DMD dystrophin

Annotation transcript: NM_004006.3

1748 unique variant annotations were identified in 739 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
X-31139693-A-C c.*343T>G - 3-UTRSNV 79/79 - 1
X-31144640-T-C c.11046+119A>G - IntronicSNV - 78/78 1
X-31144764-T-A c.11041A>T p.R3681* Nonsense 78/79 - 2
X-31144788-T-A c.11017A>T p.R3673* Nonsense 78/79 - 1
X-31152218-C-A c.11014+1G>T - IntronicSNV - 77/78 1
X-31152288-G-A c.10945C>T p.P3649S Missense 77/79 - 1
X-31152311-C-A c.10922G>T p.G3641V Missense 77/79 - 1
X-31164416-T-G c.10913A>C p.D3638A Missense 76/79 - 3
X-31164419-G-T c.10910C>A p.S3637* Nonsense 76/79 - 1
X-31164440-TC-T c.10889del p.R3630Qfs*27 Frameshift 76/79 - 1
X-31164441-G-A c.10888C>T p.R3630* Nonsense 76/79 - 2
X-31164440-CG-C c.10888del p.R3630Efs*27 Frameshift 76/79 - 1
X-31164456-G-A c.10873C>T p.Q3625* Nonsense 76/79 - 1
X-31164527-T-A c.10802A>T p.Q3601L Missense 76/79 - 1
X-31164528-G-A c.10801C>T p.Q3601* Nonsense 76/79 - 1
X-31165350-G-C c.10797+42C>G - IntronicSNV - 75/78 2
X-31165387-C-T c.10797+5G>A - IntronicSNV - 75/78 1
X-31165397-C-A c.10792G>T p.E3598* Nonsense 75/79 - 1
X-31165398-C-A c.10791G>T p.L3597= Synonymous 75/79 - 1
X-31165398-C-G c.10791G>C p.L3597= Synonymous 75/79 - 1
X-31165398-C-T c.10791G>A p.L3597= Synonymous 75/79 - 1
X-31165400-G-A c.10789C>T p.L3597= Synonymous 75/79 - 1
X-31165404-C-G c.10785G>C p.Q3595H Missense 75/79 - 1
X-31165406-G-A c.10783C>T p.Q3595* Nonsense 75/79 - 1
X-31165430-C-A c.10759G>T p.E3587* Nonsense 75/79 - 2
X-31165435-T-G c.10754A>C p.Q3585P Missense 75/79 - 2
X-31165436-G-A c.10753C>T p.Q3585* Nonsense 75/79 - 1
X-31165438-T-C c.10751A>G p.K3584R Missense 75/79 - 1
X-31165466-TG-T c.10722del p.R3575Gfs*19 Frameshift 75/79 - 1
X-31165538-G-A c.10651C>T p.Q3551* Nonsense 75/79 - 2
X-31165563-AGG-A c.10624_10625del p.P3542Sfs*2 Frameshift 75/79 - 1
X-31165569-C-T c.10620G>A p.P3540= Synonymous 75/79 - 1
X-31165577-G-GTC c.10611_10612insGA p.P3538Dfs*9 Frameshift 75/79 - 1
X-31165579-G-T c.10610C>A p.S3537Y Missense 75/79 - 1
X-31165580-A-T c.10609T>A p.S3537T Missense 75/79 - 1
X-31165580-GA-G c.10609del p.S3537Pfs*9 Frameshift 75/79 - 1
X-31165589-T-TTC c.10599_10600insGA p.K3534Efs*13 Frameshift 75/79 - 1
X-31165601-G-GTC c.10587_10588insGA p.Q3530Dfs*17 Frameshift 75/79 - 1
X-31165605-C-A c.10584G>T p.K3528N Missense 75/79 - 1
X-31165612-C-T c.10577G>A p.R3526H Missense 75/79 - 1
X-31165622-C-A c.10567G>T p.E3523* Nonsense 75/79 - 1
X-31187567-C-A c.10546G>T p.E3516* Nonsense 74/79 - 1
X-31187570-C-A c.10543G>T p.E3515* Nonsense 74/79 - 1
X-31187602-CCT-C c.10509_10510del p.E3505Afs*9 Frameshift 74/79 - 1
X-31187610-C-G c.10503G>C p.E3501D Missense 74/79 - 1
X-31187611-TCA-T c.10500_10501del p.S3500Rfs*14 Frameshift 74/79 - 1
X-31187613-ACT-A c.10498_10499del p.S3500* Frameshift 74/79 - 3
X-31187648-G-A c.10465C>T p.R3489C Missense 74/79 - 1
X-31187659-CA-C c.10454del p.L3485Rfs*11 Frameshift 74/79 - 2
X-31187659-CAG-C c.10453_10454del p.L3485Efs*5 Frameshift 74/79 - 2
X-31187659-A-AG c.10453dup p.L3485Pfs*6 Frameshift 74/79 - 4
X-31187659-AG-A c.10453del p.L3485* Frameshift 74/79 - 1
X-31187684-G-A c.10429C>T p.Q3477* Nonsense 74/79 - 1
X-31187685-G-A c.10428C>T p.C3476= Synonymous 74/79 - 1
X-31187701-A-C c.10412T>G p.L3471* Nonsense 74/79 - 1
X-31187701-A-T c.10412T>A p.L3471* Nonsense 74/79 - 1
X-31187703-CA-C c.10409del p.L3470Cfs*2 Frameshift 74/79 - 1
X-31187703-C-CA c.10409dup p.L3470Ffs*21 Frameshift 74/79 - 1
X-31187706-A-AT c.10406dup p.H3469Qfs*22 Frameshift 74/79 - 1
X-31187711-C-A c.10402G>T p.E3468* Nonsense 74/79 - 2
X-31187716-TC-CG c.10396_10397delinsCG p.D3466R Missense 74/79 - 1
X-31190473-A-C c.10386T>G p.N3462K Missense 73/79 - 1
X-31190473-A-T c.10386T>A p.N3462K Missense 73/79 - 1
X-31190473-CA-C c.10386del p.N3462Kfs*4 Frameshift 73/79 - 1
X-31190491-CA-C c.10368del p.N3456Kfs*10 Frameshift 73/79 - 1
X-31190494-T-TA c.10364dup p.N3456Kfs*2 Frameshift 73/79 - 1
X-31190497-A-T c.10362T>A p.Y3454* Nonsense 73/79 - 1
X-31190526-C-T c.10333G>A p.A3445T Missense 73/79 - 1
X-31191589-C-T c.10328+67G>A - IntronicSNV - 72/78 1
X-31191678-G-A c.10306C>T p.R3436C Missense 72/79 - 1
X-31191680-G-T c.10304C>A p.S3435* Nonsense 72/79 - 1
X-31191705-G-A c.10279C>T p.Q3427* Nonsense 72/79 - 1
X-31191711-GA-G c.10273del p.S3425Pfs*20 Frameshift 72/79 - 1
X-31191718-A-AG c.10265dup p.A3423Cfs*10 SpliceAcceptorInsertion 72/79 - 1
X-31196048-C-T c.10262+1G>A - IntronicSNV - 71/78 1
X-31196049-G-A c.10262C>T p.A3421V Missense 71/79 - 2
X-31196068-A-ATC c.10242_10243insGA p.F3415Dfs*5 Frameshift 71/79 - 1
X-31196076-CA-C c.10235del p.L3412Rfs*7 Frameshift 71/79 - 2
X-31196075-CAGAGT-C c.10231_10235del p.T3411Dfs*20 Frameshift 71/79 - 2
X-31196083-C-T c.10228G>A p.V3410I Missense 71/79 - 2
X-31196781-C-A c.10223+5G>T - IntronicSNV - 70/78 1
X-31196785-C-T c.10223+1G>A - IntronicSNV - 70/78 4
X-31196790-C-A c.10219G>T p.E3407* Nonsense 70/79 - 2
X-31196817-G-A c.10192C>T p.Q3398* Nonsense 70/79 - 1
X-31196838-G-A c.10171C>T p.R3391* Nonsense 70/79 - 14
X-31196862-T-A c.10147A>T p.K3383* Nonsense 70/79 - 1
X-31196868-G-A c.10141C>T p.R3381* Nonsense 70/79 - 14
X-31196874-T-A c.10135A>T p.K3379* Nonsense 70/79 - 1
X-31196880-T-A c.10129A>T p.K3377* Nonsense 70/79 - 1
X-31196875-G-GT c.10133dup p.N3378Kfs*55 Frameshift 70/79 - 1
X-31196882-A-G c.10127T>C p.L3376P Missense 70/79 - 1
X-31196883-AG-A c.10126del p.L3376* Frameshift 70/79 - 1
X-31196901-G-A c.10108C>T p.R3370* Nonsense 70/79 - 12
X-31196904-C-A c.10105G>T p.V3369F Missense 70/79 - 1
X-31196907-C-A c.10102G>T p.D3368Y Missense 70/79 - 1
X-31196905-ATCT-A c.10101_10103del p.E3367del InFrameDeletion 70/79 - 6
X-31196942-G-A c.10087-20C>T - IntronicSNV - 69/78 1
X-31198482-C-G c.10086+5G>C - IntronicSNV - 69/78 1
X-31198485-A-G c.10086+2T>C - IntronicSNV - 69/78 1
X-31198486-C-T c.10086+1G>A - IntronicSNV - 69/78 2
X-31198487-CCGG-C c.10084_10086del p.P3362del InFrameDeletion 69/79 - 1
X-31198528-C-T c.10045G>A p.G3349S Missense 69/79 - 1
X-31198540-G-A c.10033C>T p.R3345* Nonsense 69/79 - 5
X-31198554-C-T c.10019G>A p.C3340Y Missense 69/79 - 8
X-31198554-C-G c.10019G>C p.C3340S Missense 69/79 - 1
X-31198555-A-T c.10018T>A p.C3340S Missense 69/79 - 1
X-31198559-T-C c.10014A>G p.Q3338= Synonymous 69/79 - 1
X-31198562-G-C c.10011C>G p.C3337W Missense 69/79 - 1
X-31198563-C-T c.10010G>A p.C3337Y Missense 69/79 - 2
X-31198570-C-G c.10003G>C p.D3335H Missense 69/79 - 3
X-31198595-G-C c.9978C>G p.Y3326* Nonsense 69/79 - 1
X-31200680-A-T c.9974+175T>A - IntronicSNV - 68/78 1
X-31200832-A-AT c.9974+22dup - IntronicInsertion - 68/78 1
X-31200832-AT-A c.9974+22del - IntronicDeletion - 68/78 1
X-31200871-G-A c.9958C>T p.P3320S Missense 68/79 - 2
X-31200873-C-T c.9956G>A p.C3319Y Missense 68/79 - 1
X-31200876-T-A c.9953A>T p.E3318V Missense 68/79 - 1
X-31200874-ACT-A c.9953_9954del p.E3318Vfs*15 Frameshift 68/79 - 1
X-31200882-C-T c.9947G>A p.C3316Y Missense 68/79 - 1
X-31200891-C-A c.9938G>T p.C3313F Missense 68/79 - 3
X-31200891-C-T c.9938G>A p.C3313Y Missense 68/79 - 2
X-31200894-T-G c.9935A>C p.K3312T Missense 68/79 - 1
X-31200895-T-G c.9934A>C p.K3312Q Missense 68/79 - 1
X-31200901-G-A c.9928C>T p.Q3310* Nonsense 68/79 - 2
X-31200902-A-C c.9927T>G p.H3309Q Missense 68/79 - 1
X-31200902-A-T c.9927T>A p.H3309Q Missense 68/79 - 1
X-31200944-GC-G c.9885del p.V3297Sfs*33 Frameshift 68/79 - 1
X-31200966-TC-T c.9862del p.E3288Nfs*42 Frameshift 68/79 - 1
X-31200978-C-T c.9851G>A p.W3284* Nonsense 68/79 - 4
X-31201000-C-A c.9829G>T p.E3277* Nonsense 68/79 - 1
X-31201009-G-T c.9820C>A p.P3274T Missense 68/79 - 1
X-31201012-T-TA c.9816dup p.K3273* Nonsense 68/79 - 1
X-31201021-C-G c.9808G>C p.A3270P Missense 68/79 - 2
X-31219364-G-A c.9807+2714C>T - IntronicSNV - 67/78 2
X-31222073-C-T c.9807+5G>A - IntronicSNV - 67/78 1
X-31222073-CTTACAAAT-C c.9804_9807+4del - SpliceDonorDeletion 67/79 67/78 1
X-31222083-G-A c.9802C>T p.Q3268* Nonsense 67/79 - 1
X-31222121-C-A c.9764G>T p.G3255V Missense 67/79 - 1
X-31222137-C-A c.9748G>T p.E3250* Nonsense 67/79 - 1
X-31222161-TAG-T c.9722_9723del p.S3241Yfs*9 Frameshift 67/79 - 2
X-31222170-G-A c.9715C>T p.H3239Y Missense 67/79 - 1
X-31222171-CAGA-C c.9711_9713del p.L3238del InFrameDeletion 67/79 - 2
X-31222181-C-T c.9704G>A p.G3235D Missense 67/79 - 1
X-31222196-GT-G c.9689del p.D3230Afs*53 Frameshift 67/79 - 1
X-31222201-A-C c.9684T>G p.F3228L Missense 67/79 - 2
X-31222201-A-T c.9684T>A p.F3228L Missense 67/79 - 2
X-31222203-A-G c.9682T>C p.F3228L Missense 67/79 - 3
X-31222234-G-T c.9651C>A p.Y3217* Nonsense 67/79 - 1
X-31224684-A-G c.9649+15T>C - IntronicSNV - 66/78 3
X-31224694-C-A c.9649+5G>T - IntronicSNV - 66/78 1
X-31224694-C-G c.9649+5G>C - IntronicSNV - 66/78 1
X-31224694-C-T c.9649+5G>A - IntronicSNV - 66/78 1
X-31224695-T-A c.9649+4A>T - IntronicSNV - 66/78 1
X-31224697-A-G c.9649+2T>C - IntronicSNV - 66/78 1
X-31224698-C-T c.9649+1G>A - IntronicSNV - 66/78 2
X-31224703-G-T c.9645C>A p.Y3215* Nonsense 66/79 - 1
X-31224727-TA-T c.9621del p.C3207* Frameshift 66/79 - 1
X-31224764-C-CAT c.9583_9584insAT p.R3195Hfs*89 Frameshift 66/79 - 1
X-31224764-C-T c.9584G>A p.R3195H Missense 66/79 - 1
X-31224768-T-G c.9580A>C p.I3194L Missense 66/79 - 1
X-31224780-G-A c.9568C>T p.R3190* Nonsense 66/79 - 12
X-31224782-C-T c.9566G>A p.G3189E Missense 66/79 - 1
X-31224784-C-A c.9564G>T p.T3188= Synonymous 66/79 - 1
X-31224784-C-G c.9564G>C p.T3188= Synonymous 66/79 - 1
X-31224784-C-T c.9564G>A p.T3188= Synonymous 66/79 - 1
X-31224881-G-A c.9564-97C>T - IntronicSNV - 65/78 2
X-31224994-A-G c.9564-210T>C - IntronicSNV - 65/78 1
X-31224994-A-T c.9564-210T>A - IntronicSNV - 65/78 1
X-31226400-T-C c.9563+1215A>G - IntronicSNV - 65/78 2
X-31227497-G-T c.9563+118C>A - IntronicSNV - 65/78 1
X-31227610-C-G c.9563+5G>C - IntronicSNV - 65/78 1
X-31227614-C-T c.9563+1G>A - IntronicSNV - 65/78 6
X-31227618-T-C c.9560A>G p.D3187G Missense 65/79 - 2
X-31227636-C-T c.9542G>A p.W3181* Nonsense 65/79 - 1
X-31227685-G-T c.9493C>A p.H3165N Missense 65/79 - 1
X-31227697-G-C c.9481C>G p.L3161V Missense 65/79 - 1
X-31227704-A-C c.9474T>G p.Y3158* Nonsense 65/79 - 1
X-31227717-A-T c.9461T>A p.L3154* Nonsense 65/79 - 1
X-31227715-TCAAA-T c.9459_9462del p.C3153* Frameshift 65/79 - 2
X-31227716-CA-C c.9461del p.L3154* Frameshift 65/79 - 1
X-31227719-A-T c.9459T>A p.C3153* Nonsense 65/79 - 1
X-31227749-C-A c.9429G>T p.Q3143H Missense 65/79 - 1
X-31227749-C-G c.9429G>C p.Q3143H Missense 65/79 - 1
X-31227755-ATT-A c.9421_9422del p.N3141* Frameshift 65/79 - 1
X-31227763-T-TA c.9414_9415insT p.K3139* Nonsense 65/79 - 1
X-31227798-G-C c.9380C>G p.S3127* Nonsense 65/79 - 3
X-31227798-G-T c.9380C>A p.S3127* Nonsense 65/79 - 1
X-31241163-C-T c.9361+1G>A - IntronicSNV - 64/78 2
X-31241166-CA-C c.9358del p.C3120Afs*5 Frameshift 64/79 - 1
X-31241176-T-TC c.9348dup p.K3117Efs*15 Frameshift 64/79 - 1
X-31241177-C-T c.9348G>A p.Q3116= Synonymous 64/79 - 1
X-31241179-G-A c.9346C>T p.Q3116* Nonsense 64/79 - 1
X-31241188-G-A c.9337C>T p.R3113* Nonsense 64/79 - 9
X-31241206-T-A c.9319A>T p.R3107W Missense 64/79 - 1
X-31241226-T-C c.9299A>G p.N3100S Missense 64/79 - 1
X-31270444-G-A c.9286+8628C>T - IntronicSNV - 63/78 1
X-31277151-C-T c.9286+1921G>A - IntronicSNV - 63/78 1
X-31279081-G-A c.9277C>T p.Q3093* Nonsense 63/79 - 1
X-31279109-C-T c.9249G>A p.W3083* Nonsense 63/79 - 1
X-31286408-A-G c.9225-7275T>C - IntronicSNV - 62/78 1
X-31291462-G-A c.9225-12329C>T - IntronicSNV - 62/78 1
X-31295606-A-T c.9225-16473T>A - IntronicSNV - 62/78 1
X-31332523-G-T c.9224+9192C>A - IntronicSNV - 62/78 1
X-31341714-C-T c.9224+1G>A - IntronicSNV - 62/78 1
X-31341735-G-C c.9204C>G p.N3068K Missense 62/79 - 2
X-31341735-G-T c.9204C>A p.N3068K Missense 62/79 - 2
X-31341731-CTTTG-C c.9204_9207del p.N3068Kfs*20 Frameshift 62/79 - 8
X-31341772-GA-TC c.9166_9167inv p.S3056D Missense 62/79 - 1
X-31341775-G-C c.9164C>G p.T3055R Missense 62/79 - 1
X-31341920-T-C c.9164-145A>G - IntronicSNV - 61/78 1
X-31342127-A-G c.9164-352T>C - IntronicSNV - 61/78 1
X-31348807-G-A c.9164-7032C>T - IntronicSNV - 61/78 1
X-31348807-G-T c.9164-7032C>A - IntronicSNV - 61/78 1
X-31366671-A-C c.9163+2T>G - IntronicSNV - 61/78 1
X-31366672-C-T c.9163+1G>A - IntronicSNV - 61/78 1
X-31366679-G-GA c.9156dup p.L3053Sfs*45 Frameshift 61/79 - 1
X-31366688-G-A c.9148C>T p.Q3050* Nonsense 61/79 - 2
X-31366696-G-GT c.9139_9140insA p.P3047Hfs*51 Frameshift 61/79 - 1
