Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
3-32148214-C-T | c.11C>T | p.A4V | Missense | 1/8 | - | 1 |
3-32148217-C-T | c.14C>T | p.P5L | Missense | 1/8 | - | 2 |
3-32148237-G-T | c.34G>T | p.G12C | Missense | 1/8 | - | 1 |
3-32148241-C-T | c.38C>T | p.S13L | Missense | 1/8 | - | 1 |
3-32148243-G-A | c.40G>A | p.G14R | Missense | 1/8 | - | 1 |
3-32148243-GG-AA | c.40_41delinsAA | p.G14K | Missense | 1/8 | - | 1 |
3-32148244-G-A | c.41G>A | p.G14E | Missense | 1/8 | - | 2 |
3-32148244-G-C | c.41G>C | p.G14A | Missense | 1/8 | - | 1 |
3-32153653-C-T | c.47+5403C>T | - | IntronicSNV | - | 1/7 | 1 |
3-32153963-C-CA | c.47+5721dup | - | IntronicInsertion | - | 1/7 | 1 |
3-32154358-A-G | c.47+6108A>G | - | IntronicSNV | - | 1/7 | 1 |
3-32157446-AT-A | c.47+9203del | - | IntronicDeletion | - | 1/7 | 1 |
3-32169576-C-T | c.56C>T | p.A19V | Missense | 2/8 | - | 1 |
3-32169581-G-A | c.61G>A | p.A21T | Missense | 2/8 | - | 1 |
3-32169582-C-A | c.62C>A | p.A21E | Missense | 2/8 | - | 2 |
3-32169582-CA-AC | c.62_63delinsAC | p.A21D | Missense | 2/8 | - | 1 |
3-32169582-C-T | c.62C>T | p.A21V | Missense | 2/8 | - | 1 |
3-32169589-A-G | c.69A>G | p.I23M | Missense | 2/8 | - | 1 |
3-32169595-T-A | c.75T>A | p.G25= | Synonymous | 2/8 | - | 1 |
3-32169595-T-C | c.75T>C | p.G25= | Synonymous | 2/8 | - | 1 |
3-32169595-T-G | c.75T>G | p.G25= | Synonymous | 2/8 | - | 1 |
3-32169601-T-C | c.81T>C | p.N27= | Synonymous | 2/8 | - | 2 |
3-32169603-T-C | c.83T>C | p.V28A | Missense | 2/8 | - | 1 |
3-32169607-G-C | c.87G>C | p.K29N | Missense | 2/8 | - | 3 |
3-32169607-G-T | c.87G>T | p.K29N | Missense | 2/8 | - | 1 |
3-32169609-A-C | c.89A>C | p.K30T | Missense | 2/8 | - | 1 |
3-32169610-A-C | c.90A>C | p.K30N | Missense | 2/8 | - | 2 |
3-32169610-A-T | c.90A>T | p.K30N | Missense | 2/8 | - | 1 |
3-32169614-C-T | c.94C>T | p.Q32* | Nonsense | 2/8 | - | 1 |
3-32169618-A-C | c.98A>C | p.K33T | Missense | 2/8 | - | 1 |
3-32169619-A-T | c.99A>T | p.K33N | Missense | 2/8 | - | 2 |
3-32169622-T-C | c.102T>C | p.F34= | Synonymous | 2/8 | - | 1 |
3-32169623-G-C | c.103G>C | p.A35P | Missense | 2/8 | - | 1 |
3-32169629-A-G | c.109A>G | p.T37A | Missense | 2/8 | - | 1 |
3-32169635-CAAGATGTGG-C | c.115_123del | p.K39_W41del | InFrameDeletion | 2/8 | - | 1 |
3-32169638-A-G | c.118A>G | p.M40V | Missense | 2/8 | - | 1 |
3-32169648-T-C | c.128T>C | p.F43S | Missense | 2/8 | - | 1 |
3-32169650-G-A | c.130G>A | p.E44K | Missense | 2/8 | - | 2 |
3-32169654-A-C | c.134A>C | p.E45A | Missense | 2/8 | - | 1 |
3-32169656-A-G | c.136A>G | p.T46A | Missense | 2/8 | - | 1 |
3-32169659-GTG-ATC | c.139_141delinsATC | p.V47I | Missense | 2/8 | - | 1 |
3-32169660-T-A | c.140T>A | p.V47E | Missense | 2/8 | - | 1 |
3-32169665-G-A | c.145G>A | p.G49S | Missense | 2/8 | - | 1 |
