Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
16-72128207-G-C | c.-20+257G>C | - | intron_variant | - | 1/26 | 1 |
16-72130065-C-A | c.9C>A | p.D3E | Missense | 2/27 | - | 1 |
16-72130065-C-G | c.9C>G | p.D3E | Missense | 2/27 | - | 1 |
16-72130072-G-A | c.16G>A | p.E6K | Missense | 2/27 | - | 1 |
16-72130078-G-T | c.22G>T | p.A8S | Missense | 2/27 | - | 1 |
16-72130083-G-A | c.27G>A | p.S9= | Synonymous | 2/27 | - | 2 |
16-72130083-G-C | c.27G>C | p.S9= | Synonymous | 2/27 | - | 2 |
16-72130083-G-T | c.27G>T | p.S9= | Synonymous | 2/27 | - | 2 |
16-72130086-C-A | c.30C>A | p.I10= | Synonymous | 2/27 | - | 1 |
16-72130086-C-T | c.30C>T | p.I10= | Synonymous | 2/27 | - | 1 |
16-72130087-C-T | c.31C>T | p.H11Y | Missense | 2/27 | - | 1 |
16-72130091-G-A | c.35G>A | p.R12Q | Missense | 2/27 | - | 5 |
16-72130095-G-A | c.39G>A | p.L13= | Synonymous | 2/27 | - | 1 |
16-72130094-T-C | c.38T>C | p.L13S | Missense | 2/27 | - | 1 |
16-72130099-G-C | c.43G>C | p.G15R | Missense | 2/27 | - | 1 |
16-72130100-G-A | c.44G>A | p.G15D | Missense | 2/27 | - | 1 |
16-72130100-G-T | c.44G>T | p.G15V | Missense | 2/27 | - | 1 |
16-72130102-A-G | c.46A>G | p.T16A | Missense | 2/27 | - | 1 |
16-72130102-A-T | c.46A>T | p.T16S | Missense | 2/27 | - | 4 |
16-72130103-C-G | c.47C>G | p.T16S | Missense | 2/27 | - | 13 |
16-72130103-CT-TG | c.47_48delinsTG | p.T16M | Missense | 2/27 | - | 1 |
16-72130104-T-A | c.48T>A | p.T16= | Synonymous | 2/27 | - | 1 |
16-72130104-T-C | c.48T>C | p.T16= | Synonymous | 2/27 | - | 1 |
16-72130104-T-G | c.48T>G | p.T16= | Synonymous | 2/27 | - | 1 |
16-72130106-A-G | c.50A>G | p.D17G | Missense | 2/27 | - | 1 |
16-72130111-G-A | c.55G>A | p.D19N | Missense | 2/27 | - | 3 |
16-72130123-G-A | c.67G>A | p.G23S | Missense | 2/27 | - | 1 |
16-72130124-G-T | c.68G>T | p.G23V | Missense | 2/27 | - | 1 |
16-72130125-T-A | c.69T>A | p.G23= | Synonymous | 2/27 | - | 2 |
16-72130125-T-C | c.69T>C | p.G23= | Synonymous | 2/27 | - | 8 |
16-72130125-T-G | c.69T>G | p.G23= | Synonymous | 2/27 | - | 2 |
16-72130127-G-T | c.71G>T | p.G24V | Missense | 2/27 | - | 1 |
16-72130130-T-G | c.74T>G | p.L25R | Missense | 2/27 | - | 1 |
16-72130134-T-G | c.78T>G | p.I26M | Missense | 2/27 | - | 1 |
16-72130135-TG-AC | c.79_80delinsAC | p.C27T | Missense | 2/27 | - | 1 |
16-72130136-G-A | c.80G>A | p.C27Y | Missense | 2/27 | - | 1 |
16-72130137-C-CT | c.81_82insT | p.K28* | Nonsense | 2/27 | - | 1 |
16-72130140-G-A | c.84G>A | p.K28= | Synonymous | 2/27 | - | 1 |
16-72130143-C-A | c.87C>A | p.S29= | Synonymous | 2/27 | - | 1 |
16-72130143-C-G | c.87C>G | p.S29= | Synonymous | 2/27 | - | 1 |
16-72130143-C-T | c.87C>T | p.S29= | Synonymous | 2/27 | - | 1 |
16-72130145-A-G | c.89A>G | p.K30R | Missense | 2/27 | - | 3 |
16-72130150-G-A | c.94G>A | p.A32T | Missense | 2/27 | - | 1 |
16-72130150-G-C | c.94G>C | p.A32P | Missense | 2/27 | - | 1 |
16-72130150-GCG-AAC | c.94_96delinsAAC | p.A32N | Missense | 2/27 | - | 1 |
16-72130152-G-A | c.96G>A | p.A32= | Synonymous | 2/27 | - | 4 |
16-72130156-AG-TA | c.100_101delinsTA | p.S34Y | Missense | 2/27 | - | 1 |
16-72130157-G-T | c.101G>T | p.S34I | Missense | 2/27 | - | 1 |
16-72130158-C-T | c.102C>T | p.S34= | Synonymous | 2/27 | - | 1 |
16-72130161-G-A | c.105G>A | p.E35= | Synonymous | 2/27 | - | 1 |
16-72130164-G-A | c.108G>A | p.Q36= | Synonymous | 2/27 | - | 1 |
16-72130171-T-C | c.115T>C | p.F39L | Missense | 2/27 | - | 1 |
16-72130173-C-A | c.117C>A | p.F39L | Missense | 2/27 | - | 1 |
16-72130173-C-G | c.117C>G | p.F39L | Missense | 2/27 | - | 1 |
16-72130173-C-T | c.117C>T | p.F39= | Synonymous | 2/27 | - | 2 |
16-72130180-C-T | c.124C>T | p.P42S | Missense | 2/27 | - | 2 |
16-72130181-C-T | c.125C>T | p.P42L | Missense | 2/27 | - | 1 |
16-72130182-T-A | c.126T>A | p.P42= | Synonymous | 2/27 | - | 1 |
16-72130182-T-C | c.126T>C | p.P42= | Synonymous | 2/27 | - | 1 |
16-72130182-T-G | c.126T>G | p.P42= | Synonymous | 2/27 | - | 1 |
16-72130184-C-A | c.128C>A | p.A43D | Missense | 2/27 | - | 1 |
16-72130187-C-T | c.131C>T | p.P44L | Missense | 2/27 | - | 1 |
16-72130189-C-A | c.133C>A | p.R45S | Missense | 2/27 | - | 1 |
16-72130189-C-T | c.133C>T | p.R45C | Missense | 2/27 | - | 3 |
16-72130190-G-A | c.134G>A | p.R45H | Missense | 2/27 | - | 6 |
16-72130192-C-T | c.136C>T | p.P46S | Missense | 2/27 | - | 1 |
16-72130197-A-G | c.141A>G | p.S47= | Synonymous | 2/27 | - | 1 |
16-72130203-C-A | c.147C>A | p.L49= | Synonymous | 2/27 | - | 4 |
16-72130203-C-G | c.147C>G | p.L49= | Synonymous | 2/27 | - | 20 |
16-72130203-C-T | c.147C>T | p.L49= | Synonymous | 2/27 | - | 19 |
16-72130205-G-C | c.149G>C | p.G50A | Missense | 2/27 | - | 1 |
16-72130207-C-A | c.151C>A | p.L51M | Missense | 2/27 | - | 1 |
16-72130207-C-T | c.151C>T | p.L51= | Synonymous | 2/27 | - | 1 |
16-72130212-C-T | c.156C>T | p.D52= | Synonymous | 2/27 | - | 1 |
16-72130216-CTG-TTT | c.160_162delinsTTT | p.L54F | Missense | 2/27 | - | 1 |
16-72130231-C-T | c.175C>T | p.R59W | Missense | 2/27 | - | 2 |
16-72130232-G-A | c.176G>A | p.R59Q | Missense | 2/27 | - | 2 |
16-72130233-G-GA | c.178dup | p.R60Kfs*29 | Frameshift | 2/27 | - | 1 |
16-72130240-C-A | c.184C>A | p.R62= | Synonymous | 2/27 | - | 1 |
16-72130240-CGA-TGG | c.184_186delinsTGG | p.R62W | Missense | 2/27 | - | 1 |
16-72130240-CGA-TGT | c.184_186delinsTGT | p.R62C | Missense | 2/27 | - | 1 |
16-72130240-C-T | c.184C>T | p.R62* | Nonsense | 2/27 | - | 4 |
16-72130242-A-C | c.186A>C | p.R62= | Synonymous | 2/27 | - | 1 |
16-72130242-A-G | c.186A>G | p.R62= | Synonymous | 2/27 | - | 1 |
16-72130242-A-T | c.186A>T | p.R62= | Synonymous | 2/27 | - | 1 |
16-72130241-G-A | c.185G>A | p.R62Q | Missense | 2/27 | - | 1 |
16-72130245-G-A | c.189G>A | p.E63= | Synonymous | 2/27 | - | 1 |
16-72130245-G-T | c.189G>T | p.E63D | Missense | 2/27 | - | 1 |
16-72130246-G-A | c.190G>A | p.E64K | Missense | 2/27 | - | 1 |
16-72130246-G-T | c.190G>T | p.E64* | Nonsense | 2/27 | - | 1 |
16-72130247-GA-G | c.191del | p.E64Gfs*52 | Frameshift | 2/27 | - | 1 |
16-72130253-A-G | c.197A>G | p.D66G | Missense | 2/27 | - | 1 |
16-72130255-G-A | c.199G>A | p.D67N | Missense | 2/27 | - | 8 |
16-72130255-G-C | c.199G>C | p.D67H | Missense | 2/27 | - | 1 |
16-72130261-G-A | c.205G>A | p.E69K | Missense | 2/27 | - | 1 |
16-72130283-TCTC-T | c.233_235del | p.S78del | InFrameDeletion | 2/27 | - | 2 |
16-72130289-C-T | c.233C>T | p.S78F | Missense | 2/27 | - | 1 |
16-72130292-A-G | c.236A>G | p.Y79C | Missense | 2/27 | - | 1 |
16-72130296-G-A | c.240G>A | p.K80= | Synonymous | 2/27 | - | 1 |
16-72130295-AG-A | c.241del | p.D81Tfs*35 | Frameshift | 2/27 | - | 1 |
16-72130306-G-C | c.250G>C | p.E84Q | Missense | 2/27 | - | 1 |
16-72130308-G-A | c.252G>A | p.E84= | Synonymous | 2/27 | - | 1 |
16-72130308-G-T | c.252G>T | p.E84D | Missense | 2/27 | - | 1 |
16-72130315-G-A | c.259G>A | p.D87N | Missense | 2/27 | - | 1 |
16-72130330-G-A | c.274G>A | p.A92T | Missense | 2/27 | - | 1 |
16-72130331-C-T | c.275C>T | p.A92V | Missense | 2/27 | - | 1 |
16-72130344-C-A | c.288C>A | p.G96= | Synonymous | 2/27 | - | 2 |
16-72130344-C-G | c.288C>G | p.G96= | Synonymous | 2/27 | - | 2 |
16-72130344-C-T | c.288C>T | p.G96= | Synonymous | 2/27 | - | 2 |
16-72130345-G-T | c.289G>T | p.G97C | Missense | 2/27 | - | 1 |
16-72130349-A-T | c.293A>T | p.D98V | Missense | 2/27 | - | 1 |
16-72130351-C-T | c.295C>T | p.Q99* | Nonsense | 2/27 | - | 1 |
16-72130353-G-C | c.297G>C | p.Q99H | Missense | 2/27 | - | 1 |
16-72130353-G-T | c.297G>T | p.Q99H | Missense | 2/27 | - | 1 |
16-72130354-G-A | c.298G>A | p.A100T | Missense | 2/27 | - | 2 |
16-72130357-G-A | c.301G>A | p.G101S | Missense | 2/27 | - | 1 |
16-72130357-G-T | c.301G>T | p.G101C | Missense | 2/27 | - | 1 |
16-72130365-T-A | c.309T>A | p.N103K | Missense | 2/27 | - | 1 |
16-72130365-T-G | c.309T>G | p.N103K | Missense | 2/27 | - | 1 |
16-72130372-AAAG-A | c.318_320del | p.K106_D107delinsN | MultiAAMissense | 2/27 | - | 1 |
16-72130378-A-T | c.322A>T | p.R108* | Nonsense | 2/27 | - | 1 |
16-72130379-G-A | c.323G>A | p.R108K | Missense | 2/27 | - | 2 |
16-72130556-G-T | c.324-165G>T | - | IntronicSNV | - | 2/26 | 2 |
16-72130723-A-AT | c.328dup | p.Y110Lfs*56 | Frameshift | 3/27 | - | 1 |
16-72130728-C-T | c.331C>T | p.R111W | Missense | 3/27 | - | 2 |
16-72130729-GG-AT | c.332_333delinsAT | p.R111H | Missense | 3/27 | - | 1 |
16-72130732-C-T | c.335C>T | p.S112F | Missense | 3/27 | - | 1 |
16-72130737-C-T | c.340C>T | p.R114W | Missense | 3/27 | - | 3 |
16-72130738-G-A | c.341G>A | p.R114Q | Missense | 3/27 | - | 3 |
16-72130738-G-T | c.341G>T | p.R114L | Missense | 3/27 | - | 1 |
16-72130740-G-A | c.343G>A | p.V115I | Missense | 3/27 | - | 1 |
16-72130749-C-G | c.352C>G | p.P118A | Missense | 3/27 | - | 1 |
16-72130749-C-T | c.352C>T | p.P118S | Missense | 3/27 | - | 2 |
16-72130757-T-C | c.360T>C | p.H120= | Synonymous | 3/27 | - | 2 |
16-72130758-CC-TT | c.361_362delinsTT | p.P121L | Missense | 3/27 | - | 2 |
16-72130758-C-T | c.361C>T | p.P121S | Missense | 3/27 | - | 2 |
16-72130759-C-T | c.362C>T | p.P121L | Missense | 3/27 | - | 5 |
16-72130760-G-A | c.363G>A | p.P121= | Synonymous | 3/27 | - | 3 |
16-72130760-G-C | c.363G>C | p.P121= | Synonymous | 3/27 | - | 3 |
16-72130760-G-T | c.363G>T | p.P121= | Synonymous | 3/27 | - | 3 |
16-72130762-G-A | c.365G>A | p.G122D | Missense | 3/27 | - | 2 |
16-72130765-G-T | c.368G>T | p.G123V | Missense | 3/27 | - | 1 |
16-72130772-C-T | c.375C>T | p.S125= | Synonymous | 3/27 | - | 4 |
16-72130773-G-A | c.376G>A | p.E126K | Missense | 3/27 | - | 1 |
16-72130788-C-T | c.391C>T | p.R131C | Missense | 3/27 | - | 4 |
16-72130789-G-A | c.392G>A | p.R131H | Missense | 3/27 | - | 3 |
16-72130789-G-C | c.392G>C | p.R131P | Missense | 3/27 | - | 1 |
16-72130789-G-T | c.392G>T | p.R131L | Missense | 3/27 | - | 1 |
16-72130792-G-A | c.395G>A | p.S132N | Missense | 3/27 | - | 1 |
16-72130792-G-C | c.395G>C | p.S132T | Missense | 3/27 | - | 1 |
16-72130793-T-G | c.396T>G | p.S132R | Missense | 3/27 | - | 1 |
16-72130795-G-A | c.398G>A | p.R133Q | Missense | 3/27 | - | 2 |
16-72130798-A-G | c.401A>G | p.Q134R | Missense | 3/27 | - | 1 |
16-72130800-A-G | c.403A>G | p.R135G | Missense | 3/27 | - | 1 |
