 | - | 7 |
11-67351965-C-T | c.68C>T | p.A23V | Missense | 3/7 | - | 1 |
11-67351966-A-C | c.69A>C | p.A23= | Synonymous | 3/7 | - | 1 |
11-67351966-A-G | c.69A>G | p.A23= | Synonymous | 3/7 | - | 1 |
11-67351966-A-T | c.69A>T | p.A23= | Synonymous | 3/7 | - | 1 |
11-67351970-C-G | c.73C>G | p.Q25E | Missense | 3/7 | - | 1 |
11-67351976-C-G | c.79C>G | p.Q27E | Missense | 3/7 | - | 2 |
11-67351977-A-G | c.80A>G | p.Q27R | Missense | 3/7 | - | 1 |
11-67351980-G-A | c.83G>A | p.S28N | Missense | 3/7 | - | 1 |
11-67351987-G-A | c.90G>A | p.K30= | Synonymous | 3/7 | - | 1 |
11-67351988-G-C | c.91G>C | p.E31Q | Missense | 3/7 | - | 1 |
11-67351991-G-A | c.94G>A | p.E32K | Missense | 3/7 | - | 1 |
11-67351992-A-G | c.95A>G | p.E32G | Missense | 3/7 | - | 1 |
11-67351992-A-T | c.95A>T | p.E32V | Missense | 3/7 | - | 4 |
11-67351995-T-C | c.98T>C | p.V33A | Missense | 3/7 | - | 1 |
11-67351997-G-C | c.100G>C | p.V34L | Missense | 3/7 | - | 1 |
11-67351997-G-T | c.100G>T | p.V34L | Missense | 3/7 | - | 1 |
11-67352000-A-T | c.103A>T | p.T35S | Missense | 3/7 | - | 1 |
11-67352001-C-G | c.104C>G | p.T35S | Missense | 3/7 | - | 1 |
11-67352002-C-A | c.105C>A | p.T35= | Synonymous | 3/7 | - | 1 |
11-67352004-T-C | c.107T>C | p.V36A | Missense | 3/7 | - | 1 |
11-67352006-G-C | c.109G>C | p.E37Q | Missense | 3/7 | - | 1 |
11-67352009-AC-GG | c.112_113delinsGG | p.T38G | Missense | 3/7 | - | 1 |
11-67352016-A-G | c.119A>G | p.Q40R | Missense | 3/7 | - | 1 |
11-67352015-CAGG-C | c.122_124del | p.E41del | InFrameDeletion | 3/7 | - | 1 |
11-67352019-A-G | c.122A>G | p.E41G | Missense | 3/7 | - | 1 |
11-67352019-GA-G | c.122del | p.E41Gfs*53 | Frameshift | 3/7 | - | 1 |
11-67352022-G-A | c.125G>A | p.G42D | Missense | 3/7 | - | 1 |
11-67352026-A-C | c.129A>C | p.S43= | Synonymous | 3/7 | - | 1 |
11-67352026-A-G | c.129A>G | p.S43= | Synonymous | 3/7 | - | 1 |
11-67352026-A-T | c.129A>T | p.S43= | Synonymous | 3/7 | - | 1 |
11-67352027-CTC-ATG | c.130_132delinsATG | p.L44M | Missense | 3/7 | - | 1 |
11-67352028-T-C | c.131T>C | p.L44P | Missense | 3/7 | - | 1 |
11-67352029-C-A | c.132C>A | p.L44= | Synonymous | 3/7 | - | 1 |
11-67352029-C-G | c.132C>G | p.L44= | Synonymous | 3/7 | - | 1 |
11-67352029-C-T | c.132C>T | p.L44= | Synonymous | 3/7 | - | 1 |
11-67352032-A-G | c.135A>G | p.K45= | Synonymous | 3/7 | - | 1 |
11-67352033-G-C | c.136G>C | p.A46P | Missense | 3/7 | - | 1 |
11-67352036-T-A | c.139T>A | p.S47T | Missense | 3/7 | - | 1 |
11-67352037-C-G | c.140C>G | p.S47C | Missense | 3/7 | - | 1 |
11-67352038-C-A | c.141C>A | p.S47= | Synonymous | 3/7 | - | 1 |
11-67352038-C-G | c.141C>G | p.S47= | Synonymous | 3/7 | - | 1 |
11-67352038-C-T | c.141C>T | p.S47= | Synonymous | 3/7 | - | 1 |
11-67352039-TG-AC | c.142_143delinsAC | p.C48T | Missense | 3/7 | - | 1 |
11-67352039-TG-CA | c.142_143inv | p.C48H | Missense | 3/7 | - | 1 |
11-67352040-G-T | c.143G>T | p.C48F | Missense | 3/7 | - | 1 |
11-67352041-C-T | c.144C>T | p.C48= | Synonymous | 3/7 | - | 2 |
11-67352042-G-GT | c.144+2dup | - | IntronicInsertion | - | 3/6 | 1 |
11-67352045-A-G | c.144+4A>G | - | IntronicSNV | - | 3/6 | 1 |
11-67352159-T-C | c.148T>C | p.Y50H | Missense | 4/7 | - | 2 |
11-67352161-C-G | c.150C>G | p.Y50* | Nonsense | 4/7 | - | 4 |
11-67352161-C-T | c.150C>T | p.Y50= | Synonymous | 4/7 | - | 5 |
