Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
20-60821054-T-A | c.-129+7401T>A | - | intron_variant | - | 1/13 | 1 |
20-60821054-T-C | c.-129+7401T>C | - | intron_variant | - | 1/13 | 1 |
20-60823950-T-C | c.-128-7163T>C | - | IntronicSNV | - | 1/13 | 1 |
20-60825595-C-T | c.-128-5518C>T | - | IntronicSNV | - | 1/13 | 1 |
20-60826804-T-C | c.-128-4309T>C | - | IntronicSNV | - | 1/13 | 1 |
20-60826804-T-G | c.-128-4309T>G | - | IntronicSNV | - | 1/13 | 1 |
20-60827859-T-C | c.-128-3254T>C | - | IntronicSNV | - | 1/13 | 1 |
20-60829432-A-T | c.-128-1681A>T | - | IntronicSNV | - | 1/13 | 2 |
20-60831247-G-A | c.7G>A | p.G3R | Missense | 2/14 | - | 8 |
20-60831247-G-C | c.7G>C | p.G3R | Missense | 2/14 | - | 3 |
20-60831248-G-A | c.8G>A | p.G3E | Missense | 2/14 | - | 5 |
20-60831250-G-A | c.10G>A | p.E4K | Missense | 2/14 | - | 2 |
20-60831252-G-C | c.12G>C | p.E4D | Missense | 2/14 | - | 1 |
20-60831256-G-A | c.16G>A | p.E6K | Missense | 2/14 | - | 1 |
20-60831266-A-G | c.26A>G | p.D9G | Missense | 2/14 | - | 1 |
20-60831268-G-C | c.28G>C | p.A10P | Missense | 2/14 | - | 1 |
20-60831268-GCC-ATG | c.28_30delinsATG | p.A10M | Missense | 2/14 | - | 1 |
20-60831268-GC-TA | c.28_29delinsTA | p.A10Y | Missense | 2/14 | - | 2 |
20-60831269-C-A | c.29C>A | p.A10D | Missense | 2/14 | - | 1 |
20-60831269-CC-AG | c.29_30delinsAG | p.A10E | Missense | 2/14 | - | 1 |
20-60831269-C-G | c.29C>G | p.A10G | Missense | 2/14 | - | 1 |
20-60831271-G-A | c.31G>A | p.V11I | Missense | 2/14 | - | 1 |
20-60831275-C-T | c.35C>T | p.T12I | Missense | 2/14 | - | 1 |
20-60831300-G-A | c.37+23G>A | - | IntronicSNV | - | 2/13 | 13 |
20-60831300-G-T | c.37+23G>T | - | IntronicSNV | - | 2/13 | 11 |
20-60831429-C-A | c.37+152C>A | - | IntronicSNV | - | 2/13 | 1 |
20-60835040-T-A | c.41T>A | p.F14Y | Missense | 3/14 | - | 1 |
20-60835042-G-A | c.43G>A | p.D15N | Missense | 3/14 | - | 2 |
20-60835044-T-A | c.45T>A | p.D15E | Missense | 3/14 | - | 2 |
20-60835045-T-G | c.46T>G | p.S16A | Missense | 3/14 | - | 1 |
20-60835046-C-T | c.47C>T | p.S16F | Missense | 3/14 | - | 1 |
20-60835055-C-G | c.56C>G | p.S19C | Missense | 3/14 | - | 1 |
20-60835055-C-T | c.56C>T | p.S19F | Missense | 3/14 | - | 1 |
20-60835057-T-C | c.58T>C | p.S20P | Missense | 3/14 | - | 2 |
20-60835061-G-C | c.62G>C | p.G21A | Missense | 3/14 | - | 1 |
20-60835067-T-A | c.68T>A | p.F23Y | Missense | 3/14 | - | 2 |
20-60835070-C-T | c.71C>T | p.S24L | Missense | 3/14 | - | 2 |
20-60835072-G-A | c.73G>A | p.E25K | Missense | 3/14 | - | 2 |
20-60835074-G-A | c.75G>A | p.E25= | Synonymous | 3/14 | - | 2 |
20-60835075-G-A | c.76G>A | p.A26T | Missense | 3/14 | - | 4 |
20-60835076-C-T | c.77C>T | p.A26V | Missense | 3/14 | - | 1 |
20-60835088-T-A | c.89T>A | p.V30D | Missense | 3/14 | - | 1 |
20-60835088-T-C | c.89T>C | p.V30A | Missense | 3/14 | - | 1 |
20-60835090-A-T | c.91A>T | p.T31S | Missense | 3/14 | - | 1 |
20-60835091-C-T | c.92C>T | p.T31M | Missense | 3/14 | - | 3 |
20-60835097-T-C | c.98T>C | p.M33T | Missense | 3/14 | - | 1 |
20-60835099-A-G | c.100A>G | p.I34V | Missense | 3/14 | - | 2 |
20-60835100-T-A | c.101T>A | p.I34N | Missense | 3/14 | - | 2 |
20-60835100-T-C | c.101T>C | p.I34T | Missense | 3/14 | - | 2 |
20-60835107-A-T | c.108A>T | p.L36F | Missense | 3/14 | - | 1 |
20-60835108-G-A | c.109G>A | p.D37N | Missense | 3/14 | - | 1 |
20-60835111-A-G | c.112A>G | p.T38A | Missense | 3/14 | - | 1 |
20-60835112-C-A | c.113C>A | p.T38N | Missense | 3/14 | - | 1 |
20-60835112-C-T | c.113C>T | p.T38I | Missense | 3/14 | - | 2 |
20-60835115-G-A | c.116G>A | p.S39N | Missense | 3/14 | - | 2 |
20-60835116-C-T | c.117C>T | p.S39= | Synonymous | 3/14 | - | 1 |
20-60835123-A-G | c.124A>G | p.N42D | Missense | 3/14 | - | 1 |
20-60835124-A-G | c.125A>G | p.N42S | Missense | 3/14 | - | 1 |
20-60835127-G-A | c.128G>A | p.R43K | Missense | 3/14 | - | 1 |
20-60835127-G-T | c.128G>T | p.R43M | Missense | 3/14 | - | 1 |
20-60835133-GG-AC | c.134_135delinsAC | p.G45D | Missense | 3/14 | - | 1 |
20-60835133-G-T | c.134G>T | p.G45V | Missense | 3/14 | - | 1 |
20-60835138-A-C | c.139A>C | p.T47P | Missense | 3/14 | - | 1 |
20-60835138-AC-GA | c.139_140delinsGA | p.T47D | Missense | 3/14 | - | 1 |
20-60835138-A-G | c.139A>G | p.T47A | Missense | 3/14 | - | 1 |
20-60835140-CTG-C | c.141_142del | p.R50Afs*103 | Frameshift | 3/14 | - | 3 |
20-60835145-A-C | c.146A>C | p.E49A | Missense | 3/14 | - | 1 |
20-60835148-G-A | c.149G>A | p.R50K | Missense | 3/14 | - | 1 |
20-60835152-C-T | c.153C>T | p.P51= | Synonymous | 3/14 | - | 3 |
20-60835154-C-A | c.155C>A | p.S52Y | Missense | 3/14 | - | 1 |
20-60835154-C-T | c.155C>T | p.S52F | Missense | 3/14 | - | 1 |
20-60835151-CCT-C | c.156_157del | p.Q53Rfs*100 | Frameshift | 3/14 | - | 1 |
20-60835156-C-G | c.157C>G | p.Q53E | Missense | 3/14 | - | 4 |
20-60835156-C-T | c.157C>T | p.Q53* | Nonsense | 3/14 | - | 4 |
20-60835157-A-G | c.158A>G | p.Q53R | Missense | 3/14 | - | 3 |
20-60835157-CAA-C | c.158_159del | p.Q53Rfs*100 | Frameshift | 3/14 | - | 2 |
20-60835159-G-A | c.160G>A | p.E54K | Missense | 3/14 | - | 1 |
20-60835164-C-T | c.165C>T | p.N55= | Synonymous | 3/14 | - | 1 |
20-60835165-G-A | c.166G>A | p.G56R | Missense | 3/14 | - | 4 |
20-60835170-T-G | c.171T>G | p.I57M | Missense | 3/14 | - | 1 |
20-60835171-C-G | c.172C>G | p.Q58E | Missense | 3/14 | - | 3 |
20-60835172-A-C | c.173A>C | p.Q58P | Missense | 3/14 | - | 1 |
20-60835172-A-G | c.173A>G | p.Q58R | Missense | 3/14 | - | 2 |
20-60835178-A-G | c.179A>G | p.H60R | Missense | 3/14 | - | 1 |
20-60835175-AAC-A | c.180_181del | p.H60Qfs*93 | SpliceDonorDeletion | 3/14 | - | 1 |
