Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
9-5892375-G-A | c.-25-75G>A | - | IntronicSNV | - | 1/4 | 2 |
9-5892438-T-C | c.-37T>C | - | IntronicSNV | 1/5 | - | 1 |
9-5892484-G-C | c.10G>C | p.E4Q | Missense | 2/5 | - | 1 |
9-5892502-TA-CT | c.28_29delinsCT | p.Y10L | Missense | 2/5 | - | 1 |
9-5892506-G-A | c.32G>A | p.G11D | Missense | 2/5 | - | 1 |
9-5892506-G-T | c.32G>T | p.G11V | Missense | 2/5 | - | 3 |
9-5892510-C-A | c.36C>A | p.Y12* | Nonsense | 2/5 | - | 1 |
9-5892511-CCC-AAG | c.37_39delinsAAG | p.P13K | Missense | 2/5 | - | 6 |
9-5892525-C-T | c.51C>T | p.H17= | Synonymous | 2/5 | - | 6 |
9-5892527-G-A | c.53G>A | p.G18D | Missense | 2/5 | - | 3 |
9-5892532-TCT-GAG | c.58_60delinsGAG | p.S20E | Missense | 2/5 | - | 1 |
9-5892532-T-G | c.58T>G | p.S20A | Missense | 2/5 | - | 1 |
9-5892533-C-G | c.59C>G | p.S20C | Missense | 2/5 | - | 1 |
9-5892539-C-T | c.65C>T | p.T22I | Missense | 2/5 | - | 2 |
9-5892540-C-A | c.66C>A | p.T22= | Synonymous | 2/5 | - | 1 |
9-5892542-C-T | c.68C>T | p.T23M | Missense | 2/5 | - | 1 |
9-5892543-G-A | c.69G>A | p.T23= | Synonymous | 2/5 | - | 4 |
9-5892543-G-C | c.69G>C | p.T23= | Synonymous | 2/5 | - | 3 |
9-5892543-G-T | c.69G>T | p.T23= | Synonymous | 2/5 | - | 3 |
9-5892545-C-A | c.71C>A | p.A24D | Missense | 2/5 | - | 2 |
9-5892546-T-C | c.72T>C | p.A24= | Synonymous | 2/5 | - | 1 |
9-5892547-G-A | c.73G>A | p.E25K | Missense | 2/5 | - | 1 |
9-5892550-GA-TC | c.76_77inv | p.E26S | Missense | 2/5 | - | 1 |
9-5892550-G-T | c.76G>T | p.E26* | Nonsense | 2/5 | - | 6 |
9-5892551-A-G | c.77A>G | p.E26G | Missense | 2/5 | - | 1 |
9-5892552-G-C | c.77+1G>C | - | IntronicSNV | - | 2/4 | 1 |
9-5893567-T-C | c.77+1016T>C | - | IntronicSNV | - | 2/4 | 1 |
9-5893861-G-A | c.77+1310G>A | - | IntronicSNV | - | 2/4 | 8 |
9-5893861-G-C | c.77+1310G>C | - | IntronicSNV | - | 2/4 | 8 |
9-5893861-G-T | c.77+1310G>T | - | IntronicSNV | - | 2/4 | 8 |
9-5895854-T-A | c.78-1703T>A | - | IntronicSNV | - | 2/4 | 1 |
9-5895854-T-C | c.78-1703T>C | - | IntronicSNV | - | 2/4 | 1 |
9-5895913-A-G | c.78-1644A>G | - | IntronicSNV | - | 2/4 | 1 |
9-5895913-A-T | c.78-1644A>T | - | IntronicSNV | - | 2/4 | 1 |
9-5896003-C-T | c.78-1554C>T | - | IntronicSNV | - | 2/4 | 1 |
9-5897558-GCC-ATG | c.79_81delinsATG | p.A27M | Missense | 3/5 | - | 1 |
9-5897558-GC-CT | c.79_80delinsCT | p.A27L | Missense | 3/5 | - | 33 |
9-5897559-C-A | c.80C>A | p.A27D | Missense | 3/5 | - | 3 |
9-5897559-CC-AG | c.80_81delinsAG | p.A27E | Missense | 3/5 | - | 1 |
9-5897559-C-G | c.80C>G | p.A27G | Missense | 3/5 | - | 1 |
9-5897570-G-A | c.91G>A | p.G31S | Missense | 3/5 | - | 1 |
9-5897571-G-A | c.92G>A | p.G31D | Missense | 3/5 | - | 3 |
9-5897572-C-A | c.93C>A | p.G31= | Synonymous | 3/5 | - | 1 |
9-5897572-C-G | c.93C>G | p.G31= | Synonymous | 3/5 | - | 1 |
