4-95376440-A-G |
c.1A>G |
p.M1? |
Missense |
2/13 |
- |
1 |
4-95376443-AG-CC |
c.4_5delinsCC |
p.S2P |
Missense |
2/13 |
- |
2 |
4-95376443-AGC-TGA |
c.4_6delinsTGA |
p.S2* |
Nonsense |
2/13 |
- |
1 |
4-95376447-A-G |
c.8A>G |
p.N3S |
Missense |
2/13 |
- |
1 |
4-95376448-C-T |
c.9C>T |
p.N3= |
Synonymous |
2/13 |
- |
4 |
4-95376450-A-G |
c.11A>G |
p.Y4C |
Missense |
2/13 |
- |
3 |
4-95376451-C-T |
c.12C>T |
p.Y4= |
Synonymous |
2/13 |
- |
1 |
4-95376452-A-T |
c.13A>T |
p.S5C |
Missense |
2/13 |
- |
1 |
4-95376453-G-A |
c.14G>A |
p.S5N |
Missense |
2/13 |
- |
2 |
4-95376458-TC-AT |
c.19_20delinsAT |
p.S7I |
Missense |
2/13 |
- |
1 |
4-95376458-TC-GG |
c.19_20delinsGG |
p.S7G |
Missense |
2/13 |
- |
1 |
4-95376459-CA-GT |
c.20_21delinsGT |
p.S7C |
Missense |
2/13 |
- |
1 |
4-95376459-C-T |
c.20C>T |
p.S7L |
Missense |
2/13 |
- |
1 |
4-95376461-C-T |
c.22C>T |
p.L8= |
Synonymous |
2/13 |
- |
1 |
4-95376461-CTG-TTT |
c.22_24delinsTTT |
p.L8F |
Missense |
2/13 |
- |
1 |
4-95376464-G-A |
c.25G>A |
p.V9I |
Missense |
2/13 |
- |
1 |
4-95376465-T-C |
c.26T>C |
p.V9A |
Missense |
2/13 |
- |
1 |
4-95376465-TTGGCCCAGC-T |
c.28_36del |
p.G10_A12del |
InFrameDeletion |
2/13 |
- |
1 |
4-95376467-G-C |
c.28G>C |
p.G10R |
Missense |
2/13 |
- |
1 |
4-95376469-C-A |
c.30C>A |
p.G10= |
Synonymous |
2/13 |
- |
1 |
4-95376469-C-G |
c.30C>G |
p.G10= |
Synonymous |
2/13 |
- |
1 |
4-95376469-C-T |
c.30C>T |
p.G10= |
Synonymous |
2/13 |
- |
2 |
4-95376470-C-A |
c.31C>A |
p.P11T |
Missense |
2/13 |
- |
1 |
4-95376470-C-G |
c.31C>G |
p.P11A |
Missense |
2/13 |
- |
2 |
4-95376470-C-T |
c.31C>T |
p.P11S |
Missense |
2/13 |
- |
1 |
4-95376471-C-T |
c.32C>T |
p.P11L |
Missense |
2/13 |
- |
1 |
4-95376473-G-A |
c.34G>A |
p.A12T |
Missense |
2/13 |
- |
7 |
4-95376473-G-C |
c.34G>C |
p.A12P |
Missense |
2/13 |
- |
2 |
4-95376473-GC-CA |
c.34_35delinsCA |
p.A12H |
Missense |
2/13 |
- |
1 |
4-95376473-GC-CT |
c.34_35delinsCT |
p.A12L |
Missense |
2/13 |
- |
2 |
4-95376473-GCT-CAA |
c.34_36delinsCAA |
p.A12Q |
Missense |
2/13 |
- |
2 |
4-95376473-GC-TT |
c.34_35delinsTT |
p.A12F |
Missense |
2/13 |
- |
4 |
4-95376473-GCT-TAA |
c.34_36delinsTAA |
p.A12* |
Nonsense |
2/13 |
- |
1 |
4-95376473-GCT-TGG |
c.34_36delinsTGG |
p.A12W |
Missense |
2/13 |
- |
3 |
4-95376474-C-A |
c.35C>A |
p.A12D |
Missense |
2/13 |
- |
3 |
4-95376474-C-G |
c.35C>G |
p.A12G |
Missense |
2/13 |
- |
2 |
4-95376474-C-T |
c.35C>T |
p.A12V |
Missense |
2/13 |
- |
3 |
4-95376474-CT-AG |
c.35_36inv |
p.A12E |
Missense |
2/13 |
- |
3 |
4-95376473-GCTC-G |
c.37_39del |
p.P13del |
InFrameDeletion |
2/13 |
- |
1 |
4-95376476-CCT-AAG |
c.37_39delinsAAG |
p.P13K |
Missense |
2/13 |
- |
9 |
4-95376476-CCT-GAG |
c.37_39delinsGAG |
p.P13E |
Missense |
2/13 |
- |
1 |
4-95376476-C-G |
c.37C>G |
p.P13A |
Missense |
2/13 |
- |
1 |
4-95376476-C-T |
c.37C>T |
p.P13S |
Missense |
2/13 |
- |
1 |
4-95376477-C-T |
c.38C>T |
p.P13L |
Missense |
2/13 |
- |
1 |
4-95376478-T-A |
c.39T>A |
p.P13= |
Synonymous |
2/13 |
- |
1 |
4-95376478-T-C |
c.39T>C |
p.P13= |
Synonymous |
2/13 |
- |
1 |
4-95376478-T-G |
c.39T>G |
p.P13= |
Synonymous |
2/13 |
- |
1 |
4-95376479-T-A |
c.40T>A |
p.W14R |
Missense |
2/13 |
- |
1 |
4-95376479-T-C |
c.40T>C |
p.W14R |
Missense |
2/13 |
- |
1 |
4-95376482-G-C |
c.43G>C |
p.G15R |
Missense |
2/13 |
- |
1 |
4-95376483-G-C |
c.44G>C |
p.G15A |
Missense |
2/13 |
- |
2 |
4-95376483-G-T |
c.44G>T |
p.G15V |
Missense |
2/13 |
- |
2 |
4-95376485-T-C |
c.46T>C |
p.F16L |
Missense |
2/13 |
- |
1 |
4-95376485-TT-CC |
c.46_47delinsCC |
p.F16P |
Missense |
2/13 |
- |
1 |
4-95376485-TT-GC |
c.46_47delinsGC |
p.F16A |
Missense |
2/13 |
- |
1 |
4-95376486-T-C |
c.47T>C |
p.F16S |
Missense |
2/13 |
- |
1 |
4-95376487-C-T |
c.48C>T |
p.F16= |
Synonymous |
2/13 |
- |
1 |
4-95376488-CG-AC |
c.49_50delinsAC |
p.R17T |
Missense |
2/13 |
- |
1 |
4-95376488-CGG-TGT |
c.49_51delinsTGT |
p.R17C |
Missense |
2/13 |
- |
1 |
4-95376488-C-T |
c.49C>T |
p.R17W |
Missense |
2/13 |
- |
1 |
4-95376489-G-A |
c.50G>A |
p.R17Q |
Missense |
2/13 |
- |
2 |
4-95376489-G-C |
c.50G>C |
p.R17P |
Missense |
2/13 |
- |
1 |
4-95376489-GG-AT |
c.50_51delinsAT |
p.R17H |
Missense |
2/13 |
- |
2 |
4-95376491-CT-GC |
c.52_53delinsGC |
p.L18A |
Missense |
2/13 |
- |
31 |
4-95376491-CT-TA |
c.52_53delinsTA |
p.L18* |
Nonsense |
2/13 |
- |
1 |
4-95376492-T-C |
c.53T>C |
p.L18P |
Missense |
2/13 |
- |
1 |
4-95376492-T-G |
c.53T>G |
p.L18R |
Missense |
2/13 |
- |
1 |
4-95376494-C-A |
c.55C>A |
p.Q19K |
Missense |
2/13 |
- |
1 |
4-95376495-A-G |
c.56A>G |
p.Q19R |
Missense |
2/13 |
- |
1 |
4-95376496-G-C |
c.57G>C |
p.Q19H |
Missense |
2/13 |
- |
1 |
4-95376496-G-T |
c.57G>T |
p.Q19H |
Missense |
2/13 |
- |
2 |
4-95376497-G-A |
c.58G>A |
p.G20S |
Missense |
2/13 |
- |
5 |
4-95376495-AG-A |
c.59del |
p.G20Afs*9 |
Frameshift |
2/13 |
- |
1 |
4-95376498-G-A |
c.59G>A |
p.G20D |
Missense |
2/13 |
- |
1 |
4-95376500-G-A |
c.61G>A |
p.G21S |
Missense |
2/13 |
- |
2 |
4-95376501-G-A |
c.62G>A |
p.G21D |
Missense |
2/13 |
- |
1 |
4-95376501-G-T |
c.62G>T |
p.G21V |
Missense |
2/13 |
- |
1 |
4-95376502-T-A |
c.63T>A |
p.G21= |
Synonymous |
2/13 |