20-60835183-T-C | c.182+2T>C | - | IntronicSNV | - | 3/13 | 1 |
20-60838300-C-T | c.183-372C>T | - | IntronicSNV | - | 3/13 | 1 |
20-60838673-A-T | c.184A>T | p.T62S | Missense | 4/14 | - | 1 |
20-60838676-TC-GG | c.187_188delinsGG | p.S63G | Missense | 4/14 | - | 1 |
20-60838677-C-T | c.188C>T | p.S63L | Missense | 4/14 | - | 5 |
20-60838683-C-T | c.194C>T | p.P65L | Missense | 4/14 | - | 1 |
20-60838688-C-T | c.199C>T | p.P67S | Missense | 4/14 | - | 5 |
20-60838692-T-C | c.203T>C | p.M68T | Missense | 4/14 | - | 1 |
20-60838697-A-G | c.208A>G | p.S70G | Missense | 4/14 | - | 1 |
20-60838698-G-A | c.209G>A | p.S70N | Missense | 4/14 | - | 3 |
20-60838704-G-A | c.215G>A | p.S72N | Missense | 4/14 | - | 1 |
20-60838705-C-T | c.216C>T | p.S72= | Synonymous | 4/14 | - | 1 |
20-60838706-G-A | c.217G>A | p.D73N | Missense | 4/14 | - | 1 |
20-60838709-T-A | c.220T>A | p.F74I | Missense | 4/14 | - | 1 |
20-60838712-AG-CT | c.223_224inv | p.S75L | Missense | 4/14 | - | 1 |
20-60838712-AG-TT | c.223_224delinsTT | p.S75F | Missense | 4/14 | - | 1 |
20-60838714-C-G | c.225C>G | p.S75R | Missense | 4/14 | - | 2 |
20-60838714-C-T | c.225C>T | p.S75= | Synonymous | 4/14 | - | 3 |
20-60838715-G-A | c.226G>A | p.V76M | Missense | 4/14 | - | 1 |
20-60838722-C-A | c.233C>A | p.T78N | Missense | 4/14 | - | 1 |
20-60838732-G-T | c.243G>T | p.K81N | Missense | 4/14 | - | 1 |
20-60838735-G-T | c.246G>T | p.K82N | Missense | 4/14 | - | 1 |
20-60838741-T-C | c.252T>C | p.V84= | Synonymous | 4/14 | - | 1 |
20-60838744-C-T | c.255C>T | p.G85= | Synonymous | 4/14 | - | 1 |
20-60838746-T-C | c.257T>C | p.L86P | Missense | 4/14 | - | 1 |
20-60838755-C-T | c.258+8C>T | - | IntronicSNV | - | 4/13 | 1 |
20-60838864-A-G | c.258+117A>G | - | IntronicSNV | - | 4/13 | 1 |
20-60838870-T-C | c.258+123T>C | - | IntronicSNV | - | 4/13 | 1 |
20-60839625-CT-C | c.258+887del | - | IntronicDeletion | - | 4/13 | 1 |
20-60839741-C-T | c.258+994C>T | - | IntronicSNV | - | 4/13 | 1 |
20-60847086-C-T | c.259-95C>T | - | IntronicSNV | - | 4/13 | 6 |
20-60847181-G-A | c.259G>A | p.E87K | Missense | 5/14 | - | 5 |
20-60847186-G-A | c.264G>A | p.L88= | Synonymous | 5/14 | - | 2 |
20-60847191-A-C | c.269A>C | p.K90T | Missense | 5/14 | - | 1 |
20-60847197-C-G | c.275C>G | p.T92R | Missense | 5/14 | - | 1 |
20-60847197-C-T | c.275C>T | p.T92M | Missense | 5/14 | - | 3 |
20-60847200-T-A | c.278T>A | p.M93K | Missense | 5/14 | - | 1 |
20-60847203-C-T | c.281C>T | p.P94L | Missense | 5/14 | - | 2 |
20-60847205-A-G | c.283A>G | p.I95V | Missense | 5/14 | - | 1 |
20-60847205-A-T | c.283A>T | p.I95F | Missense | 5/14 | - | 1 |
20-60847208-G-A | c.286G>A | p.A96T | Missense | 5/14 | - | 1 |
20-60847216-C-T | c.294C>T | p.N98= | Synonymous | 5/14 | - | 1 |
20-60847217-G-A | c.295G>A | p.E99K | Missense | 5/14 | - | 2 |
20-60847218-A-G | c.296A>G | p.E99G | Missense | 5/14 | - | 1 |
20-60847218-GA-G | c.296del | p.E99Gfs*3 | Frameshift | 5/14 | - | 1 |
20-60847220-C-T | c.298C>T | p.P100S | Missense | 5/14 | - | 6 |
20-60847222-T-A | c.300T>A | p.P100= | Synonymous | 5/14 | - | 1 |
20-60847224-T-G | c.302T>G | p.L101R | Missense | 5/14 | - | 1 |
20-60847226-AG-CT | c.304_305inv | p.S102L | Missense | 5/14 | - | 1 |
20-60847227-G-T | c.305G>T | p.S102I | Missense | 5/14 | - | 1 |
20-60847229-T-A | c.307T>A | p.F103I | Missense | 5/14 | - | 1 |
20-60847231-C-T | c.309C>T | p.F103= | Synonymous | 5/14 | - | 3 |
20-60847232-T-C | c.310T>C | p.L104= | Synonymous | 5/14 | - | 1 |
20-60847234-G-A | c.312G>A | p.L104= | Synonymous | 5/14 | - | 1 |
20-60847235-C-T | c.313C>T | p.Q105* | Nonsense | 5/14 | - | 1 |
20-60847239-G-A | c.317G>A | p.R106Q | Missense | 5/14 | - | 4 |
20-60847240-G-A | c.318G>A | p.R106= | Synonymous | 5/14 | - | 1 |
20-60847245-C-T | c.323C>T | p.T108M | Missense | 5/14 | - | 3 |
20-60847253-A-G | c.331A>G | p.M111V | Missense | 5/14 | - | 2 |
20-60847255-G-A | c.333G>A | p.M111I | Missense | 5/14 | - | 1 |
20-60847255-G-C | c.333G>C | p.M111I | Missense | 5/14 | - | 1 |
20-60847255-G-T | c.333G>T | p.M111I | Missense | 5/14 | - | 1 |
20-60847256-G-A | c.334G>A | p.E112K | Missense | 5/14 | - | 1 |
20-60847257-A-C | c.335A>C | p.E112A | Missense | 5/14 | - | 1 |
20-60847259-C-G | c.337C>G | p.H113D | Missense | 5/14 | - | 1 |
20-60847260-A-G | c.338A>G | p.H113R | Missense | 5/14 | - | 1 |
20-60847261-C-T | c.339C>T | p.H113= | Synonymous | 5/14 | - | 3 |
20-60847262-G-A | c.340G>A | p.V114M | Missense | 5/14 | - | 3 |
20-60847262-G-C | c.340G>C | p.V114L | Missense | 5/14 | - | 1 |
20-60847262-G-T | c.340G>T | p.V114L | Missense | 5/14 | - | 1 |
20-60847268-C-G | c.346C>G | p.L116V | Missense | 5/14 | - | 1 |
20-60847268-C-T | c.346C>T | p.L116F | Missense | 5/14 | - | 1 |
20-60847270-C-T | c.348C>T | p.L116= | Synonymous | 5/14 | - | 3 |
20-60847275-A-C | c.353A>C | p.H118P | Missense | 5/14 | - | 2 |
20-60847277-A-G | c.355A>G | p.R119G | Missense | 5/14 | - | 1 |
20-60847286-T-C | c.364T>C | p.C122R | Missense | 5/14 | - | 1 |
20-60847287-G-A | c.365G>A | p.C122Y | Missense | 5/14 | - | 1 |
20-60847288-C-G | c.366C>G | p.C122W | Missense | 5/14 | - | 1 |
20-60847289-C-T | c.367C>T | p.Q123* | Nonsense | 5/14 | - | 1 |
20-60847293-C-T | c.371C>T | p.P124L | Missense | 5/14 | - | 1 |
20-60847294-C-A | c.372C>A | p.P124= | Synonymous | 5/14 | - | 1 |
20-60847294-C-G | c.372C>G | p.P124= | Synonymous | 5/14 | - | 1 |
20-60847294-C-T | c.372C>T | p.P124= | Synonymous | 5/14 | - | 1 |
20-60847295-C-G | c.373C>G | p.Q125E | Missense | 5/14 | - | 1 |
20-60847296-A-G | c.374A>G | p.Q125R | Missense | 5/14 | - | 1 |
20-60847298-C-G | c.376C>G | p.P126A | Missense | 5/14 | - | 1 |
