X-107683109-G-C |
c.-247G>C |
- |
5-UTRSNV |
1/53 |
- |
2 |
X-107683109-G-T |
c.-247G>T |
- |
5-UTRSNV |
1/53 |
- |
2 |
X-107683356-A-C |
c.1A>C |
p.M1? |
Missense |
1/53 |
- |
1 |
X-107683356-A-G |
c.1A>G |
p.M1? |
Missense |
1/53 |
- |
1 |
X-107683357-ATG-A |
c.2_3del |
p.M1? |
Frameshift |
1/53 |
- |
1 |
X-107683357-T-A |
c.2T>A |
p.M1? |
Missense |
1/53 |
- |
1 |
X-107683358-G-A |
c.3G>A |
p.M1? |
Missense |
1/53 |
- |
3 |
X-107683358-G-C |
c.3G>C |
p.M1? |
Missense |
1/53 |
- |
2 |
X-107683358-G-T |
c.3G>T |
p.M1? |
Missense |
1/53 |
- |
2 |
X-107683359-A-G |
c.4A>G |
p.K2E |
Missense |
1/53 |
- |
2 |
X-107683361-A-G |
c.6A>G |
p.K2= |
Synonymous |
1/53 |
- |
1 |
X-107683362-C-G |
c.7C>G |
p.L3V |
Missense |
1/53 |
- |
1 |
X-107683362-C-T |
c.7C>T |
p.L3= |
Synonymous |
1/53 |
- |
2 |
X-107683364-G-A |
c.9G>A |
p.L3= |
Synonymous |
1/53 |
- |
1 |
X-107683364-G-C |
c.9G>C |
p.L3= |
Synonymous |
1/53 |
- |
1 |
X-107683364-G-T |
c.9G>T |
p.L3= |
Synonymous |
1/53 |
- |
1 |
X-107683365-C-T |
c.10C>T |
p.R4C |
Missense |
1/53 |
- |
1 |
X-107683366-GT-AA |
c.11_12delinsAA |
p.R4Q |
Missense |
1/53 |
- |
1 |
X-107683367-T-A |
c.12T>A |
p.R4= |
Synonymous |
1/53 |
- |
1 |
X-107683367-T-C |
c.12T>C |
p.R4= |
Synonymous |
1/53 |
- |
1 |
X-107683367-T-G |
c.12T>G |
p.R4= |
Synonymous |
1/53 |
- |
1 |
X-107683368-G-T |
c.13G>T |
p.G5* |
Nonsense |
1/53 |
- |
3 |
X-107683376-C-T |
c.21C>T |
p.S7= |
Synonymous |
1/53 |
- |
1 |
X-107683380-G-C |
c.25G>C |
p.A9P |
Missense |
1/53 |
- |
1 |
X-107683381-C-A |
c.26C>A |
p.A9D |
Missense |
1/53 |
- |
1 |
X-107683382-T-A |
c.27T>A |
p.A9= |
Synonymous |
1/53 |
- |
1 |
X-107683382-T-C |
c.27T>C |
p.A9= |
Synonymous |
1/53 |
- |
1 |
X-107683382-T-G |
c.27T>G |
p.A9= |
Synonymous |
1/53 |
- |
1 |
X-107683383-GCC-ATG |
c.28_30delinsATG |
p.A10M |
Missense |
1/53 |
- |
1 |
X-107683383-GC-TG |
c.28_29delinsTG |
p.A10C |
Missense |
1/53 |
- |
2 |
X-107683384-CC-AG |
c.29_30delinsAG |
p.A10E |
Missense |
1/53 |
- |
1 |
X-107683384-C-G |
c.29C>G |
p.A10G |
Missense |
1/53 |
- |
2 |
X-107683385-C-A |
c.30C>A |
p.A10= |
Synonymous |
1/53 |
- |
2 |
X-107683385-C-G |
c.30C>G |
p.A10= |
Synonymous |
1/53 |
- |
2 |
X-107683385-C-T |
c.30C>T |
p.A10= |
Synonymous |
1/53 |
- |
3 |
X-107683386-G-A |
c.31G>A |
p.G11S |
Missense |
1/53 |
- |
1 |
X-107683386-G-T |
c.31G>T |
p.G11C |
Missense |
1/53 |
- |
1 |
X-107683387-G-A |
c.32G>A |
p.G11D |
Missense |
1/53 |
- |
2 |
X-107683387-G-T |
c.32G>T |
p.G11V |
Missense |
1/53 |
- |
1 |
X-107683389-T-A |
c.34T>A |
p.L12M |
Missense |
1/53 |
- |
1 |
X-107683392-T-C |
c.37T>C |
p.F13L |
Missense |
1/53 |
- |
1 |
X-107683392-TT-AA |
c.37_38inv |
p.F13N |
Missense |
1/53 |
- |
1 |
X-107683394-C-A |
c.39C>A |
p.F13L |
Missense |
1/53 |
- |
1 |
X-107683394-C-G |
c.39C>G |
p.F13L |
Missense |
1/53 |
- |
1 |
X-107683395-T-G |
c.40T>G |
p.L14V |
Missense |
1/53 |
- |
1 |
X-107683398-CT-TC |
c.43_44delinsTC |
p.L15S |
Missense |
1/53 |
- |
1 |
X-107683399-T-C |
c.44T>C |
p.L15P |
Missense |
1/53 |
- |
1 |
X-107683401-GC-CA |
c.46_47delinsCA |
p.A16H |
Missense |
1/53 |
- |
1 |
X-107683401-GC-TA |
c.46_47delinsTA |
p.A16Y |
Missense |
1/53 |
- |
1 |
X-107683401-G-T |
c.46G>T |
p.A16S |
Missense |
1/53 |
- |
2 |
X-107683402-C-A |
c.47C>A |
p.A16D |
Missense |
1/53 |
- |
1 |
X-107683402-C-G |
c.47C>G |
p.A16G |
Missense |
1/53 |
- |
1 |
X-107683403-C-A |
c.48C>A |
p.A16= |
Synonymous |
1/53 |
- |
1 |
X-107683403-C-G |
c.48C>G |
p.A16= |
Synonymous |
1/53 |
- |
1 |
X-107683403-C-T |
c.48C>T |
p.A16= |
Synonymous |
1/53 |
- |
1 |
X-107683404-CCT-C |
c.49_50del |
p.L17Efs*22 |
Frameshift |
1/53 |
- |
1 |
X-107683405-CT-C |
c.50del |
p.L17Rfs*27 |
Frameshift |
1/53 |
- |
1 |
X-107683405-T-A |
c.50T>A |
p.L17Q |
Missense |
1/53 |
- |
1 |
X-107683405-TGA-T |
c.52_53del |
p.W20Gfs*19 |
Frameshift |
1/53 |
- |
1 |
X-107683407-AG-GA |
c.52_53delinsGA |
p.S18D |
Missense |
1/53 |
- |
2 |
X-107683407-AG-GC |
c.52_53delinsGC |
p.S18A |
Missense |
1/53 |
- |
2 |
X-107683407-A-T |
c.52A>T |
p.S18C |
Missense |
1/53 |
- |
2 |
X-107683409-T-C |
c.54T>C |
p.S18= |
Synonymous |
1/53 |
- |
1 |
X-107683413-T-A |
c.58T>A |
p.W20R |
Missense |
1/53 |
- |
1 |
X-107683413-T-C |
c.58T>C |
p.W20R |
Missense |
1/53 |
- |
1 |
X-107683414-G-C |
c.59G>C |
p.W20S |
Missense |
1/53 |
- |
1 |
X-107683414-G-T |
c.59G>T |
p.W20L |
Missense |
1/53 |
- |
1 |
X-107683415-G-A |
c.60G>A |
p.W20* |
Nonsense |
1/53 |
- |
1 |
X-107683416-GGG-AGC |
c.61_63delinsAGC |
p.G21S |
Missense |
1/53 |
- |
1 |
X-107683417-G-A |
c.62G>A |
p.G21E |
Missense |
1/53 |
- |
9 |
X-107683416-GGGCAGCCTGCAGA-G |
c.65_77del |
p.Q22Lfs*18 |
Frameshift |
1/53 |
- |
1 |
X-107683418-GCAGC-G |
c.65_68del |
p.Q22Lfs*21 |
Frameshift |
1/53 |
- |
1 |
X-107683420-A-T |
c.65A>T |
p.Q22L |
Missense |
1/53 |
- |
1 |
X-107683421-G-C |
c.66G>C |
p.Q22H |
Missense |
1/53 |
- |
1 |
X-107683421-G-T |
c.66G>T |
p.Q22H |
Missense |
1/53 |
- |
1 |
X-107683422-C-T |
c.67C>T |
p.P23S |
Missense |
1/53 |
- |
1 |
X-107683423-C-A |
c.68C>A |
p.P23H |
Missense |
1/53 |
- |
2 |
X-107683425-G-A |
c.70G>A |
p.A24T |
Missense |
1/53 |
- |
1 |
X-107683425-GCA-TGT |
c.70_72delinsTGT |
p.A24C |
Missense |
1/53 |
- |
1 |
X-107683425-G-T |
c.70G>T |
p.A24S |
Missense |
1/53 |
- |
1 |
X-107683426-CA-AC |
c.71_72delinsAC |
p.A24D |
Missense |
1/53 |
- |
2 |
X-107683428-G-A |
c.73G>A |
p.E25K |
Missense |
1/53 |
- |
1 |
X-107683428-GAG-TTT |
c.73_75delinsTTT |
p.E25F |
Missense |
1/53 |
- |
1 |
X-107683430-G-A |
c.75G>A |
p.E25= |
Synonymous |
1/53 |
- |
1 |
X-107683431-G-A |
c.76G>A |
p.A26T |
Missense |
1/53 |
- |
3 |
X-107683431-GC-TA |
c.76_77delinsTA |
p.A26Y |
Missense |
1/53 |
- |
1 |
X-107683431-GC-TG |
c.76_77delinsTG |
p.A26C |
Missense |
1/53 |
- |
1 |
X-107683432-C-A |
c.77C>A |
p.A26D |
Missense |
1/53 |
- |
1 |
X-107683433-T-A |
c.78T>A |
p.A26= |
Synonymous |
1/53 |
- |
3 |
X-107683433-T-C |
c.78T>C |
p.A26= |
Synonymous |
1/53 |
- |
3 |
X-107683433-T-G |
c.78T>G |
p.A26= |
Synonymous |
1/53 |
- |
3 |
X-107683434-GC-AA |
c.79_80delinsAA |
p.A27K |
Missense |
1/53 |
- |
1 |
X-107683434-GCG-TGT |
c.79_81delinsTGT |
p.A27C |
Missense |
1/53 |
- |
1 |
X-107683435-C-A |
c.80C>A |
p.A27E |
Missense |
1/53 |
- |
1 |
X-107683436-G-A |
c.81G>A |
p.A27= |
Synonymous |
1/53 |
- |
4 |
X-107683436-G-C |
c.81G>C |
p.A27= |
Synonymous |
1/53 |
- |
3 |
X-107683436-G-T |
c.81G>T |
p.A27= |
Synonymous |
1/53 |
- |
3 |
X-107683437-G-C |
c.81+1G>C |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107683437-G-T |
c.81+1G>T |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107683440-A-C |
c.81+4A>C |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107683485-GA-G |
c.81+52del |
- |
IntronicDeletion |
- |
1/52 |
1 |
X-107683502-G-C |
c.81+66G>C |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107683502-G-T |
c.81+66G>T |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107683505-G-C |
c.81+69G>C |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107683564-T-C |
c.81+128T>C |
- |
IntronicSNV |
- |
1/52 |
2 |
X-107684507-A-G |
c.81+1071A>G |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107690996-A-C |
c.81+7560A>C |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107692305-C-G |
c.81+8869C>G |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107692305-C-T |
c.81+8869C>T |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107695404-A-G |
c.81+11968A>G |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107696210-A-T |
c.81+12774A>T |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107697972-G-A |
c.81+14536G>A |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107698970-CT-C |
c.81+15543del |
- |
IntronicDeletion |
- |
1/52 |
1 |
X-107699850-CT-C |
c.81+16423del |
- |
IntronicDeletion |
- |
1/52 |
1 |
X-107701851-G-A |
c.81+18415G>A |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107706848-C-A |
c.81+23412C>A |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107707421-A-C |
c.81+23985A>C |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107708762-C-T |
c.81+25326C>T |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107712404-T-C |
c.81+28968T>C |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107717100-G-A |
c.81+33664G>A |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107782976-GC-CG |
c.82_83delinsCG |
p.A28R |
Missense |
2/53 |
- |
1 |
X-107782976-G-T |
c.82G>T |
p.A28S |
Missense |
2/53 |
- |
3 |
X-107782975-GGCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAA-G |
c.83_141del |
p.A28Gfs*32 |
InFrameDeletion |
2/53 |
- |
1 |
X-107782979-T-C |
c.85T>C |
p.C29R |
Missense |
2/53 |
- |
2 |
X-107782979-TG-AA |
c.85_86delinsAA |
p.C29N |
Missense |
2/53 |
- |
1 |
X-107782979-TG-AC |
c.85_86delinsAC |
p.C29T |
Missense |
2/53 |
- |
1 |
X-107782980-G-T |
c.86G>T |
p.C29F |
Missense |
2/53 |
- |
1 |
X-107782981-C-A |
c.87C>A |
p.C29* |
Nonsense |
2/53 |
- |
3 |
X-107782981-C-G |
c.87C>G |
p.C29W |
Missense |
2/53 |
- |
1 |
X-107782981-C-T |
c.87C>T |
p.C29= |
Synonymous |
2/53 |
- |
1 |
X-107782983-A-G |
c.89A>G |
p.Y30C |
Missense |
2/53 |
- |
2 |
X-107782984-T-A |
c.90T>A |
p.Y30* |
Nonsense |
2/53 |
- |
1 |
X-107782984-T-G |
c.90T>G |
p.Y30* |
Nonsense |
2/53 |
- |
2 |
X-107782986-G-C |
c.92G>C |
p.G31A |
Missense |
2/53 |
- |
1 |
X-107782988-T-C |
c.94T>C |
p.C32R |
Missense |
2/53 |
- |
1 |
X-107782988-TG-AA |
c.94_95delinsAA |
p.C32N |
Missense |
2/53 |
- |
1 |
X-107782997-G-A |
c.103G>A |
p.G35R |
Missense |
2/53 |
- |
1 |
X-107782999-A-G |
c.105A>G |
p.G35= |
Synonymous |
2/53 |
- |
1 |
X-107783000-TC-AG |
c.106_107delinsAG |
p.S36R |
Missense |
2/53 |
- |
1 |
X-107783001-C-A |
c.107C>A |
p.S36* |
Nonsense |
2/53 |
- |
1 |
X-107783001-CA-GG |
c.107_108delinsGG |
p.S36W |
Missense |
2/53 |
- |
1 |
X-107783001-CA-GT |
c.107_108delinsGT |
p.S36C |
Missense |
2/53 |
- |
1 |
X-107783001-C-G |
c.107C>G |
p.S36* |
Nonsense |
2/53 |
- |
3 |
X-107783001-C-T |
c.107C>T |
p.S36L |
Missense |
2/53 |
- |
2 |
X-107783005-G-A |
c.111G>A |
p.K37= |
Synonymous |
2/53 |
- |
1 |
X-107783008-T-C |
c.114T>C |
p.C38= |
Synonymous |
2/53 |
- |
2 |
X-107783010-A-G |
c.116A>G |
p.D39G |
Missense |
2/53 |
- |
1 |
X-107783012-TG-GC |
c.118_119delinsGC |
p.C40A |
Missense |
2/53 |
- |
1 |
X-107783013-TG-T |
c.119del |
p.C40Sfs*4 |
Frameshift |
2/53 |
- |
1 |
X-107783015-A-C |
c.121A>C |
p.S41R |
Missense |
2/53 |
- |
1 |
X-107783017-T-A |
c.123T>A |
p.S41R |
Missense |
2/53 |
- |
1 |
X-107783017-T-G |
c.123T>G |
p.S41R |
Missense |
2/53 |
- |
1 |
X-107783018-G-A |
c.124G>A |
p.G42S |
Missense |
2/53 |
- |
1 |
X-107783018-G-C |
c.124G>C |
p.G42R |
Missense |
2/53 |
- |
1 |
X-107783019-G-A |
c.125G>A |
p.G42D |
Missense |
2/53 |
- |
1 |
X-107783019-G-C |
c.125G>C |
p.G42A |
Missense |
2/53 |
- |
2 |
X-107783019-G-T |
c.125G>T |
p.G42V |
Missense |
2/53 |
- |
1 |
X-107783021-AT-GC |
c.127_128delinsGC |
p.I43A |
Missense |
2/53 |
- |
1 |
X-107783022-T-C |
c.128T>C |
p.I43T |
Missense |
2/53 |
- |
1 |
X-107783026-A-C |
c.132A>C |
p.K44N |
Missense |
2/53 |
- |
1 |
X-107783027-G-A |
c.133G>A |
p.G45R |
Missense |
2/53 |
- |
1 |
X-107783028-G-A |
c.134G>A |
p.G45E |
Missense |
2/53 |
- |
1 |
X-107783028-G-C |
c.134G>C |
p.G45A |
Missense |
2/53 |
- |
1 |
X-107783028-G-T |
c.134G>T |
p.G45V |
Missense |
2/53 |
- |
3 |
X-107783030-G-A |
c.136G>A |
p.E46K |
Missense |
2/53 |
- |
1 |
X-107783034-A-C |
c.140A>C |
p.K47T |
Missense |
2/53 |
- |
1 |
X-107783035-G-A |
c.141G>A |
p.K47= |
Synonymous |
2/53 |
- |
4 |
X-107783035-G-T |
c.141G>T |
p.K47N |
Missense |
2/53 |
- |
1 |
X-107783036-G-A |
c.141+1G>A |
- |
IntronicSNV |
- |
2/52 |
4 |
X-107792070-TA-T |
c.141+9044del |
- |
IntronicDeletion |
- |
2/52 |
1 |
X-107802113-C-A |
c.142-181C>A |
- |
IntronicSNV |
- |
2/52 |
1 |
X-107802113-C-T |
c.142-181C>T |
- |
IntronicSNV |
- |
2/52 |
1 |
X-107802294-G-A |
c.142G>A |
p.G48R |
Missense |
3/53 |
- |
3 |
X-107802295-G-A |
c.143G>A |
p.G48E |
Missense |
3/53 |
- |
2 |
X-107802295-GGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCA-G |
c.145_203del |
p.E49Rfs*11 |
InFrameDeletion |
3/53 |
- |
1 |
X-107802296-A-C |
c.144A>C |
p.G48= |
Synonymous |
3/53 |
- |
1 |
X-107802296-A-G |
c.144A>G |
p.G48= |
Synonymous |
3/53 |
- |
1 |
X-107802296-A-T |
c.144A>T |
p.G48= |
Synonymous |
3/53 |
- |
1 |
X-107802298-A-G |
c.146A>G |
p.E49G |
Missense |
3/53 |
- |
1 |
X-107802299-G-A |
c.147G>A |
p.E49= |
Synonymous |
3/53 |
- |
1 |
X-107802300-AGA-CAT |
c.148_150delinsCAT |
p.R50H |
Missense |
3/53 |
- |
1 |
X-107802301-G-C |
c.149G>C |
p.R50T |
Missense |
3/53 |
- |
1 |
X-107802304-G-T |
c.152G>T |
p.G51V |
Missense |
3/53 |
- |
2 |
X-107802306-GTTT-G |
c.154_156del |
p.F52del |
InFrameDeletion |
3/53 |
- |
3 |
X-107802307-T-A |
c.155T>A |
p.F52Y |
Missense |
3/53 |
- |
1 |
X-107802308-T-C |
c.156T>C |
p.F52= |
Synonymous |
3/53 |
- |
1 |
X-107802309-C-T |
c.157C>T |
p.P53S |
Missense |
3/53 |
- |
3 |
X-107802313-G-A |
c.161G>A |
p.G54D |
Missense |
3/53 |
- |
4 |
X-107802315-TT-CC |
c.163_164delinsCC |
p.L55P |
Missense |
3/53 |
- |
1 |
X-107802316-T-G |
c.164T>G |
p.L55W |
Missense |
3/53 |
- |
1 |
X-107802317-G-C |
c.165G>C |
p.L55F |
Missense |
3/53 |
- |
1 |
X-107802317-G-T |
c.165G>T |
p.L55F |
Missense |
3/53 |
- |
1 |
X-107802318-G-A |
c.166G>A |
p.E56K |
Missense |
3/53 |
- |
1 |
X-107802318-G-T |
c.166G>T |
p.E56* |
Nonsense |
3/53 |
- |
4 |
X-107802322-G-A |
c.170G>A |
p.G57E |
Missense |
3/53 |
- |
2 |
X-107802322-GA-AC |
c.170_171delinsAC |
p.G57D |
Missense |
3/53 |
- |
1 |
X-107802324-C-T |
c.172C>T |
p.H58Y |
Missense |
3/53 |
- |
3 |
X-107802328-C-T |
c.176C>T |
p.P59L |
Missense |
3/53 |
- |
1 |
X-107802330-G-A |
c.178G>A |
p.G60R |
Missense |
3/53 |
- |
2 |
X-107802330-G-T |
c.178G>T |
p.G60* |
Nonsense |
3/53 |
- |
1 |
X-107802331-G-A |
c.179G>A |
p.G60E |
Missense |
3/53 |
- |
1 |
X-107802333-T-A |
c.181T>A |
p.L61M |
Missense |
3/53 |
- |
1 |
X-107802335-G-C |
c.183G>C |
p.L61F |
Missense |
3/53 |
- |
1 |
X-107802335-G-T |
c.183G>T |
p.L61F |
Missense |
3/53 |
- |
1 |
X-107802339-G-A |
c.187G>A |
p.G63R |
Missense |
3/53 |
- |
3 |
X-107802339-GGA-AGC |
c.187_189delinsAGC |
p.G63S |
Missense |
3/53 |
- |
1 |
X-107802339-G-T |
c.187G>T |
p.G63* |
Nonsense |
3/53 |
- |
1 |
X-107802338-T-TG |
c.188dup |
p.F64Ifs*16 |
Frameshift |
3/53 |
- |
1 |
X-107802340-G-A |
c.188G>A |
p.G63E |
Missense |
3/53 |
- |
3 |
X-107802346-C-T |
c.194C>T |
p.P65L |
Missense |
3/53 |
- |
1 |
X-107802347-A-C |
c.195A>C |
p.P65= |
Synonymous |
3/53 |
- |
1 |
X-107802347-A-G |
c.195A>G |
p.P65= |
Synonymous |
3/53 |
- |
1 |
X-107802347-A-T |
c.195A>T |
p.P65= |
Synonymous |
3/53 |
- |
1 |
X-107802348-G-A |
c.196G>A |
p.G66S |
Missense |
3/53 |
- |
1 |
X-107802349-G-A |
c.197G>A |
p.G66D |
Missense |
3/53 |
- |
1 |
X-107802349-G-T |
c.197G>T |
p.G66V |
Missense |
3/53 |
- |
3 |
X-107802352-C-G |
c.200C>G |
p.P67R |
Missense |
3/53 |
- |
1 |
X-107802355-A-G |
c.203A>G |
p.E68G |
Missense |
3/53 |
- |
1 |
X-107802357-G-C |
c.205G>C |
p.G69R |
Missense |
3/53 |
- |
2 |
X-107802360-C-T |
c.208C>T |
p.P70S |
Missense |
3/53 |
- |
1 |
X-107802361-C-G |
c.209C>G |
p.P70R |
Missense |
3/53 |
- |
1 |
X-107802363-C-T |
c.211C>T |
p.P71S |
Missense |
3/53 |
- |
1 |
X-107802365-G-T |
c.213G>T |
p.P71= |
Synonymous |
3/53 |
- |
1 |
X-107802370-C-G |
c.218C>G |
p.P73R |
Missense |
3/53 |
- |
1 |
X-107802372-C-G |
c.220C>G |
p.R74G |
Missense |
3/53 |
- |
1 |
X-107802372-CG-AA |
c.220_221delinsAA |
p.R74K |
Missense |
3/53 |
- |
1 |
X-107802372-CGG-GAC |
c.220_222delinsGAC |
p.R74D |
Missense |
3/53 |
- |
1 |
X-107802372-C-T |
c.220C>T |
p.R74W |
Missense |
3/53 |
- |
7 |
X-107802373-G-A |
c.221G>A |
p.R74Q |
Missense |
3/53 |
- |
1 |
X-107802373-G-T |
c.221G>T |
p.R74L |
Missense |
3/53 |
- |
1 |
X-107802374-G-A |
c.222G>A |
p.R74= |
Synonymous |
3/53 |
- |
3 |
X-107802376-G-T |
c.224G>T |
p.G75V |
Missense |
3/53 |
- |
1 |
X-107802377-GA-G |
c.225del |
p.Q76Kfs*79 |
Frameshift |
3/53 |
- |
1 |
X-107802378-C-A |
c.226C>A |
p.Q76K |
Missense |
3/53 |
- |
1 |
X-107802378-C-T |
c.226C>T |
p.Q76* |
Nonsense |
3/53 |
- |
1 |
X-107802382-A-C |
c.230A>C |
p.K77T |
Missense |
3/53 |
- |
1 |
X-107802382-A-G |
c.230A>G |
p.K77R |
Missense |
3/53 |
- |
1 |
X-107802384-G-A |
c.231+1G>A |
- |
IntronicSNV |
- |
3/52 |
1 |
X-107802385-T-A |
c.231+2T>A |
- |
IntronicSNV |
- |
3/52 |
1 |
X-107802385-T-C |
c.231+2T>C |
- |
IntronicSNV |
- |
3/52 |
2 |
X-107803329-G-A |
c.231+946G>A |
- |
IntronicSNV |
- |
3/52 |
1 |
X-107807095-A-C |
c.232-17A>C |
- |
IntronicSNV |
- |
3/52 |
3 |
X-107807112-G-C |
c.232G>C |
p.G78R |
Missense |
4/53 |
- |
1 |
X-107807113-G-A |
c.233G>A |
p.G78D |
Missense |
4/53 |
- |
1 |
X-107807113-G-C |
c.233G>C |
p.G78A |
Missense |
4/53 |
- |
1 |
X-107807116-A-G |
c.236A>G |
p.D79G |
Missense |
4/53 |
- |
1 |
X-107807116-A-T |
c.236A>T |
p.D79V |
Missense |
4/53 |
- |
1 |
X-107807118-G-A |
c.238G>A |
p.D80N |
Missense |
4/53 |
- |
4 |
X-107807121-G-A |
c.241G>A |
p.G81R |
Missense |
4/53 |
- |
5 |
X-107807121-G-C |
c.241G>C |
p.G81R |
Missense |
4/53 |
- |
2 |
X-107807122-G-A |
c.242G>A |
p.G81E |
Missense |
4/53 |
- |
7 |
X-107807124-AT-GC |
c.244_245delinsGC |
p.I82A |
Missense |
4/53 |
- |
1 |
X-107807125-T-C |
c.245T>C |
p.I82T |
Missense |
4/53 |
- |
1 |
X-107807126-T-A |
c.246T>A |
p.I82= |
Synonymous |
4/53 |
- |
1 |
X-107807128-C-A |
c.248C>A |
p.P83Q |
Missense |
4/53 |
- |
1 |
X-107807130-G-A |
c.250G>A |
p.G84R |
Missense |
4/53 |
- |
1 |
X-107807130-G-C |
c.250G>C |
p.G84R |
Missense |
4/53 |
- |
1 |
X-107807131-G-A |
c.251G>A |
p.G84E |
Missense |
4/53 |
- |
1 |
X-107807131-G-T |
c.251G>T |
p.G84V |
Missense |
4/53 |
- |
1 |
X-107807129-AG-A |
c.252del |
p.P85Hfs*70 |
Frameshift |
4/53 |
- |
1 |
X-107807133-C-A |
c.253C>A |
p.P85T |
Missense |
4/53 |
- |
5 |
X-107807133-C-T |
c.253C>T |
p.P85S |
Missense |
4/53 |
- |
4 |
X-107807134-C-A |
c.254C>A |
p.P85Q |
Missense |
4/53 |
- |
2 |
X-107807135-A-T |
c.255A>T |
p.P85= |
Synonymous |
4/53 |
- |
1 |
X-107807136-C-A |
c.256C>A |
p.P86T |
Missense |
4/53 |
- |
1 |
X-107807136-C-T |
c.256C>T |
p.P86S |
Missense |
4/53 |
- |
1 |
X-107807142-C-A |
c.262C>A |
p.P88T |
Missense |
4/53 |
- |
2 |
X-107807142-C-T |
c.262C>T |
p.P88S |
Missense |
4/53 |
- |
2 |
X-107807143-C-T |
c.263C>T |
p.P88L |
Missense |
4/53 |
- |
1 |
X-107807148-G-A |
c.268G>A |
p.G90R |
Missense |
4/53 |
- |
5 |
X-107807148-G-C |
c.268G>C |
p.G90R |
Missense |
4/53 |
- |
2 |
X-107807148-GGA-AGC |
c.268_270delinsAGC |
p.G90S |
Missense |
4/53 |
- |
1 |
X-107807149-G-A |
c.269G>A |
p.G90E |
Missense |
4/53 |
- |
1 |
X-107807151-A-T |
c.271A>T |
p.I91F |
Missense |
4/53 |
- |
3 |
X-107807154-AGA-CAT |
c.274_276delinsCAT |
p.R92H |
Missense |
4/53 |
- |
1 |
X-107807154-AGA-GAC |
c.274_276delinsGAC |
p.R92D |
Missense |
4/53 |
- |
1 |
X-107807154-AG-CA |
c.274_275delinsCA |
p.R92Q |
Missense |
4/53 |
- |
1 |
X-107807161-G-A |
c.276+5G>A |
- |
IntronicSNV |
- |
4/52 |
1 |
X-107807161-G-T |
c.276+5G>T |
- |
IntronicSNV |
- |
4/52 |
1 |
X-107807225-T-C |
c.276+69T>C |
- |
IntronicSNV |
- |
4/52 |
1 |
X-107811859-G-T |
c.277G>T |
p.G93C |
Missense |
5/53 |
- |
1 |
X-107811860-G-A |
c.278G>A |
p.G93D |
Missense |
5/53 |
- |
1 |
X-107811860-G-C |
c.278G>C |
p.G93A |
Missense |
5/53 |
- |
5 |
X-107811860-GT-AG |
c.278_279delinsAG |
p.G93E |
Missense |
5/53 |
- |
2 |
X-107811862-C-A |
c.280C>A |
p.P94T |
Missense |
5/53 |
- |
1 |
X-107811862-C-T |
c.280C>T |
p.P94S |
Missense |
5/53 |
- |
3 |
X-107811863-C-T |
c.281C>T |
p.P94L |
Missense |
5/53 |
- |
1 |
X-107811868-G-A |
c.286G>A |
p.G96R |
Missense |
5/53 |
- |
2 |
X-107811869-G-C |
c.287G>C |
p.G96A |
Missense |
5/53 |
- |
1 |
X-107811869-G-T |
c.287G>T |
p.G96V |
Missense |
5/53 |
- |
2 |
X-107811873-TC-T |
c.293del |
p.P98Lfs*57 |
Frameshift |
5/53 |
- |
1 |
X-107811875-C-T |
c.293C>T |
p.P98L |
Missense |
5/53 |
- |
1 |
X-107811877-G-A |
c.295G>A |
p.G99R |
Missense |
5/53 |
- |
2 |
X-107811877-G-C |
c.295G>C |
p.G99R |
Missense |
5/53 |
- |
1 |
X-107811878-G-A |
c.296G>A |
p.G99E |
Missense |
5/53 |
- |
4 |
X-107811878-G-T |
c.296G>T |
p.G99V |
Missense |
5/53 |
- |
1 |
X-107811883-C-T |
c.301C>T |
p.P101S |
Missense |
5/53 |
- |
1 |
X-107811886-G-A |
c.304G>A |
p.G102R |
Missense |
5/53 |
- |
2 |
X-107811886-G-C |
c.304G>C |
p.G102R |
Missense |
5/53 |
- |
1 |
X-107811887-G-T |
c.305G>T |
p.G102V |
Missense |
5/53 |
- |
3 |
X-107811890-C-T |
c.308C>T |
p.T103I |
Missense |
5/53 |
- |
1 |
X-107811892-C-G |
c.310C>G |
p.P104A |
Missense |
5/53 |
- |
1 |
X-107811891-AC-A |
c.311del |
p.P104Qfs*51 |
Frameshift |
5/53 |
- |
1 |
X-107811893-C-G |
c.311C>G |
p.P104R |
Missense |
5/53 |
- |
1 |
X-107811895-G-C |
c.313G>C |
p.G105R |
Missense |
5/53 |
- |
3 |
X-107811896-G-A |
c.314G>A |
p.G105D |
Missense |
5/53 |
- |
1 |
X-107811896-G-C |
c.314G>C |
p.G105A |
Missense |
5/53 |
- |
2 |
X-107811898-C-T |
c.316C>T |
p.L106F |
Missense |
5/53 |
- |
2 |
X-107811901-C-T |
c.319C>T |
p.P107S |
Missense |
5/53 |
- |
5 |
X-107811902-C-G |
c.320C>G |
p.P107R |
Missense |
5/53 |
- |
1 |
X-107811902-C-T |
c.320C>T |
p.P107L |
Missense |
5/53 |
- |
2 |
X-107811905-T-G |
c.321+2T>G |
- |
IntronicSNV |
- |
5/52 |
1 |
X-107811978-G-A |
c.322-11G>A |
- |
IntronicSNV |
- |
5/52 |
1 |
X-107811989-G-A |
c.322G>A |
p.G108R |
Missense |
6/53 |
- |
4 |
X-107811989-G-C |
c.322G>C |
p.G108R |
Missense |
6/53 |
- |
2 |
X-107811990-G-A |
c.323G>A |
p.G108E |
Missense |
6/53 |
- |
5 |
X-107811992-A-C |
c.325A>C |
p.M109L |
Missense |
6/53 |
- |
1 |
X-107811992-A-T |
c.325A>T |
p.M109L |
Missense |
6/53 |
- |
1 |
X-107811994-G-A |
c.327G>A |
p.M109I |
Missense |
6/53 |
- |
1 |
X-107811994-G-C |
c.327G>C |
p.M109I |
Missense |
6/53 |
- |
1 |
X-107811994-G-T |
c.327G>T |
p.M109I |
Missense |
6/53 |
- |
1 |
X-107811998-G-C |
c.331G>C |
p.G111R |
Missense |
6/53 |
- |
1 |
X-107811998-G-GCA |
c.331_332insCA |
p.G111Afs*45 |
Frameshift |
6/53 |
- |
1 |
X-107811999-G-A |
c.332G>A |
p.G111D |
Missense |
6/53 |
- |
1 |
X-107812000-C-A |
c.333C>A |
p.G111= |
Synonymous |
6/53 |
- |
1 |
X-107812000-C-G |
c.333C>G |
p.G111= |
Synonymous |
6/53 |
- |
1 |
X-107812000-C-T |
c.333C>T |
p.G111= |
Synonymous |
6/53 |
- |
2 |
X-107812001-C-G |
c.334C>G |
p.H112D |
Missense |
6/53 |
- |
1 |
X-107812002-A-G |
c.335A>G |
p.H112R |
Missense |
6/53 |
- |
1 |
X-107812004-G-A |
c.337G>A |
p.D113N |
Missense |
6/53 |
- |
2 |
X-107812007-G-A |
c.340G>A |
p.G114R |
Missense |
6/53 |
- |
1 |
X-107812007-GGG-AGC |
c.340_342delinsAGC |
p.G114S |
Missense |
6/53 |
- |
2 |
X-107812008-G-A |
c.341G>A |
p.G114E |
Missense |
6/53 |
- |
1 |
X-107812008-G-C |
c.341G>C |
p.G114A |
Missense |
6/53 |
- |
2 |
X-107812010-G-A |
c.343G>A |
p.A115T |
Missense |
6/53 |
- |
4 |
X-107812011-C-T |
c.344C>T |
p.A115V |
Missense |
6/53 |
- |
2 |
X-107812010-GC-G |
c.347del |
p.P116Qfs*39 |
Frameshift |
6/53 |
- |
1 |
X-107812015-A-ATCCGG |
c.348_349insTCCGG |
p.G117Sfs*40 |
Frameshift |
6/53 |
- |
1 |
X-107812016-G-T |
c.349G>T |
p.G117* |
Nonsense |
6/53 |
- |
1 |
X-107812017-G-A |
c.350G>A |
p.G117E |
Missense |
6/53 |
- |
2 |
X-107812017-G-T |
c.350G>T |
p.G117V |
Missense |
6/53 |
- |
1 |
X-107812014-CAGGACCTCA-C |
c.351_359del |
p.P118_G120del |
InFrameDeletion |
6/53 |
- |
2 |
X-107812019-C-G |
c.352C>G |
p.P118A |
Missense |
6/53 |
- |
1 |
X-107812020-CT-AA |
c.353_354delinsAA |
p.P118Q |
Missense |
6/53 |
- |
1 |
X-107812024-A-C |
c.357A>C |
p.Q119H |
Missense |
6/53 |
- |
1 |
X-107812024-A-T |
c.357A>T |
p.Q119H |
Missense |
6/53 |
- |
1 |
X-107812025-G-A |
c.358G>A |
p.G120S |
Missense |
6/53 |
- |
1 |
X-107812026-G-A |
c.359G>A |
p.G120D |
Missense |
6/53 |
- |
2 |
X-107812028-A-G |
c.361A>G |
p.I121V |
Missense |
6/53 |
- |
1 |
X-107812031-C-CAGCT |
c.364_365insAGCT |
p.P122Qfs*37 |
Frameshift |
6/53 |
- |
1 |
X-107812034-G-A |
c.367G>A |
p.G123R |
Missense |
6/53 |
- |
5 |
X-107812034-GGA-AGC |
c.367_369delinsAGC |
p.G123S |
Missense |
6/53 |
- |
1 |
X-107812033-CG-C |
c.368del |
p.G123Dfs*32 |
Frameshift |
6/53 |
- |
2 |
X-107812035-G-A |
c.368G>A |
p.G123E |
Missense |
6/53 |
- |
3 |
X-107812035-G-T |
c.368G>T |
p.G123V |
Missense |
6/53 |
- |
1 |
X-107812040-A-G |
c.373A>G |
p.N125D |
Missense |
6/53 |
- |
1 |
X-107812041-A-G |
c.374A>G |
p.N125S |
Missense |
6/53 |
- |
1 |
X-107812044-G-A |
c.377G>A |
p.G126E |
Missense |
6/53 |
- |
2 |
X-107812048-C-T |
c.381C>T |
p.T127= |
Synonymous |
6/53 |
- |
3 |
X-107812051-G-A |
c.384G>A |
p.K128= |
Synonymous |
6/53 |
- |
1 |
X-107812052-G-A |
c.384+1G>A |
- |
IntronicSNV |
- |
6/52 |
2 |
X-107812158-G-A |
c.384+107G>A |
- |
IntronicSNV |
- |
6/52 |
1 |
X-107814546-G-A |
c.385-97G>A |
- |
IntronicSNV |
- |
6/52 |
2 |
X-107814643-G-A |
c.385G>A |
p.G129R |
Missense |
7/53 |
- |
5 |
X-107814644-G-A |
c.386G>A |
p.G129E |
Missense |
7/53 |
- |
5 |
X-107814644-G-T |
c.386G>T |
p.G129V |
Missense |
7/53 |
- |
4 |
X-107814646-GAA-TAT |
c.388_390delinsTAT |
p.E130Y |
Missense |
7/53 |
- |
1 |
X-107814646-G-C |
c.388G>C |
p.E130Q |
Missense |
7/53 |
- |
1 |
X-107814646-G-T |
c.388G>T |
p.E130* |
Nonsense |
7/53 |
- |
2 |
X-107814647-A-G |
c.389A>G |
p.E130G |
Missense |
7/53 |
- |
1 |
X-107814648-A-C |
c.390A>C |
p.E130D |
Missense |
7/53 |
- |
1 |
X-107814648-A-T |
c.390A>T |
p.E130D |
Missense |
7/53 |
- |
2 |
X-107814649-C-A |
c.391C>A |
p.R131S |
Missense |
7/53 |
- |
1 |
X-107814649-CG-GC |
c.391_392delinsGC |
p.R131A |
Missense |
7/53 |
- |
1 |
X-107814649-C-T |
c.391C>T |
p.R131C |
Missense |
7/53 |
- |
1 |
X-107814650-G-A |
c.392G>A |
p.R131H |
