6-31926969-G-A |
c.-1G>A |
- |
5-UTRSNV |
1/28 |
- |
1 |
6-31926969-G-C |
c.-1G>C |
- |
5-UTRSNV |
1/28 |
- |
1 |
6-31926970-A-G |
c.1A>G |
p.M1? |
Missense |
1/28 |
- |
1 |
6-31926971-T-C |
c.2T>C |
p.M1? |
Missense |
1/28 |
- |
1 |
6-31926974-T-C |
c.5T>C |
p.M2T |
Missense |
1/28 |
- |
1 |
6-31926974-T-G |
c.5T>G |
p.M2R |
Missense |
1/28 |
- |
2 |
6-31926975-G-A |
c.6G>A |
p.M2I |
Missense |
1/28 |
- |
1 |
6-31926976-G-A |
c.7G>A |
p.E3K |
Missense |
1/28 |
- |
2 |
6-31926980-C-T |
c.11C>T |
p.T4I |
Missense |
1/28 |
- |
1 |
6-31926981-A-C |
c.12A>C |
p.T4= |
Synonymous |
1/28 |
- |
1 |
6-31926981-A-G |
c.12A>G |
p.T4= |
Synonymous |
1/28 |
- |
1 |
6-31926981-A-T |
c.12A>T |
p.T4= |
Synonymous |
1/28 |
- |
1 |
6-31926980-CAG-C |
c.14_15del |
p.E5Afs*37 |
Frameshift |
1/28 |
- |
1 |
6-31926985-C-A |
c.16C>A |
p.R6= |
Synonymous |
1/28 |
- |
1 |
6-31926985-CGA-TGT |
c.16_18delinsTGT |
p.R6C |
Missense |
1/28 |
- |
1 |
6-31926987-A-C |
c.18A>C |
p.R6= |
Synonymous |
1/28 |
- |
1 |
6-31926987-A-G |
c.18A>G |
p.R6= |
Synonymous |
1/28 |
- |
1 |
6-31926987-A-T |
c.18A>T |
p.R6= |
Synonymous |
1/28 |
- |
1 |
6-31926986-G-A |
c.17G>A |
p.R6Q |
Missense |
1/28 |
- |
1 |
6-31927000-G-A |
c.22+9G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
6-31927080-C-G |
c.29C>G |
p.P10R |
Missense |
2/28 |
- |
1 |
6-31927080-C-T |
c.29C>T |
p.P10L |
Missense |
2/28 |
- |
1 |
6-31927082-C-A |
c.31C>A |
p.P11T |
Missense |
2/28 |
- |
2 |
6-31927082-C-G |
c.31C>G |
p.P11A |
Missense |
2/28 |
- |
1 |
6-31927082-C-T |
c.31C>T |
p.P11S |
Missense |
2/28 |
- |
1 |
6-31927078-A-AC |
c.32dup |
p.P12Sfs*31 |
Frameshift |
2/28 |
- |
1 |
6-31927085-C-T |
c.34C>T |
p.P12S |
Missense |
2/28 |
- |
1 |
6-31927087-A-C |
c.36A>C |
p.P12= |
Synonymous |
2/28 |
- |
1 |
6-31927091-C-G |
c.40C>G |
p.P14A |
Missense |
2/28 |
- |
1 |
6-31927091-C-T |
c.40C>T |
p.P14S |
Missense |
2/28 |
- |
4 |
6-31927092-C-T |
c.41C>T |
p.P14L |
Missense |
2/28 |
- |
1 |
6-31927099-CC-AG |
c.48_49delinsAG |
p.D16_L17delinsEV |
MultiAAMissense |
2/28 |
- |
1 |
6-31927100-C-T |
c.49C>T |
p.L17= |
Synonymous |
2/28 |
- |
2 |
6-31927105-C-A |
c.54C>A |
p.P18= |
Synonymous |
2/28 |
- |
1 |
6-31927105-C-G |
c.54C>G |
p.P18= |
Synonymous |
2/28 |
- |
1 |
6-31927105-C-T |
c.54C>T |
p.P18= |
Synonymous |
2/28 |
- |
2 |
6-31927106-C-T |
c.55C>T |
p.L19F |
Missense |
2/28 |
- |
1 |
6-31927109-C-A |
c.58C>A |
p.R20= |
Synonymous |
2/28 |
- |
1 |
6-31927109-C-T |
c.58C>T |
p.R20W |
Missense |
2/28 |
- |
4 |
6-31927111-G-A |
c.60G>A |
p.R20= |
Synonymous |
2/28 |
- |
1 |
6-31927111-G-C |
c.60G>C |
p.R20= |
Synonymous |
2/28 |
- |
1 |
6-31927111-G-T |
c.60G>T |
p.R20= |
Synonymous |
2/28 |
- |
1 |
6-31927110-GG-AT |
c.59_60delinsAT |
p.R20H |
Missense |
2/28 |
- |
1 |
6-31927110-G-T |
c.59G>T |
p.R20L |
Missense |
2/28 |
- |
1 |
6-31927114-C-A |
c.63C>A |
p.A21= |
Synonymous |
2/28 |
- |
3 |
6-31927114-C-G |
c.63C>G |
p.A21= |
Synonymous |
2/28 |
- |
3 |
6-31927114-C-T |
c.63C>T |
p.A21= |
Synonymous |
2/28 |
- |
3 |
6-31927116-T-C |
c.65T>C |
p.V22A |
Missense |
2/28 |
- |
3 |
6-31927124-G-A |
c.73G>A |
p.G25R |
Missense |
2/28 |
- |
2 |
6-31927128-G-A |
c.77G>A |
p.C26Y |
Missense |
2/28 |
- |
1 |
6-31927129-C-T |
c.78C>T |
p.C26= |
Synonymous |
2/28 |
- |
1 |
6-31927133-G-A |
c.82G>A |
p.G28R |
Missense |
2/28 |
- |
1 |
6-31927135-G-A |
c.84G>A |
p.G28= |
Synonymous |
2/28 |
- |
1 |
6-31927135-G-C |
c.84G>C |
p.G28= |
Synonymous |
2/28 |
- |
1 |
6-31927135-G-T |
c.84G>T |
p.G28= |
Synonymous |
2/28 |
- |
2 |
6-31927137-A-G |
c.86A>G |
p.H29R |
Missense |
2/28 |
- |
1 |
6-31927141-G-C |
c.90G>C |
p.W30C |
Missense |
2/28 |
- |
1 |
6-31927141-G-T |
c.90G>T |
p.W30C |
Missense |
2/28 |
- |
1 |
6-31927142-G-A |
c.91G>A |
p.E31K |
Missense |
2/28 |
- |
1 |
6-31927146-T-A |
c.95T>A |
p.L32Q |
Missense |
2/28 |
- |
3 |
6-31927146-T-C |
c.95T>C |
p.L32P |
Missense |
2/28 |
- |
1 |
6-31927152-A-G |
c.101A>G |
p.N34S |
Missense |
2/28 |
- |
1 |
6-31927154-T-G |
c.103T>G |
p.L35V |
Missense |
2/28 |
- |
1 |
6-31927154-TT-GC |
c.103_104delinsGC |
p.L35A |
Missense |
2/28 |
- |
1 |
6-31927158-CT-AA |
c.107_108delinsAA |
p.P36Q |
Missense |
2/28 |
- |
1 |
6-31927161-G-A |
c.110G>A |
p.G37E |
Missense |
2/28 |
- |
1 |
6-31927163-G-A |
c.112G>A |
p.A38T |
Missense |
2/28 |
- |
1 |
6-31927164-C-G |
c.113C>G |
p.A38G |
Missense |
2/28 |
- |
1 |
6-31927169-G-A |
c.118G>A |
p.E40K |
Missense |
2/28 |
- |
1 |
6-31927169-G-C |
c.118G>C |
p.E40Q |
Missense |
2/28 |
- |
1 |
6-31927170-A-G |
c.119A>G |
p.E40G |
Missense |
2/28 |
- |
1 |
6-31927171-G-A |
c.120G>A |
p.E40= |
Synonymous |
2/28 |
- |
1 |
6-31927171-G-C |
c.120G>C |
p.E40D |
Missense |
2/28 |
- |
1 |
6-31927171-G-T |
c.120G>T |
p.E40D |
Missense |
2/28 |
- |
1 |
6-31927174-T-G |
c.123T>G |
p.S41R |
Missense |
2/28 |
- |
1 |
6-31927176-G-A |
c.125G>A |
p.S42N |
Missense |
2/28 |
- |
6 |
6-31927209-G-A |
c.126+32G>A |
- |
IntronicSNV |
- |
2/27 |
1 |
6-31927342-A-G |
c.126+165A>G |
- |
IntronicSNV |
- |
2/27 |
6 |
6-31927342-A-T |
c.126+165A>T |
- |
IntronicSNV |
- |
2/27 |
6 |
6-31927787-C-A |
c.127C>A |
p.L43I |
Missense |
3/28 |
- |
1 |
6-31927787-C-T |
c.127C>T |
p.L43F |
Missense |
3/28 |
- |
1 |
6-31927792-C-T |
c.132C>T |
p.P44= |
Synonymous |
3/28 |
- |
1 |
6-31927793-C-T |
c.133C>T |
p.H45Y |
Missense |
3/28 |
- |
2 |
6-31927797-G-A |
c.137G>A |
p.G46D |
Missense |
3/28 |
- |
1 |
6-31927797-G-C |
c.137G>C |
p.G46A |
Missense |
3/28 |
- |
1 |
6-31927806-C-T |
c.146C>T |
p.P49L |
Missense |
3/28 |
- |
6 |
6-31927810-T-C |
c.150T>C |
p.C50= |
Synonymous |
3/28 |
- |
1 |
6-31927811-G-A |
c.151G>A |
p.A51T |
Missense |
3/28 |
- |
1 |
6-31927811-GC-AA |
c.151_152delinsAA |
p.A51N |
Missense |
3/28 |
- |
1 |
6-31927817-G-A |
c.157G>A |
p.D53N |
Missense |
3/28 |
- |
1 |
6-31927823-C-A |
c.163C>A |
p.Q55K |
Missense |
3/28 |
- |
1 |
6-31927823-C-T |
c.163C>T |
p.Q55* |
Nonsense |
3/28 |
- |
1 |
6-31927829-G-A |
c.169G>A |
p.E57K |
Missense |
3/28 |
- |
3 |
6-31927829-G-C |
c.169G>C |
p.E57Q |
Missense |
3/28 |
- |
1 |
6-31927830-A-T |
c.170A>T |
p.E57V |
Missense |
3/28 |
- |
1 |
6-31927831-A-C |
c.171A>C |
p.E57D |
Missense |
3/28 |
- |
1 |
6-31927831-A-T |
c.171A>T |
p.E57D |
Missense |
3/28 |
- |
1 |
6-31927833-C-T |
c.173C>T |
p.A58V |
Missense |
3/28 |
- |
1 |
6-31927834-A-C |
c.174A>C |
p.A58= |
Synonymous |
3/28 |
- |
1 |
6-31927834-A-G |
c.174A>G |
p.A58= |
Synonymous |
3/28 |
- |
1 |
6-31927834-A-T |
c.174A>T |
p.A58= |
Synonymous |
3/28 |
- |
1 |
6-31927835-G-C |
c.175G>C |
p.E59Q |
Missense |
3/28 |
- |
1 |
6-31927839-A-G |
c.179A>G |
p.Q60R |
Missense |
3/28 |
- |
3 |
6-31927840-G-A |
c.180G>A |
p.Q60Q |
UnclassifiedSNV |
3/28 |
- |
2 |
6-31927841-T-G |
c.181T>G |
p.L61V |
Missense |
3/28 |
- |
1 |
6-31927847-C-T |
c.187C>T |
p.L63= |
Synonymous |
3/28 |
- |
1 |
6-31927851-C-A |
c.191C>A |
p.S64* |
Nonsense |
3/28 |
- |
1 |
6-31927853-TC-CG |
c.193_194delinsCG |
p.S65R |
Missense |
3/28 |
- |
1 |
6-31927854-C-T |
c.194C>T |
p.S65F |
Missense |
3/28 |
- |
2 |
6-31927853-TC-T |
c.197del |
p.P66Qfs*99 |
Frameshift |
3/28 |
- |
2 |
6-31927857-C-T |
c.197C>T |
p.P66L |
Missense |
3/28 |
- |
2 |
6-31927860-C-T |
c.200C>T |
p.A67V |
Missense |
3/28 |
- |
1 |
6-31927861-C-A |
c.201C>A |
p.A67= |
Synonymous |
3/28 |
- |
1 |
6-31927861-C-G |
c.201C>G |
p.A67= |
Synonymous |
3/28 |
- |
1 |
6-31927861-C-T |
c.201C>T |
p.A67= |
Synonymous |
3/28 |
- |
1 |
6-31927862-T-A |
c.202T>A |
p.W68R |
Missense |
3/28 |
- |
4 |
6-31927863-G-A |
c.203G>A |
p.W68* |
Nonsense |
3/28 |
- |
2 |
6-31927864-G-A |
c.204G>A |
p.W68* |
Nonsense |
3/28 |
- |
3 |
6-31927865-C-G |
c.205C>G |
p.L69V |
Missense |
3/28 |
- |
1 |
6-31927866-T-C |
c.206T>C |
p.L69P |
Missense |
3/28 |
- |
1 |
6-31927868-C-A |
c.208C>A |
p.P70T |
Missense |
3/28 |
- |
1 |
6-31927872-T-A |
c.212T>A |
p.L71Q |
UnclassifiedSNV |
3/28 |
- |
2 |
6-31927882-G-A |
c.222G>A |
p.V74= |
Synonymous |
3/28 |
- |
1 |
6-31927886-C-T |
c.226C>T |
p.H76Y |
Missense |
3/28 |
- |
1 |
6-31927890-C-T |
c.230C>T |
p.S77L |
Missense |
3/28 |
- |
1 |
6-31927893-C-T |
c.233C>T |
p.A78V |
Missense |
3/28 |
- |
1 |
6-31927895-C-T |
c.235C>T |
p.R79* |
Nonsense |
3/28 |
- |
3 |
6-31927896-G-A |
c.236G>A |
p.R79Q |
Missense |
3/28 |
- |
3 |
6-31927895-CGGTGAGGAGTCTGGAGGGGCTTAGACTAGGGTGATGGGTTCCTGAAGGAAGCTGGGACA-C |
c.236+1_237-42del |
- |
SpliceDonorDeletion |
- |
3/27 |
1 |
6-31928000-A-C |
c.240A>C |
p.K80N |
Missense |
4/28 |
- |
1 |
6-31928000-A-T |
c.240A>T |
p.K80N |
Missense |
4/28 |
- |
1 |
6-31928006-G-A |
c.246G>A |
p.Q82= |
Synonymous |
4/28 |
- |
1 |
6-31928007-AG-CC |
c.247_248delinsCC |
p.R83P |
Missense |
4/28 |
- |
1 |
6-31928014-C-T |
c.254C>T |
p.T85M |
Missense |
4/28 |
- |
15 |
6-31928016-G-A |
c.256G>A |
p.D86N |
Missense |
4/28 |
- |
2 |
6-31928018-T-G |
c.258T>G |
p.D86E |
Missense |
4/28 |
- |
1 |
6-31928019-C-A |
c.259C>A |
p.P87T |
Missense |
4/28 |
- |
1 |
6-31928020-C-T |
c.260C>T |
p.P87L |
Missense |
4/28 |
- |
1 |
6-31928023-G-T |
c.263G>T |
p.W88L |
Missense |
4/28 |
- |
1 |
6-31928034-G-T |
c.274G>T |
p.A92S |
Missense |
4/28 |
- |
1 |
6-31928037-G-A |
c.277G>A |
p.V93I |
Missense |
4/28 |
- |
1 |
6-31928039-C-G |
c.279C>G |
p.V93= |
Synonymous |
4/28 |
- |
2 |
6-31928039-C-T |
c.279C>T |
p.V93= |
Synonymous |
4/28 |
- |
1 |
6-31928041-T-G |
c.281T>G |
p.L94R |
Missense |
4/28 |
- |
1 |
6-31928044-G-A |
c.284G>A |
p.G95E |
Missense |
4/28 |
- |
1 |
6-31928044-G-C |
c.284G>C |
p.G95A |
Missense |
4/28 |
- |
1 |
6-31928047-C-G |
c.287C>G |
p.A96G |
Missense |
4/28 |
- |
1 |
6-31928048-CC-TT |
c.288_289delinsTT |
p.P97S |
Missense |
4/28 |
- |
1 |
6-31928049-C-A |
c.289C>A |
p.P97T |
Missense |
4/28 |
- |
1 |
6-31928049-C-T |
c.289C>T |
p.P97S |
Missense |
4/28 |
- |
4 |
6-31928052-G-T |
c.292G>T |
p.V98F |
Missense |
4/28 |
- |
1 |
6-31928058-T-A |
c.298T>A |
p.S100T |
Missense |
4/28 |
- |
1 |
6-31928058-TC-AA |
c.298_299delinsAA |
p.S100N |
Missense |
4/28 |
- |
1 |
6-31928058-T-G |
c.298T>G |
p.S100A |
Missense |
4/28 |
- |
1 |
6-31928060-C-A |
c.300C>A |
p.S100= |
Synonymous |
4/28 |
- |
1 |
6-31928061-G-A |
c.301G>A |
p.D101N |
Missense |
4/28 |
- |
4 |
6-31928064-C-G |
c.304C>G |
p.L102V |
Missense |
4/28 |
- |
1 |
6-31928064-C-T |
c.304C>T |
p.L102= |
Synonymous |
4/28 |
- |
1 |
6-31928065-T-A |
c.305T>A |
p.L102Q |
Missense |
4/28 |
- |
1 |
6-31928066-A-G |
c.306A>G |
p.L102= |
Synonymous |
4/28 |
- |
1 |
6-31928067-C-G |
c.307C>G |
p.Q103E |
Missense |
4/28 |
- |
1 |
6-31928068-A-G |
c.308A>G |
p.Q103R |
Missense |
4/28 |
- |
5 |
6-31928072-C-A |
c.312C>A |
p.A104= |
Synonymous |
4/28 |
- |
1 |
6-31928072-C-G |
c.312C>G |
p.A104= |
Synonymous |
4/28 |
- |
1 |
6-31928072-C-T |
c.312C>T |
p.A104= |
Synonymous |
4/28 |
- |
1 |
6-31928073-C-A |
c.313C>A |
p.Q105K |
Missense |
4/28 |
- |
2 |
6-31928073-C-T |
c.313C>T |
p.Q105* |
Nonsense |
4/28 |
- |
1 |
6-31928076-AG-CT |
c.316_317inv |
p.R106L |
Missense |
4/28 |
- |
1 |
6-31928082-C-A |
c.322C>A |
p.P108T |
Missense |
4/28 |
- |
1 |
6-31928084-A-C |
c.324A>C |
p.P108= |
Synonymous |
4/28 |
- |
1 |
6-31928084-A-G |
c.324A>G |
p.P108= |
Synonymous |
4/28 |
- |
1 |
6-31928084-A-T |
c.324A>T |
p.P108= |
Synonymous |
4/28 |
- |
1 |
6-31928088-ACA-TGT |
c.328_330inv |
p.T110C |
Missense |
4/28 |
- |
1 |
6-31928102-GG-TT |
c.342_343delinsTT |
p.G115C |
Missense |
4/28 |
- |
1 |
6-31928103-G-T |
c.343G>T |
p.G115C |
Missense |
4/28 |
- |
1 |
6-31928104-G-A |
c.344G>A |
p.G115D |
Missense |
4/28 |
- |
1 |
6-31928104-G-T |
c.344G>T |
p.G115V |
Missense |
4/28 |
- |
1 |
6-31928106-T-C |
c.346T>C |
p.Y116H |
Missense |
4/28 |
- |
3 |
6-31928107-A-G |
c.347A>G |
p.Y116C |
Missense |
4/28 |
- |
2 |
6-31928112-G-A |
c.352G>A |
p.E118K |
Missense |
4/28 |
- |
1 |
6-31928112-G-T |
c.352G>T |
p.E118* |
Nonsense |
4/28 |
- |
1 |
6-31928119-G-A |
c.354+5G>A |
- |
IntronicSNV |
- |
4/27 |
2 |
6-31928209-G-A |
c.355G>A |
p.V119I |
Missense |
5/28 |
- |
1 |
6-31928212-T-C |
c.358T>C |
p.L120= |
Synonymous |
5/28 |
- |
1 |
6-31928216-T-C |
c.362T>C |
p.L121P |
Missense |
5/28 |
- |
2 |
6-31928215-C-T |
c.361C>T |
p.L121= |
Synonymous |
5/28 |
- |
1 |
6-31928217-G-A |
c.363G>A |
p.L121= |
Synonymous |
5/28 |
- |
1 |
6-31928217-G-C |
c.363G>C |
p.L121= |
Synonymous |
5/28 |
- |
1 |
6-31928217-G-T |
c.363G>T |
p.L121= |
Synonymous |
5/28 |
- |
1 |
6-31928218-G-A |
c.364G>A |
p.E122K |
Missense |
5/28 |
- |
1 |
6-31928218-G-C |
c.364G>C |