11-67352162-G-A | c.151G>A | p.G51R | Missense | 4/7 | - | 1 |
11-67352162-G-C | c.151G>C | p.G51R | Missense | 4/7 | - | 1 |
11-67352162-GGG-AGC | c.151_153delinsAGC | p.G51S | Missense | 4/7 | - | 1 |
11-67352163-G-C | c.152G>C | p.G51A | Missense | 4/7 | - | 1 |
11-67352164-G-A | c.153G>A | p.G51= | Synonymous | 4/7 | - | 1 |
11-67352167-G-A | c.156G>A | p.Q52= | Synonymous | 4/7 | - | 2 |
11-67352167-G-GC | c.157dup | p.L53Pfs*43 | Frameshift | 4/7 | - | 1 |
11-67352169-TC-AA | c.158_159delinsAA | p.L53Q | Missense | 4/7 | - | 1 |
11-67352170-C-A | c.159C>A | p.L53= | Synonymous | 4/7 | - | 2 |
11-67352170-C-G | c.159C>G | p.L53= | Synonymous | 4/7 | - | 2 |
11-67352170-C-T | c.159C>T | p.L53= | Synonymous | 4/7 | - | 2 |
11-67352171-C-G | c.160C>G | p.P54A | Missense | 4/7 | - | 1 |
11-67352172-C-T | c.161C>T | p.P54L | Missense | 4/7 | - | 1 |
11-67352173-C-A | c.162C>A | p.P54= | Synonymous | 4/7 | - | 1 |
11-67352173-C-G | c.162C>G | p.P54= | Synonymous | 4/7 | - | 1 |
11-67352173-C-T | c.162C>T | p.P54= | Synonymous | 4/7 | - | 1 |
11-67352174-A-G | c.163A>G | p.K55E | Missense | 4/7 | - | 2 |
11-67352176-G-A | c.165G>A | p.K55= | Synonymous | 4/7 | - | 1 |
11-67352178-T-A | c.167T>A | p.F56Y | Missense | 4/7 | - | 1 |
11-67352180-C-A | c.169C>A | p.Q57K | Missense | 4/7 | - | 1 |
11-67352182-G-A | c.171G>A | p.Q57= | Synonymous | 4/7 | - | 1 |
11-67352183-G-A | c.172G>A | p.D58N | Missense | 4/7 | - | 4 |
11-67352185-C-T | c.174C>T | p.D58= | Synonymous | 4/7 | - | 2 |
11-67352186-G-A | c.175G>A | p.G59R | Missense | 4/7 | - | 2 |
11-67352186-G-C | c.175G>C | p.G59R | Missense | 4/7 | - | 1 |
11-67352186-GG-CT | c.175_176delinsCT | p.G59L | Missense | 4/7 | - | 1 |
11-67352189-G-T | c.178G>T | p.D60Y | Missense | 4/7 | - | 1 |
11-67352191-C-A | c.180C>A | p.D60E | Missense | 4/7 | - | 2 |
11-67352191-C-G | c.180C>G | p.D60E | Missense | 4/7 | - | 2 |
11-67352192-C-A | c.181C>A | p.L61I | Missense | 4/7 | - | 1 |
11-67352192-C-T | c.181C>T | p.L61F | Missense | 4/7 | - | 2 |
11-67352195-A-G | c.184A>G | p.T62A | Missense | 4/7 | - | 1 |
11-67352196-CC-TG | c.185_186delinsTG | p.T62M | Missense | 4/7 | - | 2 |
11-67352198-C-A | c.187C>A | p.L63M | Missense | 4/7 | - | 2 |
11-67352199-T-C | c.188T>C | p.L63P | Missense | 4/7 | - | 2 |
11-67352201-T-C | c.190T>C | p.Y64H | Missense | 4/7 | - | 2 |
11-67352201-T-G | c.190T>G | p.Y64D | Missense | 4/7 | - | 1 |
11-67352202-A-T | c.191A>T | p.Y64F | Missense | 4/7 | - | 1 |
11-67352206-G-A | c.195G>A | p.Q65= | Synonymous | 4/7 | - | 1 |
11-67352207-T-A | c.196T>A | p.S66T | Missense | 4/7 | - | 1 |
11-67352207-T-C | c.196T>C | p.S66P | Missense | 4/7 | - | 1 |
11-67352207-TC-AA | c.196_197delinsAA | p.S66N | Missense | 4/7 | - | 1 |
11-67352207-TC-CT | c.196_197delinsCT | p.S66L | Missense | 4/7 | - | 1 |
11-67352208-C-A | c.197C>A | p.S66Y | Missense | 4/7 | - | 2 |
11-67352208-C-T | c.197C>T | p.S66F | Missense | 4/7 | - | 2 |
11-67352210-A-G | c.199A>G | p.N67D | Missense | 4/7 | - | 1 |
11-67352211-A-C | c.200A>C | p.N67T | Missense | 4/7 | - | 2 |
11-67352211-A-T | c.200A>T | p.N67I | Missense | 4/7 | - | 1 |
11-67352212-T-C | c.201T>C | p.N67= | Synonymous | 4/7 | - | 1 |
11-67352213-A-T | c.202A>T | p.T68S | Missense | 4/7 | - | 4 |
11-67352214-C-G | c.203C>G | p.T68S | Missense | 4/7 | - | 7 |