3-32169668-A-G | c.148A>G | p.R50G | Missense | 2/8 | - | 1 |
3-32169668-AGA-CAT | c.148_150delinsCAT | p.R50H | Missense | 2/8 | - | 1 |
3-32169669-G-T | c.149G>T | p.R50I | Missense | 2/8 | - | 1 |
3-32169673-A-G | c.153A>G | p.K51= | Synonymous | 2/8 | - | 1 |
3-32169674-C-CA | c.154_155insA | p.L52Hfs*7 | Frameshift | 2/8 | - | 1 |
3-32169681-A-T | c.161A>T | p.D54V | Missense | 2/8 | - | 1 |
3-32169683-CA-C | c.163del | p.I55Sfs*2 | Frameshift | 2/8 | - | 1 |
3-32169689-A-G | c.169A>G | p.N57D | Missense | 2/8 | - | 3 |
3-32169691-T-C | c.171T>C | p.N57= | Synonymous | 2/8 | - | 1 |
3-32169692-A-C | c.172A>C | p.N58H | Missense | 2/8 | - | 1 |
3-32169693-A-G | c.173A>G | p.N58S | Missense | 2/8 | - | 1 |
3-32169695-GA-AG | c.175_176delinsAG | p.D59S | Missense | 2/8 | - | 1 |
3-32169701-G-A | c.181G>A | p.E61K | Missense | 2/8 | - | 3 |
3-32169707-G-A | c.187G>A | p.V63I | Missense | 2/8 | - | 1 |
3-32169712-A-G | c.192A>G | p.K64= | Synonymous | 2/8 | - | 1 |
3-32169714-A-G | c.194A>G | p.Y65C | Missense | 2/8 | - | 1 |
3-32169716-C-T | c.196C>T | p.L66F | Missense | 2/8 | - | 1 |
3-32169719-C-T | c.199C>T | p.P67S | Missense | 2/8 | - | 1 |
3-32169743-G-A | c.223G>A | p.V75M | Missense | 2/8 | - | 1 |
3-32169752-C-T | c.225+7C>T | - | IntronicSNV | - | 2/7 | 1 |
3-32169792-G-A | c.225+47G>A | - | IntronicSNV | - | 2/7 | 1 |
3-32169920-T-G | c.225+175T>G | - | IntronicSNV | - | 2/7 | 1 |
3-32177294-G-C | c.226-2785G>C | - | IntronicSNV | - | 2/7 | 1 |
3-32177294-G-T | c.226-2785G>T | - | IntronicSNV | - | 2/7 | 1 |
3-32179768-A-G | c.226-311A>G | - | IntronicSNV | - | 2/7 | 1 |
3-32179965-G-T | c.226-114G>T | - | IntronicSNV | - | 2/7 | 1 |
3-32180085-A-G | c.232A>G | p.M78V | Missense | 3/8 | - | 2 |
3-32180091-A-C | c.238A>C | p.N80H | Missense | 3/8 | - | 1 |
3-32180099-C-T | c.246C>T | p.S82= | Synonymous | 3/8 | - | 1 |
3-32180100-G-A | c.247G>A | p.E83K | Missense | 3/8 | - | 14 |
3-32180109-C-T | c.256C>T | p.Q86* | Nonsense | 3/8 | - | 1 |
3-32180112-G-A | c.259G>A | p.D87N | Missense | 3/8 | - | 1 |
3-32180115-G-T | c.262G>T | p.A88S | Missense | 3/8 | - | 1 |
3-32180118-G-T | c.265G>T | p.D89Y | Missense | 3/8 | - | 1 |
3-32180120-C-A | c.267C>A | p.D89E | Missense | 3/8 | - | 1 |
3-32180120-C-G | c.267C>G | p.D89E | Missense | 3/8 | - | 1 |
3-32180140-C-T | c.287C>T | p.P96L | Missense | 3/8 | - | 1 |
3-32180142-C-A | c.289C>A | p.H97N | Missense | 3/8 | - | 1 |
3-32180145-C-T | c.292C>T | p.Q98* | Nonsense | 3/8 | - | 1 |
3-32180151-A-C | c.298A>C | p.I100L | Missense | 3/8 | - | 1 |
3-32180154-C-G | c.301C>G | p.H101D | Missense | 3/8 | - | 1 |
3-32180154-C-T | c.301C>T | p.H101Y | Missense | 3/8 | - | 1 |
3-32180158-G-A | c.305G>A | p.R102K | Missense | 3/8 | - | 1 |
3-32180162-C-G | c.309C>G | p.I103M | Missense | 3/8 | - | 1 |