20-60847298-C-T | c.376C>T | p.P126S | Missense | 5/14 | - | 1 |
20-60847299-C-T | c.377C>T | p.P126L | Missense | 5/14 | - | 5 |
20-60847301-C-T | c.379C>T | p.L127= | Synonymous | 5/14 | - | 1 |
20-60847302-T-G | c.380T>G | p.L127R | Missense | 5/14 | - | 1 |
20-60847303-G-A | c.381G>A | p.L127= | Synonymous | 5/14 | - | 1 |
20-60847304-G-A | c.382G>A | p.E128K | Missense | 5/14 | - | 1 |
20-60847306-G-A | c.384G>A | p.E128= | Synonymous | 5/14 | - | 1 |
20-60847306-G-C | c.384G>C | p.E128D | Missense | 5/14 | - | 1 |
20-60847306-G-T | c.384G>T | p.E128D | Missense | 5/14 | - | 1 |
20-60847309-G-A | c.387G>A | p.R129= | Synonymous | 5/14 | - | 1 |
20-60847310-A-T | c.388A>T | p.M130L | Missense | 5/14 | - | 2 |
20-60847359-T-C | c.393+44T>C | - | IntronicSNV | - | 5/13 | 1 |
20-60848248-G-T | c.394-117G>T | - | IntronicSNV | - | 5/13 | 2 |
20-60848345-C-A | c.394-20C>A | - | IntronicSNV | - | 5/13 | 1 |
20-60848345-C-T | c.394-20C>T | - | IntronicSNV | - | 5/13 | 1 |
20-60848348-C-G | c.394-17C>G | - | IntronicSNV | - | 5/13 | 8 |
20-60848348-C-T | c.394-17C>T | - | IntronicSNV | - | 5/13 | 8 |
20-60848365-T-G | c.394T>G | p.S132A | Missense | 6/14 | - | 1 |
20-60848366-C-G | c.395C>G | p.S132C | Missense | 6/14 | - | 1 |
20-60848371-G-A | c.400G>A | p.A134T | Missense | 6/14 | - | 1 |
20-60848375-C-G | c.404C>G | p.A135G | Missense | 6/14 | - | 1 |
20-60848381-C-A | c.410C>A | p.A137D | Missense | 6/14 | - | 1 |
20-60848383-G-A | c.412G>A | p.V138I | Missense | 6/14 | - | 1 |
20-60848387-C-T | c.416C>T | p.S139L | Missense | 6/14 | - | 4 |
20-60848388-G-A | c.417G>A | p.S139= | Synonymous | 6/14 | - | 1 |
20-60848399-C-T | c.428C>T | p.S143F | Missense | 6/14 | - | 2 |
20-60848401-C-G | c.430C>G | p.Q144E | Missense | 6/14 | - | 1 |
20-60848402-A-C | c.431A>C | p.Q144P | Missense | 6/14 | - | 1 |
20-60848407-G-A | c.436G>A | p.E146K | Missense | 6/14 | - | 2 |
20-60848415-C-A | c.444C>A | p.T148= | Synonymous | 6/14 | - | 1 |
20-60848415-C-G | c.444C>G | p.T148= | Synonymous | 6/14 | - | 1 |
20-60848415-C-T | c.444C>T | p.T148= | Synonymous | 6/14 | - | 1 |
20-60848416-G-A | c.445G>A | p.G149S | Missense | 6/14 | - | 2 |
20-60848417-G-A | c.446G>A | p.G149D | Missense | 6/14 | - | 1 |
20-60848421-A-C | c.450A>C | p.K150N | Missense | 6/14 | - | 1 |
20-60848421-A-T | c.450A>T | p.K150N | Missense | 6/14 | - | 1 |
20-60848427-T-C | c.456T>C | p.F152= | Synonymous | 6/14 | - | 2 |
20-60848428-A-C | c.457A>C | p.N153H | Missense | 6/14 | - | 2 |
20-60848428-A-G | c.457A>G | p.N153D | Missense | 6/14 | - | 1 |
20-60848431-C-T | c.460C>T | p.P154S | Missense | 6/14 | - | 1 |
20-60848433-A-T | c.462A>T | p.P154= | Synonymous | 6/14 | - | 1 |
20-60848434-CTC-ATG | c.463_465delinsATG | p.L155M | Missense | 6/14 | - | 1 |
20-60848437-T-C | c.466T>C | p.L156= | Synonymous | 6/14 | - | 1 |
20-60848439-G-C | c.468G>C | p.L156F | Missense | 6/14 | - | 2 |
20-60848439-G-T | c.468G>T | p.L156F | Missense | 6/14 | - | 1 |
20-60848443-G-A | c.472G>A | p.E158K | Missense | 6/14 | - | 3 |
20-60848447-C-T | c.476C>T | p.T159M | Missense | 6/14 | - | 2 |
20-60848448-G-A | c.477G>A | p.T159= | Synonymous | 6/14 | - | 1 |
20-60848448-G-C | c.477G>C | p.T159= | Synonymous | 6/14 | - | 1 |
20-60848448-G-T | c.477G>T | p.T159= | Synonymous | 6/14 | - | 1 |
20-60848450-A-G | c.479A>G | p.Y160C | Missense | 6/14 | - | 1 |
20-60848457-A-C | c.486A>C | p.L162F | Missense | 6/14 | - | 1 |
20-60848835-C-T | c.491+373C>T | - | IntronicSNV | - | 6/13 | 1 |
20-60853433-A-G | c.492-780A>G | - | IntronicSNV | - | 6/13 | 1 |
20-60853564-A-G | c.492-649A>G | - | IntronicSNV | - | 6/13 | 1 |
20-60853732-A-G | c.492-481A>G | - | IntronicSNV | - | 6/13 | 1 |
20-60854054-A-G | c.492-159A>G | - | IntronicSNV | - | 6/13 | 5 |
20-60854054-A-T | c.492-159A>T | - | IntronicSNV | - | 6/13 | 5 |
20-60854213-G-A | c.492G>A | p.R164= | Synonymous | 7/14 | - | 2 |
20-60854213-G-C | c.492G>C | p.R164S | Missense | 7/14 | - | 1 |
20-60854213-G-GA | c.492_493insA | p.E165Rfs*29 | SpliceAcceptorInsertion | 7/14 | - | 1 |
20-60854213-G-GC | c.492_493insC | p.E165Rfs*29 | SpliceAcceptorInsertion | 7/14 | - | 1 |
20-60854213-G-GT | c.492_493insT | p.E165* | SpliceAcceptorInsertion | 7/14 | - | 1 |
20-60854213-G-T | c.492G>T | p.R164S | Missense | 7/14 | - | 1 |
20-60854211-A-AG | c.493dup | p.E165Gfs*29 | SpliceAcceptorInsertion | 7/14 | - | 1 |
20-60854214-G-A | c.493G>A | p.E165K | Missense | 7/14 | - | 1 |
20-60854214-G-T | c.493G>T | p.E165* | Nonsense | 7/14 | - | 2 |
20-60854217-G-C | c.496G>C | p.D166H | Missense | 7/14 | - | 1 |
20-60854220-T-A | c.499T>A | p.L167I | Missense | 7/14 | - | 1 |
20-60854224-G-C | c.503G>C | p.G168A | Missense | 7/14 | - | 1 |
20-60854231-A-T | c.510A>T | p.R170S | Missense | 7/14 | - | 3 |
20-60854235-A-G | c.514A>G | p.I172V | Missense | 7/14 | - | 1 |
20-60854236-T-A | c.515T>A | p.I172K | Missense | 7/14 | - | 1 |
20-60854239-C-T | c.518C>T | p.S173L | Missense | 7/14 | - | 4 |
20-60854252-T-C | c.531T>C | p.S177= | Synonymous | 7/14 | - | 3 |
20-60854256-C-T | c.535C>T | p.H179Y | Missense | 7/14 | - | 3 |
20-60854257-A-C | c.536A>C | p.H179P | Missense | 7/14 | - | 1 |
20-60854257-CA-C | c.536del | p.H179Pfs*71 | Frameshift | 7/14 | - | 3 |
20-60854258-C-A | c.537C>A | p.H179Q | Missense | 7/14 | - | 3 |
20-60854258-C-T | c.537C>T | p.H179= | Synonymous | 7/14 | - | 2 |
20-60854259-C-T | c.538C>T | p.P180S | Missense | 7/14 | - | 2 |
20-60854261-C-A | c.540C>A | p.P180= | Synonymous | 7/14 | - | 1 |
20-60854261-C-G | c.540C>G | p.P180= | Synonymous | 7/14 | - | 1 |
20-60854261-C-T | c.540C>T | p.P180= | Synonymous | 7/14 | - | 1 |
