7-55086755-G-C |
c.-216G>C |
- |
5-UTRSNV |
1/28 |
- |
29 |
7-55086755-G-T |
c.-216G>T |
- |
5-UTRSNV |
1/28 |
- |
29 |
7-55086780-A-C |
c.-191A>C |
- |
5-UTRSNV |
1/28 |
- |
21 |
7-55086972-ATGCGACCCTCCGGGACGGCCGGGGCAGCGCTCCTGGCGCTGCTGGCTGCGCTCTGCCCG-A |
c.2_60del |
p.M1_?20 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion |
1/28 |
- |
1 |
7-55086974-C-A |
c.4C>A |
p.R2= |
Synonymous |
1/28 |
- |
121 |
7-55086976-A-C |
c.6A>C |
p.R2= |
Synonymous |
1/28 |
- |
117 |
7-55086976-A-G |
c.6A>G |
p.R2= |
Synonymous |
1/28 |
- |
117 |
7-55086976-A-T |
c.6A>T |
p.R2= |
Synonymous |
1/28 |
- |
117 |
7-55086974-C-T |
c.4C>T |
p.R2* |
Nonsense |
1/28 |
- |
4 |
7-55086974-CG-GA |
c.4_5delinsGA |
p.R2E |
Missense |
1/28 |
- |
1 |
7-55086975-G-A |
c.5G>A |
p.R2Q |
Missense |
1/28 |
- |
1 |
7-55086979-C-T |
c.9C>T |
p.P3= |
Synonymous |
1/28 |
- |
4 |
7-55086979-C-G |
c.9C>G |
p.P3= |
Synonymous |
1/28 |
- |
4 |
7-55086979-C-A |
c.9C>A |
p.P3= |
Synonymous |
1/28 |
- |
4 |
7-55086985-G-T |
c.15G>T |
p.G5= |
Synonymous |
1/28 |
- |
1 |
7-55086985-G-A |
c.15G>A |
p.G5= |
Synonymous |
1/28 |
- |
1 |
7-55086985-G-C |
c.15G>C |
p.G5= |
Synonymous |
1/28 |
- |
1 |
7-55086987-C-A |
c.17C>A |
p.T6K |
Missense |
1/28 |
- |
1 |
7-55086991-C-A |
c.21C>A |
p.A7= |
Synonymous |
1/28 |
- |
1 |
7-55086991-C-G |
c.21C>G |
p.A7= |
Synonymous |
1/28 |
- |
1 |
7-55086991-C-T |
c.21C>T |
p.A7= |
Synonymous |
1/28 |
- |
1 |
7-55086992-G-C |
c.22G>C |
p.G8R |
Missense |
1/28 |
- |
1 |
7-55086991-C-CGGCCAGCGT |
c.23_24insCCAGCGTGG |
p.G8_A9insQRG |
InFrameInsertion |
1/28 |
- |
1 |
7-55086994-G-GTA |
c.24_25insTA |
p.A9* |
Nonsense |
1/28 |
- |
1 |
7-55086996-C-T |
c.26C>T |
p.A9V |
Missense |
1/28 |
- |
1 |
7-55086997-A-C |
c.27A>C |
p.A9= |
Synonymous |
1/28 |
- |
1 |
7-55086998-GCG-TTT |
c.28_30delinsTTT |
p.A10F |
Missense |
1/28 |
- |
4 |
7-55086998-GCG-TGT |
c.28_30delinsTGT |
p.A10C |
Missense |
1/28 |
- |
3 |
7-55086998-GC-TA |
c.28_29delinsTA |
p.A10* |
Nonsense |
1/28 |
- |
1 |
7-55086998-GCG-ATC |
c.28_30delinsATC |
p.A10I |
Missense |
1/28 |
- |
2 |
7-55086998-GCG-CAT |
c.28_30delinsCAT |
p.A10H |
Missense |
1/28 |
- |
1 |
7-55086998-GC-CT |
c.28_29delinsCT |
p.A10L |
Missense |
1/28 |
- |
1 |
7-55086998-G-A |
c.28G>A |
p.A10T |
Missense |
1/28 |
- |
1 |
7-55086998-GC-AA |
c.28_29delinsAA |
p.A10K |
Missense |
1/28 |
- |
1 |
7-55086999-CG-AC |
c.29_30delinsAC |
p.A10D |
Missense |
1/28 |
- |
3 |
7-55087000-G-A |
c.30G>A |
p.A10= |
Synonymous |
1/28 |
- |
6 |
7-55087000-G-C |
c.30G>C |
p.A10= |
Synonymous |
1/28 |
- |
6 |
7-55087000-G-T |
c.30G>T |
p.A10= |
Synonymous |
1/28 |
- |
6 |
7-55087001-CTC-GAG |
c.31_33inv |
p.L11E |
Missense |
1/28 |
- |
1 |
7-55087001-CT-AG |
c.31_32inv |
p.L11S |
Missense |
1/28 |
- |
1 |
7-55087001-CT-GA |
c.31_32delinsGA |
p.L11D |
Missense |
1/28 |
- |
1 |
7-55087001-CT-GC |
c.31_32delinsGC |
p.L11A |
Missense |
1/28 |
- |
1 |
7-55087004-C-A |
c.34C>A |
p.L12M |
Missense |
1/28 |
- |
2 |
7-55087004-CT-GC |
c.34_35delinsGC |
p.L12A |
Missense |
1/28 |
- |
1 |
7-55087004-C-T |
c.34C>T |
p.L12= |
Synonymous |
1/28 |
- |
1 |
7-55087004-CTG-TGT |
c.34_36delinsTGT |
p.L12C |
Missense |
1/28 |
- |
1 |
7-55087004-CTG-GAC |
c.34_36delinsGAC |
p.L12D |
Missense |
1/28 |
- |
1 |
7-55087007-GCG-TGT |
c.37_39delinsTGT |
p.A13C |
Missense |
1/28 |
- |
3 |
7-55087007-G-A |
c.37G>A |
p.A13T |
Missense |
1/28 |
- |
2 |
7-55087007-G-C |
c.37G>C |
p.A13P |
Missense |
1/28 |
- |
1 |
7-55087007-G-T |
c.37G>T |
p.A13S |
Missense |
1/28 |
- |
2 |
7-55087007-GC-CT |
c.37_38delinsCT |
p.A13L |
Missense |
1/28 |
- |
1 |
7-55087008-CG-AC |
c.38_39delinsAC |
p.A13D |
Missense |
1/28 |
- |
2 |
7-55087008-C-T |
c.38C>T |
p.A13V |
Missense |
1/28 |
- |
5 |
7-55087009-G-A |
c.39G>A |
p.A13= |
Synonymous |
1/28 |
- |
3 |
7-55087009-G-C |
c.39G>C |
p.A13= |
Synonymous |
1/28 |
- |
3 |
7-55087009-G-T |
c.39G>T |
p.A13= |
Synonymous |
1/28 |
- |
3 |
7-55087010-CT-GC |
c.40_41delinsGC |
p.L14A |
Missense |
1/28 |
- |
1 |
7-55087010-CTG-ATC |
c.40_42delinsATC |
p.L14I |
Missense |
1/28 |
- |
1 |
7-55087010-CTG-GAC |
c.40_42delinsGAC |
p.L14D |
Missense |
1/28 |
- |
1 |
7-55087010-CT-GA |
c.40_41delinsGA |
p.L14E |
Missense |
1/28 |
- |
1 |
7-55087010-CT-GG |
c.40_41delinsGG |
p.L14G |
Missense |
1/28 |
- |
1 |
7-55087011-TG-AT |
c.41_42delinsAT |
p.L14H |
Missense |
1/28 |
- |
2 |
7-55087013-C-A |
c.43C>A |
p.L15M |
Missense |
1/28 |
- |
2 |
7-55087013-CT-GA |
c.43_44delinsGA |
p.L15E |
Missense |
1/28 |
- |
2 |
7-55087013-CT-GC |
c.43_44delinsGC |
p.L15A |
Missense |
1/28 |
- |
1 |
7-55087013-CTG-GAC |
c.43_45delinsGAC |
p.L15D |
Missense |
1/28 |
- |
1 |
7-55087013-CTG-TTT |
c.43_45delinsTTT |
p.L15F |
Missense |
1/28 |
- |
1 |
7-55087013-CT-GG |
c.43_44delinsGG |
p.L15G |
Missense |
1/28 |
- |
1 |
7-55087013-CTG-ATC |
c.43_45delinsATC |
p.L15I |
Missense |
1/28 |
- |
1 |
7-55087014-T-C |
c.44T>C |
p.L15P |
Missense |
1/28 |
- |
2 |
7-55087014-TG-AT |
c.44_45delinsAT |
p.L15H |
Missense |
1/28 |
- |
1 |
7-55087016-GCT-TGG |
c.46_48delinsTGG |
p.A16W |
Missense |
1/28 |
- |
1 |
7-55087016-G-A |
c.46G>A |
p.A16T |
Missense |
1/28 |
- |
1 |
7-55087016-GC-TT |
c.46_47delinsTT |
p.A16F |
Missense |
1/28 |
- |
1 |
7-55087017-C-T |
c.47C>T |
p.A16V |
Missense |
1/28 |
- |
4 |
7-55087017-CT-AG |
c.47_48inv |
p.A16E |
Missense |
1/28 |
- |
2 |
7-55087017-C-G |
c.47C>G |
p.A16G |
Missense |
1/28 |
- |
2 |
7-55087017-C-A |
c.47C>A |
p.A16D |
Missense |
1/28 |
- |
1 |
7-55087018-T-A |
c.48T>A |
p.A16= |
Synonymous |
1/28 |
- |
4 |
7-55087018-T-C |
c.48T>C |
p.A16= |
Synonymous |
1/28 |
- |
4 |
7-55087018-T-G |
c.48T>G |
p.A16= |
Synonymous |
1/28 |
- |
4 |
7-55087019-GCG-TTT |
c.49_51delinsTTT |
p.A17F |
Missense |
1/28 |
- |
2 |
7-55087019-G-A |
c.49G>A |
p.A17T |
Missense |
1/28 |
- |
2 |
7-55087020-C-T |
c.50C>T |
p.A17V |
Missense |
1/28 |
- |
1 |
7-55087020-C-A |
c.50C>A |
p.A17E |
Missense |
1/28 |
- |
3 |
7-55087020-C-G |
c.50C>G |
p.A17G |
Missense |
1/28 |
- |
1 |
7-55087022-C-T |
c.52C>T |
p.L18F |
Missense |
1/28 |
- |
4 |
7-55087022-C-A |
c.52C>A |
p.L18I |
Missense |
1/28 |
- |
3 |
7-55087022-CT-GC |
c.52_53delinsGC |
p.L18A |
Missense |
1/28 |
- |
1 |
7-55087025-TG-GC |
c.55_56delinsGC |
p.C19A |
Missense |
1/28 |
- |
1 |
7-55087025-TG-CA |
c.55_56inv |
p.C19H |
Missense |
1/28 |
- |
2 |
7-55087025-TG-AC |
c.55_56delinsAC |
p.C19T |
Missense |
1/28 |
- |
2 |
7-55087025-TGC-ATG |
c.55_57delinsATG |
p.C19M |
Missense |
1/28 |
- |
1 |
7-55087025-T-A |
c.55T>A |
p.C19S |
Missense |
1/28 |
- |
2 |
7-55087026-G-C |
c.56G>C |
p.C19S |
Missense |
1/28 |
- |
2 |
7-55087025-T-G |
c.55T>G |
p.C19G |
Missense |
1/28 |
- |
1 |
7-55087026-G-T |
c.56G>T |
p.C19F |
Missense |
1/28 |
- |
1 |
7-55087027-C-A |
c.57C>A |
p.C19* |
Nonsense |
1/28 |
- |
3 |
7-55087027-C-T |
c.57C>T |
p.C19= |
Synonymous |
1/28 |
- |
1 |
7-55087028-CCG-GAC |
c.58_60delinsGAC |
p.P20D |
Missense |
1/28 |
- |
2 |
7-55087028-C-A |
c.58C>A |
p.P20T |
Missense |
1/28 |
- |
1 |
7-55087028-CC-GA |
c.58_59delinsGA |
p.P20E |
Missense |
1/28 |
- |
1 |
7-55087028-CCG-TGT |
c.58_60delinsTGT |
p.P20C |
Missense |
1/28 |
- |
1 |
7-55087028-CC-AA |
c.58_59delinsAA |
p.P20K |
Missense |
1/28 |
- |
1 |
7-55087029-C-T |
c.59C>T |
p.P20L |
Missense |
1/28 |
- |
1 |
7-55087030-G-T |
c.60G>T |
p.P20= |
Synonymous |
1/28 |
- |
1 |
7-55087030-G-A |
c.60G>A |
p.P20= |
Synonymous |
1/28 |
- |
1 |
7-55087030-G-C |
c.60G>C |
p.P20= |
Synonymous |
1/28 |
- |
1 |
7-55087031-GCG-TTT |
c.61_63delinsTTT |
p.A21F |
Missense |
1/28 |
- |
3 |
7-55087031-GCG-TGT |
c.61_63delinsTGT |
p.A21C |
Missense |
1/28 |
- |
1 |
7-55087031-G-A |
c.61G>A |
p.A21T |
Missense |
1/28 |
- |
2 |
7-55087031-G-C |
c.61G>C |
p.A21P |
Missense |
1/28 |
- |
1 |
7-55087031-G-T |
c.61G>T |
p.A21S |
Missense |
1/28 |
- |
1 |
7-55087032-C-A |
c.62C>A |
p.A21E |
Missense |
1/28 |
- |
3 |
7-55087032-CG-AC |
c.62_63delinsAC |
p.A21D |
Missense |
1/28 |
- |
2 |
7-55087034-GAGTC-G |
c.64_67del |
p.S22Gfs*57 |
Frameshift |
1/28 |
- |
1 |
7-55087034-AG-GC |
c.64_65delinsGC |
p.S22A |
Missense |
1/28 |
- |
3 |
7-55087034-AG-GA |
c.64_65delinsGA |
p.S22D |
Missense |
1/28 |
- |
4 |
7-55087034-AGT-GAG |
c.64_66delinsGAG |
p.S22E |
Missense |
1/28 |
- |
1 |
7-55087034-AG-TT |
c.64_65delinsTT |
p.S22F |
Missense |
1/28 |
- |
1 |
7-55087034-A-G |
c.64A>G |
p.S22G |
Missense |
1/28 |
- |
1 |
7-55087034-A-T |
c.64A>T |
p.S22C |
Missense |
1/28 |
- |
1 |
7-55087035-G-A |
c.65G>A |
p.S22N |
Missense |
1/28 |
- |
6 |
7-55087035-GT-TG |
c.65_66delinsTG |
p.S22M |
Missense |
1/28 |
- |
1 |
7-55087035-G-T |
c.65G>T |
p.S22I |
Missense |
1/28 |
- |
1 |
7-55087036-T-G |
c.66T>G |
p.S22R |
Missense |
1/28 |
- |
1 |
7-55087036-T-A |
c.66T>A |
p.S22R |
Missense |
1/28 |
- |
1 |
7-55087034-A-C |
c.64A>C |
p.S22R |
Missense |
1/28 |
- |
1 |
7-55087037-C-T |
c.67C>T |
p.R23W |
Missense |
1/28 |
- |
3 |
7-55087037-CG-GC |
c.67_68delinsGC |
p.R23A |
Missense |
1/28 |
- |
1 |
7-55087037-CGG-TGT |
c.67_69delinsTGT |
p.R23C |
Missense |
1/28 |
- |
1 |
7-55087037-C-G |
c.67C>G |
p.R23G |
Missense |
1/28 |
- |
1 |
7-55087038-GG-AT |
c.68_69delinsAT |
p.R23H |
Missense |
1/28 |
- |
1 |
7-55087040-GC-TG |
c.70_71delinsTG |
p.A24C |
Missense |
1/28 |
- |
1 |
7-55087040-GC-TT |
c.70_71delinsTT |
p.A24F |
Missense |
1/28 |
- |
2 |
7-55087037-CG-C |
c.70del |
p.A24Lfs*56 |
Frameshift |
1/28 |
- |
1 |
7-55087041-CT-AG |
c.71_72inv |
p.A24E |
Missense |
1/28 |
- |
1 |
7-55087042-T-A |
c.72T>A |
p.A24= |
Synonymous |
1/28 |
- |
4 |
7-55087042-T-C |
c.72T>C |
p.A24= |
Synonymous |
1/28 |
- |
4 |
7-55087042-T-G |
c.72T>G |
p.A24= |
Synonymous |
1/28 |
- |
4 |
7-55087043-CTG-TGT |
c.73_75delinsTGT |
p.L25C |
Missense |
1/28 |
- |
1 |
7-55087043-C-T |
c.73C>T |
p.L25= |
Synonymous |
1/28 |
- |
1 |
7-55087044-T-G |
c.74T>G |
p.L25R |
Missense |
1/28 |
- |
1 |
7-55087046-GAG-TGT |
c.76_78delinsTGT |
p.E26C |
Missense |
1/28 |
- |
1 |
7-55087047-A-T |
c.77A>T |
p.E26V |
Missense |
1/28 |
- |
1 |
7-55087047-A-C |
c.77A>C |
p.E26A |
Missense |
1/28 |
- |
1 |
7-55087049-G-C |
c.79G>C |
p.E27Q |
Missense |
1/28 |
- |
1 |
7-55087049-GAA-TTT |
c.79_81delinsTTT |
p.E27F |
Missense |
1/28 |
- |
1 |
7-55087050-A-C |
c.80A>C |
p.E27A |
Missense |
1/28 |
- |
2 |
7-55087051-A-AGGC |
c.81_82insGGC |
p.E27_K28insG |
InFrameInsertion |
1/28 |
- |
1 |
7-55087052-AA-GC |
c.82_83delinsGC |
p.K28A |
Missense |
1/28 |
- |
1 |
7-55087052-AA-CT |
c.82_83delinsCT |
p.K28L |
Missense |
1/28 |
- |
1 |
7-55087052-AAG-TAT |
c.82_84delinsTAT |
p.K28Y |
Missense |
1/28 |
- |
1 |
7-55087052-A-C |
c.82A>C |
p.K28Q |
Missense |
1/28 |
- |
1 |
7-55087053-A-G |
c.83A>G |
p.K28R |
Missense |
1/28 |
- |
2 |
7-55087053-A-T |
c.83A>T |
p.K28M |
Missense |
1/28 |
- |
2 |
7-55087055-AA-GC |
c.85_86delinsGC |
p.K29A |
Missense |
1/28 |
- |
1 |
7-55087056-A-G |
c.86A>G |
p.K29R |
Missense |
1/28 |
- |
6 |
7-55087060-T-C |
c.88+2T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087071-C-T |
c.88+13C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087139-G-T |
c.88+81G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55088415-T-C |
c.88+1357T>C |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55088508-T-C |
c.88+1450T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55089963-C-A |
c.88+2905C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55089963-C-G |
c.88+2905C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55090379-T-C |
c.88+3321T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55094263-T-C |
c.88+7205T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55095197-A-G |
c.88+8139A>G |
- |
IntronicSNV |
- |
1/27 |
17 |
7-55097774-A-G |
c.88+10716A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55101501-G-C |
c.88+14443G>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55101501-G-T |
c.88+14443G>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55105320-A-G |
c.88+18262A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55109177-A-T |
c.88+22119A>T |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55112410-G-A |
c.88+25352G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112410-G-C |
c.88+25352G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112827-G-A |
c.88+25769G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112827-G-C |
c.88+25769G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55114316-A-G |
c.88+27258A>G |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55116555-T-A |
c.88+29497T>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55116707-G-A |
c.88+29649G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55119501-C-G |
c.88+32443C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55122650-G-A |
c.88+35592G>A |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55123968-C-A |
c.88+36910C>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55123968-C-T |
c.88+36910C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55124319-G-A |
c.88+37261G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55124701-T-A |
c.88+37643T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55124701-T-C |
c.88+37643T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55128207-A-G |
c.88+41149A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55128207-A-T |
c.88+41149A>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55128731-A-G |
c.88+41673A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55132080-C-T |
c.88+45022C>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55134819-A-G |
c.88+47761A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55134872-A-G |
c.88+47814A>G |
- |
IntronicSNV |
- |
1/27 |
13 |
7-55137888-G-A |
c.88+50830G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55138388-C-T |
c.88+51330C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55140296-C-T |
c.88+53238C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55140398-T-C |
c.88+53340T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55140786-G-A |
c.88+53728G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55141317-T-C |
c.88+54259T>C |
- |
IntronicSNV |
- |
1/27 |
9 |
7-55141540-T-C |
c.88+54482T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55142435-G-A |
c.88+55377G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55142654-A-G |
c.88+55596A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55144156-T-A |
c.88+57098T>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55144156-T-C |
c.88+57098T>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55144430-A-G |
c.88+57372A>G |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55144833-C-T |
c.88+57775C>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55145334-G-A |
c.88+58276G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55145334-G-C |
c.88+58276G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55145382-C-T |
c.88+58324C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55147478-G-A |
c.88+60420G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55148715-G-C |
c.89-61264G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55150822-A-T |
c.89-59157A>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55151537-T-C |
c.89-58442T>C |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55151886-G-C |
c.89-58093G>C |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55151886-G-T |
c.89-58093G>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55152337-G-A |
c.89-57642G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55152667-G-A |
c.89-57312G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55153164-T-C |
c.89-56815T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55153237-G-A |
c.89-56742G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55154381-G-A |
c.89-55598G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55154586-G-A |
c.89-55393G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55154586-G-C |
c.89-55393G>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55154636-T-C |
c.89-55343T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55154688-A-C |
c.89-55291A>C |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55154688-A-T |
c.89-55291A>T |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55155372-C-T |
c.89-54607C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55155988-G-A |
c.89-53991G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55155988-G-C |
c.89-53991G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55156071-G-A |
c.89-53908G>A |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55156419-T-A |
c.89-53560T>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55159349-A-G |
c.89-50630A>G |
- |
IntronicSNV |
- |
1/27 |
38 |
7-55159349-A-T |
c.89-50630A>T |
- |
IntronicSNV |
- |
1/27 |
38 |
7-55160538-A-G |
c.89-49441A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55160995-T-A |
c.89-48984T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55160995-T-C |
c.89-48984T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55161043-G-A |
c.89-48936G>A |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55161043-G-C |
c.89-48936G>C |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55161043-G-T |
c.89-48936G>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55161156-G-A |
c.89-48823G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55161746-T-C |
c.89-48233T>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55162011-C-T |
c.89-47968C>T |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55162305-A-G |
c.89-47674A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55162336-T-C |
c.89-47643T>C |
- |
IntronicSNV |
- |
1/27 |
7 |
7-55163255-T-C |
c.89-46724T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55163737-C-G |
c.89-46242C>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55163737-C-T |
c.89-46242C>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55163867-G-A |
c.89-46112G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55168193-A-G |
c.89-41786A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55168692-A-G |
c.89-41287A>G |
- |
IntronicSNV |
- |
1/27 |
7 |
7-55168912-C-T |
c.89-41067C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55171190-G-A |
c.89-38789G>A |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55171629-A-G |
c.89-38350A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55172768-T-C |
c.89-37211T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55173675-C-G |
c.89-36304C>G |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55173675-C-T |
c.89-36304C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55174071-C-G |
c.89-35908C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55174342-C-A |
c.89-35637C>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55175876-A-G |
c.89-34103A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55177869-C-T |
c.89-32110C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55178579-T-G |
c.89-31400T>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55179209-G-A |
c.89-30770G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55179209-G-T |
c.89-30770G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55179400-T-G |
c.89-30579T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55179844-G-A |
c.89-30135G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55179844-G-T |
c.89-30135G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55180110-C-A |
c.89-29869C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55181442-G-A |
c.89-28537G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55181442-G-T |
c.89-28537G>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55185890-C-T |
c.89-24089C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55187992-G-A |
c.89-21987G>A |
- |
IntronicSNV |
- |
1/27 |
8 |
7-55189215-G-T |
c.89-20764G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55192256-A-C |
c.89-17723A>C |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55192963-T-G |
c.89-17016T>G |
- |
IntronicSNV |
- |
1/27 |
8 |
7-55195344-A-T |
c.89-14635A>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55195625-G-A |
c.89-14354G>A |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55197390-C-T |
c.89-12589C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55200512-G-A |
c.89-9467G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55200512-G-T |
c.89-9467G>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55201776-G-A |
c.89-8203G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55201776-G-C |
c.89-8203G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55202598-G-A |
c.89-7381G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55203838-G-A |
c.89-6141G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55203838-G-C |
c.89-6141G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55205930-A-T |
c.89-4049A>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55209637-C-A |
c.89-342C>A |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55209979-T-C |
c.89T>C |
p.V30A |
Missense |
2/28 |
- |
2 |
7-55209979-GTTTGCCAAGGCACGAGTAACAAGCTCACGCAGTTGGGCACTTTTGAAGATCATTTTCTC-G |
c.89_147del |
p.V30Efs*8 |
Unclassified |
2/28 |
- |
3 |
7-55209981-TTGC-T |
c.91_93del |
p.C31del |
InFrameDeletion |
2/28 |
- |
1 |
7-55209981-TTGCCAAGGCACGAGTAACAAG-T |
c.91_111del |
p.C31_K37del |
InFrameDeletion |
2/28 |
- |
1 |
7-55209981-TG-AC |
c.91_92delinsAC |
p.C31T |
Missense |
2/28 |
- |
1 |
7-55209981-TGC-GAG |
c.91_93delinsGAG |
p.C31E |
Missense |
2/28 |
- |
2 |
7-55209981-T-A |
c.91T>A |
p.C31S |
Missense |
2/28 |
- |
1 |
7-55209982-G-C |
c.92G>C |
p.C31S |
Missense |
2/28 |
- |
1 |
7-55209982-TG-T |
c.92del |
p.C31Sfs*49 |
Frameshift |
2/28 |
- |
1 |
7-55209983-C-T |
c.93C>T |
p.C31= |
Synonymous |
2/28 |
- |
1 |
7-55209984-CAA-AAC |
c.94_96delinsAAC |
p.Q32N |
Missense |
2/28 |
- |
1 |
7-55209984-CA-GC |
c.94_95delinsGC |
p.Q32A |
Missense |
2/28 |
- |
1 |
7-55209985-A-G |
c.95A>G |
p.Q32R |
Missense |
2/28 |
- |
1 |
7-55209987-G-A |
c.97G>A |
p.G33S |
Missense |
2/28 |
- |
4 |
7-55209987-GGC-AAG |
c.97_99delinsAAG |
p.G33K |
Missense |
2/28 |
- |
2 |
7-55209987-GG-AA |
c.97_98delinsAA |
p.G33N |
Missense |
2/28 |
- |
1 |
7-55209988-G-A |
c.98G>A |
p.G33D |
Missense |
2/28 |
- |
3 |
7-55209990-A-G |
c.100A>G |
p.T34A |
Missense |
2/28 |
- |
9 |
7-55209990-ACG-TGT |
c.100_102delinsTGT |
p.T34C |
Missense |
2/28 |
- |
1 |
7-55209991-CG-AC |
c.101_102delinsAC |
p.T34N |
Missense |
2/28 |
- |
4 |
7-55209991-C-T |
c.101C>T |
p.T34M |
Missense |
2/28 |
- |
1 |
7-55209991-C-G |
c.101C>G |
p.T34R |
Missense |
2/28 |
- |
1 |
7-55209993-AG-GC |
c.103_104delinsGC |
p.S35A |
Missense |
2/28 |
- |
4 |
7-55209993-AG-GA |
c.103_104delinsGA |
p.S35D |
Missense |
2/28 |
- |
2 |
7-55209993-A-T |
c.103A>T |
p.S35C |
Missense |
2/28 |
- |
1 |
7-55209994-G-A |
c.104G>A |
p.S35N |
Missense |
2/28 |
- |
2 |
7-55209996-AAC-CAA |
c.106_108delinsCAA |
p.N36Q |
Missense |
2/28 |
- |
1 |
7-55210000-AG-TC |
c.110_111delinsTC |
p.K37I |
Missense |
2/28 |
- |
1 |
7-55210000-A-T |
c.110A>T |
p.K37M |
Missense |
2/28 |
- |
2 |
7-55210000-A-G |
c.110A>G |
p.K37R |
Missense |
2/28 |
- |
1 |
7-55210002-CT-GA |
c.112_113delinsGA |
p.L38D |
Missense |
2/28 |
- |
1 |
7-55210002-C-T |
c.112C>T |
p.L38F |
Missense |
2/28 |
- |
1 |
7-55210005-A-G |
c.115A>G |
p.T39A |
Missense |
2/28 |
- |
1 |
7-55210006-CG-AC |
c.116_117delinsAC |
p.T39N |
Missense |
2/28 |
- |
2 |
7-55210006-C-T |
c.116C>T |
p.T39M |
Missense |
2/28 |
- |
2 |
7-55210008-C-A |
c.118C>A |
p.Q40K |
Missense |
2/28 |
- |
1 |
7-55210009-A-C |
c.119A>C |
p.Q40P |
Missense |
2/28 |
- |
4 |
7-55210010-AG-A |
c.120del |
p.Q40Hfs*40 |
Frameshift |
2/28 |
- |
1 |
7-55210010-G-T |
c.120G>T |
p.Q40H |
Missense |
2/28 |
- |
1 |
7-55210010-G-C |
c.120G>C |
p.Q40H |
Missense |
2/28 |
- |
1 |
7-55210011-TT-GA |
c.121_122delinsGA |
p.L41E |
Missense |
2/28 |
- |
1 |
7-55210012-T-G |
c.122T>G |
p.L41W |
Missense |
2/28 |
- |
1 |
7-55210014-GGC-TGG |
c.124_126delinsTGG |
p.G42W |
Missense |
2/28 |
- |
2 |
7-55210015-G-A |
c.125G>A |
p.G42D |
Missense |
2/28 |
- |
1 |
7-55210015-G-T |
c.125G>T |
p.G42V |
Missense |
2/28 |
- |
1 |
7-55210017-AC-GA |
c.127_128delinsGA |
p.T43D |
Missense |
2/28 |
- |
1 |
7-55210017-A-G |
c.127A>G |
p.T43A |
Missense |
2/28 |
- |
1 |
7-55210020-TT-GA |
c.130_131delinsGA |
p.F44D |
Missense |
2/28 |
- |
1 |
7-55210020-TTT-GAG |
c.130_132delinsGAG |
p.F44E |
Missense |
2/28 |
- |
1 |
7-55210020-TT-GC |
c.130_131delinsGC |
p.F44A |
Missense |
2/28 |
- |
1 |
7-55210021-T-G |
c.131T>G |
p.F44C |
Missense |
2/28 |
- |
1 |
7-55210022-T-C |
c.132T>C |
p.F44= |
Synonymous |
2/28 |
- |
1 |
7-55210023-G-A |
c.133G>A |
p.E45K |
Missense |
2/28 |
- |
1 |
7-55210024-A-C |
c.134A>C |
p.E45A |
Missense |
2/28 |
- |
1 |
7-55210026-G-A |
c.136G>A |
p.D46N |
Missense |
2/28 |
- |
4 |
7-55210026-GA-AC |
c.136_137delinsAC |
p.D46T |
Missense |
2/28 |
- |
1 |
7-55210026-GA-TG |
c.136_137delinsTG |
p.D46C |
Missense |
2/28 |
- |
1 |
7-55210026-G-T |
c.136G>T |
p.D46Y |
Missense |
2/28 |
- |
1 |
7-55210028-T-G |
c.138T>G |
p.D46E |
Missense |
2/28 |
- |
1 |
7-55210028-T-A |
c.138T>A |
p.D46E |
Missense |
2/28 |
- |
1 |
7-55210028-T-C |
c.138T>C |
p.D46= |
Synonymous |
2/28 |
- |
2 |
7-55210029-C-T |
c.139C>T |
p.H47Y |
Missense |
2/28 |
- |
2 |
7-55210029-CA-TG |
c.139_140inv |
p.H47C |
Missense |
2/28 |
- |
1 |
7-55210030-A-G |
c.140A>G |
p.H47R |
Missense |
2/28 |
- |
2 |
7-55210032-TT-GC |
c.142_143delinsGC |
p.F48A |
Missense |
2/28 |
- |
1 |
7-55210032-TTT-CAA |
c.142_144delinsCAA |
p.F48Q |
Missense |
2/28 |
- |
1 |
7-55210032-TT-GA |
c.142_143delinsGA |
p.F48D |
Missense |
2/28 |
- |
1 |
7-55210033-T-A |
c.143T>A |
p.F48Y |
Missense |
2/28 |
- |
1 |
7-55210035-C-T |
c.145C>T |
p.L49F |
Missense |
2/28 |
- |
1 |
7-55210038-AGC-GAG |
c.148_150delinsGAG |
p.S50E |
Missense |
2/28 |
- |
1 |
7-55210038-AG-GC |
c.148_149delinsGC |
p.S50A |
Missense |
2/28 |
- |
1 |
7-55210038-AG-CC |
c.148_149delinsCC |
p.S50P |
Missense |
2/28 |
- |
1 |
7-55210039-GC-AG |
c.149_150delinsAG |
p.S50K |
Missense |
2/28 |
- |
2 |
7-55210039-G-A |
c.149G>A |
p.S50N |
Missense |
2/28 |
- |
1 |
7-55210040-C-G |
c.150C>G |
p.S50R |
Missense |
2/28 |
- |
1 |
7-55210040-C-A |
c.150C>A |
p.S50R |
Missense |
2/28 |
- |
1 |
7-55210038-A-C |
c.148A>C |
p.S50R |
Missense |
2/28 |
- |
1 |
7-55210042-T-C |
c.152T>C |
p.L51P |
Missense |
2/28 |
- |
1 |
7-55210044-C-T |
c.154C>T |
p.Q52* |
Nonsense |
2/28 |
- |
1 |
7-55210047-AG-CA |
c.157_158delinsCA |
p.R53Q |
Missense |
2/28 |
- |
1 |
7-55210049-G-C |
c.159G>C |
p.R53S |
Missense |
2/28 |
- |
1 |
7-55210049-G-T |
c.159G>T |
p.R53S |
Missense |
2/28 |
- |
2 |
7-55210050-AT-GG |
c.160_161delinsGG |
p.M54G |
Missense |
2/28 |
- |
1 |
7-55210051-TG-GC |
c.161_162delinsGC |
p.M54S |
Missense |