- |
2 |
4-95376502-T-C |
c.63T>C |
p.G21= |
Synonymous |
2/13 |
- |
2 |
4-95376502-T-G |
c.63T>G |
p.G21= |
Synonymous |
2/13 |
- |
2 |
4-95376503-A-G |
c.64A>G |
p.K22E |
Missense |
2/13 |
- |
3 |
4-95376504-A-G |
c.65A>G |
p.K22R |
Missense |
2/13 |
- |
14 |
4-95376505-G-T |
c.66G>T |
p.K22N |
Missense |
2/13 |
- |
1 |
4-95376506-G-A |
c.67G>A |
p.D23N |
Missense |
2/13 |
- |
1 |
4-95376509-T-C |
c.70T>C |
p.F24L |
Missense |
2/13 |
- |
1 |
4-95376509-TT-GA |
c.70_71delinsGA |
p.F24D |
Missense |
2/13 |
- |
1 |
4-95376509-TTTC-T |
c.70_72del |
p.F24del |
InFrameDeletion |
2/13 |
- |
1 |
4-95376511-C-A |
c.72C>A |
p.F24L |
Missense |
2/13 |
- |
2 |
4-95376511-C-G |
c.72C>G |
p.F24L |
Missense |
2/13 |
- |
1 |
4-95376510-T-C |
c.71T>C |
p.F24S |
Missense |
2/13 |
- |
1 |
4-95376510-T-G |
c.71T>G |
p.F24C |
Missense |
2/13 |
- |
1 |
4-95376511-C-T |
c.72C>T |
p.F24= |
Synonymous |
2/13 |
- |
1 |
4-95376512-A-C |
c.73A>C |
p.N25H |
Missense |
2/13 |
- |
1 |
4-95376515-A-C |
c.76A>C |
p.M26L |
Missense |
2/13 |
- |
1 |
4-95376515-A-G |
c.76A>G |
p.M26V |
Missense |
2/13 |
- |
2 |
4-95376515-A-T |
c.76A>T |
p.M26L |
Missense |
2/13 |
- |
1 |
4-95376515-AT-CC |
c.76_77delinsCC |
p.M26P |
Missense |
2/13 |
- |
1 |
4-95376515-AT-GC |
c.76_77delinsGC |
p.M26A |
Missense |
2/13 |
- |
1 |
4-95376516-T-C |
c.77T>C |
p.M26T |
Missense |
2/13 |
- |
1 |
4-95376517-G-A |
c.78G>A |
p.M26I |
Missense |
2/13 |
- |
1 |
4-95376518-CCT-AAG |
c.79_81delinsAAG |
p.P27K |
Missense |
2/13 |
- |
2 |
4-95376518-C-G |
c.79C>G |
p.P27A |
Missense |
2/13 |
- |
1 |
4-95376519-C-G |
c.80C>G |
p.P27R |
Missense |
2/13 |
- |
1 |
4-95376521-C-A |
c.82C>A |
p.L28M |
Missense |
2/13 |
- |
1 |
4-95376521-CT-GA |
c.82_83delinsGA |
p.L28E |
Missense |
2/13 |
- |
2 |
4-95376523-G-A |
c.84G>A |
p.L28= |
Synonymous |
2/13 |
- |
1 |
4-95376524-A-C |
c.85A>C |
p.T29P |
Missense |
2/13 |
- |
1 |
4-95376524-ACA-TGT |
c.85_87inv |
p.T29C |
Missense |
2/13 |
- |
1 |
4-95376525-C-T |
c.86C>T |
p.T29I |
Missense |
2/13 |
- |
1 |
4-95376527-A-G |
c.88A>G |
p.I30V |
Missense |
2/13 |
- |
2 |
4-95376529-C-G |
c.90C>G |
p.I30M |
Missense |
2/13 |
- |
1 |
4-95376530-T-C |
c.91T>C |
p.S31P |
Missense |
2/13 |
- |
1 |
4-95376531-C-G |
c.92C>G |
p.S31C |
Missense |
2/13 |
- |
2 |
4-95376532-T-A |
c.93T>A |
p.S31= |
Synonymous |
2/13 |
- |
1 |
4-95376532-T-C |
c.93T>C |
p.S31= |
Synonymous |
2/13 |
- |
1 |
4-95376532-T-G |
c.93T>G |
p.S31= |
Synonymous |
2/13 |
- |
1 |
4-95376533-AG-GC |
c.94_95delinsGC |
p.S32A |
Missense |
2/13 |
- |
1 |
4-95376534-G-A |
c.95G>A |
p.S32N |
Missense |
2/13 |
- |
4 |
4-95376534-G-T |
c.95G>T |
p.S32I |
Missense |
2/13 |
- |
1 |
4-95376533-A-C |
c.94A>C |
p.S32R |
Missense |
2/13 |
- |
1 |
4-95376535-GTGTAAGTAAACTTTACAAATTTTATTATAGATGTTCATTCAGTGCTTAGTCCTCGGGCT-G |
c.96_96+58del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
2/13 |
2/12 |
1 |
4-95376535-T-A |
c.96T>A |
p.S32R |
Missense |
2/13 |
- |
1 |
4-95376535-T-G |
c.96T>G |
p.S32R |
Missense |
2/13 |
- |
1 |
4-95376588-C-T |
c.96+53C>T |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95377085-T-C |
c.96+550T>C |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95377442-C-T |
c.96+907C>T |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95377631-G-A |
c.96+1096G>A |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95379071-C-G |
c.96+2536C>G |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95379107-T-C |
c.96+2572T>C |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95379175-C-T |
c.96+2640C>T |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95379741-A-G |
c.96+3206A>G |
- |
IntronicSNV |
- |
2/12 |
3 |
4-95382238-C-T |
c.96+5703C>T |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95386261-T-C |
c.96+9726T>C |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95387107-CT-C |
c.96+10582del |
- |
IntronicDeletion |
- |
2/12 |
1 |
4-95390936-AT-A |
c.96+14409del |
- |
IntronicDeletion |
- |
2/12 |
1 |
4-95395388-C-T |
c.96+18853C>T |
- |
IntronicSNV |
- |
2/12 |
2 |
4-95402441-CTTT-C |
c.96+25922_96+25924del |
- |
IntronicDeletion |
- |
2/12 |
1 |
4-95411219-T-G |
c.97-33656T>G |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95411302-G-A |
c.97-33573G>A |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95414563-A-G |
c.97-30312A>G |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95414563-A-T |
c.97-30312A>T |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95415446-G-T |
c.97-29429G>T |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95416599-G-A |
c.97-28276G>A |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95416599-G-T |
c.97-28276G>T |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95416601-T-A |
c.97-28274T>A |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95416602-G-A |
c.97-28273G>A |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95417665-C-G |
c.97-27210C>G |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95417665-C-T |
c.97-27210C>T |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95419878-T-A |
c.97-24997T>A |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95419878-T-C |
