Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
2-264948-C-G | c.-17C>G | - | 5-UTRSNV | 1/6 | - | 2 |
2-264948-C-T | c.-17C>T | - | 5-UTRSNV | 1/6 | - | 2 |
2-264973-A-C | c.9A>C | p.E3D | Missense | 1/6 | - | 1 |
2-264973-A-T | c.9A>T | p.E3D | Missense | 1/6 | - | 1 |
2-264975-A-T | c.11A>T | p.Q4L | Missense | 1/6 | - | 1 |
2-264980-A-G | c.16A>G | p.T6A | Missense | 1/6 | - | 1 |
2-264980-A-T | c.16A>T | p.T6S | Missense | 1/6 | - | 1 |
2-264982-C-A | c.18C>A | p.T6= | Synonymous | 1/6 | - | 2 |
2-264982-C-CT | c.18_19insT | p.K7* | Nonsense | 1/6 | - | 1 |
2-264982-C-G | c.18C>G | p.T6= | Synonymous | 1/6 | - | 3 |
2-264982-C-T | c.18C>T | p.T6= | Synonymous | 1/6 | - | 2 |
2-264983-A-G | c.19A>G | p.K7E | Missense | 1/6 | - | 1 |
2-264985-G-A | c.21G>A | p.K7= | Synonymous | 1/6 | - | 3 |
2-264985-G-C | c.21G>C | p.K7N | Missense | 1/6 | - | 3 |
2-264985-G-T | c.21G>T | p.K7N | Missense | 1/6 | - | 3 |
2-264986-T-G | c.22T>G | p.S8A | Missense | 1/6 | - | 1 |
2-264987-C-A | c.23C>A | p.S8Y | Missense | 1/6 | - | 3 |
2-264995-TT-CG | c.31_32delinsCG | p.F11R | Missense | 1/6 | - | 5 |
2-264998-G-A | c.34G>A | p.V12M | Missense | 1/6 | - | 1 |
2-265001-TG-GC | c.37_38delinsGC | p.C13A | Missense | 1/6 | - | 1 |
2-265004-C-G | c.40C>G | p.L14V | Missense | 1/6 | - | 2 |
2-265109-A-G | c.43+102A>G | - | IntronicSNV | - | 1/5 | 1 |
2-265789-TC-T | c.43+782del | - | IntronicDeletion | - | 1/5 | 1 |
2-265970-C-G | c.43+963C>G | - | IntronicSNV | - | 1/5 | 2 |
2-266895-C-T | c.43+1888C>T | - | IntronicSNV | - | 1/5 | 1 |
2-266907-C-G | c.43+1900C>G | - | IntronicSNV | - | 1/5 | 1 |
2-266907-C-T | c.43+1900C>T | - | IntronicSNV | - | 1/5 | 1 |
2-267367-G-T | c.43+2360G>T | - | IntronicSNV | - | 1/5 | 1 |
2-268191-G-T | c.43+3184G>T | - | IntronicSNV | - | 1/5 | 2 |
2-268293-A-G | c.43+3286A>G | - | IntronicSNV | - | 1/5 | 1 |
2-268871-G-A | c.44-2995G>A | - | IntronicSNV | - | 1/5 | 1 |
2-269352-G-A | c.44-2514G>A | - | IntronicSNV | - | 1/5 | 5 |
2-269679-C-T | c.44-2187C>T | - | IntronicSNV | - | 1/5 | 1 |
2-271797-G-A | c.44-69G>A | - | IntronicSNV | - | 1/5 | 5 |
2-271867-T-G | c.45T>G | p.G15= | Synonymous | 2/6 | - | 1 |
2-271874-TG-GA | c.52_53delinsGA | p.C18D | Missense | 2/6 | - | 1 |
2-271875-G-T | c.53G>T | p.C18F | Missense | 2/6 | - | 1 |
2-271876-T-C | c.54T>C | p.C18= | Synonymous | 2/6 | - | 1 |
2-271876-T-G | c.54T>G | p.C18W | Missense | 2/6 | - | 1 |
2-271877-C-A | c.55C>A | p.R19= | Synonymous | 2/6 | - | 1 |
2-271877-CGA-TGG | c.55_57delinsTGG | p.R19W | Missense | 2/6 | - | 1 |
2-271877-C-T | c.55C>T | p.R19* | Nonsense | 2/6 | - | 1 |
2-271878-G-A | c.56G>A | p.R19Q | Missense | 2/6 | - | 3 |