11-67352216-A-G | c.205A>G | p.I69V | Missense | 4/7 | - | 1 |
11-67352219-C-A | c.208C>A | p.L70M | Missense | 4/7 | - | 1 |
11-67352220-T-C | c.209T>C | p.L70P | Missense | 4/7 | - | 1 |
11-67352222-C-G | c.211C>G | p.R71G | Missense | 4/7 | - | 1 |
11-67352222-C-T | c.211C>T | p.R71C | Missense | 4/7 | - | 1 |
11-67352223-G-A | c.212G>A | p.R71H | Missense | 4/7 | - | 2 |
11-67352225-C-T | c.214C>T | p.H72Y | Missense | 4/7 | - | 4 |
11-67352226-A-C | c.215A>C | p.H72P | Missense | 4/7 | - | 1 |
11-67352228-C-G | c.217C>G | p.L73V | Missense | 4/7 | - | 1 |
11-67352229-TG-T | c.221del | p.G74Afs*20 | Frameshift | 4/7 | - | 1 |
11-67352235-G-A | c.224G>A | p.R75H | Missense | 4/7 | - | 2 |
11-67352235-G-C | c.224G>C | p.R75P | Missense | 4/7 | - | 1 |
11-67352237-A-G | c.226A>G | p.T76A | Missense | 4/7 | - | 1 |
11-67352241-T-G | c.230T>G | p.L77R | Missense | 4/7 | - | 1 |
11-67352240-C-CT | c.231dup | p.G78Wfs*18 | SpliceDonorInsertion | 4/7 | - | 1 |
11-67352242-T-TA | c.231_232insA | p.G78Rfs*18 | SpliceDonorInsertion | 4/7 | - | 1 |
11-67352242-T-TC | c.231_232insC | p.G78Rfs*18 | SpliceDonorInsertion | 4/7 | - | 1 |
11-67352256-C-A | c.232+13C>A | - | IntronicSNV | - | 4/6 | 28 |
11-67352256-C-T | c.232+13C>T | - | IntronicSNV | - | 4/6 | 26 |
11-67352270-G-C | c.232+27G>C | - | IntronicSNV | - | 4/6 | 1 |
11-67352381-G-A | c.232+138G>A | - | IntronicSNV | - | 4/6 | 2 |
11-67352609-G-A | c.233G>A | p.G78E | Missense | 5/7 | - | 1 |
11-67352609-GG-AC | c.233_234delinsAC | p.G78D | Missense | 5/7 | - | 1 |
11-67352613-C-A | c.237C>A | p.L79= | Synonymous | 5/7 | - | 1 |
11-67352615-A-G | c.239A>G | p.Y80C | Missense | 5/7 | - | 2 |
11-67352622-G-T | c.246G>T | p.K82N | Missense | 5/7 | - | 1 |
11-67352623-G-A | c.247G>A | p.D83N | Missense | 5/7 | - | 1 |
11-67352623-GAC-AAG | c.247_249delinsAAG | p.D83K | Missense | 5/7 | - | 1 |
11-67352627-A-G | c.251A>G | p.Q84R | Missense | 5/7 | - | 1 |
11-67352628-G-A | c.252G>A | p.Q84= | Synonymous | 5/7 | - | 1 |
11-67352628-G-T | c.252G>T | p.Q84H | Missense | 5/7 | - | 1 |
11-67352631-G-A | c.255G>A | p.Q85= | Synonymous | 5/7 | - | 1 |
11-67352632-G-A | c.256G>A | p.E86K | Missense | 5/7 | - | 1 |
11-67352632-GA-AG | c.256_257delinsAG | p.E86R | Missense | 5/7 | - | 1 |
11-67352638-G-A | c.262G>A | p.A88T | Missense | 5/7 | - | 2 |
11-67352638-GCC-TGG | c.262_264delinsTGG | p.A88W | Missense | 5/7 | - | 1 |
11-67352638-GC-TA | c.262_263delinsTA | p.A88Y | Missense | 5/7 | - | 1 |
11-67352638-G-T | c.262G>T | p.A88S | Missense | 5/7 | - | 1 |
11-67352639-C-A | c.263C>A | p.A88D | Missense | 5/7 | - | 1 |
11-67352639-C-T | c.263C>T | p.A88V | Missense | 5/7 | - | 1 |
11-67352640-C-A | c.264C>A | p.A88= | Synonymous | 5/7 | - | 1 |
11-67352640-C-G | c.264C>G | p.A88= | Synonymous | 5/7 | - | 1 |
11-67352640-C-T | c.264C>T | p.A88= | Synonymous | 5/7 | - | 2 |
11-67352642-T-C | c.266T>C | p.L89P | Missense | 5/7 | - | 1 |
11-67352645-T-C | c.269T>C | p.V90A | Missense | 5/7 | - | 1 |
11-67352647-G-A | c.271G>A | p.D91N | Missense | 5/7 | - | 1 |
11-67352650-A-G | c.274A>G | p.M92V | Missense | 5/7 | - | 1 |
11-67352651-T-C | c.275T>C | p.M92T | Missense | 5/7 | - | 2 |
11-67352652-G-A | c.276G>A | p.M92I | Missense | 5/7 | - | 2 |
11-67352652-G-C | c.276G>C | p.M92I | Missense | 5/7 | - | 2 |
11-67352652-G-T | c.276G>T | p.M92I | Missense | 5/7 | - | 2 |
