| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 7-107114400-A-ATT | c.-26-73_-26-72dup | - | IntronicInsertion | - | 2/2 | 2 |
| 7-107114400-A-AT | c.-26-72dup | - | IntronicInsertion | - | 2/2 | 2 |
| 7-107114506-A-T | c.1A>T | p.M1? | Missense | 3/3 | - | 1 |
| 7-107114516-C-G | c.11C>G | p.S4C | Missense | 3/3 | - | 1 |
| 7-107114516-C-T | c.11C>T | p.S4F | Missense | 3/3 | - | 1 |
| 7-107114530-A-G | c.25A>G | p.I9V | Missense | 3/3 | - | 1 |
| 7-107114534-A-C | c.29A>C | p.N10T | Missense | 3/3 | - | 1 |
| 7-107114555-T-A | c.50T>A | p.I17N | Missense | 3/3 | - | 1 |
| 7-107114556-T-C | c.51T>C | p.I17= | Synonymous | 3/3 | - | 1 |
| 7-107114558-C-T | c.53C>T | p.T18I | Missense | 3/3 | - | 1 |
| 7-107114561-T-C | c.56T>C | p.V19A | Missense | 3/3 | - | 1 |
| 7-107114562-G-A | c.57G>A | p.V19= | Synonymous | 3/3 | - | 2 |
| 7-107114563-C-T | c.58C>T | p.R20* | Nonsense | 3/3 | - | 4 |
| 7-107114564-G-A | c.59G>A | p.R20Q | Missense | 3/3 | - | 1 |
| 7-107114569-G-A | c.64G>A | p.D22N | Missense | 3/3 | - | 1 |
| 7-107114570-A-G | c.65A>G | p.D22G | Missense | 3/3 | - | 2 |
| 7-107114575-G-A | c.70G>A | p.D24N | Missense | 3/3 | - | 1 |
| 7-107114579-A-G | c.74A>G | p.D25G | Missense | 3/3 | - | 2 |
| 7-107114588-C-T | c.83C>T | p.T28I | Missense | 3/3 | - | 1 |
| 7-107114595-G-A | c.90G>A | p.M30I | Missense | 3/3 | - | 1 |
| 7-107114595-G-C | c.90G>C | p.M30I | Missense | 3/3 | - | 1 |
| 7-107114595-G-T | c.90G>T | p.M30I | Missense | 3/3 | - | 1 |
| 7-107114597-A-C | c.92A>C | p.Y31S | Missense | 3/3 | - | 1 |
| 7-107114597-A-G | c.92A>G | p.Y31C | Missense | 3/3 | - | 1 |
| 7-107114603-C-A | c.98C>A | p.P33Q | Missense | 3/3 | - | 3 |
| 7-107114607-A-C | c.102A>C | p.L34= | Synonymous | 3/3 | - | 1 |
| 7-107114613-T-A | c.108T>A | p.Y36* | Nonsense | 3/3 | - | 4 |
| 7-107114613-T-G | c.108T>G | p.Y36* | Nonsense | 3/3 | - | 3 |
| 7-107114615-C-G | c.110C>G | p.P37R | Missense | 3/3 | - | 1 |
| 7-107114615-C-T | c.110C>T | p.P37L | Missense | 3/3 | - | 3 |
| 7-107114619-A-AT | c.114_115insT | p.S39* | Nonsense | 3/3 | - | 1 |
| 7-107114639-C-T | c.134C>T | p.T45I | Missense | 3/3 | - | 2 |
| 7-107114641-G-A | c.136G>A | p.G46R | Missense | 3/3 | - | 1 |
| 7-107114642-G-A | c.137G>A | p.G46E | Missense | 3/3 | - | 3 |
| 7-107114652-G-A | c.147G>A | p.M49I | Missense | 3/3 | - | 3 |
| 7-107114652-G-C | c.147G>C | p.M49I | Missense | 3/3 | - | 1 |
| 7-107114652-G-T | c.147G>T | p.M49I | Missense | 3/3 | - | 4 |
| 7-107114653-T-C | c.148T>C | p.L50= | Synonymous | 3/3 | - | 1 |
