1-196621197-G-C |
c.-51G>C |
- |
5-UTRSNV |
1/22 |
- |
1 |
1-196621248-A-G |
c.1A>G |
p.M1? |
Missense |
1/22 |
- |
1 |
1-196621248-A-T |
c.1A>T |
p.M1? |
Missense |
1/22 |
- |
1 |
1-196621249-T-A |
c.2T>A |
p.M1? |
Missense |
1/22 |
- |
1 |
1-196621250-G-A |
c.3G>A |
p.M1? |
Missense |
1/22 |
- |
2 |
1-196621250-G-C |
c.3G>C |
p.M1? |
Missense |
1/22 |
- |
1 |
1-196621250-G-T |
c.3G>T |
p.M1? |
Missense |
1/22 |
- |
1 |
1-196621252-G-C |
c.5G>C |
p.R2T |
Missense |
1/22 |
- |
4 |
1-196621252-G-T |
c.5G>T |
p.R2I |
Missense |
1/22 |
- |
1 |
1-196621251-A-C |
c.4A>C |
p.R2= |
Synonymous |
1/22 |
- |
33 |
1-196621253-A-G |
c.6A>G |
p.R2= |
Synonymous |
1/22 |
- |
33 |
1-196621254-C-G |
c.7C>G |
p.L3V |
Missense |
1/22 |
- |
9 |
1-196621254-C-T |
c.7C>T |
p.L3F |
Missense |
1/22 |
- |
5 |
1-196621257-C-A |
c.10C>A |
p.L4I |
Missense |
1/22 |
- |
1 |
1-196621257-CTA-TTT |
c.10_12delinsTTT |
p.L4F |
Missense |
1/22 |
- |
1 |
1-196621258-T-G |
c.11T>G |
p.L4R |
Missense |
1/22 |
- |
1 |
1-196621257-C-T |
c.10C>T |
p.L4= |
Synonymous |
1/22 |
- |
2 |
1-196621259-A-C |
c.12A>C |
p.L4= |
Synonymous |
1/22 |
- |
1 |
1-196621259-A-G |
c.12A>G |
p.L4= |
Synonymous |
1/22 |
- |
1 |
1-196621259-A-T |
c.12A>T |
p.L4= |
Synonymous |
1/22 |
- |
1 |
1-196621262-A-C |
c.15A>C |
p.A5= |
Synonymous |
1/22 |
- |
2 |
1-196621262-A-G |
c.15A>G |
p.A5= |
Synonymous |
1/22 |
- |
2 |
1-196621262-A-T |
c.15A>T |
p.A5= |
Synonymous |
1/22 |
- |
2 |
1-196621263-A-C |
c.16A>C |
p.K6Q |
Missense |
1/22 |
- |
1 |
1-196621264-A-G |
c.17A>G |
p.K6R |
Missense |
1/22 |
- |
1 |
1-196621265-G-A |
c.18G>A |
p.K6= |
Synonymous |
1/22 |
- |
2 |
1-196621265-G-C |
c.18G>C |
p.K6N |
Missense |
1/22 |
- |
1 |
1-196621267-T-C |
c.20T>C |
p.I7T |
Missense |
1/22 |
- |
4 |
1-196621271-T-A |
c.24T>A |
p.I8= |
Synonymous |
1/22 |
- |
2 |
1-196621271-T-C |
c.24T>C |
p.I8= |
Synonymous |
1/22 |
- |
2 |
1-196621274-C-G |
c.27C>G |
p.C9W |
Missense |
1/22 |
- |
1 |
1-196621276-T-C |
c.29T>C |
p.L10P |
Missense |
1/22 |
- |
1 |
1-196621276-T-G |
c.29T>G |
p.L10R |
Missense |
1/22 |
- |
1 |
1-196621278-AT-GC |
c.31_32delinsGC |
p.M11A |
Missense |
1/22 |
- |
1 |
1-196621279-T-C |
c.32T>C |
p.M11T |
Missense |
1/22 |
- |
1 |
1-196621279-TG-AC |
c.32_33delinsAC |
p.M11N |
Missense |
1/22 |
- |
1 |
1-196621280-G-T |
c.33G>T |
p.M11I |
Missense |
1/22 |
- |
1 |
1-196621281-T-C |
c.34T>C |
p.L12= |
Synonymous |
1/22 |
- |
1 |
1-196621283-A-G |
c.36A>G |
p.L12= |
Synonymous |
1/22 |
- |
2 |
1-196621286-G-C |
c.39G>C |
p.W13C |
Missense |
1/22 |
- |
1 |
1-196621286-G-T |
c.39G>T |
p.W13C |
Missense |
1/22 |
- |
1 |
1-196621287-G-A |
c.40G>A |
p.A14T |
Missense |
1/22 |
- |
1 |
1-196621287-GC-CG |
c.40_41delinsCG |
p.A14R |
Missense |
1/22 |
- |
1 |
1-196621287-GCT-AAG |
c.40_42delinsAAG |
p.A14K |
Missense |
1/22 |
- |
1 |
1-196621287-GCT-CAA |
c.40_42delinsCAA |
p.A14Q |
Missense |
1/22 |
- |
2 |
1-196621287-GC-TT |
c.40_41delinsTT |
p.A14F |
Missense |
1/22 |
- |
1 |
1-196621287-G-T |
c.40G>T |
p.A14S |
Missense |
1/22 |
- |
4 |
1-196621288-C-G |
c.41C>G |
p.A14G |
Missense |
1/22 |
- |
3 |
1-196621288-C-T |
c.41C>T |
p.A14V |
Missense |
1/22 |
- |
9 |
1-196621289-T-A |
c.42T>A |
p.A14= |
Synonymous |
1/22 |
- |
1 |
1-196621289-T-C |
c.42T>C |
p.A14= |
Synonymous |
1/22 |
- |
1 |
1-196621289-T-G |
c.42T>G |
p.A14= |
Synonymous |
1/22 |
- |
1 |
1-196621293-T-C |
c.46T>C |
p.C16R |
Missense |
1/22 |
- |
1 |
1-196621293-TG-GC |
c.46_47delinsGC |
p.C16A |
Missense |
1/22 |
- |
1 |
1-196621294-G-A |
c.47G>A |
p.C16Y |
Missense |
1/22 |
- |
2 |
1-196621294-G-C |
c.47G>C |
p.C16S |
Missense |
1/22 |
- |
1 |
1-196621294-G-T |
c.47G>T |
p.C16F |
Missense |
1/22 |
- |
1 |
1-196621295-T-A |
c.48T>A |
p.C16* |
Nonsense |
1/22 |
- |
1 |
1-196621296-G-A |
c.49G>A |
p.V17I |
Missense |
1/22 |
- |
1 |
1-196621299-G-C |
c.52G>C |
p.A18P |
Missense |
1/22 |
- |
2 |
1-196621299-GC-AA |
c.52_53delinsAA |
p.A18K |
Missense |
1/22 |
- |
1 |
1-196621299-GCA-AAC |
c.52_54delinsAAC |
p.A18N |
Missense |
1/22 |
- |
1 |
1-196621299-GC-CA |
c.52_53delinsCA |
p.A18Q |
Missense |
1/22 |
- |
1 |
1-196621299-G-T |
c.52G>T |
p.A18S |
Missense |
1/22 |
- |
2 |
1-196621299-G-GC |
c.53dup |
p.E19Rfs*5 |
Frameshift |
1/22 |
- |
1 |
1-196621300-C-T |
c.53C>T |
p.A18V |
Missense |
1/22 |
- |
4 |
1-196621304-A-G |
c.57A>G |
p.E19= |
Synonymous |
1/22 |
- |
1 |
1-196621305-G-A |
c.58G>A |
p.D20N |
Missense |
1/22 |
- |
4 |
1-196621306-G-A |
c.58+1G>A |
- |
IntronicSNV |
- |
1/21 |
1 |
1-196621330-T-C |
c.58+25T>C |
- |
IntronicSNV |
- |
1/21 |
1 |
1-196622088-ATAGG-A |
c.58+786_58+789del |
- |
IntronicDeletion |
- |
1/21 |
1 |
1-196623337-T-C |
c.58+2032T>C |
- |
IntronicSNV |
- |
1/21 |
3 |
1-196623589-G-C |
c.58+2284G>C |
- |
IntronicSNV |
- |
1/21 |
1 |
1-196623960-G-A |
c.58+2655G>A |
- |
IntronicSNV |
- |
1/21 |
1 |
1-196624646-A-C |
c.58+3341A>C |
- |
IntronicSNV |
- |
1/21 |
1 |
1-196625997-G-A |
c.58+4692G>A |
- |
IntronicSNV |
- |
1/21 |
1 |
1-196627353-TA-T |
c.58+6057del |
- |
IntronicDeletion |
- |
1/21 |
1 |
1-196628224-C-CA |
c.58+6926dup |
- |
IntronicInsertion |
- |
1/21 |
1 |
1-196629504-A-G |
c.58+8199A>G |
- |
IntronicSNV |
- |
1/21 |
1 |
1-196632115-T-TA |
c.59-9991dup |
- |
IntronicInsertion |
- |
1/21 |
1 |
1-196632470-A-G |
c.59-9638A>G |
- |
IntronicSNV |
- |
1/21 |
3 |
1-196635106-G-A |
c.59-7002G>A |
- |
IntronicSNV |
- |
1/21 |
12 |
1-196635470-G-T |
c.59-6638G>T |
- |
IntronicSNV |
- |
1/21 |
2 |
1-196642072-C-T |
c.59-36C>T |
- |
IntronicSNV |
- |
1/21 |
11 |
1-196642109-T-C |
c.60T>C |
p.D20= |
Synonymous |
2/22 |
- |
1 |
1-196642108-AT-A |
c.61del |
p.C21Afs*13 |
Frameshift |
2/22 |
- |
1 |
1-196642113-A-G |
c.64A>G |
p.N22D |
Missense |
2/22 |
- |
1 |
1-196642114-A-G |
c.65A>G |
p.N22S |
Missense |
2/22 |
- |
1 |
1-196642115-T-C |
c.66T>C |
p.N22= |
Synonymous |
2/22 |
- |
1 |
1-196642116-G-A |
c.67G>A |
p.E23K |
Missense |
2/22 |
- |
5 |
1-196642117-A-C |
c.68A>C |
p.E23A |
Missense |
2/22 |
- |
2 |
1-196642117-A-G |
c.68A>G |
p.E23G |
Missense |
2/22 |
- |
1 |
1-196642119-C-T |
c.70C>T |
p.L24F |
Missense |
2/22 |
- |
1 |
1-196642120-T-C |
c.71T>C |
p.L24P |
Missense |
2/22 |
- |
1 |
1-196642120-T-G |
c.71T>G |
p.L24R |
Missense |
2/22 |
- |
3 |
1-196642122-C-T |
c.73C>T |
p.P25S |
Missense |
2/22 |
- |
4 |
1-196642123-C-G |
c.74C>G |
p.P25R |
Missense |
2/22 |
- |
1 |
1-196642124-T-A |
c.75T>A |
p.P25= |
Synonymous |
2/22 |
- |
1 |
1-196642124-T-C |
c.75T>C |
p.P25= |
Synonymous |
2/22 |
- |
4 |
1-196642124-T-G |
c.75T>G |
p.P25= |
Synonymous |
2/22 |
- |
1 |
1-196642125-C-T |
c.76C>T |
p.P26S |
Missense |
2/22 |
- |
5 |
1-196642126-C-G |
c.77C>G |
p.P26R |
Missense |
2/22 |
- |
1 |
1-196642126-C-T |
c.77C>T |
p.P26L |
Missense |
2/22 |
- |
4 |
1-196642126-CAAGA-C |
c.79_82del |
p.R27Efs*6 |
Frameshift |
2/22 |
- |
1 |
1-196642128-AGA-TGG |
c.79_81delinsTGG |
p.R27W |
Missense |
2/22 |
- |
1 |
1-196642129-G-T |
c.80G>T |
p.R27I |
Missense |
2/22 |
- |
2 |
1-196642130-A-C |
c.81A>C |
p.R27S |
Missense |
2/22 |
- |
1 |
1-196642130-A-T |
c.81A>T |
p.R27S |
Missense |
2/22 |
- |
2 |
1-196642131-AG-CC |
c.82_83delinsCC |
p.R28P |
Missense |
2/22 |
- |
1 |
1-196642129-GAAGA-G |
c.83_86del |
p.R28Ifs*5 |
Frameshift |
2/22 |
- |
1 |
1-196642132-G-A |
c.83G>A |
p.R28K |
Missense |
2/22 |
- |
1 |
1-196642134-A-G |
c.85A>G |
p.N29D |
Missense |
2/22 |
- |
1 |
1-196642135-A-C |
c.86A>C |
p.N29T |
Missense |
2/22 |
- |
3 |
1-196642135-A-G |
c.86A>G |
p.N29S |
Missense |
2/22 |
- |
1 |
1-196642135-A-T |
c.86A>T |
p.N29I |
Missense |
2/22 |
- |
1 |
1-196642138-C-T |
c.89C>T |
p.T30I |
Missense |
2/22 |
- |
2 |
1-196642140-G-A |
c.91G>A |
p.E31K |
Missense |
2/22 |
- |
1 |
1-196642142-A-G |
c.93A>G |
p.E31= |
Synonymous |
2/22 |
- |
1 |
1-196642143-A-C |
c.94A>C |
p.I32L |
Missense |
2/22 |
- |
2 |
1-196642143-A-T |
c.94A>T |
p.I32F |
Missense |
2/22 |
- |
3 |
1-196642144-T-G |
c.95T>G |
p.I32S |
Missense |
2/22 |
- |
1 |
1-196642145-TTCTGACAGGTTCCTG-T |
c.96_110del |
p.I32_W37delinsM |
MultiAAMissense |
2/22 |
- |
1 |
1-196642146-CTG-ATC |
c.97_99delinsATC |
p.L33I |
Missense |
2/22 |
- |
1 |
1-196642147-T-C |
c.98T>C |
p.L33P |
Missense |
2/22 |
- |
3 |
1-196642147-T-G |
c.98T>G |
p.L33R |
Missense |
2/22 |
- |
3 |
1-196642146-C-T |
c.97C>T |
p.L33= |
Synonymous |
2/22 |
- |
3 |
1-196642148-G-A |
c.99G>A |
p.L33= |
Synonymous |
2/22 |
- |
3 |
1-196642148-G-C |
c.99G>C |
p.L33= |
Synonymous |
2/22 |
- |
3 |
1-196642148-G-T |
c.99G>T |
p.L33= |
Synonymous |
2/22 |
- |
3 |
1-196642149-A-G |
c.100A>G |
p.T34A |
Missense |
2/22 |
- |
1 |
1-196642150-C-G |
c.101C>G |
p.T34R |
Missense |
2/22 |
- |
2 |
1-196642152-G-A |
c.103G>A |
p.G35S |
Missense |
2/22 |
- |
5 |
1-196642153-G-A |
c.104G>A |
p.G35D |
Missense |
2/22 |
- |
6 |
1-196642155-T-G |
c.106T>G |
p.S36A |
Missense |
2/22 |
- |
1 |
1-196642156-C-A |
c.107C>A |
p.S36Y |
Missense |
2/22 |
- |
1 |
1-196642156-CC-GG |
c.107_108inv |
p.S36W |
Missense |
2/22 |
- |
1 |
1-196642156-C-T |
c.107C>T |
p.S36F |
Missense |
2/22 |
- |
1 |
1-196642158-T-C |
c.109T>C |
p.W37R |
Missense |
2/22 |
- |
2 |
1-196642161-TC-AT |
c.112_113delinsAT |
p.S38I |
Missense |
2/22 |
- |
1 |
1-196642162-C-T |
c.113C>T |
p.S38F |
Missense |
2/22 |
- |
1 |
1-196642164-G-A |
c.115G>A |
p.D39N |
Missense |
2/22 |
- |
1 |
1-196642164-G-C |
c.115G>C |
p.D39H |
Missense |
2/22 |
- |
1 |
1-196642167-C-T |
c.118C>T |
p.Q40* |
Nonsense |
2/22 |
- |
1 |
1-196642168-A-T |
c.119A>T |
p.Q40L |
Missense |
2/22 |
- |
4 |
1-196642171-C-T |
c.122C>T |
p.T41I |
Missense |
2/22 |
- |
4 |
1-196642173-AT-A |
c.124del |
p.Y42Ifs*21 |
Frameshift |
2/22 |
- |
1 |
1-196642173-T-G |
c.124T>G |
p.Y42D |
Missense |
2/22 |
- |
1 |
1-196642174-A-T |
c.125A>T |
p.Y42F |
Missense |
2/22 |
- |
3 |
1-196642175-T-A |
c.126T>A |
p.Y42* |
Nonsense |
2/22 |
- |
2 |
1-196642175-T-G |
c.126T>G |
p.Y42* |
Nonsense |
2/22 |
- |
2 |
1-196642176-C-A |
c.127C>A |
p.P43T |
Missense |
2/22 |
- |
1 |
1-196642176-C-T |
c.127C>T |
p.P43S |
Missense |
2/22 |
- |
1 |
1-196642177-C-G |
c.128C>G |
p.P43R |
Missense |
2/22 |
- |
1 |
1-196642177-C-T |
c.128C>T |
p.P43L |
Missense |
2/22 |
- |
6 |
1-196642179-G-A |
c.130G>A |
p.E44K |
Missense |
2/22 |
- |
1 |
1-196642179-G-T |
c.130G>T |
p.E44* |
Nonsense |
2/22 |
- |
1 |
1-196642180-A-C |
c.131A>C |
p.E44A |
Missense |
2/22 |
- |
1 |
1-196642183-G-A |
c.134G>A |
p.G45D |
Missense |
2/22 |
- |
2 |
1-196642185-AC-TG |
c.136_137delinsTG |
p.T46C |
Missense |
2/22 |
- |
1 |
1-196642185-A-G |
c.136A>G |
p.T46A |
Missense |
2/22 |
- |
2 |
1-196642190-G-A |
c.141G>A |
p.Q47= |
Synonymous |
2/22 |
- |
1 |
1-196642190-G-C |
c.141G>C |
p.Q47H |
Missense |
2/22 |
- |
1 |
1-196642190-G-T |
c.141G>T |
p.Q47H |
Missense |
2/22 |
- |
2 |
1-196642191-G-A |
c.142G>A |
p.A48T |
Missense |
2/22 |
- |
7 |
1-196642192-C-A |
c.143C>A |
p.A48D |
Missense |
2/22 |
- |
1 |
1-196642192-CT-AG |
c.143_144inv |
p.A48E |
Missense |
2/22 |
- |
1 |
1-196642194-A-G |
c.145A>G |
p.I49V |
Missense |
2/22 |
- |
4 |
1-196642195-T-A |
c.146T>A |
p.I49N |
Missense |
2/22 |
- |
1 |
1-196642195-T-G |
c.146T>G |
p.I49S |
Missense |
2/22 |
- |
1 |
1-196642196-C-T |
c.147C>T |
p.I49= |
Synonymous |
2/22 |
- |
2 |
1-196642202-A-G |
c.153A>G |
p.K51= |
Synonymous |
2/22 |
- |
1 |
1-196642203-T-C |
c.154T>C |
p.C52R |
Missense |
2/22 |
- |
2 |
1-196642203-TG-CA |
c.154_155inv |
p.C52H |
Missense |
2/22 |
- |
1 |
1-196642205-C-A |
c.156C>A |
p.C52* |
Nonsense |
2/22 |
- |
1 |
1-196642206-C-A |
c.157C>A |
p.R53S |
Missense |
2/22 |
- |
1 |
1-196642206-C-G |
c.157C>G |
p.R53G |
Missense |
2/22 |
- |
1 |
1-196642206-C-T |
c.157C>T |
p.R53C |
Missense |
2/22 |
- |
35 |
1-196642207-G-A |
c.158G>A |
p.R53H |
Missense |
2/22 |
- |
18 |
1-196642207-G-C |
c.158G>C |
p.R53P |
Missense |
2/22 |
- |
1 |
1-196642208-GCCCTGGA-G |
c.159_165del |
p.P54Ifs*7 |
Frameshift |
2/22 |
- |
1 |
1-196642209-C-T |
c.160C>T |
p.P54S |
Missense |
2/22 |
- |
1 |
1-196642210-C-A |
c.161C>A |
p.P54H |
Missense |
2/22 |
- |
3 |
1-196642210-C-T |
c.161C>T |
p.P54L |
Missense |
2/22 |
- |
6 |
1-196642212-G-A |
c.163G>A |
p.G55R |
Missense |
2/22 |
- |
1 |
1-196642212-G-C |
c.163G>C |
p.G55R |
Missense |
2/22 |
- |
1 |
1-196642213-G-A |
c.164G>A |
p.G55E |
Missense |
2/22 |
- |
2 |
1-196642213-G-T |
c.164G>T |
p.G55V |
Missense |
2/22 |
- |
2 |
1-196642217-ATAGATCTCTTGGAAATGTAATAATGGTATGCAGGAAGGGAGAATGGGTTGCTCTTAATC-A |
c.168_226del |
p.R57Ifs*29 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
2/22 |
- |
1 |
1-196642218-AGA-CAT |
c.169_171delinsCAT |
p.R57H |
Missense |
2/22 |
- |
1 |
1-196642219-G-A |
c.170G>A |
p.R57K |
Missense |
2/22 |
- |
2 |
1-196642219-G-C |
c.170G>C |
p.R57T |
Missense |
2/22 |
- |
1 |
1-196642220-A-G |
c.171A>G |
p.R57= |
Synonymous |
2/22 |
- |
3 |
1-196642221-T-G |
c.172T>G |
p.S58A |
Missense |
2/22 |
- |
7 |
1-196642222-C-A |
c.173C>A |
p.S58Y |
Missense |
2/22 |
- |
1 |
1-196642223-T-C |
c.174T>C |
p.S58= |
Synonymous |
2/22 |
- |
1 |
1-196642224-C-A |
c.175C>A |
p.L59I |
Missense |
2/22 |
- |
1 |
1-196642224-C-T |
c.175C>T |
p.L59F |
Missense |
2/22 |
- |
2 |
1-196642225-T-C |
c.176T>C |
p.L59P |
Missense |
2/22 |
- |
1 |
1-196642227-G-A |
c.178G>A |
p.G60R |
Missense |
2/22 |
- |
1 |
1-196642227-G-C |
c.178G>C |
p.G60R |
Missense |
2/22 |
- |
1 |
1-196642227-G-T |
c.178G>T |
p.G60* |
Nonsense |
2/22 |
- |
1 |
1-196642228-G-A |
c.179G>A |
p.G60E |
Missense |
2/22 |
- |
3 |
1-196642233-G-A |
c.184G>A |
p.V62I |
Missense |
2/22 |
- |
305 |
1-196642233-G-T |
c.184G>T |
p.V62L |
Missense |
2/22 |
- |
1 |
1-196642235-A-C |
c.186A>C |
p.V62= |
Synonymous |
2/22 |
- |
4 |
1-196642235-A-G |
c.186A>G |
p.V62= |
Synonymous |
2/22 |
- |
3 |
1-196642235-A-T |
c.186A>T |
p.V62= |
Synonymous |
2/22 |
- |
3 |
1-196642236-AT-TA |
c.187_188delinsTA |
p.I63* |
Nonsense |
2/22 |
- |
1 |
1-196642237-TA-AC |
c.188_189delinsAC |
p.I63N |
Missense |
2/22 |
- |
1 |
1-196642237-T-C |
c.188T>C |
p.I63T |
Missense |
2/22 |
- |
1 |
1-196642239-A-C |
c.190A>C |
p.M64L |
Missense |
2/22 |
- |
2 |
1-196642239-A-G |
c.190A>G |
p.M64V |
Missense |
2/22 |
- |
1 |
1-196642239-A-T |
c.190A>T |
p.M64L |
Missense |
2/22 |
- |
2 |
1-196642242-G-A |
c.193G>A |
p.V65I |
Missense |
2/22 |
- |
4 |
1-196642245-T-G |
c.196T>G |
p.C66G |
Missense |
2/22 |
- |
1 |
1-196642245-TG-CA |
c.196_197inv |
p.C66H |
Missense |
2/22 |
- |
4 |
1-196642248-AG-TA |
c.199_200delinsTA |
p.R67* |
Nonsense |
2/22 |
- |
1 |
1-196642249-G-A |
c.200G>A |
p.R67K |
Missense |
2/22 |
- |
1 |
1-196642254-G-A |
c.205G>A |
p.G69R |
Missense |
2/22 |
- |
2 |
1-196642254-G-C |
c.205G>C |
p.G69R |
Missense |
2/22 |
- |
1 |
1-196642254-G-T |
c.205G>T |
p.G69* |
Nonsense |
2/22 |
- |
3 |
1-196642255-G-A |
c.206G>A |
p.G69E |
Missense |
2/22 |
- |
7 |
1-196642255-G-C |
c.206G>C |
p.G69A |
Missense |
2/22 |
- |
1 |
1-196642255-G-T |
c.206G>T |
p.G69V |
Missense |
2/22 |
- |
3 |
1-196642257-GAA-TTT |
c.208_210delinsTTT |
p.E70F |
Missense |
2/22 |
- |
1 |
1-196642259-A-C |
c.210A>C |
p.E70D |
Missense |
2/22 |
- |
2 |
1-196642259-A-G |
c.210A>G |
p.E70= |
Synonymous |
2/22 |
- |
1 |
1-196642259-A-T |
c.210A>T |
p.E70D |
Missense |
2/22 |
- |
1 |
1-196642260-T-A |
c.211T>A |
p.W71R |
Missense |
2/22 |
- |
2 |
1-196642260-T-C |
c.211T>C |
p.W71R |
Missense |
2/22 |
- |
1 |
1-196642261-G-A |
c.212G>A |
p.W71* |
Nonsense |
2/22 |
- |
4 |
1-196642261-G-C |
c.212G>C |
p.W71S |
Missense |
2/22 |
- |
1 |
1-196642263-G-A |
c.214G>A |
p.V72I |
Missense |
2/22 |
- |
3 |
1-196642266-GC-TG |
c.217_218delinsTG |
p.A73C |
Missense |
2/22 |
- |
1 |
1-196642267-C-A |
c.218C>A |
p.A73D |
Missense |
2/22 |
- |
1 |
1-196642267-C-G |
c.218C>G |
p.A73G |
Missense |
2/22 |
- |
3 |
1-196642269-C-T |
c.220C>T |
p.L74F |
Missense |
2/22 |
- |
1 |
1-196642270-T-C |
c.221T>C |
p.L74P |
Missense |
2/22 |
- |
2 |
1-196642270-T-G |
c.221T>G |
p.L74R |
Missense |
2/22 |
- |
3 |
1-196642272-AA-GC |
c.223_224delinsGC |
p.N75A |
Missense |
2/22 |
- |
1 |
1-196642272-A-C |
c.223A>C |
p.N75H |
Missense |
2/22 |
- |
1 |
1-196642273-A-G |
c.224A>G |
p.N75S |
Missense |
2/22 |
- |
1 |
1-196642275-CC-TA |
c.226_227delinsTA |
p.P76* |
Nonsense |
2/22 |
- |
1 |
1-196642275-C-G |
c.226C>G |
p.P76A |
Missense |
2/22 |
- |
1 |
1-196642275-C-T |
c.226C>T |
p.P76S |
Missense |
2/22 |
- |
1 |
1-196642276-C-A |
c.227C>A |
p.P76Q |
Missense |
2/22 |
- |
1 |
1-196642278-TTA-ATG |
c.229_231delinsATG |
p.L77M |
Missense |
2/22 |
- |
1 |
1-196642279-T-A |
c.230T>A |
p.L77* |
Nonsense |
2/22 |
- |
1 |
1-196642279-T-C |
c.230T>C |
p.L77S |
Missense |
2/22 |
- |
2 |
1-196642279-T-G |
c.230T>G |
p.L77* |
Nonsense |
2/22 |
- |
1 |
1-196642281-A-G |
c.232A>G |
p.R78G |
Missense |
2/22 |
- |
15 |
1-196642281-AGG-TTT |
c.232_234delinsTTT |
p.R78F |
Missense |
2/22 |
- |
1 |
1-196642281-A-C |
c.232A>C |
p.R78= |
Synonymous |
2/22 |
- |
1 |
1-196642283-G-A |
c.234G>A |
p.R78= |
Synonymous |
2/22 |
- |
5 |
1-196642284-A-G |
c.235A>G |
p.K79E |
Missense |
2/22 |
- |
1 |
1-196642285-A-C |
c.236A>C |
p.K79T |
Missense |
2/22 |
- |
1 |
1-196642287-T-A |
c.238T>A |
p.C80S |
Missense |
2/22 |
- |
3 |
1-196642287-T-C |
c.238T>C |
p.C80R |
Missense |
2/22 |
- |
1 |
1-196642288-G-C |
c.239G>C |
p.C80S |
Missense |
2/22 |
- |
3 |
1-196642289-T-C |
c.240T>C |
p.C80= |
Synonymous |
2/22 |
- |
3 |
1-196642289-T-G |
c.240T>G |
p.C80W |
Missense |
2/22 |
- |
1 |
1-196642291-A-C |
c.242A>C |
p.Q81P |
Missense |
2/22 |
- |
6 |
1-196642292-G-A |
c.243G>A |
p.Q81= |
Synonymous |
2/22 |
- |
1 |
1-196642292-G-C |
c.243G>C |
p.Q81H |
Missense |
2/22 |
- |
6 |
1-196642292-G-T |
c.243G>T |
p.Q81H |
Missense |
2/22 |
- |
4 |
1-196642293-A-AAAAGGCCCTGTGGACATCCTGGAGATACTCCTTTTGGTACTTTTACCCTTACAGGAG |
c.244_244+1insAAAGGCCCTGTGGACATCCTGGAGATACTCCTTTTGGTACTTTTACCCTTACAGGAG |
p.G100_G101insERPCGHPGDTPFGTFTLTG |
SpliceDonorInsertion |
- |
- |
1 |
1-196642297-A-C |
c.244+4A>C |
- |
IntronicSNV |
- |
2/21 |
1 |
1-196642507-G-A |
c.244+214G>A |
- |
IntronicSNV |
- |
2/21 |
1 |
1-196642533-T-C |
c.244+240T>C |
- |
IntronicSNV |
- |
2/21 |
2 |
1-196642975-T-A |
c.245-12T>A |
- |
IntronicSNV |
- |
2/21 |
1 |
1-196642975-T-C |
c.245-12T>C |
- |
IntronicSNV |
- |
2/21 |
1 |
1-196642980-G-A |
c.245-7G>A |
- |
IntronicSNV |
- |
2/21 |
3 |
1-196642980-G-C |
c.245-7G>C |
- |
IntronicSNV |
- |
2/21 |
3 |
1-196642980-G-T |
c.245-7G>T |
- |
IntronicSNV |
- |
2/21 |
3 |
1-196642987-A-G |
c.245A>G |
p.K82R |
Missense |
3/22 |
- |
6 |
1-196642987-A-T |
c.245A>T |
p.K82I |
Missense |
3/22 |
- |
2 |
1-196642989-A-T |
c.247A>T |
p.R83W |
Missense |
3/22 |
- |
1 |
1-196642990-G-A |
c.248G>A |
p.R83K |
Missense |
3/22 |
- |
1 |
1-196642990-G-T |
c.248G>T |
p.R83M |
Missense |
3/22 |
- |
1 |
1-196642991-G-A |
c.249G>A |
p.R83= |
Synonymous |
3/22 |
- |
1 |
1-196642991-G-C |
c.249G>C |
p.R83S |
Missense |
3/22 |
- |
6 |
1-196642991-G-T |
c.249G>T |
p.R83S |
Missense |
3/22 |
- |
8 |
1-196642992-C-G |
c.250C>G |
p.P84A |
Missense |
3/22 |
- |
2 |
1-196642994-C-A |
c.252C>A |
p.P84= |
Synonymous |
3/22 |
- |
2 |
1-196642994-C-G |
c.252C>G |
p.P84= |
Synonymous |
3/22 |
- |
1 |
1-196642994-C-T |
c.252C>T |
p.P84= |
Synonymous |
3/22 |
- |
1 |
1-196642995-T-G |
c.253T>G |
p.C85G |
Missense |
3/22 |
- |
1 |
1-196642995-TG-AC |
c.253_254delinsAC |
p.C85T |
Missense |
3/22 |
- |
1 |
1-196642996-G-A |
c.254G>A |
p.C85Y |
Missense |
3/22 |
- |
1 |
1-196642998-G-T |
c.256G>T |
p.G86* |
Nonsense |
3/22 |
- |
1 |
1-196643001-C-G |
c.259C>G |
p.H87D |
Missense |
3/22 |
- |
2 |
1-196643004-C-A |
c.262C>A |
p.P88T |
Missense |
3/22 |
- |
3 |
1-196643004-C-T |
c.262C>T |
p.P88S |
Missense |
3/22 |
- |
1 |
1-196643008-G-C |
c.266G>C |
p.G89A |
Missense |
3/22 |
- |
3 |
1-196643010-G-A |
c.268G>A |
p.D90N |
Missense |
3/22 |
- |
1 |
1-196643010-GA-TT |
c.268_269delinsTT |
p.D90F |
Missense |
3/22 |
- |
1 |
1-196643010-G-T |
c.268G>T |
p.D90Y |
Missense |
3/22 |
- |
1 |
1-196643011-A-G |
c.269A>G |
p.D90G |
Missense |
3/22 |
- |
18 |
1-196643012-T-A |
c.270T>A |
p.D90E |
Missense |
3/22 |
- |
2 |
1-196643012-T-G |
c.270T>G |
p.D90E |
Missense |
3/22 |
- |
1 |
1-196643012-T-TA |
c.271dup |
p.T91Nfs*15 |
Frameshift |
3/22 |
- |
1 |
1-196643013-A-T |
c.271A>T |
p.T91S |
Missense |
3/22 |
- |
1 |
1-196643014-C-A |
c.272C>A |
p.T91N |
Missense |
3/22 |
- |
7 |
1-196643014-C-G |
c.272C>G |
p.T91S |
Missense |
3/22 |
- |
3 |
1-196643014-C-T |
c.272C>T |
p.T91I |
Missense |
3/22 |
- |
3 |
1-196643015-T-C |
c.273T>C |
p.T91= |
Synonymous |
3/22 |
- |
1 |
1-196643016-C-T |
c.274C>T |
p.P92S |
Missense |
3/22 |
- |
4 |
1-196643017-C-G |
c.275C>G |
p.P92R |
Missense |
3/22 |
- |
1 |
1-196643017-C-T |
c.275C>T |
p.P92L |
Missense |
3/22 |
- |
1 |
1-196643018-T-A |
c.276T>A |
p.P92= |
Synonymous |
3/22 |
- |
1 |
1-196643018-T-C |
c.276T>C |
p.P92= |
Synonymous |
3/22 |
- |
1 |
1-196643018-T-G |
c.276T>G |
p.P92= |
Synonymous |
3/22 |
- |
1 |
1-196643023-G-C |
c.281G>C |
p.G94A |
Missense |
3/22 |
- |
1 |
1-196643023-G-GT |
c.282dup |
p.T95Yfs*11 |
Frameshift |
3/22 |
- |
1 |
1-196643025-A-G |
c.283A>G |
p.T95A |
Missense |
3/22 |
- |
1 |
1-196643026-C-T |
c.284C>T |
p.T95I |
Missense |
3/22 |
- |
1 |
1-196643027-T-A |
c.285T>A |
p.T95= |
Synonymous |
3/22 |
- |
1 |
1-196643027-T-C |
c.285T>C |
p.T95= |
Synonymous |
3/22 |
- |
1 |
1-196643027-T-G |
c.285T>G |
p.T95= |
Synonymous |
3/22 |
- |
1 |
1-196643028-T-A |
c.286T>A |
p.F96I |
Missense |
3/22 |
- |
1 |
1-196643028-T-C |
c.286T>C |
p.F96L |
Missense |
3/22 |
- |
2 |
1-196643030-T-A |
c.288T>A |
p.F96L |
Missense |
3/22 |
- |
1 |
1-196643030-T-G |
c.288T>G |
p.F96L |
Missense |
3/22 |
- |
1 |
1-196643033-C-A |
c.291C>A |
p.T97= |
Synonymous |
3/22 |
- |
2 |
1-196643034-C-T |
c.292C>T |
p.L98F |
Missense |
3/22 |
- |
1 |
1-196643037-AC-TA |
c.295_296delinsTA |
p.T99* |
Nonsense |
3/22 |
- |
1 |
1-196643037-A-G |
c.295A>G |
p.T99A |
Missense |
3/22 |
- |
2 |
1-196643040-G-A |
c.298G>A |
p.G100R |
Missense |
3/22 |
- |
2 |
1-196643040-G-C |
c.298G>C |
p.G100R |
Missense |
3/22 |
- |
1 |
1-196643041-G-A |
c.299G>A |
p.G100E |
Missense |
3/22 |
- |
1 |
1-196643043-G-A |
c.301G>A |
p.G101R |
Missense |
3/22 |
- |
3 |
1-196643043-G-C |
c.301G>C |
p.G101R |
Missense |
3/22 |
- |
3 |
1-196643044-G-A |
c.302G>A |
p.G101E |
Missense |
3/22 |
- |
13 |
1-196643049-G-A |
c.307G>A |
p.V103M |
Missense |
3/22 |
- |
1 |
1-196643050-GT-G |
c.308del |
p.V103Gfs*6 |
Frameshift |
3/22 |
- |
1 |
1-196643056-A-C |
c.314A>C |
p.E105A |
Missense |
3/22 |
- |
2 |
1-196643056-A-T |
c.314A>T |
p.E105V |
Missense |
3/22 |
- |
2 |
1-196643057-A-T |
c.315A>T |
p.E105D |
Missense |
3/22 |
- |
1 |
1-196643061-G-A |
c.319G>A |
p.G107S |
Missense |
3/22 |
- |
1 |
1-196643061-G-C |
c.319G>C |
p.G107R |
Missense |
3/22 |
- |
1 |
1-196643062-G-T |
c.320G>T |
p.G107V |
Missense |
3/22 |
- |
1 |
1-196643063-T-A |
c.321T>A |
p.G107= |
Synonymous |
3/22 |
- |
2 |
1-196643063-T-C |
c.321T>C |
p.G107= |
Synonymous |
3/22 |
- |
4 |
1-196643063-T-G |
c.321T>G |
p.G107= |
Synonymous |
3/22 |
- |
2 |
1-196643064-G-A |
c.322G>A |
p.V108I |
Missense |
3/22 |
- |
3 |
1-196643064-GTA-TGT |
c.322_324delinsTGT |
p.V108C |
Missense |
3/22 |
- |
1 |
1-196643067-A-G |
c.325A>G |
p.K109E |
Missense |
3/22 |
- |
3 |
1-196643070-G-T |
c.328G>T |
p.A110S |
Missense |
3/22 |
- |
2 |
1-196643071-C-A |
c.329C>A |
p.A110D |
Missense |
3/22 |
- |
2 |
1-196643073-GTG-TGT |
c.331_333delinsTGT |
p.V111C |
Missense |
3/22 |
- |
1 |
1-196643074-T-A |
c.332T>A |
p.V111E |
Missense |
3/22 |
- |
2 |
1-196643074-T-G |
c.332T>G |
p.V111G |
Missense |
3/22 |
- |
1 |
1-196643076-T-C |
c.334T>C |
p.Y112H |
Missense |
3/22 |
- |
2 |
1-196643077-A-G |
c.335A>G |
p.Y112C |
Missense |
3/22 |
- |
1 |
1-196643079-A-T |
c.337A>T |
p.T113S |
Missense |
3/22 |
- |
1 |
1-196643080-C-T |
c.338C>T |
p.T113I |
Missense |
3/22 |
- |
2 |
1-196643083-G-A |
c.341G>A |
p.C114Y |
Missense |
3/22 |
- |
2 |
1-196643084-T-C |
c.342T>C |
p.C114= |
Synonymous |
3/22 |
- |
1 |
1-196643085-A-G |
c.343A>G |
p.N115D |
Missense |
3/22 |
- |
1 |
1-196643085-A-T |
c.343A>T |
p.N115Y |
Missense |
3/22 |
- |
6 |
1-196643086-A-G |
c.344A>G |
p.N115S |
Missense |
3/22 |
- |
1 |
1-196643088-G-A |
c.346G>A |
p.E116K |
