Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
5-150158563-T-C | c.-12+29T>C | - | intron_variant | - | 1/1 | 1 |
5-150159415-T-G | c.-12+881T>G | - | intron_variant | - | 1/1 | 1 |
5-150167971-C-T | c.-11-7021C>T | - | IntronicSNV | - | 1/1 | 1 |
5-150169843-C-A | c.-11-5149C>A | - | IntronicSNV | - | 1/1 | 1 |
5-150169883-A-T | c.-11-5109A>T | - | IntronicSNV | - | 1/1 | 3 |
5-150170609-C-T | c.-11-4383C>T | - | IntronicSNV | - | 1/1 | 1 |
5-150170966-C-T | c.-11-4026C>T | - | IntronicSNV | - | 1/1 | 1 |
5-150171133-A-G | c.-11-3859A>G | - | IntronicSNV | - | 1/1 | 1 |
5-150171210-T-C | c.-11-3782T>C | - | IntronicSNV | - | 1/1 | 2 |
5-150171559-A-G | c.-11-3433A>G | - | IntronicSNV | - | 1/1 | 1 |
5-150172109-A-T | c.-11-2883A>T | - | IntronicSNV | - | 1/1 | 1 |
5-150172392-T-C | c.-11-2600T>C | - | IntronicSNV | - | 1/1 | 1 |
5-150173303-T-C | c.-11-1689T>C | - | IntronicSNV | - | 1/1 | 1 |
5-150173548-G-C | c.-11-1444G>C | - | IntronicSNV | - | 1/1 | 1 |
5-150174295-A-C | c.-11-697A>C | - | IntronicSNV | - | 1/1 | 2 |
5-150174522-C-G | c.-11-470C>G | - | IntronicSNV | - | 1/1 | 1 |
5-150174522-C-T | c.-11-470C>T | - | IntronicSNV | - | 1/1 | 1 |
5-150174527-T-C | c.-11-465T>C | - | IntronicSNV | - | 1/1 | 1 |
5-150174558-T-A | c.-11-434T>A | - | IntronicSNV | - | 1/1 | 2 |
5-150174810-T-C | c.-11-182T>C | - | IntronicSNV | - | 1/1 | 2 |
5-150174892-T-G | c.-11-100T>G | - | IntronicSNV | - | 1/1 | 4 |
5-150174959-G-A | c.-11-33G>A | - | IntronicSNV | - | 1/1 | 6 |
5-150175003-A-G | c.1A>G | p.M1? | Missense | 2/2 | - | 1 |
5-150175014-C-T | c.12C>T | p.V4= | Synonymous | 2/2 | - | 1 |
5-150175015-A-T | c.13A>T | p.S5C | Missense | 2/2 | - | 1 |
5-150175034-T-G | c.32T>G | p.V11G | Missense | 2/2 | - | 1 |
5-150175035-C-A | c.33C>A | p.V11= | Synonymous | 2/2 | - | 1 |
5-150175035-C-G | c.33C>G | p.V11= | Synonymous | 2/2 | - | 1 |
5-150175035-C-T | c.33C>T | p.V11= | Synonymous | 2/2 | - | 2 |
5-150175036-G-A | c.34G>A | p.V12M | Missense | 2/2 | - | 1 |
5-150175044-C-A | c.42C>A | p.P14= | Synonymous | 2/2 | - | 2 |
5-150175044-C-G | c.42C>G | p.P14= | Synonymous | 2/2 | - | 1 |
5-150175044-C-T | c.42C>T | p.P14= | Synonymous | 2/2 | - | 1 |
5-150175051-A-G | c.49A>G | p.I17V | Missense | 2/2 | - | 1 |
5-150175066-G-A | c.64G>A | p.V22I | Missense | 2/2 | - | 1 |
5-150175068-T-A | c.66T>A | p.V22= | Synonymous | 2/2 | - | 1 |
5-150175068-T-C | c.66T>C | p.V22= | Synonymous | 2/2 | - | 1 |
5-150175068-T-G | c.66T>G | p.V22= | Synonymous | 2/2 | - | 1 |
5-150175080-C-A | c.78C>A | p.I26= | Synonymous | 2/2 | - | 1 |
5-150175080-C-T | c.78C>T | p.I26= | Synonymous | 2/2 | - | 1 |
5-150175083-C-T | c.81C>T | p.I27= | Synonymous | 2/2 | - | 1 |
5-150175101-C-T | c.99C>T | p.I33= | Synonymous | 2/2 | - | 1 |
5-150175109-C-T | c.107C>T | p.S36L | Missense | 2/2 | - | 7 |
5-150175110-G-A | c.108G>A | p.S36= | Synonymous | 2/2 | - | 1 |
5-150175110-G-C | c.108G>C | p.S36= | Synonymous | 2/2 | - | 1 |
5-150175110-G-T | c.108G>T | p.S36= | Synonymous | 2/2 | - | 1 |
5-150175117-C-T | c.115C>T | p.L39= | Synonymous | 2/2 | - | 1 |
5-150175119-G-A | c.117G>A | p.L39= | Synonymous | 2/2 | - | 1 |
5-150175119-G-C | c.117G>C | p.L39= | Synonymous | 2/2 | - | 1 |
5-150175119-G-T | c.117G>T | p.L39= | Synonymous | 2/2 | - | 1 |
5-150175122-C-T | c.120C>T | p.C40= | Synonymous | 2/2 | - | 1 |
5-150175123-C-A | c.121C>A | p.P41T | Missense | 2/2 | - | 1 |
5-150175124-C-A | c.122C>A | p.P41Q | Missense | 2/2 | - | 1 |
5-150175126-G-T | c.124G>T | p.A42S | Missense | 2/2 | - | 1 |
5-150175148-G-A | c.146G>A | p.R49H | Missense | 2/2 | - | 1 |
5-150175153-C-A | c.151C>A | p.R51= | Synonymous | 2/2 | - | 2 |
5-150175153-C-T | c.151C>T | p.R51W | Missense | 2/2 | - | 6 |
5-150175155-G-A | c.153G>A | p.R51= | Synonymous | 2/2 | - | 2 |
5-150175155-G-C | c.153G>C | p.R51= | Synonymous | 2/2 | - | 2 |
5-150175155-G-T | c.153G>T | p.R51= | Synonymous | 2/2 | - | 2 |
5-150175154-G-A | c.152G>A | p.R51Q | Missense | 2/2 | - | 5 |
5-150175175-G-T | c.173G>T | p.G58V | Missense | 2/2 | - | 1 |
5-150175180-G-A | c.178G>A | p.V60I | Missense | 2/2 | - | 1 |
5-150175414-G-A | c.*229G>A | - | 3-UTRSNV | 2/2 | - | 1 |