2-271880-TCA-GAC | c.58_60delinsGAC | p.S20D | Missense | 2/6 | - | 1 |
2-271880-TC-GA | c.58_59inv | p.S20E | Missense | 2/6 | - | 1 |
2-271880-TC-GG | c.58_59delinsGG | p.S20G | Missense | 2/6 | - | 1 |
2-271880-T-G | c.58T>G | p.S20A | Missense | 2/6 | - | 1 |
2-271881-CA-TT | c.59_60delinsTT | p.S20F | Missense | 2/6 | - | 1 |
2-271881-C-T | c.59C>T | p.S20L | Missense | 2/6 | - | 2 |
2-271885-C-A | c.63C>A | p.P21= | Synonymous | 2/6 | - | 1 |
2-271885-C-G | c.63C>G | p.P21= | Synonymous | 2/6 | - | 1 |
2-271885-C-T | c.63C>T | p.P21= | Synonymous | 2/6 | - | 2 |
2-271887-T-A | c.65T>A | p.I22N | Missense | 2/6 | - | 1 |
2-271896-CA-AC | c.74_75delinsAC | p.A25D | Missense | 2/6 | - | 2 |
2-271905-GG-CT | c.83_84delinsCT | p.R28T | Missense | 2/6 | - | 1 |
2-271913-G-A | c.91G>A | p.V31I | Missense | 2/6 | - | 1 |
2-271918-C-A | c.96C>A | p.T32= | Synonymous | 2/6 | - | 1 |
2-271918-C-G | c.96C>G | p.T32= | Synonymous | 2/6 | - | 1 |
2-271918-C-T | c.96C>T | p.T32= | Synonymous | 2/6 | - | 3 |
2-271919-G-A | c.97G>A | p.D33N | Missense | 2/6 | - | 3 |
2-271923-A-G | c.101A>G | p.Q34R | Missense | 2/6 | - | 1 |
2-271928-A-G | c.106A>G | p.I36V | Missense | 2/6 | - | 2 |
2-271932-C-T | c.110C>T | p.S37L | Missense | 2/6 | - | 1 |
2-271934-G-C | c.112G>C | p.E38Q | Missense | 2/6 | - | 1 |
2-271936-G-A | c.114G>A | p.E38= | Synonymous | 2/6 | - | 1 |
2-271936-G-C | c.114G>C | p.E38D | Missense | 2/6 | - | 1 |
2-271940-G-A | c.117+1G>A | - | IntronicSNV | - | 2/5 | 1 |
2-272047-A-G | c.128A>G | p.D43G | Missense | 3/6 | - | 3 |
2-272048-C-T | c.129C>T | p.D43= | Synonymous | 3/6 | - | 5 |
2-272049-A-C | c.130A>C | p.S44R | Missense | 3/6 | - | 1 |
2-272051-C-A | c.132C>A | p.S44R | Missense | 3/6 | - | 1 |
2-272051-C-G | c.132C>G | p.S44R | Missense | 3/6 | - | 1 |
2-272051-C-T | c.132C>T | p.S44= | Synonymous | 3/6 | - | 11 |
2-272052-G-A | c.133G>A | p.A45T | Missense | 3/6 | - | 4 |
2-272053-C-T | c.134C>T | p.A45V | Missense | 3/6 | - | 4 |
2-272055-G-A | c.136G>A | p.A46T | Missense | 3/6 | - | 1 |
2-272055-G-T | c.136G>T | p.A46S | Missense | 3/6 | - | 1 |
2-272058-AC-GA | c.139_140delinsGA | p.T47D | Missense | 3/6 | - | 6 |
2-272060-T-G | c.141T>G | p.T47= | Synonymous | 3/6 | - | 1 |
2-272061-T-A | c.142T>A | p.S48T | Missense | 3/6 | - | 1 |
2-272061-TC-CG | c.142_143delinsCG | p.S48R | Missense | 3/6 | - | 1 |
2-272067-T-G | c.148T>G | p.Y50D | Missense | 3/6 | - | 1 |
2-272070-GAG-TTT | c.151_153delinsTTT | p.E51F | Missense | 3/6 | - | 1 |
2-272070-G-C | c.151G>C | p.E51Q | Missense | 3/6 | - | 1 |
2-272070-G-T | c.151G>T | p.E51* | Nonsense | 3/6 | - | 1 |
2-272073-AT-TA | c.154_155delinsTA | p.I52* | Nonsense | 3/6 | - | 1 |
2-272077-G-T | c.158G>T | p.G53V | Missense | 3/6 | - | 1 |