X-31366702-A-G c.9134T>C p.F3045S Missense 61/79 - 1
X-31366713-G-A c.9123C>T p.A3041= Synonymous 61/79 - 1
X-31366718-C-T c.9118G>A p.E3040K Missense 61/79 - 1
X-31366736-G-A c.9100C>T p.R3034* Nonsense 61/79 - 9
X-31452809-T-C c.9084+9789A>G - IntronicSNV - 60/78 1
X-31460395-G-T c.9084+2203C>A - IntronicSNV - 60/78 1
X-31460721-C-A c.9084+1877G>T - IntronicSNV - 60/78 1
X-31460986-G-C c.9084+1612C>G - IntronicSNV - 60/78 1
X-31462610-C-T c.9072G>A p.W3024* Nonsense 60/79 - 1
X-31462638-C-T c.9044G>A p.S3015N Missense 60/79 - 1
X-31462683-C-T c.8999G>A p.R3000H Missense 60/79 - 1
X-31462726-C-CA c.8955dup p.A2986Cfs*12 Frameshift 60/79 - 1
X-31462738-G-A c.8944C>T p.R2982* Nonsense 60/79 - 8
X-31496227-ACTTT-A c.8929_8932del p.K2977Sfs*11 Frameshift 59/79 - 1
X-31496246-G-A c.8914C>T p.Q2972* Nonsense 59/79 - 1
X-31496246-GGAGA-G c.8910_8913del p.L2971Kfs*17 Frameshift 59/79 - 1
X-31496280-C-T c.8880G>A p.W2960* Nonsense 59/79 - 2
X-31496282-AG-A c.8877del p.W2960Gfs*29 Frameshift 59/79 - 1
X-31496288-C-A c.8872G>T p.G2958* Nonsense 59/79 - 1
X-31496286-TC-T c.8873del p.G2958Dfs*31 Frameshift 59/79 - 1
X-31496289-C-CT c.8870dup p.S2959Ifs*11 Frameshift 59/79 - 1
X-31496306-G-A c.8854C>T p.Q2952* Nonsense 59/79 - 1
X-31496350-C-T c.8810G>A p.R2937Q Missense 59/79 - 7
X-31496360-C-A c.8800G>T p.E2934* Nonsense 59/79 - 2
X-31496384-G-A c.8776C>T p.Q2926* Nonsense 59/79 - 1
X-31496385-C-T c.8775G>A p.W2925* Nonsense 59/79 - 1
X-31496386-C-T c.8774G>A p.W2925* Nonsense 59/79 - 2
X-31496398-T-C c.8762A>G p.H2921R Missense 59/79 - 6
X-31496402-G-A c.8758C>T p.L2920= Synonymous 59/79 - 1
X-31496415-C-T c.8745G>A p.W2915* Nonsense 59/79 - 1
X-31496416-C-T c.8744G>A p.W2915* Nonsense 59/79 - 1
X-31496420-C-A c.8740G>T p.E2914* Nonsense 59/79 - 2
X-31496424-ATT-TTG c.8734_8736delinsCAA p.N2912Q Missense 59/79 - 1
X-31496426-T-C c.8734A>G p.N2912D Missense 59/79 - 8
X-31496431-T-A c.8729A>T p.E2910V Missense 59/79 - 11
X-31496431-T-C c.8729A>G p.E2910G Missense 59/79 - 1
X-31496434-T-A c.8726A>T p.E2909V Missense 59/79 - 1
X-31496447-G-A c.8713C>T p.R2905* Nonsense 59/79 - 16
X-31496450-G-A c.8710C>T p.L2904= Synonymous 59/79 - 1
X-31496468-G-A c.8692C>T p.Q2898* Nonsense 59/79 - 1
X-31496480-C-A c.8680G>T p.E2894* Nonsense 59/79 - 1
X-31496566-G-C c.8669-75C>G - IntronicSNV - 58/78 1
X-31497097-T-A c.8668+3A>T - IntronicSNV - 58/78 2
X-31497099-C-T c.8668+1G>A - IntronicSNV - 58/78 1
X-31497100-C-T c.8668G>A p.E2890K Missense 58/79 - 2
X-31497112-G-A c.8656C>T p.Q2886* Nonsense 58/79 - 1
X-31497157-T-A c.8611A>T p.I2871L Missense 58/79 - 1
X-31497160-G-A c.8608C>T p.R2870* Nonsense 58/79 - 9
X-31497160-G-GT c.8607dup p.R2870Tfs*25 Frameshift 58/79 - 1
X-31497171-A-C c.8597T>G p.L2866R Missense 58/79 - 1
X-31497197-A-G c.8571T>C p.T2857= Synonymous 58/79 - 1
X-31497206-T-A c.8562A>T p.E2854D Missense 58/79 - 1
X-31497206-T-G c.8562A>C p.E2854D Missense 58/79 - 1
X-31497213-T-C c.8555A>G p.K2852R Missense 58/79 - 1
X-31497369-T-A c.8548-149A>T - IntronicSNV - 57/78 1
X-31497369-T-C c.8548-149A>G - IntronicSNV - 57/78 1
X-31514945-C-A c.8507G>T p.G2836V Missense 57/79 - 1
X-31514988-G-A c.8464C>T p.Q2822* Nonsense 57/79 - 1
X-31515004-T-G c.8448A>C p.E2816D Missense 57/79 - 1
X-31515009-G-A c.8443C>T p.Q2815* Nonsense 57/79 - 1
X-31515026-C-T c.8426G>A p.R2809H Missense 57/79 - 1
X-31515030-T-A c.8422A>T p.K2808* Nonsense 57/79 - 1
X-31515032-C-T c.8420G>A p.W2807* Nonsense 57/79 - 1
X-31515035-T-C c.8417A>G p.Q2806R Missense 57/79 - 1
X-31515058-GGA-CTT c.8392_8394delinsAAG p.S2798K Missense 57/79 - 1
X-31518931-C-A c.8391-3870G>T - IntronicSNV - 56/78 1
X-31525224-A-G c.8390+174T>C - IntronicSNV - 56/78 1
X-31525397-C-T c.8390+1G>A - IntronicSNV - 56/78 1
X-31525412-CTT-C c.8374_8375del p.K2792Vfs*5 Frameshift 56/79 - 1
X-31525417-T-A c.8371A>T p.K2791* Nonsense 56/79 - 1
X-31525417-TCCGAAGTTCA-T c.8361_8370del p.S2787Rfs*34 Frameshift 56/79 - 1
X-31525418-C-A c.8370G>T p.R2790= Synonymous 56/79 - 1
X-31525418-C-G c.8370G>C p.R2790= Synonymous 56/79 - 1
X-31525418-C-T c.8370G>A p.R2790= Synonymous 56/79 - 1
X-31525420-G-T c.8368C>A p.R2790= Synonymous 56/79 - 1
X-31525430-C-A c.8358G>T p.W2786C Missense 56/79 - 1
X-31525430-C-G c.8358G>C p.W2786C Missense 56/79 - 1
X-31525430-C-T c.8358G>A p.W2786* Nonsense 56/79 - 1
X-31525431-C-T c.8357G>A p.W2786* Nonsense 56/79 - 1
X-31525435-T-A c.8353A>T p.K2785* Nonsense 56/79 - 1
X-31525455-C-T c.8333G>A p.R2778H Missense 56/79 - 1
X-31525503-A-T c.8285T>A p.I2762N Missense 56/79 - 1
X-31525529-TG-T c.8259del p.H2753Qfs*11 Frameshift 56/79 - 1
X-31525539-AT-A c.8249del p.D2750Vfs*14 Frameshift 56/79 - 1
X-31525559-ACCTTGGAGGT-A c.8219_8228del p.D2740Vfs*21 SpliceAcceptorDeletion 56/79 55/78 1
X-31525564-G-A c.8224C>T p.Q2742* Nonsense 56/79 - 1
X-31525572-T-C c.8218-2A>G - IntronicSNV - 55/78 1
X-31540240-T-C c.8218-14670A>G - IntronicSNV - 55/78 1
X-31577462-C-A c.8218-51892G>T - IntronicSNV - 55/78 1
X-31589214-A-G c.8217+56576T>C - IntronicSNV - 55/78 1
X-31589214-A-T c.8217+56576T>A - IntronicSNV - 55/78 1
X-31602164-ATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCT-A c.8217+43568_8217+43626del - Unclassified - 55/78 1
X-31613687-C-A c.8217+32103G>T - IntronicSNV - 55/78 2
X-31627738-T-C c.8217+18052A>G - IntronicSNV - 55/78 2
X-31645785-C-T c.8217+5G>A - IntronicSNV - 55/78 1
X-31645791-T-TA c.8215_8216insT p.Q2739Lfs*6 SpliceDonorInsertion 55/79 - 1
X-31645798-G-A c.8209C>T p.Q2737* Nonsense 55/79 - 1
X-31645810-C-A c.8197G>T p.E2733* Nonsense 55/79 - 1
X-31645827-T-G c.8180A>C p.D2727A Missense 55/79 - 1
X-31645831-C-A c.8176G>T p.E2726* Nonsense 55/79 - 1
X-31645844-C-A c.8163G>T p.K2721N Missense 55/79 - 1
X-31645869-T-C c.8138A>G p.N2713S Missense 55/79 - 1
X-31645896-C-T c.8111G>A p.W2704* Nonsense 55/79 - 1
X-31645900-C-CA c.8106dup p.A2703Cfs*7 Frameshift 55/79 - 1
X-31645909-T-A c.8098A>T p.K2700* Nonsense 55/79 - 1
X-31645920-A-AG c.8086dup p.L2696Pfs*14 Frameshift 55/79 - 1
X-31645926-A-G c.8081T>C p.F2694S Missense 55/79 - 1
X-31645969-G-A c.8038C>T p.R2680* Nonsense 55/79 - 7
X-31645969-GCTCA-G c.8034_8037del p.E2681Lfs*44 Frameshift 55/79 - 1
X-31656291-T-G c.8028-10312A>C - IntronicSNV - 54/78 1
X-31664815-T-C c.8027+11292A>G - IntronicSNV - 54/78 1
X-31668691-GAACTCTAAAATTATATTGCCAAGGGACGGTATTTGTAGATACAGCATATAAGACTCTTA-G c.8027+7358_8027+7416del - Unclassified - 54/78 1
X-31669203-CAGTAGATTGGGAAAGAGAGATCAAGAGAAAGGTAGAAGGTAATTCTTAGGTTTCCAGTT-C c.8027+6846_8027+6904del - Unclassified - 54/78 1
X-31673433-GTGAGGGGATGAACTTGATTCGATTTTGCAGGCTCAGAGATGGAAGGGAATTTGCCTCAC-G c.8027+2616_8027+2674del - Unclassified - 54/78 1
X-31675059-TCACAGGAGTTTTTACTCTCTAATGTCTAGCTCAGTTTCAAAATTTAGTTGGCCGCTTAA-T c.8027+990_8027+1048del - Unclassified - 54/78 1
X-31676096-G-A c.8027+11C>T - IntronicSNV - 54/78 1
X-31676105-A-G c.8027+2T>C - IntronicSNV - 54/78 1
X-31676106-C-A c.8027+1G>T - IntronicSNV - 54/78 1
X-31676106-C-T c.8027+1G>A - IntronicSNV - 54/78 1
X-31676105-AC-A c.8027+1del - Frameshift 54/79 - 1
X-31676124-C-T c.8010G>A p.W2670* Nonsense 54/79 - 1
X-31676235-C-T c.7899G>A p.W2633* Nonsense 54/79 - 2
X-31676236-C-T c.7898G>A p.W2633* Nonsense 54/79 - 1
X-31676240-G-A c.7894C>T p.Q2632* Nonsense 54/79 - 1
X-31676260-TG-GT c.7873_7874delinsAC p.Q2625T Missense 54/79 - 1
X-31690979-C-T c.7872+6513G>A - IntronicSNV - 53/78 1
X-31691113-CTAAGTCGGGCCAAATAAAGGCAAGGCCATGTATATAGGTTTATTCCAGGGAGCTGCAAG-C c.7872+6321_7872+6379del - Unclassified - 53/78 1
X-31696892-G-A c.7872+600C>T - IntronicSNV - 53/78 1
X-31697505-A-AT c.7858dup p.I2620Nfs*23 Frameshift 53/79 - 1
X-31697511-T-C c.7853A>G p.K2618R Missense 53/79 - 1
X-31697542-C-A c.7822G>T p.E2608* Nonsense 53/79 - 1
X-31697546-C-T c.7818G>A p.W2606* Nonsense 53/79 - 1
X-31697547-C-T c.7817G>A p.W2606* Nonsense 53/79 - 1
X-31697572-G-A c.7792C>T p.Q2598* Nonsense 53/79 - 3
X-31697586-T-A c.7778A>T p.E2593V Missense 53/79 - 1
X-31697596-C-A c.7768G>T p.E2590* Nonsense 53/79 - 1
X-31697609-C-T c.7755G>A p.W2585* Nonsense 53/79 - 2
X-31697614-G-A c.7750C>T p.Q2584* Nonsense 53/79 - 1
X-31697636-A-G c.7728T>C p.N2576= Synonymous 53/79 - 2
X-31697644-G-A c.7720C>T p.Q2574* Nonsense 53/79 - 2
X-31697653-G-A c.7711C>T p.R2571W Missense 53/79 - 1
X-31697659-G-A c.7705C>T p.Q2569* Nonsense 53/79 - 1
X-31697671-G-A c.7693C>T p.Q2565* Nonsense 53/79 - 1
X-31697674-CT-C c.7689del p.V2564Yfs*12 Frameshift 53/79 - 1
X-31697681-C-T c.7683G>A p.W2561* Nonsense 53/79 - 2
X-31697682-C-T c.7682G>A p.W2561* Nonsense 53/79 - 1
X-31697692-G-A c.7672C>T p.Q2558* Nonsense 53/79 - 2
X-31737563-T-C c.7660+10185A>G - IntronicSNV - 52/78 1
X-31740622-AGACATATACAAAATAAAAAGCTAAAGGGTTCATTAGACCTACAAGGCAAACAGTAATGG-A c.7660+7068_7660+7126del - Unclassified - 52/78 1
X-31746701-AACATATTGACAACTAGTCATTTCCTTAGGGAAGGGTTAACATAGCAGAATATAAATTAT-A c.7660+989_7660+1047del - Unclassified - 52/78 1
X-31747748-T-G c.7660A>C p.I2554L Missense 52/79 - 1
X-31747749-TTCG-T c.7657_7659del p.R2553del InFrameDeletion 52/79 - 1
X-31747751-G-A c.7657C>T p.R2553* Nonsense 52/79 - 9
X-31747756-G-A c.7652C>T p.T2551M Missense 52/79 - 1
X-31747789-CTT-C c.7618_7619del p.K2540Dfs*7 Frameshift 52/79 - 1
X-31747811-C-T c.7597G>A p.A2533T Missense 52/79 - 1
X-31747832-G-A c.7576C>T p.Q2526* Nonsense 52/79 - 1
X-31747837-C-T c.7571G>A p.R2524H Missense 52/79 - 1
X-31747844-G-A c.7564C>T p.Q2522* Nonsense 52/79 - 2
X-31747853-C-T c.7555G>A p.D2519N Missense 52/79 - 2
X-31747863-TGC-ACA c.7543_7545delinsTGT p.A2515C Missense 52/79 - 1
X-31747864-G-A c.7544C>T p.A2515V Missense 52/79 - 2
X-31747864-GC-TG c.7543_7544delinsCA p.A2515Q Missense 52/79 - 1
X-31775015-CTACTATTTAATATTTTAATGGGAAGAGTTGGATAAACCTAAATGTGCAGCATTGGGATT-C c.7542+17004_7542+17062del - Unclassified - 51/78 1
X-31778126-C-G c.7542+13951G>C - IntronicSNV - 51/78 1
X-31782780-C-T c.7542+9297G>A - IntronicSNV - 51/78 1
X-31792064-T-C c.7542+13A>G - IntronicSNV - 51/78 1
X-31792077-CTTCTGCTTGATGATCATCTCGTTGATATCCTCAAGGTCACCCACCATCACCCTCTGTGA-C c.7483_7541del p.S2495Gfs*33 InFrameDeletion 51/79 - 1
X-31792096-CT-C c.7523del p.E2508Gfs*2 Frameshift 51/79 - 1
X-31792096-T-C c.7523A>G p.E2508G Missense 51/79 - 1
X-31792105-TC-T c.7513del p.D2505Ifs*5 Frameshift 51/79 - 1
X-31792113-GGTCACCCACC-G c.7497_7506del p.M2499Ifs*8 Frameshift 51/79 - 1
X-31792147-T-C c.7472A>G p.Q2491R Missense 51/79 - 1
X-31792148-G-A c.7471C>T p.Q2491* Nonsense 51/79 - 1
X-31792151-C-T c.7468G>A p.D2490N Missense 51/79 - 1
X-31792164-C-T c.7455G>A p.W2485* Nonsense 51/79 - 1
X-31792182-C-T c.7437G>A p.W2479* Nonsense 51/79 - 3
X-31792185-AGCC-TG c.7431_7434delinsCA p.A2478Mfs*12 Frameshift 51/79 - 1
X-31792190-G-T c.7429C>A p.R2477= Synonymous 51/79 - 1
X-31792199-C-T c.7420G>A p.D2474N Missense 51/79 - 1
X-31792226-AG-A c.7392del p.L2465* Frameshift 51/79 - 2
X-31792258-G-GT c.7360dup p.T2454Nfs*37 Frameshift 51/79 - 1
X-31792269-AAC-TTA c.7348_7350delinsTAA p.V2450* Nonsense 51/79 - 1
X-31792270-A-AC c.7348dup p.V2450Gfs*3 Frameshift 51/79 - 2
X-31792291-G-GT c.7327dup p.T2443Nfs*10 Frameshift 51/79 - 2
X-31792301-G-A c.7318C>T p.Q2440* Nonsense 51/79 - 1
X-31792308-AG-TT c.7310_7311delinsAA p.S2437* Nonsense 51/79 - 1
X-31792345-G-A c.7310-36C>T - IntronicSNV - 50/78 1
X-31838024-C-T c.7309+68G>A - IntronicSNV - 50/78 1
X-31838087-C-T c.7309+5G>A - IntronicSNV - 50/78 1
X-31838091-C-T c.7309+1G>A - IntronicSNV - 50/78 1
X-31838091-CAGGCTCCA-C c.7302_7309del p.G2435Sfs*15 SpliceDonorDeletion 50/79 - 1
X-31838136-TG-T c.7265del p.A2422Efs*6 Frameshift 50/79 - 1
X-31838145-T-C c.7256A>G p.E2419G Missense 50/79 - 1
X-31838149-G-A c.7252C>T p.Q2418* Nonsense 50/79 - 1
X-31838172-C-T c.7229G>A p.W2410* Nonsense 50/79 - 1
X-31838199-C-T c.7202G>A p.R2401K Missense 50/79 - 1
X-31854782-G-A c.7200+53C>T - IntronicSNV - 49/78 3
X-31854782-G-C c.7200+53C>G - IntronicSNV - 49/78 4
X-31854782-G-T c.7200+53C>A - IntronicSNV - 49/78 3
X-31854834-CCTT-C c.7198_7200del p.K2400del InFrameDeletion 49/79 - 1
X-31854846-G-A c.7189C>T p.Q2397* Nonsense 49/79 - 2
X-31854852-C-T c.7183G>A p.A2395T Missense 49/79 - 1
X-31854871-A-T c.7164T>A p.H2388Q Missense 49/79 - 1
X-31854924-C-T c.7111G>A p.A2371T Missense 49/79 - 1
X-31854930-C-A c.7105G>T p.E2369* Nonsense 49/79 - 2
X-31854936-C-T c.7099G>A p.E2367K Missense 49/79 - 1
X-31875076-A-C c.7098+18229T>G - IntronicSNV - 48/78 1
X-31879593-ATACATTTTCTTATCTTAGCCAAAAGTCGAAACAAACTAAAGGCTCACTAATTGGAGTGC-A c.7098+13654_7098+13712del - Unclassified - 48/78 1