20-60854262-C-G | c.541C>G | p.P181A | Missense | 7/14 | - | 1 |
20-60854263-C-T | c.542C>T | p.P181L | Missense | 7/14 | - | 1 |
20-60854257-A-AC | c.543dup | p.I182Hfs*12 | Frameshift | 7/14 | - | 6 |
20-60854257-AC-A | c.543del | p.I182Sfs*68 | Frameshift | 7/14 | - | 4 |
20-60854268-A-G | c.547A>G | p.S183G | Missense | 7/14 | - | 2 |
20-60854271-G-A | c.550G>A | p.A184T | Missense | 7/14 | - | 4 |
20-60854272-C-T | c.551C>T | p.A184V | Missense | 7/14 | - | 1 |
20-60854279-C-G | c.558C>G | p.H186Q | Missense | 7/14 | - | 1 |
20-60854282-G-A | c.561G>A | p.S187= | Synonymous | 7/14 | - | 1 |
20-60854282-G-T | c.561G>T | p.S187= | Synonymous | 7/14 | - | 1 |
20-60854291-CA-C | c.572del | p.N191Tfs*59 | Frameshift | 7/14 | - | 2 |
20-60854298-G-A | c.577G>A | p.D193N | Missense | 7/14 | - | 1 |
20-60854299-A-G | c.578A>G | p.D193G | Missense | 7/14 | - | 1 |
20-60854304-C-A | c.583C>A | p.L195M | Missense | 7/14 | - | 3 |
20-60854308-T-TC | c.589dup | p.H197Pfs*31 | Frameshift | 7/14 | - | 1 |
20-60854310-C-T | c.589C>T | p.H197Y | Missense | 7/14 | - | 2 |
20-60854313-G-A | c.592G>A | p.G198S | Missense | 7/14 | - | 1 |
20-60854319-A-G | c.598A>G | p.I200V | Missense | 7/14 | - | 1 |
20-60854320-T-C | c.599T>C | p.I200T | Missense | 7/14 | - | 1 |
20-60854321-C-A | c.600C>A | p.I200= | Synonymous | 7/14 | - | 1 |
20-60854321-C-T | c.600C>T | p.I200= | Synonymous | 7/14 | - | 2 |
20-60854323-A-C | c.602A>C | p.Y201S | Missense | 7/14 | - | 1 |
20-60854327-C-T | c.606C>T | p.P202= | Synonymous | 7/14 | - | 1 |
20-60854328-A-C | c.607A>C | p.K203Q | Missense | 7/14 | - | 2 |
20-60854328-A-G | c.607A>G | p.K203E | Missense | 7/14 | - | 1 |
20-60854330-G-T | c.609G>T | p.K203N | Missense | 7/14 | - | 1 |
20-60854331-C-G | c.610C>G | p.L204V | Missense | 7/14 | - | 1 |
20-60854332-T-C | c.611T>C | p.L204P | Missense | 7/14 | - | 3 |
20-60854343-G-A | c.622G>A | p.G208S | Missense | 7/14 | - | 1 |
20-60854343-G-T | c.622G>T | p.G208C | Missense | 7/14 | - | 1 |
20-60854344-G-A | c.623G>A | p.G208D | Missense | 7/14 | - | 2 |
20-60854344-G-T | c.623G>T | p.G208V | Missense | 7/14 | - | 1 |
20-60854348-A-G | c.627A>G | p.K209= | Synonymous | 7/14 | - | 1 |
20-60854352-G-A | c.631G>A | p.V211M | Missense | 7/14 | - | 1 |
20-60854352-G-C | c.631G>C | p.V211L | Missense | 7/14 | - | 1 |
20-60854352-G-T | c.631G>T | p.V211L | Missense | 7/14 | - | 2 |
20-60854354-G-A | c.633G>A | p.V211= | Synonymous | 7/14 | - | 3 |
20-60854358-G-A | c.637G>A | p.A213T | Missense | 7/14 | - | 3 |
20-60854359-C-T | c.638C>T | p.A213V | Missense | 7/14 | - | 1 |
20-60854360-G-A | c.639G>A | p.A213= | Synonymous | 7/14 | - | 2 |
20-60854361-G-A | c.640G>A | p.E214K | Missense | 7/14 | - | 1 |
20-60854363-G-T | c.642G>T | p.E214D | Missense | 7/14 | - | 1 |
20-60854364-C-A | c.643C>A | p.P215T | Missense | 7/14 | - | 1 |
20-60854366-C-T | c.645C>T | p.P215= | Synonymous | 7/14 | - | 2 |
20-60854367-C-T | c.646C>T | p.R216* | Nonsense | 7/14 | - | 3 |
20-60854368-G-A | c.647G>A | p.R216Q | Missense | 7/14 | - | 2 |
20-60854368-GA-AT | c.647_648delinsAT | p.R216H | Missense | 7/14 | - | 1 |
20-60854373-A-G | c.652A>G | p.T218A | Missense | 7/14 | - | 1 |
20-60854374-C-T | c.653C>T | p.T218I | Missense | 7/14 | - | 1 |
20-60854377-T-G | c.656T>G | p.I219S | Missense | 7/14 | - | 1 |
20-60854378-C-A | c.657C>A | p.I219= | Synonymous | 7/14 | - | 1 |
20-60854378-C-T | c.657C>T | p.I219= | Synonymous | 7/14 | - | 3 |
20-60854380-C-T | c.659C>T | p.T220I | Missense | 7/14 | - | 1 |
20-60854381-C-T | c.660C>T | p.T220= | Synonymous | 7/14 | - | 2 |
20-60854383-T-C | c.662T>C | p.L221P | Missense | 7/14 | - | 3 |
20-60854382-C-T | c.661C>T | p.L221= | Synonymous | 7/14 | - | 2 |
20-60854384-G-A | c.663G>A | p.L221= | Synonymous | 7/14 | - | 1 |
20-60854384-G-C | c.663G>C | p.L221= | Synonymous | 7/14 | - | 1 |
20-60854384-G-T | c.663G>T | p.L221= | Synonymous | 7/14 | - | 1 |
20-60854386-A-G | c.665A>G | p.E222G | Missense | 7/14 | - | 1 |
20-60854388-C-T | c.667C>T | p.L223= | Synonymous | 7/14 | - | 1 |
20-60854390-G-A | c.669G>A | p.L223= | Synonymous | 7/14 | - | 1 |
20-60854390-G-C | c.669G>C | p.L223= | Synonymous | 7/14 | - | 1 |
20-60854390-G-T | c.669G>T | p.L223= | Synonymous | 7/14 | - | 1 |
20-60854391-C-T | c.670C>T | p.L224F | Missense | 7/14 | - | 2 |
20-60854394-A-C | c.673A>C | p.K225Q | Missense | 7/14 | - | 1 |
20-60854994-G-A | c.674+599G>A | - | IntronicSNV | - | 7/13 | 2 |
20-60855449-C-T | c.675-665C>T | - | IntronicSNV | - | 7/13 | 1 |
20-60855970-C-G | c.675-144C>G | - | IntronicSNV | - | 7/13 | 2 |
20-60855970-C-T | c.675-144C>T | - | IntronicSNV | - | 7/13 | 2 |
20-60856015-G-A | c.675-99G>A | - | IntronicSNV | - | 7/13 | 2 |
20-60856119-A-G | c.680A>G | p.N227S | Missense | 8/14 | - | 2 |
20-60856130-A-T | c.691A>T | p.T231S | Missense | 8/14 | - | 1 |
20-60856131-C-A | c.692C>A | p.T231N | Missense | 8/14 | - | 1 |
20-60856131-C-T | c.692C>T | p.T231I | Missense | 8/14 | - | 1 |
20-60856132-C-T | c.693C>T | p.T231= | Synonymous | 8/14 | - | 2 |
20-60856135-G-C | c.696G>C | p.W232C | Missense | 8/14 | - | 1 |
20-60856135-G-T | c.696G>T | p.W232C | Missense | 8/14 | - | 1 |
20-60856143-C-T | c.704C>T | p.P235L | Missense | 8/14 | - | 2 |
20-60856146-C-T | c.707C>T | p.T236I | Missense | 8/14 | - | 1 |
20-60856152-G-A | c.713G>A | p.C238Y | Missense | 8/14 | - | 1 |
20-60856153-C-T | c.714C>T | p.C238= | Synonymous | 8/14 | - | 3 |
20-60856154-G-A | c.715G>A | p.V239I | Missense | 8/14 | - | 4 |
20-60856156-C-A | c.717C>A | p.V239= | Synonymous | 8/14 | - | 2 |
20-60856161-A-G | c.722A>G | p.N241S | Missense | 8/14 | - | 1 |
20-60856163-G-A | c.724G>A | p.V242I | Missense | 8/14 | - | 3 |