Missense |
7/53 |
- |
4 |
X-107814652-G-A |
c.394G>A |
p.G132R |
Missense |
7/53 |
- |
2 |
X-107814652-G-T |
c.394G>T |
p.G132* |
Nonsense |
7/53 |
- |
2 |
X-107814653-G-A |
c.395G>A |
p.G132E |
Missense |
7/53 |
- |
3 |
X-107814653-G-T |
c.395G>T |
p.G132V |
Missense |
7/53 |
- |
2 |
X-107814658-C-T |
c.400C>T |
p.P134S |
Missense |
7/53 |
- |
9 |
X-107814662-G-A |
c.404G>A |
p.G135D |
Missense |
7/53 |
- |
3 |
X-107814662-G-T |
c.404G>T |
p.G135V |
Missense |
7/53 |
- |
5 |
X-107814664-A-G |
c.406A>G |
p.S136G |
Missense |
7/53 |
- |
1 |
X-107814668-C-A |
c.410C>A |
p.P137H |
Missense |
7/53 |
- |
1 |
X-107814669-C-A |
c.411C>A |
p.P137= |
Synonymous |
7/53 |
- |
2 |
X-107814669-C-G |
c.411C>G |
p.P137= |
Synonymous |
7/53 |
- |
3 |
X-107814670-G-A |
c.412G>A |
p.G138S |
Missense |
7/53 |
- |
3 |
X-107814670-G-T |
c.412G>T |
p.G138C |
Missense |
7/53 |
- |
7 |
X-107814671-G-A |
c.413G>A |
p.G138D |
Missense |
7/53 |
- |
1 |
X-107814671-G-C |
c.413G>C |
p.G138A |
Missense |
7/53 |
- |
1 |
X-107814675-T-A |
c.417T>A |
p.F139L |
Missense |
7/53 |
- |
1 |
X-107814676-C-G |
c.418C>G |
p.P140A |
Missense |
7/53 |
- |
1 |
X-107814676-C-T |
c.418C>T |
p.P140S |
Missense |
7/53 |
- |
4 |
X-107814677-C-T |
c.419C>T |
p.P140L |
Missense |
7/53 |
- |
1 |
X-107814679-G-A |
c.421G>A |
p.G141S |
Missense |
7/53 |
- |
3 |
X-107814679-GGTTTACA-G |
c.423_429del |
p.L142Vfs*11 |
Frameshift |
7/53 |
- |
1 |
X-107814683-T-C |
c.425T>C |
p.L142S |
Missense |
7/53 |
- |
1 |
X-107814685-C-T |
c.427C>T |
p.Q143* |
Nonsense |
7/53 |
- |
1 |
X-107814688-G-A |
c.430G>A |
p.G144S |
Missense |
7/53 |
- |
3 |
X-107814688-G-C |
c.430G>C |
p.G144R |
Missense |
7/53 |
- |
2 |
X-107814689-G-A |
c.431G>A |
p.G144D |
Missense |
7/53 |
- |
4 |
X-107814689-G-C |
c.431G>C |
p.G144A |
Missense |
7/53 |
- |
1 |
X-107814691-C-T |
c.433C>T |
p.P145S |
Missense |
7/53 |
- |
3 |
X-107814694-C-A |
c.436C>A |
p.P146T |
Missense |
7/53 |
- |
2 |
X-107814694-C-T |
c.436C>T |
p.P146S |
Missense |
7/53 |
- |
3 |
X-107814697-G-A |
c.438+1G>A |
- |
IntronicSNV |
- |
7/52 |
1 |
X-107814698-T-C |
c.438+2T>C |
- |
IntronicSNV |
- |
7/52 |
2 |
X-107814701-G-A |
c.438+5G>A |
- |
IntronicSNV |
- |
7/52 |
3 |
X-107814732-G-T |
c.438+36G>T |
- |
IntronicSNV |
- |
7/52 |
1 |
X-107815041-G-A |
c.439G>A |
p.G147R |
Missense |
8/53 |
- |
1 |
X-107815041-GGA-AGC |
c.439_441delinsAGC |
p.G147S |
Missense |
8/53 |
- |
1 |
X-107815041-G-T |
c.439G>T |
p.G147* |
Nonsense |
8/53 |
- |
2 |
X-107815039-AG-A |
c.440del |
p.G147Dfs*8 |
Frameshift |
8/53 |
- |
2 |
X-107815042-G-A |
c.440G>A |
p.G147E |
Missense |
8/53 |
- |
7 |
X-107815042-G-C |
c.440G>C |
p.G147A |
Missense |
8/53 |
- |
1 |
X-107815042-G-T |
c.440G>T |
p.G147V |
Missense |
8/53 |
- |
1 |
X-107815043-A-C |
c.441A>C |
p.G147= |
Synonymous |
8/53 |
- |
1 |
X-107815043-A-G |
c.441A>G |
p.G147= |
Synonymous |
8/53 |
- |
1 |
X-107815043-A-T |
c.441A>T |
p.G147= |
Synonymous |
8/53 |
- |
1 |
X-107815044-C-T |
c.442C>T |
p.P148S |
Missense |
8/53 |
- |
1 |
X-107815045-C-A |
c.443C>A |
p.P148H |
Missense |
8/53 |
- |
1 |
X-107815045-C-T |
c.443C>T |
p.P148L |
Missense |
8/53 |
- |
2 |
X-107815047-C-G |
c.445C>G |
p.P149A |
Missense |
8/53 |
- |
1 |
X-107815043-A-AC |
c.446dup |
p.G150Wfs*8 |
Frameshift |
8/53 |
- |
2 |
X-107815043-AC-A |
c.446del |
p.P149Lfs*6 |
Frameshift |
8/53 |
- |
4 |
X-107815048-C-T |
c.446C>T |
p.P149L |
Missense |
8/53 |
- |
2 |
X-107815050-G-A |
c.448G>A |
p.G150R |
Missense |
8/53 |
- |
1 |
X-107815050-G-C |
c.448G>C |
p.G150R |
Missense |
8/53 |
- |
1 |
X-107815050-G-T |
c.448G>T |
p.G150W |
Missense |
8/53 |
- |
1 |
X-107815051-G-A |
c.449G>A |
p.G150E |
Missense |
8/53 |
- |
1 |
X-107815053-A-G |
c.451A>G |
p.I151V |
Missense |
8/53 |
- |
1 |
X-107815054-T-C |
c.452T>C |
p.I151T |
Missense |
8/53 |
- |
1 |
X-107815055-C-T |
c.453C>T |
p.I151= |
Synonymous |
8/53 |
- |
2 |
X-107815056-C-T |
c.454C>T |
p.P152S |
Missense |
8/53 |
- |
1 |
X-107815057-C-G |
c.455C>G |
p.P152R |
Missense |
8/53 |
- |
2 |
X-107815057-C-T |
c.455C>T |
p.P152L |
Missense |
8/53 |
- |
1 |
X-107815059-G-A |
c.457G>A |
p.G153S |
Missense |
8/53 |
- |
1 |
X-107815060-G-A |
c.458G>A |
p.G153D |
Missense |
8/53 |
- |
2 |
X-107815060-G-T |
c.458G>T |
p.G153V |
Missense |
8/53 |
- |
2 |
X-107815064-G-A |
c.462G>A |
p.M154I |
Missense |
8/53 |
- |
8 |
X-107815064-G-C |
c.462G>C |
p.M154I |
Missense |
8/53 |
- |
2 |
X-107815064-G-T |
c.462G>T |
p.M154I |
Missense |
8/53 |
- |
2 |
X-107815067-G-C |
c.465G>C |
p.K155N |
Missense |
8/53 |
- |
1 |
X-107816804-G-C |
c.466G>C |
p.G156R |
Missense |
9/53 |
- |
2 |
X-107816804-G-T |
c.466G>T |
p.G156C |
Missense |
9/53 |
- |
1 |
X-107816805-G-A |
c.467G>A |
p.G156D |
Missense |
9/53 |
- |
4 |
X-107816805-G-C |
c.467G>C |
p.G156A |
Missense |
9/53 |
- |
1 |
X-107816805-G-T |
c.467G>T |
p.G156V |
Missense |
9/53 |
- |
1 |
X-107816806-T-G |
c.468T>G |
p.G156= |
Synonymous |
9/53 |
- |
1 |
X-107816807-G-T |
c.469G>T |
p.E157* |
Nonsense |
9/53 |
- |
1 |
X-107816812-AG-A |
c.476del |
p.G159Vfs*3 |
Frameshift |
9/53 |
- |
1 |
X-107816814-G-T |
c.476G>T |
p.G159V |
Missense |
9/53 |
- |
1 |
X-107816817-G-A |
c.479G>A |
p.S160N |
Missense |
9/53 |
- |
2 |
X-107816818-T-C |
c.480T>C |
p.S160= |
Synonymous |
9/53 |
- |
1 |
X-107816820-T-A |
c.482T>A |
p.I161K |
Missense |
9/53 |
- |
1 |
X-107816823-T-C |
c.485T>C |
p.I162T |
Missense |
9/53 |
- |
1 |
X-107816825-A-G |
c.487A>G |
p.M163V |
Missense |
9/53 |
- |
3 |
X-107816826-T-C |
c.488T>C |
p.M163T |
Missense |
9/53 |
- |
3 |
X-107816826-T-G |
c.488T>G |
p.M163R |
Missense |
9/53 |
- |
1 |
X-107816831-T-C |
c.493T>C |
p.S165P |
Missense |
9/53 |
- |
1 |
X-107816837-C-T |
c.499C>T |
p.P167S |
Missense |
9/53 |
- |
4 |
X-107816836-GC-G |
c.500del |
p.P167Qfs*36 |
Frameshift |
9/53 |
- |
3 |
X-107816838-C-A |
c.500C>A |
p.P167Q |
Missense |
9/53 |
- |
3 |
X-107816840-G-A |
c.502G>A |
p.G168R |
Missense |
9/53 |
- |
1 |
X-107816840-G-C |
c.502G>C |
p.G168R |
Missense |
9/53 |
- |
1 |
X-107816840-GGA-TGT |
c.502_504delinsTGT |
p.G168C |
Missense |
9/53 |
- |
1 |
X-107816843-C-T |
c.505C>T |
p.P169S |
Missense |
9/53 |
- |
4 |
X-107816848-G-A |
c.510G>A |
p.K170= |
Synonymous |
9/53 |
- |
2 |
X-107816849-G-C |
c.511G>C |
p.G171R |
Missense |
9/53 |
- |
2 |
X-107816853-A-G |
c.515A>G |
p.N172S |
Missense |
9/53 |
- |
1 |
X-107816856-C-A |
c.518C>A |
p.P173Q |
Missense |
9/53 |
- |
1 |
X-107816858-G-A |
c.520G>A |
p.G174R |
Missense |
9/53 |
- |
1 |
X-107816858-G-C |
c.520G>C |
p.G174R |
Missense |
9/53 |
- |
5 |
X-107816859-G-A |
c.521G>A |
p.G174E |
Missense |
9/53 |
- |
2 |
X-107816860-A-C |
c.522A>C |
p.G174= |
Synonymous |
9/53 |
- |
1 |
X-107816860-A-G |
c.522A>G |
p.G174= |
Synonymous |
9/53 |
- |
1 |
X-107816860-A-T |
c.522A>T |
p.G174= |
Synonymous |
9/53 |
- |
1 |
X-107816863-AT-A |
c.525del |
p.P176Qfs*27 |
Frameshift |
9/53 |
- |
2 |
X-107816864-C-T |
c.526C>T |
p.P176S |
Missense |
9/53 |
- |
3 |
X-107816865-C-T |
c.527C>T |
p.P176L |
Missense |
9/53 |
- |
1 |
X-107816867-G-C |
c.529G>C |
p.G177R |
Missense |
9/53 |
- |
3 |
X-107816867-G-T |
c.529G>T |
p.G177C |
Missense |
9/53 |
- |
3 |
X-107816868-G-A |
c.530G>A |
p.G177D |
Missense |
9/53 |
- |
1 |
X-107816869-T-C |
c.531T>C |
p.G177= |
Synonymous |
9/53 |
- |
1 |
X-107816869-TC-T |
c.533del |
p.P178Lfs*25 |
Frameshift |
9/53 |
- |
1 |
X-107816871-C-T |
c.533C>T |
p.P178L |
Missense |
9/53 |
- |
1 |
X-107816873-C-G |
c.535C>G |
p.P179A |
Missense |
9/53 |
- |
1 |
X-107816873-C-T |
c.535C>T |
p.P179S |
Missense |
9/53 |
- |
5 |
X-107816874-C-T |
c.536C>T |
p.P179L |
Missense |
9/53 |
- |
2 |
X-107816876-G-A |
c.538G>A |
p.G180R |
Missense |
9/53 |
- |
2 |
X-107816876-G-C |
c.538G>C |
p.G180R |
Missense |
9/53 |
- |
1 |
X-107816877-G-A |
c.539G>A |
p.G180E |
Missense |
9/53 |
- |
1 |
X-107816878-A-C |
c.540A>C |
p.G180= |
Synonymous |
9/53 |
- |
1 |
X-107816878-A-G |
c.540A>G |
p.G180= |
Synonymous |
9/53 |
- |
1 |
X-107816878-A-T |
c.540A>T |
p.G180= |
Synonymous |
9/53 |
- |
1 |
X-107816880-TACAAGTA-T |
c.544_546+4del |
- |
SpliceDonorDeletion |
9/53 |
9/52 |
1 |
X-107816882-CAA-TGT |
c.544_546delinsTGT |
p.Q182C |
Missense |
9/53 |
- |
1 |
X-107816882-C-T |
c.544C>T |
p.Q182* |
Nonsense |
9/53 |
- |
2 |
X-107816883-A-T |
c.545A>T |
p.Q182L |
Missense |
9/53 |
- |
1 |
X-107816883-CAA-C |
c.545_546del |
p.Q182Rfs*33 |
SpliceDonorDeletion |
9/53 |
- |
1 |
X-107816885-G-A |
c.546+1G>A |
- |
IntronicSNV |
- |
9/52 |
1 |
X-107816885-G-GT |
c.546+2dup |
- |
IntronicInsertion |
- |
9/52 |
1 |
X-107816886-T-C |
c.546+2T>C |
- |
IntronicSNV |
- |
9/52 |
1 |
X-107816889-G-C |
c.546+5G>C |
- |
IntronicSNV |
- |
9/52 |
1 |
X-107819140-G-A |
c.547G>A |
p.G183S |
Missense |
10/53 |
- |
3 |
X-107819138-A-AG |
c.548dup |
p.L184Pfs*32 |
SpliceAcceptorInsertion |
10/53 |
- |
1 |
X-107819141-G-T |
c.548G>T |
p.G183V |
Missense |
10/53 |
- |
4 |
X-107819142-C-T |
c.549C>T |
p.G183= |
Synonymous |
10/53 |
- |
3 |
X-107819141-G-GC |
c.550dup |
p.L184Pfs*32 |
Frameshift |
10/53 |
- |
1 |
X-107819147-C-G |
c.554C>G |
p.P185R |
Missense |
10/53 |
- |
1 |
X-107819147-C-T |
c.554C>T |
p.P185L |
Missense |
10/53 |
- |
1 |
X-107819149-G-A |
c.556G>A |
p.G186S |
Missense |
10/53 |
- |
1 |
X-107819149-G-C |
c.556G>C |
p.G186R |
Missense |
10/53 |
- |
2 |
X-107819150-G-A |
c.557G>A |
p.G186D |
Missense |
10/53 |
- |
1 |
X-107819152-C-T |
c.559C>T |
p.P187S |
Missense |
10/53 |
- |
1 |
X-107819154-C-A |
c.561C>A |
p.P187= |
Synonymous |
10/53 |
- |
1 |
X-107819154-C-G |
c.561C>G |
p.P187= |
Synonymous |
10/53 |
- |
1 |
X-107819154-C-T |
c.561C>T |
p.P187= |
Synonymous |
10/53 |
- |
1 |
X-107819159-G-T |
c.566G>T |
p.G189V |
Missense |
10/53 |
- |
1 |
X-107819161-A-G |
c.568A>G |
p.I190V |
Missense |
10/53 |
- |
2 |
X-107819167-G-A |
c.574G>A |
p.G192R |
Missense |
10/53 |
- |
4 |
X-107819167-G-C |
c.574G>C |
p.G192R |
Missense |
10/53 |
- |
2 |
X-107819167-G-T |
c.574G>T |
p.G192W |
Missense |
10/53 |
- |
2 |
X-107819168-G-A |
c.575G>A |
p.G192E |
Missense |
10/53 |
- |
1 |
X-107819166-A-AG |
c.576dup |
p.P193Afs*23 |
Frameshift |
10/53 |
- |
1 |
X-107819169-G-A |
c.576G>A |
p.G192= |
Synonymous |
10/53 |
- |
1 |
X-107819171-C-T |
c.578C>T |
p.P193L |
Missense |
10/53 |
- |
1 |
X-107819173-A-G |
c.580A>G |
p.I194V |
Missense |
10/53 |
- |
3 |
X-107819174-T-C |
c.581T>C |
p.I194T |
Missense |
10/53 |
- |
1 |
X-107819176-G-T |
c.583G>T |
p.G195C |
Missense |
10/53 |
- |
1 |
X-107819177-G-A |
c.584G>A |
p.G195D |
Missense |
10/53 |
- |
4 |
X-107819177-G-C |
c.584G>C |
p.G195A |
Missense |
10/53 |
- |
1 |
X-107819177-G-T |
c.584G>T |
p.G195V |
Missense |
10/53 |
- |
4 |
X-107819179-C-G |
c.586C>G |
p.P196A |
Missense |
10/53 |
- |
1 |
X-107819179-C-T |
c.586C>T |
p.P196S |
Missense |
10/53 |
- |
1 |
X-107819182-C-A |
c.589C>A |
p.P197T |
Missense |
10/53 |
- |
1 |
X-107819182-C-G |
c.589C>G |
p.P197A |
Missense |
10/53 |
- |
1 |
X-107819182-C-T |
c.589C>T |
p.P197S |
Missense |
10/53 |
- |
3 |
X-107819178-TC-T |
c.590del |
p.P197Qfs*6 |
Frameshift |
10/53 |
- |
1 |
X-107819183-C-A |
c.590C>A |
p.P197Q |
Missense |
10/53 |
- |
1 |
X-107819183-C-G |
c.590C>G |
p.P197R |
Missense |
10/53 |
- |
1 |
X-107819183-C-T |
c.590C>T |
p.P197L |
Missense |
10/53 |
- |
1 |
X-107819185-G-A |
c.592G>A |
p.G198R |
Missense |
10/53 |
- |
2 |
X-107819186-G-A |
c.593G>A |
p.G198E |
Missense |
10/53 |
- |
2 |
X-107819186-G-T |
c.593G>T |
p.G198V |
Missense |
10/53 |
- |
1 |
X-107819189-C-A |
c.596C>A |
p.P199Q |
Missense |
10/53 |
- |
1 |
X-107819189-C-T |
c.596C>T |
p.P199L |
Missense |
10/53 |
- |
1 |
X-107819194-G-C |
c.601G>C |
p.G201R |
Missense |
10/53 |
- |
3 |
X-107819194-G-T |
c.601G>T |
p.G201C |
Missense |
10/53 |
- |
1 |
X-107819195-G-A |
c.602G>A |
p.G201D |
Missense |
10/53 |
- |
1 |
X-107819195-G-C |
c.602G>C |
p.G201A |
Missense |
10/53 |
- |
2 |
X-107819195-G-T |
c.602G>T |
p.G201V |
Missense |
10/53 |
- |
2 |
X-107819198-T-C |
c.605T>C |
p.L202S |
Missense |
10/53 |
- |
1 |
X-107819199-G-A |
c.606G>A |
p.L202= |
Synonymous |
10/53 |
- |
1 |
X-107819199-G-C |
c.606G>C |
p.L202F |
Missense |
10/53 |
- |
1 |
X-107819203-G-A |
c.609+1G>A |
- |
IntronicSNV |
- |
10/52 |
1 |
X-107819207-G-A |
c.609+5G>A |
- |
IntronicSNV |
- |
10/52 |
1 |
X-107819223-T-C |
c.609+21T>C |
- |
IntronicSNV |
- |
10/52 |
8 |
X-107820077-G-T |
c.609+875G>T |
- |
IntronicSNV |
- |
10/52 |
2 |
X-107820081-A-G |
c.609+879A>G |
- |
IntronicSNV |
- |
10/52 |
1 |
X-107820877-T-A |
c.610-305T>A |
- |
IntronicSNV |
- |
10/52 |
1 |
X-107821182-G-A |
c.610G>A |
p.G204S |
Missense |
11/53 |
- |
1 |
X-107821182-G-C |
c.610G>C |
p.G204R |
Missense |
11/53 |
- |
1 |
X-107821179-TAGGGCCCTCCTGGTCCACC-T |
c.611_629del |
p.G204Dfs*11 |
SpliceAcceptorDeletion |
11/53 |
- |
1 |
X-107821183-G-A |
c.611G>A |
p.G204D |
Missense |
11/53 |
- |
4 |
X-107821183-GGC-G |
c.611_612del |
p.G204Afs*11 |
SpliceAcceptorDeletion |
11/53 |
- |
1 |
X-107821183-G-T |
c.611G>T |
p.G204V |
Missense |
11/53 |
- |
4 |
X-107821185-C-T |
c.613C>T |
p.P205S |
Missense |
11/53 |
- |
2 |
X-107821186-C-T |
c.614C>T |
p.P205L |
Missense |
11/53 |
- |
1 |
X-107821191-G-A |
c.619G>A |
p.G207S |
Missense |
11/53 |
- |
2 |
X-107821191-G-C |
c.619G>C |
p.G207R |
Missense |
11/53 |
- |
2 |
X-107821192-G-A |
c.620G>A |
p.G207D |
Missense |
11/53 |
- |
1 |
X-107821195-C-A |
c.623C>A |
p.P208Q |
Missense |
11/53 |
- |
1 |
X-107821195-C-T |
c.623C>T |
p.P208L |
Missense |
11/53 |
- |
1 |
X-107821198-C-G |
c.626C>G |
p.P209R |
Missense |
11/53 |
- |
1 |
X-107821198-C-T |
c.626C>T |
p.P209L |
Missense |
11/53 |
- |
1 |
X-107821200-G-T |
c.628G>T |
p.G210* |
Nonsense |
11/53 |
- |
3 |
X-107821201-G-A |
c.629G>A |
p.G210E |
Missense |
11/53 |
- |
1 |
X-107821201-G-C |
c.629G>C |
p.G210A |
Missense |
11/53 |
- |
1 |
X-107821201-G-T |
c.629G>T |
p.G210V |
Missense |
11/53 |
- |
1 |
X-107821203-CT-GC |
c.631_632delinsGC |
p.L211A |
Missense |
11/53 |
- |
1 |
X-107821206-TCCA-T |
c.634_636del |
p.P212del |
InFrameDeletion |
11/53 |
- |
1 |
X-107821205-TC-T |
c.635del |
p.P212Qfs*9 |
Frameshift |
11/53 |
- |
1 |
X-107821209-G-A |
c.637G>A |
p.G213R |
Missense |
11/53 |
- |
6 |
X-107821209-GGA-AGC |
c.637_639delinsAGC |
p.G213S |
Missense |
11/53 |
- |
1 |
X-107821210-G-A |
c.638G>A |
p.G213E |
Missense |
11/53 |
- |
3 |
X-107821210-G-T |
c.638G>T |
p.G213V |
Missense |
11/53 |
- |
2 |
X-107821211-A-C |
c.639A>C |
p.G213= |
Synonymous |
11/53 |
- |
1 |
X-107821211-A-G |
c.639A>G |
p.G213= |
Synonymous |
11/53 |
- |
1 |
X-107821211-A-T |
c.639A>T |
p.G213= |
Synonymous |
11/53 |
- |
2 |
X-107821218-G-T |
c.645+1G>T |
- |
IntronicSNV |
- |
11/52 |
1 |
X-107821219-T-C |
c.645+2T>C |
- |
IntronicSNV |
- |
11/52 |
1 |
X-107821308-G-A |
c.646G>A |
p.G216R |
Missense |
12/53 |
- |
4 |
X-107821308-G-C |
c.646G>C |
p.G216R |
Missense |
12/53 |
- |
1 |
X-107821308-GG-AA |
c.646_647delinsAA |
p.G216K |
Missense |
12/53 |
- |
1 |
X-107821308-G-T |
c.646G>T |
p.G216W |
Missense |
12/53 |
- |
1 |
X-107821309-G-A |
c.647G>A |
p.G216E |
Missense |
12/53 |
- |
10 |
X-107821309-G-C |
c.647G>C |
p.G216A |
Missense |
12/53 |
- |
1 |
X-107821309-G-T |
c.647G>T |
p.G216V |
Missense |
12/53 |
- |
4 |
X-107821306-A-AG |
c.648dup |
p.N217Efs*12 |
Frameshift |
12/53 |
- |
1 |
X-107821310-G-A |
c.648G>A |
p.G216= |
Synonymous |
12/53 |
- |
3 |
X-107821307-GGGGAATAT-G |
c.649_656del |
p.N217Lfs*9 |
Frameshift |
12/53 |
- |
1 |
X-107821311-A-C |
c.649A>C |
p.N217H |
Missense |
12/53 |
- |
2 |
X-107821312-A-G |
c.650A>G |
p.N217S |
Missense |
12/53 |
- |
1 |
X-107821317-G-A |
c.655G>A |
p.G219S |
Missense |
12/53 |
- |
3 |
X-107821317-G-T |
c.655G>T |
p.G219C |
Missense |
12/53 |
- |
3 |
X-107821318-G-A |
c.656G>A |
p.G219D |
Missense |
12/53 |
- |
1 |
X-107821321-T-A |
c.659T>A |
p.L220* |
Nonsense |
12/53 |
- |
1 |
X-107821323-A-G |
c.661A>G |
p.N221D |
Missense |
12/53 |
- |
2 |
X-107821324-A-G |
c.662A>G |
p.N221S |
Missense |
12/53 |
- |
1 |
X-107821327-T-G |
c.665T>G |
p.F222C |
Missense |
12/53 |
- |
5 |
X-107821328-C-T |
c.666C>T |
p.F222= |
Synonymous |
12/53 |
- |
4 |
X-107821329-C-G |
c.667C>G |
p.Q223E |
Missense |
12/53 |
- |
2 |
X-107821329-C-T |
c.667C>T |
p.Q223* |
Nonsense |
12/53 |
- |
2 |
X-107821332-G-A |
c.670G>A |
p.G224R |
Missense |
12/53 |
- |
1 |
X-107821332-GGA-TGT |
c.670_672delinsTGT |
p.G224C |
Missense |
12/53 |
- |
1 |
X-107821333-G-A |
c.671G>A |
p.G224E |
Missense |
12/53 |
- |
4 |
X-107821333-G-C |
c.671G>C |
p.G224A |
Missense |
12/53 |
- |
1 |
X-107821335-C-G |
c.673C>G |
p.P225A |
Missense |
12/53 |
- |
1 |
X-107821336-C-T |
c.674C>T |
p.P225L |
Missense |
12/53 |
- |
4 |
X-107821339-A-C |
c.677A>C |
p.K226T |
Missense |
12/53 |
- |
1 |
X-107821341-G-A |
c.679G>A |
p.G227S |
Missense |
12/53 |
- |
5 |
X-107821341-G-T |
c.679G>T |
p.G227C |
Missense |
12/53 |
- |
1 |
X-107821342-G-A |
c.680G>A |
p.G227D |
Missense |
12/53 |
- |
2 |
X-107821343-T-A |
c.681T>A |
p.G227= |
Synonymous |
12/53 |
- |
3 |
X-107821343-T-C |
c.681T>C |
p.G227= |
Synonymous |
12/53 |
- |
1 |
X-107821343-T-G |
c.681T>G |
p.G227= |
Synonymous |
12/53 |
- |
1 |
X-107821344-G-A |
c.682G>A |
p.E228K |
Missense |
12/53 |
- |
2 |
X-107821344-G-T |
c.682G>T |
p.E228* |
Nonsense |
12/53 |
- |
2 |
X-107821347-A-T |
c.685A>T |
p.K229* |
Nonsense |
12/53 |
- |
2 |
X-107821344-GA-G |
c.687del |
p.G230Vfs*24 |
Frameshift |
12/53 |
- |
1 |
X-107821350-G-A |
c.687+1G>A |
- |
IntronicSNV |
- |
12/52 |
4 |
X-107821351-T-C |
c.687+2T>C |
- |
IntronicSNV |
- |
12/52 |
1 |
X-107821354-G-A |
c.687+5G>A |
- |
IntronicSNV |
- |
12/52 |
2 |
X-107821521-G-A |
c.688G>A |
p.G230S |
Missense |
13/53 |
- |
5 |
X-107821521-G-C |
c.688G>C |
p.G230R |
Missense |
13/53 |
- |
3 |
X-107821521-G-T |
c.688G>T |
p.G230C |
Missense |
13/53 |
- |
1 |
X-107821519-AG-A |
c.689del |
p.G230Vfs*24 |
Frameshift |
13/53 |
- |
1 |
X-107821522-G-A |
c.689G>A |
p.G230D |
Missense |
13/53 |
- |
2 |
X-107821522-G-T |
c.689G>T |
p.G230V |
Missense |
13/53 |
- |
4 |
X-107821524-G-A |
c.691G>A |
p.E231K |
Missense |
13/53 |
- |
2 |
X-107821525-A-T |
c.692A>T |
p.E231V |
Missense |
13/53 |
- |
1 |
X-107821530-G-A |
c.697G>A |
p.G233S |
Missense |
13/53 |
- |
1 |
X-107821529-AG-A |
c.698del |
p.G233Vfs*21 |
Frameshift |
13/53 |
- |
1 |
X-107821531-G-C |
c.698G>C |
p.G233A |
Missense |
13/53 |
- |
1 |
X-107821531-G-T |
c.698G>T |
p.G233V |
Missense |
13/53 |
- |
3 |
X-107821533-C-G |
c.700C>G |
p.L234V |
Missense |
13/53 |
- |
1 |
X-107821533-CTT-ATG |
c.700_702delinsATG |
p.L234M |
Missense |
13/53 |
- |
1 |
X-107821534-T-C |
c.701T>C |
p.L234P |
Missense |
13/53 |
- |
1 |
X-107821534-T-G |
c.701T>G |
p.L234R |
Missense |
13/53 |
- |
1 |
X-107821536-C-T |
c.703C>T |
p.Q235* |
Nonsense |
13/53 |
- |
2 |
X-107821540-G-A |
c.707G>A |
p.G236D |
Missense |
13/53 |
- |
3 |
X-107821540-G-T |
c.707G>T |
p.G236V |
Missense |
13/53 |
- |
1 |
X-107821543-C-A |
c.710C>A |
p.P237Q |
Missense |
13/53 |
- |
1 |
X-107821543-C-T |
c.710C>T |
p.P237L |
Missense |
13/53 |
- |
1 |
X-107821546-C-G |
c.713C>G |
p.P238R |
Missense |
13/53 |
- |
2 |
X-107821548-G-A |
c.715G>A |
p.G239R |
Missense |
13/53 |
- |
2 |
X-107821549-G-A |
c.716G>A |
p.G239E |
Missense |
13/53 |
- |
4 |
X-107821550-G-T |
c.717G>T |
p.G239= |
Synonymous |
13/53 |
- |
1 |
X-107821552-C-A |
c.719C>A |
p.P240Q |
Missense |
13/53 |
- |
2 |
X-107821552-C-G |
c.719C>G |
p.P240R |
Missense |
13/53 |
- |
1 |
X-107821554-C-T |
c.721C>T |
p.P241S |
Missense |
13/53 |
- |
1 |
X-107821557-GG-TA |
c.724_725delinsTA |
p.G242* |
Nonsense |
13/53 |
- |
1 |
X-107821560-C-A |
c.727C>A |
p.Q243K |
Missense |
13/53 |
- |
1 |
X-107821562-G-C |
c.729G>C |
p.Q243H |
Missense |
13/53 |
- |
1 |
X-107821562-G-T |
c.729G>T |
p.Q243H |
Missense |
13/53 |
- |
1 |
X-107821563-A-T |
c.730A>T |
p.I244F |
Missense |
13/53 |
- |
1 |
X-107821567-G-C |
c.734G>C |
p.S245T |
Missense |
13/53 |
- |
1 |
X-107821568-T-C |
c.735T>C |
p.S245= |
Synonymous |
13/53 |
- |
1 |
X-107821570-A-G |
c.737A>G |
p.E246G |
Missense |
13/53 |
- |
2 |
X-107821570-A-T |
c.737A>T |
p.E246V |
Missense |
13/53 |
- |
1 |
X-107821574-G-A |
c.741G>A |
p.Q247= |
Synonymous |
13/53 |
- |
3 |
X-107821574-G-C |
c.741G>C |
p.Q247H |
Missense |
13/53 |
- |
1 |
X-107821574-G-T |
c.741G>T |
p.Q247H |
Missense |
13/53 |
- |
1 |
X-107821579-G-A |
c.746G>A |
p.R249K |
Missense |
13/53 |
- |
5 |
X-107821580-A-C |
c.747A>C |
p.R249S |
Missense |
13/53 |
- |
1 |
X-107821581-C-A |
c.748C>A |
p.P250T |
Missense |
13/53 |
- |
3 |
X-107821584-A-G |
c.751A>G |
p.I251V |
Missense |
13/53 |
- |
1 |
X-107821585-T-C |
c.752T>C |
p.I251T |
Missense |
13/53 |
- |
1 |
X-107821590-G-A |
c.757G>A |
p.V253I |
Missense |
13/53 |
- |
2 |
X-107821592-A-AT |
c.759_760insT |
p.E254* |
Nonsense |
13/53 |
- |
1 |
X-107821593-G-A |
c.760G>A |
p.E254K |
Missense |
13/53 |
- |
2 |
X-107821594-A-C |
c.761A>C |
p.E254A |
Missense |
13/53 |
- |
2 |
X-107821599-C-A |
c.766C>A |
p.Q256K |
Missense |
13/53 |
- |
1 |
X-107821601-G-A |
c.768G>A |
p.Q256= |
Synonymous |
13/53 |
- |
2 |
X-107821605-GGA-AGC |
c.772_774delinsAGC |
p.G258S |
Missense |
13/53 |
- |
1 |
X-107821605-G-T |
c.772G>T |
p.G258* |
Nonsense |
13/53 |
- |
3 |
X-107821606-G-A |
c.773G>A |
p.G258E |
Missense |
13/53 |
- |
3 |
X-107821608-G-A |
c.775G>A |
p.D259N |
Missense |
13/53 |
- |
2 |
X-107821608-G-C |
c.775G>C |
p.D259H |
Missense |
13/53 |
- |
1 |
X-107821608-G-T |
c.775G>T |
p.D259Y |
Missense |
13/53 |
- |
1 |
X-107821610-T-A |
c.777T>A |
p.D259E |
Missense |
13/53 |
- |
1 |
X-107821611-C-A |
c.778C>A |
p.Q260K |
Missense |
13/53 |
- |
1 |
X-107821611-C-T |
c.778C>T |
p.Q260* |
Nonsense |
13/53 |
- |
6 |
X-107821612-A-G |
c.779A>G |
p.Q260R |
Missense |
13/53 |
- |
2 |
X-107821613-G-A |
c.780G>A |
p.Q260= |
Synonymous |
13/53 |
- |
1 |
X-107821614-G-T |
c.780+1G>T |
- |
IntronicSNV |
- |
13/52 |
1 |
X-107821615-T-G |
c.780+2T>G |
- |
IntronicSNV |
- |
13/52 |
1 |
X-107821618-G-A |
c.780+5G>A |
- |
IntronicSNV |
- |
13/52 |
1 |
X-107823763-G-A |
c.781G>A |
p.G261R |
Missense |
14/53 |
- |
3 |
X-107823763-G-C |
c.781G>C |
p.G261R |
Missense |
14/53 |
- |
1 |
X-107823763-GG-AA |
c.781_782delinsAA |
p.G261K |
Missense |
14/53 |
- |
1 |
X-107823764-G-T |
c.782G>T |
p.G261V |
Missense |
14/53 |
- |
1 |
X-107823767-T-A |
c.785T>A |
p.L262H |
Missense |
14/53 |
- |
1 |
X-107823768-TC-T |
c.788del |
p.P263Lfs*83 |
Frameshift |
14/53 |
- |
1 |
X-107823772-G-A |
c.790G>A |
p.G264S |
Missense |
14/53 |
- |
1 |
X-107823772-G-C |
c.790G>C |
p.G264R |
Missense |
14/53 |
- |
3 |
X-107823772-G-T |
c.790G>T |
p.G264C |
Missense |
14/53 |
- |
2 |
X-107823771-TG-T |
c.791del |
p.G264Vfs*82 |
Frameshift |
14/53 |
- |
1 |
X-107823773-G-A |
c.791G>A |
p.G264D |
Missense |
14/53 |
- |
3 |
X-107823773-G-T |
c.791G>T |
p.G264V |
Missense |
14/53 |
- |
5 |
X-107823774-TG-CA |
c.792_793inv |
p.D265N |
Missense |
14/53 |
- |
1 |
X-107823775-G-A |
c.793G>A |
p.D265N |
Missense |
14/53 |
- |
1 |
X-107823778-C-G |
c.796C>G |
p.R266G |
Missense |
14/53 |
- |
3 |
X-107823778-C-T |
c.796C>T |
p.R266* |
Nonsense |
14/53 |
- |
6 |
X-107823779-G-A |
c.797G>A |
p.R266Q |
Missense |
14/53 |
- |
1 |
X-107823781-G-A |
c.799G>A |
p.G267R |
Missense |
14/53 |
- |
1 |
X-107823782-G-T |
c.800G>T |
p.G267V |
Missense |
14/53 |
- |
2 |
X-107823780-A-AG |
c.801dup |
p.P268Afs*17 |
Frameshift |
14/53 |
- |
1 |
X-107823784-C-A |
c.802C>A |
p.P268T |
Missense |
14/53 |
- |
1 |
X-107823787-C-A |
c.805C>A |
p.P269T |
Missense |
14/53 |
- |
1 |
X-107823790-G-A |
c.808G>A |
p.G270R |
Missense |
14/53 |
- |
1 |
X-107823791-G-A |
c.809G>A |
p.G270E |
Missense |
14/53 |
- |
1 |
X-107823792-AC-A |
c.812del |
p.P271Lfs*75 |
Frameshift |
14/53 |
- |
1 |
X-107823794-C-T |
c.812C>T |
p.P271L |
Missense |
14/53 |
- |
1 |
X-107823795-T-A |
c.813T>A |
p.P271= |
Synonymous |
14/53 |
- |
2 |
X-107823795-T-C |
c.813T>C |
p.P271= |
Synonymous |
14/53 |
- |
1 |
X-107823795-T-G |
c.813T>G |
p.P271= |
Synonymous |
14/53 |
- |
1 |
X-107823796-C-T |
c.814C>T |
p.P272S |
Missense |
14/53 |
- |
1 |
X-107823799-G-C |
c.817G>C |
p.G273R |
Missense |
14/53 |
- |
1 |
X-107823800-G-A |
c.818G>A |
p.G273E |
Missense |
14/53 |
- |
2 |
X-107823802-A-G |
c.820A>G |
p.I274V |
Missense |
14/53 |
- |
6 |
X-107823805-C-T |
c.823C>T |
p.R275C |
Missense |
14/53 |
- |
2 |
X-107823806-G-A |
c.824G>A |
p.R275H |
Missense |
14/53 |
- |
3 |
X-107823808-G-A |
c.826G>A |
p.G276S |
Missense |
14/53 |
- |
2 |
X-107823811-C-T |
c.829C>T |
p.P277S |
Missense |
14/53 |
- |
1 |
X-107823812-C-G |
c.830C>G |
p.P277R |
Missense |
14/53 |
- |
1 |
X-107823812-C-T |
c.830C>T |
p.P277L |
Missense |
14/53 |
- |
1 |
X-107823813-T-C |
c.831T>C |
p.P277= |
Synonymous |
14/53 |
- |
1 |
X-107823815-C-T |
c.833C>T |
p.P278L |
Missense |
14/53 |
- |
1 |
X-107823817-G-A |
c.834+1G>A |
- |
IntronicSNV |
- |
14/52 |
2 |
X-107823817-G-C |
c.834+1G>C |
- |
IntronicSNV |
- |
14/52 |
1 |
X-107823818-T-C |
c.834+2T>C |
- |
IntronicSNV |
- |
14/52 |
2 |
X-107823818-T-G |
c.834+2T>G |
- |
IntronicSNV |
- |
14/52 |
2 |
X-107823821-G-A |
c.834+5G>A |
- |
IntronicSNV |
- |
14/52 |
2 |
X-107823821-G-T |
c.834+5G>T |
- |
IntronicSNV |
- |
14/52 |
1 |
X-107823912-G-C |
c.835G>C |
p.G279R |
Missense |
15/53 |
- |
1 |
X-107823912-GG-AC |
c.835_836delinsAC |
p.G279T |
Missense |
15/53 |
- |
1 |
X-107823913-G-C |
c.836G>C |
p.G279A |
Missense |
15/53 |
- |
1 |
X-107823916-C-T |
c.839C>T |
p.P280L |
Missense |
15/53 |
- |
1 |
X-107823914-TC-T |
c.842del |
p.P281Qfs*65 |
Frameshift |
15/53 |
- |
1 |
X-107823921-G-C |
c.844G>C |
p.G282R |
Missense |