2/28 |
- |
1 |
7-55210052-G-C |
c.162G>C |
p.M54I |
Missense |
2/28 |
- |
1 |
7-55210052-G-A |
c.162G>A |
p.M54I |
Missense |
2/28 |
- |
1 |
7-55210052-G-T |
c.162G>T |
p.M54I |
Missense |
2/28 |
- |
1 |
7-55210053-TT-GA |
c.163_164delinsGA |
p.F55D |
Missense |
2/28 |
- |
1 |
7-55210053-TT-GC |
c.163_164delinsGC |
p.F55A |
Missense |
2/28 |
- |
1 |
7-55210052-GT-G |
c.164del |
p.F55Sfs*25 |
Frameshift |
2/28 |
- |
1 |
7-55210054-T-G |
c.164T>G |
p.F55C |
Missense |
2/28 |
- |
2 |
7-55210055-C-CT |
c.165_166insT |
p.N56* |
Nonsense |
2/28 |
- |
1 |
7-55210058-T-G |
c.168T>G |
p.N56K |
Missense |
2/28 |
- |
4 |
7-55210058-T-A |
c.168T>A |
p.N56K |
Missense |
2/28 |
- |
4 |
7-55210061-C-T |
c.171C>T |
p.N57= |
Synonymous |
2/28 |
- |
1 |
7-55210062-T-A |
c.172T>A |
p.C58S |
Missense |
2/28 |
- |
1 |
7-55210063-G-C |
c.173G>C |
p.C58S |
Missense |
2/28 |
- |
1 |
7-55210062-TG-GA |
c.172_173delinsGA |
p.C58D |
Missense |
2/28 |
- |
2 |
7-55210062-TG-GC |
c.172_173delinsGC |
p.C58A |
Missense |
2/28 |
- |
3 |
7-55210062-TGT-GAG |
c.172_174delinsGAG |
p.C58E |
Missense |
2/28 |
- |
1 |
7-55210064-T-C |
c.174T>C |
p.C58= |
Synonymous |
2/28 |
- |
2 |
7-55210065-G-A |
c.175G>A |
p.E59K |
Missense |
2/28 |
- |
1 |
7-55210067-G-C |
c.177G>C |
p.E59D |
Missense |
2/28 |
- |
1 |
7-55210067-G-T |
c.177G>T |
p.E59D |
Missense |
2/28 |
- |
1 |
7-55210069-T-A |
c.179T>A |
p.V60E |
Missense |
2/28 |
- |
1 |
7-55210071-G-T |
c.181G>T |
p.V61F |
Missense |
2/28 |
- |
1 |
7-55210072-T-C |
c.182T>C |
p.V61A |
Missense |
2/28 |
- |
1 |
7-55210074-C-T |
c.184C>T |
p.L62F |
Missense |
2/28 |
- |
1 |
7-55210075-T-G |
c.185T>G |
p.L62R |
Missense |
2/28 |
- |
25 |
7-55210075-T-C |
c.185T>C |
p.L62P |
Missense |
2/28 |
- |
1 |
7-55210077-G-A |
c.187G>A |
p.G63R |
Missense |
2/28 |
- |
5 |
7-55210077-G-C |
c.187G>C |
p.G63R |
Missense |
2/28 |
- |
6 |
7-55210077-GG-AA |
c.187_188delinsAA |
p.G63K |
Missense |
2/28 |
- |
1 |
7-55210078-G-A |
c.188G>A |
p.G63E |
Missense |
2/28 |
- |
1 |
7-55210081-A-C |
c.191A>C |
p.N64T |
Missense |
2/28 |
- |
1 |
7-55210083-TTG-CAT |
c.193_195delinsCAT |
p.L65H |
Missense |
2/28 |
- |
1 |
7-55210083-TT-AC |
c.193_194delinsAC |
p.L65T |
Missense |
2/28 |
- |
1 |
7-55210083-TT-GC |
c.193_194delinsGC |
p.L65A |
Missense |
2/28 |
- |
1 |
7-55210084-T-C |
c.194T>C |
p.L65S |
Missense |
2/28 |
- |
1 |
7-55210086-G-A |
c.196G>A |
p.E66K |
Missense |
2/28 |
- |
1 |
7-55210087-A-C |
c.197A>C |
p.E66A |
Missense |
2/28 |
- |
2 |
7-55210088-A-G |
c.198A>G |
p.E66= |
Synonymous |
2/28 |
- |
1 |
7-55210091-T-C |
c.201T>C |
p.I67= |
Synonymous |
2/28 |
- |
3 |
7-55210091-T-A |
c.201T>A |
p.I67= |
Synonymous |
2/28 |
- |
3 |
7-55210092-AC-TT |
c.202_203delinsTT |
p.T68F |
Missense |
2/28 |
- |
2 |
7-55210092-ACC-GAG |
c.202_204delinsGAG |
p.T68E |
Missense |
2/28 |
- |
1 |
7-55210093-C-T |
c.203C>T |
p.T68I |
Missense |
2/28 |
- |
2 |
7-55210093-CC-TG |
c.203_204delinsTG |
p.T68M |
Missense |
2/28 |
- |
1 |
7-55210094-C-A |
c.204C>A |
p.T68= |
Synonymous |
2/28 |
- |
1 |
7-55210098-G-C |
c.208G>C |
p.V70L |
Missense |
2/28 |
- |
1 |
7-55210098-G-T |
c.208G>T |
p.V70L |
Missense |
2/28 |
- |
1 |
7-55210098-GTG-TTT |
c.208_210delinsTTT |
p.V70F |
Missense |
2/28 |
- |
1 |
7-55210098-GTG-TGT |
c.208_210delinsTGT |
p.V70C |
Missense |
2/28 |
- |
1 |
7-55210099-T-C |
c.209T>C |
p.V70A |
Missense |
2/28 |
- |
2 |
7-55210102-A-T |
c.212A>T |
p.Q71L |
Missense |
2/28 |
- |
9 |
7-55210103-G-C |
c.213G>C |
p.Q71H |
Missense |
2/28 |
- |
1 |
7-55210104-AG-CC |
c.214_215delinsCC |
p.R72P |
Missense |
2/28 |
- |
31 |
7-55210104-AG-GC |
c.214_215delinsGC |
p.R72A |
Missense |
2/28 |
- |
2 |
7-55210105-G-C |
c.215G>C |
p.R72T |
Missense |
2/28 |
- |
2 |
7-55210110-TA-GC |
c.220_221delinsGC |
p.Y74A |
Missense |
2/28 |
- |
1 |
7-55210111-A-G |
c.221A>G |
p.Y74C |
Missense |
2/28 |
- |
1 |
7-55210112-T-C |
c.222T>C |
p.Y74= |
Synonymous |
2/28 |
- |
2 |
7-55210113-GA-TT |
c.223_224delinsTT |
p.D75F |
Missense |
2/28 |
- |
1 |
7-55210115-T-C |
c.225T>C |
p.D75= |
Synonymous |
2/28 |
- |
2 |
7-55210116-C-G |
c.226C>G |
p.L76V |
Missense |
2/28 |
- |
2 |
7-55210117-T-C |
c.227T>C |
p.L76P |
Missense |
2/28 |
- |
1 |
7-55210119-T-G |
c.229T>G |
p.S77A |
Missense |
2/28 |
- |
1 |
7-55210120-C-T |
c.230C>T |
p.S77F |
Missense |
2/28 |
- |
1 |
7-55210122-TTC-GAG |
c.232_234delinsGAG |
p.F78E |
Missense |
2/28 |
- |
1 |
7-55210124-C-G |
c.234C>G |
p.F78L |
Missense |
2/28 |
- |
1 |
7-55210124-C-T |
c.234C>T |
p.F78= |
Synonymous |
2/28 |
- |
1 |
7-55210125-T-C |
c.235T>C |
p.L79= |
Synonymous |
2/28 |
- |
1 |
7-55210125-T-G |
c.235T>G |
p.L79V |
Missense |
2/28 |
- |
1 |
7-55210126-T-A |
c.236T>A |
p.L79* |
Nonsense |
2/28 |
- |
1 |
7-55210126-T-G |
c.236T>G |
p.L79* |
Nonsense |
2/28 |
- |
1 |
7-55210128-AA-GC |
c.238_239delinsGC |
p.K80A |
Missense |
2/28 |
- |
1 |
7-55210129-A-C |
c.239A>C |
p.K80T |
Missense |
2/28 |
- |
1 |
7-55210129-A-G |
c.239A>G |
p.K80R |
Missense |
2/28 |
- |
1 |
7-55210998-AC-TG |
c.241_242delinsTG |
p.T81C |
Missense |
3/28 |
- |
1 |
7-55210998-AC-GA |
c.241_242delinsGA |
p.T81D |
Missense |
3/28 |
- |
1 |
7-55211001-AT-GC |
c.244_245delinsGC |
p.I82A |
Missense |
3/28 |
- |
1 |
7-55211004-C-T |
c.247C>T |
p.Q83* |
Nonsense |
3/28 |
- |
1 |
7-55211007-G-A |
c.250G>A |
p.E84K |
Missense |
3/28 |
- |
1 |
7-55211008-A-T |
c.251A>T |
p.E84V |
Missense |
3/28 |
- |
4 |
7-55211008-A-C |
c.251A>C |
p.E84A |
Missense |
3/28 |
- |
1 |
7-55211013-G-A |
c.256G>A |
p.A86T |
Missense |
3/28 |
- |
1 |
7-55211013-GC-TT |
c.256_257delinsTT |
p.A86F |
Missense |
3/28 |
- |
2 |
7-55211013-GCT-ATG |
c.256_258delinsATG |
p.A86M |
Missense |
3/28 |
- |
1 |
7-55211013-GCT-TAA |
c.256_258delinsTAA |
p.A86* |
Nonsense |
3/28 |
- |
1 |
7-55211013-GCT-AAG |
c.256_258delinsAAG |
p.A86K |
Missense |
3/28 |
- |
1 |
7-55211014-C-A |
c.257C>A |
p.A86D |
Missense |
3/28 |
- |
3 |
7-55211014-CT-AG |
c.257_258inv |
p.A86E |
Missense |
3/28 |
- |
3 |
7-55211015-T-C |
c.258T>C |
p.A86= |
Synonymous |
3/28 |
- |
1 |
7-55211015-T-A |
c.258T>A |
p.A86= |
Synonymous |
3/28 |
- |
1 |
7-55211015-T-G |
c.258T>G |
p.A86= |
Synonymous |
3/28 |
- |
1 |
7-55211017-G-T |
c.260G>T |
p.G87V |
Missense |
3/28 |
- |
1 |
7-55211019-TA-GC |
c.262_263delinsGC |
p.Y88A |
Missense |
3/28 |
- |
1 |
7-55211020-A-G |
c.263A>G |
p.Y88C |
Missense |
3/28 |
- |
4 |
7-55211022-G-C |
c.265G>C |
p.V89L |
Missense |
3/28 |
- |
3 |
7-55211022-GTC-ATG |
c.265_267delinsATG |
p.V89M |
Missense |
3/28 |
- |
2 |
7-55211025-CTC-ATG |
c.268_270delinsATG |
p.L90M |
Missense |
3/28 |
- |
1 |
7-55211025-C-T |
c.268C>T |
p.L90F |
Missense |
3/28 |
- |
3 |
7-55211026-T-A |
c.269T>A |
p.L90H |
Missense |
3/28 |
- |
1 |
7-55211031-G-A |
c.274G>A |
p.A92T |
Missense |
3/28 |
- |
1 |
7-55211031-GC-TT |
c.274_275delinsTT |
p.A92F |
Missense |
3/28 |
- |
3 |
7-55211031-GC-TG |
c.274_275delinsTG |
p.A92C |
Missense |
3/28 |
- |
1 |
7-55211032-CC-AG |
c.275_276delinsAG |
p.A92E |
Missense |
3/28 |
- |
3 |
7-55211032-C-A |
c.275C>A |
p.A92D |
Missense |
3/28 |
- |
4 |
7-55211032-C-T |
c.275C>T |
p.A92V |
Missense |
3/28 |
- |
1 |
7-55211033-C-A |
c.276C>A |
p.A92= |
Synonymous |
3/28 |
- |
2 |
7-55211033-C-G |
c.276C>G |
p.A92= |
Synonymous |
3/28 |
- |
2 |
7-55211033-C-T |
c.276C>T |
p.A92= |
Synonymous |
3/28 |
- |
2 |
7-55211034-C-A |
c.277C>A |
p.L93I |
Missense |
3/28 |
- |
1 |
7-55211035-CT-C |
c.278del |
p.L93Pfs*27 |
Frameshift |
3/28 |
- |
1 |
7-55211035-T-G |
c.278T>G |
p.L93R |
Missense |
3/28 |
- |
1 |
7-55211038-A-G |
c.281A>G |
p.N94S |
Missense |
3/28 |
- |
1 |
7-55211040-A-G |
c.283A>G |
p.T95A |
Missense |
3/28 |
- |
1 |
7-55211040-A-C |
c.283A>C |
p.T95P |
Missense |
3/28 |
- |
1 |
7-55211041-C-T |
c.284C>T |
p.T95I |
Missense |
3/28 |
- |
3 |
7-55211041-CA-TG |
c.284_285inv |
p.T95M |
Missense |
3/28 |
- |
1 |
7-55211043-GTG-ATC |
c.286_288delinsATC |
p.V96I |
Missense |
3/28 |
- |
1 |
7-55211043-GT-AC |
c.286_287inv |
p.V96T |
Missense |
3/28 |
- |
1 |
7-55211043-G-A |
c.286G>A |
p.V96M |
Missense |
3/28 |
- |
1 |
7-55211044-T-C |
c.287T>C |
p.V96A |
Missense |
3/28 |
- |
1 |
7-55211046-G-A |
c.289G>A |
p.E97K |
Missense |
3/28 |
- |
1 |
7-55211046-G-C |
c.289G>C |
p.E97Q |
Missense |
3/28 |
- |
1 |
7-55211046-GAG-TTT |
c.289_291delinsTTT |
p.E97F |
Missense |
3/28 |
- |
1 |
7-55211047-A-C |
c.290A>C |
p.E97A |
Missense |
3/28 |
- |
1 |
7-55211048-G-C |
c.291G>C |
p.E97D |
Missense |
3/28 |
- |
1 |
7-55211048-G-T |
c.291G>T |
p.E97D |
Missense |
3/28 |
- |
1 |
7-55211049-CGA-TGG |
c.292_294delinsTGG |
p.R98W |
Missense |
3/28 |
- |
1 |
7-55211049-C-T |
c.292C>T |
p.R98* |
Nonsense |
3/28 |
- |
4 |
7-55211049-CGA-TGT |
c.292_294delinsTGT |
p.R98C |
Missense |
3/28 |
- |
1 |
7-55211049-C-A |
c.292C>A |
p.R98= |
Synonymous |
3/28 |
- |
1 |
7-55211051-A-C |
c.294A>C |
p.R98= |
Synonymous |
3/28 |
- |
1 |
7-55211051-A-G |
c.294A>G |
p.R98= |
Synonymous |
3/28 |
- |
1 |
7-55211051-A-T |
c.294A>T |
p.R98= |
Synonymous |
3/28 |
- |
1 |
7-55211050-G-A |
c.293G>A |
p.R98Q |
Missense |
3/28 |
- |
6 |
7-55211050-G-T |
c.293G>T |
p.R98L |
Missense |
3/28 |
- |
2 |
7-55211055-C-G |
c.298C>G |
p.P100A |
Missense |
3/28 |
- |
4 |
7-55211055-C-T |
c.298C>T |
p.P100S |
Missense |
3/28 |
- |
2 |
7-55211055-C-A |
c.298C>A |
p.P100T |
Missense |
3/28 |
- |
1 |
7-55211055-CCT-AAG |
c.298_300delinsAAG |
p.P100K |
Missense |
3/28 |
- |
1 |
7-55211056-C-T |
c.299C>T |
p.P100L |
Missense |
3/28 |
- |
1 |
7-55211057-T-C |
c.300T>C |
p.P100= |
Synonymous |
3/28 |
- |
1 |
7-55211057-T-G |
c.300T>G |
p.P100= |
Synonymous |
3/28 |
- |
1 |
7-55211059-TG-GT |
c.302_303delinsGT |
p.L101C |
Missense |
3/28 |
- |
1 |
7-55211060-G-T |
c.303G>T |
p.L101F |
Missense |
3/28 |
- |
1 |
7-55211060-G-C |
c.303G>C |
p.L101F |
Missense |
3/28 |
- |
1 |
7-55211062-A-C |
c.305A>C |
p.E102A |
Missense |
3/28 |
- |
1 |
7-55211064-AA-GC |
c.307_308delinsGC |
p.N103A |
Missense |
3/28 |
- |
1 |
7-55211067-C-G |
c.310C>G |
p.L104V |
Missense |
3/28 |
- |
1 |
7-55211067-CT-GA |
c.310_311delinsGA |
p.L104E |
Missense |
3/28 |
- |
1 |
7-55211067-C-T |
c.310C>T |
p.L104= |
Synonymous |
3/28 |
- |
1 |
7-55211068-T-G |
c.311T>G |
p.L104R |
Missense |
3/28 |
- |
1 |
7-55211068-T-A |
c.311T>A |
p.L104Q |
Missense |
3/28 |
- |
1 |
7-55211070-CAG-GAC |
c.313_315delinsGAC |
p.Q105D |
Missense |
3/28 |
- |
1 |
7-55211070-CAG-TGT |
c.313_315delinsTGT |
p.Q105C |
Missense |
3/28 |
- |
1 |
7-55211070-C-A |
c.313C>A |
p.Q105K |
Missense |
3/28 |
- |
2 |
7-55211076-A-G |
c.319A>G |
p.I107V |
Missense |
3/28 |
- |
2 |
7-55211076-A-T |
c.319A>T |
p.I107F |
Missense |
3/28 |
- |
1 |
7-55211079-A-G |
c.322A>G |
p.R108G |
Missense |
3/28 |
- |
8 |
7-55211079-AGA-CAT |
c.322_324delinsCAT |
p.R108H |
Missense |
3/28 |
- |
2 |
7-55211080-G-A |
c.323G>A |
p.R108K |
Missense |
3/28 |
- |
79 |
7-55211083-G-C |
c.326G>C |
p.G109A |
Missense |
3/28 |
- |
1 |
7-55211083-G-A |
c.326G>A |
p.G109E |
Missense |
3/28 |
- |
1 |
7-55211091-TAC-GAG |
c.334_336delinsGAG |
p.Y112E |
Missense |
3/28 |
- |
1 |
7-55211092-A-G |
c.335A>G |
p.Y112C |
Missense |
3/28 |
- |
1 |
7-55211092-A-T |
c.335A>T |
p.Y112F |
Missense |
3/28 |
- |
2 |
7-55211092-A-C |
c.335A>C |
p.Y112S |
Missense |
3/28 |
- |
1 |
7-55211095-TACGAAAATTCCTATGCCTTAGCAGTCTTATCTAACTATGATGCAAATAAAACCGGACTG-T |
c.339_397del |
p.Y113* |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
3/28 |
- |
1 |
7-55211095-A-T |
c.338A>T |
p.Y113F |
Missense |
3/28 |
- |
1 |
7-55211096-C-T |
c.339C>T |
p.Y113= |
Synonymous |
3/28 |
- |
2 |
7-55211097-G-A |
c.340G>A |
p.E114K |
Missense |
3/28 |
- |
15 |
7-55211097-G-C |
c.340G>C |
p.E114Q |
Missense |
3/28 |
- |
1 |
7-55211098-A-T |
c.341A>T |
p.E114V |
Missense |
3/28 |
- |
1 |
7-55211101-A-T |
c.344A>T |
p.N115I |
Missense |
3/28 |
- |
1 |
7-55211101-A-C |
c.344A>C |
p.N115T |
Missense |
3/28 |
- |
1 |
7-55211102-T-A |
c.345T>A |
p.N115K |
Missense |
3/28 |
- |
1 |
7-55211103-TC-GA |
c.346_347inv |
p.S116D |
Missense |
3/28 |
- |
1 |
7-55211103-T-G |
c.346T>G |
p.S116A |
Missense |
3/28 |
- |
1 |
7-55211104-C-T |
c.347C>T |
p.S116F |
Missense |
3/28 |
- |
3 |
7-55211106-TA-CT |
c.349_350delinsCT |
p.Y117L |
Missense |
3/28 |
- |
1 |
7-55211106-T-G |
c.349T>G |
p.Y117D |
Missense |
3/28 |
- |
1 |
7-55211107-A-G |
c.350A>G |
p.Y117C |
Missense |
3/28 |
- |
2 |
7-55211107-A-T |
c.350A>T |
p.Y117F |
Missense |
3/28 |
- |
1 |
7-55211109-G-C |
c.352G>C |
p.A118P |
Missense |
3/28 |
- |
1 |
7-55211110-C-G |
c.353C>G |
p.A118G |
Missense |
3/28 |
- |
4 |
7-55211110-C-T |
c.353C>T |
p.A118V |
Missense |
3/28 |
- |
2 |
7-55211112-TTA-ATG |
c.355_357delinsATG |
p.L119M |
Missense |
3/28 |
- |
1 |
7-55211113-T-C |
c.356T>C |
p.L119S |
Missense |
3/28 |
- |
1 |
7-55211115-G-C |
c.358G>C |
p.A120P |
Missense |
3/28 |
- |
1 |
7-55211116-C-A |
c.359C>A |
p.A120E |
Missense |
3/28 |
- |
1 |
7-55211118-G-T |
c.361G>T |
p.V121F |
Missense |
3/28 |
- |
1 |
7-55211121-TTATC-T |
c.367_370del |
p.S123Tfs*9 |
Frameshift |
3/28 |
- |
1 |
7-55211124-T-G |
c.367T>G |
p.S123A |
Missense |
3/28 |
- |
3 |
7-55211125-C-T |
c.368C>T |
p.S123F |
Missense |
3/28 |
- |
1 |
7-55211125-C-CTGA |
c.369_370insGAT |
p.S123_N124insD |
InFrameInsertion |
3/28 |
- |
1 |
7-55211129-C-G |
c.372C>G |
p.N124K |
Missense |
3/28 |
- |
2 |
7-55211129-C-A |
c.372C>A |
p.N124K |
Missense |
3/28 |
- |
2 |
7-55211131-A-G |
c.374A>G |
p.Y125C |
Missense |
3/28 |
- |
2 |
7-55211136-G-A |
c.379G>A |
p.A127T |
Missense |
3/28 |
- |
3 |
7-55211137-C-T |
c.380C>T |
p.A127V |
Missense |
3/28 |
- |
1 |
7-55211139-A-G |
c.382A>G |
p.N128D |
Missense |
3/28 |
- |
1 |
7-55211142-AA-GC |
c.385_386delinsGC |
p.K129A |
Missense |
3/28 |
- |
2 |
7-55211142-A-G |
c.385A>G |
p.K129E |
Missense |
3/28 |
- |
2 |
7-55211143-A-G |
c.386A>G |
p.K129R |
Missense |
3/28 |
- |
1 |
7-55211143-AA-TG |
c.386_387delinsTG |
p.K129M |
Missense |
3/28 |
- |
1 |
7-55211147-C-G |
c.390C>G |
p.T130= |
Synonymous |
3/28 |
- |
1 |
7-55211148-G-A |
c.391G>A |
p.G131R |
Missense |
3/28 |
- |
4 |
7-55211148-G-C |
c.391G>C |
p.G131R |
Missense |
3/28 |
- |
1 |
7-55211151-CT-GC |
c.394_395delinsGC |
p.L132A |
Missense |
3/28 |
- |
1 |
7-55211151-CTG-TGT |
c.394_396delinsTGT |
p.L132C |
Missense |
3/28 |
- |
1 |
7-55211154-AA-GC |
c.397_398delinsGC |
p.K133A |
Missense |
3/28 |
- |
5 |
7-55211157-G-A |
c.400G>A |
p.E134K |
Missense |
3/28 |
- |
1 |
7-55211160-CTG-TAT |
c.403_405delinsTAT |
p.L135Y |
Missense |
3/28 |
- |
2 |
7-55211163-C-A |
c.406C>A |
p.P136T |
Missense |
3/28 |
- |
1 |
7-55211164-C-T |
c.407C>T |
p.P136L |
Missense |
3/28 |
- |
1 |
7-55211166-A-G |
c.409A>G |
p.M137V |
Missense |
3/28 |
- |
1 |
7-55211167-T-G |
c.410T>G |
p.M137R |
Missense |
3/28 |
- |
2 |
7-55211168-G-C |
c.411G>C |
p.M137I |
Missense |
3/28 |
- |
2 |
7-55211168-G-A |
c.411G>A |
p.M137I |
Missense |
3/28 |
- |
2 |
7-55211168-G-T |
c.411G>T |
p.M137I |
Missense |
3/28 |
- |
2 |
7-55211169-AGA-TGG |
c.412_414delinsTGG |
p.R138W |
Missense |
3/28 |
- |
1 |
7-55211169-A-T |
c.412A>T |
p.R138* |
Nonsense |
3/28 |
- |
1 |
7-55211169-AG-GT |
c.412_413delinsGT |
p.R138V |
Missense |
3/28 |
- |
1 |
7-55211170-G-T |
c.413G>T |
p.R138I |
Missense |
3/28 |
- |
1 |
7-55211170-G-A |
c.413G>A |
p.R138K |
Missense |
3/28 |
- |
1 |
7-55211178-C-T |
c.421C>T |
p.Q141* |
Nonsense |
3/28 |
- |
3 |
7-55211178-CA-AC |
c.421_422delinsAC |
p.Q141T |
Missense |
3/28 |
- |
1 |
7-55211181-G-T |
c.424G>T |
p.E142* |
Nonsense |
3/28 |
- |
2 |
7-55211316-G-A |
c.424+135G>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211879-A-G |
c.424+698A>G |
- |
IntronicSNV |
- |
3/27 |
2 |
7-55214304-CT-GC |
c.430_431delinsGC |
p.L144A |
Missense |
4/28 |
- |
1 |
7-55214304-C-T |
c.430C>T |
p.L144= |
Synonymous |
4/28 |
- |
1 |
7-55214308-A-G |
c.434A>G |
p.H145R |
Missense |
4/28 |
- |
1 |
7-55214310-GG-CC |
c.436_437inv |
p.G146P |
Missense |
4/28 |
- |
1 |
7-55214311-G-T |
c.437G>T |
p.G146V |
Missense |
4/28 |
- |
1 |
7-55214313-G-C |
c.439G>C |
p.A147P |
Missense |
4/28 |
- |
1 |
7-55214313-G-A |
c.439G>A |
p.A147T |
Missense |
4/28 |
- |
1 |
7-55214314-C-A |
c.440C>A |
p.A147D |
Missense |
4/28 |
- |
1 |
7-55214315-C-A |
c.441C>A |
p.A147= |
Synonymous |
4/28 |
- |
1 |
7-55214315-C-G |
c.441C>G |
p.A147= |
Synonymous |
4/28 |
- |
1 |
7-55214315-C-T |
c.441C>T |
p.A147= |
Synonymous |
4/28 |
- |
1 |
7-55214316-G-A |
c.442G>A |
p.V148M |
Missense |
4/28 |
- |
1 |
7-55214319-C-T |
c.445C>T |
p.R149W |
Missense |
4/28 |
- |
4 |
7-55214320-G-A |
c.446G>A |
p.R149Q |
Missense |
4/28 |
- |
2 |
7-55214324-C-T |
c.450C>T |
p.F150= |
Synonymous |
4/28 |
- |
1 |
7-55214325-AG-GC |
c.451_452delinsGC |
p.S151A |
Missense |
4/28 |
- |
3 |
7-55214325-AG-GA |
c.451_452delinsGA |
p.S151D |
Missense |
4/28 |
- |
1 |
7-55214330-C-G |
c.456C>G |
p.N152K |
Missense |
4/28 |
- |
1 |
7-55214338-C-T |
c.464C>T |
p.A155V |
Missense |
4/28 |
- |
1 |
7-55214340-CT-GC |
c.466_467delinsGC |
p.L156A |
Missense |
4/28 |
- |
1 |
7-55214344-G-C |
c.470G>C |
p.C157S |
Missense |
4/28 |
- |
1 |
7-55214343-T-A |
c.469T>A |
p.C157S |
Missense |
4/28 |
- |
1 |
7-55214343-TG-AC |
c.469_470delinsAC |
p.C157T |
Missense |
4/28 |
- |
1 |
7-55214344-G-A |
c.470G>A |
p.C157Y |
Missense |
4/28 |
- |
1 |
7-55214346-AA-GG |
c.472_473delinsGG |
p.N158G |
Missense |
4/28 |
- |
1 |
7-55214346-A-G |
c.472A>G |
p.N158D |
Missense |
4/28 |
- |
1 |
7-55214347-A-G |
c.473A>G |
p.N158S |
Missense |
4/28 |
- |
1 |
7-55214348-C-T |
c.474C>T |
p.N158= |
Synonymous |
4/28 |
- |
24 |
7-55214348-CG-TC |
c.474_475delinsTC |
p.V159L |
Missense |
4/28 |
- |
1 |
7-55214350-T-A |
c.476T>A |
p.V159E |
Missense |
4/28 |
- |
1 |
7-55214352-GAG-TGT |
c.478_480delinsTGT |
p.E160C |
Missense |
4/28 |
- |
1 |
7-55214352-G-T |
c.478G>T |
p.E160* |
Nonsense |
4/28 |
- |
1 |
7-55214354-G-A |
c.480G>A |
p.E160= |
Synonymous |
4/28 |
- |
1 |
7-55214358-A-T |
c.484A>T |
p.I162F |
Missense |
4/28 |
- |
1 |
7-55214360-C-G |
c.486C>G |
p.I162M |
Missense |
4/28 |
- |
1 |
7-55214361-CAG-GAC |
c.487_489delinsGAC |
p.Q163D |
Missense |
4/28 |
- |
1 |
7-55214362-A-T |
c.488A>T |
p.Q163L |
Missense |
4/28 |
- |
1 |
7-55214367-CGG-AGC |
c.493_495delinsAGC |
p.R165S |
Missense |
4/28 |
- |
3 |
7-55214367-C-G |
c.493C>G |
p.R165G |
Missense |
4/28 |
- |
1 |
7-55214367-CGG-TGT |
c.493_495delinsTGT |
p.R165C |
Missense |
4/28 |
- |
1 |
7-55214367-CG-GA |
c.493_494delinsGA |
p.R165E |
Missense |
4/28 |
- |
1 |
7-55214367-C-T |
c.493C>T |
p.R165W |
Missense |
4/28 |
- |
2 |
7-55214367-CG-AA |
c.493_494delinsAA |
p.R165K |
Missense |
4/28 |
- |
1 |
7-55214368-GG-AT |
c.494_495delinsAT |
p.R165H |
Missense |
4/28 |
- |
1 |
7-55214368-G-T |
c.494G>T |
p.R165L |
Missense |
4/28 |
- |
1 |
7-55214368-G-A |
c.494G>A |
p.R165Q |
Missense |
4/28 |
- |
3 |
7-55214374-T-C |
c.500T>C |
p.I167T |
Missense |
4/28 |
- |
1 |
7-55214379-AG-CC |
c.505_506delinsCC |
p.S169P |
Missense |
4/28 |
- |
1 |
7-55214379-AG-GC |
c.505_506delinsGC |
p.S169A |
Missense |
4/28 |
- |
1 |
7-55214379-AGC-GAG |
c.505_507delinsGAG |
p.S169E |
Missense |
4/28 |
- |
1 |
7-55214380-G-A |
c.506G>A |
p.S169N |
Missense |
4/28 |
- |
1 |
7-55214383-G-A |
c.509G>A |
p.S170N |
Missense |
4/28 |
- |
1 |
7-55214385-GA-AG |
c.511_512delinsAG |
p.D171S |
Missense |
4/28 |
- |
1 |
7-55214385-G-A |
c.511G>A |
p.D171N |
Missense |
4/28 |
- |
1 |
7-55214387-C-T |
c.513C>T |
p.D171= |
Synonymous |
4/28 |
- |
1 |
7-55214394-AG-GC |
c.520_521delinsGC |
p.S174A |
Missense |
4/28 |
- |
1 |
7-55214394-A-T |
c.520A>T |
p.S174C |
Missense |
4/28 |
- |
1 |
7-55214394-A-C |
c.520A>C |
p.S174R |
Missense |
4/28 |
- |
1 |
7-55214396-C-G |
c.522C>G |
p.S174R |
Missense |
4/28 |
- |
1 |
7-55214396-C-A |
c.522C>A |
p.S174R |
Missense |
4/28 |
- |
1 |
7-55214397-AAC-CAA |
c.523_525delinsCAA |
p.N175Q |
Missense |
4/28 |
- |
2 |
7-55214399-C-G |
c.525C>G |
p.N175K |
Missense |
4/28 |
- |
1 |
7-55214399-C-A |
c.525C>A |
p.N175K |
Missense |
4/28 |
- |
1 |
7-55214403-GT-G |
c.529del |
p.S177Rfs*34 |
Frameshift |
4/28 |
- |
1 |
7-55214403-TC-GA |
c.529_530inv |
p.S177E |
Missense |
4/28 |
- |
1 |
7-55214403-T-G |
c.529T>G |
p.S177A |
Missense |
4/28 |
- |
2 |
7-55214403-GTCGATGGACTTCCAGAAC-G |
c.529_546del |
p.S177_N182del |
InFrameDeletion |
4/28 |
- |
1 |
7-55214404-C-G |
c.530C>G |
p.S177W |
Missense |
4/28 |
- |
1 |
7-55214404-C-T |
c.530C>T |
p.S177L |
Missense |
4/28 |
- |
1 |
7-55214404-C-A |
c.530C>A |
p.S177* |
Nonsense |
4/28 |
- |
1 |
7-55214405-G-A |
c.531G>A |
p.S177= |
Synonymous |
4/28 |
- |
1 |
7-55214406-A-C |
c.532A>C |
p.M178L |
Missense |
4/28 |
- |
1 |
7-55214406-A-T |
c.532A>T |
p.M178L |
Missense |
4/28 |
- |
1 |
7-55214410-A-G |
c.536A>G |
p.D179G |
Missense |
4/28 |
- |
1 |
7-55214413-T-C |
c.539T>C |
p.F180S |
Missense |
4/28 |
- |
1 |
7-55214415-C-A |
c.541C>A |
p.Q181K |
Missense |
4/28 |
- |
2 |
7-55214415-CA-AC |
c.541_542delinsAC |
p.Q181T |
Missense |
4/28 |
- |
1 |
7-55214416-A-G |
c.542A>G |
p.Q181R |
Missense |
4/28 |
- |
1 |
7-55214417-G-T |
c.543G>T |
p.Q181H |
Missense |
4/28 |
- |
1 |
7-55214417-G-C |
c.543G>C |
p.Q181H |
Missense |
4/28 |
- |
1 |
7-55214418-AAC-CAA |
c.544_546delinsCAA |
p.N182Q |
Missense |
4/28 |
- |
3 |
7-55214422-A-G |
c.548A>G |
p.H183R |
Missense |
4/28 |
- |
1 |
7-55214423-C-A |
c.549C>A |
p.H183Q |
Missense |
4/28 |
- |
1 |
7-55214424-C-G |
c.550C>G |
p.L184V |
Missense |
4/28 |
- |
1 |
7-55214427-G-C |
c.553G>C |
p.G185R |
Missense |
4/28 |
- |
1 |
7-55214430-AG-GC |
c.556_557delinsGC |
p.S186A |
Missense |
4/28 |
- |
1 |
7-55214433-T-C |
c.559T>C |
p.C187R |
Missense |
4/28 |
- |
1 |
7-55214443-G-A |
c.559+10G>A |
- |
IntronicSNV |
- |
4/27 |
4 |
7-55214474-T-G |
c.559+41T>G |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214647-G-T |
c.559+214G>T |
- |
IntronicSNV |
- |
4/27 |
2 |
7-55215018-A-C |
c.559+585A>C |
- |
IntronicSNV |
- |
4/27 |
12 |
7-55215661-C-T |
c.559+1228C>T |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55218903-T-C |
c.560-84T>C |
- |
IntronicSNV |
- |
4/27 |
4 |
7-55218992-AA-GC |
c.565_566delinsGC |
p.K189A |
Missense |
5/28 |
- |
1 |
7-55218993-A-G |
c.566A>G |
p.K189R |
Missense |
5/28 |
- |
1 |
7-55218994-G-C |
c.567G>C |
p.K189N |
Missense |
5/28 |
- |
1 |
7-55218994-G-T |
c.567G>T |
p.K189N |
Missense |
5/28 |
- |
1 |
7-55218998-G-A |
c.571G>A |
p.D191N |
Missense |
5/28 |
- |
1 |
7-55219001-C-T |
c.574C>T |
p.P192S |
Missense |
5/28 |
- |
2 |
7-55219007-T-A |
c.580T>A |
p.C194S |
Missense |
5/28 |
- |
2 |
7-55219008-G-C |
c.581G>C |
p.C194S |
Missense |
5/28 |
- |
2 |
7-55219007-TG-AC |
c.580_581delinsAC |
p.C194T |
Missense |
5/28 |
- |
1 |
7-55219007-TG-GC |
c.580_581delinsGC |
p.C194A |
Missense |
5/28 |
- |
1 |
7-55219011-C-T |
c.584C>T |
p.P195L |
Missense |
5/28 |
- |
1 |
7-55219013-A-G |
c.586A>G |
p.N196D |
Missense |
5/28 |
- |
1 |
7-55219019-AGC-GAG |
c.592_594delinsGAG |
p.S198E |
Missense |
5/28 |
- |
1 |
7-55219022-T-A |
c.595T>A |
p.C199S |
Missense |
5/28 |
- |
2 |
7-55219023-G-C |
c.596G>C |
p.C199S |
Missense |
5/28 |
- |
2 |
7-55219022-TG-GT |
c.595_596delinsGT |
p.C199V |
Missense |
5/28 |
- |
1 |
7-55219026-G-T |
c.599G>T |
p.W200L |
Missense |
5/28 |
- |
1 |
7-55219032-C-G |
c.605C>G |
p.A202G |
Missense |
5/28 |
- |
1 |
7-55219034-G-A |
c.607G>A |
p.G203R |
Missense |
5/28 |
- |
7 |
7-55219034-G-C |
c.607G>C |
p.G203R |
Missense |
5/28 |
- |
7 |
7-55219034-GG-AC |
c.607_608delinsAC |
p.G203T |
Missense |
5/28 |
- |
1 |
7-55219034-GGA-TGT |
c.607_609delinsTGT |
p.G203C |
Missense |
5/28 |
- |
1 |
7-55219035-G-C |
c.608G>C |
p.G203A |
Missense |
5/28 |
- |
1 |
7-55219035-G-A |
c.608G>A |
p.G203E |
Missense |
5/28 |
- |
1 |
7-55219040-G-A |
c.613G>A |
p.E205K |
Missense |
5/28 |
- |
1 |
7-55219051-G-A |
c.624G>A |
p.Q208= |
Synonymous |
5/28 |
- |
1 |
7-55219056-G-A |
c.628+1G>A |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219056-G-T |
c.628+1G>T |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219159-C-G |
c.628+104C>G |
- |
IntronicSNV |
- |
5/27 |
6 |
7-55219159-C-T |
c.628+104C>T |
- |
IntronicSNV |
- |
5/27 |
7 |
7-55219290-T-A |
c.628+235T>A |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219290-T-C |
c.628+235T>C |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219307-C-G |
c.628+252C>G |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219611-A-G |
c.628+556A>G |
- |
IntronicSNV |
- |
5/27 |
3 |
7-55220177-A-G |
c.629-62A>G |
- |
IntronicSNV |
- |
5/27 |
7 |
7-55220239-T-A |
c.629T>A |
p.L210Q |
Missense |
6/28 |
- |
1 |
7-55220242-C-G |
c.632C>G |
p.T211S |
Missense |
6/28 |
- |
1 |
7-55220248-AT-A |
c.638del |
p.I213Tfs*67 |
Frameshift |
6/28 |
- |
1 |
7-55220253-TG-GC |
c.643_644delinsGC |
p.C215A |
Missense |
6/28 |
- |
1 |
7-55220253-T-A |
c.643T>A |
p.C215S |
Missense |
6/28 |
- |
2 |
7-55220254-G-C |
c.644G>C |
p.C215S |
Missense |
6/28 |
- |
2 |
7-55220253-T-G |
c.643T>G |
p.C215G |
Missense |
6/28 |
- |
1 |
7-55220256-G-A |
c.646G>A |
p.A216T |
Missense |
6/28 |
- |
1 |
7-55220257-C-G |
c.647C>G |
p.A216G |
Missense |
6/28 |
- |
1 |
7-55220258-C-G |
c.648C>G |
p.A216= |
Synonymous |
6/28 |
- |
1 |
7-55220258-C-T |
c.648C>T |
p.A216= |
Synonymous |
6/28 |
- |
1 |
7-55220258-C-A |
c.648C>A |
p.A216= |
Synonymous |
6/28 |
- |
1 |
7-55220260-A-C |
c.650A>C |
p.Q217P |
Missense |
6/28 |
- |
1 |
7-55220263-CAGT-C |
c.653_655del |
p.Q218_C219delinsR |
MultiAAMissense |
6/28 |
- |
1 |
7-55220265-T-G |
c.655T>G |
p.C219G |
Missense |
6/28 |
- |
1 |
7-55220265-T-C |
c.655T>C |
p.C219R |
Missense |
6/28 |
- |
1 |
7-55220268-T-C |
c.658T>C |
p.S220P |
Missense |
6/28 |
- |
1 |
7-55220268-TCC-GAG |
c.658_660delinsGAG |
p.S220E |
Missense |
6/28 |
- |
2 |
7-55220269-C-T |
c.659C>T |
p.S220F |
Missense |
6/28 |
- |
1 |
7-55220270-CG-C |
c.663del |
p.R222Afs*58 |
Frameshift |
6/28 |
- |
1 |
7-55220274-C-T |
c.664C>T |
p.R222C |
Missense |
6/28 |
- |
22 |
7-55220274-CG-AA |
c.664_665delinsAA |
p.R222N |
Missense |
6/28 |
- |
1 |
7-55220274-CG-GC |
c.664_665delinsGC |
p.R222A |
Missense |
6/28 |
- |
1 |
7-55220274-CGC-TGA |
c.664_666delinsTGA |
p.R222* |
Nonsense |
6/28 |
- |
1 |
7-55220275-G-A |
c.665G>A |
p.R222H |
Missense |
6/28 |
- |
1 |
7-55220276-C-A |
c.666C>A |
p.R222= |
Synonymous |
6/28 |
- |
2 |
7-55220276-C-G |
c.666C>G |
p.R222= |
Synonymous |
6/28 |
- |
2 |
7-55220276-C-T |
c.666C>T |
p.R222= |
Synonymous |
6/28 |
- |
2 |
7-55220277-TGC-GAG |
c.667_669delinsGAG |
p.C223E |
Missense |
6/28 |
- |
2 |
7-55220277-T-C |
c.667T>C |
p.C223R |
Missense |
6/28 |
- |
2 |
7-55220278-G-A |
c.668G>A |
p.C223Y |
Missense |
6/28 |
- |
1 |
7-55220280-C-T |
c.670C>T |
p.R224C |
Missense |
6/28 |
- |
1 |
7-55220281-G-A |
c.671G>A |
p.R224H |
Missense |
6/28 |
- |
1 |
7-55220281-GT-AA |
c.671_672delinsAA |
p.R224Q |
Missense |
6/28 |
- |
1 |
7-55220284-G-A |
c.674G>A |