X-31893304-C-T c.7098+1G>A - IntronicSNV - 48/78 1
X-31893305-CCTT-C c.7096_7098del p.K2366del InFrameDeletion 48/79 - 1
X-31893307-T-G c.7096A>C p.K2366Q Missense 48/79 - 2
X-31893307-TTAACGTCAAATGGTCCTTCTTGGTTTGGTTGGTTATAAATTTCCAACTGATTCCTAATA-T c.7038_7096del p.I2347Gfs*3 Unclassified 48/79 - 1
X-31893318-G-T c.7085C>A p.P2362Q Missense 48/79 - 1
X-31893372-A-T c.7031T>A p.L2344* Nonsense 48/79 - 1
X-31893374-C-T c.7029G>A p.W2343* Nonsense 48/79 - 1
X-31893387-T-C c.7016A>G p.H2339R Missense 48/79 - 1
X-31893393-A-C c.7010T>G p.L2337* Nonsense 48/79 - 1
X-31893396-T-G c.7007A>C p.Q2336P Missense 48/79 - 1
X-31893397-G-A c.7006C>T p.Q2336* Nonsense 48/79 - 1
X-31893411-T-C c.6992A>G p.E2331G Missense 48/79 - 1
X-31893416-CT-GC c.6986_6987delinsGC p.K2329S Missense 48/79 - 1
X-31893417-T-C c.6986A>G p.K2329R Missense 48/79 - 1
X-31893418-T-TA c.6984_6985insT p.K2329* Nonsense 48/79 - 1
X-31893416-CT-C c.6986del p.K2329Sfs*9 Frameshift 48/79 - 3
X-31893423-T-TC c.6979dup p.E2327Gfs*5 Frameshift 48/79 - 1
X-31893424-C-A c.6979G>T p.E2327* Nonsense 48/79 - 1
X-31893430-G-A c.6973C>T p.Q2325* Nonsense 48/79 - 2
X-31893448-G-A c.6955C>T p.Q2319* Nonsense 48/79 - 4
X-31893460-C-A c.6943G>T p.E2315* Nonsense 48/79 - 1
X-31893469-TCTCAGGTAAAG-T c.6923_6933del p.A2308Efs*6 Frameshift 48/79 - 1
X-31893475-G-T c.6928C>A p.P2310T Missense 48/79 - 1
X-31893488-AAC-TTG c.6913_6915delinsCAA p.V2305Q Missense 48/79 - 1
X-31893490-C-A c.6913G>T p.V2305F Missense 48/79 - 1
X-31893862-C-T c.6913-372G>A - IntronicSNV - 47/78 1
X-31944967-C-T c.6912+2746G>A - IntronicSNV - 47/78 1
X-31947715-TTTATCCACTGGAGATTTGTCTGCTTGAGCTTATTTTCAAGTTTATCTTGCTCTTCTGGG-T c.6852_6910del p.S2284Rfs*8 InFrameDeletion 47/79 - 1
X-31947719-C-T c.6906G>A p.W2302* Nonsense 47/79 - 2
X-31947757-T-A c.6868A>T p.K2290* Nonsense 47/79 - 1
X-31947769-C-A c.6856G>T p.E2286* Nonsense 47/79 - 1
X-31947774-C-CT c.6850dup p.S2284Kfs*7 Frameshift 47/79 - 1
X-31947797-G-C c.6828C>G p.P2276= Synonymous 47/79 - 1
X-31947817-ATTGT-A c.6804_6807del p.K2268Nfs*2 Frameshift 47/79 - 3
X-31947829-T-A c.6796A>T p.I2266F Missense 47/79 - 1
X-31947828-AT-A c.6796del p.I2266Ffs*5 Frameshift 47/79 - 1
X-31947831-C-T c.6794G>A p.G2265E Missense 47/79 - 1
X-31947830-TC-T c.6794del p.G2265Efs*6 Frameshift 47/79 - 1
X-31947834-CT-C c.6791del p.Q2264Rfs*7 Frameshift 47/79 - 1
X-31947835-G-A c.6790C>T p.Q2264* Nonsense 47/79 - 2
X-31947860-GTAA-G c.6763_6765del p.L2256del InFrameDeletion 47/79 - 1
X-31950056-G-A c.6762+141C>T - IntronicSNV - 46/78 1
X-31950220-T-A c.6739A>T p.K2247* Nonsense 46/79 - 1
X-31950244-C-A c.6715G>T p.E2239* Nonsense 46/79 - 1
X-31950276-T-C c.6683A>G p.E2228G Missense 46/79 - 1
X-31950281-C-T c.6678G>A p.W2226* Nonsense 46/79 - 1
X-31950311-A-C c.6648T>G p.F2216L Missense 46/79 - 1
X-31950311-A-T c.6648T>A p.F2216L Missense 46/79 - 1
X-31950313-A-G c.6646T>C p.F2216L Missense 46/79 - 1
X-31950320-CA-C c.6638del p.L2213Cfs*8 Frameshift 46/79 - 2
X-31950337-C-A c.6622G>T p.E2208* Nonsense 46/79 - 1
X-31950342-AG-GC c.6616_6617delinsGC p.L2206A Missense 46/79 - 1
X-31950344-C-A c.6615G>T p.R2205S Missense 46/79 - 1
X-31950344-C-G c.6615G>C p.R2205S Missense 46/79 - 1
X-31969744-T-G c.6614+16712A>C - IntronicSNV - 45/78 2
X-31983146-C-A c.6614+3310G>T - IntronicSNV - 45/78 2
X-31986430-C-A c.6614+26G>T - IntronicSNV - 45/78 1
X-31986455-C-A c.6614+1G>T - IntronicSNV - 45/78 1
X-31986455-C-T c.6614+1G>A - IntronicSNV - 45/78 2
X-31986454-ACCTCTTTTTTCTGTCTGACAGCTGTTTGCAGACCT-A c.6581_6614+1del - SpliceDonorDeletion 45/79 - 1
X-31986458-C-A c.6612G>T p.K2204N Missense 45/79 - 1
X-31986458-C-G c.6612G>C p.K2204N Missense 45/79 - 1
X-31986471-G-C c.6599C>G p.S2200* Nonsense 45/79 - 2
X-31986481-T-TTC c.6588_6589insGA p.K2197Efs*11 Frameshift 45/79 - 1
X-31986489-T-G c.6581A>C p.E2194A Missense 45/79 - 1
X-31986492-CTGCCA-C c.6574_6578del p.W2192Gfs*29 Frameshift 45/79 - 1
X-31986510-C-CT c.6559dup p.S2187Kfs*36 Frameshift 45/79 - 1
X-31986515-CA-C c.6554del p.L2185Wfs*4 Frameshift 45/79 - 1
X-31986520-T-A c.6550A>T p.K2184* Nonsense 45/79 - 2
X-31986517-A-AT c.6552dup p.L2185Ifs*38 Frameshift 45/79 - 1
X-31986523-C-A c.6547G>T p.E2183* Nonsense 45/79 - 1
X-31986595-CA-C c.6474del p.V2159Sfs*4 Frameshift 45/79 - 1
X-31986596-AAC-A c.6472_6473del p.V2158Cfs*64 Frameshift 45/79 - 1
X-31986607-G-A c.6463C>T p.R2155W Missense 45/79 - 3
X-31986623-C-CT c.6446dup p.D2150Gfs*73 Frameshift 45/79 - 1
X-31986627-A-G c.6443T>C p.L2148P Missense 45/79 - 1
X-31986629-TTC-GTT c.6439_6441delinsAAC p.E2147N Missense 45/79 - 1
X-31986630-TC-GA c.6439_6440inv p.E2147S Missense 45/79 - 1
X-31986631-C-A c.6439G>T p.E2147* Nonsense 45/79 - 1
X-31986631-C-T c.6439G>A p.E2147K Missense 45/79 - 1
X-31995333-T-C c.6439-8702A>G - IntronicSNV - 44/78 1
X-31996830-C-T c.6439-10199G>A - IntronicSNV - 44/78 1
X-31997063-T-C c.6439-10432A>G - IntronicSNV - 44/78 1
X-32001277-C-T c.6439-14646G>A - IntronicSNV - 44/78 1
X-32003283-C-G c.6439-16652G>C - IntronicSNV - 44/78 1
X-32003283-C-T c.6439-16652G>A - IntronicSNV - 44/78 1
X-32003841-G-T c.6439-17210C>A - IntronicSNV - 44/78 1
X-32006808-C-T c.6439-20177G>A - IntronicSNV - 44/78 1
X-32015376-A-G c.6439-28745T>C - IntronicSNV - 44/78 1
X-32034270-C-T c.6439-47639G>A - IntronicSNV - 44/78 1
X-32079954-G-A c.6439-93323C>T - IntronicSNV - 44/78 1
X-32092366-C-T c.6439-105735G>A - IntronicSNV - 44/78 1
X-32092380-T-C c.6439-105749A>G - IntronicSNV - 44/78 1
X-32118843-G-T c.6438+116190C>A - IntronicSNV - 44/78 1
X-32148441-C-T c.6438+86592G>A - IntronicSNV - 44/78 1
X-32150662-G-A c.6438+84371C>T - IntronicSNV - 44/78 1
X-32150662-G-T c.6438+84371C>A - IntronicSNV - 44/78 1
X-32159644-A-G c.6438+75389T>C - IntronicSNV - 44/78 1
X-32186168-A-G c.6438+48865T>C - IntronicSNV - 44/78 1
X-32187215-C-A c.6438+47818G>T - IntronicSNV - 44/78 1
X-32190697-G-T c.6438+44336C>A - IntronicSNV - 44/78 1
X-32217186-T-C c.6438+17847A>G - IntronicSNV - 44/78 1
X-32218886-T-G c.6438+16147A>C - IntronicSNV - 44/78 1
X-32220764-GCC-G c.6438+14267_6438+14268del - IntronicDeletion - 44/78 1
X-32221093-A-T c.6438+13940T>A - IntronicSNV - 44/78 1
X-32235035-TTAAGATACCATTTGTATTTAGCATGTTCCCAATTCTCAGGAATTTGTGTCTTTCTGAGA-T c.6378_6436del p.F2126Lfs*77 InFrameDeletion 44/79 - 1
X-32235038-G-T c.6433C>A p.L2145I Missense 44/79 - 1
X-32235043-C-T c.6428G>A p.W2143* Nonsense 44/79 - 1
X-32235050-AT-A c.6420del p.K2140Nfs*23 Frameshift 44/79 - 1
X-32235056-C-T c.6415G>A p.A2139T Missense 44/79 - 1
X-32235063-C-T c.6408G>A p.W2136* Nonsense 44/79 - 1
X-32235064-C-T c.6407G>A p.W2136* Nonsense 44/79 - 1
X-32235078-TTG-T c.6391_6392del p.Q2131Nfs*3 Frameshift 44/79 - 2
X-32235082-GTCTT-G c.6385_6388del p.K2129Hfs*33 Frameshift 44/79 - 2
X-32235098-G-A c.6373C>T p.Q2125* Nonsense 44/79 - 3
X-32235107-C-A c.6364G>T p.E2122* Nonsense 44/79 - 1
X-32235114-C-T c.6357G>A p.W2119* Nonsense 44/79 - 1
X-32235118-CT-C c.6353del p.Q2118Rfs*3 Frameshift 44/79 - 1
X-32235118-T-C c.6353A>G p.Q2118R Missense 44/79 - 1
X-32235119-G-A c.6352C>T p.Q2118* Nonsense 44/79 - 2
X-32235134-AT-A c.6337del p.I2113* Frameshift 44/79 - 1
X-32235153-C-T c.6318G>A p.W2106* Nonsense 44/79 - 1
X-32235154-C-T c.6317G>A p.W2106* Nonsense 44/79 - 1
X-32235178-C-T c.6293G>A p.R2098Q Missense 44/79 - 1
X-32235179-G-A c.6292C>T p.R2098* Nonsense 44/79 - 8
X-32235249-G-A c.6291-69C>T - IntronicSNV - 43/78 1
X-32235295-C-T c.6291-115G>A - IntronicSNV - 43/78 1
X-32254552-G-A c.6291-19372C>T - IntronicSNV - 43/78 1
X-32254552-G-C c.6291-19372C>G - IntronicSNV - 43/78 1
X-32259471-A-G c.6291-24291T>C - IntronicSNV - 43/78 1
X-32274692-G-A c.6290+30954C>T - IntronicSNV - 43/78 3
X-32283492-G-C c.6290+22154C>G - IntronicSNV - 43/78 2
X-32287243-T-C c.6290+18403A>G - IntronicSNV - 43/78 1
X-32302570-T-C c.6290+3076A>G - IntronicSNV - 43/78 1
X-32305619-A-T c.6290+27T>A - IntronicSNV - 43/78 1
X-32305646-C-A c.6290G>T p.G2097V Missense 43/79 - 1
X-32305651-TCG-ACA c.6283_6285delinsTGT p.R2095C Missense 43/79 - 1
X-32305653-G-A c.6283C>T p.R2095* Nonsense 43/79 - 3
X-32305659-T-A c.6277A>T p.K2093* Nonsense 43/79 - 1
X-32305661-T-C c.6275A>G p.Y2092C Missense 43/79 - 1
X-32305677-T-A c.6259A>T p.K2087* Nonsense 43/79 - 1
X-32305682-C-T c.6254G>A p.W2085* Nonsense 43/79 - 1
X-32305683-CA-C c.6253del p.W2085Gfs*29 Frameshift 43/79 - 1
X-32305698-G-A c.6238C>T p.Q2080* Nonsense 43/79 - 1
X-32305704-G-A c.6232C>T p.L2078F Missense 43/79 - 1
X-32305713-G-A c.6223C>T p.Q2075* Nonsense 43/79 - 1
X-32305733-GGC-TGGG c.6201_6203delinsCCCA p.V2069Cfs*14 Frameshift 43/79 - 1
X-32305732-AGGC-A c.6201_6203del p.P2068del InFrameDeletion 43/79 - 1
X-32305749-A-G c.6187T>C p.L2063= Synonymous 43/79 - 1
X-32305797-G-A c.6139C>T p.Q2047* Nonsense 43/79 - 1
X-32305805-C-G c.6131G>C p.S2044T Missense 43/79 - 1
X-32305804-ACTAT-A c.6128_6131del p.D2043Vfs*29 Frameshift 43/79 - 4
X-32305809-TC-T c.6127del p.D2043Ifs*30 Frameshift 43/79 - 2
X-32324466-C-T c.6117+3733G>A - IntronicSNV - 42/78 1
X-32325765-T-C c.6117+2434A>G - IntronicSNV - 42/78 1
X-32328186-G-A c.6117+13C>T - IntronicSNV - 42/78 1
X-32328198-CCTT-C c.6115_6117del p.K2039del InFrameDeletion 42/79 - 1
X-32328213-C-A c.6103G>T p.E2035* Nonsense 42/79 - 6
X-32328255-G-A c.6061C>T p.P2021S Missense 42/79 - 1
X-32328267-G-A c.6049C>T p.L2017F Missense 42/79 - 1
X-32328270-G-C c.6046C>G p.Q2016E Missense 42/79 - 1
X-32328270-GT-G c.6045del p.E2015Dfs*24 Frameshift 42/79 - 2
X-32328282-A-AT c.6033dup p.L2012Ifs*11 Frameshift 42/79 - 1
X-32328291-G-A c.6025C>T p.Q2009* Nonsense 42/79 - 1
X-32328293-G-T c.6023C>A p.S2008* Nonsense 42/79 - 1
X-32328328-C-T c.5988G>A p.V1996= Synonymous 42/79 - 1
X-32328331-A-C c.5985T>G p.Y1995* Nonsense 42/79 - 1
X-32328341-TC-CT c.5974_5975delinsAG p.E1992R Missense 42/79 - 1
X-32345566-T-A c.5922+14651A>T - IntronicSNV - 41/78 1
X-32345566-T-G c.5922+14651A>C - IntronicSNV - 41/78 1
X-32352246-T-C c.5922+7971A>G - IntronicSNV - 41/78 1
X-32356321-C-T c.5922+3896G>A - IntronicSNV - 41/78 1
X-32358228-C-T c.5922+1989G>A - IntronicSNV - 41/78 1
X-32360206-T-G c.5922+11A>C - IntronicSNV - 41/78 1
X-32360217-CAAT-C c.5920_5922del p.I1974del InFrameDeletion 41/79 - 1
X-32360222-G-A c.5917C>T p.Q1973* Nonsense 41/79 - 1
X-32360225-GC-G c.5914del p.A1972Hfs*11 Frameshift 41/79 - 1
X-32360240-G-A c.5899C>T p.R1967* Nonsense 41/79 - 16
X-32360246-G-A c.5893C>T p.Q1965* Nonsense 41/79 - 3
X-32360253-T-A c.5886A>T p.K1962N Missense 41/79 - 1
X-32360254-T-C c.5885A>G p.K1962R Missense 41/79 - 1
X-32360263-AATTTCCCGCCAGC-A c.5864_5876del p.R1955Lfs*24 Frameshift 41/79 - 1
X-32360267-C-G c.5872G>C p.E1958Q Missense 41/79 - 1
X-32360271-C-T c.5868G>A p.W1956* Nonsense 41/79 - 2
X-32360272-C-T c.5867G>A p.W1956* Nonsense 41/79 - 2
X-32360275-C-T c.5864G>A p.R1955H Missense 41/79 - 2
X-32360288-G-A c.5851C>T p.Q1951* Nonsense 41/79 - 1
X-32360303-C-A c.5836G>T p.E1946* Nonsense 41/79 - 1
X-32360304-C-A c.5835G>T p.V1945= Synonymous 41/79 - 1
X-32360310-C-A c.5829G>T p.M1943I Missense 41/79 - 1
X-32360312-T-C c.5827A>G p.M1943V Missense 41/79 - 1
X-32360327-C-A c.5812G>T p.E1938* Nonsense 41/79 - 1
X-32360339-TC-T c.5800del p.E1934Rfs*49 Frameshift 41/79 - 1
X-32360342-C-T c.5797G>A p.A1933T Missense 41/79 - 1
X-32360344-T-C c.5795A>G p.Q1932R Missense 41/79 - 1
X-32360350-C-T c.5789G>A p.R1930H Missense 41/79 - 1
X-32360351-G-T c.5788C>A p.R1930S Missense 41/79 - 1
X-32360366-C-A c.5773G>T p.E1925* Nonsense 41/79 - 3
X-32360370-CTTT-C c.5767_5769del p.K1923del InFrameDeletion 41/79 - 1
X-32360381-G-A c.5758C>T p.Q1920* Nonsense 41/79 - 2
X-32360466-C-A c.5740-67G>T - IntronicSNV - 40/78 1
X-32361033-C-T c.5739+218G>A - IntronicSNV - 40/78 1
X-32361236-C-A c.5739+15G>T - IntronicSNV - 40/78 1
X-32361265-C-A c.5725G>T p.E1909* Nonsense 40/79 - 1
X-32361267-T-A c.5723A>T p.D1908V Missense 40/79 - 1
X-32361275-C-T c.5715G>A p.E1905= Synonymous 40/79 - 1
X-32361282-AGGCT-A c.5704_5707del p.S1902Yfs*10 Frameshift 40/79 - 1
X-32361289-C-T c.5701G>A p.A1901T Missense 40/79 - 1
X-32361291-A-C c.5699T>G p.L1900* Nonsense 40/79 - 1
X-32361292-A-T c.5698T>A p.L1900I Missense 40/79 - 1
X-32361292-A-AT c.5697dup p.L1900Ifs*6 Frameshift 40/79 - 2
X-32361292-AT-A c.5697del p.K1899Nfs*2 Frameshift 40/79 - 1
X-32361337-G-A c.5653C>T p.Q1885* Nonsense 40/79 - 1
X-32361343-T-A c.5647A>T p.K1883* Nonsense 40/79 - 1
X-32361344-G-C c.5646C>G p.Y1882* Nonsense 40/79 - 1