15/53 |
- |
1 |
X-107823922-G-A |
c.845G>A |
p.G282D |
Missense |
15/53 |
- |
1 |
X-107823925-G-T |
c.848G>T |
p.G283V |
Missense |
15/53 |
- |
1 |
X-107823928-A-T |
c.851A>T |
p.E284V |
Missense |
15/53 |
- |
1 |
X-107823933-G-A |
c.856G>A |
p.G286S |
Missense |
15/53 |
- |
1 |
X-107823933-G-T |
c.856G>T |
p.G286C |
Missense |
15/53 |
- |
4 |
X-107823936-G-T |
c.859G>T |
p.E287* |
Nonsense |
15/53 |
- |
2 |
X-107823938-G-A |
c.861G>A |
p.E287= |
Synonymous |
15/53 |
- |
1 |
X-107823939-A-G |
c.862A>G |
p.K288E |
Missense |
15/53 |
- |
1 |
X-107823938-GA-G |
c.863del |
p.K288Rfs*58 |
Frameshift |
15/53 |
- |
1 |
X-107823941-G-C |
c.864G>C |
p.K288N |
Missense |
15/53 |
- |
3 |
X-107823941-G-T |
c.864G>T |
p.K288N |
Missense |
15/53 |
- |
1 |
X-107823942-G-A |
c.865G>A |
p.G289S |
Missense |
15/53 |
- |
2 |
X-107823942-G-C |
c.865G>C |
p.G289R |
Missense |
15/53 |
- |
1 |
X-107823942-G-T |
c.865G>T |
p.G289C |
Missense |
15/53 |
- |
1 |
X-107823940-AG-A |
c.866del |
p.G289Vfs*57 |
Frameshift |
15/53 |
- |
1 |
X-107823943-G-C |
c.866G>C |
p.G289A |
Missense |
15/53 |
- |
1 |
X-107823943-G-T |
c.866G>T |
p.G289V |
Missense |
15/53 |
- |
3 |
X-107823944-T-C |
c.867T>C |
p.G289= |
Synonymous |
15/53 |
- |
1 |
X-107823945-GA-AG |
c.868_869delinsAG |
p.E290R |
Missense |
15/53 |
- |
1 |
X-107823945-GA-TC |
c.868_869inv |
p.E290S |
Missense |
15/53 |
- |
1 |
X-107823945-G-T |
c.868G>T |
p.E290* |
Nonsense |
15/53 |
- |
2 |
X-107823946-A-C |
c.869A>C |
p.E290A |
Missense |
15/53 |
- |
1 |
X-107823947-G-T |
c.870G>T |
p.E290D |
Missense |
15/53 |
- |
1 |
X-107823948-C-T |
c.871C>T |
p.Q291* |
Nonsense |
15/53 |
- |
1 |
X-107823949-A-C |
c.872A>C |
p.Q291P |
Missense |
15/53 |
- |
1 |
X-107823949-A-T |
c.872A>T |
p.Q291L |
Missense |
15/53 |
- |
1 |
X-107823948-CA-C |
c.873del |
p.G292Efs*54 |
Frameshift |
15/53 |
- |
1 |
X-107823951-G-A |
c.874G>A |
p.G292R |
Missense |
15/53 |
- |
2 |
X-107823951-G-C |
c.874G>C |
p.G292R |
Missense |
15/53 |
- |
5 |
X-107823950-AG-A |
c.875del |
p.G292Efs*54 |
Frameshift |
15/53 |
- |
1 |
X-107823952-G-A |
c.875G>A |
p.G292E |
Missense |
15/53 |
- |
4 |
X-107823952-G-C |
c.875G>C |
p.G292A |
Missense |
15/53 |
- |
1 |
X-107823952-G-T |
c.875G>T |
p.G292V |
Missense |
15/53 |
- |
4 |
X-107823953-A-C |
c.876A>C |
p.G292= |
Synonymous |
15/53 |
- |
3 |
X-107823953-A-G |
c.876A>G |
p.G292= |
Synonymous |
15/53 |
- |
3 |
X-107823953-A-T |
c.876A>T |
p.G292= |
Synonymous |
15/53 |
- |
5 |
X-107823954-G-A |
c.877G>A |
p.E293K |
Missense |
15/53 |
- |
1 |
X-107823954-G-C |
c.877G>C |
p.E293Q |
Missense |
15/53 |
- |
1 |
X-107823957-C-T |
c.880C>T |
p.P294S |
Missense |
15/53 |
- |
1 |
X-107823960-G-A |
c.883G>A |
p.G295S |
Missense |
15/53 |
- |
1 |
X-107823961-G-A |
c.884G>A |
p.G295D |
Missense |
15/53 |
- |
6 |
X-107823962-C-A |
c.885C>A |
p.G295= |
Synonymous |
15/53 |
- |
2 |
X-107823962-C-G |
c.885C>G |
p.G295= |
Synonymous |
15/53 |
- |
1 |
X-107823962-C-T |
c.885C>T |
p.G295= |
Synonymous |
15/53 |
- |
1 |
X-107823962-CAA-C |
c.888_889del |
p.G298* |
Frameshift |
15/53 |
- |
1 |
X-107823967-G-T |
c.890G>T |
p.R297I |
Missense |
15/53 |
- |
1 |
X-107823968-A-T |
c.891A>T |
p.R297S |
Missense |
15/53 |
- |
1 |
X-107823969-G-A |
c.891+1G>A |
- |
IntronicSNV |
- |
15/52 |
1 |
X-107823970-T-A |
c.891+2T>A |
- |
IntronicSNV |
- |
15/52 |
1 |
X-107824005-A-G |
c.891+37A>G |
- |
IntronicSNV |
- |
15/52 |
3 |
X-107824005-A-T |
c.891+37A>T |
- |
IntronicSNV |
- |
15/52 |
2 |
X-107824213-G-A |
c.892G>A |
p.G298S |
Missense |
16/53 |
- |
5 |
X-107824213-G-C |
c.892G>C |
p.G298R |
Missense |
16/53 |
- |
2 |
X-107824214-G-A |
c.893G>A |
p.G298D |
Missense |
16/53 |
- |
2 |
X-107824215-T-A |
c.894T>A |
p.G298= |
Synonymous |
16/53 |
- |
1 |
X-107824215-T-C |
c.894T>C |
p.G298= |
Synonymous |
16/53 |
- |
1 |
X-107824215-T-G |
c.894T>G |
p.G298= |
Synonymous |
16/53 |
- |
1 |
X-107824217-A-G |
c.896A>G |
p.K299R |
Missense |
16/53 |
- |
1 |
X-107824218-A-G |
c.897A>G |
p.K299= |
Synonymous |
16/53 |
- |
1 |
X-107824219-C-T |
c.898C>T |
p.P300S |
Missense |
16/53 |
- |
2 |
X-107824220-C-T |
c.899C>T |
p.P300L |
Missense |
16/53 |
- |
3 |
X-107824221-A-T |
c.900A>T |
p.P300= |
Synonymous |
16/53 |
- |
1 |
X-107824222-G-C |
c.901G>C |
p.G301R |
Missense |
16/53 |
- |
1 |
X-107824223-G-A |
c.902G>A |
p.G301D |
Missense |
16/53 |
- |
2 |
X-107824223-GC-AG |
c.902_903delinsAG |
p.G301E |
Missense |
16/53 |
- |
2 |
X-107824223-G-T |
c.902G>T |
p.G301V |
Missense |
16/53 |
- |
1 |
X-107824228-G-C |
c.907G>C |
p.D303H |
Missense |
16/53 |
- |
1 |
X-107824232-G-A |
c.911G>A |
p.G304E |
Missense |
16/53 |
- |
1 |
X-107824234-G-T |
c.913G>T |
p.E305* |
Nonsense |
16/53 |
- |
2 |
X-107824234-GA-G |
c.917del |
p.N306Mfs*40 |
Frameshift |
16/53 |
- |
2 |
X-107824238-A-G |
c.917A>G |
p.N306S |
Missense |
16/53 |
- |
1 |
X-107824240-G-A |
c.919G>A |
p.G307S |
Missense |
16/53 |
- |
1 |
X-107824239-TG-T |
c.920del |
p.G307Afs*39 |
Frameshift |
16/53 |
- |
1 |
X-107824241-G-A |
c.920G>A |
p.G307D |
Missense |
16/53 |
- |
5 |
X-107824242-C-T |
c.921C>T |
p.G307= |
Synonymous |
16/53 |
- |
1 |
X-107824243-C-T |
c.922C>T |
p.Q308* |
Nonsense |
16/53 |
- |
3 |
X-107824244-A-C |
c.923A>C |
p.Q308P |
Missense |
16/53 |
- |
1 |
X-107824245-A-T |
c.924A>T |
p.Q308H |
Missense |
16/53 |
- |
1 |
X-107824246-C-T |
c.925C>T |
p.P309S |
Missense |
16/53 |
- |
1 |
X-107824247-C-G |
c.926C>G |
p.P309R |
Missense |
16/53 |
- |
2 |
X-107824249-G-A |
c.928G>A |
p.G310R |
Missense |
16/53 |
- |
3 |
X-107824249-G-C |
c.928G>C |
p.G310R |
Missense |
16/53 |
- |
2 |
X-107824250-G-A |
c.929G>A |
p.G310E |
Missense |
16/53 |
- |
8 |
X-107824250-G-C |
c.929G>C |
p.G310A |
Missense |
16/53 |
- |
1 |
X-107824250-G-T |
c.929G>T |
p.G310V |
Missense |
16/53 |
- |
2 |
X-107824258-G-A |
c.936+1G>A |
- |
IntronicSNV |
- |
16/52 |
2 |
X-107824259-T-A |
c.936+2T>A |
- |
IntronicSNV |
- |
16/52 |
1 |
X-107825945-C-T |
c.937-169C>T |
- |
IntronicSNV |
- |
16/52 |
1 |
X-107826114-G-A |
c.937G>A |
p.G313S |
Missense |
17/53 |
- |
2 |
X-107826112-AG-A |
c.938del |
p.G313Vfs*33 |
Frameshift |
17/53 |
- |
1 |
X-107826115-G-C |
c.938G>C |
p.G313A |
Missense |
17/53 |
- |
1 |
X-107826115-G-T |
c.938G>T |
p.G313V |
Missense |
17/53 |
- |
3 |
X-107826120-C-T |
c.943C>T |
p.P315S |
Missense |
17/53 |
- |
1 |
X-107826119-GC-G |
c.944del |
p.P315Lfs*31 |
Frameshift |
17/53 |
- |
1 |
X-107826121-C-CT |
c.945dup |
p.G316Wfs*2 |
Frameshift |
17/53 |
- |
1 |
X-107826123-G-A |
c.946G>A |
p.G316S |
Missense |
17/53 |
- |
2 |
X-107826124-G-A |
c.947G>A |
p.G316D |
Missense |
17/53 |
- |
4 |
X-107826125-T-A |
c.948T>A |
p.G316= |
Synonymous |
17/53 |
- |
2 |
X-107826125-T-C |
c.948T>C |
p.G316= |
Synonymous |
17/53 |
- |
2 |
X-107826125-T-G |
c.948T>G |
p.G316= |
Synonymous |
17/53 |
- |
2 |
X-107826127-A-G |
c.950A>G |
p.D317G |
Missense |
17/53 |
- |
3 |
X-107826129-C-T |
c.952C>T |
p.P318S |
Missense |
17/53 |
- |
5 |
X-107826130-C-G |
c.953C>G |
p.P318R |
Missense |
17/53 |
- |
2 |
X-107826132-G-A |
c.955G>A |
p.G319S |
Missense |
17/53 |
- |
1 |
X-107826132-G-C |
c.955G>C |
p.G319R |
Missense |
17/53 |
- |
6 |
X-107826133-G-A |
c.956G>A |
p.G319D |
Missense |
17/53 |
- |
4 |
X-107826133-G-T |
c.956G>T |
p.G319V |
Missense |
17/53 |
- |
2 |
X-107826135-TAC-GAG |
c.958_960delinsGAG |
p.Y320E |
Missense |
17/53 |
- |
1 |
X-107826135-TA-GC |
c.958_959delinsGC |
p.Y320A |
Missense |
17/53 |
- |
1 |
X-107826137-C-A |
c.960C>A |
p.Y320* |
Nonsense |
17/53 |
- |
2 |
X-107826137-C-G |
c.960C>G |
p.Y320* |
Nonsense |
17/53 |
- |
1 |
X-107826138-C-T |
c.961C>T |
p.P321S |
Missense |
17/53 |
- |
2 |
X-107826142-G-A |
c.965G>A |
p.G322D |
Missense |
17/53 |
- |
3 |
X-107826142-G-T |
c.965G>T |
p.G322V |
Missense |
17/53 |
- |
2 |
X-107826142-GT-AG |
c.965_966delinsAG |
p.G322E |
Missense |
17/53 |
- |
1 |
X-107826146-A-G |
c.969A>G |
p.E323= |
Synonymous |
17/53 |
- |
1 |
X-107826147-C-T |
c.970C>T |
p.P324S |
Missense |
17/53 |
- |
1 |
X-107826150-G-A |
c.973G>A |
p.G325R |
Missense |
17/53 |
- |
11 |
X-107826150-G-C |
c.973G>C |
p.G325R |
Missense |
17/53 |
- |
6 |
X-107826150-GG-CA |
c.973_974delinsCA |
p.G325Q |
Missense |
17/53 |
- |
1 |
X-107826150-G-T |
c.973G>T |
p.G325* |
Nonsense |
17/53 |
- |
2 |
X-107826151-G-A |
c.974G>A |
p.G325E |
Missense |
17/53 |
- |
5 |
X-107826151-G-C |
c.974G>C |
p.G325A |
Missense |
17/53 |
- |
1 |
X-107826153-AG-CA |
c.976_977delinsCA |
p.R326Q |
Missense |
17/53 |
- |
1 |
X-107826154-GG-TC |
c.977_978delinsTC |
p.R326I |
Missense |
17/53 |
- |
2 |
X-107826154-GGGAT-G |
c.980_983del |
p.D327Vfs*18 |
Frameshift |
17/53 |
- |
2 |
X-107826157-A-G |
c.980A>G |
p.D327G |
Missense |
17/53 |
- |
1 |
X-107826158-T-A |
c.981T>A |
p.D327E |
Missense |
17/53 |
- |
2 |
X-107826158-T-C |
c.981T>C |
p.D327= |
Synonymous |
17/53 |
- |
1 |
X-107826158-T-G |
c.981T>G |
p.D327E |
Missense |
17/53 |
- |
1 |
X-107826162-G-T |
c.985G>T |
p.E329* |
Nonsense |
17/53 |
- |
1 |
X-107826163-A-G |
c.986A>G |
p.E329G |
Missense |
17/53 |
- |
1 |
X-107826165-AAAG-A |
c.988_990del |
p.K330del |
InFrameDeletion |
17/53 |
- |
1 |
X-107826162-GA-G |
c.989del |
p.K330Rfs*16 |
Frameshift |
17/53 |
- |
1 |
X-107826166-A-G |
c.989A>G |
p.K330R |
Missense |
17/53 |
- |
1 |
X-107826167-G-T |
c.990G>T |
p.K330N |
Missense |
17/53 |
- |
3 |
X-107827518-C-T |
c.991-196C>T |
- |
IntronicSNV |
- |
17/52 |
1 |
X-107827540-C-A |
c.991-174C>A |
- |
IntronicSNV |
- |
17/52 |
2 |
X-107827540-C-T |
c.991-174C>T |
- |
IntronicSNV |
- |
17/52 |
2 |
X-107827714-G-A |
c.991G>A |
p.G331S |
Missense |
18/53 |
- |
2 |
X-107827715-G-T |
c.992G>T |
p.G331V |
Missense |
18/53 |
- |
9 |
X-107827716-C-A |
c.993C>A |
p.G331= |
Synonymous |
18/53 |
- |
1 |
X-107827716-C-G |
c.993C>G |
p.G331= |
Synonymous |
18/53 |
- |
1 |
X-107827716-C-T |
c.993C>T |
p.G331= |
Synonymous |
18/53 |
- |
1 |
X-107827719-A-C |
c.996A>C |
p.Q332H |
Missense |
18/53 |
- |
1 |
X-107827720-A-G |
c.997A>G |
p.K333E |
Missense |
18/53 |
- |
1 |
X-107827723-G-A |
c.1000G>A |
p.G334S |
Missense |
18/53 |
- |
2 |
X-107827723-G-T |
c.1000G>T |
p.G334C |
Missense |
18/53 |
- |
1 |
X-107827724-G-T |
c.1001G>T |
p.G334V |
Missense |
18/53 |
- |
2 |
X-107827726-G-T |
c.1003G>T |
p.D335Y |
Missense |
18/53 |
- |
1 |
X-107827727-A-C |
c.1004A>C |
p.D335A |
Missense |
18/53 |
- |
1 |
X-107827728-C-A |
c.1005C>A |
p.D335E |
Missense |
18/53 |
- |
1 |
X-107827729-AC-TG |
c.1006_1007delinsTG |
p.T336C |
Missense |
18/53 |
- |
1 |
X-107827729-A-T |
c.1006A>T |
p.T336S |
Missense |
18/53 |
- |
1 |
X-107827732-G-A |
c.1009G>A |
p.G337S |
Missense |
18/53 |
- |
2 |
X-107827732-G-T |
c.1009G>T |
p.G337C |
Missense |
18/53 |
- |
1 |
X-107827733-G-A |
c.1010G>A |
p.G337D |
Missense |
18/53 |
- |
1 |
X-107827733-G-T |
c.1010G>T |
p.G337V |
Missense |
18/53 |
- |
3 |
X-107827735-C-A |
c.1012C>A |
p.P338T |
Missense |
18/53 |
- |
1 |
X-107827735-C-T |
c.1012C>T |
p.P338S |
Missense |
18/53 |
- |
4 |
X-107827736-C-A |
c.1013C>A |
p.P338Q |
Missense |
18/53 |
- |
1 |
X-107827738-C-A |
c.1015C>A |
p.P339T |
Missense |
18/53 |
- |
1 |
X-107827739-C-T |
c.1016C>T |
p.P339L |
Missense |
18/53 |
- |
1 |
X-107827741-G-A |
c.1018G>A |
p.G340R |
Missense |
18/53 |
- |
1 |
X-107827741-G-C |
c.1018G>C |
p.G340R |
Missense |
18/53 |
- |
1 |
X-107827745-C-A |
c.1022C>A |
p.P341H |
Missense |
18/53 |
- |
1 |
X-107827747-C-T |
c.1024C>T |
p.P342S |
Missense |
18/53 |
- |
5 |
X-107827752-A-C |
c.1029A>C |
p.G343= |
Synonymous |
18/53 |
- |
1 |
X-107827752-A-G |
c.1029A>G |
p.G343= |
Synonymous |
18/53 |
- |
1 |
X-107827752-A-T |
c.1029A>T |
p.G343= |
Synonymous |
18/53 |
- |
1 |
X-107827754-T-C |
c.1031T>C |
p.L344P |
Missense |
18/53 |
- |
4 |
X-107827754-T-G |
c.1031T>G |
p.L344R |
Missense |
18/53 |
- |
1 |
X-107827755-TGTAA-T |
c.1032+3_1032+6del |
- |
IntronicDeletion |
- |
18/52 |
1 |
X-107827760-G-A |
c.1032+5G>A |
- |
IntronicSNV |
- |
18/52 |
2 |
X-107827760-G-T |
c.1032+5G>T |
- |
IntronicSNV |
- |
18/52 |
1 |
X-107827760-GT-G |
c.1032+17del |
- |
IntronicDeletion |
- |
18/52 |
1 |
X-107827780-G-A |
c.1032+25G>A |
- |
IntronicSNV |
- |
18/52 |
4 |
X-107827780-G-C |
c.1032+25G>C |
- |
IntronicSNV |
- |
18/52 |
3 |
X-107827780-G-T |
c.1032+25G>T |
- |
IntronicSNV |
- |
18/52 |
3 |
X-107829773-C-T |
c.1033-72C>T |
- |
IntronicSNV |
- |
18/52 |
5 |
X-107829846-TA-AC |
c.1034_1035delinsAC |
p.V345D |
Missense |
19/53 |
- |
1 |
X-107829846-T-G |
c.1034T>G |
p.V345G |
Missense |
19/53 |
- |
2 |
X-107829851-C-T |
c.1039C>T |
p.P347S |
Missense |
19/53 |
- |
4 |
X-107829852-C-T |
c.1040C>T |
p.P347L |
Missense |
19/53 |
- |
1 |
X-107829855-G-A |
c.1043G>A |
p.R348K |
Missense |
19/53 |
- |
2 |
X-107829857-C-T |
c.1045C>T |
p.P349S |
Missense |
19/53 |
- |
1 |
X-107829858-C-T |
c.1046C>T |
p.P349L |
Missense |
19/53 |
- |
1 |
X-107829860-G-T |
c.1048G>T |
p.G350W |
Missense |
19/53 |
- |
3 |
X-107829862-G-A |
c.1050G>A |
p.G350= |
Synonymous |
19/53 |
- |
1 |
X-107829867-G-A |
c.1055G>A |
p.G352D |
Missense |
19/53 |
- |
1 |
X-107829869-A-G |
c.1057A>G |
p.I353V |
Missense |
19/53 |
- |
1 |
X-107829870-T-TA |
c.1060dup |
p.T354Nfs*57 |
Frameshift |
19/53 |
- |
1 |
X-107829872-A-G |
c.1060A>G |
p.T354A |
Missense |
19/53 |
- |
2 |
X-107829873-C-T |
c.1061C>T |
p.T354I |
Missense |
19/53 |
- |
2 |
X-107829873-C-CT |
c.1062dup |
p.I355Yfs*56 |
Frameshift |
19/53 |
- |
1 |
X-107829875-A-C |
c.1063A>C |
p.I355L |
Missense |
19/53 |
- |
1 |
X-107829876-T-A |
c.1064T>A |
p.I355K |
Missense |
19/53 |
- |
1 |
X-107829878-G-A |
c.1066G>A |
p.G356R |
Missense |
19/53 |
- |
3 |
X-107829878-G-C |
c.1066G>C |
p.G356R |
Missense |
19/53 |
- |
1 |
X-107829879-G-A |
c.1067G>A |
p.G356E |
Missense |
19/53 |
- |
6 |
X-107829879-G-C |
c.1067G>C |
p.G356A |
Missense |
19/53 |
- |
1 |
X-107829881-G-A |
c.1069G>A |
p.E357K |
Missense |
19/53 |
- |
1 |
X-107829883-A-C |
c.1071A>C |
p.E357D |
Missense |
19/53 |
- |
1 |
X-107829883-A-T |
c.1071A>T |
p.E357D |
Missense |
19/53 |
- |
5 |
X-107829884-A-G |
c.1072A>G |
p.K358E |
Missense |
19/53 |
- |
2 |
X-107829885-A-AC |
c.1073_1074insC |
p.K358Nfs*53 |
Frameshift |
19/53 |
- |
1 |
X-107829881-GA-G |
c.1074del |
p.G359Efs*115 |
Frameshift |
19/53 |
- |
1 |
X-107829887-G-A |
c.1075G>A |
p.G359R |
Missense |
19/53 |
- |
3 |
X-107829887-G-C |
c.1075G>C |
p.G359R |
Missense |
19/53 |
- |
1 |
X-107829888-G-A |
c.1076G>A |
p.G359E |
Missense |
19/53 |
- |
8 |
X-107829877-AGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCT-A |
c.1078_1113del |
p.N360_G371del |
InFrameDeletion |
19/53 |
- |
1 |
X-107829888-G-GA |
c.1079dup |
p.N360Kfs*51 |
Frameshift |
19/53 |
- |
1 |
X-107829891-A-G |
c.1079A>G |
p.N360S |
Missense |
19/53 |
- |
3 |
X-107829893-A-G |
c.1081A>G |
p.I361V |
Missense |
19/53 |
- |
1 |
X-107829894-T-C |
c.1082T>C |
p.I361T |
Missense |
19/53 |
- |
1 |
X-107829896-G-A |
c.1084G>A |
p.G362R |
Missense |
19/53 |
- |
2 |
X-107829897-G-A |
c.1085G>A |
p.G362E |
Missense |
19/53 |
- |
2 |
X-107829897-G-T |
c.1085G>T |
p.G362V |
Missense |
19/53 |
- |
2 |
X-107829900-T-G |
c.1088T>G |
p.L363W |
Missense |
19/53 |
- |
1 |
X-107829902-C-T |
c.1090C>T |
p.P364S |
Missense |
19/53 |
- |
1 |
X-107829906-G-A |
c.1094G>A |
p.G365E |
Missense |
19/53 |
- |
5 |
X-107829906-G-T |
c.1094G>T |
p.G365V |
Missense |
19/53 |
- |
1 |
X-107829894-TTGGGTTGCC-T |
c.1095_1103del |
p.L366_G368del |
InFrameDeletion |
19/53 |
- |
1 |
X-107829907-G-C |
c.1095G>C |
p.G365= |
Synonymous |
19/53 |
- |
10 |
X-107829908-T-C |
c.1096T>C |
p.L366= |
Synonymous |
19/53 |
- |
2 |
X-107829912-C-T |
c.1100C>T |
p.P367L |
Missense |
19/53 |
- |
6 |
X-107829914-G-A |
c.1102G>A |
p.G368R |
Missense |
19/53 |
- |
1 |
X-107829914-GGA-TGT |
c.1102_1104delinsTGT |
p.G368C |
Missense |
19/53 |
- |
2 |
X-107829915-G-A |
c.1103G>A |
p.G368E |
Missense |
19/53 |
- |
1 |
X-107829917-G-T |
c.1105G>T |
p.E369* |
Nonsense |
19/53 |
- |
2 |
X-107829919-A-C |
c.1107A>C |
p.E369D |
Missense |
19/53 |
- |
3 |
X-107829919-A-T |
c.1107A>T |
p.E369D |
Missense |
19/53 |
- |
2 |
X-107829922-A-C |
c.1110A>C |
p.K370N |
Missense |
19/53 |
- |
2 |
X-107829922-A-G |
c.1110A>G |
p.K370= |
Synonymous |
19/53 |
- |
1 |
X-107829922-A-T |
c.1110A>T |
p.K370N |
Missense |
19/53 |
- |
5 |
X-107829923-G-A |
c.1111G>A |
p.G371R |
Missense |
19/53 |
- |
6 |
X-107829923-G-C |
c.1111G>C |
p.G371R |
Missense |
19/53 |
- |
2 |
X-107829923-G-T |
c.1111G>T |
p.G371* |
Nonsense |
19/53 |
- |
1 |
X-107829924-G-A |
c.1112G>A |
p.G371E |
Missense |
19/53 |
- |
4 |
X-107829926-G-T |
c.1114G>T |
p.E372* |
Nonsense |
19/53 |
- |
2 |
X-107829928-G-C |
c.1116G>C |
p.E372D |
Missense |
19/53 |
- |
2 |
X-107829929-C-T |
c.1117C>T |
p.R373* |
Nonsense |
19/53 |
- |
10 |
X-107829930-G-A |
c.1118G>A |
p.R373Q |
Missense |
19/53 |
- |
8 |
X-107829932-G-A |
c.1120G>A |
p.G374R |
Missense |
19/53 |
- |
2 |
X-107829932-G-C |
c.1120G>C |
p.G374R |
Missense |
19/53 |
- |
1 |
X-107829932-G-T |
c.1120G>T |
p.G374* |
Nonsense |
19/53 |
- |
1 |
X-107829933-G-A |
c.1121G>A |
p.G374E |
Missense |
19/53 |
- |
4 |
X-107829933-G-C |
c.1121G>C |
p.G374A |
Missense |
19/53 |
- |
3 |
X-107829933-G-T |
c.1121G>T |
p.G374V |
Missense |
19/53 |
- |
2 |
X-107829935-T-C |
c.1123T>C |
p.F375L |
Missense |
19/53 |
- |
2 |
X-107829936-T-TCC |
c.1124_1125insCC |
p.P376Lfs*99 |
Frameshift |
19/53 |
- |
1 |
X-107829938-C-T |
c.1126C>T |
p.P376S |
Missense |
19/53 |
- |
6 |
X-107829939-C-G |
c.1127C>G |
p.P376R |
Missense |
19/53 |
- |
1 |
X-107829939-C-T |
c.1127C>T |
p.P376L |
Missense |
19/53 |
- |
1 |
X-107829941-G-A |
c.1129G>A |
p.G377R |
Missense |
19/53 |
- |
4 |
X-107829941-GGA-AGC |
c.1129_1131delinsAGC |
p.G377S |
Missense |
19/53 |
- |
2 |
X-107829942-G-A |
c.1130G>A |
p.G377E |
Missense |
19/53 |
- |
2 |
X-107829944-AATACAGG-A |
c.1132_1138del |
p.I378Vfs*94 |
Frameshift |
19/53 |
- |
1 |
X-107829947-C-T |
c.1135C>T |
p.Q379* |
Nonsense |
19/53 |
- |
2 |
X-107829950-G-C |
c.1138G>C |
p.G380R |
Missense |
19/53 |
- |
2 |
X-107829951-G-A |
c.1139G>A |
p.G380D |
Missense |
19/53 |
- |
3 |
X-107829952-T-A |
c.1140T>A |
p.G380= |
Synonymous |
19/53 |
- |
2 |
X-107829952-T-C |
c.1140T>C |
p.G380= |
Synonymous |
19/53 |
- |
3 |
X-107829952-T-G |
c.1140T>G |
p.G380= |
Synonymous |
19/53 |
- |
2 |
X-107829953-C-A |
c.1141C>A |
p.P381T |
Missense |
19/53 |
- |
1 |
X-107829953-C-T |
c.1141C>T |
p.P381S |
Missense |
19/53 |
- |
1 |
X-107829954-C-T |
c.1142C>T |
p.P381L |
Missense |
19/53 |
- |
1 |
X-107829959-G-C |
c.1147G>C |
p.G383R |
Missense |
19/53 |
- |
3 |
X-107829959-G-T |
c.1147G>T |
p.G383C |
Missense |
19/53 |
- |
2 |
X-107829960-G-A |
c.1148G>A |
p.G383D |
Missense |
19/53 |
- |
5 |
X-107829960-G-T |
c.1148G>T |
p.G383V |
Missense |
19/53 |
- |
2 |
X-107829962-C-T |
c.1150C>T |
p.L384F |
Missense |
19/53 |
- |
1 |
X-107829962-CT-C |
c.1152del |
p.P385Lfs*89 |
Frameshift |
19/53 |
- |
1 |
X-107829964-T-A |
c.1152T>A |
p.L384= |
Synonymous |
19/53 |
- |
2 |
X-107829964-T-C |
c.1152T>C |
p.L384= |
Synonymous |
19/53 |
- |
2 |
X-107829964-T-G |
c.1152T>G |
p.L384= |
Synonymous |
19/53 |
- |
2 |
X-107829965-C-T |
c.1153C>T |
p.P385S |
Missense |
19/53 |
- |
1 |
X-107829967-T-C |
c.1155T>C |
p.P385= |
Synonymous |
19/53 |
- |
1 |
X-107829971-C-A |
c.1159C>A |
p.P387T |
Missense |
19/53 |
- |
2 |
X-107829971-C-T |
c.1159C>T |
p.P387S |
Missense |
19/53 |
- |
1 |
X-107829974-CCA-GAC |
c.1162_1164delinsGAC |
p.P388D |
Missense |
19/53 |
- |
1 |
X-107829975-C-T |
c.1163C>T |
p.P388L |
Missense |
19/53 |
- |
1 |
X-107829977-G-A |
c.1165G>A |
p.G389R |
Missense |
19/53 |
- |
4 |
X-107829977-G-C |
c.1165G>C |
p.G389R |
Missense |
19/53 |
- |
1 |
X-107829978-G-A |
c.1165+1G>A |
- |
IntronicSNV |
- |
19/52 |
2 |
X-107829979-T-G |
c.1165+2T>G |
- |
IntronicSNV |
- |
19/52 |
1 |
X-107830175-G-A |
c.1165+198G>A |
- |
IntronicSNV |
- |
19/52 |
1 |
X-107830178-T-C |
c.1165+201T>C |
- |
IntronicSNV |
- |
19/52 |
1 |
X-107834288-G-A |
c.1166G>A |
p.G389E |
Missense |
20/53 |
- |
1 |
X-107834289-G-A |
c.1167G>A |
p.G389= |
Synonymous |
20/53 |
- |
1 |
X-107834289-G-C |
c.1167G>C |
p.G389= |
Synonymous |
20/53 |
- |
1 |
X-107834289-G-T |
c.1167G>T |
p.G389= |
Synonymous |
20/53 |
- |
1 |
X-107834290-G-A |
c.1168G>A |
p.A390T |
Missense |
20/53 |
- |
1 |
X-107834293-G-A |
c.1171G>A |
p.A391T |
Missense |
20/53 |
- |
1 |
X-107834293-G-T |
c.1171G>T |
p.A391S |
Missense |
20/53 |
- |
1 |
X-107834294-C-A |
c.1172C>A |
p.A391E |
Missense |
20/53 |
- |
1 |
X-107834302-G-A |
c.1180G>A |
p.G394S |
Missense |
20/53 |
- |
1 |
X-107834302-G-T |
c.1180G>T |
p.G394C |
Missense |
20/53 |
- |
1 |
X-107834300-TG-T |
c.1181del |
p.G394Vfs*80 |
Frameshift |
20/53 |
- |
1 |
X-107834303-GT-AG |
c.1181_1182delinsAG |
p.G394E |
Missense |
20/53 |
- |
1 |
X-107834305-C-T |
c.1183C>T |
p.P395S |
Missense |
20/53 |
- |
2 |
X-107834306-C-T |
c.1184C>T |
p.P395L |
Missense |
20/53 |
- |
1 |
X-107834308-C-T |
c.1186C>T |
p.P396S |
Missense |
20/53 |
- |
2 |
X-107834309-C-T |
c.1187C>T |
p.P396L |
Missense |
20/53 |
- |
2 |
X-107834311-G-C |
c.1189G>C |
p.G397R |
Missense |
20/53 |
- |
1 |
X-107834311-G-T |
c.1189G>T |
p.G397C |
Missense |
20/53 |
- |
2 |
X-107834312-G-T |
c.1190G>T |
p.G397V |
Missense |
20/53 |
- |
1 |
X-107834314-C-T |
c.1192C>T |
p.P398S |
Missense |
20/53 |
- |
1 |
X-107834315-C-T |
c.1193C>T |
p.P398L |
Missense |
20/53 |
- |
1 |
X-107834316-T-A |
c.1194T>A |
p.P398= |
Synonymous |
20/53 |
- |
1 |
X-107834316-T-C |
c.1194T>C |
p.P398= |
Synonymous |
20/53 |
- |
3 |
X-107834316-T-G |
c.1194T>G |
p.P398= |
Synonymous |
20/53 |
- |
1 |
X-107834317-C-A |
c.1195C>A |
p.P399T |
Missense |
20/53 |
- |
1 |
X-107834320-G-T |
c.1198G>T |
p.G400* |
Nonsense |
20/53 |
- |
1 |
X-107834321-G-A |
c.1199G>A |
p.G400E |
Missense |
20/53 |
- |
5 |
X-107834322-A-G |
c.1200A>G |
p.G400= |
Synonymous |
20/53 |
- |
1 |
X-107834323-T-A |
c.1201T>A |
p.F401I |
Missense |
20/53 |
- |
1 |
X-107834328-T-C |
c.1206T>C |
p.P402= |
Synonymous |
20/53 |
- |
1 |
X-107834330-G-A |
c.1208G>A |
p.G403E |
Missense |
20/53 |
- |
1 |
X-107834330-G-T |
c.1208G>T |
p.G403V |
Missense |
20/53 |
- |
3 |
X-107834333-A-C |
c.1211A>C |
p.E404A |
Missense |
20/53 |
- |
1 |
X-107834332-G-GA |
c.1213dup |
p.R405Kfs*6 |
Frameshift |
20/53 |
- |
2 |
X-107834335-AG-CA |
c.1213_1214delinsCA |
p.R405Q |
Missense |
20/53 |
- |
2 |
X-107834336-G-A |
c.1214G>A |
p.R405K |
Missense |
20/53 |
- |
2 |
X-107834336-G-GA |
c.1214_1215insA |
p.Q407Sfs*4 |
Frameshift |
20/53 |
- |
3 |
X-107834336-G-T |
c.1214G>T |
p.R405M |
Missense |
20/53 |
- |
1 |
X-107834337-G-T |
c.1215G>T |
p.R405S |
Missense |
20/53 |
- |
1 |
X-107834338-G-A |
c.1216G>A |
p.G406S |
Missense |
20/53 |
- |
3 |
X-107834338-G-C |
c.1216G>C |
p.G406R |
Missense |
20/53 |
- |
3 |
X-107834338-GG-CC |
c.1216_1217inv |
p.G406P |
Missense |
20/53 |
- |
1 |
X-107834338-G-T |
c.1216G>T |
p.G406C |
Missense |
20/53 |
- |
1 |
X-107834335-AG-A |
c.1217del |
p.G406Vfs*68 |
Frameshift |
20/53 |
- |
1 |
X-107834339-G-A |
c.1217G>A |
p.G406D |
Missense |
20/53 |
- |
2 |
X-107834339-G-T |
c.1217G>T |
p.G406V |
Missense |
20/53 |
- |
8 |
X-107834341-C-T |
c.1219C>T |
p.Q407* |
Nonsense |
20/53 |
- |
9 |
X-107834344-A-T |
c.1222A>T |
p.K408* |
Nonsense |
20/53 |
- |
2 |
X-107834347-G-A |
c.1225G>A |
p.G409S |
Missense |
20/53 |
- |
3 |
X-107834348-G-A |
c.1226G>A |
p.G409D |
Missense |
20/53 |
- |
6 |
X-107834348-G-C |
c.1226G>C |
p.G409A |
Missense |
20/53 |
- |
1 |
X-107834353-G-A |
c.1231G>A |
p.E411K |
Missense |
20/53 |
- |
4 |
X-107834356-G-A |
c.1234G>A |
p.G412R |
Missense |
20/53 |
- |
1 |
X-107834356-GGA-AGC |
c.1234_1236delinsAGC |
p.G412S |
Missense |
20/53 |
- |
1 |
X-107834356-G-T |
c.1234G>T |
p.G412* |
Nonsense |
20/53 |
- |
1 |
X-107834357-G-T |
c.1235G>T |
p.G412V |
Missense |
20/53 |
- |
5 |
X-107834360-C-T |
c.1238C>T |
p.P413L |
Missense |
20/53 |
- |
1 |
X-107834363-C-A |
c.1241C>A |
p.P414H |
Missense |
20/53 |
- |
1 |
X-107834364-T-C |
c.1242T>C |
p.P414= |
Synonymous |
20/53 |
- |
1 |
X-107834365-G-A |
c.1243G>A |
p.G415R |
Missense |
20/53 |
- |
3 |
X-107834365-G-C |
c.1243G>C |
p.G415R |
Missense |
20/53 |
- |
1 |
X-107834361-ACCTGGAATTTCCATTCCTGGACCT-A |
c.1246_1269del |
p.I416_G423del |
InFrameDeletion |
20/53 |
- |
1 |
X-107834368-A-G |
c.1246A>G |
p.I416V |
Missense |
20/53 |
- |
2 |
X-107834371-T-A |
c.1249T>A |
p.S417T |
Missense |
20/53 |
- |
1 |
X-107834371-TC-GG |
c.1249_1250delinsGG |
p.S417G |
Missense |
20/53 |
- |
1 |
X-107834371-T-G |
c.1249T>G |
p.S417A |
Missense |
20/53 |
- |
1 |
X-107834372-C-T |
c.1250C>T |
p.S417F |
Missense |
20/53 |
- |
8 |
X-107834373-C-T |
c.1251C>T |
p.S417= |
Synonymous |
20/53 |
- |
2 |
X-107834374-AT-A |
c.1254del |
p.P419Lfs*55 |
Frameshift |
20/53 |
- |
1 |
X-107834377-C-G |
c.1255C>G |
p.P419A |
Missense |
20/53 |
- |
2 |
X-107834377-C-T |
c.1255C>T |
p.P419S |
Missense |
20/53 |
- |
1 |
X-107834378-C-A |
c.1256C>A |
p.P419H |
Missense |
20/53 |
- |
3 |
X-107834380-G-A |
c.1258G>A |
p.G420R |
Missense |
20/53 |
- |
3 |
X-107834380-G-C |
c.1258G>C |
p.G420R |
Missense |
20/53 |
- |
1 |
X-107834381-G-A |
c.1259G>A |
p.G420E |
Missense |
20/53 |
- |
5 |
X-107834381-G-T |
c.1259G>T |
p.G420V |
Missense |
20/53 |
- |
4 |
X-107834384-C-T |
c.1262C>T |
p.P421L |
Missense |
20/53 |
- |
1 |
X-107834385-T-A |
c.1263T>A |
p.P421= |
Synonymous |
20/53 |
- |
1 |
X-107834385-T-C |
c.1263T>C |
p.P421= |
Synonymous |
20/53 |
- |
1 |
X-107834385-T-G |
c.1263T>G |
p.P421= |
Synonymous |
20/53 |
- |
2 |
X-107834386-C-G |
c.1264C>G |
p.P422A |
Missense |
20/53 |
- |
