Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
16-2198796-G-GT | c.12_13insT | p.K5* | Nonsense | 1/9 | - | 1 |
16-2198799-G-C | c.15G>C | p.K5N | Missense | 1/9 | - | 1 |
16-2198799-G-T | c.15G>T | p.K5N | Missense | 1/9 | - | 1 |
16-2198818-GCC-CAA | c.34_36delinsCAA | p.A12Q | Missense | 1/9 | - | 1 |
16-2198821-AGC-GAG | c.37_39delinsGAG | p.S13E | Missense | 1/9 | - | 1 |
16-2198821-AG-GA | c.37_38delinsGA | p.S13D | Missense | 1/9 | - | 1 |
16-2198821-AG-GC | c.37_38delinsGC | p.S13A | Missense | 1/9 | - | 1 |
16-2198821-A-T | c.37A>T | p.S13C | Missense | 1/9 | - | 1 |
16-2198830-GCT-TAA | c.46_48delinsTAA | p.A16* | Nonsense | 1/9 | - | 1 |
16-2198833-GC-CA | c.49_50delinsCA | p.A17H | Missense | 1/9 | - | 1 |
16-2198866-C-T | c.82C>T | p.P28S | Missense | 1/9 | - | 1 |
16-2198869-GC-CT | c.85_86delinsCT | p.A29L | Missense | 1/9 | - | 1 |
16-2198870-CG-AC | c.86_87delinsAC | p.A29D | Missense | 1/9 | - | 1 |
16-2198897-C-T | c.113C>T | p.P38L | Missense | 1/9 | - | 1 |
16-2198914-G-A | c.130G>A | p.G44R | Missense | 1/9 | - | 2 |
16-2198914-GGG-AGC | c.130_132delinsAGC | p.G44S | Missense | 1/9 | - | 1 |
16-2198927-C-T | c.143C>T | p.P48L | Missense | 1/9 | - | 1 |
16-2198933-G-A | c.149G>A | p.R50Q | Missense | 1/9 | - | 1 |
16-2198935-C-T | c.151C>T | p.P51S | Missense | 1/9 | - | 1 |
16-2198948-G-T | c.164G>T | p.G55V | Missense | 1/9 | - | 1 |
16-2198957-A-G | c.173A>G | p.D58G | Missense | 1/9 | - | 1 |
16-2199788-T-G | c.196-154T>G | - | IntronicSNV | - | 1/8 | 3 |
16-2199949-T-C | c.203T>C | p.L68P | Missense | 2/9 | - | 1 |
16-2199955-G-A | c.209G>A | p.G70E | Missense | 2/9 | - | 1 |
16-2199962-G-C | c.216G>C | p.S72= | Synonymous | 2/9 | - | 3 |
16-2199967-T-G | c.221T>G | p.V74G | Missense | 2/9 | - | 1 |
16-2199976-C-A | c.230C>A | p.T77N | Missense | 2/9 | - | 3 |
16-2199977-C-G | c.231C>G | p.T77= | Synonymous | 2/9 | - | 1 |
16-2199981-C-T | c.235C>T | p.L79= | Synonymous | 2/9 | - | 1 |
16-2199984-C-T | c.238C>T | p.L80= | Synonymous | 2/9 | - | 1 |
16-2199986-G-A | c.240G>A | p.L80= | Synonymous | 2/9 | - | 1 |
16-2199986-G-C | c.240G>C | p.L80= | Synonymous | 2/9 | - | 1 |
16-2199986-G-T | c.240G>T | p.L80= | Synonymous | 2/9 | - | 1 |
16-2199987-G-A | c.241G>A | p.V81M | Missense | 2/9 | - | 1 |
16-2199990-C-T | c.244C>T | p.R82* | Nonsense | 2/9 | - | 1 |
16-2199992-A-G | c.246A>G | p.R82= | Synonymous | 2/9 | - | 1 |
16-2199999-G-A | c.253G>A | p.D85N | Missense | 2/9 | - | 1 |
16-2200008-T-C | c.262T>C | p.F88L | Missense | 2/9 | - | 3 |
16-2200015-C-T | c.269C>T | p.A90V | Missense | 2/9 | - | 3 |