Missense |
3/22 |
- |
2 |
1-196643090-G-A |
c.348G>A |
p.E116= |
Synonymous |
3/22 |
- |
1 |
1-196643091-G-A |
c.349G>A |
p.G117R |
Missense |
3/22 |
- |
8 |
1-196643091-G-C |
c.349G>C |
p.G117R |
Missense |
3/22 |
- |
1 |
1-196643091-GG-TA |
c.349_350delinsTA |
p.G117* |
Nonsense |
3/22 |
- |
1 |
1-196643092-G-A |
c.350G>A |
p.G117E |
Missense |
3/22 |
- |
2 |
1-196643092-G-GA |
c.350_350+1insA |
p.Y118Vfs*6 |
SpliceDonorInsertion |
- |
- |
1 |
1-196643092-G-T |
c.350G>T |
p.G117V |
Missense |
3/22 |
- |
1 |
1-196643093-G-T |
c.350+1G>T |
- |
IntronicSNV |
- |
3/21 |
1 |
1-196643098-T-G |
c.350+6T>G |
- |
IntronicSNV |
- |
3/21 |
4 |
1-196643101-T-C |
c.350+9T>C |
- |
IntronicSNV |
- |
3/21 |
1 |
1-196643272-C-T |
c.350+180C>T |
- |
IntronicSNV |
- |
3/21 |
1 |
1-196643762-C-T |
c.350+670C>T |
- |
IntronicSNV |
- |
3/21 |
1 |
1-196644921-G-C |
c.351-198G>C |
- |
IntronicSNV |
- |
3/21 |
1 |
1-196644921-G-T |
c.351-198G>T |
- |
IntronicSNV |
- |
3/21 |
1 |
1-196645119-G-A |
c.351G>A |
p.G117= |
Synonymous |
4/22 |
- |
1 |
1-196645120-TA-GC |
c.352_353delinsGC |
p.Y118A |
Missense |
4/22 |
- |
1 |
1-196645120-T-C |
c.352T>C |
p.Y118H |
Missense |
4/22 |
- |
1 |
1-196645122-T-A |
c.354T>A |
p.Y118* |
Nonsense |
4/22 |
- |
2 |
1-196645122-T-C |
c.354T>C |
p.Y118= |
Synonymous |
4/22 |
- |
1 |
1-196645122-T-G |
c.354T>G |
p.Y118* |
Nonsense |
4/22 |
- |
3 |
1-196645123-C-G |
c.355C>G |
p.Q119E |
Missense |
4/22 |
- |
1 |
1-196645123-C-T |
c.355C>T |
p.Q119* |
Nonsense |
4/22 |
- |
2 |
1-196645129-C-T |
c.361C>T |
p.L121= |
Synonymous |
4/22 |
- |
5 |
1-196645133-G-A |
c.365G>A |
p.G122D |
Missense |
4/22 |
- |
1 |
1-196645136-A-C |
c.368A>C |
p.E123A |
Missense |
4/22 |
- |
1 |
1-196645136-A-G |
c.368A>G |
p.E123G |
Missense |
4/22 |
- |
1 |
1-196645138-A-G |
c.370A>G |
p.I124V |
Missense |
4/22 |
- |
2 |
1-196645141-TAATTACCGTGAATGTGACACAGATGGATGGACCAATGATATTCCTATATGTGAAGGTAG-T |
c.374_427+5del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
4/22 |
4/21 |
3 |
1-196645143-T-C |
c.375T>C |
p.N125= |
Synonymous |
4/22 |
- |
3 |
1-196645145-A-T |
c.377A>T |
p.Y126F |
Missense |
4/22 |
- |
2 |
1-196645147-C-T |
c.379C>T |
p.R127C |
Missense |
4/22 |
- |
4 |
1-196645148-G-A |
c.380G>A |
p.R127H |
Missense |
4/22 |
- |
10 |
1-196645148-G-T |
c.380G>T |
p.R127L |
Missense |
4/22 |
- |
8 |
1-196645149-T-C |
c.381T>C |
p.R127= |
Synonymous |
4/22 |
- |
1 |
1-196645151-A-C |
c.383A>C |
p.E128A |
Missense |
4/22 |
- |
1 |
1-196645153-T-A |
c.385T>A |
p.C129S |
Missense |
4/22 |
- |
2 |
1-196645153-T-C |
c.385T>C |
p.C129R |
Missense |
4/22 |
- |
1 |
1-196645154-G-C |
c.386G>C |
p.C129S |
Missense |
4/22 |
- |
1 |
1-196645154-G-A |
c.386G>A |
p.C129Y |
Missense |
4/22 |
- |
2 |
1-196645154-G-T |
c.386G>T |
p.C129F |
Missense |
4/22 |
- |
1 |
1-196645155-T-G |
c.387T>G |
p.C129W |
Missense |
4/22 |
- |
1 |
1-196645156-G-A |
c.388G>A |
p.D130N |
Missense |
4/22 |
- |
13 |
1-196645156-G-C |
c.388G>C |
p.D130H |
Missense |
4/22 |
- |
1 |
1-196645157-A-G |
c.389A>G |
p.D130G |
Missense |
4/22 |
- |
1 |
1-196645159-A-C |
c.391A>C |
p.T131P |
Missense |
4/22 |
- |
1 |
1-196645160-ACAG-A |
c.392_394del |
p.T131_D132delinsN |
MultiAAMissense |
4/22 |
- |
1 |
1-196645160-C-A |
c.392C>A |
p.T131K |
Missense |
4/22 |
- |
1 |
1-196645162-G-A |
c.394G>A |
p.D132N |
Missense |
4/22 |
- |
1 |
1-196645162-G-C |
c.394G>C |
p.D132H |
Missense |
4/22 |
- |
1 |
1-196645162-G-T |
c.394G>T |
p.D132Y |
Missense |
4/22 |
- |
1 |
1-196645161-AGAT-A |
c.395_397del |
p.D132del |
InFrameDeletion |
4/22 |
- |
1 |
1-196645165-G-A |
c.397G>A |
p.G133R |
Missense |
4/22 |
- |
6 |
1-196645165-G-C |
c.397G>C |
p.G133R |
Missense |
4/22 |
- |
2 |
1-196645166-G-A |
c.398G>A |
p.G133E |
Missense |
4/22 |
- |
1 |
1-196645166-G-T |
c.398G>T |
p.G133V |
Missense |
4/22 |
- |
1 |
1-196645168-T-A |
c.400T>A |
p.W134R |
Missense |
4/22 |
- |
3 |
1-196645168-T-C |
c.400T>C |
p.W134R |
Missense |
4/22 |
- |
4 |
1-196645169-G-A |
c.401G>A |
p.W134* |
Nonsense |
4/22 |
- |
8 |
1-196645170-G-A |
c.402G>A |
p.W134* |
Nonsense |
4/22 |
- |
4 |
1-196645170-G-C |
c.402G>C |
p.W134C |
Missense |
4/22 |
- |
1 |
1-196645170-G-T |
c.402G>T |
p.W134C |
Missense |
4/22 |
- |
1 |
1-196645172-C-G |
c.404C>G |
p.T135S |
Missense |
4/22 |
- |
1 |
1-196645172-C-T |
c.404C>T |
p.T135I |
Missense |
4/22 |
- |
2 |
1-196645177-G-A |
c.409G>A |
p.D137N |
Missense |
4/22 |
- |
7 |
1-196645177-GA-AC |
c.409_410delinsAC |
p.D137T |
Missense |
4/22 |
- |
1 |
1-196645179-T-A |
c.411T>A |
p.D137E |
Missense |
4/22 |
- |
1 |
1-196645179-T-G |
c.411T>G |
p.D137E |
Missense |
4/22 |
- |
1 |
1-196645180-A-G |
c.412A>G |
p.I138V |
Missense |
4/22 |
- |
1 |
1-196645181-T-C |
c.413T>C |
p.I138T |
Missense |
4/22 |
- |
1 |
1-196645182-T-A |
c.414T>A |
p.I138= |
Synonymous |
4/22 |
- |
1 |
1-196645182-T-C |
c.414T>C |
p.I138= |
Synonymous |
4/22 |
- |
1 |
1-196645183-C-G |
c.415C>G |
p.P139A |
Missense |
4/22 |
- |
1 |
1-196645183-C-T |
c.415C>T |
p.P139S |
Missense |
4/22 |
- |
10 |
1-196645184-C-A |
c.416C>A |
p.P139H |
Missense |
4/22 |
- |
1 |
1-196645184-C-T |
c.416C>T |
p.P139L |
Missense |
4/22 |
- |
4 |
1-196645186-A-C |
c.418A>C |
p.I140L |
Missense |
4/22 |
- |
1 |
1-196645186-A-T |
c.418A>T |
p.I140L |
Missense |
4/22 |
- |
1 |
1-196645186-ATA-TTT |
c.418_420delinsTTT |
p.I140F |
Missense |
4/22 |
- |
1 |
1-196645188-A-G |
c.420A>G |
p.I140M |
Missense |
4/22 |
- |
2 |
1-196645189-TG-GC |
c.421_422delinsGC |
p.C141A |
Missense |
4/22 |
- |
1 |
1-196645192-G-A |
c.424G>A |
p.E142K |
Missense |
4/22 |
- |
1 |
1-196645192-G-C |
c.424G>C |
p.E142Q |
Missense |
4/22 |
- |
2 |
1-196645195-G-A |
c.427G>A |
p.V143I |
Missense |
4/22 |
- |
3 |
1-196645195-G-T |
c.427G>T |
p.V143F |
Missense |
4/22 |
- |
1 |
1-196645196-G-A |
c.427+1G>A |
- |
IntronicSNV |
- |
4/21 |
1 |
1-196645942-CA-C |
c.428-664del |
- |
IntronicDeletion |
- |
4/21 |
1 |
1-196646176-T-G |
c.428-430T>G |
- |
IntronicSNV |
- |
4/21 |
13 |
1-196646261-A-G |
c.428-345A>G |
- |
IntronicSNV |
- |
4/21 |
12 |
1-196646261-A-T |
c.428-345A>T |
- |
IntronicSNV |
- |
4/21 |
12 |
1-196646387-T-C |
c.428-219T>C |
- |
IntronicSNV |
- |
4/21 |
8 |
1-196646606-T-A |
c.428T>A |
p.V143D |
Missense |
5/22 |
- |
1 |
1-196646607-T-C |
c.429T>C |
p.V143= |
Synonymous |
5/22 |
- |
1 |
1-196646608-G-A |
c.430G>A |
p.V144M |
Missense |
5/22 |
- |
1 |
1-196646608-G-C |
c.430G>C |
p.V144L |
Missense |
5/22 |
- |
1 |
1-196646616-T-C |
c.438T>C |
p.C146= |
Synonymous |
5/22 |
- |
4 |
1-196646618-TTA-T |
c.440_441del |
p.L147Sfs*13 |
Frameshift |
5/22 |
- |
1 |
1-196646622-A-C |
c.444A>C |
p.P148= |
Synonymous |
5/22 |
- |
1 |
1-196646623-AG-A |
c.445del |
p.V149* |
Frameshift |
5/22 |
- |
1 |
1-196646623-G-A |
c.445G>A |
p.V149M |
Missense |
5/22 |
- |
4 |
1-196646623-G-C |
c.445G>C |
p.V149L |
Missense |
5/22 |
- |
1 |
1-196646623-G-T |
c.445G>T |
p.V149L |
Missense |
5/22 |
- |
1 |
1-196646622-AGT-A |
c.446_447del |
p.V149Dfs*11 |
Frameshift |
5/22 |
- |
1 |
1-196646624-T-C |
c.446T>C |
p.V149A |
Missense |
5/22 |
- |
1 |
1-196646629-G-A |
c.451G>A |
p.A151T |
Missense |
5/22 |
- |
3 |
1-196646629-G-C |
c.451G>C |
p.A151P |
Missense |
5/22 |
- |
1 |
1-196646630-C-T |
c.452C>T |
p.A151V |
Missense |
5/22 |
- |
1 |
1-196646632-C-A |
c.454C>A |
p.P152T |
Missense |
5/22 |
- |
4 |
1-196646633-C-T |
c.455C>T |
p.P152L |
Missense |
5/22 |
- |
1 |
1-196646634-A-C |
c.456A>C |
p.P152= |
Synonymous |
5/22 |
- |
1 |
1-196646634-A-G |
c.456A>G |
p.P152= |
Synonymous |
5/22 |
- |
1 |
1-196646634-A-T |
c.456A>T |
p.P152= |
Synonymous |
5/22 |
- |
1 |
1-196646635-G-A |
c.457G>A |
p.E153K |
Missense |
5/22 |
- |
3 |
1-196646636-A-T |
c.458A>T |
p.E153V |
Missense |
5/22 |
- |
1 |
1-196646637-G-A |
c.459G>A |
p.E153= |
Synonymous |
5/22 |
- |
3 |
1-196646639-A-T |
c.461A>T |
p.N154I |
Missense |
5/22 |
- |
1 |
1-196646640-T-C |
c.462T>C |
p.N154= |
Synonymous |
5/22 |
- |
1 |
1-196646641-G-A |
c.463G>A |
p.G155R |
Missense |
5/22 |
- |
1 |
1-196646641-G-C |
c.463G>C |
p.G155R |
Missense |
5/22 |
- |
1 |
1-196646642-G-A |
c.464G>A |
p.G155E |
Missense |
5/22 |
- |
2 |
1-196646642-G-T |
c.464G>T |
p.G155V |
Missense |
5/22 |
- |
1 |
1-196646645-A-T |
c.467A>T |
p.K156I |
Missense |
5/22 |
- |
3 |
1-196646642-G-GA |
c.469dup |
p.I157Nfs*4 |
Frameshift |
5/22 |
- |
3 |
1-196646648-T-A |
c.470T>A |
p.I157N |
Missense |
5/22 |
- |
1 |
1-196646648-T-G |
c.470T>G |
p.I157S |
Missense |
5/22 |
- |
7 |
1-196646649-T-G |
c.471T>G |
p.I157M |
Missense |
5/22 |
- |
1 |
1-196646650-G-A |
c.472G>A |
p.V158I |
Missense |
5/22 |
- |
6 |
1-196646650-G-T |
c.472G>T |
p.V158F |
Missense |
5/22 |
- |
2 |
1-196646653-A-G |
c.475A>G |
p.S159G |
Missense |
5/22 |
- |
1 |
1-196646653-AG-TA |
c.475_476delinsTA |
p.S159Y |
Missense |
5/22 |
- |
1 |
1-196646654-G-A |
c.476G>A |
p.S159N |
Missense |
5/22 |
- |
3 |
1-196646655-T-C |
c.477T>C |
p.S159= |
Synonymous |
5/22 |
- |
8 |
1-196646656-AG-CT |
c.478_479inv |
p.S160L |
Missense |
5/22 |
- |
1 |
1-196646657-G-GA |
c.479_480insA |
p.S160Rfs*20 |
Frameshift |
5/22 |
- |
1 |
1-196646659-G-A |
c.481G>A |
p.A161T |
Missense |
5/22 |
- |
4 |
1-196646659-G-T |
c.481G>T |
p.A161S |
Missense |
5/22 |
- |
10 |
1-196646662-A-G |
c.484A>G |
p.M162V |
Missense |
5/22 |
- |
5 |
1-196646662-AT-TG |
c.484_485delinsTG |
p.M162W |
Missense |
5/22 |
- |
1 |
1-196646663-T-A |
c.485T>A |
p.M162K |
Missense |
5/22 |
- |
1 |
1-196646664-G-GA |
c.486_487insA |
p.E163Rfs*17 |
Frameshift |
5/22 |
- |
1 |
1-196646664-G-GAA |
c.486_487insAA |
p.E163Kfs*55 |
Frameshift |
5/22 |
- |
1 |
1-196646668-C-T |
c.490C>T |
p.P164S |
Missense |
5/22 |
- |
1 |
1-196646671-G-A |
c.493G>A |
p.D165N |
Missense |
5/22 |
- |
3 |
1-196646671-G-T |
c.493G>T |
p.D165Y |
Missense |
5/22 |
- |
1 |
1-196646674-CGG-TGT |
c.496_498delinsTGT |
p.R166C |
Missense |
5/22 |
- |
1 |
1-196646674-C-T |
c.496C>T |
p.R166W |
Missense |
5/22 |
- |
14 |
1-196646675-G-A |
c.497G>A |
p.R166Q |
Missense |
5/22 |
- |
2 |
1-196646675-G-T |
c.497G>T |
p.R166L |
Missense |
5/22 |
- |
6 |
1-196646676-G-A |
c.498G>A |
p.R166= |
Synonymous |
5/22 |
- |
2 |
1-196646677-G-C |
c.499G>C |
p.E167Q |
Missense |
5/22 |
- |
14 |
1-196646677-G-T |
c.499G>T |
p.E167* |
Nonsense |
5/22 |
- |
2 |
1-196646679-A-C |
c.501A>C |
p.E167D |
Missense |
5/22 |
- |
2 |
1-196646679-A-T |
c.501A>T |
p.E167D |
Missense |
5/22 |
- |
2 |
1-196646680-T-C |
c.502T>C |
p.Y168H |
Missense |
5/22 |
- |
1 |
1-196646681-A-C |
c.503A>C |
p.Y168S |
Missense |
5/22 |
- |
1 |
1-196646682-C-A |
c.504C>A |
p.Y168* |
Nonsense |
5/22 |
- |
3 |
1-196646682-C-G |
c.504C>G |
p.Y168* |
Nonsense |
5/22 |
- |
2 |
1-196646682-C-T |
c.504C>T |
p.Y168= |
Synonymous |
5/22 |
- |
2 |
1-196646683-C-T |
c.505C>T |
p.H169Y |
Missense |
5/22 |
- |
2 |
1-196646684-A-G |
c.506A>G |
p.H169R |
Missense |
5/22 |
- |
3 |
1-196646684-ATTT-A |
c.508_510del |
p.F170del |
InFrameDeletion |
5/22 |
- |
1 |
1-196646687-T-A |
c.509T>A |
p.F170Y |
Missense |
5/22 |
- |
2 |
1-196646690-G-A |
c.512G>A |
p.G171E |
Missense |
5/22 |
- |
1 |
1-196646690-G-C |
c.512G>C |
p.G171A |
Missense |
5/22 |
- |
1 |
1-196646692-C-T |
c.514C>T |
p.Q172* |
Nonsense |
5/22 |
- |
1 |
1-196646695-G-T |
c.517G>T |
p.A173S |
Missense |
5/22 |
- |
1 |
1-196646696-C-G |
c.518C>G |
p.A173G |
Missense |
5/22 |
- |
5 |
1-196646698-G-T |
c.520G>T |
p.V174L |
Missense |
5/22 |
- |
1 |
1-196646701-C-G |
c.523C>G |
p.R175G |
Missense |
5/22 |
- |
2 |
1-196646701-C-T |
c.523C>T |
p.R175W |
Missense |
5/22 |
- |
13 |
1-196646702-G-A |
c.524G>A |
p.R175Q |
Missense |
5/22 |
- |
16 |
1-196646702-G-C |
c.524G>C |
p.R175P |
Missense |
5/22 |
- |
9 |
1-196646702-G-T |
c.524G>T |
p.R175L |
Missense |
5/22 |
- |
1 |
1-196646704-T-C |
c.526T>C |
p.F176L |
Missense |
5/22 |
- |
4 |
1-196646706-T-A |
c.528T>A |
p.F176L |
Missense |
5/22 |
- |
2 |
1-196646706-T-G |
c.528T>G |
p.F176L |
Missense |
5/22 |
- |
2 |
1-196646707-G-A |
c.529G>A |
p.V177I |
Missense |
5/22 |
- |
2 |
1-196646707-G-C |
c.529G>C |
p.V177L |
Missense |
5/22 |
- |
1 |
1-196646708-T-A |
c.530T>A |
p.V177E |
Missense |
5/22 |
- |
1 |
1-196646710-T-C |
c.532T>C |
p.C178R |
Missense |
5/22 |
- |
2 |
1-196646710-TG-AC |
c.532_533delinsAC |
p.C178T |
Missense |
5/22 |
- |
1 |
1-196646712-T-C |
c.534T>C |
p.C178= |
Synonymous |
5/22 |
- |
1 |
1-196646715-ACTC-A |
c.537_539del |
p.N179_S180delinsK |
MultiAAMissense |
5/22 |
- |
2 |
1-196646716-T-G |
c.538T>G |
p.S180A |
Missense |
5/22 |
- |
1 |
1-196646718-A-G |
c.540A>G |
p.S180= |
Synonymous |
5/22 |
- |
1 |
1-196646719-G-A |
c.541G>A |
p.G181S |
Missense |
5/22 |
- |
1 |
1-196646720-G-C |
c.542G>C |
p.G181A |
Missense |
5/22 |
- |
3 |
1-196646722-T-C |
c.544T>C |
p.Y182H |
Missense |
5/22 |
- |
1 |
1-196646728-A-G |
c.550A>G |
p.I184V |
Missense |
5/22 |
- |
4 |
1-196646728-GA-G |
c.550del |
p.I184Lfs*33 |
Frameshift |
5/22 |
- |
5 |
1-196646729-T-C |
c.551T>C |
p.I184T |
Missense |
5/22 |
- |
1 |
1-196646731-G-A |
c.553G>A |
p.E185K |
Missense |
5/22 |
- |
2 |
1-196646734-G-A |
c.556G>A |
p.G186R |
Missense |
5/22 |
- |
4 |
1-196646735-G-A |
c.557G>A |
p.G186E |
Missense |
5/22 |
- |
4 |
1-196646736-A-C |
c.558A>C |
p.G186= |
Synonymous |
5/22 |
- |
1 |
1-196646736-A-G |
c.558A>G |
p.G186= |
Synonymous |
5/22 |
- |
1 |
1-196646736-A-T |
c.558A>T |
p.G186= |
Synonymous |
5/22 |
- |
1 |
1-196646736-GA-G |
c.558del |
p.D187Mfs*30 |
Frameshift |
5/22 |
- |
1 |
1-196646737-G-A |
c.559G>A |
p.D187N |
Missense |
5/22 |
- |
1 |
1-196646737-G-C |
c.559G>C |
p.D187H |
Missense |
5/22 |
- |
1 |
1-196646737-G-T |
c.559G>T |
p.D187Y |
Missense |
5/22 |
- |
1 |
1-196646738-A-T |
c.560A>T |
p.D187V |
Missense |
5/22 |
- |
2 |
1-196646739-T-C |
c.561T>C |
p.D187= |
Synonymous |
5/22 |
- |
1 |
1-196646740-G-A |
c.562G>A |
p.E188K |
Missense |
5/22 |
- |
1 |
1-196646743-G-A |
c.565G>A |
p.E189K |
Missense |
5/22 |
- |
4 |
1-196646743-G-C |
c.565G>C |
p.E189Q |
Missense |
5/22 |
- |
1 |
1-196646743-G-T |
c.565G>T |
p.E189* |
Nonsense |
5/22 |
- |
3 |
1-196646750-A-G |
c.572A>G |
p.H191R |
Missense |
5/22 |
- |
2 |
1-196646753-G-A |
c.575G>A |
p.C192Y |
Missense |
5/22 |
- |
2 |
1-196646753-G-C |
c.575G>C |
p.C192S |
Missense |
5/22 |
- |
1 |
1-196646753-G-T |
c.575G>T |
p.C192F |
Missense |
5/22 |
- |
6 |
1-196646754-T-C |
c.576T>C |
p.C192= |
Synonymous |
5/22 |
- |
1 |
1-196646755-T-C |
c.577T>C |
p.S193P |
Missense |
5/22 |
- |
1 |
1-196646756-C-G |
c.578C>G |
p.S193* |
Nonsense |
5/22 |
- |
1 |
1-196646756-C-T |
c.578C>T |
p.S193L |
Missense |
5/22 |
- |
11 |
1-196646758-G-A |
c.580G>A |
p.D194N |
Missense |
5/22 |
- |
2 |
1-196646760-C-A |
c.582C>A |
p.D194E |
Missense |
5/22 |
- |
2 |
1-196646760-C-G |
c.582C>G |
p.D194E |
Missense |
5/22 |
- |
1 |
1-196646760-C-T |
c.582C>T |
p.D194= |
Synonymous |
5/22 |
- |
3 |
1-196646761-G-A |
c.583G>A |
p.D195N |
Missense |
5/22 |
- |
1 |
1-196646761-G-C |
c.583G>C |
p.D195H |
Missense |
5/22 |
- |
4 |
1-196646761-G-T |
c.583G>T |
p.D195Y |
Missense |
5/22 |
- |
1 |
1-196646764-G-C |
c.586G>C |
p.G196R |
Missense |
5/22 |
- |
4 |
1-196646764-GGT-AAG |
c.586_588delinsAAG |
p.G196K |
Missense |
5/22 |
- |
1 |
1-196646765-G-C |
c.587G>C |
p.G196A |
Missense |
5/22 |
- |
1 |
1-196646765-GT-AG |
c.587_588delinsAG |
p.G196E |
Missense |
5/22 |
- |
1 |
1-196646767-T-C |
c.589T>C |
p.F197L |
Missense |
5/22 |
- |
1 |
1-196646767-T-G |
c.589T>G |
p.F197V |
Missense |
5/22 |
- |
1 |
1-196646769-T-A |
c.591T>A |
p.F197L |
Missense |
5/22 |
- |
1 |
1-196646769-T-G |
c.591T>G |
p.F197L |
Missense |
5/22 |
- |
4 |
1-196646765-GT-G |
c.592del |
p.W198Gfs*19 |
Frameshift |
5/22 |
- |
1 |
1-196646770-T-C |
c.592T>C |
p.W198R |
Missense |
5/22 |
- |
3 |
1-196646771-G-A |
c.593G>A |
p.W198* |
Nonsense |
5/22 |
- |
2 |
1-196646772-G-A |
c.594G>A |
p.W198* |
Nonsense |
5/22 |
- |
1 |
1-196646773-A-G |
c.595A>G |
p.S199G |
Missense |
5/22 |
- |
3 |
1-196646774-G-A |
c.596G>A |
p.S199N |
Missense |
5/22 |
- |
1 |
1-196646774-G-C |
c.596G>C |
p.S199T |
Missense |
5/22 |
- |
1 |
1-196646776-AA-GC |
c.598_599delinsGC |
p.K200A |
Missense |
5/22 |
- |
1 |
1-196646776-A-G |
c.598A>G |
p.K200E |
Missense |
5/22 |
- |
1 |
1-196646776-TAAA-T |
c.598_600del |
p.K200del |
InFrameDeletion |
5/22 |
- |
1 |
1-196646777-A-C |
c.599A>C |
p.K200T |
Missense |
5/22 |
- |
1 |
1-196646777-A-G |
c.599A>G |
p.K200R |
Missense |
5/22 |
- |
1 |
1-196646779-G-A |
c.601G>A |
p.E201K |
Missense |
5/22 |
- |
2 |
1-196646781-G-A |
c.603G>A |
p.E201= |
Synonymous |
5/22 |
- |
2 |
1-196646783-A-C |
c.605A>C |
p.K202T |
Missense |
5/22 |
- |
1 |
1-196646786-C-T |
c.608C>T |
p.P203L |
Missense |
5/22 |
- |
1 |
1-196646787-A-C |
c.609A>C |
p.P203= |
Synonymous |
5/22 |
- |
1 |
1-196646787-A-G |
c.609A>G |
p.P203= |
Synonymous |
5/22 |
- |
1 |
1-196646787-A-T |
c.609A>T |
p.P203= |
Synonymous |
5/22 |
- |
1 |
1-196646788-A-C |
c.610A>C |
p.K204Q |
Missense |
5/22 |
- |
1 |
1-196646790-G-A |
c.612G>A |
p.K204= |
Synonymous |
5/22 |
- |
1 |
1-196646790-G-C |
c.612G>C |
p.K204N |
Missense |
5/22 |
- |
1 |
1-196646790-G-T |
c.612G>T |
p.K204N |
Missense |
5/22 |
- |
1 |
1-196646794-G-A |
c.616G>A |
p.V206M |
Missense |
5/22 |
- |
1 |
1-196646793-T-TGTACA |
c.617_618insACAGT |
p.E207Qfs*12 |
Frameshift |
5/22 |
- |
1 |
1-196646797-G-A |
c.619G>A |
p.E207K |
Missense |
5/22 |
- |
1 |
1-196646797-G-GAAATTTCATGCAAATCCCCAGATGTTATAAATGGATCTCCTATATCTCAGAAGATTATTTATAAGGA |
c.619_619+1insAAATTTCATGCAAATCCCCAGATGTTATAAATGGATCTCCTATATCTCAGAAGATTATTTATAAGGA |
p.E231Ffs*20 |
SpliceDonorInsertion |
- |
- |
1 |
1-196646798-G-A |
c.619+1G>A |
- |
IntronicSNV |
- |
5/21 |
2 |
1-196646807-A-C |
c.619+10A>C |
- |
IntronicSNV |
- |
5/21 |
1 |
1-196646807-A-G |
c.619+10A>G |
- |
IntronicSNV |
- |
5/21 |
1 |
1-196646815-T-C |
c.619+18T>C |
- |
IntronicSNV |
- |
5/21 |
1 |
1-196646993-C-T |
c.619+196C>T |
- |
IntronicSNV |
- |
5/21 |
1 |
1-196648613-C-A |
c.620-140C>A |
- |
IntronicSNV |
- |
5/21 |
1 |
1-196648613-C-T |
c.620-140C>T |
- |
IntronicSNV |
- |
5/21 |
1 |
1-196648755-AT-TA |
c.622_623delinsTA |
p.I208Y |
Missense |
6/22 |
- |
4 |
1-196648757-T-C |
c.624T>C |
p.I208= |
Synonymous |
6/22 |
- |
1 |
1-196648758-T-G |
c.625T>G |
p.S209A |
Missense |
6/22 |
- |
2 |
1-196648759-C-A |
c.626C>A |
p.S209* |
Nonsense |
6/22 |
- |
3 |
1-196648759-C-G |
c.626C>G |
p.S209* |
Nonsense |
6/22 |
- |
2 |
1-196648759-C-T |
c.626C>T |
p.S209L |
Missense |
6/22 |
- |
2 |
1-196648761-TG-GC |
c.628_629delinsGC |
p.C210A |
Missense |
6/22 |
- |
1 |
1-196648762-G-A |
c.629G>A |
p.C210Y |
Missense |
6/22 |
- |
3 |
1-196648762-G-T |
c.629G>T |
p.C210F |
Missense |
6/22 |
- |
5 |
1-196648765-A-G |
c.632A>G |
p.K211R |
Missense |
6/22 |
- |
1 |
1-196648768-C-T |
c.635C>T |
p.S212F |
Missense |
6/22 |
- |
2 |
1-196648769-C-T |
c.636C>T |
p.S212= |
Synonymous |
6/22 |
- |
1 |
1-196648770-C-T |
c.637C>T |
p.P213S |
Missense |
6/22 |
- |
3 |
1-196648771-C-T |
c.638C>T |
p.P213L |
Missense |
6/22 |
- |
1 |
1-196648773-G-A |
c.640G>A |
p.D214N |
Missense |
6/22 |
- |
4 |
1-196648773-G-T |
c.640G>T |
p.D214Y |
Missense |
6/22 |
- |
2 |
1-196648774-A-G |
c.641A>G |
p.D214G |
Missense |
6/22 |
- |
1 |
1-196648776-G-A |
c.643G>A |
p.V215I |
Missense |
6/22 |
- |
4 |
1-196648776-GTT-ATG |
c.643_645delinsATG |
p.V215M |
Missense |
6/22 |
- |
1 |
1-196648777-T-C |
c.644T>C |
p.V215A |
Missense |
6/22 |
- |
1 |
1-196648777-T-G |
c.644T>G |
p.V215G |
Missense |
6/22 |
- |
5 |
1-196648779-A-G |
c.646A>G |
p.I216V |
Missense |
6/22 |
- |
4 |
1-196648780-T-A |
c.647T>A |
p.I216K |
Missense |
6/22 |
- |
1 |
1-196648780-T-C |
c.647T>C |
p.I216T |
Missense |
6/22 |
- |
6 |
1-196648782-AAT-TAA |
c.649_651delinsTAA |
p.N217* |
Nonsense |
6/22 |
- |
1 |
1-196648784-T-C |
c.651T>C |
p.N217= |
Synonymous |
6/22 |
- |
1 |
1-196648785-GG-AA |
c.652_653delinsAA |
p.G218K |
Missense |
6/22 |
- |
1 |
1-196648785-G-T |
c.652G>T |
p.G218* |
Nonsense |
6/22 |
- |
1 |
1-196648786-G-A |
c.653G>A |
p.G218E |
Missense |
6/22 |
- |
4 |
1-196648789-C-G |
c.656C>G |
p.S219C |
Missense |
6/22 |
- |
1 |
1-196648789-C-T |
c.656C>T |
p.S219F |
Missense |
6/22 |
- |
1 |
1-196648788-TCTC-T |
c.658_660del |
p.P220del |
InFrameDeletion |
6/22 |
- |
1 |
1-196648791-C-T |
c.658C>T |
p.P220S |
Missense |
6/22 |
- |
5 |
1-196648792-C-T |
c.659C>T |
p.P220L |
Missense |
6/22 |
- |
1 |
1-196648793-T-C |
c.660T>C |
p.P220= |
Synonymous |
6/22 |
- |
1 |
1-196648794-A-G |
c.661A>G |
p.I221V |
Missense |
6/22 |
- |
4 |
1-196648795-T-C |
c.662T>C |
p.I221T |
Missense |
6/22 |
- |
1 |
1-196648796-A-G |
c.663A>G |
p.I221M |
Missense |
6/22 |
- |
3 |
1-196648797-T-C |
c.664T>C |
p.S222P |
Missense |
6/22 |
- |
1 |
1-196648799-T-A |
c.666T>A |
p.S222= |
Synonymous |
6/22 |
- |
1 |
1-196648799-T-C |
c.666T>C |
p.S222= |
Synonymous |
6/22 |
- |
1 |
1-196648799-T-G |
c.666T>G |
p.S222= |
Synonymous |
6/22 |
- |
1 |
1-196648801-A-G |
c.668A>G |
p.Q223R |
Missense |
6/22 |
- |
1 |
1-196648802-AG-A |
c.669del |
p.K224Rfs*57 |
Frameshift |
6/22 |
- |
1 |
1-196648802-G-A |
c.669G>A |
p.Q223= |
Synonymous |
6/22 |
- |
4 |
1-196648803-A-T |
c.670A>T |
p.K224* |
Nonsense |
6/22 |
- |
1 |
1-196648800-CAGA-C |
c.671_673del |
p.K224del |
InFrameDeletion |
6/22 |
- |
2 |
1-196648805-G-C |
c.672G>C |
p.K224N |
Missense |
6/22 |
- |
1 |
1-196648807-T-G |
c.674T>G |
p.I225S |
Missense |
6/22 |
- |
1 |
1-196648813-A-G |
c.680A>G |
p.Y227C |
Missense |
6/22 |
- |
3 |
1-196648817-G-A |
c.684G>A |
p.K228= |
Synonymous |
6/22 |
- |
1 |
1-196648818-G-A |
c.685G>A |
p.E229K |
Missense |
6/22 |
- |
4 |
1-196648820-G-T |
c.687G>T |
p.E229D |
Missense |
6/22 |
- |
1 |
1-196648822-A-C |
c.689A>C |
p.N230T |
Missense |
6/22 |
- |
1 |
1-196648822-A-G |
c.689A>G |
p.N230S |
Missense |
6/22 |
- |
2 |
1-196648824-G-A |
c.691G>A |
p.E231K |
Missense |
6/22 |
- |
3 |
1-196648827-C-A |
c.694C>A |
p.R232= |
Synonymous |
6/22 |
- |
1 |
1-196648827-C-T |
c.694C>T |
p.R232* |
Nonsense |
6/22 |
- |
3 |
1-196648829-A-C |
c.696A>C |
p.R232= |
Synonymous |
6/22 |
- |
1 |
1-196648829-A-G |
c.696A>G |
p.R232= |
Synonymous |
6/22 |
- |
1 |
1-196648829-A-T |
c.696A>T |
p.R232= |
Synonymous |
6/22 |
- |
1 |
1-196648828-G-A |
c.695G>A |
p.R232Q |
Missense |
6/22 |
- |
10 |
1-196648828-G-T |
c.695G>T |
p.R232L |
Missense |
6/22 |
- |
2 |
1-196648830-T-C |
c.697T>C |
p.F233L |
Missense |
6/22 |
- |
1 |
1-196648832-T-A |
c.699T>A |
p.F233L |
Missense |
6/22 |
- |
1 |
1-196648832-T-G |
c.699T>G |
p.F233L |
Missense |
6/22 |
- |
1 |
1-196648833-C-A |
c.700C>A |
p.Q234K |
Missense |
6/22 |
- |
1 |
1-196648835-A-C |
c.702A>C |
p.Q234H |
Missense |
6/22 |
- |
1 |
1-196648836-T-C |
c.703T>C |
p.Y235H |
Missense |
6/22 |
- |
1 |
1-196648840-A-C |
c.707A>C |
p.K236T |
Missense |
6/22 |
- |
1 |
1-196648841-ATG-A |
c.710_711del |
p.C237* |
Frameshift |
6/22 |
- |
1 |
1-196648844-T-A |
c.711T>A |
p.C237* |
Nonsense |
6/22 |
- |
1 |
1-196648845-A-C |
c.712A>C |
p.N238H |
Missense |
6/22 |
- |
1 |
1-196648845-A-G |
c.712A>G |
p.N238D |
Missense |
6/22 |
- |
5 |
1-196648846-A-G |
c.713A>G |
p.N238S |
Missense |
6/22 |
- |
1 |
1-196648851-G-A |
c.718G>A |
p.G240S |
Missense |
6/22 |
- |
3 |
1-196648851-G-C |
c.718G>C |
p.G240R |
Missense |
6/22 |
- |
2 |
1-196648851-GG-AC |
c.718_719delinsAC |
p.G240T |
Missense |
6/22 |
- |
1 |
1-196648852-G-A |
c.719G>A |
p.G240D |
Missense |
6/22 |
- |
3 |
1-196648852-GT-AG |
c.719_720delinsAG |
p.G240E |
Missense |
6/22 |
- |
1 |
1-196648857-G-A |
c.724G>A |
p.E242K |
Missense |
6/22 |
- |
2 |
1-196648860-T-C |
c.727T>C |
p.Y243H |
Missense |
6/22 |
- |
3 |
1-196648862-C-A |
c.729C>A |
p.Y243* |
Nonsense |
6/22 |
- |
1 |
1-196648862-C-G |
c.729C>G |
p.Y243* |
Nonsense |
6/22 |
- |
1 |
1-196648864-G-A |
c.731G>A |
p.S244N |
Missense |
6/22 |
- |
2 |
1-196648864-G-C |
c.731G>C |
p.S244T |
Missense |
6/22 |
- |
1 |
1-196648866-G-A |
c.733G>A |
p.E245K |
Missense |
6/22 |
- |
2 |
1-196648867-A-G |
c.734A>G |
p.E245G |
Missense |
6/22 |
- |
1 |
1-196648870-G-A |
c.737G>A |
p.R246K |
Missense |
6/22 |
- |
1 |
1-196648870-G-C |
c.737G>C |
p.R246T |
Missense |
6/22 |
- |
2 |
1-196648871-A-T |
c.738A>T |
p.R246S |
Missense |
6/22 |
- |
1 |
1-196648872-G-A |
c.739G>A |
p.G247R |
Missense |
6/22 |
- |