2-272083-C-G | c.164C>G | p.P55R | Missense | 3/6 | - | 2 |
2-272085-C-G | c.166C>G | p.P56A | Missense | 3/6 | - | 2 |
2-272085-C-T | c.166C>T | p.P56S | Missense | 3/6 | - | 1 |
2-272080-A-AC | c.167dup | p.D57* | Nonsense | 3/6 | - | 1 |
2-272080-AC-A | c.167del | p.P56Lfs*9 | Frameshift | 3/6 | - | 3 |
2-272086-C-T | c.167C>T | p.P56L | Missense | 3/6 | - | 1 |
2-272088-GAC-TAA | c.169_171delinsTAA | p.D57* | Nonsense | 3/6 | - | 2 |
2-272088-G-T | c.169G>T | p.D57Y | Missense | 3/6 | - | 1 |
2-272094-C-G | c.175C>G | p.R59G | Missense | 3/6 | - | 1 |
2-272114-G-A | c.195G>A | p.K65= | Synonymous | 3/6 | - | 1 |
2-272115-AG-CA | c.196_197delinsCA | p.R66Q | Missense | 3/6 | - | 1 |
2-272115-A-T | c.196A>T | p.R66W | Missense | 3/6 | - | 1 |
2-272118-C-A | c.199C>A | p.H67N | Missense | 3/6 | - | 1 |
2-272118-C-G | c.199C>G | p.H67D | Missense | 3/6 | - | 1 |
2-272118-C-T | c.199C>T | p.H67Y | Missense | 3/6 | - | 2 |
2-272120-C-T | c.201C>T | p.H67= | Synonymous | 3/6 | - | 1 |
2-272121-G-A | c.202G>A | p.G68S | Missense | 3/6 | - | 1 |
2-272122-G-A | c.203G>A | p.G68D | Missense | 3/6 | - | 2 |
2-272127-C-T | c.208C>T | p.P70S | Missense | 3/6 | - | 2 |
2-272128-C-T | c.209C>T | p.P70L | Missense | 3/6 | - | 1 |
2-272130-A-G | c.211A>G | p.M71V | Missense | 3/6 | - | 1 |
2-272139-GTT-ATG | c.220_222delinsATG | p.V74M | Missense | 3/6 | - | 1 |
2-272145-C-T | c.226C>T | p.R76W | Missense | 3/6 | - | 2 |
2-272146-G-A | c.227G>A | p.R76Q | Missense | 3/6 | - | 1 |
2-272154-C-T | c.231+4C>T | - | IntronicSNV | - | 3/5 | 1 |
2-272203-C-T | c.231+53C>T | - | IntronicSNV | - | 3/5 | 32 |
2-272227-C-T | c.231+77C>T | - | IntronicSNV | - | 3/5 | 1 |
2-272232-G-A | c.231+82G>A | - | IntronicSNV | - | 3/5 | 1 |
2-272273-C-G | c.231+123C>G | - | IntronicSNV | - | 3/5 | 1 |
2-272273-C-T | c.231+123C>T | - | IntronicSNV | - | 3/5 | 1 |
2-272301-G-C | c.231+151G>C | - | IntronicSNV | - | 3/5 | 1 |
2-272840-G-A | c.231+690G>A | - | IntronicSNV | - | 3/5 | 4 |
2-272903-A-C | c.231+753A>C | - | IntronicSNV | - | 3/5 | 1 |
2-272915-A-G | c.231+765A>G | - | IntronicSNV | - | 3/5 | 1 |
2-272926-A-G | c.231+776A>G | - | IntronicSNV | - | 3/5 | 6 |
2-273017-GAA-G | c.231+870_231+871del | - | IntronicDeletion | - | 3/5 | 1 |
2-273058-A-C | c.231+908A>C | - | IntronicSNV | - | 3/5 | 1 |
2-273070-A-G | c.231+920A>G | - | IntronicSNV | - | 3/5 | 9 |
2-273621-C-G | c.231+1471C>G | - | IntronicSNV | - | 3/5 | 3 |
2-274341-G-A | c.232-799G>A | - | IntronicSNV | - | 3/5 | 1 |
2-274672-C-G | c.232-468C>G | - | IntronicSNV | - | 3/5 | 1 |
2-275144-CC-TG | c.236_237delinsTG | p.T79M | Missense | 4/6 | - | 1 |
2-275144-C-T | c.236C>T | p.T79I | Missense | 4/6 | - | 1 |