3-32180168-T-A | c.315T>A | p.D105E | Missense | 3/8 | - | 1 |
3-32180168-T-G | c.315T>G | p.D105E | Missense | 3/8 | - | 2 |
3-32180174-C-G | c.321C>G | p.I107M | Missense | 3/8 | - | 1 |
3-32180175-A-C | c.322A>C | p.T108P | Missense | 3/8 | - | 1 |
3-32180188-C-T | c.335C>T | p.P112L | Missense | 3/8 | - | 3 |
3-32180192-G-A | c.339G>A | p.K113= | Synonymous | 3/8 | - | 1 |
3-32180197-C-T | c.344C>T | p.A115V | Missense | 3/8 | - | 2 |
3-32180198-G-A | c.345G>A | p.A115= | Synonymous | 3/8 | - | 3 |
3-32180198-G-C | c.345G>C | p.A115= | Synonymous | 3/8 | - | 1 |
3-32180198-G-T | c.345G>T | p.A115= | Synonymous | 3/8 | - | 2 |
3-32180203-G-T | c.350G>T | p.G117V | Missense | 3/8 | - | 1 |
3-32180207-C-A | c.354C>A | p.I118= | Synonymous | 3/8 | - | 2 |
3-32180207-C-T | c.354C>T | p.I118= | Synonymous | 3/8 | - | 3 |
3-32180208-A-G | c.355A>G | p.T119A | Missense | 3/8 | - | 1 |
3-32180216-C-G | c.363C>G | p.I121M | Missense | 3/8 | - | 2 |
3-32180227-G-A | c.366+8G>A | - | IntronicSNV | - | 3/7 | 2 |
3-32181652-A-T | c.367-68A>T | - | IntronicSNV | - | 3/7 | 2 |
3-32181682-G-A | c.367-38G>A | - | IntronicSNV | - | 3/7 | 1 |
3-32181684-G-A | c.367-36G>A | - | IntronicSNV | - | 3/7 | 4 |
3-32181684-G-T | c.367-36G>T | - | IntronicSNV | - | 3/7 | 4 |
3-32181692-C-T | c.367-28C>T | - | IntronicSNV | - | 3/7 | 1 |
3-32181721-G-A | c.368G>A | p.G123D | Missense | 4/8 | - | 1 |
3-32181721-GC-AG | c.368_369delinsAG | p.G123E | Missense | 4/8 | - | 2 |
3-32181723-A-G | c.370A>G | p.I124V | Missense | 4/8 | - | 23 |
3-32181725-A-G | c.372A>G | p.I124M | Missense | 4/8 | - | 3 |
3-32181728-C-T | c.375C>T | p.D125= | Synonymous | 4/8 | - | 1 |
3-32181733-G-A | c.380G>A | p.G127D | Missense | 4/8 | - | 2 |
3-32181735-C-A | c.382C>A | p.P128T | Missense | 4/8 | - | 1 |
3-32181744-C-A | c.391C>A | p.L131M | Missense | 4/8 | - | 3 |
3-32181749-G-A | c.396G>A | p.K132= | Synonymous | 4/8 | - | 2 |
3-32181752-C-A | c.399C>A | p.L133= | Synonymous | 4/8 | - | 1 |
3-32181752-C-G | c.399C>G | p.L133= | Synonymous | 4/8 | - | 1 |
3-32181752-C-T | c.399C>T | p.L133= | Synonymous | 4/8 | - | 1 |
3-32181756-TC-CT | c.403_404delinsCT | p.S135L | Missense | 4/8 | - | 1 |
3-32181761-C-T | c.408C>T | p.D136= | Synonymous | 4/8 | - | 10 |
3-32181764-C-A | c.411C>A | p.I137= | Synonymous | 4/8 | - | 2 |
3-32181764-C-T | c.411C>T | p.I137= | Synonymous | 4/8 | - | 2 |
3-32181767-C-G | c.414C>G | p.I138M | Missense | 4/8 | - | 2 |
3-32181767-C-T | c.414C>T | p.I138= | Synonymous | 4/8 | - | 1 |
3-32181768-C-G | c.415C>G | p.R139G | Missense | 4/8 | - | 2 |
3-32181769-G-A | c.416G>A | p.R139H | Missense | 4/8 | - | 2 |
3-32181773-G-C | c.420G>C | p.E140D | Missense | 4/8 | - | 2 |
3-32181773-G-T | c.420G>T | p.E140D | Missense | 4/8 | - | 2 |