X-32361344-G-T c.5646C>A p.Y1882* Nonsense 40/79 - 2
X-32361349-G-A c.5641C>T p.Q1881* Nonsense 40/79 - 1
X-32361353-C-T c.5637G>A p.W1879* Nonsense 40/79 - 1
X-32361354-C-T c.5636G>A p.W1879* Nonsense 40/79 - 1
X-32361358-G-A c.5632C>T p.Q1878* Nonsense 40/79 - 3
X-32361375-GC-G c.5614del p.A1872Lfs*2 Frameshift 40/79 - 1
X-32361379-T-A c.5611A>T p.K1871* Nonsense 40/79 - 1
X-32361377-C-CT c.5612dup p.A1872Gfs*16 Frameshift 40/79 - 1
X-32361384-C-G c.5606G>C p.R1869T Missense 40/79 - 1
X-32361384-C-T c.5606G>A p.R1869K Missense 40/79 - 1
X-32361384-CTTCT-C c.5602_5605del p.R1868Efs*5 Frameshift 40/79 - 1
X-32361398-C-CA c.5591dup p.L1864Ffs*24 Frameshift 40/79 - 1
X-32363964-A-AAG c.5586+94_5586+95dup - IntronicInsertion - 39/78 1
X-32363965-A-AAG c.5586+94_5586+95insCT - IntronicInsertion - 39/78 1
X-32364060-CCTT-C c.5584_5586del p.K1862del InFrameDeletion 39/79 - 1
X-32364081-CTG-C c.5563_5564del p.Q1855Dfs*4 Frameshift 39/79 - 1
X-32364083-G-A c.5563C>T p.Q1855* Nonsense 39/79 - 1
X-32364092-G-A c.5554C>T p.Q1852* Nonsense 39/79 - 1
X-32364095-G-A c.5551C>T p.Q1851* Nonsense 39/79 - 1
X-32364104-T-A c.5542A>T p.K1848* Nonsense 39/79 - 1
X-32364113-C-A c.5533G>T p.E1845* Nonsense 39/79 - 2
X-32364116-G-A c.5530C>T p.R1844* Nonsense 39/79 - 9
X-32364120-TCT-CCA c.5524_5526delinsTGG p.R1842W Missense 39/79 - 1
X-32364140-G-A c.5506C>T p.Q1836* Nonsense 39/79 - 1
X-32364143-G-A c.5503C>T p.Q1835* Nonsense 39/79 - 1
X-32364145-A-C c.5501T>G p.L1834* Nonsense 39/79 - 1
X-32364145-A-T c.5501T>A p.L1834* Nonsense 39/79 - 1
X-32364158-T-A c.5488A>T p.R1830* Nonsense 39/79 - 1
X-32364161-G-A c.5485C>T p.Q1829* Nonsense 39/79 - 1
X-32364161-G-C c.5485C>G p.Q1829E Missense 39/79 - 2
X-32364166-A-T c.5480T>A p.L1827* Nonsense 39/79 - 2
X-32364170-C-A c.5476G>T p.E1826* Nonsense 39/79 - 1
X-32364194-C-A c.5452G>T p.E1818* Nonsense 39/79 - 2
X-32364897-G-A c.5449-700C>T - IntronicSNV - 38/78 1
X-32366422-T-C c.5448+101A>G - IntronicSNV - 38/78 1
X-32366523-CCAT-C c.5446_5448del p.M1816del InFrameDeletion 38/79 - 1
X-32366526-TA-T c.5445del p.D1815Efs*2 Frameshift 38/79 - 1
X-32366527-T-C c.5444A>G p.D1815G Missense 38/79 - 3
X-32366539-GT-G c.5432del p.D1811Afs*6 Frameshift 38/79 - 1
X-32366557-A-AC c.5413dup p.V1805Gfs*10 Frameshift 38/79 - 2
X-32366564-G-A c.5407C>T p.Q1803* Nonsense 38/79 - 1
X-32366567-G-A c.5404C>T p.Q1802* Nonsense 38/79 - 3
X-32366573-C-A c.5398G>T p.E1800* Nonsense 38/79 - 1
X-32366575-G-A c.5396C>T p.A1799V Missense 38/79 - 1
X-32366599-T-A c.5372A>T p.Q1791L Missense 38/79 - 1
X-32366600-G-A c.5371C>T p.Q1791* Nonsense 38/79 - 1
X-32366606-C-CT c.5364dup p.D1789Rfs*7 Frameshift 38/79 - 1
X-32366611-T-A c.5360A>T p.N1787I Missense 38/79 - 1
X-32366618-G-A c.5353C>T p.Q1785* Nonsense 38/79 - 2
X-32366621-C-T c.5350G>A p.E1784K Missense 38/79 - 3
X-32366630-T-A c.5341A>T p.K1781* Nonsense 38/79 - 1
X-32366699-T-G c.5326-54A>C - IntronicSNV - 37/78 1
X-32379144-TTCTACCCATTTTTTAATA-T c.5325+1743_5325+1760del - IntronicDeletion - 37/78 2
X-32380905-CCTT-C c.5323_5325del p.K1775del InFrameDeletion 37/79 - 2
X-32380922-T-A c.5308A>T p.R1770* Nonsense 37/79 - 2
X-32380939-A-C c.5291T>G p.F1764C Missense 37/79 - 1
X-32380941-TCG-CCA c.5287_5289delinsTGG p.R1763W Missense 37/79 - 1
X-32380943-G-A c.5287C>T p.R1763* Nonsense 37/79 - 7
X-32380945-AT-A c.5285del p.H1762Lfs*19 Frameshift 37/79 - 1
X-32380958-A-G c.5272T>C p.S1758P Missense 37/79 - 1
X-32380970-C-A c.5260G>T p.E1754* Nonsense 37/79 - 2
X-32380975-A-C c.5255T>G p.L1752* Nonsense 37/79 - 1
X-32380996-C-T c.5234G>A p.R1745H Missense 37/79 - 8
X-32381004-C-A c.5226G>T p.M1742I Missense 37/79 - 1
X-32381004-C-G c.5226G>C p.M1742I Missense 37/79 - 1
X-32381004-C-T c.5226G>A p.M1742I Missense 37/79 - 1
X-32381005-A-T c.5225T>A p.M1742K Missense 37/79 - 1
X-32381021-G-A c.5209C>T p.Q1737* Nonsense 37/79 - 2
X-32381020-TGGTCACGTGTA-T c.5199_5209del p.T1734Sfs*10 Frameshift 37/79 - 2
X-32381023-T-G c.5207A>C p.D1736A Missense 37/79 - 1
X-32381048-G-A c.5182C>T p.R1728C Missense 37/79 - 1
X-32381067-C-A c.5163G>T p.K1721N Missense 37/79 - 2
X-32381067-C-G c.5163G>C p.K1721N Missense 37/79 - 4
X-32381138-A-G c.5155-63T>C - IntronicSNV - 36/78 1
X-32381138-A-T c.5155-63T>A - IntronicSNV - 36/78 1
X-32382713-C-A c.5140G>T p.E1714* Nonsense 36/79 - 1
X-32382713-TC-T c.5140del p.E1714Kfs*7 Frameshift 36/79 - 1
X-32382713-C-CT c.5139dup p.E1714Rfs*5 Frameshift 36/79 - 1
X-32382719-G-A c.5134C>T p.Q1712* Nonsense 36/79 - 1
X-32382722-G-A c.5131C>T p.Q1711* Nonsense 36/79 - 2
X-32382730-T-C c.5123A>G p.K1708R Missense 36/79 - 1
X-32382743-C-T c.5110G>A p.E1704K Missense 36/79 - 1
X-32382748-A-G c.5105T>C p.L1702S Missense 36/79 - 1
X-32382751-AGT-A c.5100_5101del p.L1701Ffs*3 Frameshift 36/79 - 1
X-32382760-GC-AG c.5092_5093delinsCT p.A1698L Missense 36/79 - 1
X-32382764-G-A c.5089C>T p.Q1697* Nonsense 36/79 - 1
X-32382767-AT-A c.5086del p.I1696Ffs*25 Frameshift 36/79 - 1
X-32382821-G-A c.5032C>T p.Q1678* Nonsense 36/79 - 1
X-32383138-A-T c.5024T>A p.L1675* Nonsense 35/79 - 1
X-32383146-A-C c.5016T>G p.N1672K Missense 35/79 - 1
X-32383146-A-T c.5016T>A p.N1672K Missense 35/79 - 2
X-32383152-C-A c.5010G>T p.W1670C Missense 35/79 - 2
X-32383152-C-G c.5010G>C p.W1670C Missense 35/79 - 1
X-32383159-T-A c.5003A>T p.E1668V Missense 35/79 - 1
X-32383160-C-A c.5002G>T p.E1668* Nonsense 35/79 - 1
X-32383166-G-A c.4996C>T p.R1666* Nonsense 35/79 - 7
X-32383182-C-T c.4980G>A p.W1660* Nonsense 35/79 - 2
X-32383183-C-T c.4979G>A p.W1660* Nonsense 35/79 - 2
X-32383199-G-A c.4963C>T p.L1655F Missense 35/79 - 1
X-32383214-C-A c.4948G>T p.E1650* Nonsense 35/79 - 1
X-32383284-C-A c.4878G>T p.V1626= Synonymous 35/79 - 1
X-32383288-TT-CC c.4873_4874delinsGG p.K1625G Missense 35/79 - 1
X-32383292-G-A c.4870C>T p.Q1624* Nonsense 35/79 - 2
X-32383303-T-C c.4859A>G p.E1620G Missense 35/79 - 1
X-32383304-CTT-C c.4856_4857del p.K1619Rfs*3 Frameshift 35/79 - 1
X-32383304-CT-C c.4857del p.E1620Rfs*9 Frameshift 35/79 - 1
X-32383315-G-C c.4847C>G p.A1616G Missense 35/79 - 2
X-32393558-G-A c.4845+5069C>T - IntronicSNV - 34/78 1
X-32393558-G-T c.4845+5069C>A - IntronicSNV - 34/78 1
X-32396824-G-T c.4845+1803C>A - IntronicSNV - 34/78 1
X-32398626-C-T c.4845+1G>A - IntronicSNV - 34/78 1
X-32398629-T-A c.4843A>T p.K1615* Nonsense 34/79 - 1
X-32398632-C-A c.4840G>T p.G1614* Nonsense 34/79 - 1
X-32398634-C-T c.4838G>A p.W1613* Nonsense 34/79 - 2
X-32398643-T-A c.4829A>T p.E1610V Missense 34/79 - 1
X-32398652-A-T c.4820T>A p.L1607* Nonsense 34/79 - 1
X-32398660-A-T c.4812T>A p.P1604= Synonymous 34/79 - 1
X-32398662-G-GCTTC c.4809_4810insGAAG p.P1604Efs*3 Frameshift 34/79 - 2
X-32398666-T-A c.4806A>T p.G1602= Synonymous 34/79 - 1
X-32398668-C-A c.4804G>T p.G1602* Nonsense 34/79 - 1
X-32398695-C-A c.4777G>T p.E1593* Nonsense 34/79 - 1
X-32398698-T-C c.4774A>G p.M1592V Missense 34/79 - 1
X-32398714-C-T c.4758G>A p.W1586* Nonsense 34/79 - 1
X-32398715-C-T c.4757G>A p.W1586* Nonsense 34/79 - 1
X-32398719-CTG-C c.4751_4752del p.T1584Rfs*17 Frameshift 34/79 - 1
X-32398725-A-G c.4747T>C p.L1583= Synonymous 34/79 - 1
X-32398724-AAG-A c.4746_4747del p.L1583Dfs*18 Frameshift 34/79 - 2
X-32398743-G-A c.4729C>T p.R1577* Nonsense 34/79 - 10
X-32398779-G-A c.4693C>T p.Q1565* Nonsense 34/79 - 2
X-32398782-G-A c.4690C>T p.Q1564* Nonsense 34/79 - 2
X-32398795-TTAC-T c.4675_4677del p.V1559del InFrameDeletion 34/79 - 1
X-32398850-C-A c.4675-53G>T - IntronicSNV - 33/78 1
X-32398850-C-T c.4675-53G>A - IntronicSNV - 33/78 1
X-32404249-A-G c.4674+178T>C - IntronicSNV - 33/78 1
X-32404445-A-T c.4656T>A p.Y1552* Nonsense 33/79 - 1
X-32404470-C-T c.4631G>A p.R1544K Missense 33/79 - 1
X-32404470-CT-C c.4630del p.R1544Efs*2 Frameshift 33/79 - 2
X-32404483-C-A c.4618G>T p.E1540* Nonsense 33/79 - 1
X-32404488-G-A c.4613C>T p.P1538L Missense 33/79 - 1
X-32404489-G-A c.4612C>T p.P1538S Missense 33/79 - 1
X-32404495-C-A c.4606G>T p.E1536* Nonsense 33/79 - 1
X-32404501-G-A c.4600C>T p.Q1534* Nonsense 33/79 - 1
X-32404518-CT-C c.4583del p.Q1528Rfs*18 Frameshift 33/79 - 1
X-32404524-C-T c.4577G>A p.G1526E Missense 33/79 - 1
X-32404525-C-A c.4576G>T p.G1526* Nonsense 33/79 - 1
X-32404529-TC-T c.4572del p.T1525Lfs*21 Frameshift 33/79 - 1
X-32404531-T-A c.4570A>T p.K1524* Nonsense 33/79 - 1
X-32404536-A-C c.4565T>G p.V1522G Missense 33/79 - 1
X-32404536-CA-C c.4565del p.V1522Gfs*2 Frameshift 33/79 - 1
X-32404543-C-A c.4558G>T p.E1520* Nonsense 33/79 - 2
X-32404549-C-CA c.4551dup p.E1518* Nonsense 33/79 - 1
X-32404551-GACTTC-G c.4545_4549del p.K1516* Frameshift 33/79 - 1
X-32404572-T-C c.4529A>G p.K1510R Missense 33/79 - 3
X-32404574-A-C c.4527T>G p.Y1509* Nonsense 33/79 - 1
X-32404616-A-T c.4519-34T>A - IntronicSNV - 32/78 1
X-32406016-T-A c.4519-1434A>T - IntronicSNV - 32/78 1
X-32406016-T-C c.4519-1434A>G - IntronicSNV - 32/78 1
X-32407613-C-T c.4518+5G>A - IntronicSNV - 32/78 1
X-32407620-AC-A c.4516del p.V1506* Frameshift 32/79 - 1
X-32407617-CCA-C c.4517_4518del p.V1506Efs*4 SpliceDonorDeletion 32/79 - 1
X-32407626-G-A c.4510C>T p.H1504Y Missense 32/79 - 1
X-32407637-G-T c.4499C>A p.S1500* Nonsense 32/79 - 2
X-32407650-C-A c.4486G>T p.E1496* Nonsense 32/79 - 1
X-32407653-G-A c.4483C>T p.Q1495* Nonsense 32/79 - 3
X-32407664-T-G c.4472A>C p.K1491T Missense 32/79 - 1
X-32407663-CTT-C c.4471_4472del p.K1491Efs*19 Frameshift 32/79 - 1
X-32407689-T-C c.4447A>G p.M1483V Missense 32/79 - 1
X-32407693-TC-T c.4443del p.K1482Rfs*16 Frameshift 32/79 - 1
X-32407715-C-T c.4421G>A p.S1474N Missense 32/79 - 1
X-32407720-T-G c.4416A>C p.Q1472H Missense 32/79 - 1
X-32407722-G-A c.4414C>T p.Q1472* Nonsense 32/79 - 2
X-32407729-C-G c.4407G>C p.Q1469H Missense 32/79 - 1
X-32407730-T-C c.4406A>G p.Q1469R Missense 32/79 - 1
X-32407731-G-A c.4405C>T p.Q1469* Nonsense 32/79 - 1
X-32407734-C-T c.4402G>A p.E1468K Missense 32/79 - 1
X-32407746-G-T c.4390C>A p.P1464T Missense 32/79 - 1
X-32407761-G-A c.4375C>T p.R1459* Nonsense 32/79 - 6
X-32407782-G-A c.4354C>T p.Q1452* Nonsense 32/79 - 1
X-32407785-ATTT-A c.4348_4350del p.K1450del InFrameDeletion 32/79 - 1
X-32408188-CCTG-C c.4342_4344del p.Q1448del InFrameDeletion 31/79 - 1
X-32408204-T-C c.4328A>G p.Q1443R Missense 31/79 - 1
X-32408215-T-A c.4317A>T p.R1439S Missense 31/79 - 1
X-32408215-T-G c.4317A>C p.R1439S Missense 31/79 - 1
X-32408220-G-A c.4312C>T p.Q1438* Nonsense 31/79 - 1
X-32408229-C-A c.4303G>T p.E1435* Nonsense 31/79 - 3
X-32408233-C-A c.4299G>T p.G1433= Synonymous 31/79 - 1
X-32408238-G-A c.4294C>T p.Q1432* Nonsense 31/79 - 1
X-32408247-T-A c.4285A>T p.K1429* Nonsense 31/79 - 2
X-32408275-A-G c.4257T>C p.S1419= Synonymous 31/79 - 2
X-32408282-A-T c.4250T>A p.L1417* Nonsense 31/79 - 6
X-32408292-G-A c.4240C>T p.Q1414* Nonsense 31/79 - 4
X-32408311-T-C c.4234-13A>G - IntronicSNV - 30/78 1
X-32412214-G-A c.4234-3916C>T - IntronicSNV - 30/78 1
X-32429867-G-A c.4233+2C>T - IntronicSNV - 30/78 2
X-32429871-G-A c.4231C>T p.Q1411* Nonsense 30/79 - 2
X-32429889-G-A c.4213C>T p.Q1405* Nonsense 30/79 - 1
X-32429913-T-C c.4189A>G p.I1397V Missense 30/79 - 1
X-32429914-A-C c.4188T>G p.Y1396* Nonsense 30/79 - 1
X-32429914-A-T c.4188T>A p.Y1396* Nonsense 30/79 - 1
X-32429920-TGC-ACA c.4180_4182delinsTGT p.A1394C Missense 30/79 - 1
X-32429924-A-T c.4178T>A p.L1393* Nonsense 30/79 - 1
X-32429928-G-A c.4174C>T p.Q1392* Nonsense 30/79 - 2
X-32429931-T-A c.4171A>T p.K1391* Nonsense 30/79 - 1
X-32429970-AT-A c.4131del p.K1377Nfs*5 Frameshift 30/79 - 1
X-32429981-TC-CT c.4120_4121delinsAG p.E1374R Missense 30/79 - 1
X-32429982-C-A c.4120G>T p.E1374* Nonsense 30/79 - 1
X-32429981-TC-T c.4120del p.E1374Rfs*8 Frameshift 30/79 - 1
X-32429985-G-A c.4117C>T p.Q1373* Nonsense 30/79 - 4
X-32429987-G-A c.4115C>T p.A1372V Missense 30/79 - 1
X-32429994-G-A c.4108C>T p.Q1370* Nonsense 30/79 - 2
X-32430002-CT-C c.4100del p.Q1367Rfs*15 Frameshift 30/79 - 1
X-32430002-T-C c.4100A>G p.Q1367R Missense 30/79 - 1
X-32430003-G-A c.4099C>T p.Q1367* Nonsense 30/79 - 2
X-32430018-G-A c.4084C>T p.Q1362* Nonsense 30/79 - 1
X-32430029-AG-A c.4073del p.A1358Vfs*2 Frameshift 30/79 - 1
X-32430503-A-T c.4072-473T>A - IntronicSNV - 29/78 1
X-32454346-A-C c.4071+2012T>G - IntronicSNV - 29/78 2
X-32454346-A-G c.4071+2012T>C - IntronicSNV - 29/78 2
X-32454346-A-T c.4071+2012T>A - IntronicSNV - 29/78 2
X-32456357-C-T c.4071+1G>A - IntronicSNV - 29/78 2
X-32456372-C-A c.4057G>T p.E1353* Nonsense 29/79 - 1
X-32456379-AC-TT c.4049_4050delinsAA p.R1350Q Missense 29/79 - 1