16-2200034-C-G | c.288C>G | p.T96= | Synonymous | 2/9 | - | 1 |
16-2200035-G-A | c.289G>A | p.V97I | Missense | 2/9 | - | 2 |
16-2200042-T-A | c.296T>A | p.I99N | Missense | 2/9 | - | 3 |
16-2200049-C-T | c.303C>T | p.F101= | Synonymous | 2/9 | - | 1 |
16-2200053-G-A | c.306+1G>A | - | IntronicSNV | - | 2/8 | 1 |
16-2200184-C-T | c.306+132C>T | - | IntronicSNV | - | 2/8 | 2 |
16-2201270-G-A | c.307-300G>A | - | IntronicSNV | - | 2/8 | 4 |
16-2201270-G-C | c.307-300G>C | - | IntronicSNV | - | 2/8 | 4 |
16-2201270-G-T | c.307-300G>T | - | IntronicSNV | - | 2/8 | 4 |
16-2201572-C-A | c.309C>A | p.N103K | Missense | 3/9 | - | 1 |
16-2201572-C-G | c.309C>G | p.N103K | Missense | 3/9 | - | 1 |
16-2201574-A-C | c.311A>C | p.K104T | Missense | 3/9 | - | 1 |
16-2201579-C-T | c.316C>T | p.L106= | Synonymous | 3/9 | - | 5 |
16-2201582-G-A | c.319G>A | p.D107N | Missense | 3/9 | - | 1 |
16-2201584-C-T | c.321C>T | p.D107= | Synonymous | 3/9 | - | 1 |
16-2201585-G-A | c.322G>A | p.V108M | Missense | 3/9 | - | 1 |
16-2201591-G-A | c.328G>A | p.G110S | Missense | 3/9 | - | 1 |
16-2201593-T-A | c.330T>A | p.G110= | Synonymous | 3/9 | - | 1 |
16-2201593-T-C | c.330T>C | p.G110= | Synonymous | 3/9 | - | 1 |
16-2201593-T-G | c.330T>G | p.G110= | Synonymous | 3/9 | - | 1 |
16-2201600-G-T | c.337G>T | p.V113L | Missense | 3/9 | - | 1 |
16-2201607-T-C | c.344T>C | p.L115P | Missense | 3/9 | - | 1 |
16-2201609-C-T | c.346C>T | p.Q116* | Nonsense | 3/9 | - | 1 |
16-2201611-G-A | c.348G>A | p.Q116= | Synonymous | 3/9 | - | 1 |
16-2201700-G-A | c.353G>A | p.W118* | Nonsense | 4/9 | - | 1 |
16-2201701-G-A | c.354G>A | p.W118* | Nonsense | 4/9 | - | 1 |
16-2201702-G-A | c.355G>A | p.D119N | Missense | 4/9 | - | 2 |
16-2201706-C-G | c.359C>G | p.T120R | Missense | 4/9 | - | 1 |
16-2201706-C-T | c.359C>T | p.T120I | Missense | 4/9 | - | 1 |
16-2201715-A-G | c.368A>G | p.Q123R | Missense | 4/9 | - | 2 |
16-2201715-A-T | c.368A>T | p.Q123L | Missense | 4/9 | - | 3 |
16-2201721-G-A | c.374G>A | p.R125Q | Missense | 4/9 | - | 1 |
16-2201722-G-A | c.375G>A | p.R125= | Synonymous | 4/9 | - | 1 |
16-2201723-T-C | c.376T>C | p.F126L | Missense | 4/9 | - | 1 |
16-2201726-C-T | c.379C>T | p.R127C | Missense | 4/9 | - | 1 |
16-2201727-G-A | c.380G>A | p.R127H | Missense | 4/9 | - | 3 |
16-2201730-G-A | c.383G>A | p.S128N | Missense | 4/9 | - | 1 |
16-2201734-T-A | c.387T>A | p.V129= | Synonymous | 4/9 | - | 1 |
16-2201734-T-C | c.387T>C | p.V129= | Synonymous | 4/9 | - | 1 |
16-2201734-T-G | c.387T>G | p.V129= | Synonymous | 4/9 | - | 1 |
16-2201738-C-T | c.391C>T | p.H131Y | Missense | 4/9 | - | 1 |