11-67352654-T-C | c.278T>C | p.V93A | Missense | 5/7 | - | 2 |
11-67352658-T-C | c.282T>C | p.N94= | Synonymous | 5/7 | - | 1 |
11-67352661-C-A | c.285C>A | p.D95E | Missense | 5/7 | - | 1 |
11-67352665-G-A | c.289G>A | p.V97M | Missense | 5/7 | - | 2 |
11-67352668-G-A | c.292G>A | p.E98K | Missense | 5/7 | - | 1 |
11-67352668-G-C | c.292G>C | p.E98Q | Missense | 5/7 | - | 1 |
11-67352670-AGGACCTCCGC-A | c.294_303del | p.E98Dfs*20 | Frameshift | 5/7 | - | 1 |
11-67352671-GAC-CAA | c.295_297delinsCAA | p.D99Q | Missense | 5/7 | - | 1 |
11-67352671-GA-CG | c.295_296delinsCG | p.D99R | Missense | 5/7 | - | 1 |
11-67352671-G-C | c.295G>C | p.D99H | Missense | 5/7 | - | 1 |
11-67352671-G-GAGAT | c.296_297insGATA | p.D99Efs*16 | Frameshift | 5/7 | - | 1 |
11-67352672-A-G | c.296A>G | p.D99G | Missense | 5/7 | - | 1 |
11-67352673-C-A | c.297C>A | p.D99E | Missense | 5/7 | - | 1 |
11-67352673-C-G | c.297C>G | p.D99E | Missense | 5/7 | - | 1 |
11-67352674-C-A | c.298C>A | p.L100I | Missense | 5/7 | - | 1 |
11-67352674-C-T | c.298C>T | p.L100F | Missense | 5/7 | - | 1 |
11-67352676-TCCGC-T | c.300_303del | p.R101Afs*19 | Frameshift | 5/7 | - | 1 |
11-67352678-G-A | c.302G>A | p.R101H | Missense | 5/7 | - | 3 |
11-67352680-T-G | c.304T>G | p.C102G | Missense | 5/7 | - | 1 |
11-67352682-C-T | c.306C>T | p.C102= | Synonymous | 5/7 | - | 1 |
11-67352685-A-C | c.309A>C | p.K103N | Missense | 5/7 | - | 1 |
11-67352685-A-G | c.309A>G | p.K103= | Synonymous | 5/7 | - | 1 |
11-67352685-A-T | c.309A>T | p.K103N | Missense | 5/7 | - | 1 |
11-67352689-A-C | c.313A>C | p.I105L | Missense | 5/7 | - | 1 |
11-67352689-A-G | c.313A>G | p.I105V | Missense | 5/7 | - | 947 |
11-67352689-AT-GC | c.313_314delinsGC | p.I105A | Missense | 5/7 | - | 2 |
11-67352691-C-A | c.315C>A | p.I105= | Synonymous | 5/7 | - | 19 |
11-67352691-C-T | c.315C>T | p.I105= | Synonymous | 5/7 | - | 20 |
11-67352693-C-T | c.317C>T | p.S106F | Missense | 5/7 | - | 1 |
11-67352692-TCC-T | c.318_319del | p.L107Hfs*6 | Frameshift | 5/7 | - | 1 |
11-67352694-C-A | c.318C>A | p.S106= | Synonymous | 5/7 | - | 1 |
11-67352694-C-G | c.318C>G | p.S106= | Synonymous | 5/7 | - | 1 |
11-67352694-C-T | c.318C>T | p.S106= | Synonymous | 5/7 | - | 2 |
11-67352695-C-A | c.319C>A | p.L107I | Missense | 5/7 | - | 1 |
11-67352695-C-G | c.319C>G | p.L107V | Missense | 5/7 | - | 1 |
11-67352697-C-A | c.321C>A | p.L107= | Synonymous | 5/7 | - | 1 |
11-67352697-C-G | c.321C>G | p.L107= | Synonymous | 5/7 | - | 1 |
11-67352697-C-T | c.321C>T | p.L107= | Synonymous | 5/7 | - | 1 |
11-67352698-A-G | c.322A>G | p.I108V | Missense | 5/7 | - | 2 |
11-67352698-A-T | c.322A>T | p.I108F | Missense | 5/7 | - | 2 |
11-67352704-A-T | c.328A>T | p.T110S | Missense | 5/7 | - | 2 |
11-67352705-C-G | c.329C>G | p.T110S | Missense | 5/7 | - | 5 |
11-67352706-C-A | c.330C>A | p.T110= | Synonymous | 5/7 | - | 1 |
11-67352706-C-CT | c.330_331insT | p.N111* | Nonsense | 5/7 | - | 1 |
11-67352710-T-G | c.334T>G | p.Y112D | Missense | 5/7 | - | 1 |
11-67352711-A-G | c.335A>G | p.Y112C | Missense | 5/7 | - | 4 |
11-67352712-T-C | c.336T>C | p.Y112= | Synonymous | 5/7 | - | 1 |
11-67352789-CCT-C | c.336+79_336+80del | - | IntronicDeletion | - | 5/6 | 1 |
11-67352798-G-C | c.336+86G>C | - | IntronicSNV | - | 5/6 | 1 |
11-67353033-G-A | c.336+321G>A | - | IntronicSNV | - | 5/6 | 1 |
