Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-180882380-A-C | c.1A>C | p.M1? | Missense | 1/9 | - | 2 |
1-180882380-A-T | c.1A>T | p.M1? | Missense | 1/9 | - | 2 |
1-180882384-A-T | c.5A>T | p.E2V | Missense | 1/9 | - | 1 |
1-180882389-A-G | c.10A>G | p.T4A | Missense | 1/9 | - | 1 |
1-180882392-G-A | c.13G>A | p.E5K | Missense | 1/9 | - | 1 |
1-180882395-G-A | c.16G>A | p.A6T | Missense | 1/9 | - | 1 |
1-180882411-C-G | c.32C>G | p.P11R | Missense | 1/9 | - | 1 |
1-180882411-C-T | c.32C>T | p.P11L | Missense | 1/9 | - | 1 |
1-180882413-G-A | c.34G>A | p.A12T | Missense | 1/9 | - | 1 |
1-180882413-GC-CA | c.34_35delinsCA | p.A12Q | Missense | 1/9 | - | 2 |
1-180882413-G-T | c.34G>T | p.A12S | Missense | 1/9 | - | 1 |
1-180882414-C-T | c.35C>T | p.A12V | Missense | 1/9 | - | 1 |
1-180882482-C-G | c.50+53C>G | - | IntronicSNV | - | 1/8 | 1 |
1-180885292-G-A | c.53G>A | p.G18E | Missense | 2/9 | - | 1 |
1-180885295-C-T | c.56C>T | p.P19L | Missense | 2/9 | - | 1 |
1-180885296-C-T | c.57C>T | p.P19= | Synonymous | 2/9 | - | 1 |
1-180885298-A-C | c.59A>C | p.K20T | Missense | 2/9 | - | 1 |
1-180885304-G-T | c.65G>T | p.G22V | Missense | 2/9 | - | 1 |
1-180885313-C-G | c.74C>G | p.T25R | Missense | 2/9 | - | 2 |
1-180885314-A-G | c.75A>G | p.T25= | Synonymous | 2/9 | - | 1 |
1-180885315-GC-CA | c.76_77delinsCA | p.A26H | Missense | 2/9 | - | 1 |
1-180885315-GC-TA | c.76_77delinsTA | p.A26Y | Missense | 2/9 | - | 1 |
1-180885316-C-T | c.77C>T | p.A26V | Missense | 2/9 | - | 1 |
1-180885318-A-T | c.79A>T | p.S27C | Missense | 2/9 | - | 1 |
1-180885324-G-A | c.85G>A | p.V29M | Missense | 2/9 | - | 6 |
1-180885328-A-C | c.89A>C | p.E30A | Missense | 2/9 | - | 1 |
1-180885329-G-C | c.90G>C | p.E30D | Missense | 2/9 | - | 1 |
1-180885329-G-T | c.90G>T | p.E30D | Missense | 2/9 | - | 1 |
1-180885334-C-T | c.95C>T | p.T32I | Missense | 2/9 | - | 1 |
1-180885340-GCT-G | c.101_102del | p.A34Gfs*7 | Frameshift | 2/9 | - | 1 |
1-180885345-G-A | c.106G>A | p.E36K | Missense | 2/9 | - | 2 |
1-180885352-G-A | c.113G>A | p.S38N | Missense | 2/9 | - | 1 |
1-180885357-C-A | c.118C>A | p.P40T | Missense | 2/9 | - | 1 |
1-180885362-G-C | c.123G>C | p.E41D | Missense | 2/9 | - | 1 |
1-180885362-G-T | c.123G>T | p.E41D | Missense | 2/9 | - | 1 |
1-180885366-C-G | c.127C>G | p.Q43E | Missense | 2/9 | - | 7 |
1-180885376-A-G | c.137A>G | p.N46S | Missense | 2/9 | - | 1 |
1-180885377-C-T | c.138C>T | p.N46= | Synonymous | 2/9 | - | 4 |
1-180885381-C-G | c.142C>G | p.H48D | Missense | 2/9 | - | 1 |
1-180885383-C-T | c.144C>T | p.H48= | Synonymous | 2/9 | - | 1 |
1-180885387-C-A | c.148C>A | p.P50T | Missense | 2/9 | - | 1 |
1-180885382-AC-A | c.149del | p.P50Qfs*15 | Frameshift | 2/9 | - | 3 |
1-180885388-C-A | c.149C>A | p.P50Q | Missense | 2/9 | - | 2 |
1-180885391-G-A | c.152G>A | p.R51K | Missense | 2/9 | - | 2 |
1-180885391-G-T | c.152G>T | p.R51I | Missense | 2/9 | - | 1 |
1-180885393-C-A | c.154C>A | p.P52T | Missense | 2/9 | - | 1 |
1-180885397-G-A | c.158G>A | p.W53* | Nonsense | 2/9 | - | 1 |
1-180885398-G-C | c.159G>C | p.W53C | Missense | 2/9 | - | 1 |
1-180885398-G-T | c.159G>T | p.W53C | Missense | 2/9 | - | 1 |
1-180885399-C-T | c.160C>T | p.P54S | Missense | 2/9 | - | 1 |
1-180885400-C-A | c.161C>A | p.P54H | Missense | 2/9 | - | 1 |
1-180885403-G-A | c.164G>A | p.C55Y | Missense | 2/9 | - | 1 |
1-180885406-C-A | c.167C>A | p.P56H | Missense | 2/9 | - | 2 |
1-180885410-G-A | c.171G>A | p.Q57= | Synonymous | 2/9 | - | 1 |
1-180885424-C-T | c.185C>T | p.S62F | Missense | 2/9 | - | 1 |
1-180885426-A-G | c.187A>G | p.S63G | Missense | 2/9 | - | 1 |
1-180885430-T-C | c.191T>C | p.L64P | Missense | 2/9 | - | 35 |
1-180885429-C-T | c.190C>T | p.L64= | Synonymous | 2/9 | - | 3 |
1-180885431-G-A | c.192G>A | p.L64= | Synonymous | 2/9 | - | 2 |
1-180885431-G-C | c.192G>C | p.L64= | Synonymous | 2/9 | - | 2 |
1-180885431-G-T | c.192G>T | p.L64= | Synonymous | 2/9 | - | 2 |
1-180885434-G-A | c.195G>A | p.M65I | Missense | 2/9 | - | 1 |
1-180885435-G-A | c.196G>A | p.A66T | Missense | 2/9 | - | 1 |
1-180885435-GCC-TAA | c.196_198delinsTAA | p.A66* | Nonsense | 2/9 | - | 1 |
1-180885436-C-T | c.197C>T | p.A66V | Missense | 2/9 | - | 1 |
1-180885437-C-A | c.198C>A | p.A66= | Synonymous | 2/9 | - | 1 |
1-180885437-C-G | c.198C>G | p.A66= | Synonymous | 2/9 | - | 1 |
1-180885437-C-T | c.198C>T | p.A66= | Synonymous | 2/9 | - | 1 |
1-180885439-C-A | c.200C>A | p.P67H | Missense | 2/9 | - | 3 |
1-180885435-G-GC | c.202dup | p.Q68Pfs*82 | Frameshift | 2/9 | - | 1 |
1-180885447-TCCCAGGGTATGG-T | c.208_219del | p.P70_W73del | InFrameDeletion | 2/9 | - | 1 |
1-180885448-C-T | c.209C>T | p.P70L | Missense | 2/9 | - | 3 |
1-180885453-G-A | c.214G>A | p.V72I | Missense | 2/9 | - | 4 |
1-180885464-A-C | c.225A>C | p.V75= | Synonymous | 2/9 | - | 3 |
1-180885464-A-G | c.225A>G | p.V75= | Synonymous | 2/9 | - | 3 |
1-180885464-A-T | c.225A>T | p.V75= | Synonymous | 2/9 | - | 3 |
1-180885465-C-T | c.226C>T | p.Q76* | Nonsense | 2/9 | - | 3 |
1-180885471-C-T | c.232C>T | p.Q78* | Nonsense | 2/9 | - | 1 |
1-180885474-G-A | c.235G>A | p.G79S | Missense | 2/9 | - | 2 |
1-180885475-G-A | c.236G>A | p.G79D | Missense | 2/9 | - | 1 |
1-180885475-G-T | c.236G>T | p.G79V | Missense | 2/9 | - | 1 |
1-180885477-C-T | c.238C>T | p.P80S | Missense | 2/9 | - | 1 |
1-180885478-C-T | c.239C>T | p.P80L | Missense | 2/9 | - | 1 |
1-180885483-G-C | c.244G>C | p.V82L | Missense | 2/9 | - | 1 |
1-180885486-C-G | c.247C>G | p.L83V | Missense | 2/9 | - | 2 |
1-180885487-T-C | c.248T>C | p.L83P | Missense | 2/9 | - | 1 |
1-180885490-A-C | c.251A>C | p.E84A | Missense | 2/9 | - | 1 |
1-180885493-C-T | c.254C>T | p.S85F | Missense | 2/9 | - | 7 |
1-180885497-G-A | c.258G>A | p.K86= | Synonymous | 2/9 | - | 1 |
1-180885498-G-A | c.259G>A | p.V87M | Missense | 2/9 | - | 1 |
1-180885499-T-G | c.260T>G | p.V87G | Missense | 2/9 | - | 1 |
1-180885500-G-C | c.261G>C | p.V87= | Synonymous | 2/9 | - | 1 |
1-180885504-GC-TG | c.265_266delinsTG | p.A89C | Missense | 2/9 | - | 2 |
1-180885505-C-T | c.266C>T | p.A89V | Missense | 2/9 | - | 2 |
1-180885512-G-A | c.273G>A | p.K91= | Synonymous | 2/9 | - | 2 |
1-180885513-GAGA-G | c.278_280del | p.K93del | InFrameDeletion | 2/9 | - | 1 |
1-180885521-G-A | c.282G>A | p.M94I | Missense | 2/9 | - | 1 |
1-180885521-G-C | c.282G>C | p.M94I | Missense | 2/9 | - | 1 |
1-180885521-G-T | c.282G>T | p.M94I | Missense | 2/9 | - | 1 |
1-180885525-GTG-ATC | c.286_288delinsATC | p.V96I | Missense | 2/9 | - | 1 |
1-180885526-T-A | c.287T>A | p.V96E | Missense | 2/9 | - | 1 |
1-180885527-G-T | c.288G>T | p.V96= | Synonymous | 2/9 | - | 2 |
1-180885534-C-T | c.295C>T | p.Q99* | Nonsense | 2/9 | - | 1 |
1-180885537-G-T | c.298G>T | p.G100* | Nonsense | 2/9 | - | 1 |
1-180885547-C-T | c.308C>T | p.P103L | Missense | 2/9 | - | 4 |
1-180885553-C-G | c.314C>G | p.S105C | Missense | 2/9 | - | 1 |
1-180885553-C-T | c.314C>T | p.S105F | Missense | 2/9 | - | 1 |
1-180885559-C-T | c.320C>T | p.S107F | Missense | 2/9 | - | 2 |
1-180885565-A-T | c.326A>T | p.E109V | Missense | 2/9 | - | 1 |
1-180885573-T-G | c.334T>G | p.S112A | Missense | 2/9 | - | 2 |
1-180885575-C-A | c.336C>A | p.S112= | Synonymous | 2/9 | - | 1 |
1-180885575-C-G | c.336C>G | p.S112= | Synonymous | 2/9 | - | 1 |
1-180885575-C-T | c.336C>T | p.S112= | Synonymous | 2/9 | - | 3 |
1-180885573-T-TC | c.339dup | p.K114Qfs*36 | Frameshift | 2/9 | - | 1 |
1-180885578-C-A | c.339C>A | p.P113= | Synonymous | 2/9 | - | 1 |
1-180885578-C-G | c.339C>G | p.P113= | Synonymous | 2/9 | - | 1 |
1-180885578-C-T | c.339C>T | p.P113= | Synonymous | 2/9 | - | 1 |
1-180885579-A-G | c.340A>G | p.K114E | Missense | 2/9 | - | 2 |
1-180885588-C-T | c.349C>T | p.Q117* | Nonsense | 2/9 | - | 1 |
1-180885590-A-G | c.351A>G | p.Q117= | Synonymous | 2/9 | - | 1 |
1-180885595-G-A | c.356G>A | p.R119K | Missense | 2/9 | - | 1 |
1-180885597-C-T | c.358C>T | p.R120* | Nonsense | 2/9 | - | 2 |
1-180885601-G-C | c.362G>C | p.G121A | Missense | 2/9 | - | 1 |
1-180885602-C-T | c.363C>T | p.G121= | Synonymous | 2/9 | - | 1 |
1-180885605-G-A | c.366G>A | p.K122= | Synonymous | 2/9 | - | 1 |
1-180885611-G-T | c.372G>T | p.G124= | Synonymous | 2/9 | - | 1 |
1-180885613-G-A | c.374G>A | p.R125K | Missense | 2/9 | - | 2 |
1-180885617-C-T | c.378C>T | p.A126= | Synonymous | 2/9 | - | 2 |
1-180885620-G-A | c.381G>A | p.G127= | Synonymous | 2/9 | - | 1 |
1-180885625-C-T | c.386C>T | p.P129L | Missense | 2/9 | - | 2 |
1-180885633-G-C | c.394G>C | p.G132R | Missense | 2/9 | - | 1 |
1-180885636-TC-CT | c.397_398delinsCT | p.S133L | Missense | 2/9 | - | 1 |
1-180885637-C-A | c.398C>A | p.S133Y | Missense | 2/9 | - | 3 |
1-180885641-C-T | c.402C>T | p.F134= | Synonymous | 2/9 | - | 1 |
1-180885642-C-T | c.403C>T | p.L135= | Synonymous | 2/9 | - | 1 |
1-180885644-G-A | c.405G>A | p.L135= | Synonymous | 2/9 | - | 1 |
1-180885644-G-C | c.405G>C | p.L135= | Synonymous | 2/9 | - | 1 |
1-180885644-G-T | c.405G>T | p.L135= | Synonymous | 2/9 | - | 1 |
1-180885650-T-A | c.411T>A | p.G137= | Synonymous | 2/9 | - | 1 |
1-180885651-G-A | c.412G>A | p.A138T | Missense | 2/9 | - | 1 |
1-180885655-T-C | c.416T>C | p.V139A | Missense | 2/9 | - | 1 |
1-180885655-TG-T | c.418del | p.V140Wfs*110 | Frameshift | 2/9 | - | 1 |
1-180885657-G-A | c.418G>A | p.V140M | Missense | 2/9 | - | 1 |
1-180885658-T-C | c.419T>C | p.V140A | Missense | 2/9 | - | 1 |
1-180885664-C-T | c.425C>T | p.P142L | Missense | 2/9 | - | 1 |
1-180885666-C-G | c.427C>G | p.R143G | Missense | 2/9 | - | 1 |
1-180885666-C-T | c.427C>T | p.R143C | Missense | 2/9 | - | 2 |
1-180885668-T-A | c.429T>A | p.R143= | Synonymous | 2/9 | - | 1 |
1-180885670-C-T | c.431C>T | p.T144I | Missense | 2/9 | - | 1 |
1-180885673-A-C | c.434A>C | p.Q145P | Missense | 2/9 | - | 2 |
1-180885679-T-G | c.440T>G | p.L147R | Missense | 2/9 | - | 1 |
1-180885680-G-T | c.441G>T | p.L147= | Synonymous | 2/9 | - | 1 |
1-180885681-C-T | c.442C>T | p.P148S | Missense | 2/9 | - | 1 |