1 |
1-196648872-G-C |
c.739G>C |
p.G247R |
Missense |
6/22 |
- |
1 |
1-196648872-GGA-AGC |
c.739_741delinsAGC |
p.G247S |
Missense |
6/22 |
- |
1 |
1-196648871-AG-A |
c.740del |
p.G247Efs*34 |
Frameshift |
6/22 |
- |
1 |
1-196648873-G-C |
c.740G>C |
p.G247A |
Missense |
6/22 |
- |
1 |
1-196648875-G-A |
c.742G>A |
p.D248N |
Missense |
6/22 |
- |
1 |
1-196648875-G-C |
c.742G>C |
p.D248H |
Missense |
6/22 |
- |
1 |
1-196648875-G-T |
c.742G>T |
p.D248Y |
Missense |
6/22 |
- |
2 |
1-196648881-G-A |
c.748G>A |
p.V250I |
Missense |
6/22 |
- |
1 |
1-196648883-A-G |
c.750A>G |
p.V250= |
Synonymous |
6/22 |
- |
1 |
1-196648884-T-A |
c.751T>A |
p.C251S |
Missense |
6/22 |
- |
3 |
1-196648884-T-G |
c.751T>G |
p.C251G |
Missense |
6/22 |
- |
1 |
1-196648885-G-C |
c.752G>C |
p.C251S |
Missense |
6/22 |
- |
5 |
1-196648885-G-T |
c.752G>T |
p.C251F |
Missense |
6/22 |
- |
1 |
1-196648888-C-T |
c.755C>T |
p.T252I |
Missense |
6/22 |
- |
1 |
1-196648890-G-A |
c.757G>A |
p.E253K |
Missense |
6/22 |
- |
2 |
1-196648890-G-T |
c.757G>T |
p.E253* |
Nonsense |
6/22 |
- |
1 |
1-196648893-AT-A |
c.760del |
p.S254Lfs*27 |
Frameshift |
6/22 |
- |
1 |
1-196648893-TC-AA |
c.760_761delinsAA |
p.S254N |
Missense |
6/22 |
- |
1 |
1-196648894-C-T |
c.761C>T |
p.S254F |
Missense |
6/22 |
- |
1 |
1-196648894-CTGGATGGCGTCCG-C |
c.763_775del |
p.G255Cfs*22 |
Frameshift |
6/22 |
- |
1 |
1-196648896-GGA-TGT |
c.763_765delinsTGT |
p.G255C |
Missense |
6/22 |
- |
1 |
1-196648897-G-A |
c.764G>A |
p.G255E |
Missense |
6/22 |
- |
5 |
1-196648897-GA-AC |
c.764_765delinsAC |
p.G255D |
Missense |
6/22 |
- |
1 |
1-196648897-G-T |
c.764G>T |
p.G255V |
Missense |
6/22 |
- |
1 |
1-196648900-G-A |
c.767G>A |
p.W256* |
Nonsense |
6/22 |
- |
1 |
1-196648900-G-T |
c.767G>T |
p.W256L |
Missense |
6/22 |
- |
1 |
1-196648901-G-A |
c.768G>A |
p.W256* |
Nonsense |
6/22 |
- |
1 |
1-196648902-C-T |
c.769C>T |
p.R257C |
Missense |
6/22 |
- |
8 |
1-196648903-G-A |
c.770G>A |
p.R257H |
Missense |
6/22 |
- |
10 |
1-196648905-C-T |
c.772C>T |
p.P258S |
Missense |
6/22 |
- |
2 |
1-196648906-C-T |
c.773C>T |
p.P258L |
Missense |
6/22 |
- |
10 |
1-196648907-G-A |
c.774G>A |
p.P258= |
Synonymous |
6/22 |
- |
5 |
1-196648907-G-C |
c.774G>C |
p.P258= |
Synonymous |
6/22 |
- |
2 |
1-196648907-G-T |
c.774G>T |
p.P258= |
Synonymous |
6/22 |
- |
2 |
1-196648910-G-A |
c.777G>A |
p.L259= |
Synonymous |
6/22 |
- |
1 |
1-196648911-C-T |
c.778C>T |
p.P260S |
Missense |
6/22 |
- |
7 |
1-196648912-C-A |
c.779C>A |
p.P260H |
Missense |
6/22 |
- |
1 |
1-196648915-C-T |
c.782C>T |
p.S261L |
Missense |
6/22 |
- |
1 |
1-196648917-T-G |
c.784T>G |
p.C262G |
Missense |
6/22 |
- |
1 |
1-196648917-TG-GC |
c.784_785delinsGC |
p.C262A |
Missense |
6/22 |
- |
1 |
1-196648918-G-A |
c.785G>A |
p.C262Y |
Missense |
6/22 |
- |
1 |
1-196648920-G-A |
c.787G>A |
p.E263K |
Missense |
6/22 |
- |
2 |
1-196648922-A-T |
c.789A>T |
p.E263D |
Missense |
6/22 |
- |
1 |
1-196648923-G-A |
c.790G>A |
p.E264K |
Missense |
6/22 |
- |
3 |
1-196648924-G-A |
c.790+1G>A |
- |
IntronicSNV |
- |
6/21 |
4 |
1-196649582-C-T |
c.790+659C>T |
- |
IntronicSNV |
- |
6/21 |
1 |
1-196651745-A-G |
c.791-2449A>G |
- |
IntronicSNV |
- |
6/21 |
1 |
1-196651832-T-C |
c.791-2362T>C |
- |
IntronicSNV |
- |
6/21 |
31 |
1-196652834-C-A |
c.791-1360C>A |
- |
IntronicSNV |
- |
6/21 |
3 |
1-196652834-C-T |
c.791-1360C>T |
- |
IntronicSNV |
- |
6/21 |
3 |
1-196654194-A-G |
c.791A>G |
p.E264G |
Missense |
7/22 |
- |
4 |
1-196654196-A-C |
c.793A>C |
p.K265Q |
Missense |
7/22 |
- |
1 |
1-196654199-TCA-AAC |
c.796_798delinsAAC |
p.S266N |
Missense |
7/22 |
- |
1 |
1-196654199-TC-AT |
c.796_797delinsAT |
p.S266I |
Missense |
7/22 |
- |
1 |
1-196654200-C-T |
c.797C>T |
p.S266L |
Missense |
7/22 |
- |
4 |
1-196654201-A-C |
c.798A>C |
p.S266= |
Synonymous |
7/22 |
- |
2 |
1-196654201-A-G |
c.798A>G |
p.S266= |
Synonymous |
7/22 |
- |
3 |
1-196654201-A-T |
c.798A>T |
p.S266= |
Synonymous |
7/22 |
- |
2 |
1-196654203-G-A |
c.800G>A |
p.C267Y |
Missense |
7/22 |
- |
5 |
1-196654204-T-G |
c.801T>G |
p.C267W |
Missense |
7/22 |
- |
1 |
1-196654205-G-A |
c.802G>A |
p.D268N |
Missense |
7/22 |
- |
3 |
1-196654211-C-T |
c.808C>T |
p.P270S |
Missense |
7/22 |
- |
1 |
1-196654212-CTTATAT-C |
c.811_816del |
p.Y271_I272del |
InFrameDeletion |
7/22 |
- |
1 |
1-196654214-T-C |
c.811T>C |
p.Y271H |
Missense |
7/22 |
- |
1 |
1-196654218-T-C |
c.815T>C |
p.I272T |
Missense |
7/22 |
- |
1 |
1-196654218-T-G |
c.815T>G |
p.I272S |
Missense |
7/22 |
- |
1 |
1-196654220-C-A |
c.817C>A |
p.P273T |
Missense |
7/22 |
- |
8 |
1-196654221-C-T |
c.818C>T |
p.P273L |
Missense |
7/22 |
- |
1 |
1-196654224-A-T |
c.821A>T |
p.N274I |
Missense |
7/22 |
- |
1 |
1-196654225-T-C |
c.822T>C |
p.N274= |
Synonymous |
7/22 |
- |
1 |
1-196654226-G-A |
c.823G>A |
p.G275S |
Missense |
7/22 |
- |
2 |
1-196654226-G-C |
c.823G>C |
p.G275R |
Missense |
7/22 |
- |
1 |
1-196654226-G-T |
c.823G>T |
p.G275C |
Missense |
7/22 |
- |
1 |
1-196654227-G-C |
c.824G>C |
p.G275A |
Missense |
7/22 |
- |
1 |
1-196654229-G-A |
c.826G>A |
p.D276N |
Missense |
7/22 |
- |
1 |
1-196654229-TG-T |
c.826del |
p.D276Tfs*5 |
Frameshift |
7/22 |
- |
1 |
1-196654230-A-G |
c.827A>G |
p.D276G |
Missense |
7/22 |
- |
1 |
1-196654232-T-A |
c.829T>A |
p.Y277N |
Missense |
7/22 |
- |
1 |
1-196654233-A-G |
c.830A>G |
p.Y277C |
Missense |
7/22 |
- |
1 |
1-196654234-C-A |
c.831C>A |
p.Y277* |
Nonsense |
7/22 |
- |
1 |
1-196654234-C-G |
c.831C>G |
p.Y277* |
Nonsense |
7/22 |
- |
1 |
1-196654234-C-T |
c.831C>T |
p.Y277= |
Synonymous |
7/22 |
- |
2 |
1-196654235-T-C |
c.832T>C |
p.S278P |
Missense |
7/22 |
- |
1 |
1-196654239-C-A |
c.836C>A |
p.P279H |
Missense |
7/22 |
- |
2 |
1-196654239-C-T |
c.836C>T |
p.P279L |
Missense |
7/22 |
- |
1 |
1-196654240-T-G |
c.837T>G |
p.P279= |
Synonymous |
7/22 |
- |
2 |
1-196654241-T-C |
c.838T>C |
p.L280= |
Synonymous |
7/22 |
- |
2 |
1-196654244-A-T |
c.841A>T |
p.R281W |
Missense |
7/22 |
- |
1 |
1-196654245-G-C |
c.842G>C |
p.R281T |
Missense |
7/22 |
- |
1 |
1-196654245-G-T |
c.842G>T |
p.R281M |
Missense |
7/22 |
- |
1 |
1-196654246-G-A |
c.843G>A |
p.R281= |
Synonymous |
7/22 |
- |
2 |
1-196654246-G-C |
c.843G>C |
p.R281S |
Missense |
7/22 |
- |
1 |
1-196654246-G-T |
c.843G>T |
p.R281S |
Missense |
7/22 |
- |
2 |
1-196654250-A-G |
c.847A>G |
p.K283E |
Missense |
7/22 |
- |
1 |
1-196654252-A-G |
c.849A>G |
p.K283= |
Synonymous |
7/22 |
- |
1 |
1-196654253-C-T |
c.850C>T |
p.H284Y |
Missense |
7/22 |
- |
1 |
1-196654255-C-T |
c.852C>T |
p.H284= |
Synonymous |
7/22 |
- |
1 |
1-196654256-AG-CA |
c.853_854delinsCA |
p.R285Q |
Missense |
7/22 |
- |
1 |
1-196654256-A-T |
c.853A>T |
p.R285* |
Nonsense |
7/22 |
- |
1 |
1-196654257-G-A |
c.854G>A |
p.R285K |
Missense |
7/22 |
- |
3 |
1-196654258-GAA-G |
c.855_856del |
p.R285Sfs*4 |
Frameshift |
7/22 |
- |
1 |
1-196654260-C-G |
c.857C>G |
p.T286S |
Missense |
7/22 |
- |
1 |
1-196654261-CT-C |
c.858del |
p.G287Efs*36 |
Frameshift |
7/22 |
- |
1 |
1-196654262-G-A |
c.859G>A |
p.G287R |
Missense |
7/22 |
- |
6 |
1-196654262-G-C |
c.859G>C |
p.G287R |
Missense |
7/22 |
- |
4 |
1-196654266-A-C |
c.863A>C |
p.D288A |
Missense |
7/22 |
- |
2 |
1-196654266-A-G |
c.863A>G |
p.D288G |
Missense |
7/22 |
- |
2 |
1-196654268-G-A |
c.865G>A |
p.E289K |
Missense |
7/22 |
- |
8 |
1-196654269-A-C |
c.866A>C |
p.E289A |
Missense |
7/22 |
- |
1 |
1-196654269-A-T |
c.866A>T |
p.E289V |
Missense |
7/22 |
- |
1 |
1-196654270-A-C |
c.867A>C |
p.E289D |
Missense |
7/22 |
- |
1 |
1-196654270-A-T |
c.867A>T |
p.E289D |
Missense |
7/22 |
- |
1 |
1-196654272-T-C |
c.869T>C |
p.I290T |
Missense |
7/22 |
- |
2 |
1-196654273-C-T |
c.870C>T |
p.I290= |
Synonymous |
7/22 |
- |
2 |
1-196654274-A-T |
c.871A>T |
p.T291S |
Missense |
7/22 |
- |
2 |
1-196654276-G-A |
c.873G>A |
p.T291= |
Synonymous |
7/22 |
- |
1 |
1-196654276-G-C |
c.873G>C |
p.T291= |
Synonymous |
7/22 |
- |
2 |
1-196654276-G-T |
c.873G>T |
p.T291= |
Synonymous |
7/22 |
- |
1 |
1-196654278-A-C |
c.875A>C |
p.Y292S |
Missense |
7/22 |
- |
1 |
1-196654282-AG-A |
c.879del |
p.Q293Hfs*30 |
Frameshift |
7/22 |
- |
1 |
1-196654282-G-C |
c.879G>C |
p.Q293H |
Missense |
7/22 |
- |
1 |
1-196654282-G-T |
c.879G>T |
p.Q293H |
Missense |
7/22 |
- |
1 |
1-196654283-T-G |
c.880T>G |
p.C294G |
Missense |
7/22 |
- |
1 |
1-196654285-T-A |
c.882T>A |
p.C294* |
Nonsense |
7/22 |
- |
1 |
1-196654290-A-G |
c.887A>G |
p.N296S |
Missense |
7/22 |
- |
1 |
1-196654292-G-A |
c.889G>A |
p.G297S |
Missense |
7/22 |
- |
3 |
1-196654293-G-A |
c.890G>A |
p.G297D |
Missense |
7/22 |
- |
4 |
1-196654293-G-C |
c.890G>C |
p.G297A |
Missense |
7/22 |
- |
1 |
1-196654293-G-T |
c.890G>T |
p.G297V |
Missense |
7/22 |
- |
4 |
1-196654295-T-G |
c.892T>G |
p.F298V |
Missense |
7/22 |
- |
1 |
1-196654300-T-C |
c.897T>C |
p.Y299= |
Synonymous |
7/22 |
- |
2 |
1-196654301-C-A |
c.898C>A |
p.P300T |
Missense |
7/22 |
- |
1 |
1-196654301-CCT-TAA |
c.898_900delinsTAA |
p.P300* |
Nonsense |
7/22 |
- |
1 |
1-196654301-C-T |
c.898C>T |
p.P300S |
Missense |
7/22 |
- |
3 |
1-196654304-G-A |
c.901G>A |
p.A301T |
Missense |
7/22 |
- |
2 |
1-196654304-G-C |
c.901G>C |
p.A301P |
Missense |
7/22 |
- |
1 |
1-196654304-G-T |
c.901G>T |
p.A301S |
Missense |
7/22 |
- |
1 |
1-196654304-TGC-T |
c.901_902del |
p.A301Nfs*25 |
Frameshift |
7/22 |
- |
1 |
1-196654304-TG-T |
c.901del |
p.A301Qfs*22 |
Frameshift |
7/22 |
- |
2 |
1-196654307-A-G |
c.904A>G |
p.T302A |
Missense |
7/22 |
- |
4 |
1-196654308-CC-TG |
c.905_906delinsTG |
p.T302M |
Missense |
7/22 |
- |
1 |
1-196654310-C-A |
c.907C>A |
p.R303= |
Synonymous |
7/22 |
- |
1 |
1-196654310-C-T |
c.907C>T |
p.R303W |
Missense |
7/22 |
- |
4 |
1-196654311-G-A |
c.908G>A |
p.R303Q |
Missense |
7/22 |
- |
8 |
1-196654311-G-T |
c.908G>T |
p.R303L |
Missense |
7/22 |
- |
2 |
1-196654312-G-T |
c.909G>T |
p.R303= |
Synonymous |
7/22 |
- |
1 |
1-196654313-G-A |
c.910G>A |
p.G304R |
Missense |
7/22 |
- |
2 |
1-196654313-G-C |
c.910G>C |
p.G304R |
Missense |
7/22 |
- |
1 |
1-196654314-G-A |
c.911G>A |
p.G304E |
Missense |
7/22 |
- |
3 |
1-196654316-A-C |
c.913A>C |
p.N305H |
Missense |
7/22 |
- |
1 |
1-196654320-CA-AC |
c.917_918delinsAC |
p.T306N |
Missense |
7/22 |
- |
1 |
1-196654322-G-A |
c.919G>A |
p.A307T |
Missense |
7/22 |
- |
1 |
1-196654322-G-GC |
c.920dup |
p.C309Mfs*18 |
Frameshift |
7/22 |
- |
1 |
1-196654323-C-G |
c.920C>G |
p.A307G |
Missense |
7/22 |
- |
1 |
1-196654323-C-T |
c.920C>T |
p.A307V |
Missense |
7/22 |
- |
3 |
1-196654324-A-C |
c.921A>C |
p.A307= |
Synonymous |
7/22 |
- |
62 |
1-196654324-A-G |
c.921A>G |
p.A307= |
Synonymous |
7/22 |
- |
38 |
1-196654324-A-T |
c.921A>T |
p.A307= |
Synonymous |
7/22 |
- |
39 |
1-196654328-T-C |
c.925T>C |
p.C309R |
Missense |
7/22 |
- |
2 |
1-196654328-TG-AC |
c.925_926delinsAC |
p.C309T |
Missense |
7/22 |
- |
1 |
1-196654331-A-G |
c.928A>G |
p.T310A |
Missense |
7/22 |
- |
1 |
1-196654334-A-C |
c.931A>C |
p.S311R |
Missense |
7/22 |
- |
2 |
1-196654334-A-T |
c.931A>T |
p.S311C |
Missense |
7/22 |
- |
1 |
1-196654335-G-A |
c.932G>A |
p.S311N |
Missense |
7/22 |
- |
1 |
1-196654337-A-C |
c.934A>C |
p.T312P |
Missense |
7/22 |
- |
1 |
1-196654337-A-G |
c.934A>G |
p.T312A |
Missense |
7/22 |
- |
3 |
1-196654337-A-T |
c.934A>T |
p.T312S |
Missense |
7/22 |
- |
1 |
1-196654338-CT-TG |
c.935_936delinsTG |
p.T312M |
Missense |
7/22 |
- |
1 |
1-196654340-G-T |
c.937G>T |
p.G313C |
Missense |
7/22 |
- |
1 |
1-196654341-G-C |
c.938G>C |
p.G313A |
Missense |
7/22 |
- |
1 |
1-196654343-T-C |
c.940T>C |
p.W314R |
Missense |
7/22 |
- |
1 |
1-196654344-G-A |
c.941G>A |
p.W314* |
Nonsense |
7/22 |
- |
3 |
1-196654345-G-C |
c.942G>C |
p.W314C |
Missense |
7/22 |
- |
1 |
1-196654345-G-T |
c.942G>T |
p.W314C |
Missense |
7/22 |
- |
1 |
1-196654348-A-G |
c.945A>G |
p.I315M |
Missense |
7/22 |
- |
1 |
1-196654349-C-A |
c.946C>A |
p.P316T |
Missense |
7/22 |
- |
1 |
1-196654349-C-T |
c.946C>T |
p.P316S |
Missense |
7/22 |
- |
1 |
1-196654350-C-T |
c.947C>T |
p.P316L |
Missense |
7/22 |
- |
2 |
1-196654351-T-TCACCAG |
c.948_949insCACCAG |
p.P316_A317insHQ |
InFrameInsertion |
7/22 |
- |
1 |
1-196654356-C-T |
c.953C>T |
p.P318L |
Missense |
7/22 |
- |
1 |
1-196654357-G-A |
c.954G>A |
p.P318= |
Synonymous |
7/22 |
- |
4 |
1-196654357-G-C |
c.954G>C |
p.P318= |
Synonymous |
7/22 |
- |
1 |
1-196654358-AGA-TTT |
c.955_957delinsTTT |
p.R319F |
Missense |
7/22 |
- |
1 |
1-196654359-G-A |
c.956G>A |
p.R319K |
Missense |
7/22 |
- |
1 |
1-196654360-A-C |
c.957A>C |
p.R319S |
Missense |
7/22 |
- |
1 |
1-196654360-A-T |
c.957A>T |
p.R319S |
Missense |
7/22 |
- |
1 |
1-196654362-G-A |
c.959G>A |
p.C320Y |
Missense |
7/22 |
- |
4 |
1-196654364-A-C |
c.961A>C |
p.T321P |
Missense |
7/22 |
- |
1 |
1-196654365-C-T |
c.962C>T |
p.T321I |
Missense |
7/22 |
- |
2 |
1-196654404-C-T |
c.964+37C>T |
- |
IntronicSNV |
- |
7/21 |
1 |
1-196654525-T-C |
c.964+158T>C |
- |
IntronicSNV |
- |
7/21 |
1 |
1-196655713-T-C |
c.964+1346T>C |
- |
IntronicSNV |
- |
7/21 |
1 |
1-196655743-A-C |
c.964+1376A>C |
- |
IntronicSNV |
- |
7/21 |
2 |
1-196656205-A-T |
c.964+1838A>T |
- |
IntronicSNV |
- |
7/21 |
1 |
1-196656413-GA-G |
c.964+2048del |
- |
IntronicDeletion |
- |
7/21 |
1 |
1-196656910-A-G |
c.965-1640A>G |
- |
IntronicSNV |
- |
7/21 |
1 |
1-196657064-T-G |
c.965-1486T>G |
- |
IntronicSNV |
- |
7/21 |
30 |
1-196658279-T-A |
c.965-271T>A |
- |
IntronicSNV |
- |
7/21 |
9 |
1-196658279-T-C |
c.965-271T>C |
- |
IntronicSNV |
- |
7/21 |
9 |
1-196658497-G-T |
c.965-53G>T |
- |
IntronicSNV |
- |
7/21 |
8 |
1-196658532-T-A |
c.965-18T>A |
- |
IntronicSNV |
- |
7/21 |
1 |
1-196658551-G-A |
c.966G>A |
p.L322= |
Synonymous |
8/22 |
- |
3 |
1-196658552-A-C |
c.967A>C |
p.K323Q |
Missense |
8/22 |
- |
1 |
1-196658552-A-G |
c.967A>G |
p.K323E |
Missense |
8/22 |
- |
9 |
1-196658556-C-T |
c.971C>T |
p.P324L |
Missense |
8/22 |
- |
3 |
1-196658557-T-G |
c.972T>G |
p.P324= |
Synonymous |
8/22 |
- |
1 |
1-196658558-TG-AC |
c.973_974delinsAC |
p.C325T |
Missense |
8/22 |
- |
1 |
1-196658559-G-A |
c.974G>A |
p.C325Y |
Missense |
8/22 |
- |
4 |
1-196658561-G-A |
c.976G>A |
p.D326N |
Missense |
8/22 |
- |
1 |
1-196658563-T-G |
c.978T>G |
p.D326E |
Missense |
8/22 |
- |
1 |
1-196658567-C-A |
c.982C>A |
p.P328T |
Missense |
8/22 |
- |
1 |
1-196658567-C-T |
c.982C>T |
p.P328S |
Missense |
8/22 |
- |
2 |
1-196658568-C-T |
c.983C>T |
p.P328L |
Missense |
8/22 |
- |
2 |
1-196658571-A-G |
c.986A>G |
p.D329G |
Missense |
8/22 |
- |
1 |
1-196658571-GACA-G |
c.986_988del |
p.D329_I330delinsV |
MultiAAMissense |
8/22 |
- |
1 |
1-196658572-C-T |
c.987C>T |
p.D329= |
Synonymous |
8/22 |
- |
1 |
1-196658576-A-G |
c.991A>G |
p.K331E |
Missense |
8/22 |
- |
1 |
1-196658579-C-T |
c.994C>T |
p.H332Y |
Missense |
8/22 |
- |
1 |
1-196658582-G-A |
c.997G>A |
p.G333R |
Missense |
8/22 |
- |
4 |
1-196658582-G-C |
c.997G>C |
p.G333R |
Missense |
8/22 |
- |
2 |
1-196658582-GGA-AGC |
c.997_999delinsAGC |
p.G333S |
Missense |
8/22 |
- |
1 |
1-196658582-G-T |
c.997G>T |
p.G333* |
Nonsense |
8/22 |
- |
1 |
1-196658583-G-A |
c.998G>A |
p.G333E |
Missense |
8/22 |
- |
1 |
1-196658586-G-C |
c.1001G>C |
p.G334A |
Missense |
8/22 |
- |
2 |
1-196658588-C-G |
c.1003C>G |
p.L335V |
Missense |
8/22 |
- |
2 |
1-196658590-A-C |
c.1005A>C |
p.L335= |
Synonymous |
8/22 |
- |
1 |
1-196658599-G-A |
c.1014G>A |
p.E338= |
Synonymous |
8/22 |
- |
1 |
1-196658604-T-C |
c.1019T>C |
p.M340T |
Missense |
8/22 |
- |
1 |
1-196658606-CG-GC |
c.1021_1022delinsGC |
p.R341A |
Missense |
8/22 |
- |
1 |
1-196658606-CGT-TGA |
c.1021_1023delinsTGA |
p.R341* |
Nonsense |
8/22 |
- |
1 |
1-196658606-C-T |
c.1021C>T |
p.R341C |
Missense |
8/22 |
- |
5 |
1-196658607-G-A |
c.1022G>A |
p.R341H |
Missense |
8/22 |
- |
12 |
1-196658607-G-T |
c.1022G>T |
p.R341L |
Missense |
8/22 |
- |
4 |
1-196658609-A-G |
c.1024A>G |
p.R342G |
Missense |
8/22 |
- |
1 |
1-196658610-G-A |
c.1025G>A |
p.R342K |
Missense |
8/22 |
- |
1 |
1-196658609-A-C |
c.1024A>C |
p.R342= |
Synonymous |
8/22 |
- |
1 |
1-196658611-A-G |
c.1026A>G |
p.R342= |
Synonymous |
8/22 |
- |
1 |
1-196658612-C-T |
c.1027C>T |
p.P343S |
Missense |
8/22 |
- |
2 |
1-196658616-A-T |
c.1031A>T |
p.Y344F |
Missense |
8/22 |
- |
1 |
1-196658619-T-C |
c.1034T>C |
p.F345S |
Missense |
8/22 |
- |
1 |
1-196658621-C-T |
c.1036C>T |
p.P346S |
Missense |
8/22 |
- |
1 |
1-196658622-C-A |
c.1037C>A |
p.P346Q |
Missense |
8/22 |
- |
1 |
1-196658624-G-A |
c.1039G>A |
p.V347I |
Missense |
8/22 |
- |
1 |
1-196658627-GC-TG |
c.1042_1043delinsTG |
p.A348C |
Missense |
8/22 |
- |
1 |
1-196658629-T-A |
c.1044T>A |
p.A348= |
Synonymous |
8/22 |
- |
2 |
1-196658629-T-C |
c.1044T>C |
p.A348= |
Synonymous |
8/22 |
- |
2 |
1-196658629-T-G |
c.1044T>G |
p.A348= |
Synonymous |
8/22 |
- |
2 |
1-196658632-TA-T |
c.1047del |
p.G350Efs*63 |
UnclassifiedDeletion |
8/22 |
- |
1 |
1-196658634-G-A |
c.1049G>A |
p.G350E |
Missense |
8/22 |
- |
4 |
1-196658639-TAT-AAG |
c.1054_1056delinsAAG |
p.Y352K |
Missense |
8/22 |
- |
1 |
1-196658640-A-G |
c.1055A>G |
p.Y352C |
Missense |
8/22 |
- |
1 |
1-196658641-T-A |
c.1056T>A |
p.Y352* |
Nonsense |
8/22 |
- |
1 |
1-196658647-C-A |
c.1062C>A |
p.S354= |
Synonymous |
8/22 |
- |
2 |
1-196658647-C-G |
c.1062C>G |
p.S354= |
Synonymous |
8/22 |
- |
2 |
1-196658647-C-T |
c.1062C>T |
p.S354= |
Synonymous |
8/22 |
- |
2 |
1-196658649-A-C |
c.1064A>C |
p.Y355S |
Missense |
8/22 |
- |
2 |
1-196658649-A-G |
c.1064A>G |
p.Y355C |
Missense |
8/22 |
- |
1 |
1-196658654-CTGT-C |
c.1069_1071del |
p.C357del |
InFrameDeletion |
8/22 |
- |
1 |
1-196658654-T-A |
c.1069T>A |
p.C357S |
Missense |
8/22 |
- |
3 |
1-196658655-G-C |
c.1070G>C |
p.C357S |
Missense |
8/22 |
- |
1 |
1-196658656-T-G |
c.1071T>G |
p.C357W |
Missense |
8/22 |
- |
2 |
1-196658658-A-C |
c.1073A>C |
p.D358A |
Missense |
8/22 |
- |
1 |
1-196658658-A-G |
c.1073A>G |
p.D358G |
Missense |
8/22 |
- |
1 |
1-196658659-T-A |
c.1074T>A |
p.D358E |
Missense |
8/22 |
- |
1 |
1-196658659-T-G |
c.1074T>G |
p.D358E |
Missense |
8/22 |
- |
1 |
1-196658660-G-A |
c.1075G>A |
p.E359K |
Missense |
8/22 |
- |
6 |
1-196658660-G-T |
c.1075G>T |
p.E359* |
Nonsense |
8/22 |
- |
3 |
1-196658664-A-G |
c.1079A>G |
p.H360R |
Missense |
8/22 |
- |
2 |
1-196658669-G-A |
c.1084G>A |
p.E362K |
Missense |
8/22 |
- |
1 |
1-196658669-G-C |
c.1084G>C |
p.E362Q |
Missense |
8/22 |
- |
1 |
1-196658671-G-C |
c.1086G>C |
p.E362D |
Missense |
8/22 |
- |
1 |
1-196658671-G-T |
c.1086G>T |
p.E362D |
Missense |
8/22 |
- |
1 |
1-196658674-T-A |
c.1089T>A |
p.T363= |
Synonymous |
8/22 |
- |
1 |
1-196658674-T-C |
c.1089T>C |
p.T363= |
Synonymous |
8/22 |
- |
1 |
1-196658674-T-G |
c.1089T>G |
p.T363= |
Synonymous |
8/22 |
- |
1 |
1-196658675-C-A |
c.1090C>A |
p.P364T |
Missense |
8/22 |
- |
4 |
1-196658676-C-T |
c.1091C>T |
p.P364L |
Missense |
8/22 |
- |
2 |
1-196658682-G-A |
c.1097G>A |
p.G366E |
Missense |
8/22 |
- |
1 |
1-196658684-A-C |
c.1099A>C |
p.S367R |
Missense |
8/22 |
- |
2 |
1-196658684-A-G |
c.1099A>G |
p.S367G |
Missense |
8/22 |
- |
2 |
1-196658685-G-C |
c.1100G>C |
p.S367T |
Missense |
8/22 |
- |
1 |
1-196658687-T-C |
c.1102T>C |
p.Y368H |
Missense |
8/22 |
- |
1 |
1-196658689-C-G |
c.1104C>G |
p.Y368* |
Nonsense |
8/22 |
- |
1 |
1-196658691-G-A |
c.1106G>A |
p.W369* |
Nonsense |
8/22 |
- |
1 |
1-196658693-G-A |
c.1108G>A |
p.D370N |
Missense |
8/22 |
- |
1 |
1-196658696-C-A |
c.1111C>A |
p.H371N |
Missense |
8/22 |
- |
3 |
1-196658696-C-T |
c.1111C>T |
p.H371Y |
Missense |
8/22 |
- |
2 |
1-196658697-A-G |
c.1112A>G |
p.H371R |
Missense |
8/22 |
- |
1 |
1-196658699-A-G |
c.1114A>G |
p.I372V |
Missense |
8/22 |
- |
2 |
1-196658702-C-T |
c.1117C>T |
p.H373Y |
Missense |
8/22 |
- |
3 |
1-196658703-A-G |
c.1118A>G |
p.H373R |
Missense |
8/22 |
- |
1 |
1-196658705-T-G |
c.1120T>G |
p.C374G |
Missense |
8/22 |
- |
3 |
1-196658708-A-G |
c.1123A>G |
p.T375A |
Missense |
8/22 |
- |
1 |
1-196658709-CA-TG |
c.1124_1125inv |
p.T375M |
Missense |
8/22 |
- |
1 |
1-196658709-C-T |
c.1124C>T |
p.T375I |
Missense |
8/22 |
- |
1 |
1-196658711-C-A |
c.1126C>A |
p.Q376K |
Missense |
8/22 |
- |
1 |
1-196658711-C-T |
c.1126C>T |
p.Q376* |
Nonsense |
8/22 |
- |
2 |
1-196658714-G-C |
c.1129G>C |
p.D377H |
Missense |
8/22 |
- |
1 |
1-196658715-A-T |
c.1130A>T |
p.D377V |
Missense |
8/22 |
- |
2 |
1-196658716-T-A |
c.1131T>A |
p.D377E |
Missense |
8/22 |
- |
1 |
1-196658719-A-C |
c.1134A>C |
p.G378= |
Synonymous |
8/22 |
- |
1 |
1-196658719-A-G |
c.1134A>G |
p.G378= |
Synonymous |
8/22 |
- |
1 |
1-196658719-A-T |
c.1134A>T |
p.G378= |
Synonymous |
8/22 |
- |
1 |
1-196658720-T-A |
c.1135T>A |
p.W379R |
Missense |
8/22 |
- |
2 |
1-196658720-T-C |
c.1135T>C |
p.W379R |
Missense |
8/22 |
- |
3 |
1-196658724-C-T |
c.1139C>T |
p.S380L |
Missense |
8/22 |
- |
5 |
1-196658725-G-A |
c.1140G>A |
p.S380= |
Synonymous |
8/22 |
- |
1 |
1-196658728-A-C |
c.1143A>C |
p.P381= |
Synonymous |
8/22 |
- |
1 |
1-196658728-A-G |
c.1143A>G |
p.P381= |
Synonymous |
8/22 |
- |
1 |
1-196658729-G-A |
c.1144G>A |
p.A382T |
Missense |
8/22 |
- |
1 |
1-196658732-G-T |
c.1147G>T |
p.V383L |
Missense |
8/22 |
- |
1 |
1-196658733-T-C |
c.1148T>C |
p.V383A |
Missense |
8/22 |
- |
1 |
1-196658735-C-T |
c.1150C>T |
p.P384S |
Missense |
8/22 |
- |
1 |
1-196658738-T-C |
c.1153T>C |
p.C385R |
Missense |
8/22 |
- |
2 |
1-196658738-T-G |
c.1153T>G |
p.C385G |
Missense |
8/22 |
- |
1 |
1-196658739-G-A |
c.1154G>A |
p.C385Y |
Missense |
8/22 |
- |
1 |
1-196658742-T-C |
c.1157T>C |
p.L386P |
Missense |
8/22 |
- |
1 |
1-196658744-A-T |
c.1159A>T |
p.R387* |
Nonsense |
8/22 |
- |
1 |
1-196658757-C-T |
c.1159+13C>T |
- |
IntronicSNV |
- |
8/21 |
1 |
1-196658905-G-A |
c.1159+161G>A |
- |
IntronicSNV |
- |
8/21 |
4 |
1-196659193-G-A |
c.1160G>A |
p.R387K |
Missense |
9/22 |
- |
4 |
1-196659198-T-A |
c.1165T>A |
p.C389S |
Missense |
9/22 |
- |
2 |
1-196659198-T-C |
c.1165T>C |
p.C389R |
Missense |
9/22 |
- |
1 |
1-196659198-T-G |
c.1165T>G |
p.C389G |
Missense |
9/22 |
- |
1 |
1-196659199-G-C |
c.1166G>C |
p.C389S |
Missense |
9/22 |
- |
2 |
1-196659199-G-T |
c.1166G>T |
p.C389F |
Missense |
9/22 |
- |
2 |
1-196659200-T-C |
c.1167T>C |
p.C389= |
Synonymous |
9/22 |
- |
1 |
1-196659201-T-C |
c.1168T>C |
p.Y390H |
Missense |
9/22 |
- |
3 |
1-196659212-T-A |
c.1179T>A |
p.Y393* |
Nonsense |
9/22 |
- |
1 |
1-196659212-T-G |
c.1179T>G |
p.Y393* |
Nonsense |
9/22 |
- |
1 |
1-196659215-G-C |
c.1182G>C |
p.L394F |
Missense |
9/22 |
- |
1 |
1-196659215-G-T |
c.1182G>T |
p.L394F |
Missense |
9/22 |
- |
2 |
1-196659221-T-C |
c.1188T>C |
p.N396= |
Synonymous |
9/22 |
- |
1 |
1-196659222-G-A |
c.1189G>A |
p.G397R |
Missense |
9/22 |
- |
4 |
1-196659222-G-C |
c.1189G>C |
p.G397R |
Missense |
9/22 |
- |
1 |
1-196659222-GGA-TGT |
c.1189_1191delinsTGT |
p.G397C |
Missense |
9/22 |
- |
2 |
1-196659222-G-T |
c.1189G>T |
p.G397* |
Nonsense |
9/22 |
- |
1 |
1-196659223-GA-AC |
c.1190_1191delinsAC |
p.G397D |
Missense |
9/22 |
- |
1 |
1-196659224-A-C |
c.1191A>C |
p.G397= |
Synonymous |
9/22 |
- |
1 |
1-196659224-A-G |
c.1191A>G |
p.G397= |
Synonymous |
9/22 |
- |
1 |
1-196659224-A-T |
c.1191A>T |
p.G397= |
Synonymous |
9/22 |
- |
1 |
1-196659226-A-G |
c.1193A>G |
p.Y398C |
Missense |
9/22 |
- |
1 |
1-196659229-A-G |
c.1196A>G |
p.N399S |
Missense |
9/22 |
- |
2 |
1-196659231-C-A |
c.1198C>A |
p.Q400K |
Missense |
9/22 |
- |
20 |
1-196659232-A-C |
c.1199A>C |
p.Q400P |
Missense |
9/22 |
- |
1 |
1-196659237-C-A |
c.1204C>A |
p.H402N |
Missense |
9/22 |
- |
1 |
1-196659237-C-G |
c.1204C>G |
p.H402D |
Missense |
9/22 |
- |
1 |
1-196659237-C-T |
c.1204C>T |
p.H402Y |
Missense |
9/22 |
- |
620 |
1-196659238-A-G |
c.1205A>G |
p.H402R |
Missense |
9/22 |
- |
1 |
1-196659239-T-C |
c.1206T>C |
p.H402= |
Synonymous |
9/22 |
- |
1 |
1-196659240-G-T |
c.1207G>T |
p.G403* |
Nonsense |
9/22 |
- |
1 |
1-196659241-G-A |
c.1208G>A |
p.G403E |
Missense |
9/22 |
- |
1 |
1-196659244-G-T |
c.1211G>T |
p.R404I |
Missense |
9/22 |
- |
2 |
1-196659246-A-G |
c.1213A>G |
p.K405E |
Missense |
9/22 |
- |
1 |
1-196659248-G-C |
c.1215G>C |
p.K405N |
Missense |
9/22 |
- |
2 |
1-196659248-G-T |
c.1215G>T |
p.K405N |
Missense |
9/22 |
- |
1 |
1-196659249-T-G |
c.1216T>G |
p.F406V |
Missense |