2-275150-A-T | c.242A>T | p.E81V | Missense | 4/6 | - | 1 |
2-275152-G-A | c.244G>A | p.D82N | Missense | 4/6 | - | 1 |
2-275152-G-T | c.244G>T | p.D82Y | Missense | 4/6 | - | 1 |
2-275155-T-C | c.247T>C | p.F83L | Missense | 4/6 | - | 1 |
2-275157-T-A | c.249T>A | p.F83L | Missense | 4/6 | - | 1 |
2-275157-T-G | c.249T>G | p.F83L | Missense | 4/6 | - | 1 |
2-275160-C-A | c.252C>A | p.A84= | Synonymous | 4/6 | - | 1 |
2-275160-C-G | c.252C>G | p.A84= | Synonymous | 4/6 | - | 1 |
2-275160-C-T | c.252C>T | p.A84= | Synonymous | 4/6 | - | 2 |
2-275167-G-T | c.259G>T | p.D87Y | Missense | 4/6 | - | 1 |
2-275176-C-T | c.268C>T | p.L90= | Synonymous | 4/6 | - | 2 |
2-275178-A-C | c.270A>C | p.L90= | Synonymous | 4/6 | - | 1 |
2-275178-A-G | c.270A>G | p.L90= | Synonymous | 4/6 | - | 1 |
2-275178-A-T | c.270A>T | p.L90= | Synonymous | 4/6 | - | 1 |
2-275179-T-C | c.271T>C | p.C91R | Missense | 4/6 | - | 3 |
2-275181-T-C | c.273T>C | p.C91= | Synonymous | 4/6 | - | 1 |
2-275188-G-A | c.280G>A | p.E94K | Missense | 4/6 | - | 1 |
2-275191-A-G | c.283A>G | p.S95G | Missense | 4/6 | - | 1 |
2-275588-A-G | c.293+387A>G | - | IntronicSNV | - | 4/5 | 1 |
2-276346-T-C | c.294-634T>C | - | IntronicSNV | - | 4/5 | 2 |
2-276908-C-A | c.294-72C>A | - | IntronicSNV | - | 4/5 | 4 |
2-276908-C-G | c.294-72C>G | - | IntronicSNV | - | 4/5 | 4 |
2-276942-A-G | c.294-38A>G | - | IntronicSNV | - | 4/5 | 6 |
2-276987-A-T | c.301A>T | p.N101Y | Missense | 5/6 | - | 1 |
2-276988-A-G | c.302A>G | p.N101S | Missense | 5/6 | - | 1 |
2-276991-G-A | c.305G>A | p.R102K | Missense | 5/6 | - | 1 |
2-276999-A-G | c.313A>G | p.N105D | Missense | 5/6 | - | 1 |
2-277000-A-G | c.314A>G | p.N105S | Missense | 5/6 | - | 1 |
2-277002-C-G | c.316C>G | p.Q106E | Missense | 5/6 | - | 1 |
2-277002-C-T | c.316C>T | p.Q106* | Nonsense | 5/6 | - | 1 |
2-277003-A-G | c.317A>G | p.Q106R | Missense | 5/6 | - | 29 |
2-277013-C-A | c.327C>A | p.T109= | Synonymous | 5/6 | - | 1 |
2-277013-C-G | c.327C>G | p.T109= | Synonymous | 5/6 | - | 1 |
2-277013-C-T | c.327C>T | p.T109= | Synonymous | 5/6 | - | 3 |
2-277017-A-C | c.331A>C | p.K111Q | Missense | 5/6 | - | 1 |
2-277020-G-C | c.334G>C | p.A112P | Missense | 5/6 | - | 3 |
2-277031-A-G | c.345A>G | p.E115= | Synonymous | 5/6 | - | 1 |
2-277034-A-G | c.348A>G | p.L116= | Synonymous | 5/6 | - | 1 |
2-277042-G-A | c.356G>A | p.S119N | Missense | 5/6 | - | 2 |
2-277047-G-C | c.361G>C | p.D121H | Missense | 5/6 | - | 1 |
2-277048-A-T | c.362A>T | p.D121V | Missense | 5/6 | - | 1 |
2-277049-T-A | c.363T>A | p.D121E | Missense | 5/6 | - | 1 |
2-277049-T-C | c.363T>C | p.D121= | Synonymous | 5/6 | - | 1 |
2-277049-T-G | c.363T>G | p.D121E | Missense | 5/6 | - | 1 |