p.G225D |
Missense |
6/28 |
- |
1 |
7-55220284-G-T |
c.674G>T |
p.G225V |
Missense |
6/28 |
- |
1 |
7-55220284-G-C |
c.674G>C |
p.G225A |
Missense |
6/28 |
- |
1 |
7-55220289-T-G |
c.679T>G |
p.S227A |
Missense |
6/28 |
- |
1 |
7-55220290-C-T |
c.680C>T |
p.S227F |
Missense |
6/28 |
- |
1 |
7-55220290-C-A |
c.680C>A |
p.S227Y |
Missense |
6/28 |
- |
1 |
7-55220291-C-T |
c.681C>T |
p.S227= |
Synonymous |
6/28 |
- |
1 |
7-55220291-C-G |
c.681C>G |
p.S227= |
Synonymous |
6/28 |
- |
1 |
7-55220291-C-A |
c.681C>A |
p.S227= |
Synonymous |
6/28 |
- |
1 |
7-55220292-C-T |
c.682C>T |
p.P228S |
Missense |
6/28 |
- |
2 |
7-55220292-CCC-GAG |
c.682_684delinsGAG |
p.P228E |
Missense |
6/28 |
- |
1 |
7-55220293-C-G |
c.683C>G |
p.P228R |
Missense |
6/28 |
- |
1 |
7-55220293-C-A |
c.683C>A |
p.P228H |
Missense |
6/28 |
- |
1 |
7-55220295-A-T |
c.685A>T |
p.S229C |
Missense |
6/28 |
- |
7 |
7-55220295-AGT-GAG |
c.685_687delinsGAG |
p.S229E |
Missense |
6/28 |
- |
1 |
7-55220295-AG-CC |
c.685_686delinsCC |
p.S229P |
Missense |
6/28 |
- |
1 |
7-55220295-AG-GA |
c.685_686delinsGA |
p.S229D |
Missense |
6/28 |
- |
2 |
7-55220295-AG-GC |
c.685_686delinsGC |
p.S229A |
Missense |
6/28 |
- |
2 |
7-55220302-G-C |
c.692G>C |
p.C231S |
Missense |
6/28 |
- |
1 |
7-55220302-G-A |
c.692G>A |
p.C231Y |
Missense |
6/28 |
- |
1 |
7-55220307-CAC-ATG |
c.697_699delinsATG |
p.H233M |
Missense |
6/28 |
- |
1 |
7-55220308-A-C |
c.698A>C |
p.H233P |
Missense |
6/28 |
- |
1 |
7-55220311-A-G |
c.701A>G |
p.N234S |
Missense |
6/28 |
- |
1 |
7-55220313-CAG-GAC |
c.703_705delinsGAC |
p.Q235D |
Missense |
6/28 |
- |
1 |
7-55220316-T-C |
c.706T>C |
p.C236R |
Missense |
6/28 |
- |
1 |
7-55220316-TG-GC |
c.706_707delinsGC |
p.C236A |
Missense |
6/28 |
- |
1 |
7-55220317-G-C |
c.707G>C |
p.C236S |
Missense |
6/28 |
- |
1 |
7-55220317-G-T |
c.707G>T |
p.C236F |
Missense |
6/28 |
- |
1 |
7-55220318-T-G |
c.708T>G |
p.C236W |
Missense |
6/28 |
- |
1 |
7-55220319-GC-AA |
c.709_710delinsAA |
p.A237N |
Missense |
6/28 |
- |
1 |
7-55220320-C-T |
c.710C>T |
p.A237V |
Missense |
6/28 |
- |
1 |
7-55220325-GG-AC |
c.715_716delinsAC |
p.G239T |
Missense |
6/28 |
- |
1 |
7-55220326-G-C |
c.716G>C |
p.G239A |
Missense |
6/28 |
- |
1 |
7-55220328-T-C |
c.718T>C |
p.C240R |
Missense |
6/28 |
- |
2 |
7-55220329-G-A |
c.719G>A |
p.C240Y |
Missense |
6/28 |
- |
1 |
7-55220332-C-T |
c.722C>T |
p.T241I |
Missense |
6/28 |
- |
1 |
7-55220332-CA-TG |
c.722_723inv |
p.T241M |
Missense |
6/28 |
- |
2 |
7-55220335-G-A |
c.725G>A |
p.G242D |
Missense |
6/28 |
- |
1 |
7-55220335-G-T |
c.725G>T |
p.G242V |
Missense |
6/28 |
- |
2 |
7-55220337-C-T |
c.727C>T |
p.P243S |
Missense |
6/28 |
- |
1 |
7-55220338-C-G |
c.728C>G |
p.P243R |
Missense |
6/28 |
- |
1 |
7-55220335-GC-G |
c.730del |
p.R244Gfs*36 |
Frameshift |
6/28 |
- |
1 |
7-55220340-CGG-TGT |
c.730_732delinsTGT |
p.R244C |
Missense |
6/28 |
- |
1 |
7-55220340-C-T |
c.730C>T |
p.R244W |
Missense |
6/28 |
- |
1 |
7-55220340-CG-GC |
c.730_731delinsGC |
p.R244A |
Missense |
6/28 |
- |
1 |
7-55220344-A-G |
c.734A>G |
p.E245G |
Missense |
6/28 |
- |
1 |
7-55220345-G-GT |
c.735_736insT |
p.S246* |
Nonsense |
6/28 |
- |
1 |
7-55220346-AG-TT |
c.736_737delinsTT |
p.S246F |
Missense |
6/28 |
- |
1 |
7-55220348-C-G |
c.738C>G |
p.S246R |
Missense |
6/28 |
- |
1 |
7-55220348-C-A |
c.738C>A |
p.S246R |
Missense |
6/28 |
- |
1 |
7-55220346-A-C |
c.736A>C |
p.S246R |
Missense |
6/28 |
- |
1 |
7-55220349-G-T |
c.739G>T |
p.D247Y |
Missense |
6/28 |
- |
3 |
7-55220349-G-A |
c.739G>A |
p.D247N |
Missense |
6/28 |
- |
1 |
7-55220349-G-C |
c.739G>C |
p.D247H |
Missense |
6/28 |
- |
1 |
7-55220350-A-G |
c.740A>G |
p.D247G |
Missense |
6/28 |
- |
1 |
7-55220353-G-A |
c.743G>A |
p.C248Y |
Missense |
6/28 |
- |
1 |
7-55220355-CTG-ATC |
c.745_747delinsATC |
p.L249I |
Missense |
6/28 |
- |
1 |
7-55220358-G-T |
c.747+1G>T |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55220370-T-C |
c.747+13T>C |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55220905-C-T |
c.747+548C>T |
- |
IntronicSNV |
- |
6/27 |
3 |
7-55221167-A-G |
c.748-537A>G |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55221447-C-G |
c.748-257C>G |
- |
IntronicSNV |
- |
6/27 |
2 |
7-55221655-G-A |
c.748-49G>A |
- |
IntronicSNV |
- |
6/27 |
11 |
7-55221710-C-T |
c.754C>T |
p.R252C |
Missense |
7/28 |
- |
8 |
7-55221710-CG-GA |
c.754_755delinsGA |
p.R252D |
Missense |
7/28 |
- |
1 |
7-55221711-G-T |
c.755G>T |
p.R252L |
Missense |
7/28 |
- |
1 |
7-55221711-G-A |
c.755G>A |
p.R252H |
Missense |
7/28 |
- |
3 |
7-55221711-G-C |
c.755G>C |
p.R252P |
Missense |
7/28 |
- |
6 |
7-55221713-AA-GC |
c.757_758delinsGC |
p.K253A |
Missense |
7/28 |
- |
1 |
7-55221714-A-G |
c.758A>G |
p.K253R |
Missense |
7/28 |
- |
2 |
7-55221715-A-C |
c.759A>C |
p.K253N |
Missense |
7/28 |
- |
1 |
7-55221715-A-T |
c.759A>T |
p.K253N |
Missense |
7/28 |
- |
1 |
7-55221713-AAATTCCGAG-A |
c.759_767del |
p.K253_D256delinsN |
MultiAAMissense |
7/28 |
- |
1 |
7-55221716-T-A |
c.760T>A |
p.F254I |
Missense |
7/28 |
- |
7 |
7-55221716-T-C |
c.760T>C |
p.F254L |
Missense |
7/28 |
- |
1 |
7-55221718-C-A |
c.762C>A |
p.F254L |
Missense |
7/28 |
- |
1 |
7-55221718-C-G |
c.762C>G |
p.F254L |
Missense |
7/28 |
- |
1 |
7-55221717-T-C |
c.761T>C |
p.F254S |
Missense |
7/28 |
- |
3 |
7-55221719-C-T |
c.763C>T |
p.R255* |
Nonsense |
7/28 |
- |
3 |
7-55221720-G-A |
c.764G>A |
p.R255Q |
Missense |
7/28 |
- |
5 |
7-55221722-G-T |
c.766G>T |
p.D256Y |
Missense |
7/28 |
- |
5 |
7-55221723-A-G |
c.767A>G |
p.D256G |
Missense |
7/28 |
- |
2 |
7-55221725-G-A |
c.769G>A |
p.E257K |
Missense |
7/28 |
- |
3 |
7-55221726-A-C |
c.770A>C |
p.E257A |
Missense |
7/28 |
- |
1 |
7-55221728-G-C |
c.772G>C |
p.A258P |
Missense |
7/28 |
- |
1 |
7-55221731-A-G |
c.775A>G |
p.T259A |
Missense |
7/28 |
- |
1 |
7-55221732-C-T |
c.776C>T |
p.T259M |
Missense |
7/28 |
- |
3 |
7-55221735-G-A |
c.779G>A |
p.C260Y |
Missense |
7/28 |
- |
2 |
7-55221736-C-A |
c.780C>A |
p.C260* |
Nonsense |
7/28 |
- |
1 |
7-55221739-G-C |
c.783G>C |
p.K261N |
Missense |
7/28 |
- |
1 |
7-55221739-G-T |
c.783G>T |
p.K261N |
Missense |
7/28 |
- |
1 |
7-55221741-A-C |
c.785A>C |
p.D262A |
Missense |
7/28 |
- |
3 |
7-55221743-A-C |
c.787A>C |
p.T263P |
Missense |
7/28 |
- |
40 |
7-55221741-ACAC-A |
c.787_789del |
p.T263del |
InFrameDeletion |
7/28 |
- |
1 |
7-55221743-A-G |
c.787A>G |
p.T263A |
Missense |
7/28 |
- |
1 |
7-55221744-C-T |
c.788C>T |
p.T263I |
Missense |
7/28 |
- |
2 |
7-55221746-TG-GC |
c.790_791delinsGC |
p.C264A |
Missense |
7/28 |
- |
1 |
7-55221746-TG-AT |
c.790_791delinsAT |
p.C264I |
Missense |
7/28 |
- |
1 |
7-55221747-G-A |
c.791G>A |
p.C264Y |
Missense |
7/28 |
- |
1 |
7-55221749-C-G |
c.793C>G |
p.P265A |
Missense |
7/28 |
- |
1 |
7-55221750-C-T |
c.794C>T |
p.P265L |
Missense |
7/28 |
- |
1 |
7-55221750-C-A |
c.794C>A |
p.P265H |
Missense |
7/28 |
- |
1 |
7-55221753-C-G |
c.797C>G |
p.P266R |
Missense |
7/28 |
- |
1 |
7-55221756-T-G |
c.800T>G |
p.L267R |
Missense |
7/28 |
- |
1 |
7-55221759-T-C |
c.803T>C |
p.M268T |
Missense |
7/28 |
- |
1 |
7-55221761-CTC-ATG |
c.805_807delinsATG |
p.L269M |
Missense |
7/28 |
- |
1 |
7-55221765-A-G |
c.809A>G |
p.Y270C |
Missense |
7/28 |
- |
4 |
7-55221770-C-T |
c.814C>T |
p.P272S |
Missense |
7/28 |
- |
1 |
7-55221771-C-T |
c.815C>T |
p.P272L |
Missense |
7/28 |
- |
2 |
7-55221771-C-A |
c.815C>A |
p.P272H |
Missense |
7/28 |
- |
1 |
7-55221772-C-A |
c.816C>A |
p.P272= |
Synonymous |
7/28 |
- |
1 |
7-55221773-A-C |
c.817A>C |
p.T273P |
Missense |
7/28 |
- |
1 |
7-55221773-AC-CA |
c.817_818delinsCA |
p.T273H |
Missense |
7/28 |
- |
1 |
7-55221773-A-G |
c.817A>G |
p.T273A |
Missense |
7/28 |
- |
1 |
7-55221774-C-G |
c.818C>G |
p.T273S |
Missense |
7/28 |
- |
1 |
7-55221773-A-T |
c.817A>T |
p.T273S |
Missense |
7/28 |
- |
1 |
7-55221774-C-T |
c.818C>T |
p.T273I |
Missense |
7/28 |
- |
2 |
7-55221777-CG-TC |
c.821_822delinsTC |
p.T274I |
Missense |
7/28 |
- |
2 |
7-55221778-G-A |
c.822G>A |
p.T274= |
Synonymous |
7/28 |
- |
1 |
7-55221780-A-T |
c.824A>T |
p.Y275F |
Missense |
7/28 |
- |
2 |
7-55221780-A-C |
c.824A>C |
p.Y275S |
Missense |
7/28 |
- |
1 |
7-55221782-C-T |
c.826C>T |
p.Q276* |
Nonsense |
7/28 |
- |
1 |
7-55221783-A-G |
c.827A>G |
p.Q276R |
Missense |
7/28 |
- |
2 |
7-55221783-A-T |
c.827A>T |
p.Q276L |
Missense |
7/28 |
- |
3 |
7-55221784-G-T |
c.828G>T |
p.Q276H |
Missense |
7/28 |
- |
2 |
7-55221784-G-C |
c.828G>C |
p.Q276H |
Missense |
7/28 |
- |
1 |
7-55221785-AT-GA |
c.829_830delinsGA |
p.M277E |
Missense |
7/28 |
- |
6 |
7-55221788-G-A |
c.832G>A |
p.D278N |
Missense |
7/28 |
- |
1 |
7-55221789-A-T |
c.833A>T |
p.D278V |
Missense |
7/28 |
- |
1 |
7-55221793-G-T |
c.837G>T |
p.V279= |
Synonymous |
7/28 |
- |
1 |
7-55221793-G-C |
c.837G>C |
p.V279= |
Synonymous |
7/28 |
- |
1 |
7-55221793-G-A |
c.837G>A |
p.V279= |
Synonymous |
7/28 |
- |
1 |
7-55221793-GA-CG |
c.837_838delinsCG |
p.N280D |
Missense |
7/28 |
- |
1 |
7-55221797-C-A |
c.841C>A |
p.P281T |
Missense |
7/28 |
- |
1 |
7-55221797-C-G |
c.841C>G |
p.P281A |
Missense |
7/28 |
- |
1 |
7-55221798-C-T |
c.842C>T |
p.P281L |
Missense |
7/28 |
- |
1 |
7-55221800-G-A |
c.844G>A |
p.E282K |
Missense |
7/28 |
- |
7 |
7-55221802-G-T |
c.846G>T |
p.E282D |
Missense |
7/28 |
- |
1 |
7-55221803-G-A |
c.847G>A |
p.G283S |
Missense |
7/28 |
- |
1 |
7-55221803-G-T |
c.847G>T |
p.G283C |
Missense |
7/28 |
- |
1 |
7-55221804-G-A |
c.848G>A |
p.G283D |
Missense |
7/28 |
- |
1 |
7-55221804-G-C |
c.848G>C |
p.G283A |
Missense |
7/28 |
- |
1 |
7-55221810-A-G |
c.854A>G |
p.Y285C |
Missense |
7/28 |
- |
3 |
7-55221810-A-T |
c.854A>T |
p.Y285F |
Missense |
7/28 |
- |
1 |
7-55221812-AGC-GAG |
c.856_858delinsGAG |
p.S286E |
Missense |
7/28 |
- |
1 |
7-55221814-C-G |
c.858C>G |
p.S286R |
Missense |
7/28 |
- |
1 |
7-55221814-C-A |
c.858C>A |
p.S286R |
Missense |
7/28 |
- |
1 |
7-55221812-A-C |
c.856A>C |
p.S286R |
Missense |
7/28 |
- |
1 |
7-55221815-T-C |
c.859T>C |
p.F287L |
Missense |
7/28 |
- |
1 |
7-55221817-T-A |
c.861T>A |
p.F287L |
Missense |
7/28 |
- |
1 |
7-55221817-T-TCATGCA |
c.861_862insCATGCA |
p.F287_G288insHA |
InFrameInsertion |
7/28 |
- |
1 |
7-55221818-G-A |
c.862G>A |
p.G288S |
Missense |
7/28 |
- |
1 |
7-55221819-G-T |
c.863G>T |
p.G288V |
Missense |
7/28 |
- |
1 |
7-55221817-TG-T |
c.863del |
p.G288Vfs*5 |
Frameshift |
7/28 |
- |
1 |
7-55221820-T-C |
c.864T>C |
p.G288= |
Synonymous |
7/28 |
- |
1 |
7-55221821-GCC-TAA |
c.865_867delinsTAA |
p.A289* |
Nonsense |
7/28 |
- |
3 |
7-55221821-G-A |
c.865G>A |
p.A289T |
Missense |
7/28 |
- |
27 |
7-55221821-GC-AA |
c.865_866delinsAA |
p.A289N |
Missense |
7/28 |
- |
2 |
7-55221821-GC-AT |
c.865_866delinsAT |
p.A289I |
Missense |
7/28 |
- |
2 |
7-55221821-G-C |
c.865G>C |
p.A289P |
Missense |
7/28 |
- |
1 |
7-55221822-C-A |
c.866C>A |
p.A289D |
Missense |
7/28 |
- |
35 |
7-55221822-C-T |
c.866C>T |
p.A289V |
Missense |
7/28 |
- |
111 |
7-55221822-C-G |
c.866C>G |
p.A289G |
Missense |
7/28 |
- |
1 |
7-55221823-C-A |
c.867C>A |
p.A289= |
Synonymous |
7/28 |
- |
1 |
7-55221823-C-G |
c.867C>G |
p.A289= |
Synonymous |
7/28 |
- |
1 |
7-55221823-C-T |
c.867C>T |
p.A289= |
Synonymous |
7/28 |
- |
1 |
7-55221825-CC-TG |
c.869_870delinsTG |
p.T290M |
Missense |
7/28 |
- |
3 |
7-55221825-C-T |
c.869C>T |
p.T290I |
Missense |
7/28 |
- |
1 |
7-55221828-G-A |
c.872G>A |
p.C291Y |
Missense |
7/28 |
- |
1 |
7-55221830-G-C |
c.874G>C |
p.V292L |
Missense |
7/28 |
- |
6 |
7-55221830-G-T |
c.874G>T |
p.V292L |
Missense |
7/28 |
- |
6 |
7-55221830-G-A |
c.874G>A |
p.V292M |
Missense |
7/28 |
- |
2 |
7-55221831-T-C |
c.875T>C |
p.V292A |
Missense |
7/28 |
- |
1 |
7-55221832-G-A |
c.876G>A |
p.V292= |
Synonymous |
7/28 |
- |
1 |
7-55221834-A-C |
c.878A>C |
p.K293T |
Missense |
7/28 |
- |
1 |
7-55221836-A-G |
c.880A>G |
p.K294E |
Missense |
7/28 |
- |
1 |
7-55221836-GAA-G |
c.880_881del |
p.K294Vfs*4 |
Frameshift |
7/28 |
- |
1 |
7-55221837-A-G |
c.881A>G |
p.K294R |
Missense |
7/28 |
- |
1 |
7-55221839-T-C |
c.883T>C |
p.C295R |
Missense |
7/28 |
- |
1 |
7-55221839-TG-GC |
c.883_884delinsGC |
p.C295A |
Missense |
7/28 |
- |
1 |
7-55221840-G-A |
c.884G>A |
p.C295Y |
Missense |
7/28 |
- |
1 |
7-55221842-C-T |
c.886C>T |
p.P296S |
Missense |
7/28 |
- |
1 |
7-55221845-C-T |
c.889C>T |
p.R297C |
Missense |
7/28 |
- |
2 |
7-55221846-G-A |
c.889+1G>A |
- |
IntronicSNV |
- |
7/27 |
3 |
7-55221848-G-A |
c.889+3G>A |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221855-C-T |
c.889+10C>T |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221859-T-C |
c.889+14T>C |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221879-A-G |
c.889+34A>G |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221883-A-G |
c.889+38A>G |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221898-T-C |
c.889+53T>C |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55222954-G-A |
c.890-569G>A |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55223176-G-A |
c.890-347G>A |
- |
IntronicSNV |
- |
7/27 |
3 |
7-55223525-AA-GC |
c.892_893delinsGC |
p.N298A |
Missense |
8/28 |
- |
4 |
7-55223527-T-G |
c.894T>G |
p.N298K |
Missense |
8/28 |
- |
1 |
7-55223529-A-T |
c.896A>T |
p.Y299F |
Missense |
8/28 |
- |
1 |
7-55223531-G-C |
c.898G>C |
p.V300L |
Missense |
8/28 |
- |
1 |
7-55223531-G-A |
c.898G>A |
p.V300M |
Missense |
8/28 |
- |
1 |
7-55223532-T-A |
c.899T>A |
p.V300E |
Missense |
8/28 |
- |
1 |
7-55223530-TGTG-T |
c.901_903del |
p.V301del |
InFrameDeletion |
8/28 |
- |
1 |
7-55223534-G-T |
c.901G>T |
p.V301L |
Missense |
8/28 |
- |
1 |
7-55223537-ACA-TGT |
c.904_906inv |
p.T302C |
Missense |
8/28 |
- |
1 |
7-55223537-ACA-CAC |
c.904_906delinsCAC |
p.T302H |
Missense |
8/28 |
- |
1 |
7-55223537-ACA-CAT |
c.904_906delinsCAT |
p.T302H |
Missense |
8/28 |
- |
1 |
7-55223540-G-C |
c.907G>C |
p.D303H |
Missense |
8/28 |
- |
1 |
7-55223540-G-A |
c.907G>A |
p.D303N |
Missense |
8/28 |
- |
2 |
7-55223541-A-T |
c.908A>T |
p.D303V |
Missense |
8/28 |
- |
1 |
7-55223543-C-T |
c.910C>T |
p.H304Y |
Missense |
8/28 |
- |
5 |
7-55223549-T-G |
c.916T>G |
p.S306A |
Missense |
8/28 |
- |
1 |
7-55223549-TCG-ATC |
c.916_918delinsATC |
p.S306I |
Missense |
8/28 |
- |
1 |
7-55223550-C-T |
c.917C>T |
p.S306L |
Missense |
8/28 |
- |
7 |
7-55223554-C-T |
c.921C>T |
p.C307= |
Synonymous |
8/28 |
- |
2 |
7-55223555-GTC-ATG |
c.922_924delinsATG |
p.V308M |
Missense |
8/28 |
- |
1 |
7-55223555-GT-AG |
c.922_923delinsAG |
p.V308S |
Missense |
8/28 |
- |
1 |
7-55223558-C-T |
c.925C>T |
p.R309* |
Nonsense |
8/28 |
- |
3 |
7-55223558-CG-GC |
c.925_926delinsGC |
p.R309A |
Missense |
8/28 |
- |
1 |
7-55223564-T-A |
c.931T>A |
p.C311S |
Missense |
8/28 |
- |
1 |
7-55223565-G-T |
c.932G>T |
p.C311F |
Missense |
8/28 |
- |
1 |
7-55223567-G-T |
c.934G>T |
p.G312W |
Missense |
8/28 |
- |
2 |
7-55223567-GGG-AGC |
c.934_936delinsAGC |
p.G312S |
Missense |
8/28 |
- |
1 |
7-55223571-C-G |
c.938C>G |
p.A313G |
Missense |
8/28 |
- |
1 |
7-55223574-A-C |
c.941A>C |
p.D314A |
Missense |
8/28 |
- |
4 |
7-55223577-G-A |
c.944G>A |
p.S315N |
Missense |
8/28 |
- |
2 |
7-55223577-G-C |
c.944G>C |
p.S315T |
Missense |
8/28 |
- |
1 |
7-55223578-C-T |
c.945C>T |
p.S315= |
Synonymous |
8/28 |
- |
1 |
7-55223580-A-T |
c.947A>T |
p.Y316F |
Missense |
8/28 |
- |
1 |
7-55223581-T-A |
c.948T>A |
p.Y316* |
Nonsense |
8/28 |
- |
1 |
7-55223581-T-G |
c.948T>G |
p.Y316* |
Nonsense |
8/28 |
- |
1 |
7-55223582-G-T |
c.949G>T |
p.E317* |
Nonsense |
8/28 |
- |
1 |
7-55223582-G-A |
c.949G>A |
p.E317K |
Missense |
8/28 |
- |
2 |
7-55223583-A-C |
c.950A>C |
p.E317A |
Missense |
8/28 |
- |
2 |
7-55223587-G-C |
c.954G>C |
p.M318I |
Missense |
8/28 |
- |
2 |
7-55223587-G-A |
c.954G>A |
p.M318I |
Missense |
8/28 |
- |
2 |
7-55223587-G-T |
c.954G>T |
p.M318I |
Missense |
8/28 |
- |
2 |
7-55223588-G-T |
c.955G>T |
p.E319* |
Nonsense |
8/28 |
- |
1 |
7-55223588-G-A |
c.955G>A |
p.E319K |
Missense |
8/28 |
- |
1 |
7-55223588-G-C |
c.955G>C |
p.E319Q |
Missense |
8/28 |
- |
1 |
7-55223589-A-G |
c.956A>G |
p.E319G |
Missense |
8/28 |
- |
1 |
7-55223591-G-C |
c.958G>C |
p.E320Q |
Missense |
8/28 |
- |
1 |
7-55223591-G-A |
c.958G>A |
p.E320K |
Missense |
8/28 |
- |
1 |
7-55223592-A-C |
c.959A>C |
p.E320A |
Missense |
8/28 |
- |
1 |
7-55223594-G-A |
c.961G>A |
p.D321N |
Missense |
8/28 |
- |
4 |
7-55223597-G-T |
c.964G>T |
p.G322C |
Missense |
8/28 |
- |
1 |
7-55223597-G-A |
c.964G>A |
p.G322S |
Missense |
8/28 |
- |
5 |
7-55223598-G-A |
c.965G>A |
p.G322D |
Missense |
8/28 |
- |
1 |
7-55223598-G-C |
c.965G>C |
p.G322A |
Missense |
8/28 |
- |
2 |
7-55223600-GT-AC |
c.967_968inv |
p.V323T |
Missense |
8/28 |
- |
1 |
7-55223600-GT-TG |
c.967_968delinsTG |
p.V323C |
Missense |
8/28 |
- |
1 |
7-55223600-G-C |
c.967G>C |
p.V323L |
Missense |
8/28 |
- |
1 |
7-55223600-GT-CA |
c.967_968delinsCA |
p.V323H |
Missense |
8/28 |
- |
1 |
7-55223600-GT-AG |
c.967_968delinsAG |
p.V323S |
Missense |
8/28 |
- |
1 |
7-55223600-G-A |
c.967G>A |
p.V323I |
Missense |
8/28 |
- |
1 |
7-55223601-T-G |
c.968T>G |
p.V323G |
Missense |
8/28 |
- |
1 |
7-55223601-TC-AG |
c.968_969delinsAG |
p.V323E |
Missense |
8/28 |
- |
1 |
7-55223601-T-A |
c.968T>A |
p.V323D |
Missense |
8/28 |
- |
1 |
7-55223601-T-C |
c.968T>C |
p.V323A |
Missense |
8/28 |
- |
1 |
7-55223603-C-T |
c.970C>T |
p.R324C |
Missense |
8/28 |
- |
3 |
7-55223603-CGC-GAG |
c.970_972delinsGAG |
p.R324E |
Missense |
8/28 |
- |
1 |
7-55223604-G-T |
c.971G>T |
p.R324L |
Missense |
8/28 |
- |
14 |
7-55223604-G-A |
c.971G>A |
p.R324H |
Missense |
8/28 |
- |
1 |
7-55223608-G-C |
c.975G>C |
p.K325N |
Missense |
8/28 |
- |
1 |
7-55223609-T-C |
c.976T>C |
p.C326R |
Missense |
8/28 |
- |
4 |
7-55223609-T-G |
c.976T>G |
p.C326G |
Missense |
8/28 |
- |
1 |
7-55223609-T-A |
c.976T>A |
p.C326S |
Missense |
8/28 |
- |
2 |
7-55223610-G-C |
c.977G>C |
p.C326S |
Missense |
8/28 |
- |
2 |
7-55223610-G-T |
c.977G>T |
p.C326F |
Missense |
8/28 |
- |
3 |
7-55223610-G-A |
c.977G>A |
p.C326Y |
Missense |
8/28 |
- |
1 |
7-55223612-A-G |
c.979A>G |
p.K327E |
Missense |
8/28 |
- |
2 |
7-55223614-G-T |
c.981G>T |
p.K327N |
Missense |
8/28 |
- |
1 |
7-55223614-G-C |
c.981G>C |
p.K327N |
Missense |
8/28 |
- |
2 |
7-55223617-G-C |
c.984G>C |
p.K328N |
Missense |
8/28 |
- |
1 |
7-55223618-T-C |
c.985T>C |
p.C329R |
Missense |
8/28 |
- |
2 |
7-55223620-C-A |
c.987C>A |
p.C329* |
Nonsense |
8/28 |
- |
1 |
7-55223621-G-A |
c.988G>A |
p.E330K |
Missense |
8/28 |
- |
12 |
7-55223624-GGG-AGC |
c.991_993delinsAGC |
p.G331S |
Missense |
8/28 |
- |
1 |
7-55223624-G-A |
c.991G>A |
p.G331R |
Missense |
8/28 |
- |
1 |
7-55223624-G-C |
c.991G>C |
p.G331R |
Missense |
8/28 |
- |
1 |
7-55223627-C-T |
c.994C>T |
p.P332S |
Missense |
8/28 |
- |
2 |
7-55223628-C-CT |
c.997dup |
p.C333Lfs*6 |
Frameshift |
8/28 |
- |
1 |
7-55223630-TG-CA |
c.997_998inv |
p.C333H |
Missense |
8/28 |
- |
1 |
7-55223633-CGC-TGG |
c.1000_1002delinsTGG |
p.R334W |
Missense |
8/28 |
- |
2 |
7-55223633-C-T |
c.1000C>T |
p.R334C |
Missense |
8/28 |
- |
2 |
7-55223634-G-A |
c.1001G>A |
p.R334H |
Missense |
8/28 |
- |
2 |
7-55223634-GC-AA |
c.1001_1002delinsAA |
p.R334Q |
Missense |
8/28 |
- |
2 |
7-55223634-G-T |
c.1001G>T |
p.R334L |
Missense |
8/28 |
- |
1 |
7-55223636-A-C |
c.1003A>C |
p.K335Q |
Missense |
8/28 |
- |
1 |
7-55223637-A-C |
c.1004A>C |
p.K335T |
Missense |
8/28 |
- |
1 |
7-55223637-AA-GC |
c.1004_1005delinsGC |
p.K335S |
Missense |
8/28 |
- |
1 |
7-55224119-C-T |
c.1007-107C>T |
- |
IntronicSNV |
- |
8/27 |
1 |
7-55224228-T-A |
c.1009T>A |
p.C337S |
Missense |
9/28 |
- |
1 |
7-55224229-G-C |
c.1010G>C |
p.C337S |
Missense |
9/28 |
- |
1 |
7-55224229-G-T |
c.1010G>T |
p.C337F |
Missense |
9/28 |
- |
1 |
7-55224235-GA-AC |
c.1016_1017delinsAC |
p.G339D |
Missense |
9/28 |
- |
1 |
7-55224237-A-G |
c.1018A>G |
p.I340V |
Missense |
9/28 |
- |
1 |
7-55224240-G-T |
c.1021G>T |
p.G341C |
Missense |
9/28 |
- |
1 |
7-55224244-TT-GG |
c.1025_1026delinsGG |
p.I342R |
Missense |
9/28 |
- |
1 |
7-55224247-G-A |
c.1028G>A |
p.G343D |
Missense |
9/28 |
- |
2 |
7-55224247-G-T |
c.1028G>T |
p.G343V |
Missense |
9/28 |
- |
1 |
7-55224247-G-C |
c.1028G>C |
p.G343A |
Missense |
9/28 |
- |
1 |
7-55224249-TGAA-T |
c.1030_1032del |
p.E344del |
InFrameDeletion |
9/28 |
- |
1 |
7-55224252-T-C |
c.1033T>C |
p.F345L |
Missense |
9/28 |
- |
2 |
7-55224254-T-A |
c.1035T>A |
p.F345L |
Missense |
9/28 |
- |
2 |
7-55224254-T-G |
c.1035T>G |
p.F345L |
Missense |
9/28 |
- |
2 |
7-55224255-AA-GC |
c.1036_1037delinsGC |
p.K346A |
Missense |
9/28 |
- |
1 |
7-55224262-CA-GT |
c.1043_1044delinsGT |
p.S348C |
Missense |
9/28 |
- |
1 |
7-55224264-C-T |
c.1045C>T |
p.L349F |
Missense |
9/28 |
- |
1 |
7-55224268-C-T |
c.1049C>T |
p.S350F |
Missense |
9/28 |
- |
1 |
7-55224268-C-A |
c.1049C>A |
p.S350Y |
Missense |
9/28 |
- |
1 |
7-55224280-C-T |
c.1061C>T |
p.T354M |
Missense |
9/28 |
- |
1 |
7-55224288-AA-GC |
c.1069_1070delinsGC |
p.K357A |
Missense |
9/28 |
- |
2 |
7-55224291-CA-AG |
c.1072_1073delinsAG |
p.H358S |
Missense |
9/28 |
- |
1 |
7-55224291-CAC-ATG |
c.1072_1074delinsATG |
p.H358M |
Missense |
9/28 |
- |
3 |
7-55224291-C-T |
c.1072C>T |
p.H358Y |
Missense |
9/28 |
- |
1 |
7-55224291-CA-GC |
c.1072_1073delinsGC |
p.H358A |
Missense |
9/28 |
- |
1 |
7-55224292-A-G |
c.1073A>G |
p.H358R |
Missense |
9/28 |
- |
6 |
7-55224292-A-C |
c.1073A>C |
p.H358P |
Missense |
9/28 |
- |
1 |
7-55224294-T-G |
c.1075T>G |
p.F359V |
Missense |
9/28 |
- |
13 |
7-55224294-T-C |
c.1075T>C |
p.F359L |
Missense |
9/28 |
- |
1 |
7-55224296-C-A |
c.1077C>A |
p.F359L |
Missense |
9/28 |
- |
1 |
7-55224296-C-G |
c.1077C>G |
p.F359L |
Missense |
9/28 |
- |
1 |
7-55224294-TT-GC |
c.1075_1076delinsGC |
p.F359A |
Missense |
9/28 |
- |
3 |
7-55224295-T-G |
c.1076T>G |
p.F359C |
Missense |
9/28 |
- |
3 |
7-55224297-A-G |
c.1078A>G |
p.K360E |
Missense |
9/28 |
- |
5 |
7-55224297-AAA-GAC |
c.1078_1080delinsGAC |
p.K360D |
Missense |
9/28 |
- |
2 |
7-55224300-A-G |
c.1081A>G |
p.N361D |
Missense |
9/28 |
- |
1 |
7-55224296-CA-C |
c.1082del |
p.N361Tfs*35 |
Frameshift |
9/28 |
- |
2 |
7-55224303-TG-GC |
c.1084_1085delinsGC |
p.C362A |
Missense |
9/28 |
- |
1 |
7-55224303-T-A |
c.1084T>A |
p.C362S |
Missense |
9/28 |
- |
2 |
7-55224304-G-C |
c.1085G>C |
p.C362S |
Missense |
9/28 |
- |
2 |
7-55224305-C-A |
c.1086C>A |
p.C362* |
Nonsense |
9/28 |
- |
1 |
7-55224306-A-G |
c.1087A>G |
p.T363A |
Missense |
9/28 |
- |
2 |
7-55224307-C-T |
c.1088C>T |
p.T363I |
Missense |
9/28 |
- |
3 |
7-55224307-C-A |
c.1088C>A |
p.T363N |
Missense |
9/28 |
- |
2 |
7-55224309-T-G |
c.1090T>G |
p.S364A |
Missense |
9/28 |
- |
2 |
7-55224309-TC-CA |
c.1090_1091delinsCA |
p.S364H |
Missense |
9/28 |
- |
5 |
7-55224309-TCC-CAA |
c.1090_1092delinsCAA |
p.S364Q |
Missense |
9/28 |
- |
1 |
7-55224310-C-T |
c.1091C>T |
p.S364F |
Missense |
9/28 |
- |
1 |
7-55224313-T-A |
c.1094T>A |
p.I365N |
Missense |
9/28 |
- |
1 |
7-55224321-GA-CG |
c.1102_1103delinsCG |
p.D368R |
Missense |
9/28 |
- |
1 |
7-55224321-G-T |
c.1102G>T |
p.D368Y |
Missense |
9/28 |
- |
1 |
7-55224321-G-C |
c.1102G>C |
p.D368H |
Missense |
9/28 |
- |
1 |
7-55224321-G-A |
c.1102G>A |
p.D368N |
Missense |
9/28 |
- |
3 |
7-55224322-A-C |
c.1103A>C |
p.D368A |
Missense |
9/28 |
- |
1 |
7-55224327-C-T |
c.1108C>T |
p.H370Y |
Missense |
9/28 |
- |
1 |
7-55224328-ACAT-A |
c.1111_1113del |
p.I371del |
InFrameDeletion |
9/28 |
- |
1 |
7-55224333-C-A |
c.1114C>A |
p.L372M |
Missense |
9/28 |
- |
2 |
7-55224334-TG-AT |
c.1115_1116delinsAT |
p.L372H |
Missense |
9/28 |
- |
1 |
7-55224336-C-T |
c.1117C>T |
p.P373S |
Missense |
9/28 |
- |
1 |
7-55224337-C-T |
c.1118C>T |
p.P373L |
Missense |
9/28 |
- |
4 |
7-55224338-G-A |
c.1119G>A |
p.P373= |
Synonymous |
9/28 |
- |
1 |
7-55224339-GTG-ATC |
c.1120_1122delinsATC |
p.V374I |
Missense |
9/28 |
- |
1 |
7-55224342-G-C |
c.1123G>C |
p.A375P |
Missense |
9/28 |
- |
23 |
7-55224342-GCA-ATG |
c.1123_1125delinsATG |
p.A375M |
Missense |
9/28 |
- |
18 |
7-55224342-GC-AG |
c.1123_1124delinsAG |
p.A375R |
Missense |
9/28 |
- |
10 |
7-55224342-GC-TA |
c.1123_1124delinsTA |
p.A375* |
Nonsense |
9/28 |
- |
1 |
7-55224342-G-T |
c.1123G>T |
p.A375S |
Missense |
9/28 |
- |
1 |
7-55224343-C-G |
c.1124C>G |
p.A375G |
Missense |
9/28 |
- |
1 |
7-55224345-TT-GC |
c.1126_1127delinsGC |
p.F376A |
Missense |
9/28 |
- |
1 |
7-55224348-AGG-CAT |
c.1129_1131delinsCAT |
p.R377H |
Missense |
9/28 |
- |
1 |
7-55224348-AG-GC |
c.1129_1130delinsGC |
p.R377A |
Missense |
9/28 |
- |
1 |
7-55224350-G-C |
c.1131G>C |
p.R377S |
Missense |
9/28 |
- |
3 |
7-55224350-G-T |
c.1131G>T |
p.R377S |
Missense |
9/28 |
- |
3 |
7-55224352-G-C |
c.1133G>C |
p.G378A |
Missense |
9/28 |
- |
1 |
7-55224352-G-T |
c.1133G>T |
p.G378V |
Missense |
9/28 |
- |
1 |
7-55224454-A-C |
c.1136A>C |
p.D379A |
Missense |
10/28 |
- |
1 |
7-55224456-T-G |
c.1138T>G |
p.S380A |
Missense |
10/28 |
- |
1 |
7-55224457-C-G |
c.1139C>G |
p.S380C |
Missense |
10/28 |
- |
1 |
7-55224457-CC-AA |
c.1139_1140delinsAA |
p.S380* |
Nonsense |
10/28 |
- |
1 |
7-55224459-TT-GC |
c.1141_1142delinsGC |
p.F381A |
Missense |
10/28 |
- |
1 |
7-55224462-A-G |
c.1144A>G |
p.T382A |
Missense |
10/28 |
- |
2 |
7-55224465-CA-GC |
c.1147_1148delinsGC |
p.H383A |
Missense |
10/28 |
- |
1 |
7-55224468-A-T |
c.1150A>T |
p.T384S |
Missense |
10/28 |
- |
3 |
7-55224468-A-G |
c.1150A>G |
p.T384A |
Missense |
10/28 |
- |
1 |
7-55224469-C-G |
c.1151C>G |
p.T384S |
Missense |
10/28 |
- |
2 |
7-55224471-C-T |
c.1153C>T |
p.P385S |
Missense |
10/28 |
- |
3 |
7-55224471-C-G |
c.1153C>G |
p.P385A |
Missense |
10/28 |
- |
1 |
7-55224472-C-G |
c.1154C>G |
p.P385R |
Missense |
10/28 |
- |
1 |
7-55224474-C-G |
c.1156C>G |
p.P386A |
Missense |
10/28 |
- |
2 |
7-55224475-C-T |
c.1157C>T |
p.P386L |
Missense |
10/28 |
- |
1 |
7-55224477-C-A |
c.1159C>A |
p.L387M |
Missense |
10/28 |
- |
5 |
7-55224477-CTG-TTT |
c.1159_1161delinsTTT |
p.L387F |
Missense |
10/28 |
- |
2 |
7-55224477-C-G |
c.1159C>G |
p.L387V |
Missense |
10/28 |
- |
1 |
7-55224477-CT-TC |
c.1159_1160delinsTC |
p.L387S |
Missense |
10/28 |
- |
1 |
7-55224477-CTG-AGGAGC |
c.1159_1161delinsAGGAGC |
p.L387delinsRS |
MultiAAMissense |
10/28 |
- |
1 |
7-55224477-CT-GC |
c.1159_1160delinsGC |
p.L387A |
Missense |
10/28 |
- |
1 |
7-55224480-G-A |
c.1162G>A |
p.D388N |
Missense |
10/28 |
- |
3 |
7-55224481-A-G |
c.1163A>G |
p.D388G |
Missense |
10/28 |
- |
1 |
7-55224481-A-C |
c.1163A>C |
p.D388A |
Missense |
10/28 |
- |
1 |
7-55224483-C-G |
c.1165C>G |
p.P389A |
Missense |
10/28 |
- |
2 |
7-55224486-C-G |
c.1168C>G |
p.Q390E |
Missense |
10/28 |
- |
2 |
7-55224486-C-A |
c.1168C>A |
p.Q390K |
Missense |
10/28 |
- |
1 |
7-55224486-CA-GC |
c.1168_1169delinsGC |
p.Q390A |
Missense |
10/28 |
- |
1 |
7-55224487-A-G |
c.1169A>G |
p.Q390R |
Missense |