p.E122Q |
Missense |
5/28 |
- |
1 |
6-31928220-G-C |
c.366G>C |
p.E122D |
Missense |
5/28 |
- |
1 |
6-31928220-G-T |
c.366G>T |
p.E122D |
Missense |
5/28 |
- |
3 |
6-31928225-CA-TG |
c.371_372inv |
p.T124M |
Missense |
5/28 |
- |
1 |
6-31928225-C-G |
c.371C>G |
p.T124R |
Missense |
5/28 |
- |
1 |
6-31928225-C-T |
c.371C>T |
p.T124I |
Missense |
5/28 |
- |
1 |
6-31928226-A-T |
c.372A>T |
p.T124= |
Synonymous |
5/28 |
- |
1 |
6-31928228-A-G |
c.374A>G |
p.N125S |
Missense |
5/28 |
- |
1 |
6-31928230-C-G |
c.376C>G |
p.L126V |
Missense |
5/28 |
- |
1 |
6-31928230-C-T |
c.376C>T |
p.L126F |
Missense |
5/28 |
- |
1 |
6-31928232-C-G |
c.378C>G |
p.L126= |
Synonymous |
5/28 |
- |
1 |
6-31928232-C-T |
c.378C>T |
p.L126= |
Synonymous |
5/28 |
- |
1 |
6-31928234-C-T |
c.380C>T |
p.S127L |
Missense |
5/28 |
- |
8 |
6-31928238-T-C |
c.384T>C |
p.A128= |
Synonymous |
5/28 |
- |
3 |
6-31928238-T-G |
c.384T>G |
p.A128= |
Synonymous |
5/28 |
- |
2 |
6-31928239-A-T |
c.385A>T |
p.T129S |
Missense |
5/28 |
- |
1 |
6-31928240-C-T |
c.386C>T |
p.T129I |
Missense |
5/28 |
- |
1 |
6-31928242-A-G |
c.388A>G |
p.T130A |
Missense |
5/28 |
- |
1 |
6-31928242-A-T |
c.388A>T |
p.T130S |
Missense |
5/28 |
- |
1 |
6-31928243-C-G |
c.389C>G |
p.T130S |
Missense |
5/28 |
- |
1 |
6-31928245-T-G |
c.391T>G |
p.S131A |
Missense |
5/28 |
- |
3 |
6-31928246-C-G |
c.392C>G |
p.S131C |
Missense |
5/28 |
- |
1 |
6-31928246-C-T |
c.392C>T |
p.S131F |
Missense |
5/28 |
- |
5 |
6-31928248-T-C |
c.394T>C |
p.L132= |
Synonymous |
5/28 |
- |
1 |
6-31928248-TT-CC |
c.394_395delinsCC |
p.L132P |
Missense |
5/28 |
- |
1 |
6-31928250-G-A |
c.396G>A |
p.L132= |
Synonymous |
5/28 |
- |
1 |
6-31928252-C-T |
c.398C>T |
p.S133F |
Missense |
5/28 |
- |
1 |
6-31928254-C-G |
c.400C>G |
p.L134V |
Missense |
5/28 |
- |
3 |
6-31928255-T-A |
c.401T>A |
p.L134H |
Missense |
5/28 |
- |
4 |
6-31928256-T-A |
c.402T>A |
p.L134= |
Synonymous |
5/28 |
- |
1 |
6-31928256-T-C |
c.402T>C |
p.L134= |
Synonymous |
5/28 |
- |
1 |
6-31928256-T-G |
c.402T>G |
p.L134= |
Synonymous |
5/28 |
- |
1 |
6-31928264-C-T |
c.410C>T |
p.P137L |
Missense |
5/28 |
- |
1 |
6-31928266-C-T |
c.412C>T |
p.P138S |
Missense |
5/28 |
- |
1 |
6-31928267-C-G |
c.413C>G |
p.P138R |
Missense |
5/28 |
- |
1 |
6-31928267-C-T |
c.413C>T |
p.P138L |
Missense |
5/28 |
- |
2 |
6-31928268-A-AG |
c.417dup |
p.P140Afs*22 |
Frameshift |
5/28 |
- |
1 |
6-31928273-C-A |
c.419C>A |
p.P140Q |
Missense |
5/28 |
- |
1 |
6-31928275-G-A |
c.421G>A |
p.A141T |
Missense |
5/28 |
- |
1 |
6-31928276-C-T |
c.422C>T |
p.A141V |
Missense |
5/28 |
- |
3 |
6-31928279-C-T |
c.425C>T |
p.S142F |
Missense |
5/28 |
- |
5 |
6-31928281-C-A |
c.427C>A |
p.Q143K |
Missense |
5/28 |
- |
2 |
6-31928288-T-C |
c.434T>C |
p.L145S |
Missense |
5/28 |
- |
1 |
6-31928290-T-A |
c.436T>A |
p.W146R |
Missense |
5/28 |
- |
1 |
6-31928290-T-C |
c.436T>C |
p.W146R |
Missense |
5/28 |
- |
1 |
6-31928294-G-T |
c.440G>T |
p.G147V |
Missense |
5/28 |
- |
1 |
6-31928300-C-T |
c.446C>T |
p.P149L |
Missense |
5/28 |
- |
2 |
6-31928305-C-A |
c.451C>A |
p.Q151K |
Missense |
5/28 |
- |
1 |
6-31928306-A-G |
c.452A>G |
p.Q151R |
Missense |
5/28 |
- |
32 |
6-31928307-G-A |
c.453G>A |
p.Q151= |
Synonymous |
5/28 |
- |
3 |
6-31928310-T-C |
c.456T>C |
p.Y152= |
Synonymous |
5/28 |
- |
1 |
6-31928311-C-T |
c.457C>T |
p.P153S |
Missense |
5/28 |
- |
5 |
6-31928317-T-C |
c.463T>C |
p.W155R |
Missense |
5/28 |
- |
1 |
6-31928320-C-G |
c.466C>G |
p.P156A |
Missense |
5/28 |
- |
1 |
6-31928321-C-T |
c.467C>T |
p.P156L |
Missense |
5/28 |
- |
1 |
6-31928447-G-A |
c.474G>A |
p.G158= |
Synonymous |
6/28 |
- |
1 |
6-31928448-A-G |
c.475A>G |
p.M159V |
Missense |
6/28 |
- |
2 |
6-31928450-G-A |
c.477G>A |
p.M159I |
Missense |
6/28 |
- |
1 |
6-31928450-G-C |
c.477G>C |
p.M159I |
Missense |
6/28 |
- |
1 |
6-31928450-G-T |
c.477G>T |
p.M159I |
Missense |
6/28 |
- |
2 |
6-31928452-A-C |
c.479A>C |
p.D160A |
Missense |
6/28 |
- |
1 |
6-31928454-G-C |
c.481G>C |
p.E161Q |
Missense |
6/28 |
- |
1 |
6-31928456-A-G |
c.483A>G |
p.E161= |
Synonymous |
6/28 |
- |
1 |
6-31928456-A-T |
c.483A>T |
p.E161D |
Missense |
6/28 |
- |
1 |
6-31928457-C-T |
c.484C>T |
p.P162S |
Missense |
6/28 |
- |
5 |
6-31928461-C-T |
c.488C>T |
p.T163I |
Missense |
6/28 |
- |
1 |
6-31928466-A-G |
c.493A>G |
p.T165A |
Missense |
6/28 |
- |
2 |
6-31928469-G-A |
c.496G>A |
p.D166N |
Missense |
6/28 |
- |
1 |
6-31928469-G-T |
c.496G>T |
p.D166Y |
Missense |
6/28 |
- |
1 |
6-31928472-C-A |
c.499C>A |
p.L167M |
Missense |
6/28 |
- |
1 |
6-31928479-C-T |
c.506C>T |
p.T169I |
Missense |
6/28 |
- |
1 |
6-31928481-C-T |
c.508C>T |
p.R170W |
Missense |
6/28 |
- |
2 |
6-31928482-G-T |
c.509G>T |
p.R170L |
Missense |
6/28 |
- |
1 |
6-31928484-G-A |
c.511G>A |
p.E171K |
Missense |
6/28 |
- |
2 |
6-31928485-A-G |
c.512A>G |
p.E171G |
Missense |
6/28 |
- |
1 |
6-31928488-A-G |
c.515A>G |
p.E172G |
Missense |
6/28 |
- |
1 |
6-31928496-G-A |
c.523G>A |
p.E175K |
Missense |
6/28 |
- |
1 |
6-31928498-G-C |
c.525G>C |
p.E175D |
Missense |
6/28 |
- |
2 |
6-31928498-G-T |
c.525G>T |
p.E175D |
Missense |
6/28 |
- |
2 |
6-31928499-G-A |
c.526G>A |
p.E176K |
Missense |
6/28 |
- |
1 |
6-31928500-A-G |
c.527A>G |
p.E176G |
Missense |
6/28 |
- |
1 |
6-31928503-T-C |
c.530T>C |
p.I177T |
Missense |
6/28 |
- |
1 |
6-31928508-T-C |
c.535T>C |
p.F179L |
Missense |
6/28 |
- |
1 |
6-31928508-T-G |
c.535T>G |
p.F179V |
Missense |
6/28 |
- |
1 |
6-31928513-G-T |
c.540G>T |
p.E180D |
Missense |
6/28 |
- |
1 |
6-31928516-A-T |
c.543A>T |
p.K181N |
Missense |
6/28 |
- |
1 |
6-31928664-A-G |
c.544+147A>G |
- |
IntronicSNV |
- |
6/27 |
1 |
6-31928691-G-A |
c.545-127G>A |
- |
IntronicSNV |
- |
6/27 |
5 |
6-31928799-T-A |
c.545-19T>A |
- |
IntronicSNV |
- |
6/27 |
22 |
6-31928799-T-C |
c.545-19T>C |
- |
IntronicSNV |
- |
6/27 |
22 |
6-31928820-C-A |
c.547C>A |
p.L183I |
Missense |
7/28 |
- |
1 |
6-31928820-C-G |
c.547C>G |
p.L183V |
Missense |
7/28 |
- |
5 |
6-31928820-C-T |
c.547C>T |
p.L183F |
Missense |
7/28 |
- |
1 |
6-31928821-T-C |
c.548T>C |
p.L183P |
Missense |
7/28 |
- |
1 |
6-31928818-ATCT-A |
c.550_552del |
p.L184del |
InFrameDeletion |
7/28 |
- |
1 |
6-31928823-C-G |
c.550C>G |
p.L184V |
Missense |
7/28 |
- |
1 |
6-31928823-C-T |
c.550C>T |
p.L184F |
Missense |
7/28 |
- |
1 |
6-31928825-T-A |
c.552T>A |
p.L184= |
Synonymous |
7/28 |
- |
1 |
6-31928825-T-C |
c.552T>C |
p.L184= |
Synonymous |
7/28 |
- |
1 |
6-31928825-T-G |
c.552T>G |
p.L184= |
Synonymous |
7/28 |
- |
1 |
6-31928827-C-A |
c.554C>A |
p.T185N |
Missense |
7/28 |
- |
1 |
6-31928827-CT-TG |
c.554_555delinsTG |
p.T185M |
Missense |
7/28 |
- |
1 |
6-31928839-G-C |
c.566G>C |
p.G189A |
Missense |
7/28 |
- |
1 |
6-31928840-T-A |
c.567T>A |
p.G189= |
Synonymous |
7/28 |
- |
1 |
6-31928840-T-C |
c.567T>C |
p.G189= |
Synonymous |
7/28 |
- |
1 |
6-31928840-T-G |
c.567T>G |
p.G189= |
Synonymous |
7/28 |
- |
1 |
6-31928846-G-C |
c.573G>C |
p.K191N |
Missense |
7/28 |
- |
1 |
6-31928846-G-T |
c.573G>T |
p.K191N |
Missense |
7/28 |
- |
1 |
6-31928848-A-G |
c.575A>G |
p.K192R |
Missense |
7/28 |
- |
1 |
6-31928851-G-T |
c.578G>T |
p.G193V |
Missense |
7/28 |
- |
1 |
6-31928855-G-A |
c.582G>A |
p.M194I |
Missense |
7/28 |
- |
1 |
6-31928856-G-T |
c.583G>T |
p.D195Y |
Missense |
7/28 |
- |
1 |
6-31928857-A-G |
c.584A>G |
p.D195G |
Missense |
7/28 |
- |
1 |
6-31928858-C-A |
c.585C>A |
p.D195E |
Missense |
7/28 |
- |
1 |
6-31928858-C-G |
c.585C>G |
p.D195E |
Missense |
7/28 |
- |
1 |
6-31928858-C-T |
c.585C>T |
p.D195= |
Synonymous |
7/28 |
- |
1 |
6-31928860-T-C |
c.587T>C |
p.F196S |
Missense |
7/28 |
- |
1 |
6-31928861-T-C |
c.588T>C |
p.F196= |
Synonymous |
7/28 |
- |
1 |
6-31928863-C-G |
c.590C>G |
p.A197G |
Missense |
7/28 |
- |
1 |
6-31928863-C-T |
c.590C>T |
p.A197V |
Missense |
7/28 |
- |
1 |
6-31928866-C-A |
c.593C>A |
p.P198Q |
Missense |
7/28 |
- |
2 |
6-31928867-A-G |
c.594A>G |
p.P198= |
Synonymous |
7/28 |
- |
1 |
6-31928871-G-A |
c.598G>A |
p.D200N |
Missense |
7/28 |
- |
1 |
6-31928979-C-T |
c.605C>T |
p.P202L |
Missense |
8/28 |
- |
1 |
6-31928981-A-C |
c.607A>C |
p.T203P |
Missense |
8/28 |
- |
1 |
6-31928981-A-G |
c.607A>G |
p.T203A |
Missense |
8/28 |
- |
1 |
6-31928985-C-T |
c.611C>T |
p.P204L |
Missense |
8/28 |
- |
1 |
6-31928987-G-A |
c.613G>A |
p.A205T |
Missense |
8/28 |
- |
2 |
6-31928987-G-C |
c.613G>C |
p.A205P |
Missense |
8/28 |
- |
1 |
6-31928989-T-A |
c.615T>A |
p.A205= |
Synonymous |
8/28 |
- |
2 |
6-31928989-T-C |
c.615T>C |
p.A205= |
Synonymous |
8/28 |
- |
2 |
6-31928989-T-G |
c.615T>G |
p.A205= |
Synonymous |
8/28 |
- |
2 |
6-31928994-G-A |
c.620G>A |
p.G207E |
Missense |
8/28 |
- |
1 |
6-31928994-G-T |
c.620G>T |
p.G207V |
Missense |
8/28 |
- |
1 |
6-31928995-A-C |
c.621A>C |
p.G207= |
Synonymous |
8/28 |
- |
1 |
6-31928995-A-G |
c.621A>G |
p.G207= |
Synonymous |
8/28 |
- |
1 |
6-31928995-A-T |
c.621A>T |
p.G207= |
Synonymous |
8/28 |
- |
1 |
6-31928996-C-T |
c.622C>T |
p.L208= |
Synonymous |
8/28 |
- |
3 |
6-31928997-T-C |
c.623T>C |
p.L208P |
Missense |
8/28 |
- |
1 |
6-31928998-A-C |
c.624A>C |
p.L208= |
Synonymous |
8/28 |
- |
2 |
6-31928998-A-G |
c.624A>G |
p.L208= |
Synonymous |
8/28 |
- |
2 |
6-31928998-A-T |
c.624A>T |
p.L208= |
Synonymous |
8/28 |
- |
2 |
6-31929005-C-T |
c.631C>T |
p.L211F |
Missense |
8/28 |
- |
1 |
6-31929008-AG-TT |
c.634_635delinsTT |
p.S212F |
Missense |
8/28 |
- |
1 |
6-31929011-T-C |
c.637T>C |
p.C213R |
Missense |
8/28 |
- |
1 |
6-31929014-A-C |
c.640A>C |
p.M214L |
Missense |
8/28 |
- |
42 |
6-31929014-A-T |
c.640A>T |
p.M214L |
Missense |
8/28 |
- |
4 |
6-31929020-G-A |
c.646G>A |
p.E216K |
Missense |
8/28 |
- |
1 |
6-31929022-G-C |
c.648G>C |
p.E216D |
Missense |
8/28 |
- |
1 |
6-31929032-TTG-ATC |
c.658_660delinsATC |
p.L220I |
Missense |
8/28 |
- |
1 |
6-31929033-T-C |
c.659T>C |
p.L220S |
Missense |
8/28 |
- |
1 |
6-31929038-G-A |
c.664G>A |
p.G222R |
Missense |
8/28 |
- |
2 |
6-31929041-G-A |
c.667G>A |
p.G223S |
Missense |
8/28 |
- |
1 |
6-31929042-GT-AG |
c.668_669delinsAG |
p.G223E |
Missense |
8/28 |
- |
1 |
6-31929046-C-T |
c.672C>T |
p.D224= |
Synonymous |
8/28 |
- |
1 |
6-31929047-G-A |
c.673G>A |
p.E225K |
Missense |
8/28 |
- |
1 |
6-31929050-G-A |
c.676G>A |
p.D226N |
Missense |
8/28 |
- |
1 |
6-31929050-G-C |
c.676G>C |
p.D226H |
Missense |
8/28 |
- |
2 |
6-31929053-G-C |
c.679G>C |
p.E227Q |
Missense |
8/28 |
- |
1 |
6-31929054-A-T |
c.680A>T |
p.E227V |
Missense |
8/28 |
- |
1 |
6-31929055-G-GT |
c.681_682insT |
p.N228* |
Nonsense |
8/28 |
- |
1 |
6-31929057-A-G |
c.683A>G |
p.N228S |
Missense |
8/28 |
- |
1 |
6-31929066-GT-G |
c.692del |
p.V231Gfs*30 |
Frameshift |
8/28 |
- |
1 |
6-31929067-G-T |
c.693G>T |
p.V231= |
Synonymous |
8/28 |
- |
1 |
6-31929066-TG-T |
c.695del |
p.G232Dfs*29 |
Frameshift |
8/28 |
- |
1 |
6-31929069-G-A |
c.695G>A |
p.G232E |
Missense |
8/28 |
- |
2 |
6-31929075-C-T |
c.701C>T |
p.P234L |
Missense |
8/28 |
- |
3 |
6-31929077-G-A |
c.703G>A |
p.G235R |
Missense |
8/28 |
- |
2 |
6-31929077-G-C |
c.703G>C |
p.G235R |
Missense |
8/28 |
- |
2 |
6-31929078-G-C |
c.704G>C |
p.G235A |
Missense |
8/28 |
- |
1 |
6-31929080-G-A |
c.706G>A |
p.G236S |
Missense |
8/28 |
- |
1 |
6-31929080-GG-AC |
c.706_707delinsAC |
p.G236T |
Missense |
8/28 |
- |
1 |
6-31929083-C-A |
c.709C>A |
p.P237T |
Missense |
8/28 |
- |
1 |
6-31929083-C-T |
c.709C>T |
p.P237S |
Missense |
8/28 |
- |
1 |
6-31929084-C-T |
c.710C>T |
p.P237L |
Missense |
8/28 |
- |
1 |
6-31929085-C-A |
c.711C>A |
p.P237= |
Synonymous |
8/28 |
- |
2 |
6-31929085-C-G |
c.711C>G |
p.P237= |
Synonymous |
8/28 |
- |
2 |
6-31929085-C-T |
c.711C>T |
p.P237= |
Synonymous |
8/28 |
- |
2 |
6-31929090-G-C |
c.716G>C |
p.G239A |
Missense |
8/28 |
- |
1 |
6-31929090-G-T |
c.716G>T |
p.G239V |
Missense |
8/28 |
- |
1 |
6-31929091-G-A |
c.717G>A |
p.G239= |
Synonymous |
8/28 |
- |
1 |
6-31929091-G-C |
c.717G>C |
p.G239= |
Synonymous |
8/28 |
- |
1 |
6-31929091-G-T |
c.717G>T |
p.G239= |
Synonymous |
8/28 |
- |
1 |
6-31929092-G-A |
c.718G>A |
p.D240N |
Missense |
8/28 |
- |
1 |
6-31929102-C-T |
c.728C>T |
p.S243L |
Missense |
8/28 |
- |
2 |
6-31929104-G-T |
c.730G>T |
p.A244S |
Missense |
8/28 |
- |
1 |
6-31929105-C-G |
c.731C>G |
p.A244G |
Missense |
8/28 |
- |
1 |
6-31929109-T-A |
c.735T>A |
p.S245= |
Synonymous |
8/28 |
- |
1 |
6-31929109-T-C |
c.735T>C |
p.S245= |
Synonymous |
8/28 |
- |
1 |
6-31929109-T-G |
c.735T>G |
p.S245= |
Synonymous |