9-5897572-C-T | c.93C>T | p.G31= | Synonymous | 3/5 | - | 1 |
9-5897573-A-T | c.94A>T | p.I32F | Missense | 3/5 | - | 2 |
9-5897575-C-A | c.96C>A | p.I32= | Synonymous | 3/5 | - | 2 |
9-5897575-C-T | c.96C>T | p.I32= | Synonymous | 3/5 | - | 3 |
9-5897576-C-A | c.97C>A | p.L33M | Missense | 3/5 | - | 1 |
9-5897576-C-G | c.97C>G | p.L33V | Missense | 3/5 | - | 1 |
9-5897579-A-G | c.100A>G | p.T34A | Missense | 3/5 | - | 1 |
9-5897583-T-A | c.104T>A | p.V35E | Missense | 3/5 | - | 1 |
9-5897588-CT-GC | c.109_110delinsGC | p.L37A | Missense | 3/5 | - | 1 |
9-5897591-G-A | c.112G>A | p.G38R | Missense | 3/5 | - | 1 |
9-5897591-G-C | c.112G>C | p.G38R | Missense | 3/5 | - | 1 |
9-5897591-GGA-AGC | c.112_114delinsAGC | p.G38S | Missense | 3/5 | - | 1 |
9-5897592-G-A | c.113G>A | p.G38E | Missense | 3/5 | - | 1 |
9-5897594-G-T | c.115G>T | p.V39F | Missense | 3/5 | - | 1 |
9-5897596-C-G | c.117C>G | p.V39= | Synonymous | 3/5 | - | 1 |
9-5897597-T-C | c.118T>C | p.L40= | Synonymous | 3/5 | - | 2 |
9-5897597-T-G | c.118T>G | p.L40V | Missense | 3/5 | - | 4 |
9-5897599-A-G | c.120A>G | p.L40= | Synonymous | 3/5 | - | 3 |
9-5897600-C-A | c.121C>A | p.L41M | Missense | 3/5 | - | 4 |
9-5897609-G-A | c.130G>A | p.G44S | Missense | 3/5 | - | 1 |
9-5897610-G-A | c.131G>A | p.G44D | Missense | 3/5 | - | 1 |
9-5897613-G-T | c.134G>T | p.C45F | Missense | 3/5 | - | 1 |
9-5897614-T-G | c.135T>G | p.C45W | Missense | 3/5 | - | 1 |
9-5897616-G-A | c.137G>A | p.W46* | Nonsense | 3/5 | - | 1 |
9-5897618-T-C | c.139T>C | p.Y47H | Missense | 3/5 | - | 1 |
9-5897619-A-G | c.140A>G | p.Y47C | Missense | 3/5 | - | 1 |
9-5897621-TGT-GAG | c.142_144delinsGAG | p.C48E | Missense | 3/5 | - | 1 |
9-5897622-G-A | c.143G>A | p.C48Y | Missense | 3/5 | - | 1 |
9-5897624-AG-CT | c.145_146inv | p.R49L | Missense | 3/5 | - | 1 |
9-5897630-C-T | c.151C>T | p.R51* | Nonsense | 3/5 | - | 2 |
9-5897631-G-A | c.152G>A | p.R51Q | Missense | 3/5 | - | 11 |
9-5897633-A-G | c.154A>G | p.N52D | Missense | 3/5 | - | 3 |
9-5897634-AATGGATACAGAGCCTTGATGGTTGGTAAAGTTCCCACTGCTGAAATCCCT-A | c.155_174+30del | - | SpliceDonorDeletion | 3/5 | 3/4 | 1 |
9-5897638-A-C | c.159A>C | p.G53= | Synonymous | 3/5 | - | 1 |
9-5897645-GC-CG | c.166_167delinsCG | p.A56R | Missense | 3/5 | - | 1 |
9-5897648-T-A | c.169T>A | p.L57M | Missense | 3/5 | - | 1 |
9-5897650-G-C | c.171G>C | p.L57F | Missense | 3/5 | - | 1 |
9-5897650-G-T | c.171G>T | p.L57F | Missense | 3/5 | - | 1 |
9-5898494-A-G | c.174+841A>G | - | IntronicSNV | - | 3/4 | 1 |
9-5898544-C-G | c.174+891C>G | - | IntronicSNV | - | 3/4 | 1 |
9-5900736-C-G | c.174+3083C>G | - | IntronicSNV | - | 3/4 | 1 |
9-5900868-C-G | c.174+3215C>G | - | IntronicSNV | - | 3/4 | 1 |
9-5901131-TA-T | c.174+3488del | - | IntronicDeletion | - | 3/4 | 1 |
9-5901858-C-G | c.174+4205C>G | - | IntronicSNV | - | 3/4 | 1 |