c.97-24997T>C |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95420010-C-G |
c.97-24865C>G |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95420010-C-T |
c.97-24865C>T |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95420163-G-A |
c.97-24712G>A |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95438714-C-T |
c.97-6161C>T |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95439154-C-A |
c.97-5721C>A |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95439154-C-T |
c.97-5721C>T |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95439956-A-C |
c.97-4919A>C |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95444654-T-G |
c.97-221T>G |
- |
IntronicSNV |
- |
2/12 |
1 |
4-95444875-C-A |
c.97C>A |
p.L33I |
Missense |
3/13 |
- |
1 |
4-95444875-C-G |
c.97C>G |
p.L33V |
Missense |
3/13 |
- |
1 |
4-95444876-TA-AT |
c.98_99delinsAT |
p.L33H |
Missense |
3/13 |
- |
1 |
4-95444876-T-C |
c.98T>C |
p.L33P |
Missense |
3/13 |
- |
1 |
4-95444876-T-G |
c.98T>G |
p.L33R |
Missense |
3/13 |
- |
2 |
4-95444875-C-T |
c.97C>T |
p.L33= |
Synonymous |
3/13 |
- |
1 |
4-95444877-A-C |
c.99A>C |
p.L33= |
Synonymous |
3/13 |
- |
1 |
4-95444877-A-G |
c.99A>G |
p.L33= |
Synonymous |
3/13 |
- |
1 |
4-95444877-A-T |
c.99A>T |
p.L33= |
Synonymous |
3/13 |
- |
1 |
4-95444880-A-C |
c.102A>C |
p.K34N |
Missense |
3/13 |
- |
2 |
4-95444880-A-T |
c.102A>T |
p.K34N |
Missense |
3/13 |
- |
3 |
4-95444881-G-C |
c.103G>C |
p.D35H |
Missense |
3/13 |
- |
1 |
4-95444881-G-T |
c.103G>T |
p.D35Y |
Missense |
3/13 |
- |
1 |
4-95444882-A-G |
c.104A>G |
p.D35G |
Missense |
3/13 |
- |
1 |
4-95444883-T-A |
c.105T>A |
p.D35E |
Missense |
3/13 |
- |
1 |
4-95444883-T-G |
c.105T>G |
p.D35E |
Missense |
3/13 |
- |
1 |
4-95444884-G-C |
c.106G>C |
p.G36R |
Missense |
3/13 |
- |
2 |
4-95444885-G-A |
c.107G>A |
p.G36D |
Missense |
3/13 |
- |
1 |
4-95444885-GC-AG |
c.107_108delinsAG |
p.G36E |
Missense |
3/13 |
- |
1 |
4-95444886-C-A |
c.108C>A |
p.G36= |
Synonymous |
3/13 |
- |
2 |
4-95444886-C-G |
c.108C>G |
p.G36= |
Synonymous |
3/13 |
- |
1 |
4-95444886-C-T |
c.108C>T |
p.G36= |
Synonymous |
3/13 |
- |
4 |
4-95444887-G-A |
c.109G>A |
p.G37S |
Missense |
3/13 |
- |
1 |
4-95444887-G-C |
c.109G>C |
p.G37R |
Missense |
3/13 |
- |
6 |
4-95444888-G-A |
c.110G>A |
p.G37D |
Missense |
3/13 |
- |
1 |
4-95444888-GC-AG |
c.110_111delinsAG |
p.G37E |
Missense |
3/13 |
- |
1 |
4-95444888-G-T |
c.110G>T |
p.G37V |
Missense |
3/13 |
- |
2 |
4-95444890-AA-GC |
c.112_113delinsGC |
p.K38A |
Missense |
3/13 |
- |
1 |
4-95444891-A-C |
c.113A>C |
p.K38T |
Missense |
3/13 |
- |
1 |
4-95444891-A-G |
c.113A>G |
p.K38R |
Missense |
3/13 |
- |
2 |
4-95444893-G-A |
c.115G>A |
p.A39T |
Missense |
3/13 |
- |
2 |
4-95444893-GCA-ATG |
c.115_117delinsATG |
p.A39M |
Missense |
3/13 |
- |
1 |
4-95444893-GC-AT |
c.115_116delinsAT |
p.A39I |
Missense |
3/13 |
- |
1 |
4-95444893-GCA-TGT |
c.115_117delinsTGT |
p.A39C |
Missense |
3/13 |
- |
2 |
4-95444894-CA-AC |
c.116_117delinsAC |
p.A39D |
Missense |
3/13 |
- |
1 |
4-95444896-G-A |
c.118G>A |
p.A40T |
Missense |
3/13 |
- |
1 |
4-95444896-GC-AA |
c.118_119delinsAA |
p.A40N |
Missense |
3/13 |
- |
1 |
4-95444896-GCC-TAA |
c.118_120delinsTAA |
p.A40* |
Nonsense |
3/13 |
- |
1 |
4-95444896-GCC-TGG |
c.118_120delinsTGG |
p.A40W |
Missense |
3/13 |
- |
1 |
4-95444896-GC-TG |
c.118_119delinsTG |
p.A40C |
Missense |
3/13 |
- |
1 |
4-95444897-CC-AG |
c.119_120delinsAG |
p.A40E |
Missense |
3/13 |
- |
1 |
4-95444897-C-G |
c.119C>G |
p.A40G |
Missense |
3/13 |
- |
3 |
4-95444897-C-T |
c.119C>T |
p.A40V |
Missense |
3/13 |
- |
2 |
4-95444898-C-A |
c.120C>A |
p.A40= |
Synonymous |
3/13 |
- |
1 |
4-95444898-C-G |
c.120C>G |
p.A40= |
Synonymous |
3/13 |
- |
1 |
4-95444898-C-T |
c.120C>T |
p.A40= |
Synonymous |
3/13 |
- |
1 |
4-95444902-G-A |
c.124G>A |
p.A42T |
Missense |
3/13 |
- |
3 |
4-95444902-GCA-ATG |
c.124_126delinsATG |
p.A42M |
Missense |
3/13 |
- |
1 |
4-95444902-GCA-TAT |
c.124_126delinsTAT |
p.A42Y |
Missense |
3/13 |
- |
2 |
4-95444902-G-T |
c.124G>T |
p.A42S |
Missense |
3/13 |
- |
2 |
4-95444903-C-A |
c.125C>A |
p.A42E |
Missense |
3/13 |
- |
1 |
4-95444903-C-T |
c.125C>T |
p.A42V |
Missense |
3/13 |
- |
1 |
4-95444908-G-A |
c.130G>A |
p.V44I |
Missense |
3/13 |
- |
1 |
4-95444908-G-C |
c.130G>C |
p.V44L |
Missense |
3/13 |
- |
1 |
4-95444908-G-T |
c.130G>T |
p.V44L |
Missense |
3/13 |
- |
1 |
4-95444908-GTA-ATG |
c.130_132delinsATG |
p.V44M |
Missense |
3/13 |
- |
1 |
4-95444912-G-A |
c.134G>A |
p.R45K |
Missense |
3/13 |
- |
1 |
4-95444914-A-G |
c.136A>G |
p.I46V |
Missense |
3/13 |
- |
2 |
4-95444916-A-G |
c.138A>G |
p.I46M |
Missense |
3/13 |
- |
1 |
4-95444917-G-T |
c.139G>T |
p.G47C |
Missense |
3/13 |
- |
1 |
4-95444918-G-A |
c.140G>A |
p.G47D |
Missense |
3/13 |
- |
2 |
4-95444918-GC-AG |
c.140_141delinsAG |
p.G47E |
Missense |
3/13 |
- |
1 |
4-95444919-C-T |
c.141C>T |
p.G47= |
Synonymous |
3/13 |
- |
2 |
4-95444920-G-A |
c.142G>A |
p.D48N |
Missense |
3/13 |
- |
5 |
4-95444920-G-T |
c.142G>T |
p.D48Y |
Missense |
3/13 |
- |
7 |
4-95444921-A-T |
c.143A>T |
p.D48V |
Missense |
3/13 |
- |
1 |
4-95444921-GATGTGGTT-G |
c.143_150del |