8/28 |
- |
1 |
6-31929110-C-T |
c.736C>T |
p.P246S |
Missense |
8/28 |
- |
6 |
6-31929112-C-T |
c.738C>T |
p.P246= |
Synonymous |
8/28 |
- |
1 |
6-31929113-T-G |
c.739T>G |
p.C247G |
Missense |
8/28 |
- |
1 |
6-31929114-G-A |
c.740G>A |
p.C247Y |
Missense |
8/28 |
- |
1 |
6-31929115-C-G |
c.741C>G |
p.C247W |
Missense |
8/28 |
- |
4 |
6-31929122-C-T |
c.748C>T |
p.P250S |
Missense |
8/28 |
- |
6 |
6-31929123-C-T |
c.749C>T |
p.P250L |
Missense |
8/28 |
- |
2 |
6-31929124-C-T |
c.750C>T |
p.P250= |
Synonymous |
8/28 |
- |
1 |
6-31929131-C-T |
c.757C>T |
p.R253* |
Nonsense |
8/28 |
- |
1 |
6-31929132-G-A |
c.758G>A |
p.R253Q |
Missense |
8/28 |
- |
1 |
6-31929137-AG-GC |
c.763_764delinsGC |
p.S255A |
Missense |
8/28 |
- |
1 |
6-31929139-C-G |
c.765C>G |
p.S255R |
Missense |
8/28 |
- |
1 |
6-31929140-AGC-TGA |
c.766_768delinsTGA |
p.S256* |
Nonsense |
8/28 |
- |
1 |
6-31929140-AG-GC |
c.766_767delinsGC |
p.S256A |
Missense |
8/28 |
- |
1 |
6-31929142-C-T |
c.768C>T |
p.S256= |
Synonymous |
8/28 |
- |
2 |
6-31929144-T-A |
c.770T>A |
p.L257* |
Nonsense |
8/28 |
- |
1 |
6-31929146-G-A |
c.772G>A |
p.E258K |
Missense |
8/28 |
- |
1 |
6-31929148-A-G |
c.774A>G |
p.E258= |
Synonymous |
8/28 |
- |
4 |
6-31929149-G-C |
c.775G>C |
p.D259H |
Missense |
8/28 |
- |
1 |
6-31929151-C-A |
c.777C>A |
p.D259E |
Missense |
8/28 |
- |
1 |
6-31929152-C-G |
c.778C>G |
p.L260V |
Missense |
8/28 |
- |
1 |
6-31929153-T-C |
c.779T>C |
p.L260P |
Missense |
8/28 |
- |
1 |
6-31929325-A-T |
c.791A>T |
p.E264V |
Missense |
9/28 |
- |
2 |
6-31929327-G-A |
c.793G>A |
p.A265T |
Missense |
9/28 |
- |
2 |
6-31929328-C-T |
c.794C>T |
p.A265V |
Missense |
9/28 |
- |
2 |
6-31929329-G-A |
c.795G>A |
p.A265= |
Synonymous |
9/28 |
- |
3 |
6-31929329-G-C |
c.795G>C |
p.A265= |
Synonymous |
9/28 |
- |
3 |
6-31929329-G-T |
c.795G>T |
p.A265= |
Synonymous |
9/28 |
- |
3 |
6-31929330-TC-AA |
c.796_797delinsAA |
p.S266N |
Missense |
9/28 |
- |
1 |
6-31929330-TC-CT |
c.796_797delinsCT |
p.S266L |
Missense |
9/28 |
- |
1 |
6-31929333-A-G |
c.799A>G |
p.T267A |
Missense |
9/28 |
- |
1 |
6-31929334-C-T |
c.800C>T |
p.T267I |
Missense |
9/28 |
- |
1 |
6-31929336-G-A |
c.802G>A |
p.A268T |
Missense |
9/28 |
- |
1 |
6-31929342-TC-CG |
c.808_809delinsCG |
p.S270R |
Missense |
9/28 |
- |
1 |
6-31929345-CA-C |
c.811del |
p.T271Pfs*83 |
Frameshift |
9/28 |
- |
1 |
6-31929348-C-A |
c.814C>A |
p.P272T |
Missense |
9/28 |
- |
1 |
6-31929351-G-C |
c.817G>C |
p.E273Q |
Missense |
9/28 |
- |
1 |
6-31929356-C-A |
c.822C>A |
p.A274= |
Synonymous |
9/28 |
- |
1 |
6-31929367-C-T |
c.833C>T |
p.P278L |
Missense |
9/28 |
- |
1 |
6-31929370-C-T |
c.836C>T |
p.S279F |
Missense |
9/28 |
- |
1 |
6-31929371-T-C |
c.837T>C |
p.S279= |
Synonymous |
9/28 |
- |
1 |
6-31929372-C-G |
c.838C>G |
p.Q280E |
Missense |
9/28 |
- |
1 |
6-31929373-A-C |
c.839A>C |
p.Q280P |
Missense |
9/28 |
- |
1 |
6-31929373-A-T |
c.839A>T |
p.Q280L |
Missense |
9/28 |
- |
1 |
6-31929382-G-A |
c.848G>A |
p.W283* |
Nonsense |
9/28 |
- |
7 |
6-31929382-G-T |
c.848G>T |
p.W283L |
Missense |
9/28 |
- |
1 |
6-31929384-G-A |
c.850G>A |
p.A284T |
Missense |
9/28 |
- |
2 |
6-31929388-T-G |
c.854T>G |
p.I285S |
Missense |
9/28 |
- |
1 |
6-31929390-C-T |
c.856C>T |
p.P286S |
Missense |
9/28 |
- |
2 |
6-31929394-T-C |
c.860T>C |
p.V287A |
Missense |
9/28 |
- |
1 |
6-31929399-G-A |
c.865G>A |
p.A289T |
Missense |
9/28 |
- |
1 |
6-31929406-C-A |
c.872C>A |
p.S291Y |
Missense |
9/28 |
- |
2 |
6-31929411-G-A |
c.877G>A |
p.V293I |
Missense |
9/28 |
- |
1 |
6-31929415-G-C |
c.881G>C |
p.G294A |
Missense |
9/28 |
- |
1 |
6-31929417-G-A |
c.883G>A |
p.D295N |
Missense |
9/28 |
- |
1 |
6-31929418-A-G |
c.884A>G |
p.D295G |
Missense |
9/28 |
- |
1 |
6-31929422-C-G |
c.888C>G |
p.F296L |
Missense |
9/28 |
- |
1 |
6-31929423-T-C |
c.889T>C |
p.Y297H |
Missense |
9/28 |
- |
1 |
6-31929424-A-G |
c.890A>G |
p.Y297C |
Missense |
9/28 |
- |
1 |
6-31929424-A-T |
c.890A>T |
p.Y297F |
Missense |
9/28 |
- |
1 |
6-31929426-C-T |
c.892C>T |
p.R298C |
Missense |
9/28 |
- |
1 |
6-31929427-G-A |
c.893G>A |
p.R298H |
Missense |
9/28 |
- |
1 |
6-31929427-GC-AA |
c.893_894delinsAA |
p.R298Q |
Missense |
9/28 |
- |
1 |
6-31929429-C-A |
c.895C>A |
p.L299I |
Missense |
9/28 |
- |
1 |
6-31929430-T-G |
c.896T>G |
p.L299R |
Missense |
9/28 |
- |
1 |
6-31929435-C-T |
c.901C>T |
p.P301S |
Missense |
9/28 |
- |
2 |
6-31929437-C-A |
c.903C>A |
p.P301= |
Synonymous |
9/28 |
- |
1 |
6-31929438-C-T |
c.904C>T |
p.Q302* |
Nonsense |
9/28 |
- |
4 |
6-31929442-C-T |
c.908C>T |
p.P303L |
Missense |
9/28 |
- |
1 |
6-31929450-C-G |
c.916C>G |
p.Q306E |
Missense |
9/28 |
- |
1 |
6-31929450-C-T |
c.916C>T |
p.Q306* |
Nonsense |
9/28 |
- |
1 |
6-31929510-C-T |
c.918+58C>T |
- |
IntronicSNV |
- |
9/27 |
1 |
6-31929687-G-A |
c.920G>A |
p.W307* |
Nonsense |
10/28 |
- |
1 |
6-31929687-G-T |
c.920G>T |
p.W307L |
Missense |
10/28 |
- |
2 |
6-31929690-C-T |
c.923C>T |
p.A308V |
Missense |
10/28 |
- |
2 |
6-31929702-A-G |
c.935A>G |
p.D312G |
Missense |
10/28 |
- |
1 |
6-31929706-G-A |
c.939G>A |
p.V313= |
Synonymous |
10/28 |
- |
1 |
6-31929706-G-C |
c.939G>C |
p.V313= |
Synonymous |
10/28 |
- |
1 |
6-31929706-G-T |
c.939G>T |
p.V313= |
Synonymous |
10/28 |
- |
1 |
6-31929710-C-A |
c.943C>A |
p.Q315K |
Missense |
10/28 |
- |
1 |
6-31929710-C-G |
c.943C>G |
p.Q315E |
Missense |
10/28 |
- |
1 |
6-31929711-A-G |
c.944A>G |
p.Q315R |
Missense |
10/28 |
- |
1 |
6-31929713-A-C |
c.946A>C |
p.K316Q |
Missense |
10/28 |
- |
1 |
6-31929720-C-G |
c.953C>G |
p.A318G |
Missense |
10/28 |
- |
1 |
6-31929721-C-T |
c.954C>T |
p.A318= |
Synonymous |
10/28 |
- |
1 |
6-31929722-A-G |
c.955A>G |
p.I319V |
Missense |
10/28 |
- |
1 |
6-31929731-T-A |
c.964T>A |
p.L322M |
Missense |
10/28 |
- |
1 |
6-31929734-G-A |
c.967G>A |
p.E323K |
Missense |
10/28 |
- |
1 |
6-31929737-CG-TA |
c.970_971delinsTA |
p.R324* |
Nonsense |
10/28 |
- |
1 |
6-31929737-C-T |
c.970C>T |
p.R324W |
Missense |
10/28 |
- |
9 |
6-31929738-G-A |
c.971G>A |
p.R324Q |
Missense |
10/28 |
- |
1 |
6-31929740-C-T |
c.973C>T |
p.H325Y |
Missense |
10/28 |
- |
1 |
6-31929744-A-C |
c.977A>C |
p.D326A |
Missense |
10/28 |
- |
1 |
6-31929746-T-C |
c.979T>C |
p.S327P |
Missense |
10/28 |
- |
1 |
6-31929752-T-C |
c.985T>C |
p.F329L |
Missense |
10/28 |
- |
1 |
6-31929755-G-C |
c.988G>C |
p.V330L |
Missense |
10/28 |
- |
1 |
6-31929757-C-A |
c.990C>A |
p.V330= |
Synonymous |
10/28 |
- |
1 |
6-31929757-C-G |
c.990C>G |
p.V330= |
Synonymous |
10/28 |
- |
1 |
6-31929757-C-T |
c.990C>T |
p.V330= |
Synonymous |
10/28 |
- |
3 |
6-31929758-G-A |
c.991G>A |
p.A331T |
Missense |
10/28 |
- |
2 |
6-31929759-C-T |
c.992C>T |
p.A331V |
Missense |
10/28 |
- |
2 |
6-31929761-G-C |
c.994G>C |
p.A332P |
Missense |
10/28 |
- |
1 |
6-31929762-C-T |
c.995C>T |
p.A332V |
Missense |
10/28 |
- |
1 |
6-31929764-C-A |
c.997C>A |
p.H333N |
Missense |
10/28 |
- |
1 |
6-31929764-C-G |
c.997C>G |
p.H333D |
Missense |
10/28 |
- |
1 |
6-31929767-AC-TA |
c.1000_1001delinsTA |
p.T334* |
Nonsense |
10/28 |
- |
1 |
6-31929770-TC-CT |
c.1003_1004delinsCT |
p.S335L |
Missense |
10/28 |
- |
1 |
6-31929771-CT-AA |
c.1004_1005delinsAA |
p.S335* |
Nonsense |
10/28 |
- |
1 |
6-31929774-C-G |
c.1007C>G |
p.A336G |
Missense |
10/28 |
- |
1 |
6-31929778-A-T |
c.1011A>T |
p.G337= |
Synonymous |
10/28 |
- |
1 |
6-31929780-A-G |
c.1013A>G |
p.K338R |
Missense |
10/28 |
- |
1 |
6-31929782-A-G |
c.1015A>G |
p.T339A |
Missense |
10/28 |
- |
1 |
6-31929785-G-A |
c.1018G>A |
p.V340I |
Missense |
10/28 |
- |
1 |
6-31929786-T-C |
c.1019T>C |
p.V340A |
Missense |
10/28 |
- |
2 |
6-31929785-G-GT |
c.1020dup |
p.V341Cfs*3 |
Frameshift |
10/28 |
- |
1 |
6-31929787-T-C |
c.1020T>C |
p.V340= |
Synonymous |
10/28 |
- |
1 |
6-31929788-G-C |
c.1021G>C |
p.V341L |
Missense |
10/28 |
- |
1 |
6-31929789-T-G |
c.1022T>G |
p.V341G |
Missense |
10/28 |
- |
11 |
6-31929792-C-A |
c.1025C>A |
p.A342D |
Missense |
10/28 |
- |
1 |
6-31929794-G-T |
c.1027G>T |
p.E343* |
Nonsense |
10/28 |
- |
1 |
6-31929797-T-C |
c.1030T>C |
p.Y344H |
Missense |
10/28 |
- |
1 |
6-31929800-G-A |
c.1033G>A |
p.A345T |
Missense |
10/28 |
- |
1 |
6-31929803-A-G |
c.1036A>G |
p.I346V |
Missense |
10/28 |
- |
4 |
6-31929804-T-C |
c.1037T>C |
p.I346T |
Missense |
10/28 |
- |
1 |
6-31929806-G-T |
c.1039G>T |
p.A347S |
Missense |
10/28 |
- |
1 |
6-31929808-C-A |
c.1041C>A |
p.A347= |
Synonymous |
10/28 |
- |
3 |
6-31929808-C-G |
c.1041C>G |
p.A347= |
Synonymous |
10/28 |
- |
3 |
6-31929808-C-T |
c.1041C>T |
p.A347= |
Synonymous |
10/28 |
- |
5 |
6-31929809-C-T |
c.1042C>T |
p.L348= |
Synonymous |
10/28 |
- |
1 |
6-31929811-G-A |
c.1044G>A |
p.L348= |
Synonymous |
10/28 |
- |
2 |
6-31929811-G-C |
c.1044G>C |
p.L348= |
Synonymous |
10/28 |
- |
1 |
6-31929811-G-T |
c.1044G>T |
p.L348= |
Synonymous |
10/28 |
- |
1 |
6-31929812-G-A |
c.1045G>A |
p.A349T |
Missense |
10/28 |
- |
1 |
6-31929813-C-A |
c.1046C>A |
p.A349D |
Missense |
10/28 |
- |
3 |
6-31929815-C-T |
c.1048C>T |
p.Q350* |
Nonsense |
10/28 |
- |
1 |
6-31929817-G-A |
c.1050G>A |
p.Q350= |
Synonymous |
10/28 |
- |
1 |
6-31929822-A-C |
c.1055A>C |
p.H352P |
Missense |
10/28 |
- |
1 |
6-31929830-C-T |
c.1063C>T |
p.R355C |
Missense |
10/28 |
- |
2 |
6-31929831-G-A |
c.1064G>A |
p.R355H |
Missense |
10/28 |
- |
1 |
6-31929831-G-C |
c.1064G>C |
p.R355P |
Missense |
10/28 |
- |
2 |
6-31930222-C-T |
c.1071C>T |
p.I357= |
Synonymous |
11/28 |
- |
1 |
6-31930229-TC-GG |
c.1078_1079delinsGG |
p.S360G |
Missense |
11/28 |
- |
1 |
6-31930230-C-T |
c.1079C>T |
p.S360L |
Missense |
11/28 |
- |
3 |
6-31930231-G-A |
c.1080G>A |
p.S360= |
Synonymous |
11/28 |
- |
2 |
6-31930231-G-C |
c.1080G>C |
p.S360= |
Synonymous |
11/28 |
- |
1 |
6-31930231-G-T |
c.1080G>T |
p.S360= |
Synonymous |
11/28 |
- |
2 |
6-31930233-C-T |
c.1082C>T |
p.P361L |
Missense |
11/28 |
- |
1 |
6-31930234-C-A |
c.1083C>A |
p.P361= |
Synonymous |
11/28 |
- |
1 |
6-31930234-C-T |
c.1083C>T |
p.P361= |
Synonymous |
11/28 |
- |
1 |
6-31930235-A-G |
c.1084A>G |
p.I362V |
Missense |
11/28 |
- |
1 |
6-31930237-C-A |
c.1086C>A |
p.I362= |
Synonymous |
11/28 |
- |
1 |
6-31930237-C-T |
c.1086C>T |
p.I362= |
Synonymous |
11/28 |
- |
1 |
6-31930240-G-A |
c.1089G>A |
p.K363= |
Synonymous |
11/28 |
- |
1 |
6-31930242-C-T |
c.1091C>T |
p.A364V |
Missense |
11/28 |
- |
2 |
6-31930246-G-A |
c.1095G>A |
p.L365= |
Synonymous |
11/28 |
- |
1 |
6-31930247-A-C |
c.1096A>C |
p.S366R |
Missense |
11/28 |
- |
1 |
6-31930249-C-A |
c.1098C>A |
p.S366R |
Missense |
11/28 |
- |
1 |
6-31930249-C-G |
c.1098C>G |
p.S366R |
Missense |
11/28 |
- |
1 |
6-31930253-C-T |
c.1102C>T |
p.Q368* |
Nonsense |
11/28 |
- |
1 |
6-31930257-AG-GC |
c.1106_1107delinsGC |
p.K369S |
Missense |
11/28 |
- |
1 |
6-31930258-G-A |
c.1107G>A |
p.K369= |
Synonymous |
11/28 |
- |
1 |
6-31930258-G-C |
c.1107G>C |
p.K369N |
Missense |
11/28 |
- |
3 |
6-31930258-G-T |
c.1107G>T |
p.K369N |
Missense |
11/28 |
- |
2 |
6-31930260-T-C |
c.1109T>C |
p.F370S |
Missense |
11/28 |
- |
1 |
6-31930261-C-T |
c.1110C>T |
p.F370= |
Synonymous |
11/28 |
- |
1 |
6-31930262-C-T |
c.1111C>T |
p.R371W |
Missense |
11/28 |
- |
1 |
6-31930263-G-A |
c.1112G>A |
p.R371Q |
Missense |
11/28 |
- |
2 |
6-31930263-G-T |
c.1112G>T |
p.R371L |
Missense |
11/28 |
- |
3 |
6-31930268-T-G |
c.1117T>G |
p.F373V |
Missense |
11/28 |
- |
1 |
6-31930270-C-T |
c.1119C>T |
p.F373= |
Synonymous |
11/28 |
- |
1 |
6-31930271-C-T |
c.1120C>T |
p.R374* |
Nonsense |
11/28 |
- |
5 |
6-31930272-G-A |
c.1121G>A |
p.R374Q |
Missense |
11/28 |
- |
4 |
6-31930274-A-G |
c.1123A>G |
p.N375D |
Missense |
11/28 |
- |
1 |
6-31930277-A-G |
c.1126A>G |
p.T376A |
Missense |
11/28 |
- |
3 |
6-31930283-G-A |
c.1132G>A |
p.G378R |
Missense |
11/28 |
- |
1 |
6-31930283-GG-CT |
c.1132_1133delinsCT |
p.G378L |
Missense |
11/28 |
- |
1 |
6-31930283-GG-TA |
c.1132_1133delinsTA |
p.G378* |
Nonsense |
11/28 |
- |
1 |
6-31930283-GG-TT |
c.1132_1133delinsTT |
p.G378L |
Missense |
11/28 |
- |
1 |
6-31930285-G-C |
c.1134G>C |
p.G378= |
Synonymous |
11/28 |
- |
1 |
6-31930287-A-T |
c.1136A>T |
p.D379V |
Missense |
11/28 |
- |
1 |
6-31930289-G-A |
c.1138G>A |
p.V380M |
Missense |
11/28 |
- |
1 |
6-31930289-G-T |
c.1138G>T |
p.V380L |
Missense |
11/28 |
- |
1 |
6-31930294-G-A |
c.1143G>A |
p.G381= |
Synonymous |
11/28 |
- |
2 |
6-31930294-G-C |
c.1143G>C |
p.G381= |
Synonymous |
11/28 |
- |
2 |
6-31930294-G-T |
c.1143G>T |
p.G381= |
Synonymous |