| 7-107114661-T-C | c.156T>C | p.I52= | Synonymous | 3/3 | - | 2 |
| 7-107114663-T-A | c.158T>A | p.V53E | Missense | 3/3 | - | 1 |
| 7-107114673-T-A | c.168T>A | p.L56= | Synonymous | 3/3 | - | 1 |
| 7-107114673-T-C | c.168T>C | p.L56= | Synonymous | 3/3 | - | 2 |
| 7-107114673-T-G | c.168T>G | p.L56= | Synonymous | 3/3 | - | 1 |
| 7-107114677-A-G | c.172A>G | p.S58G | Missense | 3/3 | - | 2 |
| 7-107114682-C-A | c.177C>A | p.N59K | Missense | 3/3 | - | 1 |
| 7-107114682-C-G | c.177C>G | p.N59K | Missense | 3/3 | - | 1 |
| 7-107114687-C-T | c.182C>T | p.T61I | Missense | 3/3 | - | 1 |
| 7-107114692-T-G | c.187T>G | p.L63V | Missense | 3/3 | - | 1 |
| 7-107114695-G-T | c.190G>T | p.V64L | Missense | 3/3 | - | 1 |
| 7-107114721-A-C | c.216A>C | p.L72F | Missense | 3/3 | - | 3 |
| 7-107114721-A-T | c.216A>T | p.L72F | Missense | 3/3 | - | 4 |
| 7-107114724-C-T | c.219C>T | p.I73= | Synonymous | 3/3 | - | 1 |
| 7-107114733-C-T | c.228C>T | p.V76= | Synonymous | 3/3 | - | 1 |
| 7-107114751-G-A | c.246G>A | p.M82I | Missense | 3/3 | - | 3 |
| 7-107114751-G-C | c.246G>C | p.M82I | Missense | 3/3 | - | 3 |
| 7-107114751-G-T | c.246G>T | p.M82I | Missense | 3/3 | - | 3 |
| 7-107114753-A-G | c.248A>G | p.N83S | Missense | 3/3 | - | 2 |
| 7-107114757-T-A | c.252T>A | p.L84= | Synonymous | 3/3 | - | 3 |
| 7-107114757-T-C | c.252T>C | p.L84= | Synonymous | 3/3 | - | 3 |
| 7-107114757-T-G | c.252T>G | p.L84= | Synonymous | 3/3 | - | 7 |
| 7-107114759-A-G | c.254A>G | p.H85R | Missense | 3/3 | - | 1 |
| 7-107114763-A-C | c.258A>C | p.V86= | Synonymous | 3/3 | - | 2 |
| 7-107114763-A-G | c.258A>G | p.V86= | Synonymous | 3/3 | - | 2 |
| 7-107114763-A-T | c.258A>T | p.V86= | Synonymous | 3/3 | - | 2 |
| 7-107114765-T-G | c.260T>G | p.L87R | Missense | 3/3 | - | 1 |
| 7-107114772-A-C | c.267A>C | p.V89= | Synonymous | 3/3 | - | 1 |
| 7-107114777-T-G | c.272T>G | p.I91S | Missense | 3/3 | - | 4 |
| 7-107114794-C-A | c.289C>A | p.P97T | Missense | 3/3 | - | 1 |
| 7-107114794-C-T | c.289C>T | p.P97S | Missense | 3/3 | - | 1 |
| 7-107114796-T-A | c.291T>A | p.P97= | Synonymous | 3/3 | - | 1 |
| 7-107114798-TA-T | c.295del | p.T99Lfs*2 | Frameshift | 3/3 | - | 1 |
| 7-107114806-G-A | c.301G>A | p.V101I | Missense | 3/3 | - | 2 |
| 7-107114811-CC-AT | c.306_307delinsAT | p.L103F | Missense | 3/3 | - | 1 |
| 7-107114812-C-T | c.307C>T | p.L103F | Missense | 3/3 | - | 2 |
| 7-107114823-A-C | c.318A>C | p.S106= | Synonymous | 3/3 | - | 1 |
| 7-107114823-A-G | c.318A>G | p.S106= | Synonymous | 3/3 | - | 1 |
