4-140587125-A-T |
c.-49A>T |
- |
5-UTRSNV |
1/5 |
- |
5 |
4-140587175-T-C |
c.2T>C |
p.M1? |
Missense |
1/5 |
- |
1 |
4-140587177-G-T |
c.4G>T |
p.A2S |
Missense |
1/5 |
- |
1 |
4-140587178-C-A |
c.5C>A |
p.A2D |
Missense |
1/5 |
- |
1 |
4-140587188-G-A |
c.15G>A |
p.S5= |
Synonymous |
1/5 |
- |
1 |
4-140587188-G-C |
c.15G>C |
p.S5= |
Synonymous |
1/5 |
- |
1 |
4-140587188-G-T |
c.15G>T |
p.S5= |
Synonymous |
1/5 |
- |
1 |
4-140587202-C-T |
c.29C>T |
p.A10V |
Missense |
1/5 |
- |
1 |
4-140587207-TC-CT |
c.34_35delinsCT |
p.S12L |
Missense |
1/5 |
- |
1 |
4-140587210-A-G |
c.37A>G |
p.I13V |
Missense |
1/5 |
- |
1 |
4-140587217-C-T |
c.44C>T |
p.S15L |
Missense |
1/5 |
- |
1 |
4-140587220-C-G |
c.47C>G |
p.A16G |
Missense |
1/5 |
- |
1 |
4-140587234-AAG-A |
c.58+6_58+7del |
- |
IntronicDeletion |
- |
1/4 |
1 |
4-140587259-TGC-T |
c.58+32_58+33del |
- |
IntronicDeletion |
- |
1/4 |
3 |
4-140587263-C-A |
c.58+32C>A |
- |
IntronicSNV |
- |
1/4 |
3 |
4-140587263-C-G |
c.58+32C>G |
- |
IntronicSNV |
- |
1/4 |
3 |
4-140587263-C-T |
c.58+32C>T |
- |
IntronicSNV |
- |
1/4 |
3 |
4-140587267-T-TGTGTGCGCGCGC |
c.58+39_58+40insTGCGCGCGCGTG |
- |
IntronicInsertion |
- |
1/4 |
1 |
4-140587267-T-TGTGTGCGCGCGCGC |
c.58+39_58+40insTGCGCGCGCGCGTG |
- |
IntronicInsertion |
- |
1/4 |
1 |
4-140587267-T-TGTGTGTGCGCGC |
c.58+39_58+40insTGTGCGCGCGTG |
- |
IntronicInsertion |
- |
1/4 |
1 |
4-140587269-T-TGTGCGC |
c.58+39_58+40insTGCGCG |
- |
IntronicInsertion |
- |
1/4 |
3 |
4-140587269-T-TGTGCGCGC |
c.58+39_58+40insTGCGCGCG |
- |
IntronicInsertion |
- |
1/4 |
3 |
4-140587269-T-TGTGCGCGCGC |
c.58+39_58+40insTGCGCGCGCG |
- |
IntronicInsertion |
- |
1/4 |
3 |
4-140587269-T-TGTGCGCGCGCGC |
c.58+39_58+40insTGCGCGCGCGCG |
- |
IntronicInsertion |
- |
1/4 |
3 |
4-140587269-T-TGTGCGCGCGCGCGC |
c.58+39_58+40insTGCGCGCGCGCGCG |
- |
IntronicInsertion |
- |
1/4 |
3 |
4-140587269-T-TGTGCGCGCGCGCGCGC |
c.58+39_58+40insTGCGCGCGCGCGCGCG |
- |
IntronicInsertion |
- |
1/4 |
3 |
4-140587269-T-TGTGTGCGCGCGC |
c.58+39_58+40insTGTGCGCGCGCG |
- |
IntronicInsertion |
- |
1/4 |
3 |
4-140587271-C-T |
c.58+40C>T |
- |
IntronicSNV |
- |
1/4 |
2 |
4-140587271-GCGTGT-G |
c.58+40_58+44del |
- |
IntronicDeletion |
- |
1/4 |
3 |
4-140587271-C-CGCGCGCGCGCGT |
c.58+41_58+42insCGCGCGCGCGTG |
- |
IntronicInsertion |
- |
1/4 |
2 |
4-140587271-C-CGCGCGCGCGT |
c.58+41_58+42insCGCGCGCGTG |
- |
IntronicInsertion |
- |
1/4 |
2 |
4-140587271-C-CGCGCGCGCGTGT |
c.58+41_58+42insCGCGCGCGTGTG |
- |
IntronicInsertion |
- |
1/4 |
2 |
4-140587271-C-CGCGCGCGCGTGTGT |
c.58+41_58+42insCGCGCGCGTGTGTG |
- |
IntronicInsertion |
- |
1/4 |
2 |
4-140587271-C-CGCGCGCGT |
c.58+41_58+42insCGCGCGTG |
- |
IntronicInsertion |
- |
1/4 |
2 |
4-140587271-C-CGCGCGCGTGT |