11/28 |
- |
2 |
6-31930302-CC-GG |
c.1151_1152inv |
p.T384R |
Missense |
11/28 |
- |
1 |
6-31930302-C-G |
c.1151C>G |
p.T384S |
Missense |
11/28 |
- |
1 |
6-31930302-C-T |
c.1151C>T |
p.T384I |
Missense |
11/28 |
- |
1 |
6-31930304-G-T |
c.1153G>T |
p.G385W |
Missense |
11/28 |
- |
1 |
6-31930306-G-A |
c.1155G>A |
p.G385= |
Synonymous |
11/28 |
- |
1 |
6-31930306-G-C |
c.1155G>C |
p.G385= |
Synonymous |
11/28 |
- |
1 |
6-31930306-G-T |
c.1155G>T |
p.G385= |
Synonymous |
11/28 |
- |
1 |
6-31930307-G-T |
c.1156G>T |
p.D386Y |
Missense |
11/28 |
- |
2 |
6-31930319-GC-G |
c.1168del |
p.H390Ifs*9 |
Frameshift |
11/28 |
- |
1 |
6-31930322-C-T |
c.1171C>T |
p.P391S |
Missense |
11/28 |
- |
1 |
6-31930323-C-T |
c.1172C>T |
p.P391L |
Missense |
11/28 |
- |
1 |
6-31930324-G-A |
c.1173G>A |
p.P391= |
Synonymous |
11/28 |
- |
1 |
6-31930325-G-T |
c.1174G>T |
p.E392* |
Nonsense |
11/28 |
- |
1 |
6-31930337-C-T |
c.1186C>T |
p.L396F |
Missense |
11/28 |
- |
1 |
6-31930342-C-A |
c.1191C>A |
p.I397= |
Synonymous |
11/28 |
- |
2 |
6-31930342-C-T |
c.1191C>T |
p.I397= |
Synonymous |
11/28 |
- |
5 |
6-31930345-G-A |
c.1194G>A |
p.M398I |
Missense |
11/28 |
- |
1 |
6-31930345-G-C |
c.1194G>C |
p.M398I |
Missense |
11/28 |
- |
1 |
6-31930345-G-T |
c.1194G>T |
p.M398I |
Missense |
11/28 |
- |
1 |
6-31930351-A-C |
c.1200A>C |
p.T400= |
Synonymous |
11/28 |
- |
1 |
6-31930351-A-G |
c.1200A>G |
p.T400= |
Synonymous |
11/28 |
- |
11 |
6-31930351-A-T |
c.1200A>T |
p.T400= |
Synonymous |
11/28 |
- |
1 |
6-31930352-G-A |
c.1201G>A |
p.E401K |
Missense |
11/28 |
- |
2 |
6-31930353-A-T |
c.1202A>T |
p.E401V |
Missense |
11/28 |
- |
1 |
6-31930354-AG-A |
c.1203del |
p.I402Sfs*52 |
Frameshift |
11/28 |
- |
1 |
6-31930357-C-T |
c.1206C>T |
p.I402= |
Synonymous |
11/28 |
- |
4 |
6-31930362-G-A |
c.1211G>A |
p.R404H |
Missense |
11/28 |
- |
2 |
6-31930387-G-A |
c.1211+25G>A |
- |
IntronicSNV |
- |
11/27 |
1 |
6-31930441-G-A |
c.1212-50G>A |
- |
IntronicSNV |
- |
11/27 |
19 |
6-31930441-G-C |
c.1212-50G>C |
- |
IntronicSNV |
- |
11/27 |
19 |
6-31930441-G-T |
c.1212-50G>T |
- |
IntronicSNV |
- |
11/27 |
19 |
6-31930462-G-A |
c.1212-29G>A |
- |
IntronicSNV |
- |
11/27 |
61 |
6-31930493-C-T |
c.1214C>T |
p.S405F |
Missense |
12/28 |
- |
3 |
6-31930495-A-G |
c.1216A>G |
p.M406V |
Missense |
12/28 |
- |
1 |
6-31930495-A-T |
c.1216A>T |
p.M406L |
Missense |
12/28 |
- |
1 |
6-31930498-C-A |
c.1219C>A |
p.L407M |
Missense |
12/28 |
- |
1 |
6-31930499-T-C |
c.1220T>C |
p.L407P |
Missense |
12/28 |
- |
1 |
6-31930502-A-G |
c.1223A>G |
p.Y408C |
Missense |
12/28 |
- |
1 |
6-31930508-G-A |
c.1229G>A |
p.G410D |
Missense |
12/28 |
- |
1 |
6-31930513-G-C |
c.1234G>C |
p.D412H |
Missense |
12/28 |
- |
1 |
6-31930533-G-A |
c.1254G>A |
p.E418= |
Synonymous |
12/28 |
- |
3 |
6-31930538-T-G |
c.1259T>G |
p.V420G |
Missense |
12/28 |
- |
2 |
6-31930542-C-A |
c.1263C>A |
p.I421= |
Synonymous |
12/28 |
- |
2 |
6-31930542-C-T |
c.1263C>T |
p.I421= |
Synonymous |
12/28 |
- |
4 |
6-31930543-T-G |
c.1264T>G |
p.F422V |
Missense |
12/28 |
- |
1 |
6-31930550-A-G |
c.1271A>G |
p.E424G |
Missense |
12/28 |
- |
1 |
6-31930556-A-T |
c.1277A>T |
p.H426L |
Missense |
12/28 |
- |
1 |
6-31930558-T-C |
c.1279T>C |
p.Y427H |
Missense |
12/28 |
- |
1 |
6-31930565-A-G |
c.1286A>G |
p.N429S |
Missense |
12/28 |
- |
1 |
6-31930566-C-T |
c.1287C>T |
p.N429= |
Synonymous |
12/28 |
- |
1 |
6-31930567-G-A |
c.1288G>A |
p.D430N |
Missense |
12/28 |
- |
3 |
6-31930572-C-A |
c.1293C>A |
p.V431= |
Synonymous |
12/28 |
- |
1 |
6-31930573-G-A |
c.1294G>A |
p.E432K |
Missense |
12/28 |
- |
1 |
6-31930762-C-T |
c.1297C>T |
p.R433C |
Missense |
13/28 |
- |
6 |
6-31930764-TGG-T |
c.1302_1303del |
p.V435Rfs*11 |
Frameshift |
13/28 |
- |
1 |
6-31930769-T-TC |
c.1305dup |
p.V436Rfs*11 |
Frameshift |
13/28 |
- |
1 |
6-31930771-G-A |
c.1306G>A |
p.V436M |
Missense |
13/28 |
- |
1 |
6-31930777-G-A |
c.1312G>A |
p.E438K |
Missense |
13/28 |
- |
2 |
6-31930777-G-T |
c.1312G>T |
p.E438* |
Nonsense |
13/28 |
- |
1 |
6-31930787-T-G |
c.1322T>G |
p.L441R |
Missense |
13/28 |
- |
1 |
6-31930791-C-A |
c.1326C>A |
p.I442= |
Synonymous |
13/28 |
- |
2 |
6-31930791-C-T |
c.1326C>T |
p.I442= |
Synonymous |
13/28 |
- |
3 |
6-31930792-A-C |
c.1327A>C |
p.M443L |
Missense |
13/28 |
- |
1 |
6-31930792-A-G |
c.1327A>G |
p.M443V |
Missense |
13/28 |
- |
1 |
6-31930795-C-T |
c.1330C>T |
p.L444= |
Synonymous |
13/28 |
- |
1 |
6-31930804-C-T |
c.1339C>T |
p.H447Y |
Missense |
13/28 |
- |
1 |
6-31930806-C-T |
c.1341C>T |
p.H447= |
Synonymous |
13/28 |
- |
2 |
6-31930807-G-A |
c.1342G>A |
p.V448I |
Missense |
13/28 |
- |
1 |
6-31930813-A-G |
c.1348A>G |
p.I450V |
Missense |
13/28 |
- |
2 |
6-31930815-C-A |
c.1350C>A |
p.I450= |
Synonymous |
13/28 |
- |
1 |
6-31930819-C-T |
c.1354C>T |
p.L452F |
Missense |
13/28 |
- |
1 |
6-31930822-C-T |
c.1357C>T |
p.L453= |
Synonymous |
13/28 |
- |
2 |
6-31930824-G-A |
c.1359G>A |
p.L453= |
Synonymous |
13/28 |
- |
2 |
6-31930824-G-C |
c.1359G>C |
p.L453= |
Synonymous |
13/28 |
- |
2 |
6-31930824-G-T |
c.1359G>T |
p.L453= |
Synonymous |
13/28 |
- |
2 |
6-31930826-G-A |
c.1361G>A |
p.S454N |
Missense |
13/28 |
- |
1 |
6-31930829-C-T |
c.1364C>T |
p.A455V |
Missense |
13/28 |
- |
2 |
6-31930832-C-A |
c.1367C>A |
p.T456N |
Missense |
13/28 |
- |
1 |
6-31930833-C-A |
c.1368C>A |
p.T456= |
Synonymous |
13/28 |
- |
3 |
6-31930833-C-G |
c.1368C>G |
p.T456= |
Synonymous |
13/28 |
- |
2 |
6-31930833-C-T |
c.1368C>T |
p.T456= |
Synonymous |
13/28 |
- |
3 |
6-31930834-G-A |
c.1369G>A |
p.V457I |
Missense |
13/28 |
- |
2 |
6-31930837-C-G |
c.1372C>G |
p.P458A |
Missense |
13/28 |
- |
1 |
6-31930837-C-T |
c.1372C>T |
p.P458S |
Missense |
13/28 |
- |
1 |
6-31930841-A-G |
c.1376A>G |
p.N459S |
Missense |
13/28 |
- |
2 |
6-31930842-C-G |
c.1377C>G |
p.N459K |
Missense |
13/28 |
- |
1 |
6-31930842-C-T |
c.1377C>T |
p.N459= |
Synonymous |
13/28 |
- |
1 |
6-31930843-G-A |
c.1378G>A |
p.A460T |
Missense |
13/28 |
- |
1 |
6-31930844-C-G |
c.1379C>G |
p.A460G |
Missense |
13/28 |
- |
1 |
6-31930846-C-T |
c.1381C>T |
p.L461F |
Missense |
13/28 |
- |
5 |
6-31930850-A-G |
c.1385A>G |
p.E462G |
Missense |
13/28 |
- |
1 |
6-31930856-C-T |
c.1391C>T |
p.A464V |
Missense |
13/28 |
- |
1 |
6-31930860-C-A |
c.1395C>A |
p.D465E |
Missense |
13/28 |
- |
1 |
6-31930860-C-G |
c.1395C>G |
p.D465E |
Missense |
13/28 |
- |
2 |
6-31930861-T-G |
c.1396T>G |
p.W466G |
Missense |
13/28 |
- |
2 |
6-31930864-A-C |
c.1399A>C |
p.I467L |
Missense |
13/28 |
- |
2 |
6-31931137-T-C |
c.1404-53T>C |
- |
IntronicSNV |
- |
13/27 |
4 |
6-31931191-C-T |
c.1405C>T |
p.R469W |
Missense |
14/28 |
- |
1 |
6-31931192-G-A |
c.1406G>A |
p.R469Q |
Missense |
14/28 |
- |
1 |
6-31931192-G-T |
c.1406G>T |
p.R469L |
Missense |
14/28 |
- |
1 |
6-31931194-CTG-ATC |
c.1408_1410delinsATC |
p.L470I |
Missense |
14/28 |
- |
1 |
6-31931194-C-T |
c.1408C>T |
p.L470= |
Synonymous |
14/28 |
- |
1 |
6-31931196-G-A |
c.1410G>A |
p.L470= |
Synonymous |
14/28 |
- |
1 |
6-31931196-G-C |
c.1410G>C |
p.L470= |
Synonymous |
14/28 |
- |
1 |
6-31931196-G-T |
c.1410G>T |
p.L470= |
Synonymous |
14/28 |
- |
1 |
6-31931201-GT-AA |
c.1415_1416delinsAA |
p.R472Q |
Missense |
14/28 |
- |
1 |
6-31931203-C-T |
c.1417C>T |
p.R473C |
Missense |
14/28 |
- |
2 |
6-31931204-GT-AA |
c.1418_1419delinsAA |
p.R473Q |
Missense |
14/28 |
- |
1 |
6-31931206-C-T |
c.1420C>T |
p.Q474* |
Nonsense |
14/28 |
- |
4 |
6-31931213-TA-T |
c.1427del |
p.Y476Lfs*2 |
Frameshift |
14/28 |
- |
1 |
6-31931218-AT-A |
c.1434del |
p.S479Afs*3 |
Frameshift |
14/28 |
- |
3 |
6-31931221-TA-T |
c.1435del |
p.S479Afs*3 |
Frameshift |
14/28 |
- |
1 |
6-31931231-C-T |
c.1445C>T |
p.T482I |
Missense |
14/28 |
- |
2 |
6-31931233-CGC-TGG |
c.1447_1449delinsTGG |
p.R483W |
Missense |
14/28 |
- |
1 |
6-31931233-C-T |
c.1447C>T |
p.R483C |
Missense |
14/28 |
- |
7 |
6-31931234-G-A |
c.1448G>A |
p.R483H |
Missense |
14/28 |
- |
3 |
6-31931234-GC-AA |
c.1448_1449delinsAA |
p.R483Q |
Missense |
14/28 |
- |
1 |
6-31931234-GC-G |
c.1452del |
p.V485Cfs*45 |
Frameshift |
14/28 |
- |
2 |
6-31931238-C-A |
c.1452C>A |
p.P484= |
Synonymous |
14/28 |
- |
2 |
6-31931238-C-G |
c.1452C>G |
p.P484= |
Synonymous |
14/28 |
- |
2 |
6-31931238-C-T |
c.1452C>T |
p.P484= |
Synonymous |
14/28 |
- |
2 |
6-31931240-T-C |
c.1454T>C |
p.V485A |
Missense |
14/28 |
- |
3 |
6-31931243-C-T |
c.1457C>T |
p.P486L |
Missense |
14/28 |
- |
2 |
6-31931244-C-T |
c.1458C>T |
p.P486= |
Synonymous |
14/28 |
- |
1 |
6-31931246-T-C |
c.1460T>C |
p.L487P |
Missense |
14/28 |
- |
1 |
6-31931245-C-T |
c.1459C>T |
p.L487= |
Synonymous |
14/28 |
- |
1 |
6-31931247-G-A |
c.1461G>A |
p.L487= |
Synonymous |
14/28 |
- |
1 |
6-31931247-G-C |
c.1461G>C |
p.L487= |
Synonymous |
14/28 |
- |
1 |
6-31931247-G-T |
c.1461G>T |
p.L487= |
Synonymous |
14/28 |
- |
1 |
6-31931248-G-C |
c.1462G>C |
p.E488Q |
Missense |
14/28 |
- |
1 |
6-31931251-C-T |
c.1465C>T |
p.H489Y |
Missense |
14/28 |
- |
1 |
6-31931257-C-A |
c.1471C>A |
p.L491I |
Missense |
14/28 |
- |
1 |
6-31931263-A-G |
c.1477A>G |
p.T493A |
Missense |
14/28 |
- |
1 |
6-31931264-CA-TG |
c.1478_1479inv |
p.T493M |
Missense |
14/28 |
- |
1 |
6-31931266-GGG-TGT |
c.1480_1482delinsTGT |
p.G494C |
Missense |
14/28 |
- |
1 |
6-31931267-GGGA-G |
c.1481_1483del |
p.G494_N495delinsD |
MultiAAMissense |
14/28 |
- |
1 |
6-31931278-A-G |
c.1492A>G |
p.K498E |
Missense |
14/28 |
- |
3 |
6-31931280-G-C |
c.1494G>C |
p.K498N |
Missense |
14/28 |
- |
1 |
6-31931281-A-T |
c.1495A>T |
p.T499S |
Missense |
14/28 |
- |
1 |
6-31931282-C-G |
c.1496C>G |
p.T499S |
Missense |
14/28 |
- |
1 |
6-31931287-G-A |
c.1501G>A |
p.G501R |
Missense |
14/28 |
- |
1 |
6-31931290-G-C |
c.1504G>C |
p.E502Q |
Missense |
14/28 |
- |
1 |
6-31931292-G-A |
c.1506G>A |
p.E502= |
Synonymous |
14/28 |
- |
1 |
6-31931310-C-A |
c.1524C>A |
p.D508E |
Missense |
14/28 |
- |
1 |
6-31931310-C-G |
c.1524C>G |
p.D508E |
Missense |
14/28 |
- |
1 |
6-31931310-C-T |
c.1524C>T |
p.D508= |
Synonymous |
14/28 |
- |
2 |
6-31931313-CC-TT |
c.1527_1528delinsTT |
p.R510* |
Missense |
14/28 |
- |
1 |
6-31931314-C-A |
c.1528C>A |
p.R510= |
Synonymous |
14/28 |
- |
2 |
6-31931314-CGA-TGG |
c.1528_1530delinsTGG |
p.R510W |
Missense |
14/28 |
- |
1 |
6-31931314-C-T |
c.1528C>T |
p.R510* |
Nonsense |
14/28 |
- |
5 |
6-31931315-G-A |
c.1529G>A |
p.R510Q |
Missense |
14/28 |
- |
2 |
6-31931317-G-A |
c.1531G>A |
p.G511R |
Missense |
14/28 |
- |
2 |
6-31931317-G-C |
c.1531G>C |
p.G511R |
Missense |
14/28 |
- |
1 |
6-31931323-T-G |
c.1537T>G |
p.F513V |
Missense |
14/28 |
- |
1 |
6-31931325-C-T |
c.1539C>T |
p.F513= |
Synonymous |
14/28 |
- |
2 |
6-31931326-C-T |
c.1540C>T |
p.H514Y |
Missense |
14/28 |
- |
2 |
6-31931334-A-C |
c.1548A>C |
p.K516N |
Missense |
14/28 |
- |
2 |
6-31931334-A-G |
c.1548A>G |
p.K516= |
Synonymous |
14/28 |
- |
2 |
6-31931415-T-C |
c.1552T>C |
p.Y518H |
Missense |
15/28 |
- |
2 |
6-31931422-C-G |
c.1559C>G |
p.A520G |
Missense |
15/28 |
- |
1 |
6-31931425-C-G |
c.1562C>G |
p.A521G |
Missense |
15/28 |
- |
1 |
6-31931431-A-G |
c.1568A>G |
p.E523G |
Missense |
15/28 |
- |
2 |
6-31931433-G-A |
c.1570G>A |
p.A524T |
Missense |
15/28 |
- |
1 |
6-31931438-G-A |
c.1575G>A |
p.K525= |
Synonymous |
15/28 |
- |
1 |
6-31931440-A-C |
c.1577A>C |
p.K526T |
Missense |
15/28 |
- |
1 |
6-31931444-G-T |
c.1581G>T |
p.E527D |
Missense |
15/28 |
- |
1 |
6-31931454-A-G |
c.1591A>G |
p.K531E |
Missense |
15/28 |
- |
2 |
6-31931460-G-A |
c.1597G>A |
p.A533T |
Missense |
15/28 |
- |
1 |
6-31931461-C-T |
c.1598C>T |
p.A533V |
Missense |
15/28 |
- |
1 |
6-31931467-C-T |
c.1604C>T |
p.T535I |
Missense |
15/28 |
- |
1 |
6-31931476-C-G |
c.1613C>G |
p.A538G |
Missense |
15/28 |
- |
1 |
6-31931476-C-T |
c.1613C>T |
p.A538V |
Missense |
15/28 |
- |
1 |
6-31931484-C-T |
c.1621C>T |
p.P541S |
Missense |
15/28 |
- |
1 |
6-31931487-A-G |
c.1624A>G |
p.T542A |
Missense |
15/28 |
- |
2 |
6-31931488-C-T |
c.1625C>T |
p.T542I |
Missense |
15/28 |
- |
1 |
6-31931492-T-C |
c.1629T>C |
p.H543= |
Synonymous |
15/28 |
- |
1 |
6-31931494-A-G |
c.1631A>G |
p.Q544R |
Missense |
15/28 |
- |
1 |
6-31931495-G-A |
c.1632G>A |
p.Q544= |
Synonymous |
15/28 |
- |
1 |
6-31931495-G-C |
c.1632G>C |
p.Q544H |
Missense |
15/28 |
- |
1 |
6-31931495-G-T |
c.1632G>T |
p.Q544H |
Missense |
15/28 |
- |
2 |
6-31931497-G-A |
c.1634G>A |
p.G545E |
Missense |
15/28 |
- |
1 |
6-31931498-G-GA |
c.1635_1636insA |
p.G546Rfs*35 |