20-60856166-A-G | c.727A>G | p.I243V | Missense | 8/14 | - | 1 |
20-60856171-C-A | c.732C>A | p.I244= | Synonymous | 8/14 | - | 1 |
20-60856171-C-T | c.732C>T | p.I244= | Synonymous | 8/14 | - | 2 |
20-60856172-G-A | c.733G>A | p.G245R | Missense | 8/14 | - | 3 |
20-60856178-C-A | c.739C>A | p.L247M | Missense | 8/14 | - | 1 |
20-60856181-T-A | c.742T>A | p.W248R | Missense | 8/14 | - | 1 |
20-60856181-T-C | c.742T>C | p.W248R | Missense | 8/14 | - | 1 |
20-60856186-A-G | c.747A>G | p.I249M | Missense | 8/14 | - | 1 |
20-60856194-A-G | c.755A>G | p.Y252C | Missense | 8/14 | - | 1 |
20-60856206-A-G | c.767A>G | p.E256G | Missense | 8/14 | - | 1 |
20-60856207-G-T | c.768G>T | p.E256D | Missense | 8/14 | - | 1 |
20-60856238-G-A | c.782+17G>A | - | IntronicSNV | - | 8/13 | 1 |
20-60856281-G-A | c.782+60G>A | - | IntronicSNV | - | 8/13 | 5 |
20-60856281-G-C | c.782+60G>C | - | IntronicSNV | - | 8/13 | 3 |
20-60856520-C-T | c.782+299C>T | - | IntronicSNV | - | 8/13 | 1 |
20-60856846-A-G | c.783A>G | p.R261= | Synonymous | 9/14 | - | 1 |
20-60856847-A-G | c.784A>G | p.T262A | Missense | 9/14 | - | 1 |
20-60856850-GGA-TGT | c.787_789delinsTGT | p.G263C | Missense | 9/14 | - | 1 |
20-60856853-C-G | c.790C>G | p.H264D | Missense | 9/14 | - | 1 |
20-60856855-T-G | c.792T>G | p.H264Q | Missense | 9/14 | - | 1 |
20-60856859-T-C | c.796T>C | p.C266R | Missense | 9/14 | - | 1 |
20-60856862-G-A | c.799G>A | p.V267M | Missense | 9/14 | - | 1 |
20-60856863-T-C | c.800T>C | p.V267A | Missense | 9/14 | - | 1 |
20-60856865-C-T | c.802C>T | p.L268F | Missense | 9/14 | - | 1 |
20-60856870-C-T | c.807C>T | p.H269= | Synonymous | 9/14 | - | 1 |
20-60856875-A-G | c.812A>G | p.K271R | Missense | 9/14 | - | 2 |
20-60856877-C-T | c.814C>T | p.P272S | Missense | 9/14 | - | 4 |
20-60856879-G-A | c.816G>A | p.P272= | Synonymous | 9/14 | - | 1 |
20-60856879-G-T | c.816G>T | p.P272= | Synonymous | 9/14 | - | 1 |
20-60856880-T-G | c.817T>G | p.C273G | Missense | 9/14 | - | 2 |
20-60856893-G-A | c.830G>A | p.G277E | Missense | 9/14 | - | 1 |
20-60856895-A-G | c.832A>G | p.K278E | Missense | 9/14 | - | 1 |
20-60856896-A-G | c.833A>G | p.K278R | Missense | 9/14 | - | 2 |
20-60856901-C-T | c.838C>T | p.L280F | Missense | 9/14 | - | 2 |
20-60856904-C-G | c.841C>G | p.H281D | Missense | 9/14 | - | 2 |
20-60856904-C-T | c.841C>T | p.H281Y | Missense | 9/14 | - | 1 |
20-60856907-A-G | c.844A>G | p.K282E | Missense | 9/14 | - | 2 |
20-60856908-A-G | c.845A>G | p.K282R | Missense | 9/14 | - | 1 |
20-60856919-C-T | c.856C>T | p.H286Y | Missense | 9/14 | - | 1 |
20-60856922-A-G | c.859A>G | p.I287V | Missense | 9/14 | - | 1 |
20-60856923-T-G | c.860T>G | p.I287S | Missense | 9/14 | - | 1 |
20-60856925-C-T | c.862C>T | p.Q288* | Nonsense | 9/14 | - | 1 |
20-60856934-A-T | c.871A>T | p.N291Y | Missense | 9/14 | - | 1 |
20-60856943-C-T | c.872+8C>T | - | IntronicSNV | - | 9/13 | 3 |
20-60857034-G-A | c.872+99G>A | - | IntronicSNV | - | 9/13 | 6 |
20-60858831-C-A | c.873-271C>A | - | IntronicSNV | - | 9/13 | 1 |
20-60858831-C-G | c.873-271C>G | - | IntronicSNV | - | 9/13 | 1 |
20-60858831-C-T | c.873-271C>T | - | IntronicSNV | - | 9/13 | 1 |
20-60858917-G-A | c.873-185G>A | - | IntronicSNV | - | 9/13 | 1 |
20-60858917-G-C | c.873-185G>C | - | IntronicSNV | - | 9/13 | 1 |
20-60858917-G-T | c.873-185G>T | - | IntronicSNV | - | 9/13 | 1 |
20-60859108-G-T | c.879G>T | p.K293N | Missense | 10/14 | - | 1 |
20-60859109-A-C | c.880A>C | p.K294Q | Missense | 10/14 | - | 1 |
20-60859109-A-G | c.880A>G | p.K294E | Missense | 10/14 | - | 2 |
20-60859110-A-G | c.881A>G | p.K294R | Missense | 10/14 | - | 2 |
20-60859115-T-G | c.886T>G | p.F296V | Missense | 10/14 | - | 1 |
20-60859118-A-G | c.889A>G | p.M297V | Missense | 10/14 | - | 2 |
20-60859119-T-C | c.890T>C | p.M297T | Missense | 10/14 | - | 1 |
20-60859121-A-G | c.892A>G | p.I298V | Missense | 10/14 | - | 3 |
20-60859122-T-C | c.893T>C | p.I298T | Missense | 10/14 | - | 1 |
20-60859123-C-A | c.894C>A | p.I298= | Synonymous | 10/14 | - | 1 |
20-60859123-C-T | c.894C>T | p.I298= | Synonymous | 10/14 | - | 2 |
20-60859124-T-A | c.895T>A | p.Y299N | Missense | 10/14 | - | 1 |
20-60859125-A-G | c.896A>G | p.Y299C | Missense | 10/14 | - | 1 |
20-60859127-G-A | c.898G>A | p.G300S | Missense | 10/14 | - | 1 |
20-60859127-G-T | c.898G>T | p.G300C | Missense | 10/14 | - | 1 |
20-60859128-G-C | c.899G>C | p.G300A | Missense | 10/14 | - | 1 |
20-60859134-G-A | c.905G>A | p.W302* | Nonsense | 10/14 | - | 2 |
20-60859135-G-A | c.906G>A | p.W302* | Nonsense | 10/14 | - | 3 |
20-60859137-C-T | c.908C>T | p.T303M | Missense | 10/14 | - | 1 |
20-60859155-T-A | c.926T>A | p.I309K | Missense | 10/14 | - | 2 |
20-60859156-A-G | c.927A>G | p.I309M | Missense | 10/14 | - | 1 |
20-60859157-G-A | c.928G>A | p.D310N | Missense | 10/14 | - | 1 |
20-60859158-A-G | c.929A>G | p.D310G | Missense | 10/14 | - | 1 |
20-60859160-C-G | c.931C>G | p.P311A | Missense | 10/14 | - | 1 |
20-60859160-C-T | c.931C>T | p.P311S | Missense | 10/14 | - | 2 |
20-60859163-G-A | c.934G>A | p.V312I | Missense | 10/14 | - | 1 |
20-60859166-T-G | c.937T>G | p.S313A | Missense | 10/14 | - | 7 |
20-60859167-CG-GT | c.938_939delinsGT | p.S313C | Missense | 10/14 | - | 1 |
20-60859167-C-T | c.938C>T | p.S313L | Missense | 10/14 | - | 2 |
20-60859175-TC-GG | c.946_947delinsGG | p.S316G | Missense | 10/14 | - | 1 |
20-60859176-C-T | c.947C>T | p.S316F | Missense | 10/14 | - | 3 |
20-60859179-T-C | c.950T>C | p.F317S | Missense | 10/14 | - | 1 |
20-60859181-A-G | c.952A>G | p.K318E | Missense | 10/14 | - | 1 |
20-60859182-A-G | c.953A>G | p.K318R | Missense | 10/14 | - | 1 |