2-277050-C-G | c.364C>G | p.P122A | Missense | 5/6 | - | 1 |
2-277050-C-T | c.364C>T | p.P122S | Missense | 5/6 | - | 2 |
2-277052-A-C | c.366A>C | p.P122= | Synonymous | 5/6 | - | 1 |
2-277052-A-G | c.366A>G | p.P122= | Synonymous | 5/6 | - | 1 |
2-277052-A-T | c.366A>T | p.P122= | Synonymous | 5/6 | - | 1 |
2-277055-A-G | c.369A>G | p.Q123= | Synonymous | 5/6 | - | 1 |
2-277053-CA-C | c.372del | p.K124Nfs*61 | Frameshift | 5/6 | - | 1 |
2-277062-C-T | c.376C>T | p.L126F | Missense | 5/6 | - | 1 |
2-277063-T-C | c.377T>C | p.L126P | Missense | 5/6 | - | 1 |
2-277062-CTTA-C | c.382_384del | p.I128del | InFrameDeletion | 5/6 | - | 1 |
2-277071-G-C | c.385G>C | p.E129Q | Missense | 5/6 | - | 2 |
2-277076-T-A | c.390T>A | p.D130E | Missense | 5/6 | - | 1 |
2-277076-T-G | c.390T>G | p.D130E | Missense | 5/6 | - | 1 |
2-277077-C-A | c.391C>A | p.P131T | Missense | 5/6 | - | 2 |
2-277079-C-A | c.393C>A | p.P131= | Synonymous | 5/6 | - | 3 |
2-277082-T-A | c.396T>A | p.Y132* | Nonsense | 5/6 | - | 1 |
2-277082-T-G | c.396T>G | p.Y132* | Nonsense | 5/6 | - | 1 |
2-277085-T-A | c.399T>A | p.Y133* | Nonsense | 5/6 | - | 1 |
2-277085-T-G | c.399T>G | p.Y133* | Nonsense | 5/6 | - | 1 |
2-277229-G-A | c.402G>A | p.G134= | Synonymous | 6/6 | - | 1 |
2-277229-G-T | c.402G>T | p.G134= | Synonymous | 6/6 | - | 1 |
2-277233-G-T | c.406G>T | p.D136Y | Missense | 6/6 | - | 1 |
2-277235-C-T | c.408C>T | p.D136= | Synonymous | 6/6 | - | 1 |
2-277237-C-T | c.410C>T | p.S137F | Missense | 6/6 | - | 1 |
2-277239-G-T | c.412G>T | p.D138Y | Missense | 6/6 | - | 1 |
2-277245-G-C | c.418G>C | p.E140Q | Missense | 6/6 | - | 1 |
2-277249-C-T | c.422C>T | p.T141M | Missense | 6/6 | - | 1 |
2-277250-G-A | c.423G>A | p.T141= | Synonymous | 6/6 | - | 1 |
2-277250-G-C | c.423G>C | p.T141= | Synonymous | 6/6 | - | 1 |
2-277250-G-T | c.423G>T | p.T141= | Synonymous | 6/6 | - | 2 |
2-277264-G-T | c.437G>T | p.C146F | Missense | 6/6 | - | 2 |
2-277266-G-A | c.439G>A | p.V147I | Missense | 6/6 | - | 1 |
2-277269-AG-GC | c.442_443delinsGC | p.R148A | Missense | 6/6 | - | 1 |
2-277270-G-T | c.443G>T | p.R148M | Missense | 6/6 | - | 1 |
2-277274-C-A | c.447C>A | p.C149* | Nonsense | 6/6 | - | 3 |
2-277277-C-T | c.450C>T | p.C150= | Synonymous | 6/6 | - | 1 |
2-277290-G-T | c.463G>T | p.E155* | Nonsense | 6/6 | - | 1 |
2-277292-G-A | c.465G>A | p.E155= | Synonymous | 6/6 | - | 3 |
2-277297-C-A | c.470C>A | p.A157D | Missense | 6/6 | - | 1 |
2-277297-C-T | c.470C>T | p.A157V | Missense | 6/6 | - | 1 |
2-277951-C-A | c.*647C>A | - | 3-UTRSNV | 6/6 | - | 1 |
2-277951-C-T | c.*647C>T | - | 3-UTRSNV | 6/6 | - | 1 |
2-277995-A-G | c.*691A>G | - | 3-UTRSNV | 6/6 | - | 4 |