10/28 |
- |
1 |
7-55224489-G-A |
c.1171G>A |
p.E391K |
Missense |
10/28 |
- |
1 |
7-55224490-A-C |
c.1172A>C |
p.E391A |
Missense |
10/28 |
- |
1 |
7-55224490-A-G |
c.1172A>G |
p.E391G |
Missense |
10/28 |
- |
1 |
7-55224492-CT-GC |
c.1174_1175delinsGC |
p.L392A |
Missense |
10/28 |
- |
1 |
7-55224495-G-A |
c.1177G>A |
p.D393N |
Missense |
10/28 |
- |
1 |
7-55224496-A-C |
c.1178A>C |
p.D393A |
Missense |
10/28 |
- |
1 |
7-55224498-AT-GC |
c.1180_1181delinsGC |
p.I394A |
Missense |
10/28 |
- |
1 |
7-55224501-TCTG-T |
c.1183_1185del |
p.L395del |
InFrameDeletion |
10/28 |
- |
1 |
7-55224507-A-G |
c.1189A>G |
p.T397A |
Missense |
10/28 |
- |
1 |
7-55224508-C-T |
c.1190C>T |
p.T397I |
Missense |
10/28 |
- |
1 |
7-55224511-T-A |
c.1193T>A |
p.V398E |
Missense |
10/28 |
- |
1 |
7-55224516-GA-TC |
c.1198_1199inv |
p.E400S |
Missense |
10/28 |
- |
2 |
7-55224522-A-G |
c.1204A>G |
p.T402A |
Missense |
10/28 |
- |
1 |
7-55224525-G-T |
c.1207G>T |
p.G403W |
Missense |
10/28 |
- |
1 |
7-55225140-G-C |
c.1208-216G>C |
- |
IntronicSNV |
- |
10/27 |
2 |
7-55225170-G-C |
c.1208-186G>C |
- |
IntronicSNV |
- |
10/27 |
1 |
7-55225357-G-T |
c.1209G>T |
p.G403= |
Synonymous |
11/28 |
- |
1 |
7-55225357-G-A |
c.1209G>A |
p.G403= |
Synonymous |
11/28 |
- |
1 |
7-55225357-G-C |
c.1209G>C |
p.G403= |
Synonymous |
11/28 |
- |
1 |
7-55225364-C-A |
c.1216C>A |
p.L406M |
Missense |
11/28 |
- |
1 |
7-55225365-T-A |
c.1217T>A |
p.L406Q |
Missense |
11/28 |
- |
1 |
7-55225367-A-G |
c.1219A>G |
p.I407V |
Missense |
11/28 |
- |
1 |
7-55225370-CA-GC |
c.1222_1223delinsGC |
p.Q408A |
Missense |
11/28 |
- |
1 |
7-55225371-A-G |
c.1223A>G |
p.Q408R |
Missense |
11/28 |
- |
1 |
7-55225372-G-T |
c.1224G>T |
p.Q408H |
Missense |
11/28 |
- |
1 |
7-55225372-G-C |
c.1224G>C |
p.Q408H |
Missense |
11/28 |
- |
1 |
7-55225379-C-T |
c.1231C>T |
p.P411S |
Missense |
11/28 |
- |
2 |
7-55225380-C-T |
c.1232C>T |
p.P411L |
Missense |
11/28 |
- |
1 |
7-55225384-A-G |
c.1236A>G |
p.E412= |
Synonymous |
11/28 |
- |
1 |
7-55225387-C-T |
c.1239C>T |
p.N413= |
Synonymous |
11/28 |
- |
1 |
7-55225388-AG-TA |
c.1240_1241delinsTA |
p.R414* |
Nonsense |
11/28 |
- |
1 |
7-55225394-G-A |
c.1246G>A |
p.D416N |
Missense |
11/28 |
- |
2 |
7-55225397-C-G |
c.1249C>G |
p.L417V |
Missense |
11/28 |
- |
1 |
7-55225398-T-A |
c.1250T>A |
p.L417H |
Missense |
11/28 |
- |
1 |
7-55225398-T-G |
c.1250T>G |
p.L417R |
Missense |
11/28 |
- |
1 |
7-55225400-C-T |
c.1252C>T |
p.H418Y |
Missense |
11/28 |
- |
2 |
7-55225400-C-A |
c.1252C>A |
p.H418N |
Missense |
11/28 |
- |
1 |
7-55225403-TGCC-T |
c.1255_1257del |
p.A419del |
InFrameDeletion |
11/28 |
- |
1 |
7-55225404-C-T |
c.1256C>T |
p.A419V |
Missense |
11/28 |
- |
1 |
7-55225405-C-G |
c.1257C>G |
p.A419= |
Synonymous |
11/28 |
- |
1 |
7-55225406-T-A |
c.1258T>A |
p.F420I |
Missense |
11/28 |
- |
1 |
7-55225409-G-A |
c.1261G>A |
p.E421K |
Missense |
11/28 |
- |
2 |
7-55225409-G-T |
c.1261G>T |
p.E421* |
Nonsense |
11/28 |
- |
1 |
7-55225409-G-C |
c.1261G>C |
p.E421Q |
Missense |
11/28 |
- |
1 |
7-55225412-A-G |
c.1264A>G |
p.N422D |
Missense |
11/28 |
- |
1 |
7-55225421-A-C |
c.1273A>C |
p.I425L |
Missense |
11/28 |
- |
1 |
7-55225421-A-G |
c.1273A>G |
p.I425V |
Missense |
11/28 |
- |
1 |
7-55225427-CG-GC |
c.1279_1280delinsGC |
p.R427A |
Missense |
11/28 |
- |
1 |
7-55225427-C-T |
c.1279C>T |
p.R427C |
Missense |
11/28 |
- |
3 |
7-55225428-G-T |
c.1280G>T |
p.R427L |
Missense |
11/28 |
- |
1 |
7-55225428-G-A |
c.1280G>A |
p.R427H |
Missense |
11/28 |
- |
1 |
7-55225428-GC-AA |
c.1280_1281delinsAA |
p.R427Q |
Missense |
11/28 |
- |
1 |
7-55225431-G-A |
c.1283G>A |
p.G428D |
Missense |
11/28 |
- |
6 |
7-55225433-AG-GA |
c.1285_1286delinsGA |
p.R429E |
Missense |
11/28 |
- |
1 |
7-55225435-G-C |
c.1287G>C |
p.R429S |
Missense |
11/28 |
- |
1 |
7-55225435-G-T |
c.1287G>T |
p.R429S |
Missense |
11/28 |
- |
1 |
7-55225437-C-T |
c.1289C>T |
p.T430I |
Missense |
11/28 |
- |
2 |
7-55225442-C-A |
c.1294C>A |
p.Q432K |
Missense |
11/28 |
- |
1 |
7-55225444-A-T |
c.1296A>T |
p.Q432H |
Missense |
11/28 |
- |
3 |
7-55225444-A-C |
c.1296A>C |
p.Q432H |
Missense |
11/28 |
- |
3 |
7-55225445-C-T |
c.1297C>T |
p.H433Y |
Missense |
11/28 |
- |
1 |
7-55225445-CA-GC |
c.1297_1298delinsGC |
p.H433A |
Missense |
11/28 |
- |
2 |
7-55225446-A-T |
c.1298A>T |
p.H433L |
Missense |
11/28 |
- |
1 |
7-55227837-A-C |
c.1304A>C |
p.Q435P |
Missense |
12/28 |
- |
1 |
7-55227839-T-C |
c.1306T>C |
p.F436L |
Missense |
12/28 |
- |
1 |
7-55227842-TC-CT |
c.1309_1310delinsCT |
p.S437L |
Missense |
12/28 |
- |
1 |
7-55227843-C-T |
c.1310C>T |
p.S437F |
Missense |
12/28 |
- |
1 |
7-55227845-C-G |
c.1312C>G |
p.L438V |
Missense |
12/28 |
- |
1 |
7-55227846-T-C |
c.1313T>C |
p.L438P |
Missense |
12/28 |
- |
1 |
7-55227850-A-G |
c.1317A>G |
p.A439= |
Synonymous |
12/28 |
- |
2 |
7-55227851-G-A |
c.1318G>A |
p.V440I |
Missense |
12/28 |
- |
3 |
7-55227851-G-T |
c.1318G>T |
p.V440F |
Missense |
12/28 |
- |
1 |
7-55227852-T-C |
c.1319T>C |
p.V440A |
Missense |
12/28 |
- |
1 |
7-55227854-G-A |
c.1321G>A |
p.V441I |
Missense |
12/28 |
- |
3 |
7-55227854-G-T |
c.1321G>T |
p.V441F |
Missense |
12/28 |
- |
1 |
7-55227854-GT-AA |
c.1321_1322delinsAA |
p.V441N |
Missense |
12/28 |
- |
1 |
7-55227854-G-C |
c.1321G>C |
p.V441L |
Missense |
12/28 |
- |
1 |
7-55227855-T-A |
c.1322T>A |
p.V441D |
Missense |
12/28 |
- |
3 |
7-55227855-T-G |
c.1322T>G |
p.V441G |
Missense |
12/28 |
- |
2 |
7-55227857-AG-GA |
c.1324_1325delinsGA |
p.S442D |
Missense |
12/28 |
- |
1 |
7-55227857-AG-TT |
c.1324_1325delinsTT |
p.S442F |
Missense |
12/28 |
- |
3 |
7-55227857-AG-CT |
c.1324_1325inv |
p.S442L |
Missense |
12/28 |
- |
1 |
7-55227858-G-C |
c.1325G>C |
p.S442T |
Missense |
12/28 |
- |
1 |
7-55227858-GC-AG |
c.1325_1326delinsAG |
p.S442K |
Missense |
12/28 |
- |
1 |
7-55227860-CTG-TTT |
c.1327_1329delinsTTT |
p.L443F |
Missense |
12/28 |
- |
1 |
7-55227860-CT-GC |
c.1327_1328delinsGC |
p.L443A |
Missense |
12/28 |
- |
1 |
7-55227861-T-A |
c.1328T>A |
p.L443Q |
Missense |
12/28 |
- |
1 |
7-55227870-C-A |
c.1337C>A |
p.T446K |
Missense |
12/28 |
- |
2 |
7-55227872-TC-CG |
c.1339_1340delinsCG |
p.S447R |
Missense |
12/28 |
- |
1 |
7-55227873-CC-AA |
c.1340_1341delinsAA |
p.S447* |
Nonsense |
12/28 |
- |
2 |
7-55227873-C-T |
c.1340C>T |
p.S447F |
Missense |
12/28 |
- |
1 |
7-55227873-C-A |
c.1340C>A |
p.S447Y |
Missense |
12/28 |
- |
1 |
7-55227874-C-A |
c.1341C>A |
p.S447= |
Synonymous |
12/28 |
- |
1 |
7-55227875-TTG-ATC |
c.1342_1344delinsATC |
p.L448I |
Missense |
12/28 |
- |
1 |
7-55227879-G-T |
c.1346G>T |
p.G449V |
Missense |
12/28 |
- |
1 |
7-55227884-C-T |
c.1351C>T |
p.R451C |
Missense |
12/28 |
- |
25 |
7-55227884-CG-TT |
c.1351_1352delinsTT |
p.R451F |
Missense |
12/28 |
- |
1 |
7-55227885-G-A |
c.1352G>A |
p.R451H |
Missense |
12/28 |
- |
4 |
7-55227888-C-T |
c.1355C>T |
p.S452F |
Missense |
12/28 |
- |
3 |
7-55227890-C-T |
c.1357C>T |
p.L453F |
Missense |
12/28 |
- |
1 |
7-55227893-AA-GC |
c.1360_1361delinsGC |
p.K454A |
Missense |
12/28 |
- |
1 |
7-55227893-A-G |
c.1360A>G |
p.K454E |
Missense |
12/28 |
- |
1 |
7-55227894-A-G |
c.1361A>G |
p.K454R |
Missense |
12/28 |
- |
6 |
7-55227894-A-T |
c.1361A>T |
p.K454M |
Missense |
12/28 |
- |
1 |
7-55227896-GA-TC |
c.1363_1364inv |
p.E455S |
Missense |
12/28 |
- |
1 |
7-55227899-A-G |
c.1366A>G |
p.I456V |
Missense |
12/28 |
- |
1 |
7-55227900-T-C |
c.1367T>C |
p.I456T |
Missense |
12/28 |
- |
1 |
7-55227902-AG-GC |
c.1369_1370delinsGC |
p.S457A |
Missense |
12/28 |
- |
1 |
7-55227900-TAAGTGATGG-T |
c.1369_1377del |
p.S457_G459del |
InFrameDeletion |
12/28 |
- |
1 |
7-55227903-AG-A |
c.1370del |
p.S457Mfs*5 |
Frameshift |
12/28 |
- |
1 |
7-55227905-G-C |
c.1372G>C |
p.D458H |
Missense |
12/28 |
- |
1 |
7-55227905-G-A |
c.1372G>A |
p.D458N |
Missense |
12/28 |
- |
2 |
7-55227908-GG-CC |
c.1375_1376inv |
p.G459P |
Missense |
12/28 |
- |
1 |
7-55227908-G-A |
c.1375G>A |
p.G459R |
Missense |
12/28 |
- |
1 |
7-55227908-G-C |
c.1375G>C |
p.G459R |
Missense |
12/28 |
- |
1 |
7-55227909-G-A |
c.1376G>A |
p.G459E |
Missense |
12/28 |
- |
2 |
7-55227909-G-C |
c.1376G>C |
p.G459A |
Missense |
12/28 |
- |
1 |
7-55227911-GAT-AAG |
c.1378_1380delinsAAG |
p.D460K |
Missense |
12/28 |
- |
1 |
7-55227914-GT-TC |
c.1381_1382delinsTC |
p.V461S |
Missense |
12/28 |
- |
1 |
7-55227914-G-C |
c.1381G>C |
p.V461L |
Missense |
12/28 |
- |
1 |
7-55227914-G-T |
c.1381G>T |
p.V461L |
Missense |
12/28 |
- |
1 |
7-55227917-A-G |
c.1384A>G |
p.I462V |
Missense |
12/28 |
- |
1 |
7-55227918-TA-GC |
c.1385_1386delinsGC |
p.I462S |
Missense |
12/28 |
- |
1 |
7-55227919-A-G |
c.1386A>G |
p.I462M |
Missense |
12/28 |
- |
2 |
7-55227923-T-C |
c.1390T>C |
p.S464P |
Missense |
12/28 |
- |
1 |
7-55227923-T-G |
c.1390T>G |
p.S464A |
Missense |
12/28 |
- |
1 |
7-55227924-C-T |
c.1391C>T |
p.S464L |
Missense |
12/28 |
- |
22 |
7-55227925-CAGGAAA-C |
c.1392_1397del |
p.G465_N466del |
InFrameDeletion |
12/28 |
- |
1 |
7-55227926-G-A |
c.1393G>A |
p.G465R |
Missense |
12/28 |
- |
36 |
7-55227926-G-C |
c.1393G>C |
p.G465R |
Missense |
12/28 |
- |
36 |
7-55227927-G-T |
c.1394G>T |
p.G465V |
Missense |
12/28 |
- |
8 |
7-55227927-G-A |
c.1394G>A |
p.G465E |
Missense |
12/28 |
- |
9 |
7-55227927-G-C |
c.1394G>C |
p.G465A |
Missense |
12/28 |
- |
3 |
7-55227930-A-C |
c.1397A>C |
p.N466T |
Missense |
12/28 |
- |
1 |
7-55227931-C-T |
c.1398C>T |
p.N466= |
Synonymous |
12/28 |
- |
1 |
7-55227932-A-T |
c.1399A>T |
p.K467* |
Nonsense |
12/28 |
- |
1 |
7-55227932-A-G |
c.1399A>G |
p.K467E |
Missense |
12/28 |
- |
1 |
7-55227933-A-C |
c.1400A>C |
p.K467T |
Missense |
12/28 |
- |
13 |
7-55227935-A-G |
c.1402A>G |
p.N468D |
Missense |
12/28 |
- |
1 |
7-55227937-T-G |
c.1404T>G |
p.N468K |
Missense |
12/28 |
- |
1 |
7-55227937-T-A |
c.1404T>A |
p.N468K |
Missense |
12/28 |
- |
1 |
7-55227939-T-C |
c.1406T>C |
p.L469S |
Missense |
12/28 |
- |
1 |
7-55227939-T-G |
c.1406T>G |
p.L469W |
Missense |
12/28 |
- |
1 |
7-55227943-C-T |
c.1410C>T |
p.C470= |
Synonymous |
12/28 |
- |
1 |
7-55227945-A-T |
c.1412A>T |
p.Y471F |
Missense |
12/28 |
- |
2 |
7-55227945-A-G |
c.1412A>G |
p.Y471C |
Missense |
12/28 |
- |
3 |
7-55227948-C-G |
c.1415C>G |
p.A472G |
Missense |
12/28 |
- |
1 |
7-55227949-A-T |
c.1416A>T |
p.A472= |
Synonymous |
12/28 |
- |
3 |
7-55227950-AA-GC |
c.1417_1418delinsGC |
p.N473A |
Missense |
12/28 |
- |
1 |
7-55227952-T-G |
c.1419T>G |
p.N473K |
Missense |
12/28 |
- |
1 |
7-55227952-T-A |
c.1419T>A |
p.N473K |
Missense |
12/28 |
- |
1 |
7-55227953-AC-GA |
c.1420_1421delinsGA |
p.T474E |
Missense |
12/28 |
- |
1 |
7-55227953-ACA-TTT |
c.1420_1422delinsTTT |
p.T474F |
Missense |
12/28 |
- |
1 |
7-55227953-AC-CT |
c.1420_1421delinsCT |
p.T474L |
Missense |
12/28 |
- |
1 |
7-55227953-AC-CA |
c.1420_1421delinsCA |
p.T474Q |
Missense |
12/28 |
- |
1 |
7-55227953-AC-GT |
c.1420_1421inv |
p.T474V |
Missense |
12/28 |
- |
1 |
7-55227953-A-G |
c.1420A>G |
p.T474A |
Missense |
12/28 |
- |
3 |
7-55227953-ACA-GAC |
c.1420_1422delinsGAC |
p.T474D |
Missense |
12/28 |
- |
1 |
7-55227954-C-T |
c.1421C>T |
p.T474I |
Missense |
12/28 |
- |
2 |
7-55227954-CA-TG |
c.1421_1422inv |
p.T474M |
Missense |
12/28 |
- |
1 |
7-55227955-A-G |
c.1422A>G |
p.T474= |
Synonymous |
12/28 |
- |
1 |
7-55227955-A-T |
c.1422A>T |
p.T474= |
Synonymous |
12/28 |
- |
1 |
7-55227955-A-C |
c.1422A>C |
p.T474= |
Synonymous |
12/28 |
- |
1 |
7-55227959-A-G |
c.1426A>G |
p.N476D |
Missense |
12/28 |
- |
1 |
7-55227959-A-T |
c.1426A>T |
p.N476Y |
Missense |
12/28 |
- |
1 |
7-55227963-G-A |
c.1430G>A |
p.W477* |
Nonsense |
12/28 |
- |
1 |
7-55227965-AA-GC |
c.1432_1433delinsGC |
p.K478A |
Missense |
12/28 |
- |
1 |
7-55227967-A-C |
c.1434A>C |
p.K478N |
Missense |
12/28 |
- |
1 |
7-55227967-A-T |
c.1434A>T |
p.K478N |
Missense |
12/28 |
- |
1 |
7-55227967-AAAAACTGTTTGGGAC-A |
c.1434_1448del |
p.K478_T483delinsN |
MultiAAMissense |
12/28 |
- |
1 |
7-55227968-AAAACTGTTTGGGACC-A |
c.1435_1449del |
p.K479_T483del |
InFrameDeletion |
12/28 |
- |
1 |
7-55227968-AAAACTGTTT-A |
c.1435_1443del |
p.K479_F481del |
InFrameDeletion |
12/28 |
- |
1 |
7-55227964-G-GA |
c.1437dup |
p.L480Tfs*17 |
Frameshift |
12/28 |
- |
2 |
7-55227971-CTG-GAC |
c.1438_1440delinsGAC |
p.L480D |
Missense |
12/28 |
- |
1 |
7-55227970-ACTGTTTGGGACCTCCGGT-A |
c.1439_1456del |
p.L480_G485del |
InFrameDeletion |
12/28 |
- |
1 |
7-55227972-T-C |
c.1439T>C |
p.L480P |
Missense |
12/28 |
- |
1 |
7-55227974-T-C |
c.1441T>C |
p.F481L |
Missense |
12/28 |
- |
1 |
7-55227976-T-A |
c.1443T>A |
p.F481L |
Missense |
12/28 |
- |
1 |
7-55227976-T-G |
c.1443T>G |
p.F481L |
Missense |
12/28 |
- |
1 |
7-55227977-G-A |
c.1444G>A |
p.G482R |
Missense |
12/28 |
- |
1 |
7-55227977-G-C |
c.1444G>C |
p.G482R |
Missense |
12/28 |
- |
1 |
7-55227978-G-A |
c.1445G>A |
p.G482E |
Missense |
12/28 |
- |
1 |
7-55227978-GG-AC |
c.1445_1446delinsAC |
p.G482D |
Missense |
12/28 |
- |
1 |
7-55227980-GACCTCCGGT-G |
c.1447_1455del |
p.T483_G485del |
InFrameDeletion |
12/28 |
- |
1 |
7-55227981-C-T |
c.1448C>T |
p.T483I |
Missense |
12/28 |
- |
2 |
7-55227986-G-C |
c.1453G>C |
p.G485R |
Missense |
12/28 |
- |
1 |
7-55227986-CGGT-C |
c.1453_1455del |
p.G485del |
InFrameDeletion |
12/28 |
- |
1 |
7-55227987-G-A |
c.1454G>A |
p.G485D |
Missense |
12/28 |
- |
1 |
7-55227989-C-T |
c.1456C>T |
p.Q486* |
Nonsense |
12/28 |
- |
1 |
7-55227992-A-G |
c.1459A>G |
p.K487E |
Missense |
12/28 |
- |
1 |
7-55227995-A-G |
c.1462A>G |
p.T488A |
Missense |
12/28 |
- |
2 |
7-55227996-CC-AG |
c.1463_1464delinsAG |
p.T488K |
Missense |
12/28 |
- |
1 |
7-55227995-AC-A |
c.1464del |
p.I490Lfs*2 |
Frameshift |
12/28 |
- |
1 |
7-55227998-AA-GC |
c.1465_1466delinsGC |
p.K489A |
Missense |
12/28 |
- |
1 |
7-55227998-A-G |
c.1465A>G |
p.K489E |
Missense |
12/28 |
- |
2 |
7-55228001-A-G |
c.1468A>G |
p.I490V |
Missense |
12/28 |
- |
1 |
7-55228005-T-A |
c.1472T>A |
p.I491K |
Missense |
12/28 |
- |
1 |
7-55228006-A-G |
c.1473A>G |
p.I491M |
Missense |
12/28 |
- |
16 |
7-55228007-A-G |
c.1474A>G |
p.S492G |
Missense |
12/28 |
- |
1 |
7-55228007-AG-GT |
c.1474_1475delinsGT |
p.S492V |
Missense |
12/28 |
- |
1 |
7-55228007-AG-GC |
c.1474_1475delinsGC |
p.S492A |
Missense |
12/28 |
- |
1 |
7-55228009-C-G |
c.1476C>G |
p.S492R |
Missense |
12/28 |
- |
88 |
7-55228009-C-A |
c.1476C>A |
p.S492R |
Missense |
12/28 |
- |
135 |
7-55228007-A-C |
c.1474A>C |
p.S492R |
Missense |
12/28 |
- |
135 |
7-55228010-A-G |
c.1477A>G |
p.N493D |
Missense |
12/28 |
- |
3 |
7-55228011-A-G |
c.1478A>G |
p.N493S |
Missense |
12/28 |
- |
1 |
7-55228013-A-T |
c.1480A>T |
p.R494* |
Nonsense |
12/28 |
- |
1 |
7-55228014-G-A |
c.1481G>A |
p.R494K |
Missense |
12/28 |
- |
1 |
7-55228016-G-A |
c.1483G>A |
p.G495S |
Missense |
12/28 |
- |
2 |
7-55228022-AA-GC |
c.1489_1490delinsGC |
p.N497A |
Missense |
12/28 |
- |
1 |
7-55228023-A-G |
c.1490A>G |
p.N497S |
Missense |
12/28 |
- |
1 |
7-55228024-C-A |
c.1491C>A |
p.N497K |
Missense |
12/28 |
- |
1 |
7-55228026-G-A |
c.1493G>A |
p.S498N |
Missense |
12/28 |
- |
1 |
7-55228027-GCTGCAGTAAGTCACCGCTTTCTGTTTAGTTTATGGAGTTGGTTCTAATGGGTCCTTTAT-G |
c.1494_1498+54del |
- |
SpliceDonorDeletion |
12/28 |
12/27 |
1 |
7-55228028-TG-AC |
c.1495_1496delinsAC |
p.C499T |
Missense |
12/28 |
- |
2 |
7-55228025-AGCT-A |
c.1495_1497del |
p.C499del |
SpliceDonorDeletion |
12/28 |
- |
1 |
7-55228028-T-TTGGCCAGCG |
c.1495_1496insTGGCCAGCG |
p.C499delinsLASG |
MultiAAMissense |
12/28 |
- |
1 |
7-55228029-G-A |
c.1496G>A |
p.C499Y |
Missense |
12/28 |
- |
2 |
7-55228053-A-T |
c.1498+22A>T |
- |
IntronicSNV |
- |
12/27 |
8 |
7-55228053-A-C |
c.1498+22A>C |
- |
IntronicSNV |
- |
12/27 |
6 |
7-55228053-A-G |
c.1498+22A>G |
- |
IntronicSNV |
- |
12/27 |
6 |
7-55228173-C-T |
c.1498+142C>T |
- |
IntronicSNV |
- |
12/27 |
2 |
7-55228528-G-A |
c.1498+497G>A |
- |
IntronicSNV |
- |
12/27 |
1 |
7-55229015-A-G |
c.1499-177A>G |
- |
IntronicSNV |
- |
12/27 |
2 |
7-55229190-A-AGACAGCGTG |
c.1499_1500insCAGCGTGGA |
p.K500delinsNSVE |
SpliceAcceptorInsertion |
13/28 |
- |
1 |
7-55229194-G-A |
c.1501G>A |
p.A501T |
Missense |
13/28 |
- |
1 |
7-55229197-A-G |
c.1504A>G |
p.T502A |
Missense |
13/28 |
- |
1 |
7-55229197-A-ACGGACAACC |
c.1505_1506insGGACAACCC |
p.T502_G503insDNP |
InFrameInsertion |
13/28 |
- |
1 |
7-55229198-C-A |
c.1505C>A |
p.T502K |
Missense |
13/28 |
- |
1 |
7-55229200-G-T |
c.1507G>T |
p.G503C |
Missense |
13/28 |
- |
1 |
7-55229199-A-AGACAACCCC |
c.1507_1508insACAACCCCG |
p.T502_G503insDNP |
InFrameInsertion |
13/28 |
- |
1 |
7-55229202-C-T |
c.1509C>T |
p.G503= |
Synonymous |
13/28 |
- |
3 |
7-55229203-C-A |
c.1510C>A |
p.Q504K |
Missense |
13/28 |
- |
1 |
7-55229205-G-C |
c.1512G>C |
p.Q504H |
Missense |
13/28 |
- |
1 |
7-55229206-G-A |
c.1513G>A |
p.V505I |
Missense |
13/28 |
- |
1 |
7-55229208-C-T |
c.1515C>T |
p.V505= |
Synonymous |
13/28 |
- |
1 |
7-55229205-G-GGTCCAC |
c.1515_1516insCACGTC |
p.V505_C506insHV |
InFrameInsertion |
13/28 |
- |
1 |
7-55229216-C-T |
c.1523C>T |
p.A508V |
Missense |
13/28 |
- |
1 |
7-55229218-T-G |
c.1525T>G |
p.L509V |
Missense |
13/28 |
- |
1 |
7-55229222-G-A |
c.1529G>A |
p.C510Y |
Missense |
13/28 |
- |
1 |
7-55229227-C-T |
c.1534C>T |
p.P512S |
Missense |
13/28 |
- |
1 |
7-55229229-C-A |
c.1536C>A |
p.P512= |
Synonymous |
13/28 |
- |
1 |
7-55229229-C-G |
c.1536C>G |
p.P512= |
Synonymous |
13/28 |
- |
1 |
7-55229229-C-CT |
c.1536_1537insT |
p.E513* |
Nonsense |
13/28 |
- |
1 |
7-55229231-A-C |
c.1538A>C |
p.E513A |
Missense |
13/28 |
- |
1 |
7-55229231-A-G |
c.1538A>G |
p.E513G |
Missense |
13/28 |
- |
1 |
7-55229234-G-C |
c.1541G>C |
p.G514A |
Missense |
13/28 |
- |
1 |
7-55229235-C-T |
c.1542C>T |
p.G514= |
Synonymous |
13/28 |
- |
1 |
7-55229236-T-G |
c.1543T>G |
p.C515G |
Missense |
13/28 |
- |
1 |
7-55229238-C-T |
c.1545C>T |
p.C515= |
Synonymous |
13/28 |
- |
1 |
7-55229240-G-A |
c.1547G>A |
p.W516* |
Nonsense |
13/28 |
- |
1 |
7-55229241-G-A |
c.1548G>A |
p.W516* |
Nonsense |
13/28 |
- |
1 |
7-55229240-G-T |
c.1547G>T |
p.W516L |
Missense |
13/28 |
- |
1 |
7-55229242-G-A |
c.1549G>A |
p.G517S |
Missense |
13/28 |
- |
1 |
7-55229243-G-C |
c.1550G>C |
p.G517A |
Missense |
13/28 |
- |
1 |
7-55229246-C-T |
c.1553C>T |
p.P518L |
Missense |
13/28 |
- |
6 |
7-55229247-G-A |
c.1554G>A |
p.P518= |
Synonymous |
13/28 |
- |
2 |
7-55229251-C-T |
c.1558C>T |
p.P520S |
Missense |
13/28 |
- |
1 |
7-55229253-C-T |
c.1560C>T |
p.P520= |
Synonymous |
13/28 |
- |
1 |
7-55229254-A-G |
c.1561A>G |
p.R521G |
Missense |
13/28 |
- |
1 |
7-55229254-AG-CT |
c.1561_1562inv |
p.R521L |
Missense |
13/28 |
- |
1 |
7-55229255-G-A |
c.1562G>A |
p.R521K |
Missense |
13/28 |
- |
120 |
7-55229255-G-C |
c.1562G>C |
p.R521T |
Missense |
13/28 |
- |
38 |
7-55229255-G-T |
c.1562G>T |
p.R521M |
Missense |
13/28 |
- |
38 |
7-55229256-G-C |
c.1563G>C |
p.R521S |
Missense |
13/28 |
- |
1 |
7-55229256-G-T |
c.1563G>T |
p.R521S |
Missense |
13/28 |
- |
1 |
7-55229257-G-T |
c.1564G>T |
p.D522Y |
Missense |
13/28 |
- |
1 |
7-55229262-C-G |
c.1569C>G |
p.C523W |
Missense |
13/28 |
- |
1 |
7-55229263-GT-AG |
c.1570_1571delinsAG |
p.V524S |
Missense |
13/28 |
- |
1 |
7-55229263-CG-C |
c.1570del |
p.V524Sfs*44 |
Frameshift |
13/28 |
- |
1 |
7-55229263-G-A |
c.1570G>A |
p.V524I |
Missense |
13/28 |
- |
1 |
7-55229266-TC-GA |
c.1573_1574inv |
p.S525D |
Missense |
13/28 |
- |
1 |
7-55229266-T-G |
c.1573T>G |
p.S525A |
Missense |
13/28 |
- |
1 |
7-55229267-C-T |
c.1574C>T |
p.S525F |
Missense |
13/28 |
- |
2 |
7-55229269-T-G |
c.1576T>G |
p.C526G |
Missense |
13/28 |
- |
1 |
7-55229270-G-C |
c.1577G>C |
p.C526S |
Missense |
13/28 |
- |
1 |
7-55229270-G-A |
c.1577G>A |
p.C526Y |
Missense |
13/28 |
- |
1 |
7-55229271-C-G |
c.1578C>G |
p.C526W |
Missense |
13/28 |
- |
1 |
7-55229272-C-T |
c.1579C>T |
p.R527W |
Missense |
13/28 |
- |
1 |
7-55229273-G-A |
c.1580G>A |
p.R527Q |
Missense |
13/28 |
- |
1 |
7-55229274-G-A |
c.1581G>A |
p.R527= |
Synonymous |
13/28 |
- |
1 |
7-55229275-A-G |
c.1582A>G |
p.N528D |
Missense |
13/28 |
- |
1 |
7-55229276-AT-GG |
c.1583_1584delinsGG |
p.N528R |
Missense |
13/28 |
- |
1 |
7-55229281-AG-GC |
c.1588_1589delinsGC |
p.S530A |
Missense |
13/28 |
- |
1 |
7-55229283-C-G |
c.1590C>G |
p.S530R |
Missense |
13/28 |
- |
1 |
7-55229283-C-A |
c.1590C>A |
p.S530R |
Missense |
13/28 |
- |
1 |
7-55229281-A-C |
c.1588A>C |
p.S530R |
Missense |
13/28 |
- |
1 |
7-55229284-CG-GC |
c.1591_1592delinsGC |
p.R531A |
Missense |
13/28 |
- |
1 |
7-55229284-C-T |
c.1591C>T |
p.R531* |
Nonsense |
13/28 |
- |
1 |
7-55229285-G-A |
c.1592G>A |
p.R531Q |
Missense |
13/28 |
- |
2 |
7-55229288-G-C |
c.1595G>C |
p.G532A |
Missense |
13/28 |
- |
1 |
7-55229290-AG-GC |
c.1597_1598delinsGC |
p.R533A |
Missense |
13/28 |
- |
2 |
7-55229292-G-A |
c.1599G>A |
p.R533= |
Synonymous |
13/28 |
- |
1 |
7-55229296-TG-CC |
c.1603_1604delinsCC |
p.C535P |
Missense |
13/28 |
- |
1 |
7-55229296-TG-AC |
c.1603_1604delinsAC |
p.C535T |
Missense |
13/28 |
- |
1 |
7-55229298-C-T |
c.1605C>T |
p.C535= |
Synonymous |
13/28 |
- |
1 |
7-55229295-A-ATGCTTCCC |
c.1605_1606insTTCCCTGC |
p.V536Ffs*35 |
Frameshift |
13/28 |
- |
1 |
7-55229299-G-A |
c.1606G>A |
p.V536M |
Missense |
13/28 |
- |
4 |
7-55229300-T-A |
c.1607T>A |
p.V536E |
Missense |
13/28 |
- |
1 |
7-55229300-T-C |
c.1607T>C |
p.V536A |
Missense |
13/28 |
- |
1 |
7-55229305-AA-GC |
c.1612_1613delinsGC |
p.K538A |
Missense |
13/28 |
- |
2 |
7-55229306-A-G |
c.1613A>G |
p.K538R |
Missense |
13/28 |
- |
1 |
7-55229306-A-T |
c.1613A>T |
p.K538M |
Missense |
13/28 |
- |
1 |
7-55229307-G-C |
c.1614G>C |
p.K538N |
Missense |
13/28 |
- |
1 |
7-55229307-G-T |
c.1614G>T |
p.K538N |
Missense |
13/28 |
- |
1 |
7-55229309-G-T |
c.1616G>T |
p.C539F |
Missense |
13/28 |
- |
1 |
7-55229314-C-T |
c.1621C>T |
p.L541F |
Missense |
13/28 |
- |
1 |
7-55229319-G-GT |
c.1626_1627insT |
p.E543* |
Nonsense |
13/28 |
- |
1 |
7-55229320-G-A |
c.1627G>A |
p.E543K |
Missense |
13/28 |
- |
2 |
7-55229320-G-ATGA |
c.1627delinsATGA |
p.E543delinsMK |
MultiAAMissense |
13/28 |
- |
1 |
7-55229320-G-T |
c.1627G>T |
p.E543* |
Nonsense |
13/28 |
- |
1 |
7-55229318-TGGA-T |
c.1628_1630del |
p.E543del |
InFrameDeletion |
13/28 |
- |
1 |
7-55229321-A-G |
c.1628A>G |
p.E543G |
Missense |
13/28 |
- |
1 |
7-55229322-G-GTA |
c.1629_1630insTA |
p.G544* |
SpliceDonorInsertion |
13/28 |
- |
1 |
7-55229329-G-A |
c.1631+5G>A |
- |
IntronicSNV |
- |
13/27 |
1 |
7-55229543-T-C |
c.1631+219T>C |
- |
IntronicSNV |
- |
13/27 |
12 |
7-55230105-C-T |
c.1631+781C>T |
- |
IntronicSNV |
- |
13/27 |
9 |
7-55230840-A-G |
c.1632-586A>G |
- |
IntronicSNV |
- |
13/27 |
2 |
7-55230840-A-T |
c.1632-586A>T |
- |
IntronicSNV |
- |
13/27 |
2 |
7-55231426-T-C |
c.1632T>C |
p.G544= |
Synonymous |
14/28 |
- |
2 |
7-55231427-G-A |
c.1633G>A |
p.E545K |
Missense |
14/28 |
- |
62 |
7-55231427-G-T |
c.1633G>T |
p.E545* |
Nonsense |
14/28 |
- |
1 |
7-55231427-G-C |
c.1633G>C |
p.E545Q |
Missense |
14/28 |
- |
2 |
7-55231428-A-C |
c.1634A>C |
p.E545A |
Missense |
14/28 |
- |
4 |
7-55231428-A-G |
c.1634A>G |
p.E545G |
Missense |
14/28 |
- |
1 |
7-55231430-C-T |
c.1636C>T |
p.P546S |
Missense |
14/28 |
- |
3 |
7-55231430-C-A |
c.1636C>A |
p.P546T |
Missense |
14/28 |
- |
2 |
7-55231430-C-G |
c.1636C>G |
p.P546A |
Missense |
14/28 |
- |
1 |
7-55231431-C-T |
c.1637C>T |
p.P546L |
Missense |
14/28 |
- |
1 |
7-55231432-A-G |
c.1638A>G |
p.P546= |
Synonymous |
14/28 |
- |
1 |
7-55231433-AG-TA |
c.1639_1640delinsTA |
p.R547* |
Nonsense |
14/28 |
- |
1 |
7-55231433-AG-GC |
c.1639_1640delinsGC |
p.R547A |
Missense |
14/28 |
- |
1 |
7-55231436-G-C |
c.1642G>C |
p.E548Q |
Missense |
14/28 |
- |
1 |
7-55231436-GA-TC |
c.1642_1643inv |
p.E548S |
Missense |
14/28 |
- |
2 |
7-55231439-T-C |
c.1645T>C |
p.F549L |
Missense |
14/28 |
- |
2 |
7-55231441-T-A |
c.1647T>A |
p.F549L |
Missense |
14/28 |
- |
2 |
7-55231441-T-G |
c.1647T>G |
p.F549L |
Missense |
14/28 |
- |
2 |
7-55231440-T-C |
c.1646T>C |
p.F549S |
Missense |
14/28 |
- |
1 |
7-55231442-G-A |
c.1648G>A |
p.V550M |
Missense |
14/28 |
- |
1 |
7-55231443-T-A |
c.1649T>A |
p.V550E |
Missense |
14/28 |
- |
2 |
7-55231447-G-C |
c.1653G>C |
p.E551D |
Missense |
14/28 |
- |
1 |
7-55231449-AC-GG |
c.1655_1656delinsGG |
p.N552R |
Missense |
14/28 |
- |
1 |
7-55231449-A-C |
c.1655A>C |
p.N552T |
Missense |
14/28 |
- |
1 |
7-55231452-C-T |
c.1658C>T |
p.S553F |
Missense |
14/28 |
- |
1 |
7-55231454-G-C |
c.1660G>C |
p.E554Q |
Missense |
14/28 |
- |
1 |
7-55231460-AT-GC |
c.1666_1667delinsGC |
p.I556A |
Missense |
14/28 |
- |
1 |
7-55231461-T-A |
c.1667T>A |
p.I556K |
Missense |
14/28 |
- |
2 |
7-55231466-GTGC-G |
c.1672_1674del |
p.C558del |
InFrameDeletion |
14/28 |
- |
1 |
7-55231466-TG-GC |
c.1672_1673delinsGC |
p.C558A |
Missense |
14/28 |
- |
1 |
7-55231467-G-A |
c.1673G>A |
p.C558Y |
Missense |
14/28 |
- |
2 |
7-55231467-TGCCACC-T |
c.1673_1678del |
p.C558_P560delinsS |
MultiAAMissense |
14/28 |
- |
1 |
7-55231471-C-G |
c.1677C>G |
p.H559Q |
Missense |
14/28 |
- |
1 |
7-55231475-G-A |
c.1681G>A |
p.E561K |
Missense |
14/28 |
- |
1 |
7-55231475-G-C |
c.1681G>C |
p.E561Q |
Missense |
14/28 |
- |
1 |
7-55231482-T-C |
c.1688T>C |
p.L563P |
Missense |
14/28 |
- |
1 |
7-55231484-C-A |
c.1690C>A |
p.P564T |
Missense |
14/28 |
- |
1 |
7-55231484-C-G |
c.1690C>G |
p.P564A |
Missense |
14/28 |
- |
1 |
7-55231485-C-T |
c.1691C>T |
p.P564L |
Missense |
14/28 |
- |
2 |
7-55231487-C-G |
c.1693C>G |
p.Q565E |
Missense |
14/28 |
- |
1 |
7-55231490-G-A |
c.1696G>A |
p.A566T |
Missense |
14/28 |
- |
1 |
7-55231493-A-G |
c.1699A>G |
p.M567V |
Missense |
14/28 |
- |
1 |
7-55231495-G-C |
c.1701G>C |
p.M567I |
Missense |
14/28 |
- |
1 |
7-55231495-G-A |
c.1701G>A |
p.M567I |
Missense |
14/28 |
- |
1 |
7-55231495-G-T |
c.1701G>T |
p.M567I |
Missense |
14/28 |
- |
1 |
7-55231503-C-G |
c.1709C>G |
p.T570S |
Missense |
14/28 |
- |
1 |
7-55231506-G-C |
c.1712G>C |
p.C571S |
Missense |
14/28 |
- |
1 |
7-55231506-G-A |
c.1712G>A |
p.C571Y |
Missense |
14/28 |
- |
1 |
7-55231509-C-G |
c.1715C>G |
p.T572R |
Missense |
14/28 |
- |
2 |
7-55231511-G-T |
c.1717G>T |
p.G573* |
Nonsense |
14/28 |
- |
1 |
7-55231511-G-A |
c.1717G>A |
p.G573R |
Missense |
14/28 |
- |
1 |
7-55231511-G-C |
c.1717G>C |
p.G573R |
Missense |
14/28 |
- |
1 |
7-55231514-C-T |
c.1720C>T |
p.R574W |
Missense |
14/28 |
- |
2 |
7-55231514-CGG-AGC |
c.1720_1722delinsAGC |
p.R574S |
Missense |
14/28 |
- |
1 |
7-55231515-G-T |
c.1721G>T |
p.R574L |
Missense |
14/28 |
- |
2 |
7-55231588-G-A |
c.1722+72G>A |
- |
IntronicSNV |
- |
14/27 |
1 |
7-55232246-T-C |
c.1723-727T>C |
- |
IntronicSNV |
- |
14/27 |
3 |
7-55232333-A-G |
c.1723-640A>G |
- |
IntronicSNV |
- |
14/27 |
3 |
7-55232973-G-A |
c.1723G>A |
p.G575R |
Missense |
15/28 |
- |
1 |
7-55232973-G-C |
c.1723G>C |
p.G575R |
Missense |
15/28 |