1-180885693-C-T | c.454C>T | p.L152= | Synonymous | 2/9 | - | 1 |
1-180885695-G-A | c.456G>A | p.L152= | Synonymous | 2/9 | - | 1 |
1-180885695-G-C | c.456G>C | p.L152= | Synonymous | 2/9 | - | 1 |
1-180885695-G-T | c.456G>T | p.L152= | Synonymous | 2/9 | - | 1 |
1-180885698-C-A | c.459C>A | p.D153E | Missense | 2/9 | - | 1 |
1-180885698-C-G | c.459C>G | p.D153E | Missense | 2/9 | - | 1 |
1-180885699-G-A | c.460G>A | p.G154S | Missense | 2/9 | - | 2 |
1-180885710-T-C | c.471T>C | p.N157= | Synonymous | 2/9 | - | 1 |
1-180885711-G-A | c.472G>A | p.E158K | Missense | 2/9 | - | 2 |
1-180885713-G-A | c.474G>A | p.E158= | Synonymous | 2/9 | - | 1 |
1-180885722-C-A | c.483C>A | p.P161= | Synonymous | 2/9 | - | 2 |
1-180885722-C-G | c.483C>G | p.P161= | Synonymous | 2/9 | - | 2 |
1-180885722-C-T | c.483C>T | p.P161= | Synonymous | 2/9 | - | 2 |
1-180885723-G-A | c.484G>A | p.A162T | Missense | 2/9 | - | 2 |
1-180885723-G-T | c.484G>T | p.A162S | Missense | 2/9 | - | 1 |
1-180885726-A-T | c.487A>T | p.R163W | Missense | 2/9 | - | 1 |
1-180885728-G-T | c.489G>T | p.R163S | Missense | 2/9 | - | 1 |
1-180885732-G-A | c.493G>A | p.G165R | Missense | 2/9 | - | 2 |
1-180885732-G-C | c.493G>C | p.G165R | Missense | 2/9 | - | 1 |
1-180885735-G-T | c.496G>T | p.G166C | Missense | 2/9 | - | 1 |
1-180885736-GC-AG | c.497_498delinsAG | p.G166E | Missense | 2/9 | - | 1 |
1-180885739-C-T | c.500C>T | p.P167L | Missense | 2/9 | - | 1 |
1-180885741-AGG-TGT | c.502_504delinsTGT | p.R168C | Missense | 2/9 | - | 2 |
1-180885741-A-T | c.502A>T | p.R168W | Missense | 2/9 | - | 1 |
1-180885747-C-T | c.508C>T | p.P170S | Missense | 2/9 | - | 2 |
1-180885750-A-G | c.511A>G | p.R171G | Missense | 2/9 | - | 1 |
1-180885750-AGG-TGT | c.511_513delinsTGT | p.R171C | Missense | 2/9 | - | 1 |
1-180885750-A-T | c.511A>T | p.R171W | Missense | 2/9 | - | 1 |
1-180885754-C-T | c.515C>T | p.P172L | Missense | 2/9 | - | 1 |
1-180885755-G-A | c.516G>A | p.P172= | Synonymous | 2/9 | - | 1 |
1-180885755-G-C | c.516G>C | p.P172= | Synonymous | 2/9 | - | 1 |
1-180885755-G-T | c.516G>T | p.P172= | Synonymous | 2/9 | - | 1 |
1-180885756-C-T | c.517C>T | p.P173S | Missense | 2/9 | - | 1 |
1-180885764-T-A | c.525T>A | p.P175= | Synonymous | 2/9 | - | 1 |
1-180885764-T-C | c.525T>C | p.P175= | Synonymous | 2/9 | - | 1 |
1-180885764-T-G | c.525T>G | p.P175= | Synonymous | 2/9 | - | 1 |
1-180885768-C-T | c.529C>T | p.R177C | Missense | 2/9 | - | 1 |
1-180885771-G-A | c.532G>A | p.E178K | Missense | 2/9 | - | 1 |
1-180885773-G-T | c.534G>T | p.E178D | Missense | 2/9 | - | 1 |
1-180885778-G-GC | c.540dup | p.N181Qfs*16 | Frameshift | 2/9 | - | 1 |
1-180885781-A-T | c.542A>T | p.N181I | Missense | 2/9 | - | 1 |
1-180885782-C-G | c.543C>G | p.N181K | Missense | 2/9 | - | 1 |
1-180885789-A-G | c.550A>G | p.S184G | Missense | 2/9 | - | 1 |
1-180885789-AG-TT | c.550_551delinsTT | p.S184F | Missense | 2/9 | - | 1 |
1-180885792-C-T | c.553C>T | p.P185S | Missense | 2/9 | - | 2 |
1-180885793-C-T | c.554C>T | p.P185L | Missense | 2/9 | - | 7 |
1-180885798-C-A | c.559C>A | p.P187T | Missense | 2/9 | - | 4 |
1-180885798-C-T | c.559C>T | p.P187S | Missense | 2/9 | - | 1 |
1-180885800-T-A | c.561T>A | p.P187= | Synonymous | 2/9 | - | 1 |
1-180885800-T-C | c.561T>C | p.P187= | Synonymous | 2/9 | - | 1 |
1-180885800-T-G | c.561T>G | p.P187= | Synonymous | 2/9 | - | 1 |
1-180885804-G-A | c.565G>A | p.E189K | Missense | 2/9 | - | 1 |
1-180885808-C-T | c.569C>T | p.A190V | Missense | 2/9 | - | 1 |
1-180885810-G-A | c.571G>A | p.E191K | Missense | 2/9 | - | 2 |
1-180885819-C-T | c.580C>T | p.L194F | Missense | 2/9 | - | 1 |
1-180885821-T-A | c.582T>A | p.L194= | Synonymous | 2/9 | - | 2 |
1-180885821-T-C | c.582T>C | p.L194= | Synonymous | 2/9 | - | 2 |
1-180885821-T-G | c.582T>G | p.L194= | Synonymous | 2/9 | - | 2 |
1-180885822-C-T | c.583C>T | p.P195S | Missense | 2/9 | - | 1 |
1-180885825-G-A | c.586G>A | p.D196N | Missense | 2/9 | - | 2 |
1-180885825-G-T | c.586G>T | p.D196Y | Missense | 2/9 | - | 2 |
1-180885826-A-G | c.587A>G | p.D196G | Missense | 2/9 | - | 1 |
1-180885828-C-T | c.589C>T | p.H197Y | Missense | 2/9 | - | 3 |
1-180885831-G-A | c.592G>A | p.D198N | Missense | 2/9 | - | 1 |
1-180885834-AGA-TGG | c.595_597delinsTGG | p.R199W | Missense | 2/9 | - | 1 |
1-180885838-G-A | c.599G>A | p.G200D | Missense | 2/9 | - | 1 |
1-180885840-C-T | c.601C>T | p.P201S | Missense | 2/9 | - | 4 |
1-180885841-C-T | c.602C>T | p.P201L | Missense | 2/9 | - | 2 |
1-180885842-G-A | c.603G>A | p.P201= | Synonymous | 2/9 | - | 1 |
1-180885842-G-C | c.603G>C | p.P201= | Synonymous | 2/9 | - | 1 |
1-180885842-G-T | c.603G>T | p.P201= | Synonymous | 2/9 | - | 1 |
1-180885844-T-A | c.605T>A | p.L202Q | Missense | 2/9 | - | 1 |
1-180885845-G-A | c.606G>A | p.L202= | Synonymous | 2/9 | - | 2 |
1-180885846-C-T | c.607C>T | p.L203= | Synonymous | 2/9 | - | 2 |
1-180885848-G-A | c.609G>A | p.L203= | Synonymous | 2/9 | - | 2 |
1-180885848-G-C | c.609G>C | p.L203= | Synonymous | 2/9 | - | 2 |
1-180885848-G-T | c.609G>T | p.L203= | Synonymous | 2/9 | - | 2 |
1-180885849-G-T | c.610G>T | p.G204W | Missense | 2/9 | - | 2 |
1-180885847-TG-T | c.612del | p.S206Afs*44 | Frameshift | 2/9 | - | 1 |
1-180885852-C-G | c.613C>G | p.P205A | Missense | 2/9 | - | 3 |
1-180885853-C-A | c.614C>A | p.P205H | Missense | 2/9 | - | 1 |
1-180885859-C-T | c.620C>T | p.S207F | Missense | 2/9 | - | 4 |
1-180885862-T-A | c.623T>A | p.L208* | Nonsense | 2/9 | - | 1 |
1-180885863-G-A | c.624G>A | p.L208= | Synonymous | 2/9 | - | 1 |
1-180885863-G-C | c.624G>C | p.L208F | Missense | 2/9 | - | 1 |
1-180885863-G-T | c.624G>T | p.L208F | Missense | 2/9 | - | 1 |
1-180885874-C-T | c.635C>T | p.P212L | Missense | 2/9 | - | 1 |
1-180885878-C-G | c.639C>G | p.I213M | Missense | 2/9 | - | 1 |
1-180885879-C-G | c.640C>G | p.H214D | Missense | 2/9 | - | 1 |
1-180885879-C-T | c.640C>T | p.H214Y | Missense | 2/9 | - | 4 |
1-180885881-T-G | c.642T>G | p.H214Q | Missense | 2/9 | - | 1 |
1-180885884-A-C | c.645A>C | p.G215= | Synonymous | 2/9 | - | 1 |
1-180885884-A-G | c.645A>G | p.G215= | Synonymous | 2/9 | - | 1 |
1-180885884-A-T | c.645A>T | p.G215= | Synonymous | 2/9 | - | 1 |
1-180885888-A-G | c.649A>G | p.T217A | Missense | 2/9 | - | 2 |
1-180885891-C-G | c.652C>G | p.P218A | Missense | 2/9 | - | 1 |
1-180885893-C-T | c.654C>T | p.P218= | Synonymous | 2/9 | - | 1 |
1-180885894-G-A | c.655G>A | p.G219R | Missense | 2/9 | - | 2 |
1-180885897-C-T | c.658C>T | p.R220W | Missense | 2/9 | - | 1 |
1-180885898-G-A | c.659G>A | p.R220Q | Missense | 2/9 | - | 2 |
1-180885901-C-T | c.662C>T | p.P221L | Missense | 2/9 | - | 1 |
1-180885903-G-T | c.664G>T | p.G222W | Missense | 2/9 | - | 1 |
1-180885906-G-A | c.667G>A | p.G223S | Missense | 2/9 | - | 1 |
1-180885906-G-C | c.667G>C | p.G223R | Missense | 2/9 | - | 1 |
1-180885907-G-A | c.668G>A | p.G223D | Missense | 2/9 | - | 1 |
1-180885907-G-T | c.668G>T | p.G223V | Missense | 2/9 | - | 1 |
1-180885910-C-A | c.671C>A | p.P224H | Missense | 2/9 | - | 1 |
1-180885913-G-C | c.674G>C | p.G225A | Missense | 2/9 | - | 1 |
1-180885920-T-C | c.681T>C | p.C227= | Synonymous | 2/9 | - | 1 |
1-180885923-C-CA | c.688dup | p.I230Nfs*27 | Frameshift | 2/9 | - | 1 |
1-180885932-C-G | c.693C>G | p.I231M | Missense | 2/9 | - | 1 |
1-180885939-C-T | c.700C>T | p.P234S | Missense | 2/9 | - | 2 |
1-180885941-C-A | c.702C>A | p.P234= | Synonymous | 2/9 | - | 1 |
1-180885943-G-A | c.704G>A | p.S235N | Missense | 2/9 | - | 2 |
1-180885943-GCCCAAGGACAGGAAGGT-G | c.707_723del | p.P236Lfs*15 | Frameshift | 2/9 | - | 1 |
1-180885948-A-T | c.709A>T | p.R237W | Missense | 2/9 | - | 5 |
1-180885949-G-A | c.710G>A | p.R237K | Missense | 2/9 | - | 1 |
1-180885957-AG-CC | c.718_719delinsCC | p.R240P | Missense | 2/9 | - | 1 |
1-180885958-G-A | c.719G>A | p.R240K | Missense | 2/9 | - | 1 |
1-180885966-C-T | c.727C>T | p.P243S | Missense | 2/9 | - | 5 |
1-180885975-G-T | c.736G>T | p.D246Y | Missense | 2/9 | - | 2 |
1-180885978-G-C | c.739G>C | p.G247R | Missense | 2/9 | - | 1 |
1-180885979-G-C | c.740G>C | p.G247A | Missense | 2/9 | - | 1 |
1-180885980-C-A | c.741C>A | p.G247= | Synonymous | 2/9 | - | 3 |
1-180885980-C-G | c.741C>G | p.G247= | Synonymous | 2/9 | - | 3 |
1-180885980-C-T | c.741C>T | p.G247= | Synonymous | 2/9 | - | 5 |
1-180885981-G-A | c.742G>A | p.V248M | Missense | 2/9 | - | 1 |
1-180885990-G-T | c.751G>T | p.E251* | Nonsense | 2/9 | - | 1 |
1-180885999-C-G | c.760C>G | p.L254V | Missense | 2/9 | - | 1 |
1-180886002-G-C | c.763G>C | p.D255H | Missense | 2/9 | - | 1 |
1-180886004-T-A | c.765T>A | p.D255E | Missense | 2/9 | - | 1 |
1-180886004-T-G | c.765T>G | p.D255E | Missense | 2/9 | - | 1 |
1-180886006-G-T | c.767G>T | p.S256I | Missense | 2/9 | - | 1 |
1-180886014-C-A | c.775C>A | p.L259M | Missense | 2/9 | - | 5 |
1-180886022-C-A | c.783C>A | p.S261= | Synonymous | 2/9 | - | 1 |
1-180886022-C-G | c.783C>G | p.S261= | Synonymous | 2/9 | - | 1 |
1-180886022-C-T | c.783C>T | p.S261= | Synonymous | 2/9 | - | 2 |
1-180886023-G-A | c.784G>A | p.E262K | Missense | 2/9 | - | 3 |
1-180886028-G-A | c.789G>A | p.E263= | Synonymous | 2/9 | - | 1 |
1-180886031-C-A | c.792C>A | p.V264= | Synonymous | 2/9 | - | 3 |
1-180886031-C-G | c.792C>G | p.V264= | Synonymous | 2/9 | - | 2 |
1-180886031-C-T | c.792C>T | p.V264= | Synonymous | 2/9 | - | 2 |
1-180886038-C-T | c.799C>T | p.P267S | Missense | 2/9 | - | 1 |
1-180886039-C-A | c.800C>A | p.P267H | Missense | 2/9 | - | 2 |
1-180886039-C-T | c.800C>T | p.P267L | Missense | 2/9 | - | 9 |
1-180886045-C-A | c.806C>A | p.T269K | Missense | 2/9 | - | 1 |
1-180886045-C-T | c.806C>T | p.T269M | Missense | 2/9 | - | 6 |
1-180886049-C-T | c.810C>T | p.A270= | Synonymous | 2/9 | - | 1 |
1-180886050-CT-AA | c.811_812delinsAA | p.L271K | Missense | 2/9 | - | 3 |
1-180886053-C-T | c.814C>T | p.L272= | Synonymous | 2/9 | - | 3 |
1-180886055-G-A | c.816G>A | p.L272= | Synonymous | 2/9 | - | 3 |
1-180886055-G-C | c.816G>C | p.L272= | Synonymous | 2/9 | - | 3 |
1-180886055-G-T | c.816G>T | p.L272= | Synonymous | 2/9 | - | 4 |
