Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
5-148971305-A-C | c.-11-6017A>C | - | IntronicSNV | - | 1/12 | 1 |
5-148971305-A-G | c.-11-6017A>G | - | IntronicSNV | - | 1/12 | 1 |
5-148977233-C-T | c.-11-89C>T | - | IntronicSNV | - | 1/12 | 1 |
5-148977346-G-T | c.14G>T | p.G5V | Missense | 2/13 | - | 1 |
5-148977354-G-A | c.22G>A | p.E8K | Missense | 2/13 | - | 1 |
5-148977360-T-A | c.28T>A | p.S10T | Missense | 2/13 | - | 1 |
5-148977361-C-T | c.29C>T | p.S10F | Missense | 2/13 | - | 1 |
5-148977362-C-A | c.30C>A | p.S10= | Synonymous | 2/13 | - | 3 |
5-148977362-C-G | c.30C>G | p.S10= | Synonymous | 2/13 | - | 3 |
5-148977362-C-T | c.30C>T | p.S10= | Synonymous | 2/13 | - | 3 |
5-148977365-C-A | c.33C>A | p.S11= | Synonymous | 2/13 | - | 1 |
5-148977365-C-G | c.33C>G | p.S11= | Synonymous | 2/13 | - | 1 |
5-148977365-C-T | c.33C>T | p.S11= | Synonymous | 2/13 | - | 1 |
5-148977366-A-T | c.34A>T | p.R12W | Missense | 2/13 | - | 1 |
5-148977368-G-C | c.36G>C | p.R12S | Missense | 2/13 | - | 1 |
5-148977368-G-T | c.36G>T | p.R12S | Missense | 2/13 | - | 1 |
5-148977374-G-A | c.42G>A | p.G14= | Synonymous | 2/13 | - | 1 |
5-148977381-G-A | c.49G>A | p.D17N | Missense | 2/13 | - | 1 |
5-148977382-A-G | c.50A>G | p.D17G | Missense | 2/13 | - | 1 |
5-148977384-A-G | c.52A>G | p.R18G | Missense | 2/13 | - | 1 |
5-148977393-A-C | c.61A>C | p.R21= | Synonymous | 2/13 | - | 1 |
5-148977395-G-A | c.63G>A | p.R21= | Synonymous | 2/13 | - | 1 |
5-148977402-G-A | c.70G>A | p.E24K | Missense | 2/13 | - | 1 |
5-148977411-T-C | c.79T>C | p.S27P | Missense | 2/13 | - | 1 |
5-148977413-G-A | c.81G>A | p.S27= | Synonymous | 2/13 | - | 2 |
5-148977413-G-C | c.81G>C | p.S27= | Synonymous | 2/13 | - | 1 |
5-148977413-G-T | c.81G>T | p.S27= | Synonymous | 2/13 | - | 1 |
5-148977414-CT-TC | c.82_83delinsTC | p.L28S | Missense | 2/13 | - | 1 |
5-148977423-C-T | c.91C>T | p.Q31* | Nonsense | 2/13 | - | 1 |
5-148977433-C-T | c.101C>T | p.A34V | Missense | 2/13 | - | 1 |
5-148977438-C-T | c.106C>T | p.R36W | Missense | 2/13 | - | 2 |
5-148977439-G-A | c.107G>A | p.R36Q | Missense | 2/13 | - | 1 |
5-148977443-G-A | c.111G>A | p.E37= | Synonymous | 2/13 | - | 1 |
5-148977463-CC-GG | c.131_132inv | p.S44W | Missense | 2/13 | - | 1 |
5-148977474-A-T | c.142A>T | p.M48L | Missense | 2/13 | - | 1 |
5-148977477-C-A | c.145C>A | p.L49I | Missense | 2/13 | - | 2 |
5-148977490-C-T | c.158C>T | p.A53V | Missense | 2/13 | - | 1 |
5-148977492-TC-CT | c.160_161delinsCT | p.S54L | Missense | 2/13 | - | 1 |
5-148977493-C-G | c.161C>G | p.S54C | Missense | 2/13 | - | 5 |
5-148977501-A-G | c.169A>G | p.R57G | Missense | 2/13 | - | 1 |
5-148977507-C-T | c.175C>T | p.R59C | Missense | 2/13 | - | 3 |
5-148977508-G-A | c.176G>A | p.R59H | Missense | 2/13 | - | 4 |
5-148977513-C-A | c.181C>A | p.Q61K | Missense | 2/13 | - | 1 |
5-148977515-G-C | c.183G>C | p.Q61H | Missense | 2/13 | - | 1 |
5-148977519-G-A | c.186+1G>A | - | IntronicSNV | - | 2/12 | 2 |
5-148977613-C-G | c.186+95C>G | - | IntronicSNV | - | 2/12 | 2 |
5-148977613-C-T | c.186+95C>T | - | IntronicSNV | - | 2/12 | 5 |
5-148977829-T-C | c.186+311T>C | - | IntronicSNV | - | 2/12 | 1 |
5-148977826-CTCT-C | c.186+370_186+372del | - | IntronicDeletion | - | 2/12 | 1 |
5-148977945-T-C | c.186+427T>C | - | IntronicSNV | - | 2/12 | 1 |
5-148978105-T-C | c.186+587T>C | - | IntronicSNV | - | 2/12 | 1 |
5-148978107-A-G | c.186+589A>G | - | IntronicSNV | - | 2/12 | 1 |
5-148978107-A-T | c.186+589A>T | - | IntronicSNV | - | 2/12 | 1 |
5-148978877-G-A | c.186+1359G>A | - | IntronicSNV | - | 2/12 | 1 |
5-148980452-A-G | c.187-219A>G | - | IntronicSNV | - | 2/12 | 1 |
5-148980674-C-T | c.190C>T | p.P64S | Missense | 3/13 | - | 2 |
5-148980675-C-G | c.191C>G | p.P64R | Missense | 3/13 | - | 1 |
5-148980675-C-T | c.191C>T | p.P64L | Missense | 3/13 | - | 1 |
5-148980676-G-A | c.192G>A | p.P64= | Synonymous | 3/13 | - | 1 |
5-148980676-G-C | c.192G>C | p.P64= | Synonymous | 3/13 | - | 1 |
5-148980676-G-T | c.192G>T | p.P64= | Synonymous | 3/13 | - | 1 |
5-148980685-T-A | c.201T>A | p.D67E | Missense | 3/13 | - | 1 |
5-148980685-T-G | c.201T>G | p.D67E | Missense | 3/13 | - | 1 |
5-148980686-C-G | c.202C>G | p.L68V | Missense | 3/13 | - | 1 |
5-148980692-G-A | c.208G>A | p.V70I | Missense | 3/13 | - | 1 |
5-148980702-C-T | c.218C>T | p.S73L | Missense | 3/13 | - | 1 |
5-148980713-G-A | c.229G>A | p.D77N | Missense | 3/13 | - | 1 |
5-148980717-T-C | c.233T>C | p.I78T | Missense | 3/13 | - | 1 |
5-148980729-A-G | c.245A>G | p.N82S | Missense | 3/13 | - | 2 |
5-148980746-G-A | c.262G>A | p.D88N | Missense | 3/13 | - | 1 |
5-148980748-T-A | c.264T>A | p.D88E | Missense | 3/13 | - | 1 |
5-148980748-T-G | c.264T>G | p.D88E | Missense | 3/13 | - | 1 |
5-148980752-C-A | c.268C>A | p.Q90K | Missense | 3/13 | - | 2 |
5-148980761-G-T | c.277G>T | p.A93S | Missense | 3/13 | - | 1 |
5-148980762-C-A | c.278C>A | p.A93D | Missense | 3/13 | - | 1 |
5-148980764-T-C | c.280T>C | p.S94P | Missense | 3/13 | - | 1 |
5-148980765-C-T | c.281C>T | p.S94F | Missense | 3/13 | - | 1 |
5-148980766-C-CT | c.282_283insT | p.K95* | Nonsense | 3/13 | - | 1 |