20-60859187-C-G | c.958C>G | p.Q320E | Missense | 10/14 | - | 1 |
20-60859188-A-T | c.959A>T | p.Q320L | Missense | 10/14 | - | 2 |
20-60859190-G-T | c.961G>T | p.E321* | Nonsense | 10/14 | - | 1 |
20-60859192-AG-A | c.963del | p.R322Gfs*6 | Frameshift | 10/14 | - | 1 |
20-60859192-G-A | c.963G>A | p.E321= | Synonymous | 10/14 | - | 1 |
20-60859194-G-T | c.965G>T | p.R322M | Missense | 10/14 | - | 1 |
20-60859193-A-C | c.964A>C | p.R322= | Synonymous | 10/14 | - | 1 |
20-60859195-G-A | c.966G>A | p.R322= | Synonymous | 10/14 | - | 1 |
20-60859196-AG-CA | c.967_968delinsCA | p.R323Q | Missense | 10/14 | - | 1 |
20-60859199-G-A | c.970G>A | p.G324S | Missense | 10/14 | - | 1 |
20-60859206-A-G | c.977A>G | p.H326R | Missense | 10/14 | - | 1 |
20-60859212-G-C | c.983G>C | p.R328T | Missense | 10/14 | - | 1 |
20-60859212-G-T | c.983G>T | p.R328I | Missense | 10/14 | - | 1 |
20-60859215-A-G | c.986A>G | p.K329R | Missense | 10/14 | - | 2 |
20-60859215-A-T | c.986A>T | p.K329M | Missense | 10/14 | - | 1 |
20-60859217-G-A | c.988G>A | p.A330T | Missense | 10/14 | - | 1 |
20-60859219-C-T | c.990C>T | p.A330= | Synonymous | 10/14 | - | 2 |
20-60859221-A-G | c.992A>G | p.K331R | Missense | 10/14 | - | 1 |
20-60859223-C-A | c.994C>A | p.L332M | Missense | 10/14 | - | 1 |
20-60859327-TG-T | c.996+105del | - | IntronicDeletion | - | 10/13 | 1 |
20-60859330-G-T | c.996+105G>T | - | IntronicSNV | - | 10/13 | 1 |
20-60859381-A-G | c.996+156A>G | - | IntronicSNV | - | 10/13 | 5 |
20-60859430-ATT-A | c.996+218_996+219del | - | IntronicDeletion | - | 10/13 | 1 |
20-60859430-A-AT | c.996+219dup | - | IntronicInsertion | - | 10/13 | 1 |
20-60859430-AT-A | c.996+219del | - | IntronicDeletion | - | 10/13 | 1 |
20-60859444-T-C | c.996+219T>C | - | IntronicSNV | - | 10/13 | 1 |
20-60859486-A-G | c.996+261A>G | - | IntronicSNV | - | 10/13 | 4 |
20-60859486-A-T | c.996+261A>T | - | IntronicSNV | - | 10/13 | 3 |
20-60859537-A-G | c.996+312A>G | - | IntronicSNV | - | 10/13 | 3 |
20-60860799-T-A | c.997-840T>A | - | IntronicSNV | - | 10/13 | 1 |
20-60860799-T-C | c.997-840T>C | - | IntronicSNV | - | 10/13 | 1 |
20-60860916-G-A | c.997-723G>A | - | IntronicSNV | - | 10/13 | 1 |
20-60860944-C-T | c.997-695C>T | - | IntronicSNV | - | 10/13 | 1 |
20-60861061-G-A | c.997-578G>A | - | IntronicSNV | - | 10/13 | 2 |
20-60861640-A-G | c.998A>G | p.D333G | Missense | 11/14 | - | 1 |
20-60861642-G-A | c.1000G>A | p.E334K | Missense | 11/14 | - | 2 |
20-60861646-A-G | c.1004A>G | p.D335G | Missense | 11/14 | - | 1 |
20-60861648-T-C | c.1006T>C | p.S336P | Missense | 11/14 | - | 1 |
20-60861648-T-G | c.1006T>G | p.S336A | Missense | 11/14 | - | 2 |
20-60861649-C-T | c.1007C>T | p.S336F | Missense | 11/14 | - | 1 |
20-60861650-C-A | c.1008C>A | p.S336= | Synonymous | 11/14 | - | 2 |
20-60861650-C-G | c.1008C>G | p.S336= | Synonymous | 11/14 | - | 2 |
20-60861650-C-T | c.1008C>T | p.S336= | Synonymous | 11/14 | - | 2 |
20-60861651-G-A | c.1009G>A | p.G337R | Missense | 11/14 | - | 1 |
20-60861652-G-A | c.1010G>A | p.G337E | Missense | 11/14 | - | 1 |
20-60861657-G-A | c.1015G>A | p.A339T | Missense | 11/14 | - | 1 |
20-60861657-G-T | c.1015G>T | p.A339S | Missense | 11/14 | - | 1 |
20-60861660-G-A | c.1018G>A | p.D340N | Missense | 11/14 | - | 1 |
20-60861660-G-T | c.1018G>T | p.D340Y | Missense | 11/14 | - | 1 |
20-60861661-A-G | c.1019A>G | p.D340G | Missense | 11/14 | - | 1 |
20-60861663-A-T | c.1021A>T | p.S341C | Missense | 11/14 | - | 2 |
20-60861666-G-A | c.1024G>A | p.D342N | Missense | 11/14 | - | 3 |
20-60861668-C-T | c.1026C>T | p.D342= | Synonymous | 11/14 | - | 4 |
20-60861669-G-A | c.1027G>A | p.V343M | Missense | 11/14 | - | 1 |
20-60861676-A-G | c.1034A>G | p.D345G | Missense | 11/14 | - | 1 |
20-60861677-C-T | c.1035C>T | p.D345= | Synonymous | 11/14 | - | 3 |
20-60861678-G-A | c.1036G>A | p.D346N | Missense | 11/14 | - | 7 |
20-60861680-C-T | c.1038C>T | p.D346= | Synonymous | 11/14 | - | 1 |
20-60861681-G-A | c.1039G>A | p.V347M | Missense | 11/14 | - | 1 |
20-60861683-G-A | c.1041G>A | p.V347= | Synonymous | 11/14 | - | 1 |
20-60861685-C-T | c.1043C>T | p.P348L | Missense | 11/14 | - | 1 |
20-60861687-G-A | c.1045G>A | p.V349M | Missense | 11/14 | - | 1 |
20-60861694-A-T | c.1052A>T | p.Q351L | Missense | 11/14 | - | 1 |
20-60861701-C-T | c.1059C>T | p.T353= | Synonymous | 11/14 | - | 1 |
20-60861702-G-A | c.1060G>A | p.V354M | Missense | 11/14 | - | 4 |
20-60861703-T-C | c.1061T>C | p.V354A | Missense | 11/14 | - | 1 |
20-60861706-A-C | c.1064A>C | p.Q355P | Missense | 11/14 | - | 2 |
20-60861706-A-G | c.1064A>G | p.Q355R | Missense | 11/14 | - | 2 |
20-60861707-G-C | c.1065G>C | p.Q355H | Missense | 11/14 | - | 1 |
20-60861714-C-T | c.1072C>T | p.P358S | Missense | 11/14 | - | 4 |
20-60861718-G-C | c.1076G>C | p.G359A | Missense | 11/14 | - | 1 |
20-60861723-A-G | c.1081A>G | p.K361E | Missense | 11/14 | - | 2 |
20-60861724-A-G | c.1082A>G | p.K361R | Missense | 11/14 | - | 1 |
20-60861725-G-A | c.1083G>A | p.K361= | Synonymous | 11/14 | - | 1 |
20-60861728-G-A | c.1086G>A | p.L362= | Synonymous | 11/14 | - | 1 |
20-60861730-T-C | c.1088T>C | p.L363P | Missense | 11/14 | - | 1 |
20-60861734-G-C | c.1092G>C | p.W364C | Missense | 11/14 | - | 1 |
20-60861735-AGG-TGT | c.1093_1095delinsTGT | p.R365C | Missense | 11/14 | - | 2 |
20-60861744-A-G | c.1102A>G | p.T368A | Missense | 11/14 | - | 1 |
20-60861745-C-G | c.1103C>G | p.T368S | Missense | 11/14 | - | 1 |
20-60861746-C-A | c.1104C>A | p.T368= | Synonymous | 11/14 | - | 1 |
20-60861746-C-G | c.1104C>G | p.T368= | Synonymous | 11/14 | - | 1 |
20-60861746-C-T | c.1104C>T | p.T368= | Synonymous | 11/14 | - | 1 |
