Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
16-28565489-G-A | c.-16+71G>A | - | intron_variant | - | 1/9 | 1 |
16-28565489-G-T | c.-16+71G>T | - | intron_variant | - | 1/9 | 1 |
16-28565667-C-A | c.-16+249C>A | - | intron_variant | - | 1/9 | 4 |
16-28565667-C-G | c.-16+249C>G | - | intron_variant | - | 1/9 | 4 |
16-28565953-A-G | c.-16+535A>G | - | intron_variant | - | 1/9 | 2 |
16-28566158-G-T | c.-16+740G>T | - | intron_variant | - | 1/9 | 5 |
16-28567004-A-G | c.-16+1586A>G | - | intron_variant | - | 1/9 | 1 |
16-28568678-C-T | c.-16+3260C>T | - | intron_variant | - | 1/9 | 4 |
16-28569764-G-C | c.-16+4346G>C | - | intron_variant | - | 1/9 | 1 |
16-28570005-C-T | c.-16+4587C>T | - | intron_variant | - | 1/9 | 8 |
16-28570050-A-G | c.-16+4632A>G | - | intron_variant | - | 1/9 | 1 |
16-28570321-A-G | c.-16+4903A>G | - | intron_variant | - | 1/9 | 1 |
16-28571030-C-A | c.-16+5612C>A | - | intron_variant | - | 1/9 | 1 |
16-28571030-C-T | c.-16+5612C>T | - | intron_variant | - | 1/9 | 1 |
16-28574615-A-G | c.-16+9197A>G | - | intron_variant | - | 1/9 | 5 |
16-28575917-C-T | c.-16+10499C>T | - | intron_variant | - | 1/9 | 1 |
16-28579917-T-C | c.-15-12459T>C | - | IntronicSNV | - | 1/9 | 1 |
16-28579917-T-G | c.-15-12459T>G | - | IntronicSNV | - | 1/9 | 1 |
16-28580685-A-G | c.-15-11691A>G | - | IntronicSNV | - | 1/9 | 1 |
16-28580829-C-G | c.-15-11547C>G | - | IntronicSNV | - | 1/9 | 2 |
16-28580829-C-T | c.-15-11547C>T | - | IntronicSNV | - | 1/9 | 2 |
16-28581038-G-C | c.-15-11338G>C | - | IntronicSNV | - | 1/9 | 1 |
16-28582142-G-T | c.-15-10234G>T | - | IntronicSNV | - | 1/9 | 1 |
16-28582849-A-G | c.-15-9527A>G | - | IntronicSNV | - | 1/9 | 2 |
16-28582941-C-A | c.-15-9435C>A | - | IntronicSNV | - | 1/9 | 2 |
16-28582941-C-T | c.-15-9435C>T | - | IntronicSNV | - | 1/9 | 2 |
16-28583215-G-A | c.-15-9161G>A | - | IntronicSNV | - | 1/9 | 2 |
16-28583865-C-T | c.-15-8511C>T | - | IntronicSNV | - | 1/9 | 2 |
16-28584937-G-A | c.-15-7439G>A | - | IntronicSNV | - | 1/9 | 4 |
16-28585636-C-T | c.-15-6740C>T | - | IntronicSNV | - | 1/9 | 1 |
16-28586127-T-C | c.-15-6249T>C | - | IntronicSNV | - | 1/9 | 8 |
16-28587389-T-C | c.-15-4987T>C | - | IntronicSNV | - | 1/9 | 2 |
16-28587597-G-T | c.-15-4779G>T | - | IntronicSNV | - | 1/9 | 1 |
16-28588049-A-C | c.-15-4327A>C | - | IntronicSNV | - | 1/9 | 1 |
16-28588395-A-C | c.-15-3981A>C | - | IntronicSNV | - | 1/9 | 1 |
16-28588443-C-T | c.-15-3933C>T | - | IntronicSNV | - | 1/9 | 1 |
16-28589455-G-A | c.-15-2921G>A | - | IntronicSNV | - | 1/9 | 1 |
16-28589719-A-G | c.-15-2657A>G | - | IntronicSNV | - | 1/9 | 2 |
16-28590030-G-A | c.-15-2346G>A | - | IntronicSNV | - | 1/9 | 1 |
16-28590030-G-T | c.-15-2346G>T | - | IntronicSNV | - | 1/9 | 1 |
16-28591530-G-A | c.-15-846G>A | - | IntronicSNV | - | 1/9 | 11 |
16-28591579-G-A | c.-15-797G>A | - | IntronicSNV | - | 1/9 | 1 |
16-28593347-T-C | c.75+882T>C | - | IntronicSNV | - | 2/9 | 11 |
16-28593597-G-A | c.75+1132G>A | - | IntronicSNV | - | 2/9 | 6 |
16-28594549-A-G | c.76-1685A>G | - | IntronicSNV | - | 2/9 | 11 |
16-28595700-A-G | c.76-534A>G | - | IntronicSNV | - | 2/9 | 4 |
16-28595810-C-G | c.76-424C>G | - | IntronicSNV | - | 2/9 | 1 |
16-28595810-C-T | c.76-424C>T | - | IntronicSNV | - | 2/9 | 1 |
16-28595989-A-G | c.76-245A>G | - | IntronicSNV | - | 2/9 | 1 |
16-28596261-TT-GC | c.103_104delinsGC | p.Leu35Ala | Missense | 3/10 | - | 1 |
16-28596294-CA-AT | c.136_137delinsAT | p.Gln46Met | Missense | 3/10 | - | 1 |
16-28596297-ACA-GAC | c.139_141delinsGAC | p.Thr47Asp | Missense | 3/10 | - | 1 |
16-28596884-G-A | c.152-85G>A | - | IntronicSNV | - | 3/9 | 7 |
16-28599411-A-G | c.225-1010A>G | - | IntronicSNV | - | 4/9 | 1 |
16-28600091-C-T | c.225-330C>T | - | IntronicSNV | - | 4/9 | 1 |
16-28600381-C-T | c.225-40C>T | - | IntronicSNV | - | 4/9 | 1 |
16-28602449-T-G | c.765+193T>G | - | IntronicSNV | - | 9/9 | 1 |
16-28602839-G-C | c.766-72G>C | - | IntronicSNV | - | 9/9 | 1 |
16-28602991-A-G | c.846A>G | p.Arg282Arg | Synonymous | 10/10 | - | 5 |
16-28603012-A-G | c.867A>G | p.Glu289Glu | Synonymous | 10/10 | - | 4 |
16-28603012-A-T | c.867A>T | p.Glu289Asp | Missense | 10/10 | - | 4 |