p.D48Afs*4 |
Frameshift |
3/13 |
- |
1 |
4-95444923-G-A |
c.145G>A |
p.V49M |
Missense |
3/13 |
- |
2 |
4-95444924-T-G |
c.146T>G |
p.V49G |
Missense |
3/13 |
- |
1 |
4-95444926-G-A |
c.148G>A |
p.V50I |
Missense |
3/13 |
- |
1 |
4-95444929-C-G |
c.151C>G |
p.L51V |
Missense |
3/13 |
- |
2 |
4-95444929-CT-AG |
c.151_152inv |
p.L51S |
Missense |
3/13 |
- |
1 |
4-95444930-TC-AA |
c.152_153delinsAA |
p.L51Q |
Missense |
3/13 |
- |
1 |
4-95444931-C-A |
c.153C>A |
p.L51= |
Synonymous |
3/13 |
- |
1 |
4-95444931-C-G |
c.153C>G |
p.L51= |
Synonymous |
3/13 |
- |
1 |
4-95444931-C-T |
c.153C>T |
p.L51= |
Synonymous |
3/13 |
- |
1 |
4-95444932-AGC-TGA |
c.154_156delinsTGA |
p.S52* |
Nonsense |
3/13 |
- |
1 |
4-95444932-AG-TT |
c.154_155delinsTT |
p.S52F |
Missense |
3/13 |
- |
1 |
4-95444933-G-A |
c.155G>A |
p.S52N |
Missense |
3/13 |
- |
2 |
4-95444933-G-C |
c.155G>C |
p.S52T |
Missense |
3/13 |
- |
1 |
4-95444933-G-GC |
c.156dup |
p.I53Hfs*2 |
Frameshift |
3/13 |
- |
1 |
4-95444935-A-C |
c.157A>C |
p.I53L |
Missense |
3/13 |
- |
1 |
4-95444938-G-A |
c.160G>A |
p.D54N |
Missense |
3/13 |
- |
1 |
4-95444938-G-C |
c.160G>C |
p.D54H |
Missense |
3/13 |
- |
4 |
4-95444938-G-GAGAGGATGGC |
c.161_162insGAGGATGGCA |
p.D54Efs*15 |
Frameshift |
3/13 |
- |
1 |
4-95444940-ATGGAATAAATGCACAAGGAATGACTC-A |
c.162_187del |
p.D54Efs*3 |
Frameshift |
3/13 |
- |
1 |
4-95444940-T-G |
c.162T>G |
p.D54E |
Missense |
3/13 |
- |
2 |
4-95444941-G-A |
c.163G>A |
p.G55R |
Missense |
3/13 |
- |
1 |
4-95444941-G-C |
c.163G>C |
p.G55R |
Missense |
3/13 |
- |
1 |
4-95444941-GGA-TGT |
c.163_165delinsTGT |
p.G55C |
Missense |
3/13 |
- |
1 |
4-95444941-G-T |
c.163G>T |
p.G55* |
Nonsense |
3/13 |
- |
1 |
4-95444942-G-A |
c.164G>A |
p.G55E |
Missense |
3/13 |
- |
1 |
4-95444944-A-G |
c.166A>G |
p.I56V |
Missense |
3/13 |
- |
3 |
4-95444944-AT-GC |
c.166_167delinsGC |
p.I56A |
Missense |
3/13 |
- |
1 |
4-95444945-TA-AC |
c.167_168delinsAC |
p.I56N |
Missense |
3/13 |
- |
1 |
4-95444946-A-C |
c.168A>C |
p.I56= |
Synonymous |
3/13 |
- |
1 |
4-95444946-A-T |
c.168A>T |
p.I56= |
Synonymous |
3/13 |
- |
1 |
4-95444947-A-C |
c.169A>C |
p.N57H |
Missense |
3/13 |
- |
1 |
4-95444950-G-A |
c.172G>A |
p.A58T |
Missense |
3/13 |
- |
6 |
4-95444950-G-C |
c.172G>C |
p.A58P |
Missense |
3/13 |
- |
1 |
4-95444951-C-A |
c.173C>A |
p.A58E |
Missense |
3/13 |
- |
1 |
4-95444953-C-T |
c.175C>T |
p.Q59* |
Nonsense |
3/13 |
- |
1 |
4-95444956-G-A |
c.178G>A |
p.G60R |
Missense |
3/13 |
- |
2 |
4-95444956-G-C |
c.178G>C |
p.G60R |
Missense |
3/13 |
- |
2 |
4-95444957-G-A |
c.179G>A |
p.G60E |
Missense |
3/13 |
- |
2 |
4-95444957-GA-AC |
c.179_180delinsAC |
p.G60D |
Missense |
3/13 |
- |
1 |
4-95444957-G-C |
c.179G>C |
p.G60A |
Missense |
3/13 |
- |
2 |
4-95444960-T-G |
c.182T>G |
p.M61R |
Missense |
3/13 |
- |
1 |
4-95444962-A-G |
c.184A>G |
p.T62A |
Missense |
3/13 |
- |
1 |
4-95444962-A-T |
c.184A>T |
p.T62S |
Missense |
3/13 |
- |
2 |
4-95444963-C-A |
c.185C>A |
p.T62N |
Missense |
3/13 |
- |
1 |
4-95444963-C-G |
c.185C>G |
p.T62S |
Missense |
3/13 |
- |
2 |
4-95444963-C-T |
c.185C>T |
p.T62I |
Missense |
3/13 |
- |
1 |
4-95444965-CA-GC |
c.187_188delinsGC |
p.H63A |
Missense |
3/13 |
- |
2 |
4-95444966-A-G |
c.188A>G |
p.H63R |
Missense |
3/13 |
- |
2 |
4-95444967-T-C |
c.189T>C |
p.H63= |
Synonymous |
3/13 |
- |
2 |
4-95444967-T-TGG |
c.189_190insGG |
p.L64Gfs*15 |
Frameshift |
3/13 |
- |
1 |
4-95444968-C-A |
c.190C>A |
p.L64I |
Missense |
3/13 |
- |
3 |
4-95444968-C-T |
c.190C>T |
p.L64F |
Missense |
3/13 |
- |
1 |
4-95444968-CT-GC |
c.190_191delinsGC |
p.L64A |
Missense |
3/13 |
- |
2 |
4-95444969-T-C |
c.191T>C |
p.L64P |
Missense |
3/13 |
- |
1 |
4-95444971-G-C |
c.193G>C |
p.E65Q |
Missense |
3/13 |
- |
1 |
4-95444972-A-C |
c.194A>C |
p.E65A |
Missense |
3/13 |
- |
2 |
4-95444974-G-A |
c.196G>A |
p.A66T |
Missense |
3/13 |
- |
2 |
4-95444974-GC-TG |
c.196_197delinsTG |
p.A66C |
Missense |
3/13 |
- |
2 |
4-95444975-CC-AG |
c.197_198delinsAG |
p.A66E |
Missense |
3/13 |
- |
1 |
4-95444977-CAG-TAT |
c.199_201delinsTAT |
p.Q67Y |
Missense |
3/13 |
- |
1 |
4-95444977-C-G |
c.199C>G |
p.Q67E |
Missense |
3/13 |
- |
1 |
4-95444978-A-C |
c.200A>C |
p.Q67P |
Missense |
3/13 |
- |
3 |
4-95444978-A-T |
c.200A>T |
p.Q67L |
Missense |
3/13 |
- |
11 |
4-95444982-T-C |
c.204T>C |
p.N68= |
Synonymous |
3/13 |
- |
1 |
4-95444983-AA-CT |
c.205_206delinsCT |
p.K69L |
Missense |
3/13 |
- |
1 |
4-95444983-AA-GC |
c.205_206delinsGC |
p.K69A |
Missense |
3/13 |
- |
1 |
4-95444984-A-G |
c.206A>G |
p.K69R |
Missense |
3/13 |
- |
6 |
4-95444985-G-T |
c.207G>T |
p.K69N |
Missense |
3/13 |
- |
1 |
4-95444989-A-C |
c.211A>C |
p.K71Q |
Missense |
3/13 |
- |
1 |
4-95444989-A-G |
c.211A>G |
p.K71E |
Missense |
3/13 |
- |
1 |
4-95444991-G-C |
c.213G>C |
p.K71N |
Missense |
3/13 |
- |
1 |
4-95444991-G-T |
c.213G>T |
p.K71N |
Missense |
3/13 |
- |
1 |
4-95444992-G-A |
c.214G>A |
p.G72S |
Missense |
3/13 |
- |
1 |
4-95444992-G-C |
c.214G>C |
p.G72R |
Missense |
3/13 |
- |
4 |
4-95444993-G-C |
c.215G>C |
p.G72A |
Missense |
3/13 |
- |
1 |
4-95444995-T-A |
c.217T>A |
p.C73S |
Missense |
3/13 |
- |
1 |
4-95444995-T-C |