9/22 |
- |
1 |
1-196659250-T-A |
c.1217T>A |
p.F406Y |
Missense |
9/22 |
- |
1 |
1-196659248-G-GT |
c.1218dup |
p.V407Cfs*4 |
Frameshift |
9/22 |
- |
1 |
1-196659252-G-C |
c.1219G>C |
p.V407L |
Missense |
9/22 |
- |
1 |
1-196659252-G-T |
c.1219G>T |
p.V407L |
Missense |
9/22 |
- |
1 |
1-196659255-C-T |
c.1222C>T |
p.Q408* |
Nonsense |
9/22 |
- |
9 |
1-196659257-G-A |
c.1224G>A |
p.Q408= |
Synonymous |
9/22 |
- |
1 |
1-196659258-G-T |
c.1225G>T |
p.G409C |
Missense |
9/22 |
- |
2 |
1-196659259-G-A |
c.1226G>A |
p.G409D |
Missense |
9/22 |
- |
1 |
1-196659261-A-G |
c.1228A>G |
p.K410E |
Missense |
9/22 |
- |
1 |
1-196659263-A-C |
c.1230A>C |
p.K410N |
Missense |
9/22 |
- |
1 |
1-196659263-A-T |
c.1230A>T |
p.K410N |
Missense |
9/22 |
- |
1 |
1-196659264-T-A |
c.1231T>A |
p.S411T |
Missense |
9/22 |
- |
5 |
1-196659270-G-T |
c.1237G>T |
p.D413Y |
Missense |
9/22 |
- |
1 |
1-196659272-C-T |
c.1239C>T |
p.D413= |
Synonymous |
9/22 |
- |
1 |
1-196659273-G-A |
c.1240G>A |
p.V414I |
Missense |
9/22 |
- |
3 |
1-196659276-G-A |
c.1243G>A |
p.A415T |
Missense |
9/22 |
- |
3 |
1-196659276-GC-TT |
c.1243_1244delinsTT |
p.A415F |
Missense |
9/22 |
- |
1 |
1-196659276-TG-T |
c.1243del |
p.A415Pfs*39 |
Frameshift |
9/22 |
- |
1 |
1-196659278-C-A |
c.1245C>A |
p.A415= |
Synonymous |
9/22 |
- |
1 |
1-196659278-C-G |
c.1245C>G |
p.A415= |
Synonymous |
9/22 |
- |
1 |
1-196659278-C-T |
c.1245C>T |
p.A415= |
Synonymous |
9/22 |
- |
1 |
1-196659281-C-G |
c.1248C>G |
p.C416W |
Missense |
9/22 |
- |
1 |
1-196659281-C-T |
c.1248C>T |
p.C416= |
Synonymous |
9/22 |
- |
1 |
1-196659283-A-G |
c.1250A>G |
p.H417R |
Missense |
9/22 |
- |
1 |
1-196659284-T-A |
c.1251T>A |
p.H417Q |
Missense |
9/22 |
- |
1 |
1-196659284-T-G |
c.1251T>G |
p.H417Q |
Missense |
9/22 |
- |
1 |
1-196659286-C-T |
c.1253C>T |
p.P418L |
Missense |
9/22 |
- |
3 |
1-196659288-G-T |
c.1255G>T |
p.G419C |
Missense |
9/22 |
- |
1 |
1-196659291-T-C |
c.1258T>C |
p.Y420H |
Missense |
9/22 |
- |
8 |
1-196659292-A-T |
c.1259A>T |
p.Y420F |
Missense |
9/22 |
- |
1 |
1-196659293-C-A |
c.1260C>A |
p.Y420* |
Nonsense |
9/22 |
- |
2 |
1-196659293-C-G |
c.1260C>G |
p.Y420* |
Nonsense |
9/22 |
- |
1 |
1-196659293-C-T |
c.1260C>T |
p.Y420= |
Synonymous |
9/22 |
- |
4 |
1-196659295-C-G |
c.1262C>G |
p.A421G |
Missense |
9/22 |
- |
1 |
1-196659296-T-A |
c.1263T>A |
p.A421= |
Synonymous |
9/22 |
- |
1 |
1-196659297-C-A |
c.1264C>A |
p.L422I |
Missense |
9/22 |
- |
1 |
1-196659297-C-G |
c.1264C>G |
p.L422V |
Missense |
9/22 |
- |
1 |
1-196659300-C-T |
c.1267C>T |
p.P423S |
Missense |
9/22 |
- |
1 |
1-196659301-C-T |
c.1268C>T |
p.P423L |
Missense |
9/22 |
- |
1 |
1-196659303-A-C |
c.1270A>C |
p.K424Q |
Missense |
9/22 |
- |
2 |
1-196659301-CA-C |
c.1272del |
p.A425Rfs*29 |
Frameshift |
9/22 |
- |
1 |
1-196659305-A-G |
c.1272A>G |
p.K424= |
Synonymous |
9/22 |
- |
1 |
1-196659306-G-A |
c.1273G>A |
p.A425T |
Missense |
9/22 |
- |
2 |
1-196659307-C-G |
c.1274C>G |
p.A425G |
Missense |
9/22 |
- |
1 |
1-196659307-C-T |
c.1274C>T |
p.A425V |
Missense |
9/22 |
- |
3 |
1-196659308-G-A |
c.1275G>A |
p.A425= |
Synonymous |
9/22 |
- |
2 |
1-196659308-G-C |
c.1275G>C |
p.A425= |
Synonymous |
9/22 |
- |
1 |
1-196659308-G-T |
c.1275G>T |
p.A425= |
Synonymous |
9/22 |
- |
1 |
1-196659309-C-T |
c.1276C>T |
p.Q426* |
Nonsense |
9/22 |
- |
1 |
1-196659310-A-G |
c.1277A>G |
p.Q426R |
Missense |
9/22 |
- |
1 |
1-196659314-C-A |
c.1281C>A |
p.T427= |
Synonymous |
9/22 |
- |
1 |
1-196659314-C-G |
c.1281C>G |
p.T427= |
Synonymous |
9/22 |
- |
1 |
1-196659314-C-T |
c.1281C>T |
p.T427= |
Synonymous |
9/22 |
- |
1 |
1-196659317-A-C |
c.1284A>C |
p.T428= |
Synonymous |
9/22 |
- |
4 |
1-196659317-A-G |
c.1284A>G |
p.T428= |
Synonymous |
9/22 |
- |
4 |
1-196659317-A-T |
c.1284A>T |
p.T428= |
Synonymous |
9/22 |
- |
3 |
1-196659319-T-C |
c.1286T>C |
p.V429A |
Missense |
9/22 |
- |
1 |
1-196659321-A-C |
c.1288A>C |
p.T430P |
Missense |
9/22 |
- |
1 |
1-196659324-T-A |
c.1291T>A |
p.C431S |
Missense |
9/22 |
- |
8 |
1-196659325-G-C |
c.1292G>C |
p.C431S |
Missense |
9/22 |
- |
6 |
1-196659325-G-A |
c.1292G>A |
p.C431Y |
Missense |
9/22 |
- |
9 |
1-196659329-G-A |
c.1296G>A |
p.M432I |
Missense |
9/22 |
- |
2 |
1-196659329-G-C |
c.1296G>C |
p.M432I |
Missense |
9/22 |
- |
1 |
1-196659329-G-T |
c.1296G>T |
p.M432I |
Missense |
9/22 |
- |
1 |
1-196659330-G-A |
c.1297G>A |
p.E433K |
Missense |
9/22 |
- |
1 |
1-196659331-A-C |
c.1298A>C |
p.E433A |
Missense |
9/22 |
- |
1 |
1-196659332-G-A |
c.1299G>A |
p.E433= |
Synonymous |
9/22 |
- |
1 |
1-196659332-G-T |
c.1299G>T |
p.E433D |
Missense |
9/22 |
- |
1 |
1-196659333-A-C |
c.1300A>C |
p.N434H |
Missense |
9/22 |
- |
1 |
1-196659338-C-A |
c.1305C>A |
p.G435= |
Synonymous |
9/22 |
- |
1 |
1-196659338-C-G |
c.1305C>G |
p.G435= |
Synonymous |
9/22 |
- |
1 |
1-196659338-C-T |
c.1305C>T |
p.G435= |
Synonymous |
9/22 |
- |
1 |
1-196659341-G-C |
c.1308G>C |
p.W436C |
Missense |
9/22 |
- |
2 |
1-196659341-G-T |
c.1308G>T |
p.W436C |
Missense |
9/22 |
- |
2 |
1-196659345-C-A |
c.1312C>A |
p.P438T |
Missense |
9/22 |
- |
4 |
1-196659346-C-T |
c.1313C>T |
p.P438L |
Missense |
9/22 |
- |
1 |
1-196659351-C-A |
c.1318C>A |
p.P440T |
Missense |
9/22 |
- |
1 |
1-196659351-C-G |
c.1318C>G |
p.P440A |
Missense |
9/22 |
- |
1 |
1-196659351-TCCCAGATGCA-T |
c.1318_1327del |
p.P440Sfs*11 |
Frameshift |
9/22 |
- |
1 |
1-196659354-A-G |
c.1321A>G |
p.R441G |
Missense |
9/22 |
- |
1 |
1-196659354-AGA-CAT |
c.1321_1323delinsCAT |
p.R441H |
Missense |
9/22 |
- |
1 |
1-196659354-AGA-TGT |
c.1321_1323delinsTGT |
p.R441C |
Missense |
9/22 |
- |
1 |
1-196659355-G-T |
c.1322G>T |
p.R441I |
Missense |
9/22 |
- |
1 |
1-196659362-C-A |
c.1329C>A |
p.I443= |
Synonymous |
9/22 |
- |
1 |
1-196659363-C-T |
c.1330C>T |
p.R444C |
Missense |
9/22 |
- |
1 |
1-196659367-T-C |
c.1334T>C |
p.V445A |
Missense |
9/22 |
- |
1 |
1-196659753-T-C |
c.1336+384T>C |
- |
IntronicSNV |
- |
9/21 |
2 |
1-196660261-A-G |
c.1336+892A>G |
- |
IntronicSNV |
- |
9/21 |
19 |
1-196660455-G-C |
c.1336+1086G>C |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196660456-G-A |
c.1336+1087G>A |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196660464-A-G |
c.1336+1095A>G |
- |
IntronicSNV |
- |
9/21 |
3 |
1-196660995-A-T |
c.1336+1626A>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196661181-A-G |
c.1336+1812A>G |
- |
IntronicSNV |
- |
9/21 |
2 |
1-196661538-A-G |
c.1336+2169A>G |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196661538-A-T |
c.1336+2169A>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196661613-G-T |
c.1336+2244G>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196661832-CT-C |
c.1336+2466del |
- |
IntronicDeletion |
- |
9/21 |
1 |
1-196662031-C-A |
c.1336+2662C>A |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196662031-C-T |
c.1336+2662C>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196662459-T-C |
c.1336+3090T>C |
- |
IntronicSNV |
- |
9/21 |
5 |
1-196663913-C-T |
c.1336+4544C>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196664651-C-T |
c.1336+5282C>T |
- |
IntronicSNV |
- |
9/21 |
2 |
1-196664793-T-G |
c.1336+5424T>G |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196667729-A-T |
c.1336+8360A>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196667944-C-A |
c.1336+8575C>A |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196667944-C-G |
c.1336+8575C>G |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196667944-C-T |
c.1336+8575C>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196668287-C-T |
c.1336+8918C>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196670227-AT-A |
c.1336+10858del |
- |
IntronicDeletion |
- |
9/21 |
1 |
1-196670398-T-G |
c.1336+11029T>G |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196670425-A-G |
c.1336+11056A>G |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196670472-G-A |
c.1336+11103G>A |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196670472-G-T |
c.1336+11103G>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196670494-G-C |
c.1336+11125G>C |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196670520-A-G |
c.1336+11151A>G |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196670757-C-T |
c.1336+11388C>T |
- |
IntronicSNV |
- |
9/21 |
6 |
1-196670839-A-G |
c.1336+11470A>G |
- |
IntronicSNV |
- |
9/21 |
3 |
1-196671118-G-A |
c.1337-11747G>A |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196671986-G-A |
c.1337-10879G>A |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196672454-G-A |
c.1337-10411G>A |
- |
IntronicSNV |
- |
9/21 |
7 |
1-196672473-C-T |
c.1337-10392C>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196673802-C-T |
c.1337-9063C>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196673993-A-C |
c.1337-8872A>C |
- |
IntronicSNV |
- |
9/21 |
6 |
1-196674270-C-T |
c.1337-8595C>T |
- |
IntronicSNV |
- |
9/21 |
4 |
1-196674714-T-A |
c.1337-8151T>A |
- |
IntronicSNV |
- |
9/21 |
10 |
1-196674917-T-C |
c.1337-7948T>C |
- |
IntronicSNV |
- |
9/21 |
2 |
1-196674982-G-A |
c.1337-7883G>A |
- |
IntronicSNV |
- |
9/21 |
16 |
1-196675179-G-A |
c.1337-7686G>A |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196675179-G-C |
c.1337-7686G>C |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196675179-G-T |
c.1337-7686G>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196675571-A-G |
c.1337-7294A>G |
- |
IntronicSNV |
- |
9/21 |
2 |
1-196675861-A-G |
c.1337-7004A>G |
- |
IntronicSNV |
- |
9/21 |
11 |
1-196676105-A-T |
c.1337-6760A>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196676935-A-C |
c.1337-5930A>C |
- |
IntronicSNV |
- |
9/21 |
5 |
1-196676935-A-T |
c.1337-5930A>T |
- |
IntronicSNV |
- |
9/21 |
5 |
1-196677163-C-A |
c.1337-5702C>A |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196677497-ACC-A |
c.1337-5368_1337-5367del |
- |
IntronicDeletion |
- |
9/21 |
1 |
1-196677898-A-T |
c.1337-4967A>T |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196677945-C-A |
c.1337-4920C>A |
- |
IntronicSNV |
- |
9/21 |
2 |
1-196679010-A-G |
c.1337-3855A>G |
- |
IntronicSNV |
- |
9/21 |
2 |
1-196679455-A-C |
c.1337-3410A>C |
- |
IntronicSNV |
- |
9/21 |
49 |
1-196679927-A-C |
c.1337-2938A>C |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196680814-C-T |
c.1337-2051C>T |
- |
IntronicSNV |
- |
9/21 |
2 |
1-196682346-G-A |
c.1337-519G>A |
- |
IntronicSNV |
- |
9/21 |
4 |
1-196682346-G-C |
c.1337-519G>C |
- |
IntronicSNV |
- |
9/21 |
4 |
1-196682518-C-A |
c.1337-347C>A |
- |
IntronicSNV |
- |
9/21 |
1 |
1-196682868-C-T |
c.1340C>T |
p.T447I |
Missense |
10/22 |
- |
1 |
1-196682871-G-A |
c.1343G>A |
p.C448Y |
Missense |
10/22 |
- |
1 |
1-196682875-C-T |
c.1347C>T |
p.S449= |
Synonymous |
10/22 |
- |
3 |
1-196682885-A-C |
c.1357A>C |
p.I453L |
Missense |
10/22 |
- |
1 |
1-196682885-A-G |
c.1357A>G |
p.I453V |
Missense |
10/22 |
- |
1 |
1-196682885-A-T |
c.1357A>T |
p.I453L |
Missense |
10/22 |
- |
1 |
1-196682887-TAGA-T |
c.1359_1361del |
p.D454del |
InFrameDeletion |
10/22 |
- |
1 |
1-196682888-G-A |
c.1360G>A |
p.D454N |
Missense |
10/22 |
- |
2 |
1-196682894-G-A |
c.1366G>A |
p.E456K |
Missense |
10/22 |
- |
1 |
1-196682894-G-C |
c.1366G>C |
p.E456Q |
Missense |
10/22 |
- |
1 |
1-196682896-G-T |
c.1368G>T |
p.E456D |
Missense |
10/22 |
- |
2 |
1-196682902-G-A |
c.1374G>A |
p.G458= |
Synonymous |
10/22 |
- |
3 |
1-196682902-G-T |
c.1374G>T |
p.G458= |
Synonymous |
10/22 |
- |
1 |
1-196682903-T-C |
c.1375T>C |
p.F459L |
Missense |
10/22 |
- |
2 |
1-196682905-T-A |
c.1377T>A |
p.F459L |
Missense |
10/22 |
- |
2 |
1-196682905-T-G |
c.1377T>G |
p.F459L |
Missense |
10/22 |
- |
2 |
1-196682906-A-G |
c.1378A>G |
p.I460V |
Missense |
10/22 |
- |
1 |
1-196682912-G-A |
c.1384G>A |
p.E462K |
Missense |
10/22 |
- |
2 |
1-196682912-TG-T |
c.1384del |
p.E462Nfs*8 |
Frameshift |
10/22 |
- |
1 |
1-196682924-ACA-TGT |
c.1396_1398inv |
p.T466C |
Missense |
10/22 |
- |
1 |
1-196682924-A-G |
c.1396A>G |
p.T466A |
Missense |
10/22 |
- |
1 |
1-196682925-C-T |
c.1397C>T |
p.T466I |
Missense |
10/22 |
- |
1 |
1-196682928-A-G |
c.1400A>G |
p.Y467C |
Missense |
10/22 |
- |
3 |
1-196682928-A-T |
c.1400A>T |
p.Y467F |
Missense |
10/22 |
- |
1 |
1-196682931-C-A |
c.1403C>A |
p.A468D |
Missense |
10/22 |
- |
2 |
1-196682931-C-T |
c.1403C>T |
p.A468V |
Missense |
10/22 |
- |
6 |
1-196682932-C-T |
c.1404C>T |
p.A468= |
Synonymous |
10/22 |
- |
2 |
1-196682936-A-T |
c.1408A>T |
p.K470* |
Nonsense |
10/22 |
- |
1 |
1-196682938-A-G |
c.1410A>G |
p.K470= |
Synonymous |
10/22 |
- |
5 |
1-196682939-G-A |
c.1411G>A |
p.E471K |
Missense |
10/22 |
- |
4 |
1-196682939-G-T |
c.1411G>T |
p.E471* |
Nonsense |
10/22 |
- |
1 |
1-196682945-G-A |
c.1417G>A |
p.A473T |
Missense |
10/22 |
- |
1 |
1-196682946-C-G |
c.1418C>G |
p.A473G |
Missense |
10/22 |
- |
1 |
1-196682946-C-T |
c.1418C>T |
p.A473V |
Missense |
10/22 |
- |
6 |
1-196682947-G-A |
c.1419G>A |
p.A473= |
Synonymous |
10/22 |
- |
95 |
1-196682947-G-C |
c.1419G>C |
p.A473= |
Synonymous |
10/22 |
- |
96 |
1-196682947-G-T |
c.1419G>T |
p.A473= |
Synonymous |
10/22 |
- |
96 |
1-196682947-GA-G |
c.1422del |
p.K474Nfs*6 |
Frameshift |
10/22 |
- |
1 |
1-196682950-A-C |
c.1422A>C |
p.K474N |
Missense |
10/22 |
- |
1 |
1-196682951-T-A |
c.1423T>A |
p.Y475N |
Missense |
10/22 |
- |
1 |
1-196682951-T-C |
c.1423T>C |
p.Y475H |
Missense |
10/22 |
- |
1 |
1-196682952-A-C |
c.1424A>C |
p.Y475S |
Missense |
10/22 |
- |
3 |
1-196682957-T-C |
c.1429T>C |
p.C477R |
Missense |
10/22 |
- |
1 |
1-196682957-TG-AC |
c.1429_1430delinsAC |
p.C477T |
Missense |
10/22 |
- |
1 |
1-196682957-TG-GC |
c.1429_1430delinsGC |
p.C477A |
Missense |
10/22 |
- |
1 |
1-196682958-G-A |
c.1430G>A |
p.C477Y |
Missense |
10/22 |
- |
3 |
1-196682959-C-T |
c.1431C>T |
p.C477= |
Synonymous |
10/22 |
- |
1 |
1-196682968-A-C |
c.1440A>C |
p.G480= |
Synonymous |
10/22 |
- |
1 |
1-196682968-A-G |
c.1440A>G |
p.G480= |
Synonymous |
10/22 |
- |
1 |
1-196682968-A-T |
c.1440A>T |
p.G480= |
Synonymous |
10/22 |
- |
1 |
1-196682970-A-T |
c.1442A>T |
p.Y481F |
Missense |
10/22 |
- |
1 |
1-196682972-G-A |
c.1444G>A |
p.V482I |
Missense |
10/22 |
- |
1 |
1-196682977-A-C |
c.1449A>C |
p.T483= |
Synonymous |
10/22 |
- |
1 |
1-196682979-C-T |
c.1451C>T |
p.A484V |
Missense |
10/22 |
- |
1 |
1-196682980-CA-C |
c.1452del |
p.D485Mfs*31 |
Frameshift |
10/22 |
- |
1 |
1-196682982-A-G |
c.1454A>G |
p.D485G |
Missense |
10/22 |
- |
3 |
1-196682984-G-T |
c.1456G>T |
p.G486C |
Missense |
10/22 |
- |
1 |
1-196682985-G-A |
c.1457G>A |
p.G486D |
Missense |
10/22 |
- |
3 |
1-196682985-GGTGA-G |
c.1457_1460del |
p.G486Efs*29 |
Frameshift |
10/22 |
- |
1 |
1-196682987-G-A |
c.1459G>A |
p.E487K |
Missense |
10/22 |
- |
2 |
1-196682990-A-G |
c.1462A>G |
p.T488A |
Missense |
10/22 |
- |
1 |
1-196682996-G-T |
c.1468G>T |
p.G490* |
Nonsense |
10/22 |
- |
1 |
1-196682997-G-A |
c.1469G>A |
p.G490E |
Missense |
10/22 |
- |
1 |
1-196682999-TCA-AAC |
c.1471_1473delinsAAC |
p.S491N |
Missense |
10/22 |
- |
1 |
1-196683000-C-T |
c.1472C>T |
p.S491L |
Missense |
10/22 |
- |
2 |
1-196683001-A-G |
c.1473A>G |
p.S491= |
Synonymous |
10/22 |
- |
1 |
1-196683002-A-C |
c.1474A>C |
p.I492L |
Missense |
10/22 |
- |
2 |
1-196683006-C-G |
c.1478C>G |
p.T493R |
Missense |
10/22 |
- |
2 |
1-196683006-C-T |
c.1478C>T |
p.T493I |
Missense |
10/22 |
- |
1 |
1-196683008-T-C |
c.1480T>C |
p.C494R |
Missense |
10/22 |
- |
1 |
1-196683008-TG-AC |
c.1480_1481delinsAC |
p.C494T |
Missense |
10/22 |
- |
1 |
1-196683010-T-A |
c.1482T>A |
p.C494* |
Nonsense |
10/22 |
- |
1 |
1-196683013-G-A |
c.1485G>A |
p.G495= |
Synonymous |
10/22 |
- |
6 |
1-196683017-G-C |
c.1489G>C |
p.D497H |
Missense |
10/22 |
- |
1 |
1-196683020-G-T |
c.1492G>T |
p.G498* |
Nonsense |
10/22 |
- |
1 |
1-196683021-G-A |
c.1493G>A |
p.G498E |
Missense |
10/22 |
- |
8 |
1-196683022-A-C |
c.1494A>C |
p.G498= |
Synonymous |
10/22 |
- |
3 |
1-196683022-A-G |
c.1494A>G |
p.G498= |
Synonymous |
10/22 |
- |
3 |
1-196683022-A-T |
c.1494A>T |
p.G498= |
Synonymous |
10/22 |
- |
4 |
1-196683027-C-A |
c.1499C>A |
p.S500* |
Nonsense |
10/22 |
- |
1 |
1-196683027-C-T |
c.1499C>T |
p.S500L |
Missense |
10/22 |
- |
1 |
1-196683032-C-T |
c.1504C>T |
p.Q502* |
Nonsense |
10/22 |
- |
4 |
1-196683035-C-G |
c.1507C>G |
p.P503A |
Missense |
10/22 |
- |
14 |
1-196683035-C-T |
c.1507C>T |
p.P503S |
Missense |
10/22 |
- |
5 |
1-196683036-C-A |
c.1508C>A |
p.P503H |
Missense |
10/22 |
- |
1 |
1-196683036-C-G |
c.1508C>G |
p.P503R |
Missense |
10/22 |
- |
1 |
1-196683039-C-A |
c.1511C>A |
p.T504K |
Missense |
10/22 |
- |
2 |
1-196683039-C-T |
c.1511C>T |
p.T504M |
Missense |
10/22 |
- |
1 |
1-196683041-TG-GC |
c.1513_1514delinsGC |
p.C505A |
Missense |
10/22 |
- |
1 |
1-196683044-A-AT |
c.1518dup |
p.K507* |
SpliceDonorInsertion |
10/22 |
- |
1 |
1-196683046-T-TC |
c.1518_1519insC |
p.K507Qfs*4 |
SpliceDonorInsertion |
10/22 |
- |
1 |
1-196683046-T-TG |
c.1518_1519insG |
p.K507Efs*4 |
SpliceDonorInsertion |
10/22 |
- |
1 |
1-196683048-G-T |
c.1519+1G>T |
- |
IntronicSNV |
- |
10/21 |
1 |
1-196683215-A-G |
c.1519+168A>G |
- |
IntronicSNV |
- |
10/21 |
1 |
1-196683274-A-G |
c.1519+227A>G |
- |
IntronicSNV |
- |
10/21 |
2 |
1-196683305-G-C |
c.1519+258G>C |
- |
IntronicSNV |
- |
10/21 |
1 |
1-196683800-G-T |
c.1519+753G>T |
- |
IntronicSNV |
- |
10/21 |
1 |
1-196684313-AT-A |
c.1520-406del |
- |
IntronicDeletion |
- |
10/21 |
1 |
1-196684574-C-T |
c.1520-149C>T |
- |
IntronicSNV |
- |
10/21 |
1 |
1-196684575-A-G |
c.1520-148A>G |
- |
IntronicSNV |
- |
10/21 |
2 |
1-196684625-G-T |
c.1520-98G>T |
- |
IntronicSNV |
- |
10/21 |
16 |
1-196684723-A-C |
c.1520A>C |
p.K507T |
Missense |
11/22 |
- |
1 |
1-196684722-GA-G |
c.1521del |
p.K507Nfs*9 |
Frameshift |
11/22 |
- |
1 |
1-196684726-C-A |
c.1523C>A |
p.S508Y |
Missense |
11/22 |
- |
1 |
1-196684728-TG-AC |
c.1525_1526delinsAC |
p.C509T |
Missense |
11/22 |
- |
1 |
1-196684729-G-A |
c.1526G>A |
p.C509Y |
Missense |
11/22 |
- |
1 |
1-196684731-G-C |
c.1528G>C |
p.D510H |
Missense |
11/22 |
- |
3 |
1-196684736-C-A |
c.1533C>A |
p.I511= |
Synonymous |
11/22 |
- |
1 |
1-196684736-C-T |
c.1533C>T |
p.I511= |
Synonymous |
11/22 |
- |
1 |
1-196684737-C-T |
c.1534C>T |
p.P512S |
Missense |
11/22 |
- |
2 |
1-196684738-C-T |
c.1535C>T |
p.P512L |
Missense |
11/22 |
- |
2 |
1-196684741-T-C |
c.1538T>C |
p.V513A |
Missense |
11/22 |
- |
1 |
1-196684742-A-C |
c.1539A>C |
p.V513= |
Synonymous |
11/22 |
- |
2 |
1-196684742-A-G |
c.1539A>G |
p.V513= |
Synonymous |
11/22 |
- |
2 |
1-196684742-A-T |
c.1539A>T |
p.V513= |
Synonymous |
11/22 |
- |
2 |
1-196684744-T-G |
c.1541T>G |
p.F514C |
Missense |
11/22 |
- |
2 |
1-196684748-G-A |
c.1545G>A |
p.M515I |
Missense |
11/22 |
- |
2 |
1-196684749-A-G |
c.1546A>G |
p.N516D |
Missense |
11/22 |
- |
1 |
1-196684750-A-G |
c.1547A>G |
p.N516S |
Missense |
11/22 |
- |
4 |
1-196684751-T-A |
c.1548T>A |
p.N516K |
Missense |
11/22 |
- |
21 |
1-196684751-T-C |
c.1548T>C |
p.N516= |
Synonymous |
11/22 |
- |
4 |
1-196684751-T-G |
c.1548T>G |
p.N516K |
Missense |
11/22 |
- |
9 |
1-196684753-C-A |
c.1550C>A |
p.A517D |
Missense |
11/22 |
- |
1 |
1-196684753-C-G |
c.1550C>G |
p.A517G |
Missense |
11/22 |
- |
1 |
1-196684753-C-T |
c.1550C>T |
p.A517V |
Missense |
11/22 |
- |
1 |
1-196684755-A-G |
c.1552A>G |
p.R518G |
Missense |
11/22 |
- |
1 |
1-196684756-G-A |
c.1553G>A |
p.R518K |
Missense |
11/22 |
- |
2 |
1-196684758-A-G |
c.1555A>G |
p.T519A |
Missense |
11/22 |
- |
1 |
1-196684759-C-A |
c.1556C>A |
p.T519N |
Missense |
11/22 |
- |
1 |
1-196684764-A-G |
c.1561A>G |
p.N521D |
Missense |
11/22 |
- |
1 |
1-196684760-T-TA |
c.1562dup |
p.N521Kfs*2 |
Frameshift |
11/22 |
- |
1 |
1-196684765-A-C |
c.1562A>C |
p.N521T |
Missense |
11/22 |
- |
1 |
1-196684766-T-C |
c.1563T>C |
p.N521= |
Synonymous |
11/22 |
- |
1 |
1-196684767-G-A |
c.1564G>A |
p.D522N |
Missense |
11/22 |
- |
3 |
1-196684767-G-T |
c.1564G>T |
p.D522Y |
Missense |
11/22 |
- |
1 |
1-196684768-A-G |
c.1565A>G |
p.D522G |
Missense |
11/22 |
- |
1 |
1-196684769-C-A |
c.1566C>A |
p.D522E |
Missense |
11/22 |
- |
8 |
1-196684769-C-G |
c.1566C>G |
p.D522E |
Missense |
11/22 |
- |
5 |
1-196684770-T-C |
c.1567T>C |
p.F523L |
Missense |
11/22 |
- |
1 |
1-196684772-C-A |
c.1569C>A |
p.F523L |
Missense |
11/22 |
- |
1 |
1-196684772-C-G |
c.1569C>G |
p.F523L |
Missense |
11/22 |
- |
1 |
1-196684771-T-A |
c.1568T>A |
p.F523Y |
Missense |
11/22 |
- |
1 |
1-196684773-A-G |
c.1570A>G |
p.T524A |
Missense |
11/22 |
- |
1 |
1-196684775-A-G |
c.1572A>G |
p.T524= |
Synonymous |
11/22 |
- |
1 |
1-196684777-G-A |
c.1574G>A |
p.W525* |
Nonsense |
11/22 |
- |
1 |
1-196684783-A-C |
c.1580A>C |
p.K527T |
Missense |
11/22 |
- |
2 |
1-196684784-G-C |
c.1581G>C |
p.K527N |
Missense |
11/22 |
- |
1 |
1-196684784-G-T |
c.1581G>T |
p.K527N |
Missense |
11/22 |
- |
2 |
1-196684788-AAT-TAA |
c.1585_1587delinsTAA |
p.N529* |
Nonsense |
11/22 |
- |
1 |
1-196684788-A-G |
c.1585A>G |
p.N529D |
Missense |
11/22 |
- |
1 |
1-196684791-G-T |
c.1588G>T |
p.D530Y |
Missense |
11/22 |
- |
1 |
1-196684792-A-T |
c.1589A>T |
p.D530V |
Missense |
11/22 |
- |
1 |
1-196684794-A-G |
c.1591A>G |
p.T531A |
Missense |
11/22 |
- |
1 |
1-196684798-T-C |
c.1595T>C |
p.L532S |
Missense |
11/22 |
- |
1 |
1-196684801-A-G |
c.1598A>G |
p.D533G |
Missense |
11/22 |
- |
2 |
1-196684804-A-T |
c.1601A>T |
p.Y534F |
Missense |
11/22 |
- |
1 |
1-196684806-G-T |
c.1603G>T |
p.E535* |
Nonsense |
11/22 |
- |
5 |
1-196684807-A-G |
c.1604A>G |
p.E535G |
Missense |
11/22 |
- |
1 |
1-196684809-T-C |
c.1606T>C |
p.C536R |
Missense |
11/22 |
- |
6 |
1-196684810-G-A |
c.1607G>A |
p.C536Y |
Missense |
11/22 |
- |
1 |
1-196684811-GCC-G |
c.1608_1609del |
p.C536* |
Frameshift |
11/22 |
- |
1 |
1-196684812-C-A |
c.1609C>A |
p.H537N |
Missense |
11/22 |
- |
1 |
1-196684814-T-A |
c.1611T>A |
p.H537Q |
Missense |
11/22 |
- |
3 |
1-196684814-T-G |
c.1611T>G |
p.H537Q |
Missense |
11/22 |
- |
1 |
1-196684815-G-A |
c.1612G>A |
p.D538N |
Missense |
11/22 |
- |
1 |
1-196684815-G-T |
c.1612G>T |
p.D538Y |
Missense |
11/22 |
- |
3 |
1-196684817-T-G |
c.1614T>G |
p.D538E |
Missense |
11/22 |
- |
1 |
1-196684818-G-C |
c.1615G>C |
p.G539R |
Missense |
11/22 |
- |
1 |
1-196684820-T-A |
c.1617T>A |
p.G539= |
Synonymous |
11/22 |
- |
1 |
1-196684820-T-C |
c.1617T>C |
p.G539= |
Synonymous |
11/22 |
- |
2 |
1-196684820-T-G |
c.1617T>G |
p.G539= |
Synonymous |
11/22 |
- |
1 |
1-196684824-G-A |
c.1621G>A |
p.E541K |
Missense |
11/22 |
- |
5 |
1-196684825-A-G |
c.1622A>G |
p.E541G |
Missense |
11/22 |
- |
1 |
1-196684826-A-C |
c.1623A>C |
p.E541D |
Missense |
11/22 |
- |
1 |
1-196684826-A-G |
c.1623A>G |
p.E541= |
Synonymous |
11/22 |
- |
1 |
1-196684828-G-A |
c.1625G>A |
p.S542N |
Missense |
11/22 |
- |
2 |
1-196684834-C-T |
c.1631C>T |
p.T544I |
Missense |
11/22 |
- |
1 |
1-196684837-G-A |
c.1634G>A |
p.G545E |
Missense |
11/22 |
- |
2 |
1-196684840-G-A |
c.1637G>A |
p.S546N |
Missense |
11/22 |
- |
2 |
1-196684839-A-C |
c.1636A>C |
p.S546R |
Missense |
11/22 |
- |
1 |
1-196684841-C-A |
c.1638C>A |
p.S546R |
Missense |
11/22 |
- |
1 |
1-196684841-C-G |
c.1638C>G |
p.S546R |
Missense |
11/22 |
- |
1 |
1-196684843-C-A |
c.1640C>A |
p.T547N |
Missense |
11/22 |
- |
4 |
1-196684843-C-G |
c.1640C>G |
p.T547S |
Missense |
11/22 |
- |
1 |
1-196684844-C-A |
c.1641C>A |
p.T547= |
Synonymous |
11/22 |
- |
1 |
1-196684844-C-T |
c.1641C>T |
p.T547= |
Synonymous |
11/22 |
- |
1 |
1-196684845-A-T |
c.1642A>T |
p.T548S |
Missense |
11/22 |
- |
5 |
1-196684846-C-G |
c.1643C>G |
p.T548S |
Missense |
11/22 |
- |
8 |
1-196684852-C-T |
c.1649C>T |
p.S550F |
Missense |
11/22 |
- |
1 |
1-196684854-A-G |
c.1651A>G |
p.I551V |
Missense |
11/22 |
- |
1 |
1-196684855-T-C |
c.1652T>C |
p.I551T |
Missense |
11/22 |
- |
8 |
1-196684857-G-A |
c.1654G>A |
p.V552M |
Missense |
11/22 |
- |
1 |
1-196684857-G-C |
c.1654G>C |
p.V552L |
Missense |
11/22 |
- |
1 |
1-196684857-GTG-ATC |
c.1654_1656delinsATC |
p.V552I |
Missense |
11/22 |
- |
1 |
1-196684858-T-A |
c.1655T>A |
p.V552E |
Missense |
11/22 |
- |
1 |
1-196684859-G-A |
c.1656G>A |
p.V552= |
Synonymous |
11/22 |
- |
1 |
1-196684859-G-C |
c.1656G>C |
p.V552= |
Synonymous |
11/22 |
- |