16-72130797-CAG-C | c.407_408del | p.E136Afs*29 | Frameshift | 3/27 | - | 1 |
16-72130805-G-C | c.408G>C | p.E136D | Missense | 3/27 | - | 1 |
16-72130805-G-T | c.408G>T | p.E136D | Missense | 3/27 | - | 2 |
16-72130806-C-T | c.409C>T | p.R137W | Missense | 3/27 | - | 2 |
16-72130811-G-C | c.414G>C | p.E138D | Missense | 3/27 | - | 1 |
16-72130811-G-T | c.414G>T | p.E138D | Missense | 3/27 | - | 1 |
16-72130813-G-A | c.416G>A | p.R139Q | Missense | 3/27 | - | 6 |
16-72130815-C-A | c.418C>A | p.R140= | Synonymous | 3/27 | - | 25 |
16-72130815-C-T | c.418C>T | p.R140W | Missense | 3/27 | - | 9 |
16-72130817-G-A | c.420G>A | p.R140= | Synonymous | 3/27 | - | 3 |
16-72130817-G-C | c.420G>C | p.R140= | Synonymous | 3/27 | - | 3 |
16-72130816-G-A | c.419G>A | p.R140Q | Missense | 3/27 | - | 3 |
16-72130817-G-T | c.420G>T | p.R140= | Synonymous | 3/27 | - | 5 |
16-72130819-A-G | c.422A>G | p.E141G | Missense | 3/27 | - | 1 |
16-72130820-A-T | c.423A>T | p.E141D | Missense | 3/27 | - | 1 |
16-72130825-G-A | c.428G>A | p.G143D | Missense | 3/27 | - | 1 |
16-72130831-A-G | c.434A>G | p.Y145C | Missense | 3/27 | - | 1 |
16-72130838-G-A | c.441G>A | p.S147= | Synonymous | 3/27 | - | 3 |
16-72130839-T-C | c.442T>C | p.S148P | Missense | 3/27 | - | 1 |
16-72130844-A-G | c.447A>G | p.K149= | Synonymous | 3/27 | - | 1 |
16-72130847-A-G | c.450A>G | p.E150= | Synonymous | 3/27 | - | 1 |
16-72130873-C-T | c.476C>T | p.S159L | Missense | 3/27 | - | 2 |
16-72130875-CG-TA | c.478_479delinsTA | p.R160* | Nonsense | 3/27 | - | 1 |
16-72130875-C-T | c.478C>T | p.R160W | Missense | 3/27 | - | 1 |
16-72130881-C-T | c.484C>T | p.R162* | Nonsense | 3/27 | - | 1 |
16-72130892-C-A | c.495C>A | p.D165E | Missense | 3/27 | - | 1 |
16-72130892-C-G | c.495C>G | p.D165E | Missense | 3/27 | - | 1 |
16-72130892-C-T | c.495C>T | p.D165= | Synonymous | 3/27 | - | 2 |
16-72130894-G-A | c.497G>A | p.R166H | Missense | 3/27 | - | 3 |
16-72130900-G-A | c.503G>A | p.R168K | Missense | 3/27 | - | 1 |
16-72130900-GG-TC | c.503_504delinsTC | p.R168I | Missense | 3/27 | - | 2 |
16-72130900-G-T | c.503G>T | p.R168M | Missense | 3/27 | - | 1 |
16-72130908-G-A | c.511G>A | p.D171N | Missense | 3/27 | - | 1 |
16-72130909-G-C | c.511+1G>C | - | IntronicSNV | - | 3/26 | 1 |
16-72131126-C-T | c.511+218C>T | - | IntronicSNV | - | 3/26 | 2 |
16-72131126-TC-T | c.511+218del | - | IntronicDeletion | - | 3/26 | 1 |
16-72131145-A-G | c.511+237A>G | - | IntronicSNV | - | 3/26 | 1 |
16-72131577-T-C | c.513T>C | p.D171= | Synonymous | 4/27 | - | 1 |
16-72131578-G-C | c.514G>C | p.E172Q | Missense | 4/27 | - | 1 |
16-72131581-C-T | c.517C>T | p.R173W | Missense | 4/27 | - | 2 |
16-72131582-G-A | c.518G>A | p.R173Q | Missense | 4/27 | - | 3 |
16-72131582-G-T | c.518G>T | p.R173L | Missense | 4/27 | - | 1 |
16-72131586-T-C | c.522T>C | p.D174= | Synonymous | 4/27 | - | 1 |
16-72131592-T-C | c.528T>C | p.S176= | Synonymous | 4/27 | - | 1 |
16-72131593-AG-CA | c.529_530delinsCA | p.R177Q | Missense | 4/27 | - | 1 |
16-72131594-G-C | c.530G>C | p.R177T | Missense | 4/27 | - | 1 |
16-72131593-A-C | c.529A>C | p.R177= | Synonymous | 4/27 | - | 1 |
16-72131595-G-A | c.531G>A | p.R177= | Synonymous | 4/27 | - | 1 |
16-72131609-C-G | c.545C>G | p.S182* | Nonsense | 4/27 | - | 1 |
16-72131615-G-A | c.551G>A | p.R184Q | Missense | 4/27 | - | 1 |
16-72131617-G-C | c.553G>C | p.D185H | Missense | 4/27 | - | 1 |
16-72131620-G-T | c.556G>T | p.G186* | Nonsense | 4/27 | - | 1 |
16-72131624-G-A | c.560G>A | p.G187E | Missense | 4/27 | - | 1 |
16-72131627-C-A | c.563C>A | p.S188* | Nonsense | 4/27 | - | 1 |
16-72131627-C-G | c.563C>G | p.S188* | Nonsense | 4/27 | - | 1 |
16-72131632-CGT-AAG | c.568_570delinsAAG | p.R190K | Missense | 4/27 | - | 1 |
16-72131633-G-A | c.569G>A | p.R190H | Missense | 4/27 | - | 1 |
16-72131636-G-C | c.572G>C | p.S191T | Missense | 4/27 | - | 1 |
16-72131639-G-A | c.575G>A | p.S192N | Missense | 4/27 | - | 2 |
16-72131644-A-G | c.580A>G | p.R194G | Missense | 4/27 | - | 1 |
16-72131645-G-T | c.581G>T | p.R194I | Missense | 4/27 | - | 1 |
16-72131652-A-G | c.588A>G | p.E196= | Synonymous | 4/27 | - | 1 |
16-72131655-C-A | c.591C>A | p.P197= | Synonymous | 4/27 | - | 4 |
16-72131655-C-G | c.591C>G | p.P197= | Synonymous | 4/27 | - | 6 |
16-72131655-C-T | c.591C>T | p.P197= | Synonymous | 4/27 | - | 3 |
16-72131661-C-T | c.597C>T | p.S199= | Synonymous | 4/27 | - | 1 |
16-72131662-C-T | c.598C>T | p.P200S | Missense | 4/27 | - | 1 |
16-72131666-G-A | c.602G>A | p.R201Q | Missense | 4/27 | - | 2 |
16-72131666-G-T | c.602G>T | p.R201L | Missense | 4/27 | - | 1 |
16-72131669-A-AT | c.606dup | p.R203Sfs*3 | Frameshift | 4/27 | - | 1 |
16-72131672-G-A | c.608G>A | p.R203Q | Missense | 4/27 | - | 3 |
16-72131672-GA-AT | c.608_609delinsAT | p.R203H | Missense | 4/27 | - | 1 |
16-72131674-C-A | c.610C>A | p.P204T | Missense | 4/27 | - | 1 |
16-72131675-C-T | c.611C>T | p.P204L | Missense | 4/27 | - | 2 |
16-72131740-ACT-A | c.616+64_616+65del | - | IntronicDeletion | - | 4/26 | 2 |
16-72132296-T-C | c.617-248T>C | - | IntronicSNV | - | 4/26 | 1 |
16-72132356-C-T | c.617-188C>T | - | IntronicSNV | - | 4/26 | 2 |
16-72132546-G-C | c.619G>C | p.A207P | Missense | 5/27 | - | 1 |
16-72132555-C-A | c.628C>A | p.P210T | Missense | 5/27 | - | 1 |
16-72132555-C-G | c.628C>G | p.P210A | Missense | 5/27 | - | 1 |
16-72132555-C-T | c.628C>T | p.P210S | Missense | 5/27 | - | 1 |
16-72132559-C-G | c.632C>G | p.S211* | Nonsense | 5/27 | - | 1 |
16-72132559-C-T | c.632C>T | p.S211L | Missense | 5/27 | - | 1 |
16-72132561-AGG-CAT | c.634_636delinsCAT | p.R212H | Missense | 5/27 | - | 1 |
16-72132573-G-C | c.646G>C | p.E216Q | Missense | 5/27 | - | 1 |
16-72132576-G-C | c.649G>C | p.E217Q | Missense | 5/27 | - | 1 |
16-72132582-G-A | c.655G>A | p.D219N | Missense | 5/27 | - | 1 |
16-72132588-G-C | c.661G>C | p.G221R | Missense | 5/27 | - | 1 |
16-72132594-G-A | c.667G>A | p.G223S | Missense | 5/27 | - | 1 |
16-72132606-C-T | c.679C>T | p.R227C | Missense | 5/27 | - | 1 |
16-72132610-C-T | c.683C>T | p.S228L | Missense | 5/27 | - | 1 |
16-72132611-A-C | c.684A>C | p.S228= | Synonymous | 5/27 | - | 1 |
16-72132611-A-G | c.684A>G | p.S228= | Synonymous | 5/27 | - | 1 |
16-72132611-A-T | c.684A>T | p.S228= | Synonymous | 5/27 | - | 1 |
16-72132623-G-T | c.696G>T | p.S232= | Synonymous | 5/27 | - | 1 |
16-72132628-C-T | c.701C>T | p.S234F | Missense | 5/27 | - | 5 |
16-72132629-C-A | c.702C>A | p.S234= | Synonymous | 5/27 | - | 1 |
16-72132629-C-G | c.702C>G | p.S234= | Synonymous | 5/27 | - | 1 |
16-72132629-C-T | c.702C>T | p.S234= | Synonymous | 5/27 | - | 1 |
16-72132631-C-T | c.704C>T | p.P235L | Missense | 5/27 | - | 1 |
16-72132634-C-T | c.707C>T | p.T236M | Missense | 5/27 | - | 2 |
16-72132640-C-T | c.713C>T | p.S238F | Missense | 5/27 | - | 1 |
16-72132644-T-A | c.717T>A | p.Y239* | Nonsense | 5/27 | - | 1 |
16-72132644-T-G | c.717T>G | p.Y239* | Nonsense | 5/27 | - | 1 |
16-72132645-CGG-AGC | c.718_720delinsAGC | p.R240S | Missense | 5/27 | - | 1 |
16-72132645-CG-TA | c.718_719delinsTA | p.R240* | Nonsense | 5/27 | - | 1 |
16-72132645-C-T | c.718C>T | p.R240W | Missense | 5/27 | - | 2 |
16-72132646-G-A | c.719G>A | p.R240Q | Missense | 5/27 | - | 1 |
16-72132651-TC-AT | c.724_725delinsAT | p.S242I | Missense | 5/27 | - | 1 |
16-72132654-G-C | c.727G>C | p.E243Q | Missense | 5/27 | - | 1 |
16-72132658-G-A | c.731G>A | p.R244Q | UnclassifiedSNV | 5/27 | - | 5 |
16-72132666-CGG-TGT | c.739_741delinsTGT | p.R247C | Missense | 5/27 | - | 1 |
16-72132666-C-T | c.739C>T | p.R247W | Missense | 5/27 | - | 4 |
16-72132667-G-A | c.740G>A | p.R247Q | Missense | 5/27 | - | 2 |
16-72132667-GG-AT | c.740_741delinsAT | p.R247H | Missense | 5/27 | - | 1 |
16-72132669-C-T | c.742C>T | p.L248= | Synonymous | 5/27 | - | 1 |
16-72132671-G-A | c.744G>A | p.L248= | Synonymous | 5/27 | - | 1 |
16-72132671-G-C | c.744G>C | p.L248= | Synonymous | 5/27 | - | 1 |
16-72132671-G-T | c.744G>T | p.L248= | Synonymous | 5/27 | - | 1 |
16-72132673-C-G | c.746C>G | p.S249C | Missense | 5/27 | - | 1 |
16-72132675-A-T | c.748A>T | p.T250S | Missense | 5/27 | - | 1 |
16-72132676-C-T | c.749C>T | p.T250I | Missense | 5/27 | - | 2 |
16-72132678-C-T | c.751C>T | p.R251* | Nonsense | 5/27 | - | 3 |
16-72132679-G-A | c.752G>A | p.R251Q | Missense | 5/27 | - | 3 |
16-72132679-GA-AT | c.752_753delinsAT | p.R251H | Missense | 5/27 | - | 1 |
16-72132681-G-A | c.754G>A | p.D252N | Missense | 5/27 | - | 1 |
16-72132684-C-T | c.757C>T | p.R253* | Nonsense | 5/27 | - | 2 |
16-72132685-G-A | c.758G>A | p.R253Q | Missense | 5/27 | - | 1 |
16-72132687-G-A | c.760G>A | p.D254N | Missense | 5/27 | - | 2 |
16-72132690-A-T | c.763A>T | p.R255W | Missense | 5/27 | - | 1 |
16-72132713-C-T | c.764+22C>T | - | IntronicSNV | - | 5/26 | 6 |
16-72132830-G-A | c.769G>A | p.V257M | Missense | 6/27 | - | 1 |
16-72132832-G-A | c.771G>A | p.V257= | Synonymous | 6/27 | - | 2 |
16-72132834-G-T | c.773G>T | p.R258M | Missense | 6/27 | - | 1 |
16-72132837-G-A | c.776G>A | p.G259D | Missense | 6/27 | - | 3 |
16-72132843-A-G | c.782A>G | p.Y261C | Missense | 6/27 | - | 1 |
16-72132844-C-G | c.783C>G | p.Y261* | Nonsense | 6/27 | - | 1 |
16-72132846-C-T | c.785C>T | p.S262L | Missense | 6/27 | - | 1 |
16-72132848-G-A | c.787G>A | p.D263N | Missense | 6/27 | - | 3 |
16-72132851-G-A | c.790G>A | p.D264N | Missense | 6/27 | - | 1 |
16-72132851-G-T | c.790G>T | p.D264Y | Missense | 6/27 | - | 2 |
16-72132853-C-T | c.792C>T | p.D264= | Synonymous | 6/27 | - | 1 |
16-72132855-C-T | c.794C>T | p.T265M | Missense | 6/27 | - | 1 |
16-72132856-G-A | c.795G>A | p.T265= | Synonymous | 6/27 | - | 2 |
16-72132856-G-C | c.795G>C | p.T265= | Synonymous | 6/27 | - | 1 |
16-72132856-G-T | c.795G>T | p.T265= | Synonymous | 6/27 | - | 1 |
16-72132857-C-G | c.796C>G | p.P266A | Missense | 6/27 | - | 1 |
16-72132857-C-T | c.796C>T | p.P266S | Missense | 6/27 | - | 3 |
16-72132860-C-T | c.799C>T | p.L267= | Synonymous | 6/27 | - | 3 |
16-72132862-G-A | c.801G>A | p.L267= | Synonymous | 6/27 | - | 2 |
16-72132862-G-C | c.801G>C | p.L267= | Synonymous | 6/27 | - | 3 |
16-72132862-G-T | c.801G>T | p.L267= | Synonymous | 6/27 | - | 2 |