1 |
X-107834385-TC-T |
c.1265del |
p.P422Lfs*52 |
Frameshift |
20/53 |
- |
1 |
X-107834387-C-T |
c.1265C>T |
p.P422L |
Missense |
20/53 |
- |
1 |
X-107834388-T-A |
c.1266T>A |
p.P422= |
Synonymous |
20/53 |
- |
3 |
X-107834388-T-C |
c.1266T>C |
p.P422= |
Synonymous |
20/53 |
- |
2 |
X-107834388-T-G |
c.1266T>G |
p.P422= |
Synonymous |
20/53 |
- |
2 |
X-107834390-G-A |
c.1268G>A |
p.G423E |
Missense |
20/53 |
- |
4 |
X-107834391-GA-G |
c.1269del |
p.D425Tfs*49 |
Frameshift |
20/53 |
- |
1 |
X-107834397-C-T |
c.1275C>T |
p.D425= |
Synonymous |
20/53 |
- |
1 |
X-107834398-G-A |
c.1276G>A |
p.G426R |
Missense |
20/53 |
- |
8 |
X-107834398-G-C |
c.1276G>C |
p.G426R |
Missense |
20/53 |
- |
3 |
X-107834398-G-T |
c.1276G>T |
p.G426* |
Nonsense |
20/53 |
- |
1 |
X-107834399-GA-AC |
c.1277_1278delinsAC |
p.G426D |
Missense |
20/53 |
- |
1 |
X-107834401-C-CA |
c.1280dup |
p.P428Afs*20 |
Frameshift |
20/53 |
- |
1 |
X-107834403-G-A |
c.1281G>A |
p.Q427= |
Synonymous |
20/53 |
- |
2 |
X-107834405-C-G |
c.1283C>G |
p.P428R |
Missense |
20/53 |
- |
1 |
X-107834405-C-T |
c.1283C>T |
p.P428L |
Missense |
20/53 |
- |
1 |
X-107834408-G-A |
c.1286G>A |
p.G429E |
Missense |
20/53 |
- |
2 |
X-107834406-T-TG |
c.1288dup |
p.A430Gfs*18 |
Frameshift |
20/53 |
- |
1 |
X-107834410-G-A |
c.1288G>A |
p.A430T |
Missense |
20/53 |
- |
2 |
X-107834411-C-A |
c.1289C>A |
p.A430D |
Missense |
20/53 |
- |
9 |
X-107834411-C-T |
c.1289C>T |
p.A430V |
Missense |
20/53 |
- |
3 |
X-107834413-C-T |
c.1291C>T |
p.P431S |
Missense |
20/53 |
- |
2 |
X-107834415-T-C |
c.1293T>C |
p.P431= |
Synonymous |
20/53 |
- |
1 |
X-107834416-G-A |
c.1294G>A |
p.G432R |
Missense |
20/53 |
- |
2 |
X-107834417-G-A |
c.1295G>A |
p.G432E |
Missense |
20/53 |
- |
1 |
X-107834422-C-T |
c.1300C>T |
p.P434S |
Missense |
20/53 |
- |
3 |
X-107834423-C-A |
c.1301C>A |
p.P434Q |
Missense |
20/53 |
- |
1 |
X-107834423-C-G |
c.1301C>G |
p.P434R |
Missense |
20/53 |
- |
1 |
X-107834423-C-T |
c.1301C>T |
p.P434L |
Missense |
20/53 |
- |
3 |
X-107834426-G-A |
c.1304G>A |
p.G435E |
Missense |
20/53 |
- |
1 |
X-107834431-C-G |
c.1309C>G |
p.P437A |
Missense |
20/53 |
- |
1 |
X-107834432-C-T |
c.1310C>T |
p.P437L |
Missense |
20/53 |
- |
3 |
X-107834438-C-A |
c.1316C>A |
p.P439H |
Missense |
20/53 |
- |
1 |
X-107834441-C-T |
c.1319C>T |
p.A440V |
Missense |
20/53 |
- |
2 |
X-107834444-G-C |
c.1322G>C |
p.G441A |
Missense |
20/53 |
- |
1 |
X-107834446-C-T |
c.1324C>T |
p.P442S |
Missense |
20/53 |
- |
1 |
X-107834449-C-T |
c.1327C>T |
p.H443Y |
Missense |
20/53 |
- |
2 |
X-107834452-A-G |
c.1330A>G |
p.I444V |
Missense |
20/53 |
- |
1 |
X-107834453-T-G |
c.1331T>G |
p.I444S |
Missense |
20/53 |
- |
21 |
X-107834455-C-T |
c.1333C>T |
p.P445S |
Missense |
20/53 |
- |
1 |
X-107834454-TC-T |
c.1334del |
p.P445Lfs*29 |
Frameshift |
20/53 |
- |
1 |
X-107834457-T-A |
c.1335T>A |
p.P445= |
Synonymous |
20/53 |
- |
1 |
X-107834458-CCT-TAA |
c.1336_1338delinsTAA |
p.P446* |
Nonsense |
20/53 |
- |
1 |
X-107834467-C-G |
c.1339+6C>G |
- |
IntronicSNV |
- |
20/52 |
1 |
X-107834486-A-C |
c.1339+25A>C |
- |
IntronicSNV |
- |
20/52 |
1 |
X-107834642-A-G |
c.1340-149A>G |
- |
IntronicSNV |
- |
20/52 |
2 |
X-107834791-G-A |
c.1340G>A |
p.S447N |
Missense |
21/53 |
- |
1 |
X-107834791-GTGATGAGATATGTGAACCAGGCCCTCCAGGCCCCCCAGGATCTCCAGGTGATAAAGGAC-G |
c.1342_1400del |
p.D448Pfs*9 |
Unclassified |
21/53 |
- |
1 |
X-107834795-ATGAGATATGTGAACCAGGCCCTCCAGGCCCCCCAGGATCTCCAGGTGATAAAGGACTCC-A |
c.1344_1402del |
p.D448Efs*9 |
InFrameDeletion |
21/53 |
- |
1 |
X-107834797-A-T |
c.1346A>T |
p.E449V |
Missense |
21/53 |
- |
1 |
X-107834794-ATGAGATATG-A |
c.1347_1355del |
p.I450_E452del |
InFrameDeletion |
21/53 |
- |
1 |
X-107834798-GAT-G |
c.1350_1351del |
p.I450Mfs*2 |
Frameshift |
21/53 |
- |
1 |
X-107834801-A-G |
c.1350A>G |
p.I450M |
Missense |
21/53 |
- |
2 |
X-107834802-T-C |
c.1351T>C |
p.C451R |
Missense |
21/53 |
- |
3 |
X-107834802-T-G |
c.1351T>G |
p.C451G |
Missense |
21/53 |
- |
1 |
X-107834803-G-A |
c.1352G>A |
p.C451Y |
Missense |
21/53 |
- |
2 |
X-107834805-G-A |
c.1354G>A |
p.E452K |
Missense |
21/53 |
- |
1 |
X-107834806-A-C |
c.1355A>C |
p.E452A |
Missense |
21/53 |
- |
1 |
X-107834807-A-C |
c.1356A>C |
p.E452D |
Missense |
21/53 |
- |
1 |
X-107834811-G-T |
c.1360G>T |
p.G454C |
Missense |
21/53 |
- |
1 |
X-107834812-G-T |
c.1361G>T |
p.G454V |
Missense |
21/53 |
- |
1 |
X-107834814-C-T |
c.1363C>T |
p.P455S |
Missense |
21/53 |
- |
4 |
X-107834815-C-T |
c.1364C>T |
p.P455L |
Missense |
21/53 |
- |
2 |
X-107834819-A-C |
c.1368A>C |
p.P456= |
Synonymous |
21/53 |
- |
1 |
X-107834819-A-G |
c.1368A>G |
p.P456= |
Synonymous |
21/53 |
- |
1 |
X-107834819-A-T |
c.1368A>T |
p.P456= |
Synonymous |
21/53 |
- |
1 |
X-107834816-TCCAGGCCCC-T |
c.1371_1379del |
p.P458_G460del |
InFrameDeletion |
21/53 |
- |
1 |
X-107834823-C-A |
c.1372C>A |
p.P458T |
Missense |
21/53 |
- |
1 |
X-107834824-C-T |
c.1373C>T |
p.P458L |
Missense |
21/53 |
- |
2 |
X-107834825-C-T |
c.1374C>T |
p.P458= |
Synonymous |
21/53 |
- |
1 |
X-107834825-C-TT |
c.1374delinsTT |
p.P459Sfs*6 |
Frameshift |
21/53 |
- |
1 |
X-107834821-GC-G |
c.1376del |
p.P459Qfs*15 |
Frameshift |
21/53 |
- |
2 |
X-107834821-G-GC |
c.1376dup |
p.G460Rfs*5 |
Frameshift |
21/53 |
- |
4 |
X-107834827-C-G |
c.1376C>G |
p.P459R |
Missense |
21/53 |
- |
1 |
X-107834827-C-T |
c.1376C>T |
p.P459L |
Missense |
21/53 |
- |
2 |
X-107834827-C-CA |
c.1377dup |
p.G460Rfs*5 |
Frameshift |
21/53 |
- |
4 |
X-107834829-G-A |
c.1378G>A |
p.G460R |
Missense |
21/53 |
- |
6 |
X-107834829-G-C |
c.1378G>C |
p.G460R |
Missense |
21/53 |
- |
1 |
X-107834830-G-A |
c.1379G>A |
p.G460E |
Missense |
21/53 |
- |
7 |
X-107834833-C-A |
c.1382C>A |
p.S461Y |
Missense |
21/53 |
- |
1 |
X-107834835-C-T |
c.1384C>T |
p.P462S |
Missense |
21/53 |
- |
2 |
X-107834836-C-T |
c.1385C>T |
p.P462L |
Missense |
21/53 |
- |
1 |
X-107834838-G-A |
c.1387G>A |
p.G463S |
Missense |
21/53 |
- |
2 |
X-107834838-G-C |
c.1387G>C |
p.G463R |
Missense |
21/53 |
- |
2 |
X-107834842-A-G |
c.1391A>G |
p.D464G |
Missense |
21/53 |
- |
1 |
X-107834844-A-G |
c.1393A>G |
p.K465E |
Missense |
21/53 |
- |
3 |
X-107834847-G-A |
c.1396G>A |
p.G466R |
Missense |
21/53 |
- |
3 |
X-107834847-G-C |
c.1396G>C |
p.G466R |
Missense |
21/53 |
- |
3 |
X-107834847-G-T |
c.1396G>T |
p.G466* |
Nonsense |
21/53 |
- |
2 |
X-107834848-G-A |
c.1397G>A |
p.G466E |
Missense |
21/53 |
- |
4 |
X-107834850-C-A |
c.1399C>A |
p.L467I |
Missense |
21/53 |
- |
1 |
X-107834850-C-T |
c.1399C>T |
p.L467F |
Missense |
21/53 |
- |
1 |
X-107834852-C-A |
c.1401C>A |
p.L467= |
Synonymous |
21/53 |
- |
1 |
X-107834852-C-G |
c.1401C>G |
p.L467= |
Synonymous |
21/53 |
- |
1 |
X-107834852-C-T |
c.1401C>T |
p.L467= |
Synonymous |
21/53 |
- |
1 |
X-107834853-C-T |
c.1402C>T |
p.Q468* |
Nonsense |
21/53 |
- |
2 |
X-107834856-G-A |
c.1405G>A |
p.G469R |
Missense |
21/53 |
- |
2 |
X-107834856-GGA-AGC |
c.1405_1407delinsAGC |
p.G469S |
Missense |
21/53 |
- |
1 |
X-107834857-G-A |
c.1406G>A |
p.G469E |
Missense |
21/53 |
- |
4 |
X-107834862-C-T |
c.1411C>T |
p.Q471* |
Nonsense |
21/53 |
- |
3 |
X-107834863-A-G |
c.1412A>G |
p.Q471R |
Missense |
21/53 |
- |
2 |
X-107834865-G-A |
c.1414G>A |
p.G472R |
Missense |
21/53 |
- |
3 |
X-107834865-G-C |
c.1414G>C |
p.G472R |
Missense |
21/53 |
- |
1 |
X-107834866-G-A |
c.1415G>A |
p.G472E |
Missense |
21/53 |
- |
1 |
X-107834867-AGT-A |
c.1418_1419del |
p.V473Efs*3 |
Frameshift |
21/53 |
- |
1 |
X-107834868-G-GT |
c.1418dup |
p.K474Efs*3 |
Frameshift |
21/53 |
- |
1 |
X-107834870-G-C |
c.1419G>C |
p.V473= |
Synonymous |
21/53 |
- |
1 |
X-107834871-A-G |
c.1420A>G |
p.K474E |
Missense |
21/53 |
- |
1 |
X-107834874-G-A |
c.1423G>A |
p.G475S |
Missense |
21/53 |
- |
3 |
X-107834875-G-A |
c.1423+1G>A |
- |
IntronicSNV |
- |
21/52 |
2 |
X-107834875-G-T |
c.1423+1G>T |
- |
IntronicSNV |
- |
21/52 |
3 |
X-107834930-G-GC |
c.1423+57dup |
- |
IntronicInsertion |
- |
21/52 |
1 |
X-107835003-C-T |
c.1423+129C>T |
- |
IntronicSNV |
- |
21/52 |
1 |
X-107835073-C-T |
c.1423+199C>T |
- |
IntronicSNV |
- |
21/52 |
1 |
X-107838739-G-T |
c.1424G>T |
p.G475V |
Missense |
22/53 |
- |
1 |
X-107838742-A-G |
c.1427A>G |
p.D476G |
Missense |
22/53 |
- |
1 |
X-107838747-G-A |
c.1432G>A |
p.G478S |
Missense |
22/53 |
- |
1 |
X-107838750-G-T |
c.1435G>T |
p.D479Y |
Missense |
22/53 |
- |
7 |
X-107838756-T-A |
c.1441T>A |
p.C481S |
Missense |
22/53 |
- |
1 |
X-107838756-T-C |
c.1441T>C |
p.C481R |
Missense |
22/53 |
- |
1 |
X-107838757-G-C |
c.1442G>C |
p.C481S |
Missense |
22/53 |
- |
1 |
X-107838756-T-TG |
c.1442dup |
p.C481Wfs*64 |
Frameshift |
22/53 |
- |
1 |
X-107838758-C-A |
c.1443C>A |
p.C481* |
Nonsense |
22/53 |
- |
2 |
X-107838762-A-C |
c.1447A>C |
p.N483H |
Missense |
22/53 |
- |
2 |
X-107838765-T-G |
c.1450T>G |
p.C484G |
Missense |
22/53 |
- |
2 |
X-107838768-A-G |
c.1453A>G |
p.I485V |
Missense |
22/53 |
- |
1 |
X-107838769-T-A |
c.1454T>A |
p.I485N |
Missense |
22/53 |
- |
1 |
X-107838769-T-C |
c.1454T>C |
p.I485T |
Missense |
22/53 |
- |
1 |
X-107838772-G-A |
c.1457G>A |
p.G486E |
Missense |
22/53 |
- |
3 |
X-107838773-A-C |
c.1458A>C |
p.G486= |
Synonymous |
22/53 |
- |
1 |
X-107838773-A-G |
c.1458A>G |
p.G486= |
Synonymous |
22/53 |
- |
1 |
X-107838776-T-C |
c.1461T>C |
p.T487= |
Synonymous |
22/53 |
- |
2 |
X-107838778-G-C |
c.1463G>C |
p.G488A |
Missense |
22/53 |
- |
1 |
X-107838784-C-T |
c.1469C>T |
p.S490L |
Missense |
22/53 |
- |
4 |
X-107838786-G-A |
c.1471G>A |
p.G491R |
Missense |
22/53 |
- |
4 |
X-107838786-G-C |
c.1471G>C |
p.G491R |
Missense |
22/53 |
- |
3 |
X-107838787-G-A |
c.1472G>A |
p.G491E |
Missense |
22/53 |
- |
5 |
X-107838789-C-G |
c.1474C>G |
p.P492A |
Missense |
22/53 |
- |
2 |
X-107838789-C-T |
c.1474C>T |
p.P492S |
Missense |
22/53 |
- |
1 |
X-107838790-C-T |
c.1475C>T |
p.P492L |
Missense |
22/53 |
- |
1 |
X-107838793-C-T |
c.1478C>T |
p.P493L |
Missense |
22/53 |
- |
1 |
X-107838795-G-A |
c.1480G>A |
p.G494S |
Missense |
22/53 |
- |
3 |
X-107838795-G-C |
c.1480G>C |
p.G494R |
Missense |
22/53 |
- |
3 |
X-107838796-G-A |
c.1481G>A |
p.G494D |
Missense |
22/53 |
- |
4 |
X-107838796-G-C |
c.1481G>C |
p.G494A |
Missense |
22/53 |
- |
1 |
X-107838797-T-TC |
c.1483dup |
p.Q495Pfs*50 |
Frameshift |
22/53 |
- |
1 |
X-107838798-C-A |
c.1483C>A |
p.Q495K |
Missense |
22/53 |
- |
1 |
X-107838798-TCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAG-T |
c.1483_1516del |
p.Q495Dfs*51 |
SpliceDonorDeletion |
22/53 |
- |
1 |
X-107838801-C-G |
c.1486C>G |
p.P496A |
Missense |
22/53 |
- |
1 |
X-107838804-G-T |
c.1489G>T |
p.G497C |
Missense |
22/53 |
- |
3 |
X-107838809-G-C |
c.1494G>C |
p.L498F |
Missense |
22/53 |
- |
1 |
X-107838809-G-T |
c.1494G>T |
p.L498F |
Missense |
22/53 |
- |
2 |
X-107838811-C-T |
c.1496C>T |
p.P499L |
Missense |
22/53 |
- |
1 |
X-107838813-G-C |
c.1498G>C |
p.G500R |
Missense |
22/53 |
- |
3 |
X-107838814-G-T |
c.1499G>T |
p.G500V |
Missense |
22/53 |
- |
1 |
X-107838818-C-A |
c.1503C>A |
p.L501= |
Synonymous |
22/53 |
- |
2 |
X-107838818-C-G |
c.1503C>G |
p.L501= |
Synonymous |
22/53 |
- |
2 |
X-107838818-C-T |
c.1503C>T |
p.L501= |
Synonymous |
22/53 |
- |
5 |
X-107838819-C-G |
c.1504C>G |
p.P502A |
Missense |
22/53 |
- |
1 |
X-107838819-C-T |
c.1504C>T |
p.P502S |
Missense |
22/53 |
- |
1 |
X-107838820-C-T |
c.1505C>T |
p.P502L |
Missense |
22/53 |
- |
1 |
X-107838822-G-C |
c.1507G>C |
p.G503R |
Missense |
22/53 |
- |
2 |
X-107838823-G-T |
c.1508G>T |
p.G503V |
Missense |
22/53 |
- |
2 |
X-107838825-C-T |
c.1510C>T |
p.P504S |
Missense |
22/53 |
- |
7 |
X-107838826-C-T |
c.1511C>T |
p.P504L |
Missense |
22/53 |
- |
3 |
X-107838828-C-A |
c.1513C>A |
p.P505T |
Missense |
22/53 |
- |
1 |
X-107838829-C-G |
c.1514C>G |
p.P505R |
Missense |
22/53 |
- |
2 |
X-107838829-C-T |
c.1514C>T |
p.P505L |
Missense |
22/53 |
- |
1 |
X-107838831-G-A |
c.1516G>A |
p.G506R |
Missense |
22/53 |
- |
1 |
X-107838832-G-A |
c.1516+1G>A |
- |
IntronicSNV |
- |
22/52 |
1 |
X-107840205-T-G |
c.1517-23T>G |
- |
IntronicSNV |
- |
22/52 |
1 |
X-107840228-G-A |
c.1517G>A |
p.G506E |
Missense |
23/53 |
- |
1 |
X-107840230-T-C |
c.1519T>C |
p.S507P |
Missense |
23/53 |
- |
3 |
X-107840231-C-A |
c.1520C>A |
p.S507Y |
Missense |
23/53 |
- |
1 |
X-107840233-C-G |
c.1522C>G |
p.L508V |
Missense |
23/53 |
- |
1 |
X-107840236-G-A |
c.1525G>A |
p.G509S |
Missense |
23/53 |
- |
1 |
X-107840236-G-C |
c.1525G>C |
p.G509R |
Missense |
23/53 |
- |
2 |
X-107840236-G-T |
c.1525G>T |
p.G509C |
Missense |
23/53 |
- |
2 |
X-107840237-G-A |
c.1526G>A |
p.G509D |
Missense |
23/53 |
- |
4 |
X-107840243-C-A |
c.1532C>A |
p.P511H |
Missense |
23/53 |
- |
2 |
X-107840245-G-A |
c.1534G>A |
p.G512R |
Missense |
23/53 |
- |
1 |
X-107840246-G-A |
c.1535G>A |
p.G512E |
Missense |
23/53 |
- |
1 |
X-107840250-G-C |
c.1539G>C |
p.Q513H |
Missense |
23/53 |
- |
1 |
X-107840251-A-G |
c.1540A>G |
p.K514E |
Missense |
23/53 |
- |
1 |
X-107840253-AAG-A |
c.1542_1543del |
p.E516Kfs*28 |
Frameshift |
23/53 |
- |
1 |
X-107840253-A-G |
c.1542A>G |
p.K514= |
Synonymous |
23/53 |
- |
1 |
X-107840254-G-A |
c.1543G>A |
p.G515R |
Missense |
23/53 |
- |
2 |
X-107840255-G-A |
c.1544G>A |
p.G515E |
Missense |
23/53 |
- |
2 |
X-107840255-G-T |
c.1544G>T |
p.G515V |
Missense |
23/53 |
- |
1 |
X-107840256-G-A |
c.1545G>A |
p.G515= |
Synonymous |
23/53 |
- |
1 |
X-107840257-G-A |
c.1546G>A |
p.E516K |
Missense |
23/53 |
- |
5 |
X-107840257-G-C |
c.1546G>C |
p.E516Q |
Missense |
23/53 |
- |
2 |
X-107840262-A-G |
c.1551A>G |
p.K517= |
Synonymous |
23/53 |
- |
1 |
X-107840263-G-A |
c.1552G>A |
p.G518R |
Missense |
23/53 |
- |
1 |
X-107840264-G-A |
c.1553G>A |
p.G518E |
Missense |
23/53 |
- |
1 |
X-107840272-G-A |
c.1561G>A |
p.G521S |
Missense |
23/53 |
- |
2 |
X-107840272-GGT-TGA |
c.1561_1563delinsTGA |
p.G521* |
Nonsense |
23/53 |
- |
1 |
X-107840272-G-T |
c.1561G>T |
p.G521C |
Missense |
23/53 |
- |
3 |
X-107840273-G-A |
c.1562G>A |
p.G521D |
Missense |
23/53 |
- |
3 |
X-107840276-C-A |
c.1565C>A |
p.A522E |
Missense |
23/53 |
- |
1 |
X-107840276-CA-C |
c.1567del |
p.T523Lfs*34 |
Frameshift |
23/53 |
- |
1 |
X-107840281-G-A |
c.1570G>A |
p.G524S |
Missense |
23/53 |
- |
1 |
X-107840281-G-T |
c.1570G>T |
p.G524C |
Missense |
23/53 |
- |
2 |
X-107840282-G-A |
c.1571G>A |
p.G524D |
Missense |
23/53 |
- |
4 |
X-107840286-C-A |
c.1575C>A |
p.P525= |
Synonymous |
23/53 |
- |
1 |
X-107840287-A-G |
c.1576A>G |
p.K526E |
Missense |
23/53 |
- |
1 |
X-107840290-G-A |
c.1579G>A |
p.G527R |
Missense |
23/53 |
- |
2 |
X-107840290-GGA-TGT |
c.1579_1581delinsTGT |
p.G527C |
Missense |
23/53 |
- |
2 |
X-107840291-G-A |
c.1580G>A |
p.G527E |
Missense |
23/53 |
- |
2 |
X-107840291-G-C |
c.1580G>C |
p.G527A |
Missense |
23/53 |
- |
1 |
X-107840291-GGAT-G |
c.1580_1582del |
p.G527_L528delinsV |
MultiAAMissense |
23/53 |
- |
1 |
X-107840291-G-T |
c.1580G>T |
p.G527V |
Missense |
23/53 |
- |
1 |
X-107840297-C-A |
c.1586C>A |
p.P529Q |
Missense |
23/53 |
- |
2 |
X-107840299-AG-A |
c.1587+1del |
- |
IntronicDeletion |
- |
23/52 |
1 |
X-107840299-G-A |
c.1587+1G>A |
- |
IntronicSNV |
- |
23/52 |
2 |
X-107840335-G-T |
c.1587+37G>T |
- |
IntronicSNV |
- |
23/52 |
1 |
X-107840434-A-G |
c.1587+136A>G |
- |
IntronicSNV |
- |
23/52 |
5 |
X-107840434-A-T |
c.1587+136A>T |
- |
IntronicSNV |
- |
23/52 |
4 |
X-107840607-G-A |
c.1588G>A |
p.G530S |
Missense |
24/53 |
- |
1 |
X-107840608-G-A |
c.1589G>A |
p.G530D |
Missense |
24/53 |
- |
3 |
X-107840613-C-T |
c.1594C>T |
p.P532S |
Missense |
24/53 |
- |
1 |
X-107840615-A-C |
c.1596A>C |
p.P532= |
Synonymous |
24/53 |
- |
1 |
X-107840615-A-G |
c.1596A>G |
p.P532= |
Synonymous |
24/53 |
- |
1 |
X-107840615-A-T |
c.1596A>T |
p.P532= |
Synonymous |
24/53 |
- |
2 |
X-107840617-G-A |
c.1598G>A |
p.G533E |
Missense |
24/53 |
- |
5 |
X-107840618-A-C |
c.1599A>C |
p.G533= |
Synonymous |
24/53 |
- |
1 |
X-107840618-A-G |
c.1599A>G |
p.G533= |
Synonymous |
24/53 |
- |
1 |
X-107840618-A-T |
c.1599A>T |
p.G533= |
Synonymous |
24/53 |
- |
1 |
X-107840625-G-A |
c.1606G>A |
p.G536S |
Missense |
24/53 |
- |
2 |
X-107840625-GGT-TGG |
c.1606_1608delinsTGG |
p.G536W |
Missense |
24/53 |
- |
1 |
X-107840625-G-T |
c.1606G>T |
p.G536C |
Missense |
24/53 |
- |
1 |
X-107840626-G-A |
c.1607G>A |
p.G536D |
Missense |
24/53 |
- |
4 |
X-107840626-G-C |
c.1607G>C |
p.G536A |
Missense |
24/53 |
- |
2 |
X-107840627-T-C |
c.1608T>C |
p.G536= |
Synonymous |
24/53 |
- |
1 |
X-107840628-G-T |
c.1609G>T |
p.A537S |
Missense |
24/53 |
- |
2 |
X-107840635-G-T |
c.1616G>T |
p.G539V |
Missense |
24/53 |
- |
2 |
X-107840636-C-T |
c.1617C>T |
p.G539= |
Synonymous |
24/53 |
- |
3 |
X-107840637-T-C |
c.1618T>C |
p.F540L |
Missense |
24/53 |
- |
1 |
X-107840641-C-T |
c.1622C>T |
p.P541L |
Missense |
24/53 |
- |
2 |
X-107840643-G-T |
c.1624G>T |
p.G542* |
Nonsense |
24/53 |
- |
6 |
X-107840644-G-A |
c.1625G>A |
p.G542E |
Missense |
24/53 |
- |
5 |
X-107840647-C-G |
c.1628C>G |
p.S543C |
Missense |
24/53 |
- |
2 |
X-107840649-A-G |
c.1630A>G |
p.K544E |
Missense |
24/53 |
- |
1 |
X-107840652-G-A |
c.1633G>A |
p.G545S |
Missense |
24/53 |
- |
3 |
X-107840652-G-C |
c.1633G>C |
p.G545R |
Missense |
24/53 |
- |
3 |
X-107840653-G-A |
c.1634G>A |
p.G545D |
Missense |
24/53 |
- |
2 |
X-107840653-G-C |
c.1634G>C |
p.G545A |
Missense |
24/53 |
- |
1 |
X-107840653-G-T |
c.1634G>T |
p.G545V |
Missense |
24/53 |
- |
4 |
X-107840655-G-C |
c.1636G>C |
p.E546Q |
Missense |
24/53 |
- |
1 |
X-107840656-A-C |
c.1637A>C |
p.E546A |
Missense |
24/53 |
- |
1 |
X-107840658-C-G |
c.1639C>G |
p.P547A |
Missense |
24/53 |
- |
1 |
X-107840658-C-T |
c.1639C>T |
p.P547S |
Missense |
24/53 |
- |
2 |
X-107840659-C-A |
c.1640C>A |
p.P547H |
Missense |
24/53 |
- |
3 |
X-107840659-C-T |
c.1640C>T |
p.P547L |
Missense |
24/53 |
- |
1 |
X-107840662-G-A |
c.1643G>A |
p.G548D |
Missense |
24/53 |
- |
4 |
X-107840664-G-A |
c.1645G>A |
p.D549N |
Missense |
24/53 |
- |
1 |
X-107840666-T-TA |
c.1648dup |
p.I550Nfs*10 |
Frameshift |
24/53 |
- |
1 |
X-107840671-T-TTC |
c.1652_1653insTC |
p.T552Pfs*6 |
Frameshift |
24/53 |
- |
1 |
X-107840672-TC-T |
c.1653del |
p.T552Lfs*5 |
Frameshift |
24/53 |
- |
1 |
X-107840674-C-A |
c.1655C>A |
p.T552N |
Missense |
24/53 |
- |
1 |
X-107840675-T-A |
c.1656T>A |
p.T552= |
Synonymous |
24/53 |
- |
1 |
X-107840675-T-C |
c.1656T>C |
p.T552= |
Synonymous |
24/53 |
- |
1 |
X-107840675-T-G |
c.1656T>G |
p.T552= |
Synonymous |
24/53 |
- |
2 |
X-107840677-T-C |
c.1658T>C |
p.F553S |
Missense |
24/53 |
- |
1 |
X-107840679-C-T |
c.1660C>T |
p.P554S |
Missense |
24/53 |
- |
5 |
X-107840682-G-A |
c.1663G>A |
p.G555R |
Missense |
24/53 |
- |
1 |
X-107840687-G-A |
c.1668G>A |
p.M556I |
Missense |
24/53 |
- |
5 |
X-107840689-A-G |
c.1670A>G |
p.K557R |
Missense |
24/53 |
- |
2 |
X-107840691-G-A |
c.1672G>A |
p.G558S |
Missense |
24/53 |
- |
4 |
X-107840691-G-C |
c.1672G>C |
p.G558R |
Missense |
24/53 |
- |
5 |
X-107840692-G-A |
c.1673G>A |
p.G558D |
Missense |
24/53 |
- |
8 |
X-107840694-G-T |
c.1675G>T |
p.D559Y |
Missense |
24/53 |
- |
1 |
X-107840697-A-T |
c.1678A>T |
p.K560* |
Nonsense |
24/53 |
- |
1 |
X-107840700-G-A |
c.1681G>A |
p.G561R |
Missense |
24/53 |
- |
5 |
X-107840700-G-C |
c.1681G>C |
p.G561R |
Missense |
24/53 |
- |
1 |
X-107840703-G-A |
c.1684G>A |
p.E562K |
Missense |
24/53 |
- |
1 |
X-107840706-T-C |
c.1687T>C |
p.L563= |
Synonymous |
24/53 |
- |
1 |
X-107840708-G-A |
c.1689G>A |
p.L563= |
Synonymous |
24/53 |
- |
1 |
X-107840709-G-A |
c.1690G>A |
p.G564S |
Missense |
24/53 |
- |
1 |
X-107840709-G-C |
c.1690G>C |
p.G564R |
Missense |
24/53 |
- |
2 |
X-107840709-G-T |
c.1690G>T |
p.G564C |
Missense |
24/53 |
- |
4 |
X-107840710-G-A |
c.1691G>A |
p.G564D |
Missense |
24/53 |
- |
1 |
X-107840713-C-T |
c.1694C>T |
p.S565F |
Missense |
24/53 |
- |
1 |
X-107840716-C-A |
c.1697C>A |
p.P566H |
Missense |
24/53 |
- |
1 |
X-107840716-C-T |
c.1697C>T |
p.P566L |
Missense |
24/53 |
- |
1 |
X-107840717-T-A |
c.1698T>A |
p.P566= |
Synonymous |
24/53 |
- |
2 |
X-107840717-T-C |
c.1698T>C |
p.P566= |
Synonymous |
24/53 |
- |
2 |
X-107840717-T-G |
c.1698T>G |
p.P566= |
Synonymous |
24/53 |
- |
1 |
X-107840719-G-A |
c.1700G>A |
p.G567E |
Missense |
24/53 |
- |
5 |
X-107840719-G-C |
c.1700G>C |
p.G567A |
Missense |
24/53 |
- |
4 |
X-107840721-G-A |
c.1702G>A |
p.A568T |
Missense |
24/53 |
- |
1 |
X-107840727-G-A |
c.1708G>A |
p.G570R |
Missense |
24/53 |
- |
3 |
X-107840728-G-A |
c.1709G>A |
p.G570E |
Missense |
24/53 |
- |
3 |
X-107840729-G-A |
c.1710G>A |
p.G570= |
Synonymous |
24/53 |
- |
1 |
X-107840736-G-A |
c.1717G>A |
p.G573S |
Missense |
24/53 |
- |
4 |
X-107840737-G-A |
c.1718G>A |
p.G573D |
Missense |
24/53 |
- |
5 |
X-107840738-T-A |
c.1719T>A |
p.G573= |
Synonymous |
24/53 |
- |
1 |
X-107840738-T-C |
c.1719T>C |
p.G573= |
Synonymous |
24/53 |
- |
1 |
X-107840738-T-G |
c.1719T>G |
p.G573= |
Synonymous |
24/53 |
- |
1 |
X-107840739-T-C |
c.1720T>C |
p.L574= |
Synonymous |
24/53 |
- |
1 |
X-107840741-A-G |
c.1722A>G |
p.L574= |
Synonymous |
24/53 |
- |
1 |
X-107840741-A-C |
c.1722A>C |
p.L574F |
Missense |
24/53 |
- |
1 |
X-107840741-A-T |
c.1722A>T |
p.L574F |
Missense |
24/53 |
- |
1 |
X-107840743-C-A |
c.1724C>A |
p.P575H |
Missense |
24/53 |
- |
1 |
X-107840743-C-T |
c.1724C>T |
p.P575L |
Missense |
24/53 |
- |
1 |
X-107840745-G-A |
c.1726G>A |
p.G576S |
Missense |
24/53 |
- |
3 |
X-107840747-C-A |
c.1728C>A |
p.G576= |
Synonymous |
24/53 |
- |
1 |
X-107840749-C-T |
c.1730C>T |
p.T577I |
Missense |
24/53 |
- |
1 |
X-107840751-C-T |
c.1732C>T |
p.P578S |
Missense |
24/53 |
- |
3 |
X-107840752-C-T |
c.1733C>T |
p.P578L |
Missense |
24/53 |
- |
2 |
X-107840754-G-A |
c.1735G>A |
p.G579R |
Missense |
24/53 |
- |
4 |
X-107840754-G-C |
c.1735G>C |
p.G579R |
Missense |
24/53 |
- |
1 |
X-107840755-G-A |
c.1736G>A |
p.G579E |
Missense |
24/53 |
- |
4 |
X-107840755-G-T |
c.1736G>T |
p.G579V |
Missense |
24/53 |
- |
1 |
X-107840757-C-T |
c.1738C>T |
p.Q580* |
Nonsense |
24/53 |
- |
3 |
X-107840758-CAGGATGGATTGCCAGGGCTTCCTGGCCCGAAAGGAGAGCCTGTGAGTTGGTTTGATATT-C |
c.1739_1779+18del |
- |
SpliceDonorDeletion |
24/53 |
24/52 |
1 |
X-107840762-T-A |
c.1743T>A |
p.D581E |
Missense |
24/53 |
- |
1 |
X-107840762-T-G |
c.1743T>G |
p.D581E |
Missense |
24/53 |
- |
1 |
X-107840763-G-A |
c.1744G>A |
p.G582R |
Missense |
24/53 |
- |
3 |
X-107840763-GGA-AGC |
c.1744_1746delinsAGC |
p.G582S |
Missense |
24/53 |
- |
1 |
X-107840763-GGA-TGG |
c.1744_1746delinsTGG |
p.G582W |
Missense |
24/53 |
- |
1 |
X-107840769-C-T |
c.1750C>T |
p.P584S |
Missense |
24/53 |
- |
1 |
X-107840767-TGCCAGG-T |
c.1751_1756del |
p.P584_G585del |
InFrameDeletion |
24/53 |
- |
3 |
X-107840771-CAGG-C |
c.1752_1754del |
p.G585del |
InFrameDeletion |
24/53 |
- |
1 |
X-107840773-G-C |
c.1754G>C |
p.G585A |
Missense |
24/53 |
- |
2 |
X-107840775-C-A |
c.1756C>A |
p.L586I |
Missense |
24/53 |
- |
1 |
X-107840776-CTTCCTGGCCCGAAA-C |
c.1757_1770del |
p.L586Rfs*9 |
Frameshift |
24/53 |
- |
1 |
X-107840778-C-T |
c.1759C>T |
p.P587S |
Missense |
24/53 |
- |
4 |
X-107840777-TC-T |
c.1760del |
p.P587Lfs*31 |
Frameshift |
24/53 |
- |
1 |
X-107840781-G-A |
c.1762G>A |
p.G588S |
Missense |
24/53 |
- |
1 |
X-107840782-G-A |
c.1763G>A |
p.G588D |
Missense |
24/53 |
- |
1 |
X-107840784-C-A |
c.1765C>A |
p.P589T |
Missense |
24/53 |
- |
1 |
X-107840784-C-T |
c.1765C>T |
p.P589S |
Missense |
24/53 |
- |
4 |
X-107840785-C-A |
c.1766C>A |
p.P589Q |
Missense |
24/53 |
- |
1 |
X-107840786-G-A |
c.1767G>A |
p.P589= |
Synonymous |
24/53 |
- |
2 |
X-107840787-A-G |
c.1768A>G |
p.K590E |
Missense |
24/53 |
- |
2 |
X-107840788-A-C |
c.1769A>C |
p.K590T |
Missense |
24/53 |
- |
4 |
X-107840789-A-T |
c.1770A>T |
p.K590N |
Missense |
24/53 |
- |
1 |
X-107840790-G-A |
c.1771G>A |
p.G591R |
Missense |
24/53 |
- |
3 |
X-107840790-G-T |
c.1771G>T |
p.G591* |
Nonsense |
24/53 |
- |
2 |
X-107840791-G-A |
c.1772G>A |
p.G591E |
Missense |
24/53 |
- |
3 |
X-107840791-G-T |
c.1772G>T |
p.G591V |
Missense |
24/53 |
- |
1 |
X-107840792-A-C |
c.1773A>C |
p.G591= |
Synonymous |
24/53 |
- |
2 |
X-107840792-A-G |
c.1773A>G |
p.G591= |
Synonymous |
24/53 |
- |
3 |
X-107840792-A-T |
c.1773A>T |
p.G591= |
Synonymous |
24/53 |
- |
2 |
X-107840793-G-C |
c.1774G>C |
p.E592Q |
Missense |
24/53 |
- |
1 |
X-107840796-C-T |
c.1777C>T |
p.P593S |
Missense |
24/53 |
- |
1 |
X-107840797-C-T |
c.1778C>T |
p.P593L |
Missense |
24/53 |
- |
1 |
X-107840798-T-A |
c.1779T>A |
p.P593= |
Synonymous |
24/53 |
- |
1 |
X-107840798-T-C |
c.1779T>C |
p.P593= |
Synonymous |
24/53 |
- |
2 |
X-107840798-T-G |
c.1779T>G |
p.P593= |
Synonymous |
24/53 |
- |
1 |
X-107840799-G-A |
c.1779+1G>A |
- |
IntronicSNV |
- |
24/52 |
1 |
X-107840799-G-T |
c.1779+1G>T |
- |
IntronicSNV |
- |
24/52 |
1 |
X-107840801-G-C |
c.1779+3G>C |
- |
IntronicSNV |
- |
24/52 |
2 |
X-107841932-G-A |
c.1780G>A |
p.G594S |
Missense |
25/53 |
- |
3 |
X-107841932-G-C |
c.1780G>C |
p.G594R |
Missense |
25/53 |
- |
2 |
X-107841932-GG-AA |
c.1780_1781delinsAA |
p.G594N |
Missense |
25/53 |
- |
1 |
X-107841933-G-A |
c.1781G>A |
p.G594D |
Missense |
25/53 |
- |
5 |
X-107841933-G-T |
c.1781G>T |
p.G594V |
Missense |
25/53 |
- |
1 |
X-107841935-G-A |
c.1783G>A |
p.G595R |
Missense |
25/53 |
- |
2 |
X-107841936-G-A |
c.1784G>A |
p.G595E |
Missense |
25/53 |
- |
3 |
X-107841937-A-C |
c.1785A>C |
p.G595= |
Synonymous |
25/53 |
- |
1 |
X-107841937-A-G |
c.1785A>G |
p.G595= |
Synonymous |
25/53 |
- |
1 |
X-107841937-A-T |
c.1785A>T |
p.G595= |
Synonymous |
25/53 |
- |
1 |
X-107841941-A-G |
c.1789A>G |
p.T597A |
Missense |