c.217T>C |
p.C73R |
Missense |
3/13 |
- |
1 |
4-95444995-TG-AC |
c.217_218delinsAC |
p.C73T |
Missense |
3/13 |
- |
1 |
4-95444995-TG-GC |
c.217_218delinsGC |
p.C73A |
Missense |
3/13 |
- |
3 |
4-95444996-G-C |
c.218G>C |
p.C73S |
Missense |
3/13 |
- |
1 |
4-95444996-G-A |
c.218G>A |
p.C73Y |
Missense |
3/13 |
- |
4 |
4-95444997-T-C |
c.219T>C |
p.C73= |
Synonymous |
3/13 |
- |
1 |
4-95444998-ACA-GAC |
c.220_222delinsGAC |
p.T74D |
Missense |
3/13 |
- |
1 |
4-95444998-A-G |
c.220A>G |
p.T74A |
Missense |
3/13 |
- |
5 |
4-95444999-C-T |
c.221C>T |
p.T74I |
Missense |
3/13 |
- |
1 |
4-95445000-CA-C |
c.222del |
p.G75Afs*3 |
Frameshift |
3/13 |
- |
1 |
4-95445002-G-A |
c.224G>A |
p.G75D |
Missense |
3/13 |
- |
1 |
4-95445002-GC-AG |
c.224_225delinsAG |
p.G75E |
Missense |
3/13 |
- |
1 |
4-95445002-G-GC |
c.225dup |
p.S76Lfs*16 |
Frameshift |
3/13 |
- |
1 |
4-95445004-T-C |
c.226T>C |
p.S76P |
Missense |
3/13 |
- |
1 |
4-95445004-TC-CT |
c.226_227delinsCT |
p.S76L |
Missense |
3/13 |
- |
1 |
4-95445004-TC-GA |
c.226_227inv |
p.S76D |
Missense |
3/13 |
- |
1 |
4-95445007-TT-GC |
c.229_230delinsGC |
p.L77A |
Missense |
3/13 |
- |
1 |
4-95445009-G-C |
c.231G>C |
p.L77F |
Missense |
3/13 |
- |
1 |
4-95445008-T-TGAGGATGGCA |
c.232_233insGGATGGCAGA |
p.N78Rfs*17 |
Frameshift |
3/13 |
- |
1 |
4-95445010-A-C |
c.232A>C |
p.N78H |
Missense |
3/13 |
- |
1 |
4-95445010-A-G |
c.232A>G |
p.N78D |
Missense |
3/13 |
- |
1 |
4-95445015-G-A |
c.237G>A |
p.M79I |
Missense |
3/13 |
- |
1 |
4-95445015-G-C |
c.237G>C |
p.M79I |
Missense |
3/13 |
- |
1 |
4-95445015-G-T |
c.237G>T |
p.M79I |
Missense |
3/13 |
- |
1 |
4-95445016-AC-TG |
c.238_239delinsTG |
p.T80C |
Missense |
3/13 |
- |
1 |
4-95445016-A-G |
c.238A>G |
p.T80A |
Missense |
3/13 |
- |
3 |
4-95445016-A-T |
c.238A>T |
p.T80S |
Missense |
3/13 |
- |
2 |
4-95445017-C-A |
c.239C>A |
p.T80N |
Missense |
3/13 |
- |
1 |
4-95445017-C-G |
c.239C>G |
p.T80S |
Missense |
3/13 |
- |
2 |
4-95445017-C-T |
c.239C>T |
p.T80I |
Missense |
3/13 |
- |
1 |
4-95445019-C-G |
c.241C>G |
p.L81V |
Missense |
3/13 |
- |
3 |
4-95445019-C-T |
c.241C>T |
p.L81= |
Synonymous |
3/13 |
- |
1 |
4-95445019-CT-TG |
c.241_242delinsTG |
p.L81W |
Missense |
3/13 |
- |
1 |
4-95445020-T-G |
c.242T>G |
p.L81R |
Missense |
3/13 |
- |
1 |
4-95445021-G-GA |
c.243_244insA |
p.Q82Tfs*10 |
Frameshift |
3/13 |
- |
1 |
4-95445022-C-A |
c.244C>A |
p.Q82K |
Missense |
3/13 |
- |
2 |
4-95445022-C-T |
c.244C>T |
p.Q82* |
Nonsense |
3/13 |
- |
3 |
4-95445023-A-C |
c.245A>C |
p.Q82P |
Missense |
3/13 |
- |
1 |
4-95445025-AG-CT |
c.247_248inv |
p.R83L |
Missense |
3/13 |
- |
2 |
4-95445025-A-T |
c.247A>T |
p.R83* |
Nonsense |
3/13 |
- |
1 |
4-95445026-G-A |
c.248G>A |
p.R83K |
Missense |
3/13 |
- |
1 |
4-95445051-G-A |
c.248+25G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95445189-A-T |
c.248+163A>T |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95445191-T-C |
c.248+165T>C |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95445363-TA-T |
c.248+344del |
- |
IntronicDeletion |
- |
3/12 |
1 |
4-95446578-CA-C |
c.248+1559del |
- |
IntronicDeletion |
- |
3/12 |
1 |
4-95449657-GT-G |
c.248+4640del |
- |
IntronicDeletion |
- |
3/12 |
1 |
4-95452228-A-G |
c.248+7202A>G |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95452228-A-T |
c.248+7202A>T |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95453777-T-G |
c.248+8751T>G |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95460579-A-G |
c.248+15553A>G |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95460578-GA-G |
c.248+15560del |
- |
IntronicDeletion |
- |
3/12 |
1 |
4-95461516-G-A |
c.248+16490G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95461516-G-T |
c.248+16490G>T |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95465535-CT-C |
c.248+20515del |
- |
IntronicDeletion |
- |
3/12 |
1 |
4-95465985-C-T |
c.248+20959C>T |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95468433-G-A |
c.248+23407G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95474562-A-G |
c.249-19940A>G |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95477006-G-A |
c.249-17496G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95477006-G-T |
c.249-17496G>T |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95477192-G-A |
c.249-17310G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95478603-G-A |
c.249-15899G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95478603-G-T |
c.249-15899G>T |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95479064-G-A |
c.249-15438G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95479372-G-A |
c.249-15130G>A |
- |
IntronicSNV |
- |
3/12 |
3 |
4-95479372-G-C |
c.249-15130G>C |
- |
IntronicSNV |
- |
3/12 |
3 |
4-95479372-G-T |
c.249-15130G>T |
- |
IntronicSNV |
- |
3/12 |
3 |
4-95482211-G-T |
c.249-12291G>T |
- |
IntronicSNV |
- |
3/12 |
2 |
4-95482375-T-C |
c.249-12127T>C |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95482820-C-T |
c.249-11682C>T |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95484190-A-G |
c.249-10312A>G |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95484640-C-A |