3-32181778-T-A | c.425T>A | p.M142K | Missense | 4/8 | - | 1 |
3-32181786-G-A | c.433G>A | p.D145N | Missense | 4/8 | - | 1 |
3-32181797-G-A | c.444G>A | p.V148= | Synonymous | 4/8 | - | 3 |
3-32181797-G-C | c.444G>C | p.V148= | Synonymous | 4/8 | - | 2 |
3-32181797-G-T | c.444G>T | p.V148= | Synonymous | 4/8 | - | 2 |
3-32181803-G-A | c.450G>A | p.M150I | Missense | 4/8 | - | 1 |
3-32181803-G-C | c.450G>C | p.M150I | Missense | 4/8 | - | 1 |
3-32181803-G-T | c.450G>T | p.M150I | Missense | 4/8 | - | 1 |
3-32181804-G-A | c.451G>A | p.G151R | Missense | 4/8 | - | 1 |
3-32181804-G-C | c.451G>C | p.G151R | Missense | 4/8 | - | 1 |
3-32181812-C-T | c.459C>T | p.N153= | Synonymous | 4/8 | - | 1 |
3-32181818-C-A | c.465C>A | p.A155= | Synonymous | 4/8 | - | 3 |
3-32181818-C-G | c.465C>G | p.A155= | Synonymous | 4/8 | - | 3 |
3-32181818-C-T | c.465C>T | p.A155= | Synonymous | 4/8 | - | 3 |
3-32181820-A-G | c.467A>G | p.N156S | Missense | 4/8 | - | 1 |
3-32181824-G-C | c.471G>C | p.E157D | Missense | 4/8 | - | 1 |
3-32181824-G-T | c.471G>T | p.E157D | Missense | 4/8 | - | 1 |
3-32181825-G-A | c.472G>A | p.V158M | Missense | 4/8 | - | 1 |
3-32181828-G-A | c.475G>A | p.A159T | Missense | 4/8 | - | 1 |
3-32181829-C-T | c.476C>T | p.A159V | Missense | 4/8 | - | 1 |
3-32181842-C-T | c.489C>T | p.F163= | Synonymous | 4/8 | - | 2 |
3-32181852-A-G | c.499A>G | p.T167A | Missense | 4/8 | - | 1 |
3-32181853-C-T | c.500C>T | p.T167I | Missense | 4/8 | - | 4 |
3-32181854-C-G | c.501C>G | p.T167= | Synonymous | 4/8 | - | 1 |
3-32181857-C-T | c.504C>T | p.I168= | Synonymous | 4/8 | - | 1 |
3-32181860-T-C | c.505+2T>C | - | IntronicSNV | - | 4/7 | 1 |
3-32187880-A-G | c.506-234A>G | - | IntronicSNV | - | 4/7 | 1 |
3-32187943-G-A | c.506-171G>A | - | IntronicSNV | - | 4/7 | 2 |
3-32187943-G-T | c.506-171G>T | - | IntronicSNV | - | 4/7 | 2 |
3-32187990-C-G | c.506-124C>G | - | IntronicSNV | - | 4/7 | 2 |
3-32188006-G-A | c.506-108G>A | - | IntronicSNV | - | 4/7 | 5 |
3-32188112-A-AG | c.506dup | p.S170Qfs*25 | SpliceAcceptorInsertion | 5/8 | - | 1 |
3-32188114-G-A | c.506G>A | p.G169D | Missense | 5/8 | - | 1 |
3-32188116-A-C | c.508A>C | p.S170R | Missense | 5/8 | - | 1 |
3-32188118-C-A | c.510C>A | p.S170R | Missense | 5/8 | - | 1 |
3-32188118-C-CT | c.510_511insT | p.K171* | Nonsense | 5/8 | - | 1 |
3-32188118-C-G | c.510C>G | p.S170R | Missense | 5/8 | - | 1 |
3-32188123-T-C | c.515T>C | p.V172A | Missense | 5/8 | - | 1 |
3-32188128-G-A | c.520G>A | p.E174K | Missense | 5/8 | - | 5 |
3-32188134-G-A | c.526G>A | p.G176S | Missense | 5/8 | - | 1 |
3-32188135-G-A | c.527G>A | p.G176D | Missense | 5/8 | - | 1 |
3-32188140-C-T | c.532C>T | p.L178F | Missense | 5/8 | - | 2 |
3-32188144-T-A | c.536T>A | p.F179Y | Missense | 5/8 | - | 1 |
3-32188145-C-T | c.537C>T | p.F179= | Synonymous | 5/8 | - | 1 |