25/53 |
- |
1 |
X-107841942-C-A |
c.1790C>A |
p.T597N |
Missense |
25/53 |
- |
1 |
X-107841949-G-T |
c.1797G>T |
p.K599N |
Missense |
25/53 |
- |
1 |
X-107841951-G-A |
c.1799G>A |
p.G600D |
Missense |
25/53 |
- |
2 |
X-107841951-G-T |
c.1799G>T |
p.G600V |
Missense |
25/53 |
- |
2 |
X-107841953-GA-TC |
c.1801_1802inv |
p.E601S |
Missense |
25/53 |
- |
1 |
X-107841957-G-A |
c.1805G>A |
p.R602K |
Missense |
25/53 |
- |
5 |
X-107841957-G-T |
c.1805G>T |
p.R602I |
Missense |
25/53 |
- |
1 |
X-107841959-G-A |
c.1807G>A |
p.G603S |
Missense |
25/53 |
- |
3 |
X-107841959-G-C |
c.1807G>C |
p.G603R |
Missense |
25/53 |
- |
1 |
X-107841959-GG-AC |
c.1807_1808delinsAC |
p.G603T |
Missense |
25/53 |
- |
1 |
X-107841959-G-T |
c.1807G>T |
p.G603C |
Missense |
25/53 |
- |
1 |
X-107841960-G-T |
c.1808G>T |
p.G603V |
Missense |
25/53 |
- |
3 |
X-107841962-C-A |
c.1810C>A |
p.P604T |
Missense |
25/53 |
- |
2 |
X-107841962-C-T |
c.1810C>T |
p.P604S |
Missense |
25/53 |
- |
1 |
X-107841963-C-T |
c.1811C>T |
p.P604L |
Missense |
25/53 |
- |
2 |
X-107841965-C-A |
c.1813C>A |
p.P605T |
Missense |
25/53 |
- |
1 |
X-107841966-C-A |
c.1814C>A |
p.P605H |
Missense |
25/53 |
- |
3 |
X-107841968-G-A |
c.1816G>A |
p.G606R |
Missense |
25/53 |
- |
1 |
X-107841968-G-T |
c.1816G>T |
p.G606W |
Missense |
25/53 |
- |
1 |
X-107841970-G-A |
c.1818G>A |
p.G606= |
Synonymous |
25/53 |
- |
3 |
X-107841975-C-A |
c.1823C>A |
p.P608Q |
Missense |
25/53 |
- |
1 |
X-107841977-G-A |
c.1825G>A |
p.G609S |
Missense |
25/53 |
- |
2 |
X-107841977-G-C |
c.1825G>C |
p.G609R |
Missense |
25/53 |
- |
4 |
X-107841978-G-A |
c.1826G>A |
p.G609D |
Missense |
25/53 |
- |
4 |
X-107841978-G-C |
c.1826G>C |
p.G609A |
Missense |
25/53 |
- |
1 |
X-107841978-G-T |
c.1826G>T |
p.G609V |
Missense |
25/53 |
- |
4 |
X-107841982-A-T |
c.1830A>T |
p.L610F |
Missense |
25/53 |
- |
1 |
X-107841984-C-T |
c.1832C>T |
p.P611L |
Missense |
25/53 |
- |
1 |
X-107841986-G-A |
c.1834G>A |
p.G612S |
Missense |
25/53 |
- |
2 |
X-107841986-G-C |
c.1834G>C |
p.G612R |
Missense |
25/53 |
- |
1 |
X-107841986-G-T |
c.1834G>T |
p.G612C |
Missense |
25/53 |
- |
1 |
X-107841987-G-A |
c.1835G>A |
p.G612D |
Missense |
25/53 |
- |
3 |
X-107841987-G-T |
c.1835G>T |
p.G612V |
Missense |
25/53 |
- |
1 |
X-107841995-G-A |
c.1843G>A |
p.G615R |
Missense |
25/53 |
- |
4 |
X-107841995-G-C |
c.1843G>C |
p.G615R |
Missense |
25/53 |
- |
3 |
X-107841996-G-A |
c.1844G>A |
p.G615E |
Missense |
25/53 |
- |
2 |
X-107841996-G-C |
c.1844G>C |
p.G615A |
Missense |
25/53 |
- |
1 |
X-107841994-AG-A |
c.1845del |
p.N616Ifs*2 |
Frameshift |
25/53 |
- |
1 |
X-107841997-G-A |
c.1845G>A |
p.G615= |
Synonymous |
25/53 |
- |
7 |
X-107841997-G-C |
c.1845G>C |
p.G615= |
Synonymous |
25/53 |
- |
2 |
X-107841997-G-T |
c.1845G>T |
p.G615= |
Synonymous |
25/53 |
- |
2 |
X-107841993-CAGGGAATAT-C |
c.1846_1854del |
p.N616_G618del |
InFrameDeletion |
25/53 |
- |
1 |
X-107841998-A-T |
c.1846A>T |
p.N616Y |
Missense |
25/53 |
- |
1 |
X-107842000-T-A |
c.1848T>A |
p.N616K |
Missense |
25/53 |
- |
1 |
X-107842000-T-G |
c.1848T>G |
p.N616K |
Missense |
25/53 |
- |
1 |
X-107842004-AGGG-A |
c.1852_1854del |
p.G618del |
InFrameDeletion |
25/53 |
- |
1 |
X-107842004-G-A |
c.1852G>A |
p.G618R |
Missense |
25/53 |
- |
1 |
X-107842004-G-C |
c.1852G>C |
p.G618R |
Missense |
25/53 |
- |
1 |
X-107842005-G-T |
c.1853G>T |
p.G618V |
Missense |
25/53 |
- |
1 |
X-107842007-C-T |
c.1855C>T |
p.P619S |
Missense |
25/53 |
- |
4 |
X-107842008-C-T |
c.1856C>T |
p.P619L |
Missense |
25/53 |
- |
3 |
X-107842010-A-G |
c.1858A>G |
p.M620V |
Missense |
25/53 |
- |
1 |
X-107842013-G-A |
c.1861G>A |
p.G621S |
Missense |
25/53 |
- |
1 |
X-107842013-G-T |
c.1861G>T |
p.G621C |
Missense |
25/53 |
- |
5 |
X-107842014-G-C |
c.1862G>C |
p.G621A |
Missense |
25/53 |
- |
1 |
X-107842014-G-T |
c.1862G>T |
p.G621V |
Missense |
25/53 |
- |
2 |
X-107842016-C-T |
c.1864C>T |
p.P622S |
Missense |
25/53 |
- |
2 |
X-107842023-G-A |
c.1871G>A |
p.G624D |
Missense |
25/53 |
- |
44 |
X-107842023-G-T |
c.1871G>T |
p.G624V |
Missense |
25/53 |
- |
2 |
X-107842023-GT-AG |
c.1871_1872delinsAG |
p.G624E |
Missense |
25/53 |
- |
1 |
X-107842027-C-T |
c.1875C>T |
p.F625= |
Synonymous |
25/53 |
- |
3 |
X-107842028-G-A |
c.1876G>A |
p.G626S |
Missense |
25/53 |
- |
2 |
X-107842029-G-C |
c.1877G>C |
p.G626A |
Missense |
25/53 |
- |
2 |
X-107842031-C-T |
c.1879C>T |
p.P627S |
Missense |
25/53 |
- |
1 |
X-107842032-C-T |
c.1880C>T |
p.P627L |
Missense |
25/53 |
- |
4 |
X-107842034-C-A |
c.1882C>A |
p.P628T |
Missense |
25/53 |
- |
2 |
X-107842035-C-A |
c.1883C>A |
p.P628Q |
Missense |
25/53 |
- |
1 |
X-107842035-C-T |
c.1883C>T |
p.P628L |
Missense |
25/53 |
- |
15 |
X-107842037-G-T |
c.1885G>T |
p.G629C |
Missense |
25/53 |
- |
1 |
X-107842038-G-A |
c.1886G>A |
p.G629D |
Missense |
25/53 |
- |
4 |
X-107842041-C-A |
c.1889C>A |
p.P630Q |
Missense |
25/53 |
- |
1 |
X-107842041-C-T |
c.1889C>T |
p.P630L |
Missense |
25/53 |
- |
1 |
X-107842046-G-A |
c.1894G>A |
p.G632S |
Missense |
25/53 |
- |
1 |
X-107842046-G-C |
c.1894G>C |
p.G632R |
Missense |
25/53 |
- |
4 |
X-107842047-G-A |
c.1895G>A |
p.G632D |
Missense |
25/53 |
- |
4 |
X-107842047-G-GC |
c.1895_1896insC |
p.E633* |
Nonsense |
25/53 |
- |
1 |
X-107842049-G-A |
c.1897G>A |
p.E633K |
Missense |
25/53 |
- |
6 |
X-107842051-A-C |
c.1899A>C |
p.E633D |
Missense |
25/53 |
- |
1 |
X-107842051-A-T |
c.1899A>T |
p.E633D |
Missense |
25/53 |
- |
1 |
X-107842054-A-G |
c.1902A>G |
p.K634= |
Synonymous |
25/53 |
- |
1 |
X-107842055-G-A |
c.1903G>A |
p.G635S |
Missense |
25/53 |
- |
1 |
X-107842055-G-T |
c.1903G>T |
p.G635C |
Missense |
25/53 |
- |
1 |
X-107842056-G-A |
c.1904G>A |
p.G635D |
Missense |
25/53 |
- |
5 |
X-107842056-GC-AG |
c.1904_1905delinsAG |
p.G635E |
Missense |
25/53 |
- |
2 |
X-107842056-G-T |
c.1904G>T |
p.G635V |
Missense |
25/53 |
- |
2 |
X-107842058-A-G |
c.1906A>G |
p.I636V |
Missense |
25/53 |
- |
1 |
X-107842061-C-A |
c.1909C>A |
p.Q637K |
Missense |
25/53 |
- |
1 |
X-107842061-C-T |
c.1909C>T |
p.Q637* |
Nonsense |
25/53 |
- |
1 |
X-107842062-A-G |
c.1910A>G |
p.Q637R |
Missense |
25/53 |
- |
1 |
X-107842064-G-A |
c.1912G>A |
p.G638S |
Missense |
25/53 |
- |
5 |
X-107842065-G-A |
c.1913G>A |
p.G638D |
Missense |
25/53 |
- |
3 |
X-107842065-G-C |
c.1913G>C |
p.G638A |
Missense |
25/53 |
- |
3 |
X-107842065-G-T |
c.1913G>T |
p.G638V |
Missense |
25/53 |
- |
4 |
X-107842067-G-A |
c.1915G>A |
p.V639M |
Missense |
25/53 |
- |
1 |
X-107842070-G-A |
c.1918G>A |
p.A640T |
Missense |
25/53 |
- |
1 |
X-107842074-G-A |
c.1922G>A |
p.G641E |
Missense |
25/53 |
- |
2 |
X-107842074-G-T |
c.1922G>T |
p.G641V |
Missense |
25/53 |
- |
1 |
X-107842083-G-A |
c.1931G>A |
p.G644D |
Missense |
25/53 |
- |
6 |
X-107842083-G-C |
c.1931G>C |
p.G644A |
Missense |
25/53 |
- |
1 |
X-107842083-G-T |
c.1931G>T |
p.G644V |
Missense |
25/53 |
- |
2 |
X-107842085-C-T |
c.1933C>T |
p.Q645* |
Nonsense |
25/53 |
- |
2 |
X-107842087-G-GC |
c.1937dup |
p.G647Rfs*6 |
Frameshift |
25/53 |
- |
1 |
X-107842091-G-A |
c.1939G>A |
p.G647R |
Missense |
25/53 |
- |
6 |
X-107842091-G-C |
c.1939G>C |
p.G647R |
Missense |
25/53 |
- |
3 |
X-107842092-G-T |
c.1940G>T |
p.G647V |
Missense |
25/53 |
- |
1 |
X-107842094-A-G |
c.1942A>G |
p.I648V |
Missense |
25/53 |
- |
1 |
X-107842097-C-G |
c.1945C>G |
p.P649A |
Missense |
25/53 |
- |
1 |
X-107842097-C-T |
c.1945C>T |
p.P649S |
Missense |
25/53 |
- |
1 |
X-107842100-G-A |
c.1948G>A |
p.G650S |
Missense |
25/53 |
- |
3 |
X-107842100-G-C |
c.1948G>C |
p.G650R |
Missense |
25/53 |
- |
1 |
X-107842100-G-T |
c.1948G>T |
p.G650C |
Missense |
25/53 |
- |
3 |
X-107842101-G-A |
c.1948+1G>A |
- |
IntronicSNV |
- |
25/52 |
2 |
X-107842101-G-T |
c.1948+1G>T |
- |
IntronicSNV |
- |
25/52 |
1 |
X-107842994-C-G |
c.1948+894C>G |
- |
IntronicSNV |
- |
25/52 |
2 |
X-107844435-T-C |
c.1949-188T>C |
- |
IntronicSNV |
- |
25/52 |
1 |
X-107844623-G-A |
c.1949G>A |
p.G650D |
Missense |
26/53 |
- |
3 |
X-107844631-G-A |
c.1957G>A |
p.G653R |
Missense |
26/53 |
- |
6 |
X-107844631-G-C |
c.1957G>C |
p.G653R |
Missense |
26/53 |
- |
1 |
X-107844631-G-T |
c.1957G>T |
p.G653W |
Missense |
26/53 |
- |
1 |
X-107844632-G-T |
c.1958G>T |
p.G653V |
Missense |
26/53 |
- |
3 |
X-107844633-G-A |
c.1959G>A |
p.G653= |
Synonymous |
26/53 |
- |
1 |
X-107844633-G-T |
c.1959G>T |
p.G653= |
Synonymous |
26/53 |
- |
1 |
X-107844630-AG-A |
c.1960del |
p.D654Ifs*6 |
Frameshift |
26/53 |
- |
1 |
X-107844634-G-A |
c.1960G>A |
p.D654N |
Missense |
26/53 |
- |
4 |
X-107844634-G-C |
c.1960G>C |
p.D654H |
Missense |
26/53 |
- |
1 |
X-107844634-G-T |
c.1960G>T |
p.D654Y |
Missense |
26/53 |
- |
3 |
X-107844636-T-A |
c.1962T>A |
p.D654E |
Missense |
26/53 |
- |
1 |
X-107844636-T-G |
c.1962T>G |
p.D654E |
Missense |
26/53 |
- |
1 |
X-107844637-C-T |
c.1963C>T |
p.P655S |
Missense |
26/53 |
- |
2 |
X-107844638-C-A |
c.1964C>A |
p.P655Q |
Missense |
26/53 |
- |
1 |
X-107844640-G-A |
c.1966G>A |
p.G656S |
Missense |
26/53 |
- |
2 |
X-107844640-G-C |
c.1966G>C |
p.G656R |
Missense |
26/53 |
- |
1 |
X-107844643-C-A |
c.1969C>A |
p.Q657K |
Missense |
26/53 |
- |
1 |
X-107844644-A-G |
c.1970A>G |
p.Q657R |
Missense |
26/53 |
- |
2 |
X-107844645-G-T |
c.1971G>T |
p.Q657H |
Missense |
26/53 |
- |
1 |
X-107844646-A-C |
c.1972A>C |
p.T658P |
Missense |
26/53 |
- |
2 |
X-107844646-A-G |
c.1972A>G |
p.T658A |
Missense |
26/53 |
- |
1 |
X-107844646-A-T |
c.1972A>T |
p.T658S |
Missense |
26/53 |
- |
1 |
X-107844649-A-G |
c.1975A>G |
p.I659V |
Missense |
26/53 |
- |
2 |
X-107844650-T-C |
c.1976T>C |
p.I659T |
Missense |
26/53 |
- |
1 |
X-107844653-C-T |
c.1979C>T |
p.T660I |
Missense |
26/53 |
- |
1 |
X-107844659-C-A |
c.1985C>A |
p.P662Q |
Missense |
26/53 |
- |
1 |
X-107844659-C-T |
c.1985C>T |
p.P662L |
Missense |
26/53 |
- |
1 |
X-107844663-GAAGCCTGGCTTGCCTGGT-G |
c.1992_2009del |
p.K664_G669del |
InFrameDeletion |
26/53 |
- |
1 |
X-107844666-G-A |
c.1992G>A |
p.K664= |
Synonymous |
26/53 |
- |
5 |
X-107844666-G-C |
c.1992G>C |
p.K664N |
Missense |
26/53 |
- |
3 |
X-107844666-G-T |
c.1992G>T |
p.K664N |
Missense |
26/53 |
- |
10 |
X-107844667-C-T |
c.1993C>T |
p.P665S |
Missense |
26/53 |
- |
1 |
X-107844671-G-A |
c.1997G>A |
p.G666D |
Missense |
26/53 |
- |
2 |
X-107844671-G-C |
c.1997G>C |
p.G666A |
Missense |
26/53 |
- |
1 |
X-107844671-GC-AG |
c.1997_1998delinsAG |
p.G666E |
Missense |
26/53 |
- |
2 |
X-107844671-G-T |
c.1997G>T |
p.G666V |
Missense |
26/53 |
- |
1 |
X-107844675-G-C |
c.2001G>C |
p.L667F |
Missense |
26/53 |
- |
1 |
X-107844675-G-T |
c.2001G>T |
p.L667F |
Missense |
26/53 |
- |
1 |
X-107844677-C-T |
c.2003C>T |
p.P668L |
Missense |
26/53 |
- |
1 |
X-107844679-G-A |
c.2005G>A |
p.G669S |
Missense |
26/53 |
- |
2 |
X-107844679-G-C |
c.2005G>C |
p.G669R |
Missense |
26/53 |
- |
3 |
X-107844679-G-T |
c.2005G>T |
p.G669C |
Missense |
26/53 |
- |
3 |
X-107844680-G-A |
c.2006G>A |
p.G669D |
Missense |
26/53 |
- |
1 |
X-107844680-G-C |
c.2006G>C |
p.G669A |
Missense |
26/53 |
- |
7 |
X-107844688-G-A |
c.2014G>A |
p.G672S |
Missense |
26/53 |
- |
1 |
X-107844688-G-C |
c.2014G>C |
p.G672R |
Missense |
26/53 |
- |
2 |
X-107844689-G-A |
c.2015G>A |
p.G672D |
Missense |
26/53 |
- |
2 |
X-107844690-C-A |
c.2016C>A |
p.G672= |
Synonymous |
26/53 |
- |
1 |
X-107844690-C-G |
c.2016C>G |
p.G672= |
Synonymous |
26/53 |
- |
1 |
X-107844690-C-T |
c.2016C>T |
p.G672= |
Synonymous |
26/53 |
- |
2 |
X-107844691-A-G |
c.2017A>G |
p.R673G |
Missense |
26/53 |
- |
2 |
X-107844692-AG-A |
c.2018del |
p.R673Kfs*5 |
Frameshift |
26/53 |
- |
1 |
X-107844691-A-C |
c.2017A>C |
p.R673= |
Synonymous |
26/53 |
- |
1 |
X-107844693-A-G |
c.2019A>G |
p.R673= |
Synonymous |
26/53 |
- |
1 |
X-107844693-A-T |
c.2019A>T |
p.R673S |
Missense |
26/53 |
- |
1 |
X-107844694-G-A |
c.2020G>A |
p.D674N |
Missense |
26/53 |
- |
1 |
X-107844697-G-A |
c.2023G>A |
p.G675S |
Missense |
26/53 |
- |
5 |
X-107844693-AGATGGT-A |
c.2024_2029del |
p.G675_D676del |
InFrameDeletion |
26/53 |
- |
1 |
X-107844698-G-A |
c.2024G>A |
p.G675D |
Missense |
26/53 |
- |
2 |
X-107844699-T-A |
c.2025T>A |
p.G675= |
Synonymous |
26/53 |
- |
1 |
X-107844699-T-C |
c.2025T>C |
p.G675= |
Synonymous |
26/53 |
- |
1 |
X-107844699-T-G |
c.2025T>G |
p.G675= |
Synonymous |
26/53 |
- |
1 |
X-107844701-A-C |
c.2027A>C |
p.D676A |
Missense |
26/53 |
- |
1 |
X-107844703-G-A |
c.2029G>A |
p.V677I |
Missense |
26/53 |
- |
2 |
X-107844706-G-T |
c.2032G>T |
p.G678C |
Missense |
26/53 |
- |
1 |
X-107844709-C-G |
c.2035C>G |
p.L679V |
Missense |
26/53 |
- |
1 |
X-107844709-C-T |
c.2035C>T |
p.L679F |
Missense |
26/53 |
- |
3 |
X-107844712-C-A |
c.2038C>A |
p.P680T |
Missense |
26/53 |
- |
2 |
X-107844712-C-T |
c.2038C>T |
p.P680S |
Missense |
26/53 |
- |
1 |
X-107844713-C-T |
c.2039C>T |
p.P680L |
Missense |
26/53 |
- |
4 |
X-107844715-G-A |
c.2041G>A |
p.G681S |
Missense |
26/53 |
- |
3 |
X-107844716-G-T |
c.2041+1G>T |
- |
IntronicSNV |
- |
26/52 |
1 |
X-107844759-T-G |
c.2041+44T>G |
- |
IntronicSNV |
- |
26/52 |
1 |
X-107844758-CT-C |
c.2041+61del |
- |
IntronicDeletion |
- |
26/52 |
3 |
X-107844780-A-G |
c.2041+65A>G |
- |
IntronicSNV |
- |
26/52 |
5 |
X-107845111-A-G |
c.2042-4A>G |
- |
IntronicSNV |
- |
26/52 |
1 |
X-107845115-G-A |
c.2042G>A |
p.G681D |
Missense |
27/53 |
- |
4 |
X-107845118-A-G |
c.2045A>G |
p.D682G |
Missense |
27/53 |
- |
1 |
X-107845118-AC-A |
c.2048del |
p.P683Lfs*53 |
Frameshift |
27/53 |
- |
1 |
X-107845121-CCTG-C |
c.2048_2050del |
p.P683_G684delinsR |
MultiAAMissense |
27/53 |
- |
2 |
X-107845122-CTGG-C |
c.2049_2051del |
p.G684del |
InFrameDeletion |
27/53 |
- |
1 |
X-107845123-G-T |
c.2050G>T |
p.G684* |
Nonsense |
27/53 |
- |
1 |
X-107845124-G-T |
c.2051G>T |
p.G684V |
Missense |
27/53 |
- |
4 |
X-107845125-A-G |
c.2052A>G |
p.G684= |
Synonymous |
27/53 |
- |
1 |
X-107845128-T-C |
c.2055T>C |
p.L685= |
Synonymous |
27/53 |
- |
8 |
X-107845129-C-T |
c.2056C>T |
p.P686S |
Missense |
27/53 |
- |
1 |
X-107845129-TCCAGGGCA-T |
c.2056_2063del |
p.P686Tfs*9 |
Frameshift |
27/53 |
- |
1 |
X-107845128-TC-T |
c.2057del |
p.P686Qfs*50 |
Frameshift |
27/53 |
- |
3 |
X-107845133-G-A |
c.2060G>A |
p.G687E |
Missense |
27/53 |
- |
5 |
X-107845134-G-A |
c.2061G>A |
p.G687= |
Synonymous |
27/53 |
- |
3 |
X-107845134-G-C |
c.2061G>C |
p.G687= |
Synonymous |
27/53 |
- |
3 |
X-107845134-G-T |
c.2061G>T |
p.G687= |
Synonymous |
27/53 |
- |
3 |
X-107845135-C-T |
c.2062C>T |
p.Q688* |
Nonsense |
27/53 |
- |
2 |
X-107845137-A-C |
c.2064A>C |
p.Q688H |
Missense |
27/53 |
- |
1 |
X-107845137-A-T |
c.2064A>T |
p.Q688H |
Missense |
27/53 |
- |
1 |
X-107845144-T-A |
c.2071T>A |
p.L691M |
Missense |
27/53 |
- |
1 |
X-107845146-G-C |
c.2073G>C |
p.L691F |
Missense |
27/53 |
- |
2 |
X-107845146-G-T |
c.2073G>T |
p.L691F |
Missense |
27/53 |
- |
3 |
X-107845147-C-G |
c.2074C>G |
p.P692A |
Missense |
27/53 |
- |
1 |
X-107845147-C-T |
c.2074C>T |
p.P692S |
Missense |
27/53 |
- |
1 |
X-107845148-C-T |
c.2075C>T |
p.P692L |
Missense |
27/53 |
- |
1 |
X-107845150-G-A |
c.2077G>A |
p.G693R |
Missense |
27/53 |
- |
3 |
X-107845151-G-A |
c.2078G>A |
p.G693E |
Missense |
27/53 |
- |
5 |
X-107845151-G-T |
c.2078G>T |
p.G693V |
Missense |
27/53 |
- |
1 |
X-107845152-G-A |
c.2079G>A |
p.G693= |
Synonymous |
27/53 |
- |
2 |
X-107845153-A-G |
c.2080A>G |
p.I694V |
Missense |
27/53 |
- |
1 |
X-107845153-GA-G |
c.2080del |
p.I694Yfs*42 |
Frameshift |
27/53 |
- |
1 |
X-107845155-A-G |
c.2082A>G |
p.I694M |
Missense |
27/53 |
- |
1 |
X-107845157-C-T |
c.2084C>T |
p.P695L |
Missense |
27/53 |
- |
1 |
X-107845159-G-C |
c.2086G>C |
p.G696R |
Missense |
27/53 |
- |
1 |
X-107845160-G-A |
c.2087G>A |
p.G696D |
Missense |
27/53 |
- |
2 |
X-107845160-G-C |
c.2087G>C |
p.G696A |
Missense |
27/53 |
- |
1 |
X-107845160-G-GTTCTCCT |
c.2088_2089insTCTCCTT |
p.K698Pfs*2 |
Frameshift |
27/53 |
- |
1 |
X-107845162-A-T |
c.2089A>T |
p.S697C |
Missense |
27/53 |
- |
2 |
X-107845164-CAAAGGAG-C |
c.2094_2100del |
p.K698Nfs*36 |
Frameshift |
27/53 |
- |
1 |
X-107845168-G-A |
c.2095G>A |
p.G699R |
Missense |
27/53 |
- |
3 |
X-107845168-G-C |
c.2095G>C |
p.G699R |
Missense |
27/53 |
- |
1 |
X-107845170-A-C |
c.2097A>C |
p.G699= |
Synonymous |
27/53 |
- |
1 |
X-107845170-A-G |
c.2097A>G |
p.G699= |
Synonymous |
27/53 |
- |
1 |
X-107845170-A-T |
c.2097A>T |
p.G699= |
Synonymous |
27/53 |
- |
1 |
X-107845171-GA-AG |
c.2098_2099delinsAG |
p.E700R |
Missense |
27/53 |
- |
1 |
X-107845171-G-T |
c.2098G>T |
p.E700* |
Nonsense |
27/53 |
- |
3 |
X-107845172-A-T |
c.2099A>T |
p.E700V |
Missense |
27/53 |
- |
2 |
X-107845175-C-T |
c.2102C>T |
p.P701L |
Missense |
27/53 |
- |
1 |
X-107845177-G-A |
c.2104G>A |
p.G702S |
Missense |
27/53 |
- |
1 |
X-107845180-A-G |
c.2107A>G |
p.I703V |
Missense |
27/53 |
- |
3 |
X-107845181-T-C |
c.2108T>C |
p.I703T |
Missense |
27/53 |
- |
1 |
X-107845182-C-T |
c.2109C>T |
p.I703= |
Synonymous |
27/53 |
- |
1 |
X-107845183-C-T |
c.2110C>T |
p.P704S |
Missense |
27/53 |
- |
4 |
X-107845187-G-A |
c.2114G>A |
p.G705E |
Missense |
27/53 |
- |
1 |
X-107845188-A-G |
c.2115A>G |
p.G705= |
Synonymous |
27/53 |
- |
2 |
X-107845189-A-G |
c.2116A>G |
p.I706V |
Missense |
27/53 |
- |
2 |
X-107845192-G-A |
c.2119G>A |
p.G707R |
Missense |
27/53 |
- |
1 |
X-107845193-G-A |
c.2120G>A |
p.G707E |
Missense |
27/53 |
- |
2 |
X-107845193-G-C |
c.2120G>C |
p.G707A |
Missense |
27/53 |
- |
1 |
X-107845199-C-T |
c.2126C>T |
p.P709L |
Missense |
27/53 |
- |
1 |
X-107845200-T-A |
c.2127T>A |
p.P709= |
Synonymous |
27/53 |
- |
1 |
X-107845200-T-C |
c.2127T>C |
p.P709= |
Synonymous |
27/53 |
- |
1 |
X-107845200-T-G |
c.2127T>G |
p.P709= |
Synonymous |
27/53 |
- |
1 |
X-107845202-G-A |
c.2129G>A |
p.G710E |
Missense |
27/53 |
- |
4 |
X-107845203-GACCACC-G |
c.2130_2135del |
p.P711_P712del |
InFrameDeletion |
27/53 |
- |
1 |
X-107845202-GACC-G |
c.2133_2135del |
p.P712del |
InFrameDeletion |
27/53 |
- |
1 |
X-107845207-C-G |
c.2134C>G |
p.P712A |
Missense |
27/53 |
- |
1 |
X-107845210-G-A |
c.2137G>A |
p.G713S |
Missense |
27/53 |
- |
1 |
X-107845213-C-T |
c.2140C>T |
p.P714S |
Missense |
27/53 |
- |
2 |
X-107845218-A-G |
c.2145A>G |
p.K715= |
Synonymous |
27/53 |
- |
1 |
X-107845219-G-C |
c.2146G>C |
p.G716R |
Missense |
27/53 |
- |
2 |
X-107845221-T-A |
c.2146+2T>A |
- |
IntronicSNV |
- |
27/52 |
1 |
X-107845222-A-C |
c.2146+3A>C |
- |
IntronicSNV |
- |
27/52 |
1 |
X-107846192-AG-A |
c.2147del |
p.G716Afs*20 |
Frameshift |
28/53 |
- |
1 |
X-107846199-C-T |
c.2152C>T |
p.P718S |
Missense |
28/53 |
- |
6 |
X-107846202-G-A |
c.2155G>A |
p.G719R |
Missense |
28/53 |
- |
2 |
X-107846202-G-C |
c.2155G>C |
p.G719R |
Missense |
28/53 |
- |
3 |
X-107846202-GG-AA |
c.2155_2156delinsAA |
p.G719K |
Missense |
28/53 |
- |
1 |
X-107846203-G-A |
c.2156G>A |
p.G719E |
Missense |
28/53 |
- |
2 |
X-107846203-G-T |
c.2156G>T |
p.G719V |
Missense |
28/53 |
- |
2 |
X-107846204-A-G |
c.2157A>G |
p.G719= |
Synonymous |
28/53 |
- |
1 |
X-107846208-C-T |
c.2161C>T |
p.P721S |
Missense |
28/53 |
- |
2 |
X-107846211-G-A |
c.2164G>A |
p.G722R |
Missense |
28/53 |
- |
1 |
X-107846211-G-C |
c.2164G>C |
p.G722R |
Missense |
28/53 |
- |
3 |
X-107846211-GGA-AGC |
c.2164_2166delinsAGC |
p.G722S |
Missense |
28/53 |
- |
1 |
X-107846212-G-A |
c.2165G>A |
p.G722E |
Missense |
28/53 |
- |
5 |
X-107846215-C-G |
c.2168C>G |
p.P723R |
Missense |
28/53 |
- |
1 |
X-107846217-C-T |
c.2170C>T |
p.P724S |
Missense |
28/53 |
- |
1 |
X-107846218-C-A |
c.2171C>A |
p.P724Q |
Missense |
28/53 |
- |
1 |
X-107846219-A-T |
c.2172A>T |
p.P724= |
Synonymous |
28/53 |
- |
1 |
X-107846220-G-T |
c.2173G>T |
p.G725* |
Nonsense |
28/53 |
- |
3 |
X-107846223-G-T |
c.2176G>T |
p.A726S |
Missense |
28/53 |
- |
1 |
X-107846227-C-G |
c.2180C>G |
p.P727R |
Missense |
28/53 |
- |
1 |
X-107846227-C-T |
c.2180C>T |
p.P727L |
Missense |
28/53 |
- |
1 |
X-107846229-G-A |
c.2182G>A |
p.G728R |
Missense |
28/53 |
- |
1 |
X-107846230-G-A |
c.2183G>A |
p.G728E |
Missense |
28/53 |
- |
2 |
X-107846228-TG-T |
c.2184del |
p.T729Hfs*7 |
Frameshift |
28/53 |
- |
1 |
X-107846231-G-A |
c.2184G>A |
p.G728= |
Synonymous |
28/53 |
- |
1 |
X-107846231-G-C |
c.2184G>C |
p.G728= |
Synonymous |
28/53 |
- |
1 |
X-107846231-G-T |
c.2184G>T |
p.G728= |
Synonymous |
28/53 |
- |
2 |
X-107846235-C-A |
c.2188C>A |
p.P730T |
Missense |
28/53 |
- |
1 |
X-107846239-G-A |
c.2192G>A |
p.G731E |
Missense |
28/53 |
- |
1 |
X-107846242-G-A |
c.2195G>A |
p.R732K |
Missense |
28/53 |
- |
1 |
X-107846243-A-T |
c.2196A>T |
p.R732S |
Missense |
28/53 |
- |
1 |
X-107846245-T-C |
c.2198T>C |
p.I733T |
Missense |
28/53 |
- |
1 |
X-107846247-G-A |
c.2200G>A |
p.G734S |
Missense |
28/53 |
- |
2 |
X-107846248-G-A |
c.2201G>A |
p.G734D |
Missense |
28/53 |
- |
1 |
X-107846251-T-A |
c.2204T>A |
p.L735Q |
Missense |
28/53 |
- |
1 |
X-107846253-G-C |
c.2206G>C |
p.E736Q |
Missense |
28/53 |
- |
1 |
X-107846252-AGAAGGCCCTCCTGGGCCACCC-A |
c.2207_2227del |
p.E736_P742del |
InFrameDeletion |
28/53 |
- |
1 |
X-107846257-G-A |
c.2210G>A |
p.G737D |
Missense |
28/53 |
- |
2 |
X-107846259-C-A |
c.2212C>A |
p.P738T |
Missense |
28/53 |
- |
1 |
X-107846259-C-G |
c.2212C>G |
p.P738A |
Missense |
28/53 |
- |
1 |
X-107846259-C-T |
c.2212C>T |
p.P738S |
Missense |
28/53 |
- |
1 |
X-107846260-C-A |
c.2213C>A |
p.P738H |
Missense |
28/53 |
- |
1 |
X-107846262-C-A |
c.2215C>A |
p.P739T |
Missense |
28/53 |
- |
1 |
X-107846262-C-G |
c.2215C>G |
p.P739A |
Missense |
28/53 |
- |
13 |
X-107846262-C-T |
c.2215C>T |
p.P739S |
Missense |
28/53 |
- |
7 |
X-107846263-C-A |
c.2216C>A |
p.P739H |
Missense |
28/53 |
- |
3 |
X-107846265-G-A |
c.2218G>A |
p.G740R |
Missense |
28/53 |
- |
2 |
X-107846265-G-C |
c.2218G>C |
p.G740R |
Missense |
28/53 |
- |
2 |
X-107846265-G-T |
c.2218G>T |
p.G740W |
Missense |
28/53 |
- |
1 |
X-107846266-G-A |
c.2219G>A |
p.G740E |
Missense |
28/53 |
- |
5 |
X-107846269-C-G |
c.2222C>G |
p.P741R |
Missense |
28/53 |
- |
1 |
X-107846269-C-T |
c.2222C>T |
p.P741L |
Missense |
28/53 |
- |
1 |
X-107846271-C-A |
c.2224C>A |
p.P742T |
Missense |
28/53 |
- |
2 |
X-107846272-C-T |
c.2225C>T |
p.P742L |
Missense |
28/53 |
- |
1 |
X-107846274-G-A |
c.2227G>A |
p.G743S |
Missense |
28/53 |
- |
3 |
X-107846275-G-A |
c.2228G>A |
p.G743D |
Missense |
28/53 |
- |
4 |
X-107846275-G-T |
c.2228G>T |
p.G743V |
Missense |
28/53 |
- |
1 |
X-107846276-C-T |
c.2229C>T |
p.G743= |
Synonymous |
28/53 |
- |
4 |
X-107846277-T-A |
c.2230T>A |
p.F744I |
Missense |
28/53 |
- |
1 |
X-107846278-T-C |
c.2231T>C |
p.F744S |
Missense |
28/53 |
- |
2 |
X-107846280-C-G |
c.2233C>G |
p.P745A |
Missense |
28/53 |
- |
1 |
X-107846280-C-T |
c.2233C>T |
p.P745S |
Missense |
28/53 |
- |
4 |
X-107846284-G-A |
c.2237G>A |
p.G746E |
Missense |
28/53 |
- |
4 |
X-107846286-C-T |
c.2239C>T |
p.P747S |
Missense |
28/53 |
- |
1 |
X-107846287-C-G |
c.2240C>G |
p.P747R |
Missense |
28/53 |
- |
1 |
X-107846291-G-T |
c.2244G>T |
p.K748N |
Missense |
28/53 |
- |
2 |
X-107846292-G-A |
c.2244+1G>A |
- |
IntronicSNV |
- |
28/52 |
1 |
X-107846292-G-T |
c.2244+1G>T |
- |
IntronicSNV |
- |
28/52 |
1 |
X-107846293-T-G |
c.2244+2T>G |
- |
IntronicSNV |
- |
28/52 |
1 |
X-107846310-T-C |
c.2244+19T>C |
- |
IntronicSNV |
- |
28/52 |
1 |
X-107846448-C-T |
c.2244+157C>T |
- |
IntronicSNV |
- |
28/52 |
1 |
X-107849889-C-T |
c.2245-83C>T |
- |
IntronicSNV |
- |
28/52 |
1 |
X-107849932-A-G |
c.2245-40A>G |
- |
IntronicSNV |
- |
28/52 |
1 |
X-107849972-G-A |
c.2245G>A |
p.G749S |
Missense |
29/53 |
- |
1 |
X-107849973-G-A |
c.2246G>A |
p.G749D |
Missense |
29/53 |
- |
2 |
X-107849973-G-T |
c.2246G>T |
p.G749V |
Missense |
29/53 |
- |
1 |
X-107849979-C-A |
c.2252C>A |
p.P751Q |
Missense |
29/53 |
- |
1 |
X-107849982-G-A |
c.2255G>A |
p.G752E |
Missense |
29/53 |
- |
7 |
X-107849982-G-T |
c.2255G>T |
p.G752V |
Missense |
29/53 |
- |
2 |
X-107849984-T-G |
c.2257T>G |
p.F753V |
Missense |
29/53 |
- |
1 |
X-107849987-G-C |
c.2260G>C |
p.A754P |
Missense |
29/53 |
- |
2 |
X-107849988-C-T |
c.2261C>T |
p.A754V |
Missense |
29/53 |
- |
1 |
X-107849989-A-G |
c.2262A>G |
p.A754= |
Synonymous |
29/53 |
- |
1 |
X-107849991-T-A |
c.2264T>A |
p.L755* |
Nonsense |
29/53 |
- |
2 |
X-107849991-T-G |
c.2264T>G |
p.L755* |
Nonsense |
29/53 |
- |
3 |
X-107849993-C-T |
c.2266C>T |
p.P756S |
Missense |
29/53 |
- |
4 |
X-107849999-C-T |
c.2272C>T |
p.P758S |
Missense |
29/53 |
- |
1 |
X-107850002-C-A |
c.2275C>A |
p.P759T |
Missense |
29/53 |
- |
1 |
X-107850002-C-T |
c.2275C>T |
p.P759S |
Missense |
29/53 |
- |
1 |
X-107850003-C-G |
c.2276C>G |
p.P759R |
Missense |
29/53 |
- |
1 |
X-107850005-G-T |
c.2278G>T |
p.G760W |
Missense |
29/53 |
- |
1 |
X-107850012-C-A |
c.2285C>A |
p.P762Q |
Missense |
29/53 |
- |
1 |
X-107850014-G-A |
c.2287G>A |
p.G763R |
Missense |
29/53 |
- |
4 |
X-107850014-G-C |
c.2287G>C |
p.G763R |
Missense |
29/53 |
- |
1 |
X-107850015-G-A |
c.2288G>A |
p.G763E |
Missense |
29/53 |
- |
7 |
X-107850015-G-T |
c.2288G>T |
p.G763V |
Missense |
29/53 |
- |
2 |
X-107850017-C-T |
c.2290C>T |
p.L764F |
Missense |
29/53 |
- |
1 |
X-107850024-G-A |
c.2297G>A |
p.G766D |
Missense |
29/53 |
- |
3 |
X-107850024-G-T |
c.2297G>T |
p.G766V |
Missense |
29/53 |
- |
2 |
X-107850026-T-C |
c.2299T>C |
p.F767L |
Missense |
29/53 |
- |
1 |
X-107850024-G-GT |
c.2300dup |
p.K768Qfs*9 |
Frameshift |
29/53 |
- |
1 |
X-107850027-T-C |
c.2300T>C |
p.F767S |
Missense |
29/53 |
- |
1 |
X-107850029-A-G |
c.2302A>G |
p.K768E |
Missense |
29/53 |
- |
2 |
X-107850030-A-G |
c.2303A>G |
p.K768R |
Missense |
29/53 |
- |
1 |
X-107850032-G-A |
c.2305G>A |
p.G769R |