c.249-9862C>A |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95486094-G-A |
c.249-8408G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95486990-G-A |
c.249-7512G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95487082-A-G |
c.249-7420A>G |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95488396-G-C |
c.249-6106G>C |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95488396-G-T |
c.249-6106G>T |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95489082-A-G |
c.249-5420A>G |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95490483-C-T |
c.249-4019C>T |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95493072-A-T |
c.249-1430A>T |
- |
IntronicSNV |
- |
3/12 |
1 |
4-95445025-A-C |
c.247A>C |
p.R83= |
Synonymous |
3/13 |
- |
1 |
4-95494502-A-G |
c.249A>G |
p.R83= |
Synonymous |
4/13 |
- |
1 |
4-95494504-CA-AC |
c.251_252delinsAC |
p.A84D |
Missense |
4/13 |
- |
1 |
4-95494504-C-G |
c.251C>G |
p.A84G |
Missense |
4/13 |
- |
1 |
4-95494504-C-T |
c.251C>T |
p.A84V |
Missense |
4/13 |
- |
1 |
4-95494505-A-C |
c.252A>C |
p.A84= |
Synonymous |
4/13 |
- |
1 |
4-95494505-A-G |
c.252A>G |
p.A84= |
Synonymous |
4/13 |
- |
1 |
4-95494505-A-T |
c.252A>T |
p.A84= |
Synonymous |
4/13 |
- |
1 |
4-95494505-CA-C |
c.252del |
p.S85Lfs*19 |
Frameshift |
4/13 |
- |
1 |
4-95494506-T-C |
c.253T>C |
p.S85P |
Missense |
4/13 |
- |
1 |
4-95494506-TC-GG |
c.253_254delinsGG |
p.S85G |
Missense |
4/13 |
- |
1 |
4-95494506-T-G |
c.253T>G |
p.S85A |
Missense |
4/13 |
- |
2 |
4-95494508-T-C |
c.255T>C |
p.S85= |
Synonymous |
4/13 |
- |
1 |
4-95494509-G-A |
c.256G>A |
p.A86T |
Missense |
4/13 |
- |
1 |
4-95494509-GCT-ATG |
c.256_258delinsATG |
p.A86M |
Missense |
4/13 |
- |
1 |
4-95494510-C-T |
c.257C>T |
p.A86V |
Missense |
4/13 |
- |
1 |
4-95494511-T-C |
c.258T>C |
p.A86= |
Synonymous |
4/13 |
- |
1 |
4-95494512-G-A |
c.259G>A |
p.A87T |
Missense |
4/13 |
- |
3 |
4-95494512-GC-AA |
c.259_260delinsAA |
p.A87K |
Missense |
4/13 |
- |
1 |
4-95494512-GCA-TTT |
c.259_261delinsTTT |
p.A87F |
Missense |
4/13 |
- |
2 |
4-95494512-G-T |
c.259G>T |
p.A87S |
Missense |
4/13 |
- |
1 |
4-95494513-CA-AC |
c.260_261delinsAC |
p.A87D |
Missense |
4/13 |
- |
1 |
4-95494514-A-C |
c.261A>C |
p.A87= |
Synonymous |
4/13 |
- |
1 |
4-95494514-A-G |
c.261A>G |
p.A87= |
Synonymous |
4/13 |
- |
1 |
4-95494514-A-T |
c.261A>T |
p.A87= |
Synonymous |
4/13 |
- |
1 |
4-95494515-C-T |
c.262C>T |
p.P88S |
Missense |
4/13 |
- |
3 |
4-95494517-C-A |
c.264C>A |
p.P88= |
Synonymous |
4/13 |
- |
1 |
4-95494517-C-G |
c.264C>G |
p.P88= |
Synonymous |
4/13 |
- |
1 |
4-95494517-C-T |
c.264C>T |
p.P88= |
Synonymous |
4/13 |
- |
1 |
4-95494518-A-G |
c.265A>G |
p.K89E |
Missense |
4/13 |
- |
1 |
4-95494519-A-G |
c.266A>G |
p.K89R |
Missense |
4/13 |
- |
3 |
4-95494521-C-T |
c.268C>T |
p.P90S |
Missense |
4/13 |
- |
2 |
4-95494521-GCCT-G |
c.268_270del |
p.P90del |
InFrameDeletion |
4/13 |
- |
1 |
4-95494522-C-T |
c.269C>T |
p.P90L |
Missense |
4/13 |
- |
3 |
4-95494523-T-A |
c.270T>A |
p.P90= |
Synonymous |
4/13 |
- |
1 |
4-95494523-T-C |
c.270T>C |
p.P90= |
Synonymous |
4/13 |
- |
1 |
4-95494523-T-G |
c.270T>G |
p.P90= |
Synonymous |
4/13 |
- |
1 |
4-95494524-G-A |
c.271G>A |
p.E91K |
Missense |
4/13 |
- |
1 |
4-95494526-G-C |
c.273G>C |
p.E91D |
Missense |
4/13 |
- |
1 |
4-95494526-G-T |
c.273G>T |
p.E91D |
Missense |
4/13 |
- |
1 |
4-95494527-C-T |
c.274C>T |
p.P92S |
Missense |
4/13 |
- |
1 |
4-95494528-C-A |
c.275C>A |
p.P92Q |
Missense |
4/13 |
- |
1 |
4-95494528-C-T |
c.275C>T |
p.P92L |
Missense |
4/13 |
- |
5 |
4-95494530-G-T |
c.277G>T |
p.V93F |
Missense |
4/13 |
- |
1 |
4-95494530-GTT-ATG |
c.277_279delinsATG |
p.V93M |
Missense |
4/13 |
- |
1 |
4-95494532-T-A |
c.279T>A |
p.V93= |
Synonymous |
4/13 |
- |
1 |
4-95494532-T-C |
c.279T>C |
p.V93= |
Synonymous |
4/13 |
- |
1 |
4-95494532-T-G |
c.279T>G |
p.V93= |
Synonymous |
4/13 |
- |
1 |
4-95494534-C-A |
c.281C>A |
p.P94H |
Missense |
4/13 |
- |
1 |
4-95494534-C-T |
c.281C>T |
p.P94L |
Missense |
4/13 |
- |
1 |
4-95494536-G-A |
c.283G>A |
p.V95I |
Missense |
4/13 |
- |
2 |
4-95494536-GTT-ATG |
c.283_285delinsATG |
p.V95M |
Missense |
4/13 |
- |
2 |
4-95494537-T-C |
c.284T>C |
p.V95A |
Missense |
4/13 |
- |
1 |
4-95494537-T-G |
c.284T>G |
p.V95G |
Missense |
4/13 |
- |
1 |
4-95494539-CAA-ATG |
c.286_288delinsATG |
p.Q96M |
Missense |
4/13 |
- |
2 |
4-95494539-CAA-GAC |
c.286_288delinsGAC |
p.Q96D |
Missense |
4/13 |
- |
1 |
4-95494539-CAA-TTT |
c.286_288delinsTTT |
p.Q96F |
Missense |
4/13 |
- |
1 |
4-95494539-C-T |
c.286C>T |
p.Q96* |
Nonsense |
4/13 |
- |
5 |
4-95494539-TCAA-T |
c.286_288del |
p.Q96del |
InFrameDeletion |
4/13 |
- |
1 |
4-95494540-A-G |
c.287A>G |
p.Q96R |
Missense |
4/13 |
- |
1 |
4-95494540-A-T |
c.287A>T |
p.Q96L |
Missense |
4/13 |
- |
1 |
4-95494541-A-AT |
c.288_289insT |
p.K97* |
Nonsense |
4/13 |
- |
1 |
4-95494542-A-G |
c.289A>G |
p.K97E |
Missense |
4/13 |
- |
1 |
4-95494543-A-G |
c.290A>G |
p.K97R |
Missense |
4/13 |
- |
2 |
4-95494544-G-A |
c.291G>A |
p.K97= |
Synonymous |
4/13 |
- |
1 |
4-95494544-G-T |
c.291G>T |
p.K97N |
Missense |
4/13 |
- |
1 |
4-95495908-A-G |
c.292-859A>G |