5-148980767-A-C | c.283A>C | p.K95Q | Missense | 3/13 | - | 1 |
5-148980769-G-C | c.285G>C | p.K95N | Missense | 3/13 | - | 1 |
5-148980769-G-T | c.285G>T | p.K95N | Missense | 3/13 | - | 1 |
5-148980771-A-G | c.287A>G | p.E96G | Missense | 3/13 | - | 1 |
5-148980775-G-C | c.291G>C | p.E97D | Missense | 3/13 | - | 1 |
5-148980775-G-T | c.291G>T | p.E97D | Missense | 3/13 | - | 1 |
5-148980778-A-G | c.294A>G | p.E98= | Synonymous | 3/13 | - | 1 |
5-148980779-C-A | c.295C>A | p.Q99K | Missense | 3/13 | - | 1 |
5-148980800-GC-G | c.310+6del | - | IntronicDeletion | - | 3/12 | 1 |
5-148980828-G-A | c.310+34G>A | - | IntronicSNV | - | 3/12 | 1 |
5-148981046-T-C | c.310+252T>C | - | IntronicSNV | - | 3/12 | 2 |
5-148985791-C-T | c.311-3320C>T | - | IntronicSNV | - | 3/12 | 1 |
5-148985999-G-A | c.311-3112G>A | - | IntronicSNV | - | 3/12 | 1 |
5-148986244-G-C | c.311-2867G>C | - | IntronicSNV | - | 3/12 | 1 |
5-148986376-C-G | c.311-2735C>G | - | IntronicSNV | - | 3/12 | 1 |
5-148987086-G-A | c.311-2025G>A | - | IntronicSNV | - | 3/12 | 1 |
5-148987859-A-C | c.311-1252A>C | - | IntronicSNV | - | 3/12 | 1 |
5-148989122-C-T | c.322C>T | p.L108= | Synonymous | 4/13 | - | 17 |
5-148989124-G-A | c.324G>A | p.L108= | Synonymous | 4/13 | - | 3 |
5-148989124-G-C | c.324G>C | p.L108= | Synonymous | 4/13 | - | 3 |
5-148989124-G-T | c.324G>T | p.L108= | Synonymous | 4/13 | - | 3 |
5-148989125-G-A | c.325G>A | p.E109K | Missense | 4/13 | - | 1 |
5-148989131-C-T | c.331C>T | p.Q111* | Nonsense | 4/13 | - | 6 |
5-148989133-A-T | c.333A>T | p.Q111H | Missense | 4/13 | - | 1 |
5-148989138-A-T | c.338A>T | p.E113V | Missense | 4/13 | - | 1 |
5-148989151-C-A | c.351C>A | p.V117= | Synonymous | 4/13 | - | 1 |
5-148989151-C-G | c.351C>G | p.V117= | Synonymous | 4/13 | - | 1 |
5-148989151-C-T | c.351C>T | p.V117= | Synonymous | 4/13 | - | 1 |
5-148989158-GTC-ATG | c.358_360delinsATG | p.V120M | Missense | 4/13 | - | 1 |
5-148989170-A-C | c.370A>C | p.S124R | Missense | 4/13 | - | 1 |
5-148989175-C-T | c.375C>T | p.Y125= | Synonymous | 4/13 | - | 1 |
5-148989176-G-A | c.376G>A | p.D126N | Missense | 4/13 | - | 1 |
5-148989177-A-C | c.377A>C | p.D126A | Missense | 4/13 | - | 1 |
5-148989180-A-C | c.380A>C | p.Q127P | Missense | 4/13 | - | 1 |
5-148989180-A-G | c.380A>G | p.Q127R | Missense | 4/13 | - | 1 |
5-148989191-C-T | c.391C>T | p.L131= | Synonymous | 4/13 | - | 1 |
5-148989199-C-T | c.399C>T | p.D133= | Synonymous | 4/13 | - | 1 |
5-148989201-C-T | c.401C>T | p.T134M | Missense | 4/13 | - | 2 |
5-148989205-C-G | c.405C>G | p.Y135* | Nonsense | 4/13 | - | 1 |
5-148989206-C-A | c.406C>A | p.R136= | Synonymous | 4/13 | - | 2 |
5-148989208-G-A | c.408G>A | p.R136= | Synonymous | 4/13 | - | 2 |
5-148989208-G-C | c.408G>C | p.R136= | Synonymous | 4/13 | - | 2 |
5-148989208-G-T | c.408G>T | p.R136= | Synonymous | 4/13 | - | 2 |
5-148989207-G-A | c.407G>A | p.R136Q | Missense | 4/13 | - | 3 |
5-148989210-A-T | c.410A>T | p.K137M | Missense | 4/13 | - | 2 |
5-148989212-G-A | c.412G>A | p.E138K | Missense | 4/13 | - | 5 |
5-148989214-G-C | c.414G>C | p.E138D | Missense | 4/13 | - | 2 |
5-148989214-G-T | c.414G>T | p.E138D | Missense | 4/13 | - | 3 |
5-148989215-C-T | c.415C>T | p.P139S | Missense | 4/13 | - | 1 |
5-148989216-C-T | c.416C>T | p.P139L | Missense | 4/13 | - | 4 |
5-148989217-G-A | c.417G>A | p.P139= | Synonymous | 4/13 | - | 5 |
5-148989217-G-C | c.417G>C | p.P139= | Synonymous | 4/13 | - | 2 |
5-148989217-G-T | c.417G>T | p.P139= | Synonymous | 4/13 | - | 2 |
5-148989226-G-A | c.426G>A | p.Q142= | Synonymous | 4/13 | - | 1 |
5-148989227-C-A | c.427C>A | p.R143= | Synonymous | 4/13 | - | 1 |
5-148989227-C-T | c.427C>T | p.R143W | Missense | 4/13 | - | 1 |
5-148989233-A-G | c.433A>G | p.I145V | Missense | 4/13 | - | 1 |
5-148989236-C-T | c.436C>T | p.Q146* | Nonsense | 4/13 | - | 2 |
5-148989239-G-A | c.439G>A | p.G147S | Missense | 4/13 | - | 1 |
5-148989240-G-A | c.440G>A | p.G147D | Missense | 4/13 | - | 2 |
5-148989245-G-A | c.445G>A | p.V149I | Missense | 4/13 | - | 3 |
5-148989248-G-T | c.448G>T | p.E150* | Nonsense | 4/13 | - | 2 |
5-148989252-C-G | c.452C>G | p.A151G | Missense | 4/13 | - | 1 |
5-148989252-C-T | c.452C>T | p.A151V | Missense | 4/13 | - | 1 |
5-148989253-G-A | c.453G>A | p.A151= | Synonymous | 4/13 | - | 1 |
5-148989253-G-C | c.453G>C | p.A151= | Synonymous | 4/13 | - | 1 |
5-148989253-G-T | c.453G>T | p.A151= | Synonymous | 4/13 | - | 2 |
5-148989254-G-A | c.454G>A | p.V152M | Missense | 4/13 | - | 1 |
5-148989254-GTG-TTT | c.454_456delinsTTT | p.V152F | Missense | 4/13 | - | 1 |
5-148989257-G-A | c.457G>A | p.V153M | Missense | 4/13 | - | 4 |
5-148989259-G-A | c.458+1G>A | - | IntronicSNV | - | 4/12 | 4 |
5-148989260-T-G | c.458+2T>G | - | IntronicSNV | - | 4/12 | 1 |
5-148989312-A-G | c.458+54A>G | - | IntronicSNV | - | 4/12 | 2 |
5-148989320-T-C | c.458+62T>C | - | IntronicSNV | - | 4/12 | 1 |
5-148989410-A-G | c.458+152A>G | - | IntronicSNV | - | 4/12 | 3 |
5-148989410-A-T | c.458+152A>T | - | IntronicSNV | - | 4/12 | 2 |
5-148995879-C-A | c.459-251C>A | - | IntronicSNV | - | 4/12 | 1 |