3-32188149-G-A | c.541G>A | p.E181K | Missense | 5/8 | - | 2 |
3-32188160-G-C | c.552G>C | p.Q184H | Missense | 5/8 | - | 1 |
3-32188160-G-T | c.552G>T | p.Q184H | Missense | 5/8 | - | 1 |
3-32188164-C-G | c.556C>G | p.P186A | Missense | 5/8 | - | 2 |
3-32188168-A-G | c.560A>G | p.N187S | Missense | 5/8 | - | 1 |
3-32188173-C-T | c.565C>T | p.R189* | Nonsense | 5/8 | - | 8 |
3-32188174-G-A | c.566G>A | p.R189Q | Missense | 5/8 | - | 1 |
3-32188176-A-G | c.568A>G | p.I190V | Missense | 5/8 | - | 1 |
3-32188181-C-G | c.573C>G | p.T191= | Synonymous | 5/8 | - | 2 |
3-32188181-C-T | c.573C>T | p.T191= | Synonymous | 5/8 | - | 1 |
3-32188185-G-A | c.577G>A | p.V193I | Missense | 5/8 | - | 1 |
3-32188188-G-T | c.580G>T | p.D194Y | Missense | 5/8 | - | 1 |
3-32188190-T-A | c.582T>A | p.D194E | Missense | 5/8 | - | 1 |
3-32188190-T-G | c.582T>G | p.D194E | Missense | 5/8 | - | 1 |
3-32188195-C-T | c.587C>T | p.A196V | Missense | 5/8 | - | 1 |
3-32188204-T-C | c.596T>C | p.V199A | Missense | 5/8 | - | 1 |
3-32188213-G-A | c.605G>A | p.C202Y | Missense | 5/8 | - | 1 |
3-32188219-C-T | c.611C>T | p.A204V | Missense | 5/8 | - | 1 |
3-32188224-AA-GC | c.616_617delinsGC | p.K206A | Missense | 5/8 | - | 1 |
3-32188225-A-C | c.617A>C | p.K206T | Missense | 5/8 | - | 2 |
3-32188227-G-A | c.618+1G>A | - | IntronicSNV | - | 5/7 | 1 |
3-32188241-CAG-C | c.618+15_618+16del | - | IntronicDeletion | - | 5/7 | 1 |
3-32188249-GA-G | c.618+23del | - | IntronicDeletion | - | 5/7 | 3 |
3-32200233-G-A | c.619-135G>A | - | IntronicSNV | - | 5/7 | 5 |
3-32200322-T-C | c.619-46T>C | - | IntronicSNV | - | 5/7 | 8 |
3-32200373-C-A | c.624C>A | p.I208= | Synonymous | 6/8 | - | 3 |
3-32200373-C-T | c.624C>T | p.I208= | Synonymous | 6/8 | - | 2 |
3-32200384-G-T | c.635G>T | p.G212V | Missense | 6/8 | - | 1 |
3-32200390-G-T | c.641G>T | p.G214V | Missense | 6/8 | - | 1 |
3-32200397-C-T | c.648C>T | p.C216= | Synonymous | 6/8 | - | 3 |
3-32200400-C-T | c.651C>T | p.D217= | Synonymous | 6/8 | - | 3 |
3-32200401-G-A | c.652G>A | p.G218S | Missense | 6/8 | - | 1 |
3-32200402-G-A | c.653G>A | p.G218D | Missense | 6/8 | - | 1 |
3-32200407-C-T | c.658C>T | p.R220C | Missense | 6/8 | - | 2 |
3-32200408-G-A | c.659G>A | p.R220H | Missense | 6/8 | - | 2 |
3-32200420-A-G | c.671A>G | p.N224S | Missense | 6/8 | - | 2 |
3-32200422-A-T | c.673A>T | p.T225S | Missense | 6/8 | - | 1 |
3-32200423-C-G | c.674C>G | p.T225S | Missense | 6/8 | - | 1 |
3-32200424-C-A | c.675C>A | p.T225= | Synonymous | 6/8 | - | 1 |
3-32200424-C-G | c.675C>G | p.T225= | Synonymous | 6/8 | - | 1 |
3-32200424-C-T | c.675C>T | p.T225= | Synonymous | 6/8 | - | 1 |
3-32200431-G-A | c.682G>A | p.A228T | Missense | 6/8 | - | 1 |
3-32200434-G-A | c.685G>A | p.V229I | Missense | 6/8 | - | 3 |