- |
IntronicSNV |
- |
4/12 |
1 |
4-95496767-G-A |
c.292G>A |
p.G98R |
Missense |
5/13 |
- |
1 |
4-95496767-GGA-AGC |
c.292_294delinsAGC |
p.G98S |
Missense |
5/13 |
- |
1 |
4-95496768-G-C |
c.293G>C |
p.G98A |
Missense |
5/13 |
- |
2 |
4-95496768-G-T |
c.293G>T |
p.G98V |
Missense |
5/13 |
- |
1 |
4-95496770-G-A |
c.295G>A |
p.E99K |
Missense |
5/13 |
- |
6 |
4-95496770-G-C |
c.295G>C |
p.E99Q |
Missense |
5/13 |
- |
1 |
4-95496770-G-T |
c.295G>T |
p.E99* |
Nonsense |
5/13 |
- |
1 |
4-95496772-A-C |
c.297A>C |
p.E99D |
Missense |
5/13 |
- |
1 |
4-95496772-A-T |
c.297A>T |
p.E99D |
Missense |
5/13 |
- |
1 |
4-95496773-CC-GT |
c.298_299delinsGT |
p.P100V |
Missense |
5/13 |
- |
1 |
4-95496773-C-T |
c.298C>T |
p.P100S |
Missense |
5/13 |
- |
2 |
4-95496778-A-T |
c.303A>T |
p.K101N |
Missense |
5/13 |
- |
1 |
4-95496779-G-A |
c.304G>A |
p.E102K |
Missense |
5/13 |
- |
2 |
4-95496779-G-C |
c.304G>C |
p.E102Q |
Missense |
5/13 |
- |
1 |
4-95496780-A-C |
c.305A>C |
p.E102A |
Missense |
5/13 |
- |
1 |
4-95496780-A-G |
c.305A>G |
p.E102G |
Missense |
5/13 |
- |
1 |
4-95496779-GA-G |
c.306del |
p.V103* |
Frameshift |
5/13 |
- |
1 |
4-95496781-A-C |
c.306A>C |
p.E102D |
Missense |
5/13 |
- |
1 |
4-95496781-A-T |
c.306A>T |
p.E102D |
Missense |
5/13 |
- |
1 |
4-95496782-G-A |
c.307G>A |
p.V103I |
Missense |
5/13 |
- |
1 |
4-95496782-G-C |
c.307G>C |
p.V103L |
Missense |
5/13 |
- |
2 |
4-95496782-G-T |
c.307G>T |
p.V103L |
Missense |
5/13 |
- |
2 |
4-95496782-GTA-TTT |
c.307_309delinsTTT |
p.V103F |
Missense |
5/13 |
- |
1 |
4-95496784-A-C |
c.309A>C |
p.V103= |
Synonymous |
5/13 |
- |
1 |
4-95496784-A-G |
c.309A>G |
p.V103= |
Synonymous |
5/13 |
- |
1 |
4-95496784-A-T |
c.309A>T |
p.V103= |
Synonymous |
5/13 |
- |
1 |
4-95496787-T-A |
c.312T>A |
p.V104= |
Synonymous |
5/13 |
- |
1 |
4-95496787-T-C |
c.312T>C |
p.V104= |
Synonymous |
5/13 |
- |
1 |
4-95496787-T-G |
c.312T>G |
p.V104= |
Synonymous |
5/13 |
- |
1 |
4-95496788-AA-GC |
c.313_314delinsGC |
p.K105A |
Missense |
5/13 |
- |
3 |
4-95496789-AA-TG |
c.314_315delinsTG |
p.K105M |
Missense |
5/13 |
- |
1 |
4-95496787-T-TA |
c.315dup |
p.P106Tfs*22 |
Frameshift |
5/13 |
- |
1 |
4-95496790-A-G |
c.315A>G |
p.K105= |
Synonymous |
5/13 |
- |
1 |
4-95496791-C-G |
c.316C>G |
p.P106A |
Missense |
5/13 |
- |
1 |
4-95496791-C-T |
c.316C>T |
p.P106S |
Missense |
5/13 |
- |
1 |
4-95496793-T-C |
c.318T>C |
p.P106= |
Synonymous |
5/13 |
- |
1 |
4-95496794-G-A |
c.319G>A |
p.V107M |
Missense |
5/13 |
- |
1 |
4-95496794-G-C |
c.319G>C |
p.V107L |
Missense |
5/13 |
- |
1 |
4-95496794-G-T |
c.319G>T |
p.V107L |
Missense |
5/13 |
- |
1 |
4-95496795-T-G |
c.320T>G |
p.V107G |
Missense |
5/13 |
- |
2 |
4-95496798-C-T |
c.323C>T |
p.P108L |
Missense |
5/13 |
- |
1 |
4-95496799-C-A |
c.324C>A |
p.P108= |
Synonymous |
5/13 |
- |
2 |
4-95496799-C-G |
c.324C>G |
p.P108= |
Synonymous |
5/13 |
- |
2 |
4-95496799-C-T |
c.324C>T |
p.P108= |
Synonymous |
5/13 |
- |
2 |
4-95496800-A-G |
c.325A>G |
p.I109V |
Missense |
5/13 |
- |
2 |
4-95496803-A-T |
c.328A>T |
p.T110S |
Missense |
5/13 |
- |
1 |
4-95496804-C-A |
c.329C>A |
p.T110K |
Missense |
5/13 |
- |
1 |
4-95496804-CA-AC |
c.329_330delinsAC |
p.T110N |
Missense |
5/13 |
- |
1 |
4-95496806-TC-CG |
c.331_332delinsCG |
p.S111R |
Missense |
5/13 |
- |
1 |
4-95496806-TC-CT |
c.331_332delinsCT |
p.S111L |
Missense |
5/13 |
- |
1 |
4-95496806-T-G |
c.331T>G |
p.S111A |
Missense |
5/13 |
- |
1 |
4-95496808-T-A |
c.333T>A |
p.S111= |
Synonymous |
5/13 |
- |
1 |
4-95496808-T-C |
c.333T>C |
p.S111= |
Synonymous |
5/13 |
- |
3 |
4-95496808-T-G |
c.333T>G |
p.S111= |
Synonymous |
5/13 |
- |
2 |
4-95496809-C-A |
c.334C>A |
p.P112T |
Missense |
5/13 |
- |
1 |
4-95496810-C-T |
c.335C>T |
p.P112L |
Missense |
5/13 |
- |
1 |
4-95496813-C-G |
c.338C>G |
p.A113G |
Missense |
5/13 |
- |
1 |
4-95496815-GTG-ATC |
c.340_342delinsATC |
p.V114I |
Missense |
5/13 |
- |
1 |
4-95496816-T-C |
c.341T>C |
p.V114A |
Missense |
5/13 |
- |
1 |
4-95496818-T-A |
c.343T>A |
p.S115T |
Missense |
5/13 |
- |
2 |
4-95496818-T-C |
c.343T>C |
p.S115P |
Missense |
5/13 |
- |
2 |
4-95496819-CC-AA |
c.344_345delinsAA |
p.S115* |
Nonsense |
5/13 |
- |
1 |
4-95496819-C-T |
c.344C>T |
p.S115F |
Missense |
5/13 |
- |
2 |
4-95496820-C-A |
c.345C>A |
p.S115= |
Synonymous |
5/13 |
- |
1 |
4-95496820-C-G |
c.345C>G |
p.S115= |
Synonymous |
5/13 |
- |
1 |
4-95496820-C-T |
c.345C>T |
p.S115= |
Synonymous |
5/13 |
- |
1 |
4-95496821-AA-GC |
c.346_347delinsGC |
p.K116A |
Missense |
5/13 |
- |
3 |
4-95496823-A-C |
c.348A>C |
p.K116N |
Missense |
5/13 |
- |
2 |
4-95496823-A-T |
c.348A>T |
p.K116N |
Missense |
5/13 |
- |
2 |
4-95496824-G-C |
c.349G>C |
p.V117L |
Missense |
5/13 |
- |
1 |
4-95496827-A-G |
c.352A>G |
p.T118A |
Missense |
5/13 |
- |
1 |
4-95496829-T-A |
c.354T>A |
p.T118= |
Synonymous |
5/13 |
- |
1 |
4-95496829-T-C |
c.354T>C |
p.T118= |
Synonymous |
5/13 |
- |
1 |
4-95496829-T-G |
c.354T>G |
p.T118= |
Synonymous |
5/13 |
- |
1 |
4-95496830-T-A |
c.355T>A |
p.S119T |
Missense |
5/13 |
- |
1 |
4-95496830-TCC-ATG |
c.355_357delinsATG |
p.S119M |
Missense |
5/13 |
- |
1 |
4-95496830-TC-CT |