20-60861747-C-T | c.1105C>T | p.R369W | Missense | 11/14 | - | 2 |
20-60861748-G-A | c.1106G>A | p.R369Q | Missense | 11/14 | - | 3 |
20-60861750-C-T | c.1108C>T | p.P370S | Missense | 11/14 | - | 2 |
20-60861754-C-T | c.1112C>T | p.P371L | Missense | 11/14 | - | 1 |
20-60861755-C-A | c.1113C>A | p.P371= | Synonymous | 11/14 | - | 1 |
20-60861757-A-C | c.1115A>C | p.N372T | Missense | 11/14 | - | 1 |
20-60861757-A-G | c.1115A>G | p.N372S | Missense | 11/14 | - | 1 |
20-60861757-A-T | c.1115A>T | p.N372I | Missense | 11/14 | - | 1 |
20-60861760-C-G | c.1118C>G | p.S373C | Missense | 11/14 | - | 1 |
20-60861760-C-T | c.1118C>T | p.S373F | Missense | 11/14 | - | 1 |
20-60861763-C-G | c.1121C>G | p.A374G | Missense | 11/14 | - | 1 |
20-60861782-A-G | c.1125+15A>G | - | IntronicSNV | - | 11/13 | 9 |
20-60863000-G-A | c.1125+1233G>A | - | IntronicSNV | - | 11/13 | 1 |
20-60864238-C-T | c.1126-25C>T | - | IntronicSNV | - | 11/13 | 1 |
20-60864267-A-T | c.1130A>T | p.Y377F | Missense | 12/14 | - | 3 |
20-60864270-A-T | c.1133A>T | p.N378I | Missense | 12/14 | - | 2 |
20-60864275-A-G | c.1138A>G | p.T380A | Missense | 12/14 | - | 1 |
20-60864287-G-A | c.1150G>A | p.V384M | Missense | 12/14 | - | 1 |
20-60864288-T-C | c.1151T>C | p.V384A | Missense | 12/14 | - | 1 |
20-60864293-C-A | c.1156C>A | p.L386I | Missense | 12/14 | - | 1 |
20-60864293-C-T | c.1156C>T | p.L386F | Missense | 12/14 | - | 2 |
20-60864297-A-G | c.1160A>G | p.N387S | Missense | 12/14 | - | 1 |
20-60864298-C-T | c.1161C>T | p.N387= | Synonymous | 12/14 | - | 1 |
20-60864304-G-A | c.1167G>A | p.L389= | Synonymous | 12/14 | - | 1 |
20-60864307-G-A | c.1170G>A | p.E390= | Synonymous | 12/14 | - | 2 |
20-60864309-C-T | c.1172C>T | p.T391I | Missense | 12/14 | - | 1 |
20-60864312-G-A | c.1175G>A | p.G392D | Missense | 12/14 | - | 2 |
20-60864314-A-G | c.1177A>G | p.M393V | Missense | 12/14 | - | 1 |
20-60864315-T-C | c.1178T>C | p.M393T | Missense | 12/14 | - | 1 |
20-60864324-C-A | c.1187C>A | p.T396N | Missense | 12/14 | - | 1 |
20-60864325-C-T | c.1188C>T | p.T396= | Synonymous | 12/14 | - | 1 |
20-60864326-C-G | c.1189C>G | p.L397V | Missense | 12/14 | - | 1 |
20-60864328-G-T | c.1191G>T | p.L397= | Synonymous | 12/14 | - | 1 |
20-60864338-G-T | c.1201G>T | p.D401Y | Missense | 12/14 | - | 1 |
20-60864340-C-T | c.1203C>T | p.D401= | Synonymous | 12/14 | - | 3 |
20-60864344-C-T | c.1207C>T | p.R403C | Missense | 12/14 | - | 1 |
20-60864345-G-A | c.1208G>A | p.R403H | Missense | 12/14 | - | 2 |
20-60864347-C-T | c.1210C>T | p.L404= | Synonymous | 12/14 | - | 1 |
20-60864347-CTG-ATC | c.1210_1212delinsATC | p.L404I | Missense | 12/14 | - | 1 |
20-60864350-C-T | c.1213C>T | p.R405C | Missense | 12/14 | - | 3 |
20-60864353-C-T | c.1216C>T | p.P406S | Missense | 12/14 | - | 1 |
20-60864354-C-T | c.1217C>T | p.P406L | Missense | 12/14 | - | 1 |
20-60864355-T-C | c.1218T>C | p.P406= | Synonymous | 12/14 | - | 1 |
20-60864362-C-G | c.1225C>G | p.R409G | Missense | 12/14 | - | 3 |
20-60864362-C-T | c.1225C>T | p.R409C | Missense | 12/14 | - | 5 |
20-60864363-G-A | c.1226G>A | p.R409H | Missense | 12/14 | - | 1 |
20-60864365-G-A | c.1228G>A | p.G410S | Missense | 12/14 | - | 1 |
20-60864365-G-T | c.1228G>T | p.G410C | Missense | 12/14 | - | 1 |
20-60864373-G-T | c.1236G>T | p.E412D | Missense | 12/14 | - | 2 |
20-60864375-A-G | c.1238A>G | p.N413S | Missense | 12/14 | - | 1 |
20-60864381-A-G | c.1244A>G | p.N415S | Missense | 12/14 | - | 1 |
20-60864382-C-A | c.1245C>A | p.N415K | Missense | 12/14 | - | 1 |
20-60864385-G-A | c.1248G>A | p.M416I | Missense | 12/14 | - | 1 |
20-60864385-G-T | c.1248G>T | p.M416I | Missense | 12/14 | - | 1 |
20-60864390-C-T | c.1249+4C>T | - | IntronicSNV | - | 12/13 | 13 |
20-60865815-A-G | c.1250-944A>G | - | IntronicSNV | - | 12/13 | 2 |
20-60865815-A-T | c.1250-944A>T | - | IntronicSNV | - | 12/13 | 2 |
20-60866735-C-G | c.1250-24C>G | - | IntronicSNV | - | 12/13 | 1 |
20-60866735-C-T | c.1250-24C>T | - | IntronicSNV | - | 12/13 | 1 |
20-60866761-C-G | c.1252C>G | p.L418V | Missense | 13/14 | - | 2 |
20-60866767-A-G | c.1258A>G | p.S420G | Missense | 13/14 | - | 2 |
20-60866775-G-A | c.1266G>A | p.E422= | Synonymous | 13/14 | - | 1 |
20-60866776-AA-GC | c.1267_1268delinsGC | p.K423A | Missense | 13/14 | - | 1 |
20-60866779-G-A | c.1270G>A | p.E424K | Missense | 13/14 | - | 1 |
20-60866780-A-C | c.1271A>C | p.E424A | Missense | 13/14 | - | 2 |
20-60866782-C-G | c.1273C>G | p.R425G | Missense | 13/14 | - | 2 |
20-60866782-C-T | c.1273C>T | p.R425W | Missense | 13/14 | - | 1 |
20-60866783-G-A | c.1274G>A | p.R425Q | Missense | 13/14 | - | 3 |
20-60866788-G-T | c.1279G>T | p.E427* | Nonsense | 13/14 | - | 1 |
20-60866789-A-G | c.1280A>G | p.E427G | Missense | 13/14 | - | 3 |
20-60866790-G-C | c.1281G>C | p.E427D | Missense | 13/14 | - | 1 |
20-60866790-G-T | c.1281G>T | p.E427D | Missense | 13/14 | - | 1 |
20-60866792-A-G | c.1283A>G | p.E428G | Missense | 13/14 | - | 2 |
20-60866793-G-A | c.1284G>A | p.E428= | Synonymous | 13/14 | - | 2 |
20-60866799-G-T | c.1290G>T | p.Q430H | Missense | 13/14 | - | 2 |
20-60866803-G-A | c.1294G>A | p.E432K | Missense | 13/14 | - | 2 |
20-60866804-A-C | c.1295A>C | p.E432A | Missense | 13/14 | - | 2 |
20-60866807-C-A | c.1298C>A | p.A433E | Missense | 13/14 | - | 1 |
20-60866809-C-G | c.1300C>G | p.R434G | Missense | 13/14 | - | 2 |
20-60866809-C-T | c.1300C>T | p.R434W | Missense | 13/14 | - | 4 |
20-60866810-G-A | c.1301G>A | p.R434Q | Missense | 13/14 | - | 3 |
20-60866810-G-C | c.1301G>C | p.R434P | Missense | 13/14 | - | 1 |
20-60866810-G-T | c.1301G>T | p.R434L | Missense | 13/14 | - | 1 |