Missense |
29/53 |
- |
2 |
X-107850033-G-A |
c.2306G>A |
p.G769E |
Missense |
29/53 |
- |
3 |
X-107850033-G-T |
c.2306G>T |
p.G769V |
Missense |
29/53 |
- |
3 |
X-107850036-C-G |
c.2309C>G |
p.A770G |
Missense |
29/53 |
- |
2 |
X-107850038-C-T |
c.2311C>T |
p.L771F |
Missense |
29/53 |
- |
1 |
X-107850039-T-A |
c.2312T>A |
p.L771H |
Missense |
29/53 |
- |
1 |
X-107850041-G-A |
c.2314G>A |
p.G772S |
Missense |
29/53 |
- |
3 |
X-107850041-G-C |
c.2314G>C |
p.G772R |
Missense |
29/53 |
- |
1 |
X-107850042-G-A |
c.2315G>A |
p.G772D |
Missense |
29/53 |
- |
4 |
X-107850042-G-C |
c.2315G>C |
p.G772A |
Missense |
29/53 |
- |
2 |
X-107850042-G-T |
c.2315G>T |
p.G772V |
Missense |
29/53 |
- |
3 |
X-107850044-C-T |
c.2317C>T |
p.P773S |
Missense |
29/53 |
- |
4 |
X-107850045-C-CA |
c.2322dup |
p.G775Rfs*2 |
Frameshift |
29/53 |
- |
1 |
X-107850051-G-A |
c.2324G>A |
p.G775D |
Missense |
29/53 |
- |
2 |
X-107850051-G-C |
c.2324G>C |
p.G775A |
Missense |
29/53 |
- |
1 |
X-107850053-G-A |
c.2326G>A |
p.D776N |
Missense |
29/53 |
- |
3 |
X-107850056-CG-GC |
c.2329_2330delinsGC |
p.R777A |
Missense |
29/53 |
- |
1 |
X-107850056-C-T |
c.2329C>T |
p.R777C |
Missense |
29/53 |
- |
8 |
X-107850057-G-A |
c.2330G>A |
p.R777H |
Missense |
29/53 |
- |
4 |
X-107850059-G-A |
c.2332G>A |
p.G778S |
Missense |
29/53 |
- |
3 |
X-107850059-G-C |
c.2332G>C |
p.G778R |
Missense |
29/53 |
- |
4 |
X-107850060-G-A |
c.2333G>A |
p.G778D |
Missense |
29/53 |
- |
3 |
X-107850065-C-G |
c.2338C>G |
p.P780A |
Missense |
29/53 |
- |
4 |
X-107850066-C-T |
c.2339C>T |
p.P780L |
Missense |
29/53 |
- |
1 |
X-107850068-GGA-AGC |
c.2341_2343delinsAGC |
p.G781S |
Missense |
29/53 |
- |
1 |
X-107850072-C-T |
c.2345C>T |
p.P782L |
Missense |
29/53 |
- |
1 |
X-107850073-TC-T |
c.2348del |
p.P783Rfs*9 |
Frameshift |
29/53 |
- |
1 |
X-107850075-C-T |
c.2348C>T |
p.P783L |
Missense |
29/53 |
- |
2 |
X-107850076-G-A |
c.2349G>A |
p.P783= |
Synonymous |
29/53 |
- |
11 |
X-107850077-G-C |
c.2350G>C |
p.G784R |
Missense |
29/53 |
- |
1 |
X-107850078-G-A |
c.2351G>A |
p.G784D |
Missense |
29/53 |
- |
1 |
X-107850078-G-T |
c.2351G>T |
p.G784V |
Missense |
29/53 |
- |
2 |
X-107850080-C-G |
c.2353C>G |
p.P785A |
Missense |
29/53 |
- |
1 |
X-107850081-C-T |
c.2354C>T |
p.P785L |
Missense |
29/53 |
- |
3 |
X-107850084-C-T |
c.2357C>T |
p.P786L |
Missense |
29/53 |
- |
1 |
X-107850085-A-G |
c.2358A>G |
p.P786= |
Synonymous |
29/53 |
- |
1 |
X-107850086-G-A |
c.2359G>A |
p.G787R |
Missense |
29/53 |
- |
4 |
X-107850086-G-C |
c.2359G>C |
p.G787R |
Missense |
29/53 |
- |
1 |
X-107850086-GGA-TGT |
c.2359_2361delinsTGT |
p.G787C |
Missense |
29/53 |
- |
1 |
X-107850087-G-C |
c.2360G>C |
p.G787A |
Missense |
29/53 |
- |
1 |
X-107850087-G-T |
c.2360G>T |
p.G787V |
Missense |
29/53 |
- |
3 |
X-107850089-C-T |
c.2362C>T |
p.R788C |
Missense |
29/53 |
- |
4 |
X-107850090-G-A |
c.2363G>A |
p.R788H |
Missense |
29/53 |
- |
3 |
X-107850090-G-T |
c.2363G>T |
p.R788L |
Missense |
29/53 |
- |
1 |
X-107850092-A-C |
c.2365A>C |
p.T789P |
Missense |
29/53 |
- |
1 |
X-107850093-CT-TG |
c.2366_2367delinsTG |
p.T789M |
Missense |
29/53 |
- |
1 |
X-107850091-CACTGGCTTAGATGGGCTCCCTGG-C |
c.2367_2389del |
p.G790Kfs*3 |
Frameshift |
29/53 |
- |
1 |
X-107850092-ACTGGCTTAGATGGGCTCC-A |
c.2370_2387del |
p.L791_G796del |
InFrameDeletion |
29/53 |
- |
1 |
X-107850098-T-G |
c.2371T>G |
p.L791V |
Missense |
29/53 |
- |
1 |
X-107850100-A-G |
c.2373A>G |
p.L791= |
Synonymous |
29/53 |
- |
1 |
X-107850105-G-A |
c.2378G>A |
p.G793E |
Missense |
29/53 |
- |
4 |
X-107850105-G-C |
c.2378G>C |
p.G793A |
Missense |
29/53 |
- |
2 |
X-107850106-G-A |
c.2379G>A |
p.G793= |
Synonymous |
29/53 |
- |
1 |
X-107850106-G-C |
c.2379G>C |
p.G793= |
Synonymous |
29/53 |
- |
1 |
X-107850106-G-T |
c.2379G>T |
p.G793= |
Synonymous |
29/53 |
- |
1 |
X-107850107-C-T |
c.2380C>T |
p.L794F |
Missense |
29/53 |
- |
2 |
X-107850109-C-A |
c.2382C>A |
p.L794= |
Synonymous |
29/53 |
- |
1 |
X-107850111-C-A |
c.2384C>A |
p.P795H |
Missense |
29/53 |
- |
1 |
X-107850111-C-T |
c.2384C>T |
p.P795L |
Missense |
29/53 |
- |
2 |
X-107850113-G-A |
c.2386G>A |
p.G796R |
Missense |
29/53 |
- |
4 |
X-107850113-G-C |
c.2386G>C |
p.G796R |
Missense |
29/53 |
- |
2 |
X-107850113-GGA-AGC |
c.2386_2388delinsAGC |
p.G796S |
Missense |
29/53 |
- |
1 |
X-107850114-G-A |
c.2387G>A |
p.G796E |
Missense |
29/53 |
- |
1 |
X-107850114-G-C |
c.2387G>C |
p.G796A |
Missense |
29/53 |
- |
1 |
X-107850114-G-T |
c.2387G>T |
p.G796V |
Missense |
29/53 |
- |
2 |
X-107850116-C-T |
c.2389C>T |
p.P797S |
Missense |
29/53 |
- |
1 |
X-107850117-C-T |
c.2390C>T |
p.P797L |
Missense |
29/53 |
- |
2 |
X-107850119-A-G |
c.2392A>G |
p.K798E |
Missense |
29/53 |
- |
1 |
X-107850121-A-G |
c.2394A>G |
p.K798= |
Synonymous |
29/53 |
- |
4 |
X-107850121-A-T |
c.2394A>T |
p.K798N |
Missense |
29/53 |
- |
1 |
X-107850122-AGG-A |
c.2395_2395+1del |
- |
SpliceDonorDeletion |
29/53 |
29/52 |
1 |
X-107850122-G-A |
c.2395G>A |
p.G799S |
Missense |
29/53 |
- |
1 |
X-107850123-G-A |
c.2395+1G>A |
- |
IntronicSNV |
- |
29/52 |
2 |
X-107850124-GT-G |
c.2395+2del |
- |
IntronicDeletion |
- |
29/52 |
1 |
X-107850124-T-A |
c.2395+2T>A |
- |
IntronicSNV |
- |
29/52 |
1 |
X-107850125-A-G |
c.2395+3A>G |
- |
IntronicSNV |
- |
29/52 |
1 |
X-107850335-T-A |
c.2395+213T>A |
- |
IntronicSNV |
- |
29/52 |
3 |
X-107850335-T-G |
c.2395+213T>G |
- |
IntronicSNV |
- |
29/52 |
4 |
X-107851397-C-G |
c.2395+1275C>G |
- |
IntronicSNV |
- |
29/52 |
2 |
X-107851414-G-T |
c.2395+1292G>T |
- |
IntronicSNV |
- |
29/52 |
2 |
X-107852872-A-G |
c.2395+2750A>G |
- |
IntronicSNV |
- |
29/52 |
3 |
X-107858141-G-A |
c.2396G>A |
p.G799D |
Missense |
30/53 |
- |
3 |
X-107858143-G-T |
c.2398G>T |
p.D800Y |
Missense |
30/53 |
- |
1 |
X-107858145-T-A |
c.2400T>A |
p.D800E |
Missense |
30/53 |
- |
1 |
X-107858148-T-C |
c.2403T>C |
p.V801= |
Synonymous |
30/53 |
- |
1 |
X-107858149-G-A |
c.2404G>A |
p.G802R |
Missense |
30/53 |
- |
5 |
X-107858149-G-C |
c.2404G>C |
p.G802R |
Missense |
30/53 |
- |
2 |
X-107858150-G-T |
c.2405G>T |
p.G802V |
Missense |
30/53 |
- |
2 |
X-107858153-C-T |
c.2408C>T |
p.P803L |
Missense |
30/53 |
- |
2 |
X-107858158-G-A |
c.2413G>A |
p.G805R |
Missense |
30/53 |
- |
1 |
X-107858159-G-A |
c.2414G>A |
p.G805E |
Missense |
30/53 |
- |
3 |
X-107858159-G-T |
c.2414G>T |
p.G805V |
Missense |
30/53 |
- |
1 |
X-107858161-C-T |
c.2416C>T |
p.Q806* |
Nonsense |
30/53 |
- |
1 |
X-107858162-A-G |
c.2417A>G |
p.Q806R |
Missense |
30/53 |
- |
1 |
X-107858165-C-G |
c.2420C>G |
p.P807R |
Missense |
30/53 |
- |
2 |
X-107858167-G-A |
c.2422G>A |
p.G808R |
Missense |
30/53 |
- |
1 |
X-107858167-G-C |
c.2422G>C |
p.G808R |
Missense |
30/53 |
- |
1 |
X-107858166-TG-T |
c.2423del |
p.G808Dfs*11 |
Frameshift |
30/53 |
- |
1 |
X-107858168-G-A |
c.2423G>A |
p.G808E |
Missense |
30/53 |
- |
5 |
X-107858168-G-T |
c.2423G>T |
p.G808V |
Missense |
30/53 |
- |
1 |
X-107858168-GACCA-G |
c.2425_2428del |
p.P809Wfs*9 |
Frameshift |
30/53 |
- |
1 |
X-107858171-C-T |
c.2426C>T |
p.P809L |
Missense |
30/53 |
- |
1 |
X-107858173-A-G |
c.2428A>G |
p.M810V |
Missense |
30/53 |
- |
2 |
X-107858175-G-A |
c.2430G>A |
p.M810I |
Missense |
30/53 |
- |
1 |
X-107858175-G-T |
c.2430G>T |
p.M810I |
Missense |
30/53 |
- |
1 |
X-107858176-G-A |
c.2431G>A |
p.G811R |
Missense |
30/53 |
- |
4 |
X-107858176-G-C |
c.2431G>C |
p.G811R |
Missense |
30/53 |
- |
1 |
X-107858176-GG-CT |
c.2431_2432delinsCT |
p.G811L |
Missense |
30/53 |
- |
1 |
X-107858176-GG-TT |
c.2431_2432delinsTT |
p.G811L |
Missense |
30/53 |
- |
1 |
X-107858176-G-T |
c.2431G>T |
p.G811* |
Nonsense |
30/53 |
- |
1 |
X-107858177-G-T |
c.2432G>T |
p.G811V |
Missense |
30/53 |
- |
5 |
X-107858179-CCTCCTGG-AACCTGGACCAATGGGACCAATGGGAACAC |
c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC |
p.P812Nfs*50 |
Frameshift |
30/53 |
- |
1 |
X-107858179-C-T |
c.2434C>T |
p.P812S |
Missense |
30/53 |
- |
2 |
X-107858180-C-A |
c.2435C>A |
p.P812H |
Missense |
30/53 |
- |
1 |
X-107858182-C-T |
c.2437C>T |
p.P813S |
Missense |
30/53 |
- |
1 |
X-107858188-C-T |
c.2443C>T |
p.L815= |
Synonymous |
30/53 |
- |
1 |
X-107858193-A-T |
c.2448A>T |
p.P816= |
Synonymous |
30/53 |
- |
1 |
X-107858195-G-A |
c.2450G>A |
p.G817E |
Missense |
30/53 |
- |
2 |
X-107858200-G-A |
c.2455G>A |
p.G819S |
Missense |
30/53 |
- |
1 |
X-107858209-G-A |
c.2464G>A |
p.G822R |
Missense |
30/53 |
- |
2 |
X-107858209-G-C |
c.2464G>C |
p.G822R |
Missense |
30/53 |
- |
3 |
X-107858210-G-A |
c.2465G>A |
p.G822E |
Missense |
30/53 |
- |
2 |
X-107858210-GA-AC |
c.2465_2466delinsAC |
p.G822D |
Missense |
30/53 |
- |
1 |
X-107858210-G-T |
c.2465G>T |
p.G822V |
Missense |
30/53 |
- |
3 |
X-107858212-C-T |
c.2467C>T |
p.P823S |
Missense |
30/53 |
- |
3 |
X-107858216-C-A |
c.2471C>A |
p.P824Q |
Missense |
30/53 |
- |
1 |
X-107858216-C-CA |
c.2472dup |
p.G825Rfs*30 |
Frameshift |
30/53 |
- |
1 |
X-107858218-G-A |
c.2473G>A |
p.G825R |
Missense |
30/53 |
- |
4 |
X-107858218-G-C |
c.2473G>C |
p.G825R |
Missense |
30/53 |
- |
2 |
X-107858218-G-T |
c.2473G>T |
p.G825* |
Nonsense |
30/53 |
- |
2 |
X-107858219-G-A |
c.2474G>A |
p.G825E |
Missense |
30/53 |
- |
2 |
X-107858208-GGGACCACCA-G |
c.2475_2483del |
p.P826_G828del |
InFrameDeletion |
30/53 |
- |
2 |
X-107858220-A-T |
c.2475A>T |
p.G825= |
Synonymous |
30/53 |
- |
1 |
X-107858220-AC-A |
c.2477del |
p.P826Hfs*8 |
Frameshift |
30/53 |
- |
2 |
X-107858222-C-A |
c.2477C>A |
p.P826Q |
Missense |
30/53 |
- |
3 |
X-107858225-C-A |
c.2480C>A |
p.P827Q |
Missense |
30/53 |
- |
3 |
X-107858227-G-A |
c.2482G>A |
p.G828R |
Missense |
30/53 |
- |
8 |
X-107858227-G-C |
c.2482G>C |
p.G828R |
Missense |
30/53 |
- |
3 |
X-107858227-GGG-AGC |
c.2482_2484delinsAGC |
p.G828S |
Missense |
30/53 |
- |
1 |
X-107858227-G-T |
c.2482G>T |
p.G828W |
Missense |
30/53 |
- |
1 |
X-107858228-G-A |
c.2483G>A |
p.G828E |
Missense |
30/53 |
- |
3 |
X-107858228-GG-AC |
c.2483_2484delinsAC |
p.G828D |
Missense |
30/53 |
- |
3 |
X-107858228-GG-AT |
c.2483_2484delinsAT |
p.G828D |
Missense |
30/53 |
- |
1 |
X-107858229-G-A |
c.2484G>A |
p.G828= |
Synonymous |
30/53 |
- |
3 |
X-107858229-G-C |
c.2484G>C |
p.G828= |
Synonymous |
30/53 |
- |
1 |
X-107858229-G-T |
c.2484G>T |
p.G828= |
Synonymous |
30/53 |
- |
2 |
X-107858231-T-A |
c.2486T>A |
p.I829N |
Missense |
30/53 |
- |
2 |
X-107858236-G-C |
c.2491G>C |
p.G831R |
Missense |
30/53 |
- |
1 |
X-107858236-G-T |
c.2491G>T |
p.G831W |
Missense |
30/53 |
- |
1 |
X-107858238-G-A |
c.2493G>A |
p.G831= |
Synonymous |
30/53 |
- |
2 |
X-107858239-C-T |
c.2494C>T |
p.P832S |
Missense |
30/53 |
- |
1 |
X-107858242-A-G |
c.2497A>G |
p.I833V |
Missense |
30/53 |
- |
1 |
X-107858245-G-C |
c.2500G>C |
p.G834R |
Missense |
30/53 |
- |
2 |
X-107858246-G-A |
c.2501G>A |
p.G834D |
Missense |
30/53 |
- |
1 |
X-107858254-G-A |
c.2509G>A |
p.G837S |
Missense |
30/53 |
- |
5 |
X-107858256-T-G |
c.2509+2T>G |
- |
IntronicSNV |
- |
30/52 |
1 |
X-107858304-T-G |
c.2509+50T>G |
- |
IntronicSNV |
- |
30/52 |
3 |
X-107858352-A-C |
c.2509+98A>C |
- |
IntronicSNV |
- |
30/52 |
1 |
X-107858352-A-G |
c.2509+98A>G |
- |
IntronicSNV |
- |
30/52 |
1 |
X-107858352-A-T |
c.2509+98A>T |
- |
IntronicSNV |
- |
30/52 |
1 |
X-107858399-T-A |
c.2509+145T>A |
- |
IntronicSNV |
- |
30/52 |
2 |
X-107859872-C-T |
c.2509+1618C>T |
- |
IntronicSNV |
- |
30/52 |
1 |
X-107863487-A-G |
c.2510-2A>G |
- |
IntronicSNV |
- |
30/52 |
1 |
X-107863487-AG-A |
c.2510del |
p.G837Vfs*38 |
Frameshift |
31/53 |
- |
1 |
X-107863491-TTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTGGACTTGATGTTCCAGG-T |
c.2512_2570del |
p.L838Tfs*4 |
Unclassified |
31/53 |
- |
1 |
X-107863495-A-C |
c.2516A>C |
p.H839P |
Missense |
31/53 |
- |
1 |
X-107863497-G-A |
c.2518G>A |
p.G840R |
Missense |
31/53 |
- |
2 |
X-107863497-GG-AA |
c.2518_2519delinsAA |
p.G840K |
Missense |
31/53 |
- |
1 |
X-107863498-G-A |
c.2519G>A |
p.G840E |
Missense |
31/53 |
- |
2 |
X-107863498-G-C |
c.2519G>C |
p.G840A |
Missense |
31/53 |
- |
1 |
X-107863499-A-C |
c.2520A>C |
p.G840= |
Synonymous |
31/53 |
- |
1 |
X-107863499-A-G |
c.2520A>G |
p.G840= |
Synonymous |
31/53 |
- |
1 |
X-107863499-A-T |
c.2520A>T |
p.G840= |
Synonymous |
31/53 |
- |
1 |
X-107863507-GA-AC |
c.2528_2529delinsAC |
p.G843D |
Missense |
31/53 |
- |
1 |
X-107863509-G-A |
c.2530G>A |
p.E844K |
Missense |
31/53 |
- |
2 |
X-107863512-A-G |
c.2533A>G |
p.K845E |
Missense |
31/53 |
- |
1 |
X-107863513-A-C |
c.2534A>C |
p.K845T |
Missense |
31/53 |
- |
2 |
X-107863516-G-A |
c.2537G>A |
p.G846E |
Missense |
31/53 |
- |
3 |
X-107863518-G-A |
c.2539G>A |
p.D847N |
Missense |
31/53 |
- |
7 |
X-107863520-T-C |
c.2541T>C |
p.D847= |
Synonymous |
31/53 |
- |
1 |
X-107863524-G-A |
c.2545G>A |
p.G849R |
Missense |
31/53 |
- |
1 |
X-107863525-G-A |
c.2546G>A |
p.G849E |
Missense |
31/53 |
- |
3 |
X-107863527-C-T |
c.2548C>T |
p.P850S |
Missense |
31/53 |
- |
1 |
X-107863528-C-T |
c.2549C>T |
p.P850L |
Missense |
31/53 |
- |
1 |
X-107863519-ATCCAGGACCTCCTGGACTTGATGT-A |
c.2550_2573del |
p.L853_G860del |
InFrameDeletion |
31/53 |
- |
1 |
X-107863531-C-G |
c.2552C>G |
p.P851R |
Missense |
31/53 |
- |
1 |
X-107863531-C-T |
c.2552C>T |
p.P851L |
Missense |
31/53 |
- |
1 |
X-107863533-G-A |
c.2554G>A |
p.G852R |
Missense |
31/53 |
- |
3 |
X-107863533-G-C |
c.2554G>C |
p.G852R |
Missense |
31/53 |
- |
1 |
X-107863534-G-A |
c.2555G>A |
p.G852E |
Missense |
31/53 |
- |
5 |
X-107863534-G-T |
c.2555G>T |
p.G852V |
Missense |
31/53 |
- |
1 |
X-107863536-C-T |
c.2557C>T |
p.L853F |
Missense |
31/53 |
- |
1 |
X-107863537-T-A |
c.2558T>A |
p.L853H |
Missense |
31/53 |
- |
1 |
X-107863539-G-A |
c.2560G>A |
p.D854N |
Missense |
31/53 |
- |
1 |
X-107863540-A-G |
c.2561A>G |
p.D854G |
Missense |
31/53 |
- |
1 |
X-107863542-G-T |
c.2563G>T |
p.V855F |
Missense |
31/53 |
- |
1 |
X-107863551-C-A |
c.2572C>A |
p.P858T |
Missense |
31/53 |
- |
1 |
X-107863552-C-A |
c.2573C>A |
p.P858H |
Missense |
31/53 |
- |
1 |
X-107863552-C-G |
c.2573C>G |
p.P858R |
Missense |
31/53 |
- |
2 |
X-107863555-C-A |
c.2576C>A |
p.P859Q |
Missense |
31/53 |
- |
1 |
X-107863557-G-A |
c.2578G>A |
p.G860S |
Missense |
31/53 |
- |
1 |
X-107863557-G-C |
c.2578G>C |
p.G860R |
Missense |
31/53 |
- |
2 |
X-107863558-G-A |
c.2579G>A |
p.G860D |
Missense |
31/53 |
- |
2 |
X-107863562-A-G |
c.2583A>G |
p.E861= |
Synonymous |
31/53 |
- |
3 |
X-107863563-AGA-TGT |
c.2584_2586delinsTGT |
p.R862C |
Missense |
31/53 |
- |
1 |
X-107863566-AGGCAGTCCAGGGATCCCCGG-A |
c.2587_2606del |
p.G863Sfs*28 |
Frameshift |
31/53 |
- |
1 |
X-107863566-G-A |
c.2587G>A |
p.G863S |
Missense |
31/53 |
- |
2 |
X-107863567-G-A |
c.2588G>A |
p.G863D |
Missense |
31/53 |
- |
1 |
X-107863568-GCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTC-G |
c.2592_2650del |
p.S864Rfs*14 |
InFrameDeletion |
31/53 |
- |
1 |
X-107863568-GC-G |
c.2589del |
p.S864Vfs*11 |
Frameshift |
31/53 |
- |
1 |
X-107863569-A-C |
c.2590A>C |
p.S864R |
Missense |
31/53 |
- |
1 |
X-107863569-CAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA-C |
c.2590_2625del |
p.S864_G875del |
InFrameDeletion |
31/53 |
- |
1 |
X-107863572-C-G |
c.2593C>G |
p.P865A |
Missense |
31/53 |
- |
1 |
X-107863572-C-T |
c.2593C>T |
p.P865S |
Missense |
31/53 |
- |
1 |
X-107863571-TCCAGGGATCCCCGGAGCA-T |
c.2595_2612del |
p.I867_G872del |
InFrameDeletion |
31/53 |
- |
1 |
X-107863575-G-A |
c.2596G>A |
p.G866R |
Missense |
31/53 |
- |
1 |
X-107863575-G-T |
c.2596G>T |
p.G866W |
Missense |
31/53 |
- |
1 |
X-107863576-G-A |
c.2597G>A |
p.G866E |
Missense |
31/53 |
- |
9 |
X-107863576-G-T |
c.2597G>T |
p.G866V |
Missense |
31/53 |
- |
5 |
X-107863577-G-A |
c.2598G>A |
p.G866= |
Synonymous |
31/53 |
- |
1 |
X-107863577-G-C |
c.2598G>C |
p.G866= |
Synonymous |
31/53 |
- |
1 |
X-107863577-G-T |
c.2598G>T |
p.G866= |
Synonymous |
31/53 |
- |
1 |
X-107863578-A-AT |
c.2600dup |
p.G869Rfs*29 |
Frameshift |
31/53 |
- |
1 |
X-107863579-T-C |
c.2600T>C |
p.I867T |
Missense |
31/53 |
- |
2 |
X-107863580-C-A |
c.2601C>A |
p.I867= |
Synonymous |
31/53 |
- |
2 |
X-107863580-C-T |
c.2601C>T |
p.I867= |
Synonymous |
31/53 |
- |
6 |
X-107863583-C-A |
c.2604C>A |
p.P868= |
Synonymous |
31/53 |
- |
1 |
X-107863583-C-G |
c.2604C>G |
p.P868= |
Synonymous |
31/53 |
- |
1 |
X-107863583-C-T |
c.2604C>T |
p.P868= |
Synonymous |
31/53 |
- |
1 |
X-107863584-G-A |
c.2605G>A |
p.G869R |
Missense |
31/53 |
- |
19 |
X-107863584-G-C |
c.2605G>C |
p.G869R |
Missense |
31/53 |
- |
11 |
X-107863585-G-A |
c.2606G>A |
p.G869E |
Missense |
31/53 |
- |
2 |
X-107863585-G-T |
c.2606G>T |
p.G869V |
Missense |
31/53 |
- |
3 |
X-107863590-C-A |
c.2611C>A |
p.P871T |
Missense |
31/53 |
- |
1 |
X-107863593-G-C |
c.2614G>C |
p.G872R |
Missense |
31/53 |
- |
3 |
X-107863593-G-T |
c.2614G>T |
p.G872C |
Missense |
31/53 |
- |
2 |
X-107863594-G-C |
c.2615G>C |
p.G872A |
Missense |
31/53 |
- |
2 |
X-107863595-T-A |
c.2616T>A |
p.G872= |
Synonymous |
31/53 |
- |
1 |
X-107863595-T-C |
c.2616T>C |
p.G872= |
Synonymous |
31/53 |
- |
1 |
X-107863595-T-G |
c.2616T>G |
p.G872= |
Synonymous |
31/53 |
- |
1 |
X-107863596-C-T |
c.2617C>T |
p.P873S |
Missense |
31/53 |
- |
6 |
X-107863599-A-G |
c.2620A>G |
p.I874V |
Missense |
31/53 |
- |
2 |
X-107863602-G-C |
c.2623G>C |
p.G875R |
Missense |
31/53 |
- |
2 |
X-107863603-G-A |
c.2624G>A |
p.G875E |
Missense |
31/53 |
- |
3 |
X-107863603-G-T |
c.2624G>T |
p.G875V |
Missense |
31/53 |
- |
1 |
X-107863604-GA-G |
c.2625del |
p.P876Lfs*25 |
Frameshift |
31/53 |
- |
2 |
X-107863609-C-T |
c.2630C>T |
p.P877L |
Missense |
31/53 |
- |
4 |
X-107863611-G-A |
c.2632G>A |
p.G878R |
Missense |
31/53 |
- |
3 |
X-107863611-G-C |
c.2632G>C |
p.G878R |
Missense |
31/53 |
- |
1 |
X-107863611-G-T |
c.2632G>T |
p.G878* |
Nonsense |
31/53 |
- |
1 |
X-107863612-G-A |
c.2633G>A |
p.G878E |
Missense |
31/53 |
- |
4 |
X-107863612-G-T |
c.2633G>T |
p.G878V |
Missense |
31/53 |
- |
2 |
X-107863615-C-A |
c.2636C>A |
p.S879* |
Nonsense |
31/53 |
- |
1 |
X-107863620-G-A |
c.2641G>A |
p.G881R |
Missense |
31/53 |
- |
4 |
X-107863620-G-C |
c.2641G>C |
p.G881R |
Missense |
31/53 |
- |
1 |
X-107863620-GGG-AGC |
c.2641_2643delinsAGC |
p.G881S |
Missense |
31/53 |
- |
1 |
X-107863621-G-T |
c.2642G>T |
p.G881V |
Missense |
31/53 |
- |
2 |
X-107863619-AG-A |
c.2643del |
p.L882Ffs*19 |
Frameshift |
31/53 |
- |
1 |
X-107863623-C-A |
c.2644C>A |
p.L882I |
Missense |
31/53 |
- |
1 |
X-107863626-C-A |
c.2647C>A |
p.P883T |
Missense |
31/53 |
- |
1 |
X-107863629-G-A |
c.2650G>A |
p.G884R |
Missense |
31/53 |
- |
2 |
X-107863629-GGA-AGC |
c.2650_2652delinsAGC |
p.G884S |
Missense |
31/53 |
- |
1 |
X-107863630-G-A |
c.2651G>A |
p.G884E |
Missense |
31/53 |
- |
2 |
X-107863636-C-G |
c.2657C>G |
p.A886G |
Missense |
31/53 |
- |
2 |
X-107863638-G-C |
c.2659G>C |
p.G887R |
Missense |
31/53 |
- |
3 |
X-107863637-AGGT-A |
c.2660_2662del |
p.G887del |
InFrameDeletion |
31/53 |
- |
1 |
X-107863639-G-T |
c.2660G>T |
p.G887V |
Missense |
31/53 |
- |
2 |
X-107863641-G-A |
c.2662G>A |
p.A888T |
Missense |
31/53 |
- |
2 |
X-107863641-G-T |
c.2662G>T |
p.A888S |
Missense |
31/53 |
- |
2 |
X-107863645-C-G |
c.2666C>G |
p.S889C |
Missense |
31/53 |
- |
3 |
X-107863647-G-A |
c.2668G>A |
p.G890R |
Missense |
31/53 |
- |
1 |
X-107863648-G-A |
c.2669G>A |
p.G890E |
Missense |
31/53 |
- |
5 |
X-107863653-C-T |
c.2674C>T |
p.P892S |
Missense |
31/53 |
- |
5 |
X-107863656-G-A |
c.2677G>A |
p.G893S |
Missense |
31/53 |
- |
3 |
X-107863656-G-C |
c.2677G>C |
p.G893R |
Missense |
31/53 |
- |
3 |
X-107863656-G-T |
c.2677G>T |
p.G893C |
Missense |
31/53 |
- |
1 |
X-107863658-T-C |
c.2677+2T>C |
- |
IntronicSNV |
- |
31/52 |
1 |
X-107865033-G-C |
c.2678G>C |
p.G893A |
Missense |
32/53 |
- |
1 |
X-107865033-G-T |
c.2678G>T |
p.G893V |
Missense |
32/53 |
- |
3 |
X-107865034-T-C |
c.2679T>C |
p.G893= |
Synonymous |
32/53 |
- |
1 |
X-107865035-A-G |
c.2680A>G |
p.T894A |
Missense |
32/53 |
- |
2 |
X-107865036-C-T |
c.2681C>T |
p.T894I |
Missense |
32/53 |
- |
2 |
X-107865039-A-G |
c.2684A>G |
p.K895R |
Missense |
32/53 |
- |
1 |
X-107865041-G-A |
c.2686G>A |
p.G896S |
Missense |
32/53 |
- |
2 |
X-107865041-G-T |
c.2686G>T |
p.G896C |
Missense |
32/53 |
- |
2 |
X-107865040-AG-A |
c.2687del |
p.G896Vfs*5 |
Frameshift |
32/53 |
- |
1 |
X-107865042-G-A |
c.2687G>A |
p.G896D |
Missense |
32/53 |
- |
1 |
X-107865044-GA-G |
c.2692del |
p.M898Wfs*3 |
Frameshift |
32/53 |
- |
3 |
X-107865047-A-G |
c.2692A>G |
p.M898V |
Missense |
32/53 |
- |
4 |
X-107865050-G-A |
c.2695G>A |
p.G899S |
Missense |
32/53 |
- |
2 |
X-107865050-G-C |
c.2695G>C |
p.G899R |
Missense |
32/53 |
- |
2 |
X-107865048-TGGGTATGATG-T |
c.2696_2705del |
p.G899Dfs*94 |
Frameshift |
32/53 |
- |
1 |
X-107865051-G-A |
c.2696G>A |
p.G899D |
Missense |
32/53 |
- |
2 |
X-107865051-G-C |
c.2696G>C |
p.G899A |
Missense |
32/53 |
- |
1 |
X-107865051-G-T |
c.2696G>T |
p.G899V |
Missense |
32/53 |
- |
2 |
X-107865055-G-A |
c.2700G>A |
p.M900I |
Missense |
32/53 |
- |
4 |
X-107865056-A-G |
c.2701A>G |
p.M901V |
Missense |
32/53 |
- |
1 |
X-107865060-G-A |
c.2705G>A |
p.G902E |
Missense |
32/53 |
- |
3 |
X-107865060-G-T |
c.2705G>T |
p.G902V |
Missense |
32/53 |
- |
3 |
X-107865061-A-AC |
c.2708dup |
p.P904Sfs*19 |
Frameshift |
32/53 |
- |
1 |
X-107865064-T-C |
c.2709T>C |
p.P903= |
Synonymous |
32/53 |
- |
1 |
X-107865065-C-T |
c.2710C>T |
p.P904S |
Missense |
32/53 |
- |
5 |
X-107865068-G-A |
c.2713G>A |
p.G905S |
Missense |
32/53 |
- |
1 |
X-107865069-G-A |
c.2714G>A |
p.G905D |
Missense |
32/53 |
- |
4 |
X-107865071-C-A |
c.2716C>A |
p.P906T |
Missense |
32/53 |
- |
1 |
X-107865072-C-G |
c.2717C>G |
p.P906R |
Missense |
32/53 |
- |
2 |
X-107865074-C-T |
c.2719C>T |
p.P907S |
Missense |
32/53 |
- |
3 |
X-107865075-C-A |
c.2720C>A |
p.P907Q |
Missense |
32/53 |
- |
1 |
X-107865075-CA-AT |
c.2720_2721delinsAT |
p.P907H |
Missense |
32/53 |
- |
1 |
X-107865075-C-T |
c.2720C>T |
p.P907L |
Missense |
32/53 |
- |
1 |
X-107865077-G-A |
c.2722G>A |
p.G908R |
Missense |
32/53 |
- |
5 |
X-107865077-G-C |
c.2722G>C |
p.G908R |
Missense |
32/53 |
- |
1 |
X-107865078-G-A |
c.2723G>A |
p.G908E |
Missense |
32/53 |
- |
6 |
X-107865085-G-T |
c.2730G>T |
p.L910F |
Missense |
32/53 |
- |
1 |
X-107865086-G-A |
c.2731G>A |
p.G911R |
Missense |
32/53 |
- |
7 |
X-107865086-GG-AA |
c.2731_2732delinsAA |
p.G911K |
Missense |
32/53 |
- |
1 |
X-107865086-G-T |
c.2731G>T |
p.G911* |
Nonsense |
32/53 |
- |
1 |
X-107865087-G-A |
c.2732G>A |
p.G911E |
Missense |
32/53 |
- |
8 |
X-107865092-C-T |
c.2737C>T |
p.P913S |
Missense |
32/53 |
- |
4 |
X-107865093-C-G |
c.2738C>G |
p.P913R |
Missense |
32/53 |
- |
1 |
X-107865093-C-T |
c.2738C>T |
p.P913L |
Missense |
32/53 |
- |
3 |
X-107865095-G-T |
c.2740G>T |
p.G914C |
Missense |
32/53 |
- |
1 |
X-107865096-G-A |
c.2741G>A |
p.G914D |
Missense |
32/53 |
- |
6 |
X-107865098-AG-CT |
c.2743_2744inv |
p.R915L |
Missense |
32/53 |
- |
1 |
X-107865098-A-T |
c.2743A>T |
p.R915W |
Missense |
32/53 |
- |
1 |
X-107865101-A-G |
c.2746A>G |
p.S916G |
Missense |
32/53 |
- |
4 |
X-107865102-G-A |
c.2747G>A |
p.S916N |
Missense |
32/53 |
- |
2 |
X-107865104-G-A |
c.2749G>A |
p.G917S |
Missense |
32/53 |
- |
1 |
X-107865104-G-T |
c.2749G>T |
p.G917C |
Missense |
32/53 |
- |
1 |
X-107865105-G-A |
c.2750G>A |
p.G917D |
Missense |
32/53 |
- |
1 |
X-107865107-G-A |
c.2752G>A |
p.V918I |
Missense |
32/53 |
- |
4 |
X-107865116-C-A |
c.2761C>A |
p.L921I |
Missense |
32/53 |
- |
1 |
X-107865116-C-G |
c.2761C>G |
p.L921V |
Missense |
32/53 |
- |
2 |
X-107865119-A-G |
c.2764A>G |
p.K922E |
Missense |
32/53 |
- |
2 |
X-107865120-A-T |
c.2765A>T |
p.K922I |
Missense |
32/53 |
- |
4 |
X-107865118-TA-T |
c.2766del |
p.G923Vfs*73 |
Frameshift |
32/53 |
- |
1 |
X-107865122-G-C |
c.2767G>C |
p.G923R |
Missense |
32/53 |
- |
4 |
X-107865124-GT-G |
c.2767+2del |
- |
IntronicDeletion |
- |
32/52 |
1 |
X-107865125-A-G |
c.2767+3A>G |
- |
IntronicSNV |
- |
32/52 |
1 |
X-107865126-A-C |
c.2767+4A>C |
- |
IntronicSNV |
- |
32/52 |
1 |
X-107865126-A-G |
c.2767+4A>G |
- |
IntronicSNV |
- |
32/52 |
1 |
X-107865161-G-A |
c.2767+39G>A |
- |
IntronicSNV |
- |
32/52 |
1 |
X-107865895-A-G |
c.2768-11A>G |
- |
IntronicSNV |
- |
32/52 |
9 |
X-107865906-GT-AG |
c.2768_2769delinsAG |
p.G923E |
Missense |
33/53 |
- |
1 |
X-107865911-G-A |
c.2773G>A |
p.D925N |
Missense |
33/53 |
- |
3 |
X-107865914-G-A |
c.2776G>A |
p.G926S |
Missense |
33/53 |
- |
1 |
X-107865913-TG-T |
c.2777del |
p.G926Afs*70 |
Frameshift |
33/53 |
- |
1 |
X-107865915-G-T |
c.2777G>T |
p.G926V |
Missense |
33/53 |
- |
2 |
X-107865920-C-T |
c.2782C>T |
p.Q928* |
Nonsense |
33/53 |
- |
3 |
X-107865924-GT-AG |
c.2786_2787delinsAG |
p.G929E |
Missense |
33/53 |
- |
2 |
X-107865926-C-T |
c.2788C>T |
p.Q930* |
Nonsense |
33/53 |
- |
2 |
X-107865931-A-C |
c.2793A>C |
p.P931= |
Synonymous |
33/53 |
- |
1 |
X-107865931-A-G |
c.2793A>G |
p.P931= |
Synonymous |
33/53 |
- |
1 |
X-107865931-A-T |
c.2793A>T |
p.P931= |
Synonymous |
33/53 |
- |
1 |
X-107865934-A-G |
c.2796A>G |
p.G932= |
Synonymous |
33/53 |
- |
1 |
X-107865935-C-T |
c.2797C>T |
p.L933F |
Missense |
33/53 |
- |
4 |
X-107865938-C-G |
c.2800C>G |
p.P934A |
Missense |
33/53 |
- |
1 |
X-107865938-C-T |
c.2800C>T |
p.P934S |
Missense |
33/53 |
- |
6 |
X-107865939-C-T |
c.2801C>T |
p.P934L |
Missense |
33/53 |
- |
1 |
X-107865939-C-CT |
c.2802dup |
p.G935Wfs*8 |
Frameshift |
33/53 |
- |
1 |
X-107865942-G-A |
c.2804G>A |
p.G935D |
Missense |
33/53 |
- |
4 |
X-107865942-G-T |
c.2804G>T |
p.G935V |
Missense |
33/53 |
- |
2 |
X-107865950-G-C |
c.2812G>C |