16-72132863-C-T | c.802C>T | p.P268S | Missense | 6/27 | - | 1 |
16-72132864-C-A | c.803C>A | p.P268Q | Missense | 6/27 | - | 1 |
16-72132864-C-T | c.803C>T | p.P268L | Missense | 6/27 | - | 5 |
16-72132867-CT-TG | c.806_807delinsTG | p.T269M | Missense | 6/27 | - | 1 |
16-72132871-C-G | c.810C>G | p.P270= | Synonymous | 6/27 | - | 1 |
16-72132874-C-A | c.813C>A | p.S271= | Synonymous | 6/27 | - | 2 |
16-72132874-C-G | c.813C>G | p.S271= | Synonymous | 6/27 | - | 2 |
16-72132874-C-T | c.813C>T | p.S271= | Synonymous | 6/27 | - | 2 |
16-72132878-A-T | c.817A>T | p.K273* | Nonsense | 6/27 | - | 1 |
16-72132882-A-G | c.821A>G | p.Y274C | Missense | 6/27 | - | 1 |
16-72132886-C-T | c.825C>T | p.N275= | Synonymous | 6/27 | - | 2 |
16-72132887-G-A | c.826G>A | p.E276K | Missense | 6/27 | - | 3 |
16-72132893-G-A | c.832G>A | p.A278T | Missense | 6/27 | - | 1 |
16-72132894-C-A | c.833C>A | p.A278D | Missense | 6/27 | - | 1 |
16-72132895-C-A | c.834C>A | p.A278= | Synonymous | 6/27 | - | 1 |
16-72132895-C-G | c.834C>G | p.A278= | Synonymous | 6/27 | - | 1 |
16-72132895-C-T | c.834C>T | p.A278= | Synonymous | 6/27 | - | 1 |
16-72132896-G-A | c.835G>A | p.D279N | Missense | 6/27 | - | 1 |
16-72132899-G-A | c.838G>A | p.D280N | Missense | 6/27 | - | 1 |
16-72132899-G-C | c.838G>C | p.D280H | Missense | 6/27 | - | 1 |
16-72132910-C-A | c.849C>A | p.H283Q | Missense | 6/27 | - | 1 |
16-72132910-C-G | c.849C>G | p.H283Q | Missense | 6/27 | - | 1 |
16-72132910-C-T | c.849C>T | p.H283= | Synonymous | 6/27 | - | 1 |
16-72132917-T-A | c.856T>A | p.S286T | Missense | 6/27 | - | 3 |
16-72132918-C-G | c.857C>G | p.S286C | Missense | 6/27 | - | 1 |
16-72132918-C-T | c.857C>T | p.S286F | Missense | 6/27 | - | 1 |
16-72132922-C-T | c.861C>T | p.T287= | Synonymous | 6/27 | - | 3 |
16-72132923-C-A | c.862C>A | p.P288T | Missense | 6/27 | - | 1 |
16-72132924-C-T | c.863C>T | p.P288L | Missense | 6/27 | - | 3 |
16-72132926-C-T | c.865C>T | p.R289C | Missense | 6/27 | - | 2 |
16-72132931-G-A | c.870G>A | p.L290= | Synonymous | 6/27 | - | 2 |
16-72132938-G-A | c.877G>A | p.G293S | Missense | 6/27 | - | 1 |
16-72133057-G-A | c.884-46G>A | - | IntronicSNV | - | 6/26 | 1 |
16-72133103-G-A | c.884G>A | p.G295E | Missense | 7/27 | - | 1 |
16-72133105-AGA-CAT | c.886_888delinsCAT | p.R296H | Missense | 7/27 | - | 1 |
16-72133105-AGA-TGT | c.886_888delinsTGT | p.R296C | Missense | 7/27 | - | 1 |
16-72133108-C-T | c.889C>T | p.R297C | Missense | 7/27 | - | 2 |
16-72133110-T-A | c.891T>A | p.R297= | Synonymous | 7/27 | - | 1 |
16-72133110-T-C | c.891T>C | p.R297= | Synonymous | 7/27 | - | 1 |
16-72133110-T-G | c.891T>G | p.R297= | Synonymous | 7/27 | - | 1 |
16-72133118-G-C | c.899G>C | p.G300A | Missense | 7/27 | - | 1 |
16-72133120-G-A | c.901G>A | p.E301K | Missense | 7/27 | - | 5 |
16-72133121-A-G | c.902A>G | p.E301G | Missense | 7/27 | - | 1 |
16-72133133-C-A | c.914C>A | p.S305* | Nonsense | 7/27 | - | 1 |
16-72133133-C-G | c.914C>G | p.S305* | Nonsense | 7/27 | - | 2 |
16-72133133-C-T | c.914C>T | p.S305L | Missense | 7/27 | - | 2 |
16-72133141-A-C | c.922A>C | p.T308P | Missense | 7/27 | - | 1 |
16-72133141-A-G | c.922A>G | p.T308A | Missense | 7/27 | - | 1 |
16-72133143-G-A | c.924G>A | p.T308= | Synonymous | 7/27 | - | 1 |
16-72133145-A-G | c.926A>G | p.E309G | Missense | 7/27 | - | 1 |
16-72133152-G-A | c.933G>A | p.E311= | Synonymous | 7/27 | - | 1 |
16-72133153-C-T | c.934C>T | p.R312W | Missense | 7/27 | - | 2 |
16-72133161-G-GACAGATC | c.942_943insACAGATC | p.W315Tfs*6 | Frameshift | 7/27 | - | 1 |
16-72133162-T-A | c.943T>A | p.W315R | Missense | 7/27 | - | 2 |
16-72133162-T-C | c.943T>C | p.W315R | Missense | 7/27 | - | 2 |
16-72133165-G-A | c.946G>A | p.E316K | Missense | 7/27 | - | 1 |
16-72133166-A-G | c.947A>G | p.E316G | Missense | 7/27 | - | 1 |
16-72133168-G-C | c.949G>C | p.D317H | Missense | 7/27 | - | 1 |
16-72133171-G-A | c.952G>A | p.D318N | Missense | 7/27 | - | 6 |
16-72133176-G-C | c.957G>C | p.Q319H | Missense | 7/27 | - | 1 |
16-72133176-G-T | c.957G>T | p.Q319H | Missense | 7/27 | - | 1 |
16-72133177-AG-GC | c.958_959delinsGC | p.R320A | Missense | 7/27 | - | 1 |
16-72133211-G-A | c.960+32G>A | - | IntronicSNV | - | 7/26 | 4 |
16-72133637-CG-C | c.967del | p.D323Ifs*6 | Frameshift | 8/27 | - | 1 |
16-72133638-A-C | c.968A>C | p.D323A | Missense | 8/27 | - | 1 |
16-72133638-A-G | c.968A>G | p.D323G | Missense | 8/27 | - | 1 |
16-72133638-A-T | c.968A>T | p.D323V | Missense | 8/27 | - | 1 |
16-72133640-CG-GA | c.970_971delinsGA | p.R324E | Missense | 8/27 | - | 1 |
16-72133641-G-A | c.971G>A | p.R324Q | Missense | 8/27 | - | 3 |
16-72133641-G-T | c.971G>T | p.R324L | Missense | 8/27 | - | 1 |
16-72133644-A-T | c.974A>T | p.D325V | Missense | 8/27 | - | 1 |
16-72133646-T-C | c.976T>C | p.W326R | Missense | 8/27 | - | 1 |
16-72133646-TG-CA | c.976_977inv | p.W326Q | Missense | 8/27 | - | 1 |
16-72133649-T-C | c.979T>C | p.Y327H | Missense | 8/27 | - | 1 |
16-72133654-G-C | c.984G>C | p.M328I | Missense | 8/27 | - | 1 |
16-72133658-G-A | c.988G>A | p.D330N | Missense | 8/27 | - | 1 |
16-72133665-G-A | c.995G>A | p.G332D | Missense | 8/27 | - | 9 |
16-72133666-C-A | c.996C>A | p.G332= | Synonymous | 8/27 | - | 1 |
16-72133666-C-G | c.996C>G | p.G332= | Synonymous | 8/27 | - | 1 |
16-72133666-C-T | c.996C>T | p.G332= | Synonymous | 8/27 | - | 1 |
16-72133668-A-C | c.998A>C | p.Y333S | Missense | 8/27 | - | 1 |
16-72133670-G-T | c.1000G>T | p.D334Y | Missense | 8/27 | - | 1 |
16-72133673-G-A | c.1003G>A | p.E335K | Missense | 8/27 | - | 1 |
16-72133678-C-T | c.1008C>T | p.F336= | Synonymous | 8/27 | - | 3 |
16-72133686-C-T | c.1016C>T | p.P339L | Missense | 8/27 | - | 1 |
16-72133687-G-A | c.1017G>A | p.P339= | Synonymous | 8/27 | - | 1 |
16-72133687-G-C | c.1017G>C | p.P339= | Synonymous | 8/27 | - | 1 |
16-72133687-G-T | c.1017G>T | p.P339= | Synonymous | 8/27 | - | 1 |
16-72133689-T-A | c.1019T>A | p.L340Q | Missense | 8/27 | - | 1 |
16-72133698-C-A | c.1028C>A | p.S343Y | Missense | 8/27 | - | 2 |
16-72133702-C-A | c.1032C>A | p.S344= | Synonymous | 8/27 | - | 1 |
16-72133702-C-G | c.1032C>G | p.S344= | Synonymous | 8/27 | - | 1 |
16-72133702-C-T | c.1032C>T | p.S344= | Synonymous | 8/27 | - | 1 |
16-72133706-G-A | c.1036G>A | p.D346N | Missense | 8/27 | - | 1 |
16-72133708-C-A | c.1038C>A | p.D346E | Missense | 8/27 | - | 1 |
16-72133711-C-T | c.1041C>T | p.Y347= | Synonymous | 8/27 | - | 3 |
16-72133712-G-A | c.1042G>A | p.V348M | Missense | 8/27 | - | 1 |
16-72133719-G-A | c.1049G>A | p.R350K | Missense | 8/27 | - | 1 |
16-72133721-C-T | c.1051C>T | p.R351W | Missense | 8/27 | - | 1 |
16-72133722-G-A | c.1052G>A | p.R351Q | Missense | 8/27 | - | 1 |
16-72133724-G-T | c.1054G>T | p.E352* | Nonsense | 8/27 | - | 2 |
16-72133732-C-T | c.1062C>T | p.H354= | Synonymous | 8/27 | - | 1 |
16-72133733-C-T | c.1063C>T | p.L355= | Synonymous | 8/27 | - | 1 |
16-72133748-C-A | c.1078C>A | p.Q360K | Missense | 8/27 | - | 1 |
16-72133754-CGC-AAG | c.1084_1086delinsAAG | p.R362K | Missense | 8/27 | - | 1 |
16-72133754-CGC-TGG | c.1084_1086delinsTGG | p.R362W | Missense | 8/27 | - | 1 |
16-72133754-C-T | c.1084C>T | p.R362C | Missense | 8/27 | - | 1 |
16-72133755-G-A | c.1085G>A | p.R362H | Missense | 8/27 | - | 3 |
16-72133755-G-C | c.1085G>C | p.R362P | Missense | 8/27 | - | 1 |
16-72133757-A-G | c.1087A>G | p.I363V | Missense | 8/27 | - | 1 |
16-72133763-G-A | c.1093G>A | p.A365T | Missense | 8/27 | - | 1 |
16-72133770-G-A | c.1100G>A | p.R367Q | Missense | 8/27 | - | 1 |
16-72133770-GG-AT | c.1100_1101delinsAT | p.R367H | Missense | 8/27 | - | 1 |
16-72133773-G-C | c.1103G>C | p.R368T | Missense | 8/27 | - | 1 |
16-72133777-G-A | c.1107G>A | p.Q369= | Synonymous | 8/27 | - | 1 |
16-72133777-G-C | c.1107G>C | p.Q369H | Missense | 8/27 | - | 1 |
16-72133777-G-T | c.1107G>T | p.Q369H | Missense | 8/27 | - | 1 |
16-72133784-G-T | c.1114G>T | p.E372* | Nonsense | 8/27 | - | 1 |
16-72133789-G-A | c.1116+3G>A | - | IntronicSNV | - | 8/26 | 3 |
16-72134335-G-A | c.1117G>A | p.D373N | Missense | 9/27 | - | 1 |
16-72134341-G-A | c.1123G>A | p.E375K | Missense | 9/27 | - | 2 |
16-72134343-G-T | c.1125G>T | p.E375D | Missense | 9/27 | - | 1 |
16-72134345-G-A | c.1127G>A | p.R376H | Missense | 9/27 | - | 1 |
16-72134360-G-A | c.1142G>A | p.R381H | Missense | 9/27 | - | 1 |
16-72134369-C-T | c.1151C>T | p.T384I | Missense | 9/27 | - | 1 |
16-72134370-C-A | c.1152C>A | p.T384= | Synonymous | 9/27 | - | 1 |
16-72134370-C-G | c.1152C>G | p.T384= | Synonymous | 9/27 | - | 1 |
16-72134370-C-T | c.1152C>T | p.T384= | Synonymous | 9/27 | - | 1 |
16-72134377-G-A | c.1159G>A | p.V387M | Missense | 9/27 | - | 1 |
16-72134383-C-T | c.1165C>T | p.H389Y | Missense | 9/27 | - | 2 |
16-72134386-C-T | c.1168C>T | p.R390W | Missense | 9/27 | - | 1 |
16-72134393-A-G | c.1175A>G | p.E392G | Missense | 9/27 | - | 4 |
16-72134396-T-G | c.1178T>G | p.V393G | Missense | 9/27 | - | 1 |
16-72134397-G-A | c.1179G>A | p.V393= | Synonymous | 9/27 | - | 1 |
16-72134399-A-G | c.1181A>G | p.D394G | Missense | 9/27 | - | 1 |
16-72134408-T-C | c.1190T>C | p.F397S | Missense | 9/27 | - | 1 |
16-72134415-G-T | c.1197G>T | p.E399D | Missense | 9/27 | - | 1 |
16-72134416-G-A | c.1198G>A | p.D400N | Missense | 9/27 | - | 3 |
16-72134422-G-A | c.1204G>A | p.A402T | Missense | 9/27 | - | 2 |
16-72134423-C-T | c.1205C>T | p.A402V | Missense | 9/27 | - | 1 |
16-72134423-GC-G | c.1205del | p.A402Gfs*6 | Frameshift | 9/27 | - | 1 |
16-72134427-C-A | c.1209C>A | p.A403= | Synonymous | 9/27 | - | 1 |
16-72134427-C-G | c.1209C>G | p.A403= | Synonymous | 9/27 | - | 1 |
16-72134427-C-T | c.1209C>T | p.A403= | Synonymous | 9/27 | - | 1 |
16-72134433-G-A | c.1215G>A | p.V405= | Synonymous | 9/27 | - | 1 |
16-72134437-C-T | c.1219C>T | p.L407= | Synonymous | 9/27 | - | 1 |
16-72134438-T-G | c.1220T>G | p.L407R | Missense | 9/27 | - | 1 |
16-72134440-A-G | c.1222A>G | p.M408V | Missense | 9/27 | - | 1 |
16-72134443-G-A | c.1225G>A | p.V409M | Missense | 9/27 | - | 1 |
16-72134450-A-T | c.1232A>T | p.N411I | Missense | 9/27 | - | 1 |
16-72134452-C-G | c.1234C>G | p.L412V | Missense | 9/27 | - | 2 |
16-72134461-C-A | c.1243C>A | p.P415T | Missense | 9/27 | - | 1 |