X-32456380-C-T c.4049G>A p.R1350H Missense 29/79 - 1
X-32456417-C-A c.4012G>T p.E1338* Nonsense 29/79 - 1
X-32456429-C-A c.4000G>T p.G1334* Nonsense 29/79 - 1
X-32456429-C-T c.4000G>A p.G1334R Missense 29/79 - 1
X-32456440-AG-A c.3988del p.L1330* Frameshift 29/79 - 1
X-32456447-G-A c.3982C>T p.Q1328* Nonsense 29/79 - 2
X-32456450-C-T c.3979G>A p.A1327T Missense 29/79 - 1
X-32456458-C-A c.3971G>T p.R1324L Missense 29/79 - 1
X-32456458-C-T c.3971G>A p.R1324H Missense 29/79 - 1
X-32456459-G-A c.3970C>T p.R1324C Missense 29/79 - 1
X-32456488-C-T c.3941G>A p.R1314Q Missense 29/79 - 1
X-32456489-G-A c.3940C>T p.R1314* Nonsense 29/79 - 8
X-32456493-C-G c.3936G>C p.L1312F Missense 29/79 - 1
X-32456494-A-T c.3935T>A p.L1312* Nonsense 29/79 - 1
X-32456506-G-C c.3923C>G p.S1308* Nonsense 29/79 - 1
X-32456506-G-T c.3923C>A p.S1308* Nonsense 29/79 - 1
X-32459308-C-CA c.3909dup p.E1304* Nonsense 28/79 - 1
X-32459324-TCC-GCT c.3892_3894delinsAGC p.G1298S Missense 28/79 - 1
X-32459368-C-A c.3850G>T p.E1284* Nonsense 28/79 - 2
X-32459375-C-T c.3843G>A p.W1281* Nonsense 28/79 - 3
X-32459402-C-G c.3816G>C p.L1272F Missense 28/79 - 1
X-32459412-AT-A c.3806del p.H1269Lfs*14 Frameshift 28/79 - 1
X-32459414-C-T c.3804G>A p.W1268* Nonsense 28/79 - 1
X-32459415-C-T c.3803G>A p.W1268* Nonsense 28/79 - 2
X-32459449-A-G c.3787-18T>C - IntronicSNV - 27/78 2
X-32466569-TGACTTCCAAA-T c.3780_3786+3del - SpliceDonorDeletion 27/79 27/78 1
X-32466571-A-T c.3786+2T>A - IntronicSNV - 27/78 1
X-32466572-C-T c.3786+1G>A - IntronicSNV - 27/78 1
X-32466574-TCCAAAG-CC c.3779_3785delinsGG p.T1260Rfs*9 SpliceDonorBlockSubstitution 27/79 - 2
X-32466573-TTCCAAAG-T c.3779_3785del p.T1260Kfs*21 SpliceDonorDeletion 27/79 - 2
X-32466574-TC-T c.3784del p.E1262Kfs*21 Frameshift 27/79 - 1
X-32466582-CTTGCA-C c.3772_3776del p.C1258Dfs*11 Frameshift 27/79 - 1
X-32466593-C-CA c.3765dup p.G1256Wfs*15 Frameshift 27/79 - 2
X-32466612-C-T c.3747G>A p.W1249* Nonsense 27/79 - 2
X-32466613-C-T c.3746G>A p.W1249* Nonsense 27/79 - 1
X-32466617-G-A c.3742C>T p.Q1248* Nonsense 27/79 - 1
X-32466625-G-A c.3734C>T p.T1245I Missense 27/79 - 1
X-32466630-T-TA c.3728dup p.T1244Nfs*10 Frameshift 27/79 - 1
X-32466631-TA-T c.3728del p.L1243Qfs*12 Frameshift 27/79 - 1
X-32466632-G-T c.3727C>A p.L1243I Missense 27/79 - 1
X-32466638-C-A c.3721G>T p.E1241* Nonsense 27/79 - 1
X-32466648-TTTTAAGGCC-T c.3702_3710del p.A1235_K1237del InFrameDeletion 27/79 - 1
X-32466659-C-A c.3700G>T p.E1234* Nonsense 27/79 - 1
X-32466676-G-T c.3683C>A p.A1228D Missense 27/79 - 1
X-32466678-CTTGAGCTATGACA-C c.3669_3681del p.S1223Rfs*5 Frameshift 27/79 - 1
X-32466702-CTC-AAA c.3655_3657delinsTTT p.E1219F Missense 27/79 - 3
X-32466703-T-A c.3656A>T p.E1219V Missense 27/79 - 4
X-32466704-C-A c.3655G>T p.E1219* Nonsense 27/79 - 1
X-32466709-AAGGAGTTTCACTT-A c.3638_3650del p.K1213Ifs*5 Frameshift 27/79 - 1
X-32466719-CT-C c.3639del p.V1214* Frameshift 27/79 - 1
X-32466725-C-A c.3634G>T p.A1212S Missense 27/79 - 1
X-32466728-C-A c.3631G>T p.E1211* Nonsense 27/79 - 3
X-32466734-G-A c.3625C>T p.Q1209* Nonsense 27/79 - 1
X-32466737-G-A c.3622C>T p.Q1208* Nonsense 27/79 - 2
X-32466746-TC-T c.3613del p.E1205Kfs*10 Frameshift 27/79 - 3
X-32470726-C-G c.3603+2053G>C - IntronicSNV - 26/78 1
X-32471959-C-A c.3603+820G>T - IntronicSNV - 26/78 2
X-32472763-C-CT c.3603+15dup - IntronicInsertion - 26/78 1
X-32472763-CT-C c.3603+15del - IntronicDeletion - 26/78 1
X-32472776-T-TA c.3603+2dup - SpliceDonorInsertion - 26/78 3
X-32472777-A-G c.3603+2T>C - IntronicSNV - 26/78 1
X-32472778-C-A c.3603+1G>T - IntronicSNV - 26/78 1
X-32472778-C-T c.3603+1G>A - IntronicSNV - 26/78 2
X-32472779-C-T c.3603G>A p.K1201= Synonymous 26/79 - 1
X-32472778-CCTT-C c.3601_3603del p.K1201del InFrameDeletion 26/79 - 1
X-32472787-C-A c.3595G>T p.E1199* Nonsense 26/79 - 1
X-32472802-G-A c.3580C>T p.Q1194* Nonsense 26/79 - 4
X-32472804-A-T c.3578T>A p.L1193* Nonsense 26/79 - 1
X-32472810-T-C c.3572A>G p.D1191G Missense 26/79 - 1
X-32472812-TG-T c.3569del p.P1190Qfs*11 Frameshift 26/79 - 1
X-32472820-T-A c.3562A>T p.K1188* Nonsense 26/79 - 1
X-32472826-C-A c.3556G>T p.E1186* Nonsense 26/79 - 1
X-32472838-C-A c.3544G>T p.E1182* Nonsense 26/79 - 1
X-32472861-G-A c.3521C>T p.T1174I Missense 26/79 - 1
X-32472867-C-T c.3515G>A p.W1172* Nonsense 26/79 - 2
X-32472871-C-A c.3511G>T p.E1171* Nonsense 26/79 - 1
X-32472882-G-C c.3500C>G p.S1167* Nonsense 26/79 - 1
X-32472884-T-A c.3498A>T p.L1166= Synonymous 26/79 - 2
X-32472884-T-C c.3498A>G p.L1166= Synonymous 26/79 - 1
X-32472884-T-G c.3498A>C p.L1166= Synonymous 26/79 - 1
X-32472886-G-A c.3496C>T p.L1166= Synonymous 26/79 - 1
X-32472892-T-A c.3490A>T p.K1164* Nonsense 26/79 - 1
X-32472895-G-A c.3487C>T p.Q1163* Nonsense 26/79 - 4
X-32472896-G-A c.3486C>T p.L1162= Synonymous 26/79 - 1
X-32472896-G-C c.3486C>G p.L1162= Synonymous 26/79 - 1
X-32472896-G-T c.3486C>A p.L1162= Synonymous 26/79 - 1
X-32472903-TACAGTTTTCTCCAAACCTCCCTTCAA-T c.3454_3479del p.L1152Kfs*17 Frameshift 26/79 - 1
X-32472917-AC-CT c.3464_3465delinsAG p.G1155E Missense 26/79 - 1
X-32472934-C-A c.3448G>T p.E1150* Nonsense 26/79 - 1
X-32472935-C-A c.3447G>T p.K1149N Missense 26/79 - 1
X-32472935-C-G c.3447G>C p.K1149N Missense 26/79 - 1
X-32474793-T-A c.3433-1844A>T - IntronicSNV - 25/78 1
X-32474793-T-C c.3433-1844A>G - IntronicSNV - 25/78 1
X-32477826-C-A c.3432+3730G>T - IntronicSNV - 25/78 1
X-32479316-T-C c.3432+2240A>G - IntronicSNV - 25/78 2
X-32479520-T-C c.3432+2036A>G - IntronicSNV - 25/78 2
X-32480290-A-G c.3432+1266T>C - IntronicSNV - 25/78 4
X-32480290-A-T c.3432+1266T>A - IntronicSNV - 25/78 4
X-32481553-T-A c.3432+3A>T - IntronicSNV - 25/78 1
X-32481555-C-T c.3432+1G>A - IntronicSNV - 25/78 3
X-32481556-C-A c.3432G>T p.Q1144H Missense 25/79 - 3
X-32481556-CCTG-C c.3430_3432del p.Q1144del InFrameDeletion 25/79 - 2
X-32481558-TGTTGGCACATGTGATCCCACTGAGTGTTAAGTTCTTTGAGTTCTGTCTCAAGTCTCGAA-T c.3372_3430del p.S1125Gfs*33 InFrameDeletion 25/79 - 1
X-32481561-G-A c.3427C>T p.Q1143* Nonsense 25/79 - 2
X-32481564-A-G c.3424T>C p.C1142R Missense 25/79 - 1
X-32481568-G-C c.3420C>G p.H1140Q Missense 25/79 - 1
X-32481568-G-T c.3420C>A p.H1140Q Missense 25/79 - 1
X-32481570-G-T c.3418C>A p.H1140N Missense 25/79 - 1
X-32481575-C-T c.3413G>A p.W1138* Nonsense 25/79 - 2
X-32481579-G-A c.3409C>T p.Q1137* Nonsense 25/79 - 3
X-32481600-C-A c.3388G>T p.E1130* Nonsense 25/79 - 2
X-32481612-T-A c.3376A>T p.R1126* Nonsense 25/79 - 1
X-32481614-G-T c.3374C>A p.S1125* Nonsense 25/79 - 1
X-32481630-C-A c.3358G>T p.E1120* Nonsense 25/79 - 1
X-32481636-C-A c.3352G>T p.E1118* Nonsense 25/79 - 1
X-32481642-T-A c.3346A>T p.K1116* Nonsense 25/79 - 1
X-32481648-T-A c.3340A>T p.K1114* Nonsense 25/79 - 1
X-32481651-G-A c.3337C>T p.Q1113* Nonsense 25/79 - 1
X-32481660-C-A c.3328G>T p.E1110* Nonsense 25/79 - 2
X-32481693-G-A c.3295C>T p.Q1099* Nonsense 25/79 - 3
X-32481698-T-C c.3290A>G p.D1097G Missense 25/79 - 1
X-32481759-A-G c.3277-48T>C - IntronicSNV - 24/78 1
X-32481759-A-T c.3277-48T>A - IntronicSNV - 24/78 1
X-32482702-C-T c.3276+1G>A - IntronicSNV - 24/78 2
X-32482702-C-CT c.3276dup p.L1093Tfs*5 SpliceDonorInsertion 24/79 - 1
X-32482704-C-A c.3275G>T p.R1092I Missense 24/79 - 1
X-32482705-T-A c.3274A>T p.R1092* Nonsense 24/79 - 1
X-32482711-G-A c.3268C>T p.Q1090* Nonsense 24/79 - 1
X-32482720-G-A c.3259C>T p.Q1087* Nonsense 24/79 - 3
X-32482721-C-CT c.3257dup p.Q1087Afs*11 Frameshift 24/79 - 2
X-32482721-CT-C c.3257del p.K1086Sfs*3 Frameshift 24/79 - 1
X-32482737-G-T c.3242C>A p.S1081* Nonsense 24/79 - 1
X-32482743-C-T c.3236G>A p.G1079E Missense 24/79 - 1
X-32482747-G-GTC c.3231_3232insGA p.L1078Dfs*8 Frameshift 24/79 - 1
X-32482753-G-C c.3226C>G p.P1076A Missense 24/79 - 1
X-32482754-C-T c.3225G>A p.W1075* Nonsense 24/79 - 1
X-32482755-C-T c.3224G>A p.W1075* Nonsense 24/79 - 2
X-32482759-C-A c.3220G>T p.E1074* Nonsense 24/79 - 2
X-32482762-C-A c.3217G>T p.E1073* Nonsense 24/79 - 4
X-32482762-C-T c.3217G>A p.E1073K Missense 24/79 - 1
X-32482764-T-C c.3215A>G p.K1072R Missense 24/79 - 1
X-32482779-ACTTCAGCCATCCATTT-A c.3184_3199del p.K1062Lfs*5 Frameshift 24/79 - 1
X-32482785-G-GCT c.3193_3194insAG p.A1065Efs*8 Frameshift 24/79 - 1
X-32482791-C-T c.3188G>A p.W1063* Nonsense 24/79 - 1
X-32482798-T-G c.3181A>C p.K1061Q Missense 24/79 - 1
X-32482807-G-A c.3172C>T p.Q1058* Nonsense 24/79 - 1
X-32482811-G-A c.3168C>T p.H1056= Synonymous 24/79 - 1
X-32482814-ATT-CTC c.3163_3165delinsGAG p.N1055E Missense 24/79 - 1
X-32486616-TGAATTTTTCGGAGTTTATTCATTTGCTCCTCTAGCTTTTGACAATGCTCAACCAGCTGG-T c.3102_3160del p.Q1035Efs*12 InFrameDeletion 23/79 - 1
X-32486626-G-A c.3151C>T p.R1051* Nonsense 23/79 - 5
X-32486641-G-A c.3136C>T p.Q1046* Nonsense 23/79 - 1
X-32486648-T-A c.3129A>T p.L1043= Synonymous 23/79 - 1
X-32486648-T-C c.3129A>G p.L1043= Synonymous 23/79 - 1
X-32486648-T-G c.3129A>C p.L1043= Synonymous 23/79 - 1
X-32486650-G-A c.3127C>T p.L1043= Synonymous 23/79 - 1
X-32486656-G-A c.3121C>T p.Q1041* Nonsense 23/79 - 1
X-32486678-G-A c.3099C>T p.S1033= Synonymous 23/79 - 1
X-32486678-G-C c.3099C>G p.S1033= Synonymous 23/79 - 1
X-32486678-G-T c.3099C>A p.S1033= Synonymous 23/79 - 1
X-32486689-T-G c.3088A>C p.K1030Q Missense 23/79 - 1
X-32486688-TTCCAGCGTCCCTCAATTTCTTCAAATTCTGATTGA-T c.3054_3088del p.Y1018* Frameshift 23/79 - 1
X-32486690-C-T c.3087G>A p.W1029* Nonsense 23/79 - 2
X-32486691-C-T c.3086G>A p.W1029* Nonsense 23/79 - 1
X-32486701-CA-C c.3075del p.I1025Mfs*19 Frameshift 23/79 - 1
X-32486722-G-A c.3055C>T p.Q1019* Nonsense 23/79 - 1
X-32486749-C-G c.3028G>C p.A1010P Missense 23/79 - 1
X-32486756-C-T c.3021G>A p.S1007= Synonymous 23/79 - 1
X-32486756-TC-T c.3021del p.K1008Rfs*36 Frameshift 23/79 - 1
X-32486767-T-A c.3010A>T p.K1004* Nonsense 23/79 - 1
X-32486767-T-C c.3010A>G p.K1004E Missense 23/79 - 1
X-32486773-TG-T c.3003del p.T1002Lfs*2 Frameshift 23/79 - 1
X-32486786-G-C c.2991C>G p.Y997* Nonsense 23/79 - 2
X-32486800-G-A c.2977C>T p.Q993* Nonsense 23/79 - 1
X-32486803-G-A c.2974C>T p.Q992* Nonsense 23/79 - 1
X-32486806-C-G c.2971G>C p.E991Q Missense 23/79 - 2
X-32486809-G-A c.2968C>T p.Q990* Nonsense 23/79 - 2
X-32486814-GA-G c.2962del p.S988Lfs*16 Frameshift 23/79 - 1
X-32486821-G-A c.2956C>T p.Q986* Nonsense 23/79 - 3
X-32486917-T-C c.2950-90A>G - IntronicSNV - 22/78 1
X-32486917-T-G c.2950-90A>C - IntronicSNV - 22/78 1
X-32489372-G-A c.2949+909C>T - IntronicSNV - 22/78 1
X-32490280-C-A c.2949+1G>T - IntronicSNV - 22/78 1
X-32490283-G-A c.2947C>T p.Q983* Nonsense 22/79 - 1
X-32490285-A-T c.2945T>A p.L982* Nonsense 22/79 - 1
X-32490297-CT-GC c.2932_2933delinsGC p.R978A Missense 22/79 - 1
X-32490304-C-A c.2926G>T p.E976* Nonsense 22/79 - 1
X-32490328-T-TTC c.2901_2902insGA p.S968Efs*37 Frameshift 22/79 - 1
X-32490343-A-G c.2887T>C p.S963P Missense 22/79 - 1
X-32490345-A-T c.2885T>A p.L962H Missense 22/79 - 1
X-32490348-TT-AG c.2881_2882delinsCT p.K961L Missense 22/79 - 1
X-32490360-T-TG c.2869dup p.Q957Pfs*12 Frameshift 22/79 - 1
X-32490364-G-A c.2866C>T p.Q956* Nonsense 22/79 - 2
X-32490368-C-T c.2862G>A p.W954* Nonsense 22/79 - 1
X-32490369-C-T c.2861G>A p.W954* Nonsense 22/79 - 1
X-32490374-TCCTG-T c.2853_2856del p.R952Hfs*51 Frameshift 22/79 - 1
X-32490375-CT-TA c.2854_2855delinsTA p.R952* Nonsense 22/79 - 1
X-32490376-T-A c.2854A>T p.R952W Missense 22/79 - 1
X-32490397-G-A c.2833C>T p.Q945* Nonsense 22/79 - 1
X-32490397-TG-T c.2833del p.Q945Rfs*4 Frameshift 22/79 - 1
X-32490398-A-C c.2832T>G p.Y944* Nonsense 22/79 - 1
X-32490401-GCG-TCA c.2827_2829delinsTGA p.R943* Nonsense 22/79 - 1
X-32490403-G-A c.2827C>T p.R943C Missense 22/79 - 1
X-32490414-A-T c.2816T>A p.L939* Nonsense 22/79 - 1
X-32490421-C-CA c.2808dup p.D937* SpliceAcceptorInsertion - - 1
X-32503035-AC-A c.2803+1del - IntronicDeletion - 21/78 1
X-32503035-C-T c.2803+1G>A - IntronicSNV - 21/78 1
X-32503042-G-A c.2797C>T p.Q933* Nonsense 21/79 - 1
X-32503048-C-A c.2791G>T p.E931* Nonsense 21/79 - 2
X-32503055-TCTGG-T c.2780_2783del p.A927Efs*21 Frameshift 21/79 - 1
X-32503062-TG-GC c.2776_2777delinsGC p.Q926A Missense 21/79 - 8
X-32503063-G-A c.2776C>T p.Q926* Nonsense 21/79 - 1
X-32503071-GA-G c.2767del p.S923Lfs*26 Frameshift 21/79 - 1
X-32503081-G-A c.2758C>T p.Q920* Nonsense 21/79 - 1
X-32503116-T-G c.2723A>C p.D908A Missense 21/79 - 2
X-32503132-C-A c.2707G>T p.G903* Nonsense 21/79 - 1
X-32503133-T-C c.2706A>G p.Q902= Synonymous 21/79 - 1
X-32503135-G-A c.2704C>T p.Q902* Nonsense 21/79 - 2