1 |
1-196684863-G-A |
c.1660G>A |
p.G554S |
Missense |
11/22 |
- |
5 |
1-196684863-G-T |
c.1660G>T |
p.G554C |
Missense |
11/22 |
- |
1 |
1-196684865-T-C |
c.1662T>C |
p.G554= |
Synonymous |
11/22 |
- |
1 |
1-196684866-T-G |
c.1663T>G |
p.Y555D |
Missense |
11/22 |
- |
1 |
1-196684867-A-T |
c.1664A>T |
p.Y555F |
Missense |
11/22 |
- |
1 |
1-196684870-A-G |
c.1667A>G |
p.N556S |
Missense |
11/22 |
- |
1 |
1-196684870-A-T |
c.1667A>T |
p.N556I |
Missense |
11/22 |
- |
2 |
1-196684870-ATGG-A |
c.1669_1671del |
p.G557del |
InFrameDeletion |
11/22 |
- |
2 |
1-196684872-G-A |
c.1669G>A |
p.G557S |
Missense |
11/22 |
- |
1 |
1-196684872-G-C |
c.1669G>C |
p.G557R |
Missense |
11/22 |
- |
6 |
1-196684873-G-T |
c.1670G>T |
p.G557V |
Missense |
11/22 |
- |
2 |
1-196684881-G-A |
c.1678G>A |
p.D560N |
Missense |
11/22 |
- |
2 |
1-196684882-A-G |
c.1679A>G |
p.D560G |
Missense |
11/22 |
- |
3 |
1-196684882-A-T |
c.1679A>T |
p.D560V |
Missense |
11/22 |
- |
1 |
1-196684884-T-A |
c.1681T>A |
p.L561I |
Missense |
11/22 |
- |
1 |
1-196684888-C-A |
c.1685C>A |
p.P562H |
Missense |
11/22 |
- |
1 |
1-196684888-C-T |
c.1685C>T |
p.P562L |
Missense |
11/22 |
- |
1 |
1-196684889-C-T |
c.1686C>T |
p.P562= |
Synonymous |
11/22 |
- |
4 |
1-196684891-T-C |
c.1688T>C |
p.I563T |
Missense |
11/22 |
- |
4 |
1-196684894-G-T |
c.1691G>T |
p.C564F |
Missense |
11/22 |
- |
1 |
1-196684895-T-C |
c.1692T>C |
p.C564= |
Synonymous |
11/22 |
- |
1 |
1-196684897-A-G |
c.1694A>G |
p.Y565C |
Missense |
11/22 |
- |
1 |
1-196684899-G-A |
c.1696G>A |
p.E566K |
Missense |
11/22 |
- |
2 |
1-196686652-A-G |
c.1696+1753A>G |
- |
IntronicSNV |
- |
11/21 |
4 |
1-196686652-A-T |
c.1696+1753A>T |
- |
IntronicSNV |
- |
11/21 |
4 |
1-196686918-G-A |
c.1696+2019G>A |
- |
IntronicSNV |
- |
11/21 |
79 |
1-196687329-A-T |
c.1696+2430A>T |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196687515-G-A |
c.1696+2616G>A |
- |
IntronicSNV |
- |
11/21 |
7 |
1-196687730-A-C |
c.1696+2831A>C |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196687730-A-G |
c.1696+2831A>G |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196690250-A-C |
c.1697-4001A>C |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196690250-A-T |
c.1697-4001A>T |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196691464-A-G |
c.1697-2787A>G |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196691625-C-A |
c.1697-2626C>A |
- |
IntronicSNV |
- |
11/21 |
2 |
1-196691625-C-T |
c.1697-2626C>T |
- |
IntronicSNV |
- |
11/21 |
2 |
1-196692148-C-T |
c.1697-2103C>T |
- |
IntronicSNV |
- |
11/21 |
2 |
1-196692378-T-C |
c.1697-1873T>C |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196692470-C-A |
c.1697-1781C>A |
- |
IntronicSNV |
- |
11/21 |
7 |
1-196692672-A-G |
c.1697-1579A>G |
- |
IntronicSNV |
- |
11/21 |
2 |
1-196693088-G-A |
c.1697-1163G>A |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196693088-G-T |
c.1697-1163G>T |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196693451-A-G |
c.1697-800A>G |
- |
IntronicSNV |
- |
11/21 |
7 |
1-196694236-T-C |
c.1697-15T>C |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196694237-T-C |
c.1697-14T>C |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196694238-T-C |
c.1697-13T>C |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196694240-C-A |
c.1697-11C>A |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196694240-C-T |
c.1697-11C>T |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196694241-C-T |
c.1697-10C>T |
- |
IntronicSNV |
- |
11/21 |
1 |
1-196694251-A-C |
c.1697A>C |
p.E566A |
Missense |
12/22 |
- |
8 |
1-196694252-A-C |
c.1698A>C |
p.E566D |
Missense |
12/22 |
- |
3 |
1-196694252-A-T |
c.1698A>T |
p.E566D |
Missense |
12/22 |
- |
5 |
1-196694253-A-G |
c.1699A>G |
p.R567G |
Missense |
12/22 |
- |
6 |
1-196694253-AG-CA |
c.1699_1700delinsCA |
p.R567Q |
Missense |
12/22 |
- |
1 |
1-196694254-G-A |
c.1700G>A |
p.R567K |
Missense |
12/22 |
- |
1 |
1-196694254-G-C |
c.1700G>C |
p.R567T |
Missense |
12/22 |
- |
1 |
1-196694254-G-T |
c.1700G>T |
p.R567I |
Missense |
12/22 |
- |
1 |
1-196694253-A-C |
c.1699A>C |
p.R567= |
Synonymous |
12/22 |
- |
1 |
1-196694255-A-G |
c.1701A>G |
p.R567= |
Synonymous |
12/22 |
- |
1 |
1-196694256-G-A |
c.1702G>A |
p.E568K |
Missense |
12/22 |
- |
2 |
1-196694259-T-C |
c.1705T>C |
p.C569R |
Missense |
12/22 |
- |
1 |
1-196694261-C-T |
c.1707C>T |
p.C569= |
Synonymous |
12/22 |
- |
2 |
1-196694262-G-A |
c.1708G>A |
p.E570K |
Missense |
12/22 |
- |
9 |
1-196694265-C-T |
c.1711C>T |
p.L571F |
Missense |
12/22 |
- |
1 |
1-196694268-C-T |
c.1714C>T |
p.P572S |
Missense |
12/22 |
- |
8 |
1-196694271-A-C |
c.1717A>C |
p.K573Q |
Missense |
12/22 |
- |
1 |
1-196694275-T-C |
c.1721T>C |
p.I574T |
Missense |
12/22 |
- |
1 |
1-196694278-A-T |
c.1724A>T |
p.D575V |
Missense |
12/22 |
- |
1 |
1-196694280-G-C |
c.1726G>C |
p.V576L |
Missense |
12/22 |
- |
1 |
1-196694280-GTA-ATG |
c.1726_1728delinsATG |
p.V576M |
Missense |
12/22 |
- |
1 |
1-196694289-G-A |
c.1735G>A |
p.V579I |
Missense |
12/22 |
- |
1 |
1-196694289-G-T |
c.1735G>T |
p.V579F |
Missense |
12/22 |
- |
1 |
1-196694290-T-C |
c.1736T>C |
p.V579A |
Missense |
12/22 |
- |
2 |
1-196694292-C-T |
c.1738C>T |
p.P580S |
Missense |
12/22 |
- |
6 |
1-196694293-C-T |
c.1739C>T |
p.P580L |
Missense |
12/22 |
- |
2 |
1-196694295-G-A |
c.1741G>A |
p.D581N |
Missense |
12/22 |
- |
4 |
1-196694298-C-T |
c.1744C>T |
p.R582C |
Missense |
12/22 |
- |
12 |
1-196694299-G-A |
c.1745G>A |
p.R582H |
Missense |
12/22 |
- |
7 |
1-196694299-G-T |
c.1745G>T |
p.R582L |
Missense |
12/22 |
- |
1 |
1-196694302-A-C |
c.1748A>C |
p.K583T |
Missense |
12/22 |
- |
1 |
1-196694302-A-G |
c.1748A>G |
p.K583R |
Missense |
12/22 |
- |
1 |
1-196694303-G-C |
c.1749G>C |
p.K583N |
Missense |
12/22 |
- |
2 |
1-196694303-G-T |
c.1749G>T |
p.K583N |
Missense |
12/22 |
- |
1 |
1-196694304-A-G |
c.1750A>G |
p.K584E |
Missense |
12/22 |
- |
1 |
1-196694304-A-T |
c.1750A>T |
p.K584* |
Nonsense |
12/22 |
- |
1 |
1-196694307-G-A |
c.1753G>A |
p.D585N |
Missense |
12/22 |
- |
8 |
1-196694307-G-T |
c.1753G>T |
p.D585Y |
Missense |
12/22 |
- |
1 |
1-196694308-A-C |
c.1754A>C |
p.D585A |
Missense |
12/22 |
- |
1 |
1-196694310-C-T |
c.1756C>T |
p.Q586* |
Nonsense |
12/22 |
- |
8 |
1-196694312-G-C |
c.1758G>C |
p.Q586H |
Missense |
12/22 |
- |
1 |
1-196694313-T-C |
c.1759T>C |
p.Y587H |
Missense |
12/22 |
- |
1 |
1-196694314-A-G |
c.1760A>G |
p.Y587C |
Missense |
12/22 |
- |
1 |
1-196694316-A-T |
c.1762A>T |
p.K588* |
Nonsense |
12/22 |
- |
3 |
1-196694319-G-T |
c.1765G>T |
p.V589F |
Missense |
12/22 |
- |
2 |
1-196694321-T-A |
c.1767T>A |
p.V589= |
Synonymous |
12/22 |
- |
1 |
1-196694326-A-T |
c.1772A>T |
p.E591V |
Missense |
12/22 |
- |
2 |
1-196694328-G-A |
c.1774G>A |
p.V592M |
Missense |
12/22 |
- |
1 |
1-196694328-G-C |
c.1774G>C |
p.V592L |
Missense |
12/22 |
- |
1 |
1-196694328-G-T |
c.1774G>T |
p.V592L |
Missense |
12/22 |
- |
1 |
1-196694332-T-A |
c.1778T>A |
p.L593* |
Nonsense |
12/22 |
- |
4 |
1-196694339-C-T |
c.1785C>T |
p.F595= |
Synonymous |
12/22 |
- |
5 |
1-196694340-TC-AT |
c.1786_1787delinsAT |
p.S596I |
Missense |
12/22 |
- |
1 |
1-196694338-TCTC-T |
c.1787_1789del |
p.S596del |
InFrameDeletion |
12/22 |
- |
1 |
1-196694341-C-A |
c.1787C>A |
p.S596Y |
Missense |
12/22 |
- |
2 |
1-196694341-C-G |
c.1787C>G |
p.S596C |
Missense |
12/22 |
- |
1 |
1-196694341-C-T |
c.1787C>T |
p.S596F |
Missense |
12/22 |
- |
8 |
1-196694343-T-C |
c.1789T>C |
p.C597R |
Missense |
12/22 |
- |
2 |
1-196694345-C-A |
c.1791C>A |
p.C597* |
Nonsense |
12/22 |
- |
1 |
1-196694345-C-T |
c.1791C>T |
p.C597= |
Synonymous |
12/22 |
- |
1 |
1-196694346-A-C |
c.1792A>C |
p.K598Q |
Missense |
12/22 |
- |
1 |
1-196694347-A-C |
c.1793A>C |
p.K598T |
Missense |
12/22 |
- |
1 |
1-196694348-A-G |
c.1794A>G |
p.K598= |
Synonymous |
12/22 |
- |
1 |
1-196694349-C-G |
c.1795C>G |
p.P599A |
Missense |
12/22 |
- |
1 |
1-196694351-A-C |
c.1797A>C |
p.P599= |
Synonymous |
12/22 |
- |
1 |
1-196694351-A-G |
c.1797A>G |
p.P599= |
Synonymous |
12/22 |
- |
1 |
1-196694351-A-T |
c.1797A>T |
p.P599= |
Synonymous |
12/22 |
- |
1 |
1-196694352-G-A |
c.1798G>A |
p.G600R |
Missense |
12/22 |
- |
5 |
1-196694353-G-A |
c.1799G>A |
p.G600E |
Missense |
12/22 |
- |
7 |
1-196694353-G-C |
c.1799G>C |
p.G600A |
Missense |
12/22 |
- |
1 |
1-196694358-ACA-TGT |
c.1804_1806inv |
p.T602C |
Missense |
12/22 |
- |
1 |
1-196694367-G-A |
c.1813G>A |
p.G605R |
Missense |
12/22 |
- |
2 |
1-196694367-G-C |
c.1813G>C |
p.G605R |
Missense |
12/22 |
- |
3 |
1-196694368-G-C |
c.1814G>C |
p.G605A |
Missense |
12/22 |
- |
1 |
1-196694370-C-T |
c.1816C>T |
p.P606S |
Missense |
12/22 |
- |
1 |
1-196694371-C-A |
c.1817C>A |
p.P606H |
Missense |
12/22 |
- |
1 |
1-196694373-A-G |
c.1819A>G |
p.N607D |
Missense |
12/22 |
- |
1 |
1-196694375-T-C |
c.1821T>C |
p.N607= |
Synonymous |
12/22 |
- |
1 |
1-196694377-C-A |
c.1823C>A |
p.S608Y |
Missense |
12/22 |
- |
8 |
1-196694378-C-T |
c.1824C>T |
p.S608= |
Synonymous |
12/22 |
- |
1 |
1-196694379-G-A |
c.1825G>A |
p.V609I |
Missense |
12/22 |
- |
11 |
1-196694379-G-T |
c.1825G>T |
p.V609F |
Missense |
12/22 |
- |
1 |
1-196694386-G-A |
c.1832G>A |
p.C611Y |
Missense |
12/22 |
- |
2 |
1-196694394-T-C |
c.1840T>C |
p.F614L |
Missense |
12/22 |
- |
1 |
1-196694396-T-A |
c.1842T>A |
p.F614L |
Missense |
12/22 |
- |
1 |
1-196694396-T-G |
c.1842T>G |
p.F614L |
Missense |
12/22 |
- |
1 |
1-196694395-T-C |
c.1841T>C |
p.F614S |
Missense |
12/22 |
- |
2 |
1-196694397-G-A |
c.1843G>A |
p.G615R |
Missense |
12/22 |
- |
7 |
1-196694397-G-C |
c.1843G>C |
p.G615R |
Missense |
12/22 |
- |
1 |
1-196694401-T-A |
c.1847T>A |
p.L616* |
Nonsense |
12/22 |
- |
1 |
1-196694406-C-A |
c.1852C>A |
p.P618T |
Missense |
12/22 |
- |
5 |
1-196694406-C-G |
c.1852C>G |
p.P618A |
Missense |
12/22 |
- |
1 |
1-196694406-C-T |
c.1852C>T |
p.P618S |
Missense |
12/22 |
- |
4 |
1-196694410-A-G |
c.1856A>G |
p.D619G |
Missense |
12/22 |
- |
2 |
1-196694414-C-T |
c.1860C>T |
p.L620= |
Synonymous |
12/22 |
- |
3 |
1-196694415-C-A |
c.1861C>A |
p.P621T |
Missense |
12/22 |
- |
2 |
1-196694415-CCA-TAT |
c.1861_1863delinsTAT |
p.P621Y |
Missense |
12/22 |
- |
1 |
1-196694418-A-C |
c.1864A>C |
p.I622L |
Missense |
12/22 |
- |
1 |
1-196694418-A-G |
c.1864A>G |
p.I622V |
Missense |
12/22 |
- |
2 |
1-196694418-A-T |
c.1864A>T |
p.I622L |
Missense |
12/22 |
- |
1 |
1-196694422-G-C |
c.1868G>C |
p.C623S |
Missense |
12/22 |
- |
1 |
1-196694427-G-A |
c.1873G>A |
p.E625K |
Missense |
12/22 |
- |
1 |
1-196694427-G-T |
c.1873G>T |
p.E625* |
Nonsense |
12/22 |
- |
6 |
1-196694428-G-A |
c.1873+1G>A |
- |
IntronicSNV |
- |
12/21 |
1 |
1-196695161-C-T |
c.1874-439C>T |
- |
IntronicSNV |
- |
12/21 |
13 |
1-196695602-C-T |
c.1876C>T |
p.Q626* |
Nonsense |
13/22 |
- |
1 |
1-196695603-A-G |
c.1877A>G |
p.Q626R |
Missense |
13/22 |
- |
1 |
1-196695605-AG-A |
c.1879del |
p.V627Yfs*38 |
Frameshift |
13/22 |
- |
1 |
1-196695605-G-C |
c.1879G>C |
p.V627L |
Missense |
13/22 |
- |
1 |
1-196695607-A-G |
c.1881A>G |
p.V627= |
Synonymous |
13/22 |
- |
1 |
1-196695609-A-G |
c.1883A>G |
p.Q628R |
Missense |
13/22 |
- |
1 |
1-196695611-AT-A |
c.1885del |
p.S629Hfs*36 |
Frameshift |
13/22 |
- |
1 |
1-196695612-C-T |
c.1886C>T |
p.S629L |
Missense |
13/22 |
- |
3 |
1-196695614-TG-GC |
c.1888_1889delinsGC |
p.C630A |
Missense |
13/22 |
- |
1 |
1-196695616-T-G |
c.1890T>G |
p.C630W |
Missense |
13/22 |
- |
3 |
1-196695618-G-C |
c.1892G>C |
p.G631A |
Missense |
13/22 |
- |
1 |
1-196695619-T-A |
c.1893T>A |
p.G631= |
Synonymous |
13/22 |
- |
1 |
1-196695619-T-C |
c.1893T>C |
p.G631= |
Synonymous |
13/22 |
- |
1 |
1-196695619-T-G |
c.1893T>G |
p.G631= |
Synonymous |
13/22 |
- |
1 |
1-196695620-C-T |
c.1894C>T |
p.P632S |
Missense |
13/22 |
- |
1 |
1-196695621-C-T |
c.1895C>T |
p.P632L |
Missense |
13/22 |
- |
6 |
1-196695626-C-T |
c.1900C>T |
p.P634S |
Missense |
13/22 |
- |
4 |
1-196695635-C-T |
c.1909C>T |
p.L637F |
Missense |
13/22 |
- |
1 |
1-196695636-T-A |
c.1910T>A |
p.L637H |
Missense |
13/22 |
- |
1 |
1-196695637-C-A |
c.1911C>A |
p.L637= |
Synonymous |
13/22 |
- |
1 |
1-196695637-C-T |
c.1911C>T |
p.L637= |
Synonymous |
13/22 |
- |
1 |
1-196695639-A-G |
c.1913A>G |
p.N638S |
Missense |
13/22 |
- |
1 |
1-196695642-G-T |
c.1916G>T |
p.G639V |
Missense |
13/22 |
- |
3 |
1-196695643-G-A |
c.1917G>A |
p.G639= |
Synonymous |
13/22 |
- |
3 |
1-196695643-G-C |
c.1917G>C |
p.G639= |
Synonymous |
13/22 |
- |
1 |
1-196695643-G-T |
c.1917G>T |
p.G639= |
Synonymous |
13/22 |
- |
1 |
1-196695646-T-A |
c.1920T>A |
p.N640K |
Missense |
13/22 |
- |
3 |
1-196695646-T-G |
c.1920T>G |
p.N640K |
Missense |
13/22 |
- |
3 |
1-196695647-G-C |
c.1921G>C |
p.V641L |
Missense |
13/22 |
- |
1 |
1-196695648-T-A |
c.1922T>A |
p.V641D |
Missense |
13/22 |
- |
1 |
1-196695648-T-C |
c.1922T>C |
p.V641A |
Missense |
13/22 |
- |
4 |
1-196695652-G-A |
c.1926G>A |
p.K642= |
Synonymous |
13/22 |
- |
3 |
1-196695652-G-GT |
c.1926_1927insT |
p.E643* |
Nonsense |
13/22 |
- |
1 |
1-196695653-G-A |
c.1927G>A |
p.E643K |
Missense |
13/22 |
- |
9 |
1-196695654-A-G |
c.1928A>G |
p.E643G |
Missense |
13/22 |
- |
1 |
1-196695653-GA-G |
c.1933del |
p.T645Rfs*20 |
Frameshift |
13/22 |
- |
1 |
1-196695653-G-GA |
c.1933dup |
p.T645Nfs*9 |
Frameshift |
13/22 |
- |
4 |
1-196695659-A-G |
c.1933A>G |
p.T645A |
Missense |
13/22 |
- |
1 |
1-196695660-AC-A |
c.1934del |
p.T645Rfs*20 |
Frameshift |
13/22 |
- |
1 |
1-196695660-C-G |
c.1934C>G |
p.T645R |
Missense |
13/22 |
- |
1 |
1-196695660-C-T |
c.1934C>T |
p.T645M |
Missense |
13/22 |
- |
1 |
1-196695661-G-A |
c.1935G>A |
p.T645= |
Synonymous |
13/22 |
- |
6 |
1-196695661-G-C |
c.1935G>C |
p.T645= |
Synonymous |
13/22 |
- |
2 |
1-196695661-G-T |
c.1935G>T |
p.T645= |
Synonymous |
13/22 |
- |
4 |
1-196695668-G-C |
c.1942G>C |
p.E648Q |
Missense |
13/22 |
- |
2 |
1-196695669-A-G |
c.1943A>G |
p.E648G |
Missense |
13/22 |
- |
1 |
1-196695675-G-A |
c.1949G>A |
p.G650E |
Missense |
13/22 |
- |
5 |
1-196695675-G-T |
c.1949G>T |
p.G650V |
Missense |
13/22 |
- |
9 |
1-196695677-C-T |
c.1951C>T |
p.H651Y |
Missense |
13/22 |
- |
2 |
1-196695683-G-A |
c.1957G>A |
p.E653K |
Missense |
13/22 |
- |
2 |
1-196695687-T-G |
c.1961T>G |
p.V654G |
Missense |
13/22 |
- |
1 |
1-196695688-G-A |
c.1962G>A |
p.V654= |
Synonymous |
13/22 |
- |
1 |
1-196695691-G-T |
c.1965G>T |
p.V655= |
Synonymous |
13/22 |
- |
1 |
1-196695692-G-A |
c.1966G>A |
p.E656K |
Missense |
13/22 |
- |
1 |
1-196695702-G-T |
c.1976G>T |
p.C659F |
Missense |
13/22 |
- |
4 |
1-196695705-A-G |
c.1979A>G |
p.N660S |
Missense |
13/22 |
- |
1 |
1-196695708-C-T |
c.1982C>T |
p.P661L |
Missense |
13/22 |
- |
3 |
1-196695710-A-G |
c.1984A>G |
p.R662G |
Missense |
13/22 |
- |
1 |
1-196695711-G-C |
c.1985G>C |
p.R662T |
Missense |
13/22 |
- |
1 |
1-196695711-G-T |
c.1985G>T |
p.R662I |
Missense |
13/22 |
- |
1 |
1-196695715-T-C |
c.1989T>C |
p.F663= |
Synonymous |
13/22 |
- |
2 |
1-196695720-T-C |
c.1994T>C |
p.M665T |
Missense |
13/22 |
- |
1 |
1-196695721-G-A |
c.1995G>A |
p.M665I |
Missense |
13/22 |
- |
6 |
1-196695721-G-C |
c.1995G>C |
p.M665I |
Missense |
13/22 |
- |
3 |
1-196695721-G-T |
c.1995G>T |
p.M665I |
Missense |
13/22 |
- |
3 |
1-196695721-G-GA |
c.1997dup |
p.P668Tfs*2 |
Frameshift |
13/22 |
- |
1 |
1-196695724-G-A |
c.1998G>A |
p.K666= |
Synonymous |
13/22 |
- |
2 |
1-196695724-G-C |
c.1998G>C |
p.K666N |
Missense |
13/22 |
- |
1 |
1-196695724-G-T |
c.1998G>T |
p.K666N |
Missense |
13/22 |
- |
2 |
1-196695725-G-C |
c.1999G>C |
p.G667R |
Missense |
13/22 |
- |
1 |
1-196695726-G-C |
c.2000G>C |
p.G667A |
Missense |
13/22 |
- |
1 |
1-196695728-C-T |
c.2002C>T |
p.P668S |
Missense |
13/22 |
- |
1 |
1-196695729-C-T |
c.2003C>T |
p.P668L |
Missense |
13/22 |
- |
1 |
1-196695734-A-G |
c.2008A>G |
p.K670E |
Missense |
13/22 |
- |
1 |
1-196695735-A-G |
c.2009A>G |
p.K670R |
Missense |
13/22 |
- |
1 |
1-196695736-A-C |
c.2010A>C |
p.K670N |
Missense |
13/22 |
- |
4 |
1-196695736-A-T |
c.2010A>T |
p.K670N |
Missense |
13/22 |
- |
4 |
1-196695740-C-A |
c.2014C>A |
p.Q672K |
Missense |
13/22 |
- |
3 |
1-196695740-C-T |
c.2014C>T |
p.Q672* |
Nonsense |
13/22 |
- |
7 |
1-196695742-A-G |
c.2016A>G |
p.Q672= |
Synonymous |
13/22 |
- |
89 |
1-196695743-T-A |
c.2017T>A |
p.C673S |
Missense |
13/22 |
- |
4 |
1-196695743-T-C |
c.2017T>C |
p.C673R |
Missense |
13/22 |
- |
1 |
1-196695744-G-C |
c.2018G>C |
p.C673S |
Missense |
13/22 |
- |
4 |
1-196695744-G-A |
c.2018G>A |
p.C673Y |
Missense |
13/22 |
- |
6 |
1-196695748-T-A |
c.2022T>A |
p.V674= |
Synonymous |
13/22 |
- |
1 |
1-196695748-T-C |
c.2022T>C |
p.V674= |
Synonymous |
13/22 |
- |
1 |
1-196695748-T-G |
c.2022T>G |
p.V674= |
Synonymous |
13/22 |
- |
1 |
1-196695755-G-A |
c.2029G>A |
p.E677K |
Missense |
13/22 |
- |
9 |
1-196695755-G-C |
c.2029G>C |
p.E677Q |
Missense |
13/22 |
- |
1 |
1-196695756-A-G |
c.2030A>G |
p.E677G |
Missense |
13/22 |
- |
1 |
1-196695760-G-C |
c.2034G>C |
p.W678C |
Missense |
13/22 |
- |
1 |
1-196695760-G-T |
c.2034G>T |
p.W678C |
Missense |
13/22 |
- |
3 |
1-196695761-A-C |
c.2035A>C |
p.T679P |
Missense |
13/22 |
- |
3 |
1-196695762-C-A |
c.2036C>A |
p.T679K |
Missense |
13/22 |
- |
1 |
1-196695766-T-C |
c.2040T>C |
p.T680= |
Synonymous |
13/22 |
- |
2 |
1-196695769-A-C |
c.2043A>C |
p.L681F |
Missense |
13/22 |
- |
1 |
1-196695769-A-T |
c.2043A>T |
p.L681F |
Missense |
13/22 |
- |
1 |
1-196695773-G-A |
c.2047G>A |
p.V683M |
Missense |
13/22 |
- |
1 |
1-196695773-G-T |
c.2047G>T |
p.V683L |
Missense |
13/22 |
- |
2 |
1-196695776-T-G |
c.2050T>G |
p.C684G |
Missense |
13/22 |
- |
1 |
1-196695776-TG-GC |
c.2050_2051delinsGC |
p.C684A |
Missense |
13/22 |
- |
1 |
1-196695782-G-A |
c.2056G>A |
p.V686M |
Missense |
13/22 |
- |
1 |
1-196695783-G-A |
c.2056+1G>A |
- |
IntronicSNV |
- |
13/21 |
1 |
1-196695892-G-A |
c.2058G>A |
p.V686= |
Synonymous |
14/22 |
- |
1 |
1-196695893-G-A |
c.2059G>A |
p.E687K |
Missense |
14/22 |
- |
2 |
1-196695895-G-A |
c.2061G>A |
p.E687= |
Synonymous |
14/22 |
- |
2 |
1-196695896-G-A |
c.2062G>A |
p.E688K |
Missense |
14/22 |
- |
6 |
1-196695896-G-T |
c.2062G>T |
p.E688* |
Nonsense |
14/22 |
- |
1 |
1-196695900-G-A |
c.2066G>A |
p.S689N |
Missense |
14/22 |
- |
1 |
1-196695903-C-A |
c.2069C>A |
p.T690N |
Missense |
14/22 |
- |
1 |
1-196695903-CC-TT |
c.2069_2070delinsTT |
p.T690I |
Missense |
14/22 |
- |
1 |
1-196695903-C-T |
c.2069C>T |
p.T690I |
Missense |
14/22 |
- |
4 |
1-196695904-C-A |
c.2070C>A |
p.T690= |
Synonymous |
14/22 |
- |
2 |
1-196695904-C-T |
c.2070C>T |
p.T690= |
Synonymous |
14/22 |
- |
1 |
1-196695906-G-A |
c.2072G>A |
p.C691Y |
Missense |
14/22 |
- |
2 |
1-196695907-T-C |
c.2073T>C |
p.C691= |
Synonymous |
14/22 |
- |
1 |
1-196695909-G-C |
c.2075G>C |
p.G692A |
Missense |
14/22 |
- |
1 |
1-196695911-G-T |
c.2077G>T |
p.D693Y |
Missense |
14/22 |
- |
2 |
1-196695912-A-G |
c.2078A>G |
p.D693G |
Missense |
14/22 |
- |
1 |
1-196695916-A-G |
c.2082A>G |
p.I694M |
Missense |
14/22 |
- |
2 |
1-196695917-C-T |
c.2083C>T |
p.P695S |
Missense |
14/22 |
- |
2 |
1-196695918-C-A |
c.2084C>A |
p.P695H |
Missense |
14/22 |
- |
3 |
1-196695919-T-G |
c.2085T>G |
p.P695= |
Synonymous |
14/22 |
- |
1 |
1-196695920-G-A |
c.2086G>A |
p.E696K |
Missense |
14/22 |
- |
7 |
1-196695921-A-G |
c.2087A>G |
p.E696G |
Missense |
14/22 |
- |
1 |
1-196695922-A-C |
c.2088A>C |
p.E696D |
Missense |
14/22 |
- |
2 |
1-196695922-A-T |
c.2088A>T |
p.E696D |
Missense |
14/22 |
- |
1 |
1-196695923-C-T |
c.2089C>T |
p.L697F |
Missense |
14/22 |
- |
2 |
1-196695926-G-T |
c.2092G>T |
p.E698* |
Nonsense |
14/22 |
- |
2 |
1-196695927-A-C |
c.2093A>C |
p.E698A |
Missense |
14/22 |
- |
1 |
1-196695933-G-C |
c.2099G>C |
p.G700A |
Missense |
14/22 |
- |
1 |
1-196695936-G-T |
c.2102G>T |
p.W701L |
Missense |
14/22 |
- |
4 |
1-196695937-G-A |
c.2103G>A |
p.W701* |
Nonsense |
14/22 |
- |
5 |
1-196695938-G-A |
c.2104G>A |
p.A702T |
Missense |
14/22 |
- |
4 |
1-196695938-G-T |
c.2104G>T |
p.A702S |
Missense |
14/22 |
- |
1 |
1-196695940-C-A |
c.2106C>A |
p.A702= |
Synonymous |
14/22 |
- |
1 |
1-196695940-C-G |
c.2106C>G |
p.A702= |
Synonymous |
14/22 |
- |
1 |
1-196695940-C-T |
c.2106C>T |
p.A702= |
Synonymous |
14/22 |
- |
2 |
1-196695941-C-A |
c.2107C>A |
p.Q703K |
Missense |
14/22 |
- |
3 |
1-196695941-C-T |
c.2107C>T |
p.Q703* |
Nonsense |
14/22 |
- |
1 |
1-196695948-C-T |
c.2114C>T |
p.S705F |
Missense |
14/22 |
- |
11 |
1-196695951-C-T |
c.2117C>T |
p.S706F |
Missense |
14/22 |
- |
7 |
1-196695952-C-A |
c.2118C>A |
p.S706= |
Synonymous |
14/22 |
- |
8 |
1-196695952-C-G |
c.2118C>G |
p.S706= |
Synonymous |
14/22 |
- |
6 |
1-196695952-C-T |
c.2118C>T |
p.S706= |
Synonymous |
14/22 |
- |
9 |
1-196695953-C-T |
c.2119C>T |
p.P707S |
Missense |
14/22 |
- |
1 |
1-196695950-TC-T |
c.2120del |
p.P707Lfs*19 |
Frameshift |
14/22 |
- |
1 |
1-196695954-C-A |
c.2120C>A |
p.P707H |
Missense |
14/22 |
- |
1 |
1-196695954-C-T |
c.2120C>T |
p.P707L |
Missense |
14/22 |
- |
2 |
1-196695956-C-T |
c.2122C>T |
p.P708S |
Missense |
14/22 |
- |
4 |
1-196695957-C-T |
c.2123C>T |
p.P708L |
Missense |
14/22 |
- |
2 |
1-196695957-CTTA-C |
c.2127_2129del |
p.Y711del |
InFrameDeletion |
14/22 |
- |
1 |
1-196695962-T-C |
c.2128T>C |
p.Y710H |
Missense |
14/22 |
- |
1 |
1-196695963-A-G |
c.2129A>G |
p.Y710C |
Missense |
14/22 |
- |
1 |
1-196695966-A-G |
c.2132A>G |
p.Y711C |
Missense |
14/22 |
- |
1 |
1-196695968-G-A |
c.2134G>A |
p.G712R |
Missense |
14/22 |
- |
1 |
1-196695968-G-C |
c.2134G>C |
p.G712R |
Missense |
14/22 |
- |
2 |
1-196695969-G-A |
c.2135G>A |
p.G712E |
Missense |
14/22 |
- |
3 |
1-196695969-G-C |
c.2135G>C |
p.G712A |
Missense |
14/22 |
- |
1 |
1-196695971-G-A |
c.2137G>A |
p.D713N |
Missense |
14/22 |
- |
1 |
1-196695971-G-T |
c.2137G>T |
p.D713Y |
Missense |
14/22 |
- |
1 |
1-196695975-C-A |
c.2141C>A |
p.S714* |
Nonsense |
14/22 |
- |
2 |
1-196695975-C-G |
c.2141C>G |
p.S714* |
Nonsense |
14/22 |
- |
3 |
1-196695975-C-T |
c.2141C>T |
p.S714L |
Missense |
14/22 |
- |
2 |
1-196695979-G-A |
c.2145G>A |
p.V715= |
Synonymous |
14/22 |
- |
1 |
1-196695980-G-A |
c.2146G>A |
p.E716K |
Missense |
14/22 |
- |
7 |
1-196695983-T-A |
c.2149T>A |
p.F717I |
Missense |
14/22 |
- |
3 |
1-196695983-T-C |
c.2149T>C |
p.F717L |
Missense |
14/22 |
- |
1 |
1-196695985-C-A |
c.2151C>A |
p.F717L |
Missense |
14/22 |
- |
2 |
1-196695985-C-G |
c.2151C>G |
p.F717L |
Missense |
14/22 |
- |
1 |
1-196695985-C-T |
c.2151C>T |
p.F717= |
Synonymous |
14/22 |
- |
1 |
1-196695986-AAT-TAA |
c.2152_2154delinsTAA |
p.N718* |
Nonsense |
14/22 |
- |
1 |
1-196695987-A-G |
c.2153A>G |
p.N718S |
Missense |
14/22 |
- |
1 |
1-196695989-T-G |
c.2155T>G |
p.C719G |
Missense |
14/22 |
- |
1 |
1-196695990-G-A |
c.2156G>A |
p.C719Y |
Missense |
14/22 |
- |
1 |
1-196695992-T-A |
c.2158T>A |
p.S720T |
Missense |
14/22 |
- |
3 |
1-196695993-C-T |
c.2159C>T |
p.S720L |
Missense |
14/22 |
- |
1 |
1-196695995-G-A |
c.2161G>A |
p.E721K |
Missense |
14/22 |
- |
4 |
1-196695995-G-T |
c.2161G>T |
p.E721* |
Nonsense |
14/22 |
- |
2 |
1-196695998-T-A |
c.2164T>A |
p.S722T |
Missense |
14/22 |
- |
1 |
1-196695999-C-A |
c.2165C>A |
p.S722* |
Nonsense |
14/22 |
- |
1 |
1-196695999-C-T |
c.2165C>T |
p.S722L |
Missense |
14/22 |
- |
9 |
1-196696005-AC-A |
c.2171del |
p.T724Kfs*2 |
Frameshift |
14/22 |
- |
3 |
1-196696005-C-A |
c.2171C>A |
p.T724K |
Missense |
14/22 |
- |
3 |
1-196696007-AT-TA |
c.2173_2174delinsTA |
p.M725* |
Nonsense |
14/22 |
- |
1 |
1-196696009-G-A |
c.2175G>A |
p.M725I |
Missense |
14/22 |
- |
4 |
1-196696009-G-C |
c.2175G>C |
p.M725I |
Missense |
14/22 |
- |
1 |
1-196696009-G-T |
c.2175G>T |
p.M725I |
Missense |
14/22 |
- |
1 |
1-196696010-A-G |
c.2176A>G |
p.I726V |
Missense |
14/22 |
- |
1 |
1-196696013-G-A |
c.2179G>A |
p.G727R |
Missense |
14/22 |
- |
1 |
1-196696016-C-T |
c.2182C>T |
p.H728Y |
Missense |
14/22 |
- |
1 |
1-196696017-A-G |
c.2183A>G |
p.H728R |
Missense |
14/22 |
- |
1 |
1-196696019-A-G |
c.2185A>G |
p.R729G |
Missense |
14/22 |
- |
1 |
1-196696020-G-T |
c.2186G>T |
p.R729I |
Missense |
14/22 |
- |
1 |
1-196696023-C-A |
c.2189C>A |
p.S730* |
Nonsense |
14/22 |
- |
1 |
1-196696023-C-G |
c.2189C>G |
p.S730* |
Nonsense |