5-148995879-C-T | c.459-251C>T | - | IntronicSNV | - | 4/12 | 1 |
5-148996132-C-T | c.461C>T | p.P154L | Missense | 5/13 | - | 6 |
5-148996133-G-A | c.462G>A | p.P154= | Synonymous | 5/13 | - | 1 |
5-148996133-G-C | c.462G>C | p.P154= | Synonymous | 5/13 | - | 1 |
5-148996133-G-T | c.462G>T | p.P154= | Synonymous | 5/13 | - | 1 |
5-148996141-G-A | c.470G>A | p.G157E | Missense | 5/13 | - | 1 |
5-148996143-T-C | c.472T>C | p.S158P | Missense | 5/13 | - | 1 |
5-148996163-G-A | c.492G>A | p.L164= | Synonymous | 5/13 | - | 1 |
5-148996167-G-C | c.496G>C | p.V166L | Missense | 5/13 | - | 1 |
5-148996167-G-T | c.496G>T | p.V166L | Missense | 5/13 | - | 1 |
5-148996173-C-T | c.502C>T | p.P168S | Missense | 5/13 | - | 1 |
5-148996174-C-T | c.503C>T | p.P168L | Missense | 5/13 | - | 2 |
5-148996177-T-C | c.506T>C | p.L169P | Missense | 5/13 | - | 1 |
5-148996176-C-T | c.505C>T | p.L169= | Synonymous | 5/13 | - | 1 |
5-148996178-G-A | c.507G>A | p.L169= | Synonymous | 5/13 | - | 1 |
5-148996178-G-C | c.507G>C | p.L169= | Synonymous | 5/13 | - | 1 |
5-148996178-G-T | c.507G>T | p.L169= | Synonymous | 5/13 | - | 1 |
5-148996180-A-C | c.509A>C | p.Q170P | Missense | 5/13 | - | 1 |
5-148996182-A-T | c.511A>T | p.R171W | Missense | 5/13 | - | 2 |
5-148996183-G-T | c.512G>T | p.R171M | Missense | 5/13 | - | 1 |
5-148996197-C-T | c.526C>T | p.P176S | Missense | 5/13 | - | 1 |
5-148996202-G-A | c.531G>A | p.L177= | Synonymous | 5/13 | - | 1 |
5-148996206-C-T | c.535C>T | p.L179= | Synonymous | 5/13 | - | 1 |
5-148996208-G-A | c.537G>A | p.L179= | Synonymous | 5/13 | - | 1 |
5-148996208-G-C | c.537G>C | p.L179= | Synonymous | 5/13 | - | 1 |
5-148996208-G-T | c.537G>T | p.L179= | Synonymous | 5/13 | - | 1 |
5-148996221-G-C | c.550G>C | p.E184Q | Missense | 5/13 | - | 1 |
5-148996223-G-A | c.552G>A | p.E184= | Synonymous | 5/13 | - | 1 |
5-148996232-C-T | c.561C>T | p.V187= | Synonymous | 5/13 | - | 1 |
5-148996239-G-A | c.568G>A | p.A190T | Missense | 5/13 | - | 1 |
5-148996239-G-C | c.568G>C | p.A190P | Missense | 5/13 | - | 2 |
5-148996240-C-T | c.569C>T | p.A190V | Missense | 5/13 | - | 1 |
5-148996245-G-A | c.574G>A | p.A192T | Missense | 5/13 | - | 2 |
5-148996251-C-T | c.580C>T | p.P194S | Missense | 5/13 | - | 2 |
5-148996252-C-A | c.581C>A | p.P194H | Missense | 5/13 | - | 3 |
5-148996253-T-A | c.582T>A | p.P194= | Synonymous | 5/13 | - | 1 |
5-148996253-T-C | c.582T>C | p.P194= | Synonymous | 5/13 | - | 2 |
5-148996253-T-G | c.582T>G | p.P194= | Synonymous | 5/13 | - | 1 |
5-148996260-TCA-T | c.589_590del | p.Q197Efs*15 | Frameshift | 5/13 | - | 1 |
5-148996263-A-G | c.592A>G | p.R198G | Missense | 5/13 | - | 1 |
5-148996263-AG-CC | c.592_593delinsCC | p.R198P | Missense | 5/13 | - | 1 |
5-148996264-G-A | c.593G>A | p.R198K | Missense | 5/13 | - | 2 |
5-148996266-G-A | c.595G>A | p.A199T | Missense | 5/13 | - | 1 |
5-148996267-GC-G | c.596del | p.A199Vfs*8 | Frameshift | 5/13 | - | 1 |
5-148996278-C-T | c.607C>T | p.L203F | Missense | 5/13 | - | 1 |
5-148996283-G-A | c.612G>A | p.Q204= | Synonymous | 5/13 | - | 1 |
5-148996286-C-T | c.615C>T | p.D205= | Synonymous | 5/13 | - | 3 |
5-148996287-G-A | c.616G>A | p.V206M | Missense | 5/13 | - | 5 |
5-148996290-A-G | c.619A>G | p.N207D | Missense | 5/13 | - | 1 |
5-148996294-C-T | c.623C>T | p.T208I | Missense | 5/13 | - | 2 |
5-148996303-A-G | c.632A>G | p.N211S | Missense | 5/13 | - | 1 |
5-148996311-A-C | c.640A>C | p.K214Q | Missense | 5/13 | - | 1 |
5-148996317-C-T | c.646C>T | p.R216C | Missense | 5/13 | - | 5 |
5-148996318-G-A | c.647G>A | p.R216H | Missense | 5/13 | - | 1 |
5-148996325-A-C | c.654A>C | p.E218D | Missense | 5/13 | - | 1 |
5-148996325-A-T | c.654A>T | p.E218D | Missense | 5/13 | - | 1 |
5-148996328-G-A | c.657G>A | p.V219= | Synonymous | 5/13 | - | 4 |
5-148996328-G-C | c.657G>C | p.V219= | Synonymous | 5/13 | - | 3 |
5-148996328-G-T | c.657G>T | p.V219= | Synonymous | 5/13 | - | 1 |
5-148997686-A-G | c.659-53A>G | - | IntronicSNV | - | 5/12 | 5 |
5-148997686-A-T | c.659-53A>T | - | IntronicSNV | - | 5/12 | 5 |
5-148997741-T-A | c.661T>A | p.S221T | Missense | 6/13 | - | 1 |
5-148997743-C-A | c.663C>A | p.S221= | Synonymous | 6/13 | - | 1 |
5-148997743-C-G | c.663C>G | p.S221= | Synonymous | 6/13 | - | 1 |
5-148997743-C-T | c.663C>T | p.S221= | Synonymous | 6/13 | - | 1 |
5-148997745-A-G | c.665A>G | p.K222R | Missense | 6/13 | - | 1 |
5-148997749-C-T | c.669C>T | p.Y223= | Synonymous | 6/13 | - | 2 |
5-148997751-C-A | c.671C>A | p.T224N | Missense | 6/13 | - | 2 |
5-148997766-T-C | c.686T>C | p.L229P | Missense | 6/13 | - | 1 |
5-148997774-C-A | c.694C>A | p.R232= | Synonymous | 6/13 | - | 1 |
5-148997774-C-T | c.694C>T | p.R232W | Missense | 6/13 | - | 1 |
5-148997775-G-T | c.695G>T | p.R232L | Missense | 6/13 | - | 1 |
5-148997777-G-T | c.697G>T | p.E233* | Nonsense | 6/13 | - | 1 |
5-148997780-C-T | c.700C>T | p.R234W | Missense | 6/13 | - | 1 |
5-148997782-G-A | c.702G>A | p.R234= | Synonymous | 6/13 | - | 1 |
5-148997783-C-A | c.703C>A | p.L235M | Missense | 6/13 | - | 1 |
5-148997783-C-T | c.703C>T | p.L235= | Synonymous | 6/13 | - | 1 |