16-72134461-C-G | c.1243C>G | p.P415A | Missense | 9/27 | - | 2 |
16-72134462-C-T | c.1244C>T | p.P415L | Missense | 9/27 | - | 3 |
16-72134463-C-T | c.1245C>T | p.P415= | Synonymous | 9/27 | - | 1 |
16-72134465-T-A | c.1247T>A | p.F416Y | Missense | 9/27 | - | 3 |
16-72134467-C-T | c.1249C>T | p.L417= | Synonymous | 9/27 | - | 1 |
16-72134469-G-A | c.1251G>A | p.L417= | Synonymous | 9/27 | - | 1 |
16-72134469-G-C | c.1251G>C | p.L417= | Synonymous | 9/27 | - | 1 |
16-72134469-G-T | c.1251G>T | p.L417= | Synonymous | 9/27 | - | 1 |
16-72134477-G-A | c.1259G>A | p.R420H | Missense | 9/27 | - | 5 |
16-72134478-C-T | c.1260C>T | p.R420= | Synonymous | 9/27 | - | 1 |
16-72134480-T-A | c.1262T>A | p.I421N | Missense | 9/27 | - | 2 |
16-72134481-T-C | c.1263T>C | p.I421= | Synonymous | 9/27 | - | 1 |
16-72134482-G-A | c.1264G>A | p.V422I | Missense | 9/27 | - | 1 |
16-72134484-C-T | c.1266C>T | p.V422= | Synonymous | 9/27 | - | 1 |
16-72134490-C-A | c.1272C>A | p.T424= | Synonymous | 9/27 | - | 1 |
16-72134490-C-G | c.1272C>G | p.T424= | Synonymous | 9/27 | - | 1 |
16-72134490-C-T | c.1272C>T | p.T424= | Synonymous | 9/27 | - | 1 |
16-72134493-G-A | c.1275G>A | p.K425= | Synonymous | 9/27 | - | 1 |
16-72134831-C-A | c.1279-154C>A | - | IntronicSNV | - | 9/26 | 1 |
16-72134985-C-A | c.1279C>A | p.P427T | Missense | 10/27 | - | 1 |
16-72134987-G-A | c.1281G>A | p.P427= | Synonymous | 10/27 | - | 2 |
16-72134987-G-C | c.1281G>C | p.P427= | Synonymous | 10/27 | - | 2 |
16-72134987-G-T | c.1281G>T | p.P427= | Synonymous | 10/27 | - | 2 |
16-72134988-G-C | c.1282G>C | p.E428Q | Missense | 10/27 | - | 1 |
16-72134993-G-A | c.1287G>A | p.P429= | Synonymous | 10/27 | - | 1 |
16-72134993-G-C | c.1287G>C | p.P429= | Synonymous | 10/27 | - | 1 |
16-72134994-G-A | c.1288G>A | p.V430M | Missense | 10/27 | - | 1 |
16-72134994-G-T | c.1288G>T | p.V430L | Missense | 10/27 | - | 1 |
16-72135009-G-A | c.1303G>A | p.D435N | Missense | 10/27 | - | 1 |
16-72135013-C-T | c.1307C>T | p.A436V | Missense | 10/27 | - | 1 |
16-72135014-T-A | c.1308T>A | p.A436= | Synonymous | 10/27 | - | 4 |
16-72135014-T-C | c.1308T>C | p.A436= | Synonymous | 10/27 | - | 21 |
16-72135014-T-G | c.1308T>G | p.A436= | Synonymous | 10/27 | - | 4 |
16-72135024-C-A | c.1318C>A | p.L440M | Missense | 10/27 | - | 3 |
16-72135027-G-A | c.1321G>A | p.A441T | Missense | 10/27 | - | 2 |
16-72135032-C-T | c.1326C>T | p.I442= | Synonymous | 10/27 | - | 2 |
16-72135039-CG-AA | c.1333_1334delinsAA | p.R445K | Missense | 10/27 | - | 1 |
16-72135040-G-C | c.1334G>C | p.R445P | Missense | 10/27 | - | 1 |
16-72135040-GG-AT | c.1334_1335delinsAT | p.R445H | Missense | 10/27 | - | 1 |
16-72135060-CGG-TGT | c.1354_1356delinsTGT | p.R452C | Missense | 10/27 | - | 1 |
16-72135063-A-G | c.1357A>G | p.K453E | Missense | 10/27 | - | 1 |
16-72135067-A-G | c.1361A>G | p.H454R | Missense | 10/27 | - | 1 |
16-72135068-C-T | c.1362C>T | p.H454= | Synonymous | 10/27 | - | 1 |
16-72135069-A-G | c.1363A>G | p.R455G | Missense | 10/27 | - | 1 |
16-72135069-A-C | c.1363A>C | p.R455= | Synonymous | 10/27 | - | 1 |
16-72135071-G-A | c.1365G>A | p.R455= | Synonymous | 10/27 | - | 1 |
16-72135069-AG-A | c.1366del | p.E456Sfs*23 | Frameshift | 10/27 | - | 1 |
16-72135074-G-A | c.1368G>A | p.E456= | Synonymous | 10/27 | - | 2 |
16-72135075-C-A | c.1369C>A | p.Q457K | Missense | 10/27 | - | 1 |
16-72135081-G-A | c.1375G>A | p.E459K | Missense | 10/27 | - | 1 |
16-72135081-G-C | c.1375G>C | p.E459Q | Missense | 10/27 | - | 1 |
16-72135084-C-T | c.1378C>T | p.R460C | Missense | 10/27 | - | 2 |
16-72135085-G-A | c.1379G>A | p.R460H | Missense | 10/27 | - | 2 |
16-72135087-AAG-A | c.1383_1384del | p.K462Gfs*27 | Frameshift | 10/27 | - | 1 |
16-72135089-G-GT | c.1383_1384insT | p.K462* | Nonsense | 10/27 | - | 2 |
16-72135094-T-C | c.1386+2T>C | - | IntronicSNV | - | 10/26 | 1 |
16-72135109-C-T | c.1386+17C>T | - | IntronicSNV | - | 10/26 | 1 |
16-72135319-T-C | c.1387-80T>C | - | IntronicSNV | - | 10/26 | 3 |
16-72135319-T-G | c.1387-80T>G | - | IntronicSNV | - | 10/26 | 3 |
16-72135400-C-A | c.1388C>A | p.A463D | Missense | 11/27 | - | 1 |
16-72135401-T-A | c.1389T>A | p.A463= | Synonymous | 11/27 | - | 1 |
16-72135401-T-C | c.1389T>C | p.A463= | Synonymous | 11/27 | - | 1 |
16-72135401-T-G | c.1389T>G | p.A463= | Synonymous | 11/27 | - | 1 |
16-72135404-G-T | c.1392G>T | p.Q464H | Missense | 11/27 | - | 1 |
16-72135415-G-A | c.1403G>A | p.W468* | Nonsense | 11/27 | - | 1 |
16-72135416-G-A | c.1404G>A | p.W468* | Nonsense | 11/27 | - | 1 |
16-72135424-C-T | c.1412C>T | p.A471V | Missense | 11/27 | - | 1 |
16-72135425-G-A | c.1413G>A | p.A471= | Synonymous | 11/27 | - | 2 |
16-72135425-G-C | c.1413G>C | p.A471= | Synonymous | 11/27 | - | 2 |
16-72135425-G-T | c.1413G>T | p.A471= | Synonymous | 11/27 | - | 2 |
16-72135427-G-A | c.1415G>A | p.G472E | Missense | 11/27 | - | 1 |
16-72135431-C-CA | c.1422dup | p.L475Tfs*15 | Frameshift | 11/27 | - | 1 |
16-72135441-G-A | c.1429G>A | p.D477N | Missense | 11/27 | - | 2 |
16-72135449-G-A | c.1437G>A | p.M479I | Missense | 11/27 | - | 1 |
16-72135449-G-C | c.1437G>C | p.M479I | Missense | 11/27 | - | 1 |
16-72135449-G-T | c.1437G>T | p.M479I | Missense | 11/27 | - | 1 |
16-72135450-G-GAAAAAAAA | c.1438_1439insAAAAAAAA | p.G480Efs*15 | Frameshift | 11/27 | - | 1 |
16-72135452-C-A | c.1440C>A | p.G480= | Synonymous | 11/27 | - | 1 |
16-72135452-C-G | c.1440C>G | p.G480= | Synonymous | 11/27 | - | 1 |
16-72135452-C-T | c.1440C>T | p.G480= | Synonymous | 11/27 | - | 2 |
16-72135474-G-A | c.1462G>A | p.D488N | Missense | 11/27 | - | 1 |
16-72135487-C-T | c.1475C>T | p.T492M | Missense | 11/27 | - | 11 |
16-72135492-G-A | c.1480G>A | p.D494N | Missense | 11/27 | - | 1 |
16-72135493-A-C | c.1481A>C | p.D494A | Missense | 11/27 | - | 1 |
16-72135496-GG-AC | c.1484_1485delinsAC | p.G495D | Missense | 11/27 | - | 1 |
16-72135707-C-G | c.1499+196C>G | - | IntronicSNV | - | 11/26 | 1 |
16-72136154-G-T | c.1499+643G>T | - | IntronicSNV | - | 11/26 | 1 |
16-72136395-G-A | c.1500-578G>A | - | IntronicSNV | - | 11/26 | 1 |
16-72136769-C-T | c.1500-204C>T | - | IntronicSNV | - | 11/26 | 2 |
16-72136987-T-C | c.1514T>C | p.F505S | Missense | 12/27 | - | 1 |
16-72136992-G-T | c.1519G>T | p.D507Y | Missense | 12/27 | - | 1 |
16-72136993-A-G | c.1520A>G | p.D507G | Missense | 12/27 | - | 1 |
16-72136995-C-T | c.1522C>T | p.H508Y | Missense | 12/27 | - | 2 |
16-72136998-A-C | c.1525A>C | p.M509L | Missense | 12/27 | - | 1 |
16-72136998-A-T | c.1525A>T | p.M509L | Missense | 12/27 | - | 1 |
16-72137003-G-GT | c.1530_1531insT | p.R511* | Nonsense | 12/27 | - | 1 |
16-72137004-AGA-TGT | c.1531_1533delinsTGT | p.R511C | Missense | 12/27 | - | 1 |
16-72137006-A-T | c.1533A>T | p.R511S | Missense | 12/27 | - | 1 |
16-72137007-AA-GC | c.1534_1535delinsGC | p.K512A | Missense | 12/27 | - | 2 |
16-72137008-A-G | c.1535A>G | p.K512R | Missense | 12/27 | - | 1 |
16-72137010-GAGC-G | c.1537_1539del | p.S513del | InFrameDeletion | 12/27 | - | 1 |
16-72137012-C-T | c.1539C>T | p.S513= | Synonymous | 12/27 | - | 1 |
16-72137013-G-A | c.1540G>A | p.E514K | Missense | 12/27 | - | 3 |
16-72137015-A-G | c.1542A>G | p.E514= | Synonymous | 12/27 | - | 1 |
16-72137022-AG-CT | c.1549_1550inv | p.S517L | Missense | 12/27 | - | 1 |
16-72137022-AGT-TGA | c.1549_1551delinsTGA | p.S517* | Nonsense | 12/27 | - | 1 |
16-72137023-G-A | c.1550G>A | p.S517N | Missense | 12/27 | - | 1 |
16-72137036-G-A | c.1563G>A | p.K521= | Synonymous | 12/27 | - | 1 |
16-72137036-G-T | c.1563G>T | p.K521N | Missense | 12/27 | - | 1 |
16-72137038-A-C | c.1565A>C | p.K522T | Missense | 12/27 | - | 1 |
16-72137039-G-T | c.1566G>T | p.K522N | Missense | 12/27 | - | 1 |
16-72137033-AAAG-A | c.1567_1569del | p.K523del | InFrameDeletion | 12/27 | - | 1 |
16-72137043-TC-CG | c.1570_1571delinsCG | p.S524R | Missense | 12/27 | - | 1 |
16-72137044-C-T | c.1571C>T | p.S524F | Missense | 12/27 | - | 1 |
16-72137070-CC-TT | c.1597_1598delinsTT | p.P533F | Missense | 12/27 | - | 1 |
16-72137072-C-A | c.1599C>A | p.P533= | Synonymous | 12/27 | - | 1 |
16-72137074-T-C | c.1601T>C | p.I534T | Missense | 12/27 | - | 2 |
16-72137075-C-A | c.1602C>A | p.I534= | Synonymous | 12/27 | - | 1 |
16-72137080-C-A | c.1607C>A | p.A536E | Missense | 12/27 | - | 1 |
16-72137080-C-T | c.1607C>T | p.A536V | Missense | 12/27 | - | 1 |
16-72137091-G-A | c.1618G>A | p.E540K | Missense | 12/27 | - | 1 |
16-72137099-C-G | c.1626C>G | p.L542= | Synonymous | 12/27 | - | 2 |
16-72137103-A-G | c.1630A>G | p.I544V | Missense | 12/27 | - | 4 |
16-72137107-T-C | c.1634T>C | p.I545T | Missense | 12/27 | - | 1 |
16-72137227-C-A | c.1637+117C>A | - | IntronicSNV | - | 12/26 | 3 |
16-72137504-C-A | c.1641C>A | p.D547E | Missense | 13/27 | - | 1 |
16-72137504-C-G | c.1641C>G | p.D547E | Missense | 13/27 | - | 1 |
16-72137508-A-C | c.1645A>C | p.S549R | Missense | 13/27 | - | 1 |
16-72137510-C-A | c.1647C>A | p.S549R | Missense | 13/27 | - | 1 |
16-72137510-C-G | c.1647C>G | p.S549R | Missense | 13/27 | - | 1 |
16-72137513-C-T | c.1650C>T | p.I550= | Synonymous | 13/27 | - | 1 |
16-72137514-G-A | c.1651G>A | p.V551M | Missense | 13/27 | - | 2 |
16-72137517-A-G | c.1654A>G | p.I552V | Missense | 13/27 | - | 1 |
16-72137519-C-A | c.1656C>A | p.I552= | Synonymous | 13/27 | - | 2 |
16-72137519-C-T | c.1656C>T | p.I552= | Synonymous | 13/27 | - | 4 |
16-72137520-G-A | c.1657G>A | p.V553M | Missense | 13/27 | - | 2 |
16-72137523-G-C | c.1660G>C | p.V554L | Missense | 13/27 | - | 1 |
16-72137525-T-G | c.1662T>G | p.V554= | Synonymous | 13/27 | - | 1 |
16-72137536-G-A | c.1673G>A | p.G558E | Missense | 13/27 | - | 2 |
16-72137543-T-G | c.1680T>G | p.G560= | Synonymous | 13/27 | - | 1 |
16-72137550-A-T | c.1687A>T | p.T563S | Missense | 13/27 | - | 1 |
16-72137551-C-G | c.1688C>G | p.T563S | Missense | 13/27 | - | 1 |
16-72137553-C-G | c.1690C>G | p.Q564E | Missense | 13/27 | - | 1 |
16-72137554-A-T | c.1691A>T | p.Q564L | Missense | 13/27 | - | 1 |
16-72137560-C-T | c.1697C>T | p.T566M | Missense | 13/27 | - | 1 |
16-72137561-G-A | c.1698G>A | p.T566= | Synonymous | 13/27 | - | 19 |
16-72137561-G-C | c.1698G>C | p.T566= | Synonymous | 13/27 | - | 17 |
16-72137561-G-T | c.1698G>T | p.T566= | Synonymous | 13/27 | - | 3 |