20-60866815-G-A | c.1306G>A | p.E436K | Missense | 13/14 | - | 1 |
20-60866815-G-C | c.1306G>C | p.E436Q | Missense | 13/14 | - | 2 |
20-60866815-G-T | c.1306G>T | p.E436* | Nonsense | 13/14 | - | 2 |
20-60866818-C-T | c.1309C>T | p.R437W | Missense | 13/14 | - | 5 |
20-60866819-G-A | c.1310G>A | p.R437Q | Missense | 13/14 | - | 2 |
20-60866825-A-G | c.1316A>G | p.K439R | Missense | 13/14 | - | 1 |
20-60866827-G-A | c.1318G>A | p.E440K | Missense | 13/14 | - | 1 |
20-60866831-A-C | c.1322A>C | p.E441A | Missense | 13/14 | - | 2 |
20-60866833-G-A | c.1324G>A | p.A442T | Missense | 13/14 | - | 2 |
20-60866834-C-T | c.1325C>T | p.A442V | Missense | 13/14 | - | 1 |
20-60866836-G-C | c.1327G>C | p.E443Q | Missense | 13/14 | - | 1 |
20-60866834-CAG-C | c.1328_1329del | p.E443Vfs*11 | Frameshift | 13/14 | - | 1 |
20-60866837-A-G | c.1328A>G | p.E443G | Missense | 13/14 | - | 2 |
20-60866841-G-A | c.1332G>A | p.W444* | Nonsense | 13/14 | - | 1 |
20-60866842-C-G | c.1333C>G | p.Q445E | Missense | 13/14 | - | 2 |
20-60866843-A-G | c.1334A>G | p.Q445R | Missense | 13/14 | - | 2 |
20-60866846-C-T | c.1337C>T | p.T446M | Missense | 13/14 | - | 1 |
20-60866847-G-A | c.1338G>A | p.T446= | Synonymous | 13/14 | - | 1 |
20-60866847-G-T | c.1338G>T | p.T446= | Synonymous | 13/14 | - | 1 |
20-60866850-G-T | c.1340+1G>T | - | IntronicSNV | - | 13/13 | 1 |
20-60866854-G-A | c.1340+5G>A | - | IntronicSNV | - | 13/13 | 1 |
20-60866882-A-G | c.1340+33A>G | - | IntronicSNV | - | 13/13 | 1 |
20-60866981-GT-G | c.1340+132del | - | IntronicDeletion | - | 13/13 | 1 |
20-60866981-T-G | c.1340+132T>G | - | IntronicSNV | - | 13/13 | 1 |
20-60866982-G-C | c.1340+133G>C | - | IntronicSNV | - | 13/13 | 1 |
20-60866985-CTT-C | c.1340+136_1340+137del | - | IntronicDeletion | - | 13/13 | 1 |
20-60866988-CTCT-C | c.1340+139_1340+141del | - | IntronicDeletion | - | 13/13 | 1 |
20-60866992-ACCCC-A | c.1340+145_1340+148del | - | IntronicDeletion | - | 13/13 | 1 |
20-60867002-C-A | c.1340+153C>A | - | IntronicSNV | - | 13/13 | 1 |
20-60867007-T-G | c.1340+158T>G | - | IntronicSNV | - | 13/13 | 1 |
20-60868744-G-A | c.1341-97G>A | - | IntronicSNV | - | 13/13 | 1 |
20-60868744-G-C | c.1341-97G>C | - | IntronicSNV | - | 13/13 | 1 |
20-60868843-G-T | c.1343G>T | p.W448L | Missense | 14/14 | - | 1 |
20-60868847-C-G | c.1347C>G | p.F449L | Missense | 14/14 | - | 1 |
20-60868849-A-T | c.1349A>T | p.Y450F | Missense | 14/14 | - | 1 |
20-60868850-C-T | c.1350C>T | p.Y450= | Synonymous | 14/14 | - | 1 |
20-60868852-C-A | c.1352C>A | p.P451Q | Missense | 14/14 | - | 1 |
20-60868852-C-G | c.1352C>G | p.P451R | Missense | 14/14 | - | 2 |
20-60868853-A-G | c.1353A>G | p.P451= | Synonymous | 14/14 | - | 1 |
20-60868858-A-G | c.1358A>G | p.N453S | Missense | 14/14 | - | 1 |
20-60868858-A-T | c.1358A>T | p.N453I | Missense | 14/14 | - | 1 |
20-60868864-C-G | c.1364C>G | p.P455R | Missense | 14/14 | - | 1 |
20-60868866-T-C | c.1366T>C | p.Y456H | Missense | 14/14 | - | 1 |
20-60868876-C-A | c.1376C>A | p.T459N | Missense | 14/14 | - | 1 |
20-60868876-C-T | c.1376C>T | p.T459I | Missense | 14/14 | - | 1 |
20-60868878-C-T | c.1378C>T | p.P460S | Missense | 14/14 | - | 1 |
20-60868879-C-T | c.1379C>T | p.P460L | Missense | 14/14 | - | 2 |
20-60868875-AC-A | c.1380del | p.D461Tfs*44 | Frameshift | 14/14 | - | 3 |
20-60868880-C-A | c.1380C>A | p.P460= | Synonymous | 14/14 | - | 3 |
20-60868880-C-G | c.1380C>G | p.P460= | Synonymous | 14/14 | - | 1 |
20-60868880-C-T | c.1380C>T | p.P460= | Synonymous | 14/14 | - | 1 |
20-60868881-CG-C | c.1381del | p.D461Tfs*44 | Frameshift | 14/14 | - | 3 |
20-60868881-G-A | c.1381G>A | p.D461N | Missense | 14/14 | - | 1 |
20-60868881-G-T | c.1381G>T | p.D461Y | Missense | 14/14 | - | 1 |
20-60868883-C-G | c.1383C>G | p.D461E | Missense | 14/14 | - | 2 |
20-60868891-A-C | c.1391A>C | p.Y464S | Missense | 14/14 | - | 1 |
20-60868895-A-G | c.1395A>G | p.A465= | Synonymous | 14/14 | - | 2 |
20-60868908-G-A | c.1408G>A | p.E470K | Missense | 14/14 | - | 2 |
20-60868908-G-C | c.1408G>C | p.E470Q | Missense | 14/14 | - | 1 |
20-60868911-C-T | c.1411C>T | p.R471W | Missense | 14/14 | - | 4 |
20-60868912-G-A | c.1412G>A | p.R471Q | Missense | 14/14 | - | 4 |
20-60868921-C-T | c.1421C>T | p.S474F | Missense | 14/14 | - | 1 |
20-60868922-C-A | c.1422C>A | p.S474= | Synonymous | 14/14 | - | 1 |
20-60868922-C-T | c.1422C>T | p.S474= | Synonymous | 14/14 | - | 1 |
20-60868923-G-A | c.1423G>A | p.D475N | Missense | 14/14 | - | 1 |
20-60868930-C-A | c.1430C>A | p.P477Q | Missense | 14/14 | - | 2 |
20-60868933-A-G | c.1433A>G | p.D478G | Missense | 14/14 | - | 2 |
20-60868935-A-G | c.1435A>G | p.I479V | Missense | 14/14 | - | 1 |
20-60868936-T-C | c.1436T>C | p.I479T | Missense | 14/14 | - | 1 |
20-60868937-C-T | c.1437C>T | p.I479= | Synonymous | 14/14 | - | 1 |
20-60868966-C-G | c.*23C>G | - | 3-UTRSNV | 14/14 | - | 1 |
20-60868966-C-T | c.*23C>T | - | 3-UTRSNV | 14/14 | - | 1 |
20-60868972-C-T | c.*29C>T | - | 3-UTRSNV | 14/14 | - | 1 |
20-60868982-C-A | c.*39C>A | - | 3-UTRSNV | 14/14 | - | 3 |
20-60868982-C-G | c.*39C>G | - | 3-UTRSNV | 14/14 | - | 3 |
20-60868982-C-T | c.*39C>T | - | 3-UTRSNV | 14/14 | - | 3 |
20-60868988-T-C | c.*45T>C | - | 3-UTRSNV | 14/14 | - | 1 |
20-60868999-G-A | c.*56G>A | - | 3-UTRSNV | 14/14 | - | 1 |
20-60869000-A-G | c.*57A>G | - | 3-UTRSNV | 14/14 | - | 1 |
20-60869058-G-A | c.*115G>A | - | 3-UTRSNV | 14/14 | - | 1 |
20-60869339-G-A | c.*396G>A | - | 3-UTRSNV | 14/14 | - | 1 |
20-60870166-A-G | c.*1223A>G | - | 3-UTRSNV | 14/14 | - | 3 |
20-60870166-A-T | c.*1223A>T | - | 3-UTRSNV | 14/14 | - | 3 |
20-60870418-C-T | c.*1475C>T | - | 3-UTRSNV | 14/14 | - | 1 |