| 7-107114823-A-T | c.318A>T | p.S106= | Synonymous | 3/3 | - | 1 |
| 7-107114845-A-AG | c.340_341insG | p.I114Sfs*6 | Frameshift | 3/3 | - | 1 |
| 7-107114847-T-C | c.342T>C | p.I114= | Synonymous | 3/3 | - | 1 |
| 7-107114850-C-T | c.345C>T | p.C115= | Synonymous | 3/3 | - | 1 |
| 7-107114853-T-C | c.348T>C | p.C116= | Synonymous | 3/3 | - | 3 |
| 7-107114860-G-A | c.355G>A | p.E119K | Missense | 3/3 | - | 3 |
| 7-107114861-A-G | c.356A>G | p.E119G | Missense | 3/3 | - | 3 |
| 7-107114862-G-A | c.357G>A | p.E119= | Synonymous | 3/3 | - | 1 |
| 7-107114876-T-C | c.371T>C | p.F124S | Missense | 3/3 | - | 1 |
| 7-107114882-G-C | c.377G>C | p.S126T | Missense | 3/3 | - | 1 |
| 7-107114884-G-C | c.379G>C | p.V127L | Missense | 3/3 | - | 1 |
| 7-107114890-A-T | c.385A>T | p.T129S | Missense | 3/3 | - | 1 |
| 7-107114901-C-T | c.396C>T | p.N132= | Synonymous | 3/3 | - | 1 |
| 7-107114902-G-GT | c.402dup | p.A135Cfs*8 | Frameshift | 3/3 | - | 2 |
| 7-107114911-A-G | c.406A>G | p.I136V | Missense | 3/3 | - | 1 |
| 7-107114915-C-A | c.410C>A | p.T137N | Missense | 3/3 | - | 1 |
| 7-107114933-T-C | c.428T>C | p.I143T | Missense | 3/3 | - | 1 |
| 7-107114936-C-T | c.431C>T | p.S144F | Missense | 3/3 | - | 1 |
| 7-107114944-C-T | c.439C>T | p.P147S | Missense | 3/3 | - | 1 |
| 7-107114948-C-A | c.443C>A | p.A148E | Missense | 3/3 | - | 5 |
| 7-107114948-C-T | c.443C>T | p.A148V | Missense | 3/3 | - | 1 |
| 7-107114953-C-G | c.448C>G | p.R150G | Missense | 3/3 | - | 1 |
| 7-107114953-C-T | c.448C>T | p.R150* | Nonsense | 3/3 | - | 2 |
| 7-107114954-G-C | c.449G>C | p.R150P | Missense | 3/3 | - | 1 |
| 7-107114962-A-T | c.457A>T | p.T153S | Missense | 3/3 | - | 1 |
| 7-107114964-A-C | c.459A>C | p.T153= | Synonymous | 3/3 | - | 1 |
| 7-107114970-C-CAATATTTA | c.466_467insATATTTAA | p.R156Nfs*3 | Frameshift | 3/3 | - | 1 |
| 7-107114971-AGA-TGG | c.466_468delinsTGG | p.R156W | Missense | 3/3 | - | 1 |
| 7-107114972-G-T | c.467G>T | p.R156I | Missense | 3/3 | - | 1 |
| 7-107114974-G-A | c.469G>A | p.A157T | Missense | 3/3 | - | 1 |
| 7-107114981-T-C | c.476T>C | p.M159T | Missense | 3/3 | - | 2 |
| 7-107114983-T-C | c.478T>C | p.L160= | Synonymous | 3/3 | - | 2 |
| 7-107114985-A-G | c.480A>G | p.L160= | Synonymous | 3/3 | - | 3 |
| 7-107114988-G-A | c.483G>A | p.M161I | Missense | 3/3 | - | 2 |
| 7-107115000-G-T | c.495G>T | p.W165C | Missense | 3/3 | - | 1 |
| 7-107115001-A-AT | c.502dup | p.S168Ffs*11 | Frameshift | 3/3 | - | 4 |
| 7-107115008-C-T | c.503C>T | p.S168F | Missense | 3/3 | - | 1 |