14/22 |
- |
1 |
1-196696023-C-T |
c.2189C>T |
p.S730L |
Missense |
14/22 |
- |
6 |
1-196696024-A-C |
c.2190A>C |
p.S730= |
Synonymous |
14/22 |
- |
1 |
1-196696024-A-G |
c.2190A>G |
p.S730= |
Synonymous |
14/22 |
- |
1 |
1-196696024-A-T |
c.2190A>T |
p.S730= |
Synonymous |
14/22 |
- |
1 |
1-196696027-T-G |
c.2193T>G |
p.I731M |
Missense |
14/22 |
- |
1 |
1-196696029-C-T |
c.2195C>T |
p.T732M |
Missense |
14/22 |
- |
7 |
1-196696030-G-A |
c.2196G>A |
p.T732= |
Synonymous |
14/22 |
- |
2 |
1-196696030-G-C |
c.2196G>C |
p.T732= |
Synonymous |
14/22 |
- |
2 |
1-196696030-G-T |
c.2196G>T |
p.T732= |
Synonymous |
14/22 |
- |
2 |
1-196696037-C-T |
c.2203C>T |
p.H735Y |
Missense |
14/22 |
- |
7 |
1-196696038-A-G |
c.2204A>G |
p.H735R |
Missense |
14/22 |
- |
1 |
1-196696040-G-A |
c.2206G>A |
p.G736R |
Missense |
14/22 |
- |
1 |
1-196696041-G-C |
c.2207G>C |
p.G736A |
Missense |
14/22 |
- |
7 |
1-196696041-G-T |
c.2207G>T |
p.G736V |
Missense |
14/22 |
- |
3 |
1-196696042-A-G |
c.2208A>G |
p.G736= |
Synonymous |
14/22 |
- |
1 |
1-196696043-G-A |
c.2209G>A |
p.V737I |
Missense |
14/22 |
- |
1 |
1-196696045-A-C |
c.2211A>C |
p.V737= |
Synonymous |
14/22 |
- |
1 |
1-196696048-G-A |
c.2214G>A |
p.W738* |
Nonsense |
14/22 |
- |
2 |
1-196696049-AC-GG |
c.2215_2216delinsGG |
p.T739G |
Missense |
14/22 |
- |
1 |
1-196696050-C-G |
c.2216C>G |
p.T739S |
Missense |
14/22 |
- |
1 |
1-196696050-C-T |
c.2216C>T |
p.T739I |
Missense |
14/22 |
- |
1 |
1-196696052-C-G |
c.2218C>G |
p.Q740E |
Missense |
14/22 |
- |
1 |
1-196696054-A-G |
c.2220A>G |
p.Q740= |
Synonymous |
14/22 |
- |
1 |
1-196696055-C-T |
c.2221C>T |
p.L741F |
Missense |
14/22 |
- |
3 |
1-196696055-CTT-ATG |
c.2221_2223delinsATG |
p.L741M |
Missense |
14/22 |
- |
1 |
1-196696058-C-T |
c.2224C>T |
p.P742S |
Missense |
14/22 |
- |
8 |
1-196696060-C-A |
c.2226C>A |
p.P742= |
Synonymous |
14/22 |
- |
1 |
1-196696060-C-G |
c.2226C>G |
p.P742= |
Synonymous |
14/22 |
- |
1 |
1-196696060-C-T |
c.2226C>T |
p.P742= |
Synonymous |
14/22 |
- |
1 |
1-196696066-T-C |
c.2232T>C |
p.C744= |
Synonymous |
14/22 |
- |
1 |
1-196696067-G-C |
c.2233G>C |
p.V745L |
Missense |
14/22 |
- |
1 |
1-196696067-G-T |
c.2233G>T |
p.V745L |
Missense |
14/22 |
- |
1 |
1-196696070-G-T |
c.2236G>T |
p.A746S |
Missense |
14/22 |
- |
1 |
1-196696078-T-A |
c.2236+8T>A |
- |
IntronicSNV |
- |
14/21 |
1 |
1-196696737-T-C |
c.2236+667T>C |
- |
IntronicSNV |
- |
14/21 |
4 |
1-196696744-T-C |
c.2236+674T>C |
- |
IntronicSNV |
- |
14/21 |
1 |
1-196696857-A-G |
c.2237-619A>G |
- |
IntronicSNV |
- |
14/21 |
1 |
1-196696875-G-T |
c.2237-601G>T |
- |
IntronicSNV |
- |
14/21 |
6 |
1-196696933-G-A |
c.2237-543G>A |
- |
IntronicSNV |
- |
14/21 |
118 |
1-196697288-C-T |
c.2237-188C>T |
- |
IntronicSNV |
- |
14/21 |
1 |
1-196697476-C-G |
c.2237C>G |
p.A746G |
Missense |
15/22 |
- |
1 |
1-196697477-A-C |
c.2238A>C |
p.A746= |
Synonymous |
15/22 |
- |
1 |
1-196697477-A-G |
c.2238A>G |
p.A746= |
Synonymous |
15/22 |
- |
1 |
1-196697477-A-T |
c.2238A>T |
p.A746= |
Synonymous |
15/22 |
- |
1 |
1-196697479-T-TAAAC |
c.2241_2242insAACA |
p.D748Nfs*3 |
Frameshift |
15/22 |
- |
2 |
1-196697481-G-A |
c.2242G>A |
p.D748N |
Missense |
15/22 |
- |
1 |
1-196697482-A-T |
c.2243A>T |
p.D748V |
Missense |
15/22 |
- |
1 |
1-196697483-T-A |
c.2244T>A |
p.D748E |
Missense |
15/22 |
- |
1 |
1-196697482-ATAAACT-A |
c.2247_2252del |
p.L750_K751del |
InFrameDeletion |
15/22 |
- |
1 |
1-196697487-C-T |
c.2248C>T |
p.L750F |
Missense |
15/22 |
- |
1 |
1-196697487-CT-GA |
c.2248_2249delinsGA |
p.L750D |
Missense |
15/22 |
- |
1 |
1-196697487-CT-GC |
c.2248_2249delinsGC |
p.L750A |
Missense |
15/22 |
- |
1 |
1-196697489-TAAG-T |
c.2254_2256del |
p.K752del |
InFrameDeletion |
15/22 |
- |
1 |
1-196697494-A-G |
c.2255A>G |
p.K752R |
Missense |
15/22 |
- |
1 |
1-196697496-T-A |
c.2257T>A |
p.C753S |
Missense |
15/22 |
- |
1 |
1-196697496-TG-GC |
c.2257_2258delinsGC |
p.C753A |
Missense |
15/22 |
- |
2 |
1-196697497-G-C |
c.2258G>C |
p.C753S |
Missense |
15/22 |
- |
1 |
1-196697497-G-T |
c.2258G>T |
p.C753F |
Missense |
15/22 |
- |
1 |
1-196697498-C-A |
c.2259C>A |
p.C753* |
Nonsense |
15/22 |
- |
1 |
1-196697502-T-C |
c.2263T>C |
p.S755P |
Missense |
15/22 |
- |
2 |
1-196697502-T-G |
c.2263T>G |
p.S755A |
Missense |
15/22 |
- |
2 |
1-196697503-C-T |
c.2264C>T |
p.S755L |
Missense |
15/22 |
- |
6 |
1-196697505-T-A |
c.2266T>A |
p.S756T |
Missense |
15/22 |
- |
2 |
1-196697506-C-A |
c.2267C>A |
p.S756* |
Nonsense |
15/22 |
- |
1 |
1-196697506-C-G |
c.2267C>G |
p.S756* |
Nonsense |
15/22 |
- |
1 |
1-196697507-A-G |
c.2268A>G |
p.S756= |
Synonymous |
15/22 |
- |
1 |
1-196697512-T-C |
c.2273T>C |
p.L758S |
Missense |
15/22 |
- |
3 |
1-196697519-A-G |
c.2280A>G |
p.I760M |
Missense |
15/22 |
- |
1 |
1-196697521-T-C |
c.2282T>C |
p.L761P |
Missense |
15/22 |
- |
2 |
1-196697521-T-G |
c.2282T>G |
p.L761R |
Missense |
15/22 |
- |
2 |
1-196697523-G-A |
c.2284G>A |
p.E762K |
Missense |
15/22 |
- |
1 |
1-196697523-G-T |
c.2284G>T |
p.E762* |
Nonsense |
15/22 |
- |
1 |
1-196697525-G-C |
c.2286G>C |
p.E762D |
Missense |
15/22 |
- |
1 |
1-196697528-A-G |
c.2289A>G |
p.E763= |
Synonymous |
15/22 |
- |
1 |
1-196697529-C-A |
c.2290C>A |
p.H764N |
Missense |
15/22 |
- |
1 |
1-196697529-C-T |
c.2290C>T |
p.H764Y |
Missense |
15/22 |
- |
1 |
1-196697533-T-A |
c.2294T>A |
p.L765* |
Nonsense |
15/22 |
- |
1 |
1-196697533-T-G |
c.2294T>G |
p.L765* |
Nonsense |
15/22 |
- |
1 |
1-196697534-A-C |
c.2295A>C |
p.L765F |
Missense |
15/22 |
- |
2 |
1-196697534-A-T |
c.2295A>T |
p.L765F |
Missense |
15/22 |
- |
2 |
1-196697533-TA-T |
c.2300del |
p.N767Tfs*11 |
Frameshift |
15/22 |
- |
1 |
1-196697539-A-C |
c.2300A>C |
p.N767T |
Missense |
15/22 |
- |
1 |
1-196697538-AAC-A |
c.2301_2302del |
p.N767Kfs*7 |
Frameshift |
15/22 |
- |
1 |
1-196697541-A-T |
c.2302A>T |
p.K768* |
Nonsense |
15/22 |
- |
1 |
1-196697544-A-G |
c.2305A>G |
p.K769E |
Missense |
15/22 |
- |
2 |
1-196697547-G-A |
c.2308G>A |
p.E770K |
Missense |
15/22 |
- |
1 |
1-196697550-T-A |
c.2311T>A |
p.F771I |
Missense |
15/22 |
- |
1 |
1-196697550-T-C |
c.2311T>C |
p.F771L |
Missense |
15/22 |
- |
4 |
1-196697552-C-G |
c.2313C>G |
p.F771L |
Missense |
15/22 |
- |
3 |
1-196697552-C-A |
c.2313C>A |
p.F771L |
Missense |
15/22 |
- |
4 |
1-196697552-C-T |
c.2313C>T |
p.F771= |
Synonymous |
15/22 |
- |
7 |
1-196697553-G-A |
c.2314G>A |
p.D772N |
Missense |
15/22 |
- |
5 |
1-196697553-G-T |
c.2314G>T |
p.D772Y |
Missense |
15/22 |
- |
1 |
1-196697561-T-A |
c.2322T>A |
p.N774K |
Missense |
15/22 |
- |
2 |
1-196697561-T-C |
c.2322T>C |
p.N774= |
Synonymous |
15/22 |
- |
1 |
1-196697561-T-G |
c.2322T>G |
p.N774K |
Missense |
15/22 |
- |
1 |
1-196697563-C-T |
c.2324C>T |
p.S775F |
Missense |
15/22 |
- |
2 |
1-196697566-A-G |
c.2327A>G |
p.N776S |
Missense |
15/22 |
- |
1 |
1-196697567-C-A |
c.2328C>A |
p.N776K |
Missense |
15/22 |
- |
1 |
1-196697567-C-G |
c.2328C>G |
p.N776K |
Missense |
15/22 |
- |
1 |
1-196697568-A-C |
c.2329A>C |
p.I777L |
Missense |
15/22 |
- |
1 |
1-196697568-A-G |
c.2329A>G |
p.I777V |
Missense |
15/22 |
- |
4 |
1-196697568-A-T |
c.2329A>T |
p.I777L |
Missense |
15/22 |
- |
1 |
1-196697571-AG-TA |
c.2332_2333delinsTA |
p.R778* |
Nonsense |
15/22 |
- |
1 |
1-196697571-A-T |
c.2332A>T |
p.R778W |
Missense |
15/22 |
- |
1 |
1-196697572-G-C |
c.2333G>C |
p.R778T |
Missense |
15/22 |
- |
1 |
1-196697572-G-T |
c.2333G>T |
p.R778M |
Missense |
15/22 |
- |
1 |
1-196697571-A-C |
c.2332A>C |
p.R778= |
Synonymous |
15/22 |
- |
1 |
1-196697573-G-A |
c.2334G>A |
p.R778= |
Synonymous |
15/22 |
- |
1 |
1-196697573-G-C |
c.2334G>C |
p.R778S |
Missense |
15/22 |
- |
1 |
1-196697573-G-T |
c.2334G>T |
p.R778S |
Missense |
15/22 |
- |
1 |
1-196697574-TA-GC |
c.2335_2336delinsGC |
p.Y779A |
Missense |
15/22 |
- |
1 |
1-196697575-A-G |
c.2336A>G |
p.Y779C |
Missense |
15/22 |
- |
2 |
1-196697583-A-G |
c.2344A>G |
p.R782G |
Missense |
15/22 |
- |
1 |
1-196697586-G-T |
c.2347G>T |
p.G783* |
Nonsense |
15/22 |
- |
1 |
1-196697587-G-A |
c.2348G>A |
p.G783E |
Missense |
15/22 |
- |
4 |
1-196697588-A-T |
c.2349A>T |
p.G783= |
Synonymous |
15/22 |
- |
1 |
1-196697590-A-G |
c.2351A>G |
p.K784R |
Missense |
15/22 |
- |
1 |
1-196697592-G-A |
c.2353G>A |
p.E785K |
Missense |
15/22 |
- |
6 |
1-196697592-G-T |
c.2353G>T |
p.E785* |
Nonsense |
15/22 |
- |
1 |
1-196697595-G-A |
c.2356G>A |
p.G786R |
Missense |
15/22 |
- |
1 |
1-196697595-G-C |
c.2356G>C |
p.G786R |
Missense |
15/22 |
- |
1 |
1-196697596-G-T |
c.2357G>T |
p.G786V |
Missense |
15/22 |
- |
2 |
1-196697599-G-A |
c.2360G>A |
p.W787* |
Nonsense |
15/22 |
- |
2 |
1-196697600-G-A |
c.2361G>A |
p.W787* |
Nonsense |
15/22 |
- |
5 |
1-196697609-A-C |
c.2370A>C |
p.T790= |
Synonymous |
15/22 |
- |
2 |
1-196697609-A-G |
c.2370A>G |
p.T790= |
Synonymous |
15/22 |
- |
2 |
1-196697609-A-T |
c.2370A>T |
p.T790= |
Synonymous |
15/22 |
- |
2 |
1-196697617-T-A |
c.2378T>A |
p.I793K |
Missense |
15/22 |
- |
1 |
1-196697620-A-T |
c.2381A>T |
p.N794I |
Missense |
15/22 |
- |
1 |
1-196697622-G-A |
c.2383G>A |
p.G795R |
Missense |
15/22 |
- |
5 |
1-196697623-G-C |
c.2384G>C |
p.G795A |
Missense |
15/22 |
- |
2 |
1-196697630-G-A |
c.2391G>A |
p.W797* |
Nonsense |
15/22 |
- |
2 |
1-196697631-G-A |
c.2392G>A |
p.D798N |
Missense |
15/22 |
- |
5 |
1-196697632-A-G |
c.2393A>G |
p.D798G |
Missense |
15/22 |
- |
1 |
1-196697633-T-A |
c.2394T>A |
p.D798E |
Missense |
15/22 |
- |
2 |
1-196697634-C-A |
c.2395C>A |
p.P799T |
Missense |
15/22 |
- |
1 |
1-196697636-CA-C |
c.2397del |
p.E800Kfs*2 |
Frameshift |
15/22 |
- |
1 |
1-196697642-G-A |
c.2403G>A |
p.V801= |
Synonymous |
15/22 |
- |
1 |
1-196697643-GAAC-G |
c.2404_2406del |
p.N802del |
InFrameDeletion |
15/22 |
- |
1 |
1-196697650-C-A |
c.2411C>A |
p.S804* |
Nonsense |
15/22 |
- |
3 |
1-196697650-C-G |
c.2411C>G |
p.S804* |
Nonsense |
15/22 |
- |
2 |
1-196697863-GCACA-G |
c.2413+234_2413+237del |
- |
IntronicDeletion |
- |
15/21 |
1 |
1-196697912-C-T |
c.2413+260C>T |
- |
IntronicSNV |
- |
15/21 |
1 |
1-196698272-A-G |
c.2413+620A>G |
- |
IntronicSNV |
- |
15/21 |
5 |
1-196698272-A-T |
c.2413+620A>T |
- |
IntronicSNV |
- |
15/21 |
5 |
1-196698463-A-G |
c.2413+811A>G |
- |
IntronicSNV |
- |
15/21 |
2 |
1-196698651-A-T |
c.2413+999A>T |
- |
IntronicSNV |
- |
15/21 |
1 |
1-196698945-G-A |
c.2413+1293G>A |
- |
IntronicSNV |
- |
15/21 |
21 |
1-196698945-G-T |
c.2413+1293G>T |
- |
IntronicSNV |
- |
15/21 |
21 |
1-196699044-T-G |
c.2413+1392T>G |
- |
IntronicSNV |
- |
15/21 |
2 |
1-196700322-G-C |
c.2413+2670G>C |
- |
IntronicSNV |
- |
15/21 |
1 |
1-196700322-G-T |
c.2413+2670G>T |
- |
IntronicSNV |
- |
15/21 |
1 |
1-196700914-G-A |
c.2413+3262G>A |
- |
IntronicSNV |
- |
15/21 |
3 |
1-196700914-G-T |
c.2413+3262G>T |
- |
IntronicSNV |
- |
15/21 |
3 |
1-196701051-G-A |
c.2413+3399G>A |
- |
IntronicSNV |
- |
15/21 |
66 |
1-196701051-G-C |
c.2413+3399G>C |
- |
IntronicSNV |
- |
15/21 |
66 |
1-196701051-G-T |
c.2413+3399G>T |
- |
IntronicSNV |
- |
15/21 |
66 |
1-196701284-C-T |
c.2413+3632C>T |
- |
IntronicSNV |
- |
15/21 |
3 |
1-196701473-A-T |
c.2413+3821A>T |
- |
IntronicSNV |
- |
15/21 |
1 |
1-196702525-C-A |
c.2414-3429C>A |
- |
IntronicSNV |
- |
15/21 |
17 |
1-196702525-C-T |
c.2414-3429C>T |
- |
IntronicSNV |
- |
15/21 |
17 |
1-196702810-C-T |
c.2414-3144C>T |
- |
IntronicSNV |
- |
15/21 |
83 |
1-196703707-G-A |
c.2414-2247G>A |
- |
IntronicSNV |
- |
15/21 |
17 |
1-196703707-G-C |
c.2414-2247G>C |
- |
IntronicSNV |
- |
15/21 |
17 |
1-196703707-G-T |
c.2414-2247G>T |
- |
IntronicSNV |
- |
15/21 |
17 |
1-196704039-G-A |
c.2414-1915G>A |
- |
IntronicSNV |
- |
15/21 |
1 |
1-196704039-G-T |
c.2414-1915G>T |
- |
IntronicSNV |
- |
15/21 |
1 |
1-196704204-G-A |
c.2414-1750G>A |
- |
IntronicSNV |
- |
15/21 |
1 |
1-196704443-A-G |
c.2414-1511A>G |
- |
IntronicSNV |
- |
15/21 |
1 |
1-196704559-C-T |
c.2414-1395C>T |
- |
IntronicSNV |
- |
15/21 |
1 |
1-196704632-C-A |
c.2414-1322C>A |
- |
IntronicSNV |
- |
15/21 |
46 |
1-196704997-G-A |
c.2414-957G>A |
- |
IntronicSNV |
- |
15/21 |
6 |
1-196705015-C-A |
c.2414-939C>A |
- |
IntronicSNV |
- |
15/21 |
1 |
1-196705520-T-C |
c.2414-434T>C |
- |
IntronicSNV |
- |
15/21 |
5 |
1-196705926-C-A |
c.2414-28C>A |
- |
IntronicSNV |
- |
15/21 |
9 |
1-196705956-G-A |
c.2416G>A |
p.A806T |
Missense |
16/22 |
- |
1 |
1-196705956-GCA-TGT |
c.2416_2418delinsTGT |
p.A806C |
Missense |
16/22 |
- |
1 |
1-196705961-A-G |
c.2421A>G |
p.Q807= |
Synonymous |
16/22 |
- |
2 |
1-196705965-C-G |
c.2425C>G |
p.Q809E |
Missense |
16/22 |
- |
1 |
1-196705968-TT-CA |
c.2428_2429delinsCA |
p.L810Q |
Missense |
16/22 |
- |
1 |
1-196705973-C-T |
c.2433C>T |
p.C811= |
Synonymous |
16/22 |
- |
1 |
1-196705977-C-T |
c.2437C>T |
p.P813S |
Missense |
16/22 |
- |
2 |
1-196705978-C-T |
c.2438C>T |
p.P813L |
Missense |
16/22 |
- |
1 |
1-196705980-C-T |
c.2440C>T |
p.P814S |
Missense |
16/22 |
- |
1 |
1-196705981-C-T |
c.2441C>T |
p.P814L |
Missense |
16/22 |
- |
1 |
1-196705983-C-A |
c.2443C>A |
p.P815T |
Missense |
16/22 |
- |
2 |
1-196705988-G-A |
c.2448G>A |
p.Q816= |
Synonymous |
16/22 |
- |
3 |
1-196705989-A-T |
c.2449A>T |
p.I817F |
Missense |
16/22 |
- |
1 |
1-196705992-C-T |
c.2452C>T |
p.P818S |
Missense |
16/22 |
- |
3 |
1-196705993-C-A |
c.2453C>A |
p.P818H |
Missense |
16/22 |
- |
1 |
1-196705994-C-T |
c.2454C>T |
p.P818= |
Synonymous |
16/22 |
- |
3 |
1-196705996-A-G |
c.2456A>G |
p.N819S |
Missense |
16/22 |
- |
1 |
1-196705997-T-C |
c.2457T>C |
p.N819= |
Synonymous |
16/22 |
- |
1 |
1-196705998-T-C |
c.2458T>C |
p.S820P |
Missense |
16/22 |
- |
1 |
1-196705999-C-A |
c.2459C>A |
p.S820Y |
Missense |
16/22 |
- |
1 |
1-196705999-C-T |
c.2459C>T |
p.S820F |
Missense |
16/22 |
- |
1 |
1-196706000-T-C |
c.2460T>C |
p.S820= |
Synonymous |
16/22 |
- |
1 |
1-196706001-C-T |
c.2461C>T |
p.H821Y |
Missense |
16/22 |
- |
3 |
1-196706002-A-G |
c.2462A>G |
p.H821R |
Missense |
16/22 |
- |
2 |
1-196706003-C-A |
c.2463C>A |
p.H821Q |
Missense |
16/22 |
- |
1 |
1-196706003-C-G |
c.2463C>G |
p.H821Q |
Missense |
16/22 |
- |
1 |
1-196706003-C-T |
c.2463C>T |
p.H821= |
Synonymous |
16/22 |
- |
1 |
1-196706010-ACA-TGT |
c.2470_2472inv |
p.T824C |
Missense |
16/22 |
- |
1 |
1-196706013-A-T |
c.2473A>T |
p.T825S |
Missense |
16/22 |
- |
1 |
1-196706016-CA-C |
c.2476del |
p.T826Hfs*2 |
Frameshift |
16/22 |
- |
1 |
1-196706019-ACTG-A |
c.2479_2481del |
p.L827del |
InFrameDeletion |
16/22 |
- |
1 |
1-196706019-C-G |
c.2479C>G |
p.L827V |
Missense |
16/22 |
- |
1 |
1-196706021-G-A |
c.2481G>A |
p.L827= |
Synonymous |
16/22 |
- |
1 |
1-196706022-A-G |
c.2482A>G |
p.N828D |
Missense |
16/22 |
- |
2 |
1-196706022-GAATTA-G |
c.2482_2486del |
p.N828Sfs*37 |
Frameshift |
16/22 |
- |
1 |
1-196706023-A-T |
c.2483A>T |
p.N828I |
Missense |
16/22 |
- |
1 |
1-196706024-T-C |
c.2484T>C |
p.N828= |
Synonymous |
16/22 |
- |
1 |
1-196706028-C-A |
c.2488C>A |
p.R830= |
Synonymous |
16/22 |
- |
1 |
1-196706028-CGG-TGT |
c.2488_2490delinsTGT |
p.R830C |
Missense |
16/22 |
- |
1 |
1-196706028-C-T |
c.2488C>T |
p.R830W |
Missense |
16/22 |
- |
9 |
1-196706030-G-C |
c.2490G>C |
p.R830= |
Synonymous |
16/22 |
- |
1 |
1-196706030-G-T |
c.2490G>T |
p.R830= |
Synonymous |
16/22 |
- |
1 |
1-196706029-G-A |
c.2489G>A |
p.R830Q |
Missense |
16/22 |
- |
1 |
1-196706030-G-A |
c.2490G>A |
p.R830= |
Synonymous |
16/22 |
- |
3 |
1-196706031-G-A |
c.2491G>A |
p.D831N |
Missense |
16/22 |
- |
1 |
1-196706032-A-T |
c.2492A>T |
p.D831V |
Missense |
16/22 |
- |
1 |
1-196706033-T-A |
c.2493T>A |
p.D831E |
Missense |
16/22 |
- |
1 |
1-196706033-T-G |
c.2493T>G |
p.D831E |
Missense |
16/22 |
- |
1 |
1-196706034-G-A |
c.2494G>A |
p.G832R |
Missense |
16/22 |
- |
7 |
1-196706034-G-C |
c.2494G>C |
p.G832R |
Missense |
16/22 |
- |
2 |
1-196706036-A-C |
c.2496A>C |
p.G832= |
Synonymous |
16/22 |
- |
1 |
1-196706036-A-G |
c.2496A>G |
p.G832= |
Synonymous |
16/22 |
- |
1 |
1-196706036-A-T |
c.2496A>T |
p.G832= |
Synonymous |
16/22 |
- |
1 |
1-196706037-G-A |
c.2497G>A |
p.E833K |
Missense |
16/22 |
- |
6 |
1-196706037-G-T |
c.2497G>T |
p.E833* |
Nonsense |
16/22 |
- |
1 |
1-196706040-A-C |
c.2500A>C |
p.K834Q |
Missense |
16/22 |
- |
1 |
1-196706040-A-T |
c.2500A>T |
p.K834* |
Nonsense |
16/22 |
- |
2 |
1-196706042-A-G |
c.2502A>G |
p.K834= |
Synonymous |
16/22 |
- |
2 |
1-196706043-G-T |
c.2503G>T |
p.V835L |
Missense |
16/22 |
- |
1 |
1-196706046-T-A |
c.2506T>A |
p.S836T |
Missense |
16/22 |
- |
1 |
1-196706047-C-A |
c.2507C>A |
p.S836Y |
Missense |
16/22 |
- |
2 |
1-196706047-C-T |
c.2507C>T |
p.S836F |
Missense |
16/22 |
- |
1 |
1-196706049-G-A |
c.2509G>A |
p.V837I |
Missense |
16/22 |
- |
11 |
1-196706052-C-A |
c.2512C>A |
p.L838I |
Missense |
16/22 |
- |
1 |
1-196706052-C-T |
c.2512C>T |
p.L838F |
Missense |
16/22 |
- |
1 |
1-196706055-TG-AC |
c.2515_2516delinsAC |
p.C839T |
Missense |
16/22 |
- |
2 |
1-196706057-C-A |
c.2517C>A |
p.C839* |
Nonsense |
16/22 |
- |
1 |
1-196706057-C-T |
c.2517C>T |
p.C839= |
Synonymous |
16/22 |
- |
1 |
1-196706058-C-T |
c.2518C>T |
p.Q840* |
Nonsense |
16/22 |
- |
1 |
1-196706059-A-C |
c.2519A>C |
p.Q840P |
Missense |
16/22 |
- |
1 |
1-196706058-C-CA |
c.2520dup |
p.E841Rfs*26 |
Frameshift |
16/22 |
- |
2 |
1-196706060-A-C |
c.2520A>C |
p.Q840H |
Missense |
16/22 |
- |
1 |
1-196706060-A-T |
c.2520A>T |
p.Q840H |
Missense |
16/22 |
- |
1 |
1-196706061-G-T |
c.2521G>T |
p.E841* |
Nonsense |
16/22 |
- |
1 |
1-196706066-T-C |
c.2526T>C |
p.N842= |
Synonymous |
16/22 |
- |
1 |
1-196706066-T-G |
c.2526T>G |
p.N842K |
Missense |
16/22 |
- |
1 |
1-196706067-T-C |
c.2527T>C |
p.Y843H |
Missense |
16/22 |
- |
1 |
1-196706070-C-T |
c.2530C>T |
p.L844= |
Synonymous |
16/22 |
- |
1 |
1-196706077-A-G |
c.2537A>G |
p.Q846R |
Missense |
16/22 |
- |
2 |
1-196706079-G-A |
c.2539G>A |
p.E847K |
Missense |
16/22 |
- |
3 |
1-196706080-A-T |
c.2540A>T |
p.E847V |
Missense |
16/22 |
- |
6 |
1-196706082-G-A |
c.2542G>A |
p.G848R |
Missense |
16/22 |
- |
1 |
1-196706082-G-C |
c.2542G>C |
p.G848R |
Missense |
16/22 |
- |
1 |
1-196706082-G-T |
c.2542G>T |
p.G848* |
Nonsense |
16/22 |
- |
1 |
1-196706083-G-A |
c.2543G>A |
p.G848E |
Missense |
16/22 |
- |
1 |
1-196706083-G-T |
c.2543G>T |
p.G848V |
Missense |
16/22 |
- |
1 |
1-196706087-A-G |
c.2547A>G |
p.E849= |
Synonymous |
16/22 |
- |
1 |
1-196706088-G-A |
c.2548G>A |
p.E850K |
Missense |
16/22 |
- |
3 |
1-196706091-A-G |
c.2551A>G |
p.I851V |
Missense |
16/22 |
- |
1 |
1-196706093-T-G |
c.2553T>G |
p.I851M |
Missense |
16/22 |
- |
2 |
1-196706097-T-C |
c.2557T>C |
p.C853R |
Missense |
16/22 |
- |
6 |
1-196706097-T-G |
c.2557T>G |
p.C853G |
Missense |
16/22 |
- |
1 |
1-196706098-G-A |
c.2558G>A |
p.C853Y |
Missense |
16/22 |
- |
2 |
1-196706103-G-C |
c.2563G>C |
p.D855H |
Missense |
16/22 |
- |
1 |
1-196706106-G-A |
c.2566G>A |
p.G856R |
Missense |
16/22 |
- |
2 |
1-196706106-G-C |
c.2566G>C |
p.G856R |
Missense |
16/22 |
- |
2 |
1-196706109-A-T |
c.2569A>T |
p.R857* |
Nonsense |
16/22 |
- |
1 |
1-196706110-G-A |
c.2570G>A |
p.R857K |
Missense |
16/22 |
- |
1 |
1-196706112-T-A |
c.2572T>A |
p.W858R |
Missense |
16/22 |
- |
7 |
1-196706112-T-C |
c.2572T>C |
p.W858R |
Missense |
16/22 |
- |
2 |
1-196706113-G-A |
c.2573G>A |
p.W858* |
Nonsense |
16/22 |
- |
1 |
1-196706113-G-T |
c.2573G>T |
p.W858L |
Missense |
16/22 |
- |
2 |
1-196706114-G-A |
c.2574G>A |
p.W858* |
Nonsense |
16/22 |
- |
1 |
1-196706115-C-T |
c.2575C>T |
p.Q859* |
Nonsense |
16/22 |
- |
1 |
1-196706122-TACC-T |
c.2585_2587del |
p.P862del |
InFrameDeletion |
16/22 |
- |
1 |
1-196706128-T-A |
c.2588T>A |
p.L863H |
Missense |
16/22 |
- |
1 |
1-196706130-T-A |
c.2590T>A |
p.C864S |
Missense |
16/22 |
- |
2 |
1-196706131-G-C |
c.2591G>C |
p.C864S |
Missense |
16/22 |
- |
2 |
1-196706133-G-T |
c.2593G>T |
p.V865F |
Missense |
16/22 |
- |
1 |
1-196706135-T-A |
c.2595T>A |
p.V865= |
Synonymous |
16/22 |
- |
1 |
1-196706135-T-C |
c.2595T>C |
p.V865= |
Synonymous |
16/22 |
- |
1 |
1-196706135-T-G |
c.2595T>G |
p.V865= |
Synonymous |
16/22 |
- |
1 |
1-196706144-G-T |
c.2596+8G>T |
- |
IntronicSNV |
- |
16/21 |
1 |
1-196706166-T-A |
c.2596+30T>A |
- |
IntronicSNV |
- |
16/21 |
1 |
1-196706200-C-T |
c.2596+64C>T |
- |
IntronicSNV |
- |
16/21 |
1 |
1-196706201-G-A |
c.2596+65G>A |
- |
IntronicSNV |
- |
16/21 |
1 |
1-196706609-A-C |
c.2601A>C |
p.K867N |
Missense |
17/22 |
- |
1 |
1-196706609-A-T |
c.2601A>T |
p.K867N |
Missense |
17/22 |
- |
1 |
1-196706604-G-GA |
c.2602dup |
p.I868Nfs*15 |
Frameshift |
17/22 |
- |
1 |
1-196706613-C-T |
c.2605C>T |
p.P869S |
Missense |
17/22 |
- |
10 |
1-196706614-C-T |
c.2606C>T |
p.P869L |
Missense |
17/22 |
- |
5 |
1-196706617-G-A |
c.2609G>A |
p.C870Y |
Missense |
17/22 |
- |
1 |
1-196706620-CA-AT |
c.2612_2613delinsAT |
p.S871Y |
Missense |
17/22 |
- |
1 |
1-196706620-C-T |
c.2612C>T |
p.S871L |
Missense |
17/22 |
- |
1 |
1-196706627-A-C |
c.2619A>C |
p.P873= |
Synonymous |
17/22 |
- |
1 |
1-196706627-A-G |
c.2619A>G |
p.P873= |
Synonymous |
17/22 |
- |
1 |
1-196706627-A-T |
c.2619A>T |
p.P873= |
Synonymous |
17/22 |
- |
1 |
1-196706629-C-A |
c.2621C>A |
p.P874H |
Missense |
17/22 |
- |
1 |
1-196706629-C-T |
c.2621C>T |
p.P874L |
Missense |
17/22 |
- |
2 |
1-196706631-C-T |
c.2623C>T |
p.Q875* |
Nonsense |
17/22 |
- |
3 |
1-196706633-G-C |
c.2625G>C |
p.Q875H |
Missense |
17/22 |
- |
3 |
1-196706633-G-T |
c.2625G>T |
p.Q875H |
Missense |
17/22 |
- |
2 |
1-196706637-G-A |
c.2629G>A |
p.E877K |
Missense |
17/22 |
- |
4 |
1-196706640-C-T |
c.2632C>T |
p.H878Y |
Missense |
17/22 |
- |
1 |
1-196706642-C-T |
c.2634C>T |
p.H878= |
Synonymous |
17/22 |
- |
23 |
1-196706643-G-A |
c.2635G>A |
p.G879R |
Missense |
17/22 |
- |
2 |
1-196706643-G-C |
c.2635G>C |
p.G879R |
Missense |
17/22 |
- |
1 |
1-196706644-G-A |
c.2636G>A |
p.G879E |
Missense |
17/22 |
- |
7 |
1-196706645-A-C |
c.2637A>C |
p.G879= |
Synonymous |
17/22 |
- |
1 |
1-196706645-A-G |
c.2637A>G |
p.G879= |
Synonymous |
17/22 |
- |
3 |
1-196706645-A-T |
c.2637A>T |
p.G879= |
Synonymous |
17/22 |
- |
1 |
1-196706647-C-T |
c.2639C>T |
p.T880I |
Missense |
17/22 |
- |
2 |
1-196706649-A-G |
c.2641A>G |
p.I881V |
Missense |
17/22 |
- |
1 |
1-196706652-AAT-TAA |
c.2644_2646delinsTAA |
p.N882* |
Nonsense |
17/22 |
- |
1 |
1-196706656-C-T |
c.2648C>T |
p.S883L |
Missense |
17/22 |
- |
6 |
1-196706658-T-C |
c.2650T>C |
p.S884P |
Missense |
17/22 |
- |
4 |
1-196706659-C-A |
c.2651C>A |
p.S884Y |
Missense |
17/22 |
- |
5 |
1-196706659-C-T |
c.2651C>T |
p.S884F |
Missense |
17/22 |
- |
1 |
1-196706661-AGG-CAT |
c.2653_2655delinsCAT |
p.R885H |
Missense |
17/22 |
- |
11 |
1-196706661-AGG-TGT |
c.2653_2655delinsTGT |
p.R885C |
Missense |
17/22 |
- |
2 |
1-196706662-G-A |
c.2654G>A |
p.R885K |
Missense |
17/22 |
- |
3 |
1-196706662-G-T |
c.2654G>T |
p.R885M |
Missense |
17/22 |
- |
2 |
1-196706661-AG-A |
c.2655del |
p.R885Sfs*13 |
Frameshift |
17/22 |
- |
2 |
1-196706663-G-T |
c.2655G>T |
p.R885S |
Missense |
17/22 |
- |
1 |
1-196706668-CA-TT |
c.2660_2661delinsTT |
p.S887F |
Missense |
17/22 |
- |
1 |
1-196706670-C-A |
c.2662C>A |
p.Q888K |
Missense |
17/22 |
- |
1 |
1-196706670-C-T |
c.2662C>T |
p.Q888* |
Nonsense |
17/22 |
- |
1 |
1-196706674-A-C |
c.2666A>C |
p.E889A |
Missense |
17/22 |
- |
1 |
1-196706676-A-C |
c.2668A>C |
p.S890R |
Missense |
17/22 |
- |
2 |
1-196706677-G-A |
c.2669G>A |
p.S890N |
Missense |
17/22 |
- |
5 |
1-196706677-G-C |
c.2669G>C |
p.S890T |
Missense |
17/22 |
- |
5 |
1-196706677-G-T |
c.2669G>T |
p.S890I |
Missense |
17/22 |
- |
26 |
1-196706678-T-A |
c.2670T>A |
p.S890R |
Missense |
17/22 |
- |
1 |
1-196706678-T-C |
c.2670T>C |
p.S890= |
Synonymous |
17/22 |
- |
1 |
1-196706678-T-G |
c.2670T>G |
p.S890R |
Missense |
17/22 |
- |
1 |
1-196706682-G-T |
c.2674G>T |
p.A892S |
Missense |
17/22 |
- |
1 |
1-196706683-C-T |
c.2675C>T |
p.A892V |
Missense |
17/22 |
- |
4 |
1-196706686-A-G |
c.2678A>G |
p.H893R |
Missense |
17/22 |
- |
4 |
1-196706688-GG-AC |
c.2680_2681delinsAC |
p.G894T |
Missense |
17/22 |
- |
3 |
1-196706689-G-A |
c.2681G>A |
p.G894E |
Missense |
17/22 |
- |
6 |
1-196706690-G-C |
c.2682G>C |
p.G894= |
Synonymous |
17/22 |
- |
1 |
1-196706691-A-G |
c.2683A>G |
p.T895A |
Missense |
17/22 |
- |
2 |
1-196706692-C-T |