1-180886056-G-T | c.817G>T | p.G273C | Missense | 2/9 | - | 1 |
1-180886057-G-A | c.818G>A | p.G273D | Missense | 2/9 | - | 4 |
1-180886062-C-A | c.823C>A | p.R275S | Missense | 2/9 | - | 1 |
1-180886062-C-T | c.823C>T | p.R275C | Missense | 2/9 | - | 1 |
1-180886063-G-A | c.824G>A | p.R275H | Missense | 2/9 | - | 4 |
1-180886065-T-G | c.826T>G | p.W276G | Missense | 2/9 | - | 1 |
1-180886069-G-C | c.830G>C | p.R277T | Missense | 2/9 | - | 1 |
1-180886072-C-T | c.833C>T | p.A278V | Missense | 2/9 | - | 1 |
1-180886074-G-A | c.835G>A | p.G279R | Missense | 2/9 | - | 1 |
1-180886077-G-C | c.838G>C | p.D280H | Missense | 2/9 | - | 1 |
1-180886079-C-A | c.840C>A | p.D280E | Missense | 2/9 | - | 1 |
1-180886080-C-T | c.841C>T | p.L281= | Synonymous | 2/9 | - | 1 |
1-180886082-G-A | c.843G>A | p.L281= | Synonymous | 2/9 | - | 1 |
1-180886082-G-C | c.843G>C | p.L281= | Synonymous | 2/9 | - | 1 |
1-180886082-G-T | c.843G>T | p.L281= | Synonymous | 2/9 | - | 1 |
1-180886083-G-A | c.844G>A | p.E282K | Missense | 2/9 | - | 2 |
1-180886086-G-A | c.847G>A | p.A283T | Missense | 2/9 | - | 2 |
1-180886092-G-C | c.853G>C | p.G285R | Missense | 2/9 | - | 1 |
1-180886093-G-T | c.854G>T | p.G285V | Missense | 2/9 | - | 2 |
1-180886094-C-T | c.855C>T | p.G285= | Synonymous | 2/9 | - | 1 |
1-180886095-G-A | c.856G>A | p.A286T | Missense | 2/9 | - | 1 |
1-180886097-T-A | c.858T>A | p.A286= | Synonymous | 2/9 | - | 1 |
1-180886097-T-C | c.858T>C | p.A286= | Synonymous | 2/9 | - | 1 |
1-180886097-T-G | c.858T>G | p.A286= | Synonymous | 2/9 | - | 1 |
1-180886098-G-T | c.859G>T | p.G287W | Missense | 2/9 | - | 1 |
1-180886115-C-T | c.876C>T | p.S292= | Synonymous | 2/9 | - | 3 |
1-180886118-G-T | c.879G>T | p.L293= | Synonymous | 2/9 | - | 1 |
1-180886125-C-T | c.886C>T | p.R296W | Missense | 2/9 | - | 3 |
1-180886126-G-A | c.887G>A | p.R296Q | Missense | 2/9 | - | 2 |
1-180886126-G-T | c.887G>T | p.R296L | Missense | 2/9 | - | 1 |
1-180886134-A-G | c.895A>G | p.R299G | Missense | 2/9 | - | 1 |
1-180886135-G-A | c.896G>A | p.R299K | Missense | 2/9 | - | 1 |
1-180886136-A-C | c.897A>C | p.R299S | Missense | 2/9 | - | 1 |
1-180886136-A-T | c.897A>T | p.R299S | Missense | 2/9 | - | 1 |
1-180886135-GA-G | c.899del | p.N300Tfs*65 | Frameshift | 2/9 | - | 1 |
1-180886140-C-A | c.901C>A | p.R301S | Missense | 2/9 | - | 7 |
1-180886140-C-T | c.901C>T | p.R301C | Missense | 2/9 | - | 14 |
1-180886141-CG-C | c.902del | p.R301Pfs*64 | Frameshift | 2/9 | - | 1 |
1-180886141-G-A | c.902G>A | p.R301H | Missense | 2/9 | - | 5 |
1-180886161-C-A | c.922C>A | p.L308I | Missense | 2/9 | - | 1 |
1-180886163-C-A | c.924C>A | p.L308= | Synonymous | 2/9 | - | 3 |
1-180886166-C-T | c.927C>T | p.N309= | Synonymous | 2/9 | - | 3 |
1-180886172-T-A | c.933T>A | p.S311= | Synonymous | 2/9 | - | 1 |
1-180886172-T-C | c.933T>C | p.S311= | Synonymous | 2/9 | - | 1 |
1-180886172-T-G | c.933T>G | p.S311= | Synonymous | 2/9 | - | 1 |
1-180886177-A-T | c.938A>T | p.Q313L | Missense | 2/9 | - | 1 |
1-180886181-C-T | c.942C>T | p.S314= | Synonymous | 2/9 | - | 1 |
1-180886185-C-T | c.946C>T | p.R316C | Missense | 2/9 | - | 1 |
1-180886186-G-A | c.947G>A | p.R316H | Missense | 2/9 | - | 4 |
1-180886191-GTG-ATC | c.952_954delinsATC | p.V318I | Missense | 2/9 | - | 1 |
1-180886196-A-C | c.957A>C | p.G319= | Synonymous | 2/9 | - | 1 |
1-180886196-A-G | c.957A>G | p.G319= | Synonymous | 2/9 | - | 1 |
1-180886196-A-T | c.957A>T | p.G319= | Synonymous | 2/9 | - | 1 |
1-180886199-C-G | c.960C>G | p.T320= | Synonymous | 2/9 | - | 1 |
1-180886199-C-T | c.960C>T | p.T320= | Synonymous | 2/9 | - | 3 |
1-180886200-C-A | c.961C>A | p.P321T | Missense | 2/9 | - | 1 |
1-180886210-CT-TG | c.971_972delinsTG | p.T324M | Missense | 2/9 | - | 1 |
1-180886210-C-CT | c.972dup | p.P325Sfs*45 | Frameshift | 2/9 | - | 1 |
1-180886212-C-T | c.973C>T | p.P325S | Missense | 2/9 | - | 2 |
1-180886214-A-C | c.975A>C | p.P325= | Synonymous | 2/9 | - | 1 |
1-180886214-A-G | c.975A>G | p.P325= | Synonymous | 2/9 | - | 1 |
1-180886214-A-T | c.975A>T | p.P325= | Synonymous | 2/9 | - | 1 |
1-180886216-C-T | c.977C>T | p.S326F | Missense | 2/9 | - | 5 |
1-180886217-C-A | c.978C>A | p.S326= | Synonymous | 2/9 | - | 1 |
1-180886217-C-G | c.978C>G | p.S326= | Synonymous | 2/9 | - | 1 |
1-180886217-C-T | c.978C>T | p.S326= | Synonymous | 2/9 | - | 1 |
1-180886231-C-T | c.992C>T | p.A331V | Missense | 2/9 | - | 1 |
1-180886231-GC-G | c.992del | p.A331Dfs*34 | Frameshift | 2/9 | - | 1 |
1-180886234-C-T | c.995C>T | p.P332L | Missense | 2/9 | - | 1 |
1-180886810-C-G | c.998-177C>G | - | IntronicSNV | - | 2/8 | 4 |
1-180886995-G-A | c.1006G>A | p.V336M | Missense | 3/9 | - | 1 |
1-180886995-G-C | c.1006G>C | p.V336L | Missense | 3/9 | - | 1 |
1-180886995-G-T | c.1006G>T | p.V336L | Missense | 3/9 | - | 1 |
1-180886995-GTG-ATC | c.1006_1008delinsATC | p.V336I | Missense | 3/9 | - | 1 |
1-180886998-G-C | c.1009G>C | p.G337R | Missense | 3/9 | - | 1 |
1-180886999-G-A | c.1010G>A | p.G337E | Missense | 3/9 | - | 1 |
1-180886999-G-T | c.1010G>T | p.G337V | Missense | 3/9 | - | 1 |
1-180887004-G-C | c.1015G>C | p.V339L | Missense | 3/9 | - | 2 |
1-180887004-G-T | c.1015G>T | p.V339L | Missense | 3/9 | - | 4 |
1-180887011-G-A | c.1022G>A | p.W341* | Nonsense | 3/9 | - | 1 |
1-180887018-G-A | c.1029G>A | p.S343= | Synonymous | 3/9 | - | 1 |
1-180887019-G-A | c.1030G>A | p.G344S | Missense | 3/9 | - | 1 |
1-180887033-G-T | c.1044G>T | p.Q348H | Missense | 3/9 | - | 1 |
1-180887034-G-A | c.1045G>A | p.D349N | Missense | 3/9 | - | 1 |
1-180887038-C-T | c.1049C>T | p.S350F | Missense | 3/9 | - | 1 |
1-180887039-C-T | c.1050C>T | p.S350= | Synonymous | 3/9 | - | 1 |
1-180887040-G-A | c.1051G>A | p.G351S | Missense | 3/9 | - | 1 |
1-180887042-C-T | c.1053C>T | p.G351= | Synonymous | 3/9 | - | 1 |
1-180887045-G-C | c.1056G>C | p.Q352H | Missense | 3/9 | - | 1 |
1-180887045-G-T | c.1056G>T | p.Q352H | Missense | 3/9 | - | 2 |
1-180887047-A-G | c.1058A>G | p.N353S | Missense | 3/9 | - | 2 |
1-180887289-G-A | c.1061+239G>A | - | IntronicSNV | - | 3/8 | 1 |
1-180887377-T-C | c.1061+327T>C | - | IntronicSNV | - | 3/8 | 1 |
1-180889857-G-GGC | c.1061+2809_1061+2810dup | - | IntronicInsertion | - | 3/8 | 1 |
1-180889919-G-A | c.1061+2869G>A | - | IntronicSNV | - | 3/8 | 1 |
1-180891493-G-A | c.1061+4443G>A | - | IntronicSNV | - | 3/8 | 1 |
1-180895157-A-T | c.1062-2409A>T | - | IntronicSNV | - | 3/8 | 1 |
1-180896902-A-G | c.1062-664A>G | - | IntronicSNV | - | 3/8 | 1 |
1-180897453-A-G | c.1062-113A>G | - | IntronicSNV | - | 3/8 | 1 |
1-180897521-C-T | c.1062-45C>T | - | IntronicSNV | - | 3/8 | 9 |
1-180897569-C-A | c.1065C>A | p.T355= | Synonymous | 4/9 | - | 1 |
1-180897569-C-G | c.1065C>G | p.T355= | Synonymous | 4/9 | - | 1 |
1-180897569-C-T | c.1065C>T | p.T355= | Synonymous | 4/9 | - | 15 |
1-180897573-G-C | c.1069G>C | p.G357R | Missense | 4/9 | - | 1 |
1-180897577-C-T | c.1073C>T | p.P358L | Missense | 4/9 | - | 1 |
1-180897580-A-G | c.1076A>G | p.N359S | Missense | 4/9 | - | 1 |
1-180897583-C-A | c.1079C>A | p.P360Q | Missense | 4/9 | - | 1 |
1-180897584-G-A | c.1080G>A | p.P360= | Synonymous | 4/9 | - | 3 |
1-180897584-G-C | c.1080G>C | p.P360= | Synonymous | 4/9 | - | 1 |
1-180897584-G-T | c.1080G>T | p.P360= | Synonymous | 4/9 | - | 1 |
1-180897585-G-A | c.1081G>A | p.E361K | Missense | 4/9 | - | 2 |
1-180897588-C-T | c.1084C>T | p.P362S | Missense | 4/9 | - | 1 |
1-180897600-C-A | c.1096C>A | p.P366T | Missense | 4/9 | - | 1 |
1-180897600-C-T | c.1096C>T | p.P366S | Missense | 4/9 | - | 1 |
1-180897601-C-T | c.1097C>T | p.P366L | Missense | 4/9 | - | 1 |
1-180897602-C-T | c.1098C>T | p.P366= | Synonymous | 4/9 | - | 2 |
1-180897609-G-T | c.1105G>T | p.E369* | Nonsense | 4/9 | - | 1 |
1-180897610-A-G | c.1106A>G | p.E369G | Missense | 4/9 | - | 2 |
1-180897611-G-C | c.1107G>C | p.E369D | Missense | 4/9 | - | 2 |
1-180897611-G-T | c.1107G>T | p.E369D | Missense | 4/9 | - | 2 |
1-180897633-C-T | c.1129C>T | p.R377C | Missense | 4/9 | - | 1 |
1-180897634-G-A | c.1130G>A | p.R377H | Missense | 4/9 | - | 9 |
1-180897634-GT-AA | c.1130_1131delinsAA | p.R377Q | Missense | 4/9 | - | 1 |
1-180897640-G-A | c.1136G>A | p.R379H | Missense | 4/9 | - | 3 |
1-180897642-A-G | c.1138A>G | p.M380V | Missense | 4/9 | - | 2 |
1-180897645-A-C | c.1141A>C | p.K381Q | Missense | 4/9 | - | 1 |
1-180897649-C-T | c.1145C>T | p.A382V | Missense | 4/9 | - | 1 |
1-180897651-AG-CT | c.1147_1148inv | p.R383L | Missense | 4/9 | - | 1 |
1-180897651-AGG-CAT | c.1147_1149delinsCAT | p.R383H | Missense | 4/9 | - | 1 |
1-180897655-C-T | c.1151C>T | p.T384I | Missense | 4/9 | - | 1 |
1-180897657-C-T | c.1153C>T | p.R385W | Missense | 4/9 | - | 1 |
1-180897658-G-A | c.1154G>A | p.R385Q | Missense | 4/9 | - | 3 |
1-180897663-CT-AG | c.1159_1160inv | p.L387S | Missense | 4/9 | - | 1 |
1-180897666-C-T | c.1162C>T | p.R388C | Missense | 4/9 | - | 3 |
1-180897667-G-A | c.1163G>A | p.R388H | Missense | 4/9 | - | 3 |
1-180897673-G-A | c.1169G>A | p.S390N | Missense | 4/9 | - | 1 |
1-180897674-C-T | c.1170C>T | p.S390= | Synonymous | 4/9 | - | 2 |
1-180897675-C-A | c.1171C>A | p.H391N | Missense | 4/9 | - | 3 |
1-180897676-A-T | c.1172A>T | p.H391L | Missense | 4/9 | - | 4 |
1-180897683-C-T | c.1179C>T | p.I393= | Synonymous | 4/9 | - | 4 |
1-180897697-CC-TG | c.1193_1194delinsTG | p.T398M | Missense | 4/9 | - | 1 |
1-180897698-C-A | c.1194C>A | p.T398= | Synonymous | 4/9 | - | 1 |
1-180897698-C-G | c.1194C>G | p.T398= | Synonymous | 4/9 | - | 1 |
1-180897698-C-T | c.1194C>T | p.T398= | Synonymous | 4/9 | - | 1 |
1-180897702-G-C | c.1198G>C | p.G400R | Missense | 4/9 | - | 1 |
1-180897703-G-T | c.1199G>T | p.G400V | Missense | 4/9 | - | 1 |
1-180897709-G-A | c.1205G>A | p.R402Q | Missense | 4/9 | - | 1 |
1-180897792-ATGC-A | c.1205+94_1205+96del | - | IntronicDeletion | - | 4/8 | 2 |
1-180900168-A-AGG | c.1205+2461_1205+2462dup | - | IntronicInsertion | - | 4/8 | 1 |
1-180904257-C-A | c.1212C>A | p.G404= | Synonymous | 5/9 | - | 1 |