16-72137562-C-T | c.1699C>T | p.Q567* | Nonsense | 13/27 | - | 1 |
16-72137571-C-T | c.1708C>T | p.H570Y | Missense | 13/27 | - | 1 |
16-72137571-GC-G | c.1708del | p.H570Mfs*10 | Frameshift | 13/27 | - | 1 |
16-72137576-A-C | c.1713A>C | p.E571D | Missense | 13/27 | - | 1 |
16-72137576-A-T | c.1713A>T | p.E571D | Missense | 13/27 | - | 1 |
16-72137577-G-T | c.1714G>T | p.D572Y | Missense | 13/27 | - | 2 |
16-72137580-G-C | c.1717G>C | p.G573R | Missense | 13/27 | - | 1 |
16-72137588-G-T | c.1725G>T | p.T575= | Synonymous | 13/27 | - | 1 |
16-72137593-A-G | c.1730A>G | p.Y577C | Missense | 13/27 | - | 2 |
16-72137597-G-A | c.1734G>A | p.G578= | Synonymous | 13/27 | - | 1 |
16-72137597-G-C | c.1734G>C | p.G578= | Synonymous | 13/27 | - | 1 |
16-72137597-G-T | c.1734G>T | p.G578= | Synonymous | 13/27 | - | 1 |
16-72137603-T-A | c.1740T>A | p.I580= | Synonymous | 13/27 | - | 2 |
16-72137616-C-A | c.1753C>A | p.P585T | Missense | 13/27 | - | 2 |
16-72137616-C-T | c.1753C>T | p.P585S | Missense | 13/27 | - | 1 |
16-72137620-G-A | c.1757G>A | p.R586Q | Missense | 13/27 | - | 3 |
16-72137623-G-A | c.1760G>A | p.R587H | Missense | 13/27 | - | 2 |
16-72137628-G-A | c.1765G>A | p.A589T | Missense | 13/27 | - | 1 |
16-72137629-C-T | c.1766C>T | p.A589V | Missense | 13/27 | - | 8 |
16-72137632-C-T | c.1769C>T | p.A590V | Missense | 13/27 | - | 2 |
16-72137643-G-A | c.1780G>A | p.A594T | Missense | 13/27 | - | 5 |
16-72137648-G-T | c.1785G>T | p.K595N | Missense | 13/27 | - | 1 |
16-72137650-G-A | c.1787G>A | p.R596K | Missense | 13/27 | - | 1 |
16-72137651-A-C | c.1788A>C | p.R596S | Missense | 13/27 | - | 2 |
16-72137651-A-T | c.1788A>T | p.R596S | Missense | 13/27 | - | 3 |
16-72137661-G-A | c.1798G>A | p.E600K | Missense | 13/27 | - | 1 |
16-72137670-G-A | c.1807G>A | p.G603R | Missense | 13/27 | - | 1 |
16-72137665-TG-T | c.1808del | p.G603Efs*22 | Frameshift | 13/27 | - | 2 |
16-72137671-G-A | c.1808G>A | p.G603E | Missense | 13/27 | - | 3 |
16-72137678-TG-T | c.1817del | p.G606Afs*19 | Frameshift | 13/27 | - | 1 |
16-72137681-C-T | c.1818C>T | p.G606= | Synonymous | 13/27 | - | 2 |
16-72137689-T-G | c.1824+2T>G | - | IntronicSNV | - | 13/26 | 1 |
16-72137808-G-T | c.1825-37G>T | - | IntronicSNV | - | 13/26 | 1 |
16-72137843-AGGTGG-A | c.1825_1829del | p.V609Lfs*6 | SpliceAcceptorDeletion | 14/27 | - | 1 |
16-72137860-CGC-TGG | c.1840_1842delinsTGG | p.R614W | Missense | 14/27 | - | 1 |
16-72137860-C-T | c.1840C>T | p.R614C | Missense | 14/27 | - | 2 |
16-72137861-G-A | c.1841G>A | p.R614H | Missense | 14/27 | - | 2 |
16-72137877-T-A | c.1857T>A | p.T619= | Synonymous | 14/27 | - | 1 |
16-72137877-T-C | c.1857T>C | p.T619= | Synonymous | 14/27 | - | 2 |
16-72137877-T-G | c.1857T>G | p.T619= | Synonymous | 14/27 | - | 1 |
16-72137879-C-T | c.1859C>T | p.S620L | Missense | 14/27 | - | 2 |
16-72137880-A-G | c.1860A>G | p.S620= | Synonymous | 14/27 | - | 1 |
16-72137885-A-G | c.1865A>G | p.N622S | Missense | 14/27 | - | 1 |
16-72137887-A-T | c.1867A>T | p.T623S | Missense | 14/27 | - | 1 |
16-72137888-C-G | c.1868C>G | p.T623S | Missense | 14/27 | - | 4 |
16-72137888-C-T | c.1868C>T | p.T623I | Missense | 14/27 | - | 1 |
16-72137889-C-A | c.1869C>A | p.T623= | Synonymous | 14/27 | - | 1 |
16-72137889-C-G | c.1869C>G | p.T623= | Synonymous | 14/27 | - | 1 |
16-72137889-C-T | c.1869C>T | p.T623= | Synonymous | 14/27 | - | 1 |
16-72137893-A-T | c.1873A>T | p.I625F | Missense | 14/27 | - | 1 |
16-72137895-C-G | c.1875C>G | p.I625M | Missense | 14/27 | - | 1 |
16-72137904-G-A | c.1884G>A | p.M628I | Missense | 14/27 | - | 1 |
16-72137910-C-T | c.1890C>T | p.D630= | Synonymous | 14/27 | - | 1 |
16-72137911-G-T | c.1891G>T | p.G631W | Missense | 14/27 | - | 1 |
16-72137913-G-A | c.1893G>A | p.G631= | Synonymous | 14/27 | - | 2 |
16-72137913-G-C | c.1893G>C | p.G631= | Synonymous | 14/27 | - | 1 |
16-72137913-G-T | c.1893G>T | p.G631= | Synonymous | 14/27 | - | 1 |
16-72137922-C-A | c.1902C>A | p.L634= | Synonymous | 14/27 | - | 1 |
16-72137922-C-G | c.1902C>G | p.L634= | Synonymous | 14/27 | - | 1 |
16-72137922-C-T | c.1902C>T | p.L634= | Synonymous | 14/27 | - | 2 |
16-72137923-CG-AA | c.1903_1904delinsAA | p.R635K | Missense | 14/27 | - | 1 |
16-72137931-C-T | c.1911C>T | p.S637= | Synonymous | 14/27 | - | 3 |
16-72137933-T-C | c.1913T>C | p.L638P | Missense | 14/27 | - | 1 |
16-72137934-C-A | c.1914C>A | p.L638= | Synonymous | 14/27 | - | 1 |
16-72137934-C-G | c.1914C>G | p.L638= | Synonymous | 14/27 | - | 1 |
16-72137934-C-T | c.1914C>T | p.L638= | Synonymous | 14/27 | - | 2 |
16-72137935-C-T | c.1915C>T | p.R639W | Missense | 14/27 | - | 2 |
16-72137936-G-A | c.1916G>A | p.R639Q | Missense | 14/27 | - | 1 |
16-72137942-C-T | c.1922C>T | p.A641V | Missense | 14/27 | - | 1 |
16-72137943-C-A | c.1923C>A | p.A641= | Synonymous | 14/27 | - | 1 |
16-72137943-C-G | c.1923C>G | p.A641= | Synonymous | 14/27 | - | 1 |
16-72137943-C-T | c.1923C>T | p.A641= | Synonymous | 14/27 | - | 1 |
16-72137944-G-A | c.1924G>A | p.D642N | Missense | 14/27 | - | 1 |
16-72137947-C-T | c.1927C>T | p.L643= | Synonymous | 14/27 | - | 1 |
16-72137965-A-G | c.1945A>G | p.I649V | Missense | 14/27 | - | 1 |
16-72137967-C-A | c.1947C>A | p.I649= | Synonymous | 14/27 | - | 1 |
16-72137967-C-T | c.1947C>T | p.I649= | Synonymous | 14/27 | - | 1 |
16-72137975-A-C | c.1955A>C | p.D652A | Missense | 14/27 | - | 3 |
16-72137975-A-G | c.1955A>G | p.D652G | Missense | 14/27 | - | 1 |
16-72137976-C-T | c.1956C>T | p.D652= | Synonymous | 14/27 | - | 1 |
16-72137977-G-T | c.1957G>T | p.E653* | Nonsense | 14/27 | - | 1 |
16-72137985-C-T | c.1965C>T | p.H655= | Synonymous | 14/27 | - | 1 |
16-72137986-G-A | c.1966G>A | p.E656K | Missense | 14/27 | - | 1 |
16-72137989-C-T | c.1969C>T | p.R657C | Missense | 14/27 | - | 1 |
16-72137990-G-A | c.1970G>A | p.R657H | Missense | 14/27 | - | 1 |
16-72137991-C-T | c.1971C>T | p.R657= | Synonymous | 14/27 | - | 1 |
16-72137993-C-G | c.1973C>G | p.S658C | Missense | 14/27 | - | 1 |
16-72137994-C-A | c.1974C>A | p.S658= | Synonymous | 14/27 | - | 1 |
16-72137994-C-G | c.1974C>G | p.S658= | Synonymous | 14/27 | - | 1 |
16-72137994-C-T | c.1974C>T | p.S658= | Synonymous | 14/27 | - | 1 |
16-72137996-T-C | c.1976T>C | p.L659P | Missense | 14/27 | - | 1 |
16-72137996-T-G | c.1976T>G | p.L659R | Missense | 14/27 | - | 1 |
16-72137997-C-T | c.1977C>T | p.L659= | Synonymous | 14/27 | - | 4 |
16-72138003-T-C | c.1983T>C | p.T661= | Synonymous | 14/27 | - | 1 |
16-72138003-T-G | c.1983T>G | p.T661= | Synonymous | 14/27 | - | 1 |
16-72138006-C-T | c.1986C>T | p.D662= | Synonymous | 14/27 | - | 2 |
16-72138012-C-A | c.1992C>A | p.L664= | Synonymous | 14/27 | - | 2 |
16-72138012-C-G | c.1992C>G | p.L664= | Synonymous | 14/27 | - | 3 |
16-72138012-C-T | c.1992C>T | p.L664= | Synonymous | 14/27 | - | 3 |
16-72138016-G-A | c.1996G>A | p.G666R | Missense | 14/27 | - | 1 |
16-72138022-CTC-ATG | c.2002_2004delinsATG | p.L668M | Missense | 14/27 | - | 1 |
16-72138025-C-T | c.2005C>T | p.R669W | Missense | 14/27 | - | 3 |
16-72138026-G-A | c.2006G>A | p.R669Q | Missense | 14/27 | - | 1 |
16-72138028-G-T | c.2008G>T | p.E670* | Nonsense | 14/27 | - | 1 |
16-72138029-A-C | c.2009A>C | p.E670A | Missense | 14/27 | - | 2 |
16-72138112-G-T | c.2010+82G>T | - | IntronicSNV | - | 14/26 | 3 |
16-72138389-T-G | c.2015T>G | p.V672G | Missense | 15/27 | - | 1 |
16-72138392-C-T | c.2018C>T | p.A673V | Missense | 15/27 | - | 1 |
16-72138394-C-T | c.2020C>T | p.R674W | Missense | 15/27 | - | 5 |
16-72138395-G-A | c.2021G>A | p.R674Q | Missense | 15/27 | - | 1 |
16-72138398-G-A | c.2024G>A | p.R675H | Missense | 15/27 | - | 2 |
16-72138403-G-C | c.2029G>C | p.D677H | Missense | 15/27 | - | 1 |
16-72138417-C-A | c.2043C>A | p.I681= | Synonymous | 15/27 | - | 1 |
16-72138417-C-T | c.2043C>T | p.I681= | Synonymous | 15/27 | - | 2 |
16-72138418-G-A | c.2044G>A | p.V682I | Missense | 15/27 | - | 3 |
16-72138427-G-A | c.2053G>A | p.A685T | Missense | 15/27 | - | 1 |
16-72138431-C-T | c.2057C>T | p.T686M | Missense | 15/27 | - | 1 |
16-72138432-G-A | c.2058G>A | p.T686= | Synonymous | 15/27 | - | 1 |
16-72138441-G-A | c.2067G>A | p.A689= | Synonymous | 15/27 | - | 1 |
16-72138457-T-C | c.2083T>C | p.F695L | Missense | 15/27 | - | 1 |
16-72138459-T-A | c.2085T>A | p.F695L | Missense | 15/27 | - | 1 |
16-72138459-T-G | c.2085T>G | p.F695L | Missense | 15/27 | - | 1 |
16-72138456-C-CT | c.2088dup | p.G697Wfs*16 | Frameshift | 15/27 | - | 4 |
16-72138456-CT-C | c.2088del | p.F696Lfs*33 | Frameshift | 15/27 | - | 2 |
16-72138467-A-G | c.2093A>G | p.N698S | Missense | 15/27 | - | 1 |
16-72138471-C-T | c.2097C>T | p.V699= | Synonymous | 15/27 | - | 1 |
16-72138472-C-T | c.2098C>T | p.P700S | Missense | 15/27 | - | 1 |
16-72138473-C-T | c.2099C>T | p.P700L | Missense | 15/27 | - | 1 |
16-72138492-C-T | c.2118C>T | p.G706= | Synonymous | 15/27 | - | 1 |
16-72138493-CG-AC | c.2119_2120delinsAC | p.R707T | Missense | 15/27 | - | 1 |
16-72138494-G-A | c.2120G>A | p.R707H | Missense | 15/27 | - | 1 |
16-72138496-A-G | c.2122A>G | p.T708A | Missense | 15/27 | - | 1 |
16-72138505-G-A | c.2131G>A | p.V711I | Missense | 15/27 | - | 1 |
16-72138509-A-T | c.2135A>T | p.D712V | Missense | 15/27 | - | 1 |
16-72138516-C-G | c.2142C>G | p.L714= | Synonymous | 15/27 | - | 1 |
16-72138517-T-C | c.2143T>C | p.F715L | Missense | 15/27 | - | 2 |
16-72138519-C-T | c.2145C>T | p.F715= | Synonymous | 15/27 | - | 1 |
16-72138927-C-T | c.2153C>T | p.T718I | Missense | 16/27 | - | 2 |
16-72138929-C-T | c.2155C>T | p.P719S | Missense | 16/27 | - | 1 |
16-72138934-G-A | c.2160G>A | p.Q720= | Synonymous | 16/27 | - | 1 |
16-72138942-A-G | c.2168A>G | p.Y723C | Missense | 16/27 | - | 1 |
16-72138943-C-A | c.2169C>A | p.Y723* | Nonsense | 16/27 | - | 1 |
16-72138958-G-A | c.2184G>A | p.V728= | Synonymous | 16/27 | - | 1 |
16-72138958-G-C | c.2184G>C | p.V728= | Synonymous | 16/27 | - | 1 |
16-72138958-G-T | c.2184G>T | p.V728= | Synonymous | 16/27 | - | 1 |
16-72138961-G-A | c.2187G>A | p.K729= | Synonymous | 16/27 | - | 3 |
16-72138966-C-T | c.2192C>T | p.S731F | Missense | 16/27 | - | 4 |
16-72138975-T-C | c.2201T>C | p.V734A | Missense | 16/27 | - | 1 |