X-32503136-TC-GT c.2702_2703delinsAC p.G901D Missense 21/79 - 1
X-32503138-C-A c.2701G>T p.G901* Nonsense 21/79 - 1
X-32503149-AG-A c.2689del p.L897* Frameshift 21/79 - 1
X-32503162-G-A c.2677C>T p.Q893* Nonsense 21/79 - 2
X-32503164-A-T c.2675T>A p.I892N Missense 21/79 - 1
X-32503164-ATT-A c.2673_2674del p.K891Nfs*28 Frameshift 21/79 - 1
X-32503164-AT-A c.2674del p.I892Ffs*4 Frameshift 21/79 - 1
X-32503171-A-AT c.2667dup p.L890Ifs*30 Frameshift 21/79 - 1
X-32503174-G-A c.2665C>T p.R889* Nonsense 21/79 - 3
X-32503175-TTC-GTT c.2662_2664delinsAAC p.E888N Missense 21/79 - 1
X-32503177-C-A c.2662G>T p.E888* Nonsense 21/79 - 1
X-32503177-CA-T c.2661_2662delinsA p.E888Nfs*3 Frameshift 21/79 - 1
X-32503177-C-T c.2662G>A p.E888K Missense 21/79 - 1
X-32503189-G-A c.2650C>T p.Q884* Nonsense 21/79 - 1
X-32503194-T-A c.2645A>T p.D882V Missense 21/79 - 6
X-32503194-T-C c.2645A>G p.D882G Missense 21/79 - 6
X-32503197-G-C c.2642C>G p.S881* Nonsense 21/79 - 1
X-32503201-AG-A c.2638del p.L880Yfs*11 Frameshift 21/79 - 1
X-32503204-G-A c.2635C>T p.R879W Missense 21/79 - 1
X-32503213-C-A c.2626G>T p.E876* Nonsense 21/79 - 1
X-32503214-ATC-CTT c.2623_2625delinsAAG p.D875K Missense 21/79 - 1
X-32503216-C-T c.2623G>A p.D875N Missense 21/79 - 1
X-32509393-C-T c.2622+1G>A - IntronicSNV - 20/78 3
X-32509394-CTTACAAATTTTTAACTGACTTTTAATTGCTGTTGGCTCTGATGGGGTGGTGGGTTGGAT-C c.2563_2621del p.I855Gfs*2 Unclassified 20/79 - 1
X-32509400-A-C c.2616T>G p.I872M Missense 20/79 - 1
X-32509404-T-G c.2612A>C p.K871T Missense 20/79 - 1
X-32509405-T-A c.2611A>T p.K871* Nonsense 20/79 - 1
X-32509401-A-AT c.2614dup p.I872Nfs*3 Frameshift 20/79 - 1
X-32509410-TG-GA c.2605_2606delinsTC p.Q869S Missense 20/79 - 1
X-32509411-G-A c.2605C>T p.Q869* Nonsense 20/79 - 2
X-32509425-TG-T c.2591del p.T864Kfs*7 Frameshift 20/79 - 1
X-32509434-G-C c.2582C>G p.S861* Nonsense 20/79 - 2
X-32509434-G-T c.2582C>A p.S861* Nonsense 20/79 - 1
X-32509444-T-A c.2572A>T p.T858S Missense 20/79 - 1
X-32509444-TG-T c.2571del p.T858Pfs*13 Frameshift 20/79 - 2
X-32509450-G-A c.2566C>T p.Q856* Nonsense 20/79 - 1
X-32509456-T-A c.2560A>T p.K854* Nonsense 20/79 - 1
X-32509460-C-G c.2556G>C p.W852C Missense 20/79 - 1
X-32509460-C-T c.2556G>A p.W852* Nonsense 20/79 - 1
X-32509461-C-T c.2555G>A p.W852* Nonsense 20/79 - 1
X-32509469-CA-C c.2547del p.E850Kfs*4 Frameshift 20/79 - 1
X-32509495-G-A c.2521C>T p.Q841* Nonsense 20/79 - 3
X-32509498-G-A c.2518C>T p.Q840* Nonsense 20/79 - 1
X-32509504-G-A c.2512C>T p.Q838* Nonsense 20/79 - 2
X-32509516-C-T c.2500G>A p.A834T Missense 20/79 - 1
X-32509528-T-A c.2488A>T p.N830Y Missense 20/79 - 1
X-32509529-C-T c.2487G>A p.Q829= Synonymous 20/79 - 1
X-32509531-G-A c.2485C>T p.Q829* Nonsense 20/79 - 1
X-32509547-TAA-T c.2468_2469del p.L823Qfs*14 Frameshift 20/79 - 1
X-32509573-AATTCGATCCACCGG-A c.2430_2443del p.R811Lfs*6 Frameshift 20/79 - 1
X-32509576-C-A c.2440G>T p.E814* Nonsense 20/79 - 1
X-32509580-C-T c.2436G>A p.W812* Nonsense 20/79 - 1
X-32509582-A-T c.2434T>A p.W812R Missense 20/79 - 1
X-32509583-CCG-GCT c.2431_2433delinsAGC p.R811S Missense 20/79 - 1
X-32509591-T-TTC c.2424_2425insGA p.N809Efs*12 Frameshift 20/79 - 1
X-32509597-G-A c.2419C>T p.Q807* Nonsense 20/79 - 1
X-32509600-C-T c.2416G>A p.E806K Missense 20/79 - 1
X-32509602-G-C c.2414C>G p.S805* Nonsense 20/79 - 3
X-32509609-G-A c.2407C>T p.Q803* Nonsense 20/79 - 2
X-32509612-T-G c.2404A>C p.K802Q Missense 20/79 - 1
X-32509616-TG-T c.2400del p.S800Rfs*9 Frameshift 20/79 - 1
X-32509621-C-CT c.2394dup p.D799Rfs*2 Frameshift 20/79 - 1
X-32509625-A-C c.2391T>G p.N797K Missense 20/79 - 1
X-32509633-C-CA c.2382_2383insT p.G795Wfs*3 SpliceAcceptorInsertion 20/79 - 1
X-32509633-C-CG c.2382_2383insC p.G795Rfs*3 SpliceAcceptorInsertion 20/79 - 1
X-32509633-C-CT c.2382_2383insA p.G795Rfs*3 SpliceAcceptorInsertion 20/79 - 1
X-32518960-T-C c.2380+912A>G - IntronicSNV - 19/78 1
X-32519869-T-G c.2380+3A>C - IntronicSNV - 19/78 2
X-32519872-C-A c.2380G>T p.E794* Nonsense 19/79 - 1
X-32519872-C-T c.2380G>A p.E794K Missense 19/79 - 2
X-32519877-A-G c.2375T>C p.V792A Missense 19/79 - 1
X-32519884-G-A c.2368C>T p.Q790* Nonsense 19/79 - 1
X-32519887-C-A c.2365G>T p.E789* Nonsense 19/79 - 1
X-32519887-C-T c.2365G>A p.E789K Missense 19/79 - 1
X-32519896-C-T c.2356G>A p.A786T Missense 19/79 - 1
X-32519899-G-A c.2353C>T p.Q785* Nonsense 19/79 - 2
X-32519904-G-C c.2348C>G p.S783* Nonsense 19/79 - 1
X-32519920-G-A c.2332C>T p.Q778* Nonsense 19/79 - 1
X-32519922-A-G c.2330T>C p.L777P Missense 19/79 - 1
X-32519929-T-G c.2323A>C p.R775= Synonymous 19/79 - 1
X-32519935-T-A c.2317A>T p.K773* Nonsense 19/79 - 2
X-32519944-T-A c.2308A>T p.K770* Nonsense 19/79 - 3
X-32519946-T-G c.2306A>C p.E769A Missense 19/79 - 1
X-32519947-C-A c.2305G>T p.E769* Nonsense 19/79 - 1
X-32519950-G-A c.2302C>T p.R768* Nonsense 19/79 - 10
X-32519952-CT-C c.2300del p.E767Gfs*26 Frameshift 19/79 - 2
X-32519953-C-A c.2299G>T p.E767* Nonsense 19/79 - 1
X-32519953-C-T c.2299G>A p.E767K Missense 19/79 - 1
X-32519959-C-A c.2293G>T p.A765S Missense 19/79 - 1
X-32530777-A-T c.2292+5348T>A - IntronicSNV - 18/78 1
X-32536125-CATTGACTTTTTCTTTTAAGTCTGAGAAGTTGCCTTCCTTCCGAAAGATTGCAAATTCAG-C c.2234_2292del p.P745Rfs*8 InFrameDeletion 18/79 - 1
X-32536133-T-C c.2284A>G p.K762E Missense 18/79 - 1
X-32536131-TTTTTC-T c.2281_2285del p.E761Sfs*10 Frameshift 18/79 - 2
X-32536141-A-G c.2276T>C p.L759S Missense 18/79 - 1
X-32536147-G-C c.2270C>G p.S757* Nonsense 18/79 - 2
X-32536147-G-T c.2270C>A p.S757* Nonsense 18/79 - 1
X-32536163-TC-T c.2253del p.K752Rfs*8 Frameshift 18/79 - 1
X-32536190-G-A c.2227C>T p.Q743* Nonsense 18/79 - 1
X-32536202-C-A c.2215G>T p.E739* Nonsense 18/79 - 1
X-32536215-C-T c.2202G>A p.W734* Nonsense 18/79 - 1
X-32536226-AG-A c.2191del p.L731Ffs*29 Frameshift 18/79 - 2
X-32536241-C-A c.2176G>T p.V726F Missense 18/79 - 1
X-32536245-C-A c.2172G>T p.L724F Missense 18/79 - 1
X-32536245-C-G c.2172G>C p.L724F Missense 18/79 - 1
X-32536247-A-C c.2170T>G p.L724V Missense 18/79 - 1
X-32558332-C-T c.2168+4944G>A - IntronicSNV - 17/78 2
X-32561619-T-A c.2168+1657A>T - IntronicSNV - 17/78 2
X-32563263-A-G c.2168+13T>C - IntronicSNV - 17/78 1
X-32563275-C-T c.2168+1G>A - IntronicSNV - 17/78 1
X-32563276-C-T c.2168G>A p.R723K Missense 17/79 - 1
X-32563286-T-G c.2158A>C p.I720L Missense 17/79 - 1
X-32563295-C-A c.2149G>T p.D717Y Missense 17/79 - 1
X-32563295-C-T c.2149G>A p.D717N Missense 17/79 - 1
X-32563299-AGT-TTA c.2143_2145delinsTAA p.T715* Nonsense 17/79 - 1
X-32563307-G-A c.2137C>T p.Q713* Nonsense 17/79 - 4
X-32563319-G-A c.2125C>T p.Q709* Nonsense 17/79 - 1
X-32563318-T-TG c.2125dup p.Q709Pfs*11 Frameshift 17/79 - 1
X-32563332-T-A c.2112A>T p.P704= Synonymous 17/79 - 1
X-32563332-T-C c.2112A>G p.P704= Synonymous 17/79 - 1
X-32563332-T-G c.2112A>C p.P704= Synonymous 17/79 - 1
X-32563340-C-T c.2104G>A p.E702K Missense 17/79 - 1
X-32563346-G-A c.2098C>T p.Q700* Nonsense 17/79 - 1
X-32563349-C-GA c.2095delinsTC p.A699Sfs*21 Frameshift 17/79 - 1
X-32563351-TG-GC c.2092_2093delinsGC p.H698A Missense 17/79 - 3
X-32563354-TT-GC c.2089_2090delinsGC p.K697A Missense 17/79 - 1
X-32563357-AC-A c.2086del p.V696* Frameshift 17/79 - 1
X-32563367-G-A c.2077C>T p.Q693* Nonsense 17/79 - 2
X-32563372-CT-GC c.2071_2072delinsGC p.R691A Missense 17/79 - 1
X-32563387-G-A c.2057C>T p.T686I Missense 17/79 - 1
X-32563389-T-TA c.2054dup p.T686Nfs*34 Frameshift 17/79 - 1
X-32563393-G-C c.2051C>G p.T684R Missense 17/79 - 1
X-32563397-C-A c.2047G>T p.E683* Nonsense 17/79 - 1
X-32563412-G-A c.2032C>T p.Q678* Nonsense 17/79 - 3
X-32563427-G-A c.2017C>T p.Q673* Nonsense 17/79 - 1
X-32563449-AA-CT c.1994_1995delinsAG p.I665K Missense 17/79 - 1
X-32563449-AAT-TTA c.1993_1995delinsTAA p.I665* Nonsense 17/79 - 1
X-32563451-T-C c.1993A>G p.I665V Missense 17/79 - 1
X-32563488-A-C c.1993-37T>G - IntronicSNV - 16/78 1
X-32563488-A-T c.1993-37T>A - IntronicSNV - 16/78 1
X-32576634-G-A c.1992+7185C>T - IntronicSNV - 16/78 2
X-32583086-T-A c.1992+733A>T - IntronicSNV - 16/78 1
X-32583818-C-A c.1992+1G>T - IntronicSNV - 16/78 1
X-32583819-C-A c.1992G>T p.Q664H Missense 16/79 - 1
X-32583819-C-G c.1992G>C p.Q664H Missense 16/79 - 1
X-32583821-G-A c.1990C>T p.Q664* Nonsense 16/79 - 2
X-32583822-TGC-ATG c.1987_1989delinsCAT p.A663H Missense 16/79 - 2
X-32583831-CTT-C c.1978_1979del p.K660Efs*59 Frameshift 16/79 - 1
X-32583839-GT-G c.1971del p.K657Nfs*20 Frameshift 16/79 - 1
X-32583844-T-G c.1967A>C p.Q656P Missense 16/79 - 1
X-32583850-A-C c.1961T>G p.L654* Nonsense 16/79 - 2
X-32583850-A-T c.1961T>A p.L654* Nonsense 16/79 - 1
X-32583858-C-T c.1953G>A p.W651* Nonsense 16/79 - 1
X-32583859-C-A c.1952G>T p.W651L Missense 16/79 - 1
X-32583859-C-G c.1952G>C p.W651S Missense 16/79 - 1
X-32583859-C-T c.1952G>A p.W651* Nonsense 16/79 - 3
X-32583877-T-C c.1934A>G p.D645G Missense 16/79 - 2
X-32583882-C-T c.1929G>A p.W643* Nonsense 16/79 - 1
X-32583883-C-T c.1928G>A p.W643* Nonsense 16/79 - 1
X-32583896-T-C c.1915A>G p.K639E Missense 16/79 - 1
X-32583899-G-A c.1912C>T p.Q638* Nonsense 16/79 - 1
X-32583908-A-C c.1903T>G p.S635A Missense 16/79 - 1
X-32583912-AT-CC c.1898_1899delinsGG p.N633R Missense 16/79 - 1
X-32583912-A-AT c.1898dup p.N633Kfs*2 Frameshift 16/79 - 1
X-32583925-G-C c.1886C>G p.S629* Nonsense 16/79 - 4
X-32583938-G-A c.1873C>T p.Q625* Nonsense 16/79 - 2
X-32583942-G-A c.1869C>T p.L623= Synonymous 16/79 - 1
X-32583942-G-C c.1869C>G p.L623= Synonymous 16/79 - 1
X-32583942-G-T c.1869C>A p.L623= Synonymous 16/79 - 1
X-32583937-TGTTTGAGTGAATACA-T c.1859_1873del p.L620_K624del InFrameDeletion 16/79 - 1
X-32583949-TAC-T c.1860_1861del p.Y621Ffs*13 Frameshift 16/79 - 1
X-32583952-A-C c.1859T>G p.L620R Missense 16/79 - 1
X-32583968-G-A c.1843C>T p.Q615* Nonsense 16/79 - 2
X-32583974-T-A c.1837A>T p.K613* Nonsense 16/79 - 1
X-32583980-C-A c.1831G>T p.E611* Nonsense 16/79 - 1
X-32583980-C-T c.1831G>A p.E611K Missense 16/79 - 1
X-32583988-G-A c.1823C>T p.A608V Missense 16/79 - 1
X-32583994-A-C c.1817T>G p.L606* Nonsense 16/79 - 1
X-32583994-A-T c.1817T>A p.L606* Nonsense 16/79 - 1
X-32587530-G-T c.1813-3532C>A - IntronicSNV - 15/78 1
X-32591643-A-T c.1812+4T>A - IntronicSNV - 15/78 1
X-32591646-C-T c.1812+1G>A - IntronicSNV - 15/78 3
X-32591647-G-A c.1812C>T p.A604= Synonymous 15/79 - 2
X-32591651-AG-CA c.1807_1808delinsTG p.L603W Missense 15/79 - 2
X-32591666-G-C c.1793C>G p.S598* Nonsense 15/79 - 1
X-32591676-C-A c.1783G>T p.E595* Nonsense 15/79 - 1
X-32591682-G-A c.1777C>T p.Q593* Nonsense 15/79 - 1
X-32591696-G-A c.1763C>T p.T588I Missense 15/79 - 1
X-32591699-G-A c.1760C>T p.T587I Missense 15/79 - 1
X-32591703-G-A c.1756C>T p.H586Y Missense 15/79 - 1
X-32591721-C-G c.1738G>C p.D580H Missense 15/79 - 1
X-32591727-T-A c.1732A>T p.K578* Nonsense 15/79 - 1
X-32591730-C-A c.1729G>T p.E577* Nonsense 15/79 - 1
X-32591735-A-G c.1724T>C p.L575P Missense 15/79 - 2
X-32591738-C-T c.1721G>A p.W574* Nonsense 15/79 - 1
X-32591741-G-A c.1718C>T p.A573V Missense 15/79 - 1
X-32591743-ACT-CTC c.1714_1716delinsGAG p.S572E Missense 15/79 - 1
X-32591744-CT-GC c.1714_1715delinsGC p.S572A Missense 15/79 - 1
X-32591745-T-TA c.1713dup p.S572* Nonsense 15/79 - 1
X-32591811-A-G c.1704+51T>C - IntronicSNV - 14/78 2
X-32591860-A-T c.1704+2T>A - IntronicSNV - 14/78 1
X-32591861-C-A c.1704+1G>T - IntronicSNV - 14/78 1
X-32591861-C-T c.1704+1G>A - IntronicSNV - 14/78 2
X-32591864-G-A c.1702C>T p.Q568* Nonsense 14/79 - 1
X-32591867-C-A c.1699G>T p.E567* Nonsense 14/79 - 1
X-32591878-C-T c.1688G>A p.R563H Missense 14/79 - 1
X-32591883-C-T c.1683G>A p.W561* Nonsense 14/79 - 1
X-32591884-C-T c.1682G>A p.W561* Nonsense 14/79 - 1
X-32591893-AG-CA c.1672_1673delinsTG p.L558C Missense 14/79 - 1
X-32591893-AG-A c.1672del p.L558Ffs*25 Frameshift 14/79 - 1
X-32591900-C-T c.1666G>A p.D556N Missense 14/79 - 1
X-32591903-G-A c.1663C>T p.Q555* Nonsense 14/79 - 5
X-32591913-C-T c.1653G>A p.W551* Nonsense 14/79 - 1
X-32591914-C-T c.1652G>A p.W551* Nonsense 14/79 - 3
X-32591928-C-T c.1638G>A p.W546* Nonsense 14/79 - 1
X-32591929-C-T c.1637G>A p.W546* Nonsense 14/79 - 2
X-32591931-T-C c.1635A>G p.R545= Synonymous 14/79 - 3
X-32591931-TCT-ACA c.1633_1635delinsTGT p.R545C Missense 14/79 - 1
X-32591933-T-G c.1633A>C p.R545= Synonymous 14/79 - 1
X-32591950-C-T c.1616G>A p.R539Q Missense 14/79 - 1
X-32591951-G-A c.1615C>T p.R539* Nonsense 14/79 - 8
X-32591963-C-A c.1603G>T p.V535L Missense 14/79 - 1
X-32591963-C-G c.1603G>C p.V535L Missense 14/79 - 1