5-148997785-G-A | c.705G>A | p.L235= | Synonymous | 6/13 | - | 1 |
5-148997785-G-C | c.705G>C | p.L235= | Synonymous | 6/13 | - | 1 |
5-148997785-G-T | c.705G>T | p.L235= | Synonymous | 6/13 | - | 1 |
5-148997787-C-T | c.707C>T | p.A236V | Missense | 6/13 | - | 1 |
5-148997790-G-A | c.710G>A | p.R237H | Missense | 6/13 | - | 4 |
5-148997796-A-G | c.716A>G | p.N239S | Missense | 6/13 | - | 1 |
5-148997797-C-A | c.717C>A | p.N239K | Missense | 6/13 | - | 1 |
5-148997804-A-G | c.724A>G | p.T242A | Missense | 6/13 | - | 1 |
5-148997812-C-A | c.732C>A | p.S244= | Synonymous | 6/13 | - | 1 |
5-148997812-C-G | c.732C>G | p.S244= | Synonymous | 6/13 | - | 1 |
5-148997812-C-T | c.732C>T | p.S244= | Synonymous | 6/13 | - | 2 |
5-148997815-G-C | c.735G>C | p.K245N | Missense | 6/13 | - | 1 |
5-148997815-G-T | c.735G>T | p.K245N | Missense | 6/13 | - | 1 |
5-148997819-A-G | c.739A>G | p.T247A | Missense | 6/13 | - | 1 |
5-148997825-C-G | c.745C>G | p.R249G | Missense | 6/13 | - | 2 |
5-148997830-G-A | c.750G>A | p.L250= | Synonymous | 6/13 | - | 2 |
5-148997833-C-T | c.753C>T | p.S251= | Synonymous | 6/13 | - | 1 |
5-148997852-G-T | c.772G>T | p.A258S | Missense | 6/13 | - | 1 |
5-148997853-C-T | c.773C>T | p.A258V | Missense | 6/13 | - | 2 |
5-148998248-G-A | c.790-253G>A | - | IntronicSNV | - | 6/12 | 1 |
5-148998250-G-A | c.790-251G>A | - | IntronicSNV | - | 6/12 | 1 |
5-148998380-G-A | c.790-121G>A | - | IntronicSNV | - | 6/12 | 2 |
5-148998504-G-A | c.793G>A | p.E265K | Missense | 7/13 | - | 1 |
5-148998506-A-C | c.795A>C | p.E265D | Missense | 7/13 | - | 1 |
5-148998506-A-T | c.795A>T | p.E265D | Missense | 7/13 | - | 1 |
5-148998513-G-A | c.802G>A | p.E268K | Missense | 7/13 | - | 1 |
5-148998514-A-C | c.803A>C | p.E268A | Missense | 7/13 | - | 1 |
5-148998518-T-C | c.807T>C | p.F269= | Synonymous | 7/13 | - | 1 |
5-148998524-T-A | c.813T>A | p.D271E | Missense | 7/13 | - | 1 |
5-148998524-T-G | c.813T>G | p.D271E | Missense | 7/13 | - | 1 |
5-148998534-AGG-CAT | c.823_825delinsCAT | p.R275H | Missense | 7/13 | - | 1 |
5-148998537-T-A | c.826T>A | p.F276I | Missense | 7/13 | - | 1 |
5-148998538-T-A | c.827T>A | p.F276Y | Missense | 7/13 | - | 1 |
5-148998542-G-T | c.831G>T | p.Q277H | Missense | 7/13 | - | 1 |
5-148998550-C-T | c.839C>T | p.S280F | Missense | 7/13 | - | 1 |
5-148998552-C-T | c.841C>T | p.L281= | Synonymous | 7/13 | - | 1 |
5-148998553-CTGTGTGTG-C | c.842_849del | p.L281Hfs*2 | Frameshift | 7/13 | - | 3 |
5-148998556-G-T | c.845G>T | p.C282F | Missense | 7/13 | - | 1 |
5-148998579-G-C | c.868G>C | p.V290L | Missense | 7/13 | - | 1 |
5-148998579-G-T | c.868G>T | p.V290L | Missense | 7/13 | - | 1 |
5-148998582-G-A | c.871G>A | p.A291T | Missense | 7/13 | - | 5 |
5-148998585-G-A | c.874G>A | p.A292T | Missense | 7/13 | - | 2 |
5-148998591-C-A | c.880C>A | p.L294M | Missense | 7/13 | - | 1 |
5-148998599-T-A | c.888T>A | p.N296K | Missense | 7/13 | - | 1 |
5-148998600-C-T | c.889C>T | p.L297= | Synonymous | 7/13 | - | 1 |
5-148998602-G-A | c.891G>A | p.L297= | Synonymous | 7/13 | - | 1 |
5-148998602-G-C | c.891G>C | p.L297= | Synonymous | 7/13 | - | 1 |
5-148998602-G-T | c.891G>T | p.L297= | Synonymous | 7/13 | - | 2 |
5-148998688-T-C | c.894+83T>C | - | IntronicSNV | - | 7/12 | 1 |
5-148998699-C-T | c.894+94C>T | - | IntronicSNV | - | 7/12 | 1 |
5-148998724-G-T | c.894+119G>T | - | IntronicSNV | - | 7/12 | 1 |
5-148999881-G-GC | c.895-35dup | - | IntronicInsertion | - | 7/12 | 4 |
5-148999918-C-A | c.896C>A | p.A299D | Missense | 8/13 | - | 2 |
5-148999921-T-A | c.899T>A | p.F300Y | Missense | 8/13 | - | 1 |
5-148999922-C-T | c.900C>T | p.F300= | Synonymous | 8/13 | - | 1 |
5-148999923-C-T | c.901C>T | p.L301F | Missense | 8/13 | - | 2 |
5-148999926-T-C | c.904T>C | p.Y302H | Missense | 8/13 | - | 1 |
5-148999931-C-T | c.909C>T | p.F303= | Synonymous | 8/13 | - | 2 |
5-148999933-G-A | c.911G>A | p.R304K | Missense | 8/13 | - | 1 |
5-148999936-C-T | c.914C>T | p.P305L | Missense | 8/13 | - | 1 |
5-148999940-C-T | c.918C>T | p.H306= | Synonymous | 8/13 | - | 1 |
5-148999941-G-A | c.919G>A | p.E307K | Missense | 8/13 | - | 1 |
5-148999941-G-T | c.919G>T | p.E307* | Nonsense | 8/13 | - | 2 |
5-148999947-A-C | c.925A>C | p.N309H | Missense | 8/13 | - | 1 |
5-148999955-C-T | c.933C>T | p.D311= | Synonymous | 8/13 | - | 2 |
5-148999960-C-T | c.938C>T | p.P313L | Missense | 8/13 | - | 2 |
5-148999961-C-G | c.939C>G | p.P313= | Synonymous | 8/13 | - | 1 |
5-148999962-G-A | c.940G>A | p.E314K | Missense | 8/13 | - | 2 |
5-148999964-G-A | c.942G>A | p.E314= | Synonymous | 8/13 | - | 3 |
5-148999965-G-A | c.943G>A | p.G315R | Missense | 8/13 | - | 1 |
5-148999966-G-A | c.944G>A | p.G315E | Missense | 8/13 | - | 2 |
5-148999969-C-G | c.947C>G | p.P316R | Missense | 8/13 | - | 1 |
5-148999970-T-C | c.948T>C | p.P316= | Synonymous | 8/13 | - | 1 |
5-148999980-T-C | c.958T>C | p.Y320H | Missense | 8/13 | - | 3 |
5-148999983-TG-AC | c.961_962delinsAC | p.C321T | Missense | 8/13 | - | 1 |
5-148999984-G-A | c.962G>A | p.C321Y | Missense | 8/13 | - | 1 |
5-148999985-C-A | c.963C>A | p.C321* | Nonsense | 8/13 | - | 1 |
