Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
11-116700687-G-A | c.-14+31G>A | - | intron_variant | - | 1/3 | 2 |
11-116700687-G-C | c.-14+31G>C | - | intron_variant | - | 1/3 | 2 |
11-116700775-C-T | c.-14+119C>T | - | intron_variant | - | 1/3 | 2 |
11-116700777-G-C | c.-14+121G>C | - | intron_variant | - | 1/3 | 3 |
11-116700785-C-T | c.-14+129C>T | - | intron_variant | - | 1/3 | 2 |
11-116700860-C-T | c.-14+204C>T | - | intron_variant | - | 1/3 | 6 |
11-116701028-G-A | c.-13-258G>A | - | IntronicSNV | - | 1/3 | 1 |
11-116701122-C-A | c.-13-164C>A | - | IntronicSNV | - | 1/3 | 7 |
11-116701122-C-G | c.-13-164C>G | - | IntronicSNV | - | 1/3 | 7 |
11-116701146-C-A | c.-13-140C>A | - | IntronicSNV | - | 1/3 | 1 |
11-116701153-T-G | c.-13-133T>G | - | IntronicSNV | - | 1/3 | 2 |
11-116701199-T-A | c.-13-87T>A | - | IntronicSNV | - | 1/3 | 1 |
11-116701204-C-T | c.-13-82C>T | - | IntronicSNV | - | 1/3 | 1 |
11-116701216-G-A | c.-13-70G>A | - | IntronicSNV | - | 1/3 | 3 |
11-116701224-C-T | c.-13-62C>T | - | IntronicSNV | - | 1/3 | 1 |
11-116701308-C-A | c.10C>A | p.Arg4Arg | Synonymous | 2/4 | - | 1 |
11-116701309-G-A | c.11G>A | p.Arg4Gln | Missense | 2/4 | - | 1 |
11-116701326-G-A | c.28G>A | p.Ala10Thr | Missense | 2/4 | - | 1 |
11-116701336-C-T | c.38C>T | p.Ala13Val | Missense | 2/4 | - | 1 |
11-116701353-C-G | c.55C>G | p.Arg19Gly | Missense | 2/4 | - | 15 |
11-116701353-C-T | c.55C>T | p.Arg19* | Nonsense | 2/4 | - | 74 |
11-116701354-G-A | c.55+1G>A | - | IntronicSNV | - | 2/3 | 27 |
11-116701444-C-T | c.56-45C>T | - | IntronicSNV | - | 2/3 | 1 |
11-116701489-G-C | c.56G>C | p.Arg19Pro | Missense | 3/4 | - | 3 |
11-116701489-G-T | c.56G>T | p.Arg19Leu | Missense | 3/4 | - | 1 |
11-116701500-G-A | c.67G>A | p.Ala23Thr | Missense | 3/4 | - | 10 |
11-116701503-G-A | c.70G>A | p.Glu24Lys | Missense | 3/4 | - | 1 |
11-116701505-G-C | c.72G>C | p.Glu24Asp | Missense | 3/4 | - | 1 |
11-116701505-G-T | c.72G>T | p.Glu24Asp | Missense | 3/4 | - | 1 |
11-116701506-G-A | c.73G>A | p.Asp25Asn | Missense | 3/4 | - | 1 |
11-116701507-A-T | c.74A>T | p.Asp25Val | Missense | 3/4 | - | 2 |
11-116701512-T-G | c.79T>G | p.Ser27Ala | Missense | 3/4 | - | 1 |
11-116701516-T-C | c.83T>C | p.Leu28Pro | Missense | 3/4 | - | 1 |
11-116701532-G-A | c.99G>A | p.Gln33Gln | Synonymous | 3/4 | - | 1 |
11-116701535-T-A | c.102T>A | p.Gly34Gly | Synonymous | 3/4 | - | 5 |
11-116701535-T-C | c.102T>C | p.Gly34Gly | Synonymous | 3/4 | - | 43 |
11-116701535-T-G | c.102T>G | p.Gly34Gly | Synonymous | 3/4 | - | 5 |
11-116701559-C-T | c.126C>T | p.Thr42Thr | Synonymous | 3/4 | - | 1 |
11-116701560-G-A | c.127G>A | p.Ala43Thr | Missense | 3/4 | - | 26 |
11-116701560-G-T | c.127G>T | p.Ala43Ser | Missense | 3/4 | - | 6 |
