| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 7-22852643-T-A | c.*146A>T | - | 3-UTRSNV | 3/3 | - | 8 |
| 7-22852663-G-A | c.*126C>T | - | 3-UTRSNV | 3/3 | - | 2 |
| 7-22853135-C-T | c.153-331G>A | - | IntronicSNV | - | 2/2 | 1 |
| 7-22853521-C-T | c.153-717G>A | - | IntronicSNV | - | 2/2 | 1 |
| 7-22855628-G-T | c.152+1991C>A | - | IntronicSNV | - | 2/2 | 2 |
| 7-22856293-G-A | c.152+1326C>T | - | IntronicSNV | - | 2/2 | 1 |
| 7-22856293-G-C | c.152+1326C>G | - | IntronicSNV | - | 2/2 | 1 |
| 7-22856606-C-T | c.152+1013G>A | - | IntronicSNV | - | 2/2 | 1 |
| 7-22856804-T-C | c.152+815A>G | - | IntronicSNV | - | 2/2 | 1 |
| 7-22857030-CTT-C | c.152+587_152+588del | - | IntronicDeletion | - | 2/2 | 1 |
| 7-22857030-CT-C | c.152+588del | - | IntronicDeletion | - | 2/2 | 1 |
| 7-22857305-G-A | c.152+314C>T | - | IntronicSNV | - | 2/2 | 2 |
| 7-22857477-T-C | c.152+142A>G | - | IntronicSNV | - | 2/2 | 4 |
| 7-22857504-T-C | c.152+115A>G | - | IntronicSNV | - | 2/2 | 5 |
| 7-22857589-T-C | c.152+30A>G | - | IntronicSNV | - | 2/2 | 8 |
| 7-22857616-T-A | c.152+3A>T | - | IntronicSNV | - | 2/2 | 1 |
| 7-22857624-AAC-CAT | c.145_147delinsATG | p.V49M | Missense | 2/3 | - | 1 |
| 7-22857628-G-A | c.143C>T | p.T48I | Missense | 2/3 | - | 1 |
| 7-22857629-T-C | c.142A>G | p.T48A | Missense | 2/3 | - | 1 |
| 7-22857635-C-T | c.136G>A | p.E46K | Missense | 2/3 | - | 1 |
| 7-22857636-A-G | c.135T>C | p.P45= | Synonymous | 2/3 | - | 1 |
| 7-22857638-G-T | c.133C>A | p.P45T | Missense | 2/3 | - | 1 |
| 7-22857644-C-T | c.127G>A | p.G43R | Missense | 2/3 | - | 1 |
| 7-22857646-G-A | c.125C>T | p.P42L | Missense | 2/3 | - | 2 |
| 7-22857660-CT-C | c.110del | p.K37Rfs*14 | Frameshift | 2/3 | - | 1 |
| 7-22857667-C-T | c.104G>A | p.G35E | Missense | 2/3 | - | 1 |
| 7-22857682-A-G | c.104-15T>C | - | IntronicSNV | - | 1/2 | 4 |
| 7-22859475-A-T | c.104-1808T>A | - | IntronicSNV | - | 1/2 | 1 |
| 7-22861550-G-C | c.103+746C>G | - | IntronicSNV | - | 1/2 | 1 |
| 7-22861552-A-G | c.103+744T>C | - | IntronicSNV | - | 1/2 | 1 |
| 7-22861639-C-A | c.103+657G>T | - | IntronicSNV | - | 1/2 | 5 |
| 7-22861700-G-C | c.103+596C>G | - | IntronicSNV | - | 1/2 | 1 |
| 7-22861739-T-C | c.103+557A>G | - | IntronicSNV | - | 1/2 | 3 |
| 7-22861978-G-A | c.103+318C>T | - | IntronicSNV | - | 1/2 | 6 |
| 7-22862131-A-C | c.103+165T>G | - | IntronicSNV | - | 1/2 | 4 |
| 7-22862183-G-A | c.103+113C>T | - | IntronicSNV | - | 1/2 | 6 |
| 7-22862183-G-C | c.103+113C>G | - | IntronicSNV | - | 1/2 | 2 |
| 7-22862192-A-G | c.103+104T>C | - | IntronicSNV | - | 1/2 | 4 |
| 7-22862192-A-T | c.103+104T>A | - | IntronicSNV | - | 1/2 | 1 |
| 7-22862297-C-A | c.102G>T | p.L34= | Synonymous | 1/3 | - | 1 |
| 7-22862301-T-C | c.98A>G | p.Y33C | Missense | 1/3 | - | 1 |
| 7-22862303-A-C | c.96T>G | p.I32M | Missense | 1/3 | - | 6 |
| 7-22862306-C-A | c.93G>T | p.V31= | Synonymous | 1/3 | - | 1 |
| 7-22862306-C-G | c.93G>C | p.V31= | Synonymous | 1/3 | - | 1 |
| 7-22862306-C-T | c.93G>A | p.V31= | Synonymous | 1/3 | - | 2 |
| 7-22862308-C-T | c.91G>A | p.V31M | Missense | 1/3 | - | 3 |
| 7-22862311-G-A | c.88C>T | p.L30F | Missense | 1/3 | - | 2 |
| 7-22862313-G-A | c.86C>T | p.P29L | Missense | 1/3 | - | 2 |
| 7-22862314-G-A | c.85C>T | p.P29S | Missense | 1/3 | - | 1 |
| 7-22862324-C-T | c.75G>A | p.W25* | Nonsense | 1/3 | - | 4 |
| 7-22862325-C-T | c.74G>A | p.W25* | Nonsense | 1/3 | - | 2 |
| 7-22862326-A-G | c.73T>C | p.W25R | Missense | 1/3 | - | 1 |
| 7-22862333-GG-CT | c.65_66delinsAG | p.A22E | Missense | 1/3 | - | 1 |
| 7-22862335-C-G | c.64G>C | p.A22P | Missense | 1/3 | - | 1 |
| 7-22862344-T-A | c.55A>T | p.S19C | Missense | 1/3 | - | 1 |
| 7-22862346-C-T | c.53G>A | p.G18E | Missense | 1/3 | - | 1 |
| 7-22862348-C-T | c.51G>A | p.K17= | Synonymous | 1/3 | - | 3 |
| 7-22862359-G-A | c.40C>T | p.Q14* | Nonsense | 1/3 | - | 1 |
| 7-22862360-C-T | c.39G>A | p.Q13= | Synonymous | 1/3 | - | 1 |
| 7-22862367-C-T | c.32G>A | p.R11K | Missense | 1/3 | - | 1 |
| 7-22862369-C-T | c.30G>A | p.Q10= | Synonymous | 1/3 | - | 4 |
| 7-22862384-G-A | c.15C>T | p.S5= | Synonymous | 1/3 | - | 1 |
| 7-22862386-T-C | c.13A>G | p.S5G | Missense | 1/3 | - | 5 |
| 7-22862467-G-A | c.-69C>T | - | 5-UTRSNV | 1/3 | - | 9 |