- |
1 |
7-55232974-G-A |
c.1724G>A |
p.G575E |
Missense |
15/28 |
- |
1 |
7-55232976-C-A |
c.1726C>A |
p.P576T |
Missense |
15/28 |
- |
1 |
7-55232981-C-A |
c.1731C>A |
p.D577E |
Missense |
15/28 |
- |
1 |
7-55232982-A-G |
c.1732A>G |
p.N578D |
Missense |
15/28 |
- |
1 |
7-55232984-AC-A |
c.1734del |
p.C579Vfs*126 |
Frameshift |
15/28 |
- |
1 |
7-55232986-G-A |
c.1736G>A |
p.C579Y |
Missense |
15/28 |
- |
2 |
7-55232988-A-G |
c.1738A>G |
p.I580V |
Missense |
15/28 |
- |
1 |
7-55232991-CA-AC |
c.1741_1742delinsAC |
p.Q581T |
Missense |
15/28 |
- |
1 |
7-55232993-G-T |
c.1743G>T |
p.Q581H |
Missense |
15/28 |
- |
1 |
7-55233001-A-G |
c.1751A>G |
p.H584R |
Missense |
15/28 |
- |
1 |
7-55233004-A-AAATCTGT |
c.1754_1755insAATCTGT |
p.Y585* |
Nonsense |
15/28 |
- |
1 |
7-55233006-A-G |
c.1756A>G |
p.I586V |
Missense |
15/28 |
- |
2 |
7-55233009-G-C |
c.1759G>C |
p.D587H |
Missense |
15/28 |
- |
3 |
7-55233012-G-A |
c.1762G>A |
p.G588S |
Missense |
15/28 |
- |
4 |
7-55233013-G-A |
c.1763G>A |
p.G588D |
Missense |
15/28 |
- |
1 |
7-55233015-C-T |
c.1765C>T |
p.P589S |
Missense |
15/28 |
- |
1 |
7-55233016-C-T |
c.1766C>T |
p.P589L |
Missense |
15/28 |
- |
3 |
7-55233016-C-A |
c.1766C>A |
p.P589H |
Missense |
15/28 |
- |
1 |
7-55233013-GC-G |
c.1768del |
p.H590Tfs*115 |
Frameshift |
15/28 |
- |
1 |
7-55233019-A-G |
c.1769A>G |
p.H590R |
Missense |
15/28 |
- |
1 |
7-55233021-TG-AC |
c.1771_1772delinsAC |
p.C591T |
Missense |
15/28 |
- |
1 |
7-55233024-G-A |
c.1774G>A |
p.V592I |
Missense |
15/28 |
- |
10 |
7-55233024-G-T |
c.1774G>T |
p.V592F |
Missense |
15/28 |
- |
1 |
7-55233025-T-C |
c.1775T>C |
p.V592A |
Missense |
15/28 |
- |
3 |
7-55233025-TC-AG |
c.1775_1776delinsAG |
p.V592E |
Missense |
15/28 |
- |
2 |
7-55233028-A-G |
c.1778A>G |
p.K593R |
Missense |
15/28 |
- |
1 |
7-55233028-A-C |
c.1778A>C |
p.K593T |
Missense |
15/28 |
- |
1 |
7-55233029-G-T |
c.1779G>T |
p.K593N |
Missense |
15/28 |
- |
1 |
7-55233031-C-T |
c.1781C>T |
p.T594I |
Missense |
15/28 |
- |
1 |
7-55233032-C-A |
c.1782C>A |
p.T594= |
Synonymous |
15/28 |
- |
1 |
7-55233032-C-G |
c.1782C>G |
p.T594= |
Synonymous |
15/28 |
- |
1 |
7-55233032-C-T |
c.1782C>T |
p.T594= |
Synonymous |
15/28 |
- |
1 |
7-55233033-T-G |
c.1783T>G |
p.C595G |
Missense |
15/28 |
- |
1 |
7-55233034-G-T |
c.1784G>T |
p.C595F |
Missense |
15/28 |
- |
1 |
7-55233034-G-A |
c.1784G>A |
p.C595Y |
Missense |
15/28 |
- |
2 |
7-55233035-C-G |
c.1785C>G |
p.C595W |
Missense |
15/28 |
- |
1 |
7-55233036-C-T |
c.1786C>T |
p.P596S |
Missense |
15/28 |
- |
1 |
7-55233037-C-T |
c.1787C>T |
p.P596L |
Missense |
15/28 |
- |
18 |
7-55233037-C-G |
c.1787C>G |
p.P596R |
Missense |
15/28 |
- |
1 |
7-55233038-G-C |
c.1788G>C |
p.P596= |
Synonymous |
15/28 |
- |
3 |
7-55233038-G-A |
c.1788G>A |
p.P596= |
Synonymous |
15/28 |
- |
3 |
7-55233038-G-T |
c.1788G>T |
p.P596= |
Synonymous |
15/28 |
- |
1 |
7-55233039-G-C |
c.1789G>C |
p.A597P |
Missense |
15/28 |
- |
2 |
7-55233039-G-T |
c.1789G>T |
p.A597S |
Missense |
15/28 |
- |
1 |
7-55233039-G-A |
c.1789G>A |
p.A597T |
Missense |
15/28 |
- |
1 |
7-55233040-C-T |
c.1790C>T |
p.A597V |
Missense |
15/28 |
- |
1 |
7-55233042-G-A |
c.1792G>A |
p.G598R |
Missense |
15/28 |
- |
1 |
7-55233042-G-C |
c.1792G>C |
p.G598R |
Missense |
15/28 |
- |
1 |
7-55233042-G-T |
c.1792G>T |
p.G598* |
Nonsense |
15/28 |
- |
1 |
7-55233043-G-T |
c.1793G>T |
p.G598V |
Missense |
15/28 |
- |
72 |
7-55233043-G-C |
c.1793G>C |
p.G598A |
Missense |
15/28 |
- |
3 |
7-55233043-GA-AC |
c.1793_1794delinsAC |
p.G598D |
Missense |
15/28 |
- |
4 |
7-55233043-G-A |
c.1793G>A |
p.G598E |
Missense |
15/28 |
- |
1 |
7-55233045-GTC-ATG |
c.1795_1797delinsATG |
p.V599M |
Missense |
15/28 |
- |
2 |
7-55233045-GTC-AAG |
c.1795_1797delinsAAG |
p.V599K |
Missense |
15/28 |
- |
1 |
7-55233046-T-A |
c.1796T>A |
p.V599D |
Missense |
15/28 |
- |
3 |
7-55233046-TC-AG |
c.1796_1797delinsAG |
p.V599E |
Missense |
15/28 |
- |
66 |
7-55233048-A-G |
c.1798A>G |
p.M600V |
Missense |
15/28 |
- |
1 |
7-55233049-T-C |
c.1799T>C |
p.M600T |
Missense |
15/28 |
- |
3 |
7-55233049-T-A |
c.1799T>A |
p.M600K |
Missense |
15/28 |
- |
4 |
7-55233051-GGA-AGC |
c.1801_1803delinsAGC |
p.G601S |
Missense |
15/28 |
- |
1 |
7-55233052-G-A |
c.1802G>A |
p.G601E |
Missense |
15/28 |
- |
2 |
7-55233054-G-A |
c.1804G>A |
p.E602K |
Missense |
15/28 |
- |
2 |
7-55233054-GA-AC |
c.1804_1805delinsAC |
p.E602T |
Missense |
15/28 |
- |
1 |
7-55233055-A-C |
c.1805A>C |
p.E602A |
Missense |
15/28 |
- |
1 |
7-55233057-A-G |
c.1807A>G |
p.N603D |
Missense |
15/28 |
- |
1 |
7-55233060-A-G |
c.1810A>G |
p.N604D |
Missense |
15/28 |
- |
2 |
7-55233061-A-C |
c.1811A>C |
p.N604T |
Missense |
15/28 |
- |
1 |
7-55233063-A-G |
c.1813A>G |
p.T605A |
Missense |
15/28 |
- |
1 |
7-55233064-C-A |
c.1814C>A |
p.T605N |
Missense |
15/28 |
- |
1 |
7-55233065-C-A |
c.1815C>A |
p.T605= |
Synonymous |
15/28 |
- |
1 |
7-55233065-C-G |
c.1815C>G |
p.T605= |
Synonymous |
15/28 |
- |
1 |
7-55233065-C-T |
c.1815C>T |
p.T605= |
Synonymous |
15/28 |
- |
1 |
7-55233074-GAAGT-G |
c.1826_1829del |
p.K609Tfs*95 |
Frameshift |
15/28 |
- |
1 |
7-55233079-A-G |
c.1829A>G |
p.Y610C |
Missense |
15/28 |
- |
3 |
7-55233081-G-C |
c.1831G>C |
p.A611P |
Missense |
15/28 |
- |
1 |
7-55233081-G-A |
c.1831G>A |
p.A611T |
Missense |
15/28 |
- |
4 |
7-55233087-G-A |
c.1837G>A |
p.A613T |
Missense |
15/28 |
- |
1 |
7-55233089-C-A |
c.1839C>A |
p.A613= |
Synonymous |
15/28 |
- |
2 |
7-55233089-C-T |
c.1839C>T |
p.A613= |
Synonymous |
15/28 |
- |
4 |
7-55233089-C-G |
c.1839C>G |
p.A613= |
Synonymous |
15/28 |
- |
1 |
7-55233090-G-A |
c.1840G>A |
p.G614S |
Missense |
15/28 |
- |
2 |
7-55233091-G-A |
c.1841G>A |
p.G614D |
Missense |
15/28 |
- |
1 |
7-55233096-G-C |
c.1846G>C |
p.V616L |
Missense |
15/28 |
- |
1 |
7-55233096-G-T |
c.1846G>T |
p.V616L |
Missense |
15/28 |
- |
1 |
7-55233098-TG-T |
c.1848del |
p.C617Afs*88 |
Frameshift |
15/28 |
- |
1 |
7-55233099-T-C |
c.1849T>C |
p.C617R |
Missense |
15/28 |
- |
1 |
7-55233100-G-A |
c.1850G>A |
p.C617Y |
Missense |
15/28 |
- |
1 |
7-55233102-C-T |
c.1852C>T |
p.H618Y |
Missense |
15/28 |
- |
1 |
7-55233103-A-C |
c.1853A>C |
p.H618P |
Missense |
15/28 |
- |
1 |
7-55233103-A-T |
c.1853A>T |
p.H618L |
Missense |
15/28 |
- |
1 |
7-55233106-TG-CA |
c.1856_1857inv |
p.L619P |
Missense |
15/28 |
- |
1 |
7-55233107-G-T |
c.1857G>T |
p.L619= |
Synonymous |
15/28 |
- |
1 |
7-55233107-G-A |
c.1857G>A |
p.L619= |
Synonymous |
15/28 |
- |
1 |
7-55233107-G-C |
c.1857G>C |
p.L619= |
Synonymous |
15/28 |
- |
1 |
7-55233105-C-T |
c.1855C>T |
p.L619= |
Synonymous |
15/28 |
- |
1 |
7-55233108-TG-GC |
c.1858_1859delinsGC |
p.C620A |
Missense |
15/28 |
- |
2 |
7-55233108-T-A |
c.1858T>A |
p.C620S |
Missense |
15/28 |
- |
1 |
7-55233109-G-C |
c.1859G>C |
p.C620S |
Missense |
15/28 |
- |
1 |
7-55233108-T-C |
c.1858T>C |
p.C620R |
Missense |
15/28 |
- |
1 |
7-55233109-G-A |
c.1859G>A |
p.C620Y |
Missense |
15/28 |
- |
6 |
7-55233110-C-G |
c.1860C>G |
p.C620W |
Missense |
15/28 |
- |
1 |
7-55233112-A-G |
c.1862A>G |
p.H621R |
Missense |
15/28 |
- |
1 |
7-55233114-C-T |
c.1864C>T |
p.P622S |
Missense |
15/28 |
- |
1 |
7-55233117-A-G |
c.1867A>G |
p.N623D |
Missense |
15/28 |
- |
1 |
7-55233119-C-A |
c.1869C>A |
p.N623K |
Missense |
15/28 |
- |
1 |
7-55233120-TG-GC |
c.1870_1871delinsGC |
p.C624A |
Missense |
15/28 |
- |
2 |
7-55233120-TG-AC |
c.1870_1871delinsAC |
p.C624T |
Missense |
15/28 |
- |
1 |
7-55233120-T-A |
c.1870T>A |
p.C624S |
Missense |
15/28 |
- |
1 |
7-55233121-G-C |
c.1871G>C |
p.C624S |
Missense |
15/28 |
- |
1 |
7-55233121-G-A |
c.1871G>A |
p.C624Y |
Missense |
15/28 |
- |
1 |
7-55233121-G-T |
c.1871G>T |
p.C624F |
Missense |
15/28 |
- |
3 |
7-55233126-T-C |
c.1876T>C |
p.Y626H |
Missense |
15/28 |
- |
1 |
7-55233128-C-T |
c.1878C>T |
p.Y626= |
Synonymous |
15/28 |
- |
1 |
7-55233129-G-T |
c.1879G>T |
p.G627* |
Nonsense |
15/28 |
- |
1 |
7-55233129-G-A |
c.1879G>A |
p.G627R |
Missense |
15/28 |
- |
1 |
7-55233129-G-C |
c.1879G>C |
p.G627R |
Missense |
15/28 |
- |
1 |
7-55233130-G-A |
c.1880G>A |
p.G627E |
Missense |
15/28 |
- |
1 |
7-55233132-T-C |
c.1880+2T>C |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55233140-A-G |
c.1880+10A>G |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55233915-A-T |
c.1880+785A>T |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55236020-T-C |
c.1881-2848T>C |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55237283-A-G |
c.1881-1585A>G |
- |
IntronicSNV |
- |
15/27 |
2 |
7-55238087-C-T |
c.1881-781C>T |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55238147-G-A |
c.1881-721G>A |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55238212-T-A |
c.1881-656T>A |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55238212-T-C |
c.1881-656T>C |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55238268-G-A |
c.1881-600G>A |
- |
IntronicSNV |
- |
15/27 |
7 |
7-55238268-G-C |
c.1881-600G>C |
- |
IntronicSNV |
- |
15/27 |
7 |
7-55238268-G-T |
c.1881-600G>T |
- |
IntronicSNV |
- |
15/27 |
7 |
7-55238464-T-A |
c.1881-404T>A |
- |
IntronicSNV |
- |
15/27 |
2 |
7-55238464-T-G |
c.1881-404T>G |
- |
IntronicSNV |
- |
15/27 |
2 |
7-55238866-A-C |
c.1881-2A>C |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55238866-A-G |
c.1881-2A>G |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55238870-G-A |
c.1883G>A |
p.C628Y |
Missense |
16/28 |
- |
2 |
7-55238870-G-T |
c.1883G>T |
p.C628F |
Missense |
16/28 |
- |
5 |
7-55238874-T-A |
c.1887T>A |
p.T629= |
Synonymous |
16/28 |
- |
5 |
7-55238874-T-G |
c.1887T>G |
p.T629= |
Synonymous |
16/28 |
- |
6 |
7-55238874-T-C |
c.1887T>C |
p.T629= |
Synonymous |
16/28 |
- |
2 |
7-55238879-C-G |
c.1892C>G |
p.P631R |
Missense |
16/28 |
- |
1 |
7-55238883-T-G |
c.1896T>G |
p.G632= |
Synonymous |
16/28 |
- |
2 |
7-55238883-T-A |
c.1896T>A |
p.G632= |
Synonymous |
16/28 |
- |
1 |
7-55238883-T-C |
c.1896T>C |
p.G632= |
Synonymous |
16/28 |
- |
1 |
7-55238884-C-G |
c.1897C>G |
p.L633V |
Missense |
16/28 |
- |
1 |
7-55238884-C-T |
c.1897C>T |
p.L633F |
Missense |
16/28 |
- |
2 |
7-55238882-GTCT-G |
c.1897_1899del |
p.L633del |
InFrameDeletion |
16/28 |
- |
2 |
7-55238891-G-A |
c.1904G>A |
p.G635D |
Missense |
16/28 |
- |
1 |
7-55238894-G-A |
c.1907G>A |
p.C636Y |
Missense |
16/28 |
- |
3 |
7-55238894-G-T |
c.1907G>T |
p.C636F |
Missense |
16/28 |
- |
1 |
7-55238895-T-G |
c.1908T>G |
p.C636W |
Missense |
16/28 |
- |
1 |
7-55238896-C-T |
c.1909C>T |
p.P637S |
Missense |
16/28 |
- |
1 |
7-55238899-A-C |
c.1912A>C |
p.T638P |
Missense |
16/28 |
- |
1 |
7-55238897-CA-C |
c.1912del |
p.T638Rfs*67 |
Frameshift |
16/28 |
- |
1 |
7-55238900-C-T |
c.1913C>T |
p.T638M |
Missense |
16/28 |
- |
5 |
7-55238904-T-G |
c.1917T>G |
p.N639K |
Missense |
16/28 |
- |
1 |
7-55238904-T-A |
c.1917T>A |
p.N639K |
Missense |
16/28 |
- |
1 |
7-55238908-T-C |
c.1919+2T>C |
- |
IntronicSNV |
- |
16/27 |
1 |
7-55239979-G-A |
c.1920-697G>A |
- |
IntronicSNV |
- |
16/27 |
1 |
7-55240461-G-C |
c.1920-215G>C |
- |
IntronicSNV |
- |
16/27 |
3 |
7-55240678-C-A |
c.1922C>A |
p.P641H |
Missense |
17/28 |
- |
1 |
7-55240680-A-G |
c.1924A>G |
p.K642E |
Missense |
17/28 |
- |
8 |
7-55240680-AA-GG |
c.1924_1925delinsGG |
p.K642G |
Missense |
17/28 |
- |
2 |
7-55240681-A-G |
c.1925A>G |
p.K642R |
Missense |
17/28 |
- |
1 |
7-55240683-A-G |
c.1927A>G |
p.I643V |
Missense |
17/28 |
- |
3 |
7-55240684-T-C |
c.1928T>C |
p.I643T |
Missense |
17/28 |
- |
1 |
7-55240685-C-A |
c.1929C>A |
p.I643= |
Synonymous |
17/28 |
- |
1 |
7-55240685-C-T |
c.1929C>T |
p.I643= |
Synonymous |
17/28 |
- |
1 |
7-55240686-C-T |
c.1930C>T |
p.P644S |
Missense |
17/28 |
- |
1 |
7-55240687-C-T |
c.1931C>T |
p.P644L |
Missense |
17/28 |
- |
3 |
7-55240688-G-T |
c.1932G>T |
p.P644= |
Synonymous |
17/28 |
- |
2 |
7-55240688-G-A |
c.1932G>A |
p.P644= |
Synonymous |
17/28 |
- |
1 |
7-55240688-G-C |
c.1932G>C |
p.P644= |
Synonymous |
17/28 |
- |
1 |
7-55240689-T-G |
c.1933T>G |
p.S645A |
Missense |
17/28 |
- |
1 |
7-55240690-C-G |
c.1934C>G |
p.S645C |
Missense |
17/28 |
- |
11 |
7-55240693-T-G |
c.1937T>G |
p.I646S |
Missense |
17/28 |
- |
2 |
7-55240693-TC-GG |
c.1937_1938delinsGG |
p.I646R |
Missense |
17/28 |
- |
1 |
7-55240694-C-T |
c.1938C>T |
p.I646= |
Synonymous |
17/28 |
- |
1 |
7-55240694-C-A |
c.1938C>A |
p.I646= |
Synonymous |
17/28 |
- |
1 |
7-55240692-A-ATCAAG |
c.1938_1939insAAGTC |
p.A647Kfs*60 |
Frameshift |
17/28 |
- |
1 |
7-55240695-G-A |
c.1939G>A |
p.A647T |
Missense |
17/28 |
- |
6 |
7-55240696-C-T |
c.1940C>T |
p.A647V |
Missense |
17/28 |
- |
1 |
7-55240699-C-T |
c.1943C>T |
p.T648I |
Missense |
17/28 |
- |
1 |
7-55240700-T-G |
c.1944T>G |
p.T648= |
Synonymous |
17/28 |
- |
1 |
7-55240702-G-T |
c.1946G>T |
p.G649V |
Missense |
17/28 |
- |
1 |
7-55240702-G-C |
c.1946G>C |
p.G649A |
Missense |
17/28 |
- |
2 |
7-55240707-G-C |
c.1951G>C |
p.V651L |
Missense |
17/28 |
- |
1 |
7-55240707-G-T |
c.1951G>T |
p.V651L |
Missense |
17/28 |
- |
1 |
7-55240707-G-A |
c.1951G>A |
p.V651M |
Missense |
17/28 |
- |
4 |
7-55240709-G-A |
c.1953G>A |
p.V651= |
Synonymous |
17/28 |
- |
2 |
7-55240710-G-T |
c.1954G>T |
p.G652W |
Missense |
17/28 |
- |
3 |
7-55240711-GG-AC |
c.1955_1956delinsAC |
p.G652D |
Missense |
17/28 |
- |
1 |
7-55240711-G-T |
c.1955G>T |
p.G652V |
Missense |
17/28 |
- |
1 |
7-55240711-G-A |
c.1955G>A |
p.G652E |
Missense |
17/28 |
- |
1 |
7-55240712-G-A |
c.1956G>A |
p.G652= |
Synonymous |
17/28 |
- |
1 |
7-55240713-G-C |
c.1957G>C |
p.A653P |
Missense |
17/28 |
- |
1 |
7-55240719-C-T |
c.1963C>T |
p.L655F |
Missense |
17/28 |
- |
1 |
7-55240719-C-G |
c.1963C>G |
p.L655V |
Missense |
17/28 |
- |
1 |
7-55240720-T-G |
c.1964T>G |
p.L655R |
Missense |
17/28 |
- |
1 |
7-55240729-T-A |
c.1973T>A |
p.L658Q |
Missense |
17/28 |
- |
1 |
7-55240729-T-G |
c.1973T>G |
p.L658R |
Missense |
17/28 |
- |
1 |
7-55240731-G-C |
c.1975G>C |
p.V659L |
Missense |
17/28 |
- |
1 |
7-55240731-G-T |
c.1975G>T |
p.V659L |
Missense |
17/28 |
- |
1 |
7-55240732-T-A |
c.1976T>A |
p.V659E |
Missense |
17/28 |
- |
6 |
7-55240732-T-C |
c.1976T>C |
p.V659A |
Missense |
17/28 |
- |
1 |
7-55240734-G-A |
c.1978G>A |
p.V660M |
Missense |
17/28 |
- |
1 |
7-55240735-T-A |
c.1979T>A |
p.V660E |
Missense |
17/28 |
- |
6 |
7-55240737-GC-TG |
c.1981_1982delinsTG |
p.A661C |
Missense |
17/28 |
- |
3 |
7-55240737-GC-AT |
c.1981_1982delinsAT |
p.A661I |
Missense |
17/28 |
- |
1 |
7-55240737-G-T |
c.1981G>T |
p.A661S |
Missense |
17/28 |
- |
1 |
7-55240744-G-A |
c.1988G>A |
p.G663E |
Missense |
17/28 |
- |
2 |
7-55240746-GA-G |
c.1990del |
p.I664Sfs*41 |
Frameshift |
17/28 |
- |
1 |
7-55240746-A-T |
c.1990A>T |
p.I664F |
Missense |
17/28 |
- |
2 |
7-55240748-C-T |
c.1992C>T |
p.I664= |
Synonymous |
17/28 |
- |
1 |
7-55240749-G-A |
c.1993G>A |
p.G665S |
Missense |
17/28 |
- |
1 |
7-55240750-G-C |
c.1994G>C |
p.G665A |
Missense |
17/28 |
- |
1 |
7-55240750-G-A |
c.1994G>A |
p.G665D |
Missense |
17/28 |
- |
2 |
7-55240750-G-T |
c.1994G>T |
p.G665V |
Missense |
17/28 |
- |
1 |
7-55240753-T-C |
c.1997T>C |
p.L666P |
Missense |
17/28 |
- |
1 |
7-55240754-C-T |
c.1998C>T |
p.L666= |
Synonymous |
17/28 |
- |
1 |
7-55240754-C-G |
c.1998C>G |
p.L666= |
Synonymous |
17/28 |
- |
1 |
7-55240754-C-A |
c.1998C>A |
p.L666= |
Synonymous |
17/28 |
- |
1 |
7-55240756-T-G |
c.2000T>G |
p.F667C |
Missense |
17/28 |
- |
2 |
7-55240756-TCATGCGAAGGCGC-T |
c.2003_2015del |
p.M668Tfs*33 |
Frameshift |
17/28 |
- |
1 |
7-55240761-CGA-TGT |
c.2005_2007delinsTGT |
p.R669C |
Missense |
17/28 |
- |
1 |
7-55240761-C-T |
c.2005C>T |
p.R669* |
Nonsense |
17/28 |
- |
3 |
7-55240762-G-A |
c.2006G>A |
p.R669Q |
Missense |
17/28 |
- |
5 |
7-55240762-CG-C |
c.2006del |
p.R669Qfs*36 |
Frameshift |
17/28 |
- |
1 |
7-55240764-A-T |
c.2008A>T |
p.R670W |
Missense |
17/28 |
- |
7 |
7-55240767-C-T |
c.2011C>T |
p.R671C |
Missense |
17/28 |
- |
4 |
7-55240768-G-A |
c.2012G>A |
p.R671H |
Missense |
17/28 |
- |
4 |
7-55240770-C-T |
c.2014C>T |
p.H672Y |
Missense |
17/28 |
- |
1 |
7-55240775-C-T |
c.2019C>T |
p.I673= |
Synonymous |
17/28 |
- |
2 |
7-55240776-G-T |
c.2020G>T |
p.V674F |
Missense |
17/28 |
- |
2 |
7-55240776-G-A |
c.2020G>A |
p.V674I |
Missense |
17/28 |
- |
1 |
7-55240779-C-T |
c.2023C>T |
p.R675W |
Missense |
17/28 |
- |
1 |
7-55240779-CG-GA |
c.2023_2024delinsGA |
p.R675E |
Missense |
17/28 |
- |
1 |
7-55240780-G-A |
c.2024G>A |
p.R675Q |
Missense |
17/28 |
- |
3 |
7-55240780-GG-AT |
c.2024_2025delinsAT |
p.R675H |
Missense |
17/28 |
- |
1 |
7-55240783-A-G |
c.2027A>G |
p.K676R |
Missense |
17/28 |
- |
1 |
7-55240784-G-A |
c.2028G>A |
p.K676= |
Synonymous |
17/28 |
- |
1 |
7-55240785-C-T |
c.2029C>T |
p.R677C |
Missense |
17/28 |
- |
5 |
7-55240785-CGC-TGG |
c.2029_2031delinsTGG |
p.R677W |
Missense |
17/28 |
- |
1 |
7-55240785-CG-GC |
c.2029_2030delinsGC |
p.R677A |
Missense |
17/28 |
- |
1 |
7-55240786-G-A |
c.2030G>A |
p.R677H |
Missense |
17/28 |
- |
8 |
7-55240788-A-G |
c.2032A>G |
p.T678A |
Missense |
17/28 |
- |
3 |
7-55240788-A-C |
c.2032A>C |
p.T678P |
Missense |
17/28 |
- |
1 |
7-55240789-C-T |
c.2033C>T |
p.T678M |
Missense |
17/28 |
- |
2 |
7-55240791-CTG-TTT |
c.2035_2037delinsTTT |
p.L679F |
Missense |
17/28 |
- |
4 |
7-55240791-CT-GC |
c.2035_2036delinsGC |
p.L679A |
Missense |
17/28 |
- |
1 |
7-55240794-C-A |
c.2038C>A |
p.R680= |
Synonymous |
17/28 |
- |
1 |
7-55240796-G-A |
c.2040G>A |
p.R680= |
Synonymous |
17/28 |
- |
1 |
7-55240796-G-C |
c.2040G>C |
p.R680= |
Synonymous |
17/28 |
- |
1 |
7-55240796-G-T |
c.2040G>T |
p.R680= |
Synonymous |
17/28 |
- |
1 |
7-55240794-C-T |
c.2038C>T |
p.R680W |
Missense |
17/28 |
- |
3 |
7-55240795-G-A |
c.2039G>A |
p.R680Q |
Missense |
17/28 |
- |
6 |
7-55240799-G-A |
c.2043G>A |
p.R681= |
Synonymous |
17/28 |
- |
1 |
7-55240800-C-A |
c.2044C>A |
p.L682M |
Missense |
17/28 |
- |
1 |
7-55240804-T-C |
c.2048T>C |
p.L683P |
Missense |
17/28 |
- |
1 |
7-55240807-A-G |
c.2051A>G |
p.Q684R |
Missense |
17/28 |
- |
1 |
7-55240809-G-A |
c.2053G>A |
p.E685K |
Missense |
17/28 |
- |
1 |
7-55240809-GA-TC |
c.2053_2054inv |
p.E685S |
Missense |
17/28 |
- |
2 |
7-55240810-A-G |
c.2054A>G |
p.E685G |
Missense |
17/28 |
- |
3 |
7-55240815-G-A |
c.2059G>A |
p.E687K |
Missense |
17/28 |
- |
1 |
7-55240816-A-C |
c.2060A>C |
p.E687A |
Missense |
17/28 |
- |
1 |
7-55240863-A-T |
c.2061+46A>T |
- |
IntronicSNV |
- |
17/27 |
1 |
7-55241510-C-A |
c.2062-104C>A |
- |
IntronicSNV |
- |
17/27 |
1 |
7-55241614-C-T |
c.2062C>T |
p.L688F |
Missense |
18/28 |
- |
4 |
7-55241615-T-C |
c.2063T>C |
p.L688P |
Missense |
18/28 |
- |
4 |
7-55241617-G-C |
c.2065G>C |
p.V689L |
Missense |
18/28 |
- |
9 |
7-55241617-G-T |
c.2065G>T |
p.V689L |
Missense |
18/28 |
- |
10 |
7-55241617-G-A |
c.2065G>A |
p.V689M |
Missense |
18/28 |
- |
15 |
7-55241617-GTG-TTT |
c.2065_2067delinsTTT |
p.V689F |
Missense |
18/28 |
- |
1 |
7-55241618-T-C |
c.2066T>C |
p.V689A |
Missense |
18/28 |
- |
1 |
7-55241619-G-A |
c.2067G>A |
p.V689= |
Synonymous |
18/28 |
- |
1 |
7-55241619-G-C |
c.2067G>C |
p.V689= |
Synonymous |
18/28 |
- |
1 |
7-55241619-G-T |
c.2067G>T |
p.V689= |
Synonymous |
18/28 |
- |
1 |
7-55241620-G-A |
c.2068G>A |
p.E690K |
Missense |
18/28 |
- |
6 |
7-55241622-G-C |
c.2070G>C |
p.E690D |
Missense |
18/28 |
- |
1 |
7-55241622-G-T |
c.2070G>T |
p.E690D |
Missense |
18/28 |
- |
1 |
7-55241623-C-A |
c.2071C>A |
p.P691T |
Missense |
18/28 |
- |
1 |
7-55241623-C-T |
c.2071C>T |
p.P691S |
Missense |
18/28 |
- |
4 |
7-55241626-C-G |
c.2074C>G |
p.L692V |
Missense |
18/28 |
- |
14 |
7-55241626-C-T |
c.2074C>T |
p.L692F |
Missense |
18/28 |
- |
1 |
7-55241627-T-C |
c.2075T>C |
p.L692P |
Missense |
18/28 |
- |
4 |
7-55241628-TTACACCCAGTGGAGA-T |
c.2076_2090del |
p.T693_E697del |
InFrameDeletion |
18/28 |
- |
1 |
7-55241629-A-G |
c.2077A>G |
p.T693A |
Missense |
18/28 |
- |
2 |
7-55241629-A-T |
c.2077A>T |
p.T693S |
Missense |
18/28 |
- |
1 |
7-55241629-TACACCCAGTGGAGAA-T |
c.2077_2091del |
p.T693_E697del |
InFrameDeletion |
18/28 |
- |
2 |
7-55241627-TTACACCCAG-T |
c.2077_2085del |
p.T693_S695del |
InFrameDeletion |
18/28 |
- |
1 |
7-55241630-C-T |
c.2078C>T |
p.T693I |
Missense |
18/28 |
- |
1 |
7-55241632-C-T |
c.2080C>T |
p.P694S |
Missense |
18/28 |
- |
4 |
7-55241633-C-T |
c.2081C>T |
p.P694L |
Missense |
18/28 |
- |
5 |
7-55241633-CCCAGTGGAGAAGCTCCCA-C |
c.2081_2098del |
p.P694_N700delinsH |
MultiAAMissense |
18/28 |
- |
1 |
7-55241634-C-A |
c.2082C>A |
p.P694= |
Synonymous |
18/28 |
- |
1 |
7-55241635-A-G |
c.2083A>G |
p.S695G |
Missense |
18/28 |
- |
1 |
7-55241636-G-A |
c.2084G>A |
p.S695N |
Missense |
18/28 |
- |
2 |
7-55241637-T-G |
c.2085T>G |
p.S695R |
Missense |
18/28 |
- |
1 |
7-55241637-T-A |
c.2085T>A |
p.S695R |
Missense |
18/28 |
- |
1 |
7-55241635-A-C |
c.2083A>C |
p.S695R |
Missense |
18/28 |
- |
1 |
7-55241638-G-A |
c.2086G>A |
p.G696R |
Missense |
18/28 |
- |
2 |
7-55241638-G-C |
c.2086G>C |
p.G696R |
Missense |
18/28 |
- |
2 |
7-55241639-G-C |
c.2087G>C |
p.G696A |
Missense |
18/28 |
- |
4 |
7-55241641-G-C |
c.2089G>C |
p.E697Q |
Missense |
18/28 |
- |
1 |
7-55241644-G-A |
c.2092G>A |
p.A698T |
Missense |
18/28 |
- |
5 |
7-55241647-C-T |
c.2095C>T |
p.P699S |
Missense |
18/28 |
- |
6 |
7-55241647-CC-GG |
c.2095_2096inv |
p.P699G |
Missense |
18/28 |
- |
1 |
7-55241648-C-G |
c.2096C>G |
p.P699R |
Missense |
18/28 |
- |
1 |
7-55241650-A-G |
c.2098A>G |
p.N700D |
Missense |
18/28 |
- |
7 |
7-55241651-A-G |
c.2099A>G |
p.N700S |
Missense |
18/28 |
- |
2 |
7-55241652-C-T |
c.2100C>T |
p.N700= |
Synonymous |
18/28 |
- |
1 |
7-55241652-ACCAAGCTCTCTTGAG-A |
c.2100_2114del |
p.N700_R705delinsK |
MultiAAMissense |
18/28 |
- |
1 |
7-55241653-C-A |
c.2101C>A |
p.Q701K |
Missense |
18/28 |
- |
2 |
7-55241653-C-T |
c.2101C>T |
p.Q701* |
Nonsense |
18/28 |
- |
1 |
7-55241653-CCAAGCTCTCTTGAGG-C |
c.2101_2115del |
p.Q701_R705del |
InFrameDeletion |
18/28 |
- |
2 |
7-55241651-ACCAAGCTCT-A |
c.2101_2109del |
p.Q701_L703del |
InFrameDeletion |
18/28 |
- |
1 |
7-55241653-CA-AC |
c.2101_2102delinsAC |
p.Q701T |
Missense |
18/28 |
- |
1 |
7-55241654-A-T |
c.2102A>T |
p.Q701L |
Missense |
18/28 |
- |
7 |
7-55241654-A-G |
c.2102A>G |
p.Q701R |
Missense |
18/28 |
- |
2 |
7-55241654-CAA-C |
c.2102_2103del |
p.Q701Rfs*10 |
Frameshift |
18/28 |
- |
1 |
7-55241656-G-A |
c.2104G>A |
p.A702T |
Missense |
18/28 |
- |
2 |
7-55241656-G-T |
c.2104G>T |
p.A702S |
Missense |
18/28 |
- |
5 |
7-55241657-C-T |
c.2105C>T |
p.A702V |
Missense |
18/28 |
- |
4 |
7-55241657-GCTCTCTTGAGGATCTTGA-G |
c.2105_2122del |
p.A702_K708delinsE |
MultiAAMissense |
18/28 |
- |
1 |
7-55241657-C-A |
c.2105C>A |
p.A702D |
Missense |
18/28 |
- |
3 |
7-55241658-T-A |
c.2106T>A |
p.A702= |
Synonymous |
18/28 |
- |
1 |
7-55241658-T-C |
c.2106T>C |
p.A702= |
Synonymous |
18/28 |
- |
1 |
7-55241658-T-G |
c.2106T>G |
p.A702= |
Synonymous |
18/28 |
- |
1 |
7-55241659-C-T |
c.2107C>T |
p.L703F |
Missense |
18/28 |
- |
6 |
7-55241659-C-G |
c.2107C>G |
p.L703V |
Missense |
18/28 |
- |
2 |
7-55241660-T-C |
c.2108T>C |
p.L703P |
Missense |
18/28 |
- |
6 |
7-55241661-C-T |
c.2109C>T |
p.L703= |
Synonymous |
18/28 |
- |
1 |
7-55241662-TTG-AAC |
c.2110_2112delinsAAC |
p.L704N |
Missense |
18/28 |
- |
9 |
7-55241663-T-C |
c.2111T>C |
p.L704S |
Missense |
18/28 |
- |
2 |
7-55241665-A-G |
c.2113A>G |
p.R705G |
Missense |
18/28 |
- |
3 |
7-55241666-G-A |
c.2114G>A |
p.R705K |
Missense |
18/28 |
- |
4 |
7-55241667-G-T |
c.2115G>T |
p.R705S |
Missense |
18/28 |
- |
1 |
7-55241667-G-C |
c.2115G>C |
p.R705S |
Missense |
18/28 |
- |
1 |
7-55241668-ATC-CAA |
c.2116_2118delinsCAA |
p.I706Q |
Missense |
18/28 |
- |
6 |
7-55241668-AT-TA |
c.2116_2117delinsTA |
p.I706Y |
Missense |
18/28 |
- |
1 |
7-55241669-T-C |
c.2117T>C |
p.I706T |
Missense |
18/28 |
- |
14 |
7-55241669-T-G |
c.2117T>G |
p.I706S |
Missense |
18/28 |
- |
1 |
7-55241671-TT-AG |
c.2119_2120delinsAG |
p.L707R |
Missense |
18/28 |
- |
1 |
7-55241672-T-C |
c.2120T>C |
p.L707S |
Missense |
18/28 |
- |
4 |
7-55241672-T-G |
c.2120T>G |
p.L707W |
Missense |
18/28 |
- |
4 |
7-55241673-G-T |
c.2121G>T |
p.L707F |
Missense |
18/28 |
- |
3 |
7-55241673-G-C |
c.2121G>C |
p.L707F |
Missense |
18/28 |
- |
3 |
7-55241674-A-G |
c.2122A>G |
p.K708E |
Missense |
18/28 |
- |
2 |
7-55241675-A-G |
c.2123A>G |
p.K708R |
Missense |
18/28 |
- |
1 |
7-55241675-A-T |
c.2123A>T |
p.K708M |
Missense |
18/28 |
- |
3 |
7-55241675-A-C |
c.2123A>C |
p.K708T |
Missense |
18/28 |
- |
1 |
7-55241676-G-C |
c.2124G>C |
p.K708N |
Missense |
18/28 |
- |
4 |
7-55241676-G-T |
c.2124G>T |
p.K708N |
Missense |
18/28 |
- |
5 |
7-55241676-G-GT |
c.2124_2125insT |
p.E709* |
Nonsense |
18/28 |
- |
1 |
7-55241677-G-A |
c.2125G>A |
p.E709K |
Missense |
18/28 |
- |
132 |
7-55241677-G-T |
c.2125G>T |
p.E709* |
Nonsense |
18/28 |
- |
52 |
7-55241677-G-C |
c.2125G>C |
p.E709Q |
Missense |
18/28 |
- |
10 |
7-55241677-GAA-CAT |
c.2125_2127delinsCAT |
p.E709H |
Missense |
18/28 |
- |
10 |
7-55241677-GAA-ATG |
c.2125_2127delinsATG |
p.E709M |
Missense |
18/28 |
- |
1 |
7-55241677-GGAAAC-G |
c.2125_2129del |
p.E709* |
Frameshift |
18/28 |
- |
1 |
7-55241678-A-C |
c.2126A>C |
p.E709A |
Missense |
18/28 |
- |
99 |
7-55241678-A-G |
c.2126A>G |
p.E709G |
Missense |
18/28 |
- |
45 |
7-55241678-A-T |
c.2126A>T |
p.E709V |
Missense |
18/28 |
- |
26 |
7-55241678-GAAA-G |
c.2126_2128del |
p.E709_T710delinsA |
MultiAAMissense |
18/28 |
- |
1 |
7-55241679-AAAC-A |
c.2127_2129del |
p.E709_T710delinsD |
MultiAAMissense |
18/28 |
- |
18 |
7-55241679-A-C |
c.2127A>C |
p.E709D |
Missense |
18/28 |
- |
6 |
7-55241679-A-T |
c.2127A>T |
p.E709D |
Missense |
18/28 |
- |
4 |
7-55241680-AACT-A |
c.2128_2130del |
p.T710del |
InFrameDeletion |
18/28 |
- |
4 |
7-55241680-A-G |
c.2128A>G |
p.T710A |
Missense |
18/28 |
- |
2 |
7-55241676-GGAAACT-G |
c.2128_2133del |
p.T710_E711del |
InFrameDeletion |
18/28 |
- |
1 |
7-55241681-C-T |
c.2129C>T |
p.T710I |
Missense |
18/28 |
- |
2 |
7-55241681-C-G |
c.2129C>G |
p.T710S |
Missense |
18/28 |
- |
1 |
7-55241680-A-T |
c.2128A>T |
p.T710S |
Missense |
18/28 |
- |
1 |
7-55241682-T-C |
c.2130T>C |
p.T710= |
Synonymous |
18/28 |
- |
1 |
7-55241683-G-A |
c.2131G>A |
p.E711K |
Missense |
18/28 |
- |
5 |
7-55241684-A-T |
c.2132A>T |
p.E711V |
Missense |
18/28 |
- |
4 |
7-55241684-A-C |
c.2132A>C |
p.E711A |
Missense |
18/28 |
- |
1 |
7-55241684-A-G |
c.2132A>G |
p.E711G |
Missense |
18/28 |
- |
1 |
7-55241686-T-C |
c.2134T>C |
p.F712L |
Missense |
18/28 |
- |
5 |
7-55241688-C-A |
c.2136C>A |
p.F712L |
Missense |
18/28 |
- |
4 |
7-55241688-C-G |
c.2136C>G |
p.F712L |
Missense |
18/28 |
- |
4 |
7-55241686-TTC-CAA |
c.2134_2136delinsCAA |
p.F712Q |
Missense |
18/28 |
- |
1 |
7-55241687-T-G |
c.2135T>G |
p.F712C |
Missense |
18/28 |
- |
1 |
7-55241687-T-C |
c.2135T>C |
p.F712S |