1-180904257-C-G | c.1212C>G | p.G404= | Synonymous | 5/9 | - | 1 |
1-180904257-C-T | c.1212C>T | p.G404= | Synonymous | 5/9 | - | 1 |
1-180904258-C-T | c.1213C>T | p.H405Y | Missense | 5/9 | - | 1 |
1-180904268-C-T | c.1223C>T | p.P408L | Missense | 5/9 | - | 1 |
1-180904271-C-G | c.1226C>G | p.A409G | Missense | 5/9 | - | 1 |
1-180904273-C-T | c.1228C>T | p.R410W | Missense | 5/9 | - | 2 |
1-180904274-G-T | c.1229G>T | p.R410L | Missense | 5/9 | - | 2 |
1-180904283-G-C | c.1238G>C | p.R413T | Missense | 5/9 | - | 1 |
1-180904289-C-T | c.1244C>T | p.T415I | Missense | 5/9 | - | 1 |
1-180904291-CC-TT | c.1246_1247delinsTT | p.P416F | Missense | 5/9 | - | 1 |
1-180904294-G-A | c.1249G>A | p.A417T | Missense | 5/9 | - | 1 |
1-180904298-G-A | c.1253G>A | p.C418Y | Missense | 5/9 | - | 1 |
1-180904303-G-A | c.1258G>A | p.D420N | Missense | 5/9 | - | 2 |
1-180904303-G-T | c.1258G>T | p.D420Y | Missense | 5/9 | - | 1 |
1-180904306-A-T | c.1261A>T | p.S421C | Missense | 5/9 | - | 1 |
1-180904309-C-T | c.1264C>T | p.L422F | Missense | 5/9 | - | 3 |
1-180904312-C-T | c.1267C>T | p.Q423* | Nonsense | 5/9 | - | 1 |
1-180904317-C-T | c.1272C>T | p.N424= | Synonymous | 5/9 | - | 1 |
1-180904325-C-T | c.1280C>T | p.T427M | Missense | 5/9 | - | 1 |
1-180904334-C-A | c.1289C>A | p.S430Y | Missense | 5/9 | - | 1 |
1-180904337-C-T | c.1292C>T | p.S431F | Missense | 5/9 | - | 3 |
1-180904338-C-T | c.1293C>T | p.S431= | Synonymous | 5/9 | - | 1 |
1-180904343-G-A | c.1298G>A | p.G433E | Missense | 5/9 | - | 1 |
1-180904343-G-T | c.1298G>T | p.G433V | Missense | 5/9 | - | 1 |
1-180904344-A-G | c.1299A>G | p.G433= | Synonymous | 5/9 | - | 1 |
1-180904348-T-G | c.1303T>G | p.S435A | Missense | 5/9 | - | 1 |
1-180904349-C-A | c.1304C>A | p.S435Y | Missense | 5/9 | - | 1 |
1-180904353-C-T | c.1308C>T | p.S436= | Synonymous | 5/9 | - | 1 |
1-180904356-T-A | c.1311T>A | p.G437= | Synonymous | 5/9 | - | 1 |
1-180904356-T-C | c.1311T>C | p.G437= | Synonymous | 5/9 | - | 1 |
1-180904356-T-G | c.1311T>G | p.G437= | Synonymous | 5/9 | - | 1 |
1-180904362-C-T | c.1317C>T | p.H439= | Synonymous | 5/9 | - | 1 |
1-180904365-G-T | c.1320G>T | p.R440S | Missense | 5/9 | - | 1 |
1-180904367-C-T | c.1322C>T | p.P441L | Missense | 5/9 | - | 4 |
1-180904373-G-A | c.1328G>A | p.R443Q | Missense | 5/9 | - | 1 |
1-180904378-C-A | c.1333C>A | p.P445T | Missense | 5/9 | - | 1 |
1-180904383-G-A | c.1338G>A | p.S446= | Synonymous | 5/9 | - | 1 |
1-180904383-G-C | c.1338G>C | p.S446= | Synonymous | 5/9 | - | 1 |
1-180904383-G-T | c.1338G>T | p.S446= | Synonymous | 5/9 | - | 1 |
1-180904386-G-A | c.1341G>A | p.P447= | Synonymous | 5/9 | - | 1 |
1-180904388-C-T | c.1343C>T | p.S448L | Missense | 5/9 | - | 3 |
1-180904389-G-A | c.1344G>A | p.S448= | Synonymous | 5/9 | - | 1 |
1-180904396-C-A | c.1351C>A | p.R451S | Missense | 5/9 | - | 2 |
1-180904396-C-T | c.1351C>T | p.R451C | Missense | 5/9 | - | 1 |
1-180904402-G-C | c.1357G>C | p.E453Q | Missense | 5/9 | - | 1 |
1-180904408-G-A | c.1363G>A | p.E455K | Missense | 5/9 | - | 1 |
1-180904412-C-T | c.1367C>T | p.S456F | Missense | 5/9 | - | 3 |
1-180904413-C-T | c.1368C>T | p.S456= | Synonymous | 5/9 | - | 1 |
1-180904415-C-G | c.1370C>G | p.A457G | Missense | 5/9 | - | 1 |
1-180904418-G-A | c.1373G>A | p.R458H | Missense | 5/9 | - | 5 |
1-180904420-G-A | c.1375G>A | p.E459K | Missense | 5/9 | - | 1 |
1-180904421-A-G | c.1376A>G | p.E459G | Missense | 5/9 | - | 1 |
1-180904425-C-T | c.1380C>T | p.A460= | Synonymous | 5/9 | - | 1 |
1-180904426-G-C | c.1381G>C | p.E461Q | Missense | 5/9 | - | 1 |
1-180904431-C-A | c.1386C>A | p.F462L | Missense | 5/9 | - | 1 |
1-180904431-C-T | c.1386C>T | p.F462= | Synonymous | 5/9 | - | 2 |
1-180904432-C-T | c.1387C>T | p.R463C | Missense | 5/9 | - | 4 |
1-180904433-G-A | c.1388G>A | p.R463H | Missense | 5/9 | - | 3 |
1-180904437-C-G | c.1392C>G | p.H464Q | Missense | 5/9 | - | 1 |
1-180904444-C-A | c.1399C>A | p.R467= | Synonymous | 5/9 | - | 1 |
1-180904444-CGG-TGT | c.1399_1401delinsTGT | p.R467C | Missense | 5/9 | - | 1 |
1-180904444-C-T | c.1399C>T | p.R467W | Missense | 5/9 | - | 1 |
1-180904446-G-A | c.1401G>A | p.R467= | Synonymous | 5/9 | - | 1 |
1-180904446-G-C | c.1401G>C | p.R467= | Synonymous | 5/9 | - | 1 |
1-180904446-G-T | c.1401G>T | p.R467= | Synonymous | 5/9 | - | 1 |
1-180904445-G-A | c.1400G>A | p.R467Q | Missense | 5/9 | - | 1 |
1-180904445-G-T | c.1400G>T | p.R467L | Missense | 5/9 | - | 1 |
1-180904447-C-T | c.1402C>T | p.L468= | Synonymous | 5/9 | - | 2 |
1-180904449-G-A | c.1404G>A | p.L468= | Synonymous | 5/9 | - | 1 |
1-180904449-G-C | c.1404G>C | p.L468= | Synonymous | 5/9 | - | 1 |
1-180904449-G-T | c.1404G>T | p.L468= | Synonymous | 5/9 | - | 1 |
1-180904461-G-C | c.1416G>C | p.Q472H | Missense | 5/9 | - | 1 |
1-180904461-G-T | c.1416G>T | p.Q472H | Missense | 5/9 | - | 1 |
1-180904462-C-T | c.1417C>T | p.R473C | Missense | 5/9 | - | 4 |
1-180904469-T-A | c.1424T>A | p.V475E | Missense | 5/9 | - | 2 |
1-180904474-AGC-TGA | c.1429_1431delinsTGA | p.S477* | Nonsense | 5/9 | - | 1 |
1-180904480-G-A | c.1435G>A | p.V479M | Missense | 5/9 | - | 1 |
1-180904491-C-A | c.1446C>A | p.A482= | Synonymous | 5/9 | - | 2 |
1-180904491-C-G | c.1446C>G | p.A482= | Synonymous | 5/9 | - | 2 |
1-180904491-C-T | c.1446C>T | p.A482= | Synonymous | 5/9 | - | 2 |
1-180904493-C-T | c.1448C>T | p.A483V | Missense | 5/9 | - | 1 |
1-180904494-G-A | c.1449G>A | p.A483= | Synonymous | 5/9 | - | 1 |
1-180904494-G-C | c.1449G>C | p.A483= | Synonymous | 5/9 | - | 1 |
1-180904494-G-T | c.1449G>T | p.A483= | Synonymous | 5/9 | - | 1 |
1-180904495-G-C | c.1450G>C | p.D484H | Missense | 5/9 | - | 1 |
1-180904506-C-A | c.1461C>A | p.P487= | Synonymous | 5/9 | - | 1 |
1-180904506-C-G | c.1461C>G | p.P487= | Synonymous | 5/9 | - | 1 |
1-180904506-C-T | c.1461C>T | p.P487= | Synonymous | 5/9 | - | 1 |
1-180904507-C-G | c.1462C>G | p.L488V | Missense | 5/9 | - | 1 |
1-180904507-C-T | c.1462C>T | p.L488= | Synonymous | 5/9 | - | 2 |
1-180904509-G-A | c.1464G>A | p.L488= | Synonymous | 5/9 | - | 2 |
1-180904509-G-C | c.1464G>C | p.L488= | Synonymous | 5/9 | - | 2 |
1-180904509-G-T | c.1464G>T | p.L488= | Synonymous | 5/9 | - | 2 |
1-180904510-C-A | c.1465C>A | p.R489S | Missense | 5/9 | - | 1 |
1-180904511-GC-AA | c.1466_1467delinsAA | p.R489Q | Missense | 5/9 | - | 1 |
1-180904514-C-T | c.1469C>T | p.S490F | Missense | 5/9 | - | 1 |
1-180904518-G-T | c.1473G>T | p.K491N | Missense | 5/9 | - | 1 |
1-180904521-C-A | c.1476C>A | p.P492= | Synonymous | 5/9 | - | 1 |
1-180904521-C-G | c.1476C>G | p.P492= | Synonymous | 5/9 | - | 1 |
1-180904521-C-T | c.1476C>T | p.P492= | Synonymous | 5/9 | - | 1 |
1-180904527-C-A | c.1482C>A | p.L494= | Synonymous | 5/9 | - | 2 |
1-180904527-C-G | c.1482C>G | p.L494= | Synonymous | 5/9 | - | 2 |
1-180904527-C-T | c.1482C>T | p.L494= | Synonymous | 5/9 | - | 2 |
1-180904528-G-A | c.1483G>A | p.A495T | Missense | 5/9 | - | 1 |
1-180904530-C-A | c.1485C>A | p.A495= | Synonymous | 5/9 | - | 1 |
1-180904530-C-G | c.1485C>G | p.A495= | Synonymous | 5/9 | - | 1 |
1-180904530-C-T | c.1485C>T | p.A495= | Synonymous | 5/9 | - | 1 |
1-180904531-G-A | c.1486G>A | p.D496N | Missense | 5/9 | - | 1 |
1-180904532-A-C | c.1487A>C | p.D496A | Missense | 5/9 | - | 1 |
1-180904538-T-C | c.1493T>C | p.I498T | Missense | 5/9 | - | 1 |
1-180904543-G-A | c.1498G>A | p.G500R | Missense | 5/9 | - | 1 |
1-180904543-G-C | c.1498G>C | p.G500R | Missense | 5/9 | - | 1 |
1-180904549-C-A | c.1504C>A | p.P502T | Missense | 5/9 | - | 1 |
1-180904553-G-A | c.1508G>A | p.R503Q | Missense | 5/9 | - | 2 |
1-180904557-C-T | c.1512C>T | p.L504= | Synonymous | 5/9 | - | 1 |
1-180904558-C-T | c.1513C>T | p.R505W | Missense | 5/9 | - | 1 |
1-180904561-G-A | c.1516G>A | p.D506N | Missense | 5/9 | - | 1 |
1-180904585-AG-CA | c.1540_1541delinsCA | p.R514Q | Missense | 5/9 | - | 1 |
1-180904594-G-A | c.1549G>A | p.G517S | Missense | 5/9 | - | 1 |
1-180904606-C-T | c.1561C>T | p.R521C | Missense | 5/9 | - | 1 |
1-180904607-G-A | c.1562G>A | p.R521H | Missense | 5/9 | - | 2 |
1-180904610-G-A | c.1565G>A | p.R522K | Missense | 5/9 | - | 1 |
1-180904617-C-A | c.1572C>A | p.H524Q | Missense | 5/9 | - | 1 |
1-180904617-C-G | c.1572C>G | p.H524Q | Missense | 5/9 | - | 1 |
1-180904622-C-T | c.1577C>T | p.A526V | Missense | 5/9 | - | 1 |
1-180904623-A-C | c.1578A>C | p.A526= | Synonymous | 5/9 | - | 1 |
1-180904625-C-T | c.1580C>T | p.P527L | Missense | 5/9 | - | 2 |
1-180904629-G-A | c.1584G>A | p.P528= | Synonymous | 5/9 | - | 1 |
1-180904633-C-G | c.1588C>G | p.P530A | Missense | 5/9 | - | 1 |
1-180904634-CG-AT | c.1589_1590delinsAT | p.P530H | Missense | 5/9 | - | 1 |
1-180904643-A-G | c.1598A>G | p.E533G | Missense | 5/9 | - | 1 |
1-180904658-C-T | c.1613C>T | p.A538V | Missense | 5/9 | - | 1 |
1-180904664-G-C | c.1619G>C | p.G540A | Missense | 5/9 | - | 1 |
1-180904664-G-T | c.1619G>T | p.G540V | Missense | 5/9 | - | 1 |
1-180904668-C-T | c.1623C>T | p.S541= | Synonymous | 5/9 | - | 1 |
1-180904669-TG-AC | c.1624_1625delinsAC | p.C542T | Missense | 5/9 | - | 1 |
1-180904672-A-T | c.1627A>T | p.I543F | Missense | 5/9 | - | 1 |
1-180904674-C-G | c.1629C>G | p.I543M | Missense | 5/9 | - | 2 |
1-180904675-G-A | c.1630G>A | p.D544N | Missense | 5/9 | - | 2 |
1-180904677-C-T | c.1632C>T | p.D544= | Synonymous | 5/9 | - | 1 |
1-180904678-G-A | c.1633G>A | p.D545N | Missense | 5/9 | - | 2 |
1-180904678-G-C | c.1633G>C | p.D545H | Missense | 5/9 | - | 1 |
1-180904684-C-T | c.1639C>T | p.R547C | Missense | 5/9 | - | 1 |
1-180904687-C-T | c.1642C>T | p.P548S | Missense | 5/9 | - | 1 |
1-180904688-C-A | c.1643C>A | p.P548H | Missense | 5/9 | - | 2 |
1-180904690-G-A | c.1645G>A | p.A549T | Missense | 5/9 | - | 1 |
1-180904697-G-A | c.1652G>A | p.G551E | Missense | 5/9 | - | 4 |
1-180904701-G-A | c.1656G>A | p.K552= | Synonymous | 5/9 | - | 2 |
1-180904706-C-T | c.1661C>T | p.P554L | Missense | 5/9 | - | 1 |
1-180904707-C-A | c.1662C>A | p.P554= | Synonymous | 5/9 | - | 2 |
1-180904707-C-G | c.1662C>G | p.P554= | Synonymous | 5/9 | - | 2 |