X-32611687-C-G c.1602+2187G>C - IntronicSNV - 13/78 1
X-32613873-C-T c.1602+1G>A - IntronicSNV - 13/78 1
X-32613882-G-A c.1594C>T p.Q532* Nonsense 13/79 - 5
X-32613882-G-C c.1594C>G p.Q532E Missense 13/79 - 1
X-32613883-TTC-T c.1591_1592del p.E531Tfs*3 Frameshift 13/79 - 1
X-32613885-C-T c.1591G>A p.E531K Missense 13/79 - 1
X-32613889-C-G c.1587G>C p.L529F Missense 13/79 - 1
X-32613922-A-T c.1554T>A p.D518E Missense 13/79 - 1
X-32613944-G-A c.1532C>T p.T511I Missense 13/79 - 1
X-32613939-TGTGA-T c.1533_1536del p.H512Wfs*4 Frameshift 13/79 - 1
X-32613948-G-T c.1528C>A p.L510I Missense 13/79 - 1
X-32613959-CT-TG c.1516_1517delinsCA p.R506Q Missense 13/79 - 1
X-32613965-T-TG c.1510dup p.Q504Pfs*15 Frameshift 13/79 - 1
X-32613966-G-A c.1510C>T p.Q504* Nonsense 13/79 - 2
X-32613972-G-A c.1504C>T p.Q502* Nonsense 13/79 - 1
X-32613987-G-A c.1489C>T p.Q497* Nonsense 13/79 - 1
X-32613991-C-A c.1485G>T p.V495= Synonymous 13/79 - 1
X-32613991-C-G c.1485G>C p.V495= Synonymous 13/79 - 1
X-32613991-C-T c.1485G>A p.V495= Synonymous 13/79 - 1
X-32613993-C-T c.1483G>A p.V495M Missense 13/79 - 1
X-32614060-T-A c.1483-67A>T - IntronicSNV - 12/78 1
X-32614065-A-G c.1483-72T>C - IntronicSNV - 12/78 2
X-32614103-C-T c.1483-110G>A - IntronicSNV - 12/78 1
X-32614454-G-T c.1483-461C>A - IntronicSNV - 12/78 1
X-32622348-T-C c.1483-8355A>G - IntronicSNV - 12/78 1
X-32622348-T-G c.1483-8355A>C - IntronicSNV - 12/78 1
X-32623390-A-C c.1482+9030T>G - IntronicSNV - 12/78 1
X-32632420-C-T c.1482G>A p.K494= Synonymous 12/79 - 1
X-32632428-G-A c.1474C>T p.Q492* Nonsense 12/79 - 1
X-32632437-G-A c.1465C>T p.Q489* Nonsense 12/79 - 1
X-32632451-TC-CT c.1450_1451delinsAG p.E484R Missense 12/79 - 1
X-32632452-C-A c.1450G>T p.E484* Nonsense 12/79 - 1
X-32632452-C-G c.1450G>C p.E484Q Missense 12/79 - 1
X-32632452-C-T c.1450G>A p.E484K Missense 12/79 - 1
X-32632473-C-A c.1429G>T p.E477* Nonsense 12/79 - 1
X-32632479-C-A c.1423G>T p.E475* Nonsense 12/79 - 1
X-32632490-TG-T c.1412del p.T471Kfs*16 Frameshift 12/79 - 1
X-32632494-T-TTC c.1407_1408insGA p.R470Efs*18 Frameshift 12/79 - 1
X-32632506-T-A c.1396A>T p.K466* Nonsense 12/79 - 1
X-32632514-C-T c.1388G>A p.W463* Nonsense 12/79 - 4
X-32632525-C-CT c.1376dup p.L460Vfs*3 Frameshift 12/79 - 1
X-32632527-C-A c.1375G>T p.E459* Nonsense 12/79 - 2
X-32632527-C-CT c.1374dup p.E459Rfs*4 Frameshift 12/79 - 1
X-32632531-CAG-AAA c.1369_1371delinsTTT p.L457F Missense 12/79 - 1
X-32632533-G-GTC c.1368_1369insGA p.L457Dfs*2 Frameshift 12/79 - 1
X-32632535-TTC-T c.1365_1366del p.K456Tfs*6 Frameshift 12/79 - 1
X-32632542-T-G c.1360A>C p.N454H Missense 12/79 - 1
X-32632545-G-A c.1357C>T p.Q453* Nonsense 12/79 - 2
X-32632546-GA-TT c.1355_1356delinsAA p.L452Q Missense 12/79 - 1
X-32632547-A-C c.1355T>G p.L452R Missense 12/79 - 2
X-32632550-T-A c.1352A>T p.D451V Missense 12/79 - 1
X-32632551-C-A c.1351G>T p.D451Y Missense 12/79 - 1
X-32632551-CC-AT c.1350_1351delinsAT p.M450_D451delinsIY MultiAAMissense 12/79 - 1
X-32632552-C-A c.1350G>T p.M450I Missense 12/79 - 2
X-32632552-C-G c.1350G>C p.M450I Missense 12/79 - 2
X-32632552-C-T c.1350G>A p.M450I Missense 12/79 - 2
X-32632556-A-G c.1346T>C p.L449S Missense 12/79 - 1
X-32632564-ATG-A c.1336_1337del p.H446* Frameshift 12/79 - 2
X-32644479-G-C c.1332-11909C>G - IntronicSNV - 11/78 1
X-32648239-GTGTTAATGAAATCTGTCAGCTTTTCTTTGTCTTAGAAAGTCTTCATTTCTCCTTCAAGT-G c.1331+13952_1331+14010del - IntronicDeletion - 11/78 1
X-32662122-C-T c.1331+127G>A - IntronicSNV - 11/78 2
X-32662247-A-G c.1331+2T>C - IntronicSNV - 11/78 1
X-32662248-C-T c.1331+1G>A - IntronicSNV - 11/78 1
X-32662252-C-T c.1328G>A p.S443N Missense 11/79 - 1
X-32662252-C-CT c.1327dup p.S443Kfs*5 Frameshift 11/79 - 1
X-32662256-G-A c.1324C>T p.Q442* Nonsense 11/79 - 1
X-32662259-T-TTTTGCTTTGTTTTTCCATGCTAGCTACCCTGAGGCATTCCCATCTTGAATTTAGGAGATTCATCTGC c.1320_1321insGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAAA p.K441Afs*16 Frameshift 11/79 - 1
X-32662269-A-AGCTTTGCTTTGTTTTTCCATGCTAGCTACCCTGAGGCATTCCCATCTTGAATTTAGGAGATTCATCT c.1310_1311insAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAAAGC p.S438Dfs*15 Frameshift 11/79 - 1
X-32662278-GAG-CCA c.1300_1302delinsTGG p.L434W Missense 11/79 - 1
X-32662278-GAG-TTA c.1300_1302delinsTAA p.L434* Nonsense 11/79 - 1
X-32662288-C-T c.1292G>A p.W431* Nonsense 11/79 - 1
X-32662294-G-C c.1286C>G p.S429* Nonsense 11/79 - 1
X-32662296-AT-A c.1283del p.N428Ifs*9 Frameshift 11/79 - 1
X-32662300-A-G c.1280T>C p.L427P Missense 11/79 - 2
X-32662316-C-A c.1264G>T p.E422* Nonsense 11/79 - 1
X-32662319-G-A c.1261C>T p.Q421* Nonsense 11/79 - 1
X-32662332-T-A c.1248A>T p.E416D Missense 11/79 - 1
X-32662341-TG-AC c.1238_1239delinsGT p.S413C Missense 11/79 - 1
X-32662344-TA-T c.1235del p.L412Yfs*13 Frameshift 11/79 - 1
X-32662349-T-A c.1231A>T p.K411* Nonsense 11/79 - 2
X-32662355-T-A c.1225A>T p.T409S Missense 11/79 - 1
X-32662371-TC-GT c.1208_1209delinsAC p.G403D Missense 11/79 - 1
X-32662373-CC-AT c.1206_1207delinsAT p.G403* Missense 11/79 - 1
X-32662371-TC-T c.1208del p.G403Efs*4 Frameshift 11/79 - 1
X-32662377-T-A c.1203A>T p.Q401H Missense 11/79 - 1
X-32662381-A-AT c.1198_1199insA p.L400Hfs*6 Frameshift 11/79 - 1
X-32662389-ACC-CCA c.1189_1191delinsTGG p.G397W Missense 11/79 - 1
X-32662394-ACCCG-A c.1183_1186del p.R395Lfs*11 Frameshift 11/79 - 1
X-32662396-C-T c.1184G>A p.R395Q Missense 11/79 - 1
X-32662397-G-A c.1183C>T p.R395W Missense 11/79 - 1
X-32662397-G-C c.1183C>G p.R395G Missense 11/79 - 1
X-32662399-C-G c.1181G>C p.G394A Missense 11/79 - 1
X-32662398-GC-G c.1181del p.G394Afs*13 Frameshift 11/79 - 1
X-32662401-C-A c.1179G>T p.Q393H Missense 11/79 - 1
X-32662401-C-G c.1179G>C p.Q393H Missense 11/79 - 1
X-32662409-C-T c.1171G>A p.A391T Missense 11/79 - 1
X-32662417-TC-CG c.1162_1163delinsCG p.D388R Missense 11/79 - 1
X-32662418-C-A c.1162G>T p.D388Y Missense 11/79 - 1
X-32662419-C-T c.1161G>A p.M387I Missense 11/79 - 1
X-32662427-AC-A c.1152del - Frameshift - 10/78 1
X-32662831-G-A c.1149+250C>T - IntronicSNV - 10/78 1
X-32663080-C-T c.1149+1G>A - IntronicSNV - 10/78 1
X-32663098-G-A c.1132C>T p.Q378* Nonsense 10/79 - 1
X-32663121-ATTAGAAATCTCTCCTTGTGCTTGCAATGTGTCCTCAGCAGAAAGAAGCCACGATAATAC-A c.1051_1109del p.V351* InFrameDeletion 10/79 - 1
X-32663121-T-C c.1109A>G p.N370S Missense 10/79 - 3
X-32663130-T-G c.1100A>C p.E367A Missense 10/79 - 1
X-32663137-G-A c.1093C>T p.Q365* Nonsense 10/79 - 2
X-32663143-G-A c.1087C>T p.Q363* Nonsense 10/79 - 1
X-32663158-C-T c.1072G>A p.A358T Missense 10/79 - 1
X-32663168-C-T c.1062G>A p.W354* Nonsense 10/79 - 1
X-32663169-C-T c.1061G>A p.W354* Nonsense 10/79 - 1
X-32663171-C-T c.1059G>A p.S353= Synonymous 10/79 - 1
X-32663186-T-A c.1044A>T p.L348F Missense 10/79 - 1
X-32663186-T-G c.1044A>C p.L348F Missense 10/79 - 1
X-32663189-A-G c.1041T>C p.A347= Synonymous 10/79 - 1
X-32663197-G-A c.1033C>T p.Q345* Nonsense 10/79 - 2
X-32663202-C-T c.1028G>A p.R343H Missense 10/79 - 1
X-32663218-C-A c.1012G>T p.E338* Nonsense 10/79 - 1
X-32663232-G-T c.998C>A p.S333* Nonsense 10/79 - 3
X-32663241-A-C c.989T>G p.F330C Missense 10/79 - 1
X-32663259-G-A c.971C>T p.A324V Missense 10/79 - 1
X-32663262-TC-GA c.967_968inv p.E323S Missense 10/79 - 1
X-32663262-T-TC c.967dup p.E323Gfs*4 Frameshift 10/79 - 1
X-32663267-A-ATTGCTTTGTTTTTCCATGCTAGCTACCCTGAGGCATTCCCATCTTGAATTTAGGAGATTCATCTGCT c.962_963insAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA p.H321Qfs*17 SpliceAcceptorInsertion 10/79 - 1
X-32663417-G-A c.961-148C>T - IntronicSNV - 9/78 1
X-32715991-G-C c.956C>G p.S319* Nonsense 9/79 - 3
X-32715991-G-T c.956C>A p.S319* Nonsense 9/79 - 3
X-32715994-G-A c.953C>T p.P318L Missense 9/79 - 1
X-32716007-G-A c.940C>T p.R314W Missense 9/79 - 1
X-32716015-T-C c.932A>G p.D311G Missense 9/79 - 1
X-32716018-G-C c.929C>G p.S310C Missense 9/79 - 2
X-32716025-T-C c.922A>G p.T308A Missense 9/79 - 1
X-32716039-TG-GC c.907_908delinsGC p.Q303A Missense 9/79 - 1
X-32716040-G-A c.907C>T p.Q303* Nonsense 9/79 - 1
X-32716047-GGC-TAA c.898_900delinsTTA p.A300L MultiAAMissense 9/79 - 1
X-32716053-G-C c.894C>G p.S298R Missense 9/79 - 1
X-32716055-T-C c.892A>G p.S298G Missense 9/79 - 1
X-32716057-T-C c.890A>G p.K297R Missense 9/79 - 1
X-32716064-G-A c.883C>T p.R295* Nonsense 9/79 - 3
X-32716067-G-A c.880C>T p.P294S Missense 9/79 - 1
X-32716075-G-A c.872C>T p.S291F Missense 9/79 - 1
X-32716078-GA-CG c.868_869delinsCG p.S290R Missense 9/79 - 1
X-32716081-G-A c.866C>T p.T289I Missense 9/79 - 1
X-32716087-T-A c.860A>T p.E287V Missense 9/79 - 1
X-32716089-A-C c.858T>G p.Y286* Nonsense 9/79 - 1
X-32716088-CAT-C c.857_858del p.Y286* Frameshift 9/79 - 1
X-32716093-CC-GT c.853_854delinsAC p.G285T Missense 9/79 - 1
X-32716094-C-T c.853G>A p.G285R Missense 9/79 - 1
X-32716102-AGACT-A c.841_844del p.S281* Frameshift 9/79 - 1
X-32716107-G-A c.840C>T p.V280= Synonymous 9/79 - 1
X-32716110-C-A c.837G>T p.T279= Synonymous 9/79 - 2
X-32716110-C-G c.837G>C p.T279= Synonymous 9/79 - 1
X-32716110-C-T c.837G>A p.T279= Synonymous 9/79 - 3
X-32716112-T-C c.835A>G p.T279A Missense 9/79 - 2
X-32716115-T-C c.832A>G p.I278V Missense 9/79 - 1
X-32716132-G-A c.832-17C>T - IntronicSNV - 8/78 1
X-32716132-G-T c.832-17C>A - IntronicSNV - 8/78 1
X-32716133-G-C c.832-18C>G - IntronicSNV - 8/78 1
X-32716763-A-C c.831+466T>G - IntronicSNV - 8/78 1
X-32717228-C-T c.831+1G>A - IntronicSNV - 8/78 2
X-32717231-G-A c.829C>T p.Q277* Nonsense 8/79 - 3
X-32717234-G-A c.826C>T p.Q276* Nonsense 8/79 - 2
X-32717234-G-T c.826C>A p.Q276K Missense 8/79 - 1
X-32717236-G-GA c.823dup p.S275Ffs*13 Frameshift 8/79 - 1
X-32717249-G-A c.811C>T p.Q271* Nonsense 8/79 - 1
X-32717249-G-C c.811C>G p.Q271E Missense 8/79 - 1
X-32717256-GTAA-G c.802_804del p.L268del InFrameDeletion 8/79 - 1
X-32717256-TA-T c.803del p.L268Yfs*15 Frameshift 8/79 - 1
X-32717258-A-C c.802T>G p.L268V Missense 8/79 - 1
X-32717258-A-G c.802T>C p.L268= Synonymous 8/79 - 1
X-32717261-G-A c.799C>T p.Q267* Nonsense 8/79 - 1
X-32717269-T-C c.791A>G p.E264G Missense 8/79 - 1
X-32717270-C-T c.790G>A p.E264K Missense 8/79 - 1
X-32717276-T-TA c.783dup p.K262* Nonsense 8/79 - 1
X-32717296-G-A c.764C>T p.P255L Missense 8/79 - 1
X-32717312-C-A c.748G>T p.E250* Nonsense 8/79 - 1
X-32717315-G-A c.745C>T p.Q249* Nonsense 8/79 - 1
X-32717327-T-C c.733A>G p.I245V Missense 8/79 - 2
X-32717336-G-A c.724C>T p.Q242* Nonsense 8/79 - 4
X-32717344-AA-GC c.715_716delinsGC p.L239A Missense 8/79 - 1
X-32717351-G-T c.709C>A p.Q237K Missense 8/79 - 1
X-32717359-G-C c.701C>G p.S234* Nonsense 8/79 - 1
X-32717362-GT-TG c.697_698delinsCA p.T233Q Missense 8/79 - 1
X-32717364-G-C c.696C>G p.I232M Missense 8/79 - 1
X-32717369-A-T c.691T>A p.Y231N Missense 8/79 - 6
X-32717377-A-T c.683T>A p.I228N Missense 8/79 - 1
X-32717381-ACTT-A c.676_678del p.K226del InFrameDeletion 8/79 - 1
X-32717392-G-T c.668C>A p.P223Q Missense 8/79 - 1
X-32717395-T-G c.665A>C p.Y222S Missense 8/79 - 1
X-32717405-TC-T c.655del p.D219Ifs*11 Frameshift 8/79 - 1
X-32717404-T-TCAGCC c.655_656insGGCTG p.D219Gfs*13 Frameshift 8/79 - 1
X-32717405-C-CA c.654dup p.D219* Nonsense 8/79 - 1
X-32717410-T-A c.650A>T p.D217V Missense 8/79 - 1
X-32756985-T-G c.650-39575A>C - IntronicSNV - 7/78 1
X-32759470-G-A c.650-42060C>T - IntronicSNV - 7/78 3
X-32782229-CAACTAAATGGTTAAAAATTATGTTTAGAGAACAATCTGGAAAATATATACTCACAGACA-C c.649+45323_649+45381del - Unclassified - 7/78 1
X-32789436-A-G c.649+38174T>C - IntronicSNV - 7/78 3
X-32793479-CCCACATTTCCCCCCTGCATTGCCCTAGTAGAGGTTCTCCATGAGGACTCCGCCCCTGCA-C c.649+34073_649+34131del - Unclassified - 7/78 1
X-32808711-TCAGTGATATTTCCCACCCATGGCTGCAACTGCTGGGGCCAAGGCAGGAACCACTGGCAG-T c.649+18840_649+18898del - Unclassified - 7/78 1
X-32811398-GGCAAAAGCAGTGCTAAGGGGGATGTATATAGCAAAAATGCTCACATCAAAAATGTTGAA-G c.649+16154_649+16212del - Unclassified - 7/78 1
X-32822545-T-C c.649+5065A>G - IntronicSNV - 7/78 1
X-32827609-C-A c.649+1G>T - IntronicSNV - 7/78 1
X-32827609-C-CAGATGGAATATCATACTAGGAAGCTGTCCCAAATTCATAGAAATGAATCTTTCAAAAGGAGAGGTGTGAAATTCACT c.649_649+1insAGTGAATTTCACACCTCTCCTTTTGAAAGATTCATTTCTATGAATTTGGGACAGCTTCCTAGTATGATATTCCATCT p.D217Efs*2 SpliceDonorInsertion - - 1
X-32827609-C-T c.649+1G>A - IntronicSNV - 7/78 1
X-32827613-C-T c.646G>A p.E216K Missense 7/79 - 1
X-32827614-AG-A c.644del p.P215Lfs*15 Frameshift 7/79 - 1
X-32827616-G-A c.643C>T p.P215S Missense 7/79 - 1
X-32827619-C-T c.640G>A p.D214N Missense 7/79 - 1
X-32827620-G-T c.639C>A p.L213= Synonymous 7/79 - 1
X-32827626-TTTC-T c.630_632del p.K211del InFrameDeletion 7/79 - 1