16-2201747-T-C | c.400T>C | p.Y134H | Missense | 4/9 | - | 1 |
16-2201750-C-T | c.403C>T | p.R135W | Missense | 4/9 | - | 3 |
16-2201751-G-T | c.404G>T | p.R135L | Missense | 4/9 | - | 2 |
16-2201761-T-C | c.414T>C | p.H138= | Synonymous | 4/9 | - | 1 |
16-2201859-C-G | c.418C>G | p.L140V | Missense | 5/9 | - | 2 |
16-2201870-C-A | c.429C>A | p.L143= | Synonymous | 5/9 | - | 1 |
16-2201870-C-G | c.429C>G | p.L143= | Synonymous | 5/9 | - | 2 |
16-2201870-C-T | c.429C>T | p.L143= | Synonymous | 5/9 | - | 1 |
16-2201874-G-A | c.433G>A | p.D145N | Missense | 5/9 | - | 3 |
16-2201881-C-A | c.440C>A | p.T147N | Missense | 5/9 | - | 1 |
16-2201887-A-G | c.446A>G | p.K149R | Missense | 5/9 | - | 1 |
16-2201891-C-A | c.450C>A | p.A150= | Synonymous | 5/9 | - | 2 |
16-2201891-C-G | c.450C>G | p.A150= | Synonymous | 5/9 | - | 2 |
16-2201891-C-T | c.450C>T | p.A150= | Synonymous | 5/9 | - | 2 |
16-2201892-T-C | c.451T>C | p.S151P | Missense | 5/9 | - | 1 |
16-2201893-C-G | c.452C>G | p.S151C | Missense | 5/9 | - | 2 |
16-2201913-A-G | c.468+4A>G | - | IntronicSNV | - | 5/8 | 1 |
16-2202046-G-A | c.468+137G>A | - | IntronicSNV | - | 5/8 | 1 |
16-2202822-CC-AG | c.470_471delinsAG | p.A157E | Missense | 6/9 | - | 1 |
16-2202833-G-A | c.481G>A | p.E161K | Missense | 6/9 | - | 3 |
16-2202837-T-C | c.485T>C | p.I162T | Missense | 6/9 | - | 1 |
16-2202838-C-G | c.486C>G | p.I162M | Missense | 6/9 | - | 1 |
16-2202841-C-A | c.489C>A | p.H163Q | Missense | 6/9 | - | 3 |
16-2202841-C-G | c.489C>G | p.H163Q | Missense | 6/9 | - | 2 |
16-2202847-C-T | c.495C>T | p.Y165= | Synonymous | 6/9 | - | 1 |
16-2202849-C-T | c.497C>T | p.A166V | Missense | 6/9 | - | 1 |
16-2202854-C-T | c.502C>T | p.H168Y | Missense | 6/9 | - | 3 |
16-2202857-G-A | c.505G>A | p.D169N | Missense | 6/9 | - | 2 |
16-2202860-G-A | c.508G>A | p.V170M | Missense | 6/9 | - | 1 |
16-2202871-G-T | c.519G>T | p.M173I | Missense | 6/9 | - | 1 |
16-2202878-G-A | c.526G>A | p.G176R | Missense | 6/9 | - | 1 |
16-2202878-G-C | c.526G>C | p.G176R | Missense | 6/9 | - | 1 |
16-2202882-A-T | c.530A>T | p.N177I | Missense | 6/9 | - | 2 |
16-2202904-C-G | c.534+18C>G | - | IntronicSNV | - | 6/8 | 1 |
16-2202993-G-A | c.538G>A | p.D180N | Missense | 7/9 | - | 1 |
16-2202995-C-T | c.540C>T | p.D180= | Synonymous | 7/9 | - | 1 |
16-2202997-C-G | c.542C>G | p.S181C | Missense | 7/9 | - | 1 |
16-2203008-C-T | c.553C>T | p.R185C | Missense | 7/9 | - | 1 |
16-2203012-T-A | c.557T>A | p.V186E | Missense | 7/9 | - | 3 |
16-2203010-TGTG-T | c.559_561del | p.V187del | InFrameDeletion | 7/9 | - | 1 |
16-2203016-G-A | c.561G>A | p.V187= | Synonymous | 7/9 | - | 1 |