11-67353133-T-C | c.336+421T>C | - | IntronicSNV | - | 5/6 | 1 |
11-67353150-A-G | c.337-425A>G | - | IntronicSNV | - | 5/6 | 2 |
11-67353253-G-A | c.337-322G>A | - | IntronicSNV | - | 5/6 | 23 |
11-67353353-A-G | c.337-222A>G | - | IntronicSNV | - | 5/6 | 1 |
11-67353381-A-C | c.337-194A>C | - | IntronicSNV | - | 5/6 | 1 |
11-67353381-A-T | c.337-194A>T | - | IntronicSNV | - | 5/6 | 1 |
11-67353577-G-C | c.339G>C | p.E113D | Missense | 6/7 | - | 1 |
11-67353577-G-T | c.339G>T | p.E113D | Missense | 6/7 | - | 1 |
11-67353578-G-A | c.340G>A | p.A114T | Missense | 6/7 | - | 3 |
11-67353579-C-T | c.341C>T | p.A114V | Missense | 6/7 | - | 273 |
11-67353580-G-A | c.342G>A | p.A114= | Synonymous | 6/7 | - | 2 |
11-67353580-G-C | c.342G>C | p.A114= | Synonymous | 6/7 | - | 2 |
11-67353580-G-T | c.342G>T | p.A114= | Synonymous | 6/7 | - | 2 |
11-67353582-G-A | c.344G>A | p.G115D | Missense | 6/7 | - | 3 |
11-67353582-G-T | c.344G>T | p.G115V | Missense | 6/7 | - | 1 |
11-67353584-A-G | c.346A>G | p.K116E | Missense | 6/7 | - | 2 |
11-67353586-G-A | c.348G>A | p.K116= | Synonymous | 6/7 | - | 1 |
11-67353589-T-A | c.351T>A | p.D117E | Missense | 6/7 | - | 1 |
11-67353589-T-G | c.351T>G | p.D117E | Missense | 6/7 | - | 1 |
11-67353590-G-A | c.352G>A | p.D118N | Missense | 6/7 | - | 4 |
11-67353590-G-T | c.352G>T | p.D118Y | Missense | 6/7 | - | 5 |
11-67353594-A-G | c.356A>G | p.Y119C | Missense | 6/7 | - | 1 |
11-67353594-A-T | c.356A>T | p.Y119F | Missense | 6/7 | - | 1 |
11-67353596-GTG-ATC | c.358_360delinsATC | p.V120I | Missense | 6/7 | - | 1 |
11-67353598-G-C | c.360G>C | p.V120= | Synonymous | 6/7 | - | 1 |
11-67353599-A-C | c.361A>C | p.K121Q | Missense | 6/7 | - | 2 |
11-67353601-G-A | c.363G>A | p.K121= | Synonymous | 6/7 | - | 1 |
11-67353602-GCA-TGT | c.364_366delinsTGT | p.A122C | Missense | 6/7 | - | 1 |
11-67353602-G-T | c.364G>T | p.A122S | Missense | 6/7 | - | 1 |
11-67353603-C-G | c.365C>G | p.A122G | Missense | 6/7 | - | 1 |
11-67353605-C-T | c.367C>T | p.L123= | Synonymous | 6/7 | - | 1 |
11-67353607-G-A | c.369G>A | p.L123= | Synonymous | 6/7 | - | 1 |
11-67353607-G-C | c.369G>C | p.L123= | Synonymous | 6/7 | - | 1 |
11-67353607-G-T | c.369G>T | p.L123= | Synonymous | 6/7 | - | 1 |
11-67353608-C-A | c.370C>A | p.P124T | Missense | 6/7 | - | 1 |
11-67353608-C-G | c.370C>G | p.P124A | Missense | 6/7 | - | 2 |
11-67353608-C-T | c.370C>T | p.P124S | Missense | 6/7 | - | 1 |
11-67353610-C-A | c.372C>A | p.P124= | Synonymous | 6/7 | - | 1 |
11-67353610-C-G | c.372C>G | p.P124= | Synonymous | 6/7 | - | 1 |
11-67353610-C-T | c.372C>T | p.P124= | Synonymous | 6/7 | - | 2 |
11-67353611-GGG-TGT | c.373_375delinsTGT | p.G125C | Missense | 6/7 | - | 1 |
11-67353612-G-A | c.374G>A | p.G125E | Missense | 6/7 | - | 1 |
11-67353612-G-T | c.374G>T | p.G125V | Missense | 6/7 | - | 1 |
11-67353616-A-C | c.378A>C | p.Q126H | Missense | 6/7 | - | 1 |
11-67353616-A-T | c.378A>T | p.Q126H | Missense | 6/7 | - | 1 |
11-67353617-C-T | c.379C>T | p.L127= | Synonymous | 6/7 | - | 1 |
11-67353619-G-A | c.381G>A | p.L127= | Synonymous | 6/7 | - | 1 |
11-67353619-G-C | c.381G>C | p.L127= | Synonymous | 6/7 | - | 1 |
11-67353619-G-T | c.381G>T | p.L127= | Synonymous | 6/7 | - | 1 |
11-67353622-G-A | c.384G>A | p.K128= | Synonymous | 6/7 | - | 1 |