1-180904707-C-T | c.1662C>T | p.P554= | Synonymous | 5/9 | - | 2 |
1-180904709-C-T | c.1664C>T | p.P555L | Missense | 5/9 | - | 1 |
1-180904704-G-GC | c.1665dup | p.V556Rfs*64 | Frameshift | 5/9 | - | 1 |
1-180904711-G-A | c.1666G>A | p.V556I | Missense | 5/9 | - | 1 |
1-180904716-C-T | c.1671C>T | p.P557= | Synonymous | 5/9 | - | 2 |
1-180904718-G-A | c.1673G>A | p.R558K | Missense | 5/9 | - | 1 |
1-180904718-G-T | c.1673G>T | p.R558M | Missense | 5/9 | - | 1 |
1-180904717-A-C | c.1672A>C | p.R558= | Synonymous | 5/9 | - | 1 |
1-180904719-G-A | c.1674G>A | p.R558= | Synonymous | 5/9 | - | 1 |
1-180904727-A-C | c.1682A>C | p.Q561P | Missense | 5/9 | - | 1 |
1-180904728-G-A | c.1683G>A | p.Q561= | Synonymous | 5/9 | - | 1 |
1-180904732-C-T | c.1687C>T | p.L563F | Missense | 5/9 | - | 1 |
1-180904736-A-C | c.1691A>C | p.Q564P | Missense | 5/9 | - | 1 |
1-180904736-A-T | c.1691A>T | p.Q564L | Missense | 5/9 | - | 2 |
1-180904750-A-C | c.1705A>C | p.M569L | Missense | 5/9 | - | 1 |
1-180904758-G-C | c.1713G>C | p.R571S | Missense | 5/9 | - | 2 |
1-180904758-G-T | c.1713G>T | p.R571S | Missense | 5/9 | - | 3 |
1-180904759-G-C | c.1714G>C | p.V572L | Missense | 5/9 | - | 1 |
1-180904759-G-T | c.1714G>T | p.V572L | Missense | 5/9 | - | 1 |
1-180904769-G-A | c.1724G>A | p.G575D | Missense | 5/9 | - | 1 |
1-180904771-C-T | c.1726C>T | p.L576= | Synonymous | 5/9 | - | 3 |
1-180904776-C-T | c.1731C>T | p.S577= | Synonymous | 5/9 | - | 1 |
1-180904777-T-G | c.1732T>G | p.S578A | Missense | 5/9 | - | 1 |
1-180904779-C-A | c.1734C>A | p.S578= | Synonymous | 5/9 | - | 1 |
1-180904779-C-G | c.1734C>G | p.S578= | Synonymous | 5/9 | - | 1 |
1-180904779-C-T | c.1734C>T | p.S578= | Synonymous | 5/9 | - | 1 |
1-180904786-CGG-TGT | c.1741_1743delinsTGT | p.R581C | Missense | 5/9 | - | 1 |
1-180904786-CG-TA | c.1741_1742delinsTA | p.R581* | Nonsense | 5/9 | - | 1 |
1-180904787-G-A | c.1742G>A | p.R581Q | Missense | 5/9 | - | 1 |
1-180904795-C-G | c.1750C>G | p.P584A | Missense | 5/9 | - | 1 |
1-180904801-G-A | c.1756G>A | p.E586K | Missense | 5/9 | - | 3 |
1-180904806-C-A | c.1761C>A | p.P587= | Synonymous | 5/9 | - | 1 |
1-180904806-C-G | c.1761C>G | p.P587= | Synonymous | 5/9 | - | 1 |
1-180904806-C-T | c.1761C>T | p.P587= | Synonymous | 5/9 | - | 1 |
1-180904808-G-T | c.1763G>T | p.R588L | Missense | 5/9 | - | 1 |
1-180904810-C-T | c.1765C>T | p.L589F | Missense | 5/9 | - | 1 |
1-180904811-T-A | c.1766T>A | p.L589H | Missense | 5/9 | - | 1 |
1-180904816-A-G | c.1771A>G | p.M591V | Missense | 5/9 | - | 4 |
1-180904820-A-C | c.1775A>C | p.E592A | Missense | 5/9 | - | 3 |
1-180904828-C-T | c.1783C>T | p.R595W | Missense | 5/9 | - | 1 |
1-180904829-G-A | c.1784G>A | p.R595Q | Missense | 5/9 | - | 2 |
1-180904833-A-G | c.1788A>G | p.E596= | Synonymous | 5/9 | - | 1 |
1-180904835-C-T | c.1790C>T | p.T597I | Missense | 5/9 | - | 3 |
1-180904849-A-G | c.1804A>G | p.T602A | Missense | 5/9 | - | 1 |
1-180904852-G-C | c.1807G>C | p.V603L | Missense | 5/9 | - | 2 |
1-180904852-G-T | c.1807G>T | p.V603L | Missense | 5/9 | - | 3 |
1-180904861-G-A | c.1816G>A | p.A606T | Missense | 5/9 | - | 2 |
1-180904862-CG-AC | c.1817_1818delinsAC | p.A606D | Missense | 5/9 | - | 1 |
1-180904862-C-T | c.1817C>T | p.A606V | Missense | 5/9 | - | 1 |
1-180904863-G-A | c.1818G>A | p.A606= | Synonymous | 5/9 | - | 2 |
1-180904863-G-C | c.1818G>C | p.A606= | Synonymous | 5/9 | - | 1 |
1-180904863-G-T | c.1818G>T | p.A606= | Synonymous | 5/9 | - | 1 |
1-180904865-A-G | c.1820A>G | p.E607G | Missense | 5/9 | - | 1 |
1-180904869-G-A | c.1824G>A | p.V608= | Synonymous | 5/9 | - | 1 |
1-180904874-C-G | c.1829C>G | p.S610C | Missense | 5/9 | - | 3 |
1-180904878-C-A | c.1833C>A | p.A611= | Synonymous | 5/9 | - | 1 |
1-180904878-C-G | c.1833C>G | p.A611= | Synonymous | 5/9 | - | 1 |
1-180904878-C-T | c.1833C>T | p.A611= | Synonymous | 5/9 | - | 2 |
1-180904879-C-A | c.1834C>A | p.L612M | Missense | 5/9 | - | 3 |
1-180904879-C-T | c.1834C>T | p.L612= | Synonymous | 5/9 | - | 1 |
1-180904891-G-A | c.1846G>A | p.D616N | Missense | 5/9 | - | 3 |
1-180904906-T-C | c.1861T>C | p.C621R | Missense | 5/9 | - | 1 |
1-180904909-AG-CA | c.1864_1865delinsCA | p.R622Q | Missense | 5/9 | - | 1 |
1-180904915-G-A | c.1870G>A | p.D624N | Missense | 5/9 | - | 2 |
1-180904921-G-A | c.1876G>A | p.E626K | Missense | 5/9 | - | 1 |
1-180904924-G-A | c.1879G>A | p.E627K | Missense | 5/9 | - | 1 |
1-180904928-C-A | c.1883C>A | p.A628E | Missense | 5/9 | - | 1 |
1-180904928-C-T | c.1883C>T | p.A628V | Missense | 5/9 | - | 1 |
1-180904929-G-A | c.1884G>A | p.A628= | Synonymous | 5/9 | - | 1 |
1-180904930-G-A | c.1885G>A | p.G629R | Missense | 5/9 | - | 1 |
1-180904930-G-C | c.1885G>C | p.G629R | Missense | 5/9 | - | 1 |
1-180904939-C-T | c.1894C>T | p.Q632* | Nonsense | 5/9 | - | 2 |
1-180904940-A-G | c.1895A>G | p.Q632R | Missense | 5/9 | - | 1 |
1-180904942-G-A | c.1897G>A | p.A633T | Missense | 5/9 | - | 1 |
1-180904947-C-A | c.1902C>A | p.G634= | Synonymous | 5/9 | - | 1 |
1-180904951-G-A | c.1906G>A | p.A636T | Missense | 5/9 | - | 5 |
1-180904953-G-C | c.1908G>C | p.A636= | Synonymous | 5/9 | - | 2 |
1-180904960-C-T | c.1915C>T | p.R639W | Missense | 5/9 | - | 1 |
1-180904968-A-C | c.1923A>C | p.Q641H | Missense | 5/9 | - | 1 |
1-180904968-A-T | c.1923A>T | p.Q641H | Missense | 5/9 | - | 1 |
1-180904969-G-A | c.1924G>A | p.G642S | Missense | 5/9 | - | 1 |
1-180904978-C-T | c.1933C>T | p.P645S | Missense | 5/9 | - | 2 |
1-180904980-G-A | c.1935G>A | p.P645= | Synonymous | 5/9 | - | 1 |
1-180904982-G-A | c.1937G>A | p.R646Q | Missense | 5/9 | - | 1 |
1-180904984-C-T | c.1939C>T | p.L647= | Synonymous | 5/9 | - | 1 |
1-180904986-G-A | c.1941G>A | p.L647= | Synonymous | 5/9 | - | 1 |
1-180904986-G-C | c.1941G>C | p.L647= | Synonymous | 5/9 | - | 1 |
1-180904986-G-T | c.1941G>T | p.L647= | Synonymous | 5/9 | - | 1 |
1-180904988-G-A | c.1943G>A | p.R648Q | Missense | 5/9 | - | 1 |
1-180904993-C-T | c.1948C>T | p.R650W | Missense | 5/9 | - | 1 |
1-180904997-G-C | c.1952G>C | p.G651A | Missense | 5/9 | - | 1 |
1-180904999-T-C | c.1954T>C | p.S652P | Missense | 5/9 | - | 1 |
1-180905001-C-A | c.1956C>A | p.S652= | Synonymous | 5/9 | - | 1 |
1-180905001-C-G | c.1956C>G | p.S652= | Synonymous | 5/9 | - | 1 |
1-180905001-C-T | c.1956C>T | p.S652= | Synonymous | 5/9 | - | 1 |
1-180905003-G-C | c.1958G>C | p.R653T | Missense | 5/9 | - | 1 |
1-180905013-C-A | c.1968C>A | p.G656= | Synonymous | 5/9 | - | 1 |
1-180905013-C-G | c.1968C>G | p.G656= | Synonymous | 5/9 | - | 1 |
1-180905013-C-T | c.1968C>T | p.G656= | Synonymous | 5/9 | - | 2 |
1-180905014-C-T | c.1969C>T | p.H657Y | Missense | 5/9 | - | 5 |
1-180905017-A-G | c.1972A>G | p.R658G | Missense | 5/9 | - | 1 |
1-180905025-C-T | c.1980C>T | p.S660= | Synonymous | 5/9 | - | 1 |
1-180905028-G-A | c.1983G>A | p.K661= | Synonymous | 5/9 | - | 1 |
1-180905033-C-T | c.1988C>T | p.A663V | Missense | 5/9 | - | 1 |
1-180905035-G-A | c.1990G>A | p.E664K | Missense | 5/9 | - | 1 |
1-180905035-G-C | c.1990G>C | p.E664Q | Missense | 5/9 | - | 3 |
1-180905039-C-T | c.1994C>T | p.A665V | Missense | 5/9 | - | 1 |
1-180905040-G-A | c.1995G>A | p.A665= | Synonymous | 5/9 | - | 2 |
1-180905051-G-A | c.2006G>A | p.W669* | Nonsense | 5/9 | - | 1 |
1-180905052-G-A | c.2007G>A | p.W669* | Nonsense | 5/9 | - | 1 |
1-180905054-G-A | c.2009G>A | p.G670D | Missense | 5/9 | - | 1 |
1-180905054-G-T | c.2009G>T | p.G670V | Missense | 5/9 | - | 1 |
1-180905059-C-T | c.2014C>T | p.Q672* | Nonsense | 5/9 | - | 1 |
1-180905061-G-A | c.2016G>A | p.Q672= | Synonymous | 5/9 | - | 1 |
1-180905066-A-G | c.2021A>G | p.Q674R | Missense | 5/9 | - | 2 |
1-180905067-G-T | c.2022G>T | p.Q674H | Missense | 5/9 | - | 1 |
1-180905068-C-A | c.2023C>A | p.Q675K | Missense | 5/9 | - | 1 |
1-180905077-C-A | c.2032C>A | p.P678T | Missense | 5/9 | - | 1 |
1-180905077-C-T | c.2032C>T | p.P678S | Missense | 5/9 | - | 1 |
1-180905083-G-A | c.2038G>A | p.A680T | Missense | 5/9 | - | 1 |
1-180905095-G-C | c.2050G>C | p.E684Q | Missense | 5/9 | - | 1 |
1-180905101-GA-G | c.2060del | p.N687Mfs*3 | Frameshift | 5/9 | - | 1 |
1-180905109-G-T | c.2064G>T | p.E688D | Missense | 5/9 | - | 1 |
1-180905120-G-C | c.2075G>C | p.G692A | Missense | 5/9 | - | 1 |
1-180905125-G-T | c.2080G>T | p.G694* | Nonsense | 5/9 | - | 1 |
1-180905128-C-T | c.2083C>T | p.H695Y | Missense | 5/9 | - | 1 |
1-180905132-C-T | c.2087C>T | p.T696M | Missense | 5/9 | - | 1 |
1-180905133-GCCTGAAGGAA-G | c.2090_2099del | p.P697Lfs*4 | Frameshift | 5/9 | - | 1 |
1-180905146-C-T | c.2101C>T | p.L701= | Synonymous | 5/9 | - | 3 |
1-180905148-A-C | c.2103A>C | p.L701= | Synonymous | 5/9 | - | 1 |
1-180905148-A-G | c.2103A>G | p.L701= | Synonymous | 5/9 | - | 1 |
1-180905148-A-T | c.2103A>T | p.L701= | Synonymous | 5/9 | - | 1 |
1-180905158-G-A | c.2113G>A | p.E705K | Missense | 5/9 | - | 1 |
1-180905161-G-A | c.2116G>A | p.D706N | Missense | 5/9 | - | 1 |
1-180905163-T-C | c.2118T>C | p.D706= | Synonymous | 5/9 | - | 1 |
1-180905164-G-A | c.2119G>A | p.A707T | Missense | 5/9 | - | 2 |
1-180905171-C-A | c.2126C>A | p.P709H | Missense | 5/9 | - | 1 |
1-180905176-G-A | c.2131G>A | p.D711N | Missense | 5/9 | - | 1 |
1-180905182-G-A | c.2137G>A | p.E713K | Missense | 5/9 | - | 2 |
1-180905192-G-A | c.2147G>A | p.R716Q | Missense | 5/9 | - | 1 |
1-180905207-C-T | c.2162C>T | p.P721L | Missense | 5/9 | - | 1 |
1-180905209-C-T | c.2164C>T | p.Q722* | Nonsense | 5/9 | - | 2 |
1-180905216-A-G | c.2171A>G | p.Q724R | Missense | 5/9 | - | 1 |
1-180905221-G-T | c.2176G>T | p.G726* | Nonsense | 5/9 | - | 1 |
1-180905224-C-A | c.2179C>A | p.P727T | Missense | 5/9 | - | 2 |
1-180905224-C-T | c.2179C>T | p.P727S | Missense | 5/9 | - | 1 |
1-180905232-G-A | c.2187G>A | p.L729= | Synonymous | 5/9 | - | 1 |
1-180905233-G-A | c.2188G>A | p.G730R | Missense | 5/9 | - | 1 |
1-180905233-G-C | c.2188G>C | p.G730R | Missense | 5/9 | - | 1 |
1-180905239-C-A | c.2194C>A | p.H732N | Missense | 5/9 | - | 1 |