16-72138979-C-A | c.2205C>A | p.H735Q | Missense | 16/27 | - | 1 |
16-72138979-C-G | c.2205C>G | p.H735Q | Missense | 16/27 | - | 1 |
16-72138984-C-T | c.2210C>T | p.S737L | Missense | 16/27 | - | 4 |
16-72138987-G-T | c.2213G>T | p.G738V | Missense | 16/27 | - | 1 |
16-72138984-CG-C | c.2215del | p.A739Pfs*17 | Frameshift | 16/27 | - | 2 |
16-72138989-G-A | c.2215G>A | p.A739T | Missense | 16/27 | - | 1 |
16-72138993-C-T | c.2219C>T | p.P740L | Missense | 16/27 | - | 1 |
16-72138995-G-A | c.2221G>A | p.G741R | Missense | 16/27 | - | 1 |
16-72139006-T-G | c.2232T>G | p.L744= | Synonymous | 16/27 | - | 1 |
16-72139010-T-C | c.2236T>C | p.F746L | Missense | 16/27 | - | 1 |
16-72139012-C-T | c.2238C>T | p.F746= | Synonymous | 16/27 | - | 1 |
16-72139016-C-T | c.2242C>T | p.P748S | Missense | 16/27 | - | 2 |
16-72139018-T-A | c.2244T>A | p.P748= | Synonymous | 16/27 | - | 1 |
16-72139025-G-C | c.2251G>C | p.E751Q | Missense | 16/27 | - | 1 |
16-72139032-T-C | c.2258T>C | p.I753T | Missense | 16/27 | - | 1 |
16-72139034-G-T | c.2260G>T | p.E754* | Nonsense | 16/27 | - | 3 |
16-72139138-C-A | c.2270C>A | p.S757* | Nonsense | 17/27 | - | 1 |
16-72139138-C-G | c.2270C>G | p.S757* | Nonsense | 17/27 | - | 2 |
16-72139143-C-A | c.2275C>A | p.Q759K | Missense | 17/27 | - | 1 |
16-72139143-C-T | c.2275C>T | p.Q759* | Nonsense | 17/27 | - | 1 |
16-72139145-G-C | c.2277G>C | p.Q759H | Missense | 17/27 | - | 1 |
16-72139145-G-T | c.2277G>T | p.Q759H | Missense | 17/27 | - | 1 |
16-72139161-G-A | c.2293G>A | p.E765K | Missense | 17/27 | - | 1 |
16-72139175-C-T | c.2307C>T | p.N769= | Synonymous | 17/27 | - | 1 |
16-72139178-G-A | c.2310G>A | p.A770= | Synonymous | 17/27 | - | 1 |
16-72139178-G-C | c.2310G>C | p.A770= | Synonymous | 17/27 | - | 1 |
16-72139178-G-T | c.2310G>T | p.A770= | Synonymous | 17/27 | - | 1 |
16-72139184-C-A | c.2316C>A | p.A772= | Synonymous | 17/27 | - | 18 |
16-72139184-C-G | c.2316C>G | p.A772= | Synonymous | 17/27 | - | 2 |
16-72139184-C-T | c.2316C>T | p.A772= | Synonymous | 17/27 | - | 2 |
16-72139188-G-A | c.2320G>A | p.A774T | Missense | 17/27 | - | 1 |
16-72139197-C-T | c.2329C>T | p.P777S | Missense | 17/27 | - | 1 |
16-72139200-A-G | c.2332A>G | p.I778V | Missense | 17/27 | - | 2 |
16-72139215-C-T | c.2347C>T | p.P783S | Missense | 17/27 | - | 2 |
16-72139238-C-G | c.2370C>G | p.I790M | Missense | 17/27 | - | 2 |
16-72139242-CCAG-C | c.2374_2376del | p.Q792del | InFrameDeletion | 17/27 | - | 1 |
16-72139299-C-T | c.2379+52C>T | - | IntronicSNV | - | 17/26 | 1 |
16-72139359-C-A | c.2380-57C>A | - | IntronicSNV | - | 17/26 | 1 |
16-72139359-C-T | c.2380-57C>T | - | IntronicSNV | - | 17/26 | 1 |
16-72139396-T-C | c.2380-20T>C | - | IntronicSNV | - | 17/26 | 8 |
16-72139420-C-T | c.2384C>T | p.P795L | Missense | 18/27 | - | 1 |
16-72139423-A-C | c.2387A>C | p.D796A | Missense | 18/27 | - | 1 |
16-72139427-C-T | c.2391C>T | p.G797= | Synonymous | 18/27 | - | 1 |
16-72139428-G-A | c.2392G>A | p.V798I | Missense | 18/27 | - | 2 |
16-72139428-G-C | c.2392G>C | p.V798L | Missense | 18/27 | - | 1 |
16-72139430-T-A | c.2394T>A | p.V798= | Synonymous | 18/27 | - | 1 |
16-72139430-T-C | c.2394T>C | p.V798= | Synonymous | 18/27 | - | 1 |
16-72139430-T-G | c.2394T>G | p.V798= | Synonymous | 18/27 | - | 1 |
16-72139432-G-A | c.2396G>A | p.R799Q | Missense | 18/27 | - | 3 |
16-72139433-G-A | c.2397G>A | p.R799= | Synonymous | 18/27 | - | 1 |
16-72139435-A-T | c.2399A>T | p.K800M | Missense | 18/27 | - | 1 |
16-72139437-TG-AC | c.2401_2402delinsAC | p.C801T | Missense | 18/27 | - | 1 |
16-72139442-C-A | c.2406C>A | p.I802= | Synonymous | 18/27 | - | 2 |
16-72139442-C-T | c.2406C>T | p.I802= | Synonymous | 18/27 | - | 2 |
16-72139443-G-A | c.2407G>A | p.V803I | Missense | 18/27 | - | 2 |
16-72139446-G-A | c.2410G>A | p.A804T | Missense | 18/27 | - | 1 |
16-72139448-C-A | c.2412C>A | p.A804= | Synonymous | 18/27 | - | 1 |
16-72139448-C-G | c.2412C>G | p.A804= | Synonymous | 18/27 | - | 1 |
16-72139448-C-T | c.2412C>T | p.A804= | Synonymous | 18/27 | - | 1 |
16-72139458-G-A | c.2422G>A | p.A808T | Missense | 18/27 | - | 2 |
16-72139460-C-T | c.2424C>T | p.A808= | Synonymous | 18/27 | - | 1 |
16-72139463-G-A | c.2427G>A | p.E809= | Synonymous | 18/27 | - | 1 |
16-72139466-G-A | c.2430G>A | p.T810= | Synonymous | 18/27 | - | 1 |
16-72139466-G-C | c.2430G>C | p.T810= | Synonymous | 18/27 | - | 1 |
16-72139466-G-T | c.2430G>T | p.T810= | Synonymous | 18/27 | - | 1 |
16-72139470-C-A | c.2434C>A | p.L812I | Missense | 18/27 | - | 1 |
16-72139470-C-G | c.2434C>G | p.L812V | Missense | 18/27 | - | 1 |
16-72139473-A-G | c.2437A>G | p.T813A | Missense | 18/27 | - | 1 |
16-72139476-G-A | c.2440G>A | p.V814I | Missense | 18/27 | - | 1 |
16-72139478-T-C | c.2442T>C | p.V814= | Synonymous | 18/27 | - | 1 |
16-72139481-C-T | c.2445C>T | p.D815= | Synonymous | 18/27 | - | 1 |
16-72139482-G-A | c.2446G>A | p.G816S | Missense | 18/27 | - | 1 |
16-72139489-T-C | c.2453T>C | p.M818T | Missense | 18/27 | - | 1 |
16-72139490-G-A | c.2454G>A | p.M818I | Missense | 18/27 | - | 1 |
16-72139499-C-A | c.2463C>A | p.I821= | Synonymous | 18/27 | - | 1 |
16-72139499-C-T | c.2463C>T | p.I821= | Synonymous | 18/27 | - | 3 |
16-72139507-G-T | c.2471G>T | p.G824V | Missense | 18/27 | - | 3 |
16-72139508-T-A | c.2472T>A | p.G824= | Synonymous | 18/27 | - | 1 |
16-72139510-A-G | c.2474A>G | p.Y825C | Missense | 18/27 | - | 1 |
16-72139511-T-C | c.2475T>C | p.Y825= | Synonymous | 18/27 | - | 1 |
16-72139514-C-T | c.2478C>T | p.C826= | Synonymous | 18/27 | - | 1 |
16-72139529-A-T | c.2487+6A>T | - | IntronicSNV | - | 18/26 | 1 |
16-72139537-T-C | c.2487+14T>C | - | IntronicSNV | - | 18/26 | 8 |
16-72139877-C-T | c.2488-27C>T | - | IntronicSNV | - | 18/26 | 1 |
16-72139913-C-T | c.2497C>T | p.P833S | Missense | 19/27 | - | 1 |
16-72139916-A-G | c.2500A>G | p.R834G | Missense | 19/27 | - | 1 |
16-72139917-G-A | c.2501G>A | p.R834K | Missense | 19/27 | - | 1 |
16-72139918-G-A | c.2502G>A | p.R834= | Synonymous | 19/27 | - | 1 |
16-72139919-A-G | c.2503A>G | p.I835V | Missense | 19/27 | - | 1 |
16-72139920-T-A | c.2504T>A | p.I835N | Missense | 19/27 | - | 3 |
16-72139920-T-C | c.2504T>C | p.I835T | Missense | 19/27 | - | 1 |
16-72139923-G-T | c.2507G>T | p.G836V | Missense | 19/27 | - | 4 |
16-72139929-A-G | c.2513A>G | p.D838G | Missense | 19/27 | - | 4 |
16-72139930-T-C | c.2514T>C | p.D838= | Synonymous | 19/27 | - | 2 |
16-72139934-CTG-ATC | c.2518_2520delinsATC | p.L840I | Missense | 19/27 | - | 1 |
16-72139941-T-C | c.2525T>C | p.I842T | Missense | 19/27 | - | 1 |
16-72139942-C-A | c.2526C>A | p.I842= | Synonymous | 19/27 | - | 1 |
16-72139942-C-T | c.2526C>T | p.I842= | Synonymous | 19/27 | - | 2 |
16-72139946-C-G | c.2530C>G | p.P844A | Missense | 19/27 | - | 1 |
16-72139947-C-T | c.2531C>T | p.P844L | Missense | 19/27 | - | 1 |
16-72139948-C-T | c.2532C>T | p.P844= | Synonymous | 19/27 | - | 3 |
16-72139955-C-G | c.2539C>G | p.Q847E | Missense | 19/27 | - | 1 |
16-72139961-A-G | c.2545A>G | p.N849D | Missense | 19/27 | - | 1 |
16-72139963-T-C | c.2547T>C | p.N849= | Synonymous | 19/27 | - | 1 |
16-72139969-C-T | c.2553C>T | p.N851= | Synonymous | 19/27 | - | 1 |
16-72139971-A-G | c.2555A>G | p.Q852R | Missense | 19/27 | - | 1 |
16-72139971-A-T | c.2555A>T | p.Q852L | Missense | 19/27 | - | 1 |
16-72139973-C-A | c.2557C>A | p.R853= | Synonymous | 19/27 | - | 1 |
16-72139973-CGG-TGT | c.2557_2559delinsTGT | p.R853C | Missense | 19/27 | - | 1 |
16-72139973-C-T | c.2557C>T | p.R853W | Missense | 19/27 | - | 2 |
16-72139974-G-A | c.2558G>A | p.R853Q | Missense | 19/27 | - | 2 |
16-72139977-C-A | c.2561C>A | p.S854* | Nonsense | 19/27 | - | 1 |
16-72139977-C-G | c.2561C>G | p.S854* | Nonsense | 19/27 | - | 1 |
16-72139983-GA-AT | c.2567_2568delinsAT | p.R856H | Missense | 19/27 | - | 1 |
16-72139988-G-C | c.2572G>C | p.G858R | Missense | 19/27 | - | 2 |
16-72139991-AG-CA | c.2575_2576delinsCA | p.R859Q | Missense | 19/27 | - | 2 |
16-72139992-G-A | c.2576G>A | p.R859K | Missense | 19/27 | - | 1 |
16-72139991-A-C | c.2575A>C | p.R859= | Synonymous | 19/27 | - | 1 |
16-72139993-G-A | c.2577G>A | p.R859= | Synonymous | 19/27 | - | 1 |
16-72139995-C-T | c.2579C>T | p.T860M | Missense | 19/27 | - | 1 |
16-72139996-G-A | c.2580G>A | p.T860= | Synonymous | 19/27 | - | 1 |
16-72139999-C-T | c.2583C>T | p.G861= | Synonymous | 19/27 | - | 1 |
16-72140001-C-CA | c.2586dup | p.G863Rfs*15 | Frameshift | 19/27 | - | 1 |
16-72140005-T-C | c.2589T>C | p.G863= | Synonymous | 19/27 | - | 1 |
16-72140009-TG-AC | c.2593_2594delinsAC | p.C865T | Missense | 19/27 | - | 1 |
16-72140010-G-A | c.2594G>A | p.C865Y | Missense | 19/27 | - | 1 |
16-72140016-G-A | c.2600G>A | p.R867K | Missense | 19/27 | - | 1 |
16-72140553-G-A | c.2600+537G>A | - | IntronicSNV | - | 19/26 | 1 |
16-72141035-A-G | c.2601-204A>G | - | IntronicSNV | - | 19/26 | 1 |
16-72141249-C-T | c.2611C>T | p.Q871* | Nonsense | 20/27 | - | 2 |
16-72141254-C-T | c.2616C>T | p.S872= | Synonymous | 20/27 | - | 1 |
16-72141255-G-A | c.2617G>A | p.A873T | Missense | 20/27 | - | 3 |
16-72141255-G-T | c.2617G>T | p.A873S | Missense | 20/27 | - | 1 |
16-72141259-A-G | c.2621A>G | p.Y874C | Missense | 20/27 | - | 1 |
16-72141263-G-C | c.2625G>C | p.K875N | Missense | 20/27 | - | 1 |
16-72141263-G-T | c.2625G>T | p.K875N | Missense | 20/27 | - | 1 |
16-72141265-A-G | c.2627A>G | p.N876S | Missense | 20/27 | - | 1 |
16-72141267-G-T | c.2629G>T | p.E877* | Nonsense | 20/27 | - | 1 |
16-72141278-C-T | c.2640C>T | p.T880= | Synonymous | 20/27 | - | 1 |
16-72141280-C-T | c.2642C>T | p.T881I | Missense | 20/27 | - | 1 |
16-72141283-C-T | c.2645C>T | p.T882I | Missense | 20/27 | - | 1 |
16-72141284-A-C | c.2646A>C | p.T882= | Synonymous | 20/27 | - | 1 |
16-72141284-A-G | c.2646A>G | p.T882= | Synonymous | 20/27 | - | 1 |
16-72141284-A-T | c.2646A>T | p.T882= | Synonymous | 20/27 | - | 1 |
16-72141291-G-A | c.2653G>A | p.E885K | Missense | 20/27 | - | 1 |
16-72141299-G-C | c.2661G>C | p.Q887H | Missense | 20/27 | - | 1 |
16-72141299-G-T | c.2661G>T | p.Q887H | Missense | 20/27 | - | 1 |
16-72141303-A-ATTGTTCTCTTTCCCCGTTTTCTTTCTTTCTTTCTTT | c.2665_2666insTTGTTCTCTTTCCCCGTTTTCTTTCTTTCTTTCTTT | p.T889delinsIVLFPRFLSFFLS | MultiAAMissense | 20/27 | - | 1 |