3-32200440-C-T | c.691C>T | p.R231C | Missense | 6/8 | - | 5 |
3-32200452-A-G | c.703A>G | p.M235V | Missense | 6/8 | - | 1 |
3-32200453-T-A | c.704T>A | p.M235K | Missense | 6/8 | - | 1 |
3-32200453-T-C | c.704T>C | p.M235T | Missense | 6/8 | - | 1 |
3-32200456-A-G | c.707A>G | p.E236G | Missense | 6/8 | - | 1 |
3-32200465-CT-C | c.720del | p.F240Lfs*16 | Frameshift | 6/8 | - | 1 |
3-32200470-G-A | c.721G>A | p.A241T | Missense | 6/8 | - | 2 |
3-32200471-C-T | c.722C>T | p.A241V | Missense | 6/8 | - | 3 |
3-32200474-G-C | c.725G>C | p.R242T | Missense | 6/8 | - | 2 |
3-32200478-C-T | c.729C>T | p.I243= | Synonymous | 6/8 | - | 1 |
3-32200489-GC-G | c.742del | p.Q248Kfs*8 | Frameshift | 6/8 | - | 1 |
3-32200494-G-A | c.745G>A | p.V249M | Missense | 6/8 | - | 2 |
3-32200498-C-T | c.749C>T | p.S250F | Missense | 6/8 | - | 1 |
3-32200505-C-T | c.756C>T | p.A252= | Synonymous | 6/8 | - | 1 |
3-32200507-C-T | c.758C>T | p.T253I | Missense | 6/8 | - | 1 |
3-32200508-C-A | c.759C>A | p.T253= | Synonymous | 6/8 | - | 2 |
3-32200508-C-G | c.759C>G | p.T253= | Synonymous | 6/8 | - | 2 |
3-32200508-C-T | c.759C>T | p.T253= | Synonymous | 6/8 | - | 2 |
3-32200519-G-T | c.770G>T | p.S257I | Missense | 6/8 | - | 1 |
3-32200518-A-C | c.769A>C | p.S257R | Missense | 6/8 | - | 1 |
3-32200520-C-A | c.771C>A | p.S257R | Missense | 6/8 | - | 1 |
3-32200520-C-G | c.771C>G | p.S257R | Missense | 6/8 | - | 1 |
3-32200523-C-T | c.774C>T | p.C258= | Synonymous | 6/8 | - | 1 |
3-32200524-G-A | c.775G>A | p.G259R | Missense | 6/8 | - | 4 |
3-32200524-G-C | c.775G>C | p.G259R | Missense | 6/8 | - | 1 |
3-32200523-CG-C | c.778del | p.V260Wfs*4 | Frameshift | 6/8 | - | 1 |
3-32200530-G-A | c.781G>A | p.A261T | Missense | 6/8 | - | 1 |
3-32200531-C-T | c.782C>T | p.A261V | Missense | 6/8 | - | 5 |
3-32200539-A-T | c.790A>T | p.I264F | Missense | 6/8 | - | 2 |
3-32200542-A-T | c.793A>T | p.T265S | Missense | 6/8 | - | 1 |
3-32200543-C-G | c.794C>G | p.T265S | Missense | 6/8 | - | 1 |
3-32200543-C-T | c.794C>T | p.T265I | Missense | 6/8 | - | 2 |
3-32200554-G-A | c.805G>A | p.G269R | Missense | 6/8 | - | 3 |
3-32200554-G-C | c.805G>C | p.G269R | Missense | 6/8 | - | 2 |
3-32200566-C-T | c.817C>T | p.R273C | Missense | 6/8 | - | 8 |
3-32200567-G-A | c.818G>A | p.R273H | Missense | 6/8 | - | 3 |
3-32200567-GC-AA | c.818_819delinsAA | p.R273Q | Missense | 6/8 | - | 1 |
3-32200574-G-A | c.825G>A | p.V275= | Synonymous | 6/8 | - | 3 |
3-32200575-G-T | c.826G>T | p.A276S | Missense | 6/8 | - | 2 |
3-32200577-C-A | c.828C>A | p.A276= | Synonymous | 6/8 | - | 1 |
3-32200577-C-G | c.828C>G | p.A276= | Synonymous | 6/8 | - | 1 |
3-32200577-C-T | c.828C>T | p.A276= | Synonymous | 6/8 | - | 2 |
3-32200588-C-T | c.839C>T | p.A280V | Missense | 6/8 | - | 20 |
3-32200591-G-A | c.842G>A | p.R281K | Missense | 6/8 | - | 4 |
