Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-201252866-C-T | c.36C>T | p.Tyr12Tyr | Synonymous | 1/15 | - | 2 |
1-201252909-T-G | c.79T>G | p.Ser27Ala | Missense | 1/15 | - | 1 |
1-201252991-C-T | c.161C>T | p.Ser54Phe | Missense | 1/15 | - | 1 |
1-201253033-G-C | c.202+1G>C | - | IntronicSNV | - | 1/14 | 1 |
1-201255199-T-A | c.202+2167T>A | - | IntronicSNV | - | 1/14 | 1 |
1-201255199-T-C | c.202+2167T>C | - | IntronicSNV | - | 1/14 | 1 |
1-201256771-G-A | c.202+3739G>A | - | IntronicSNV | - | 1/14 | 2 |
1-201256771-G-T | c.202+3739G>T | - | IntronicSNV | - | 1/14 | 2 |
1-201258519-A-C | c.203-4551A>C | - | IntronicSNV | - | 1/14 | 1 |
1-201258519-A-G | c.203-4551A>G | - | IntronicSNV | - | 1/14 | 1 |
1-201258519-A-T | c.203-4551A>T | - | IntronicSNV | - | 1/14 | 1 |
1-201259981-G-A | c.203-3089G>A | - | IntronicSNV | - | 1/14 | 1 |
1-201262432-C-G | c.203-638C>G | - | IntronicSNV | - | 1/14 | 3 |
1-201262432-C-T | c.203-638C>T | - | IntronicSNV | - | 1/14 | 3 |
1-201263069-G-A | c.203-1G>A | - | IntronicSNV | - | 1/14 | 1 |
1-201263069-G-T | c.203-1G>T | - | IntronicSNV | - | 1/14 | 1 |
1-201263080-T-A | c.213T>A | p.Tyr71* | Nonsense | 2/15 | - | 1 |
1-201263080-T-G | c.213T>G | p.Tyr71* | Nonsense | 2/15 | - | 1 |
1-201263108-G-A | c.241G>A | p.Gly81Arg | Missense | 2/15 | - | 1 |
1-201263150-G-A | c.283G>A | p.Gly95Arg | Missense | 2/15 | - | 1 |
1-201263150-G-C | c.283G>C | p.Gly95Arg | Missense | 2/15 | - | 1 |
1-201268034-G-A | c.306+4861G>A | - | IntronicSNV | - | 2/14 | 1 |
1-201269313-A-G | c.306+6140A>G | - | IntronicSNV | - | 2/14 | 1 |
1-201269687-C-G | c.306+6514C>G | - | IntronicSNV | - | 2/14 | 1 |
1-201271222-C-A | c.306+8049C>A | - | IntronicSNV | - | 2/14 | 1 |
1-201271222-C-T | c.306+8049C>T | - | IntronicSNV | - | 2/14 | 1 |
1-201276627-G-A | c.307-5667G>A | - | IntronicSNV | - | 2/14 | 1 |
1-201277691-G-T | c.307-4603G>T | - | IntronicSNV | - | 2/14 | 1 |
1-201282505-GC-AG | c.518_519delinsAG | p.Gly173Glu | Missense | 3/15 | - | 1 |
1-201282549-AG-GT | c.562_563delinsGT | p.Ser188Val | Missense | 3/15 | - | 1 |
1-201282573-A-G | c.586A>G | p.Ile196Val | Missense | 3/15 | - | 1 |
1-201285721-C-T | c.742C>T | p.Pro248Ser | Missense | 4/15 | - | 1 |
1-201285759-A-C | c.780A>C | p.Lys260Asn | Missense | 4/15 | - | 1 |
1-201285759-A-G | c.780A>G | p.Lys260Lys | Synonymous | 4/15 | - | 1 |
1-201285776-C-A | c.797C>A | p.Ala266Asp | Missense | 4/15 | - | 1 |
1-201286318-G-A | c.847-382G>A | - | IntronicSNV | - | 4/14 | 1 |
1-201286678-C-T | c.847-22C>T | - | IntronicSNV | - | 4/14 | 1 |
1-201286763-C-T | c.910C>T | p.Gln304* | Nonsense | 5/15 | - | 3 |
1-201286832-AGG-TGT | c.979_981delinsTGT | p.Arg327Cys | Missense | 5/15 | - | 1 |
1-201288007-G-A | c.1232+84G>A | - | IntronicSNV | - | 6/14 | 1 |
1-201288898-A-C | c.1233-46A>C | - | IntronicSNV | - | 6/14 | 1 |
1-201288955-G-A | c.1244G>A | p.Gly415Asp | Missense | 7/15 | - | 1 |
1-201288982-C-A | c.1271C>A | p.Pro424Gln | Missense | 7/15 | - | 1 |
1-201288982-C-T | c.1271C>T | p.Pro424Leu | Missense | 7/15 | - | 1 |
1-201289498-T-C | c.1399T>C | p.Cys467Arg | Missense | 8/15 | - | 1 |
1-201289703-C-A | c.1410+194C>A | - | IntronicSNV | - | 8/14 | 1 |
1-201290790-T-A | c.1411-316T>A | - | IntronicSNV | - | 8/14 | 1 |
1-201291160-G-A | c.1465G>A | p.Glu489Lys | Missense | 9/15 | - | 1 |
1-201293985-G-A | c.1898-84G>A | - | IntronicSNV | - | 11/14 | 1 |
1-201294418-C-A | c.2084+163C>A | - | IntronicSNV | - | 12/14 | 1 |
1-201294418-C-G | c.2084+163C>G | - | IntronicSNV | - | 12/14 | 1 |
1-201294418-C-T | c.2084+163C>T | - | IntronicSNV | - | 12/14 | 1 |
1-201294893-A-T | c.2096A>T | p.Lys699Met | Missense | 13/15 | - | 1 |
1-201294910-C-T | c.2113C>T | p.Arg705Trp | Missense | 13/15 | - | 1 |
1-201294952-G-T | c.2155G>T | p.Gly719Cys | Missense | 13/15 | - | 1 |
1-201295107-C-T | c.2169+141C>T | - | IntronicSNV | - | 13/14 | 1 |
1-201298156-G-A | c.*192G>A | - | IntronicSNV | 15/15 | - | 1 |
1-201298352-G-A | c.*32+356G>A | - | IntronicSNV | - | 14/14 | 1 |
1-201299393-T-A | c.*224T>A | - | 3_prime_UTR_variant | 15/15 | - | 1 |
1-201299393-T-C | c.*224T>C | - | 3_prime_UTR_variant | 15/15 | - | 1 |
1-201299393-T-G | c.*224T>G | - | 3_prime_UTR_variant | 15/15 | - | 1 |
1-201301053-G-A | c.*1884G>A | - | 3_prime_UTR_variant | 15/15 | - | 2 |
1-201301111-A-C | c.*1942A>C | - | 3_prime_UTR_variant | 15/15 | - | 1 |
1-201301111-A-G | c.*1942A>G | - | 3_prime_UTR_variant | 15/15 | - | 1 |
1-201301111-A-T | c.*1942A>T | - | 3_prime_UTR_variant | 15/15 | - | 1 |
1-201301696-G-A | c.*2527G>A | - | 3_prime_UTR_variant | 15/15 | - | 1 |
1-201301873-A-G | c.*2704A>G | - | 3_prime_UTR_variant | 15/15 | - | 1 |
1-201301873-A-T | c.*2704A>T | - | 3_prime_UTR_variant | 15/15 | - | 1 |