16-72141318-G-A | c.2680G>A | p.V894M | Missense | 20/27 | - | 1 |
16-72141319-T-A | c.2681T>A | p.V894E | Missense | 20/27 | - | 1 |
16-72141330-C-T | c.2692C>T | p.L898F | Missense | 20/27 | - | 1 |
16-72141334-A-G | c.2696A>G | p.K899R | Missense | 20/27 | - | 1 |
16-72141341-C-G | c.2703C>G | p.L901= | Synonymous | 20/27 | - | 1 |
16-72141341-C-T | c.2703C>T | p.L901= | Synonymous | 20/27 | - | 3 |
16-72141344-G-C | c.2706G>C | p.G902= | Synonymous | 20/27 | - | 1 |
16-72141351-G-A | c.2713G>A | p.D905N | Missense | 20/27 | - | 1 |
16-72141353-C-A | c.2715C>A | p.D905E | Missense | 20/27 | - | 7 |
16-72141353-C-G | c.2715C>G | p.D905E | Missense | 20/27 | - | 4 |
16-72141354-C-T | c.2716C>T | p.L906= | Synonymous | 20/27 | - | 1 |
16-72141356-G-A | c.2718G>A | p.L906= | Synonymous | 20/27 | - | 1 |
16-72141356-G-C | c.2718G>C | p.L906= | Synonymous | 20/27 | - | 1 |
16-72141356-G-T | c.2718G>T | p.L906= | Synonymous | 20/27 | - | 1 |
16-72141357-CTG-TTT | c.2719_2721delinsTTT | p.L907F | Missense | 20/27 | - | 1 |
16-72141362-G-A | c.2724G>A | p.Q908= | Synonymous | 20/27 | - | 1 |
16-72141366-C-T | c.2728C>T | p.H910Y | Missense | 20/27 | - | 2 |
16-72141371-C-T | c.2733C>T | p.F911= | Synonymous | 20/27 | - | 1 |
16-72141377-C-T | c.2739C>T | p.D913= | Synonymous | 20/27 | - | 1 |
16-72141379-C-T | c.2741C>T | p.P914L | Missense | 20/27 | - | 1 |
16-72141380-G-A | c.2742G>A | p.P914= | Synonymous | 20/27 | - | 1 |
16-72141381-C-T | c.2743C>T | p.P915S | Missense | 20/27 | - | 2 |
16-72141383-C-T | c.2745C>T | p.P915= | Synonymous | 20/27 | - | 3 |
16-72141384-C-T | c.2746C>T | p.P916S | Missense | 20/27 | - | 2 |
16-72141386-G-A | c.2748G>A | p.P916= | Synonymous | 20/27 | - | 1 |
16-72141386-G-C | c.2748G>C | p.P916= | Synonymous | 20/27 | - | 1 |
16-72141386-G-T | c.2748G>T | p.P916= | Synonymous | 20/27 | - | 3 |
16-72141389-G-A | c.2751G>A | p.E917= | Synonymous | 20/27 | - | 1 |
16-72141390-G-A | c.2752G>A | p.D918N | Missense | 20/27 | - | 1 |
16-72141399-C-G | c.2761C>G | p.L921V | Missense | 20/27 | - | 1 |
16-72141399-C-T | c.2761C>T | p.L921F | Missense | 20/27 | - | 1 |
16-72141403-A-G | c.2765A>G | p.N922S | Missense | 20/27 | - | 1 |
16-72141407-T-C | c.2769T>C | p.S923= | Synonymous | 20/27 | - | 1 |
16-72141409-T-A | c.2771T>A | p.M924K | Missense | 20/27 | - | 3 |
16-72141413-T-C | c.2775T>C | p.Y925= | Synonymous | 20/27 | - | 1 |
16-72141414-C-T | c.2776C>T | p.Q926* | Nonsense | 20/27 | - | 1 |
16-72141420-T-G | c.2782T>G | p.W928G | Missense | 20/27 | - | 1 |
16-72141430-G-C | c.2792G>C | p.G931A | Missense | 20/27 | - | 1 |
16-72141431-G-A | c.2793G>A | p.G931= | Synonymous | 20/27 | - | 1 |
16-72141432-G-A | c.2794G>A | p.A932T | Missense | 20/27 | - | 1 |
16-72141433-C-T | c.2795C>T | p.A932V | Missense | 20/27 | - | 2 |
16-72141441-A-C | c.2803A>C | p.N935H | Missense | 20/27 | - | 1 |
16-72141442-A-C | c.2804A>C | p.N935T | Missense | 20/27 | - | 3 |
16-72141443-C-A | c.2805C>A | p.N935K | Missense | 20/27 | - | 1 |
16-72141443-C-G | c.2805C>G | p.N935K | Missense | 20/27 | - | 1 |
16-72141546-G-C | c.2812G>C | p.G938R | Missense | 21/27 | - | 1 |
16-72141550-T-G | c.2816T>G | p.L939R | Missense | 21/27 | - | 1 |
16-72141554-C-T | c.2820C>T | p.T940= | Synonymous | 21/27 | - | 1 |
16-72141561-G-T | c.2827G>T | p.G943W | Missense | 21/27 | - | 1 |
16-72141562-G-A | c.2828G>A | p.G943E | Missense | 21/27 | - | 1 |
16-72141564-C-T | c.2830C>T | p.R944W | Missense | 21/27 | - | 2 |
16-72141565-G-A | c.2831G>A | p.R944Q | Missense | 21/27 | - | 1 |
16-72141572-G-A | c.2838G>A | p.M946I | Missense | 21/27 | - | 1 |
16-72141572-G-C | c.2838G>C | p.M946I | Missense | 21/27 | - | 1 |
16-72141572-G-T | c.2838G>T | p.M946I | Missense | 21/27 | - | 1 |
16-72141580-T-G | c.2846T>G | p.F949C | Missense | 21/27 | - | 1 |
16-72141581-C-T | c.2847C>T | p.F949= | Synonymous | 21/27 | - | 1 |
16-72141583-C-A | c.2849C>A | p.P950Q | Missense | 21/27 | - | 4 |
16-72141583-C-T | c.2849C>T | p.P950L | Missense | 21/27 | - | 1 |
16-72141584-G-A | c.2850G>A | p.P950= | Synonymous | 21/27 | - | 1 |
16-72141584-G-C | c.2850G>C | p.P950= | Synonymous | 21/27 | - | 1 |
16-72141584-G-T | c.2850G>T | p.P950= | Synonymous | 21/27 | - | 1 |
16-72141588-G-A | c.2854G>A | p.D952N | Missense | 21/27 | - | 1 |
16-72141605-G-A | c.2871G>A | p.K957= | Synonymous | 21/27 | - | 2 |
16-72141613-T-C | c.2879T>C | p.I960T | Missense | 21/27 | - | 1 |
16-72141614-C-T | c.2880C>T | p.I960= | Synonymous | 21/27 | - | 4 |
16-72141615-G-A | c.2881G>A | p.V961M | Missense | 21/27 | - | 1 |
16-72141621-T-C | c.2887T>C | p.C963R | Missense | 21/27 | - | 1 |
16-72141624-G-A | c.2890G>A | p.D964N | Missense | 21/27 | - | 1 |
16-72141640-C-A | c.2906C>A | p.S969Y | Missense | 21/27 | - | 1 |
16-72141640-C-T | c.2906C>T | p.S969F | Missense | 21/27 | - | 9 |
16-72141642-G-A | c.2908G>A | p.E970K | Missense | 21/27 | - | 3 |
16-72141646-T-A | c.2912T>A | p.I971N | Missense | 21/27 | - | 1 |
16-72141647-C-A | c.2913C>A | p.I971= | Synonymous | 21/27 | - | 2 |
16-72141647-C-T | c.2913C>T | p.I971= | Synonymous | 21/27 | - | 1 |
16-72141648-C-A | c.2914C>A | p.L972M | Missense | 21/27 | - | 1 |
16-72141656-C-T | c.2922C>T | p.I974= | Synonymous | 21/27 | - | 1 |
16-72141659-T-C | c.2925T>C | p.V975= | Synonymous | 21/27 | - | 1 |
16-72141660-T-A | c.2926T>A | p.S976T | Missense | 21/27 | - | 1 |
16-72141660-T-C | c.2926T>C | p.S976P | Missense | 21/27 | - | 1 |
16-72141661-C-T | c.2927C>T | p.S976F | Missense | 21/27 | - | 2 |
16-72141670-C-T | c.2936C>T | p.S979L | Missense | 21/27 | - | 2 |
16-72141671-G-T | c.2937G>T | p.S979= | Synonymous | 21/27 | - | 1 |
16-72141673-T-C | c.2939T>C | p.V980A | Missense | 21/27 | - | 1 |
16-72141674-C-T | c.2940C>T | p.V980= | Synonymous | 21/27 | - | 1 |
16-72141675-C-T | c.2941C>T | p.P981S | Missense | 21/27 | - | 2 |
16-72141678-G-A | c.2944G>A | p.A982T | Missense | 21/27 | - | 1 |
16-72141681-A-G | c.2947A>G | p.I983V | Missense | 21/27 | - | 1 |
16-72141684-T-A | c.2950T>A | p.F984I | Missense | 21/27 | - | 1 |
16-72141692-G-C | c.2958G>C | p.R986S | Missense | 21/27 | - | 1 |
16-72141692-G-T | c.2958G>T | p.R986S | Missense | 21/27 | - | 1 |
16-72141693-C-T | c.2959C>T | p.P987S | Missense | 21/27 | - | 1 |
16-72141854-G-A | c.2964+156G>A | - | IntronicSNV | - | 21/26 | 1 |
16-72142038-G-T | c.2965-88G>T | - | IntronicSNV | - | 21/26 | 3 |
16-72142072-C-T | c.2965-54C>T | - | IntronicSNV | - | 21/26 | 3 |
16-72142130-G-A | c.2969G>A | p.R990Q | Missense | 22/27 | - | 1 |
16-72142134-G-A | c.2973G>A | p.E991= | Synonymous | 22/27 | - | 2 |
16-72142138-G-A | c.2977G>A | p.E993K | Missense | 22/27 | - | 1 |
16-72142147-C-T | c.2986C>T | p.Q996* | Nonsense | 22/27 | - | 1 |
16-72142148-A-C | c.2987A>C | p.Q996P | Missense | 22/27 | - | 1 |
16-72142152-C-A | c.2991C>A | p.I997= | Synonymous | 22/27 | - | 1 |
16-72142153-CGG-TGT | c.2992_2994delinsTGT | p.R998C | Missense | 22/27 | - | 1 |
16-72142153-C-T | c.2992C>T | p.R998W | Missense | 22/27 | - | 3 |
16-72142155-G-GT | c.2994_2995insT | p.E999* | Nonsense | 22/27 | - | 1 |
16-72142159-A-T | c.2998A>T | p.K1000* | Nonsense | 22/27 | - | 2 |
16-72142164-C-T | c.3003C>T | p.F1001= | Synonymous | 22/27 | - | 1 |
16-72142165-G-A | c.3004G>A | p.A1002T | Missense | 22/27 | - | 1 |
16-72142171-C-T | c.3010C>T | p.P1004S | Missense | 22/27 | - | 2 |
16-72142176-G-C | c.3015G>C | p.E1005D | Missense | 22/27 | - | 1 |
16-72142176-G-T | c.3015G>T | p.E1005D | Missense | 22/27 | - | 1 |
16-72142179-C-T | c.3018C>T | p.S1006= | Synonymous | 22/27 | - | 2 |
16-72142189-A-T | c.3028A>T | p.T1010S | Missense | 22/27 | - | 1 |
16-72142199-A-T | c.3038A>T | p.N1013I | Missense | 22/27 | - | 1 |
16-72142204-T-C | c.3043T>C | p.Y1015H | Missense | 22/27 | - | 1 |
16-72142213-T-C | c.3052T>C | p.W1018R | Missense | 22/27 | - | 2 |
16-72142215-G-A | c.3054G>A | p.W1018* | Nonsense | 22/27 | - | 1 |
16-72142218-G-C | c.3057G>C | p.K1019N | Missense | 22/27 | - | 1 |
16-72142218-G-T | c.3057G>T | p.K1019N | Missense | 22/27 | - | 2 |
16-72142229-A-T | c.3068A>T | p.Y1023F | Missense | 22/27 | - | 1 |
16-72142233-C-A | c.3072C>A | p.S1024= | Synonymous | 22/27 | - | 2 |
16-72142233-C-G | c.3072C>G | p.S1024= | Synonymous | 22/27 | - | 1 |
16-72142233-C-T | c.3072C>T | p.S1024= | Synonymous | 22/27 | - | 5 |
16-72142244-G-T | c.3083G>T | p.C1028F | Missense | 22/27 | - | 1 |
16-72142249-G-A | c.3088G>A | p.D1030N | Missense | 22/27 | - | 1 |
16-72142252-C-T | c.3091C>T | p.H1031Y | Missense | 22/27 | - | 3 |
16-72142258-A-T | c.3097A>T | p.I1033F | Missense | 22/27 | - | 1 |
16-72142259-T-C | c.3098T>C | p.I1033T | Missense | 22/27 | - | 1 |
16-72142261-C-T | c.3100C>T | p.H1034Y | Missense | 22/27 | - | 2 |
16-72142276-C-T | c.3115C>T | p.R1039W | Missense | 22/27 | - | 4 |
16-72142278-G-A | c.3117G>A | p.R1039= | Synonymous | 22/27 | - | 1 |
16-72142376-G-A | c.3125G>A | p.R1042Q | Missense | 23/27 | - | 1 |
16-72142376-G-T | c.3125G>T | p.R1042L | Missense | 23/27 | - | 2 |
16-72142384-C-G | c.3133C>G | p.R1045G | Missense | 23/27 | - | 1 |
16-72142391-A-C | c.3140A>C | p.Q1047P | Missense | 23/27 | - | 1 |
16-72142417-C-A | c.3166C>A | p.R1056= | Synonymous | 23/27 | - | 1 |
16-72142419-G-A | c.3168G>A | p.R1056= | Synonymous | 23/27 | - | 1 |
16-72142419-G-C | c.3168G>C | p.R1056= | Synonymous | 23/27 | - | 1 |
16-72142419-G-T | c.3168G>T | p.R1056= | Synonymous | 23/27 | - | 1 |
16-72142424-G-A | c.3173G>A | p.S1058N | Missense | 23/27 | - | 1 |
16-72142429-G-A | c.3178G>A | p.A1060T | Missense | 23/27 | - | 1 |
16-72142431-C-T | c.3180C>T | p.A1060= | Synonymous | 23/27 | - | 1 |
16-72142433-C-T | c.3182C>T | p.S1061L | Missense | 23/27 | - | 2 |
16-72142436-G-A | c.3185G>A | p.C1062Y | Missense | 23/27 | - | 1 |
16-72142443-T-C | c.3192T>C | p.T1064= | Synonymous | 23/27 | - | 1 |
16-72142455-C-T | c.3204C>T | p.I1068= | Synonymous | 23/27 | - | 2 |
16-72142461-G-A | c.3210G>A | p.R1070= | Synonymous | 23/27 | - | 1 |
16-72142467-C-T | c.3216C>T | p.C1072= | Synonymous | 23/27 | - | 1 |
16-72142473-T-C | c.3222T>C | p.C1074= | Synonymous | 23/27 | - | 1 |