| 7-107115010-T-C | c.505T>C | p.F169L | Missense | 3/3 | - | 1 |
| 7-107115012-T-A | c.507T>A | p.F169L | Missense | 3/3 | - | 1 |
| 7-107115012-T-G | c.507T>G | p.F169L | Missense | 3/3 | - | 1 |
| 7-107115012-T-C | c.507T>C | p.F169= | Synonymous | 3/3 | - | 1 |
| 7-107115008-CT-C | c.509del | p.F170Sfs*4 | Frameshift | 3/3 | - | 1 |
| 7-107115025-A-T | c.520A>T | p.I174F | Missense | 3/3 | - | 1 |
| 7-107115037-G-A | c.532G>A | p.E178K | Missense | 3/3 | - | 2 |
| 7-107115055-C-G | c.550C>G | p.L184V | Missense | 3/3 | - | 1 |
| 7-107115076-G-A | c.571G>A | p.E191K | Missense | 3/3 | - | 4 |
| 7-107115076-G-C | c.571G>C | p.E191Q | Missense | 3/3 | - | 1 |
| 7-107115078-A-G | c.573A>G | p.E191= | Synonymous | 3/3 | - | 1 |
| 7-107115085-A-G | c.580A>G | p.T194A | Missense | 3/3 | - | 1 |
| 7-107115089-T-A | c.584T>A | p.L195H | Missense | 3/3 | - | 3 |
| 7-107115091-T-C | c.586T>C | p.L196= | Synonymous | 3/3 | - | 1 |
| 7-107115101-G-A | c.596G>A | p.S199N | Missense | 3/3 | - | 1 |
| 7-107115109-G-A | c.604G>A | p.E202K | Missense | 3/3 | - | 1 |
| 7-107115111-A-T | c.606A>T | p.E202D | Missense | 3/3 | - | 1 |
| 7-107115135-T-A | c.630T>A | p.Y210* | Nonsense | 3/3 | - | 2 |
| 7-107115135-T-G | c.630T>G | p.Y210* | Nonsense | 3/3 | - | 1 |
| 7-107115138-T-A | c.633T>A | p.Y211* | Nonsense | 3/3 | - | 1 |
| 7-107115146-TTA-T | c.641_642del | p.L214Cfs*25 | Frameshift | 3/3 | - | 3 |
| 7-107115200-C-A | c.695C>A | p.T232N | Missense | 3/3 | - | 4 |
| 7-107115200-C-T | c.695C>T | p.T232I | Missense | 3/3 | - | 1 |
| 7-107115210-T-C | c.705T>C | p.L235= | Synonymous | 3/3 | - | 1 |
| 7-107115211-C-G | c.706C>G | p.Q236E | Missense | 3/3 | - | 1 |
| 7-107115216-T-A | c.711T>A | p.A237= | Synonymous | 3/3 | - | 1 |
| 7-107115216-T-C | c.711T>C | p.A237= | Synonymous | 3/3 | - | 1 |
| 7-107115216-T-G | c.711T>G | p.A237= | Synonymous | 3/3 | - | 1 |
| 7-107115227-G-A | c.722G>A | p.R241Q | Missense | 3/3 | - | 2 |
| 7-107115227-G-T | c.722G>T | p.R241L | Missense | 3/3 | - | 1 |
| 7-107115230-T-C | c.725T>C | p.I242T | Missense | 3/3 | - | 3 |
| 7-107115233-G-A | c.728G>A | p.G243D | Missense | 3/3 | - | 1 |
| 7-107115239-G-A | c.734G>A | p.R245K | Missense | 3/3 | - | 5 |
| 7-107115245-C-A | c.740C>A | p.S247* | Nonsense | 3/3 | - | 2 |
| 7-107115245-C-G | c.740C>G | p.S247* | Nonsense | 3/3 | - | 1 |
| 7-107115250-G-A | c.745G>A | p.G249R | Missense | 3/3 | - | 1 |
| 7-107115251-G-C | c.746G>C | p.G249A | Missense | 3/3 | - | 1 |
| 7-107115253-C-A | c.748C>A | p.Q250K | Missense | 3/3 | - | 7 |