c.58+41_58+42insCGCGCGTGTG |
- |
IntronicInsertion |
- |
1/4 |
2 |
4-140587271-C-CGCGCGCGTGTGT |
c.58+41_58+42insCGCGCGTGTGTG |
- |
IntronicInsertion |
- |
1/4 |
2 |
4-140587275-T-TGTG |
c.58+45_58+47dup |
- |
IntronicInsertion |
- |
1/4 |
1 |
4-140587277-T-C |
c.58+46T>C |
- |
IntronicSNV |
- |
1/4 |
1 |
4-140587414-A-C |
c.58+183A>C |
- |
IntronicSNV |
- |
1/4 |
1 |
4-140587499-A-G |
c.58+268A>G |
- |
IntronicSNV |
- |
1/4 |
1 |
4-140587985-G-A |
c.58+754G>A |
- |
IntronicSNV |
- |
1/4 |
1 |
4-140589100-C-T |
c.58+1869C>T |
- |
IntronicSNV |
- |
1/4 |
1 |
4-140589777-A-G |
c.58+2546A>G |
- |
IntronicSNV |
- |
1/4 |
1 |
4-140599710-G-T |
c.72G>T |
p.L24F |
Missense |
2/5 |
- |
1 |
4-140599715-T-C |
c.77T>C |
p.V26A |
Missense |
2/5 |
- |
6 |
4-140599718-G-A |
c.80G>A |
p.G27E |
Missense |
2/5 |
- |
2 |
4-140599723-GCA-AAC |
c.85_87delinsAAC |
p.A29N |
Missense |
2/5 |
- |
1 |
4-140599723-GCA-ATG |
c.85_87delinsATG |
p.A29M |
Missense |
2/5 |
- |
1 |
4-140599723-GC-AG |
c.85_86delinsAG |
p.A29R |
Missense |
2/5 |
- |
1 |
4-140599723-G-T |
c.85G>T |
p.A29S |
Missense |
2/5 |
- |
2 |
4-140599724-C-A |
c.86C>A |
p.A29E |
Missense |
2/5 |
- |
1 |
4-140599724-CA-AC |
c.86_87delinsAC |
p.A29D |
Missense |
2/5 |
- |
2 |
4-140599724-C-G |
c.86C>G |
p.A29G |
Missense |
2/5 |
- |
1 |
4-140599724-C-T |
c.86C>T |
p.A29V |
Missense |
2/5 |
- |
2 |
4-140599735-T-C |
c.97T>C |
p.Y33H |
Missense |
2/5 |
- |
1 |
4-140599736-A-G |
c.98A>G |
p.Y33C |
Missense |
2/5 |
- |
1 |
4-140599741-G-T |
c.103G>T |
p.V35F |
Missense |
2/5 |
- |
1 |
4-140599746-G-A |
c.108G>A |
p.T36= |
Synonymous |
2/5 |
- |
1 |
4-140599749-C-A |
c.111C>A |
p.P37= |
Synonymous |
2/5 |
- |
1 |
4-140599749-C-G |
c.111C>G |
p.P37= |
Synonymous |
2/5 |
- |
1 |
4-140599749-C-T |
c.111C>T |
p.P37= |
Synonymous |
2/5 |
- |
1 |
4-140599751-C-T |
c.113C>T |
p.P38L |
Missense |
2/5 |
- |
1 |
4-140599756-G-A |
c.118G>A |
p.V40I |
Missense |
2/5 |
- |
2 |
4-140599768-C-A |
c.130C>A |
p.P44T |
Missense |
2/5 |
- |
1 |
4-140599773-G-A |
c.135G>A |
p.E45= |
Synonymous |
2/5 |
- |
2 |
4-140599781-G-A |
c.143G>A |
p.R48K |
Missense |
2/5 |
- |
1 |
4-140599781-G-C |
c.143G>C |
p.R48T |
Missense |
2/5 |
- |
1 |
4-140599787-T-A |
c.149T>A |
p.F50Y |
Missense |
2/5 |
- |
1 |
4-140599789-CG-AA |
c.151_152delinsAA |
p.R51K |
Missense |
2/5 |
- |
1 |
4-140599789-CG-GC |
c.151_152delinsGC |
p.R51A |
Missense |
2/5 |
- |
2 |
4-140599789-C-T |
c.151C>T |
p.R51W |
Missense |
2/5 |
- |
2 |
4-140599790-G-A |
c.152G>A |
p.R51Q |
Missense |
2/5 |
- |
2 |
4-140602753-C-T |
c.158+2957C>T |
- |
IntronicSNV |
- |
2/4 |
1 |
4-140606425-G-A |
c.158+6629G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
4-140606447-G-T |
c.158+6651G>T |
- |
IntronicSNV |
- |
2/4 |
1 |