Frameshift |
15/28 |
- |
3 |
6-31931499-G-C |
c.1636G>C |
p.G546R |
Missense |
15/28 |
- |
2 |
6-31931501-C-T |
c.1638C>T |
p.G546= |
Synonymous |
15/28 |
- |
1 |
6-31931505-G-T |
c.1642G>T |
p.A548S |
Missense |
15/28 |
- |
1 |
6-31931506-C-T |
c.1643C>T |
p.A548V |
Missense |
15/28 |
- |
1 |
6-31931511-G-A |
c.1647+1G>A |
- |
IntronicSNV |
- |
15/27 |
2 |
6-31931561-CT-C |
c.1647+59del |
- |
IntronicDeletion |
- |
15/27 |
3 |
6-31931693-C-A |
c.1651C>A |
p.R551S |
Missense |
16/28 |
- |
1 |
6-31931694-G-A |
c.1652G>A |
p.R551H |
Missense |
16/28 |
- |
1 |
6-31931696-G-A |
c.1654G>A |
p.G552R |
Missense |
16/28 |
- |
1 |
6-31931696-G-T |
c.1654G>T |
p.G552* |
Nonsense |
16/28 |
- |
1 |
6-31931705-C-T |
c.1663C>T |
p.L555= |
Synonymous |
16/28 |
- |
1 |
6-31931707-G-A |
c.1665G>A |
p.L555= |
Synonymous |
16/28 |
- |
1 |
6-31931707-G-C |
c.1665G>C |
p.L555= |
Synonymous |
16/28 |
- |
1 |
6-31931707-G-T |
c.1665G>T |
p.L555= |
Synonymous |
16/28 |
- |
1 |
6-31931709-C-T |
c.1667C>T |
p.S556F |
Missense |
16/28 |
- |
3 |
6-31931711-C-G |
c.1669C>G |
p.L557V |
Missense |
16/28 |
- |
1 |
6-31931719-C-G |
c.1677C>G |
p.A559= |
Synonymous |
16/28 |
- |
1 |
6-31931723-C-T |
c.1681C>T |
p.L561F |
Missense |
16/28 |
- |
1 |
6-31931724-T-C |
c.1682T>C |
p.L561P |
Missense |
16/28 |
- |
1 |
6-31931727-G-A |
c.1685G>A |
p.R562H |
Missense |
16/28 |
- |
3 |
6-31931727-G-T |
c.1685G>T |
p.R562L |
Missense |
16/28 |
- |
1 |
6-31931729-A-C |
c.1687A>C |
p.T563P |
Missense |
16/28 |
- |
1 |
6-31931732-C-G |
c.1690C>G |
p.R564G |
Missense |
16/28 |
- |
2 |
6-31931732-C-T |
c.1690C>T |
p.R564C |
Missense |
16/28 |
- |
2 |
6-31931733-G-A |
c.1691G>A |
p.R564H |
Missense |
16/28 |
- |
1 |
6-31931733-G-C |
c.1691G>C |
p.R564P |
Missense |
16/28 |
- |
1 |
6-31931736-C-T |
c.1694C>T |
p.A565V |
Missense |
16/28 |
- |
1 |
6-31931741-T-G |
c.1699T>G |
p.L567V |
Missense |
16/28 |
- |
1 |
6-31931741-TTG-CAT |
c.1699_1701delinsCAT |
p.L567H |
Missense |
16/28 |
- |
1 |
6-31931743-G-C |
c.1701G>C |
p.L567F |
Missense |
16/28 |
- |
1 |
6-31931745-C-T |
c.1703C>T |
p.P568L |
Missense |
16/28 |
- |
1 |
6-31931747-G-A |
c.1705G>A |
p.V569M |
Missense |
16/28 |
- |
10 |
6-31931747-G-C |
c.1705G>C |
p.V569L |
Missense |
16/28 |
- |
2 |
6-31931747-G-T |
c.1705G>T |
p.V569L |
Missense |
16/28 |
- |
1 |
6-31931748-T-C |
c.1706T>C |
p.V569A |
Missense |
16/28 |
- |
2 |
6-31931755-G-A |
c.1713G>A |
p.V571= |
Synonymous |
16/28 |
- |
1 |
6-31931756-T-C |
c.1714T>C |
p.F572L |
Missense |
16/28 |
- |
3 |
6-31931756-T-G |
c.1714T>G |
p.F572V |
Missense |
16/28 |
- |
1 |
6-31931758-C-A |
c.1716C>A |
p.F572L |
Missense |
16/28 |
- |
2 |
6-31931758-C-G |
c.1716C>G |
p.F572L |
Missense |
16/28 |
- |
2 |
6-31931758-C-T |
c.1716C>T |
p.F572= |
Synonymous |
16/28 |
- |
3 |
6-31931768-C-T |
c.1726C>T |
p.R576W |
Missense |
16/28 |
- |
2 |
6-31931769-G-A |
c.1727G>A |
p.R576Q |
Missense |
16/28 |
- |
2 |
6-31931769-G-T |
c.1727G>T |
p.R576L |
Missense |
16/28 |
- |
2 |
6-31931774-C-A |
c.1732C>A |
p.R578S |
Missense |
16/28 |
- |
1 |
6-31931774-C-T |
c.1732C>T |
p.R578C |
Missense |
16/28 |
- |
2 |
6-31931775-G-A |
c.1733G>A |
p.R578H |
Missense |
16/28 |
- |
1 |
6-31931784-A-C |
c.1742A>C |
p.E581A |
Missense |
16/28 |
- |
1 |
6-31931788-G-A |
c.1746G>A |
p.Q582= |
Synonymous |
16/28 |
- |
1 |
6-31931789-G-A |
c.1747G>A |
p.A583T |
Missense |
16/28 |
- |
1 |
6-31931790-C-G |
c.1748C>G |
p.A583G |
Missense |
16/28 |
- |
1 |
6-31931791-C-G |
c.1749C>G |
p.A583= |
Synonymous |
16/28 |
- |
1 |
6-31931792-T-C |
c.1750T>C |
p.S584P |
Missense |
16/28 |
- |
1 |
6-31931792-T-G |
c.1750T>G |
p.S584A |
Missense |
16/28 |
- |
4 |
6-31931793-C-A |
c.1751C>A |
p.S584* |
Nonsense |
16/28 |
- |
1 |
6-31931793-C-T |
c.1751C>T |
p.S584L |
Missense |
16/28 |
- |
2 |
6-31931805-C-T |
c.1763C>T |
p.S588F |
Missense |
16/28 |
- |
1 |
6-31931813-C-G |
c.1771C>G |
p.L591V |
Missense |
16/28 |
- |
1 |
6-31931823-G-C |
c.1781G>C |
p.S594T |
Missense |
16/28 |
- |
1 |
6-31931826-C-T |
c.1784C>T |
p.S595L |
Missense |
16/28 |
- |
5 |
6-31931828-G-A |
c.1786G>A |
p.E596K |
Missense |
16/28 |
- |
2 |
6-31931829-A-G |
c.1787A>G |
p.E596G |
Missense |
16/28 |
- |
1 |
6-31931836-C-G |
c.1794C>G |
p.S598R |
Missense |
16/28 |
- |
1 |
6-31931836-C-T |
c.1794C>T |
p.S598= |
Synonymous |
16/28 |
- |
2 |
6-31931837-G-A |
c.1795G>A |
p.E599K |
Missense |
16/28 |
- |
1 |
6-31931840-A-G |
c.1798A>G |
p.I600V |
Missense |
16/28 |
- |
1 |
6-31931841-T-C |
c.1799T>C |
p.I600T |
Missense |
16/28 |
- |
1 |
6-31931842-C-G |
c.1800C>G |
p.I600M |
Missense |
16/28 |
- |
1 |
6-31931850-T-C |
c.1808T>C |
p.F603S |
Missense |
16/28 |
- |
1 |
6-31931853-T-C |
c.1811T>C |
p.L604P |
Missense |
16/28 |
- |
1 |
6-31931855-C-T |
c.1813C>T |
p.Q605* |
Nonsense |
16/28 |
- |
1 |
6-31931856-A-G |
c.1814A>G |
p.Q605R |
Missense |
16/28 |
- |
1 |
6-31931858-C-T |
c.1816C>T |
p.R606C |
Missense |
16/28 |
- |
6 |
6-31931859-G-A |
c.1817G>A |
p.R606H |
Missense |
16/28 |
- |
2 |
6-31931861-TG-GC |
c.1819_1820delinsGC |
p.C607A |
Missense |
16/28 |
- |
1 |
6-31931862-G-A |
c.1820G>A |
p.C607Y |
Missense |
16/28 |
- |
1 |
6-31931864-C-T |
c.1822C>T |
p.L608F |
Missense |
16/28 |
- |
1 |
6-31931867-G-A |
c.1825G>A |
p.A609T |
Missense |
16/28 |
- |
1 |
6-31931868-C-T |
c.1826C>T |
p.A609V |
Missense |
16/28 |
- |
1 |
6-31931870-C-T |
c.1828C>T |
p.R610C |
Missense |
16/28 |
- |
1 |
6-31931873-C-A |
c.1831C>A |
p.L611I |
Missense |
16/28 |
- |
1 |
6-31931875-C-A |
c.1833C>A |
p.L611= |
Synonymous |
16/28 |
- |
2 |
6-31931875-C-G |
c.1833C>G |
p.L611= |
Synonymous |
16/28 |
- |
2 |
6-31931875-C-T |
c.1833C>T |
p.L611= |
Synonymous |
16/28 |
- |
3 |
6-31931876-C-T |
c.1834C>T |
p.R612C |
Missense |
16/28 |
- |
3 |
6-31931877-G-A |
c.1835G>A |
p.R612H |
Missense |
16/28 |
- |
2 |
6-31931879-G-A |
c.1837G>A |
p.G613S |
Missense |
16/28 |
- |
1 |
6-31931880-G-A |
c.1838G>A |
p.G613D |
Missense |
16/28 |
- |
2 |
6-31931885-G-A |
c.1843G>A |
p.D615N |
Missense |
16/28 |
- |
1 |
6-31931886-GACC-G |
c.1844_1846del |
p.D615_R616delinsG |
MultiAAMissense |
16/28 |
- |
1 |
6-31931887-C-G |
c.1845C>G |
p.D615E |
Missense |
16/28 |
- |
1 |
6-31931889-G-A |
c.1847G>A |
p.R616H |
Missense |
16/28 |
- |
3 |
6-31931896-G-A |
c.1854G>A |
p.L618= |
Synonymous |
16/28 |
- |
1 |
6-31931896-G-GC |
c.1858dup |
p.Q620Pfs*18 |
SpliceDonorInsertion |
16/28 |
- |
1 |
6-31931909-C-T |
c.1860+7C>T |
- |
IntronicSNV |
- |
16/27 |
1 |
6-31931902-GGTGCGTCTGT-G |
c.1860+17_1860+26del |
- |
SpliceDonorDeletion |
- |
16/27 |
1 |
6-31931927-G-A |
c.1860+25G>A |
- |
IntronicSNV |
- |
16/27 |
1 |
6-31931932-T-C |
c.1860+30T>C |
- |
IntronicSNV |
- |
16/27 |
1 |
6-31931955-G-A |
c.1860+53G>A |
- |
IntronicSNV |
- |
16/27 |
1 |
6-31932009-G-C |
c.1861G>C |
p.V621L |
Missense |
17/28 |
- |
1 |
6-31932010-T-C |
c.1862T>C |
p.V621A |
Missense |
17/28 |
- |
1 |
6-31932012-CTG-TTT |
c.1864_1866delinsTTT |
p.L622F |
Missense |
17/28 |
- |
1 |
6-31932019-T-C |
c.1871T>C |
p.M624T |
Missense |
17/28 |
- |
3 |
6-31932021-T-A |
c.1873T>A |
p.S625T |
Missense |
17/28 |
- |
3 |
6-31932021-T-C |
c.1873T>C |
p.S625P |
Missense |
17/28 |
- |
6 |
6-31932024-G-A |
c.1876G>A |
p.E626K |
Missense |
17/28 |
- |
2 |
6-31932029-C-T |
c.1881C>T |
p.L627= |
Synonymous |
17/28 |
- |
1 |
6-31932030-C-T |
c.1882C>T |
p.L628= |
Synonymous |
17/28 |
- |
3 |
6-31932030-CTG-ATC |
c.1882_1884delinsATC |
p.L628I |
Missense |
17/28 |
- |
1 |
6-31932035-T-A |
c.1887T>A |
p.N629K |
Missense |
17/28 |
- |
1 |
6-31932035-T-G |
c.1887T>G |
p.N629K |
Missense |
17/28 |
- |
1 |
6-31932037-G-A |
c.1889G>A |
p.R630H |
Missense |
17/28 |
- |
1 |
6-31932038-C-T |
c.1890C>T |
p.R630= |
Synonymous |
17/28 |
- |
1 |
6-31932039-G-A |
c.1891G>A |
p.G631S |
Missense |
17/28 |
- |
8 |
6-31932039-G-T |
c.1891G>T |
p.G631C |
Missense |
17/28 |
- |
1 |
6-31932040-G-C |
c.1892G>C |
p.G631A |
Missense |
17/28 |
- |
2 |
6-31932041-C-A |
c.1893C>A |
p.G631= |
Synonymous |
17/28 |
- |
1 |
6-31932041-C-G |
c.1893C>G |
p.G631= |
Synonymous |
17/28 |
- |
1 |
6-31932041-C-T |
c.1893C>T |
p.G631= |
Synonymous |
17/28 |
- |
1 |
6-31932042-C-T |
c.1894C>T |
p.L632= |
Synonymous |
17/28 |
- |
1 |
6-31932046-G-T |
c.1898G>T |
p.G633V |
Missense |
17/28 |
- |
1 |
6-31932055-A-G |
c.1907A>G |
p.H636R |
Missense |
17/28 |
- |
1 |
6-31932058-G-A |
c.1910G>A |
p.S637N |
Missense |
17/28 |
- |
1 |
6-31932060-G-A |
c.1912G>A |
p.G638S |
Missense |
17/28 |
- |
2 |
6-31932060-G-C |
c.1912G>C |
p.G638R |
Missense |
17/28 |
- |
1 |
6-31932066-C-T |
c.1918C>T |
p.L640= |
Synonymous |
17/28 |
- |
1 |
6-31932068-G-A |
c.1920G>A |
p.L640= |
Synonymous |
17/28 |
- |
2 |
6-31932068-G-C |
c.1920G>C |
p.L640= |
Synonymous |
17/28 |
- |
1 |
6-31932068-G-T |
c.1920G>T |
p.L640= |
Synonymous |
17/28 |
- |
1 |
6-31932070-C-T |
c.1922C>T |
p.P641L |
Missense |
17/28 |
- |
1 |
6-31932074-C-T |
c.1926C>T |
p.I642= |
Synonymous |
17/28 |
- |
1 |
6-31932075-C-T |
c.1927C>T |
p.L643F |
Missense |
17/28 |
- |
1 |
6-31932077-C-A |
c.1929C>A |
p.L643= |
Synonymous |
17/28 |
- |
2 |
6-31932077-C-G |
c.1929C>G |
p.L643= |
Synonymous |
17/28 |
- |
2 |
6-31932077-C-T |
c.1929C>T |
p.L643= |
Synonymous |
17/28 |
- |
2 |
6-31932086-C-A |
c.1938C>A |
p.I646= |
Synonymous |
17/28 |
- |
1 |
6-31932086-C-T |
c.1938C>T |
p.I646= |
Synonymous |
17/28 |
- |
4 |
6-31932087-G-A |
c.1939G>A |
p.V647M |
Missense |
17/28 |
- |
2 |
6-31932090-G-A |
c.1942G>A |
p.E648K |
Missense |
17/28 |
- |
1 |
6-31932101-C-T |
c.1953C>T |
p.F651= |
Synonymous |
17/28 |
- |
3 |
6-31932104-C-T |
c.1956C>T |
p.S652= |
Synonymous |
17/28 |
- |
2 |
6-31932105-C-T |
c.1957C>T |
p.R653C |
Missense |
17/28 |
- |
2 |
6-31932106-G-A |
c.1958G>A |
p.R653H |
Missense |
17/28 |
- |
1 |
6-31932177-C-T |
c.1971+58C>T |
- |
IntronicSNV |
- |
17/27 |
9 |
6-31932368-G-A |
c.1971+249G>A |
- |
IntronicSNV |
- |
17/27 |
1 |
6-31932368-G-C |
c.1971+249G>C |
- |
IntronicSNV |
- |
17/27 |
1 |
6-31932508-G-A |
c.1971+389G>A |
- |
IntronicSNV |
- |
17/27 |
1 |
6-31932766-G-A |
c.1971+647G>A |
- |
IntronicSNV |
- |
17/27 |
1 |
6-31932766-G-T |
c.1971+647G>T |
- |
IntronicSNV |
- |
17/27 |
1 |
6-31933161-G-A |
c.1972-399G>A |
- |
IntronicSNV |
- |
17/27 |
9 |
6-31933518-T-C |
c.1972-42T>C |
- |
IntronicSNV |
- |
17/27 |
9 |
6-31933575-G-A |
c.1987G>A |
p.E663K |
Missense |
18/28 |
- |
1 |
6-31933577-G-A |
c.1989G>A |
p.E663= |
Synonymous |
18/28 |
- |
1 |
6-31933578-A-G |
c.1990A>G |
p.T664A |
Missense |
18/28 |
- |
2 |
6-31933582-T-C |
c.1994T>C |
p.F665S |
Missense |
18/28 |
- |
1 |
6-31933584-G-A |
c.1996G>A |
p.A666T |
Missense |
18/28 |
- |
1 |
6-31933584-G-T |
c.1996G>T |
p.A666S |
Missense |
18/28 |
- |
1 |
6-31933590-G-A |
c.2002G>A |
p.G668R |
Missense |
18/28 |
- |
1 |
6-31933590-G-T |
c.2002G>T |
p.G668* |
Nonsense |
18/28 |
- |
1 |
6-31933591-G-A |
c.2003G>A |
p.G668E |
Missense |
18/28 |
- |
1 |
6-31933593-G-A |
c.2005G>A |
p.V669I |
Missense |
18/28 |
- |
1 |
6-31933593-G-C |
c.2005G>C |
p.V669L |
Missense |
18/28 |
- |
1 |
6-31933593-G-T |
c.2005G>T |
p.V669L |
Missense |
18/28 |
- |
1 |
6-31933595-A-C |
c.2007A>C |
p.V669= |
Synonymous |
18/28 |
- |
1 |
6-31933595-A-G |
c.2007A>G |
p.V669= |
Synonymous |
18/28 |
- |
1 |
6-31933595-A-T |
c.2007A>T |
p.V669= |
Synonymous |
18/28 |
- |
1 |
6-31933599-A-G |
c.2011A>G |
p.M671V |
Missense |
18/28 |
- |
1 |
6-31933608-C-A |
c.2020C>A |
p.R674S |
Missense |
18/28 |
- |
1 |
6-31933608-C-G |
c.2020C>G |
p.R674G |
Missense |
18/28 |
- |
2 |
6-31933609-G-A |
c.2021G>A |
p.R674H |
Missense |
18/28 |
- |
1 |
6-31933611-A-T |
c.2023A>T |
p.T675S |
Missense |
18/28 |
- |
1 |
6-31933619-G-GTT |
c.2033_2034dup |
p.D679Lfs*55 |
Frameshift |
18/28 |
- |
1 |
6-31933619-G-GT |
c.2034dup |
p.D679* |
Nonsense |
18/28 |
- |
1 |
6-31933623-G-A |
c.2035G>A |
p.D679N |
Missense |
18/28 |
- |
2 |
6-31933627-C-G |
c.2039C>G |
p.S680C |
Missense |
18/28 |
- |
2 |
6-31933632-C-T |
c.2044C>T |
p.R682C |
Missense |
18/28 |
- |
1 |
6-31933633-G-A |
c.2045G>A |
p.R682H |
Missense |
18/28 |
- |
2 |
6-31933639-A-T |
c.2051A>T |
p.H684L |
Missense |
18/28 |
- |
1 |
6-31933640-C-T |
c.2052C>T |
p.H684= |
Synonymous |
18/28 |
- |
7 |
6-31933641-G-A |
c.2053G>A |
p.D685N |
Missense |
18/28 |
- |
2 |
6-31933647-T-C |
c.2059T>C |
p.S687P |
Missense |
18/28 |
- |
1 |
6-31933648-C-A |
c.2060C>A |
p.S687Y |
Missense |
18/28 |
- |
1 |
6-31933648-C-T |
c.2060C>T |
p.S687F |
Missense |
18/28 |
- |
