Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-153591382-T-A | c.286A>T | p.R96W | Missense | 3/3 | - | 1 |
1-153591383-G-A | c.285C>T | p.I95= | Synonymous | 3/3 | - | 1 |
1-153591383-G-T | c.285C>A | p.I95= | Synonymous | 3/3 | - | 1 |
1-153591385-T-C | c.283A>G | p.I95V | Missense | 3/3 | - | 1 |
1-153591387-T-C | c.281A>G | p.K94R | Missense | 3/3 | - | 1 |
1-153591394-C-G | c.274G>C | p.D92H | Missense | 3/3 | - | 3 |
1-153591394-C-T | c.274G>A | p.D92N | Missense | 3/3 | - | 1 |
1-153591396-T-G | c.272A>C | p.K91T | Missense | 3/3 | - | 1 |
1-153591402-T-C | c.266A>G | p.K89R | Missense | 3/3 | - | 1 |
1-153591407-G-T | c.261C>A | p.I87= | Synonymous | 3/3 | - | 1 |
1-153591411-T-C | c.257A>G | p.E86G | Missense | 3/3 | - | 1 |
1-153591412-C-G | c.256G>C | p.E86Q | Missense | 3/3 | - | 1 |
1-153591413-C-T | c.255G>A | p.K85= | Synonymous | 3/3 | - | 2 |
1-153591417-G-A | c.251C>T | p.A84V | Missense | 3/3 | - | 1 |
1-153591418-C-T | c.250G>A | p.A84T | Missense | 3/3 | - | 1 |
1-153591422-C-T | c.246G>A | p.E82= | Synonymous | 3/3 | - | 1 |
1-153591424-C-A | c.244G>T | p.E82* | Nonsense | 3/3 | - | 1 |
1-153591426-C-A | c.242G>T | p.G81V | Missense | 3/3 | - | 1 |
1-153591429-A-G | c.239T>C | p.I80T | Missense | 3/3 | - | 3 |
1-153591437-C-A | c.231G>T | p.W77C | Missense | 3/3 | - | 1 |
1-153591437-C-G | c.231G>C | p.W77C | Missense | 3/3 | - | 1 |
1-153591445-C-T | c.223G>A | p.E75K | Missense | 3/3 | - | 1 |
1-153591448-T-C | c.220A>G | p.N74D | Missense | 3/3 | - | 1 |
1-153591448-T-G | c.220A>C | p.N74H | Missense | 3/3 | - | 1 |
1-153591452-C-T | c.216G>A | p.K72= | Synonymous | 3/3 | - | 1 |
1-153591455-G-C | c.213C>G | p.L71= | Synonymous | 3/3 | - | 1 |
1-153591460-C-G | c.208G>C | p.E70Q | Missense | 3/3 | - | 1 |
1-153591462-G-A | c.206C>T | p.S69L | Missense | 3/3 | - | 1 |
1-153591462-G-C | c.206C>G | p.S69W | Missense | 3/3 | - | 3 |
1-153591462-G-T | c.206C>A | p.S69* | Nonsense | 3/3 | - | 1 |
1-153591466-C-T | c.202G>A | p.D68N | Missense | 3/3 | - | 2 |
1-153591469-G-C | c.199C>G | p.Q67E | Missense | 3/3 | - | 1 |
1-153591470-A-C | c.198T>G | p.N66K | Missense | 3/3 | - | 1 |
1-153591470-A-T | c.198T>A | p.N66K | Missense | 3/3 | - | 2 |
1-153591484-T-C | c.184A>G | p.S62G | Missense | 3/3 | - | 1 |
1-153591485-C-T | c.183G>A | p.K61= | Synonymous | 3/3 | - | 1 |
1-153591487-T-C | c.181A>G | p.K61E | Missense | 3/3 | - | 2 |
1-153591488-C-A | c.180G>T | p.M60I | Missense | 3/3 | - | 1 |
1-153591488-C-G | c.180G>C | p.M60I | Missense | 3/3 | - | 1 |
1-153591488-C-T | c.180G>A | p.M60I | Missense | 3/3 | - | 1 |
1-153591489-A-T | c.179T>A | p.M60K | Missense | 3/3 | - | 1 |
1-153591502-G-A | c.166C>T | p.L56F | Missense | 3/3 | - | 5 |
1-153591502-G-C | c.166C>G | p.L56V | Missense | 3/3 | - | 1 |
1-153591505-A-G | c.163T>C | p.S55P | Missense | 3/3 | - | 1 |
1-153591507-C-T | c.161G>A | p.G54D | Missense | 3/3 | - | 1 |
1-153591508-C-T | c.160G>A | p.G54S | Missense | 3/3 | - | 7 |
1-153591652-G-A | c.154-138C>T | - | IntronicSNV | - | 2/2 | 4 |
1-153591770-T-C | c.154-256A>G | - | IntronicSNV | - | 2/2 | 1 |
1-153597036-A-G | c.153+1760T>C | - | IntronicSNV | - | 2/2 | 1 |
1-153598597-TCA-T | c.153+197_153+198del | - | IntronicDeletion | - | 2/2 | 1 |
1-153598745-G-C | c.153+51C>G | - | IntronicSNV | - | 2/2 | 1 |
1-153598796-C-T | c.153G>A | p.K51= | Synonymous | 2/3 | - | 1 |