11-67353623-C-T | c.385C>T | p.P129S | Missense | 6/7 | - | 1 |
11-67353624-C-T | c.386C>T | p.P129L | Missense | 6/7 | - | 3 |
11-67353630-A-G | c.392A>G | p.E131G | Missense | 6/7 | - | 1 |
11-67353635-C-A | c.397C>A | p.L133M | Missense | 6/7 | - | 1 |
11-67353638-C-T | c.400C>T | p.L134= | Synonymous | 6/7 | - | 4 |
11-67353640-G-A | c.402G>A | p.L134= | Synonymous | 6/7 | - | 2 |
11-67353640-G-C | c.402G>C | p.L134= | Synonymous | 6/7 | - | 2 |
11-67353640-G-T | c.402G>T | p.L134= | Synonymous | 6/7 | - | 2 |
11-67353642-C-T | c.404C>T | p.S135F | Missense | 6/7 | - | 1 |
11-67353644-C-T | c.406C>T | p.Q136* | Nonsense | 6/7 | - | 1 |
11-67353646-G-A | c.408G>A | p.Q136= | Synonymous | 6/7 | - | 2 |
11-67353649-C-A | c.411C>A | p.N137K | Missense | 6/7 | - | 1 |
11-67353652-G-A | c.414G>A | p.Q138= | Synonymous | 6/7 | - | 1 |
11-67353652-G-C | c.414G>C | p.Q138H | Missense | 6/7 | - | 3 |
11-67353652-G-T | c.414G>T | p.Q138H | Missense | 6/7 | - | 2 |
11-67353653-G-A | c.415G>A | p.G139R | Missense | 6/7 | - | 2 |
11-67353653-G-C | c.415G>C | p.G139R | Missense | 6/7 | - | 1 |
11-67353654-G-T | c.416G>T | p.G139V | Missense | 6/7 | - | 1 |
11-67353657-G-A | c.419G>A | p.G140D | Missense | 6/7 | - | 1 |
11-67353658-C-A | c.420C>A | p.G140= | Synonymous | 6/7 | - | 3 |
11-67353658-C-CTG | c.420_421insTG | p.K141* | Nonsense | 6/7 | - | 1 |
11-67353658-C-G | c.420C>G | p.G140= | Synonymous | 6/7 | - | 4 |
11-67353658-C-T | c.420C>T | p.G140= | Synonymous | 6/7 | - | 3 |
11-67353659-A-AGGCAGG | c.421_422insGGCAGG | p.K141delinsRQE | MultiAAMissense | 6/7 | - | 1 |
11-67353662-AC-TG | c.424_425delinsTG | p.T142C | Missense | 6/7 | - | 1 |
11-67353663-C-T | c.425C>T | p.T142I | Missense | 6/7 | - | 1 |
11-67353668-A-T | c.430A>T | p.I144F | Missense | 6/7 | - | 1 |
11-67353669-T-C | c.431T>C | p.I144T | Missense | 6/7 | - | 1 |
11-67353671-GTG-ATC | c.433_435delinsATC | p.V145I | Missense | 6/7 | - | 1 |
11-67353673-G-A | c.435G>A | p.V145= | Synonymous | 6/7 | - | 2 |
11-67353673-G-C | c.435G>C | p.V145= | Synonymous | 6/7 | - | 1 |
11-67353673-G-T | c.435G>T | p.V145= | Synonymous | 6/7 | - | 1 |
11-67353675-G-C | c.437G>C | p.G146A | Missense | 6/7 | - | 1 |
11-67353675-G-T | c.437G>T | p.G146V | Missense | 6/7 | - | 2 |
11-67353677-G-T | c.439G>T | p.D147Y | Missense | 6/7 | - | 14 |
11-67353680-CCAG-C | c.442_444del | p.Q148del | SpliceDonorDeletion | 6/7 | - | 1 |
11-67353682-G-A | c.444G>A | p.Q148= | Synonymous | 6/7 | - | 1 |
11-67353715-G-A | c.444+33G>A | - | IntronicSNV | - | 6/6 | 1 |
11-67353762-C-T | c.444+80C>T | - | IntronicSNV | - | 6/6 | 1 |
11-67353842-G-A | c.445-18G>A | - | IntronicSNV | - | 6/6 | 2 |
11-67353844-C-A | c.445-16C>A | - | IntronicSNV | - | 6/6 | 24 |
11-67353844-C-T | c.445-16C>T | - | IntronicSNV | - | 6/6 | 24 |
11-67353861-T-G | c.446T>G | p.I149S | Missense | 7/7 | - | 1 |
11-67353865-C-T | c.450C>T | p.S150= | Synonymous | 7/7 | - | 3 |
11-67353868-C-T | c.453C>T | p.F151= | Synonymous | 7/7 | - | 1 |
11-67353869-G-T | c.454G>T | p.A152S | Missense | 7/7 | - | 2 |
11-67353884-C-T | c.469C>T | p.L157= | Synonymous | 7/7 | - | 2 |
11-67353886-G-A | c.471G>A | p.L157= | Synonymous | 7/7 | - | 1 |
11-67353886-G-C | c.471G>C | p.L157= | Synonymous | 7/7 | - | 1 |
11-67353886-G-T | c.471G>T | p.L157= | Synonymous | 7/7 | - | 1 |