5-148999995-A-T | c.973A>T | p.R325* | Nonsense | 8/13 | - | 1 |
5-148999994-AAG-A | c.976_977del | p.D326Pfs*4 | Frameshift | 8/13 | - | 1 |
5-149000019-C-T | c.997C>T | p.L333= | Synonymous | 8/13 | - | 1 |
5-149000021-G-A | c.999G>A | p.L333= | Synonymous | 8/13 | - | 2 |
5-149000021-G-C | c.999G>C | p.L333= | Synonymous | 8/13 | - | 1 |
5-149000021-G-T | c.999G>T | p.L333= | Synonymous | 8/13 | - | 1 |
5-149000021-GA-G | c.1002del | p.K334Nfs*6 | Frameshift | 8/13 | - | 1 |
5-149000021-G-GA | c.1002dup | p.F335Ifs*2 | Frameshift | 8/13 | - | 1 |
5-149000039-C-T | c.1005+12C>T | - | IntronicSNV | - | 8/12 | 7 |
5-149000251-G-A | c.1005+224G>A | - | IntronicSNV | - | 8/12 | 2 |
5-149000255-A-G | c.1005+228A>G | - | IntronicSNV | - | 8/12 | 2 |
5-149000400-G-A | c.1005+373G>A | - | IntronicSNV | - | 8/12 | 1 |
5-149001283-T-A | c.1006-13T>A | - | IntronicSNV | - | 8/12 | 4 |
5-149001283-T-C | c.1006-13T>C | - | IntronicSNV | - | 8/12 | 4 |
5-149001301-A-C | c.1011A>C | p.Q337H | Missense | 9/13 | - | 1 |
5-149001301-A-T | c.1011A>T | p.Q337H | Missense | 9/13 | - | 1 |
5-149001302-C-A | c.1012C>A | p.R338= | Synonymous | 9/13 | - | 1 |
5-149001302-CGG-AGC | c.1012_1014delinsAGC | p.R338S | Missense | 9/13 | - | 1 |
5-149001304-G-A | c.1014G>A | p.R338= | Synonymous | 9/13 | - | 1 |
5-149001304-G-C | c.1014G>C | p.R338= | Synonymous | 9/13 | - | 1 |
5-149001304-G-T | c.1014G>T | p.R338= | Synonymous | 9/13 | - | 1 |
5-149001303-G-A | c.1013G>A | p.R338Q | Missense | 9/13 | - | 5 |
5-149001306-CT-C | c.1016del | p.L339Qfs*22 | Frameshift | 9/13 | - | 1 |
5-149001312-GC-AG | c.1022_1023delinsAG | p.G341E | Missense | 9/13 | - | 2 |
5-149001317-G-C | c.1027G>C | p.V343L | Missense | 9/13 | - | 1 |
5-149001317-G-T | c.1027G>T | p.V343L | Missense | 9/13 | - | 1 |
5-149001321-G-A | c.1031G>A | p.W344* | Nonsense | 9/13 | - | 1 |
5-149001322-G-GC | c.1033dup | p.Q345Pfs*28 | Frameshift | 9/13 | - | 1 |
5-149001330-T-C | c.1040T>C | p.L347P | Missense | 9/13 | - | 1 |
5-149001333-G-A | c.1043G>A | p.C348Y | Missense | 9/13 | - | 1 |
5-149001340-G-T | c.1050G>T | p.L350= | Synonymous | 9/13 | - | 1 |
5-149001358-C-T | c.1068C>T | p.G356= | Synonymous | 9/13 | - | 1 |
5-149001380-C-T | c.1090C>T | p.R364C | Missense | 9/13 | - | 3 |
5-149001381-G-A | c.1091G>A | p.R364H | Missense | 9/13 | - | 2 |
5-149001383-C-G | c.1093C>G | p.L365V | Missense | 9/13 | - | 1 |
5-149001383-C-T | c.1093C>T | p.L365= | Synonymous | 9/13 | - | 1 |
5-149001387-A-T | c.1097A>T | p.D366V | Missense | 9/13 | - | 1 |
5-149001392-C-T | c.1102C>T | p.L368= | Synonymous | 9/13 | - | 1 |
5-149001394-A-C | c.1104A>C | p.L368= | Synonymous | 9/13 | - | 1 |
5-149001394-A-G | c.1104A>G | p.L368= | Synonymous | 9/13 | - | 1 |
5-149001394-A-T | c.1104A>T | p.L368= | Synonymous | 9/13 | - | 1 |
5-149001407-C-A | c.1117C>A | p.R373= | Synonymous | 9/13 | - | 1 |
5-149001407-C-T | c.1117C>T | p.R373W | Missense | 9/13 | - | 2 |
5-149001409-G-A | c.1119G>A | p.R373= | Synonymous | 9/13 | - | 3 |
5-149001409-G-C | c.1119G>C | p.R373= | Synonymous | 9/13 | - | 1 |
5-149001409-G-T | c.1119G>T | p.R373= | Synonymous | 9/13 | - | 1 |
5-149001408-G-A | c.1118G>A | p.R373Q | Missense | 9/13 | - | 1 |
5-149001413-G-T | c.1123G>T | p.E375* | Nonsense | 9/13 | - | 1 |
5-149001426-T-C | c.1136T>C | p.L379P | Missense | 9/13 | - | 1 |
5-149001428-G-A | c.1138G>A | p.E380K | Missense | 9/13 | - | 1 |
5-149001430-G-T | c.1140G>T | p.E380D | Missense | 9/13 | - | 2 |
5-149001437-AGT-TGA | c.1147_1149delinsTGA | p.S383* | Nonsense | 9/13 | - | 1 |
5-149001437-A-T | c.1147A>T | p.S383C | Missense | 9/13 | - | 4 |
5-149001438-G-A | c.1148G>A | p.S383N | Missense | 9/13 | - | 1 |
5-149001443-A-T | c.1153A>T | p.T385S | Missense | 9/13 | - | 1 |
5-149001444-C-G | c.1154C>G | p.T385S | Missense | 9/13 | - | 1 |
5-149001444-C-T | c.1154C>T | p.T385I | Missense | 9/13 | - | 1 |
5-149001452-G-T | c.1162G>T | p.E388* | Nonsense | 9/13 | - | 1 |
5-149001457-G-A | c.1167G>A | p.E389= | Synonymous | 9/13 | - | 1 |
5-149001459-C-T | c.1169C>T | p.A390V | Missense | 9/13 | - | 1 |
5-149001464-C-T | c.1174C>T | p.R392W | Missense | 9/13 | - | 5 |
5-149001475-C-A | c.1185C>A | p.Y395* | Nonsense | 9/13 | - | 1 |
5-149001477-A-G | c.1187A>G | p.Q396R | Missense | 9/13 | - | 1 |
5-149001478-G-A | c.1188G>A | p.Q396= | Synonymous | 9/13 | - | 1 |
5-149001486-A-G | c.1196A>G | p.N399S | Missense | 9/13 | - | 1 |
5-149001489-C-T | c.1199C>T | p.S400L | Missense | 9/13 | - | 10 |
5-149001510-C-T | c.1220C>T | p.P407L | Missense | 9/13 | - | 1 |
5-149001514-G-A | c.1224G>A | p.Q408= | Synonymous | 9/13 | - | 1 |
5-149001520-C-T | c.1230C>T | p.N410= | Synonymous | 9/13 | - | 1 |
5-149001522-A-G | c.1232A>G | p.Q411R | Missense | 9/13 | - | 2 |
5-149001524-C-T | c.1234C>T | p.L412= | Synonymous | 9/13 | - | 2 |
5-149001526-G-A | c.1236G>A | p.L412= | Synonymous | 9/13 | - | 1 |
5-149001526-G-C | c.1236G>C | p.L412= | Synonymous | 9/13 | - | 1 |
5-149001526-G-T | c.1236G>T | p.L412= | Synonymous | 9/13 | - | 1 |
5-149001528-T-C | c.1238T>C | p.V413A | Missense | 9/13 | - | 1 |
5-149001530-A-G | c.1240A>G | p.M414V | Missense | 9/13 | - | 2 |