| 7-107115256-A-G | c.751A>G | p.K251E | Missense | 3/3 | - | 1 |
| 7-107115258-G-A | c.753G>A | p.K251= | Synonymous | 3/3 | - | 2 |
| 7-107115262-A-C | c.757A>C | p.K253Q | Missense | 3/3 | - | 1 |
| 7-107115282-A-C | c.777A>C | p.T259= | Synonymous | 3/3 | - | 1 |
| 7-107115282-A-G | c.777A>G | p.T259= | Synonymous | 3/3 | - | 2 |
| 7-107115282-A-T | c.777A>T | p.T259= | Synonymous | 3/3 | - | 1 |
| 7-107115287-C-A | c.782C>A | p.S261Y | Missense | 3/3 | - | 5 |
| 7-107115306-G-C | c.801G>C | p.E267D | Missense | 3/3 | - | 3 |
| 7-107115306-G-T | c.801G>T | p.E267D | Missense | 3/3 | - | 3 |
| 7-107115313-G-A | c.808G>A | p.D270N | Missense | 3/3 | - | 1 |
| 7-107115320-C-T | c.815C>T | p.S272L | Missense | 3/3 | - | 2 |
| 7-107115327-C-A | c.822C>A | p.S274R | Missense | 3/3 | - | 1 |
| 7-107115332-G-A | c.827G>A | p.G276D | Missense | 3/3 | - | 2 |
| 7-107115334-G-T | c.829G>T | p.G277W | Missense | 3/3 | - | 1 |
| 7-107115338-G-T | c.833G>T | p.R278I | Missense | 3/3 | - | 2 |
| 7-107115339-A-C | c.834A>C | p.R278S | Missense | 3/3 | - | 1 |
| 7-107115339-A-T | c.834A>T | p.R278S | Missense | 3/3 | - | 1 |
| 7-107115349-T-G | c.844T>G | p.F282V | Missense | 3/3 | - | 1 |
| 7-107115358-AG-GC | c.853_854delinsGC | p.R285A | Missense | 3/3 | - | 1 |
| 7-107115359-G-A | c.854G>A | p.R285K | Missense | 3/3 | - | 1 |
| 7-107115362-C-A | c.857C>A | p.T286N | Missense | 3/3 | - | 1 |
| 7-107115363-T-A | c.858T>A | p.T286= | Synonymous | 3/3 | - | 1 |
| 7-107115363-T-C | c.858T>C | p.T286= | Synonymous | 3/3 | - | 1 |
| 7-107115363-T-G | c.858T>G | p.T286= | Synonymous | 3/3 | - | 1 |
| 7-107115365-C-T | c.860C>T | p.S287L | Missense | 3/3 | - | 1 |
| 7-107115366-A-G | c.861A>G | p.S287= | Synonymous | 3/3 | - | 1 |
| 7-107115371-C-A | c.866C>A | p.S289Y | Missense | 3/3 | - | 1 |
| 7-107115388-C-T | c.883C>T | p.R295W | Missense | 3/3 | - | 1 |
| 7-107115389-G-A | c.884G>A | p.R295Q | Missense | 3/3 | - | 2 |
| 7-107115390-G-A | c.885G>A | p.R295= | Synonymous | 3/3 | - | 1 |
| 7-107115390-G-T | c.885G>T | p.R295= | Synonymous | 3/3 | - | 1 |
| 7-107115391-C-A | c.886C>A | p.R296= | Synonymous | 3/3 | - | 1 |
| 7-107115391-C-T | c.886C>T | p.R296* | Nonsense | 3/3 | - | 1 |
| 7-107115393-A-C | c.888A>C | p.R296= | Synonymous | 3/3 | - | 1 |
| 7-107115393-A-G | c.888A>G | p.R296= | Synonymous | 3/3 | - | 1 |
| 7-107115393-A-T | c.888A>T | p.R296= | Synonymous | 3/3 | - | 1 |
| 7-107115392-G-A | c.887G>A | p.R296Q | Missense | 3/3 | - | 2 |
| 7-107115396-T-C | c.891T>C | p.A297= | Synonymous | 3/3 | - | 1 |