4-140609325-A-C |
c.159-7026A>C |
- |
IntronicSNV |
- |
2/4 |
1 |
4-140609325-A-G |
c.159-7026A>G |
- |
IntronicSNV |
- |
2/4 |
1 |
4-140616352-C-T |
c.160C>T |
p.Q54* |
Nonsense |
3/5 |
- |
1 |
4-140616360-T-C |
c.168T>C |
p.C56= |
Synonymous |
3/5 |
- |
1 |
4-140616365-A-C |
c.173A>C |
p.E58A |
Missense |
3/5 |
- |
1 |
4-140616371-A-G |
c.179A>G |
p.Y60C |
Missense |
3/5 |
- |
1 |
4-140616377-T-C |
c.185T>C |
p.I62T |
Missense |
3/5 |
- |
4 |
4-140616381-C-T |
c.189C>T |
p.F63= |
Synonymous |
3/5 |
- |
1 |
4-140616389-C-T |
c.197C>T |
p.T66I |
Missense |
3/5 |
- |
2 |
4-140616396-G-C |
c.204G>C |
p.W68C |
Missense |
3/5 |
- |
1 |
4-140616396-G-T |
c.204G>T |
p.W68C |
Missense |
3/5 |
- |
1 |
4-140616397-A-G |
c.205A>G |
p.M69V |
Missense |
3/5 |
- |
2 |
4-140616399-G-T |
c.207G>T |
p.M69I |
Missense |
3/5 |
- |
1 |
4-140616406-TGG-ATC |
c.214_216delinsATC |
p.W72I |
Missense |
3/5 |
- |
1 |
4-140616406-TG-GC |
c.214_215delinsGC |
p.W72A |
Missense |
3/5 |
- |
1 |
4-140616410-A-G |
c.218A>G |
p.Y73C |
Missense |
3/5 |
- |
1 |
4-140616422-G-A |
c.229+1G>A |
- |
IntronicSNV |
- |
3/4 |
1 |
4-140616423-T-C |
c.229+2T>C |
- |
IntronicSNV |
- |
3/4 |
1 |
4-140616462-G-A |
c.229+41G>A |
- |
IntronicSNV |
- |
3/4 |
8 |
4-140616462-G-C |
c.229+41G>C |
- |
IntronicSNV |
- |
3/4 |
6 |
4-140616510-TCA-T |
c.229+93_229+94del |
- |
IntronicDeletion |
- |
3/4 |
1 |
4-140616983-A-C |
c.229+562A>C |
- |
IntronicSNV |
- |
3/4 |
1 |
4-140619295-T-C |
c.229+2874T>C |
- |
IntronicSNV |
- |
3/4 |
1 |
4-140619321-T-G |
c.229+2900T>G |
- |
IntronicSNV |
- |
3/4 |
1 |
4-140619323-T-C |
c.229+2902T>C |
- |
IntronicSNV |
- |
3/4 |
1 |
4-140619337-G-A |
c.229+2916G>A |
- |
IntronicSNV |
- |
3/4 |
1 |
4-140619395-A-G |
c.229+2974A>G |
- |
IntronicSNV |
- |
3/4 |
1 |
4-140619530-T-C |
c.229+3109T>C |
- |
IntronicSNV |
- |
3/4 |
1 |
4-140619978-C-CT |
c.229+3569dup |
- |
IntronicInsertion |
- |
3/4 |
1 |
4-140624612-T-C |
c.233T>C |
p.F78S |
Missense |
4/5 |
- |
1 |
4-140624616-T-A |
c.237T>A |
p.A79= |
Synonymous |
4/5 |
- |
1 |
4-140624645-G-A |
c.266G>A |
p.G89D |
Missense |
4/5 |
- |
1 |
4-140624647-C-T |
c.268C>T |
p.R90C |
Missense |
4/5 |
- |
4 |
4-140624648-G-A |
c.269G>A |
p.R90H |
Missense |
4/5 |
- |
2 |
4-140624656-T-C |
c.277T>C |
p.Y93H |
Missense |
4/5 |
- |
10 |
4-140624663-G-A |
c.284G>A |
p.W95* |
Nonsense |
4/5 |
- |
2 |
4-140624664-G-A |
c.285G>A |
p.W95* |
Nonsense |
4/5 |
- |
2 |
4-140624669-A-T |
c.290A>T |
p.Y97F |
Missense |
4/5 |
- |
1 |
4-140624670-T-A |
c.291T>A |
p.Y97* |
Nonsense |
4/5 |
- |
2 |
4-140624670-T-G |
c.291T>G |
p.Y97* |
Nonsense |
4/5 |
- |
1 |
4-140624677-G-A |
c.298G>A |
p.A100T |
Missense |
4/5 |
- |
1 |
4-140624681-C-T |
c.302C>T |
p.A101V |
Missense |
4/5 |
- |
3 |