p.G938R |
Missense |
33/53 |
- |
1 |
X-107865950-G-T |
c.2812G>T |
p.G938* |
Nonsense |
33/53 |
- |
1 |
X-107865951-G-A |
c.2813G>A |
p.G938E |
Missense |
33/53 |
- |
3 |
X-107865953-G-T |
c.2815G>T |
p.E939* |
Nonsense |
33/53 |
- |
1 |
X-107865957-A-C |
c.2819A>C |
p.K940T |
Missense |
33/53 |
- |
1 |
X-107865958-A-T |
c.2820A>T |
p.K940N |
Missense |
33/53 |
- |
1 |
X-107865959-G-C |
c.2821G>C |
p.G941R |
Missense |
33/53 |
- |
3 |
X-107865959-G-T |
c.2821G>T |
p.G941C |
Missense |
33/53 |
- |
6 |
X-107865960-G-A |
c.2822G>A |
p.G941D |
Missense |
33/53 |
- |
4 |
X-107865959-GGTA-G |
c.2825_2827del |
p.S942del |
InFrameDeletion |
33/53 |
- |
1 |
X-107865965-A-T |
c.2827A>T |
p.K943* |
Nonsense |
33/53 |
- |
1 |
X-107865968-G-A |
c.2830G>A |
p.G944R |
Missense |
33/53 |
- |
5 |
X-107865968-G-C |
c.2830G>C |
p.G944R |
Missense |
33/53 |
- |
3 |
X-107865968-GG-AA |
c.2830_2831delinsAA |
p.G944K |
Missense |
33/53 |
- |
3 |
X-107865967-AG-A |
c.2831del |
p.G944Efs*52 |
Frameshift |
33/53 |
- |
1 |
X-107865969-G-A |
c.2831G>A |
p.G944E |
Missense |
33/53 |
- |
5 |
X-107865971-G-A |
c.2833G>A |
p.E945K |
Missense |
33/53 |
- |
1 |
X-107865973-G-C |
c.2835G>C |
p.E945D |
Missense |
33/53 |
- |
1 |
X-107865973-G-T |
c.2835G>T |
p.E945D |
Missense |
33/53 |
- |
1 |
X-107865974-C-G |
c.2836C>G |
p.P946A |
Missense |
33/53 |
- |
1 |
X-107865974-C-T |
c.2836C>T |
p.P946S |
Missense |
33/53 |
- |
1 |
X-107865978-G-A |
c.2840G>A |
p.G947D |
Missense |
33/53 |
- |
4 |
X-107865980-C-A |
c.2842C>A |
p.L948I |
Missense |
33/53 |
- |
1 |
X-107865980-C-T |
c.2842C>T |
p.L948F |
Missense |
33/53 |
- |
6 |
X-107865982-TC-T |
c.2846del |
p.P949Qfs*47 |
Frameshift |
33/53 |
- |
1 |
X-107865989-C-T |
c.2851C>T |
p.P951S |
Missense |
33/53 |
- |
1 |
X-107865992-C-T |
c.2854C>T |
p.P952S |
Missense |
33/53 |
- |
1 |
X-107865993-C-T |
c.2855C>T |
p.P952L |
Missense |
33/53 |
- |
5 |
X-107865996-G-T |
c.2858G>T |
p.G953V |
Missense |
33/53 |
- |
29 |
X-107865998-C-A |
c.2860C>A |
p.P954T |
Missense |
33/53 |
- |
2 |
X-107865999-C-A |
c.2861C>A |
p.P954Q |
Missense |
33/53 |
- |
1 |
X-107866002-T-C |
c.2864T>C |
p.M955T |
Missense |
33/53 |
- |
1 |
X-107866003-G-A |
c.2865G>A |
p.M955I |
Missense |
33/53 |
- |
7 |
X-107866003-G-C |
c.2865G>C |
p.M955I |
Missense |
33/53 |
- |
2 |
X-107866003-G-T |
c.2865G>T |
p.M955I |
Missense |
33/53 |
- |
2 |
X-107866004-G-A |
c.2866G>A |
p.D956N |
Missense |
33/53 |
- |
2 |
X-107866004-G-T |
c.2866G>T |
p.D956Y |
Missense |
33/53 |
- |
1 |
X-107866013-C-G |
c.2875C>G |
p.L959V |
Missense |
33/53 |
- |
2 |
X-107866013-C-T |
c.2875C>T |
p.L959F |
Missense |
33/53 |
- |
1 |
X-107866014-T-C |
c.2876T>C |
p.L959P |
Missense |
33/53 |
- |
1 |
X-107866019-G-T |
c.2881G>T |
p.G961C |
Missense |
33/53 |
- |
1 |
X-107866020-G-T |
c.2882G>T |
p.G961V |
Missense |
33/53 |
- |
2 |
X-107866021-C-A |
c.2883C>A |
p.G961= |
Synonymous |
33/53 |
- |
1 |
X-107866026-A-C |
c.2888A>C |
p.K963T |
Missense |
33/53 |
- |
1 |
X-107866028-G-A |
c.2890G>A |
p.G964R |
Missense |
33/53 |
- |
1 |
X-107866028-G-C |
c.2890G>C |
p.G964R |
Missense |
33/53 |
- |
1 |
X-107866028-G-T |
c.2890G>T |
p.G964* |
Nonsense |
33/53 |
- |
1 |
X-107866029-G-A |
c.2891G>A |
p.G964E |
Missense |
33/53 |
- |
7 |
X-107866033-G-A |
c.2895G>A |
p.E965= |
Synonymous |
33/53 |
- |
3 |
X-107866036-G-C |
c.2898G>C |
p.K966N |
Missense |
33/53 |
- |
1 |
X-107866036-G-T |
c.2898G>T |
p.K966N |
Missense |
33/53 |
- |
1 |
X-107866037-G-A |
c.2899G>A |
p.G967R |
Missense |
33/53 |
- |
2 |
X-107866038-G-A |
c.2900G>A |
p.G967E |
Missense |
33/53 |
- |
1 |
X-107866040-G-A |
c.2902G>A |
p.E968K |
Missense |
33/53 |
- |
6 |
X-107866041-A-AG |
c.2903_2904insG |
p.P969Tfs*42 |
Frameshift |
33/53 |
- |
1 |
X-107866040-GA-G |
c.2904del |
p.E968Dfs*28 |
Frameshift |
33/53 |
- |
1 |
X-107866043-C-G |
c.2905C>G |
p.P969A |
Missense |
33/53 |
- |
1 |
X-107866044-C-A |
c.2906C>A |
p.P969H |
Missense |
33/53 |
- |
2 |
X-107866048-C-A |
c.2910C>A |
p.G970= |
Synonymous |
33/53 |
- |
1 |
X-107866048-C-G |
c.2910C>G |
p.G970= |
Synonymous |
33/53 |
- |
1 |
X-107866048-C-T |
c.2910C>T |
p.G970= |
Synonymous |
33/53 |
- |
1 |
X-107866049-T-C |
c.2911T>C |
p.L971= |
Synonymous |
33/53 |
- |
2 |
X-107866052-C-G |
c.2914C>G |
p.P972A |
Missense |
33/53 |
- |
1 |
X-107866056-G-C |
c.2917+1G>C |
- |
IntronicSNV |
- |
33/52 |
1 |
X-107866056-G-T |
c.2917+1G>T |
- |
IntronicSNV |
- |
33/52 |
1 |
X-107867298-G-A |
c.2918-168G>A |
- |
IntronicSNV |
- |
33/52 |
2 |
X-107867466-G-A |
c.2918G>A |
p.G973D |
Missense |
34/53 |
- |
5 |
X-107867466-G-C |
c.2918G>C |
p.G973A |
Missense |
34/53 |
- |
1 |
X-107867474-G-A |
c.2926G>A |
p.G976R |
Missense |
34/53 |
- |
1 |
X-107867475-G-A |
c.2927G>A |
p.G976E |
Missense |
34/53 |
- |
1 |
X-107867474-GGA-G |
c.2928_2929del |
p.V977Ffs*33 |
Frameshift |
34/53 |
- |
1 |
X-107867476-A-G |
c.2928A>G |
p.G976= |
Synonymous |
34/53 |
- |
1 |
X-107867477-G-A |
c.2929G>A |
p.V977I |
Missense |
34/53 |
- |
1 |
X-107867477-GT-G |
c.2932del |
p.S978Qfs*18 |
Frameshift |
34/53 |
- |
1 |
X-107867487-CA-C |
c.2943del |
p.G982Vfs*14 |
Frameshift |
34/53 |
- |
1 |
X-107867492-G-T |
c.2944G>T |
p.G982C |
Missense |
34/53 |
- |
1 |
X-107867493-G-A |
c.2945G>A |
p.G982D |
Missense |
34/53 |
- |
1 |
X-107867493-GT-G |
c.2947del |
p.Y983Ifs*13 |
Frameshift |
34/53 |
- |
1 |
X-107867495-T-A |
c.2947T>A |
p.Y983N |
Missense |
34/53 |
- |
1 |
X-107867496-A-G |
c.2948A>G |
p.Y983C |
Missense |
34/53 |
- |
1 |
X-107867499-A-T |
c.2951A>T |
p.Q984L |
Missense |
34/53 |
- |
1 |
X-107867502-G-T |
c.2954G>T |
p.G985V |
Missense |
34/53 |
- |
1 |
X-107867506-G-T |
c.2958G>T |
p.L986F |
Missense |
34/53 |
- |
1 |
X-107867506-TGCCTGGAGACCCAGGGCA-T |
c.2958_2975del |
p.D989_G994del |
InFrameDeletion |
34/53 |
- |
1 |
X-107867511-G-A |
c.2963G>A |
p.G988E |
Missense |
34/53 |
- |
3 |
X-107867511-G-C |
c.2963G>C |
p.G988A |
Missense |
34/53 |
- |
1 |
X-107867506-GCCTGGAGACCCAGGGCAA-G |
c.2965_2982del |
p.D989_G994del |
InFrameDeletion |
34/53 |
- |
3 |
X-107867513-AG-A |
c.2965del |
p.D989Tfs*7 |
Frameshift |
34/53 |
- |
1 |
X-107867516-C-T |
c.2968C>T |
p.P990S |
Missense |
34/53 |
- |
1 |
X-107867517-C-G |
c.2969C>G |
p.P990R |
Missense |
34/53 |
- |
1 |
X-107867521-G-A |
c.2973G>A |
p.G991= |
Synonymous |
34/53 |
- |
1 |
X-107867522-CAACCTGG-C |
c.2976_2982del |
p.Q992Hfs*2 |
Frameshift |
34/53 |
- |
1 |
X-107867528-G-A |
c.2980G>A |
p.G994R |
Missense |
34/53 |
- |
1 |
X-107867527-TG-T |
c.2981del |
p.G994Dfs*2 |
Frameshift |
34/53 |
- |
1 |
X-107867531-C-A |
c.2983C>A |
p.L995M |
Missense |
34/53 |
- |
2 |
X-107867535-G-A |
c.2987G>A |
p.S996N |
Missense |
34/53 |
- |
2 |
X-107867538-G-A |
c.2990G>A |
p.G997E |
Missense |
34/53 |
- |
1 |
X-107867538-G-GGCAACC |
c.2990_2991insGCAACC |
p.Q998_P999dup |
InFrameInsertion |
34/53 |
- |
1 |
X-107867538-G-GGCAACCTGGACTGAGTGT |
c.2990_2991insGCAACCTGGACTGAGTGT |
p.L1001_P1002insSVQPGL |
InFrameInsertion |
34/53 |
- |
1 |
X-107867540-C-A |
c.2992C>A |
p.Q998K |
Missense |
34/53 |
- |
1 |
X-107867540-C-T |
c.2992C>T |
p.Q998* |
Nonsense |
34/53 |
- |
1 |
X-107867544-C-A |
c.2996C>A |
p.P999H |
Missense |
34/53 |
- |
2 |
X-107867547-G-A |
c.2999G>A |
p.G1000E |
Missense |
34/53 |
- |
1 |
X-107867547-G-C |
c.2999G>C |
p.G1000A |
Missense |
34/53 |
- |
1 |
X-107867547-G-T |
c.2999G>T |
p.G1000V |
Missense |
34/53 |
- |
9 |
X-107867548-AT-A |
c.3002del |
p.L1001Yfs*20 |
Frameshift |
34/53 |
- |
1 |
X-107867552-C-T |
c.3004C>T |
p.P1002S |
Missense |
34/53 |
- |
1 |
X-107867553-C-G |
c.3005C>G |
p.P1002R |
Missense |
34/53 |
- |
2 |
X-107867565-G-T |
c.3016+1G>T |
- |
IntronicSNV |
- |
34/52 |
1 |
X-107867740-T-C |
c.3016+176T>C |
- |
IntronicSNV |
- |
34/52 |
2 |
X-107867759-G-A |
c.3016+195G>A |
- |
IntronicSNV |
- |
34/52 |
1 |
X-107868935-G-A |
c.3017G>A |
p.G1006D |
Missense |
35/53 |
- |
3 |
X-107868935-G-C |
c.3017G>C |
p.G1006A |
Missense |
35/53 |
- |
1 |
X-107868935-G-T |
c.3017G>T |
p.G1006V |
Missense |
35/53 |
- |
5 |
X-107868937-C-A |
c.3019C>A |
p.P1007T |
Missense |
35/53 |
- |
1 |
X-107868937-C-T |
c.3019C>T |
p.P1007S |
Missense |
35/53 |
- |
5 |
X-107868938-C-T |
c.3020C>T |
p.P1007L |
Missense |
35/53 |
- |
1 |
X-107868940-A-G |
c.3022A>G |
p.K1008E |
Missense |
35/53 |
- |
1 |
X-107868941-A-G |
c.3023A>G |
p.K1008R |
Missense |
35/53 |
- |
1 |
X-107868944-G-T |
c.3026G>T |
p.G1009V |
Missense |
35/53 |
- |
1 |
X-107868946-A-T |
c.3028A>T |
p.N1010Y |
Missense |
35/53 |
- |
1 |
X-107868947-A-G |
c.3029A>G |
p.N1010S |
Missense |
35/53 |
- |
4 |
X-107868948-C-T |
c.3030C>T |
p.N1010= |
Synonymous |
35/53 |
- |
3 |
X-107868952-G-T |
c.3034G>T |
p.G1012C |
Missense |
35/53 |
- |
2 |
X-107868951-TG-T |
c.3035del |
p.G1012Vfs*9 |
Frameshift |
35/53 |
- |
1 |
X-107868953-G-A |
c.3035G>A |
p.G1012D |
Missense |
35/53 |
- |
1 |
X-107868955-C-T |
c.3037C>T |
p.L1013F |
Missense |
35/53 |
- |
3 |
X-107868957-C-T |
c.3039C>T |
p.L1013= |
Synonymous |
35/53 |
- |
1 |
X-107868958-C-T |
c.3040C>T |
p.P1014S |
Missense |
35/53 |
- |
1 |
X-107868959-C-A |
c.3041C>A |
p.P1014H |
Missense |
35/53 |
- |
1 |
X-107868959-C-T |
c.3041C>T |
p.P1014L |
Missense |
35/53 |
- |
1 |
X-107868962-G-A |
c.3044G>A |
p.G1015E |
Missense |
35/53 |
- |
5 |
X-107868962-G-T |
c.3044G>T |
p.G1015V |
Missense |
35/53 |
- |
3 |
X-107868964-AC-A |
c.3046del |
p.Q1016Sfs*5 |
Frameshift |
35/53 |
- |
1 |
X-107868964-C-T |
c.3046C>T |
p.Q1016* |
Nonsense |
35/53 |
- |
2 |
X-107868970-G-T |
c.3052G>T |
p.G1018C |
Missense |
35/53 |
- |
1 |
X-107868971-G-A |
c.3053G>A |
p.G1018D |
Missense |
35/53 |
- |
2 |
X-107868973-C-G |
c.3055C>G |
p.L1019V |
Missense |
35/53 |
- |
2 |
X-107868973-C-T |
c.3055C>T |
p.L1019F |
Missense |
35/53 |
- |
1 |
X-107868974-T-C |
c.3056T>C |
p.L1019P |
Missense |
35/53 |
- |
5 |
X-107868973-CT-C |
c.3057del |
p.I1020* |
Frameshift |
35/53 |
- |
1 |
X-107868975-T-C |
c.3057T>C |
p.L1019= |
Synonymous |
35/53 |
- |
1 |
X-107868975-T-TTAA |
c.3057_3058insTAA |
p.L1019_I1020ins* |
InFrameInsertion |
35/53 |
- |
1 |
X-107868976-A-G |
c.3058A>G |
p.I1020V |
Missense |
35/53 |
- |
2 |
X-107868980-G-A |
c.3062G>A |
p.G1021E |
Missense |
35/53 |
- |
3 |
X-107868981-A-C |
c.3063A>C |
p.G1021= |
Synonymous |
35/53 |
- |
1 |
X-107868981-A-G |
c.3063A>G |
p.G1021= |
Synonymous |
35/53 |
- |
1 |
X-107868981-A-T |
c.3063A>T |
p.G1021= |
Synonymous |
35/53 |
- |
1 |
X-107868983-C-A |
c.3065C>A |
p.P1022H |
Missense |
35/53 |
- |
1 |
X-107868985-C-A |
c.3067C>A |
p.P1023T |
Missense |
35/53 |
- |
2 |
X-107868985-C-T |
c.3067C>T |
p.P1023S |
Missense |
35/53 |
- |
2 |
X-107868987-T-A |
c.3069T>A |
p.P1023= |
Synonymous |
35/53 |
- |
1 |
X-107868987-T-C |
c.3069T>C |
p.P1023= |
Synonymous |
35/53 |
- |
2 |
X-107868987-T-G |
c.3069T>G |
p.P1023= |
Synonymous |
35/53 |
- |
2 |
X-107868988-G-A |
c.3070G>A |
p.G1024R |
Missense |
35/53 |
- |
1 |
X-107868989-G-A |
c.3071G>A |
p.G1024E |
Missense |
35/53 |
- |
5 |
X-107868992-T-G |
c.3074T>G |
p.L1025R |
Missense |
35/53 |
- |
2 |
X-107868995-A-C |
c.3077A>C |
p.K1026T |
Missense |
35/53 |
- |
1 |
X-107868997-G-A |
c.3079G>A |
p.G1027R |
Missense |
35/53 |
- |
1 |
X-107868998-G-A |
c.3080G>A |
p.G1027E |
Missense |
35/53 |
- |
3 |
X-107868998-G-T |
c.3080G>T |
p.G1027V |
Missense |
35/53 |
- |
5 |
X-107869000-A-G |
c.3082A>G |
p.T1028A |
Missense |
35/53 |
- |
1 |
X-107869001-C-A |
c.3083C>A |
p.T1028N |
Missense |
35/53 |
- |
1 |
X-107869001-C-T |
c.3083C>T |
p.T1028I |
Missense |
35/53 |
- |
1 |
X-107869005-C-T |
c.3087C>T |
p.I1029= |
Synonymous |
35/53 |
- |
3 |
X-107869006-G-A |
c.3088G>A |
p.G1030S |
Missense |
35/53 |
- |
10 |
X-107869007-G-T |
c.3089G>T |
p.G1030V |
Missense |
35/53 |
- |
1 |
X-107869008-T-A |
c.3090T>A |
p.G1030= |
Synonymous |
35/53 |
- |
1 |
X-107869008-T-C |
c.3090T>C |
p.G1030= |
Synonymous |
35/53 |
- |
1 |
X-107869008-T-G |
c.3090T>G |
p.G1030= |
Synonymous |
35/53 |
- |
1 |
X-107869009-G-A |
c.3091G>A |
p.D1031N |
Missense |
35/53 |
- |
4 |
X-107869010-A-G |
c.3092A>G |
p.D1031G |
Missense |
35/53 |
- |
2 |
X-107869009-GAT-G |
c.3094_3095del |
p.M1032Gfs*35 |
Frameshift |
35/53 |
- |
1 |
X-107869012-A-G |
c.3094A>G |
p.M1032V |
Missense |
35/53 |
- |
2 |
X-107869013-T-C |
c.3095T>C |
p.M1032T |
Missense |
35/53 |
- |
2 |
X-107869014-G-A |
c.3096G>A |
p.M1032I |
Missense |
35/53 |
- |
1 |
X-107869015-G-A |
c.3097G>A |
p.G1033S |
Missense |
35/53 |
- |
2 |
X-107869015-G-C |
c.3097G>C |
p.G1033R |
Missense |
35/53 |
- |
3 |
X-107869016-G-T |
c.3098G>T |
p.G1033V |
Missense |
35/53 |
- |
1 |
X-107869018-T-G |
c.3100T>G |
p.F1034V |
Missense |
35/53 |
- |
1 |
X-107869021-C-A |
c.3103C>A |
p.P1035T |
Missense |
35/53 |
- |
1 |
X-107869022-C-G |
c.3104C>G |
p.P1035R |
Missense |
35/53 |
- |
1 |
X-107869024-G-A |
c.3106G>A |
p.G1036R |
Missense |
35/53 |
- |
2 |
X-107869025-G-A |
c.3106+1G>A |
- |
IntronicSNV |
- |
35/52 |
1 |
X-107869025-G-T |
c.3106+1G>T |
- |
IntronicSNV |
- |
35/52 |
1 |
X-107869340-G-A |
c.3107-100G>A |
- |
IntronicSNV |
- |
35/52 |
1 |
X-107869343-G-C |
c.3107-97G>C |
- |
IntronicSNV |
- |
35/52 |
2 |
X-107869429-A-T |
c.3107-11A>T |
- |
IntronicSNV |
- |
35/52 |
1 |
X-107869440-G-T |
c.3107G>T |
p.G1036V |
Missense |
36/53 |
- |
3 |
X-107869441-G-A |
c.3108G>A |
p.G1036= |
Synonymous |
36/53 |
- |
2 |
X-107869442-C-T |
c.3109C>T |
p.P1037S |
Missense |
36/53 |
- |
1 |
X-107869445-C-A |
c.3112C>A |
p.Q1038K |
Missense |
36/53 |
- |
1 |
X-107869446-A-G |
c.3113A>G |
p.Q1038R |
Missense |
36/53 |
- |
1 |
X-107869448-G-A |
c.3115G>A |
p.G1039S |
Missense |
36/53 |
- |
4 |
X-107869449-G-A |
c.3116G>A |
p.G1039D |
Missense |
36/53 |
- |
1 |
X-107869450-T-A |
c.3117T>A |
p.G1039= |
Synonymous |
36/53 |
- |
1 |
X-107869450-T-C |
c.3117T>C |
p.G1039= |
Synonymous |
36/53 |
- |
1 |
X-107869450-T-G |
c.3117T>G |
p.G1039= |
Synonymous |
36/53 |
- |
1 |
X-107869451-G-A |
c.3118G>A |
p.V1040M |
Missense |
36/53 |
- |
1 |
X-107869454-G-A |
c.3121G>A |
p.E1041K |
Missense |
36/53 |
- |
4 |
X-107869457-G-GC |
c.3124_3125insC |
p.G1042Afs*26 |
Frameshift |
36/53 |
- |
1 |
X-107869458-G-T |
c.3125G>T |
p.G1042V |
Missense |
36/53 |
- |
1 |
X-107869459-G-A |
c.3126G>A |
p.G1042= |
Synonymous |
36/53 |
- |
1 |
X-107869467-G-A |
c.3134G>A |
p.G1045E |
Missense |
36/53 |
- |
5 |
X-107869469-C-T |
c.3136C>T |
p.P1046S |
Missense |
36/53 |
- |
1 |
X-107869473-C-T |
c.3140C>T |
p.S1047F |
Missense |
36/53 |
- |
1 |
X-107869476-G-A |
c.3143G>A |
p.G1048E |
Missense |
36/53 |
- |
2 |
X-107869481-C-G |
c.3148C>G |
p.P1050A |
Missense |
36/53 |
- |
1 |
X-107869481-C-T |
c.3148C>T |
p.P1050S |
Missense |
36/53 |
- |
2 |
X-107869485-G-A |
c.3152G>A |
p.G1051E |
Missense |
36/53 |
- |
1 |
X-107869485-G-C |
c.3152G>C |
p.G1051A |
Missense |
36/53 |
- |
1 |
X-107869487-C-T |
c.3154C>T |
p.Q1052* |
Nonsense |
36/53 |
- |
3 |
X-107869488-A-C |
c.3155A>C |
p.Q1052P |
Missense |
36/53 |
- |
1 |
X-107869489-A-C |
c.3156A>C |
p.Q1052H |
Missense |
36/53 |
- |
5 |
X-107869489-A-T |
c.3156A>T |
p.Q1052H |
Missense |
36/53 |
- |
1 |
X-107869490-C-T |
c.3157C>T |
p.P1053S |
Missense |
36/53 |
- |
1 |
X-107869493-G-A |
c.3160G>A |
p.G1054S |
Missense |
36/53 |
- |
1 |
X-107869494-G-A |
c.3161G>A |
p.G1054D |
Missense |
36/53 |
- |
1 |
X-107869497-C-T |
c.3164C>T |
p.S1055F |
Missense |
36/53 |
- |
2 |
X-107869498-C-G |
c.3165C>G |
p.S1055= |
Synonymous |
36/53 |
- |
1 |
X-107869498-C-T |
c.3165C>T |
p.S1055= |
Synonymous |
36/53 |
- |
1 |
X-107869499-C-G |
c.3166C>G |
p.P1056A |
Missense |
36/53 |
- |
1 |
X-107869499-C-T |
c.3166C>T |
p.P1056S |
Missense |
36/53 |
- |
1 |
X-107869496-TC-T |
c.3167del |
p.P1056Qfs*96 |
Frameshift |
36/53 |
- |
1 |
X-107869502-G-A |
c.3169G>A |
p.G1057R |
Missense |
36/53 |
- |
4 |
X-107869502-G-C |
c.3169G>C |
p.G1057R |
Missense |
36/53 |
- |
2 |
X-107869502-G-T |
c.3169G>T |
p.G1057* |
Nonsense |
36/53 |
- |
2 |
X-107869503-G-A |
c.3170G>A |
p.G1057E |
Missense |
36/53 |
- |
2 |
X-107869503-G-T |
c.3170G>T |
p.G1057V |
Missense |
36/53 |
- |
1 |
X-107869505-T-A |
c.3172T>A |
p.L1058I |
Missense |
36/53 |
- |
1 |
X-107869505-T-G |
c.3172T>G |
p.L1058V |
Missense |
36/53 |
- |
1 |
X-107869507-A-G |
c.3174A>G |
p.L1058= |
Synonymous |
36/53 |
- |
1 |
X-107869509-C-T |
c.3176C>T |
p.P1059L |
Missense |
36/53 |
- |
1 |
X-107869510-CT-C |
c.3177del |
p.G1060Dfs*92 |
Frameshift |
36/53 |
- |
1 |
X-107869511-G-T |
c.3178G>T |
p.G1060* |
Nonsense |
36/53 |
- |
3 |
X-107869512-G-A |
c.3179G>A |
p.G1060E |
Missense |
36/53 |
- |
2 |
X-107869514-C-T |
c.3181C>T |
p.Q1061* |
Nonsense |
36/53 |
- |
2 |
X-107869518-A-C |
c.3185A>C |
p.K1062T |
Missense |
36/53 |
- |
1 |
X-107869518-A-T |
c.3185A>T |
p.K1062I |
Missense |
36/53 |
- |
3 |
X-107869521-G-A |
c.3188G>A |
p.G1063D |
Missense |
36/53 |
- |
2 |
X-107869521-G-T |
c.3188G>T |
p.G1063V |
Missense |
36/53 |
- |
3 |
X-107869522-C-G |
c.3189C>G |
p.G1063= |
Synonymous |
36/53 |
- |
1 |
X-107869522-C-T |
c.3189C>T |
p.G1063= |
Synonymous |
36/53 |
- |
1 |
X-107869523-G-A |
c.3190G>A |
p.D1064N |
Missense |
36/53 |
- |
4 |
X-107869529-G-A |
c.3196G>A |
p.G1066S |
Missense |
36/53 |
- |
6 |
X-107869529-G-C |
c.3196G>C |
p.G1066R |
Missense |
36/53 |
- |
4 |
X-107869529-G-T |
c.3196G>T |
p.G1066C |
Missense |
36/53 |
- |
1 |
X-107869530-G-A |
c.3197G>A |
p.G1066D |
Missense |
36/53 |
- |
4 |
X-107869530-G-C |
c.3197G>C |
p.G1066A |
Missense |
36/53 |
- |
4 |
X-107869530-G-T |
c.3197G>T |
p.G1066V |
Missense |
36/53 |
- |
2 |
X-107869535-C-A |
c.3202C>A |
p.P1068T |
Missense |
36/53 |
- |
1 |
X-107869534-TC-T |
c.3203del |
p.P1068Lfs*84 |
Frameshift |
36/53 |
- |
1 |
X-107869536-C-G |
c.3203C>G |
p.P1068R |
Missense |
36/53 |
- |
1 |
X-107869538-G-A |
c.3205G>A |
p.G1069S |
Missense |
36/53 |
- |
1 |
X-107869538-G-T |
c.3205G>T |
p.G1069C |
Missense |
36/53 |
- |
1 |
X-107869539-G-A |
c.3206G>A |
p.G1069D |
Missense |
36/53 |
- |
2 |
X-107869539-G-T |
c.3206G>T |
p.G1069V |
Missense |
36/53 |
- |
4 |
X-107869541-A-G |
c.3208A>G |
p.I1070V |
Missense |
36/53 |
- |
1 |
X-107869542-T-G |
c.3209T>G |
p.I1070S |
Missense |
36/53 |
- |
3 |
X-107869545-C-A |
c.3212C>A |
p.S1071* |
Nonsense |
36/53 |
- |
2 |
X-107869545-C-G |
c.3212C>G |
p.S1071* |
Nonsense |
36/53 |
- |
3 |
X-107869546-A-G |
c.3213A>G |
p.S1071= |
Synonymous |
36/53 |
- |
1 |
X-107869547-A-G |
c.3214A>G |
p.S1072G |
Missense |
36/53 |
- |
2 |
X-107869550-A-G |
c.3217A>G |
p.I1073V |
Missense |
36/53 |
- |
1 |
X-107869551-T-C |
c.3218T>C |
p.I1073T |
Missense |
36/53 |
- |
3 |
X-107869553-G-A |
c.3220G>A |
p.G1074S |
Missense |
36/53 |
- |
2 |
X-107869553-G-C |
c.3220G>C |
p.G1074R |
Missense |
36/53 |
- |
2 |
X-107869554-G-C |
c.3221G>C |
p.G1074A |
Missense |
36/53 |
- |
1 |
X-107869556-C-T |
c.3223C>T |
p.L1075F |
Missense |
36/53 |
- |
3 |
X-107869557-T-G |
c.3224T>G |
p.L1075R |
Missense |
36/53 |
- |
1 |
X-107869559-C-T |
c.3226C>T |
p.P1076S |
Missense |
36/53 |
- |
1 |
X-107869558-TC-T |
c.3227del |
p.P1076Qfs*76 |
Frameshift |
36/53 |
- |
1 |
X-107869560-C-T |
c.3227C>T |
p.P1076L |
Missense |
36/53 |
- |
1 |
X-107869561-A-C |
c.3228A>C |
p.P1076= |
Synonymous |
36/53 |
- |
1 |
X-107869561-A-G |
c.3228A>G |
p.P1076= |
Synonymous |
36/53 |
- |
1 |
X-107869561-A-T |
c.3228A>T |
p.P1076= |
Synonymous |
36/53 |
- |
1 |
X-107869565-C-T |
c.3232C>T |
p.L1078F |
Missense |
36/53 |
- |
1 |
X-107869567-T-A |
c.3234T>A |
p.L1078= |
Synonymous |
36/53 |
- |
1 |
X-107869569-C-T |
c.3236C>T |
p.P1079L |
Missense |
36/53 |
- |
1 |
X-107869571-G-C |
c.3238G>C |
p.G1080R |
Missense |
36/53 |
- |
2 |
X-107869572-G-A |
c.3239G>A |
p.G1080D |
Missense |
36/53 |
- |
1 |
X-107869580-G-A |
c.3246+1G>A |
- |
IntronicSNV |
- |
36/52 |
1 |
X-107869585-C-T |
c.3246+6C>T |
- |
IntronicSNV |
- |
36/52 |
1 |
X-107869624-G-A |
c.3246+45G>A |
- |
IntronicSNV |
- |
36/52 |
1 |
X-107869646-A-G |
c.3246+67A>G |
- |
IntronicSNV |
- |
36/52 |
1 |
X-107869655-T-C |
c.3246+76T>C |
- |
IntronicSNV |
- |
36/52 |
1 |
X-107869702-G-C |
c.3246+123G>C |
- |
IntronicSNV |
- |
36/52 |
1 |
X-107870068-C-G |
c.3246+489C>G |
- |
IntronicSNV |
- |
36/52 |
1 |
X-107878721-CT-C |
c.3246+9147del |
- |
IntronicDeletion |
- |
36/52 |
1 |
X-107880770-A-C |
c.3246+11191A>C |
- |
IntronicSNV |
- |
36/52 |
1 |
X-107889734-C-T |
c.3247-8827C>T |
- |
IntronicSNV |
- |
36/52 |
1 |
X-107898561-G-A |
c.3247G>A |
p.G1083S |
Missense |
37/53 |
- |
2 |
X-107898561-G-T |
c.3247G>T |
p.G1083C |
Missense |
37/53 |
- |
3 |
X-107898562-G-A |
c.3248G>A |
p.G1083D |
Missense |
37/53 |
- |
1 |
X-107898565-A-C |
c.3251A>C |
p.E1084A |
Missense |
37/53 |
- |
2 |
X-107898565-A-T |
c.3251A>T |
p.E1084V |
Missense |
37/53 |
- |
1 |
X-107898567-C-T |
c.3253C>T |
p.P1085S |
Missense |
37/53 |
- |
2 |
X-107898570-G-C |
c.3256G>C |
p.G1086R |
Missense |
37/53 |
- |
3 |
X-107898571-G-A |
c.3257G>A |
p.G1086D |
Missense |
37/53 |
- |
5 |
X-107898571-G-T |
c.3257G>T |
p.G1086V |
Missense |
37/53 |
- |
2 |
X-107898574-T-C |
c.3260T>C |
p.L1087P |
Missense |
37/53 |
- |
1 |
X-107898580-G-A |
c.3266G>A |
p.G1089E |
Missense |
37/53 |
- |
2 |
X-107898582-T-C |
c.3268T>C |
p.Y1090H |
Missense |
37/53 |
- |
2 |
X-107898584-C-A |
c.3270C>A |
p.Y1090* |
Nonsense |
37/53 |
- |
1 |
X-107898586-C-G |
c.3272C>G |
p.P1091R |
Missense |
37/53 |
- |
1 |
X-107898589-G-A |
c.3275G>A |
p.G1092E |
Missense |
37/53 |
- |
1 |
X-107898587-AG-A |
c.3276del |
p.N1093Tfs*59 |
Frameshift |
37/53 |
- |
1 |
X-107898590-G-T |
c.3276G>T |
p.G1092= |
Synonymous |
37/53 |
- |
1 |
X-107898592-A-C |
c.3278A>C |
p.N1093T |
Missense |
37/53 |
- |
1 |
X-107898593-C-T |
c.3279C>T |
p.N1093= |
Synonymous |
37/53 |
- |
2 |
X-107898594-C-A |
c.3280C>A |
p.P1094T |
Missense |
37/53 |
- |
2 |
X-107898594-C-T |
c.3280C>T |
p.P1094S |
Missense |
37/53 |
- |
6 |
X-107898597-G-A |
c.3283G>A |
p.G1095S |
Missense |
37/53 |
- |
1 |
X-107898597-G-T |
c.3283G>T |
p.G1095C |
Missense |
37/53 |
- |
3 |
X-107898598-G-A |
c.3284G>A |
p.G1095D |
Missense |
37/53 |
- |
2 |
X-107898601-T-C |
c.3287T>C |
p.I1096T |
Missense |
37/53 |
- |
1 |
X-107898603-A-T |
c.3289A>T |
p.K1097* |
Nonsense |
37/53 |
- |
3 |
X-107898604-A-C |
c.3290A>C |
p.K1097T |
Missense |
37/53 |
- |
1 |
X-107898606-G-A |
c.3292G>A |
p.G1098S |
Missense |
37/53 |
- |
5 |
X-107898605-AG-A |
c.3293del |
p.G1098Vfs*54 |
Frameshift |
37/53 |
- |
1 |
X-107898607-G-A |
c.3293G>A |
p.G1098D |
Missense |
37/53 |
- |
2 |
X-107898608-T-C |
c.3294T>C |
p.G1098= |
Synonymous |
37/53 |
- |
1 |
X-107898607-GT-G |
c.3295del |
p.S1099Lfs*53 |
Frameshift |
37/53 |
- |
1 |
X-107898610-C-T |
c.3296C>T |
p.S1099F |
Missense |
37/53 |
- |
5 |
X-107898611-T-A |
c.3297T>A |
p.S1099= |
Synonymous |
37/53 |
- |
1 |
X-107898611-T-C |
c.3297T>C |
p.S1099= |
Synonymous |
37/53 |
- |
1 |
X-107898611-T-G |
c.3297T>G |
p.S1099= |
Synonymous |
37/53 |
- |
1 |
X-107898616-G-A |
c.3302G>A |
p.G1101E |
Missense |
37/53 |
- |
4 |
X-107898618-AG-A |
c.3304del |
p.D1102Ifs*50 |
Frameshift |
37/53 |
- |
1 |
X-107898619-ATCCTGGTT-A |
c.3307_3314del |
p.P1103Afs*31 |
Frameshift |
37/53 |
- |
1 |
X-107898621-C-T |
c.3307C>T |
p.P1103S |
Missense |
37/53 |
- |
6 |
X-107898624-G-T |
c.3310G>T |
p.G1104C |
Missense |
37/53 |
- |
3 |
X-107898625-G-T |
c.3311G>T |
p.G1104V |
Missense |
37/53 |
- |
3 |
X-107898628-T-A |
c.3314T>A |
p.L1105* |
Nonsense |
37/53 |
- |
1 |
X-107898631-C-G |
c.3317C>G |
p.P1106R |
Missense |
37/53 |
- |
1 |
X-107898633-G-A |
c.3319G>A |
p.G1107R |
Missense |
37/53 |
- |
12 |
X-107898633-G-C |
c.3319G>C |
p.G1107R |
Missense |
37/53 |
- |
7 |
X-107898633-G-T |
c.3319G>T |
p.G1107* |
Nonsense |
37/53 |
- |
1 |
X-107898634-G-A |
c.3320G>A |
p.G1107E |
Missense |
37/53 |
- |
1 |
X-107898639-C-A |
c.3325C>A |
p.P1109T |
Missense |
37/53 |
- |
1 |
X-107898640-C-CT |
c.3326_3327insT |
p.G1110Rfs*27 |
Frameshift |
37/53 |
- |
1 |
X-107898637-T-TACCAGCAA |
c.3328_3329insCAAACCAG |
p.G1110Afs*45 |
Frameshift |
37/53 |
- |
1 |
X-107898641-AG-A |
c.3329del |
p.G1110Efs*42 |
Frameshift |
37/53 |
- |
1 |
X-107898643-GA-G |
c.3331del |
p.T1111Pfs*41 |
Frameshift |
37/53 |
- |
1 |
X-107898649-C-A |
c.3335C>A |
p.P1112H |
Missense |
37/53 |
- |
1 |
X-107898654-G-A |
c.3340G>A |
p.A1114T |
Missense |
37/53 |
- |
1 |
X-107898661-G-C |
c.3347G>C |
p.G1116A |
Missense |
37/53 |
- |
1 |
X-107898661-G-T |
c.3347G>T |
p.G1116V |
Missense |
37/53 |
- |
3 |
X-107898666-C-T |
c.3352C>T |
p.P1118S |
Missense |
37/53 |
- |
2 |
X-107898669-G-A |
c.3355G>A |
p.G1119S |
Missense |
37/53 |
- |
1 |
X-107898670-G-C |
c.3356G>C |
p.G1119A |
Missense |
37/53 |
- |
2 |
X-107898672-C-A |
c.3358C>A |
p.L1120I |
Missense |
37/53 |
- |
1 |
X-107898672-C-T |
c.3358C>T |
p.L1120F |
Missense |
37/53 |
- |
5 |
X-107898675-C-T |
c.3361C>T |
p.P1121S |
Missense |
37/53 |
- |
2 |
X-107898676-C-G |
c.3362C>G |
p.P1121R |
Missense |
37/53 |
- |
1 |
X-107898678-G-A |
c.3364G>A |
p.G1122R |
Missense |
37/53 |
- |
1 |
X-107898679-G-A |
c.3365G>A |
p.G1122E |
Missense |
37/53 |
- |
2 |
X-107898683-C-T |
c.3369C>T |
p.F1123= |
Synonymous |
37/53 |
- |
1 |
X-107898684-C-T |
c.3370C>T |
p.P1124S |
Missense |
37/53 |
- |
1 |
X-107898687-G-A |
c.3373G>A |
p.G1125R |
Missense |
37/53 |
- |
2 |
X-107898688-G-A |
c.3373+1G>A |
- |
IntronicSNV |
- |
37/52 |
1 |
X-107900470-AT-A |
c.3373+1793del |
- |
IntronicDeletion |
- |
37/52 |
1 |
X-107906170-C-T |
c.3374-2567C>T |
- |
IntronicSNV |
- |
37/52 |
1 |
X-107908737-G-A |
c.3374G>A |
p.G1125E |
Missense |
38/53 |
- |
1 |
X-107908739-A-G |
c.3376A>G |
p.T1126A |
Missense |
38/53 |
- |
1 |
X-107908740-C-T |
c.3377C>T |