| 7-107115399-G-A | c.894G>A | p.V298= | Synonymous | 3/3 | - | 1 |
| 7-107115402-A-G | c.897A>G | p.K299= | Synonymous | 3/3 | - | 2 |
| 7-107115403-C-T | c.898C>T | p.R300* | Nonsense | 3/3 | - | 3 |
| 7-107115404-G-A | c.899G>A | p.R300Q | Missense | 3/3 | - | 2 |
| 7-107115408-C-A | c.903C>A | p.H301Q | Missense | 3/3 | - | 1 |
| 7-107115408-C-G | c.903C>G | p.H301Q | Missense | 3/3 | - | 1 |
| 7-107115409-C-A | c.904C>A | p.R302S | Missense | 3/3 | - | 1 |
| 7-107115415-C-T | c.910C>T | p.R304* | Nonsense | 3/3 | - | 1 |
| 7-107115416-G-A | c.911G>A | p.R304Q | Missense | 3/3 | - | 1 |
| 7-107115422-A-G | c.917A>G | p.E306G | Missense | 3/3 | - | 2 |
| 7-107115426-A-C | c.921A>C | p.R307S | Missense | 3/3 | - | 5 |
| 7-107115426-A-T | c.921A>T | p.R307S | Missense | 3/3 | - | 1 |
| 7-107115428-A-T | c.923A>T | p.Q308L | Missense | 3/3 | - | 1 |
| 7-107115432-G-A | c.927G>A | p.K309= | Synonymous | 3/3 | - | 2 |
| 7-107115443-G-A | c.938G>A | p.R313K | Missense | 3/3 | - | 1 |
| 7-107115447-G-A | c.942G>A | p.M314I | Missense | 3/3 | - | 3 |
| 7-107115447-G-C | c.942G>C | p.M314I | Missense | 3/3 | - | 3 |
| 7-107115447-G-T | c.942G>T | p.M314I | Missense | 3/3 | - | 3 |
| 7-107115448-T-C | c.943T>C | p.S315P | Missense | 3/3 | - | 3 |
| 7-107115449-CTT-C | c.946_947del | p.L316Ifs*27 | Frameshift | 3/3 | - | 1 |
| 7-107115451-T-C | c.946T>C | p.L316= | Synonymous | 3/3 | - | 1 |
| 7-107115453-A-G | c.948A>G | p.L316= | Synonymous | 3/3 | - | 1 |
| 7-107115455-T-A | c.950T>A | p.L317* | Nonsense | 3/3 | - | 1 |
| 7-107115456-G-A | c.951G>A | p.L317= | Synonymous | 3/3 | - | 1 |
| 7-107115465-T-A | c.960T>A | p.S320= | Synonymous | 3/3 | - | 2 |
| 7-107115465-T-C | c.960T>C | p.S320= | Synonymous | 3/3 | - | 1 |
| 7-107115465-T-G | c.960T>G | p.S320= | Synonymous | 3/3 | - | 1 |
| 7-107115467-C-CG | c.962_963insG | p.F322Ifs*22 | Frameshift | 3/3 | - | 1 |
| 7-107115470-T-G | c.965T>G | p.F322C | Missense | 3/3 | - | 1 |
| 7-107115480-C-T | c.975C>T | p.C325= | Synonymous | 3/3 | - | 1 |
| 7-107115482-G-A | c.977G>A | p.W326* | Nonsense | 3/3 | - | 1 |
| 7-107115483-G-A | c.978G>A | p.W326* | Nonsense | 3/3 | - | 2 |
| 7-107115487-C-T | c.982C>T | p.P328S | Missense | 3/3 | - | 1 |
| 7-107115491-T-C | c.986T>C | p.I329T | Missense | 3/3 | - | 1 |
| 7-107115495-T-A | c.990T>A | p.S330= | Synonymous | 3/3 | - | 1 |
| 7-107115505-A-G | c.1000A>G | p.T334A | Missense | 3/3 | - | 1 |
| 7-107115512-T-C | c.1007T>C | p.I336T | Missense | 3/3 | - | 1 |