16-72142481-A-G | c.3230A>G | p.Y1077C | Missense | 23/27 | - | 1 |
16-72142485-C-T | c.3234C>T | p.F1078= | Synonymous | 23/27 | - | 1 |
16-72142486-C-A | c.3235C>A | p.H1079N | Missense | 23/27 | - | 2 |
16-72142492-G-A | c.3241G>A | p.A1081T | Missense | 23/27 | - | 1 |
16-72142504-A-C | c.3253A>C | p.K1085Q | Missense | 23/27 | - | 1 |
16-72142511-A-G | c.3255+5A>G | - | IntronicSNV | - | 23/26 | 1 |
16-72142595-C-A | c.3255+89C>A | - | IntronicSNV | - | 23/26 | 4 |
16-72142705-G-A | c.3262G>A | p.G1088R | Missense | 24/27 | - | 1 |
16-72142723-C-T | c.3280C>T | p.R1094C | Missense | 24/27 | - | 4 |
16-72142724-G-T | c.3281G>T | p.R1094L | Missense | 24/27 | - | 3 |
16-72142725-C-T | c.3282C>T | p.R1094= | Synonymous | 24/27 | - | 2 |
16-72142729-G-T | c.3286G>T | p.G1096W | Missense | 24/27 | - | 1 |
16-72142731-G-T | c.3288G>T | p.G1096= | Synonymous | 24/27 | - | 1 |
16-72142735-C-T | c.3292C>T | p.P1098S | Missense | 24/27 | - | 3 |
16-72142741-C-T | c.3298C>T | p.H1100Y | Missense | 24/27 | - | 3 |
16-72142753-A-T | c.3310A>T | p.T1104S | Missense | 24/27 | - | 1 |
16-72142754-C-G | c.3311C>G | p.T1104S | Missense | 24/27 | - | 1 |
16-72142760-C-T | c.3317C>T | p.S1106F | Missense | 24/27 | - | 1 |
16-72142761-C-T | c.3318C>T | p.S1106= | Synonymous | 24/27 | - | 2 |
16-72142768-G-A | c.3325G>A | p.G1109R | Missense | 24/27 | - | 4 |
16-72142779-C-T | c.3336C>T | p.Y1112= | Synonymous | 24/27 | - | 1 |
16-72142783-C-A | c.3340C>A | p.P1114T | Missense | 24/27 | - | 1 |
16-72142791-C-T | c.3348C>T | p.Y1116= | Synonymous | 24/27 | - | 1 |
16-72142801-C-T | c.3358C>T | p.H1120Y | Missense | 24/27 | - | 1 |
16-72142806-G-A | c.3363G>A | p.E1121= | Synonymous | 24/27 | - | 1 |
16-72142807-T-G | c.3364T>G | p.L1122V | Missense | 24/27 | - | 1 |
16-72142811-T-A | c.3368T>A | p.V1123D | Missense | 24/27 | - | 1 |
16-72142820-C-A | c.3377C>A | p.T1126N | Missense | 24/27 | - | 1 |
16-72142822-A-C | c.3379A>C | p.K1127Q | Missense | 24/27 | - | 1 |
16-72142895-G-A | c.3381+71G>A | - | IntronicSNV | - | 24/26 | 3 |
16-72142895-G-C | c.3381+71G>C | - | IntronicSNV | - | 24/26 | 5 |
16-72143327-G-A | c.3395G>A | p.C1132Y | Missense | 25/27 | - | 1 |
16-72143329-G-A | c.3397G>A | p.V1133M | Missense | 25/27 | - | 1 |
16-72143330-T-A | c.3398T>A | p.V1133E | Missense | 25/27 | - | 1 |
16-72143333-C-T | c.3401C>T | p.T1134I | Missense | 25/27 | - | 1 |
16-72143341-G-T | c.3409G>T | p.D1137Y | Missense | 25/27 | - | 1 |
16-72143343-C-T | c.3411C>T | p.D1137= | Synonymous | 25/27 | - | 1 |
16-72143348-A-G | c.3416A>G | p.E1139G | Missense | 25/27 | - | 1 |
16-72143357-C-G | c.3425C>G | p.A1142G | Missense | 25/27 | - | 6 |
16-72143357-C-T | c.3425C>T | p.A1142V | Missense | 25/27 | - | 1 |
16-72143359-G-A | c.3427G>A | p.E1143K | Missense | 25/27 | - | 1 |
16-72143360-A-G | c.3428A>G | p.E1143G | Missense | 25/27 | - | 1 |
16-72143368-C-A | c.3436C>A | p.P1146T | Missense | 25/27 | - | 1 |
16-72143370-C-A | c.3438C>A | p.P1146= | Synonymous | 25/27 | - | 1 |
16-72143370-C-G | c.3438C>G | p.P1146= | Synonymous | 25/27 | - | 1 |
16-72143370-C-T | c.3438C>T | p.P1146= | Synonymous | 25/27 | - | 1 |
16-72143374-T-C | c.3442T>C | p.F1148L | Missense | 25/27 | - | 1 |
16-72143376-C-A | c.3444C>A | p.F1148L | Missense | 25/27 | - | 1 |
16-72143376-C-G | c.3444C>G | p.F1148L | Missense | 25/27 | - | 1 |
16-72143380-A-C | c.3448A>C | p.S1150R | Missense | 25/27 | - | 1 |
16-72143382-C-A | c.3450C>A | p.S1150R | Missense | 25/27 | - | 1 |
16-72143382-C-G | c.3450C>G | p.S1150R | Missense | 25/27 | - | 1 |
16-72143383-GTG-ATC | c.3451_3453delinsATC | p.V1151I | Missense | 25/27 | - | 1 |
16-72143387-A-T | c.3455A>T | p.K1152I | Missense | 25/27 | - | 1 |
16-72143397-C-A | c.3465C>A | p.G1155= | Synonymous | 25/27 | - | 1 |
16-72143397-C-G | c.3465C>G | p.G1155= | Synonymous | 25/27 | - | 1 |
16-72143397-C-T | c.3465C>T | p.G1155= | Synonymous | 25/27 | - | 1 |
16-72143400-G-A | c.3468G>A | p.K1156= | Synonymous | 25/27 | - | 2 |
16-72143404-C-T | c.3472C>T | p.R1158W | Missense | 25/27 | - | 1 |
16-72143405-G-A | c.3473G>A | p.R1158Q | Missense | 25/27 | - | 2 |
16-72143406-G-C | c.3474G>C | p.R1158= | Synonymous | 25/27 | - | 5 |
16-72143406-G-T | c.3474G>T | p.R1158= | Synonymous | 25/27 | - | 5 |
16-72143408-A-G | c.3476A>G | p.Q1159R | Missense | 25/27 | - | 1 |
16-72143410-G-T | c.3477+1G>T | - | IntronicSNV | - | 25/26 | 1 |
16-72143411-T-G | c.3477+2T>G | - | IntronicSNV | - | 25/26 | 4 |
16-72143414-G-A | c.3477+5G>A | - | IntronicSNV | - | 25/26 | 3 |
16-72143457-G-A | c.3477+48G>A | - | IntronicSNV | - | 25/26 | 1 |
16-72144174-T-C | c.3478-681T>C | - | IntronicSNV | - | 25/26 | 6 |
16-72144174-T-G | c.3478-681T>G | - | IntronicSNV | - | 25/26 | 6 |
16-72144860-C-A | c.3483C>A | p.N1161K | Missense | 26/27 | - | 1 |
16-72144862-G-A | c.3485G>A | p.R1162H | Missense | 26/27 | - | 1 |
16-72144865-G-A | c.3488G>A | p.R1163H | Missense | 26/27 | - | 2 |
16-72144867-C-T | c.3490C>T | p.R1164W | Missense | 26/27 | - | 2 |
16-72144868-G-A | c.3491G>A | p.R1164Q | Missense | 26/27 | - | 2 |
16-72144878-G-A | c.3501G>A | p.E1167= | Synonymous | 26/27 | - | 3 |
16-72144886-C-T | c.3509C>T | p.S1170F | Missense | 26/27 | - | 1 |
16-72144892-T-C | c.3515T>C | p.M1172T | Missense | 26/27 | - | 2 |
16-72144897-G-A | c.3520G>A | p.E1174K | Missense | 26/27 | - | 1 |
16-72144907-C-T | c.3530C>T | p.A1177V | Missense | 26/27 | - | 1 |
16-72144908-G-A | c.3531G>A | p.A1177= | Synonymous | 26/27 | - | 1 |
16-72144909-C-A | c.3532C>A | p.L1178M | Missense | 26/27 | - | 1 |
16-72144914-C-T | c.3537C>T | p.A1179= | Synonymous | 26/27 | - | 1 |
16-72144923-G-T | c.3546G>T | p.Q1182H | Missense | 26/27 | - | 1 |
16-72144927-C-T | c.3550C>T | p.R1184* | Nonsense | 26/27 | - | 2 |
16-72144928-G-A | c.3551G>A | p.R1184Q | Missense | 26/27 | - | 1 |
16-72144936-CGG-AGC | c.3559_3561delinsAGC | p.R1187S | Missense | 26/27 | - | 1 |
16-72144936-C-T | c.3559C>T | p.R1187W | Missense | 26/27 | - | 2 |
16-72144937-G-A | c.3560G>A | p.R1187Q | Missense | 26/27 | - | 2 |
16-72144944-G-A | c.3567G>A | p.E1189= | Synonymous | 26/27 | - | 1 |
16-72144946-A-G | c.3569A>G | p.Q1190R | Missense | 26/27 | - | 1 |
16-72144948-G-A | c.3571G>A | p.E1191K | Missense | 26/27 | - | 4 |
16-72144953-G-C | c.3576G>C | p.K1192N | Missense | 26/27 | - | 1 |
16-72144955-G-A | c.3578G>A | p.R1193H | Missense | 26/27 | - | 2 |
16-72144959-C-T | c.3582C>T | p.S1194= | Synonymous | 26/27 | - | 2 |
16-72144958-GC-G | c.3586del | p.L1196Wfs*21 | Frameshift | 26/27 | - | 1 |
16-72144965-G-A | c.3588G>A | p.L1196= | Synonymous | 26/27 | - | 1 |
16-72144965-G-C | c.3588G>C | p.L1196= | Synonymous | 26/27 | - | 1 |
16-72144968-C-A | c.3591C>A | p.G1197= | Synonymous | 26/27 | - | 1 |
16-72144969-A-T | c.3592A>T | p.S1198C | Missense | 26/27 | - | 1 |
16-72144976-G-A | c.3599G>A | p.R1200K | Missense | 26/27 | - | 1 |
16-72144976-G-T | c.3599G>T | p.R1200M | Missense | 26/27 | - | 1 |
16-72146312-G-A | c.3600G>A | p.R1200= | Synonymous | 27/27 | - | 1 |
16-72146317-C-G | c.3605C>G | p.T1202R | Missense | 27/27 | - | 1 |
16-72146317-CG-TC | c.3605_3606delinsTC | p.T1202I | Missense | 27/27 | - | 1 |
16-72146317-C-T | c.3605C>T | p.T1202M | Missense | 27/27 | - | 1 |
16-72146318-G-A | c.3606G>A | p.T1202= | Synonymous | 27/27 | - | 1 |
16-72146319-A-T | c.3607A>T | p.K1203* | Nonsense | 27/27 | - | 1 |
16-72146320-A-G | c.3608A>G | p.K1203R | Missense | 27/27 | - | 1 |
16-72146321-G-C | c.3609G>C | p.K1203N | Missense | 27/27 | - | 1 |
16-72146321-G-T | c.3609G>T | p.K1203N | Missense | 27/27 | - | 3 |
16-72146322-A-T | c.3610A>T | p.I1204F | Missense | 27/27 | - | 1 |
16-72146326-A-G | c.3614A>G | p.Y1205C | Missense | 27/27 | - | 1 |
16-72146329-C-T | c.3617C>T | p.T1206I | Missense | 27/27 | - | 1 |
16-72146331-C-A | c.3619C>A | p.P1207T | Missense | 27/27 | - | 2 |
16-72146332-C-A | c.3620C>A | p.P1207Q | Missense | 27/27 | - | 2 |
16-72146332-C-T | c.3620C>T | p.P1207L | Missense | 27/27 | - | 2 |
16-72146337-C-T | c.3625C>T | p.R1209W | Missense | 27/27 | - | 1 |
16-72146338-G-A | c.3626G>A | p.R1209Q | Missense | 27/27 | - | 3 |
16-72146338-G-T | c.3626G>T | p.R1209L | Missense | 27/27 | - | 1 |
16-72146341-A-T | c.3629A>T | p.K1210I | Missense | 27/27 | - | 1 |
16-72146346-C-T | c.3634C>T | p.Q1212* | Nonsense | 27/27 | - | 1 |
16-72146349-G-A | c.3637G>A | p.G1213R | Missense | 27/27 | - | 1 |
16-72146361-A-G | c.3649A>G | p.T1217A | Missense | 27/27 | - | 2 |
16-72146363-C-A | c.3651C>A | p.T1217= | Synonymous | 27/27 | - | 1 |
16-72146365-C-T | c.3653C>T | p.P1218L | Missense | 27/27 | - | 4 |
16-72146367-C-T | c.3655C>T | p.R1219C | Missense | 27/27 | - | 2 |
16-72146368-G-A | c.3656G>A | p.R1219H | Missense | 27/27 | - | 2 |
16-72146368-G-C | c.3656G>C | p.R1219P | Missense | 27/27 | - | 1 |
16-72146370-C-T | c.3658C>T | p.R1220C | Missense | 27/27 | - | 1 |
16-72146371-G-A | c.3659G>A | p.R1220H | Missense | 27/27 | - | 2 |
16-72146371-GC-AA | c.3659_3660delinsAA | p.R1220Q | Missense | 27/27 | - | 1 |
16-72146374-C-T | c.3662C>T | p.T1221M | Missense | 27/27 | - | 9 |
16-72146375-G-T | c.3663G>T | p.T1221= | Synonymous | 27/27 | - | 2 |
16-72146377-C-T | c.3665C>T | p.P1222L | Missense | 27/27 | - | 2 |
16-72146379-G-A | c.3667G>A | p.A1223T | Missense | 27/27 | - | 1 |
16-72146378-AGCCC-A | c.3669_3672del | p.R1224Lfs*26 | Frameshift | 27/27 | - | 1 |
16-72146381-C-T | c.3669C>T | p.A1223= | Synonymous | 27/27 | - | 1 |
16-72146383-G-A | c.3671G>A | p.R1224H | Missense | 27/27 | - | 2 |
16-72146383-G-T | c.3671G>T | p.R1224L | Missense | 27/27 | - | 1 |
16-72146389-G-T | c.3677G>T | p.G1226V | Missense | 27/27 | - | 1 |
16-72146392-T-A | c.3680T>A | p.L1227Q | Missense | 27/27 | - | 1 |
16-72146441-C-G | c.*45C>G | - | 3-UTRSNV | 27/27 | - | 9 |
16-72146570-T-C | c.*174T>C | - | 3-UTRSNV | 27/27 | - | 8 |
16-72146638-G-A | c.*242G>A | - | 3-UTRSNV | 27/27 | - | 1 |
16-72146642-T-C | c.*246T>C | - | 3-UTRSNV | 27/27 | - | 1 |
16-72146642-T-G | c.*246T>G | - | 3-UTRSNV | 27/27 | - | 1 |
16-72146666-C-A | c.*270C>A | - | 3-UTRSNV | 27/27 | - | 2 |
16-72146683-G-A | c.*287G>A | - | 3-UTRSNV | 27/27 | - | 1 |
16-72146689-G-A | c.*293G>A | - | 3-UTRSNV | 27/27 | - | 1 |