2 |
6-31933652-C-T |
c.2064C>T |
p.T688= |
Synonymous |
18/28 |
- |
3 |
6-31933655-C-T |
c.2067C>T |
p.F689= |
Synonymous |
18/28 |
- |
1 |
6-31933656-CGG-TGT |
c.2068_2070delinsTGT |
p.R690C |
Missense |
18/28 |
- |
1 |
6-31933656-C-T |
c.2068C>T |
p.R690W |
Missense |
18/28 |
- |
1 |
6-31933657-G-A |
c.2069G>A |
p.R690Q |
Missense |
18/28 |
- |
1 |
6-31933659-G-A |
c.2071G>A |
p.D691N |
Missense |
18/28 |
- |
1 |
6-31933672-G-A |
c.2084G>A |
p.G695E |
Missense |
18/28 |
- |
1 |
6-31933673-G-A |
c.2085G>A |
p.G695= |
Synonymous |
18/28 |
- |
1 |
6-31933673-G-C |
c.2085G>C |
p.G695= |
Synonymous |
18/28 |
- |
1 |
6-31933673-G-T |
c.2085G>T |
p.G695= |
Synonymous |
18/28 |
- |
1 |
6-31933674-G-A |
c.2086G>A |
p.E696K |
Missense |
18/28 |
- |
1 |
6-31933678-A-G |
c.2090A>G |
p.Y697C |
Missense |
18/28 |
- |
1 |
6-31933689-G-A |
c.2101G>A |
p.A701T |
Missense |
18/28 |
- |
1 |
6-31933694-C-T |
c.2106C>T |
p.G702= |
Synonymous |
18/28 |
- |
1 |
6-31933695-C-T |
c.2107C>T |
p.R703W |
Missense |
18/28 |
- |
1 |
6-31933699-C-G |
c.2111C>G |
p.A704G |
Missense |
18/28 |
- |
1 |
6-31933701-G-T |
c.2113G>T |
p.G705W |
Missense |
18/28 |
- |
1 |
6-31933702-G-C |
c.2114G>C |
p.G705A |
Missense |
18/28 |
- |
1 |
6-31933705-G-A |
c.2117G>A |
p.R706Q |
Missense |
18/28 |
- |
1 |
6-31933709-G-A |
c.2121G>A |
p.R707= |
Synonymous |
18/28 |
- |
3 |
6-31933711-G-A |
c.2123G>A |
p.G708D |
Missense |
18/28 |
- |
1 |
6-31933714-T-A |
c.2126T>A |
p.L709Q |
Missense |
18/28 |
- |
1 |
6-31933717-A-C |
c.2129A>C |
p.D710A |
Missense |
18/28 |
- |
1 |
6-31933721-C-T |
c.2133C>T |
p.P711= |
Synonymous |
18/28 |
- |
3 |
6-31933725-G-T |
c.2137G>T |
p.G713C |
Missense |
18/28 |
- |
1 |
6-31933729-C-T |
c.2141C>T |
p.T714I |
Missense |
18/28 |
- |
1 |
6-31933730-C-A |
c.2142C>A |
p.T714= |
Synonymous |
18/28 |
- |
1 |
6-31933730-C-G |
c.2142C>G |
p.T714= |
Synonymous |
18/28 |
- |
1 |
6-31933730-C-T |
c.2142C>T |
p.T714= |
Synonymous |
18/28 |
- |
1 |
6-31933731-G-A |
c.2143G>A |
p.V715I |
Missense |
18/28 |
- |
1 |
6-31933737-C-A |
c.2149C>A |
p.L717M |
Missense |
18/28 |
- |
1 |
6-31933737-C-G |
c.2149C>G |
p.L717V |
Missense |
18/28 |
- |
1 |
6-31933742-C-G |
c.2154C>G |
p.L718= |
Synonymous |
18/28 |
- |
1 |
6-31933750-G-C |
c.2162G>C |
p.G721A |
Missense |
18/28 |
- |
1 |
6-31933752-C-T |
c.2164C>T |
p.R722* |
Nonsense |
18/28 |
- |
2 |
6-31933753-G-A |
c.2165G>A |
p.R722Q |
Missense |
18/28 |
- |
3 |
6-31933758-C-T |
c.2170C>T |
p.P724S |
Missense |
18/28 |
- |
1 |
6-31933760-C-A |
c.2172C>A |
p.P724= |
Synonymous |
18/28 |
- |
2 |
6-31933760-C-G |
c.2172C>G |
p.P724= |
Synonymous |
18/28 |
- |
1 |
6-31933760-C-T |
c.2172C>T |
p.P724= |
Synonymous |
18/28 |
- |
1 |
6-31933761-G-A |
c.2173G>A |
p.E725K |
Missense |
18/28 |
- |
1 |
6-31933768-C-G |
c.2180C>G |
p.A727G |
Missense |
18/28 |
- |
1 |
6-31933769-A-G |
c.2181A>G |
p.A727= |
Synonymous |
18/28 |
- |
1 |
6-31933774-T-C |
c.2186T>C |
p.L729P |
Missense |
18/28 |
- |
1 |
6-31933779-CG-AT |
c.2191_2192delinsAT |
p.R731I |
Missense |
18/28 |
- |
1 |
6-31933779-C-T |
c.2191C>T |
p.R731C |
Missense |
18/28 |
- |
1 |
6-31933780-G-A |
c.2192G>A |
p.R731H |
Missense |
18/28 |
- |
2 |
6-31933780-G-C |
c.2192G>C |
p.R731P |
Missense |
18/28 |
- |
1 |
6-31933782-A-G |
c.2194A>G |
p.M732V |
Missense |
18/28 |
- |
2 |
6-31933786-T-A |
c.2198T>A |
p.M733K |
Missense |
18/28 |
- |
1 |
6-31933977-A-C |
c.2202+187A>C |
- |
IntronicSNV |
- |
18/27 |
1 |
6-31934372-C-T |
c.2203-114C>T |
- |
IntronicSNV |
- |
18/27 |
5 |
6-31934485-G-A |
c.2203-1G>A |
- |
IntronicSNV |
- |
18/27 |
1 |
6-31934485-G-C |
c.2203-1G>C |
- |
IntronicSNV |
- |
18/27 |
1 |
6-31934487-G-A |
c.2204G>A |
p.G735E |
Missense |
19/28 |
- |
1 |
6-31934494-G-A |
c.2211G>A |
p.P737= |
Synonymous |
19/28 |
- |
4 |
6-31934494-G-C |
c.2211G>C |
p.P737= |
Synonymous |
19/28 |
- |
1 |
6-31934494-G-T |
c.2211G>T |
p.P737= |
Synonymous |
19/28 |
- |
1 |
6-31934496-C-T |
c.2213C>T |
p.S738F |
Missense |
19/28 |
- |
1 |
6-31934510-C-T |
c.2227C>T |
p.Q743* |
Nonsense |
19/28 |
- |
1 |
6-31934516-C-T |
c.2233C>T |
p.R745C |
Missense |
19/28 |
- |
4 |
6-31934517-GC-AA |
c.2234_2235delinsAA |
p.R745Q |
Missense |
19/28 |
- |
1 |
6-31934521-C-A |
c.2238C>A |
p.L746= |
Synonymous |
19/28 |
- |
1 |
6-31934521-C-G |
c.2238C>G |
p.L746= |
Synonymous |
19/28 |
- |
1 |
6-31934521-C-T |
c.2238C>T |
p.L746= |
Synonymous |
19/28 |
- |
2 |
6-31934523-C-A |
c.2240C>A |
p.T747K |
Missense |
19/28 |
- |
1 |
6-31934523-C-T |
c.2240C>T |
p.T747M |
Missense |
19/28 |
- |
4 |
6-31934524-G-A |
c.2241G>A |
p.T747= |
Synonymous |
19/28 |
- |
3 |
6-31934524-G-C |
c.2241G>C |
p.T747= |
Synonymous |
19/28 |
- |
1 |
6-31934524-G-T |
c.2241G>T |
p.T747= |
Synonymous |
19/28 |
- |
1 |
6-31934528-AC-TG |
c.2245_2246delinsTG |
p.T749C |
Missense |
19/28 |
- |
1 |
6-31934532-T-C |
c.2249T>C |
p.M750T |
Missense |
19/28 |
- |
1 |
6-31934540-A-T |
c.2257A>T |
p.N753Y |
Missense |
19/28 |
- |
3 |
6-31934543-T-C |
c.2260T>C |
p.L754= |
Synonymous |
19/28 |
- |
1 |
6-31934545-G-A |
c.2262G>A |
p.L754= |
Synonymous |
19/28 |
- |
1 |
6-31934549-C-T |
c.2266C>T |
p.R756* |
Nonsense |
19/28 |
- |
4 |
6-31934550-G-C |
c.2267G>C |
p.R756P |
Missense |
19/28 |
- |
3 |
6-31934556-A-G |
c.2273A>G |
p.D758G |
Missense |
19/28 |
- |
1 |
6-31934556-A-T |
c.2273A>T |
p.D758V |
Missense |
19/28 |
- |
2 |
6-31934560-C-T |
c.2277C>T |
p.A759= |
Synonymous |
19/28 |
- |
1 |
6-31934561-C-G |
c.2278C>G |
p.L760V |
Missense |
19/28 |
- |
1 |
6-31934566-G-A |
c.2283G>A |
p.R761= |
Synonymous |
19/28 |
- |
1 |
6-31934575-C-T |
c.2292C>T |
p.D764= |
Synonymous |
19/28 |
- |
1 |
6-31934576-A-G |
c.2293A>G |
p.M765V |
Missense |
19/28 |
- |
1 |
6-31934576-CA-C |
c.2293del |
p.M765* |
Frameshift |
19/28 |
- |
1 |
6-31934578-G-A |
c.2295G>A |
p.M765I |
Missense |
19/28 |
- |
2 |
6-31934578-G-C |
c.2295G>C |
p.M765I |
Missense |
19/28 |
- |
2 |
6-31934578-G-T |
c.2295G>T |
p.M765I |
Missense |
19/28 |
- |
2 |
6-31934580-T-A |
c.2297T>A |
p.M766K |
Missense |
19/28 |
- |
1 |
6-31934584-G-C |
c.2301G>C |
p.K767N |
Missense |
19/28 |
- |
1 |
6-31934584-G-T |
c.2301G>T |
p.K767N |
Missense |
19/28 |
- |
1 |
6-31934585-AGG-CAT |
c.2302_2304delinsCAT |
p.R768H |
Missense |
19/28 |
- |
1 |
6-31934586-G-A |
c.2303G>A |
p.R768K |
Missense |
19/28 |
- |
1 |
6-31934586-G-T |
c.2303G>T |
p.R768M |
Missense |
19/28 |
- |
1 |
6-31934589-G-A |
c.2306G>A |
p.S769N |
Missense |
19/28 |
- |
1 |
6-31934589-G-T |
c.2306G>T |
p.S769I |
Missense |
19/28 |
- |
3 |
6-31934597-G-A |
c.2314G>A |
p.E772K |
Missense |
19/28 |
- |
2 |
6-31934602-T-C |
c.2319T>C |
p.F773= |
Synonymous |
19/28 |
- |
1 |
6-31934604-C-T |
c.2321C>T |
p.P774L |
Missense |
19/28 |
- |
1 |
6-31934605-C-A |
c.2322C>A |
p.P774= |
Synonymous |
19/28 |
- |
1 |
6-31934605-C-G |
c.2322C>G |
p.P774= |
Synonymous |
19/28 |
- |
1 |
6-31934605-C-T |
c.2322C>T |
p.P774= |
Synonymous |
19/28 |
- |
1 |
6-31934608-C-T |
c.2325C>T |
p.S775= |
Synonymous |
19/28 |
- |
2 |
6-31934609-C-T |
c.2326C>T |
p.R776C |
Missense |
19/28 |
- |
2 |
6-31934610-G-GACTTCTGGGCTCAAGCAGTCTGTCTGCCTCAGCTT |
c.2327_2328insACTTCTGGGCTCAAGCAGTCTGTCTGCCTCAGCTT |
p.K777Lfs*25 |
Frameshift |
19/28 |
- |
1 |
6-31934610-G-T |
c.2327G>T |
p.R776L |
Missense |
19/28 |
- |
1 |
6-31934615-G-A |
c.2332G>A |
p.D778N |
Missense |
19/28 |
- |
1 |
6-31934615-G-C |
c.2332G>C |
p.D778H |
Missense |
19/28 |
- |
3 |
6-31934616-A-T |
c.2333A>T |
p.D778V |
Missense |
19/28 |
- |
1 |
6-31934616-GA-G |
c.2333del |
p.D778Afs*12 |
Frameshift |
19/28 |
- |
2 |
6-31934619-G-T |
c.2336G>T |
p.S779I |
Missense |
19/28 |
- |
1 |
6-31934621-A-G |
c.2338A>G |
p.K780E |
Missense |
19/28 |
- |
1 |
6-31934636-G-A |
c.2340+13G>A |
- |
IntronicSNV |
- |
19/27 |
1 |
6-31934779-A-G |
c.2341-2A>G |
- |
IntronicSNV |
- |
19/27 |
1 |
6-31934783-C-T |
c.2343C>T |
p.A781= |
Synonymous |
20/28 |
- |
1 |
6-31934787-G-A |
c.2347G>A |
p.E783K |
Missense |
20/28 |
- |
1 |
6-31934793-G-T |
c.2353G>T |
p.A785S |
Missense |
20/28 |
- |
1 |
6-31934795-C-A |
c.2355C>A |
p.A785= |
Synonymous |
20/28 |
- |
1 |
6-31934795-C-G |
c.2355C>G |
p.A785= |
Synonymous |
20/28 |
- |
1 |
6-31934795-C-T |
c.2355C>T |
p.A785= |
Synonymous |
20/28 |
- |
1 |
6-31934805-C-T |
c.2365C>T |
p.L789= |
Synonymous |
20/28 |
- |
2 |
6-31934807-G-A |
c.2367G>A |
p.L789= |
Synonymous |
20/28 |
- |
2 |
6-31934807-G-C |
c.2367G>C |
p.L789= |
Synonymous |
20/28 |
- |
2 |
6-31934807-G-T |
c.2367G>T |
p.L789= |
Synonymous |
20/28 |
- |
2 |
6-31934813-G-A |
c.2373G>A |
p.K791= |
Synonymous |
20/28 |
- |
1 |
6-31934831-G-A |
c.2391G>A |
p.E797= |
Synonymous |
20/28 |
- |
2 |
6-31934835-C-T |
c.2395C>T |
p.P799S |
Missense |
20/28 |
- |
1 |
6-31934837-T-A |
c.2397T>A |
p.P799= |
Synonymous |
20/28 |
- |
1 |
6-31934837-T-C |
c.2397T>C |
p.P799= |
Synonymous |
20/28 |
- |
2 |
6-31934837-T-G |
c.2397T>G |
p.P799= |
Synonymous |
20/28 |
- |
1 |
6-31934841-A-C |
c.2401A>C |
p.M801L |
Missense |
20/28 |
- |
1 |
6-31934841-A-G |
c.2401A>G |
p.M801V |
Missense |
20/28 |
- |
3 |
6-31934841-A-T |
c.2401A>T |
p.M801L |
Missense |
20/28 |
- |
1 |
6-31934847-G-A |
c.2407G>A |
p.G803S |
Missense |
20/28 |
- |
1 |
6-31934850-C-T |
c.2410C>T |
p.Q804* |
Nonsense |
20/28 |
- |
1 |
6-31934858-C-A |
c.2418C>A |
p.V806= |
Synonymous |
20/28 |
- |
1 |
6-31934858-C-G |
c.2418C>G |
p.V806= |
Synonymous |
20/28 |
- |
1 |
6-31934858-C-T |
c.2418C>T |
p.V806= |
Synonymous |
20/28 |
- |
1 |
6-31934865-C-G |
c.2425C>G |
p.P809A |
Missense |
20/28 |
- |
1 |
6-31934866-C-T |
c.2426C>T |
p.P809L |
Missense |
20/28 |
- |
1 |
6-31934872-A-C |
c.2432A>C |
p.Y811S |
Missense |
20/28 |
- |
1 |
6-31934878-G-C |
c.2438G>C |
p.S813T |
Missense |
20/28 |
- |
1 |
6-31934880-CTG-C |
c.2440_2441del |
p.W814Gfs*64 |
Frameshift |
20/28 |
- |
1 |
6-31934880-T-C |
c.2440T>C |
p.W814R |
Missense |
20/28 |
- |
1 |
6-31934881-G-A |
c.2441G>A |
p.W814* |
Nonsense |
20/28 |
- |
3 |
6-31934881-G-C |
c.2441G>C |
p.W814S |
Missense |
20/28 |
- |
2 |
6-31934881-G-T |
c.2441G>T |
p.W814L |
Missense |
20/28 |
- |
1 |
6-31934882-G-A |
c.2442G>A |
p.W814* |
Nonsense |
20/28 |
- |
4 |
6-31934882-G-C |
c.2442G>C |
p.W814C |
Missense |
20/28 |
- |
1 |
6-31934882-G-T |
c.2442G>T |
p.W814C |
Missense |
20/28 |
- |
1 |
6-31934880-TG-T |
c.2446del |
p.E816Rfs*3 |
Frameshift |
20/28 |
- |
4 |
6-31934886-G-A |
c.2446G>A |
p.E816K |
Missense |
20/28 |
- |
1 |
6-31934889-G-A |
c.2449G>A |
p.E817K |
Missense |
20/28 |
- |
1 |
6-31934889-G-C |
c.2449G>C |
p.E817Q |
Missense |
20/28 |
- |
1 |
6-31934892-C-G |
c.2452C>G |
p.L818V |
Missense |
20/28 |
- |
1 |
6-31934892-C-T |
c.2452C>T |
p.L818= |
Synonymous |
20/28 |
- |
1 |
6-31934894-G-A |
c.2454G>A |
p.L818= |
Synonymous |
20/28 |
- |
1 |
6-31934894-G-C |
c.2454G>C |
p.L818= |
Synonymous |
20/28 |
- |
1 |
6-31934894-G-T |
c.2454G>T |
p.L818= |
Synonymous |
20/28 |
- |
1 |
6-31934895-A-C |
c.2455A>C |
p.T819P |
Missense |
20/28 |
- |
1 |
6-31934904-C-G |
c.2464C>G |
p.Q822E |
Missense |
20/28 |
- |
1 |
6-31934908-CA-C |
c.2468del |
p.H823Pfs*2 |
Frameshift |
20/28 |
- |
1 |
6-31934915-C-T |
c.2475C>T |
p.I825= |
Synonymous |
20/28 |
- |
2 |
6-31934919-G-C |
c.2478+1G>C |
- |
IntronicSNV |
- |
20/27 |
1 |
6-31934920-T-A |
c.2478+2T>A |
- |
IntronicSNV |
- |
20/27 |
1 |
6-31935050-C-T |
c.2479C>T |
p.R827* |
Nonsense |
21/28 |
- |
2 |
6-31935051-G-A |
c.2480G>A |
p.R827Q |
Missense |
21/28 |
- |
1 |
6-31935053-C-T |
c.2482C>T |
p.R828C |
Missense |
21/28 |
- |
1 |
6-31935054-G-A |
c.2483G>A |
p.R828H |
Missense |
21/28 |
- |
6 |
6-31935066-CTG-C |
c.2498_2499del |
p.V833Efs*45 |
Frameshift |
21/28 |
- |
1 |
6-31935073-C-G |
c.2502C>G |
p.N834K |
Missense |
21/28 |
- |
1 |
6-31935073-C-T |
c.2502C>T |
p.N834= |
Synonymous |
21/28 |
- |
3 |
6-31935074-G-A |
c.2503G>A |
p.G835R |
Missense |
21/28 |
- |
3 |
6-31935074-G-C |
c.2503G>C |
p.G835R |
Missense |
21/28 |
- |
1 |
6-31935075-G-C |
c.2504G>C |
p.G835A |
Missense |
21/28 |
- |
1 |
6-31935083-T-C |
c.2512T>C |
p.S838P |
Missense |
21/28 |
- |
1 |
6-31935086-C-G |
c.2515C>G |
p.L839V |
Missense |
21/28 |
- |
1 |
6-31935090-C-A |
c.2519C>A |
p.S840* |
Nonsense |
21/28 |
- |
1 |
6-31935090-C-G |
c.2519C>G |
p.S840* |
Nonsense |
21/28 |
- |
1 |
6-31935092-G-A |
c.2521G>A |
p.A841T |
Missense |
21/28 |
- |
1 |
6-31935093-C-G |
c.2522C>G |
p.A841G |
Missense |
21/28 |
- |
1 |
6-31935095-GGA-TGG |
c.2524_2526delinsTGG |
p.G842W |
Missense |