Missense |
18/28 |
- |
5 |
7-55241688-C-T |
c.2136C>T |
p.F712= |
Synonymous |
18/28 |
- |
1 |
7-55241689-A-G |
c.2137A>G |
p.K713E |
Missense |
18/28 |
- |
2 |
7-55241689-AAA-CAT |
c.2137_2139delinsCAT |
p.K713H |
Missense |
18/28 |
- |
1 |
7-55241689-A-ATGGCCAGCG |
c.2137_2138insTGGCCAGCG |
p.K713delinsMASE |
MultiAAMissense |
18/28 |
- |
1 |
7-55241689-AAA-TTT |
c.2137_2139inv |
p.K713F |
Missense |
18/28 |
- |
1 |
7-55241690-A-G |
c.2138A>G |
p.K713R |
Missense |
18/28 |
- |
1 |
7-55241691-A-C |
c.2139A>C |
p.K713N |
Missense |
18/28 |
- |
1 |
7-55241691-A-T |
c.2139A>T |
p.K713N |
Missense |
18/28 |
- |
1 |
7-55241692-A-G |
c.2140A>G |
p.K714E |
Missense |
18/28 |
- |
4 |
7-55241693-A-G |
c.2141A>G |
p.K714R |
Missense |
18/28 |
- |
2 |
7-55241692-A-AACAGCGTGG |
c.2141_2142insCAGCGTGGA |
p.K714delinsNSVE |
MultiAAMissense |
18/28 |
- |
1 |
7-55241694-G-C |
c.2142G>C |
p.K714N |
Missense |
18/28 |
- |
3 |
7-55241694-G-T |
c.2142G>T |
p.K714N |
Missense |
18/28 |
- |
5 |
7-55241695-A-G |
c.2143A>G |
p.I715V |
Missense |
18/28 |
- |
2 |
7-55241695-A-T |
c.2143A>T |
p.I715F |
Missense |
18/28 |
- |
1 |
7-55241696-T-G |
c.2144T>G |
p.I715S |
Missense |
18/28 |
- |
3 |
7-55241697-C-G |
c.2145C>G |
p.I715M |
Missense |
18/28 |
- |
1 |
7-55241698-A-G |
c.2146A>G |
p.K716E |
Missense |
18/28 |
- |
2 |
7-55241699-A-G |
c.2147A>G |
p.K716R |
Missense |
18/28 |
- |
1 |
7-55241699-A-AGGACAACCC |
c.2147_2148insGGACAACCC |
p.K716_V717insDNP |
InFrameInsertion |
18/28 |
- |
1 |
7-55241701-G-C |
c.2149G>C |
p.V717L |
Missense |
18/28 |
- |
1 |
7-55241701-G-T |
c.2149G>T |
p.V717L |
Missense |
18/28 |
- |
1 |
7-55241701-GTG-ATC |
c.2149_2151delinsATC |
p.V717I |
Missense |
18/28 |
- |
4 |
7-55241701-GTG-TTT |
c.2149_2151delinsTTT |
p.V717F |
Missense |
18/28 |
- |
3 |
7-55241700-A-AGACAACCCC |
c.2149_2150insACAACCCCG |
p.K716_V717insDNP |
InFrameInsertion |
18/28 |
- |
1 |
7-55241701-G-A |
c.2149G>A |
p.V717M |
Missense |
18/28 |
- |
1 |
7-55241702-T-C |
c.2150T>C |
p.V717A |
Missense |
18/28 |
- |
2 |
7-55241702-T-G |
c.2150T>G |
p.V717G |
Missense |
18/28 |
- |
1 |
7-55241704-CT-TA |
c.2152_2153delinsTA |
p.L718* |
Nonsense |
18/28 |
- |
7 |
7-55241704-C-G |
c.2152C>G |
p.L718V |
Missense |
18/28 |
- |
39 |
7-55241704-C-A |
c.2152C>A |
p.L718M |
Missense |
18/28 |
- |
7 |
7-55241704-CT-GC |
c.2152_2153delinsGC |
p.L718A |
Missense |
18/28 |
- |
3 |
7-55241704-CTG-TTT |
c.2152_2154delinsTTT |
p.L718F |
Missense |
18/28 |
- |
1 |
7-55241704-CTG-AAC |
c.2152_2154delinsAAC |
p.L718N |
Missense |
18/28 |
- |
1 |
7-55241705-T-A |
c.2153T>A |
p.L718Q |
Missense |
18/28 |
- |
137 |
7-55241705-T-C |
c.2153T>C |
p.L718P |
Missense |
18/28 |
- |
9 |
7-55241705-T-G |
c.2153T>G |
p.L718R |
Missense |
18/28 |
- |
1 |
7-55241706-G-C |
c.2154G>C |
p.L718= |
Synonymous |
18/28 |
- |
1 |
7-55241706-GG-TA |
c.2154_2155delinsTA |
p.G719S |
Missense |
18/28 |
- |
1 |
7-55241706-G-T |
c.2154G>T |
p.L718= |
Synonymous |
18/28 |
- |
1 |
7-55241707-G-A |
c.2155G>A |
p.G719S |
Missense |
18/28 |
- |
565 |
7-55241707-GGC-TGA |
c.2155_2157delinsTGA |
p.G719* |
Nonsense |
18/28 |
- |
916 |
7-55241707-G-T |
c.2155G>T |
p.G719C |
Missense |
18/28 |
- |
353 |
7-55241707-G-C |
c.2155G>C |
p.G719R |
Missense |
18/28 |
- |
12 |
7-55241707-GG-AA |
c.2155_2156delinsAA |
p.G719N |
Missense |
18/28 |
- |
3 |
7-55241707-GGC-CAA |
c.2155_2157delinsCAA |
p.G719Q |
Missense |
18/28 |
- |
1 |
7-55241707-GGC-ATG |
c.2155_2157delinsATG |
p.G719M |
Missense |
18/28 |
- |
1 |
7-55241705-TGG-T |
c.2155_2156del |
p.G719Lfs*9 |
Frameshift |
18/28 |
- |
1 |
7-55241708-G-C |
c.2156G>C |
p.G719A |
Missense |
18/28 |
- |
579 |
7-55241708-G-A |
c.2156G>A |
p.G719D |
Missense |
18/28 |
- |
66 |
7-55241708-G-T |
c.2156G>T |
p.G719V |
Missense |
18/28 |
- |
7 |
7-55241705-TG-T |
c.2156del |
p.G719Afs*29 |
Frameshift |
18/28 |
- |
1 |
7-55241709-C-T |
c.2157C>T |
p.G719= |
Synonymous |
18/28 |
- |
1 |
7-55241709-C-G |
c.2157C>G |
p.G719= |
Synonymous |
18/28 |
- |
1 |
7-55241709-C-A |
c.2157C>A |
p.G719= |
Synonymous |
18/28 |
- |
1 |
7-55241708-G-GCCACGT |
c.2157_2158insCACGTC |
p.G719_S720insHV |
InFrameInsertion |
18/28 |
- |
1 |
7-55241710-TCC-GCATTT |
c.2158_2160delinsGCATTT |
p.S720delinsAF |
MultiAAMissense |
18/28 |
- |
1 |
7-55241710-T-C |
c.2158T>C |
p.S720P |
Missense |
18/28 |
- |
12 |
7-55241710-T-G |
c.2158T>G |
p.S720A |
Missense |
18/28 |
- |
1 |
7-55241710-T-A |
c.2158T>A |
p.S720T |
Missense |
18/28 |
- |
2 |
7-55241710-TC-AA |
c.2158_2159delinsAA |
p.S720N |
Missense |
18/28 |
- |
1 |
7-55241711-C-G |
c.2159C>G |
p.S720C |
Missense |
18/28 |
- |
4 |
7-55241711-C-A |
c.2159C>A |
p.S720Y |
Missense |
18/28 |
- |
2 |
7-55241711-C-T |
c.2159C>T |
p.S720F |
Missense |
18/28 |
- |
22 |
7-55241713-G-A |
c.2161G>A |
p.G721S |
Missense |
18/28 |
- |
8 |
7-55241713-GGT-TGG |
c.2161_2163delinsTGG |
p.G721W |
Missense |
18/28 |
- |
1 |
7-55241711-C-CCGTGGCCAG |
c.2161_2162insTGGCCAGCG |
p.S720_G721insVAS |
InFrameInsertion |
18/28 |
- |
1 |
7-55241713-G-T |
c.2161G>T |
p.G721C |
Missense |
18/28 |
- |
1 |
7-55241713-G-C |
c.2161G>C |
p.G721R |
Missense |
18/28 |
- |
1 |
7-55241714-G-A |
c.2162G>A |
p.G721D |
Missense |
18/28 |
- |
3 |
7-55241714-G-T |
c.2162G>T |
p.G721V |
Missense |
18/28 |
- |
2 |
7-55241714-G-C |
c.2162G>C |
p.G721A |
Missense |
18/28 |
- |
8 |
7-55241716-G-A |
c.2164G>A |
p.A722T |
Missense |
18/28 |
- |
2 |
7-55241717-C-T |
c.2165C>T |
p.A722V |
Missense |
18/28 |
- |
5 |
7-55241717-C-G |
c.2165C>G |
p.A722G |
Missense |
18/28 |
- |
1 |
7-55241717-C-CCAGCGTGGA |
c.2165_2166insCAGCGTGGA |
p.A722_F723insSVE |
InFrameInsertion |
18/28 |
- |
1 |
7-55241718-G-T |
c.2166G>T |
p.A722= |
Synonymous |
18/28 |
- |
1 |
7-55241718-G-C |
c.2166G>C |
p.A722= |
Synonymous |
18/28 |
- |
1 |
7-55241718-G-A |
c.2166G>A |
p.A722= |
Synonymous |
18/28 |
- |
1 |
7-55241719-TT-GC |
c.2167_2168delinsGC |
p.F723A |
Missense |
18/28 |
- |
1 |
7-55241719-T-C |
c.2167T>C |
p.F723L |
Missense |
18/28 |
- |
4 |
7-55241721-C-A |
c.2169C>A |
p.F723L |
Missense |
18/28 |
- |
3 |
7-55241721-C-G |
c.2169C>G |
p.F723L |
Missense |
18/28 |
- |
3 |
7-55241719-T-A |
c.2167T>A |
p.F723I |
Missense |
18/28 |
- |
2 |
7-55241720-T-G |
c.2168T>G |
p.F723C |
Missense |
18/28 |
- |
1 |
7-55241721-C-T |
c.2169C>T |
p.F723= |
Synonymous |
18/28 |
- |
1 |
7-55241722-G-A |
c.2170G>A |
p.G724S |
Missense |
18/28 |
- |
106 |
7-55241723-G-C |
c.2171G>C |
p.G724A |
Missense |
18/28 |
- |
2 |
7-55241723-G-T |
c.2171G>T |
p.G724V |
Missense |
18/28 |
- |
2 |
7-55241723-G-A |
c.2171G>A |
p.G724D |
Missense |
18/28 |
- |
2 |
7-55241723-G-GGGACAACCC |
c.2171_2172insGGACAACCC |
p.G724_T725insDNP |
InFrameInsertion |
18/28 |
- |
1 |
7-55241723-G-GCGACAACCC |
c.2172_2173insGACAACCCC |
p.G724_T725insDNP |
InFrameInsertion |
18/28 |
- |
1 |
7-55241725-A-C |
c.2173A>C |
p.T725P |
Missense |
18/28 |
- |
1 |
7-55241725-AC-TA |
c.2173_2174delinsTA |
p.T725* |
Nonsense |
18/28 |
- |
1 |
7-55241725-A-G |
c.2173A>G |
p.T725A |
Missense |
18/28 |
- |
2 |
7-55241726-C-T |
c.2174C>T |
p.T725M |
Missense |
18/28 |
- |
19 |
7-55241726-CG-TC |
c.2174_2175delinsTC |
p.T725I |
Missense |
18/28 |
- |
1 |
7-55241726-C-G |
c.2174C>G |
p.T725R |
Missense |
18/28 |
- |
2 |
7-55241727-G-A |
c.2175G>A |
p.T725= |
Synonymous |
18/28 |
- |
3 |
7-55241727-G-T |
c.2175G>T |
p.T725= |
Synonymous |
18/28 |
- |
4 |
7-55241727-G-C |
c.2175G>C |
p.T725= |
Synonymous |
18/28 |
- |
5 |
7-55241728-G-A |
c.2176G>A |
p.V726M |
Missense |
18/28 |
- |
5 |
7-55241728-G-T |
c.2176G>T |
p.V726L |
Missense |
18/28 |
- |
2 |
7-55241728-GT-AC |
c.2176_2177inv |
p.V726T |
Missense |
18/28 |
- |
1 |
7-55241728-GTG-TTT |
c.2176_2178delinsTTT |
p.V726F |
Missense |
18/28 |
- |
1 |
7-55241728-GT-TA |
c.2176_2177delinsTA |
p.V726* |
Nonsense |
18/28 |
- |
1 |
7-55241729-T-C |
c.2177T>C |
p.V726A |
Missense |
18/28 |
- |
1 |
7-55241731-T-C |
c.2179T>C |
p.Y727H |
Missense |
18/28 |
- |
3 |
7-55241732-A-ACCACGT |
c.2180_2181insCCACGT |
p.Y727_K728insHV |
InFrameInsertion |
18/28 |
- |
1 |
7-55241732-A-G |
c.2180A>G |
p.Y727C |
Missense |
18/28 |
- |
3 |
7-55241734-A-G |
c.2182A>G |
p.K728E |
Missense |
18/28 |
- |
1 |
7-55241735-A-G |
c.2183A>G |
p.K728R |
Missense |
18/28 |
- |
2 |
7-55241735-A-T |
c.2183A>T |
p.K728M |
Missense |
18/28 |
- |
1 |
7-55241735-A-C |
c.2183A>C |
p.K728T |
Missense |
18/28 |
- |
1 |
7-55241738-T-C |
c.2184+2T>C |
- |
IntronicSNV |
- |
18/27 |
1 |
7-55241740-A-G |
c.2184+4A>G |
- |
IntronicSNV |
- |
18/27 |
1 |
7-55241751-A-G |
c.2184+15A>G |
- |
IntronicSNV |
- |
18/27 |
1 |
7-55241755-G-A |
c.2184+19G>A |
- |
IntronicSNV |
- |
18/27 |
10 |
7-55241763-G-A |
c.2184+27G>A |
- |
IntronicSNV |
- |
18/27 |
1 |
7-55241783-A-G |
c.2184+47A>G |
- |
IntronicSNV |
- |
18/27 |
1 |
7-55241798-GC-G |
c.2184+65del |
- |
IntronicDeletion |
- |
18/27 |
1 |
7-55241836-C-T |
c.2184+100C>T |
- |
IntronicSNV |
- |
18/27 |
2 |
7-55242415-G-A |
c.2185G>A |
p.G729R |
Missense |
19/28 |
- |
6 |
7-55242415-G-C |
c.2185G>C |
p.G729R |
Missense |
19/28 |
- |
6 |
7-55242416-G-C |
c.2186G>C |
p.G729A |
Missense |
19/28 |
- |
2 |
7-55242416-G-A |
c.2186G>A |
p.G729E |
Missense |
19/28 |
- |
3 |
7-55242418-C-T |
c.2188C>T |
p.L730F |
Missense |
19/28 |
- |
5 |
7-55242418-C-G |
c.2188C>G |
p.L730V |
Missense |
19/28 |
- |
1 |
7-55242418-C-A |
c.2188C>A |
p.L730I |
Missense |
19/28 |
- |
1 |
7-55242419-T-G |
c.2189T>G |
p.L730R |
Missense |
19/28 |
- |
2 |
7-55242419-T-C |
c.2189T>C |
p.L730P |
Missense |
19/28 |
- |
3 |
7-55242421-T-C |
c.2191T>C |
p.W731R |
Missense |
19/28 |
- |
5 |
7-55242421-T-A |
c.2191T>A |
p.W731R |
Missense |
19/28 |
- |
4 |
7-55242422-G-A |
c.2192G>A |
p.W731* |
Nonsense |
19/28 |
- |
6 |
7-55242423-G-A |
c.2193G>A |
p.W731* |
Nonsense |
19/28 |
- |
2 |
7-55242422-G-T |
c.2192G>T |
p.W731L |
Missense |
19/28 |
- |
3 |
7-55242424-A-G |
c.2194A>G |
p.I732V |
Missense |
19/28 |
- |
1 |
7-55242424-A-T |
c.2194A>T |
p.I732F |
Missense |
19/28 |
- |
1 |
7-55242425-T-C |
c.2195T>C |
p.I732T |
Missense |
19/28 |
- |
1 |
7-55242427-C-T |
c.2197C>T |
p.P733S |
Missense |
19/28 |
- |
8 |
7-55242427-C-A |
c.2197C>A |
p.P733T |
Missense |
19/28 |
- |
4 |
7-55242428-C-T |
c.2198C>T |
p.P733L |
Missense |
19/28 |
- |
12 |
7-55242428-C-A |
c.2198C>A |
p.P733Q |
Missense |
19/28 |
- |
1 |
7-55242429-A-G |
c.2199A>G |
p.P733= |
Synonymous |
19/28 |
- |
1 |
7-55242430-G-A |
c.2200G>A |
p.E734K |
Missense |
19/28 |
- |
2 |
7-55242430-G-C |
c.2200G>C |
p.E734Q |
Missense |
19/28 |
- |
2 |
7-55242430-GA-AG |
c.2200_2201delinsAG |
p.E734R |
Missense |
19/28 |
- |
1 |
7-55242431-A-C |
c.2201A>C |
p.E734A |
Missense |
19/28 |
- |
1 |
7-55242432-A-C |
c.2202A>C |
p.E734D |
Missense |
19/28 |
- |
1 |
7-55242432-A-T |
c.2202A>T |
p.E734D |
Missense |
19/28 |
- |
1 |
7-55242432-A-G |
c.2202A>G |
p.E734= |
Synonymous |
19/28 |
- |
1 |
7-55242433-G-A |
c.2203G>A |
p.G735S |
Missense |
19/28 |
- |
15 |
7-55242433-G-C |
c.2203G>C |
p.G735R |
Missense |
19/28 |
- |
1 |
7-55242434-G-A |
c.2204G>A |
p.G735D |
Missense |
19/28 |
- |
2 |
7-55242435-T-C |
c.2205T>C |
p.G735= |
Synonymous |
19/28 |
- |
1 |
7-55242436-G-A |
c.2206G>A |
p.E736K |
Missense |
19/28 |
- |
3 |
7-55242437-A-T |
c.2207A>T |
p.E736V |
Missense |
19/28 |
- |
1 |
7-55242439-AAAGTTAAAAT-CCACACTGGGA |
c.2209_2219delinsCCACACTGGGA |
p.K737_I740delinsPHWD |
MultiAAMissense |
19/28 |
- |
1 |
7-55242439-A-G |
c.2209A>G |
p.K737E |
Missense |
19/28 |
- |
1 |
7-55242440-A-G |
c.2210A>G |
p.K737R |
Missense |
19/28 |
- |
3 |
7-55242442-G-T |
c.2212G>T |
p.V738F |
Missense |
19/28 |
- |
2 |
7-55242442-G-C |
c.2212G>C |
p.V738L |
Missense |
19/28 |
- |
1 |
7-55242443-T-C |
c.2213T>C |
p.V738A |
Missense |
19/28 |
- |
1 |
7-55242443-T-G |
c.2213T>G |
p.V738G |
Missense |
19/28 |
- |
5 |
7-55242443-T-A |
c.2213T>A |
p.V738D |
Missense |
19/28 |
- |
1 |
7-55242444-T-TAAAATTCCCGTCGCTATC |
c.2217_2234dup |
p.I740_K745dup |
inframe_insertion |
19/28 |
- |
1 |
7-55242444-T-TAAGATCCCTGTAGCAATC |
c.2216_2217insGATCCCTGTAGCAATCAA |
p.I740_K745dup |
InFrameInsertion |
19/28 |
- |
1 |
7-55242448-A-T |
c.2218A>T |
p.I740F |
Missense |
19/28 |
- |
1 |
7-55242449-T-C |
c.2219T>C |
p.I740T |
Missense |
19/28 |
- |
2 |
7-55242449-T-TCATCG |
c.2219_2220insCATCG |
p.P741Ifs*9 |
Frameshift |
19/28 |
- |
1 |
7-55242451-C-T |
c.2221C>T |
p.P741S |
Missense |
19/28 |
- |
6 |
7-55242451-C-A |
c.2221C>A |
p.P741T |
Missense |
19/28 |
- |
2 |
7-55242452-C-T |
c.2222C>T |
p.P741L |
Missense |
19/28 |
- |
4 |
7-55242452-C-G |
c.2222C>G |
p.P741R |
Missense |
19/28 |
- |
1 |
7-55242452-C-A |
c.2222C>A |
p.P741H |
Missense |
19/28 |
- |
2 |
7-55242454-G-C |
c.2224G>C |
p.V742L |
Missense |
19/28 |
- |
2 |
7-55242454-G-A |
c.2224G>A |
p.V742I |
Missense |
19/28 |
- |
15 |
7-55242454-GTC-ATG |
c.2224_2226delinsATG |
p.V742M |
Missense |
19/28 |
- |
1 |
7-55242454-G-T |
c.2224G>T |
p.V742F |
Missense |
19/28 |
- |
2 |
7-55242454-GTC-TAA |
c.2224_2226delinsTAA |
p.V742* |
Nonsense |
19/28 |
- |
1 |
7-55242455-T-C |
c.2225T>C |
p.V742A |
Missense |
19/28 |
- |
11 |
7-55242453-CGTCGCTATCAAG-C |
c.2225_2236del |
p.V742_K745del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242456-C-A |
c.2226C>A |
p.V742= |
Synonymous |
19/28 |
- |
2 |
7-55242456-C-G |
c.2226C>G |
p.V742= |
Synonymous |
19/28 |
- |
2 |
7-55242456-C-T |
c.2226C>T |
p.V742= |
Synonymous |
19/28 |
- |
2 |
7-55242457-G-A |
c.2227G>A |
p.A743T |
Missense |
19/28 |
- |
8 |
7-55242457-G-T |
c.2227G>T |
p.A743S |
Missense |
19/28 |
- |
3 |
7-55242458-C-A |
c.2228C>A |
p.A743D |
Missense |
19/28 |
- |
1 |
7-55242458-C-T |
c.2228C>T |
p.A743V |
Missense |
19/28 |
- |
4 |
7-55242460-A-G |
c.2230A>G |
p.I744V |
Missense |
19/28 |
- |
5 |
7-55242460-A-T |
c.2230A>T |
p.I744F |
Missense |
19/28 |
- |
1 |
7-55242460-ATCAAGGAATTAAGAGAAGC-GTCAA |
c.2230_2249delinsGTCAA |
p.I744_A750delinsVK |
MultiAAMissense |
19/28 |
- |
1 |
7-55242461-T-C |
c.2231T>C |
p.I744T |
Missense |
19/28 |
- |
1 |
7-55242462-C-G |
c.2232C>G |
p.I744M |
Missense |
19/28 |
- |
12 |
7-55242459-TATCAAGGA-T |
c.2232_2239del |
p.E746Rfs*14 |
Frameshift |
19/28 |
- |
2 |
7-55242462-C-A |
c.2232C>A |
p.I744= |
Synonymous |
19/28 |
- |
1 |
7-55242462-C-T |
c.2232C>T |
p.I744= |
Synonymous |
19/28 |
- |
1 |
7-55242463-AA-GC |
c.2233_2234delinsGC |
p.K745A |
Missense |
19/28 |
- |
5 |
7-55242463-CAAG-C |
c.2233_2235del |
p.K745del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242464-AGGAA-TCCCTGTAGCAATCAAG |
c.2234_2238delinsTCCCTGTAGCAATCAAG |
p.K745_E746delinsIPVAIK |
MultiAAMissense |
19/28 |
- |
1 |
7-55242463-CAAGGAATTAAGAGAA-C |
c.2233_2247del |
p.K745_E749del |
InFrameDeletion |
19/28 |
- |
6 |
7-55242463-A-G |
c.2233A>G |
p.K745E |
Missense |
19/28 |
- |
1 |
7-55242462-CA-C |
c.2234del |
p.K745Rfs*3 |
Frameshift |
19/28 |
- |
2 |
7-55242462-CAAGGAATTAAGAGAAGCA-C |
c.2234_2251del |
p.K745_A750del |
InFrameDeletion |
19/28 |
- |
5 |
7-55242464-A-G |
c.2234A>G |
p.K745R |
Missense |
19/28 |
- |
11 |
7-55242464-A-T |
c.2234A>T |
p.K745M |
Missense |
19/28 |
- |
4 |
7-55242464-AGGAATTAAGAGAAGCAAC-T |
c.2234_2252delinsT |
p.K745_T751delinsI |
MultiAAMissense |
19/28 |
- |
1 |
7-55242464-AAGGAATTAAGAGAAG-A |
c.2234_2248del |
p.K745_A750delinsT |
MultiAAMissense |
19/28 |
- |
3 |
7-55242465-AGGAATTAAGAGAAGC-A |
c.2235_2249del |
p.E746_A750del |
InFrameDeletion |
19/28 |
- |
133 |
7-55242462-C-CAAGATCCCT |
c.2235_2236insATCCCTAAG |
p.K745_E746insIPK |
InFrameInsertion |
19/28 |
- |
1 |
7-55242463-AAGG-A |
c.2235_2237del |
p.E746del |
InFrameDeletion |
19/28 |
- |
2 |
7-55242465-GGAATTAAGAGAAGCAA-AATTC |
c.2235_2251delinsAATTC |
p.E746_T751delinsIP |
MultiAAMissense |
19/28 |
- |
2 |
7-55242459-T-TATCAAGATCCCTGTAGCA |
c.2235_2236insATCCCTGTAGCAATCAAG |
p.I740_K745dup |
InFrameInsertion |
19/28 |
- |
8 |
7-55242465-AGG-A |
c.2235_2236del |
p.E746Ifs*16 |
Frameshift |
19/28 |
- |
2 |
7-55242465-G-GT |
c.2235_2236insT |
p.E746* |
Nonsense |
19/28 |
- |
1 |
7-55242465-GGAATTAAGAGAAGCAACATC-AAT |
c.2235_2255delinsAAT |
p.E746_S752delinsI |
MultiAAMissense |
19/28 |
- |
1 |
7-55242463-AAGGAATTAAGAG-A |
c.2235_2246del |
p.E746_E749del |
InFrameDeletion |
19/28 |
- |
6 |
7-55242465-GGAATTAAGAGAAG-TT |
c.2235_2248delinsTT |
p.K745_A750delinsNS |
MultiAAMissense |
19/28 |
- |
1 |
7-55242465-AGGAATTAAGAGAAGCAAC-A |
c.2235_2252del |
p.E746_T751del |
InFrameDeletion |
19/28 |
- |
6 |
7-55242465-G-A |
c.2235G>A |
p.K745= |
Synonymous |
19/28 |
- |
1 |
7-55242461-TCAAGGAATTAAGAGAAG-T |
c.2235_2251del |
p.K745Nfs*12 |
Frameshift |
19/28 |
- |
2 |
7-55242465-GGAATTAAGAGAAGCAAC-TT |
c.2235_2252delinsTT |
p.K745Nfs*16 |
Frameshift |
19/28 |
- |
1 |
7-55242459-T-TATCAAGACACCTGTAGCA |
c.2235_2236insACACCTGTAGCAATCAAG |
p.K745_E746insTPVAIK |
InFrameInsertion |
19/28 |
- |
1 |
7-55242465-GGAATTAAGAGAAGCAA-AG |
c.2235_2251delinsAG |
p.E746_T751delinsA |
MultiAAMissense |
19/28 |
- |
1 |
7-55242465-GGAATTAAGAGAAGCAAC-AAT |
c.2235_2252delinsAAT |
p.E746_T751delinsI |
MultiAAMissense |
19/28 |
- |
1 |
7-55242466-G-A |
c.2236G>A |
p.E746K |
Missense |
19/28 |
- |
13 |
7-55242466-GGAATTAAGAGAAGCA-G |
c.2236_2250del |
p.E746_A750del |
InFrameDeletion |
19/28 |
- |
199 |
7-55242466-GGAATTAAGAGAAGCAACATCT-G |
c.2236_2256del |
p.E746_S752del |
InFrameDeletion |
19/28 |
- |
10 |
7-55242466-G-T |
c.2236G>T |
p.E746* |
Nonsense |
19/28 |
- |
1 |
7-55242466-GGAA-G |
c.2236_2238del |
p.E746del |
InFrameDeletion |
19/28 |
- |
6 |
7-55242464-AG-A |
c.2236del |
p.E746Nfs*2 |
Frameshift |
19/28 |
- |
3 |
7-55242462-CAAGGAATTAAGAG-C |
c.2236_2248del |
p.E746Qfs*16 |
Frameshift |
19/28 |
- |
3 |
7-55242466-GGAATTAAGAGAAGCAACA-G |
c.2236_2253del |
p.E746_T751del |
InFrameDeletion |
19/28 |
- |
9 |
7-55242466-G-C |
c.2236G>C |
p.E746Q |
Missense |
19/28 |
- |
2 |
7-55242466-GAATTAAGAGAAG-AGCC |
c.2236_2248delinsAGCC |
p.E746_A750delinsSP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242466-GAATTAAGAGAAGCAACATCTC-CTCT |
c.2236_2257delinsCTCT |
p.E746_P753delinsLS |
MultiAAMissense |
19/28 |
- |
2 |
7-55242466-GAATTAAGAGAAG-ATTC |
c.2236_2248delinsATTC |
p.E746_A750delinsIP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242466-GAATTAAGAGAAGCAACATCTC-ATCT |
c.2236_2257delinsATCT |
p.E746_P753delinsIS |
MultiAAMissense |
19/28 |
- |
1 |
7-55242466-GGAATTAAGAGAAGCAAC-G |
c.2236_2252del |
p.E746Ifs*11 |
Frameshift |
19/28 |
- |
2 |
7-55242466-GAATTAAGAGAAGCAAC-CT |
c.2236_2252delinsCT |
p.E746_T751delinsL |
MultiAAMissense |
19/28 |
- |
2 |
7-55242466-GGAATTAAGAGAAGC-G |
c.2236_2249del |
p.E746Nfs*12 |
Frameshift |
19/28 |
- |
4 |
7-55242466-GGA-G |
c.2236_2237del |
p.E746Ifs*16 |
Frameshift |
19/28 |
- |
2 |
7-55242466-GAATTAAGAGAAG-CAAC |
c.2236_2248delinsCAAC |
p.E746_A750delinsQP |
MultiAAMissense |
19/28 |
- |
3 |
7-55242466-GAATT-ATTCC |
c.2236_2240delinsATTCC |
p.E746_L747delinsIP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242466-GAATTAAGAGAAGCAACATCTCCGA-ATCTCCG |
c.2236_2260delinsATCTCCG |
p.E746_K754delinsISE |
MultiAAMissense |
19/28 |
- |
1 |
7-55242466-GAATTAAGAGAAGCAACA-TTG |
c.2236_2253delinsTTG |
p.E746_T751delinsL |
MultiAAMissense |
19/28 |
- |
1 |
7-55242466-GAATTAAGAGAAG-C |
c.2236_2248delinsC |
p.E746_A750delinsP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242466-GGAATTAAGAGAAGCAACAT-G |
c.2236_2254del |
p.E746Lfs*14 |
Frameshift |
19/28 |
- |
1 |
7-55242466-GAATTAAGAGAAGCAAC-AT |
c.2236_2252delinsAT |
p.E746_T751delinsI |
MultiAAMissense |
19/28 |
- |
1 |
7-55242464-AGGAATTAAGAGAAGCAACATCTCC-A |
c.2236_2259del |
p.E746_P753del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242466-GGAATTAAGAGAAGCAACATC-G |
c.2236_2255del |
p.E746Sfs*10 |
Frameshift |
19/28 |
- |
1 |
7-55242466-GAATTAAGAGAAGCAAC-CA |
c.2236_2252delinsCA |
p.E746_T751delinsQ |
MultiAAMissense |
19/28 |
- |
1 |
7-55242466-GAATTAAGAGAAGCAACATC-AT |
c.2236_2255delinsAT |
p.E746_S752delinsI |
MultiAAMissense |
19/28 |
- |
1 |
7-55242466-GAATTAAGAGAAGCAACATCT-ATC |
c.2236_2256delinsATC |
p.E746_S752delinsI |
MultiAAMissense |
19/28 |
- |
1 |
7-55242467-A-C |
c.2237A>C |
p.E746A |
Missense |
19/28 |
- |
4 |
7-55242467-GAATTAAGAGAAGCAACATC-G |
c.2237_2255del |
p.E746Vfs*14 |
Frameshift |
19/28 |
- |
3 |
7-55242467-GAATTAAGAGAAGCAACAT-G |
c.2237_2254del |
p.E746_S752delinsA |
MultiAAMissense |
19/28 |
- |
17 |
7-55242467-AATTAAGAGAAGCAACATC-T |
c.2237_2255delinsT |
p.E746_S752delinsV |
MultiAAMissense |
19/28 |
- |
10 |
7-55242467-AATTAAGAGAAGCAA-T |
c.2237_2251delinsT |
p.E746Vfs*12 |
Frameshift |
19/28 |
- |
1 |
7-55242467-GAATTAAGAGAAGCAA-G |
c.2237_2251del |
p.E746_T751delinsA |
MultiAAMissense |
19/28 |
- |
27 |
7-55242467-AATTAAGAGAAGCAAC-T |
c.2237_2252delinsT |
p.E746_T751delinsV |
MultiAAMissense |
19/28 |
- |
2 |
7-55242467-AATTAAGAGAAGCAACATCTC-TCT |
c.2237_2257delinsTCT |
p.E746_P753delinsVS |
MultiAAMissense |
19/28 |
- |
2 |
7-55242467-AATTAAGAGAAGCAACATCT-TC |
c.2237_2256delinsTC |
p.E746_S752delinsV |
MultiAAMissense |
19/28 |
- |
2 |
7-55242467-A-T |
c.2237A>T |
p.E746V |
Missense |
19/28 |
- |
17 |
7-55242465-GGAATTAAGAGAA-G |
c.2237_2248del |
p.E746_E749del |
InFrameDeletion |
19/28 |
- |
3 |
7-55242467-GAATTAAGAGAAGCAACA-G |
c.2237_2253del |
p.E746Vfs*11 |
Frameshift |
19/28 |
- |
4 |
7-55242467-A-G |
c.2237A>G |
p.E746G |
Missense |
19/28 |
- |
7 |
7-55242467-GAA-G |
c.2237_2238del |
p.E746Vfs*16 |
Frameshift |
19/28 |
- |
4 |
7-55242467-AATTAAGAGAAGCAACA-TTGCT |
c.2237_2253delinsTTGCT |
p.E746_T751delinsVA |
MultiAAMissense |
19/28 |
- |
1 |
7-55242467-GAATTAAGAGAAGCAACATCTC-G |
c.2237_2257del |
p.E746_P753delinsA |
MultiAAMissense |
19/28 |
- |
2 |
7-55242466-G-GAACA |
c.2238_2239insCAAA |
p.L747Qfs*17 |
Frameshift |
19/28 |
- |
1 |
7-55242468-A-C |
c.2238A>C |
p.E746D |
Missense |
19/28 |
- |
1 |
7-55242468-A-T |
c.2238A>T |
p.E746D |
Missense |
19/28 |
- |
1 |
7-55242466-GAATTAAGAGA-G |
c.2238_2247del |
p.L747Qfs*16 |
Frameshift |
19/28 |
- |
3 |
7-55242468-ATTAAGAGAAGCAACATCTCC-GCAACA |
c.2238_2258delinsGCAACA |
p.L747_P753delinsQQ |
MultiAAMissense |
19/28 |
- |
1 |
7-55242468-A-AAG |
c.2238_2239insAG |
p.L747Sfs*2 |
Frameshift |
19/28 |
- |
1 |
7-55242468-AATTAAGAGAAGCAACATC-A |
c.2238_2255del |
p.E746_S752delinsD |
MultiAAMissense |
19/28 |
- |
7 |
7-55242468-ATTAAGAGAAGCAAC-GCA |
c.2238_2252delinsGCA |
p.L747_T751delinsQ |
MultiAAMissense |
19/28 |
- |
1 |
7-55242465-GGAATTAA-G |
c.2238_2244del |
p.L747Kfs*17 |
Frameshift |
19/28 |
- |
1 |
7-55242468-AATTAAGAGAAGCAACATCTCC-A |
c.2238_2258del |
p.L747_P753del |
InFrameDeletion |
19/28 |
- |
2 |
7-55242468-AATTAAGAGAAGCAACATCT-A |
c.2238_2256del |
p.E746Dfs*14 |
Frameshift |
19/28 |
- |
1 |
7-55242468-ATTAAGAGAAG-GC |
c.2238_2248delinsGC |
p.L747_A750delinsP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242468-A-AATC |
c.2238_2239insATC |
p.E746_L747insI |
InFrameInsertion |
19/28 |
- |
1 |
7-55242469-TT-CC |
c.2239_2240delinsCC |
p.L747P |
Missense |
19/28 |
- |
77 |
7-55242465-GGAATTAAGA-G |
c.2239_2247del |
p.L747_E749del |
InFrameDeletion |
19/28 |
- |
41 |
7-55242469-TT-AG |
c.2239_2240delinsAG |
p.L747R |
Missense |
19/28 |
- |
1 |
7-55242466-GAATTAAGAGAAGCAACATCTCCGA-G |
c.2239_2262del |
p.L747_K754del |
InFrameDeletion |
19/28 |
- |
3 |
7-55242469-TTAAGAGAAG-C |
c.2239_2248delinsC |
p.L747_A750delinsP |
MultiAAMissense |
19/28 |
- |
13 |
7-55242469-T-C |
c.2239T>C |
p.L747= |
Synonymous |
19/28 |
- |
3 |
7-55242471-A-G |
c.2241A>G |
p.L747= |
Synonymous |
19/28 |
- |
2 |
7-55242467-AATTAAGAGAAGC-A |
c.2239_2250del |
p.L747_A750del |
InFrameDeletion |
19/28 |
- |
7 |
7-55242469-ATTAAGAGAAGCAACATCT-A |
c.2239_2256del |
p.L747_S752del |
InFrameDeletion |
19/28 |
- |
45 |
7-55242469-ATTAAGAGAAGCAACATCTCCG-A |
c.2239_2259del |
p.L747_P753del |
InFrameDeletion |
19/28 |
- |
5 |
7-55242469-ATTAAGAGAAG-A |
c.2239_2248del |
p.L747Qfs*16 |
Frameshift |
19/28 |
- |
8 |
7-55242469-TTA-ATCCCT |
c.2239_2241delinsATCCCT |
p.L747delinsIP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242469-TTAAGAGAAGCAACATCTCCGAAAGC-GGAG |
c.2239_2264delinsGGAG |
p.L747Gfs*12 |
Frameshift |
19/28 |
- |
1 |
7-55242469-TTAAGAGAAGCAA-C |
c.2239_2251delinsC |
p.L747_T751delinsP |
MultiAAMissense |
19/28 |
- |
6 |
7-55242469-TTAAGAGAAGCAACA-CCAACG |
c.2239_2253delinsCCAACG |
p.L747_A750delinsP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242469-TTA-GTACCT |
c.2239_2241delinsGTACCT |
p.L747delinsVP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242469-TTAAGAGAAGCAACATCTCCGA-GC |
c.2239_2260delinsGC |
p.L747Afs*9 |
Frameshift |
19/28 |
- |
1 |
7-55242469-TTAAG-CC |
c.2239_2243delinsCC |
p.L747_R748delinsP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242469-T-G |
c.2239T>G |
p.L747V |
Missense |
19/28 |
- |
8 |
7-55242469-TT-GC |
c.2239_2240delinsGC |
p.L747A |
Missense |
19/28 |
- |
1 |
7-55242469-ATTAAGAGAAGCAACATCTCCGAAAGC-A |
c.2239_2264del |
p.L747Qfs*7 |
Frameshift |
19/28 |
- |
2 |
7-55242469-TTAAGAGAAGCAACATCTCC-CA |
c.2239_2258delinsCA |
p.L747_P753delinsQ |
MultiAAMissense |
19/28 |
- |
2 |
7-55242467-AATT-A |
c.2239_2241del |
p.L747del |
InFrameDeletion |
19/28 |
- |
2 |
7-55242466-GAATTAAGAGAAGC-G |
c.2239_2251del |
p.L747Hfs*15 |
Frameshift |
19/28 |
- |
1 |
7-55242469-TTAAGAGAAGCAAC-CA |
c.2239_2252delinsCA |
p.L747_T751delinsQ |
MultiAAMissense |
19/28 |
- |
1 |
7-55242470-TTAAGAGAAGCAACATCTC-T |
c.2240_2257del |
p.L747_P753delinsS |
MultiAAMissense |
19/28 |
- |
80 |
7-55242467-AATTAAGAGAAGCAAC-A |
c.2240_2254del |
p.L747_T751del |
InFrameDeletion |
19/28 |
- |
78 |
7-55242470-T-C |
c.2240T>C |
p.L747S |
Missense |
19/28 |
- |
189 |
7-55242470-TTAAGAGAAGCAA-T |
c.2240_2251del |
p.L747_T751delinsS |
MultiAAMissense |
19/28 |
- |
10 |
7-55242470-TA-GT |
c.2240_2241delinsGT |
p.L747C |
Missense |
19/28 |
- |
1 |
7-55242470-T-A |
c.2240T>A |
p.L747* |
Nonsense |
19/28 |
- |
4 |
7-55242470-T-G |
c.2240T>G |
p.L747* |
Nonsense |
19/28 |
- |
4 |
7-55242470-TTAAGAGAAG-T |
c.2240_2248del |
p.L747_A750delinsS |
MultiAAMissense |
19/28 |
- |
4 |
7-55242470-TAAGAGAAGCAACATCTCCGAAAGC-CGAAAGG |
c.2240_2264delinsCGAAAGG |
p.L747_A755delinsSKG |
MultiAAMissense |
19/28 |
- |
1 |
7-55242470-TTAAGAGAAGCAAC-T |
c.2240_2252del |
p.L747Yfs*15 |
Frameshift |
19/28 |
- |
1 |
7-55242471-TAAGAGAAG-T |
c.2241_2248del |
p.L747Ffs*13 |
Frameshift |
19/28 |
- |
1 |
7-55242469-TTAAGAGAAGCAACATC-T |
c.2241_2256del |
p.L747Ffs*14 |
Frameshift |
19/28 |
- |
1 |
7-55242471-A-T |
c.2241A>T |
p.L747F |
Missense |
19/28 |
- |
4 |
7-55242471-A-C |
c.2241A>C |
p.L747F |
Missense |
19/28 |
- |
4 |
7-55242471-TAAGAGAAGCAACA-T |
c.2241_2253del |
p.L747Ffs*15 |
Frameshift |
19/28 |
- |
1 |
7-55242471-AAGA-CCCG |
c.2241_2244delinsCCCG |
p.L747_R748delinsFP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242470-TAAGAGAAGCAAC-T |
c.2242_2253del |
p.R748_T751del |