5-149001533-C-T | c.1243C>T | p.Q415* | Nonsense | 9/13 | - | 1 |
5-149001539-C-T | c.1249C>T | p.L417= | Synonymous | 9/13 | - | 1 |
5-149001541-G-A | c.1251G>A | p.L417= | Synonymous | 9/13 | - | 1 |
5-149001541-G-C | c.1251G>C | p.L417= | Synonymous | 9/13 | - | 1 |
5-149001541-G-T | c.1251G>T | p.L417= | Synonymous | 9/13 | - | 1 |
5-149001550-C-T | c.1260C>T | p.I420= | Synonymous | 9/13 | - | 2 |
5-149001551-A-C | c.1261A>C | p.M421L | Missense | 9/13 | - | 36 |
5-149001551-A-T | c.1261A>T | p.M421L | Missense | 9/13 | - | 4 |
5-149001554-T-G | c.1264T>G | p.C422G | Missense | 9/13 | - | 1 |
5-149001559-A-C | c.1269A>C | p.T423= | Synonymous | 9/13 | - | 1 |
5-149001559-A-G | c.1269A>G | p.T423= | Synonymous | 9/13 | - | 1 |
5-149001559-A-T | c.1269A>T | p.T423= | Synonymous | 9/13 | - | 1 |
5-149001562-C-G | c.1272C>G | p.F424L | Missense | 9/13 | - | 1 |
5-149001562-C-T | c.1272C>T | p.F424= | Synonymous | 9/13 | - | 3 |
5-149001563-G-C | c.1273G>C | p.V425L | Missense | 9/13 | - | 1 |
5-149001570-T-G | c.1280T>G | p.L427R | Missense | 9/13 | - | 2 |
5-149001580-C-T | c.1290C>T | p.D430= | Synonymous | 9/13 | - | 1 |
5-149001608-G-A | c.1318G>A | p.E440K | Missense | 9/13 | - | 1 |
5-149001611-G-A | c.1321G>A | p.G441R | Missense | 9/13 | - | 1 |
5-149001611-G-C | c.1321G>C | p.G441R | Missense | 9/13 | - | 1 |
5-149001624-A-C | c.1334A>C | p.Q445P | Missense | 9/13 | - | 2 |
5-149001626-G-A | c.1335+1G>A | - | IntronicSNV | - | 9/12 | 1 |
5-149003575-C-T | c.1336C>T | p.L446= | Synonymous | 10/13 | - | 1 |
5-149003582-A-G | c.1343A>G | p.H448R | Missense | 10/13 | - | 1 |
5-149003590-G-A | c.1351G>A | p.V451I | Missense | 10/13 | - | 5 |
5-149003590-G-T | c.1351G>T | p.V451F | Missense | 10/13 | - | 1 |
5-149003591-T-C | c.1352T>C | p.V451A | Missense | 10/13 | - | 1 |
5-149003603-C-T | c.1364C>T | p.A455V | Missense | 10/13 | - | 5 |
5-149003605-T-C | c.1366T>C | p.F456L | Missense | 10/13 | - | 1 |
5-149003607-C-A | c.1368C>A | p.F456L | Missense | 10/13 | - | 1 |
5-149003607-C-G | c.1368C>G | p.F456L | Missense | 10/13 | - | 2 |
5-149003624-A-G | c.1385A>G | p.D462G | Missense | 10/13 | - | 1 |
5-149003626-G-A | c.1387G>A | p.A463T | Missense | 10/13 | - | 9 |
5-149003627-C-T | c.1388C>T | p.A463V | Missense | 10/13 | - | 16 |
5-149003631-G-T | c.1392G>T | p.L464= | Synonymous | 10/13 | - | 1 |
5-149003635-C-T | c.1396C>T | p.R466W | Missense | 10/13 | - | 2 |
5-149003640-G-A | c.1401G>A | p.T467= | Synonymous | 10/13 | - | 2 |
5-149003642-G-T | c.1403G>T | p.S468I | Missense | 10/13 | - | 1 |
5-149003653-C-T | c.1414C>T | p.R472C | Missense | 10/13 | - | 2 |
5-149003654-G-A | c.1415G>A | p.R472H | Missense | 10/13 | - | 3 |
5-149003662-C-T | c.1423C>T | p.Q475* | Nonsense | 10/13 | - | 2 |
5-149003664-A-G | c.1425A>G | p.Q475= | Synonymous | 10/13 | - | 1 |
5-149003682-G-A | c.1443G>A | p.V481= | Synonymous | 10/13 | - | 1 |
5-149003682-G-C | c.1443G>C | p.V481= | Synonymous | 10/13 | - | 1 |
5-149003682-G-T | c.1443G>T | p.V481= | Synonymous | 10/13 | - | 1 |
5-149003683-C-T | c.1444C>T | p.Q482* | Nonsense | 10/13 | - | 1 |
5-149003685-G-A | c.1446G>A | p.Q482= | Synonymous | 10/13 | - | 1 |
5-149003690-C-T | c.1451C>T | p.P484L | Missense | 10/13 | - | 1 |
5-149003693-C-T | c.1454C>T | p.P485L | Missense | 10/13 | - | 2 |
5-149003701-C-G | c.1462C>G | p.Q488E | Missense | 10/13 | - | 1 |
5-149003701-CA-C | c.1464del | p.Q488Hfs*15 | Frameshift | 10/13 | - | 2 |
5-149003851-A-C | c.1464+148A>C | - | IntronicSNV | - | 10/12 | 4 |
5-149003851-A-T | c.1464+148A>T | - | IntronicSNV | - | 10/12 | 3 |
5-149004827-A-C | c.1464+1124A>C | - | IntronicSNV | - | 10/12 | 1 |
5-149004827-A-T | c.1464+1124A>T | - | IntronicSNV | - | 10/12 | 1 |
5-149005118-G-C | c.1464+1415G>C | - | IntronicSNV | - | 10/12 | 1 |
5-149006335-C-G | c.1465-304C>G | - | IntronicSNV | - | 10/12 | 1 |
5-149006446-A-G | c.1465-193A>G | - | IntronicSNV | - | 10/12 | 1 |
5-149006640-C-T | c.1466C>T | p.P489L | Missense | 11/13 | - | 35 |
5-149006645-C-G | c.1471C>G | p.L491V | Missense | 11/13 | - | 1 |
5-149006649-C-T | c.1475C>T | p.P492L | Missense | 11/13 | - | 2 |
5-149006653-G-T | c.1479G>T | p.G493= | Synonymous | 11/13 | - | 3 |
5-149006660-C-T | c.1486C>T | p.R496C | Missense | 11/13 | - | 1 |
5-149006666-G-C | c.1492G>C | p.V498L | Missense | 11/13 | - | 1 |
5-149006666-G-T | c.1492G>T | p.V498L | Missense | 11/13 | - | 1 |
5-149006684-AG-TA | c.1510_1511delinsTA | p.R504* | Nonsense | 11/13 | - | 1 |
5-149006694-C-G | c.1520C>G | p.P507R | Missense | 11/13 | - | 4 |
5-149006704-G-A | c.1530G>A | p.L510= | Synonymous | 11/13 | - | 1 |
5-149006706-AC-A | c.1534del | p.Q512Rfs*2 | Frameshift | 11/13 | - | 1 |
5-149006709-A-T | c.1535A>T | p.Q512L | Missense | 11/13 | - | 1 |
5-149006711-G-A | c.1537G>A | p.V513M | Missense | 11/13 | - | 3 |
5-149006714-A-G | c.1540A>G | p.T514A | Missense | 11/13 | - | 3 |
5-149006720-A-G | c.1546A>G | p.N516D | Missense | 11/13 | - | 1 |
5-149006721-A-G | c.1547A>G | p.N516S | Missense | 11/13 | - | 1 |
5-149006726-A-C | c.1552A>C | p.S518R | Missense | 11/13 | - | 19 |