11-67353887-G-A | c.472G>A | p.D158N | Missense | 7/7 | - | 1 |
11-67353887-G-C | c.472G>C | p.D158H | Missense | 7/7 | - | 4 |
11-67353893-C-A | c.478C>A | p.L160M | Missense | 7/7 | - | 2 |
11-67353893-C-T | c.478C>T | p.L160= | Synonymous | 7/7 | - | 1 |
11-67353893-CTG-TTT | c.478_480delinsTTT | p.L160F | Missense | 7/7 | - | 1 |
11-67353894-TG-AT | c.479_480delinsAT | p.L160H | Missense | 7/7 | - | 1 |
11-67353896-C-T | c.481C>T | p.L161= | Synonymous | 7/7 | - | 1 |
11-67353898-G-T | c.483G>T | p.L161= | Synonymous | 7/7 | - | 2 |
11-67353901-C-G | c.486C>G | p.I162M | Missense | 7/7 | - | 1 |
11-67353901-C-T | c.486C>T | p.I162= | Synonymous | 7/7 | - | 1 |
11-67353902-C-T | c.487C>T | p.H163Y | Missense | 7/7 | - | 2 |
11-67353907-G-A | c.492G>A | p.E164= | Synonymous | 7/7 | - | 1 |
11-67353911-C-G | c.496C>G | p.L166V | Missense | 7/7 | - | 1 |
11-67353912-T-G | c.497T>G | p.L166R | Missense | 7/7 | - | 1 |
11-67353915-C-A | c.500C>A | p.A167D | Missense | 7/7 | - | 4 |
11-67353917-C-T | c.502C>T | p.P168S | Missense | 7/7 | - | 1 |
11-67353919-T-A | c.504T>A | p.P168= | Synonymous | 7/7 | - | 1 |
11-67353920-G-A | c.505G>A | p.G169S | Missense | 7/7 | - | 1 |
11-67353921-G-A | c.506G>A | p.G169D | Missense | 7/7 | - | 2 |
11-67353921-G-C | c.506G>C | p.G169A | Missense | 7/7 | - | 1 |
11-67353922-C-T | c.507C>T | p.G169= | Synonymous | 7/7 | - | 3 |
11-67353925-C-T | c.510C>T | p.C170= | Synonymous | 7/7 | - | 1 |
11-67353929-G-A | c.514G>A | p.D172N | Missense | 7/7 | - | 1 |
11-67353932-GC-TG | c.517_518delinsTG | p.A173W | Missense | 7/7 | - | 1 |
11-67353933-C-T | c.518C>T | p.A173V | Missense | 7/7 | - | 1 |
11-67353934-G-A | c.519G>A | p.A173= | Synonymous | 7/7 | - | 2 |
11-67353934-G-C | c.519G>C | p.A173= | Synonymous | 7/7 | - | 1 |
11-67353934-G-T | c.519G>T | p.A173= | Synonymous | 7/7 | - | 1 |
11-67353935-T-C | c.520T>C | p.F174L | Missense | 7/7 | - | 1 |
11-67353937-C-A | c.522C>A | p.F174L | Missense | 7/7 | - | 1 |
11-67353937-C-G | c.522C>G | p.F174L | Missense | 7/7 | - | 1 |
11-67353936-T-C | c.521T>C | p.F174S | Missense | 7/7 | - | 2 |
11-67353938-C-T | c.523C>T | p.P175S | Missense | 7/7 | - | 3 |
11-67353939-C-T | c.524C>T | p.P175L | Missense | 7/7 | - | 1 |
11-67353941-C-A | c.526C>A | p.L176M | Missense | 7/7 | - | 2 |
11-67353948-C-G | c.533C>G | p.S178* | Nonsense | 7/7 | - | 1 |
11-67353948-C-T | c.533C>T | p.S178L | Missense | 7/7 | - | 2 |
11-67353957-T-C | c.542T>C | p.V181A | Missense | 7/7 | - | 1 |
11-67353957-T-G | c.542T>G | p.V181G | Missense | 7/7 | - | 1 |
11-67353959-G-A | c.544G>A | p.G182R | Missense | 7/7 | - | 1 |
11-67353959-GG-AA | c.544_545delinsAA | p.G182K | Missense | 7/7 | - | 1 |
11-67353960-G-A | c.545G>A | p.G182E | Missense | 7/7 | - | 1 |
11-67353962-CGC-TGG | c.547_549delinsTGG | p.R183W | Missense | 7/7 | - | 1 |
11-67353963-G-A | c.548G>A | p.R183H | Missense | 7/7 | - | 7 |
11-67353963-G-C | c.548G>C | p.R183P | Missense | 7/7 | - | 2 |
11-67353964-C-A | c.549C>A | p.R183= | Synonymous | 7/7 | - | 3 |
11-67353964-C-G | c.549C>G | p.R183= | Synonymous | 7/7 | - | 2 |
11-67353964-C-T | c.549C>T | p.R183= | Synonymous | 7/7 | - | 2 |
11-67353967-C-T | c.552C>T | p.L184= | Synonymous | 7/7 | - | 1 |
11-67353968-A-C | c.553A>C | p.S185R | Missense | 7/7 | - | 1 |
11-67353970-T-A | c.555T>A | p.S185R | Missense | 7/7 | - | 1 |