X-32827634-AT-A c.625del p.I209* Frameshift 7/79 - 1
X-32827636-C-T c.623G>A p.G208D Missense 7/79 - 1
X-32827639-A-C c.620T>G p.L207* Nonsense 7/79 - 2
X-32827639-A-G c.620T>C p.L207S Missense 7/79 - 1
X-32827639-A-T c.620T>A p.L207* Nonsense 7/79 - 1
X-32827643-G-T c.616C>A p.Q206K Missense 7/79 - 1
X-32827644-A-T c.615T>A p.Y205* Nonsense 7/79 - 2
X-32827659-GA-TT c.599_600delinsAA p.F200* Nonsense 7/79 - 1
X-32827665-A-C c.594T>G p.H198Q Missense 7/79 - 1
X-32827665-A-T c.594T>A p.H198Q Missense 7/79 - 1
X-32827673-G-A c.586C>T p.L196= Synonymous 7/79 - 1
X-32827675-C-T c.584G>A p.R195Q Missense 7/79 - 1
X-32827676-G-A c.583C>T p.R195* Nonsense 7/79 - 14
X-32827679-G-A c.580C>T p.Q194* Nonsense 7/79 - 2
X-32827686-TG-AA c.572_573delinsTT p.S191F Missense 7/79 - 1
X-32827691-G-A c.568C>T p.Q190* Nonsense 7/79 - 1
X-32827694-G-A c.565C>T p.Q189* Nonsense 7/79 - 1
X-32827696-C-G c.563G>C p.C188S Missense 7/79 - 3
X-32827697-A-T c.562T>A p.C188S Missense 7/79 - 3
X-32827707-AT-A c.551del p.N184Ifs*24 Frameshift 7/79 - 1
X-32827710-C-T c.549G>A p.W183* Nonsense 7/79 - 1
X-32828836-T-A c.531-1108A>T - IntronicSNV - 6/78 1
X-32828836-T-C c.531-1108A>G - IntronicSNV - 6/78 1
X-32828836-T-G c.531-1108A>C - IntronicSNV - 6/78 1
X-32834578-T-A c.530+7A>T - IntronicSNV - 6/78 1
X-32834584-C-T c.530+1G>A - IntronicSNV - 6/78 1
X-32834589-G-A c.526C>T p.H176Y Missense 6/79 - 1
X-32834590-A-C c.525T>G p.S175R Missense 6/79 - 1
X-32834590-A-T c.525T>A p.S175R Missense 6/79 - 1
X-32834592-T-G c.523A>C p.S175R Missense 6/79 - 1
X-32834592-T-C c.523A>G p.S175G Missense 6/79 - 1
X-32834600-A-T c.515T>A p.L172H Missense 6/79 - 4
X-32834604-C-G c.511G>C p.A171P Missense 6/79 - 3
X-32834612-G-T c.503C>A p.A168D Missense 6/79 - 7
X-32834618-C-A c.497G>T p.G166V Missense 6/79 - 4
X-32834621-T-A c.494A>T p.D165V Missense 6/79 - 6
X-32834624-GA-CG c.490_491delinsCG p.S164R Missense 6/79 - 1
X-32834626-C-T c.489G>A p.W163* Nonsense 6/79 - 1
X-32834637-T-G c.478A>C p.T160P Missense 6/79 - 2
X-32834642-T-C c.473A>G p.N158S Missense 6/79 - 1
X-32834644-G-T c.471C>A p.I157= Synonymous 6/79 - 1
X-32834658-G-A c.457C>T p.Q153* Nonsense 6/79 - 4
X-32834662-A-T c.453T>A p.Y151* Nonsense 6/79 - 1
X-32834669-C-T c.446G>A p.R149H Missense 6/79 - 1
X-32834675-G-C c.440C>G p.S147* Nonsense 6/79 - 1
X-32834675-G-T c.440C>A p.S147* Nonsense 6/79 - 1
X-32834676-A-C c.439T>G p.S147A Missense 6/79 - 1
X-32834679-G-A c.436C>T p.Q146* Nonsense 6/79 - 1
X-32834681-C-G c.434G>C p.R145P Missense 6/79 - 2
X-32834681-C-T c.434G>A p.R145Q Missense 6/79 - 1
X-32834682-G-A c.433C>T p.R145* Nonsense 6/79 - 9
X-32834684-AC-A c.430del p.V144Sfs*13 Frameshift 6/79 - 1
X-32834688-A-G c.427T>C p.W143R Missense 6/79 - 1
X-32834691-T-A c.424A>T p.S142C Missense 6/79 - 1
X-32834696-A-T c.419T>A p.L140H Missense 6/79 - 1
X-32834700-T-A c.415A>T p.I139F Missense 6/79 - 1
X-32834706-C-A c.409G>T p.E137* Nonsense 6/79 - 1
X-32834706-TC-T c.409del p.E137Kfs*5 Frameshift 6/79 - 1
X-32834708-CT-AG c.406_407inv p.S136L Missense 6/79 - 1
X-32834711-T-C c.404A>G p.N135S Missense 6/79 - 1
X-32834711-TT-AC c.403_404delinsGT p.N135V Missense 6/79 - 1
X-32834718-G-A c.397C>T p.Q133* Nonsense 6/79 - 1
X-32834721-G-A c.394C>T p.Q132* Nonsense 6/79 - 1
X-32834723-A-T c.392T>A p.L131* Nonsense 6/79 - 1
X-32834731-CCAT-C c.382_384del p.M128del InFrameDeletion 6/79 - 1
X-32834741-TTCA-T c.371_373del p.M124del InFrameDeletion 6/79 - 1
X-32834743-TC-T c.372del p.M124Ifs*18 Frameshift 6/79 - 1
X-32834754-T-TG c.360dup p.K121Qfs*17 Frameshift 6/79 - 1
X-32841411-C-T c.357+1G>A - IntronicSNV - 5/78 1
X-32841411-CCTG-C c.355_357del p.Q119del InFrameDeletion 5/79 - 1
X-32841413-T-C c.356A>G p.Q119R Missense 5/79 - 1
X-32841414-G-A c.355C>T p.Q119* Nonsense 5/79 - 4
X-32841417-A-T c.352T>A p.W118R Missense 5/79 - 1
X-32841422-AG-GC c.346_347delinsGC p.L116A Missense 5/79 - 1
X-32841426-T-A c.343A>T p.I115F Missense 5/79 - 1
X-32841433-C-T c.336G>A p.W112* Nonsense 5/79 - 2
X-32841440-A-T c.329T>A p.L110* Nonsense 5/79 - 1
X-32841443-C-A c.326G>T p.G109V Missense 5/79 - 1
X-32841452-A-G c.317T>C p.L106P Missense 5/79 - 1
X-32841463-TC-GT c.305_306delinsAC p.G102D Missense 5/79 - 1
X-32841467-TC-AT c.301_302delinsAT p.D101I Missense 5/79 - 1
X-32841473-AT-TG c.295_296delinsCA p.I99H Missense 5/79 - 1
X-32841475-TG-T c.294del p.D98Efs*3 Frameshift 5/79 - 1
X-32841486-C-G c.283G>C p.G95R Missense 5/79 - 1
X-32841494-AC-TA c.274_275delinsTA p.V92* Nonsense 5/79 - 1
X-32841499-A-C c.270T>G p.D90E Missense 5/79 - 1
X-32841499-A-T c.270T>A p.D90E Missense 5/79 - 1
X-32861305-G-A c.264+1595C>T - IntronicSNV - 4/78 1
X-32862900-CATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTG-C c.206_264del p.T69Sfs*2 InFrameDeletion 4/79 - 2
X-32862901-T-C c.263A>G p.N88S Missense 4/79 - 1
X-32862911-G-A c.253C>T p.Q85* Nonsense 4/79 - 1
X-32862912-C-A c.252G>T p.L84F Missense 4/79 - 2
X-32862912-C-G c.252G>C p.L84F Missense 4/79 - 2
X-32862912-C-CA c.251dup p.L84Ffs*5 Frameshift 4/79 - 2
X-32862919-C-G c.245G>C p.R82P Missense 4/79 - 1
X-32862924-T-A c.240A>T p.A80= Synonymous 4/79 - 1
X-32862924-T-C c.240A>G p.A80= Synonymous 4/79 - 1
X-32862924-T-G c.240A>C p.A80= Synonymous 4/79 - 1
X-32862925-G-T c.239C>A p.A80E Missense 4/79 - 1
X-32862928-T-C c.236A>G p.K79R Missense 4/79 - 1
X-32862929-T-G c.235A>C p.K79Q Missense 4/79 - 1
X-32862935-C-T c.229G>A p.V77I Missense 4/79 - 1
X-32862936-AT-CA c.227_228delinsTG p.N76M Missense 4/79 - 1
X-32862942-C-A c.222G>T p.L74= Synonymous 4/79 - 1
X-32862942-CAG-GAT c.220_222delinsATC p.L74I Missense 4/79 - 1
X-32862942-C-G c.222G>C p.L74= Synonymous 4/79 - 1
X-32862942-C-T c.222G>A p.L74= Synonymous 4/79 - 1
X-32862944-G-A c.220C>T p.L74= Synonymous 4/79 - 1
X-32862943-AG-TA c.220_221delinsTA p.L74* Nonsense 4/79 - 1
X-32862946-G-T c.218C>A p.A73D Missense 4/79 - 1
X-32862950-G-A c.214C>T p.H72Y Missense 4/79 - 1
X-32862957-T-TG c.206dup p.R70Kfs*19 Frameshift 4/79 - 1
X-32862961-G-A c.203C>T p.S68F Missense 4/79 - 1
X-32862969-T-A c.195A>T p.E65D Missense 4/79 - 1
X-32862969-T-G c.195A>C p.E65D Missense 4/79 - 1
X-32862969-TTC-T c.193_194del p.E65Kfs*23 Frameshift 4/79 - 1
X-32862971-C-CT c.192dup p.E65Rfs*24 SpliceAcceptorInsertion 4/79 - 1
X-32867843-A-G c.186+2T>C - IntronicSNV - 3/78 1
X-32867844-C-T c.186+1G>A - IntronicSNV - 3/78 1
X-32867845-CCAG-C c.184_186del p.L62del InFrameDeletion 3/79 - 1
X-32867846-A-AG c.184dup p.L62Pfs*27 Frameshift 3/79 - 1
X-32867849-TT-GC c.181_182delinsGC p.K61A Missense 3/79 - 1
X-32867850-T-C c.181A>G p.K61E Missense 3/79 - 1
X-32867853-G-A c.178C>T p.Q60* Nonsense 3/79 - 3
X-32867855-C-G c.176G>C p.G59A Missense 3/79 - 1
X-32867853-GC-G c.177del p.Q60Kfs*15 Frameshift 3/79 - 1
X-32867856-CCT-C c.174_175del p.G59Afs*29 Frameshift 3/79 - 1
X-32867859-T-C c.172A>G p.T58A Missense 3/79 - 1
X-32867863-GC-CT c.167_168delinsAG p.G56E Missense 3/79 - 1
X-32867867-T-C c.164A>G p.E55G Missense 3/79 - 1
X-32867868-C-A c.163G>T p.E55* Nonsense 3/79 - 1
X-32867870-A-C c.161T>G p.L54R Missense 3/79 - 9
X-32867868-CGAG-C c.160_162del p.L54del InFrameDeletion 3/79 - 2
X-32867873-A-C c.158T>G p.L53R Missense 3/79 - 2
X-32867873-A-T c.158T>A p.L53H Missense 3/79 - 1
X-32867877-C-T c.154G>A p.D52N Missense 3/79 - 1
X-32867879-A-AG c.151dup p.L51Pfs*38 Frameshift 3/79 - 1
X-32867882-A-T c.149T>A p.L50H Missense 3/79 - 1
X-32867884-GCG-TCA c.145_147delinsTGA p.R49* Nonsense 3/79 - 1
X-32867887-CCT-ATG c.142_144delinsCAT p.R48H Missense 3/79 - 1
X-32867887-CCT-GTC c.142_144delinsGAC p.R48D Missense 3/79 - 1
X-32867888-C-G c.143G>C p.R48T Missense 3/79 - 1
X-32867889-T-TC c.141dup p.R48Efs*41 Frameshift 3/79 - 1
X-32867898-G-A c.133C>T p.Q45* Nonsense 3/79 - 3
X-32867899-T-TA c.131dup p.Q45Tfs*44 Frameshift 3/79 - 1
X-32867901-G-A c.130C>T p.L44= Synonymous 3/79 - 1
X-32867900-A-AG c.130dup p.L44Pfs*45 Frameshift 3/79 - 1
X-32867908-GA-TT c.122_123delinsAA p.F41* Nonsense 3/79 - 1
X-32867909-AA-GC c.121_122delinsGC p.F41A Missense 3/79 - 1
X-32867914-G-C c.117C>G p.N39K Missense 3/79 - 1
X-32867914-G-T c.117C>A p.N39K Missense 3/79 - 1
X-32867915-T-C c.116A>G p.N39S Missense 3/79 - 2
X-32867916-T-A c.115A>T p.N39Y Missense 3/79 - 1
X-32867916-T-C c.115A>G p.N39D Missense 3/79 - 1
X-32867915-TTC-T c.114_115del p.N39Pfs*4 Frameshift 3/79 - 1
X-32867922-T-A c.109A>T p.I37F Missense 3/79 - 2
X-32867925-G-C c.106C>G p.H36D Missense 3/79 - 1
X-32867923-ATGC-A c.105_107del p.Q35del InFrameDeletion 3/79 - 1
X-32867928-G-A c.103C>T p.Q35* Nonsense 3/79 - 2
X-32867931-T-A c.100A>T p.K34* Nonsense 3/79 - 1
X-32867932-CCC-GAT c.97_99delinsATC p.G33I Missense 3/79 - 1
X-32867935-AA-TT c.95_96inv p.F32* Nonsense 3/79 - 1
X-32867936-A-G c.95T>C p.F32S Missense 3/79 - 1
X-32867934-CA-C c.96del p.F32Lfs*20 Frameshift 3/79 - 1
X-32869013-G-A c.94-1076C>T - IntronicSNV - 2/78 1
X-32870932-T-C c.94-2995A>G - IntronicSNV - 2/78 1
X-32882032-T-C c.94-14095A>G - IntronicSNV - 2/78 1
X-32917250-C-T c.94-49313G>A - IntronicSNV - 2/78 1
X-32947649-A-T c.94-79712T>A - IntronicSNV - 2/78 3
X-32999608-C-T c.93+38648G>A - IntronicSNV - 2/78 1
X-33032666-A-T c.93+5590T>A - IntronicSNV - 2/78 2
X-33038255-C-G c.93+1G>C - IntronicSNV - 2/78 2
X-33038255-C-T c.93+1G>A - IntronicSNV - 2/78 1
X-33038263-AA-TC c.85_86delinsGA p.F29D Missense 2/79 - 1
X-33038267-G-A c.82C>T p.Q28* Nonsense 2/79 - 1
X-33038268-TGC-ATG c.79_81delinsCAT p.A27H Missense 2/79 - 1
X-33038269-G-A c.80C>T p.A27V Missense 2/79 - 1
X-33038269-GC-TG c.79_80delinsCA p.A27Q Missense 2/79 - 1
X-33038270-C-G c.79G>C p.A27P Missense 2/79 - 2
X-33038270-C-T c.79G>A p.A27T Missense 2/79 - 1
X-33038272-T-C c.77A>G p.N26S Missense 2/79 - 1
X-33038273-T-G c.76A>C p.N26H Missense 2/79 - 2
X-33038277-C-T c.72G>A p.W24* Nonsense 2/79 - 1
X-33038279-A-G c.70T>C p.W24R Missense 2/79 - 1
X-33038281-TT-GC c.67_68delinsGC p.K23A Missense 2/79 - 1
X-33038282-T-A c.67A>T p.K23* Nonsense 2/79 - 1
X-33038290-G-C c.59C>G p.T20R Missense 2/79 - 1
X-33038290-GT-CC c.58_59delinsGG p.T20G Missense 2/79 - 1
X-33038291-T-A c.58A>T p.T20S Missense 2/79 - 1
X-33038290-GT-G c.58del p.T20Hfs*6 Frameshift 2/79 - 1
X-33038295-C-A c.54G>T p.K18N Missense 2/79 - 6
X-33038295-C-G c.54G>C p.K18N Missense 2/79 - 6
X-33038297-T-A c.52A>T p.K18* Nonsense 2/79 - 1
X-33038295-CT-C c.53del p.K18Rfs*8 Frameshift 2/79 - 1
X-33038300-G-A c.49C>T p.Q17* Nonsense 2/79 - 1
X-33038303-C-T c.46G>A p.V16I Missense 2/79 - 1
X-33038305-AT-A c.44del p.D15Vfs*11 Frameshift 2/79 - 1
X-33038305-T-G c.44A>C p.D15A Missense 2/79 - 1
X-33038308-TC-GG c.40_41delinsCC p.E14P Missense 2/79 - 1
X-33038310-CT-C c.39del p.E14Kfs*12 Frameshift 2/79 - 1
X-33038307-TTC-T c.40_41del p.E14Rfs*17 Frameshift 2/79 - 6
X-33038311-C-T c.38G>A p.R13K Missense 2/79 - 1
X-33038311-CT-TC c.37_38delinsGA p.R13E Missense 2/79 - 1
X-33038314-TC-GG c.34_35delinsCC p.E12P Missense 2/79 - 1
X-33038314-T-G c.35A>C p.E12A Missense 2/79 - 1
X-33046344-G-A c.32-8027C>T - IntronicSNV - 1/78 1
X-33074976-T-A c.32-36659A>T - IntronicSNV - 1/78 1
X-33077492-T-C c.32-39175A>G - IntronicSNV - 1/78 1
X-33125527-T-C c.32-87210A>G - IntronicSNV - 1/78 1
X-33146086-A-G c.31+83313T>C - IntronicSNV - 1/78 2
X-33192452-C-T c.31+36947G>A - IntronicSNV - 1/78 3
X-33199451-C-T c.31+29948G>A - IntronicSNV - 1/78 1
X-33228600-T-C c.31+799A>G - IntronicSNV - 1/78 1
X-33229338-G-C c.31+61C>G - IntronicSNV - 1/78 1
X-33229398-C-T c.31+1G>A - IntronicSNV - 1/78 1
X-33229399-A-G c.31T>C p.Y11H Missense 1/79 - 1
X-33229398-CA-C c.31del p.Y11Mfs*15 Frameshift 1/79 - 2
X-33229401-C-G c.29G>C p.C10S Missense 1/79 - 2
X-33229402-A-T c.28T>A p.C10S Missense 1/79 - 2
X-33229403-G-A c.27C>T p.D9= Synonymous 1/79 - 1
X-33229406-C-G c.24G>C p.E8D Missense 1/79 - 1
X-33229408-C-A c.22G>T p.E8* Nonsense 1/79 - 1
X-33229411-C-T c.19G>A p.V7I Missense 1/79 - 1
X-33229413-T-A c.17A>T p.E6V Missense 1/79 - 2
X-33229414-C-T c.16G>A p.E6K Missense 1/79 - 1
X-33229414-CT-C c.15del p.E6Kfs*2 Frameshift 1/79 - 1
X-33229418-C-T c.12G>A p.W4* Nonsense 1/79 - 1
X-33229419-C-T c.11G>A p.W4* Nonsense 1/79 - 2
X-33229421-C-A c.9G>T p.W3C Missense 1/79 - 1
X-33229421-C-T c.9G>A p.W3* Nonsense 1/79 - 14
X-33229422-C-T c.8G>A p.W3* Nonsense 1/79 - 3
X-33229424-A-C c.6T>G p.L2= Synonymous 1/79 - 2
X-33229424-A-G c.6T>C p.L2= Synonymous 1/79 - 1
X-33229424-A-T c.6T>A p.L2= Synonymous 1/79 - 1
X-33229427-C-T c.3G>A p.M1? Missense 1/79 - 1