5-149006726-A-T | c.1552A>T | p.S518C | Missense | 11/13 | - | 3 |
5-149006727-G-T | c.1553G>T | p.S518I | Missense | 11/13 | - | 4 |
5-149006728-T-A | c.1554T>A | p.S518R | Missense | 11/13 | - | 7 |
5-149006728-T-G | c.1554T>G | p.S518R | Missense | 11/13 | - | 7 |
5-149006733-C-G | c.1559C>G | p.T520S | Missense | 11/13 | - | 1 |
5-149006738-A-C | c.1564A>C | p.T522P | Missense | 11/13 | - | 1 |
5-149006754-T-C | c.1580T>C | p.L527P | Missense | 11/13 | - | 1 |
5-149006755-G-T | c.1581G>T | p.L527= | Synonymous | 11/13 | - | 3 |
5-149006759-C-T | c.1585C>T | p.R529W | Missense | 11/13 | - | 1 |
5-149006760-G-A | c.1586G>A | p.R529Q | Missense | 11/13 | - | 4 |
5-149006763-G-A | c.1589G>A | p.G530D | Missense | 11/13 | - | 1 |
5-149006768-A-G | c.1594A>G | p.I532V | Missense | 11/13 | - | 1 |
5-149006774-G-T | c.1600G>T | p.A534S | Missense | 11/13 | - | 3 |
5-149006777-A-G | c.1603A>G | p.I535V | Missense | 11/13 | - | 1 |
5-149006787-A-G | c.1613A>G | p.N538S | Missense | 11/13 | - | 1 |
5-149006792-G-T | c.1618G>T | p.D540Y | Missense | 11/13 | - | 1 |
5-149006795-AC-TG | c.1621_1622delinsTG | p.T541C | Missense | 11/13 | - | 1 |
5-149006801-G-A | c.1627G>A | p.G543S | Missense | 11/13 | - | 1 |
5-149006805-A-C | c.1631A>C | p.N544T | Missense | 11/13 | - | 1 |
5-149006807-A-T | c.1633A>T | p.S545C | Missense | 11/13 | - | 1 |
5-149006810-G-A | c.1636G>A | p.G546S | Missense | 11/13 | - | 5 |
5-149006813-C-T | c.1639C>T | p.R547C | Missense | 11/13 | - | 1 |
5-149006814-G-A | c.1640G>A | p.R547H | Missense | 11/13 | - | 3 |
5-149006822-G-A | c.1648G>A | p.V550M | Missense | 11/13 | - | 1 |
5-149006822-G-C | c.1648G>C | p.V550L | Missense | 11/13 | - | 1 |
5-149006822-G-T | c.1648G>T | p.V550L | Missense | 11/13 | - | 1 |
5-149006825-G-A | c.1651G>A | p.D551N | Missense | 11/13 | - | 2 |
5-149006830-C-A | c.1656C>A | p.T552= | Synonymous | 11/13 | - | 1 |
5-149006830-C-G | c.1656C>G | p.T552= | Synonymous | 11/13 | - | 1 |
5-149006830-C-T | c.1656C>T | p.T552= | Synonymous | 11/13 | - | 1 |
5-149006831-G-A | c.1657G>A | p.G553R | Missense | 11/13 | - | 2 |
5-149006831-G-C | c.1657G>C | p.G553R | Missense | 11/13 | - | 2 |
5-149006837-A-G | c.1660+3A>G | - | IntronicSNV | - | 11/12 | 11 |
5-149006839-G-A | c.1660+5G>A | - | IntronicSNV | - | 11/12 | 1 |
5-149006842-A-G | c.1660+8A>G | - | IntronicSNV | - | 11/12 | 4 |
5-149006879-A-C | c.1660+45A>C | - | IntronicSNV | - | 11/12 | 3 |
5-149006879-A-G | c.1660+45A>G | - | IntronicSNV | - | 11/12 | 5 |
5-149007059-C-T | c.1660+225C>T | - | IntronicSNV | - | 11/12 | 1 |
5-149008002-A-G | c.1661-370A>G | - | IntronicSNV | - | 11/12 | 1 |
5-149008377-C-T | c.1666C>T | p.R556C | Missense | 12/13 | - | 1 |
5-149008380-TGGG-T | c.1669_1671del | p.G557del | InFrameDeletion | 12/13 | - | 1 |
5-149008387-T-G | c.1676T>G | p.V559G | Missense | 12/13 | - | 1 |
5-149008392-G-A | c.1681G>A | p.A561T | Missense | 12/13 | - | 3 |
5-149008395-G-A | c.1684G>A | p.G562R | Missense | 12/13 | - | 1 |
5-149008401-C-T | c.1690C>T | p.L564= | Synonymous | 12/13 | - | 1 |
5-149008403-A-C | c.1692A>C | p.L564= | Synonymous | 12/13 | - | 1 |
5-149008403-A-G | c.1692A>G | p.L564= | Synonymous | 12/13 | - | 20 |
5-149008403-A-T | c.1692A>T | p.L564= | Synonymous | 12/13 | - | 1 |
5-149008411-A-G | c.1700A>G | p.Y567C | Missense | 12/13 | - | 2 |
5-149008413-C-T | c.1702C>T | p.H568Y | Missense | 12/13 | - | 3 |
5-149008419-GTC-ATG | c.1708_1710delinsATG | p.V570M | Missense | 12/13 | - | 1 |
5-149008423-C-G | c.1712C>G | p.P571R | Missense | 12/13 | - | 1 |
5-149008426-G-A | c.1715G>A | p.S572N | Missense | 12/13 | - | 4 |
5-149008429-GC-G | c.1718del | p.A573Efs*10 | Frameshift | 12/13 | - | 1 |
5-149008431-G-C | c.1720G>C | p.E574Q | Missense | 12/13 | - | 1 |
5-149008437-C-T | c.1726C>T | p.L576F | Missense | 12/13 | - | 1 |
5-149008448-G-C | c.1737G>C | p.Q579H | Missense | 12/13 | - | 1 |
5-149008448-G-T | c.1737G>T | p.Q579H | Missense | 12/13 | - | 3 |
5-149008453-G-A | c.1742G>A | p.G581E | Missense | 12/13 | - | 1 |
5-149008453-G-C | c.1742G>C | p.G581A | Missense | 12/13 | - | 1 |
5-149008454-G-A | c.1743G>A | p.G581= | Synonymous | 12/13 | - | 1 |
5-149008454-G-C | c.1743G>C | p.G581= | Synonymous | 12/13 | - | 1 |
5-149008454-G-T | c.1743G>T | p.G581= | Synonymous | 12/13 | - | 1 |
5-149008455-C-T | c.1744C>T | p.L582= | Synonymous | 12/13 | - | 1 |
5-149008455-CT-TC | c.1744_1745delinsTC | p.L582S | Missense | 12/13 | - | 1 |
5-149008457-G-A | c.1746G>A | p.L582= | Synonymous | 12/13 | - | 1 |
5-149008460-C-A | c.1749C>A | p.N583K | Missense | 12/13 | - | 1 |
5-149008462-A-T | c.1751A>T | p.K584I | Missense | 12/13 | - | 1 |
5-149008464-G-T | c.1753G>T | p.D585Y | Missense | 12/13 | - | 1 |
5-149008467-C-A | c.1756C>A | p.P586T | Missense | 12/13 | - | 21 |
5-149008469-C-A | c.1758C>A | p.P586= | Synonymous | 12/13 | - | 1 |
5-149008469-C-G | c.1758C>G | p.P586= | Synonymous | 12/13 | - | 1 |
5-149008469-C-T | c.1758C>T | p.P586= | Synonymous | 12/13 | - | 1 |
5-149008482-C-T | c.1771C>T | p.P591S | Missense | 12/13 | - | 1 |
5-149008484-G-A | c.1773G>A | p.P591= | Synonymous | 12/13 | - | 4 |