11-67353970-T-C | c.555T>C | p.S185= | Synonymous | 7/7 | - | 46 |
11-67353970-T-G | c.555T>G | p.S185R | Missense | 7/7 | - | 1 |
11-67353971-G-A | c.556G>A | p.A186T | Missense | 7/7 | - | 3 |
11-67353972-C-T | c.557C>T | p.A186V | Missense | 7/7 | - | 2 |
11-67353974-C-A | c.559C>A | p.R187= | Synonymous | 7/7 | - | 1 |
11-67353974-C-G | c.559C>G | p.R187G | Missense | 7/7 | - | 2 |
11-67353974-CGG-AGC | c.559_561delinsAGC | p.R187S | Missense | 7/7 | - | 1 |
11-67353974-CG-GC | c.559_560delinsGC | p.R187A | Missense | 7/7 | - | 1 |
11-67353974-C-T | c.559C>T | p.R187W | Missense | 7/7 | - | 6 |
11-67353976-G-A | c.561G>A | p.R187= | Synonymous | 7/7 | - | 1 |
11-67353976-G-T | c.561G>T | p.R187= | Synonymous | 7/7 | - | 1 |
11-67353975-G-A | c.560G>A | p.R187Q | Missense | 7/7 | - | 1 |
11-67353976-G-C | c.561G>C | p.R187= | Synonymous | 7/7 | - | 2 |
11-67353977-C-A | c.562C>A | p.P188T | Missense | 7/7 | - | 1 |
11-67353979-C-CT | c.564_565insT | p.K189* | Nonsense | 7/7 | - | 1 |
11-67353980-A-AAC | c.566_567insCA | p.K189Nfs*13 | Frameshift | 7/7 | - | 1 |
11-67353983-C-A | c.568C>A | p.L190I | Missense | 7/7 | - | 1 |
11-67353983-C-T | c.568C>T | p.L190F | Missense | 7/7 | - | 1 |
11-67353985-C-A | c.570C>A | p.L190= | Synonymous | 7/7 | - | 1 |
11-67353985-C-G | c.570C>G | p.L190= | Synonymous | 7/7 | - | 2 |
11-67353985-C-T | c.570C>T | p.L190= | Synonymous | 7/7 | - | 1 |
11-67353988-G-A | c.573G>A | p.K191= | Synonymous | 7/7 | - | 1 |
11-67353989-G-A | c.574G>A | p.A192T | Missense | 7/7 | - | 1 |
11-67353990-C-T | c.575C>T | p.A192V | Missense | 7/7 | - | 1 |
11-67353993-T-C | c.578T>C | p.F193S | Missense | 7/7 | - | 5 |
11-67353994-C-T | c.579C>T | p.F193= | Synonymous | 7/7 | - | 1 |
11-67353995-C-T | c.580C>T | p.L194= | Synonymous | 7/7 | - | 1 |
11-67353998-G-T | c.583G>T | p.A195S | Missense | 7/7 | - | 1 |
11-67354000-C-T | c.585C>T | p.A195= | Synonymous | 7/7 | - | 1 |
11-67354004-C-G | c.589C>G | p.P197A | Missense | 7/7 | - | 4 |
11-67354004-C-T | c.589C>T | p.P197S | Missense | 7/7 | - | 1 |
11-67354005-C-T | c.590C>T | p.P197L | Missense | 7/7 | - | 5 |
11-67354006-T-A | c.591T>A | p.P197= | Synonymous | 7/7 | - | 1 |
11-67354006-T-C | c.591T>C | p.P197= | Synonymous | 7/7 | - | 1 |
11-67354006-T-G | c.591T>G | p.P197= | Synonymous | 7/7 | - | 1 |
11-67354012-C-T | c.597C>T | p.Y199= | Synonymous | 7/7 | - | 1 |
11-67354016-A-C | c.601A>C | p.N201H | Missense | 7/7 | - | 1 |
11-67354016-A-G | c.601A>G | p.N201D | Missense | 7/7 | - | 2 |
11-67354017-A-C | c.602A>C | p.N201T | Missense | 7/7 | - | 1 |
11-67354018-C-T | c.603C>T | p.N201= | Synonymous | 7/7 | - | 1 |
11-67354022-C-T | c.607C>T | p.P203S | Missense | 7/7 | - | 1 |
11-67354030-T-C | c.615T>C | p.N205= | Synonymous | 7/7 | - | 1 |
11-67354038-G-C | c.623G>C | p.G208A | Missense | 7/7 | - | 1 |
11-67354038-G-T | c.623G>T | p.G208V | Missense | 7/7 | - | 2 |
11-67354040-A-G | c.625A>G | p.K209E | Missense | 7/7 | - | 1 |
11-67354042-A-G | c.627A>G | p.K209= | Synonymous | 7/7 | - | 1 |
11-67354043-C-T | c.628C>T | p.Q210* | Nonsense | 7/7 | - | 1 |
11-67354046-T-C | c.631T>C | p.*211Rext*6 | Missense | 7/7 | - | 1 |
11-67354104-A-G | c.*56A>G | - | 3-UTRSNV | 7/7 | - | 2 |
11-67354109-A-C | c.*61A>C | - | 3-UTRSNV | 7/7 | - | 1 |
11-67354109-A-G | c.*61A>G | - | 3-UTRSNV | 7/7 | - | 1 |