11-116701566-G-A | c.133G>A | p.Asp45Asn | Missense | 3/4 | - | 1 |
11-116701567-A-T | c.134A>T | p.Asp45Val | Missense | 3/4 | - | 1 |
11-116701605-C-A | c.172C>A | p.Gln58Lys | Missense | 3/4 | - | 1 |
11-116701613-G-T | c.179+1G>T | - | IntronicSNV | - | 3/3 | 7 |
11-116701669-G-A | c.179+57G>A | - | IntronicSNV | - | 3/3 | 4 |
11-116701669-G-C | c.179+57G>C | - | IntronicSNV | - | 3/3 | 3 |
11-116701669-G-T | c.179+57G>T | - | IntronicSNV | - | 3/3 | 3 |
11-116701674-T-A | c.179+62T>A | - | IntronicSNV | - | 3/3 | 4 |
11-116701674-T-C | c.179+62T>C | - | IntronicSNV | - | 3/3 | 4 |
11-116701718-C-T | c.179+106C>T | - | IntronicSNV | - | 3/3 | 1 |
11-116701833-G-A | c.179+221G>A | - | IntronicSNV | - | 3/3 | 2 |
11-116701850-T-A | c.179+238T>A | - | IntronicSNV | - | 3/3 | 7 |
11-116701850-T-C | c.179+238T>C | - | IntronicSNV | - | 3/3 | 7 |
11-116701854-G-A | c.179+242G>A | - | IntronicSNV | - | 3/3 | 1 |
11-116702121-C-T | c.179+509C>T | - | IntronicSNV | - | 3/3 | 1 |
11-116702123-T-C | c.179+511T>C | - | IntronicSNV | - | 3/3 | 1 |
11-116702167-G-A | c.179+555G>A | - | IntronicSNV | - | 3/3 | 1 |
11-116702229-C-T | c.179+617C>T | - | IntronicSNV | - | 3/3 | 1 |
11-116702251-T-C | c.179+639T>C | - | IntronicSNV | - | 3/3 | 1 |
11-116702345-T-A | c.179+733T>A | - | IntronicSNV | - | 3/3 | 1 |
11-116702345-T-C | c.179+733T>C | - | IntronicSNV | - | 3/3 | 1 |
11-116702362-T-C | c.179+750T>C | - | IntronicSNV | - | 3/3 | 2 |
11-116702362-T-G | c.179+750T>G | - | IntronicSNV | - | 3/3 | 2 |
11-116702579-T-C | c.180-901T>C | - | IntronicSNV | - | 3/3 | 1 |
11-116702778-C-A | c.180-702C>A | - | IntronicSNV | - | 3/3 | 4 |
11-116702778-C-T | c.180-702C>T | - | IntronicSNV | - | 3/3 | 4 |
11-116703146-C-A | c.180-334C>A | - | IntronicSNV | - | 3/3 | 4 |
11-116703146-C-T | c.180-334C>T | - | IntronicSNV | - | 3/3 | 4 |
11-116703398-G-A | c.180-82G>A | - | IntronicSNV | - | 3/3 | 1 |
11-116703398-G-C | c.180-82G>C | - | IntronicSNV | - | 3/3 | 1 |
11-116703403-G-T | c.180-77G>T | - | IntronicSNV | - | 3/3 | 1 |
11-116703445-A-T | c.180-35A>T | - | IntronicSNV | - | 3/3 | 1 |
11-116703480-G-A | c.180G>A | p.Arg60Arg | Synonymous | 4/4 | - | 1 |
11-116703485-G-A | c.185G>A | p.Trp62* | Nonsense | 4/4 | - | 1 |
11-116703486-G-A | c.186G>A | p.Trp62* | Nonsense | 4/4 | - | 1 |
11-116703540-G-A | c.240G>A | p.Lys80Lys | Synonymous | 4/4 | - | 2 |
11-116703564-C-A | c.264C>A | p.Asp88Glu | Missense | 4/4 | - | 1 |
11-116703640-G-C | c.*40G>C | - | 3-UTRSNV | 4/4 | - | 100 |
11-116703671-G-T | c.*71G>T | - | 3-UTRSNV | 4/4 | - | 22 |
11-116703696-C-T | c.*96C>T | - | 3-UTRSNV | 4/4 | - | 1 |
11-116703739-C-G | c.*139C>G | - | 3-UTRSNV | 4/4 | - | 3 |
11-116703739-C-T | c.*139C>T | - | 3-UTRSNV | 4/4 | - | 3 |