InFrameDeletion |
19/28 |
- |
3 |
7-55242470-TAAG-T |
c.2242_2244del |
p.R748del |
InFrameDeletion |
19/28 |
- |
7 |
7-55242472-AG-GA |
c.2242_2243delinsGA |
p.R748E |
Missense |
19/28 |
- |
1 |
7-55242472-A-G |
c.2242A>G |
p.R748G |
Missense |
19/28 |
- |
2 |
7-55242470-TAAGAGAAGCA-T |
c.2242_2251del |
p.R748Hfs*15 |
Frameshift |
19/28 |
- |
1 |
7-55242472-AGA-TGG |
c.2242_2244delinsTGG |
p.R748W |
Missense |
19/28 |
- |
2 |
7-55242473-G-A |
c.2243G>A |
p.R748K |
Missense |
19/28 |
- |
5 |
7-55242473-G-T |
c.2243G>T |
p.R748I |
Missense |
19/28 |
- |
1 |
7-55242470-TAAGAGAAGC-T |
c.2243_2251del |
p.R748_A750del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242473-G-C |
c.2243G>C |
p.R748T |
Missense |
19/28 |
- |
1 |
7-55242474-A-G |
c.2244A>G |
p.R748= |
Synonymous |
19/28 |
- |
1 |
7-55242472-A-C |
c.2242A>C |
p.R748= |
Synonymous |
19/28 |
- |
1 |
7-55242475-G-T |
c.2245G>T |
p.E749* |
Nonsense |
19/28 |
- |
2 |
7-55242473-GAGAAGCA-G |
c.2245_2251del |
p.E749Hfs*15 |
Frameshift |
19/28 |
- |
2 |
7-55242475-GA-AT |
c.2245_2246delinsAT |
p.E749I |
Missense |
19/28 |
- |
1 |
7-55242475-G-A |
c.2245G>A |
p.E749K |
Missense |
19/28 |
- |
5 |
7-55242475-GAA-ATGAAGAAG |
c.2245_2247delinsATGAAGAAG |
p.E749delinsMKK |
MultiAAMissense |
19/28 |
- |
1 |
7-55242475-G-C |
c.2245G>C |
p.E749Q |
Missense |
19/28 |
- |
5 |
7-55242473-GAGA-G |
c.2246_2248del |
p.E749del |
InFrameDeletion |
19/28 |
- |
69 |
7-55242476-A-G |
c.2246A>G |
p.E749G |
Missense |
19/28 |
- |
3 |
7-55242476-A-T |
c.2246A>T |
p.E749V |
Missense |
19/28 |
- |
1 |
7-55242477-AAGCAACATC-A |
c.2247_2255del |
p.E749_S752delinsD |
MultiAAMissense |
19/28 |
- |
1 |
7-55242477-A-G |
c.2247A>G |
p.E749= |
Synonymous |
19/28 |
- |
1 |
7-55242478-G-C |
c.2248G>C |
p.A750P |
Missense |
19/28 |
- |
115 |
7-55242476-AAGC-A |
c.2248_2250del |
p.A750del |
InFrameDeletion |
19/28 |
- |
381 |
7-55242474-AGAAGCAACATCTCCGAAAGCCAACAAG-A |
c.2248_2274del |
p.A750_E758del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242478-GCA-ATCCCT |
c.2248_2250delinsATCCCT |
p.A750delinsIP |
MultiAAMissense |
19/28 |
- |
3 |
7-55242479-CA-AGCCT |
c.2249_2250delinsAGCCT |
p.A750delinsEP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242478-GC-AA |
c.2248_2249delinsAA |
p.A750K |
Missense |
19/28 |
- |
1 |
7-55242478-GCA-AACAGGCAAGGT |
c.2248_2250delinsAACAGGCAAGGT |
p.A750delinsNRQG |
MultiAAMissense |
19/28 |
- |
1 |
7-55242478-GCA-CAACCT |
c.2248_2250delinsCAACCT |
p.A750delinsQP |
MultiAAMissense |
19/28 |
- |
2 |
7-55242478-AGCAACATCTCCGAAAGCCAACAAGGAAAT-A |
c.2248_2276del |
p.A750Pfs*3 |
Frameshift |
19/28 |
- |
1 |
7-55242478-AGCAACATCTCCGAAAGCCAACAAGGAAATC-A |
c.2248_2277del |
p.A750_I759del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242478-G-A |
c.2248G>A |
p.A750T |
Missense |
19/28 |
- |
1 |
7-55242479-CA-TACCT |
c.2249_2250delinsTACCT |
p.A750delinsVP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242479-C-A |
c.2249C>A |
p.A750E |
Missense |
19/28 |
- |
5 |
7-55242478-G-GC |
c.2249dup |
p.T751Nfs*12 |
Frameshift |
19/28 |
- |
1 |
7-55242479-C-T |
c.2249C>T |
p.A750V |
Missense |
19/28 |
- |
1 |
7-55242480-CAA-C |
c.2250_2251del |
p.T751Ifs*11 |
Frameshift |
19/28 |
- |
1 |
7-55242480-A-G |
c.2250A>G |
p.A750= |
Synonymous |
19/28 |
- |
1 |
7-55242478-GCAA-G |
c.2251_2253del |
p.T751del |
InFrameDeletion |
19/28 |
- |
85 |
7-55242481-AACATCTCCGAAAGCCAACAAGGAAATC-A |
c.2251_2277del |
p.T751_I759del |
InFrameDeletion |
19/28 |
- |
6 |
7-55242481-AC-GG |
c.2251_2252delinsGG |
p.T751G |
Missense |
19/28 |
- |
1 |
7-55242481-ACA-GTACCT |
c.2251_2253delinsGTACCT |
p.T751delinsVP |
MultiAAMissense |
19/28 |
- |
1 |
7-55242481-A-GCAG |
c.2251delinsGCAG |
p.T751delinsAA |
MultiAAMissense |
19/28 |
- |
1 |
7-55242481-ACATCTCCGAAAGCCAACAAGGAAATC-TCT |
c.2251_2277delinsTCT |
p.T751_I759delinsS |
MultiAAMissense |
19/28 |
- |
1 |
7-55242481-A-T |
c.2251A>T |
p.T751S |
Missense |
19/28 |
- |
3 |
7-55242481-A-C |
c.2251A>C |
p.T751P |
Missense |
19/28 |
- |
11 |
7-55242481-A-GTAG |
c.2251delinsGTAG |
p.T751delinsVA |
MultiAAMissense |
19/28 |
- |
2 |
7-55242481-ACA-GCAATC |
c.2251_2253delinsGCAATC |
p.T751delinsAI |
MultiAAMissense |
19/28 |
- |
1 |
7-55242481-A-G |
c.2251A>G |
p.T751A |
Missense |
19/28 |
- |
11 |
7-55242482-CA-TCCCT |
c.2252_2253delinsTCCCT |
p.T751delinsIP |
MultiAAMissense |
19/28 |
- |
2 |
7-55242479-CAACATCTCCGAA-C |
c.2251_2262del |
p.T751_K754del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242482-C-T |
c.2252C>T |
p.T751I |
Missense |
19/28 |
- |
23 |
7-55242479-CAACATCTCCGAAAGCCAACAAGGA-C |
c.2252_2275del |
p.T751_E758del |
InFrameDeletion |
19/28 |
- |
5 |
7-55242482-CA-AC |
c.2252_2253delinsAC |
p.T751N |
Missense |
19/28 |
- |
1 |
7-55242482-C-G |
c.2252C>G |
p.T751R |
Missense |
19/28 |
- |
1 |
7-55242479-CAACATCTCCGAAAGCCAACAAGG-C |
c.2252_2274del |
p.T751Nfs*4 |
Frameshift |
19/28 |
- |
1 |
7-55242482-AC-A |
c.2252del |
p.T751Nfs*15 |
Frameshift |
19/28 |
- |
1 |
7-55242482-CATCTCCGAAAGCCAACAAGGAAAT-A |
c.2252_2276delinsA |
p.T751_I759delinsN |
MultiAAMissense |
19/28 |
- |
3 |
7-55242483-CATCTCCGAAAGCCAACAAGGAAAT-C |
c.2253_2276del |
p.S752_I759del |
InFrameDeletion |
19/28 |
- |
13 |
7-55242481-ACATCTCCGAAAGCCAACAAGGAAAT-A |
c.2253_2277del |
p.P753Mfs*5 |
Frameshift |
19/28 |
- |
2 |
7-55242483-A-G |
c.2253A>G |
p.T751= |
Synonymous |
19/28 |
- |
1 |
7-55242483-A-T |
c.2253A>T |
p.T751= |
Synonymous |
19/28 |
- |
1 |
7-55242483-A-C |
c.2253A>C |
p.T751= |
Synonymous |
19/28 |
- |
1 |
7-55242483-CATCTCCGAAAGCCAACAAGGAAA-C |
c.2253_2275del |
p.S752Pfs*3 |
Frameshift |
19/28 |
- |
1 |
7-55242481-ACATCT-A |
c.2253_2257del |
p.S752Efs*9 |
Frameshift |
19/28 |
- |
1 |
7-55242484-TC-AT |
c.2254_2255delinsAT |
p.S752I |
Missense |
19/28 |
- |
16 |
7-55242484-ATCT-A |
c.2254_2256del |
p.S752del |
InFrameDeletion |
19/28 |
- |
68 |
7-55242484-ATCTCCGAAAGCCAACAAGGAAATC-A |
c.2254_2277del |
p.S752_I759del |
InFrameDeletion |
19/28 |
- |
16 |
7-55242482-CATCTCCGA-C |
c.2254_2261del |
p.P753Qfs*7 |
Frameshift |
19/28 |
- |
2 |
7-55242484-ATCTCCG-A |
c.2254_2259del |
p.S752_P753del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242484-TC-GT |
c.2254_2255delinsGT |
p.S752V |
Missense |
19/28 |
- |
4 |
7-55242484-TC-GA |
c.2254_2255inv |
p.S752D |
Missense |
19/28 |
- |
6 |
7-55242481-ACATCTCCGAAAGC-A |
c.2254_2266del |
p.S752Tfs*10 |
Frameshift |
19/28 |
- |
1 |
7-55242484-T-C |
c.2254T>C |
p.S752P |
Missense |
19/28 |
- |
3 |
7-55242484-TCT-ATCGTA |
c.2254_2256delinsATCGTA |
p.S752delinsIV |
MultiAAMissense |
19/28 |
- |
1 |
7-55242485-C-T |
c.2255C>T |
p.S752F |
Missense |
19/28 |
- |
10 |
7-55242485-C-A |
c.2255C>A |
p.S752Y |
Missense |
19/28 |
- |
4 |
7-55242485-TC-T |
c.2255del |
p.S752Ffs*14 |
Frameshift |
19/28 |
- |
1 |
7-55242485-C-G |
c.2255C>G |
p.S752C |
Missense |
19/28 |
- |
1 |
7-55242486-CT-C |
c.2256del |
p.P753Rfs*13 |
Frameshift |
19/28 |
- |
1 |
7-55242483-ATC-A |
c.2256_2257del |
p.P753Efs*9 |
Frameshift |
19/28 |
- |
1 |
7-55242487-TCCG-T |
c.2257_2259del |
p.P753del |
InFrameDeletion |
19/28 |
- |
17 |
7-55242487-C-T |
c.2257C>T |
p.P753S |
Missense |
19/28 |
- |
58 |
7-55242487-CCG-ATCAGC |
c.2257_2259delinsATCAGC |
p.P753delinsIS |
MultiAAMissense |
19/28 |
- |
2 |
7-55242487-CCG-GTAAGC |
c.2257_2259delinsGTAAGC |
p.P753delinsVS |
MultiAAMissense |
19/28 |
- |
2 |
7-55242487-CCG-AGCAACATCAGCGGT |
c.2257_2259delinsAGCAACATCAGCGGT |
p.P753delinsSNISG |
MultiAAMissense |
19/28 |
- |
1 |
7-55242487-CC-GCAAACAAGGA |
c.2257_2258delinsGCAAACAAGGA |
p.P753delinsANKE |
MultiAAMissense |
19/28 |
- |
1 |
7-55242487-C-A |
c.2257C>A |
p.P753T |
Missense |
19/28 |
- |
1 |
7-55242487-CCG-TTT |
c.2257_2259delinsTTT |
p.P753F |
Missense |
19/28 |
- |
1 |
7-55242487-CC-GA |
c.2257_2258delinsGA |
p.P753E |
Missense |
19/28 |
- |
1 |
7-55242486-TC-T |
c.2258del |
p.P753Rfs*13 |
Frameshift |
19/28 |
- |
4 |
7-55242488-C-T |
c.2258C>T |
p.P753L |
Missense |
19/28 |
- |
10 |
7-55242488-C-A |
c.2258C>A |
p.P753Q |
Missense |
19/28 |
- |
5 |
7-55242488-C-G |
c.2258C>G |
p.P753R |
Missense |
19/28 |
- |
1 |
7-55242489-G-A |
c.2259G>A |
p.P753= |
Synonymous |
19/28 |
- |
2 |
7-55242489-G-T |
c.2259G>T |
p.P753= |
Synonymous |
19/28 |
- |
1 |
7-55242489-G-C |
c.2259G>C |
p.P753= |
Synonymous |
19/28 |
- |
1 |
7-55242490-GAAA-G |
c.2260_2262del |
p.K754del |
InFrameDeletion |
19/28 |
- |
6 |
7-55242490-A-G |
c.2260A>G |
p.K754E |
Missense |
19/28 |
- |
20 |
7-55242490-GAAAGCCAACAAGGAAATC-G |
c.2260_2277del |
p.K754_I759del |
InFrameDeletion |
19/28 |
- |
2 |
7-55242490-AAA-GTAAGCAGG |
c.2260_2262delinsGTAAGCAGG |
p.K754delinsVSR |
MultiAAMissense |
19/28 |
- |
1 |
7-55242490-A-C |
c.2260A>C |
p.K754Q |
Missense |
19/28 |
- |
4 |
7-55242490-AAA-GCAACAAGCCCTGAG |
c.2260_2262delinsGCAACAAGCCCTGAG |
p.K754delinsATSPE |
MultiAAMissense |
19/28 |
- |
2 |
7-55242490-AAA-CAACCTAAC |
c.2260_2262delinsCAACCTAAC |
p.K754delinsQPN |
MultiAAMissense |
19/28 |
- |
1 |
7-55242490-A-T |
c.2260A>T |
p.K754* |
Nonsense |
19/28 |
- |
2 |
7-55242491-AA-GCAGG |
c.2261_2262delinsGCAGG |
p.K754delinsSR |
MultiAAMissense |
19/28 |
- |
1 |
7-55242491-A-G |
c.2261A>G |
p.K754R |
Missense |
19/28 |
- |
2 |
7-55242491-A-T |
c.2261A>T |
p.K754I |
Missense |
19/28 |
- |
3 |
7-55242491-A-C |
c.2261A>C |
p.K754T |
Missense |
19/28 |
- |
1 |
7-55242492-A-G |
c.2262A>G |
p.K754= |
Synonymous |
19/28 |
- |
3 |
7-55242492-A-C |
c.2262A>C |
p.K754N |
Missense |
19/28 |
- |
2 |
7-55242492-A-T |
c.2262A>T |
p.K754N |
Missense |
19/28 |
- |
2 |
7-55242493-GCC-AGCAAGGGT |
c.2263_2265delinsAGCAAGGGT |
p.A755delinsSKG |
MultiAAMissense |
19/28 |
- |
1 |
7-55242493-GC-AGCAAGGA |
c.2263_2264delinsAGCAAGGA |
p.A755delinsSKD |
MultiAAMissense |
19/28 |
- |
1 |
7-55242493-G-A |
c.2263G>A |
p.A755T |
Missense |
19/28 |
- |
2 |
7-55242494-C-G |
c.2264C>G |
p.A755G |
Missense |
19/28 |
- |
5 |
7-55242494-C-A |
c.2264C>A |
p.A755D |
Missense |
19/28 |
- |
8 |
7-55242494-C-T |
c.2264C>T |
p.A755V |
Missense |
19/28 |
- |
4 |
7-55242495-C-A |
c.2265C>A |
p.A755= |
Synonymous |
19/28 |
- |
1 |
7-55242495-C-G |
c.2265C>G |
p.A755= |
Synonymous |
19/28 |
- |
2 |
7-55242495-C-T |
c.2265C>T |
p.A755= |
Synonymous |
19/28 |
- |
1 |
7-55242496-A-C |
c.2266A>C |
p.N756H |
Missense |
19/28 |
- |
1 |
7-55242496-A-G |
c.2266A>G |
p.N756D |
Missense |
19/28 |
- |
2 |
7-55242496-A-T |
c.2266A>T |
p.N756Y |
Missense |
19/28 |
- |
1 |
7-55242497-A-G |
c.2267A>G |
p.N756S |
Missense |
19/28 |
- |
3 |
7-55242499-A-G |
c.2269A>G |
p.K757E |
Missense |
19/28 |
- |
4 |
7-55242499-AA-CT |
c.2269_2270delinsCT |
p.K757L |
Missense |
19/28 |
- |
1 |
7-55242499-CAAG-C |
c.2269_2271del |
p.K757del |
InFrameDeletion |
19/28 |
- |
3 |
7-55242500-A-G |
c.2270A>G |
p.K757R |
Missense |
19/28 |
- |
16 |
7-55242500-A-T |
c.2270A>T |
p.K757M |
Missense |
19/28 |
- |
5 |
7-55242500-A-C |
c.2270A>C |
p.K757T |
Missense |
19/28 |
- |
1 |
7-55242501-G-A |
c.2271G>A |
p.K757= |
Synonymous |
19/28 |
- |
2 |
7-55242501-G-C |
c.2271G>C |
p.K757N |
Missense |
19/28 |
- |
4 |
7-55242501-G-T |
c.2271G>T |
p.K757N |
Missense |
19/28 |
- |
6 |
7-55242502-GGAA-G |
c.2272_2274del |
p.E758del |
InFrameDeletion |
19/28 |
- |
7 |
7-55242502-G-A |
c.2272G>A |
p.E758K |
Missense |
19/28 |
- |
3 |
7-55242503-A-G |
c.2273A>G |
p.E758G |
Missense |
19/28 |
- |
3 |
7-55242504-A-C |
c.2274A>C |
p.E758D |
Missense |
19/28 |
- |
4 |
7-55242504-A-T |
c.2274A>T |
p.E758D |
Missense |
19/28 |
- |
4 |
7-55242504-A-G |
c.2274A>G |
p.E758= |
Synonymous |
19/28 |
- |
2 |
7-55242505-AATC-A |
c.2275_2277del |
p.I759del |
InFrameDeletion |
19/28 |
- |
37 |
7-55242505-ATC-GCAACAGCA |
c.2275_2277delinsGCAACAGCA |
p.I759delinsATA |
MultiAAMissense |
19/28 |
- |
1 |
7-55242505-AT-CCTAG |
c.2275_2276delinsCCTAG |
p.I759delinsPS |
MultiAAMissense |
19/28 |
- |
1 |
7-55242505-AT-CCTAA |
c.2275_2276delinsCCTAA |
p.I759delinsPN |
MultiAAMissense |
19/28 |
- |
1 |
7-55242505-ATC-CCTACA |
c.2275_2277delinsCCTACA |
p.I759delinsPT |
MultiAAMissense |
19/28 |
- |
1 |
7-55242505-AT-GC |
c.2275_2276delinsGC |
p.I759A |
Missense |
19/28 |
- |
2 |
7-55242505-ATC-GGTGAGGGT |
c.2275_2277delinsGGTGAGGGT |
p.I759delinsGEG |
MultiAAMissense |
19/28 |
- |
1 |
7-55242505-A-G |
c.2275A>G |
p.I759V |
Missense |
19/28 |
- |
1 |
7-55242506-T-C |
c.2276T>C |
p.I759T |
Missense |
19/28 |
- |
1 |
7-55242506-T-A |
c.2276T>A |
p.I759N |
Missense |
19/28 |
- |
3 |
7-55242506-T-G |
c.2276T>G |
p.I759S |
Missense |
19/28 |
- |
4 |
7-55242507-C-G |
c.2277C>G |
p.I759M |
Missense |
19/28 |
- |
4 |
7-55242507-C-A |
c.2277C>A |
p.I759= |
Synonymous |
19/28 |
- |
1 |
7-55242507-C-T |
c.2277C>T |
p.I759= |
Synonymous |
19/28 |
- |
1 |
7-55242508-C-T |
c.2278C>T |
p.L760F |
Missense |
19/28 |
- |
2 |
7-55242505-ATCC-A |
c.2278_2280del |
p.L760del |
InFrameDeletion |
19/28 |
- |
2 |
7-55242508-C-A |
c.2278C>A |
p.L760I |
Missense |
19/28 |
- |
1 |
7-55242509-T-C |
c.2279T>C |
p.L760P |
Missense |
19/28 |
- |
2 |
7-55242509-T-G |
c.2279T>G |
p.L760R |
Missense |
19/28 |
- |
3 |
7-55242510-C-T |
c.2280C>T |
p.L760= |
Synonymous |
19/28 |
- |
1 |
7-55242510-C-G |
c.2280C>G |
p.L760= |
Synonymous |
19/28 |
- |
1 |
7-55242510-C-A |
c.2280C>A |
p.L760= |
Synonymous |
19/28 |
- |
1 |
7-55242511-G-A |
c.2281G>A |
p.D761N |
Missense |
19/28 |
- |
26 |
7-55242511-G-T |
c.2281G>T |
p.D761Y |
Missense |
19/28 |
- |
222 |
7-55242511-GAT-CAA |
c.2281_2283delinsCAA |
p.D761Q |
Missense |
19/28 |
- |
1 |
7-55242511-G-C |
c.2281G>C |
p.D761H |
Missense |
19/28 |
- |
2 |
7-55242512-A-G |
c.2282A>G |
p.D761G |
Missense |
19/28 |
- |
4 |
7-55242514-G-A |
c.2283+1G>A |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55242582-G-A |
c.2283+69G>A |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55242609-A-G |
c.2283+96A>G |
- |
IntronicSNV |
- |
19/27 |
7 |
7-55242616-C-T |
c.2283+103C>T |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55243754-A-G |
c.2283+1241A>G |
- |
IntronicSNV |
- |
19/27 |
3 |
7-55244030-T-C |
c.2283+1517T>C |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55244738-C-A |
c.2283+2225C>A |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55244738-C-T |
c.2283+2225C>T |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55245364-G-C |
c.2283+2851G>C |
- |
IntronicSNV |
- |
19/27 |
6 |
7-55245507-A-G |
c.2283+2994A>G |
- |
IntronicSNV |
- |
19/27 |
11 |
7-55245647-T-C |
c.2283+3134T>C |
- |
IntronicSNV |
- |
19/27 |
5 |
7-55245717-G-A |
c.2283+3204G>A |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55245717-G-C |
c.2283+3204G>C |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55247334-C-G |
c.2284-1652C>G |
- |
IntronicSNV |
- |
19/27 |
2 |
7-55247334-C-T |
c.2284-1652C>T |
- |
IntronicSNV |
- |
19/27 |
2 |
7-55247442-A-T |
c.2284-1544A>T |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55247588-G-A |
c.2284-1398G>A |
- |
IntronicSNV |
- |
19/27 |
3 |
7-55247610-C-T |
c.2284-1376C>T |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55248926-T-C |
c.2284-60T>C |
- |
IntronicSNV |
- |
19/27 |
5 |
7-55248986-G-A |
c.2284G>A |
p.E762K |
Missense |
20/28 |
- |
4 |
7-55248986-G-T |
c.2284G>T |
p.E762* |
Nonsense |
20/28 |
- |
1 |
7-55248987-A-G |
c.2285A>G |
p.E762G |
Missense |
20/28 |
- |
3 |
7-55248988-A-G |
c.2286A>G |
p.E762= |
Synonymous |
20/28 |
- |
2 |
7-55248989-G-T |
c.2287G>T |
p.A763S |
Missense |
20/28 |
- |
1 |
7-55248989-G-A |
c.2287G>A |
p.A763T |
Missense |
20/28 |
- |
2 |
7-55248990-C-T |
c.2288C>T |
p.A763V |
Missense |
20/28 |
- |
2 |
7-55248990-C-A |
c.2288C>A |
p.A763D |
Missense |
20/28 |
- |
1 |
7-55248989-G-GCCCT |
c.2289_2290insCTCC |
p.Y764Lfs*134 |
Frameshift |
20/28 |
- |
1 |
7-55248991-C-T |
c.2289C>T |
p.A763= |
Synonymous |
20/28 |
- |
1 |
7-55248991-C-CTTTCAAGAGGCA |
c.2290_2291insTTCAAGAGGCAT |
p.A763_Y764insFQEA |
InFrameInsertion |
20/28 |
- |
10 |
7-55248992-T-C |
c.2290T>C |
p.Y764H |
Missense |
20/28 |
- |
1 |
7-55248991-C-CTTTCAACAAGCA |
c.2290_2291insTTCAACAAGCAT |
p.A763_Y764insFQQA |
InFrameInsertion |
20/28 |
- |
1 |
7-55248992-T-G |
c.2290T>G |
p.Y764D |
Missense |
20/28 |
- |
1 |
7-55248993-A-G |
c.2291A>G |
p.Y764C |
Missense |
20/28 |
- |
1 |
7-55248993-A-C |
c.2291A>C |
p.Y764S |
Missense |
20/28 |
- |
1 |
7-55248994-C-T |
c.2292C>T |
p.Y764= |
Synonymous |
20/28 |
- |
1 |
7-55248995-G-A |
c.2293G>A |
p.V765M |
Missense |
20/28 |
- |
15 |
7-55248995-G-C |
c.2293G>C |
p.V765L |
Missense |
20/28 |
- |
4 |
7-55248995-G-T |
c.2293G>T |
p.V765L |
Missense |
20/28 |
- |
3 |
7-55248996-T-C |
c.2294T>C |
p.V765A |
Missense |
20/28 |
- |
18 |
7-55248996-T-G |
c.2294T>G |
p.V765G |
Missense |
20/28 |
- |
5 |
7-55248998-AT-CA |
c.2296_2297delinsCA |
p.M766Q |
Missense |
20/28 |
- |
7 |
7-55248998-A-G |
c.2296A>G |
p.M766V |
Missense |
20/28 |
- |
2 |
7-55248998-ATG-TTT |
c.2296_2298delinsTTT |
p.M766F |
Missense |
20/28 |
- |
3 |
7-55248998-AT-GC |
c.2296_2297delinsGC |
p.M766A |
Missense |
20/28 |
- |
1 |
7-55248998-A-C |
c.2296A>C |
p.M766L |
Missense |
20/28 |
- |
1 |
7-55248998-A-T |
c.2296A>T |
p.M766L |
Missense |
20/28 |
- |
1 |
7-55248999-T-C |
c.2297T>C |
p.M766T |
Missense |
20/28 |
- |
6 |
7-55249000-G-C |
c.2298G>C |
p.M766I |
Missense |
20/28 |
- |
2 |
7-55249000-G-A |
c.2298G>A |
p.M766I |
Missense |
20/28 |
- |
2 |
7-55249000-G-T |
c.2298G>T |
p.M766I |
Missense |
20/28 |
- |
2 |
7-55249001-G-A |
c.2299G>A |
p.A767T |
Missense |
20/28 |
- |
4 |
7-55249001-G-T |
c.2299G>T |
p.A767S |
Missense |
20/28 |
- |
1 |
7-55249001-GC-AT |
c.2299_2300delinsAT |
p.A767I |
Missense |
20/28 |
- |
1 |
7-55249001-GGCC-G |
c.2299_2301del |
p.A767del |
InFrameDeletion |
20/28 |
- |
1 |
7-55249002-C-T |
c.2300C>T |
p.A767V |
Missense |
20/28 |
- |
10 |
7-55249000-G-GGCAAGCGTA |
c.2300_2301insAAGCGTAGC |
p.A767_V769dup |
InFrameInsertion |
20/28 |
- |
3 |
7-55248998-A-ATGGCCAGCG |
c.2300_2308dup |
p.A767_V769dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55248998-ATGGCCAGCG-A |
c.2300_2308del |
p.A767_V769del |
InFrameDeletion |
20/28 |
- |
1 |
7-55249003-C-CGCATGGACA |
c.2301_2302insGCATGGACA |
p.A767_S768insAWT |
InFrameInsertion |
20/28 |
- |
1 |
7-55249003-C-A |
c.2301C>A |
p.A767= |
Synonymous |
20/28 |
- |
1 |
7-55249003-C-G |
c.2301C>G |
p.A767= |
Synonymous |
20/28 |
- |
1 |
7-55249003-C-T |
c.2301C>T |
p.A767= |
Synonymous |
20/28 |
- |
1 |
7-55249004-AGC-TGA |
c.2302_2304delinsTGA |
p.S768* |
Nonsense |
20/28 |
- |
4 |
7-55249004-AG-TT |
c.2302_2303delinsTT |
p.S768F |
Missense |
20/28 |
- |
1 |
7-55249004-AGC-CAA |
c.2302_2304delinsCAA |
p.S768Q |
Missense |
20/28 |
- |
1 |
7-55249004-AG-CT |
c.2302_2303inv |
p.S768L |
Missense |
20/28 |
- |
5 |
7-55249005-GCGTG-TCCTT |
c.2303_2307delinsTCCTT |
p.S768_V769delinsIL |
MultiAAMissense |
20/28 |
- |
2 |
7-55249004-AG-CC |
c.2302_2303delinsCC |
p.S768P |
Missense |
20/28 |
- |
1 |
7-55249004-A-T |
c.2302A>T |
p.S768C |
Missense |
20/28 |
- |
6 |
7-55249004-A-G |
c.2302A>G |
p.S768G |
Missense |
20/28 |
- |
3 |
7-55249004-AG-GA |
c.2302_2303delinsGA |
p.S768D |
Missense |
20/28 |
- |
1 |
7-55249004-AGC-GAG |
c.2302_2304delinsGAG |
p.S768E |
Missense |
20/28 |
- |
1 |
7-55249004-AG-GT |
c.2302_2303delinsGT |
p.S768V |
Missense |
20/28 |
- |
1 |
7-55249004-AG-GC |
c.2302_2303delinsGC |
p.S768A |
Missense |
20/28 |
- |
1 |
7-55249003-C-CACACTTGCA |
c.2302_2303insCACTTGCAA |
p.A767_S768insTLA |
InFrameInsertion |
20/28 |
- |
1 |
7-55249005-GC-TCCTT |
c.2303_2304delinsTCCTT |
p.S768delinsIL |
MultiAAMissense |
20/28 |
- |
1 |
7-55249005-G-T |
c.2303G>T |
p.S768I |
Missense |
20/28 |
- |
833 |
7-55249005-G-A |
c.2303G>A |
p.S768N |
Missense |
20/28 |
- |
11 |
7-55249005-GC-TT |
c.2303_2304delinsTT |
p.S768I |
Missense |
20/28 |
- |
2 |
7-55249005-GCG-TCT |
c.2303_2305delinsTCT |
p.S768_V769delinsIL |
MultiAAMissense |
20/28 |
- |
1 |
7-55249002-C-CCAGCGTGGA |
c.2303_2311dup |
p.S768_D770dup |
InFrameInsertion |
20/28 |
- |
3 |
7-55249006-C-G |
c.2304C>G |
p.S768R |
Missense |
20/28 |
- |
6 |
7-55249006-C-A |
c.2304C>A |
p.S768R |
Missense |
20/28 |
- |
6 |
7-55249004-A-C |
c.2302A>C |
p.S768R |
Missense |
20/28 |
- |
6 |
7-55249006-C-T |
c.2304C>T |
p.S768= |
Synonymous |
20/28 |
- |
2 |
7-55248998-A-ATGGCCAGCT |
c.2304_2305insTTGGCCAGC |
p.S768_V769insLAS |
InFrameInsertion |
20/28 |
- |
1 |
7-55249007-G-A |
c.2305G>A |
p.V769M |
Missense |
20/28 |
- |
31 |
7-55249007-G-C |
c.2305G>C |
p.V769L |
Missense |
20/28 |
- |
25 |
7-55249007-G-T |
c.2305G>T |
p.V769L |
Missense |
20/28 |
- |
43 |
7-55249007-GTG-ATCCTT |
c.2305_2307delinsATCCTT |
p.V769delinsIL |
MultiAAMissense |
20/28 |
- |
2 |
7-55249007-GTG-ATC |
c.2305_2307delinsATC |
p.V769I |
Missense |
20/28 |
- |
2 |
7-55249008-T-C |
c.2306T>C |
p.V769A |
Missense |
20/28 |
- |
3 |
7-55249002-C-CCAGCGTAGA |
c.2306_2307insAGACAGCGT |
p.S768_D770dup |
InFrameInsertion |
20/28 |
- |
3 |
7-55249009-G-A |
c.2307G>A |
p.V769= |
Synonymous |
20/28 |
- |
1 |
7-55249009-G-C |
c.2307G>C |
p.V769= |
Synonymous |
20/28 |
- |
1 |
7-55249009-G-T |
c.2307G>T |
p.V769= |
Synonymous |
20/28 |
- |
2 |
7-55249009-G-GT |
c.2307_2308insT |
p.D770* |
Nonsense |
20/28 |
- |
1 |
7-55249001-G-GCCAGCGTGA |
c.2307_2308insACCAGCGTG |
p.V769_D770insTSV |
InFrameInsertion |
20/28 |
- |
1 |
7-55249008-T-TGGACAACCC |
c.2307_2315dup |
p.D770_P772dup |
InFrameInsertion |
20/28 |
- |
2 |
7-55249009-G-GTGT |
c.2307_2308insTGT |
p.V769_D770insC |
InFrameInsertion |
20/28 |
- |
1 |
7-55249011-AC-GTTAT |
c.2309_2310delinsGTTAT |
p.D770delinsGY |
MultiAAMissense |
20/28 |
- |
20 |
7-55249009-G-GGCAAGCGTA |
c.2308_2309insCAAGCGTAG |
p.A767_V769dup |
InFrameInsertion |
20/28 |
- |
14 |
7-55249010-G-T |
c.2308G>T |
p.D770Y |
Missense |
20/28 |
- |
3 |
7-55249009-G-GGGTACAGTA |
c.2308_2309insGTACAGTAG |
p.V769_D770insGTV |
InFrameInsertion |
20/28 |
- |
1 |
7-55249011-A-GTAT |
c.2309delinsGTAT |
p.D770delinsGI |
MultiAAMissense |
20/28 |
- |
2 |
7-55249009-G-GGGTTGTGTA |
c.2308_2309insGTTGTGTAG |
p.V769_D770insGCV |
InFrameInsertion |
20/28 |
- |
1 |
7-55249010-GGAC-G |
c.2308_2310del |
p.D770del |
InFrameDeletion |
20/28 |
- |
1 |
7-55249009-G-GGCCA |
c.2308_2309insCCAG |
p.D770Afs*128 |
Frameshift |
20/28 |
- |
1 |
7-55249009-G-GGGCA |
c.2308_2309insGCAG |
p.D770Gfs*128 |
Frameshift |
20/28 |
- |
1 |
7-55249010-G-GGGGT |
c.2308_2309insGGGT |
p.D770Gfs*128 |
Frameshift |
20/28 |
- |
1 |
7-55249010-GAC-CTTGACAACCCTCAT |
c.2308_2310delinsCTTGACAACCCTCAT |
p.D770delinsLDNPH |
MultiAAMissense |
20/28 |
- |
1 |
7-55249010-G-A |
c.2308G>A |
p.D770N |
Missense |
20/28 |
- |
7 |
7-55249010-GA-AT |
c.2308_2309delinsAT |
p.D770I |
Missense |
20/28 |
- |
1 |
7-55249008-T-TGGGTCAAAG |
c.2308_2309insGTCAAAGGG |
p.V769_D770insGQR |
InFrameInsertion |
20/28 |
- |
1 |
7-55249008-T-TGGGCAC |
c.2308_2309insGCACGG |
p.V769_D770insGT |
InFrameInsertion |
20/28 |
- |
1 |
7-55249009-G-GGTAGGTGTA |
c.2308_2309insTAGGTGTAG |
p.V769_D770insVGV |
InFrameInsertion |
20/28 |
- |
1 |
7-55249011-AC-TAGGT |
c.2309_2310delinsTAGGT |
p.D770delinsVG |
MultiAAMissense |
20/28 |
- |
1 |
7-55249009-G-GGTA |
c.2308_2309insTAG |
p.V769dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55249010-G-GGTT |
c.2308_2309insGTT |
p.D770delinsGY |
MultiAAMissense |
20/28 |
- |
2 |
7-55249011-A-C |
c.2309A>C |
p.D770A |
Missense |
20/28 |
- |
3 |
7-55249011-A-G |
c.2309A>G |
p.D770G |
Missense |
20/28 |
- |
4 |
7-55249012-C-CGGT |
c.2310_2311insGGT |
p.D770_N771insG |
InFrameInsertion |
20/28 |
- |
21 |
7-55249012-C-CGGTCTT |
c.2310_2311insGGTCTT |
p.D770_N771insGL |
InFrameInsertion |
20/28 |
- |
2 |
7-55249012-C-CGGG |
c.2310_2311insGGG |
p.D770_N771insG |
InFrameInsertion |
20/28 |
- |
3 |
7-55249012-C-CGCATACGTGATG |
c.2310_2311insGCATACGTGATG |
p.D770_N771insAYVM |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CTAT |
c.2310_2311insTAT |
p.D770_N771insY |
InFrameInsertion |
20/28 |
- |
2 |
7-55249011-A-ACGG |
c.2310_2311insGGC |
p.D770_N771insG |
InFrameInsertion |
20/28 |
- |
2 |
7-55249012-C-CCATCCTCATCCT |
c.2310_2311insCATCCTCATCCT |
p.D770_N771insHPHP |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CGCACCGTGG |
c.2310_2311insGCACCGTGG |
p.D770_N771insAPW |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CGGGTTA |
c.2310_2311insGGGTTA |
p.D770_N771insGL |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CGGGTTT |
c.2310_2311insGGGTTT |
p.D770_N771insGF |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-T |
c.2310C>T |
p.D770= |
Synonymous |
20/28 |
- |
1 |
7-55249011-A-ACGGCAC |
c.2310_2311insGGCACC |
p.D770_N771insGT |
InFrameInsertion |
20/28 |
- |
1 |
7-55249010-G-GACC |
c.2310_2311insCAC |
p.D770_N771insH |
InFrameInsertion |
20/28 |
- |
1 |
7-55249011-A-ACCAGCGTGG |
c.2310_2311insCAGCGTGGC |
p.D770_N771insQRG |
InFrameInsertion |
20/28 |
- |
1 |
7-55249009-G-GGACGGTAGCGTA |
c.2310_2311insGGTAGCGTAGAC |
p.D770_N771insGSVD |
InFrameInsertion |
20/28 |
- |
1 |
7-55249011-A-AC |
c.2310dup |
p.N771Qfs*126 |
Frameshift |
20/28 |
- |
1 |
7-55249009-G-GGACGGT |
c.2310_2311insGGTGAC |
p.D770_N771insGD |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CGCATGGACA |
c.2310_2311insGCATGGACA |
p.D770_N771insAWT |
InFrameInsertion |
20/28 |
- |
1 |
7-55249011-A-ACGGG |
c.2310_2311insGGGC |
p.N771Gfs*127 |
Frameshift |
20/28 |
- |
1 |
7-55249007-G-GTGGACGGGC |
c.2310_2311insGGGCTGGAC |
p.D770_N771insGLD |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CGGTTTT |
c.2310_2311insGGTTTT |
p.D770_N771insGF |
InFrameInsertion |
20/28 |
- |
1 |
7-55249013-A-C |
c.2311A>C |
p.N771H |
Missense |
20/28 |
- |
1 |
7-55249014-AC-CACAT |
c.2312_2313delinsCACAT |
p.N771delinsTH |
MultiAAMissense |
20/28 |
- |
3 |
7-55249013-AA-CT |
c.2311_2312delinsCT |
p.N771L |
Missense |
20/28 |
- |
1 |
7-55249013-AAC-GGTTTT |
c.2311_2313delinsGGTTTT |
p.N771delinsGF |
MultiAAMissense |
20/28 |
- |
4 |
7-55249013-AAC-GGTTAT |
c.2311_2313delinsGGTTAT |
p.N771delinsGY |
MultiAAMissense |
20/28 |
- |
8 |
7-55249013-AAC-CATGTA |
c.2311_2313delinsCATGTA |
p.N771delinsHV |
MultiAAMissense |
20/28 |
- |
1 |
7-55249013-AA-GGGTT |
c.2311_2312delinsGGGTT |
p.N771delinsGF |
MultiAAMissense |
20/28 |
- |
2 |
7-55249014-AC-GCGGT |
c.2312_2313delinsGCGGT |
p.N771delinsSG |
MultiAAMissense |
20/28 |
- |
1 |
7-55249013-AA-GGTAG |
c.2311_2312delinsGGTAG |
p.N771delinsGS |
MultiAAMissense |
20/28 |
- |
1 |
7-55249013-A-ACCCCCC |
c.2311_2312insCCCCCC |
p.N771delinsTPH |
MultiAAMissense |
20/28 |
- |
1 |
7-55249013-AAC-TTTCAT |
c.2311_2313delinsTTTCAT |
p.N771delinsFH |
MultiAAMissense |
20/28 |
- |
3 |
7-55249012-C-CAGGGTA |
c.2311_2312insGGGTAA |
p.D770_N771insRV |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CAGCCTTGCA |
c.2311_2312insGCCTTGCAA |
p.D770_N771insSLA |
InFrameInsertion |
20/28 |
- |
1 |
7-55249013-A-ACAC |
c.2311_2312insCAC |
p.N771delinsTH |