| 7-107115514-T-C | c.1009T>C | p.L337= | Synonymous | 3/3 | - | 3 |
| 7-107115520-T-G | c.1015T>G | p.L339V | Missense | 3/3 | - | 5 |
| 7-107115523-G-T | c.1018G>T | p.G340C | Missense | 3/3 | - | 1 |
| 7-107115532-G-A | c.1027G>A | p.D343N | Missense | 3/3 | - | 1 |
| 7-107115535-C-CT | c.1034dup | p.L345Ffs*27 | Frameshift | 3/3 | - | 2 |
| 7-107115541-G-A | c.1036G>A | p.V346I | Missense | 3/3 | - | 2 |
| 7-107115555-G-C | c.1050G>C | p.L350F | Missense | 3/3 | - | 1 |
| 7-107115562-T-TAA | c.1057_1058insAA | p.L353* | Nonsense | 3/3 | - | 1 |
| 7-107115557-GT-G | c.1058del | p.L353* | Frameshift | 3/3 | - | 1 |
| 7-107115563-T-A | c.1058T>A | p.L353* | Nonsense | 3/3 | - | 4 |
| 7-107115563-T-C | c.1058T>C | p.L353S | Missense | 3/3 | - | 1 |
| 7-107115563-T-G | c.1058T>G | p.L353* | Nonsense | 3/3 | - | 4 |
| 7-107115571-G-A | c.1066G>A | p.A356T | Missense | 3/3 | - | 5 |
| 7-107115572-C-A | c.1067C>A | p.A356D | Missense | 3/3 | - | 3 |
| 7-107115574-T-A | c.1069T>A | p.Y357N | Missense | 3/3 | - | 3 |
| 7-107115577-G-A | c.1072G>A | p.G358R | Missense | 3/3 | - | 2 |
| 7-107115577-G-C | c.1072G>C | p.G358R | Missense | 3/3 | - | 1 |
| 7-107115578-G-A | c.1073G>A | p.G358E | Missense | 3/3 | - | 4 |
| 7-107115586-A-C | c.1081A>C | p.I361L | Missense | 3/3 | - | 2 |
| 7-107115586-A-T | c.1081A>T | p.I361L | Missense | 3/3 | - | 1 |
| 7-107115587-T-C | c.1082T>C | p.I361T | Missense | 3/3 | - | 2 |
| 7-107115596-C-A | c.1091C>A | p.P364H | Missense | 3/3 | - | 1 |
| 7-107115596-C-T | c.1091C>T | p.P364L | Missense | 3/3 | - | 1 |
| 7-107115599-T-A | c.1094T>A | p.L365Q | Missense | 3/3 | - | 1 |
| 7-107115607-G-A | c.1102G>A | p.A368T | Missense | 3/3 | - | 1 |
| 7-107115608-C-A | c.1103C>A | p.A368E | Missense | 3/3 | - | 2 |
| 7-107115611-T-A | c.1106T>A | p.F369Y | Missense | 3/3 | - | 1 |
| 7-107115611-T-C | c.1106T>C | p.F369S | Missense | 3/3 | - | 1 |
| 7-107115617-G-A | c.1112G>A | p.R371K | Missense | 3/3 | - | 1 |
| 7-107115625-T-C | c.1120T>C | p.F374L | Missense | 3/3 | - | 1 |
| 7-107115627-T-A | c.1122T>A | p.F374L | Missense | 3/3 | - | 1 |
| 7-107115627-T-G | c.1122T>G | p.F374L | Missense | 3/3 | - | 1 |
| 7-107115626-T-G | c.1121T>G | p.F374C | Missense | 3/3 | - | 1 |
| 7-107115634-G-A | c.1129G>A | p.V377I | Missense | 3/3 | - | 1 |
| 7-107115639-G-T | c.1134G>T | p.L378F | Missense | 3/3 | - | 1 |
| 7-107115648-A-G | c.1143A>G | p.K381= | Synonymous | 3/3 | - | 1 |
| 7-107115654-A-AT | c.1149_1150insT | p.K384* | Nonsense | 3/3 | - | 1 |
| 7-107115658-C-T | c.1153C>T | p.R385* | Nonsense | 3/3 | - | 3 |