1-180905242-C-T | c.2197C>T | p.Q733* | Nonsense | 5/9 | - | 1 |
1-180905257-G-A | c.2212G>A | p.D738N | Missense | 5/9 | - | 1 |
1-180905263-C-G | c.2218C>G | p.R740G | Missense | 5/9 | - | 3 |
1-180905263-C-T | c.2218C>T | p.R740W | Missense | 5/9 | - | 11 |
1-180905272-TG-AC | c.2227_2228delinsAC | p.C743T | Missense | 5/9 | - | 1 |
1-180905278-A-AG | c.2233_2234insG | p.T745Sfs*12 | Frameshift | 5/9 | - | 1 |
1-180905278-A-G | c.2233A>G | p.T745A | Missense | 5/9 | - | 1 |
1-180905280-A-C | c.2235A>C | p.T745= | Synonymous | 5/9 | - | 1 |
1-180905280-A-G | c.2235A>G | p.T745= | Synonymous | 5/9 | - | 1 |
1-180905280-A-T | c.2235A>T | p.T745= | Synonymous | 5/9 | - | 1 |
1-180905282-C-A | c.2237C>A | p.A746D | Missense | 5/9 | - | 1 |
1-180905288-C-T | c.2243C>T | p.A748V | Missense | 5/9 | - | 1 |
1-180905292-C-A | c.2247C>A | p.T749= | Synonymous | 5/9 | - | 1 |
1-180905292-C-G | c.2247C>G | p.T749= | Synonymous | 5/9 | - | 1 |
1-180905292-C-T | c.2247C>T | p.T749= | Synonymous | 5/9 | - | 1 |
1-180905294-C-T | c.2249C>T | p.T750I | Missense | 5/9 | - | 7 |
1-180905300-C-T | c.2255C>T | p.P752L | Missense | 5/9 | - | 3 |
1-180905307-G-A | c.2262G>A | p.T754= | Synonymous | 5/9 | - | 1 |
1-180905307-G-C | c.2262G>C | p.T754= | Synonymous | 5/9 | - | 1 |
1-180905307-G-T | c.2262G>T | p.T754= | Synonymous | 5/9 | - | 1 |
1-180905311-G-A | c.2266G>A | p.E756K | Missense | 5/9 | - | 1 |
1-180905315-C-A | c.2270C>A | p.S757* | Nonsense | 5/9 | - | 1 |
1-180905315-C-G | c.2270C>G | p.S757* | Nonsense | 5/9 | - | 1 |
1-180905318-C-T | c.2273C>T | p.S758L | Missense | 5/9 | - | 1 |
1-180905319-G-A | c.2274G>A | p.S758= | Synonymous | 5/9 | - | 3 |
1-180905321-G-A | c.2276G>A | p.G759E | Missense | 5/9 | - | 1 |
1-180905328-A-T | c.2283A>T | p.G761= | Synonymous | 5/9 | - | 1 |
1-180905330-G-C | c.2285G>C | p.G762A | Missense | 5/9 | - | 1 |
1-180905352-C-T | c.2307C>T | p.S769= | Synonymous | 5/9 | - | 14 |
1-180905355-AC-A | c.2310del | p.H770Qfs*231 | Frameshift | 5/9 | - | 1 |
1-180905360-C-T | c.2315C>T | p.S772F | Missense | 5/9 | - | 2 |
1-180905361-C-T | c.2316C>T | p.S772= | Synonymous | 5/9 | - | 1 |
1-180905365-G-A | c.2320G>A | p.E774K | Missense | 5/9 | - | 2 |
1-180905367-A-C | c.2322A>C | p.E774D | Missense | 5/9 | - | 1 |
1-180905367-A-T | c.2322A>T | p.E774D | Missense | 5/9 | - | 1 |
1-180905375-C-G | c.2330C>G | p.S777C | Missense | 5/9 | - | 1 |
1-180905382-C-T | c.2337C>T | p.S779= | Synonymous | 5/9 | - | 1 |
1-180905396-G-C | c.2351G>C | p.S784T | Missense | 5/9 | - | 1 |
1-180905397-C-T | c.2352C>T | p.S784= | Synonymous | 5/9 | - | 1 |
1-180905399-A-G | c.2354A>G | p.H785R | Missense | 5/9 | - | 1 |
1-180905406-G-A | c.2361G>A | p.E787= | Synonymous | 5/9 | - | 1 |
1-180905413-G-C | c.2368G>C | p.A790P | Missense | 5/9 | - | 1 |
1-180905415-C-A | c.2370C>A | p.A790= | Synonymous | 5/9 | - | 1 |
1-180905423-A-C | c.2378A>C | p.Q793P | Missense | 5/9 | - | 2 |
1-180905425-G-A | c.2380G>A | p.A794T | Missense | 5/9 | - | 1 |
1-180905427-C-A | c.2382C>A | p.A794= | Synonymous | 5/9 | - | 1 |
1-180905431-C-T | c.2386C>T | p.Q796* | Nonsense | 5/9 | - | 1 |
1-180905437-A-G | c.2392A>G | p.T798A | Missense | 5/9 | - | 2 |
1-180905432-AGCCAACAGCTTCCTTGTGTCCTGAAGGCTGGGC-A | c.2394_2426del | p.A799_T809del | InFrameDeletion | 5/9 | - | 1 |
1-180905442-T-A | c.2397T>A | p.A799= | Synonymous | 5/9 | - | 1 |
1-180905442-T-C | c.2397T>C | p.A799= | Synonymous | 5/9 | - | 1 |
1-180905442-T-G | c.2397T>G | p.A799= | Synonymous | 5/9 | - | 1 |
1-180905446-T-A | c.2401T>A | p.L801M | Missense | 5/9 | - | 1 |
1-180905446-T-C | c.2401T>C | p.L801= | Synonymous | 5/9 | - | 2 |
1-180905448-G-A | c.2403G>A | p.L801= | Synonymous | 5/9 | - | 2 |
1-180905448-G-C | c.2403G>C | p.L801F | Missense | 5/9 | - | 3 |
1-180905448-G-T | c.2403G>T | p.L801F | Missense | 5/9 | - | 26 |
1-180905451-T-G | c.2406T>G | p.C802W | Missense | 5/9 | - | 1 |
1-180905458-G-T | c.2413G>T | p.G805C | Missense | 5/9 | - | 1 |
1-180905462-G-C | c.2417G>C | p.W806S | Missense | 5/9 | - | 3 |
1-180905464-G-A | c.2419G>A | p.A807T | Missense | 5/9 | - | 1 |
1-180905465-C-T | c.2420C>T | p.A807V | Missense | 5/9 | - | 3 |
1-180905470-A-C | c.2425A>C | p.T809P | Missense | 5/9 | - | 1 |
1-180905471-C-A | c.2426C>A | p.T809N | Missense | 5/9 | - | 7 |
1-180905473-C-T | c.2428C>T | p.P810S | Missense | 5/9 | - | 4 |
1-180905476-C-A | c.2431C>A | p.P811T | Missense | 5/9 | - | 2 |
1-180905478-C-T | c.2433C>T | p.P811= | Synonymous | 5/9 | - | 1 |
1-180905475-TC-T | c.2435del | p.P812Lfs*189 | Frameshift | 5/9 | - | 1 |
1-180905480-C-A | c.2435C>A | p.P812H | Missense | 5/9 | - | 1 |
1-180905483-C-T | c.2438C>T | p.S813L | Missense | 5/9 | - | 2 |
1-180905498-C-T | c.2453C>T | p.S818L | Missense | 5/9 | - | 1 |
1-180905503-G-C | c.2458G>C | p.V820L | Missense | 5/9 | - | 2 |
1-180905503-G-T | c.2458G>T | p.V820L | Missense | 5/9 | - | 2 |
1-180905527-G-C | c.2482G>C | p.A828P | Missense | 5/9 | - | 1 |
1-180905532-A-G | c.2487A>G | p.G829= | Synonymous | 5/9 | - | 1 |
1-180905533-C-G | c.2488C>G | p.L830V | Missense | 5/9 | - | 1 |
1-180905539-A-G | c.2494A>G | p.R832G | Missense | 5/9 | - | 1 |
1-180905550-C-A | c.2505C>A | p.D835E | Missense | 5/9 | - | 2 |
1-180905559-G-C | c.2514G>C | p.E838D | Missense | 5/9 | - | 1 |
1-180905559-G-T | c.2514G>T | p.E838D | Missense | 5/9 | - | 1 |
1-180905564-T-C | c.2519T>C | p.V840A | Missense | 5/9 | - | 1 |
1-180905566-G-T | c.2521G>T | p.G841C | Missense | 5/9 | - | 1 |
1-180905572-C-T | c.2527C>T | p.P843S | Missense | 5/9 | - | 5 |
1-180905575-C-A | c.2530C>A | p.R844= | Synonymous | 5/9 | - | 1 |
1-180905575-C-T | c.2530C>T | p.R844W | Missense | 5/9 | - | 4 |
1-180905577-G-A | c.2532G>A | p.R844= | Synonymous | 5/9 | - | 1 |
1-180905577-G-C | c.2532G>C | p.R844= | Synonymous | 5/9 | - | 1 |
1-180905577-G-T | c.2532G>T | p.R844= | Synonymous | 5/9 | - | 1 |
1-180905581-C-T | c.2536C>T | p.P846S | Missense | 5/9 | - | 3 |
1-180905587-AGA-CAT | c.2542_2544delinsCAT | p.R848H | Missense | 5/9 | - | 1 |
1-180905588-G-A | c.2543G>A | p.R848K | Missense | 5/9 | - | 4 |
1-180905587-A-C | c.2542A>C | p.R848= | Synonymous | 5/9 | - | 1 |
1-180905589-A-G | c.2544A>G | p.R848= | Synonymous | 5/9 | - | 1 |
1-180905594-C-T | c.2549C>T | p.A850V | Missense | 5/9 | - | 2 |
1-180905596-G-A | c.2551G>A | p.V851I | Missense | 5/9 | - | 1 |
1-180905597-T-C | c.2552T>C | p.V851A | Missense | 5/9 | - | 1 |
1-180905601-C-G | c.2556C>G | p.L852= | Synonymous | 5/9 | - | 1 |
1-180905602-AG-TA | c.2557_2558delinsTA | p.R853* | Nonsense | 5/9 | - | 1 |
1-180905607-C-A | c.2562C>A | p.T854= | Synonymous | 5/9 | - | 2 |
1-180905618-C-T | c.2573C>T | p.P858L | Missense | 5/9 | - | 1 |
1-180905621-C-A | c.2576C>A | p.P859Q | Missense | 5/9 | - | 1 |
1-180905625-A-G | c.2580A>G | p.S860= | Synonymous | 5/9 | - | 1 |
1-180905640-C-T | c.2595C>T | p.S865= | Synonymous | 5/9 | - | 4 |
1-180905662-C-T | c.2617C>T | p.L873= | Synonymous | 5/9 | - | 1 |
1-180905680-A-C | c.2635A>C | p.N879H | Missense | 5/9 | - | 1 |
1-180905683-A-G | c.2638A>G | p.N880D | Missense | 5/9 | - | 2 |
1-180905686-T-G | c.2641T>G | p.C881G | Missense | 5/9 | - | 1 |
1-180905694-C-T | c.2649C>T | p.N883= | Synonymous | 5/9 | - | 16 |
1-180905695-AG-CT | c.2650_2651inv | p.S884L | Missense | 5/9 | - | 1 |
1-180905697-C-T | c.2652C>T | p.S884= | Synonymous | 5/9 | - | 1 |
1-180905700-A-G | c.2655A>G | p.A885= | Synonymous | 5/9 | - | 1 |
1-180905701-C-A | c.2656C>A | p.P886T | Missense | 5/9 | - | 1 |
1-180905701-C-T | c.2656C>T | p.P886S | Missense | 5/9 | - | 2 |
1-180905702-C-T | c.2657C>T | p.P886L | Missense | 5/9 | - | 1 |
1-180905704-C-A | c.2659C>A | p.R887= | Synonymous | 5/9 | - | 1 |
1-180905706-G-A | c.2661G>A | p.R887= | Synonymous | 5/9 | - | 1 |
1-180905706-G-C | c.2661G>C | p.R887= | Synonymous | 5/9 | - | 1 |
1-180905706-G-T | c.2661G>T | p.R887= | Synonymous | 5/9 | - | 1 |
1-180905705-G-A | c.2660G>A | p.R887Q | Missense | 5/9 | - | 1 |
1-180905709-G-A | c.2664G>A | p.G888= | Synonymous | 5/9 | - | 2 |
1-180905709-G-C | c.2664G>C | p.G888= | Synonymous | 5/9 | - | 2 |
1-180905709-G-T | c.2664G>T | p.G888= | Synonymous | 5/9 | - | 3 |
1-180905711-T-C | c.2666T>C | p.L889P | Missense | 5/9 | - | 1 |
1-180905723-A-G | c.2678A>G | p.Y893C | Missense | 5/9 | - | 1 |
1-180905725-G-A | c.2680G>A | p.G894R | Missense | 5/9 | - | 3 |
1-180905726-G-A | c.2681G>A | p.G894E | Missense | 5/9 | - | 1 |
1-180905727-G-A | c.2682G>A | p.G894= | Synonymous | 5/9 | - | 1 |
1-180905734-G-C | c.2689G>C | p.V897L | Missense | 5/9 | - | 1 |
1-180905734-GTC-ATG | c.2689_2691delinsATG | p.V897M | Missense | 5/9 | - | 1 |
1-180905739-C-T | c.2694C>T | p.H898= | Synonymous | 5/9 | - | 1 |
1-180905746-AGG-CAT | c.2701_2703delinsCAT | p.R901H | Missense | 5/9 | - | 1 |
1-180905746-AGG-TGT | c.2701_2703delinsTGT | p.R901C | Missense | 5/9 | - | 1 |
1-180905748-G-A | c.2703G>A | p.R901= | Synonymous | 5/9 | - | 1 |
1-180905755-A-C | c.2710A>C | p.R904= | Synonymous | 5/9 | - | 1 |
1-180905757-G-A | c.2712G>A | p.R904= | Synonymous | 5/9 | - | 1 |
1-180905758-G-C | c.2713G>C | p.G905R | Missense | 5/9 | - | 1 |
1-180905764-T-C | c.2719T>C | p.C907R | Missense | 5/9 | - | 1 |
1-180905766-C-A | c.2721C>A | p.C907* | Nonsense | 5/9 | - | 1 |
1-180905767-A-G | c.2722A>G | p.S908G | Missense | 5/9 | - | 2 |
1-180905771-G-A | c.2726G>A | p.R909Q | Missense | 5/9 | - | 1 |
1-180905771-G-T | c.2726G>T | p.R909L | Missense | 5/9 | - | 1 |
1-180905775-A-C | c.2730A>C | p.E910D | Missense | 5/9 | - | 1 |
1-180905783-C-T | c.2738C>T | p.P913L | Missense | 5/9 | - | 1 |
1-180905784-G-A | c.2739G>A | p.P913= | Synonymous | 5/9 | - | 3 |
1-180905784-G-C | c.2739G>C | p.P913= | Synonymous | 5/9 | - | 1 |
1-180905784-G-T | c.2739G>T | p.P913= | Synonymous | 5/9 | - | 1 |
1-180905785-C-A | c.2740C>A | p.P914T | Missense | 5/9 | - | 1 |
1-180905787-C-A | c.2742C>A | p.P914= | Synonymous | 5/9 | - | 1 |
1-180905787-C-G | c.2742C>G | p.P914= | Synonymous | 5/9 | - | 1 |
1-180905787-C-T | c.2742C>T | p.P914= | Synonymous | 5/9 | - | 1 |