MultiAAMissense |
20/28 |
- |
1 |
7-55249013-AA-GG |
c.2311_2312delinsGG |
p.N771G |
Missense |
20/28 |
- |
1 |
7-55249013-AAC-CATCAT |
c.2311_2313delinsCATCAT |
p.N771delinsHH |
MultiAAMissense |
20/28 |
- |
1 |
7-55249013-A-G |
c.2311A>G |
p.N771D |
Missense |
20/28 |
- |
2 |
7-55249013-A-GGTT |
c.2311delinsGGTT |
p.N771delinsGY |
MultiAAMissense |
20/28 |
- |
1 |
7-55249010-GACA-G |
c.2311_2313del |
p.N771del |
InFrameDeletion |
20/28 |
- |
2 |
7-55249009-G-GGACAGCGTA |
c.2311_2312insGCGTAGACA |
p.S768_D770dup |
InFrameInsertion |
20/28 |
- |
3 |
7-55249013-AA-TT |
c.2311_2312inv |
p.N771F |
Missense |
20/28 |
- |
1 |
7-55249011-A-ACAC |
c.2311_2312insCCA |
p.D770_N771insT |
InFrameInsertion |
20/28 |
- |
1 |
7-55249014-A-AGGG |
c.2312_2313insGGG |
p.N771delinsKG |
MultiAAMissense |
20/28 |
- |
1 |
7-55249014-A-C |
c.2312A>C |
p.N771T |
Missense |
20/28 |
- |
10 |
7-55249014-A-G |
c.2312A>G |
p.N771S |
Missense |
20/28 |
- |
3 |
7-55249014-A-T |
c.2312A>T |
p.N771I |
Missense |
20/28 |
- |
1 |
7-55249013-A-AAACCCCCCC |
c.2312_2313insACCCCCCCA |
p.N771delinsKPPH |
MultiAAMissense |
20/28 |
- |
1 |
7-55249014-A-AACCCCCCCC |
c.2312_2313insACCCCCCCC |
p.N771delinsKPPP |
MultiAAMissense |
20/28 |
- |
1 |
7-55249015-C-CACA |
c.2313_2314insACA |
p.N771_P772insT |
InFrameInsertion |
20/28 |
- |
2 |
7-55249015-C-CGTAAGGCAA |
c.2313_2314insGTAAGGCAA |
p.N771_P772insVRQ |
InFrameInsertion |
20/28 |
- |
1 |
7-55249015-C-CGGT |
c.2313_2314insGGT |
p.N771_P772insG |
InFrameInsertion |
20/28 |
- |
2 |
7-55249015-C-CTGTGCATAT |
c.2313_2314insTGTGCATAT |
p.N771_P772insCAY |
InFrameInsertion |
20/28 |
- |
1 |
7-55249015-C-CACG |
c.2313_2314insACG |
p.N771_P772insT |
InFrameInsertion |
20/28 |
- |
1 |
7-55249014-A-ACAC |
c.2313_2314insACC |
p.N771_P772insT |
InFrameInsertion |
20/28 |
- |
1 |
7-55249015-C-T |
c.2313C>T |
p.N771= |
Synonymous |
20/28 |
- |
1 |
7-55249015-C-CGGTTAT |
c.2313_2314insGGTTAT |
p.N771_P772insGY |
InFrameInsertion |
20/28 |
- |
1 |
7-55249015-C-A |
c.2313C>A |
p.N771K |
Missense |
20/28 |
- |
1 |
7-55249016-C-T |
c.2314C>T |
p.P772S |
Missense |
20/28 |
- |
6 |
7-55249012-C-CAACCAT |
c.2314_2315insATAACC |
p.N771_P772insHN |
InFrameInsertion |
20/28 |
- |
1 |
7-55249015-C-CCTT |
c.2314_2315insTTC |
p.N771_P772insL |
InFrameInsertion |
20/28 |
- |
1 |
7-55249016-C-A |
c.2314C>A |
p.P772T |
Missense |
20/28 |
- |
2 |
7-55249015-C-CCAT |
c.2314_2315insATC |
p.N771_P772insH |
InFrameInsertion |
20/28 |
- |
1 |
7-55249016-CCC-AAGGGT |
c.2314_2316delinsAAGGGT |
p.P772delinsKG |
MultiAAMissense |
20/28 |
- |
1 |
7-55249016-CC-AT |
c.2314_2315delinsAT |
p.P772I |
Missense |
20/28 |
- |
1 |
7-55249016-C-CACA |
c.2314_2315insACA |
p.P772delinsHT |
MultiAAMissense |
20/28 |
- |
1 |
7-55249017-C-G |
c.2315C>G |
p.P772R |
Missense |
20/28 |
- |
4 |
7-55249009-G-GGACAACCCT |
c.2315_2316insTGACAACCC |
p.D770_P772dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CAACCCTCAT |
c.2315_2316insTCATAACCC |
p.N771_H773dup |
InFrameInsertion |
20/28 |
- |
4 |
7-55249012-C-CAACCCTGGT |
c.2315_2316insTGGTAACCC |
p.P772_H773insGNP |
InFrameInsertion |
20/28 |
- |
1 |
7-55249014-ACCC-A |
c.2315_2317del |
p.P772del |
InFrameDeletion |
20/28 |
- |
5 |
7-55249017-C-A |
c.2315C>A |
p.P772H |
Missense |
20/28 |
- |
3 |
7-55249012-C-CAACCCTTAT |
c.2315_2316insTTATAACCC |
p.P772_H773insYNP |
InFrameInsertion |
20/28 |
- |
1 |
7-55249015-C-CCCTCAT |
c.2315_2316insTCATCC |
p.P772_H773dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CAACCCT |
c.2315_2316insTAACCC |
p.N771_P772dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55249017-C-T |
c.2315C>T |
p.P772L |
Missense |
20/28 |
- |
1 |
7-55249011-A-ACAACCCAGG |
c.2315_2316insAGGCAACCC |
p.P772_H773insGNP |
InFrameInsertion |
20/28 |
- |
1 |
7-55249010-G-GACAACCCCT |
c.2316_2317insTACAACCCC |
p.P772_H773insYNP |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CTATAACCCT |
c.2316_2317insTATAACCCT |
p.P772_H773insYNP |
InFrameInsertion |
20/28 |
- |
2 |
7-55249018-C-CGACAACCCT |
c.2316_2317insGACAACCCT |
p.D770_P772dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CGGTAACCCT |
c.2316_2317insGGTAACCCT |
p.P772_H773insGNP |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CACAACACCT |
c.2316_2317insACAACACCT |
p.P772_H773insTTP |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CGTA |
c.2316_2317insGTA |
p.P772_H773insV |
InFrameInsertion |
20/28 |
- |
1 |
7-55249017-C-CCAA |
c.2316_2317insAAC |
p.P772_H773insN |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CAACCCT |
c.2316_2317insAACCCT |
p.N771_P772dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55249019-C-T |
c.2317C>T |
p.H773Y |
Missense |
20/28 |
- |
14 |
7-55249019-CAC-TATAACCCTTAT |
c.2317_2319delinsTATAACCCTTAT |
p.H773delinsYNPY |
MultiAAMissense |
20/28 |
- |
1 |
7-55249019-C-CGTT |
c.2317_2318insGTT |
p.H773delinsRY |
MultiAAMissense |
20/28 |
- |
1 |
7-55249020-ACG-TTA |
c.2318_2320delinsTTA |
p.H773_V774delinsLM |
MultiAAMissense |
20/28 |
- |
2 |
7-55249019-CACG-AGGA |
c.2317_2320delinsAGGA |
p.H773_V774delinsRM |
MultiAAMissense |
20/28 |
- |
1 |
7-55249019-C-TCCAACCCCT |
c.2317delinsTCCAACCCCT |
p.H773delinsSNPY |
MultiAAMissense |
20/28 |
- |
1 |
7-55249019-CA-GG |
c.2317_2318delinsGG |
p.H773G |
Missense |
20/28 |
- |
1 |
7-55249019-CA-AT |
c.2317_2318delinsAT |
p.H773I |
Missense |
20/28 |
- |
1 |
7-55249019-CAC-TAA |
c.2317_2319delinsTAA |
p.H773* |
Nonsense |
20/28 |
- |
1 |
7-55249019-CA-GC |
c.2317_2318delinsGC |
p.H773A |
Missense |
20/28 |
- |
1 |
7-55249019-CA-GT |
c.2317_2318delinsGT |
p.H773V |
Missense |
20/28 |
- |
1 |
7-55249020-A-G |
c.2318A>G |
p.H773R |
Missense |
20/28 |
- |
16 |
7-55249020-A-T |
c.2318A>T |
p.H773L |
Missense |
20/28 |
- |
26 |
7-55249018-C-CCATGCA |
c.2318_2319insTGCACA |
p.H773_V774insAH |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CCATGGT |
c.2318_2319insTGGTCA |
p.H773_V774insGH |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CCATGTA |
c.2318_2319insTGTACA |
p.H773_V774dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CCATACA |
c.2318_2319insTACACA |
p.H773_V774insTH |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CCAT |
c.2318_2319insTCA |
p.H773dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55249017-C-CCCATAA |
c.2318_2319insTAACCA |
p.H773_V774insNH |
InFrameInsertion |
20/28 |
- |
1 |
7-55249020-A-AACC |
c.2318_2319insACC |
p.H773delinsQP |
MultiAAMissense |
20/28 |
- |
1 |
7-55249020-A-C |
c.2318A>C |
p.H773P |
Missense |
20/28 |
- |
1 |
7-55249021-C-CAACCCTCAT |
c.2319_2320insAACCCTCAT |
p.N771_H773dup |
InFrameInsertion |
20/28 |
- |
6 |
7-55249019-C-CACCCTA |
c.2319_2320insCCTAAC |
p.H773_V774insPN |
InFrameInsertion |
20/28 |
- |
1 |
7-55249021-C-CTAT |
c.2319_2320insTAT |
p.H773_V774insY |
InFrameInsertion |
20/28 |
- |
1 |
7-55249021-C-T |
c.2319C>T |
p.H773= |
Synonymous |
20/28 |
- |
3 |
7-55249021-C-CCAT |
c.2319_2320insCAT |
p.H773dup |
InFrameInsertion |
20/28 |
- |
8 |
7-55249021-C-CCCTCAT |
c.2319_2320insCCTCAT |
p.P772_H773dup |
InFrameInsertion |
20/28 |
- |
2 |
7-55249021-C-CTATAACCCTTAT |
c.2319_2320insTATAACCCTTAT |
p.H773_V774insYNPY |
InFrameInsertion |
20/28 |
- |
1 |
7-55249022-G-A |
c.2320G>A |
p.V774M |
Missense |
20/28 |
- |
50 |
7-55249022-GTG-CATTGT |
c.2320_2322delinsCATTGT |
p.V774delinsHC |
MultiAAMissense |
20/28 |
- |
1 |
7-55249022-G-C |
c.2320G>C |
p.V774L |
Missense |
20/28 |
- |
2 |
7-55249022-G-T |
c.2320G>T |
p.V774L |
Missense |
20/28 |
- |
2 |
7-55249021-C-CGCACAT |
c.2320_2321insCACATG |
p.H773_V774insAH |
InFrameInsertion |
20/28 |
- |
5 |
7-55249021-C-CGGTACAAACCCTCAT |
c.2320_2321insGTACAAACCCTCATG |
p.H773_V774insGTNPH |
InFrameInsertion |
20/28 |
- |
1 |
7-55249023-T-C |
c.2321T>C |
p.V774A |
Missense |
20/28 |
- |
7 |
7-55249023-T-TCCAC |
c.2321_2322insCCAC |
p.C775Hfs*123 |
Frameshift |
20/28 |
- |
1 |
7-55249024-G-GCATGTA |
c.2322_2323insCATGTA |
p.H773_V774dup |
InFrameInsertion |
20/28 |
- |
4 |
7-55249024-G-GCCAC |
c.2322_2323insCCAC |
p.C775Pfs*123 |
Frameshift |
20/28 |
- |
1 |
7-55249024-G-C |
c.2322G>C |
p.V774= |
Synonymous |
20/28 |
- |
2 |
7-55249024-G-A |
c.2322G>A |
p.V774= |
Synonymous |
20/28 |
- |
1 |
7-55249024-G-T |
c.2322G>T |
p.V774= |
Synonymous |
20/28 |
- |
1 |
7-55249024-G-GCCACGT |
c.2322_2323insCCACGT |
p.V774_C775insPR |
InFrameInsertion |
20/28 |
- |
1 |
7-55249025-TG-AC |
c.2323_2324delinsAC |
p.C775T |
Missense |
20/28 |
- |
1 |
7-55249025-T-C |
c.2323T>C |
p.C775R |
Missense |
20/28 |
- |
2 |
7-55249021-CGT-C |
c.2323_2324del |
p.C775Pfs*121 |
Frameshift |
20/28 |
- |
1 |
7-55249026-G-T |
c.2324G>T |
p.C775F |
Missense |
20/28 |
- |
2 |
7-55249026-G-A |
c.2324G>A |
p.C775Y |
Missense |
20/28 |
- |
7 |
7-55249027-C-CTCCGTGATGGCT |
c.2325_2326insTCCGTGATGGCT |
p.C775_R776insSVMA |
InFrameInsertion |
20/28 |
- |
1 |
7-55249027-C-T |
c.2325C>T |
p.C775= |
Synonymous |
20/28 |
- |
1 |
7-55249028-C-T |
c.2326C>T |
p.R776C |
Missense |
20/28 |
- |
38 |
7-55249028-C-G |
c.2326C>G |
p.R776G |
Missense |
20/28 |
- |
13 |
7-55249028-C-A |
c.2326C>A |
p.R776S |
Missense |
20/28 |
- |
11 |
7-55249028-CG-GC |
c.2326_2327delinsGC |
p.R776A |
Missense |
20/28 |
- |
1 |
7-55249028-CGC-TGA |
c.2326_2328delinsTGA |
p.R776* |
Nonsense |
20/28 |
- |
3 |
7-55249028-CGC-TGG |
c.2326_2328delinsTGG |
p.R776W |
Missense |
20/28 |
- |
1 |
7-55249027-C-CCCTGCA |
c.2326_2327insCTGCAC |
p.C775_R776insPA |
InFrameInsertion |
20/28 |
- |
1 |
7-55249029-G-A |
c.2327G>A |
p.R776H |
Missense |
20/28 |
- |
87 |
7-55249029-G-T |
c.2327G>T |
p.R776L |
Missense |
20/28 |
- |
5 |
7-55249031-CT-GG |
c.2329_2330delinsGG |
p.L777G |
Missense |
20/28 |
- |
1 |
7-55249031-C-AT |
c.2329delinsAT |
p.L777Ifs*120 |
Frameshift |
20/28 |
- |
1 |
7-55249031-CTG-TGT |
c.2329_2331delinsTGT |
p.L777C |
Missense |
20/28 |
- |
1 |
7-55249031-C-A |
c.2329C>A |
p.L777M |
Missense |
20/28 |
- |
2 |
7-55249031-CTG-TTT |
c.2329_2331delinsTTT |
p.L777F |
Missense |
20/28 |
- |
2 |
7-55249032-T-A |
c.2330T>A |
p.L777Q |
Missense |
20/28 |
- |
4 |
7-55249032-T-C |
c.2330T>C |
p.L777P |
Missense |
20/28 |
- |
4 |
7-55249033-G-A |
c.2331G>A |
p.L777= |
Synonymous |
20/28 |
- |
1 |
7-55249034-C-G |
c.2332C>G |
p.L778V |
Missense |
20/28 |
- |
1 |
7-55249035-T-C |
c.2333T>C |
p.L778P |
Missense |
20/28 |
- |
2 |
7-55249035-T-A |
c.2333T>A |
p.L778Q |
Missense |
20/28 |
- |
1 |
7-55249037-G-T |
c.2335G>T |
p.G779C |
Missense |
20/28 |
- |
14 |
7-55249037-GG-TT |
c.2335_2336delinsTT |
p.G779F |
Missense |
20/28 |
- |
15 |
7-55249037-G-A |
c.2335G>A |
p.G779S |
Missense |
20/28 |
- |
7 |
7-55249037-GGC-ATG |
c.2335_2337delinsATG |
p.G779M |
Missense |
20/28 |
- |
1 |
7-55249038-G-T |
c.2336G>T |
p.G779V |
Missense |
20/28 |
- |
2 |
7-55249038-G-A |
c.2336G>A |
p.G779D |
Missense |
20/28 |
- |
4 |
7-55249041-T-G |
c.2339T>G |
p.I780S |
Missense |
20/28 |
- |
2 |
7-55249041-T-C |
c.2339T>C |
p.I780T |
Missense |
20/28 |
- |
1 |
7-55249043-T-C |
c.2341T>C |
p.C781R |
Missense |
20/28 |
- |
1 |
7-55249043-T-A |
c.2341T>A |
p.C781S |
Missense |
20/28 |
- |
1 |
7-55249044-G-T |
c.2342G>T |
p.C781F |
Missense |
20/28 |
- |
4 |
7-55249044-G-A |
c.2342G>A |
p.C781Y |
Missense |
20/28 |
- |
3 |
7-55249046-C-T |
c.2344C>T |
p.L782F |
Missense |
20/28 |
- |
1 |
7-55249046-CT-AA |
c.2344_2345delinsAA |
p.L782N |
Missense |
20/28 |
- |
1 |
7-55249047-T-C |
c.2345T>C |
p.L782P |
Missense |
20/28 |
- |
1 |
7-55249048-C-T |
c.2346C>T |
p.L782= |
Synonymous |
20/28 |
- |
1 |
7-55249049-A-G |
c.2347A>G |
p.T783A |
Missense |
20/28 |
- |
17 |
7-55249050-C-T |
c.2348C>T |
p.T783I |
Missense |
20/28 |
- |
6 |
7-55249051-C-A |
c.2349C>A |
p.T783= |
Synonymous |
20/28 |
- |
1 |
7-55249051-C-G |
c.2349C>G |
p.T783= |
Synonymous |
20/28 |
- |
1 |
7-55249051-C-T |
c.2349C>T |
p.T783= |
Synonymous |
20/28 |
- |
1 |
7-55249052-T-C |
c.2350T>C |
p.S784P |
Missense |
20/28 |
- |
7 |
7-55249052-T-A |
c.2350T>A |
p.S784T |
Missense |
20/28 |
- |
1 |
7-55249053-C-T |
c.2351C>T |
p.S784F |
Missense |
20/28 |
- |
14 |
7-55249053-C-A |
c.2351C>A |
p.S784Y |
Missense |
20/28 |
- |
3 |
7-55249055-A-G |
c.2353A>G |
p.T785A |
Missense |
20/28 |
- |
4 |
7-55249055-A-C |
c.2353A>C |
p.T785P |
Missense |
20/28 |
- |
2 |
7-55249056-C-T |
c.2354C>T |
p.T785I |
Missense |
20/28 |
- |
10 |
7-55249056-C-A |
c.2354C>A |
p.T785N |
Missense |
20/28 |
- |
2 |
7-55249056-C-G |
c.2354C>G |
p.T785S |
Missense |
20/28 |
- |
2 |
7-55249055-A-T |
c.2353A>T |
p.T785S |
Missense |
20/28 |
- |
1 |
7-55249056-CC-TG |
c.2354_2355delinsTG |
p.T785M |
Missense |
20/28 |
- |
1 |
7-55249057-C-G |
c.2355C>T |
p.T785= |
Synonymous |
20/28 |
- |
4 |
7-55249057-C-A |
c.2355C>A |
p.T785= |
Synonymous |
20/28 |
- |
4 |
7-55249057-C-T |
c.2355C>T |
p.T785= |
Synonymous |
20/28 |
- |
4 |
7-55249058-G-A |
c.2356G>A |
p.V786M |
Missense |
20/28 |
- |
19 |
7-55249058-G-C |
c.2356G>C |
p.V786L |
Missense |
20/28 |
- |
1 |
7-55249058-G-T |
c.2356G>T |
p.V786L |
Missense |
20/28 |
- |
1 |
7-55249059-T-C |
c.2357T>C |
p.V786A |
Missense |
20/28 |
- |
2 |
7-55249059-T-A |
c.2357T>A |
p.V786E |
Missense |
20/28 |
- |
1 |
7-55249061-C-A |
c.2359C>A |
p.Q787K |
Missense |
20/28 |
- |
3 |
7-55249061-C-G |
c.2359C>G |
p.Q787E |
Missense |
20/28 |
- |
1 |
7-55249061-C-T |
c.2359C>T |
p.Q787* |
Nonsense |
20/28 |
- |
1 |
7-55249062-A-G |
c.2360A>G |
p.Q787R |
Missense |
20/28 |
- |
6 |
7-55249062-A-T |
c.2360A>T |
p.Q787L |
Missense |
20/28 |
- |
3 |
7-55249062-A-C |
c.2360A>C |
p.Q787P |
Missense |
20/28 |
- |
1 |
7-55249063-G-A |
c.2361G>A |
p.Q787= |
Synonymous |
20/28 |
- |
124 |
7-55249063-G-C |
c.2361G>C |
p.Q787H |
Missense |
20/28 |
- |
22 |
7-55249063-G-T |
c.2361G>T |
p.Q787H |
Missense |
20/28 |
- |
1 |
7-55249064-C-G |
c.2362C>G |
p.L788V |
Missense |
20/28 |
- |
2 |
7-55249064-C-A |
c.2362C>A |
p.L788I |
Missense |
20/28 |
- |
1 |
7-55249064-C-T |
c.2362C>T |
p.L788F |
Missense |
20/28 |
- |
5 |
7-55249065-T-A |
c.2363T>A |
p.L788H |
Missense |
20/28 |
- |
1 |
7-55249065-TC-AA |
c.2363_2364delinsAA |
p.L788Q |
Missense |
20/28 |
- |
1 |
7-55249065-T-C |
c.2363T>C |
p.L788P |
Missense |
20/28 |
- |
1 |
7-55249066-C-G |
c.2364C>G |
p.L788= |
Synonymous |
20/28 |
- |
1 |
7-55249066-C-A |
c.2364C>A |
p.L788= |
Synonymous |
20/28 |
- |
1 |
7-55249066-C-T |
c.2364C>T |
p.L788= |
Synonymous |
20/28 |
- |
2 |
7-55249067-A-T |
c.2365A>T |
p.I789F |
Missense |
20/28 |
- |
1 |
7-55249069-C-G |
c.2367C>G |
p.I789M |
Missense |
20/28 |
- |
4 |
7-55249069-C-T |
c.2367C>T |
p.I789= |
Synonymous |
20/28 |
- |
1 |
7-55249070-AC-TG |
c.2368_2369delinsTG |
p.T790W |
Missense |
20/28 |
- |
1 |
7-55249070-AC-CT |
c.2368_2369delinsCT |
p.T790L |
Missense |
20/28 |
- |
1 |
7-55249070-A-G |
c.2368A>G |
p.T790A |
Missense |
20/28 |
- |
5 |
7-55249070-A-C |
c.2368A>C |
p.T790P |
Missense |
20/28 |
- |
1 |
7-55249070-A-T |
c.2368A>T |
p.T790S |
Missense |
20/28 |
- |
1 |
7-55249071-C-T |
c.2369C>T |
p.T790M |
Missense |
20/28 |
- |
7282 |
7-55249071-CG-TC |
c.2369_2370delinsTC |
p.T790I |
Missense |
20/28 |
- |
3 |
7-55249071-C-G |
c.2369C>G |
p.T790R |
Missense |
20/28 |
- |
1 |
7-55249072-G-A |
c.2370G>A |
p.T790= |
Synonymous |
20/28 |
- |
6 |
7-55249072-G-T |
c.2370G>T |
p.T790= |
Synonymous |
20/28 |
- |
4 |
7-55249072-G-C |
c.2370G>C |
p.T790= |
Synonymous |
20/28 |
- |
4 |
7-55249071-C-CGA |
c.2370_2371insAG |
p.Q791Sfs*36 |
Frameshift |
20/28 |
- |
1 |
7-55249073-C-T |
c.2371C>T |
p.Q791* |
Nonsense |
20/28 |
- |
1 |
7-55249074-A-T |
c.2372A>T |
p.Q791L |
Missense |
20/28 |
- |
2 |
7-55249074-A-G |
c.2372A>G |
p.Q791R |
Missense |
20/28 |
- |
4 |
7-55249074-A-C |
c.2372A>C |
p.Q791P |
Missense |
20/28 |
- |
2 |
7-55249075-G-T |
c.2373G>T |
p.Q791H |
Missense |
20/28 |
- |
5 |
7-55249075-G-C |
c.2373G>C |
p.Q791H |
Missense |
20/28 |
- |
4 |
7-55249075-AG-A |
c.2373del |
p.Q791Hfs*35 |
Frameshift |
20/28 |
- |
2 |
7-55249076-C-T |
c.2374C>T |
p.L792F |
Missense |
20/28 |
- |
64 |
7-55249076-CTC-TAA |
c.2374_2376delinsTAA |
p.L792* |
Nonsense |
20/28 |
- |
16 |
7-55249076-CT-TA |
c.2374_2375delinsTA |
p.L792Y |
Missense |
20/28 |
- |
3 |
7-55249076-C-G |
c.2374C>G |
p.L792V |
Missense |
20/28 |
- |
5 |
7-55249076-C-A |
c.2374C>A |
p.L792I |
Missense |
20/28 |
- |
1 |
7-55249076-GCTC-G |
c.2374_2376del |
p.L792del |
InFrameDeletion |
20/28 |
- |
1 |
7-55249077-T-A |
c.2375T>A |
p.L792H |
Missense |
20/28 |
- |
38 |
7-55249077-TC-AA |
c.2375_2376delinsAA |
p.L792Q |
Missense |
20/28 |
- |
6 |
7-55249077-T-C |
c.2375T>C |
p.L792P |
Missense |
20/28 |
- |
7 |
7-55249077-T-G |
c.2375T>G |
p.L792R |
Missense |
20/28 |
- |
2 |
7-55249079-A-C |
c.2377A>C |
p.M793L |
Missense |
20/28 |
- |
2 |
7-55249079-A-T |
c.2377A>T |
p.M793L |
Missense |
20/28 |
- |
2 |
7-55249080-T-A |
c.2378T>A |
p.M793K |
Missense |
20/28 |
- |
1 |
7-55249081-G-T |
c.2379G>T |
p.M793I |
Missense |
20/28 |
- |
3 |
7-55249081-G-C |
c.2379G>C |
p.M793I |
Missense |
20/28 |
- |
2 |
7-55249081-G-A |
c.2379G>A |
p.M793I |
Missense |
20/28 |
- |
2 |
7-55249082-C-T |
c.2380C>T |
p.P794S |
Missense |
20/28 |
- |
7 |
7-55249082-C-A |
c.2380C>A |
p.P794T |
Missense |
20/28 |
- |
1 |
7-55249083-C-T |
c.2381C>T |
p.P794L |
Missense |
20/28 |
- |
4 |
7-55249083-C-G |
c.2381C>G |
p.P794R |
Missense |
20/28 |
- |
1 |
7-55249083-C-A |
c.2381C>A |
p.P794H |
Missense |
20/28 |
- |
1 |
7-55249084-C-T |
c.2382C>T |
p.P794= |
Synonymous |
20/28 |
- |
1 |
7-55249085-T-G |
c.2383T>G |
p.F795V |
Missense |
20/28 |
- |
2 |
7-55249085-T-C |
c.2383T>C |
p.F795L |
Missense |
20/28 |
- |
1 |
7-55249087-C-A |
c.2385C>A |
p.F795L |
Missense |
20/28 |
- |
2 |
7-55249087-C-G |
c.2385C>G |
p.F795L |
Missense |
20/28 |
- |
1 |
7-55249086-T-C |
c.2384T>C |
p.F795S |
Missense |
20/28 |
- |
3 |
7-55249086-T-G |
c.2384T>G |
p.F795C |
Missense |
20/28 |
- |
2 |
7-55249087-C-T |
c.2385C>T |
p.F795= |
Synonymous |
20/28 |
- |
4 |
7-55249088-G-A |
c.2386G>A |
p.G796S |
Missense |
20/28 |
- |
73 |
7-55249088-GGC-TGA |
c.2386_2388delinsTGA |
p.G796* |
Nonsense |
20/28 |
- |
7 |
7-55249088-G-C |
c.2386G>C |
p.G796R |
Missense |
20/28 |
- |
31 |
7-55249088-G-T |
c.2386G>T |
p.G796C |
Missense |
20/28 |
- |
6 |
7-55249089-G-A |
c.2387G>A |
p.G796D |
Missense |
20/28 |
- |
48 |
7-55249089-G-C |
c.2387G>C |
p.G796A |
Missense |
20/28 |
- |
6 |
7-55249089-G-T |
c.2387G>T |
p.G796V |
Missense |
20/28 |
- |
3 |
7-55249090-C-A |
c.2388C>A |
p.G796= |
Synonymous |
20/28 |
- |
1 |
7-55249090-C-T |
c.2388C>T |
p.G796= |
Synonymous |
20/28 |
- |
1 |
7-55249091-T-G |
c.2389T>G |
p.C797G |
Missense |
20/28 |
- |
52 |
7-55249091-T-A |
c.2389T>A |
p.C797S |
Missense |
20/28 |
- |
829 |
7-55249092-G-C |
c.2390G>C |
p.C797S |
Missense |
20/28 |
- |
898 |
7-55249091-TG-AA |
c.2389_2390delinsAA |
p.C797N |
Missense |
20/28 |
- |
3 |
7-55249091-T-C |
c.2389T>C |
p.C797R |
Missense |
20/28 |
- |
2 |
7-55249091-TG-GC |
c.2389_2390delinsGC |
p.C797A |
Missense |
20/28 |
- |
4 |
7-55249092-G-A |
c.2390G>A |
p.C797Y |
Missense |
20/28 |
- |
4 |
7-55249092-GC-CT |
c.2390_2391delinsCT |
p.C797S |
Missense |
20/28 |
- |
1 |
7-55249093-C-A |
c.2391C>A |
p.C797* |
Nonsense |
20/28 |
- |
38 |
7-55249093-C-T |
c.2391C>T |
p.C797= |
Synonymous |
20/28 |
- |
2 |
7-55249094-C-A |
c.2392C>A |
p.L798I |
Missense |
20/28 |
- |
45 |
7-55249094-C-T |
c.2392C>T |
p.L798F |
Missense |
20/28 |
- |
2 |
7-55249094-C-G |
c.2392C>G |
p.L798V |
Missense |
20/28 |
- |
1 |
7-55249095-TC-AA |
c.2393_2394delinsAA |
p.L798Q |
Missense |
20/28 |
- |
2 |
7-55249095-T-C |
c.2393T>C |
p.L798P |
Missense |
20/28 |
- |
1 |
7-55249095-T-A |
c.2393T>A |
p.L798H |
Missense |
20/28 |
- |
3 |
7-55249097-C-A |
c.2395C>A |
p.L799M |
Missense |
20/28 |
- |
2 |
7-55249098-T-C |
c.2396T>C |
p.L799P |
Missense |
20/28 |
- |
2 |
7-55249098-T-A |
c.2396T>A |
p.L799Q |
Missense |
20/28 |
- |
1 |
7-55249097-C-CTAATCTG |
c.2396_2397insAATCTGT |
p.D800Ifs*99 |
Frameshift |
20/28 |
- |
1 |
7-55249099-G-C |
c.2397G>C |
p.L799= |
Synonymous |
20/28 |
- |
1 |
7-55249100-GA-CT |
c.2398_2399delinsCT |
p.D800L |
Missense |
20/28 |
- |
1 |
7-55249101-A-G |
c.2399A>G |
p.D800G |
Missense |
20/28 |
- |
4 |
7-55249102-C-T |
c.2400C>T |
p.D800= |
Synonymous |
20/28 |
- |
2 |
7-55249103-T-C |
c.2401T>C |
p.Y801H |
Missense |
20/28 |
- |
4 |
7-55249104-A-G |
c.2402A>G |
p.Y801C |
Missense |
20/28 |
- |
7 |
7-55249104-A-T |
c.2402A>T |
p.Y801F |
Missense |
20/28 |
- |
1 |
7-55249106-G-A |
c.2404G>A |
p.V802I |
Missense |
20/28 |
- |
7 |
7-55249106-G-T |
c.2404G>T |
p.V802F |
Missense |
20/28 |
- |
5 |
7-55249107-T-C |
c.2405T>C |
p.V802A |
Missense |
20/28 |
- |
3 |
7-55249107-GT-G |
c.2405del |
p.V802Afs*24 |
Frameshift |
20/28 |
- |
1 |
7-55249109-C-T |
c.2407C>T |
p.R803W |
Missense |
20/28 |
- |
6 |
7-55249110-G-A |
c.2408G>A |
p.R803Q |
Missense |
20/28 |
- |
3 |
7-55249110-G-C |
c.2408G>C |
p.R803P |
Missense |
20/28 |
- |
1 |
7-55249112-G-A |
c.2410G>A |
p.E804K |
Missense |
20/28 |
- |
5 |
7-55249113-A-G |
c.2411A>G |
p.E804G |
Missense |
20/28 |
- |
5 |
7-55249114-A-C |
c.2412A>C |
p.E804D |
Missense |
20/28 |
- |
1 |
7-55249114-A-T |
c.2412A>T |
p.E804D |
Missense |
20/28 |
- |
1 |
7-55249115-C-T |
c.2413C>T |
p.H805Y |
Missense |
20/28 |
- |
2 |
7-55249116-A-G |
c.2414A>G |
p.H805R |
Missense |
20/28 |
- |
1 |
7-55249116-A-T |
c.2414A>T |
p.H805L |
Missense |
20/28 |
- |
2 |
7-55249117-C-G |
c.2415C>G |
p.H805Q |
Missense |
20/28 |
- |
1 |
7-55249117-C-A |
c.2415C>A |
p.H805Q |
Missense |
20/28 |
- |
1 |
7-55249117-C-T |
c.2415C>T |
p.H805= |
Synonymous |
20/28 |
- |
1 |
7-55249118-A-G |
c.2416A>G |
p.K806E |
Missense |
20/28 |
- |
6 |
7-55249118-AA-GC |
c.2416_2417delinsGC |
p.K806A |
Missense |
20/28 |
- |
1 |
7-55249119-A-G |
c.2417A>G |
p.K806R |
Missense |
20/28 |
- |
2 |
7-55249119-A-T |
c.2417A>T |
p.K806I |
Missense |
20/28 |
- |
2 |
7-55249121-G-C |
c.2419G>C |
p.D807H |
Missense |
20/28 |
- |
1 |
7-55249121-G-A |
c.2419G>A |
p.D807N |
Missense |
20/28 |
- |
3 |
7-55249122-A-G |
c.2420A>G |
p.D807G |
Missense |
20/28 |
- |
1 |
7-55249122-A-C |
c.2420A>C |
p.D807A |
Missense |
20/28 |
- |
1 |
7-55249122-A-AAATCTGT |
c.2420_2421insAATCTGT |
p.D807Efs*92 |
Frameshift |
20/28 |
- |
1 |
7-55249123-C-T |
c.2421C>T |
p.D807= |
Synonymous |
20/28 |
- |
1 |
7-55249123-C-G |
c.2421C>G |
p.D807E |
Missense |
20/28 |
- |
3 |
7-55249123-C-A |
c.2421C>A |
p.D807E |
Missense |
20/28 |
- |
3 |
7-55249125-A-G |
c.2423A>G |
p.N808S |
Missense |
20/28 |
- |
3 |
7-55249130-G-A |
c.2428G>A |
p.G810S |
Missense |
20/28 |
- |
13 |
7-55249130-G-T |
c.2428G>T |
p.G810C |
Missense |
20/28 |
- |
1 |
7-55249131-G-A |
c.2429G>A |
p.G810D |
Missense |
20/28 |
- |
11 |
7-55249131-G-C |
c.2429G>C |
p.G810A |
Missense |
20/28 |
- |
1 |
7-55249132-C-T |
c.2430C>T |
p.G810= |
Synonymous |
20/28 |
- |
1 |
7-55249133-TCC-GAG |
c.2431_2433delinsGAG |
p.S811E |
Missense |
20/28 |
- |
1 |
7-55249133-TC-GA |
c.2431_2432inv |
p.S811D |
Missense |
20/28 |
- |
1 |
7-55249133-T-G |
c.2431T>G |
p.S811A |
Missense |
20/28 |
- |
1 |
7-55249134-C-T |
c.2432C>T |
p.S811F |
Missense |
20/28 |
- |
4 |
7-55249134-C-G |
c.2432C>G |
p.S811C |
Missense |
20/28 |
- |
4 |
7-55249136-C-T |
c.2434C>T |
p.Q812* |
Nonsense |
20/28 |
- |
1 |
7-55249137-A-G |
c.2435A>G |
p.Q812R |
Missense |
20/28 |
- |
4 |
7-55249138-G-A |
c.2436G>A |
p.Q812= |
Synonymous |
20/28 |
- |
1 |
7-55249139-T-C |
c.2437T>C |
p.Y813H |
Missense |
20/28 |
- |
1 |
7-55249140-A-G |
c.2438A>G |
p.Y813C |
Missense |
20/28 |
- |
3 |
7-55249140-A-T |
c.2438A>T |
p.Y813F |
Missense |
20/28 |
- |
1 |
7-55249142-C-A |
c.2440C>A |
p.L814M |
Missense |
20/28 |
- |
2 |
7-55249143-T-C |
c.2441T>C |
p.L814P |
Missense |
20/28 |
- |
4 |
7-55249144-G-A |
c.2442G>A |
p.L814= |
Synonymous |
20/28 |
- |
1 |
7-55249145-C-T |
c.2443C>T |
p.L815F |
Missense |
20/28 |
- |
2 |
7-55249146-T-C |
c.2444T>C |
p.L815P |
Missense |
20/28 |
- |
3 |
7-55249147-C-T |
c.2445C>T |
p.L815= |
Synonymous |
20/28 |
- |
1 |
7-55249147-C-G |
c.2445C>G |
p.L815= |
Synonymous |
20/28 |
- |
1 |
7-55249147-C-A |
c.2445C>A |
p.L815= |
Synonymous |
20/28 |
- |
1 |
7-55249148-A-G |
c.2446A>G |
p.N816D |
Missense |
20/28 |
- |
1 |
7-55249149-A-G |
c.2447A>G |
p.N816S |
Missense |
20/28 |
- |
1 |
7-55249152-G-A |
c.2450G>A |
p.W817* |
Nonsense |
20/28 |
- |
3 |
7-55249153-G-A |
c.2451G>A |
p.W817* |
Nonsense |
20/28 |
- |
3 |
7-55249154-T-C |
c.2452T>C |
p.C818R |
Missense |
20/28 |
- |
1 |
7-55249154-T-G |
c.2452T>G |
p.C818G |
Missense |
20/28 |
- |
1 |
7-55249154-T-A |
c.2452T>A |
p.C818S |
Missense |
20/28 |
- |
1 |
7-55249155-G-C |
c.2453G>C |
p.C818S |
Missense |
20/28 |
- |
1 |
7-55249155-G-T |
c.2453G>T |
p.C818F |
Missense |
20/28 |
- |
2 |
7-55249155-G-A |
c.2453G>A |
p.C818Y |
Missense |
20/28 |
- |
2 |
7-55249157-G-A |
c.2455G>A |
p.V819M |
Missense |
20/28 |
- |
1 |
7-55249158-T-C |
c.2456T>C |
p.V819A |
Missense |
20/28 |
- |
4 |
7-55249158-T-A |
c.2456T>A |
p.V819E |
Missense |
20/28 |
- |
1 |
7-55249159-G-A |
c.2457G>A |
p.V819= |
Synonymous |
20/28 |
- |
9 |
7-55249159-G-C |
c.2457G>C |
p.V819= |
Synonymous |
20/28 |
- |
4 |
7-55249159-G-T |
c.2457G>T |
p.V819= |
Synonymous |
20/28 |
- |
4 |
7-55249160-C-T |
c.2458C>T |
p.Q820* |
Nonsense |
20/28 |
- |
2 |
7-55249161-A-G |
c.2459A>G |
p.Q820R |
Missense |
20/28 |
- |
2 |
7-55249164-T-C |
c.2462T>C |
p.I821T |
Missense |
20/28 |
- |
2 |
7-55249166-G-A |
c.2464G>A |
p.A822T |
Missense |
20/28 |
- |
4 |
7-55249166-G-C |
c.2464G>C |
p.A822P |
Missense |
20/28 |
- |
3 |
7-55249168-A-C |
c.2466A>C |
p.A822= |
Synonymous |
20/28 |
- |
1 |
7-55249168-A-G |
c.2466A>G |
p.A822= |
Synonymous |
20/28 |
- |
1 |
7-55249168-A-T |
c.2466A>T |
p.A822= |
Synonymous |
20/28 |
- |
1 |
7-55249169-A-G |
c.2467A>G |
p.K823E |
Missense |
20/28 |
- |
2 |
7-55249170-A-G |
c.2468A>G |
p.K823R |
Missense |
20/28 |
- |
1 |
7-55250026-A-G |
c.2469+855A>G |
- |
IntronicSNV |
- |
20/27 |
2 |
7-55250091-G-A |
c.2469+920G>A |
- |
IntronicSNV |
- |
20/27 |
2 |
7-55250091-G-C |
c.2469+920G>C |
- |
IntronicSNV |
- |
20/27 |
2 |
7-55250130-G-A |
c.2469+959G>A |
- |
IntronicSNV |
- |
20/27 |
2 |
7-55258340-T-C |
c.2470-1072T>C |
- |
IntronicSNV |
- |
20/27 |
1 |
7-55259344-C-A |
c.2470-68C>A |
- |
IntronicSNV |
- |
20/27 |
1 |
7-55259412-G-A |
c.2470G>A |
p.G824S |
Missense |
21/28 |
- |
5 |
7-55259413-G-T |
c.2471G>T |
p.G824V |
Missense |
21/28 |
- |
2 |
7-55259413-G-A |
c.2471G>A |
p.G824D |
Missense |
21/28 |
- |
4 |
7-55259413-G-C |
c.2471G>C |
p.G824A |
Missense |
21/28 |
- |
1 |
7-55259415-A-T |
c.2473A>T |
p.M825L |
Missense |
21/28 |
- |
2 |
7-55259415-A-C |
c.2473A>C |
p.M825L |
Missense |
21/28 |
- |
2 |
7-55259415-A-G |
c.2473A>G |
p.M825V |
Missense |
21/28 |
- |
1 |
7-55259416-T-G |
c.2474T>G |
p.M825R |
Missense |
21/28 |
- |
1 |
7-55259416-T-C |
c.2474T>C |
p.M825T |
Missense |
21/28 |