p.T1126I |
Missense |
38/53 |
- |
1 |
X-107908741-CCCAGGCCCT-C |
c.3381_3389del |
p.P1130_P1132del |
InFrameDeletion |
38/53 |
- |
1 |
X-107908745-G-A |
c.3382G>A |
p.G1128S |
Missense |
38/53 |
- |
1 |
X-107908746-G-A |
c.3383G>A |
p.G1128D |
Missense |
38/53 |
- |
3 |
X-107908749-C-T |
c.3386C>T |
p.P1129L |
Missense |
38/53 |
- |
2 |
X-107908755-G-A |
c.3392G>A |
p.G1131E |
Missense |
38/53 |
- |
1 |
X-107908757-C-T |
c.3394C>T |
p.P1132S |
Missense |
38/53 |
- |
1 |
X-107908763-G-T |
c.3400G>T |
p.G1134C |
Missense |
38/53 |
- |
1 |
X-107908764-G-C |
c.3401G>C |
p.G1134A |
Missense |
38/53 |
- |
1 |
X-107908764-G-T |
c.3401G>T |
p.G1134V |
Missense |
38/53 |
- |
1 |
X-107908766-A-G |
c.3403A>G |
p.I1135V |
Missense |
38/53 |
- |
2 |
X-107908766-TATTAGTGGCCCTCCTG-T |
c.3403_3418del |
p.I1135Gfs*12 |
Frameshift |
38/53 |
- |
1 |
X-107908772-G-T |
c.3409G>T |
p.G1137C |
Missense |
38/53 |
- |
1 |
X-107908773-G-A |
c.3410G>A |
p.G1137D |
Missense |
38/53 |
- |
3 |
X-107908773-G-T |
c.3410G>T |
p.G1137V |
Missense |
38/53 |
- |
1 |
X-107908773-GC-G |
c.3413del |
p.P1138Lfs*14 |
Frameshift |
38/53 |
- |
1 |
X-107908781-G-C |
c.3418G>C |
p.G1140R |
Missense |
38/53 |
- |
2 |
X-107908781-G-T |
c.3418G>T |
p.G1140W |
Missense |
38/53 |
- |
1 |
X-107908782-G-T |
c.3419G>T |
p.G1140V |
Missense |
38/53 |
- |
3 |
X-107908783-G-A |
c.3420G>A |
p.G1140= |
Synonymous |
38/53 |
- |
3 |
X-107908785-A-C |
c.3422A>C |
p.N1141T |
Missense |
38/53 |
- |
2 |
X-107908790-G-A |
c.3427G>A |
p.G1143S |
Missense |
38/53 |
- |
8 |
X-107908790-G-T |
c.3427G>T |
p.G1143C |
Missense |
38/53 |
- |
2 |
X-107908791-G-A |
c.3428G>A |
p.G1143D |
Missense |
38/53 |
- |
5 |
X-107908791-G-T |
c.3428G>T |
p.G1143V |
Missense |
38/53 |
- |
1 |
X-107908793-C-T |
c.3430C>T |
p.L1144F |
Missense |
38/53 |
- |
1 |
X-107908796-C-T |
c.3433C>T |
p.P1145S |
Missense |
38/53 |
- |
1 |
X-107908800-G-A |
c.3437G>A |
p.G1146E |
Missense |
38/53 |
- |
2 |
X-107908809-G-T |
c.3446G>T |
p.G1149V |
Missense |
38/53 |
- |
3 |
X-107908811-C-G |
c.3448C>G |
p.P1150A |
Missense |
38/53 |
- |
1 |
X-107908813-T-TAC |
c.3450_3451insAC |
p.V1151Tfs*2 |
Frameshift |
38/53 |
- |
1 |
X-107908814-G-A |
c.3451G>A |
p.V1151I |
Missense |
38/53 |
- |
1 |
X-107908815-T-C |
c.3452T>C |
p.V1151A |
Missense |
38/53 |
- |
1 |
X-107908818-G-T |
c.3454+1G>T |
- |
IntronicSNV |
- |
38/52 |
1 |
X-107909726-G-A |
c.3455G>A |
p.G1152D |
Missense |
39/53 |
- |
2 |
X-107909728-G-C |
c.3457G>C |
p.G1153R |
Missense |
39/53 |
- |
2 |
X-107909729-G-T |
c.3458G>T |
p.G1153V |
Missense |
39/53 |
- |
2 |
X-107909732-G-A |
c.3461G>A |
p.G1154E |
Missense |
39/53 |
- |
2 |
X-107909733-A-G |
c.3462A>G |
p.G1154= |
Synonymous |
39/53 |
- |
1 |
X-107909734-G-A |
c.3463G>A |
p.G1155S |
Missense |
39/53 |
- |
2 |
X-107909740-C-T |
c.3469C>T |
p.P1157S |
Missense |
39/53 |
- |
1 |
X-107909743-G-A |
c.3472G>A |
p.G1158R |
Missense |
39/53 |
- |
3 |
X-107909743-G-C |
c.3472G>C |
p.G1158R |
Missense |
39/53 |
- |
1 |
X-107909743-G-T |
c.3472G>T |
p.G1158W |
Missense |
39/53 |
- |
2 |
X-107909744-G-A |
c.3473G>A |
p.G1158E |
Missense |
39/53 |
- |
2 |
X-107909742-TG-T |
c.3474del |
p.Q1159Nfs*146 |
Frameshift |
39/53 |
- |
1 |
X-107909745-G-A |
c.3474G>A |
p.G1158= |
Synonymous |
39/53 |
- |
2 |
X-107909745-G-C |
c.3474G>C |
p.G1158= |
Synonymous |
39/53 |
- |
1 |
X-107909745-G-T |
c.3474G>T |
p.G1158= |
Synonymous |
39/53 |
- |
1 |
X-107909746-C-T |
c.3475C>T |
p.Q1159* |
Nonsense |
39/53 |
- |
1 |
X-107909750-C-G |
c.3479C>G |
p.P1160R |
Missense |
39/53 |
- |
1 |
X-107909752-G-A |
c.3481G>A |
p.G1161R |
Missense |
39/53 |
- |
4 |
X-107909752-G-C |
c.3481G>C |
p.G1161R |
Missense |
39/53 |
- |
4 |
X-107909753-G-A |
c.3482G>A |
p.G1161E |
Missense |
39/53 |
- |
4 |
X-107909753-G-T |
c.3482G>T |
p.G1161V |
Missense |
39/53 |
- |
1 |
X-107909758-C-T |
c.3487C>T |
p.P1163S |
Missense |
39/53 |
- |
1 |
X-107909759-C-G |
c.3488C>G |
p.P1163R |
Missense |
39/53 |
- |
1 |
X-107909759-C-T |
c.3488C>T |
p.P1163L |
Missense |
39/53 |
- |
1 |
X-107909761-G-T |
c.3490G>T |
p.G1164C |
Missense |
39/53 |
- |
3 |
X-107909762-G-A |
c.3491G>A |
p.G1164D |
Missense |
39/53 |
- |
1 |
X-107909762-G-C |
c.3491G>C |
p.G1164A |
Missense |
39/53 |
- |
1 |
X-107909764-G-A |
c.3493G>A |
p.E1165K |
Missense |
39/53 |
- |
11 |
X-107909767-A-G |
c.3496A>G |
p.K1166E |
Missense |
39/53 |
- |
1 |
X-107909768-A-T |
c.3497A>T |
p.K1166I |
Missense |
39/53 |
- |
2 |
X-107909770-G-A |
c.3499G>A |
p.G1167S |
Missense |
39/53 |
- |
5 |
X-107909770-G-C |
c.3499G>C |
p.G1167R |
Missense |
39/53 |
- |
1 |
X-107909774-A-T |
c.3503A>T |
p.K1168I |
Missense |
39/53 |
- |
1 |
X-107909775-A-G |
c.3504A>G |
p.K1168= |
Synonymous |
39/53 |
- |
2 |
X-107909776-C-T |
c.3505C>T |
p.P1169S |
Missense |
39/53 |
- |
1 |
X-107909777-C-A |
c.3506C>A |
p.P1169H |
Missense |
39/53 |
- |
1 |
X-107909779-G-A |
c.3508G>A |
p.G1170S |
Missense |
39/53 |
- |
11 |
X-107909779-G-C |
c.3508G>C |
p.G1170R |
Missense |
39/53 |
- |
1 |
X-107909778-CG-C |
c.3509del |
p.G1170Vfs*135 |
Frameshift |
39/53 |
- |
1 |
X-107909780-G-A |
c.3509G>A |
p.G1170D |
Missense |
39/53 |
- |
2 |
X-107909780-G-T |
c.3509G>T |
p.G1170V |
Missense |
39/53 |
- |
2 |
X-107909782-C-A |
c.3511C>A |
p.Q1171K |
Missense |
39/53 |
- |
1 |
X-107909784-A-G |
c.3513A>G |
p.Q1171= |
Synonymous |
39/53 |
- |
8 |
X-107909786-A-T |
c.3515A>T |
p.D1172V |
Missense |
39/53 |
- |
2 |
X-107909788-G-C |
c.3517G>C |
p.G1173R |
Missense |
39/53 |
- |
1 |
X-107909788-G-T |
c.3517G>T |
p.G1173C |
Missense |
39/53 |
- |
1 |
X-107909789-GT-AG |
c.3518_3519delinsAG |
p.G1173E |
Missense |
39/53 |
- |
1 |
X-107909794-C-T |
c.3523C>T |
p.P1175S |
Missense |
39/53 |
- |
6 |
X-107909795-C-G |
c.3524C>G |
p.P1175R |
Missense |
39/53 |
- |
1 |
X-107909796-T-A |
c.3525T>A |
p.P1175= |
Synonymous |
39/53 |
- |
1 |
X-107909796-T-C |
c.3525T>C |
p.P1175= |
Synonymous |
39/53 |
- |
1 |
X-107909796-T-G |
c.3525T>G |
p.P1175= |
Synonymous |
39/53 |
- |
1 |
X-107909797-G-A |
c.3526G>A |
p.G1176R |
Missense |
39/53 |
- |
2 |
X-107909796-TG-T |
c.3527del |
p.G1176Dfs*129 |
Frameshift |
39/53 |
- |
1 |
X-107909798-G-A |
c.3527G>A |
p.G1176E |
Missense |
39/53 |
- |
1 |
X-107909800-C-T |
c.3529C>T |
p.P1177S |
Missense |
39/53 |
- |
3 |
X-107909801-C-A |
c.3530C>A |
p.P1177Q |
Missense |
39/53 |
- |
2 |
X-107909806-G-A |
c.3535G>A |
p.G1179R |
Missense |
39/53 |
- |
4 |
X-107909806-G-C |
c.3535G>C |
p.G1179R |
Missense |
39/53 |
- |
1 |
X-107909806-G-T |
c.3535G>T |
p.G1179* |
Nonsense |
39/53 |
- |
1 |
X-107909809-C-T |
c.3538C>T |
p.Q1180* |
Nonsense |
39/53 |
- |
2 |
X-107909810-A-ACCGT |
c.3539_3540insCCGT |
p.Q1180Hfs*5 |
Frameshift |
39/53 |
- |
1 |
X-107909810-AGAAGGGT-A |
c.3543_3549del |
p.K1181Nfs*122 |
Frameshift |
39/53 |
- |
1 |
X-107909814-G-C |
c.3543G>C |
p.K1181N |
Missense |
39/53 |
- |
2 |
X-107909815-G-C |
c.3544G>C |
p.G1182R |
Missense |
39/53 |
- |
3 |
X-107909816-G-T |
c.3545G>T |
p.G1182V |
Missense |
39/53 |
- |
2 |
X-107909817-T-A |
c.3546T>A |
p.G1182= |
Synonymous |
39/53 |
- |
1 |
X-107909817-T-C |
c.3546T>C |
p.G1182= |
Synonymous |
39/53 |
- |
1 |
X-107909817-T-G |
c.3546T>G |
p.G1182= |
Synonymous |
39/53 |
- |
1 |
X-107909818-G-A |
c.3547G>A |
p.E1183K |
Missense |
39/53 |
- |
2 |
X-107909821-C-A |
c.3550C>A |
p.P1184T |
Missense |
39/53 |
- |
2 |
X-107909821-C-T |
c.3550C>T |
p.P1184S |
Missense |
39/53 |
- |
2 |
X-107909822-C-T |
c.3551C>T |
p.P1184L |
Missense |
39/53 |
- |
5 |
X-107909823-A-C |
c.3552A>C |
p.P1184= |
Synonymous |
39/53 |
- |
1 |
X-107909823-A-G |
c.3552A>G |
p.P1184= |
Synonymous |
39/53 |
- |
1 |
X-107909823-A-T |
c.3552A>T |
p.P1184= |
Synonymous |
39/53 |
- |
1 |
X-107909824-G-A |
c.3553G>A |
p.G1185S |
Missense |
39/53 |
- |
1 |
X-107909866-T-C |
c.3553+42T>C |
- |
IntronicSNV |
- |
39/52 |
3 |
X-107910363-G-A |
c.3554G>A |
p.G1185D |
Missense |
40/53 |
- |
1 |
X-107910363-G-C |
c.3554G>C |
p.G1185A |
Missense |
40/53 |
- |
1 |
X-107910364-T-C |
c.3555T>C |
p.G1185= |
Synonymous |
40/53 |
- |
1 |
X-107910369-C-A |
c.3560C>A |
p.P1187Q |
Missense |
40/53 |
- |
1 |
X-107910371-G-C |
c.3562G>C |
p.G1188R |
Missense |
40/53 |
- |
1 |
X-107910372-G-A |
c.3563G>A |
p.G1188D |
Missense |
40/53 |
- |
4 |
X-107910372-GC-AG |
c.3563_3564delinsAG |
p.G1188E |
Missense |
40/53 |
- |
2 |
X-107910378-G-A |
c.3569G>A |
p.G1190E |
Missense |
40/53 |
- |
2 |
X-107910380-A-G |
c.3571A>G |
p.N1191D |
Missense |
40/53 |
- |
1 |
X-107910383-C-T |
c.3574C>T |
p.P1192S |
Missense |
40/53 |
- |
2 |
X-107910389-C-A |
c.3580C>A |
p.P1194T |
Missense |
40/53 |
- |
1 |
X-107910390-C-T |
c.3581C>T |
p.P1194L |
Missense |
40/53 |
- |
3 |
X-107910391-C-A |
c.3582C>A |
p.P1194= |
Synonymous |
40/53 |
- |
1 |
X-107910391-C-G |
c.3582C>G |
p.P1194= |
Synonymous |
40/53 |
- |
1 |
X-107910391-C-T |
c.3582C>T |
p.P1194= |
Synonymous |
40/53 |
- |
1 |
X-107910392-C-T |
c.3583C>T |
p.P1195S |
Missense |
40/53 |
- |
1 |
X-107910395-G-A |
c.3586G>A |
p.G1196R |
Missense |
40/53 |
- |
3 |
X-107910395-G-C |
c.3586G>C |
p.G1196R |
Missense |
40/53 |
- |
1 |
X-107910396-G-A |
c.3587G>A |
p.G1196E |
Missense |
40/53 |
- |
2 |
X-107910396-G-T |
c.3587G>T |
p.G1196V |
Missense |
40/53 |
- |
2 |
X-107910397-A-G |
c.3588A>G |
p.G1196= |
Synonymous |
40/53 |
- |
1 |
X-107910401-C-T |
c.3592C>T |
p.P1198S |
Missense |
40/53 |
- |
1 |
X-107910405-G-A |
c.3596G>A |
p.G1199E |
Missense |
40/53 |
- |
1 |
X-107910407-CT-C |
c.3601del |
p.S1201Lfs*104 |
Frameshift |
40/53 |
- |
1 |
X-107910413-G-A |
c.3604G>A |
p.G1202S |
Missense |
40/53 |
- |
2 |
X-107910413-G-T |
c.3604G>T |
p.G1202C |
Missense |
40/53 |
- |
2 |
X-107910414-G-A |
c.3604+1G>A |
- |
IntronicSNV |
- |
40/52 |
1 |
X-107910415-T-A |
c.3604+2T>A |
- |
IntronicSNV |
- |
40/52 |
1 |
X-107910416-A-T |
c.3604+3A>T |
- |
IntronicSNV |
- |
40/52 |
1 |
X-107911549-G-T |
c.3605G>T |
p.G1202V |
Missense |
41/53 |
- |
2 |
X-107911555-A-G |
c.3611A>G |
p.K1204R |
Missense |
41/53 |
- |
2 |
X-107911557-G-A |
c.3613G>A |
p.G1205S |
Missense |
41/53 |
- |
3 |
X-107911557-G-T |
c.3613G>T |
p.G1205C |
Missense |
41/53 |
- |
4 |
X-107911558-G-A |
c.3614G>A |
p.G1205D |
Missense |
41/53 |
- |
2 |
X-107911558-G-T |
c.3614G>T |
p.G1205V |
Missense |
41/53 |
- |
4 |
X-107911558-GT-AG |
c.3614_3615delinsAG |
p.G1205E |
Missense |
41/53 |
- |
1 |
X-107911562-ATGGAG-A |
c.3618_3622del |
p.D1206Efs*44 |
Frameshift |
41/53 |
- |
1 |
X-107911563-GGA-AGC |
c.3619_3621delinsAGC |
p.G1207S |
Missense |
41/53 |
- |
1 |
X-107911563-G-T |
c.3619G>T |
p.G1207* |
Nonsense |
41/53 |
- |
1 |
X-107911564-G-C |
c.3620G>C |
p.G1207A |
Missense |
41/53 |
- |
1 |
X-107911566-G-A |
c.3622G>A |
p.G1208R |
Missense |
41/53 |
- |
1 |
X-107911566-G-C |
c.3622G>C |
p.G1208R |
Missense |
41/53 |
- |
1 |
X-107911567-G-A |
c.3623G>A |
p.G1208E |
Missense |
41/53 |
- |
6 |
X-107911571-A-C |
c.3627A>C |
p.L1209F |
Missense |
41/53 |
- |
1 |
X-107911571-A-G |
c.3627A>G |
p.L1209= |
Synonymous |
41/53 |
- |
1 |
X-107911571-A-T |
c.3627A>T |
p.L1209F |
Missense |
41/53 |
- |
1 |
X-107911572-C-T |
c.3628C>T |
p.P1210S |
Missense |
41/53 |
- |
1 |
X-107911573-C-T |
c.3629C>T |
p.P1210L |
Missense |
41/53 |
- |
1 |
X-107911574-T-C |
c.3630T>C |
p.P1210= |
Synonymous |
41/53 |
- |
1 |
X-107911575-G-A |
c.3631G>A |
p.G1211R |
Missense |
41/53 |
- |
1 |
X-107911575-G-C |
c.3631G>C |
p.G1211R |
Missense |
41/53 |
- |
3 |
X-107911576-G-A |
c.3632G>A |
p.G1211E |
Missense |
41/53 |
- |
8 |
X-107911576-G-T |
c.3632G>T |
p.G1211V |
Missense |
41/53 |
- |
3 |
X-107911581-C-T |
c.3637C>T |
p.P1213S |
Missense |
41/53 |
- |
2 |
X-107911582-C-T |
c.3638C>T |
p.P1213L |
Missense |
41/53 |
- |
2 |
X-107911585-G-A |
c.3641G>A |
p.G1214E |
Missense |
41/53 |
- |
5 |
X-107911590-C-T |
c.3646C>T |
p.P1216S |
Missense |
41/53 |
- |
5 |
X-107911589-TC-T |
c.3647del |
p.P1216Lfs*89 |
Frameshift |
41/53 |
- |
1 |
X-107911591-C-A |
c.3647C>A |
p.P1216H |
Missense |
41/53 |
- |
1 |
X-107911591-C-T |
c.3647C>T |
p.P1216L |
Missense |
41/53 |
- |
1 |
X-107911594-G-A |
c.3650G>A |
p.G1217D |
Missense |
41/53 |
- |
3 |
X-107911595-C-A |
c.3651C>A |
p.G1217= |
Synonymous |
41/53 |
- |
1 |
X-107911595-C-G |
c.3651C>G |
p.G1217= |
Synonymous |
41/53 |
- |
1 |
X-107911595-C-T |
c.3651C>T |
p.G1217= |
Synonymous |
41/53 |
- |
2 |
X-107911597-T-G |
c.3653T>G |
p.L1218R |
Missense |
41/53 |
- |
1 |
X-107911599-C-T |
c.3655C>T |
p.P1219S |
Missense |
41/53 |
- |
5 |
X-107911600-C-T |
c.3656C>T |
p.P1219L |
Missense |
41/53 |
- |
4 |
X-107911598-TCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGG-T |
c.3657_3715del |
p.G1220Sfs*12 |
InFrameDeletion |
41/53 |
- |
1 |
X-107911601-A-C |
c.3657A>C |
p.P1219= |
Synonymous |
41/53 |
- |
1 |
X-107911601-A-G |
c.3657A>G |
p.P1219= |
Synonymous |
41/53 |
- |
2 |
X-107911601-A-T |
c.3657A>T |
p.P1219= |
Synonymous |
41/53 |
- |
1 |
X-107911602-G-A |
c.3658G>A |
p.G1220S |
Missense |
41/53 |
- |
1 |
X-107911603-G-A |
c.3659G>A |
p.G1220D |
Missense |
41/53 |
- |
7 |
X-107911603-G-T |
c.3659G>T |
p.G1220V |
Missense |
41/53 |
- |
3 |
X-107911605-C-A |
c.3661C>A |
p.P1221T |
Missense |
41/53 |
- |
1 |
X-107911605-C-T |
c.3661C>T |
p.P1221S |
Missense |
41/53 |
- |
3 |
X-107911610-G-A |
c.3666G>A |
p.K1222= |
Synonymous |
41/53 |
- |
1 |
X-107911610-G-T |
c.3666G>T |
p.K1222N |
Missense |
41/53 |
- |
2 |
X-107911612-G-A |
c.3668G>A |
p.G1223D |
Missense |
41/53 |
- |
2 |
X-107911612-G-T |
c.3668G>T |
p.G1223V |
Missense |
41/53 |
- |
3 |
X-107911614-G-A |
c.3670G>A |
p.E1224K |
Missense |
41/53 |
- |
9 |
X-107911622-C-T |
c.3678C>T |
p.G1226= |
Synonymous |
41/53 |
- |
2 |
X-107911628-C-T |
c.3684C>T |
p.H1228= |
Synonymous |
41/53 |
- |
2 |
X-107911629-G-A |
c.3685G>A |
p.G1229S |
Missense |
41/53 |
- |
5 |
X-107911629-G-T |
c.3685G>T |
p.G1229C |
Missense |
41/53 |
- |
4 |
X-107911630-G-A |
c.3686G>A |
p.G1229D |
Missense |
41/53 |
- |
4 |
X-107911630-G-T |
c.3686G>T |
p.G1229V |
Missense |
41/53 |
- |
2 |
X-107911634-C-T |
c.3690C>T |
p.F1230= |
Synonymous |
41/53 |
- |
2 |
X-107911635-C-T |
c.3691C>T |
p.P1231S |
Missense |
41/53 |
- |
2 |
X-107911633-TC-T |
c.3692del |
p.P1231Lfs*74 |
Frameshift |
41/53 |
- |
1 |
X-107911633-T-TC |
c.3692dup |
p.G1232Wfs*20 |
Frameshift |
41/53 |
- |
1 |
X-107911638-G-A |
c.3694G>A |
p.G1232S |
Missense |
41/53 |
- |
2 |
X-107911639-G-A |
c.3695G>A |
p.G1232D |
Missense |
41/53 |
- |
1 |
X-107911639-G-C |
c.3695G>C |
p.G1232A |
Missense |
41/53 |
- |
1 |
X-107911639-G-T |
c.3695G>T |
p.G1232V |
Missense |
41/53 |
- |
1 |
X-107911640-T-A |
c.3696T>A |
p.G1232= |
Synonymous |
41/53 |
- |
1 |
X-107911640-T-C |
c.3696T>C |
p.G1232= |
Synonymous |
41/53 |
- |
1 |
X-107911640-T-G |
c.3696T>G |
p.G1232= |
Synonymous |
41/53 |
- |
1 |
X-107911643-G-A |
c.3699G>A |
p.V1233= |
Synonymous |
41/53 |
- |
1 |
X-107911644-C-T |
c.3700C>T |
p.Q1234* |
Nonsense |
41/53 |
- |
5 |
X-107911647-G-T |
c.3703G>T |
p.G1235C |
Missense |
41/53 |
- |
3 |
X-107911648-G-A |
c.3704G>A |
p.G1235D |
Missense |
41/53 |
- |
2 |
X-107911648-G-C |
c.3704G>C |
p.G1235A |
Missense |
41/53 |
- |
2 |
X-107911648-G-T |
c.3704G>T |
p.G1235V |
Missense |
41/53 |
- |
3 |
X-107911650-C-T |
c.3706C>T |
p.P1236S |
Missense |
41/53 |
- |
2 |
X-107911651-C-T |
c.3707C>T |
p.P1236L |
Missense |
41/53 |
- |
5 |
X-107911653-C-T |
c.3709C>T |
p.P1237S |
Missense |
41/53 |
- |
5 |
X-107911650-CCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA-C |
c.3710_3761del |
p.P1237Lfs*51 |
Frameshift |
41/53 |
- |
1 |
X-107911657-G-A |
c.3713G>A |
p.G1238D |
Missense |
41/53 |
- |
1 |
X-107911660-C-A |
c.3716C>A |
p.P1239H |
Missense |
41/53 |
- |
3 |
X-107911660-C-T |
c.3716C>T |
p.P1239L |
Missense |
41/53 |
- |
2 |
X-107911665-G-C |
c.3721G>C |
p.G1241R |
Missense |
41/53 |
- |
2 |
X-107911665-G-T |
c.3721G>T |
p.G1241C |
Missense |
41/53 |
- |
3 |
X-107911666-G-A |
c.3722G>A |
p.G1241D |
Missense |
41/53 |
- |
3 |
X-107911666-G-T |
c.3722G>T |
p.G1241V |
Missense |
41/53 |
- |
2 |
X-107911669-C-T |
c.3725C>T |
p.S1242F |
Missense |
41/53 |
- |
1 |
X-107911671-C-T |
c.3727C>T |
p.P1243S |
Missense |
41/53 |
- |
4 |
X-107911672-C-T |
c.3728C>T |
p.P1243L |
Missense |
41/53 |
- |
5 |
X-107911674-G-A |
c.3730G>A |
p.G1244S |
Missense |
41/53 |
- |
1 |
X-107911675-G-A |
c.3731G>A |
p.G1244D |
Missense |
41/53 |
- |
6 |
X-107911678-C-T |
c.3734C>T |
p.P1245L |
Missense |
41/53 |
- |
1 |
X-107911680-G-T |
c.3736G>T |
p.A1246S |
Missense |
41/53 |
- |
1 |
X-107911683-C-G |
c.3739C>G |
p.L1247V |
Missense |
41/53 |
- |
2 |
X-107911683-C-T |
c.3739C>T |
p.L1247= |
Synonymous |
41/53 |
- |
1 |
X-107911685-G-A |
c.3741G>A |
p.L1247= |
Synonymous |
41/53 |
- |
1 |
X-107911685-G-C |
c.3741G>C |
p.L1247= |
Synonymous |
41/53 |
- |
1 |
X-107911685-G-T |
c.3741G>T |
p.L1247= |
Synonymous |
41/53 |
- |
1 |
X-107911689-G-A |
c.3745G>A |
p.G1249R |
Missense |
41/53 |
- |
1 |
X-107911689-G-T |
c.3745G>T |
p.G1249* |
Nonsense |
41/53 |
- |
3 |
X-107911688-AG-A |
c.3746del |
p.G1249Dfs*56 |
Frameshift |
41/53 |
- |
2 |
X-107911692-C-T |
c.3748C>T |
p.P1250S |
Missense |
41/53 |
- |
1 |
X-107911698-G-A |
c.3754G>A |
p.G1252S |
Missense |
41/53 |
- |
4 |
X-107911706-T-A |
c.3762T>A |
p.P1254= |
Synonymous |
41/53 |
- |
2 |
X-107911706-T-C |
c.3762T>C |
p.P1254= |
Synonymous |
41/53 |
- |
2 |
X-107911706-T-G |
c.3762T>G |
p.P1254= |
Synonymous |
41/53 |
- |
3 |
X-107911707-G-A |
c.3763G>A |
p.G1255R |
Missense |
41/53 |
- |
2 |
X-107911710-C-A |
c.3766C>A |
p.P1256T |
Missense |
41/53 |
- |
1 |
X-107911710-C-T |
c.3766C>T |
p.P1256S |
Missense |
41/53 |
- |
1 |
X-107911711-C-T |
c.3767C>T |
p.P1256L |
Missense |
41/53 |
- |
1 |
X-107911712-C-T |
c.3768C>T |
p.P1256= |
Synonymous |
41/53 |
- |
1 |
X-107911713-C-A |
c.3769C>A |
p.Q1257K |
Missense |
41/53 |
- |
1 |
X-107911714-A-G |
c.3770A>G |
p.Q1257R |
Missense |
41/53 |
- |
1 |
X-107911714-A-T |
c.3770A>T |
p.Q1257L |
Missense |
41/53 |
- |
1 |
X-107911715-A-C |
c.3771A>C |
p.Q1257H |
Missense |
41/53 |
- |
1 |
X-107911715-A-T |
c.3771A>T |
p.Q1257H |
Missense |
41/53 |
- |
1 |
X-107911716-G-A |
c.3772G>A |
p.G1258S |
Missense |
41/53 |
- |
4 |
X-107911719-C-A |
c.3775C>A |
p.P1259T |
Missense |
41/53 |
- |
2 |
X-107911725-G-A |
c.3781G>A |
p.G1261R |
Missense |
41/53 |
- |
2 |
X-107911726-G-A |
c.3782G>A |
p.G1261E |
Missense |
41/53 |
- |
5 |
X-107911727-G-A |
c.3783G>A |
p.G1261= |
Synonymous |
41/53 |
- |
2 |
X-107911727-G-C |
c.3783G>C |
p.G1261= |
Synonymous |
41/53 |
- |
1 |
X-107911727-G-T |
c.3783G>T |
p.G1261= |
Synonymous |
41/53 |
- |
1 |
X-107911729-G-A |
c.3785G>A |
p.R1262K |
Missense |
41/53 |
- |
2 |
X-107911728-A-C |
c.3784A>C |
p.R1262= |
Synonymous |
41/53 |
- |
1 |
X-107911730-A-G |
c.3786A>G |
p.R1262= |
Synonymous |
41/53 |
- |
1 |
X-107911731-C-T |
c.3787C>T |
p.P1263S |
Missense |
41/53 |
- |
4 |
X-107911732-C-G |
c.3788C>G |
p.P1263R |
Missense |
41/53 |
- |
1 |
X-107911734-G-A |
c.3790G>A |
p.G1264S |
Missense |
41/53 |
- |
4 |
X-107911734-G-C |
c.3790G>C |
p.G1264R |
Missense |
41/53 |
- |
1 |
X-107911733-AG-A |
c.3790+1del |
- |
IntronicDeletion |
- |
41/52 |
1 |
X-107911735-G-A |
c.3790+1G>A |
- |
IntronicSNV |
- |
41/52 |
1 |
X-107911845-A-G |
c.3790+111A>G |
- |
IntronicSNV |
- |
41/52 |
1 |
X-107913458-G-A |
c.3791G>A |
p.G1264D |
Missense |
42/53 |
- |
1 |
X-107913463-A-G |
c.3796A>G |
p.T1266A |
Missense |
42/53 |
- |
2 |
X-107913466-G-A |
c.3799G>A |
p.G1267S |
Missense |
42/53 |
- |
3 |
X-107913935-A-G |
c.3799+469A>G |
- |
IntronicSNV |
- |
42/52 |
1 |
X-107914269-GA-G |
c.3799+813del |
- |
IntronicDeletion |
- |
42/52 |
1 |
X-107917815-G-A |
c.3800-160G>A |
- |
IntronicSNV |
- |
42/52 |
1 |
X-107917815-G-C |
c.3800-160G>C |
- |
IntronicSNV |
- |
42/52 |
1 |
X-107917975-G-T |
c.3800G>T |
p.G1267V |
Missense |
43/53 |
- |
1 |
X-107917983-G-A |
c.3808G>A |
p.G1270S |
Missense |
43/53 |
- |
2 |
X-107917984-G-C |
c.3808+1G>C |
- |
IntronicSNV |
- |
43/52 |
1 |
X-107918005-TTC-T |
c.3808+24_3808+25del |
- |
IntronicDeletion |
- |
43/52 |
1 |
X-107918007-TC-T |
c.3808+24del |
- |
IntronicDeletion |
- |
43/52 |
1 |
X-107918007-CTT-C |
c.3808+41_3808+42del |
- |
IntronicDeletion |
- |
43/52 |
1 |
X-107918007-CT-C |
c.3808+42del |
- |
IntronicDeletion |
- |
43/52 |
1 |
X-107918034-G-T |
c.3808+51G>T |
- |
IntronicSNV |
- |
43/52 |
1 |
X-107920732-C-T |
c.3811C>T |
p.L1271= |
Synonymous |
44/53 |
- |
2 |
X-107920734-A-C |
c.3813A>C |
p.L1271= |
Synonymous |
44/53 |
- |
1 |
X-107920734-A-G |
c.3813A>G |
p.L1271= |
Synonymous |
44/53 |
- |
1 |
X-107920734-A-T |
c.3813A>T |
p.L1271= |
Synonymous |
44/53 |
- |
1 |
X-107920736-C-T |
c.3815C>T |
p.P1272L |
Missense |
44/53 |
- |
1 |
X-107920738-G-A |
c.3817G>A |
p.G1273S |
Missense |
44/53 |
- |
3 |
X-107920739-G-C |
c.3818G>C |
p.G1273A |
Missense |
44/53 |
- |
1 |
X-107920740-GTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAATC-G |
c.3819_3877del |
p.P1274Rfs*23 |
InFrameDeletion |
44/53 |
- |
2 |
X-107920741-C-A |
c.3820C>A |
p.P1274T |
Missense |
44/53 |
- |
1 |
X-107920741-C-T |
c.3820C>T |
p.P1274S |
Missense |
44/53 |
- |
2 |
X-107920744-G-T |
c.3823G>T |
p.E1275* |
Nonsense |
44/53 |
- |
1 |
X-107920747-G-A |
c.3826G>A |
p.G1276S |
Missense |
44/53 |
- |
3 |
X-107920748-G-A |
c.3827G>A |
p.G1276D |
Missense |
44/53 |
- |
1 |
X-107920750-C-A |
c.3829C>A |
p.P1277T |
Missense |
44/53 |
- |
2 |
X-107920750-C-T |
c.3829C>T |
p.P1277S |
Missense |
44/53 |
- |
4 |
X-107920753-C-T |
c.3832C>T |
p.P1278S |
Missense |
44/53 |
- |
1 |
X-107920752-TC-T |
c.3833del |
p.P1278Qfs*27 |
Frameshift |
44/53 |
- |
1 |
X-107920754-C-T |
c.3833C>T |
p.P1278L |
Missense |
44/53 |
- |
1 |
X-107920756-G-A |
c.3835G>A |
p.G1279S |
Missense |
44/53 |
- |
1 |
X-107920756-G-T |
c.3835G>T |
p.G1279C |
Missense |
44/53 |
- |
1 |
X-107920757-G-A |
c.3836G>A |
p.G1279D |
Missense |
44/53 |
- |
1 |
X-107920759-C-T |
c.3838C>T |
p.L1280F |
Missense |
44/53 |
- |
1 |
X-107920762-C-T |
c.3841C>T |
p.P1281S |
Missense |
44/53 |
- |
1 |
X-107920766-G-A |
c.3845G>A |
p.G1282E |
Missense |
44/53 |
- |
4 |
X-107920771-G-A |
c.3850G>A |
p.G1284R |
Missense |
44/53 |
- |
1 |
X-107920771-G-C |
c.3850G>C |
p.G1284R |
Missense |
44/53 |
- |
1 |
X-107920772-G-C |
c.3851G>C |
p.G1284A |
Missense |
44/53 |
- |
1 |
X-107920774-G-A |
c.3853G>A |
p.G1285S |
Missense |
44/53 |
- |
4 |
X-107920773-AG-A |
c.3854del |
p.G1285Vfs*20 |
Frameshift |
44/53 |
- |
1 |
X-107920775-GT-AG |
c.3854_3855delinsAG |
p.G1285E |
Missense |
44/53 |
- |
2 |
X-107920785-A-C |
c.3864A>C |
p.G1288= |
Synonymous |
44/53 |
- |
1 |
X-107920785-A-G |
c.3864A>G |
p.G1288= |
Synonymous |
44/53 |
- |
1 |
X-107920785-A-T |
c.3864A>T |
p.G1288= |
Synonymous |
44/53 |
- |
1 |
X-107920790-A-C |
c.3869A>C |
p.K1290T |
Missense |
44/53 |
- |
1 |
X-107920793-G-A |
c.3872G>A |
p.G1291E |
Missense |
44/53 |
- |
1 |
X-107920797-T-G |
c.3876T>G |
p.N1292K |
Missense |
44/53 |
- |
1 |
X-107920804-C-T |
c.3883C>T |
p.Q1295* |
Nonsense |
44/53 |
- |
1 |
X-107920807-C-T |
c.3886C>T |
p.P1296S |
Missense |
44/53 |
- |
2 |
X-107920808-C-T |
c.3887C>T |
p.P1296L |
Missense |
44/53 |
- |
1 |
X-107920813-C-T |
c.3892C>T |
p.L1298= |
Synonymous |
44/53 |
- |
1 |
X-107920820-G-C |
c.3899G>C |
p.G1300A |
Missense |
44/53 |
- |
2 |
X-107920825-C-T |
c.3904C>T |
p.P1302S |
Missense |
44/53 |
- |
1 |
X-107920826-C-T |
c.3905C>T |
p.P1302L |
Missense |
44/53 |
- |
2 |
X-107920829-G-C |
c.3908G>C |
p.G1303A |
Missense |
44/53 |
- |
2 |
X-107920831-T-C |
c.3910T>C |
p.L1304= |
Synonymous |
44/53 |
- |
1 |
X-107920831-T-G |
c.3910T>G |
p.L1304V |
Missense |
44/53 |
- |
1 |
X-107920833-G-A |
c.3912G>A |
p.L1304= |
Synonymous |
44/53 |
- |
1 |
X-107920836-AG-A |
c.3917del |
p.G1306Efs*20 |
Frameshift |
44/53 |
- |
1 |
X-107920838-G-A |
c.3917G>A |
p.G1306E |
Missense |
44/53 |
- |
1 |
X-107920840-G-A |
c.3919G>A |
p.D1307N |
Missense |
44/53 |
- |
2 |
X-107920843-C-A |
c.3922C>A |
p.Q1308K |
Missense |
44/53 |
- |
1 |
X-107920844-A-G |
c.3923A>G |
p.Q1308R |
Missense |
44/53 |
- |
2 |
X-107920845-A-C |
c.3924A>C |
p.Q1308H |
Missense |
44/53 |
- |
3 |
X-107920845-A-T |
c.3924A>T |
p.Q1308H |
Missense |
44/53 |
- |
3 |
X-107920846-G-C |
c.3925G>C |
p.G1309R |
Missense |
44/53 |
- |
1 |
X-107920847-G-A |
c.3926G>A |
p.G1309E |
Missense |
44/53 |
- |
1 |
X-107920852-C-G |
c.3931C>G |
p.P1311A |
Missense |
44/53 |
- |
1 |
X-107920852-C-T |
c.3931C>T |
p.P1311S |
Missense |
44/53 |
- |
7 |
X-107920853-C-T |
c.3932C>T |
p.P1311L |
Missense |
44/53 |
- |
2 |
X-107920856-G-C |
c.3935G>C |
p.G1312A |
Missense |
44/53 |
- |
1 |
X-107920858-C-A |
c.3937C>A |
p.L1313I |
Missense |
44/53 |
- |
1 |
X-107920859-CT-C |
c.3938del |
p.L1313Pfs*13 |
Frameshift |
44/53 |
- |
1 |
X-107920859-T-C |
c.3938T>C |
p.L1313P |
Missense |
44/53 |
- |
1 |
X-107920861-C-T |
c.3940C>T |
p.Q1314* |
Nonsense |
44/53 |
- |
2 |
X-107920863-G-A |
c.3942G>A |
p.Q1314= |
Synonymous |
44/53 |
- |
1 |
X-107920863-G-C |
c.3942G>C |
p.Q1314H |
Missense |
44/53 |
- |
2 |
X-107920863-G-T |
c.3942G>T |
p.Q1314H |
Missense |
44/53 |
- |
1 |
X-107920864-G-C |
c.3942+1G>C |
- |
IntronicSNV |
- |
44/52 |
1 |
X-107920865-T-G |
c.3942+2T>G |
- |
IntronicSNV |
- |
44/52 |
1 |
X-107923909-G-A |
c.3943G>A |
p.G1315S |
Missense |
45/53 |
- |
1 |
X-107923914-T-G |
c.3948T>G |
p.N1316K |
Missense |
45/53 |
- |
1 |
X-107923920-C-T |
c.3954C>T |
p.G1318= |
Synonymous |
45/53 |
- |
2 |
X-107923921-C-A |
c.3955C>A |
p.R1319= |
Synonymous |
45/53 |
- |
1 |
X-107923921-C-T |
c.3955C>T |
p.R1319W |
Missense |
45/53 |
- |
1 |