c.2684C>T |
p.T895I |
Missense |
17/22 |
- |
5 |
1-196706690-GACTAAATTGAGTTAT-G |
c.2686_2700del |
p.K896_T900del |
InFrameDeletion |
17/22 |
- |
1 |
1-196706700-A-G |
c.2692A>G |
p.S898G |
Missense |
17/22 |
- |
1 |
1-196706703-T-C |
c.2695T>C |
p.Y899H |
Missense |
17/22 |
- |
2 |
1-196706703-T-G |
c.2695T>G |
p.Y899D |
Missense |
17/22 |
- |
2 |
1-196706705-T-A |
c.2697T>A |
p.Y899* |
Nonsense |
17/22 |
- |
7 |
1-196706705-T-G |
c.2697T>G |
p.Y899* |
Nonsense |
17/22 |
- |
4 |
1-196706707-C-A |
c.2699C>A |
p.T900N |
Missense |
17/22 |
- |
1 |
1-196706707-CT-TG |
c.2699_2700delinsTG |
p.T900M |
Missense |
17/22 |
- |
1 |
1-196706712-G-A |
c.2704G>A |
p.E902K |
Missense |
17/22 |
- |
1 |
1-196706714-G-C |
c.2706G>C |
p.E902D |
Missense |
17/22 |
- |
1 |
1-196706714-G-T |
c.2706G>T |
p.E902D |
Missense |
17/22 |
- |
2 |
1-196706715-G-A |
c.2707G>A |
p.G903S |
Missense |
17/22 |
- |
3 |
1-196706718-G-A |
c.2710G>A |
p.G904S |
Missense |
17/22 |
- |
2 |
1-196706718-G-C |
c.2710G>C |
p.G904R |
Missense |
17/22 |
- |
1 |
1-196706723-C-T |
c.2715C>T |
p.F905= |
Synonymous |
17/22 |
- |
2 |
1-196706724-AGG-TGT |
c.2716_2718delinsTGT |
p.R906C |
Missense |
17/22 |
- |
1 |
1-196706725-G-A |
c.2717G>A |
p.R906K |
Missense |
17/22 |
- |
3 |
1-196706724-A-C |
c.2716A>C |
p.R906= |
Synonymous |
17/22 |
- |
1 |
1-196706726-G-A |
c.2718G>A |
p.R906= |
Synonymous |
17/22 |
- |
2 |
1-196706733-G-A |
c.2725G>A |
p.E909K |
Missense |
17/22 |
- |
2 |
1-196706734-A-G |
c.2726A>G |
p.E909G |
Missense |
17/22 |
- |
1 |
1-196706735-A-C |
c.2727A>C |
p.E909D |
Missense |
17/22 |
- |
2 |
1-196706736-G-T |
c.2728G>T |
p.E910* |
Nonsense |
17/22 |
- |
2 |
1-196706738-A-C |
c.2730A>C |
p.E910D |
Missense |
17/22 |
- |
3 |
1-196706738-A-T |
c.2730A>T |
p.E910D |
Missense |
17/22 |
- |
2 |
1-196706740-A-G |
c.2732A>G |
p.N911S |
Missense |
17/22 |
- |
1 |
1-196706742-G-A |
c.2734G>A |
p.E912K |
Missense |
17/22 |
- |
6 |
1-196706751-T-A |
c.2743T>A |
p.C915S |
Missense |
17/22 |
- |
3 |
1-196706752-G-C |
c.2744G>C |
p.C915S |
Missense |
17/22 |
- |
3 |
1-196706753-C-A |
c.2745C>A |
p.C915* |
Nonsense |
17/22 |
- |
2 |
1-196706755-A-G |
c.2747A>G |
p.Y916C |
Missense |
17/22 |
- |
3 |
1-196706756-C-A |
c.2748C>A |
p.Y916* |
Nonsense |
17/22 |
- |
1 |
1-196706756-C-G |
c.2748C>G |
p.Y916* |
Nonsense |
17/22 |
- |
3 |
1-196706756-C-T |
c.2748C>T |
p.Y916= |
Synonymous |
17/22 |
- |
1 |
1-196706758-T-C |
c.2750T>C |
p.M917T |
Missense |
17/22 |
- |
1 |
1-196706759-G-A |
c.2751G>A |
p.M917I |
Missense |
17/22 |
- |
1 |
1-196706759-G-C |
c.2751G>C |
p.M917I |
Missense |
17/22 |
- |
1 |
1-196706759-G-T |
c.2751G>T |
p.M917I |
Missense |
17/22 |
- |
1 |
1-196706761-G-A |
c.2753G>A |
p.G918E |
Missense |
17/22 |
- |
6 |
1-196706766-T-C |
c.2758T>C |
p.W920R |
Missense |
17/22 |
- |
1 |
1-196706769-A-T |
c.2761A>T |
p.S921C |
Missense |
17/22 |
- |
1 |
1-196706773-C-A |
c.2765C>A |
p.S922Y |
Missense |
17/22 |
- |
1 |
1-196706776-C-T |
c.2768C>T |
p.P923L |
Missense |
17/22 |
- |
3 |
1-196706778-C-T |
c.2770C>T |
p.P924S |
Missense |
17/22 |
- |
1 |
1-196706779-C-T |
c.2771C>T |
p.P924L |
Missense |
17/22 |
- |
3 |
1-196706781-C-A |
c.2773C>A |
p.Q925K |
Missense |
17/22 |
- |
3 |
1-196706783-G-T |
c.2775G>T |
p.Q925H |
Missense |
17/22 |
- |
1 |
1-196706784-T-C |
c.2776T>C |
p.C926R |
Missense |
17/22 |
- |
2 |
1-196706784-TG-AC |
c.2776_2777delinsAC |
p.C926T |
Missense |
17/22 |
- |
1 |
1-196706785-G-T |
c.2777G>T |
p.C926F |
Missense |
17/22 |
- |
2 |
1-196706787-G-A |
c.2779G>A |
p.E927K |
Missense |
17/22 |
- |
2 |
1-196706789-A-C |
c.2781A>C |
p.E927D |
Missense |
17/22 |
- |
1 |
1-196706790-G-T |
c.2782G>T |
p.G928C |
Missense |
17/22 |
- |
1 |
1-196706792-T-C |
c.2782+2T>C |
- |
IntronicSNV |
- |
17/21 |
1 |
1-196708455-A-G |
c.2783-1294A>G |
- |
IntronicSNV |
- |
17/21 |
2 |
1-196708455-A-T |
c.2783-1294A>T |
- |
IntronicSNV |
- |
17/21 |
2 |
1-196708891-G-T |
c.2783-858G>T |
- |
IntronicSNV |
- |
17/21 |
3 |
1-196709223-A-T |
c.2783-526A>T |
- |
IntronicSNV |
- |
17/21 |
3 |
1-196709749-G-T |
c.2783G>T |
p.G928V |
Missense |
18/22 |
- |
1 |
1-196709750-C-A |
c.2784C>A |
p.G928= |
Synonymous |
18/22 |
- |
1 |
1-196709750-C-G |
c.2784C>G |
p.G928= |
Synonymous |
18/22 |
- |
1 |
1-196709750-C-T |
c.2784C>T |
p.G928= |
Synonymous |
18/22 |
- |
1 |
1-196709754-C-T |
c.2788C>T |
p.P930S |
Missense |
18/22 |
- |
3 |
1-196709755-C-T |
c.2789C>T |
p.P930L |
Missense |
18/22 |
- |
2 |
1-196709758-G-A |
c.2792G>A |
p.C931Y |
Missense |
18/22 |
- |
5 |
1-196709759-T-C |
c.2793T>C |
p.C931= |
Synonymous |
18/22 |
- |
1 |
1-196709761-A-C |
c.2795A>C |
p.K932T |
Missense |
18/22 |
- |
1 |
1-196709762-A-C |
c.2796A>C |
p.K932N |
Missense |
18/22 |
- |
1 |
1-196709762-A-T |
c.2796A>T |
p.K932N |
Missense |
18/22 |
- |
1 |
1-196709764-C-A |
c.2798C>A |
p.S933Y |
Missense |
18/22 |
- |
1 |
1-196709764-C-T |
c.2798C>T |
p.S933F |
Missense |
18/22 |
- |
6 |
1-196709765-T-A |
c.2799T>A |
p.S933= |
Synonymous |
18/22 |
- |
1 |
1-196709766-C-T |
c.2800C>T |
p.P934S |
Missense |
18/22 |
- |
4 |
1-196709767-C-T |
c.2801C>T |
p.P934L |
Missense |
18/22 |
- |
2 |
1-196709770-C-T |
c.2804C>T |
p.P935L |
Missense |
18/22 |
- |
1 |
1-196709772-G-A |
c.2806G>A |
p.E936K |
Missense |
18/22 |
- |
5 |
1-196709774-G-C |
c.2808G>C |
p.E936D |
Missense |
18/22 |
- |
13 |
1-196709774-G-T |
c.2808G>T |
p.E936D |
Missense |
18/22 |
- |
160 |
1-196709775-A-G |
c.2809A>G |
p.I937V |
Missense |
18/22 |
- |
1 |
1-196709778-T-A |
c.2812T>A |
p.S938T |
Missense |
18/22 |
- |
2 |
1-196709778-T-C |
c.2812T>C |
p.S938P |
Missense |
18/22 |
- |
1 |
1-196709779-C-A |
c.2813C>A |
p.S938Y |
Missense |
18/22 |
- |
1 |
1-196709779-C-T |
c.2813C>T |
p.S938F |
Missense |
18/22 |
- |
7 |
1-196709780-T-A |
c.2814T>A |
p.S938= |
Synonymous |
18/22 |
- |
2 |
1-196709780-T-C |
c.2814T>C |
p.S938= |
Synonymous |
18/22 |
- |
1 |
1-196709780-T-G |
c.2814T>G |
p.S938= |
Synonymous |
18/22 |
- |
1 |
1-196709781-C-T |
c.2815C>T |
p.H939Y |
Missense |
18/22 |
- |
1 |
1-196709784-G-A |
c.2818G>A |
p.G940S |
Missense |
18/22 |
- |
1 |
1-196709785-G-A |
c.2819G>A |
p.G940D |
Missense |
18/22 |
- |
1 |
1-196709785-G-T |
c.2819G>T |
p.G940V |
Missense |
18/22 |
- |
2 |
1-196709787-G-T |
c.2821G>T |
p.V941F |
Missense |
18/22 |
- |
1 |
1-196709790-G-A |
c.2824G>A |
p.V942I |
Missense |
18/22 |
- |
1 |
1-196709789-TGTA-T |
c.2825_2827del |
p.V942del |
InFrameDeletion |
18/22 |
- |
1 |
1-196709791-TAGCTC-T |
c.2827_2831del |
p.A943Hfs*17 |
Frameshift |
18/22 |
- |
2 |
1-196709793-G-T |
c.2827G>T |
p.A943S |
Missense |
18/22 |
- |
1 |
1-196709794-C-G |
c.2828C>G |
p.A943G |
Missense |
18/22 |
- |
1 |
1-196709794-C-T |
c.2828C>T |
p.A943V |
Missense |
18/22 |
- |
2 |
1-196709797-A-C |
c.2831A>C |
p.H944P |
Missense |
18/22 |
- |
1 |
1-196709798-C-A |
c.2832C>A |
p.H944Q |
Missense |
18/22 |
- |
1 |
1-196709801-G-A |
c.2835G>A |
p.M945I |
Missense |
18/22 |
- |
6 |
1-196709801-G-C |
c.2835G>C |
p.M945I |
Missense |
18/22 |
- |
5 |
1-196709801-G-T |
c.2835G>T |
p.M945I |
Missense |
18/22 |
- |
6 |
1-196709802-T-C |
c.2836T>C |
p.S946P |
Missense |
18/22 |
- |
2 |
1-196709803-CA-TT |
c.2837_2838delinsTT |
p.S946F |
Missense |
18/22 |
- |
1 |
1-196709803-C-T |
c.2837C>T |
p.S946L |
Missense |
18/22 |
- |
1 |
1-196709805-G-A |
c.2839G>A |
p.D947N |
Missense |
18/22 |
- |
1 |
1-196709805-G-C |
c.2839G>C |
p.D947H |
Missense |
18/22 |
- |
1 |
1-196709806-A-G |
c.2840A>G |
p.D947G |
Missense |
18/22 |
- |
1 |
1-196709811-T-C |
c.2845T>C |
p.Y949H |
Missense |
18/22 |
- |
1 |
1-196709814-C-A |
c.2848C>A |
p.Q950K |
Missense |
18/22 |
- |
1 |
1-196709814-C-T |
c.2848C>T |
p.Q950* |
Nonsense |
18/22 |
- |
1 |
1-196709815-A-C |
c.2849A>C |
p.Q950P |
Missense |
18/22 |
- |
1 |
1-196709816-G-A |
c.2850G>A |
p.Q950= |
Synonymous |
18/22 |
- |
6 |
1-196709816-G-C |
c.2850G>C |
p.Q950H |
Missense |
18/22 |
- |
15 |
1-196709816-G-T |
c.2850G>T |
p.Q950H |
Missense |
18/22 |
- |
58 |
1-196709817-T-C |
c.2851T>C |
p.Y951H |
Missense |
18/22 |
- |
3 |
1-196709820-G-A |
c.2854G>A |
p.G952R |
Missense |
18/22 |
- |
1 |
1-196709820-G-C |
c.2854G>C |
p.G952R |
Missense |
18/22 |
- |
1 |
1-196709820-GGA-TGT |
c.2854_2856delinsTGT |
p.G952C |
Missense |
18/22 |
- |
1 |
1-196709821-G-A |
c.2855G>A |
p.G952E |
Missense |
18/22 |
- |
2 |
1-196709823-G-A |
c.2857G>A |
p.E953K |
Missense |
18/22 |
- |
2 |
1-196709826-G-A |
c.2860G>A |
p.E954K |
Missense |
18/22 |
- |
1 |
1-196709827-A-G |
c.2861A>G |
p.E954G |
Missense |
18/22 |
- |
1 |
1-196709827-GAA-G |
c.2861_2862del |
p.E954Gfs*7 |
Frameshift |
18/22 |
- |
1 |
1-196709830-T-C |
c.2864T>C |
p.V955A |
Missense |
18/22 |
- |
1 |
1-196709831-T-A |
c.2865T>A |
p.V955= |
Synonymous |
18/22 |
- |
1 |
1-196709831-T-C |
c.2865T>C |
p.V955= |
Synonymous |
18/22 |
- |
1 |
1-196709831-T-G |
c.2865T>G |
p.V955= |
Synonymous |
18/22 |
- |
1 |
1-196709833-AC-A |
c.2867del |
p.T956Sfs*19 |
Frameshift |
18/22 |
- |
1 |
1-196709833-C-T |
c.2867C>T |
p.T956M |
Missense |
18/22 |
- |
34 |
1-196709834-G-A |
c.2868G>A |
p.T956= |
Synonymous |
18/22 |
- |
2 |
1-196709834-G-C |
c.2868G>C |
p.T956= |
Synonymous |
18/22 |
- |
1 |
1-196709834-G-T |
c.2868G>T |
p.T956= |
Synonymous |
18/22 |
- |
1 |
1-196709835-GT-G |
c.2869del |
p.Y957Tfs*18 |
Frameshift |
18/22 |
- |
1 |
1-196709837-C-T |
c.2871C>T |
p.Y957= |
Synonymous |
18/22 |
- |
1 |
1-196709839-A-C |
c.2873A>C |
p.K958T |
Missense |
18/22 |
- |
1 |
1-196709840-A-C |
c.2874A>C |
p.K958N |
Missense |
18/22 |
- |
1 |
1-196709840-A-G |
c.2874A>G |
p.K958= |
Synonymous |
18/22 |
- |
1 |
1-196709840-A-T |
c.2874A>T |
p.K958N |
Missense |
18/22 |
- |
1 |
1-196709841-T-A |
c.2875T>A |
p.C959S |
Missense |
18/22 |
- |
1 |
1-196709842-G-A |
c.2876G>A |
p.C959Y |
Missense |
18/22 |
- |
8 |
1-196709842-G-C |
c.2876G>C |
p.C959S |
Missense |
18/22 |
- |
2 |
1-196709844-T-C |
c.2878T>C |
p.F960L |
Missense |
18/22 |
- |
1 |
1-196709842-GTT-G |
c.2879_2880del |
p.F960* |
Frameshift |
18/22 |
- |
1 |
1-196709845-T-A |
c.2879T>A |
p.F960Y |
Missense |
18/22 |
- |
1 |
1-196709845-T-C |
c.2879T>C |
p.F960S |
Missense |
18/22 |
- |
5 |
1-196709845-T-G |
c.2879T>G |
p.F960C |
Missense |
18/22 |
- |
2 |
1-196709842-G-GT |
c.2880dup |
p.E961* |
Nonsense |
18/22 |
- |
1 |
1-196709842-GT-G |
c.2880del |
p.F960Lfs*15 |
Frameshift |
18/22 |
- |
1 |
1-196709847-G-A |
c.2881G>A |
p.E961K |
Missense |
18/22 |
- |
1 |
1-196709847-G-T |
c.2881G>T |
p.E961* |
Nonsense |
18/22 |
- |
1 |
1-196709850-G-C |
c.2884G>C |
p.G962R |
Missense |
18/22 |
- |
1 |
1-196709852-T-A |
c.2886T>A |
p.G962= |
Synonymous |
18/22 |
- |
1 |
1-196709852-T-C |
c.2886T>C |
p.G962= |
Synonymous |
18/22 |
- |
1 |
1-196709852-T-G |
c.2886T>G |
p.G962= |
Synonymous |
18/22 |
- |
1 |
1-196709856-GGA-TGT |
c.2890_2892delinsTGT |
p.G964C |
Missense |
18/22 |
- |
1 |
1-196709856-G-T |
c.2890G>T |
p.G964* |
Nonsense |
18/22 |
- |
1 |
1-196709857-G-A |
c.2891G>A |
p.G964E |
Missense |
18/22 |
- |
3 |
1-196709857-G-C |
c.2891G>C |
p.G964A |
Missense |
18/22 |
- |
2 |
1-196709862-G-A |
c.2896G>A |
p.D966N |
Missense |
18/22 |
- |
7 |
1-196709862-G-C |
c.2896G>C |
p.D966H |
Missense |
18/22 |
- |
1 |
1-196709865-G-A |
c.2899G>A |
p.G967R |
Missense |
18/22 |
- |
2 |
1-196709865-G-C |
c.2899G>C |
p.G967R |
Missense |
18/22 |
- |
1 |
1-196709865-G-T |
c.2899G>T |
p.G967W |
Missense |
18/22 |
- |
3 |
1-196709866-G-C |
c.2900G>C |
p.G967A |
Missense |
18/22 |
- |
1 |
1-196709869-C-A |
c.2903C>A |
p.P968H |
Missense |
18/22 |
- |
1 |
1-196709871-G-T |
c.2905G>T |
p.A969S |
Missense |
18/22 |
- |
1 |
1-196709872-C-T |
c.2906C>T |
p.A969V |
Missense |
18/22 |
- |
1 |
1-196709874-A-G |
c.2908A>G |
p.I970V |
Missense |
18/22 |
- |
3 |
1-196709875-T-C |
c.2909T>C |
p.I970T |
Missense |
18/22 |
- |
2 |
1-196709877-G-A |
c.2911G>A |
p.A971T |
Missense |
18/22 |
- |
2 |
1-196709877-G-C |
c.2911G>C |
p.A971P |
Missense |
18/22 |
- |
1 |
1-196709880-A-G |
c.2914A>G |
p.K972E |
Missense |
18/22 |
- |
1 |
1-196709883-T-A |
c.2917T>A |
p.C973S |
Missense |
18/22 |
- |
1 |
1-196709884-G-C |
c.2918G>C |
p.C973S |
Missense |
18/22 |
- |
1 |
1-196709884-G-A |
c.2918G>A |
p.C973Y |
Missense |
18/22 |
- |
5 |
1-196709884-G-T |
c.2918G>T |
p.C973F |
Missense |
18/22 |
- |
2 |
1-196709889-G-A |
c.2923G>A |
p.G975R |
Missense |
18/22 |
- |
1 |
1-196709890-G-A |
c.2924G>A |
p.G975E |
Missense |
18/22 |
- |
5 |
1-196709892-G-A |
c.2926G>A |
p.E976K |
Missense |
18/22 |
- |
4 |
1-196709894-A-G |
c.2928A>G |
p.E976= |
Synonymous |
18/22 |
- |
2 |
1-196709892-G-GA |
c.2931dup |
p.W978Mfs*17 |
Frameshift |
18/22 |
- |
1 |
1-196709897-A-G |
c.2931A>G |
p.K977= |
Synonymous |
18/22 |
- |
1 |
1-196709898-T-C |
c.2932T>C |
p.W978R |
Missense |
18/22 |
- |
1 |
1-196709898-T-G |
c.2932T>G |
p.W978G |
Missense |
18/22 |
- |
1 |
1-196709899-G-T |
c.2933G>T |
p.W978L |
Missense |
18/22 |
- |
1 |
1-196709900-G-C |
c.2934G>C |
p.W978C |
Missense |
18/22 |
- |
3 |
1-196709900-G-T |
c.2934G>T |
p.W978C |
Missense |
18/22 |
- |
3 |
1-196709902-C-G |
c.2936C>G |
p.S979C |
Missense |
18/22 |
- |
1 |
1-196709902-C-T |
c.2936C>T |
p.S979F |
Missense |
18/22 |
- |
1 |
1-196709904-C-T |
c.2938C>T |
p.H980Y |
Missense |
18/22 |
- |
3 |
1-196709906-C-T |
c.2940C>T |
p.H980= |
Synonymous |
18/22 |
- |
1 |
1-196709907-C-T |
c.2941C>T |
p.P981S |
Missense |
18/22 |
- |
4 |
1-196709910-C-T |
c.2944C>T |
p.P982S |
Missense |
18/22 |
- |
2 |
1-196709916-T-C |
c.2950T>C |
p.C984R |
Missense |
18/22 |
- |
1 |
1-196709916-T-G |
c.2950T>G |
p.C984G |
Missense |
18/22 |
- |
3 |
1-196709918-C-T |
c.2952C>T |
p.C984= |
Synonymous |
18/22 |
- |
1 |
1-196709922-A-G |
c.2956A>G |
p.K986E |
Missense |
18/22 |
- |
1 |
1-196710157-C-T |
c.2956+235C>T |
- |
IntronicSNV |
- |
18/21 |
14 |
1-196710916-T-C |
c.2957-89T>C |
- |
IntronicSNV |
- |
18/21 |
6 |
1-196711006-A-G |
c.2958A>G |
p.K986= |
Synonymous |
19/22 |
- |
2 |
1-196711010-G-A |
c.2962G>A |
p.D988N |
Missense |
19/22 |
- |
1 |
1-196711010-G-T |
c.2962G>T |
p.D988Y |
Missense |
19/22 |
- |
1 |
1-196711012-T-C |
c.2964T>C |
p.D988= |
Synonymous |
19/22 |
- |
1 |
1-196711012-T-G |
c.2964T>G |
p.D988E |
Missense |
19/22 |
- |
1 |
1-196711013-T-G |
c.2965T>G |
p.C989G |
Missense |
19/22 |
- |
4 |
1-196711024-A-C |
c.2976A>C |
p.L992F |
Missense |
19/22 |
- |
1 |
1-196711024-A-T |
c.2976A>T |
p.L992F |
Missense |
19/22 |
- |
1 |
1-196711025-C-T |
c.2977C>T |
p.P993S |
Missense |
19/22 |
- |
1 |
1-196711028-AG-CT |
c.2980_2981inv |
p.S994L |
Missense |
19/22 |
- |
1 |
1-196711029-G-T |
c.2981G>T |
p.S994I |
Missense |
19/22 |
- |
4 |
1-196711033-T-A |
c.2985T>A |
p.F995L |
Missense |
19/22 |
- |
1 |
1-196711034-G-C |
c.2986G>C |
p.E996Q |
Missense |
19/22 |
- |
1 |
1-196711038-A-C |
c.2990A>C |
p.N997T |
Missense |
19/22 |
- |
2 |
1-196711039-T-C |
c.2991T>C |
p.N997= |
Synonymous |
19/22 |
- |
1 |
1-196711041-C-T |
c.2993C>T |
p.A998V |
Missense |
19/22 |
- |
5 |
1-196711046-C-T |
c.2998C>T |
p.P1000S |
Missense |
19/22 |
- |
4 |
1-196711052-G-A |
c.3004G>A |
p.G1002R |
Missense |
19/22 |
- |
2 |
1-196711052-G-C |
c.3004G>C |
p.G1002R |
Missense |
19/22 |
- |
4 |
1-196711053-G-A |
c.3005G>A |
p.G1002E |
Missense |
19/22 |
- |
1 |
1-196711055-G-A |
c.3007G>A |
p.E1003K |
Missense |
19/22 |
- |
2 |
1-196711055-G-T |
c.3007G>T |
p.E1003* |
Nonsense |
19/22 |
- |
2 |
1-196711060-G-A |
c.3012G>A |
p.K1004= |
Synonymous |
19/22 |
- |
3 |
1-196711060-G-C |
c.3012G>C |
p.K1004N |
Missense |
19/22 |
- |
1 |
1-196711060-G-T |
c.3012G>T |
p.K1004N |
Missense |
19/22 |
- |
2 |
1-196711055-GAGA-G |
c.3013_3015del |
p.K1005del |
InFrameDeletion |
19/22 |
- |
1 |
1-196711067-G-A |
c.3019G>A |
p.V1007M |
Missense |
19/22 |
- |
4 |
1-196711067-G-C |
c.3019G>C |
p.V1007L |
Missense |
19/22 |
- |
12 |
1-196711067-G-T |
c.3019G>T |
p.V1007L |
Missense |
19/22 |
- |
17 |
1-196711067-GTG-ATC |
c.3019_3021delinsATC |
p.V1007I |
Missense |
19/22 |
- |
3 |
1-196711072-T-A |
c.3024T>A |
p.Y1008* |
Nonsense |
19/22 |
- |
1 |
1-196711072-T-G |
c.3024T>G |
p.Y1008* |
Nonsense |
19/22 |
- |
1 |
1-196711076-G-A |
c.3028G>A |
p.A1010T |
Missense |
19/22 |
- |
2 |
1-196711077-C-T |
c.3029C>T |
p.A1010V |
Missense |
19/22 |
- |
5 |
1-196711078-G-A |
c.3030G>A |
p.A1010= |
Synonymous |
19/22 |
- |
2 |
1-196711079-G-A |
c.3031G>A |
p.G1011S |
Missense |
19/22 |
- |
6 |
1-196711079-GG-AC |
c.3031_3032delinsAC |
p.G1011T |
Missense |
19/22 |
- |
1 |
1-196711079-GG-TT |
c.3031_3032delinsTT |
p.G1011F |
Missense |
19/22 |
- |
1 |
1-196711080-G-T |
c.3032G>T |
p.G1011V |
Missense |
19/22 |
- |
1 |
1-196711082-G-A |
c.3034G>A |
p.E1012K |
Missense |
19/22 |
- |
1 |
1-196711083-A-T |
c.3035A>T |
p.E1012V |
Missense |
19/22 |
- |
1 |
1-196711083-A-AG |
c.3036dup |
p.Q1013Afs*17 |
Frameshift |
19/22 |
- |
1 |
1-196711084-G-T |
c.3036G>T |
p.E1012D |
Missense |
19/22 |
- |
1 |
1-196711088-G-A |
c.3040G>A |
p.V1014M |
Missense |
19/22 |
- |
1 |
1-196711094-T-G |
c.3046T>G |
p.Y1016D |
Missense |
19/22 |
- |
2 |
1-196711095-A-G |
c.3047A>G |
p.Y1016C |
Missense |
19/22 |
- |
1 |
1-196711096-C-A |
c.3048C>A |
p.Y1016* |
Nonsense |
19/22 |
- |
2 |
1-196711096-C-G |
c.3048C>G |
p.Y1016* |
Nonsense |
19/22 |
- |
1 |
1-196711098-C-T |
c.3050C>T |
p.T1017I |
Missense |
19/22 |
- |
11 |
1-196711102-T-A |
c.3054T>A |
p.C1018* |
Nonsense |
19/22 |
- |
1 |
1-196711104-C-T |
c.3056C>T |
p.A1019V |
Missense |
19/22 |
- |
2 |
1-196711108-A-T |
c.3060A>T |
p.T1020= |
Synonymous |
19/22 |
- |
1 |
1-196711109-T-C |
c.3061T>C |
p.Y1021H |
Missense |
19/22 |
- |
2 |
1-196711110-A-T |
c.3062A>T |
p.Y1021F |
Missense |
19/22 |
- |
5 |
1-196711113-A-G |
c.3065A>G |
p.Y1022C |
Missense |
19/22 |
- |
9 |
1-196711114-C-A |
c.3066C>A |
p.Y1022* |
Nonsense |
19/22 |
- |
1 |
1-196711114-C-G |
c.3066C>G |
p.Y1022* |
Nonsense |
19/22 |
- |
1 |
1-196711120-G-A |
c.3072G>A |
p.M1024I |
Missense |
19/22 |
- |
2 |
1-196711120-G-C |
c.3072G>C |
p.M1024I |
Missense |
19/22 |
- |
2 |
1-196711120-G-T |
c.3072G>T |
p.M1024I |
Missense |
19/22 |
- |
2 |
1-196711119-TG-T |
c.3073del |
p.D1025Mfs*6 |
Frameshift |
19/22 |
- |
1 |
1-196711125-G-A |
c.3077G>A |
p.G1026E |
Missense |
19/22 |
- |
2 |
1-196711127-G-C |
c.3079G>C |
p.A1027P |
Missense |
19/22 |
- |
4 |
1-196711133-AAT-TAA |
c.3085_3087delinsTAA |
p.N1029* |
Nonsense |
19/22 |
- |
1 |
1-196711136-G-A |
c.3088G>A |
p.V1030I |
Missense |
19/22 |
- |
1 |
1-196711137-T-C |
c.3089T>C |
p.V1030A |
Missense |
19/22 |
- |
1 |
1-196711139-A-T |
c.3091A>T |
p.T1031S |
Missense |
19/22 |
- |
1 |
1-196711140-C-A |
c.3092C>A |
p.T1031K |
Missense |
19/22 |
- |
1 |
1-196711140-CA-TG |
c.3092_3093inv |
p.T1031M |
Missense |
19/22 |
- |
1 |
1-196711142-T-A |
c.3094T>A |
p.C1032S |
Missense |
19/22 |
- |
1 |
1-196711142-TG-GC |
c.3094_3095delinsGC |
p.C1032A |
Missense |
19/22 |
- |
1 |
1-196711143-G-C |
c.3095G>C |
p.C1032S |
Missense |
19/22 |
- |
1 |
1-196711144-C-A |
c.3096C>A |
p.C1032* |
Nonsense |
19/22 |
- |
3 |
1-196711146-T-A |
c.3098T>A |
p.I1033N |
Missense |
19/22 |
- |
1 |
1-196711151-A-G |
c.3103A>G |
p.S1035G |
Missense |
19/22 |
- |
1 |
1-196711152-G-A |
c.3104G>A |
p.S1035N |
Missense |
19/22 |
- |
2 |
1-196711152-G-T |
c.3104G>T |
p.S1035I |
Missense |
19/22 |
- |
1 |
1-196711153-C-G |
c.3105C>G |
p.S1035R |
Missense |
19/22 |
- |
1 |
1-196711155-G-A |
c.3107G>A |
p.R1036K |
Missense |
19/22 |
- |
1 |
1-196711158-G-A |
c.3110G>A |
p.W1037* |
Nonsense |
19/22 |
- |
4 |
1-196711159-G-A |
c.3111G>A |
p.W1037* |
Nonsense |
19/22 |
- |
1 |
1-196711160-A-G |
c.3112A>G |
p.T1038A |
Missense |
19/22 |
- |
1 |
1-196711161-C-G |
c.3113C>G |
p.T1038R |
Missense |
19/22 |
- |
1 |
1-196711162-A-C |
c.3114A>C |
p.T1038= |
Synonymous |
19/22 |
- |
1 |
1-196711162-A-G |
c.3114A>G |
p.T1038= |
Synonymous |
19/22 |
- |
1 |
1-196711162-A-T |
c.3114A>T |
p.T1038= |
Synonymous |
19/22 |
- |
1 |
1-196711163-GGA-TGT |
c.3115_3117delinsTGT |
p.G1039C |
Missense |
19/22 |
- |
1 |
1-196711166-A-G |
c.3118A>G |
p.R1040G |
Missense |
19/22 |
- |
1 |
1-196711166-AG-CA |
c.3118_3119delinsCA |
p.R1040Q |
Missense |
19/22 |
- |
1 |
1-196711168-G-A |
c.3120G>A |
p.R1040= |
Synonymous |
19/22 |
- |
1 |
1-196711169-C-T |
c.3121C>T |
p.P1041S |
Missense |
19/22 |
- |
1 |
1-196711171-A-C |
c.3123A>C |
p.P1041= |
Synonymous |
19/22 |
- |
1 |
1-196711175-T-C |
c.3127T>C |
p.C1043R |
Missense |
19/22 |
- |
4 |
1-196711176-G-A |
c.3128G>A |
p.C1043Y |
Missense |
19/22 |
- |
1 |
1-196711177-C-A |
c.3129C>A |
p.C1043* |
Nonsense |
19/22 |
- |
1 |
1-196711178-A-G |
c.3130A>G |
p.R1044G |
Missense |
19/22 |
- |
1 |
1-196711179-G-A |
c.3131G>A |
p.R1044K |
Missense |
19/22 |
- |
1 |
1-196711179-G-C |
c.3131G>C |
p.R1044T |
Missense |
19/22 |
- |
2 |
1-196711179-G-T |
c.3131G>T |
p.R1044I |
Missense |
19/22 |
- |
2 |
1-196711181-G-A |
c.3133G>A |
p.D1045N |
Missense |
19/22 |
- |
1 |
1-196711181-G-T |
c.3133G>T |
p.D1045Y |
Missense |
19/22 |
- |
1 |
1-196711182-G-A |
c.3133+1G>A |
- |
IntronicSNV |
- |
19/21 |
2 |
1-196711185-C-G |
c.3133+4C>G |
- |
IntronicSNV |
- |
19/21 |
3 |
1-196711240-TGG-T |
c.3133+59_3133+60del |
- |
IntronicDeletion |
- |
19/21 |
1 |
1-196711302-C-A |
c.3133+121C>A |
- |
IntronicSNV |
- |
19/21 |
1 |
1-196711302-C-T |
c.3133+121C>T |
- |
IntronicSNV |
- |
19/21 |
1 |
1-196711350-CA-C |
c.3133+176del |
- |
IntronicDeletion |
- |
19/21 |
1 |
1-196711380-T-A |
c.3133+199T>A |
- |
IntronicSNV |
- |
19/21 |
1 |
1-196711501-G-A |
c.3133+320G>A |
- |
IntronicSNV |
- |
19/21 |
1 |
1-196712522-C-T |
c.3134-60C>T |
- |
IntronicSNV |
- |
19/21 |
3 |
1-196712577-T-A |
c.3134-5T>A |
- |
IntronicSNV |
- |
19/21 |
16 |
1-196712577-T-C |
c.3134-5T>C |
- |
IntronicSNV |
- |
19/21 |
16 |
1-196712582-A-C |
c.3134A>C |
p.D1045A |
Missense |
20/22 |
- |
1 |
1-196712585-C-A |
c.3137C>A |
p.T1046N |
Missense |
20/22 |
- |
1 |
1-196712585-C-T |
c.3137C>T |
p.T1046I |
Missense |
20/22 |
- |
1 |
1-196712586-C-A |
c.3138C>A |
p.T1046= |
Synonymous |
20/22 |
- |
3 |
1-196712586-C-G |
c.3138C>G |
p.T1046= |
Synonymous |
20/22 |
- |
3 |
1-196712586-C-T |
c.3138C>T |
p.T1046= |
Synonymous |
20/22 |
- |
21 |
1-196712587-T-G |
c.3139T>G |
p.S1047A |
Missense |
20/22 |
- |
2 |
1-196712590-T-A |
c.3142T>A |
p.C1048S |
Missense |
20/22 |
- |
1 |
1-196712591-G-A |
c.3143G>A |
p.C1048Y |
Missense |
20/22 |
- |
1 |
1-196712591-G-C |
c.3143G>C |
p.C1048S |
Missense |
20/22 |
- |
2 |
1-196712595-G-A |
c.3147G>A |
p.V1049= |
Synonymous |
20/22 |
- |
1 |
1-196712596-A-T |
c.3148A>T |
p.N1050Y |
Missense |
20/22 |
- |
38 |
1-196712598-T-C |
c.3150T>C |
p.N1050= |
Synonymous |
20/22 |
- |
1 |
1-196712600-C-T |
c.3152C>T |
p.P1051L |
Missense |
20/22 |
- |
5 |
1-196712601-G-A |
c.3153G>A |
p.P1051= |
Synonymous |
20/22 |
- |
2 |
1-196712601-G-C |
c.3153G>C |
p.P1051= |
Synonymous |
20/22 |
- |
1 |
1-196712601-G-T |
c.3153G>T |
p.P1051= |
Synonymous |
20/22 |
- |
1 |
1-196712606-CA-TG |
c.3158_3159inv |
p.T1053M |
Missense |
20/22 |
- |
1 |
1-196712608-G-A |
c.3160G>A |
p.V1054I |
Missense |
20/22 |
- |
5 |
1-196712611-C-T |
c.3163C>T |
p.Q1055* |
Nonsense |
20/22 |
- |
1 |
1-196712616-T-C |
c.3168T>C |
p.N1056= |
Synonymous |
20/22 |
- |
1 |
1-196712617-G-C |
c.3169G>C |
p.A1057P |
Missense |
20/22 |
- |
1 |
1-196712618-C-G |
c.3170C>G |
p.A1057G |
Missense |
20/22 |
- |
1 |
1-196712620-T-C |
c.3172T>C |
p.Y1058H |
Missense |
20/22 |
- |
15 |
1-196712623-A-G |
c.3175A>G |
p.I1059V |
Missense |
20/22 |
- |
1 |
1-196712624-T-C |
c.3176T>C |
p.I1059T |
Missense |
20/22 |
- |
9 |
1-196712626-G-C |
c.3178G>C |
p.V1060L |
Missense |
20/22 |
- |
13 |
1-196712626-G-T |
c.3178G>T |
p.V1060L |
Missense |
20/22 |
- |
2 |
1-196712627-T-C |
c.3179T>C |
p.V1060A |
Missense |
20/22 |
- |
8 |
1-196712628-G-A |
c.3180G>A |
p.V1060= |
Synonymous |
20/22 |
- |
1 |
1-196712628-G-C |
c.3180G>C |
p.V1060= |
Synonymous |
20/22 |
- |
1 |
1-196712628-G-T |
c.3180G>T |
p.V1060= |
Synonymous |
20/22 |
- |
2 |
1-196712629-T-C |
c.3181T>C |
p.S1061P |
Missense |
20/22 |
- |
1 |
1-196712633-G-A |
c.3185G>A |
p.R1062K |
Missense |
20/22 |
- |
2 |
1-196712640-G-A |
c.3192G>A |
p.M1064I |
Missense |
20/22 |
- |
5 |
1-196712640-G-C |
c.3192G>C |
p.M1064I |
Missense |
20/22 |
- |
3 |