9-5905506-A-T | c.175-1379A>T | - | IntronicSNV | - | 3/4 | 1 |
9-5905507-T-A | c.175-1378T>A | - | IntronicSNV | - | 3/4 | 1 |
9-5906903-G-T | c.193G>T | p.G65C | Missense | 4/5 | - | 1 |
9-5906904-GC-AG | c.194_195delinsAG | p.G65E | Missense | 4/5 | - | 2 |
9-5906907-C-G | c.197C>G | p.T66S | Missense | 4/5 | - | 1 |
9-5906908-T-A | c.198T>A | p.T66= | Synonymous | 4/5 | - | 1 |
9-5906908-T-C | c.198T>C | p.T66= | Synonymous | 4/5 | - | 2 |
9-5906908-T-G | c.198T>G | p.T66= | Synonymous | 4/5 | - | 1 |
9-5906912-T-C | c.202T>C | p.C68R | Missense | 4/5 | - | 2 |
9-5906915-GC-TT | c.205_206delinsTT | p.A69F | Missense | 4/5 | - | 1 |
9-5906925-G-C | c.215G>C | p.R72T | Missense | 4/5 | - | 1 |
9-5906928-G-T | c.218G>T | p.R73I | Missense | 4/5 | - | 1 |
9-5906930-T-C | c.220T>C | p.C74R | Missense | 4/5 | - | 2 |
9-5906938-A-C | c.228A>C | p.Q76H | Missense | 4/5 | - | 1 |
9-5906938-A-T | c.228A>T | p.Q76H | Missense | 4/5 | - | 1 |
9-5906952-A-T | c.242A>T | p.H81L | Missense | 4/5 | - | 3 |
9-5906954-CG-AA | c.244_245delinsAA | p.R82K | Missense | 4/5 | - | 1 |
9-5906954-C-T | c.244C>T | p.R82W | Missense | 4/5 | - | 1 |
9-5906957-G-A | c.247G>A | p.D83N | Missense | 4/5 | - | 1 |
9-5906963-A-C | c.253A>C | p.K85Q | Missense | 4/5 | - | 1 |
9-5906975-C-A | c.265C>A | p.Q89K | Missense | 4/5 | - | 1 |
9-5906976-A-C | c.266A>C | p.Q89P | Missense | 4/5 | - | 1 |
9-5906979-A-G | c.269A>G | p.E90G | Missense | 4/5 | - | 2 |
9-5906980-G-C | c.270G>C | p.E90D | Missense | 4/5 | - | 2 |
9-5906980-G-T | c.270G>T | p.E90D | Missense | 4/5 | - | 4 |
9-5906982-A-C | c.272A>C | p.K91T | Missense | 4/5 | - | 3 |
9-5907358-A-G | c.288+360A>G | - | IntronicSNV | - | 4/4 | 1 |
9-5908643-C-A | c.292C>A | p.P98T | Missense | 5/5 | - | 1 |
9-5908643-C-T | c.292C>T | p.P98S | Missense | 5/5 | - | 3 |
9-5908644-C-A | c.293C>A | p.P98H | Missense | 5/5 | - | 2 |
9-5908647-A-G | c.296A>G | p.N99S | Missense | 5/5 | - | 1 |
9-5908658-GCT-AAG | c.307_309delinsAAG | p.A103K | Missense | 5/5 | - | 1 |
9-5908664-G-C | c.313G>C | p.E105Q | Missense | 5/5 | - | 3 |
9-5908666-G-A | c.315G>A | p.E105= | Synonymous | 5/5 | - | 1 |
9-5908666-G-C | c.315G>C | p.E105D | Missense | 5/5 | - | 1 |
9-5908671-T-A | c.320T>A | p.L107H | Missense | 5/5 | - | 4 |
9-5908677-C-T | c.326C>T | p.A109V | Missense | 5/5 | - | 1 |
9-5908684-G-C | c.333G>C | p.Q111H | Missense | 5/5 | - | 1 |
9-5908684-G-T | c.333G>T | p.Q111H | Missense | 5/5 | - | 1 |
9-5908688-C-T | c.337C>T | p.P113S | Missense | 5/5 | - | 1 |
9-5908689-C-A | c.338C>A | p.P113Q | Missense | 5/5 | - | 2 |
9-5909152-T-G | c.*444T>G | - | 3-UTRSNV | 5/5 | - | 4 |
9-5909259-T-A | c.*551T>A | - | 3-UTRSNV | 5/5 | - | 2 |
9-5909259-T-C | c.*551T>C | - | 3-UTRSNV | 5/5 | - | 2 |
9-5909725-A-G | c.*1017A>G | - | 3-UTRSNV | 5/5 | - | 1 |
9-5909725-A-T | c.*1017A>T | - | 3-UTRSNV | 5/5 | - | 1 |