5-149008484-G-C | c.1773G>C | p.P591= | Synonymous | 12/13 | - | 1 |
5-149008484-G-GT | c.1773_1774insT | p.E592* | Nonsense | 12/13 | - | 1 |
5-149008484-G-T | c.1773G>T | p.P591= | Synonymous | 12/13 | - | 1 |
5-149008485-G-A | c.1774G>A | p.E592K | Missense | 12/13 | - | 5 |
5-149008487-G-A | c.1776G>A | p.E592= | Synonymous | 12/13 | - | 1 |
5-149008500-C-T | c.1789C>T | p.L597= | Synonymous | 12/13 | - | 2 |
5-149008502-A-C | c.1791A>C | p.L597= | Synonymous | 12/13 | - | 1 |
5-149008502-A-G | c.1791A>G | p.L597= | Synonymous | 12/13 | - | 1 |
5-149008502-A-T | c.1791A>T | p.L597= | Synonymous | 12/13 | - | 1 |
5-149008506-C-T | c.1795C>T | p.P599S | Missense | 12/13 | - | 1 |
5-149008507-C-A | c.1796C>A | p.P599H | Missense | 12/13 | - | 1 |
5-149008510-C-G | c.1799C>G | p.S600C | Missense | 12/13 | - | 1 |
5-149008519-C-T | c.1808C>T | p.T603I | Missense | 12/13 | - | 2 |
5-149008521-A-G | c.1810A>G | p.M604V | Missense | 12/13 | - | 38 |
5-149008522-T-C | c.1811T>C | p.M604T | Missense | 12/13 | - | 1 |
5-149008523-G-A | c.1812G>A | p.M604I | Missense | 12/13 | - | 2 |
5-149008751-C-A | c.1818+222C>A | - | IntronicSNV | - | 12/12 | 1 |
5-149008751-C-G | c.1818+222C>G | - | IntronicSNV | - | 12/12 | 1 |
5-149008751-C-T | c.1818+222C>T | - | IntronicSNV | - | 12/12 | 1 |
5-149008844-A-G | c.1818+315A>G | - | IntronicSNV | - | 12/12 | 1 |
5-149011244-T-TCCTTGACTTC | c.1819-300_1819-291dup | - | IntronicInsertion | - | 12/12 | 1 |
5-149011551-G-T | c.1825G>T | p.A609S | Missense | 13/13 | - | 2 |
5-149011553-C-G | c.1827C>G | p.A609= | Synonymous | 13/13 | - | 1 |
5-149011568-G-A | c.1842G>A | p.V614= | Synonymous | 13/13 | - | 2 |
5-149011572-AG-CT | c.1846_1847inv | p.R616L | Missense | 13/13 | - | 1 |
5-149011576-G-A | c.1850G>A | p.S617N | Missense | 13/13 | - | 1 |
5-149011575-A-C | c.1849A>C | p.S617R | Missense | 13/13 | - | 1 |
5-149011577-C-A | c.1851C>A | p.S617R | Missense | 13/13 | - | 1 |
5-149011577-C-G | c.1851C>G | p.S617R | Missense | 13/13 | - | 1 |
5-149011587-G-C | c.1861G>C | p.V621L | Missense | 13/13 | - | 1 |
5-149011587-G-T | c.1861G>T | p.V621L | Missense | 13/13 | - | 1 |
5-149011608-C-T | c.1882C>T | p.P628S | Missense | 13/13 | - | 1 |
5-149011614-A-G | c.1888A>G | p.T630A | Missense | 13/13 | - | 1 |
5-149011616-C-A | c.1890C>A | p.T630= | Synonymous | 13/13 | - | 1 |
5-149011616-C-G | c.1890C>G | p.T630= | Synonymous | 13/13 | - | 1 |
5-149011616-C-T | c.1890C>T | p.T630= | Synonymous | 13/13 | - | 1 |
5-149011625-G-A | c.1899G>A | p.E633= | Synonymous | 13/13 | - | 1 |
5-149011628-C-G | c.1902C>G | p.A634= | Synonymous | 13/13 | - | 1 |
5-149011628-C-T | c.1902C>T | p.A634= | Synonymous | 13/13 | - | 2 |
5-149011630-A-G | c.1904A>G | p.Q635R | Missense | 13/13 | - | 1 |
5-149011634-C-A | c.1908C>A | p.D636E | Missense | 13/13 | - | 1 |
5-149011634-C-G | c.1908C>G | p.D636E | Missense | 13/13 | - | 1 |
5-149011635-A-T | c.1909A>T | p.K637* | Nonsense | 13/13 | - | 1 |
5-149011645-A-G | c.1919A>G | p.N640S | Missense | 13/13 | - | 1 |
5-149011645-A-T | c.1919A>T | p.N640I | Missense | 13/13 | - | 1 |
5-149011669-T-G | c.1943T>G | p.V648G | Missense | 13/13 | - | 1 |
5-149011679-G-A | c.1953G>A | p.Q651= | Synonymous | 13/13 | - | 1 |
5-149011684-G-T | c.1958G>T | p.G653V | Missense | 13/13 | - | 2 |
5-149011699-G-C | c.1973G>C | p.G658A | Missense | 13/13 | - | 1 |
5-149011701-T-C | c.1975T>C | p.F659L | Missense | 13/13 | - | 1 |
5-149011703-C-A | c.1977C>A | p.F659L | Missense | 13/13 | - | 1 |
5-149011703-C-G | c.1977C>G | p.F659L | Missense | 13/13 | - | 1 |
5-149011705-T-C | c.1979T>C | p.L660S | Missense | 13/13 | - | 1 |
5-149011706-G-T | c.1980G>T | p.L660F | Missense | 13/13 | - | 1 |
5-149011707-G-C | c.1981G>C | p.A661P | Missense | 13/13 | - | 1 |
5-149011716-C-T | c.1990C>T | p.R664W | Missense | 13/13 | - | 2 |
5-149011717-G-A | c.1991G>A | p.R664Q | Missense | 13/13 | - | 4 |
5-149011721-C-T | c.1995C>T | p.S665= | Synonymous | 13/13 | - | 1 |
5-149011733-G-C | c.2007G>C | p.W669C | Missense | 13/13 | - | 1 |
5-149011733-G-T | c.2007G>T | p.W669C | Missense | 13/13 | - | 1 |
5-149011738-G-A | c.2012G>A | p.W671* | Nonsense | 13/13 | - | 2 |
5-149011739-G-A | c.2013G>A | p.W671* | Nonsense | 13/13 | - | 3 |
5-149011742-T-C | c.2016T>C | p.S672= | Synonymous | 13/13 | - | 1 |
5-149011746-C-T | c.2020C>T | p.P674S | Missense | 13/13 | - | 3 |
5-149011747-C-T | c.2021C>T | p.P674L | Missense | 13/13 | - | 2 |
5-149011750-C-A | c.2024C>A | p.S675Y | Missense | 13/13 | - | 1 |
5-149012051-C-A | c.*297C>A | - | 3-UTRSNV | 13/13 | - | 1 |
5-149012051-C-G | c.*297C>G | - | 3-UTRSNV | 13/13 | - | 1 |
5-149012051-C-T | c.*297C>T | - | 3-UTRSNV | 13/13 | - | 1 |
5-149012053-T-C | c.*299T>C | - | 3-UTRSNV | 13/13 | - | 1 |
5-149012782-G-A | c.*1028G>A | - | 3-UTRSNV | 13/13 | - | 1 |
5-149013587-G-A | c.*1833G>A | - | 3-UTRSNV | 13/13 | - | 1 |
5-149013713-G-C | c.*1959G>C | - | 3-UTRSNV | 13/13 | - | 1 |
5-149013844-T-A | c.*2090T>A | - | 3-UTRSNV | 13/13 | - | 1 |
5-149014418-A-G | c.*2664A>G | - | 3-UTRSNV | 13/13 | - | 2 |
5-149014418-A-T | c.*2664A>T | - | 3-UTRSNV | 13/13 | - | 2 |