1-196712640-G-T |
c.3192G>T |
p.M1064I |
Missense |
20/22 |
- |
3 |
1-196712641-A-T |
c.3193A>T |
p.S1065C |
Missense |
20/22 |
- |
2 |
1-196712645-A-T |
c.3197A>T |
p.K1066I |
Missense |
20/22 |
- |
1 |
1-196712650-C-T |
c.3202C>T |
p.P1068S |
Missense |
20/22 |
- |
3 |
1-196712651-C-T |
c.3203C>T |
p.P1068L |
Missense |
20/22 |
- |
2 |
1-196712655-T-C |
c.3207T>C |
p.S1069= |
Synonymous |
20/22 |
- |
2 |
1-196712656-G-A |
c.3208G>A |
p.G1070S |
Missense |
20/22 |
- |
3 |
1-196712657-G-C |
c.3209G>C |
p.G1070A |
Missense |
20/22 |
- |
1 |
1-196712658-GT-G |
c.3210del |
p.E1071Rfs*19 |
Frameshift |
20/22 |
- |
1 |
1-196712659-G-A |
c.3211G>A |
p.E1071K |
Missense |
20/22 |
- |
1 |
1-196712659-G-T |
c.3211G>T |
p.E1071* |
Nonsense |
20/22 |
- |
1 |
1-196712661-G-C |
c.3213G>C |
p.E1071D |
Missense |
20/22 |
- |
1 |
1-196712661-G-GT |
c.3213_3214insT |
p.R1072* |
Nonsense |
20/22 |
- |
1 |
1-196712658-TGA-T |
c.3216_3217del |
p.R1072Sfs*6 |
Frameshift |
20/22 |
- |
1 |
1-196712662-A-C |
c.3214A>C |
p.R1072= |
Synonymous |
20/22 |
- |
1 |
1-196712664-A-G |
c.3216A>G |
p.R1072= |
Synonymous |
20/22 |
- |
1 |
1-196712667-A-G |
c.3219A>G |
p.V1073= |
Synonymous |
20/22 |
- |
1 |
1-196712668-C-T |
c.3220C>T |
p.R1074C |
Missense |
20/22 |
- |
1 |
1-196712669-G-A |
c.3221G>A |
p.R1074H |
Missense |
20/22 |
- |
1 |
1-196712669-G-C |
c.3221G>C |
p.R1074P |
Missense |
20/22 |
- |
2 |
1-196712674-C-G |
c.3226C>G |
p.Q1076E |
Missense |
20/22 |
- |
18 |
1-196712677-TG-AC |
c.3229_3230delinsAC |
p.C1077T |
Missense |
20/22 |
- |
1 |
1-196712677-TG-GC |
c.3229_3230delinsGC |
p.C1077A |
Missense |
20/22 |
- |
1 |
1-196712679-T-G |
c.3231T>G |
p.C1077W |
Missense |
20/22 |
- |
5 |
1-196712681-G-T |
c.3233G>T |
p.R1078M |
Missense |
20/22 |
- |
3 |
1-196712682-G-A |
c.3234G>A |
p.R1078= |
Synonymous |
20/22 |
- |
1 |
1-196712682-G-C |
c.3234G>C |
p.R1078S |
Missense |
20/22 |
- |
8 |
1-196712682-G-T |
c.3234G>T |
p.R1078S |
Missense |
20/22 |
- |
13 |
1-196712686-C-T |
c.3238C>T |
p.P1080S |
Missense |
20/22 |
- |
2 |
1-196712687-C-T |
c.3239C>T |
p.P1080L |
Missense |
20/22 |
- |
2 |
1-196712692-G-A |
c.3244G>A |
p.E1082K |
Missense |
20/22 |
- |
4 |
1-196712697-G-A |
c.3249G>A |
p.M1083I |
Missense |
20/22 |
- |
2 |
1-196712697-G-C |
c.3249G>C |
p.M1083I |
Missense |
20/22 |
- |
1 |
1-196712697-G-T |
c.3249G>T |
p.M1083I |
Missense |
20/22 |
- |
2 |
1-196712698-T-C |
c.3250T>C |
p.F1084L |
Missense |
20/22 |
- |
1 |
1-196712700-T-A |
c.3252T>A |
p.F1084L |
Missense |
20/22 |
- |
1 |
1-196712700-T-G |
c.3252T>G |
p.F1084L |
Missense |
20/22 |
- |
1 |
1-196712701-G-T |
c.3253G>T |
p.G1085W |
Missense |
20/22 |
- |
1 |
1-196712703-G-T |
c.3255G>T |
p.G1085= |
Synonymous |
20/22 |
- |
1 |
1-196712705-A-G |
c.3257A>G |
p.D1086G |
Missense |
20/22 |
- |
1 |
1-196712708-A-G |
c.3260A>G |
p.E1087G |
Missense |
20/22 |
- |
1 |
1-196712709-A-AT |
c.3261_3262insT |
p.E1088* |
Nonsense |
20/22 |
- |
1 |
1-196712710-G-T |
c.3262G>T |
p.E1088* |
Nonsense |
20/22 |
- |
1 |
1-196712711-A-G |
c.3263A>G |
p.E1088G |
Missense |
20/22 |
- |
3 |
1-196712712-A-C |
c.3264A>C |
p.E1088D |
Missense |
20/22 |
- |
3 |
1-196712712-A-T |
c.3264A>T |
p.E1088D |
Missense |
20/22 |
- |
1 |
1-196712713-AGTG-A |
c.3265_3267del |
p.V1089del |
InFrameDeletion |
20/22 |
- |
1 |
1-196712717-AT-A |
c.3269del |
p.M1090Sfs*3 |
Frameshift |
20/22 |
- |
1 |
1-196712718-G-A |
c.3270G>A |
p.M1090I |
Missense |
20/22 |
- |
1 |
1-196712718-G-C |
c.3270G>C |
p.M1090I |
Missense |
20/22 |
- |
1 |
1-196712718-G-T |
c.3270G>T |
p.M1090I |
Missense |
20/22 |
- |
1 |
1-196712728-G-A |
c.3280G>A |
p.G1094R |
Missense |
20/22 |
- |
2 |
1-196712728-G-C |
c.3280G>C |
p.G1094R |
Missense |
20/22 |
- |
2 |
1-196712728-G-T |
c.3280G>T |
p.G1094* |
Nonsense |
20/22 |
- |
1 |
1-196712729-G-A |
c.3281G>A |
p.G1094E |
Missense |
20/22 |
- |
2 |
1-196712731-AAC-TGG |
c.3283_3285delinsTGG |
p.N1095W |
Missense |
20/22 |
- |
1 |
1-196712734-T-A |
c.3286T>A |
p.W1096R |
Missense |
20/22 |
- |
2 |
1-196712734-T-C |
c.3286T>C |
p.W1096R |
Missense |
20/22 |
- |
1 |
1-196712735-G-A |
c.3287G>A |
p.W1096* |
Nonsense |
20/22 |
- |
1 |
1-196712736-G-A |
c.3288G>A |
p.W1096* |
Nonsense |
20/22 |
- |
1 |
1-196712736-G-C |
c.3288G>C |
p.W1096C |
Missense |
20/22 |
- |
2 |
1-196712736-G-T |
c.3288G>T |
p.W1096C |
Missense |
20/22 |
- |
3 |
1-196712738-C-T |
c.3290C>T |
p.T1097M |
Missense |
20/22 |
- |
2 |
1-196712739-G-A |
c.3291G>A |
p.T1097= |
Synonymous |
20/22 |
- |
1 |
1-196712739-G-C |
c.3291G>C |
p.T1097= |
Synonymous |
20/22 |
- |
1 |
1-196712739-G-T |
c.3291G>T |
p.T1097= |
Synonymous |
20/22 |
- |
1 |
1-196712740-G-A |
c.3292G>A |
p.E1098K |
Missense |
20/22 |
- |
7 |
1-196712742-A-G |
c.3294A>G |
p.E1098= |
Synonymous |
20/22 |
- |
2 |
1-196712747-C-T |
c.3299C>T |
p.P1100L |
Missense |
20/22 |
- |
1 |
1-196712749-C-G |
c.3301C>G |
p.Q1101E |
Missense |
20/22 |
- |
1 |
1-196712749-C-T |
c.3301C>T |
p.Q1101* |
Nonsense |
20/22 |
- |
1 |
1-196712758-G-GATTCTACAGGAAAAT |
c.3310_3310+1insATTCTACAGGAAAAT |
p.K1108_C1109insYSTGK |
SpliceDonorInsertion |
- |
- |
1 |
1-196712760-T-C |
c.3310+2T>C |
- |
IntronicSNV |
- |
20/21 |
1 |
1-196712902-C-T |
c.3310+144C>T |
- |
IntronicSNV |
- |
20/21 |
2 |
1-196714600-C-A |
c.3311-347C>A |
- |
IntronicSNV |
- |
20/21 |
1 |
1-196714656-T-C |
c.3311-291T>C |
- |
IntronicSNV |
- |
20/21 |
1 |
1-196714758-C-A |
c.3311-189C>A |
- |
IntronicSNV |
- |
20/21 |
1 |
1-196714758-C-T |
c.3311-189C>T |
- |
IntronicSNV |
- |
20/21 |
1 |
1-196714950-C-A |
c.3314C>A |
p.S1105Y |
Missense |
21/22 |
- |
1 |
1-196714952-ACA-TGT |
c.3316_3318inv |
p.T1106C |
Missense |
21/22 |
- |
1 |
1-196714955-G-A |
c.3319G>A |
p.G1107R |
Missense |
21/22 |
- |
4 |
1-196714955-G-C |
c.3319G>C |
p.G1107R |
Missense |
21/22 |
- |
1 |
1-196714956-G-A |
c.3320G>A |
p.G1107E |
Missense |
21/22 |
- |
11 |
1-196714960-A-T |
c.3324A>T |
p.K1108N |
Missense |
21/22 |
- |
1 |
1-196714961-T-A |
c.3325T>A |
p.C1109S |
Missense |
21/22 |
- |
1 |
1-196714962-G-C |
c.3326G>C |
p.C1109S |
Missense |
21/22 |
- |
1 |
1-196714962-G-A |
c.3326G>A |
p.C1109Y |
Missense |
21/22 |
- |
1 |
1-196714963-T-C |
c.3327T>C |
p.C1109= |
Synonymous |
21/22 |
- |
1 |
1-196714964-GGG-AGC |
c.3328_3330delinsAGC |
p.G1110S |
Missense |
21/22 |
- |
1 |
1-196714965-G-C |
c.3329G>C |
p.G1110A |
Missense |
21/22 |
- |
1 |
1-196714965-G-T |
c.3329G>T |
p.G1110V |
Missense |
21/22 |
- |
1 |
1-196714967-C-T |
c.3331C>T |
p.P1111S |
Missense |
21/22 |
- |
1 |
1-196714966-GC-G |
c.3335del |
p.P1112Lfs*39 |
Frameshift |
21/22 |
- |
1 |
1-196714977-C-T |
c.3341C>T |
p.P1114L |
Missense |
21/22 |
- |
4 |
1-196714981-T-A |
c.3345T>A |
p.I1115= |
Synonymous |
21/22 |
- |
1 |
1-196714984-C-T |
c.3348C>T |
p.D1116= |
Synonymous |
21/22 |
- |
1 |
1-196714986-A-G |
c.3350A>G |
p.N1117S |
Missense |
21/22 |
- |
6 |
1-196714988-GGG-TGT |
c.3352_3354delinsTGT |
p.G1118C |
Missense |
21/22 |
- |
1 |
1-196714988-G-T |
c.3352G>T |
p.G1118W |
Missense |
21/22 |
- |
1 |
1-196714989-G-A |
c.3353G>A |
p.G1118E |
Missense |
21/22 |
- |
1 |
1-196714989-G-T |
c.3353G>T |
p.G1118V |
Missense |
21/22 |
- |
1 |
1-196714990-G-A |
c.3354G>A |
p.G1118= |
Synonymous |
21/22 |
- |
4 |
1-196714987-TG-T |
c.3355del |
p.D1119Tfs*32 |
Frameshift |
21/22 |
- |
2 |
1-196714991-G-A |
c.3355G>A |
p.D1119N |
Missense |
21/22 |
- |
7 |
1-196714992-A-G |
c.3356A>G |
p.D1119G |
Missense |
21/22 |
- |
17 |
1-196714993-C-G |
c.3357C>G |
p.D1119E |
Missense |
21/22 |
- |
1 |
1-196714997-A-G |
c.3361A>G |
p.T1121A |
Missense |
21/22 |
- |
1 |
1-196715001-C-T |
c.3365C>T |
p.S1122L |
Missense |
21/22 |
- |
2 |
1-196715005-C-T |
c.3369C>T |
p.F1123= |
Synonymous |
21/22 |
- |
5 |
1-196715007-C-G |
c.3371C>G |
p.P1124R |
Missense |
21/22 |
- |
3 |
1-196715007-C-T |
c.3371C>T |
p.P1124L |
Missense |
21/22 |
- |
1 |
1-196715008-G-A |
c.3372G>A |
p.P1124= |
Synonymous |
21/22 |
- |
4 |
1-196715008-G-C |
c.3372G>C |
p.P1124= |
Synonymous |
21/22 |
- |
2 |
1-196715008-G-T |
c.3372G>T |
p.P1124= |
Synonymous |
21/22 |
- |
2 |
1-196715010-T-C |
c.3374T>C |
p.L1125S |
Missense |
21/22 |
- |
1 |
1-196715013-C-T |
c.3377C>T |
p.S1126L |
Missense |
21/22 |
- |
3 |
1-196715021-G-A |
c.3385G>A |
p.A1129T |
Missense |
21/22 |
- |
1 |
1-196715024-C-T |
c.3388C>T |
p.P1130S |
Missense |
21/22 |
- |
1 |
1-196715025-C-T |
c.3389C>T |
p.P1130L |
Missense |
21/22 |
- |
1 |
1-196715027-G-T |
c.3391G>T |
p.A1131S |
Missense |
21/22 |
- |
1 |
1-196715031-C-T |
c.3395C>T |
p.S1132L |
Missense |
21/22 |
- |
7 |
1-196715034-C-A |
c.3398C>A |
p.S1133* |
Nonsense |
21/22 |
- |
1 |
1-196715034-C-G |
c.3398C>G |
p.S1133* |
Nonsense |
21/22 |
- |
1 |
1-196715037-T-G |
c.3401T>G |
p.V1134G |
Missense |
21/22 |
- |
4 |
1-196715039-G-A |
c.3403G>A |
p.E1135K |
Missense |
21/22 |
- |
4 |
1-196715041-G-C |
c.3405G>C |
p.E1135D |
Missense |
21/22 |
- |
1 |
1-196715044-C-G |
c.3408C>G |
p.Y1136* |
Nonsense |
21/22 |
- |
1 |
1-196715045-C-T |
c.3409C>T |
p.Q1137* |
Nonsense |
21/22 |
- |
1 |
1-196715046-A-G |
c.3410A>G |
p.Q1137R |
Missense |
21/22 |
- |
1 |
1-196715046-A-T |
c.3410A>T |
p.Q1137L |
Missense |
21/22 |
- |
1 |
1-196715047-A-G |
c.3411A>G |
p.Q1137= |
Synonymous |
21/22 |
- |
1 |
1-196715050-C-T |
c.3414C>T |
p.C1138= |
Synonymous |
21/22 |
- |
1 |
1-196715051-C-A |
c.3415C>A |
p.Q1139K |
Missense |
21/22 |
- |
3 |
1-196715051-CA-GC |
c.3415_3416delinsGC |
p.Q1139A |
Missense |
21/22 |
- |
3 |
1-196715051-C-T |
c.3415C>T |
p.Q1139* |
Nonsense |
21/22 |
- |
5 |
1-196715053-G-A |
c.3417G>A |
p.Q1139= |
Synonymous |
21/22 |
- |
1 |
1-196715053-G-C |
c.3417G>C |
p.Q1139H |
Missense |
21/22 |
- |
1 |
1-196715053-G-T |
c.3417G>T |
p.Q1139H |
Missense |
21/22 |
- |
1 |
1-196715056-C-T |
c.3420C>T |
p.N1140= |
Synonymous |
21/22 |
- |
2 |
1-196715060-T-G |
c.3424T>G |
p.Y1142D |
Missense |
21/22 |
- |
3 |
1-196715061-A-G |
c.3425A>G |
p.Y1142C |
Missense |
21/22 |
- |
3 |
1-196715062-T-A |
c.3426T>A |
p.Y1142* |
Nonsense |
21/22 |
- |
1 |
1-196715063-C-A |
c.3427C>A |
p.Q1143K |
Missense |
21/22 |
- |
1 |
1-196715063-C-G |
c.3427C>G |
p.Q1143E |
Missense |
21/22 |
- |
8 |
1-196715067-T-C |
c.3431T>C |
p.L1144P |
Missense |
21/22 |
- |
4 |
1-196715067-T-G |
c.3431T>G |
p.L1144R |
Missense |
21/22 |
- |
5 |
1-196715070-A-C |
c.3434A>C |
p.E1145A |
Missense |
21/22 |
- |
1 |
1-196715071-G-C |
c.3435G>C |
p.E1145D |
Missense |
21/22 |
- |
2 |
1-196715071-G-T |
c.3435G>T |
p.E1145D |
Missense |
21/22 |
- |
1 |
1-196715072-GG-AC |
c.3436_3437delinsAC |
p.G1146T |
Missense |
21/22 |
- |
1 |
1-196715081-C-T |
c.3445C>T |
p.R1149* |
Nonsense |
21/22 |
- |
5 |
1-196715082-G-A |
c.3446G>A |
p.R1149Q |
Missense |
21/22 |
- |
4 |
1-196715087-A-G |
c.3451A>G |
p.T1151A |
Missense |
21/22 |
- |
1 |
1-196715088-C-T |
c.3452C>T |
p.T1151I |
Missense |
21/22 |
- |
1 |
1-196715090-T-A |
c.3454T>A |
p.C1152S |
Missense |
21/22 |
- |
4 |
1-196715099-G-A |
c.3463G>A |
p.G1155R |
Missense |
21/22 |
- |
5 |
1-196715099-G-T |
c.3463G>T |
p.G1155* |
Nonsense |
21/22 |
- |
1 |
1-196715100-G-A |
c.3464G>A |
p.G1155E |
Missense |
21/22 |
- |
1 |
1-196715100-G-T |
c.3464G>T |
p.G1155V |
Missense |
21/22 |
- |
1 |
1-196715101-A-C |
c.3465A>C |
p.G1155= |
Synonymous |
21/22 |
- |
2 |
1-196715101-A-G |
c.3465A>G |
p.G1155= |
Synonymous |
21/22 |
- |
3 |
1-196715101-A-T |
c.3465A>T |
p.G1155= |
Synonymous |
21/22 |
- |
2 |
1-196715102-C-CA |
c.3468dup |
p.W1157Mfs*22 |
Frameshift |
21/22 |
- |
2 |
1-196715105-T-A |
c.3469T>A |
p.W1157R |
Missense |
21/22 |
- |
8 |
1-196715105-T-C |
c.3469T>C |
p.W1157R |
Missense |
21/22 |
- |
9 |
1-196715106-G-T |
c.3470G>T |
p.W1157L |
Missense |
21/22 |
- |
2 |
1-196715109-C-A |
c.3473C>A |
p.S1158* |
Nonsense |
21/22 |
- |
1 |
1-196715109-C-G |
c.3473C>G |
p.S1158* |
Nonsense |
21/22 |
- |
2 |
1-196715111-G-A |
c.3475G>A |
p.E1159K |
Missense |
21/22 |
- |
1 |
1-196715117-C-A |
c.3481C>A |
p.P1161T |
Missense |
21/22 |
- |
1 |
1-196715117-C-G |
c.3481C>G |
p.P1161A |
Missense |
21/22 |
- |
1 |
1-196715117-C-T |
c.3481C>T |
p.P1161S |
Missense |
21/22 |
- |
4 |
1-196715116-AC-A |
c.3482del |
p.P1161Qfs*8 |
Frameshift |
21/22 |
- |
1 |
1-196715118-C-A |
c.3482C>A |
p.P1161Q |
Missense |
21/22 |
- |
1 |
1-196715119-A-C |
c.3483A>C |
p.P1161= |
Synonymous |
21/22 |
- |
1 |
1-196715119-A-G |
c.3483A>G |
p.P1161= |
Synonymous |
21/22 |
- |
1 |
1-196715119-A-T |
c.3483A>T |
p.P1161= |
Synonymous |
21/22 |
- |
1 |
1-196715120-A-G |
c.3484A>G |
p.K1162E |
Missense |
21/22 |
- |
1 |
1-196715118-CA-C |
c.3486del |
p.K1162Nfs*7 |
Frameshift |
21/22 |
- |
3 |
1-196715122-A-C |
c.3486A>C |
p.K1162N |
Missense |
21/22 |
- |
1 |
1-196715122-A-G |
c.3486A>G |
p.K1162= |
Synonymous |
21/22 |
- |
1 |
1-196715122-A-T |
c.3486A>T |
p.K1162N |
Missense |
21/22 |
- |
1 |
1-196715123-T-C |
c.3487T>C |
p.C1163R |
Missense |
21/22 |
- |
1 |
1-196715123-TG-GC |
c.3487_3488delinsGC |
p.C1163A |
Missense |
21/22 |
- |
1 |
1-196715125-C-G |
c.3489C>G |
p.C1163W |
Missense |
21/22 |
- |
6 |
1-196715127-TA-AT |
c.3491_3492delinsAT |
p.L1164Y |
Missense |
21/22 |
- |
1 |
1-196715129-C-T |
c.3493C>T |
p.H1165Y |
Missense |
21/22 |
- |
4 |
1-196715130-G-A |
c.3493+1G>A |
- |
IntronicSNV |
- |
21/21 |
1 |
1-196715134-G-A |
c.3493+5G>A |
- |
IntronicSNV |
- |
21/21 |
1 |
1-196715439-G-A |
c.3493+310G>A |
- |
IntronicSNV |
- |
21/21 |
1 |
1-196715666-G-A |
c.3493+537G>A |
- |
IntronicSNV |
- |
21/21 |
1 |
1-196715666-G-C |
c.3493+537G>C |
- |
IntronicSNV |
- |
21/21 |
1 |
1-196715666-G-T |
c.3493+537G>T |
- |
IntronicSNV |
- |
21/21 |
1 |
1-196715667-A-T |
c.3493+538A>T |
- |
IntronicSNV |
- |
21/21 |
2 |
1-196716243-C-A |
c.3496C>A |
p.P1166T |
Missense |
22/22 |
- |
2 |
1-196716244-C-A |
c.3497C>A |
p.P1166Q |
Missense |
22/22 |
- |
1 |
1-196716244-C-T |
c.3497C>T |
p.P1166L |
Missense |
22/22 |
- |
3 |
1-196716245-G-A |
c.3498G>A |
p.P1166= |
Synonymous |
22/22 |
- |
1 |
1-196716248-T-A |
c.3501T>A |
p.C1167* |
Nonsense |
22/22 |
- |
1 |
1-196716249-G-A |
c.3502G>A |
p.V1168I |
Missense |
22/22 |
- |
1 |
1-196716250-T-A |
c.3503T>A |
p.V1168E |
Missense |
22/22 |
- |
1 |
1-196716250-T-C |
c.3503T>C |
p.V1168A |
Missense |
22/22 |
- |
1 |
1-196716252-A-C |
c.3505A>C |
p.I1169L |
Missense |
22/22 |
- |
3 |
1-196716252-A-T |
c.3505A>T |
p.I1169L |
Missense |
22/22 |
- |
3 |
1-196716253-T-C |
c.3506T>C |
p.I1169T |
Missense |
22/22 |
- |
1 |
1-196716254-A-C |
c.3507A>C |
p.I1169= |
Synonymous |
22/22 |
- |
2 |
1-196716254-A-T |
c.3507A>T |
p.I1169= |
Synonymous |
22/22 |
- |
2 |
1-196716257-C-T |
c.3510C>T |
p.S1170= |
Synonymous |
22/22 |
- |
4 |
1-196716258-C-T |
c.3511C>T |
p.R1171* |
Nonsense |
22/22 |
- |
2 |
1-196716259-G-A |
c.3512G>A |
p.R1171Q |
Missense |
22/22 |
- |
1 |
1-196716261-G-A |
c.3514G>A |
p.E1172K |
Missense |
22/22 |
- |
2 |
1-196716261-G-T |
c.3514G>T |
p.E1172* |
Nonsense |
22/22 |
- |
17 |
1-196716270-G-A |
c.3523G>A |
p.E1175K |
Missense |
22/22 |
- |
9 |
1-196716272-A-C |
c.3525A>C |
p.E1175D |
Missense |
22/22 |
- |
2 |
1-196716277-A-G |
c.3530A>G |
p.Y1177C |
Missense |
22/22 |
- |
5 |
1-196716280-A-T |
c.3533A>T |
p.N1178I |
Missense |
22/22 |
- |
1 |
1-196716281-C-A |
c.3534C>A |
p.N1178K |
Missense |
22/22 |
- |
1 |
1-196716283-T-C |
c.3536T>C |
p.I1179T |
Missense |
22/22 |
- |
1 |
1-196716285-G-A |
c.3538G>A |
p.A1180T |
Missense |
22/22 |
- |
2 |
1-196716288-T-C |
c.3541T>C |
p.L1181= |
Synonymous |
22/22 |
- |
1 |
1-196716290-A-G |
c.3543A>G |
p.L1181= |
Synonymous |
22/22 |
- |
1 |
1-196716289-T-C |
c.3542T>C |
p.L1181S |
Missense |
22/22 |
- |
1 |
1-196716291-AG-GC |
c.3544_3545delinsGC |
p.R1182A |
Missense |
22/22 |
- |
4 |
1-196716292-G-A |
c.3545G>A |
p.R1182K |
Missense |
22/22 |
- |
1 |
1-196716292-G-T |
c.3545G>T |
p.R1182M |
Missense |
22/22 |
- |
1 |
1-196716293-G-C |
c.3546G>C |
p.R1182S |
Missense |
22/22 |
- |
9 |
1-196716293-G-T |
c.3546G>T |
p.R1182S |
Missense |
22/22 |
- |
9 |
1-196716294-T-A |
c.3547T>A |
p.W1183R |
Missense |
22/22 |
- |
13 |
1-196716294-T-C |
c.3547T>C |
p.W1183R |
Missense |
22/22 |
- |
10 |
1-196716294-TG-GC |
c.3547_3548delinsGC |
p.W1183A |
Missense |
22/22 |
- |
1 |
1-196716295-G-A |
c.3548G>A |
p.W1183* |
Nonsense |
22/22 |
- |
1 |
1-196716295-G-T |
c.3548G>T |
p.W1183L |
Missense |
22/22 |
- |
19 |
1-196716296-G-A |
c.3549G>A |
p.W1183* |
Nonsense |
22/22 |
- |
6 |
1-196716296-G-C |
c.3549G>C |
p.W1183C |
Missense |
22/22 |
- |
3 |
1-196716296-G-T |
c.3549G>T |
p.W1183C |
Missense |
22/22 |
- |
4 |
1-196716297-A-C |
c.3550A>C |
p.T1184P |
Missense |
22/22 |
- |
1 |
1-196716297-A-G |
c.3550A>G |
p.T1184A |
Missense |
22/22 |
- |
1 |
1-196716298-C-G |
c.3551C>G |
p.T1184R |
Missense |
22/22 |
- |
11 |
1-196716298-C-T |
c.3551C>T |
p.T1184I |
Missense |
22/22 |
- |
2 |
1-196716300-G-C |
c.3553G>C |
p.A1185P |
Missense |
22/22 |
- |
1 |
1-196716301-C-A |
c.3554C>A |
p.A1185D |
Missense |
22/22 |
- |
3 |
1-196716301-C-G |
c.3554C>G |
p.A1185G |
Missense |
22/22 |
- |
2 |
1-196716303-AA-GC |
c.3556_3557delinsGC |
p.K1186A |
Missense |
22/22 |
- |
4 |
1-196716304-A-C |
c.3557A>C |
p.K1186T |
Missense |
22/22 |
- |
3 |
1-196716308-G-C |
c.3561G>C |
p.Q1187H |
Missense |
22/22 |
- |
1 |
1-196716308-G-T |
c.3561G>T |
p.Q1187H |
Missense |
22/22 |
- |
1 |
1-196716309-AA-GC |
c.3562_3563delinsGC |
p.K1188A |
Missense |
22/22 |
- |
4 |
1-196716309-A-G |
c.3562A>G |
p.K1188E |
Missense |
22/22 |
- |
1 |
1-196716312-C-T |
c.3565C>T |
p.L1189F |
Missense |
22/22 |
- |
4 |
1-196716313-T-A |
c.3566T>A |
p.L1189H |
Missense |
22/22 |
- |
2 |
1-196716313-T-C |
c.3566T>C |
p.L1189P |
Missense |
22/22 |
- |
1 |
1-196716313-T-G |
c.3566T>G |
p.L1189R |
Missense |
22/22 |
- |
10 |
1-196716315-T-C |
c.3568T>C |
p.Y1190H |
Missense |
22/22 |
- |
2 |
1-196716319-C-A |
c.3572C>A |
p.S1191* |
Nonsense |
22/22 |
- |
1 |
1-196716319-C-G |
c.3572C>G |
p.S1191W |
Missense |
22/22 |
- |
9 |
1-196716319-CG-GT |
c.3572_3573delinsGT |
p.S1191C |
Missense |
22/22 |
- |
1 |
1-196716319-C-T |
c.3572C>T |
p.S1191L |
Missense |
22/22 |
- |
65 |
1-196716320-G-A |
c.3573G>A |
p.S1191= |
Synonymous |
22/22 |
- |
3 |
1-196716321-AGA-TGT |
c.3574_3576delinsTGT |
p.R1192C |
Missense |
22/22 |
- |
1 |
1-196716322-G-T |
c.3575G>T |
p.R1192I |
Missense |
22/22 |
- |
2 |
1-196716325-C-G |
c.3578C>G |
p.T1193R |
Missense |
22/22 |
- |
1 |
1-196716326-A-T |
c.3579A>T |
p.T1193= |
Synonymous |
22/22 |
- |
1 |
1-196716327-G-A |
c.3580G>A |
p.G1194S |
Missense |
22/22 |
- |
6 |
1-196716328-G-A |
c.3581G>A |
p.G1194D |
Missense |
22/22 |
- |
11 |
1-196716330-G-A |
c.3583G>A |
p.E1195K |
Missense |
22/22 |
- |
1 |
1-196716330-G-T |
c.3583G>T |
p.E1195* |
Nonsense |
22/22 |
- |
2 |
1-196716337-T-C |
c.3590T>C |
p.V1197A |
Missense |
22/22 |
- |
41 |
1-196716339-G-A |
c.3592G>A |
p.E1198K |
Missense |
22/22 |
- |
8 |
1-196716339-G-T |
c.3592G>T |
p.E1198* |
Nonsense |
22/22 |
- |
3 |
1-196716340-A-C |
c.3593A>C |
p.E1198A |
Missense |
22/22 |
- |
7 |
1-196716340-A-G |
c.3593A>G |
p.E1198G |
Missense |
22/22 |
- |
1 |
1-196716340-A-T |
c.3593A>T |
p.E1198V |
Missense |
22/22 |
- |
4 |
1-196716341-A-T |
c.3594A>T |
p.E1198D |
Missense |
22/22 |
- |
1 |
1-196716342-T-C |
c.3595T>C |
p.F1199L |
Missense |
22/22 |
- |
2 |
1-196716343-T-C |
c.3596T>C |
p.F1199S |
Missense |
22/22 |
- |
4 |
1-196716345-G-T |
c.3598G>T |
p.V1200L |
Missense |
22/22 |
- |
2 |
1-196716352-A-T |
c.3605A>T |
p.K1202I |
Missense |
22/22 |
- |
3 |
1-196716354-CG-GA |
c.3607_3608delinsGA |
p.R1203E |
Missense |
22/22 |
- |
2 |
1-196716354-CG-GC |
c.3607_3608delinsGC |
p.R1203A |
Missense |
22/22 |
- |
1 |
1-196716354-C-T |
c.3607C>T |
p.R1203W |
Missense |
22/22 |
- |
8 |
1-196716355-G-A |
c.3608G>A |
p.R1203Q |
Missense |
22/22 |
- |
1 |
1-196716355-G-C |
c.3608G>C |
p.R1203P |
Missense |
22/22 |
- |
3 |
1-196716355-G-T |
c.3608G>T |
p.R1203L |
Missense |
22/22 |
- |
1 |
1-196716356-G-A |
c.3609G>A |
p.R1203= |
Synonymous |
22/22 |
- |
1 |
1-196716356-G-C |
c.3609G>C |
p.R1203= |
Synonymous |
22/22 |
- |
1 |
1-196716357-G-A |
c.3610G>A |
p.G1204R |
Missense |
22/22 |
- |
4 |
1-196716358-G-A |
c.3611G>A |
p.G1204E |
Missense |
22/22 |
- |
1 |
1-196716360-T-C |
c.3613T>C |
p.Y1205H |
Missense |
22/22 |
- |
3 |
1-196716362-T-A |
c.3615T>A |
p.Y1205* |
Nonsense |
22/22 |
- |
1 |
1-196716363-CG-GC |
c.3616_3617delinsGC |
p.R1206A |
Missense |
22/22 |
- |
3 |
1-196716363-CGT-GAG |
c.3616_3618delinsGAG |
p.R1206E |
Missense |
22/22 |
- |
1 |
1-196716363-CGT-TGA |
c.3616_3618delinsTGA |
p.R1206* |
Nonsense |
22/22 |
- |
1 |
1-196716363-C-T |
c.3616C>T |
p.R1206C |
Missense |
22/22 |
- |
13 |
1-196716364-G-A |
c.3617G>A |
p.R1206H |
Missense |
22/22 |
- |
2 |
1-196716365-T-A |
c.3618T>A |
p.R1206= |
Synonymous |
22/22 |
- |
1 |
1-196716365-T-C |
c.3618T>C |
p.R1206= |
Synonymous |
22/22 |
- |
1 |
1-196716365-T-G |
c.3618T>G |
p.R1206= |
Synonymous |
22/22 |
- |
1 |
1-196716366-C-A |
c.3619C>A |
p.L1207I |
Missense |
22/22 |
- |
1 |
1-196716367-T-A |
c.3620T>A |
p.L1207H |
Missense |
22/22 |
- |
1 |
1-196716374-A-C |
c.3627A>C |
p.S1209= |
Synonymous |
22/22 |
- |
1 |
1-196716374-A-G |
c.3627A>G |
p.S1209= |
Synonymous |
22/22 |
- |
1 |
1-196716374-A-T |
c.3627A>T |
p.S1209= |
Synonymous |
22/22 |
- |
1 |
1-196716375-C-A |
c.3628C>A |
p.R1210S |
Missense |
22/22 |
- |
2 |
1-196716375-CG-GC |
c.3628_3629delinsGC |
p.R1210A |
Missense |
22/22 |
- |
3 |
1-196716375-CG-GT |
c.3628_3629delinsGT |
p.R1210V |
Missense |
22/22 |
- |
2 |
1-196716375-C-T |
c.3628C>T |
p.R1210C |
Missense |
22/22 |
- |
150 |
1-196716376-G-A |
c.3629G>A |
p.R1210H |
Missense |
22/22 |
- |
3 |
1-196716376-G-T |
c.3629G>T |
p.R1210L |
Missense |
22/22 |
- |
1 |
1-196716376-GT-AA |
c.3629_3630delinsAA |
p.R1210Q |
Missense |
22/22 |
- |
1 |
1-196716381-C-A |
c.3634C>A |
p.H1212N |
Missense |
22/22 |
- |
1 |
1-196716381-C-T |
c.3634C>T |
p.H1212Y |
Missense |
22/22 |
- |
1 |
1-196716387-T-A |
c.3640T>A |
p.L1214M |
Missense |
22/22 |
- |
1 |
1-196716389-G-A |
c.3642G>A |
p.L1214= |
Synonymous |
22/22 |
- |
1 |
1-196716390-C-G |
c.3643C>G |
p.R1215G |
Missense |
22/22 |
- |
23 |
1-196716390-CGA-TGT |
c.3643_3645delinsTGT |
p.R1215C |
Missense |
22/22 |
- |
1 |
1-196716390-C-T |
c.3643C>T |
p.R1215* |
Nonsense |
22/22 |
- |
7 |
1-196716391-G-A |
c.3644G>A |
p.R1215Q |
Missense |
22/22 |
- |
38 |
1-196716391-G-T |
c.3644G>T |
p.R1215L |
Missense |
22/22 |
- |
3 |
1-196716391-GAAC-G |
c.3649_3651del |
p.T1217del |
InFrameDeletion |
22/22 |
- |
1 |
1-196716399-T-C |
c.3652T>C |
p.C1218R |
Missense |
22/22 |
- |
4 |
1-196716399-T-G |
c.3652T>G |
p.C1218G |
Missense |
22/22 |
- |
2 |
1-196716400-G-A |
c.3653G>A |
p.C1218Y |
Missense |
22/22 |
- |
1 |
1-196716400-G-T |
c.3653G>T |
p.C1218F |
Missense |
22/22 |
- |
1 |
1-196716401-T-C |
c.3654T>C |
p.C1218= |
Synonymous |
22/22 |
- |
2 |
1-196716404-G-C |
c.3657G>C |
p.W1219C |
Missense |
22/22 |
- |
3 |
1-196716404-G-T |
c.3657G>T |
p.W1219C |
Missense |
22/22 |
- |
3 |
1-196716410-G-A |
c.3663G>A |
p.G1221= |
Synonymous |
22/22 |
- |
5 |
1-196716413-A-G |
c.3666A>G |
p.K1222= |
Synonymous |
22/22 |
- |
1 |
1-196716415-T-A |
c.3668T>A |
p.L1223Q |
Missense |
22/22 |
- |
1 |
1-196716415-TG-GT |
c.3668_3669delinsGT |
p.L1223R |
Missense |
22/22 |
- |
1 |
1-196716417-G-A |
c.3670G>A |
p.E1224K |
Missense |
22/22 |
- |
1 |
1-196716417-G-T |
c.3670G>T |
p.E1224* |
Nonsense |
22/22 |
- |
1 |
1-196716421-A-T |
c.3674A>T |
p.Y1225F |
Missense |
22/22 |
- |
1 |
1-196716423-C-T |
c.3676C>T |
p.P1226S |
Missense |
22/22 |
- |
7 |
1-196716424-C-T |
c.3677C>T |
p.P1226L |
Missense |
22/22 |
- |
1 |
1-196716427-C-A |
c.3680C>A |
p.T1227N |
Missense |
22/22 |
- |
1 |
1-196716436-AA-GC |
c.3689_3690delinsGC |
p.K1230S |
Missense |
22/22 |
- |
1 |
1-196716433-CA-C |
c.3691del |
p.R1231Dfs*40 |
Frameshift |
22/22 |
- |
1 |
1-196716438-A-T |
c.3691A>T |
p.R1231* |
Nonsense |
22/22 |
- |
1 |
1-196716472-C-G |
c.*29C>G |
- |
3-UTRSNV |
22/22 |
- |
1 |
1-196716472-C-T |
c.*29C>T |
- |
3-UTRSNV |
22/22 |
- |
1 |
1-196716498-C-A |
c.*55C>A |
- |
3-UTRSNV |
22/22 |
- |
1 |
1-196716498-C-T |
c.*55C>T |
- |
3-UTRSNV |
22/22 |
- |
1 |
1-196716621-T-A |
c.*178T>A |
- |
3-UTRSNV |
22/22 |
- |
1 |