1-180905788-C-T | c.2743C>T | p.L915= | Synonymous | 5/9 | - | 1 |
1-180905790-G-A | c.2745G>A | p.L915= | Synonymous | 5/9 | - | 1 |
1-180905790-G-C | c.2745G>C | p.L915= | Synonymous | 5/9 | - | 1 |
1-180905790-G-T | c.2745G>T | p.L915= | Synonymous | 5/9 | - | 1 |
1-180905791-G-A | c.2746G>A | p.E916K | Missense | 5/9 | - | 1 |
1-180905797-A-C | c.2752A>C | p.S918R | Missense | 5/9 | - | 1 |
1-180905799-C-A | c.2754C>A | p.S918R | Missense | 5/9 | - | 1 |
1-180905799-C-G | c.2754C>G | p.S918R | Missense | 5/9 | - | 1 |
1-180905799-C-T | c.2754C>T | p.S918= | Synonymous | 5/9 | - | 1 |
1-180905801-G-C | c.2756G>C | p.R919T | Missense | 5/9 | - | 1 |
1-180905805-T-A | c.2760T>A | p.D920E | Missense | 5/9 | - | 1 |
1-180905806-G-T | c.2761G>T | p.G921* | Nonsense | 5/9 | - | 1 |
1-180905841-G-A | c.2761+35G>A | - | IntronicSNV | - | 5/8 | 1 |
1-180907696-C-T | c.2767C>T | p.P923S | Missense | 6/9 | - | 1 |
1-180907699-C-T | c.2770C>T | p.Q924* | Nonsense | 6/9 | - | 1 |
1-180907703-G-A | c.2774G>A | p.G925D | Missense | 6/9 | - | 1 |
1-180907717-G-A | c.2788G>A | p.A930T | Missense | 6/9 | - | 1 |
1-180907718-C-A | c.2789C>A | p.A930E | Missense | 6/9 | - | 1 |
1-180907724-T-C | c.2795T>C | p.V932A | Missense | 6/9 | - | 1 |
1-180907726-G-A | c.2797G>A | p.A933T | Missense | 6/9 | - | 1 |
1-180907733-T-C | c.2804T>C | p.I935T | Missense | 6/9 | - | 1 |
1-180907742-C-A | c.2813C>A | p.T938K | Missense | 6/9 | - | 1 |
1-180907742-C-T | c.2813C>T | p.T938M | Missense | 6/9 | - | 2 |
1-180907750-A-G | c.2821A>G | p.T941A | Missense | 6/9 | - | 1 |
1-180907753-C-A | c.2824C>A | p.L942I | Missense | 6/9 | - | 1 |
1-180907757-C-A | c.2828C>A | p.S943Y | Missense | 6/9 | - | 1 |
1-180907757-C-T | c.2828C>T | p.S943F | Missense | 6/9 | - | 2 |
1-180907775-C-A | c.2846C>A | p.S949* | Nonsense | 6/9 | - | 1 |
1-180907775-C-G | c.2846C>G | p.S949* | Nonsense | 6/9 | - | 1 |
1-180907788-G-C | c.2859G>C | p.K953N | Missense | 6/9 | - | 2 |
1-180907788-G-T | c.2859G>T | p.K953N | Missense | 6/9 | - | 2 |
1-180907795-G-C | c.2866G>C | p.E956Q | Missense | 6/9 | - | 1 |
1-180907811-G-A | c.2882G>A | p.R961K | Missense | 6/9 | - | 1 |
1-180907814-C-T | c.2885C>T | p.T962I | Missense | 6/9 | - | 1 |
1-180907821-A-C | c.2892A>C | p.S964= | Synonymous | 6/9 | - | 1 |
1-180907821-A-G | c.2892A>G | p.S964= | Synonymous | 6/9 | - | 1 |
1-180907821-A-T | c.2892A>T | p.S964= | Synonymous | 6/9 | - | 1 |
1-180907822-G-A | c.2893G>A | p.G965R | Missense | 6/9 | - | 2 |
1-180907822-G-C | c.2893G>C | p.G965R | Missense | 6/9 | - | 1 |
1-180907822-GG-CA | c.2893_2894delinsCA | p.G965Q | Missense | 6/9 | - | 2 |
1-180907823-G-A | c.2894G>A | p.G965E | Missense | 6/9 | - | 1 |
1-180907826-C-T | c.2897C>T | p.S966F | Missense | 6/9 | - | 1 |
1-180907833-A-G | c.2904A>G | p.G968= | Synonymous | 6/9 | - | 1 |
1-180907837-G-A | c.2908G>A | p.V970M | Missense | 6/9 | - | 2 |
1-180907841-T-A | c.2912T>A | p.L971Q | Missense | 6/9 | - | 1 |
1-180907840-C-T | c.2911C>T | p.L971= | Synonymous | 6/9 | - | 1 |
1-180907842-G-A | c.2913G>A | p.L971= | Synonymous | 6/9 | - | 1 |
1-180907842-G-C | c.2913G>C | p.L971= | Synonymous | 6/9 | - | 1 |
1-180907842-G-T | c.2913G>T | p.L971= | Synonymous | 6/9 | - | 1 |
1-180907844-C-T | c.2915C>T | p.S972L | Missense | 6/9 | - | 1 |
1-180910146-T-C | c.2919-35T>C | - | IntronicSNV | - | 6/8 | 1 |
1-180910180-G-C | c.2919-1G>C | - | IntronicSNV | - | 6/8 | 1 |
1-180910189-C-T | c.2927C>T | p.A976V | Missense | 7/9 | - | 1 |
1-180910191-G-A | c.2929G>A | p.G977R | Missense | 7/9 | - | 3 |
1-180910191-G-C | c.2929G>C | p.G977R | Missense | 7/9 | - | 2 |
1-180910200-A-G | c.2938A>G | p.T980A | Missense | 7/9 | - | 3 |
1-180910204-G-C | c.2942G>C | p.G981A | Missense | 7/9 | - | 1 |
1-180910207-C-G | c.2945C>G | p.P982R | Missense | 7/9 | - | 1 |
1-180910216-C-A | c.2954C>A | p.P985H | Missense | 7/9 | - | 1 |
1-180910212-TC-T | c.2955del | p.S986Rfs*15 | Frameshift | 7/9 | - | 1 |
1-180910218-T-C | c.2956T>C | p.S986P | Missense | 7/9 | - | 1 |
1-180910219-C-A | c.2957C>A | p.S986* | Nonsense | 7/9 | - | 1 |
1-180910219-C-T | c.2957C>T | p.S986L | Missense | 7/9 | - | 1 |
1-180910222-C-T | c.2960C>T | p.A987V | Missense | 7/9 | - | 1 |
1-180910227-C-A | c.2965C>A | p.P989T | Missense | 7/9 | - | 1 |
1-180910232-G-T | c.2970G>T | p.L990F | Missense | 7/9 | - | 1 |
1-180910235-C-A | c.2973C>A | p.D991E | Missense | 7/9 | - | 1 |
1-180910235-C-G | c.2973C>G | p.D991E | Missense | 7/9 | - | 1 |
1-180910242-A-G | c.2980A>G | p.K994E | Missense | 7/9 | - | 3 |
1-180910270-C-T | c.3008C>T | p.T1003I | Missense | 7/9 | - | 1 |
1-180910269-A-AC | c.3010dup | p.L1004Pfs*170 | Frameshift | 7/9 | - | 1 |
1-180910275-G-T | c.3013G>T | p.G1005W | Missense | 7/9 | - | 1 |
1-180910278-C-T | c.3016C>T | p.L1006= | Synonymous | 7/9 | - | 3 |
1-180910279-T-TG | c.3018dup | p.K1007Efs*167 | Frameshift | 7/9 | - | 1 |
1-180910280-G-A | c.3018G>A | p.L1006= | Synonymous | 7/9 | - | 3 |
1-180910280-G-C | c.3018G>C | p.L1006= | Synonymous | 7/9 | - | 4 |
1-180910280-G-T | c.3018G>T | p.L1006= | Synonymous | 7/9 | - | 3 |
1-180910290-T-A | c.3028T>A | p.F1010I | Missense | 7/9 | - | 5 |
1-180910290-T-C | c.3028T>C | p.F1010L | Missense | 7/9 | - | 2 |
1-180910292-C-A | c.3030C>A | p.F1010L | Missense | 7/9 | - | 2 |
1-180910292-C-G | c.3030C>G | p.F1010L | Missense | 7/9 | - | 2 |
1-180910302-G-A | c.3040G>A | p.G1014S | Missense | 7/9 | - | 2 |
1-180910303-G-A | c.3041G>A | p.G1014D | Missense | 7/9 | - | 1 |
1-180910319-C-A | c.3057C>A | p.P1019= | Synonymous | 7/9 | - | 1 |
1-180910327-G-A | c.3065G>A | p.G1022D | Missense | 7/9 | - | 1 |
1-180910328-C-A | c.3066C>A | p.G1022= | Synonymous | 7/9 | - | 1 |
1-180910328-C-G | c.3066C>G | p.G1022= | Synonymous | 7/9 | - | 1 |
1-180910328-C-T | c.3066C>T | p.G1022= | Synonymous | 7/9 | - | 1 |
1-180910330-A-C | c.3068A>C | p.K1023T | Missense | 7/9 | - | 1 |
1-180910330-A-T | c.3068A>T | p.K1023M | Missense | 7/9 | - | 1 |
1-180910331-G-C | c.3069G>C | p.K1023N | Missense | 7/9 | - | 1 |
1-180910336-G-A | c.3074G>A | p.R1025H | Missense | 7/9 | - | 1 |
1-180910340-C-T | c.3078C>T | p.S1026= | Synonymous | 7/9 | - | 1 |
1-180910342-A-G | c.3080A>G | p.Y1027C | Missense | 7/9 | - | 3 |
1-180910348-T-C | c.3086T>C | p.V1029A | Missense | 7/9 | - | 1 |
1-180910361-G-A | c.3099G>A | p.Q1033= | Synonymous | 7/9 | - | 1 |
1-180910363-C-T | c.3101C>T | p.P1034L | Missense | 7/9 | - | 2 |
1-180910364-C-A | c.3102C>A | p.P1034= | Synonymous | 7/9 | - | 1 |
1-180910364-C-G | c.3102C>G | p.P1034= | Synonymous | 7/9 | - | 1 |
1-180910364-C-T | c.3102C>T | p.P1034= | Synonymous | 7/9 | - | 2 |
1-180910365-G-A | c.3103G>A | p.A1035T | Missense | 7/9 | - | 1 |
1-180910369-C-T | c.3107C>T | p.P1036L | Missense | 7/9 | - | 3 |
1-180910370-G-A | c.3108G>A | p.P1036= | Synonymous | 7/9 | - | 1 |
1-180910371-C-T | c.3109C>T | p.P1037S | Missense | 7/9 | - | 4 |
1-180910375-G-T | c.3113G>T | p.G1038V | Missense | 7/9 | - | 2 |
1-180910379-G-C | c.3117G>C | p.L1039= | Synonymous | 7/9 | - | 1 |
1-180910382-G-A | c.3120G>A | p.T1040= | Synonymous | 7/9 | - | 1 |
1-180910391-C-CA | c.3130dup | p.R1044Kfs*130 | Frameshift | 7/9 | - | 1 |
1-180910393-G-T | c.3131G>T | p.R1044M | Missense | 7/9 | - | 1 |
1-180910394-G-T | c.3132G>T | p.R1044S | Missense | 7/9 | - | 1 |
1-180910395-G-C | c.3133G>C | p.A1045P | Missense | 7/9 | - | 1 |
1-180910396-C-G | c.3134C>G | p.A1045G | Missense | 7/9 | - | 1 |
1-180910397-C-A | c.3135C>A | p.A1045= | Synonymous | 7/9 | - | 3 |
1-180910397-C-G | c.3135C>G | p.A1045= | Synonymous | 7/9 | - | 1 |
1-180910397-C-T | c.3135C>T | p.A1045= | Synonymous | 7/9 | - | 1 |
1-180910398-C-T | c.3136C>T | p.P1046S | Missense | 7/9 | - | 1 |
1-180910401-TC-AG | c.3139_3140delinsAG | p.S1047R | Missense | 7/9 | - | 1 |
1-180910411-C-A | c.3149C>A | p.S1050Y | Missense | 7/9 | - | 1 |
1-180910413-C-G | c.3151C>G | p.L1051V | Missense | 7/9 | - | 3 |
1-180910414-T-C | c.3152T>C | p.L1051P | Missense | 7/9 | - | 1 |
1-180910416-C-A | c.3154C>A | p.H1052N | Missense | 7/9 | - | 1 |
1-180910417-A-T | c.3155A>T | p.H1052L | Missense | 7/9 | - | 2 |
1-180910419-C-A | c.3157C>A | p.P1053T | Missense | 7/9 | - | 1 |
1-180910420-C-A | c.3158C>A | p.P1053Q | Missense | 7/9 | - | 2 |
1-180910420-C-T | c.3158C>T | p.P1053L | Missense | 7/9 | - | 3 |
1-180911213-G-C | c.3159+792G>C | - | IntronicSNV | - | 7/8 | 1 |
1-180911215-T-C | c.3159+794T>C | - | IntronicSNV | - | 7/8 | 1 |
1-180913194-A-G | c.3160-331A>G | - | IntronicSNV | - | 7/8 | 1 |
1-180913194-A-T | c.3160-331A>T | - | IntronicSNV | - | 7/8 | 1 |
1-180913445-G-A | c.3160-80G>A | - | IntronicSNV | - | 7/8 | 1 |
1-180913529-C-T | c.3164C>T | p.S1055L | Missense | 8/9 | - | 1 |
1-180913531-C-A | c.3166C>A | p.P1056T | Missense | 8/9 | - | 2 |
1-180913533-C-A | c.3168C>A | p.P1056= | Synonymous | 8/9 | - | 1 |
1-180913537-C-T | c.3172C>T | p.H1058Y | Missense | 8/9 | - | 5 |
1-180913540-C-T | c.3175C>T | p.Q1059* | Nonsense | 8/9 | - | 5 |
1-180913542-G-A | c.3177G>A | p.Q1059= | Synonymous | 8/9 | - | 1 |
1-180913544-G-A | c.3179G>A | p.R1060H | Missense | 8/9 | - | 1 |
1-180913546-C-A | c.3181C>A | p.R1061= | Synonymous | 8/9 | - | 1 |
1-180913546-C-G | c.3181C>G | p.R1061G | Missense | 8/9 | - | 1 |
1-180913546-C-T | c.3181C>T | p.R1061W | Missense | 8/9 | - | 1 |
1-180913548-G-C | c.3183G>C | p.R1061= | Synonymous | 8/9 | - | 1 |
1-180913548-G-T | c.3183G>T | p.R1061= | Synonymous | 8/9 | - | 1 |
1-180913547-G-A | c.3182G>A | p.R1061Q | Missense | 8/9 | - | 3 |
1-180913547-G-T | c.3182G>T | p.R1061L | Missense | 8/9 | - | 7 |
1-180913548-G-A | c.3183G>A | p.R1061= | Synonymous | 8/9 | - | 3 |
1-180913558-T-G | c.3193T>G | p.S1065A | Missense | 8/9 | - | 1 |
1-180913579-C-A | c.3214C>A | p.L1072M | Missense | 8/9 | - | 1 |
1-180913579-CTG-TTT | c.3214_3216delinsTTT | p.L1072F | Missense | 8/9 | - | 1 |
1-180913582-C-A | c.3217C>A | p.L1073M | Missense | 8/9 | - | 1 |
1-180913590-C-T | c.3225C>T | p.S1075= | Synonymous | 8/9 | - | 1 |