3-32200595-T-C | c.846T>C | p.T282= | Synonymous | 6/8 | - | 1 |
3-32200597-G-C | c.848G>C | p.G283A | Missense | 6/8 | - | 1 |
3-32200630-C-A | c.852+29C>A | - | IntronicSNV | - | 6/7 | 2 |
3-32200630-C-G | c.852+29C>G | - | IntronicSNV | - | 6/7 | 2 |
3-32200630-C-T | c.852+29C>T | - | IntronicSNV | - | 6/7 | 2 |
3-32200642-C-A | c.852+41C>A | - | IntronicSNV | - | 6/7 | 1 |
3-32200912-C-T | c.853-148C>T | - | IntronicSNV | - | 6/7 | 1 |
3-32200972-A-C | c.853-88A>C | - | IntronicSNV | - | 6/7 | 2 |
3-32200972-A-G | c.853-88A>G | - | IntronicSNV | - | 6/7 | 2 |
3-32200972-A-T | c.853-88A>T | - | IntronicSNV | - | 6/7 | 2 |
3-32200973-G-A | c.853-87G>A | - | IntronicSNV | - | 6/7 | 1 |
3-32200973-G-GA | c.853-79dup | - | IntronicInsertion | - | 6/7 | 1 |
3-32201062-C-A | c.855C>A | p.T285= | Synonymous | 7/8 | - | 1 |
3-32201069-G-C | c.862G>C | p.E288Q | Missense | 7/8 | - | 3 |
3-32201085-T-C | c.878T>C | p.M293T | Missense | 7/8 | - | 1 |
3-32201093-G-T | c.886G>T | p.G296W | Missense | 7/8 | - | 1 |
3-32201097-A-G | c.890A>G | p.Q297R | Missense | 7/8 | - | 2 |
3-32201096-CA-C | c.893del | p.K298Sfs*102 | Frameshift | 7/8 | - | 1 |
3-32201122-T-A | c.915T>A | p.S305= | Synonymous | 7/8 | - | 1 |
3-32201122-T-C | c.915T>C | p.S305= | Synonymous | 7/8 | - | 1 |
3-32201122-T-G | c.915T>G | p.S305= | Synonymous | 7/8 | - | 1 |
3-32201122-T-TAGCATCCTTCCTAGCACACCTCTTGCATGG | c.915_916insAGCATCCTTCCTAGCACACCTCTTGCATGG | p.S305_A306insSILPSTPLAW | InFrameInsertion | 7/8 | - | 2 |
3-32201122-T-TTCAATTTTGCCATCCACTCCCCTGGCCTGG | c.915_916insTCAATTTTGCCATCCACTCCCCTGGCCTGG | p.S305_A306insSILPSTPLAW | InFrameInsertion | 7/8 | - | 1 |
3-32201124-C-G | c.917C>G | p.A306G | Missense | 7/8 | - | 2 |
3-32201132-T-C | c.925T>C | p.Y309H | Missense | 7/8 | - | 1 |
3-32201135-C-T | c.928C>T | p.R310C | Missense | 7/8 | - | 2 |
3-32201136-G-A | c.929G>A | p.R310H | Missense | 7/8 | - | 3 |
3-32201140-C-G | c.933C>G | p.I311M | Missense | 7/8 | - | 1 |
3-32201141-C-T | c.934C>T | p.L312F | Missense | 7/8 | - | 1 |
3-32201154-G-A | c.947G>A | p.G316E | Missense | 7/8 | - | 1 |
3-32201156-C-T | c.949C>T | p.L317= | Synonymous | 7/8 | - | 1 |
3-32201158-A-C | c.951A>C | p.L317= | Synonymous | 7/8 | - | 1 |
3-32201158-A-G | c.951A>G | p.L317= | Synonymous | 7/8 | - | 2 |
3-32201158-A-T | c.951A>T | p.L317= | Synonymous | 7/8 | - | 1 |
3-32201182-G-A | c.959+16G>A | - | IntronicSNV | - | 7/7 | 3 |
3-32202989-CA-C | c.959+1832del | - | IntronicDeletion | - | 7/7 | 1 |
3-32207015-G-A | c.960-291G>A | - | IntronicSNV | - | 7/7 | 1 |
3-32207304-AG-A | c.960del | p.K320Nfs*80 | Frameshift | 8/8 | - | 1 |
3-32207308-T-A | c.962T>A | p.F321Y | Missense | 8/8 | - | 1 |
3-32207310-C-T | c.964C>T | p.P322S | Missense | 8/8 | - | 3 |
3-32207311-C-T | c.965C>T | p.P322L | Missense | 8/8 | - | 4 |