1-153598799-G-A | c.150C>T | p.L50= | Synonymous | 2/3 | - | 3 |
1-153598799-G-C | c.150C>G | p.L50= | Synonymous | 2/3 | - | 4 |
1-153598799-G-T | c.150C>A | p.L50= | Synonymous | 2/3 | - | 3 |
1-153598805-A-C | c.144T>G | p.H48Q | Missense | 2/3 | - | 1 |
1-153598805-A-T | c.144T>A | p.H48Q | Missense | 2/3 | - | 1 |
1-153598806-T-C | c.143A>G | p.H48R | Missense | 2/3 | - | 1 |
1-153598807-G-A | c.142C>T | p.H48Y | Missense | 2/3 | - | 5 |
1-153598807-GGGGCAACTGCTGGGTAACCAGCTCTTTGAACTCGTTGACGCTGA-G | c.98_141del | p.L33Pfs*10 | Frameshift | 2/3 | - | 1 |
1-153598824-A-G | c.125T>C | p.V42A | Missense | 2/3 | - | 2 |
1-153598826-C-A | c.123G>T | p.L41= | Synonymous | 2/3 | - | 3 |
1-153598826-C-G | c.123G>C | p.L41= | Synonymous | 2/3 | - | 1 |
1-153598826-C-T | c.123G>A | p.L41= | Synonymous | 2/3 | - | 1 |
1-153598828-G-A | c.121C>T | p.L41= | Synonymous | 2/3 | - | 1 |
1-153598831-C-G | c.118G>C | p.E40Q | Missense | 2/3 | - | 1 |
1-153598835-G-C | c.114C>G | p.F38L | Missense | 2/3 | - | 1 |
1-153598840-C-T | c.109G>A | p.E37K | Missense | 2/3 | - | 2 |
1-153598841-G-A | c.108C>T | p.N36= | Synonymous | 2/3 | - | 1 |
1-153598845-A-G | c.104T>C | p.V35A | Missense | 2/3 | - | 1 |
1-153598846-C-A | c.103G>T | p.V35F | Missense | 2/3 | - | 1 |
1-153598846-C-T | c.103G>A | p.V35I | Missense | 2/3 | - | 3 |
1-153598847-G-A | c.102C>T | p.S34= | Synonymous | 2/3 | - | 2 |
1-153598849-T-C | c.100A>G | p.S34G | Missense | 2/3 | - | 1 |
1-153598850-G-A | c.99C>T | p.L33= | Synonymous | 2/3 | - | 1 |
1-153598850-G-C | c.99C>G | p.L33= | Synonymous | 2/3 | - | 1 |
1-153598850-G-T | c.99C>A | p.L33= | Synonymous | 2/3 | - | 1 |
1-153598853-G-A | c.96C>T | p.S32= | Synonymous | 2/3 | - | 1 |
1-153598859-C-T | c.90G>A | p.K30= | Synonymous | 2/3 | - | 1 |
1-153598862-C-T | c.87G>A | p.R29= | Synonymous | 2/3 | - | 5 |
1-153598863-C-T | c.86G>A | p.R29Q | Missense | 2/3 | - | 4 |
1-153598862-C-A | c.87G>T | p.R29= | Synonymous | 2/3 | - | 3 |
1-153598862-C-G | c.87G>C | p.R29= | Synonymous | 2/3 | - | 3 |
1-153598864-G-A | c.85C>T | p.R29W | Missense | 2/3 | - | 2 |
1-153598864-G-T | c.85C>A | p.R29= | Synonymous | 2/3 | - | 3 |
1-153598875-C-T | c.74G>A | p.R25K | Missense | 2/3 | - | 1 |
1-153598877-TGC-ATG | c.70_72delinsCAT | p.A24H | Missense | 2/3 | - | 1 |
1-153598879-C-G | c.70G>C | p.A24P | Missense | 2/3 | - | 1 |
1-153598886-G-A | c.63C>T | p.F21= | Synonymous | 2/3 | - | 1 |
1-153598898-G-A | c.51C>T | p.V17= | Synonymous | 2/3 | - | 1 |
1-153598903-C-T | c.46G>A | p.V16M | Missense | 2/3 | - | 1 |
1-153598908-T-C | c.41A>G | p.E14G | Missense | 2/3 | - | 1 |
1-153598914-GA-TC | c.34_35inv | p.S12D | Missense | 2/3 | - | 1 |
1-153598915-A-C | c.34T>G | p.S12A | Missense | 2/3 | - | 1 |
1-153598921-C-A | c.28G>T | p.E10* | Nonsense | 2/3 | - | 1 |
1-153598921-C-G | c.28G>C | p.E10Q | Missense | 2/3 | - | 1 |
1-153598926-T-G | c.23A>C | p.E8A | Missense | 2/3 | - | 1 |
1-153598929-G-C | c.20C>G | p.T7R | Missense | 2/3 | - | 1 |
1-153598931-C-A | c.18G>T | p.L6= | Synonymous | 2/3 | - | 1 |
1-153598931-C-G | c.18G>C | p.L6= | Synonymous | 2/3 | - | 1 |
1-153598931-C-T | c.18G>A | p.L6= | Synonymous | 2/3 | - | 1 |
1-153598933-G-A | c.16C>T | p.L6= | Synonymous | 2/3 | - | 1 |
1-153598945-C-T | c.4G>A | p.A2T | Missense | 2/3 | - | 1 |
1-153598946-C-A | c.3G>T | p.M1? | Missense | 2/3 | - | 1 |