1-180913593-G-T | c.3228G>T | p.K1076N | Missense | 8/9 | - | 1 |
1-180913597-A-C | c.3232A>C | p.N1078H | Missense | 8/9 | - | 1 |
1-180913597-A-G | c.3232A>G | p.N1078D | Missense | 8/9 | - | 34 |
1-180913597-A-T | c.3232A>T | p.N1078Y | Missense | 8/9 | - | 1 |
1-180913600-C-T | c.3235C>T | p.R1079W | Missense | 8/9 | - | 6 |
1-180913601-G-A | c.3236G>A | p.R1079Q | Missense | 8/9 | - | 1 |
1-180913604-C-T | c.3239C>T | p.S1080F | Missense | 8/9 | - | 1 |
1-180913606-A-G | c.3241A>G | p.S1081G | Missense | 8/9 | - | 1 |
1-180913610-T-A | c.3245T>A | p.L1082H | Missense | 8/9 | - | 1 |
1-180913611-C-A | c.3246C>A | p.L1082= | Synonymous | 8/9 | - | 1 |
1-180913611-C-G | c.3246C>G | p.L1082= | Synonymous | 8/9 | - | 1 |
1-180913611-C-T | c.3246C>T | p.L1082= | Synonymous | 8/9 | - | 1 |
1-180913614-C-T | c.3249C>T | p.Y1083= | Synonymous | 8/9 | - | 1 |
1-180913621-G-A | c.3256G>A | p.A1086T | Missense | 8/9 | - | 1 |
1-180913630-G-A | c.3265G>A | p.G1089R | Missense | 8/9 | - | 1 |
1-180913631-G-A | c.3266G>A | p.G1089E | Missense | 8/9 | - | 4 |
1-180913635-C-A | c.3270C>A | p.D1090E | Missense | 8/9 | - | 1 |
1-180913640-G-A | c.3275G>A | p.S1092N | Missense | 8/9 | - | 4 |
1-180913644-A-C | c.3279A>C | p.A1093= | Synonymous | 8/9 | - | 1 |
1-180913644-A-G | c.3279A>G | p.A1093= | Synonymous | 8/9 | - | 1 |
1-180913644-A-T | c.3279A>T | p.A1093= | Synonymous | 8/9 | - | 1 |
1-180913651-A-G | c.3286A>G | p.R1096G | Missense | 8/9 | - | 1 |
1-180913654-T-C | c.3287+2T>C | - | IntronicSNV | - | 8/8 | 1 |
1-180913681-T-C | c.3287+29T>C | - | IntronicSNV | - | 8/8 | 1 |
1-180913733-G-A | c.3287+81G>A | - | IntronicSNV | - | 8/8 | 1 |
1-180913874-C-T | c.3287+222C>T | - | IntronicSNV | - | 8/8 | 2 |
1-180914304-C-T | c.3288-135C>T | - | IntronicSNV | - | 8/8 | 3 |
1-180914441-C-T | c.3290C>T | p.P1097L | Missense | 9/9 | - | 1 |
1-180914445-C-A | c.3294C>A | p.A1098= | Synonymous | 9/9 | - | 1 |
1-180914445-C-G | c.3294C>G | p.A1098= | Synonymous | 9/9 | - | 1 |
1-180914446-A-C | c.3295A>C | p.K1099Q | Missense | 9/9 | - | 1 |
1-180914447-A-C | c.3296A>C | p.K1099T | Missense | 9/9 | - | 1 |
1-180914448-G-C | c.3297G>C | p.K1099N | Missense | 9/9 | - | 1 |
1-180914448-G-T | c.3297G>T | p.K1099N | Missense | 9/9 | - | 2 |
1-180914449-A-C | c.3298A>C | p.T1100P | Missense | 9/9 | - | 1 |
1-180914453-C-T | c.3302C>T | p.S1101L | Missense | 9/9 | - | 1 |
1-180914455-C-A | c.3304C>A | p.P1102T | Missense | 9/9 | - | 1 |
1-180914455-C-G | c.3304C>G | p.P1102A | Missense | 9/9 | - | 1 |
1-180914455-C-T | c.3304C>T | p.P1102S | Missense | 9/9 | - | 1 |
1-180914456-C-T | c.3305C>T | p.P1102L | Missense | 9/9 | - | 1 |
1-180914458-C-A | c.3307C>A | p.R1103= | Synonymous | 9/9 | - | 1 |
1-180914460-G-A | c.3309G>A | p.R1103= | Synonymous | 9/9 | - | 1 |
1-180914460-G-C | c.3309G>C | p.R1103= | Synonymous | 9/9 | - | 1 |
1-180914460-G-T | c.3309G>T | p.R1103= | Synonymous | 9/9 | - | 1 |
1-180914459-G-T | c.3308G>T | p.R1103L | Missense | 9/9 | - | 1 |
1-180914462-G-A | c.3311G>A | p.R1104H | Missense | 9/9 | - | 4 |
1-180914464-G-A | c.3313G>A | p.A1105T | Missense | 9/9 | - | 1 |
1-180914469-C-A | c.3318C>A | p.L1106= | Synonymous | 9/9 | - | 2 |
1-180914469-C-G | c.3318C>G | p.L1106= | Synonymous | 9/9 | - | 2 |
1-180914469-C-T | c.3318C>T | p.L1106= | Synonymous | 9/9 | - | 4 |
1-180914473-G-A | c.3322G>A | p.V1108M | Missense | 9/9 | - | 1 |
1-180914479-G-A | c.3328G>A | p.D1110N | Missense | 9/9 | - | 1 |
1-180914480-A-G | c.3329A>G | p.D1110G | Missense | 9/9 | - | 8 |
1-180914481-C-T | c.3330C>T | p.D1110= | Synonymous | 9/9 | - | 1 |
1-180914482-G-A | c.3331G>A | p.V1111M | Missense | 9/9 | - | 3 |
1-180914484-G-A | c.3333G>A | p.V1111= | Synonymous | 9/9 | - | 1 |
1-180914496-C-A | c.3345C>A | p.S1115R | Missense | 9/9 | - | 1 |
1-180914501-C-T | c.3350C>T | p.A1117V | Missense | 9/9 | - | 1 |
1-180914503-C-A | c.3352C>A | p.R1118S | Missense | 9/9 | - | 2 |
1-180914504-G-A | c.3353G>A | p.R1118H | Missense | 9/9 | - | 1 |
1-180914505-C-A | c.3354C>A | p.R1118= | Synonymous | 9/9 | - | 1 |
1-180914505-C-G | c.3354C>G | p.R1118= | Synonymous | 9/9 | - | 1 |
1-180914505-C-T | c.3354C>T | p.R1118= | Synonymous | 9/9 | - | 3 |
1-180914509-G-A | c.3358G>A | p.V1120M | Missense | 9/9 | - | 3 |
1-180914512-G-T | c.3361G>T | p.G1121C | Missense | 9/9 | - | 1 |
1-180914514-C-T | c.3363C>T | p.G1121= | Synonymous | 9/9 | - | 2 |
1-180914515-C-T | c.3364C>T | p.R1122C | Missense | 9/9 | - | 2 |
1-180914516-G-A | c.3365G>A | p.R1122H | Missense | 9/9 | - | 3 |
1-180914523-G-A | c.3372G>A | p.V1124= | Synonymous | 9/9 | - | 2 |
1-180914524-G-A | c.3373G>A | p.E1125K | Missense | 9/9 | - | 1 |
1-180914529-G-A | c.3378G>A | p.V1126= | Synonymous | 9/9 | - | 1 |
1-180914534-C-T | c.3383C>T | p.P1128L | Missense | 9/9 | - | 5 |
1-180914536-G-A | c.3385G>A | p.D1129N | Missense | 9/9 | - | 1 |
1-180914538-C-G | c.3387C>G | p.D1129E | Missense | 9/9 | - | 1 |
1-180914538-C-T | c.3387C>T | p.D1129= | Synonymous | 9/9 | - | 1 |
1-180914539-G-A | c.3388G>A | p.G1130S | Missense | 9/9 | - | 1 |
1-180914539-G-C | c.3388G>C | p.G1130R | Missense | 9/9 | - | 1 |
1-180914543-C-T | c.3392C>T | p.T1131I | Missense | 9/9 | - | 1 |
1-180914546-G-A | c.3395G>A | p.S1132N | Missense | 9/9 | - | 1 |
1-180914545-A-C | c.3394A>C | p.S1132R | Missense | 9/9 | - | 2 |
1-180914547-C-A | c.3396C>A | p.S1132R | Missense | 9/9 | - | 4 |
1-180914547-C-G | c.3396C>G | p.S1132R | Missense | 9/9 | - | 2 |
1-180914563-CGC-TGG | c.3412_3414delinsTGG | p.R1138W | Missense | 9/9 | - | 1 |
1-180914563-C-T | c.3412C>T | p.R1138C | Missense | 9/9 | - | 1 |
1-180914564-G-A | c.3413G>A | p.R1138H | Missense | 9/9 | - | 1 |
1-180914565-C-A | c.3414C>A | p.R1138= | Synonymous | 9/9 | - | 1 |
1-180914565-C-G | c.3414C>G | p.R1138= | Synonymous | 9/9 | - | 1 |
1-180914565-C-T | c.3414C>T | p.R1138= | Synonymous | 9/9 | - | 1 |
1-180914567-C-T | c.3416C>T | p.S1139F | Missense | 9/9 | - | 1 |
1-180914569-C-G | c.3418C>G | p.P1140A | Missense | 9/9 | - | 1 |
1-180914569-C-T | c.3418C>T | p.P1140S | Missense | 9/9 | - | 1 |
1-180914572-G-A | c.3421G>A | p.G1141R | Missense | 9/9 | - | 1 |
1-180914572-GGG-AGC | c.3421_3423delinsAGC | p.G1141S | Missense | 9/9 | - | 1 |
1-180914577-C-A | c.3426C>A | p.G1142= | Synonymous | 9/9 | - | 1 |
1-180914577-C-G | c.3426C>G | p.G1142= | Synonymous | 9/9 | - | 1 |
1-180914577-C-T | c.3426C>T | p.G1142= | Synonymous | 9/9 | - | 1 |
1-180914578-ACT-TAA | c.3427_3429delinsTAA | p.T1143* | Nonsense | 9/9 | - | 1 |
1-180914578-CA-C | c.3427del | p.T1143Lfs*60 | Frameshift | 9/9 | - | 1 |
1-180914579-CTTTCGGCT-C | c.3430_3437del | p.F1144Lfs*27 | Frameshift | 9/9 | - | 1 |
1-180914579-CT-C | c.3431del | p.F1144Sfs*59 | Frameshift | 9/9 | - | 1 |
1-180914583-C-T | c.3432C>T | p.F1144= | Synonymous | 9/9 | - | 2 |
1-180914584-G-A | c.3433G>A | p.G1145S | Missense | 9/9 | - | 1 |
1-180914592-C-T | c.3441C>T | p.C1147= | Synonymous | 9/9 | - | 3 |
1-180914602-G-A | c.3451G>A | p.G1151R | Missense | 9/9 | - | 1 |
1-180914610-G-A | c.3459G>A | p.G1153= | Synonymous | 9/9 | - | 1 |
1-180914611-C-T | c.3460C>T | p.R1154C | Missense | 9/9 | - | 1 |
1-180914614-C-G | c.3463C>G | p.P1155A | Missense | 9/9 | - | 1 |
1-180914621-C-T | c.3470C>T | p.S1157L | Missense | 9/9 | - | 1 |
1-180914625-T-A | c.3474T>A | p.G1158= | Synonymous | 9/9 | - | 2 |
1-180914625-T-C | c.3474T>C | p.G1158= | Synonymous | 9/9 | - | 1 |
1-180914625-T-G | c.3474T>G | p.G1158= | Synonymous | 9/9 | - | 1 |
1-180914630-C-A | c.3479C>A | p.P1160H | Missense | 9/9 | - | 1 |
1-180914631-C-T | c.3480C>T | p.P1160= | Synonymous | 9/9 | - | 1 |
1-180914633-C-T | c.3482C>T | p.S1161F | Missense | 9/9 | - | 1 |
1-180914638-C-T | c.3487C>T | p.L1163F | Missense | 9/9 | - | 2 |
1-180914640-TC-T | c.3491del | p.P1164Lfs*39 | Frameshift | 9/9 | - | 1 |
1-180914644-C-T | c.3493C>T | p.Q1165* | Nonsense | 9/9 | - | 1 |
1-180914647-C-A | c.3496C>A | p.P1166T | Missense | 9/9 | - | 1 |
1-180914661-C-T | c.3510C>T | p.G1170= | Synonymous | 9/9 | - | 1 |
1-180914662-G-A | c.3511G>A | p.G1171S | Missense | 9/9 | - | 1 |
1-180914662-G-C | c.3511G>C | p.G1171R | Missense | 9/9 | - | 1 |
1-180914664-C-T | c.3513C>T | p.G1171= | Synonymous | 9/9 | - | 2 |
1-180914669-G-A | c.3518G>A | p.S1173N | Missense | 9/9 | - | 1 |
1-180914669-G-T | c.3518G>T | p.S1173I | Missense | 9/9 | - | 1 |
1-180914674-C-T | c.3523C>T | p.Q1175* | Nonsense | 9/9 | - | 1 |
1-180914677-G-A | c.3526G>A | p.G1176S | Missense | 9/9 | - | 2 |
1-180914678-G-A | c.3527G>A | p.G1176D | Missense | 9/9 | - | 4 |
1-180914680-A-G | c.3529A>G | p.R1177G | Missense | 9/9 | - | 1 |
1-180914681-G-T | c.3530G>T | p.R1177M | Missense | 9/9 | - | 2 |
1-180914680-A-C | c.3529A>C | p.R1177= | Synonymous | 9/9 | - | 2 |
1-180914682-G-A | c.3531G>A | p.R1177= | Synonymous | 9/9 | - | 5 |
1-180914683-G-A | c.3532G>A | p.A1178T | Missense | 9/9 | - | 1 |
1-180914693-T-A | c.3542T>A | p.L1181Q | Missense | 9/9 | - | 1 |
1-180914694-G-A | c.3543G>A | p.L1181= | Synonymous | 9/9 | - | 1 |
1-180914695-T-C | c.3544T>C | p.W1182R | Missense | 9/9 | - | 1 |
1-180914699-C-T | c.3548C>T | p.S1183L | Missense | 9/9 | - | 1 |
1-180914712-G-A | c.3561G>A | p.L1187= | Synonymous | 9/9 | - | 1 |
1-180914718-T-C | c.3567T>C | p.F1189= | Synonymous | 9/9 | - | 1 |
1-180914720-G-A | c.3569G>A | p.G1190D | Missense | 9/9 | - | 1 |
1-180914728-G-A | c.*4G>A | - | 3-UTRSNV | 9/9 | - | 1 |
1-180914821-C-CT | c.*98dup | - | 3-UTRInsertion | 9/9 | - | 1 |
1-180914867-G-A | c.*143G>A | - | 3-UTRSNV | 9/9 | - | 1 |
1-180914867-G-T | c.*143G>T | - | 3-UTRSNV | 9/9 | - | 1 |
1-180914963-G-A | c.*239G>A | - | 3-UTRSNV | 9/9 | - | 1 |
1-180914966-C-T | c.*242C>T | - | 3-UTRSNV | 9/9 | - | 1 |
1-180915099-C-G | c.*375C>G | - | 3-UTRSNV | 9/9 | - | 1 |
1-180915099-C-T | c.*375C>T | - | 3-UTRSNV | 9/9 | - | 1 |
1-180915596-T-C | c.*872T>C | - | IntergenicSNV | 9/9 | - | 1 |
1-180920026-T-C | c.*5302T>C | - | IntergenicSNV | 9/9 | - | 1 |