21/28 |
- |
1 |
6-31935095-G-T |
c.2524G>T |
p.G842* |
Nonsense |
21/28 |
- |
1 |
6-31935096-G-T |
c.2525G>T |
p.G842V |
Missense |
21/28 |
- |
1 |
6-31935098-AG-TA |
c.2527_2528delinsTA |
p.R843* |
Nonsense |
21/28 |
- |
1 |
6-31935101-G-A |
c.2530G>A |
p.V844M |
Missense |
21/28 |
- |
1 |
6-31935122-G-A |
c.2551G>A |
p.E851K |
Missense |
21/28 |
- |
3 |
6-31935123-A-G |
c.2552A>G |
p.E851G |
Missense |
21/28 |
- |
1 |
6-31935124-G-T |
c.2553G>T |
p.E851D |
Missense |
21/28 |
- |
1 |
6-31935134-G-A |
c.2563G>A |
p.A855T |
Missense |
21/28 |
- |
3 |
6-31935135-C-A |
c.2564C>A |
p.A855E |
Missense |
21/28 |
- |
1 |
6-31935140-G-A |
c.2569G>A |
p.G857R |
Missense |
21/28 |
- |
1 |
6-31935143-AG-A |
c.2572del |
p.V858* |
Frameshift |
21/28 |
- |
3 |
6-31935145-G-A |
c.2574G>A |
p.V858= |
Synonymous |
21/28 |
- |
2 |
6-31935148-C-G |
c.2577C>G |
p.I859M |
Missense |
21/28 |
- |
1 |
6-31935153-A-T |
c.2582A>T |
p.Q861L |
Missense |
21/28 |
- |
2 |
6-31935276-C-T |
c.2583+122C>T |
- |
IntronicSNV |
- |
21/27 |
1 |
6-31935284-CCT-C |
c.2583+134_2583+135del |
- |
IntronicDeletion |
- |
21/27 |
1 |
6-31935311-C-T |
c.2583+157C>T |
- |
IntronicSNV |
- |
21/27 |
5 |
6-31935499-C-T |
c.2591C>T |
p.S864L |
Missense |
22/28 |
- |
4 |
6-31935507-A-G |
c.2599A>G |
p.T867A |
Missense |
22/28 |
- |
1 |
6-31935508-C-G |
c.2600C>G |
p.T867S |
Missense |
22/28 |
- |
1 |
6-31935521-C-A |
c.2613C>A |
p.F871L |
Missense |
22/28 |
- |
1 |
6-31935526-C-T |
c.2618C>T |
p.T873I |
Missense |
22/28 |
- |
1 |
6-31935527-CC-AA |
c.2619_2620delinsAA |
p.L874M |
Missense |
22/28 |
- |
1 |
6-31935528-C-A |
c.2620C>A |
p.L874M |
Missense |
22/28 |
- |
1 |
6-31935536-G-T |
c.2628G>T |
p.L876F |
Missense |
22/28 |
- |
1 |
6-31935537-T-G |
c.2629T>G |
p.C877G |
Missense |
22/28 |
- |
1 |
6-31935537-TG-AC |
c.2629_2630delinsAC |
p.C877T |
Missense |
22/28 |
- |
1 |
6-31935538-G-A |
c.2630G>A |
p.C877Y |
Missense |
22/28 |
- |
1 |
6-31935554-C-T |
c.2646C>T |
p.S882= |
Synonymous |
22/28 |
- |
1 |
6-31935558-G-C |
c.2650G>C |
p.D884H |
Missense |
22/28 |
- |
1 |
6-31935558-G-T |
c.2650G>T |
p.D884Y |
Missense |
22/28 |
- |
5 |
6-31935567-G-A |
c.2659G>A |
p.D887N |
Missense |
22/28 |
- |
19 |
6-31935567-G-T |
c.2659G>T |
p.D887Y |
Missense |
22/28 |
- |
5 |
6-31935569-C-G |
c.2661C>G |
p.D887E |
Missense |
22/28 |
- |
1 |
6-31935569-C-T |
c.2661C>T |
p.D887= |
Synonymous |
22/28 |
- |
2 |
6-31935570-A-G |
c.2662A>G |
p.R888G |
Missense |
22/28 |
- |
1 |
6-31935570-CAG-C |
c.2662_2663del |
p.R888Gfs*12 |
Frameshift |
22/28 |
- |
6 |
6-31935572-G-A |
c.2664G>A |
p.R888= |
Synonymous |
22/28 |
- |
3 |
6-31935577-C-T |
c.2669C>T |
p.P890L |
Missense |
22/28 |
- |
2 |
6-31935579-G-A |
c.2671G>A |
p.A891T |
Missense |
22/28 |
- |
1 |
6-31935579-G-C |
c.2671G>C |
p.A891P |
Missense |
22/28 |
- |
1 |
6-31935579-GC-TG |
c.2671_2672delinsTG |
p.A891C |
Missense |
22/28 |
- |
1 |
6-31935579-G-T |
c.2671G>T |
p.A891S |
Missense |
22/28 |
- |
1 |
6-31935585-G-T |
c.2677G>T |
p.A893S |
Missense |
22/28 |
- |
1 |
6-31935588-G-C |
c.2680G>C |
p.E894Q |
Missense |
22/28 |
- |
1 |
6-31935600-C-T |
c.2692C>T |
p.P898S |
Missense |
22/28 |
- |
1 |
6-31935606-G-T |
c.2698G>T |
p.D900Y |
Missense |
22/28 |
- |
1 |
6-31935611-C-T |
c.2703C>T |
p.L901= |
Synonymous |
22/28 |
- |
5 |
6-31935627-T-C |
c.2719T>C |
p.F907L |
Missense |
22/28 |
- |
1 |
6-31935629-C-A |
c.2721C>A |
p.F907L |
Missense |
22/28 |
- |
1 |
6-31935629-C-G |
c.2721C>G |
p.F907L |
Missense |
22/28 |
- |
1 |
6-31935631-T-C |
c.2723T>C |
p.L908P |
Missense |
22/28 |
- |
2 |
6-31935738-TG-AC |
c.2737_2738delinsAC |
p.C913T |
Missense |
23/28 |
- |
1 |
6-31935749-C-T |
c.2748C>T |
p.T916= |
Synonymous |
23/28 |
- |
1 |
6-31935750-G-A |
c.2749G>A |
p.V917M |
Missense |
23/28 |
- |
12 |
6-31935753-GTC-ATG |
c.2752_2754delinsATG |
p.V918M |
Missense |
23/28 |
- |
1 |
6-31935755-C-A |
c.2754C>A |
p.V918= |
Synonymous |
23/28 |
- |
1 |
6-31935755-C-G |
c.2754C>G |
p.V918= |
Synonymous |
23/28 |
- |
1 |
6-31935755-C-T |
c.2754C>T |
p.V918= |
Synonymous |
23/28 |
- |
1 |
6-31935762-C-T |
c.2761C>T |
p.Q921* |
Nonsense |
23/28 |
- |
1 |
6-31935765-C-G |
c.2764C>G |
p.P922A |
Missense |
23/28 |
- |
1 |
6-31935766-C-T |
c.2765C>T |
p.P922L |
Missense |
23/28 |
- |
1 |
6-31935772-A-G |
c.2771A>G |
p.D924G |
Missense |
23/28 |
- |
2 |
6-31935774-A-G |
c.2773A>G |
p.M925V |
Missense |
23/28 |
- |
1 |
6-31935780-G-A |
c.2779G>A |
p.A927T |
Missense |
23/28 |
- |
1 |
6-31935791-C-T |
c.2790C>T |
p.T930= |
Synonymous |
23/28 |
- |
3 |
6-31935801-C-T |
c.2800C>T |
p.R934W |
Missense |
23/28 |
- |
1 |
6-31935802-G-A |
c.2801G>A |
p.R934Q |
Missense |
23/28 |
- |
1 |
6-31935802-G-C |
c.2801G>C |
p.R934P |
Missense |
23/28 |
- |
1 |
6-31935813-G-T |
c.2812G>T |
p.E938* |
Nonsense |
23/28 |
- |
1 |
6-31935815-G-GT |
c.2814_2815insT |
p.K939* |
Nonsense |
23/28 |
- |
1 |
6-31935816-A-C |
c.2815A>C |
p.K939Q |
Missense |
23/28 |
- |
1 |
6-31935813-GAGA-G |
c.2816_2818del |
p.K939del |
InFrameDeletion |
23/28 |
- |
1 |
6-31935823-T-C |
c.2822T>C |
p.L941S |
Missense |
23/28 |
- |
1 |
6-31935824-G-T |
c.2823G>T |
p.L941F |
Missense |
23/28 |
- |
1 |
6-31935833-C-A |
c.2832C>A |
p.F944L |
Missense |
23/28 |
- |
1 |
6-31935832-T-C |
c.2831T>C |
p.F944S |
Missense |
23/28 |
- |
1 |
6-31935835-G-T |
c.2834G>T |
p.S945I |
Missense |
23/28 |
- |
1 |
6-31935836-C-T |
c.2835C>T |
p.S945= |
Synonymous |
23/28 |
- |
1 |
6-31935842-G-GC |
c.2842dup |
p.Q948Pfs*40 |
Frameshift |
23/28 |
- |
1 |
6-31935845-G-A |
c.2844G>A |
p.Q948= |
Synonymous |
23/28 |
- |
2 |
6-31935848-G-A |
c.2847G>A |
p.Q949= |
Synonymous |
23/28 |
- |
1 |
6-31935848-G-C |
c.2847G>C |
p.Q949H |
Missense |
23/28 |
- |
1 |
6-31935859-A-G |
c.2858A>G |
p.K953R |
Missense |
23/28 |
- |
1 |
6-31935928-G-A |
c.2858+69G>A |
- |
IntronicSNV |
- |
23/27 |
1 |
6-31935928-G-C |
c.2858+69G>C |
- |
IntronicSNV |
- |
23/27 |
2 |
6-31936057-G-T |
c.2859-48G>T |
- |
IntronicSNV |
- |
23/27 |
2 |
6-31936112-C-T |
c.2866C>T |
p.P956S |
Missense |
24/28 |
- |
1 |
6-31936116-C-T |
c.2870C>T |
p.P957L |
Missense |
24/28 |
- |
1 |
6-31936114-TC-T |
c.2872del |
p.A959Qfs*3 |
Frameshift |
24/28 |
- |
1 |
6-31936122-C-T |
c.2876C>T |
p.A959V |
Missense |
24/28 |
- |
1 |
6-31936124-G-T |
c.2878G>T |
p.A960S |
Missense |
24/28 |
- |
1 |
6-31936126-C-A |
c.2880C>A |
p.A960= |
Synonymous |
24/28 |
- |
1 |
6-31936126-C-G |
c.2880C>G |
p.A960= |
Synonymous |
24/28 |
- |
1 |
6-31936126-C-T |
c.2880C>T |
p.A960= |
Synonymous |
24/28 |
- |
2 |
6-31936127-G-T |
c.2881G>T |
p.V961L |
Missense |
24/28 |
- |
1 |
6-31936130-AC-TG |
c.2884_2885delinsTG |
p.T962C |
Missense |
24/28 |
- |
1 |
6-31936132-C-A |
c.2886C>A |
p.T962= |
Synonymous |
24/28 |
- |
1 |
6-31936132-C-G |
c.2886C>G |
p.T962= |
Synonymous |
24/28 |
- |
1 |
6-31936132-C-T |
c.2886C>T |
p.T962= |
Synonymous |
24/28 |
- |
1 |
6-31936134-C-T |
c.2888C>T |
p.T963I |
Missense |
24/28 |
- |
1 |
6-31936155-G-A |
c.2909G>A |
p.R970H |
Missense |
24/28 |
- |
3 |
6-31936158-T-C |
c.2912T>C |
p.L971P |
Missense |
24/28 |
- |
2 |
6-31936158-T-G |
c.2912T>G |
p.L971R |
Missense |
24/28 |
- |
1 |
6-31936161-C-T |
c.2915C>T |
p.A972V |
Missense |
24/28 |
- |
1 |
6-31936166-G-C |
c.2920G>C |
p.A974P |
Missense |
24/28 |
- |
1 |
6-31936177-C-A |
c.2931C>A |
p.A977= |
Synonymous |
24/28 |
- |
1 |
6-31936177-C-G |
c.2931C>G |
p.A977= |
Synonymous |
24/28 |
- |
1 |
6-31936177-C-T |
c.2931C>T |
p.A977= |
Synonymous |
24/28 |
- |
1 |
6-31936178-G-A |
c.2932G>A |
p.G978R |
Missense |
24/28 |
- |
3 |
6-31936178-G-C |
c.2932G>C |
p.G978R |
Missense |
24/28 |
- |
1 |
6-31936185-C-A |
c.2939C>A |
p.P980H |
Missense |
24/28 |
- |
1 |
6-31936192-C-T |
c.2946C>T |
p.L982= |
Synonymous |
24/28 |
- |
2 |
6-31936193-G-A |
c.2947G>A |
p.D983N |
Missense |
24/28 |
- |
1 |
6-31936199-G-A |
c.2953G>A |
p.V985I |
Missense |
24/28 |
- |
1 |
6-31936203-A-G |
c.2957A>G |
p.N986S |
Missense |
24/28 |
- |
3 |
6-31936205-G-C |
c.2959G>C |
p.D987H |
Missense |
24/28 |
- |
1 |
6-31936217-A-C |
c.2971A>C |
p.K991Q |
Missense |
24/28 |
- |
1 |
6-31936219-A-G |
c.2973A>G |
p.K991= |
Synonymous |
24/28 |
- |
1 |
6-31936220-G-T |
c.2974G>T |
p.D992Y |
Missense |
24/28 |
- |
1 |
6-31936244-C-G |
c.2998C>G |
p.L1000V |
Missense |
24/28 |
- |
1 |
6-31936245-T-A |
c.2999T>A |
p.L1000H |
Missense |
24/28 |
- |
1 |
6-31936246-C-A |
c.3000C>A |
p.L1000= |
Synonymous |
24/28 |
- |
1 |
6-31936246-C-G |
c.3000C>G |
p.L1000= |
Synonymous |
24/28 |
- |
1 |
6-31936246-C-T |
c.3000C>T |
p.L1000= |
Synonymous |
24/28 |
- |
1 |
6-31936247-C-T |
c.3001C>T |
p.R1001W |
Missense |
24/28 |
- |
2 |
6-31936253-C-A |
c.3007C>A |
p.R1003= |
Synonymous |
24/28 |
- |
1 |
6-31936255-G-A |
c.3009G>A |
p.R1003= |
Synonymous |
24/28 |
- |
1 |
6-31936255-G-C |
c.3009G>C |
p.R1003= |
Synonymous |
24/28 |
- |
1 |
6-31936255-G-T |
c.3009G>T |
p.R1003= |
Synonymous |
24/28 |
- |
1 |
6-31936254-G-A |
c.3008G>A |
p.R1003Q |
Missense |
24/28 |
- |
3 |
6-31936258-G-A |
c.3012G>A |
p.K1004= |
Synonymous |
24/28 |
- |
1 |
6-31936260-T-C |
c.3014T>C |
p.L1005P |
Missense |
24/28 |
- |
2 |
6-31936273-C-T |
c.3027C>T |
p.I1009= |
Synonymous |
24/28 |
- |
1 |
6-31936275-A-G |
c.3029A>G |
p.Q1010R |
Missense |
24/28 |
- |
1 |
6-31936275-CAGGG-C |
c.3029_3032del |
p.Q1010Rfs*15 |
Frameshift |
24/28 |
- |
1 |
6-31936276-G-C |
c.3030G>C |
p.Q1010H |
Missense |
24/28 |
- |
1 |
6-31936280-G-A |
c.3034G>A |
p.A1012T |
Missense |
24/28 |
- |
1 |
6-31936287-G-A |
c.3041G>A |
p.C1014Y |
Missense |
24/28 |
- |
1 |
6-31936299-C-T |
c.3053C>T |
p.P1018L |
Missense |
24/28 |
- |
1 |
6-31936301-C-T |
c.3055C>T |
p.R1019C |
Missense |
24/28 |
- |
1 |
6-31936303-T-G |
c.3057T>G |
p.R1019= |
Synonymous |
24/28 |
- |
1 |
6-31936310-G-A |
c.3064G>A |
p.A1022T |
Missense |
24/28 |
- |
1 |
6-31936386-C-T |
c.3069+71C>T |
- |
IntronicSNV |
- |
24/27 |
1 |
6-31936466-C-A |
c.3073C>A |
p.L1025M |
Missense |
25/28 |
- |
1 |
6-31936467-T-C |
c.3074T>C |
p.L1025P |
Missense |
25/28 |
- |
1 |
6-31936475-C-T |
c.3082C>T |
p.R1028W |
Missense |
25/28 |
- |
2 |
6-31936481-CG-GC |
c.3088_3089delinsGC |
p.R1030A |
Missense |
25/28 |
- |
1 |
6-31936481-C-T |
c.3088C>T |
p.R1030* |
Nonsense |
25/28 |
- |
2 |
6-31936482-G-A |
c.3089G>A |
p.R1030Q |
Missense |
25/28 |
- |
1 |
6-31936487-C-T |
c.3094C>T |
p.Q1032* |
Nonsense |
25/28 |
- |
4 |
6-31936492-A-T |
c.3099A>T |
p.I1033= |
Synonymous |
25/28 |
- |
1 |
6-31936493-ACAG-A |
c.3100_3102del |
p.Q1034del |
InFrameDeletion |
25/28 |
- |
1 |
6-31936493-CAGA-C |
c.3103_3105del |
p.K1035del |
InFrameDeletion |
25/28 |
- |
3 |
6-31936499-G-A |
c.3106G>A |
p.E1036K |
Missense |
25/28 |
- |
1 |
6-31936504-GGAGCGGCTGCGCTTCCTACTGTCGGATCA-G |
c.3113_3141del |
p.E1038Vfs*7 |
Frameshift |
25/28 |
- |
3 |
6-31936509-G-A |
c.3116G>A |
p.R1039Q |
Missense |
25/28 |
- |
1 |
6-31936512-T-C |
c.3119T>C |
p.L1040P |
Missense |
25/28 |
- |
1 |
6-31936514-C-T |
c.3121C>T |
p.R1041C |
Missense |
25/28 |
- |
4 |
6-31936515-G-A |
c.3122G>A |
p.R1041H |
Missense |
25/28 |
- |
2 |
6-31936515-G-C |
c.3122G>C |
p.R1041P |
Missense |
25/28 |
- |
1 |
6-31936515-GC-AA |
c.3122_3123delinsAA |
p.R1041Q |
Missense |
25/28 |
- |
1 |
6-31936518-T-C |
c.3125T>C |
p.F1042S |
Missense |
25/28 |
- |
1 |
6-31936519-C-T |
c.3126C>T |
p.F1042= |
Synonymous |
25/28 |
- |
4 |
6-31936523-CT-AC |
c.3130_3131delinsAC |
p.L1044T |
Missense |
25/28 |
- |
1 |
6-31936527-C-G |
c.3134C>G |
p.S1045W |
Missense |
25/28 |
- |
1 |
6-31936527-C-T |
c.3134C>T |
p.S1045L |
Missense |
25/28 |
- |
1 |
6-31936528-G-A |
c.3135G>A |
p.S1045= |
Synonymous |
25/28 |
- |
4 |
6-31936528-G-C |
c.3135G>C |
p.S1045= |
Synonymous |
25/28 |
- |
3 |
6-31936528-G-T |
c.3135G>T |
p.S1045= |
Synonymous |
25/28 |
- |
3 |
6-31936532-C-T |
c.3139C>T |
p.Q1047* |
Nonsense |
25/28 |
- |
1 |
6-31936540-G-A |
c.3147G>A |
p.L1049= |
Synonymous |
25/28 |
- |
1 |
6-31936551-C-G |
c.3158C>G |
p.P1053R |
Missense |
25/28 |
- |
1 |
6-31936553-G-C |
c.3160G>C |
p.E1054Q |
Missense |
25/28 |
- |
1 |
6-31936554-A-G |
c.3161A>G |
p.E1054G |
Missense |
25/28 |
- |
1 |
6-31936565-C-T |
c.3172C>T |
p.R1058* |
Nonsense |
25/28 |
- |
1 |
6-31936566-G-A |
c.3173G>A |
p.R1058Q |
Missense |
25/28 |
- |
1 |
6-31936585-A-T |
c.3180+12A>T |
- |
IntronicSNV |
- |
25/27 |
1 |
6-31936597-A-T |
c.3180+24A>T |
- |
IntronicSNV |
- |
25/27 |
1 |
6-31936648-G-C |
c.3181G>C |
p.V1061L |
Missense |
26/28 |
- |
1 |
6-31936648-G-T |