3-32207312-A-C | c.966A>C | p.P322= | Synonymous | 8/8 | - | 1 |
3-32207312-A-G | c.966A>G | p.P322= | Synonymous | 8/8 | - | 1 |
3-32207312-A-T | c.966A>T | p.P322= | Synonymous | 8/8 | - | 1 |
3-32207320-C-T | c.974C>T | p.T325I | Missense | 8/8 | - | 1 |
3-32207323-C-A | c.977C>A | p.A326E | Missense | 8/8 | - | 1 |
3-32207336-C-G | c.990C>G | p.I330M | Missense | 8/8 | - | 1 |
3-32207339-C-T | c.993C>T | p.C331= | Synonymous | 8/8 | - | 1 |
3-32207342-C-T | c.996C>T | p.Y332= | Synonymous | 8/8 | - | 3 |
3-32207343-G-A | c.997G>A | p.E333K | Missense | 8/8 | - | 3 |
3-32207352-C-T | c.1006C>T | p.P336S | Missense | 8/8 | - | 1 |
3-32207355-G-T | c.1009G>T | p.V337F | Missense | 8/8 | - | 1 |
3-32207361-G-T | c.1015G>T | p.E339* | Nonsense | 8/8 | - | 1 |
3-32207363-G-C | c.1017G>C | p.E339D | Missense | 8/8 | - | 1 |
3-32207363-G-T | c.1017G>T | p.E339D | Missense | 8/8 | - | 1 |
3-32207367-TTG-ATC | c.1021_1023delinsATC | p.L341I | Missense | 8/8 | - | 1 |
3-32207371-C-A | c.1025C>A | p.S342Y | Missense | 8/8 | - | 2 |
3-32207373-T-A | c.1027T>A | p.C343S | Missense | 8/8 | - | 1 |
3-32207374-G-C | c.1028G>C | p.C343S | Missense | 8/8 | - | 1 |
3-32207381-G-C | c.1035G>C | p.Q345H | Missense | 8/8 | - | 1 |
3-32207381-G-T | c.1035G>T | p.Q345H | Missense | 8/8 | - | 2 |
3-32207399-A-G | c.1053A>G | p.T351= | Synonymous | 8/8 | - | 1 |
3-32207462-C-T | c.*60C>T | - | 3-UTRSNV | 8/8 | - | 1 |
3-32207534-T-C | c.*132T>C | - | 3-UTRSNV | 8/8 | - | 1 |
3-32207592-A-G | c.*190A>G | - | 3-UTRSNV | 8/8 | - | 1 |
3-32207606-A-G | c.*204A>G | - | 3-UTRSNV | 8/8 | - | 11 |
3-32207732-C-T | c.*330C>T | - | 3-UTRSNV | 8/8 | - | 7 |
3-32207737-A-T | c.*335A>T | - | 3-UTRSNV | 8/8 | - | 7 |
3-32207907-T-A | c.*505T>A | - | 3-UTRSNV | 8/8 | - | 6 |
3-32207907-T-C | c.*505T>C | - | 3-UTRSNV | 8/8 | - | 6 |
3-32207907-T-G | c.*505T>G | - | 3-UTRSNV | 8/8 | - | 6 |
3-32208039-C-A | c.*637C>A | - | 3-UTRSNV | 8/8 | - | 2 |
3-32208039-C-T | c.*637C>T | - | 3-UTRSNV | 8/8 | - | 2 |
3-32208121-A-C | c.*719A>C | - | 3-UTRSNV | 8/8 | - | 2 |
3-32208352-C-T | c.*950C>T | - | 3-UTRSNV | 8/8 | - | 2 |
3-32208431-A-G | c.*1029A>G | - | 3-UTRSNV | 8/8 | - | 7 |
3-32208467-T-G | c.*1065T>G | - | 3-UTRSNV | 8/8 | - | 4 |
3-32208500-C-T | c.*1098C>T | - | 3-UTRSNV | 8/8 | - | 1 |
3-32208621-T-C | c.*1219T>C | - | 3-UTRSNV | 8/8 | - | 7 |
3-32208874-C-T | c.*1472C>T | - | 3-UTRSNV | 8/8 | - | 2 |
3-32208875-T-A | c.*1473T>A | - | 3-UTRSNV | 8/8 | - | 8 |
3-32208875-T-G | c.*1473T>G | - | 3-UTRSNV | 8/8 | - | 8 |
3-32209230-T-C | c.*1828T>C | - | 3-UTRSNV | 8/8 | - | 7 |
3-32209750-T-A | c.*2348T>A | - | 3-UTRSNV | 8/8 | - | 8 |
3-32209750-T-C | c.*2348T>C | - | 3-UTRSNV | 8/8 | - | 8 |
3-32209927-A-G | c.*2525A>G | - | 3-UTRSNV | 8/8 | - | 9 |