| 7-107115659-G-A | c.1154G>A | p.R385Q | Missense | 3/3 | - | 1 |
| 7-107115664-G-A | c.1159G>A | p.V387I | Missense | 3/3 | - | 4 |
| 7-107115668-C-T | c.1163C>T | p.S388F | Missense | 3/3 | - | 1 |
| 7-107115670-A-G | c.1165A>G | p.I389V | Missense | 3/3 | - | 1 |
| 7-107115675-A-T | c.1170A>T | p.V390= | Synonymous | 3/3 | - | 1 |
| 7-107115676-G-A | c.1171G>A | p.E391K | Missense | 3/3 | - | 3 |
| 7-107115680-C-A | c.1175C>A | p.A392D | Missense | 3/3 | - | 1 |
| 7-107115680-C-T | c.1175C>T | p.A392V | Missense | 3/3 | - | 2 |
| 7-107115687-C-A | c.1182C>A | p.P394= | Synonymous | 3/3 | - | 1 |
| 7-107115687-C-G | c.1182C>G | p.P394= | Synonymous | 3/3 | - | 1 |
| 7-107115687-C-T | c.1182C>T | p.P394= | Synonymous | 3/3 | - | 1 |
| 7-107115688-C-A | c.1183C>A | p.L395M | Missense | 3/3 | - | 1 |
| 7-107115693-T-A | c.1188T>A | p.P396= | Synonymous | 3/3 | - | 1 |
| 7-107115693-T-C | c.1188T>C | p.P396= | Synonymous | 3/3 | - | 1 |
| 7-107115693-T-G | c.1188T>G | p.P396= | Synonymous | 3/3 | - | 1 |
| 7-107115694-A-G | c.1189A>G | p.N397D | Missense | 3/3 | - | 2 |
| 7-107115711-C-A | c.1206C>A | p.H402Q | Missense | 3/3 | - | 1 |
| 7-107115711-C-G | c.1206C>G | p.H402Q | Missense | 3/3 | - | 1 |
| 7-107115717-T-A | c.1212T>A | p.S404= | Synonymous | 3/3 | - | 1 |
| 7-107115720-G-A | c.1215G>A | p.W405* | Nonsense | 3/3 | - | 2 |
| 7-107115724-G-A | c.1219G>A | p.D407N | Missense | 3/3 | - | 1 |
| 7-107115727-C-A | c.1222C>A | p.P408T | Missense | 3/3 | - | 1 |
| 7-107115728-C-A | c.1223C>A | p.P408H | Missense | 3/3 | - | 1 |
| 7-107115734-G-A | c.1229G>A | p.R410K | Missense | 3/3 | - | 3 |
| 7-107115738-C-A | c.1233C>A | p.N411K | Missense | 3/3 | - | 1 |
| 7-107115741-A-AT | c.1236_1237insT | p.K413* | Nonsense | 3/3 | - | 1 |
| 7-107115738-C-CA | c.1240dup | p.I414Nfs*4 | Frameshift | 3/3 | - | 5 |
| 7-107115746-T-A | c.1241T>A | p.I414N | Missense | 3/3 | - | 1 |
| 7-107115750-C-G | c.1245C>G | p.T415= | Synonymous | 3/3 | - | 1 |
| 7-107115751-T-C | c.1246T>C | p.F416L | Missense | 3/3 | - | 3 |
| 7-107115753-T-A | c.1248T>A | p.F416L | Missense | 3/3 | - | 4 |
| 7-107115753-T-G | c.1248T>G | p.F416L | Missense | 3/3 | - | 3 |
| 7-107115768-A-C | c.1263A>C | p.I421= | Synonymous | 3/3 | - | 1 |
| 7-107115768-A-T | c.1263A>T | p.I421= | Synonymous | 3/3 | - | 1 |
| 7-107115779-G-A | c.1274G>A | p.C425Y | Missense | 3/3 | - | 1 |
| 7-107115790-C-T | c.1285C>T | p.Q429* | Nonsense | 3/3 | - | 1 |
| 7-107115800-C-T | c.1295C>T | p.T432I | Missense | 3/3 | - | 1 |