c.3181G>T |
p.V1061L |
Missense |
26/28 |
- |
1 |
6-31936652-T-C |
c.3185T>C |
p.L1062P |
Missense |
26/28 |
- |
1 |
6-31936654-C-A |
c.3187C>A |
p.R1063= |
Synonymous |
26/28 |
- |
1 |
6-31936654-C-T |
c.3187C>T |
p.R1063* |
Nonsense |
26/28 |
- |
9 |
6-31936655-G-T |
c.3188G>T |
p.R1063L |
Missense |
26/28 |
- |
1 |
6-31936666-T-C |
c.3199T>C |
p.Y1067H |
Missense |
26/28 |
- |
1 |
6-31936667-A-G |
c.3200A>G |
p.Y1067C |
Missense |
26/28 |
- |
1 |
6-31936668-T-C |
c.3201T>C |
p.Y1067= |
Synonymous |
26/28 |
- |
19 |
6-31936674-C-A |
c.3207C>A |
p.D1069E |
Missense |
26/28 |
- |
2 |
6-31936674-C-G |
c.3207C>G |
p.D1069E |
Missense |
26/28 |
- |
2 |
6-31936675-G-A |
c.3208G>A |
p.E1070K |
Missense |
26/28 |
- |
1 |
6-31936679-C-T |
c.3212C>T |
p.A1071V |
Missense |
26/28 |
- |
28 |
6-31936680-G-A |
c.3213G>A |
p.A1071= |
Synonymous |
26/28 |
- |
4 |
6-31936680-G-C |
c.3213G>C |
p.A1071= |
Synonymous |
26/28 |
- |
3 |
6-31936680-G-T |
c.3213G>T |
p.A1071= |
Synonymous |
26/28 |
- |
3 |
6-31936692-G-A |
c.3225G>A |
p.K1075= |
Synonymous |
26/28 |
- |
1 |
6-31936697-C-A |
c.3230C>A |
p.A1077E |
Missense |
26/28 |
- |
1 |
6-31936699-GGG-AGC |
c.3232_3234delinsAGC |
p.G1078S |
Missense |
26/28 |
- |
1 |
6-31936700-G-C |
c.3233G>C |
p.G1078A |
Missense |
26/28 |
- |
1 |
6-31936702-C-T |
c.3235C>T |
p.R1079W |
Missense |
26/28 |
- |
1 |
6-31936703-G-A |
c.3236G>A |
p.R1079Q |
Missense |
26/28 |
- |
6 |
6-31936703-G-T |
c.3236G>T |
p.R1079L |
Missense |
26/28 |
- |
1 |
6-31936714-G-A |
c.3247G>A |
p.A1083T |
Missense |
26/28 |
- |
1 |
6-31936714-G-C |
c.3247G>C |
p.A1083P |
Missense |
26/28 |
- |
1 |
6-31936718-T-C |
c.3251T>C |
p.M1084T |
Missense |
26/28 |
- |
2 |
6-31936719-G-A |
c.3252G>A |
p.M1084I |
Missense |
26/28 |
- |
1 |
6-31936721-G-A |
c.3254G>A |
p.S1085N |
Missense |
26/28 |
- |
1 |
6-31936723-A-G |
c.3256A>G |
p.S1086G |
Missense |
26/28 |
- |
1 |
6-31936729-G-T |
c.3262G>T |
p.E1088* |
Nonsense |
26/28 |
- |
3 |
6-31936730-A-C |
c.3263A>C |
p.E1088A |
Missense |
26/28 |
- |
1 |
6-31936732-T-C |
c.3265T>C |
p.L1089= |
Synonymous |
26/28 |
- |
1 |
6-31936746-G-A |
c.3279G>A |
p.E1093= |
Synonymous |
26/28 |
- |
1 |
6-31936746-G-C |
c.3279G>C |
p.E1093D |
Missense |
26/28 |
- |
1 |
6-31936756-G-A |
c.3289G>A |
p.D1097N |
Missense |
26/28 |
- |
1 |
6-31936759-A-G |
c.3292A>G |
p.N1098D |
Missense |
26/28 |
- |
1 |
6-31936766-T-C |
c.3299T>C |
p.L1100P |
Missense |
26/28 |
- |
2 |
6-31936777-C-T |
c.3310C>T |
p.R1104W |
Missense |
26/28 |
- |
3 |
6-31936780-C-T |
c.3313C>T |
p.P1105S |
Missense |
26/28 |
- |
1 |
6-31936795-G-C |
c.3328G>C |
p.A1110P |
Missense |
26/28 |
- |
4 |
6-31936802-CTCTCTGGCCTGGTCTGCCAG-C |
c.3335_3354del |
p.L1112Qfs*29 |
Frameshift |
26/28 |
- |
1 |
6-31936805-C-T |
c.3338C>T |
p.S1113F |
Missense |
26/28 |
- |
1 |
6-31936808-G-C |
c.3341G>C |
p.G1114A |
Missense |
26/28 |
- |
1 |
6-31936816-T-C |
c.3349T>C |
p.C1117R |
Missense |
26/28 |
- |
1 |
6-31936817-G-C |
c.3350G>C |
p.C1117S |
Missense |
26/28 |
- |
1 |
6-31936820-A-G |
c.3353A>G |
p.Q1118R |
Missense |
26/28 |
- |
1 |
6-31936822-A-T |
c.3355A>T |
p.S1119C |
Missense |
26/28 |
- |
1 |
6-31936833-C-T |
c.3366C>T |
p.D1122= |
Synonymous |
26/28 |
- |
1 |
6-31936834-G-A |
c.3367G>A |
p.A1123T |
Missense |
26/28 |
- |
1 |
6-31936838-GG-AC |
c.3371_3372delinsAC |
p.G1124D |
Missense |
26/28 |
- |
1 |
6-31936849-C-T |
c.3382C>T |
p.P1128S |
Missense |
26/28 |
- |
2 |
6-31936855-AC-A |
c.3391del |
p.L1131Sfs*5 |
Frameshift |
26/28 |
- |
2 |
6-31936859-T-C |
c.3392T>C |
p.L1131P |
Missense |
26/28 |
- |
1 |
6-31937037-C-T |
c.3400-20C>T |
- |
IntronicSNV |
- |
26/27 |
2 |
6-31937057-G-A |
c.3400G>A |
p.G1134R |
Missense |
27/28 |
- |
2 |
6-31937057-G-C |
c.3400G>C |
p.G1134R |
Missense |
27/28 |
- |
2 |
6-31937060-A-G |
c.3403A>G |
p.I1135V |
Missense |
27/28 |
- |
1 |
6-31937061-T-C |
c.3404T>C |
p.I1135T |
Missense |
27/28 |
- |
2 |
6-31937063-G-T |
c.3406G>T |
p.E1136* |
Nonsense |
27/28 |
- |
1 |
6-31937064-A-G |
c.3407A>G |
p.E1136G |
Missense |
27/28 |
- |
1 |
6-31937066-C-T |
c.3409C>T |
p.R1137C |
Missense |
27/28 |
- |
1 |
6-31937067-G-A |
c.3410G>A |
p.R1137H |
Missense |
27/28 |
- |
1 |
6-31937072-CG-TA |
c.3415_3416delinsTA |
p.R1139* |
Nonsense |
27/28 |
- |
1 |
6-31937072-C-T |
c.3415C>T |
p.R1139W |
Missense |
27/28 |
- |
2 |
6-31937073-G-A |
c.3416G>A |
p.R1139Q |
Missense |
27/28 |
- |
2 |
6-31937073-GG-AT |
c.3416_3417delinsAT |
p.R1139H |
Missense |
27/28 |
- |
1 |
6-31937087-C-T |
c.3430C>T |
p.R1144W |
Missense |
27/28 |
- |
3 |
6-31937088-G-A |
c.3431G>A |
p.R1144Q |
Missense |
27/28 |
- |
1 |
6-31937088-G-T |
c.3431G>T |
p.R1144L |
Missense |
27/28 |
- |
1 |
6-31937092-T-C |
c.3435T>C |
p.I1145= |
Synonymous |
27/28 |
- |
1 |
6-31937093-G-T |
c.3436G>T |
p.G1146C |
Missense |
27/28 |
- |
1 |
6-31937096-G-A |
c.3439G>A |
p.E1147K |
Missense |
27/28 |
- |
1 |
6-31937105-G-A |
c.3448G>A |
p.V1150M |
Missense |
27/28 |
- |
1 |
6-31937106-T-G |
c.3449T>G |
p.V1150G |
Missense |
27/28 |
- |
1 |
6-31937107-G-T |
c.3450G>T |
p.V1150= |
Synonymous |
27/28 |
- |
1 |
6-31937109-C-G |
c.3452C>G |
p.A1151G |
Missense |
27/28 |
- |
1 |
6-31937114-G-C |
c.3457G>C |
p.G1153R |
Missense |
27/28 |
- |
2 |
6-31937115-G-C |
c.3458G>C |
p.G1153A |
Missense |
27/28 |
- |
1 |
6-31937123-C-T |
c.3466C>T |
p.Q1156* |
Nonsense |
27/28 |
- |
1 |
6-31937124-A-T |
c.3467A>T |
p.Q1156L |
Missense |
27/28 |
- |
1 |
6-31937127-C-T |
c.3470C>T |
p.T1157M |
Missense |
27/28 |
- |
4 |
6-31937130-T-G |
c.3473T>G |
p.V1158G |
Missense |
27/28 |
- |
1 |
6-31937146-G-A |
c.3489G>A |
p.G1163= |
Synonymous |
27/28 |
- |
1 |
6-31937142-T-TG |
c.3490dup |
p.E1164Gfs*8 |
Frameshift |
27/28 |
- |
1 |
6-31937152-G-A |
c.3495G>A |
p.L1165= |
Synonymous |
27/28 |
- |
2 |
6-31937154-A-G |
c.3497A>G |
p.N1166S |
Missense |
27/28 |
- |
1 |
6-31937160-G-A |
c.3503G>A |
p.G1168E |
Missense |
27/28 |
- |
1 |
6-31937164-G-T |
c.3507G>T |
p.L1169= |
Synonymous |
27/28 |
- |
1 |
6-31937165-G-GT |
c.3510dup |
p.E1171* |
Nonsense |
27/28 |
- |
1 |
6-31937167-T-A |
c.3510T>A |
p.V1170= |
Synonymous |
27/28 |
- |
1 |
6-31937168-G-A |
c.3511G>A |
p.E1171K |
Missense |
27/28 |
- |
1 |
6-31937171-G-A |
c.3514G>A |
p.V1172I |
Missense |
27/28 |
- |
1 |
6-31937172-T-C |
c.3515T>C |
p.V1172A |
Missense |
27/28 |
- |
2 |
6-31937176-A-G |
c.3519A>G |
p.V1173= |
Synonymous |
27/28 |
- |
1 |
6-31937178-A-G |
c.3521A>G |
p.Y1174C |
Missense |
27/28 |
- |
2 |
6-31937183-T-A |
c.3526T>A |
p.W1176R |
Missense |
27/28 |
- |
1 |
6-31937183-T-C |
c.3526T>C |
p.W1176R |
Missense |
27/28 |
- |
1 |
6-31937187-C-G |
c.3530C>G |
p.A1177G |
Missense |
27/28 |
- |
1 |
6-31937189-CGG-TGT |
c.3532_3534delinsTGT |
p.R1178C |
Missense |
27/28 |
- |
1 |
6-31937189-C-T |
c.3532C>T |
p.R1178W |
Missense |
27/28 |
- |
6 |
6-31937190-G-C |
c.3533G>C |
p.R1178P |
Missense |
27/28 |
- |
1 |
6-31937204-A-G |
c.3540+7A>G |
- |
IntronicSNV |
- |
27/27 |
1 |
6-31937292-C-T |
c.3541C>T |
p.P1181S |
Missense |
28/28 |
- |
1 |
6-31937294-C-T |
c.3543C>T |
p.P1181= |
Synonymous |
28/28 |
- |
1 |
6-31937301-G-A |
c.3550G>A |
p.E1184K |
Missense |
28/28 |
- |
1 |
6-31937307-G-A |
c.3556G>A |
p.A1186T |
Missense |
28/28 |
- |
1 |
6-31937310-G-A |
c.3559G>A |
p.G1187R |
Missense |
28/28 |
- |
2 |
6-31937309-AGGGCTCTCAGGGACCCCTGAG-A |
c.3561_3581del |
p.S1189_L1195del |
InFrameDeletion |
28/28 |
- |
8 |
6-31937314-T-C |
c.3563T>C |
p.L1188P |
Missense |
28/28 |
- |
1 |
6-31937316-CTCAGGGACCCCTGAGGGCCTG-C |
c.3565_3585del |
p.S1189_L1195del |
InFrameDeletion |
28/28 |
- |
1 |
6-31937317-C-G |
c.3566C>G |
p.S1189* |
Nonsense |
28/28 |
- |
1 |
6-31937317-C-T |
c.3566C>T |
p.S1189L |
Missense |
28/28 |
- |
1 |
6-31937319-G-A |
c.3568G>A |
p.G1190R |
Missense |
28/28 |
- |
1 |
6-31937322-A-G |
c.3571A>G |
p.T1191A |
Missense |
28/28 |
- |
1 |
6-31937323-C-T |
c.3572C>T |
p.T1191I |
Missense |
28/28 |
- |
1 |
6-31937322-AC-A |
c.3575del |
p.P1192Lfs*26 |
Frameshift |
28/28 |
- |
1 |
6-31937328-G-A |
c.3577G>A |
p.E1193K |
Missense |
28/28 |
- |
1 |
6-31937328-G-C |
c.3577G>C |
p.E1193Q |
Missense |
28/28 |
- |
1 |
6-31937331-G-A |
c.3580G>A |
p.G1194S |
Missense |
28/28 |
- |
1 |
6-31937332-G-C |
c.3581G>C |
p.G1194A |
Missense |
28/28 |
- |
1 |
6-31937334-CCTG-C |
c.3583_3585del |
p.L1195del |
InFrameDeletion |
28/28 |
- |
5 |
6-31937340-G-A |
c.3589G>A |
p.V1197I |
Missense |
28/28 |
- |
1 |
6-31937342-C-T |
c.3591C>T |
p.V1197= |
Synonymous |
28/28 |
- |
1 |
6-31937343-C-T |
c.3592C>T |
p.R1198C |
Missense |
28/28 |
- |
2 |
6-31937344-G-A |
c.3593G>A |
p.R1198H |
Missense |
28/28 |
- |
3 |
6-31937353-CAGCGCCTG-C |
c.3602_3609del |
p.Q1201Rfs*2 |
Frameshift |
28/28 |
- |
1 |
6-31937355-C-T |
c.3604C>T |
p.R1202C |
Missense |
28/28 |
- |
1 |
6-31937356-G-A |
c.3605G>A |
p.R1202H |
Missense |
28/28 |
- |
5 |
6-31937361-G-A |
c.3610G>A |
p.A1204T |
Missense |
28/28 |
- |
1 |
6-31937372-T-C |
c.3621T>C |
p.C1207= |
Synonymous |
28/28 |
- |
1 |
6-31937373-C-T |
c.3622C>T |
p.R1208C |
Missense |
28/28 |
- |
3 |
6-31937374-G-A |
c.3623G>A |
p.R1208H |
Missense |
28/28 |
- |
3 |
6-31937382-C-A |
c.3631C>A |
p.R1211= |
Synonymous |
28/28 |
- |
1 |
6-31937382-C-T |
c.3631C>T |
p.R1211W |
Missense |
28/28 |
- |
2 |
6-31937384-G-A |
c.3633G>A |
p.R1211= |
Synonymous |
28/28 |
- |
1 |
6-31937384-G-C |
c.3633G>C |
p.R1211= |
Synonymous |
28/28 |
- |
1 |
6-31937384-G-T |
c.3633G>T |
p.R1211= |
Synonymous |
28/28 |
- |
1 |
6-31937383-G-A |
c.3632G>A |
p.R1211Q |
Missense |
28/28 |
- |
1 |
6-31937383-G-C |
c.3632G>C |
p.R1211P |
Missense |
28/28 |
- |
1 |
6-31937382-C-CG |
c.3637dup |
p.A1213Gfs*? |
Frameshift |
28/28 |
- |
2 |
6-31937382-CG-C |
c.3637del |
p.A1213Qfs*5 |
Frameshift |
28/28 |
- |
1 |
6-31937388-G-A |
c.3637G>A |
p.A1213T |
Missense |
28/28 |
- |
1 |
6-31937389-C-G |
c.3638C>G |
p.A1213G |
Missense |
28/28 |
- |
1 |
6-31937391-G-A |
c.3640G>A |
p.A1214T |
Missense |
28/28 |
- |
2 |
6-31937391-GC-TG |
c.3640_3641delinsTG |
p.A1214C |
Missense |
28/28 |
- |
1 |
6-31937394-C-T |
c.3643C>T |
p.R1215C |
Missense |
28/28 |
- |
1 |
6-31937395-G-A |
c.3644G>A |
p.R1215H |
Missense |
28/28 |
- |
2 |
6-31937395-G-T |
c.3644G>T |
p.R1215L |
Missense |
28/28 |
- |
1 |
6-31937403-G-A |
c.3652G>A |
p.G1218R |
Missense |
28/28 |
- |
1 |
6-31937406-G-T |
c.3655G>T |
p.E1219* |
Nonsense |
28/28 |
- |
1 |
6-31937412-G-A |
c.3661G>A |
p.V1221M |
Missense |
28/28 |
- |
1 |
6-31937415-C-T |
c.3664C>T |
p.L1222= |
Synonymous |
28/28 |
- |
1 |
6-31937417-G-A |
c.3666G>A |
p.L1222= |
Synonymous |
28/28 |
- |
2 |
6-31937417-G-C |
c.3666G>C |
p.L1222= |
Synonymous |
28/28 |
- |
1 |
6-31937417-G-T |
c.3666G>T |
p.L1222= |
Synonymous |
28/28 |
- |
1 |
6-31937418-G-T |
c.3667G>T |
p.G1223C |
Missense |
28/28 |
- |
1 |
6-31937426-G-C |
c.3675G>C |
p.K1225N |
Missense |
28/28 |
- |
1 |
6-31937436-G-A |
c.3685G>A |
p.A1229T |
Missense |
28/28 |
- |
1 |
6-31937437-C-T |
c.3686C>T |
p.A1229V |
Missense |
28/28 |
- |
2 |
6-31937448-C-G |
c.3697C>G |
p.L1233V |
Missense |
28/28 |
- |
1 |
6-31937448-C-T |
c.3697C>T |
p.L1233= |
Synonymous |
28/28 |
- |
1 |
6-31937451-CG-TA |
c.3700_3701delinsTA |
p.R1234* |
Nonsense |
28/28 |
- |
1 |
6-31937451-C-T |
c.3700C>T |
p.R1234W |
Missense |
28/28 |
- |
2 |
6-31937452-G-A |
c.3701G>A |
p.R1234Q |
Missense |
28/28 |
- |
3 |
6-31937455-G-A |
c.3704G>A |
p.R1235Q |
Missense |
28/28 |
- |
2 |
6-31937457-G-A |
c.3706G>A |
p.D1236N |
Missense |
28/28 |
- |
1 |
6-31937462-C-A |
c.3711C>A |
p.I1237= |
Synonymous |
28/28 |
- |
1 |
6-31937462-C-T |
c.3711C>T |
p.I1237= |
Synonymous |
28/28 |
- |
2 |
6-31937463-G-A |
c.3712G>A |
p.V1238I |
Missense |
28/28 |
- |
1 |
6-31937464-T-G |
c.3713T>G |
p.V1238G |
Missense |
28/28 |
- |
3 |
6-31937468-T-A |
c.3717T>A |
p.F1239L |
Missense |
28/28 |
- |
1 |
6-31937469-G-A |
c.3718G>A |
p.A1240T |
Missense |
28/28 |
- |
2 |
6-31937469-G-T |
c.3718G>T |
p.A1240S |
Missense |
28/28 |
- |
1 |
6-31937470-C-T |
c.3719C>T |
p.A1240V |
Missense |
28/28 |
- |
2 |
6-31937470-CGGCCA-C |
c.3721_3725del |
p.A1241Pfs*? |
Frameshift |
28/28 |
- |
1 |
6-31937486-C-A |
c.3735C>A |
p.T1245= |
Synonymous |
28/28 |
- |
1 |
6-31937486-C-G |
c.3735C>G |
p.T1245= |
Synonymous |
28/28 |
- |
1 |
6-31937486-C-T |
c.3735C>T |
p.T1245= |
Synonymous |
28/28 |
- |
1 |
6-31937487-C-T |
c.3736C>T |
p.Q1246* |
Nonsense |
28/28 |
- |
1 |
6-31937511-T-C |
c.*19T>C |
- |
3-UTRSNV |
28/28 |
- |
3 |