16-2203016-G-C | c.561G>C | p.V187= | Synonymous | 7/9 | - | 1 |
16-2203016-G-T | c.561G>T | p.V187= | Synonymous | 7/9 | - | 1 |
16-2203020-AGG-TGT | c.565_567delinsTGT | p.R189C | Missense | 7/9 | - | 1 |
16-2203018-AGAGG-A | c.568_571del | p.E190Tfs*31 | Frameshift | 7/9 | - | 1 |
16-2203025-G-A | c.570G>A | p.E190= | Synonymous | 7/9 | - | 1 |
16-2203025-G-GT | c.570_571insT | p.D191* | Nonsense | 7/9 | - | 1 |
16-2203032-G-A | c.577G>A | p.E193K | Missense | 7/9 | - | 1 |
16-2203038-C-G | c.583C>G | p.L195V | Missense | 7/9 | - | 1 |
16-2203041-G-T | c.586G>T | p.A196S | Missense | 7/9 | - | 3 |
16-2203044-A-C | c.589A>C | p.K197Q | Missense | 7/9 | - | 1 |
16-2203120-C-T | c.592-27C>T | - | IntronicSNV | - | 7/8 | 3 |
16-2203148-A-T | c.593A>T | p.E198V | Missense | 8/9 | - | 1 |
16-2203150-T-C | c.595T>C | p.Y199H | Missense | 8/9 | - | 1 |
16-2203158-G-A | c.603G>A | p.L201= | Synonymous | 8/9 | - | 1 |
16-2203160-C-T | c.605C>T | p.P202L | Missense | 8/9 | - | 1 |
16-2203177-G-A | c.622G>A | p.A208T | Missense | 8/9 | - | 1 |
16-2203180-A-C | c.625A>C | p.K209Q | Missense | 8/9 | - | 1 |
16-2203182-G-C | c.627G>C | p.K209N | Missense | 8/9 | - | 1 |
16-2203182-G-T | c.627G>T | p.K209N | Missense | 8/9 | - | 1 |
16-2203194-C-A | c.639C>A | p.N213K | Missense | 8/9 | - | 2 |
16-2203194-C-G | c.639C>G | p.N213K | Missense | 8/9 | - | 2 |
16-2203196-T-G | c.641T>G | p.V214G | Missense | 8/9 | - | 2 |
16-2203197-G-A | c.642G>A | p.V214= | Synonymous | 8/9 | - | 1 |
16-2203197-G-C | c.642G>C | p.V214= | Synonymous | 8/9 | - | 1 |
16-2203197-G-T | c.642G>T | p.V214= | Synonymous | 8/9 | - | 1 |
16-2203204-G-T | c.649G>T | p.A217S | Missense | 8/9 | - | 1 |
16-2203207-T-C | c.652T>C | p.F218L | Missense | 8/9 | - | 1 |
16-2203209-C-A | c.654C>A | p.F218L | Missense | 8/9 | - | 1 |
16-2203209-C-G | c.654C>G | p.F218L | Missense | 8/9 | - | 1 |
16-2203211-C-A | c.656C>A | p.T219K | Missense | 8/9 | - | 4 |
16-2203219-G-T | c.664G>T | p.A222S | Missense | 8/9 | - | 1 |
16-2203224-G-GT | c.668+2dup | - | IntronicInsertion | - | 8/8 | 1 |
16-2203327-AAGCAGCGCTCCATGAAGGCTCCCAGCG-A | c.680_706del | p.Q227_E235del | InFrameDeletion | 9/9 | - | 1 |
16-2203333-C-T | c.682C>T | p.R228C | Missense | 9/9 | - | 1 |
16-2203334-G-A | c.683G>A | p.R228H | Missense | 9/9 | - | 1 |
16-2203336-T-A | c.685T>A | p.S229T | Missense | 9/9 | - | 1 |
16-2203351-A-G | c.700A>G | p.S234G | Missense | 9/9 | - | 1 |
16-2203354-G-A | c.703G>A | p.E235K | Missense | 9/9 | - | 1 |
16-2203354-G-T | c.703G>T | p.E235* | Nonsense | 9/9 | - | 3 |