4-140624683-A-C |
c.304A>C |
p.K102Q |
Missense |
4/5 |
- |
1 |
4-140624682-TA-T |
c.309del |
p.K103Nfs*8 |
Frameshift |
4/5 |
- |
5 |
4-140624689-CG-AA |
c.310_311delinsAA |
p.R104K |
Missense |
4/5 |
- |
2 |
4-140624689-CG-AC |
c.310_311delinsAC |
p.R104T |
Missense |
4/5 |
- |
1 |
4-140624689-CG-GC |
c.310_311delinsGC |
p.R104A |
Missense |
4/5 |
- |
2 |
4-140624689-C-T |
c.310C>T |
p.R104W |
Missense |
4/5 |
- |
1 |
4-140624690-G-C |
c.311G>C |
p.R104P |
Missense |
4/5 |
- |
1 |
4-140624691-G-A |
c.311+1G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
4-140624758-TCTC-T |
c.311+71_311+73del |
- |
IntronicDeletion |
- |
4/4 |
1 |
4-140625139-G-A |
c.312-31G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
4-140625171-A-G |
c.313A>G |
p.I105V |
Missense |
5/5 |
- |
2 |
4-140625175-C-G |
c.317C>G |
p.T106S |
Missense |
5/5 |
- |
1 |
4-140625176-C-A |
c.318C>A |
p.T106= |
Synonymous |
5/5 |
- |
1 |
4-140625176-C-G |
c.318C>G |
p.T106= |
Synonymous |
5/5 |
- |
1 |
4-140625176-C-T |
c.318C>T |
p.T106= |
Synonymous |
5/5 |
- |
1 |
4-140625177-G-A |
c.319G>A |
p.G107S |
Missense |
5/5 |
- |
1 |
4-140625177-G-C |
c.319G>C |
p.G107R |
Missense |
5/5 |
- |
1 |
4-140625177-G-T |
c.319G>T |
p.G107C |
Missense |
5/5 |
- |
1 |
4-140625183-C-T |
c.325C>T |
p.R109* |
Nonsense |
5/5 |
- |
6 |
4-140625186-C-T |
c.328C>T |
p.L110= |
Synonymous |
5/5 |
- |
2 |
4-140625194-G-A |
c.336G>A |
p.L112= |
Synonymous |
5/5 |
- |
1 |
4-140625196-G-A |
c.338G>A |
p.G113E |
Missense |
5/5 |
- |
2 |
4-140625197-G-A |
c.339G>A |
p.G113= |
Synonymous |
5/5 |
- |
1 |
4-140625216-CT-TG |
c.358_359delinsTG |
p.L120C |
Missense |
5/5 |
- |
1 |
4-140625217-T-A |
c.359T>A |
p.L120H |
Missense |
5/5 |
- |
1 |
4-140625218-C-A |
c.360C>A |
p.L120= |
Synonymous |
5/5 |
- |
1 |
4-140625225-G-A |
c.367G>A |
p.A123T |
Missense |
5/5 |
- |
1 |
4-140625227-C-T |
c.369C>T |
p.A123= |
Synonymous |
5/5 |
- |
3 |
4-140625244-G-A |
c.386G>A |
p.S129N |
Missense |
5/5 |
- |
2 |
4-140625245-C-T |
c.387C>T |
p.S129= |
Synonymous |
5/5 |
- |
1 |
4-140625252-G-A |
c.394G>A |
p.D132N |
Missense |
5/5 |
- |
4 |
4-140625259-A-G |
c.401A>G |
p.Y134C |
Missense |
5/5 |
- |
1 |
4-140625261-C-A |
c.403C>A |
p.L135M |
Missense |
5/5 |
- |
1 |
4-140625270-A-G |
c.412A>G |
p.N138D |
Missense |
5/5 |
- |
1 |
4-140625270-A-T |
c.412A>T |
p.N138Y |
Missense |
5/5 |
- |
6 |
4-140625281-G-C |
c.423G>C |
p.K141N |
Missense |
5/5 |
- |
1 |
4-140625281-G-T |
c.423G>T |
p.K141N |
Missense |
5/5 |
- |
1 |
4-140625292-G-A |
c.434G>A |
p.R145Q |
Missense |
5/5 |
- |
1 |
4-140625293-G-A |
c.435G>A |
p.R145= |
Synonymous |
5/5 |
- |
1 |
4-140625323-A-G |
c.*21A>G |
- |
3-UTRSNV |
5/5 |
- |
13 |
4-140625323-A-T |
c.*21A>T |
- |
3-UTRSNV |
5/5 |
- |
13 |