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 |