16-2203358-C-A | c.707C>A | p.P236Q | Missense | 9/9 | - | 1 |
16-2203358-C-G | c.707C>G | p.P236R | Missense | 9/9 | - | 1 |
16-2203358-C-T | c.707C>T | p.P236L | Missense | 9/9 | - | 1 |
16-2203359-G-A | c.708G>A | p.P236= | Synonymous | 9/9 | - | 1 |
16-2203359-G-C | c.708G>C | p.P236= | Synonymous | 9/9 | - | 1 |
16-2203360-C-T | c.709C>T | p.R237C | Missense | 9/9 | - | 3 |
16-2203361-G-A | c.710G>A | p.R237H | Missense | 9/9 | - | 1 |
16-2203367-G-A | c.716G>A | p.R239Q | Missense | 9/9 | - | 2 |
16-2203367-G-T | c.716G>T | p.R239L | Missense | 9/9 | - | 1 |
16-2203369-C-T | c.718C>T | p.L240= | Synonymous | 9/9 | - | 1 |
16-2203374-T-C | c.723T>C | p.H241= | Synonymous | 9/9 | - | 2 |
16-2203374-T-TCCCATGCCTACTACCGG | c.723_724insCCCATGCCTACTACCGG | p.D242Pfs*25 | Frameshift | 9/9 | - | 1 |
16-2203380-C-A | c.729C>A | p.Y243* | Nonsense | 9/9 | - | 1 |
16-2203380-C-G | c.729C>G | p.Y243* | Nonsense | 9/9 | - | 2 |
16-2203380-C-T | c.729C>T | p.Y243= | Synonymous | 9/9 | - | 1 |
16-2203381-G-A | c.730G>A | p.V244I | Missense | 9/9 | - | 2 |
16-2203381-G-C | c.730G>C | p.V244L | Missense | 9/9 | - | 1 |
16-2203381-G-T | c.730G>T | p.V244F | Missense | 9/9 | - | 1 |
16-2203382-T-A | c.731T>A | p.V244D | Missense | 9/9 | - | 2 |
16-2203384-TAA-T | c.733_734del | p.K245Efs*182 | Frameshift | 9/9 | - | 1 |
16-2203392-G-A | c.741G>A | p.E247= | Synonymous | 9/9 | - | 2 |
16-2203396-C-G | c.745C>G | p.R249G | Missense | 9/9 | - | 4 |
16-2203397-G-A | c.746G>A | p.R249Q | Missense | 9/9 | - | 1 |
16-2203399-G-T | c.748G>T | p.G250W | Missense | 9/9 | - | 1 |
16-2203402-G-C | c.751G>C | p.A251P | Missense | 9/9 | - | 1 |
16-2203403-C-T | c.752C>T | p.A251V | Missense | 9/9 | - | 2 |
16-2203406-C-T | c.755C>T | p.S252F | Missense | 9/9 | - | 1 |
16-2203410-C-G | c.759C>G | p.C253W | Missense | 9/9 | - | 2 |
16-2203412-G-T | c.761G>T | p.C254F | Missense | 9/9 | - | 3 |
16-2203413-C-A | c.762C>A | p.C254* | Nonsense | 9/9 | - | 1 |
16-2203418-C-A | c.767C>A | p.P256H | Missense | 9/9 | - | 2 |
16-2203421-G-A | c.770G>A | p.*257= | Synonymous | 9/9 | - | 1 |
16-2203456-T-A | c.*34T>A | - | 3-UTRSNV | 9/9 | - | 13 |
16-2203456-T-C | c.*34T>C | - | 3-UTRSNV | 9/9 | - | 13 |
16-2203611-C-T | c.*189C>T | - | 3-UTRSNV | 9/9 | - | 2 |
16-2203850-A-C | c.*428A>C | - | 3-UTRSNV | 9/9 | - | 1 |
16-2203850-A-G | c.*428A>G | - | 3-UTRSNV | 9/9 | - | 1 |
16-2203850-A-T | c.*428A>T | - | 3-UTRSNV | 9/9 | - | 1 |
16-2203886-T-A | c.*464T>A | - | 3-UTRSNV | 9/9 | - | 1 |
16-2203893-G-A | c.*471G>A | - | 3-UTRSNV | 9/9 | - | 1 |
16-2203928-A-G | c.*506A>G | - | 3-UTRSNV | 9/9 | - | 1 |