c.355_356delinsCT |
p.S119L |
Missense |
5/13 |
- |
1 |
4-95496830-TC-GA |
c.355_356inv |
p.S119D |
Missense |
5/13 |
- |
1 |
4-95496830-T-G |
c.355T>G |
p.S119A |
Missense |
5/13 |
- |
2 |
4-95496831-C-T |
c.356C>T |
p.S119F |
Missense |
5/13 |
- |
1 |
4-95496832-C-T |
c.357C>T |
p.S119= |
Synonymous |
5/13 |
- |
1 |
4-95496836-AA-GG |
c.361_362delinsGG |
p.N121G |
Missense |
5/13 |
- |
1 |
4-95496836-A-C |
c.361A>C |
p.N121H |
Missense |
5/13 |
- |
1 |
4-95496836-A-G |
c.361A>G |
p.N121D |
Missense |
5/13 |
- |
2 |
4-95496837-A-T |
c.362A>T |
p.N121I |
Missense |
5/13 |
- |
1 |
4-95496842-A-G |
c.367A>G |
p.M123V |
Missense |
5/13 |
- |
1 |
4-95496844-G-A |
c.369G>A |
p.M123I |
Missense |
5/13 |
- |
1 |
4-95496845-G-A |
c.370G>A |
p.A124T |
Missense |
5/13 |
- |
3 |
4-95496845-G-GT |
c.370_371insT |
p.A124Vfs*4 |
Frameshift |
5/13 |
- |
1 |
4-95496846-C-A |
c.371C>A |
p.A124D |
Missense |
5/13 |
- |
1 |
4-95496846-C-T |
c.371C>T |
p.A124V |
Missense |
5/13 |
- |
1 |
4-95496847-C-A |
c.372C>A |
p.A124= |
Synonymous |
5/13 |
- |
1 |
4-95496848-T-C |
c.373T>C |
p.Y125H |
Missense |
5/13 |
- |
1 |
4-95496848-T-G |
c.373T>G |
p.Y125D |
Missense |
5/13 |
- |
1 |
4-95496849-A-T |
c.374A>T |
p.Y125F |
Missense |
5/13 |
- |
1 |
4-95496851-A-G |
c.376A>G |
p.N126D |
Missense |
5/13 |
- |
1 |
4-95496853-T-A |
c.378T>A |
p.N126K |
Missense |
5/13 |
- |
1 |
4-95496853-T-G |
c.378T>G |
p.N126K |
Missense |
5/13 |
- |
1 |
4-95496855-A-G |
c.380A>G |
p.K127R |
Missense |
5/13 |
- |
1 |
4-95496856-G-A |
c.381G>A |
p.K127= |
Synonymous |
5/13 |
- |
2 |
4-95496857-G-A |
c.382G>A |
p.A128T |
Missense |
5/13 |
- |
3 |
4-95496857-G-C |
c.382G>C |
p.A128P |
Missense |
5/13 |
- |
1 |
4-95496858-C-A |
c.383C>A |
p.A128E |
Missense |
5/13 |
- |
1 |
4-95496858-C-T |
c.383C>T |
p.A128V |
Missense |
5/13 |
- |
2 |
4-95496861-C-T |
c.386C>T |
p.P129L |
Missense |
5/13 |
- |
1 |
4-95496863-CGG-ATC |
c.388_390delinsATC |
p.R130I |
Missense |
5/13 |
- |
1 |
4-95496863-CGG-TGT |
c.388_390delinsTGT |
p.R130C |
Missense |
5/13 |
- |
3 |
4-95496863-CG-TA |
c.388_389delinsTA |
p.R130* |
Nonsense |
5/13 |
- |
1 |
4-95496864-G-A |
c.389G>A |
p.R130Q |
Missense |
5/13 |
- |
6 |
4-95496864-G-C |
c.389G>C |
p.R130P |
Missense |
5/13 |
- |
1 |
4-95496865-G-T |
c.390G>T |
p.R130= |
Synonymous |
5/13 |
- |
1 |
4-95496866-C-A |
c.391C>A |
p.P131T |
Missense |
5/13 |
- |
1 |
4-95496866-CCT-ATG |
c.391_393delinsATG |
p.P131M |
Missense |
5/13 |
- |
1 |
4-95496866-C-G |
c.391C>G |
p.P131A |
Missense |
5/13 |
- |
2 |
4-95496866-C-T |
c.391C>T |
p.P131S |
Missense |
5/13 |
- |
2 |
4-95496867-C-A |
c.392C>A |
p.P131H |
Missense |
5/13 |
- |
1 |
4-95496867-C-T |
c.392C>T |
p.P131L |
Missense |
5/13 |
- |
1 |
4-95496872-G-A |
c.397G>A |
p.G133S |
Missense |
5/13 |
- |
4 |
4-95496873-G-A |
c.398G>A |
p.G133D |
Missense |
5/13 |
- |
2 |
4-95496873-G-C |
c.398G>C |
p.G133A |
Missense |
5/13 |
- |
1 |
4-95496874-T-A |
c.399T>A |
p.G133= |
Synonymous |
5/13 |
- |
1 |
4-95496874-T-C |
c.399T>C |
p.G133= |
Synonymous |
5/13 |
- |
2 |
4-95496874-T-G |
c.399T>G |
p.G133= |
Synonymous |
5/13 |
- |
1 |
4-95496873-G-GT |
c.400dup |
p.S134Ffs*49 |
Frameshift |
5/13 |
- |
1 |
4-95496876-C-T |
c.401C>T |
p.S134F |
Missense |
5/13 |
- |
4 |
4-95496878-G-A |
c.403G>A |
p.V135M |
Missense |
5/13 |
- |
1 |
4-95496878-GTG-ATC |
c.403_405delinsATC |
p.V135I |
Missense |
5/13 |
- |
2 |
4-95496879-T-A |
c.404T>A |
p.V135E |
Missense |
5/13 |
- |
1 |
4-95496880-G-A |
c.405G>A |
p.V135= |
Synonymous |
5/13 |
- |
1 |
4-95496880-G-C |
c.405G>C |
p.V135= |
Synonymous |
5/13 |
- |
1 |
4-95496881-T-A |
c.406T>A |
p.S136T |
Missense |
5/13 |
- |
1 |
4-95496881-T-C |
c.406T>C |
p.S136P |
Missense |
5/13 |
- |
1 |
4-95496881-TC-AA |
c.406_407delinsAA |
p.S136N |
Missense |
5/13 |
- |
2 |
4-95496882-C-T |
c.407C>T |
p.S136F |
Missense |
5/13 |
- |
46 |
4-95496883-T-A |
c.408T>A |
p.S136= |
Synonymous |
5/13 |
- |
2 |
4-95496883-T-C |
c.408T>C |
p.S136= |
Synonymous |
5/13 |
- |
2 |
4-95496883-T-G |
c.408T>G |
p.S136= |
Synonymous |
5/13 |
- |
2 |
4-95496884-TCA-GAC |
c.409_411delinsGAC |
p.S137D |
Missense |
5/13 |
- |
4 |
4-95496884-T-G |
c.409T>G |
p.S137A |
Missense |
5/13 |
- |
3 |
4-95496885-CA-AT |
c.410_411delinsAT |
p.S137Y |
Missense |
5/13 |
- |
1 |
4-95496885-CA-TT |
c.410_411delinsTT |
p.S137F |
Missense |
5/13 |
- |
2 |
4-95496887-C-A |
c.412C>A |
p.P138T |
Missense |
5/13 |
- |
1 |
4-95496887-C-G |
c.412C>G |
p.P138A |
Missense |
5/13 |
- |
1 |
4-95496888-C-T |
c.413C>T |
p.P138L |
Missense |
5/13 |
- |
2 |
4-95496890-A-AG |
c.415_416insG |
p.K139Rfs*44 |
Frameshift |
5/13 |
- |
1 |
4-95496891-A-C |
c.416A>C |
p.K139T |
Missense |
5/13 |
- |
1 |
4-95496891-A-G |
c.416A>G |
p.K139R |
Missense |
5/13 |
- |
2 |
4-95496892-A-C |
c.417A>C |
p.K139N |
Missense |
5/13 |
- |
1 |
4-95496892-A-T |
c.417A>T |
p.K139N |
Missense |
5/13 |
- |
1 |
4-95496893-G-C |
c.418G>C |
p.V140L |
Missense |
5/13 |
- |
1 |
4-95496894-T-C |
c.419T>C |
p.V140A |
Missense |
5/13 |
- |
1 |
4-95496898-A-T |
c.423A>T |
p.T141= |
Synonymous |
5/13 |
- |
1 |
4-95496899-T-C |
c.424T>C |
p.S142P |
Missense |
5/13 |
- |
1 |
4-95496899-TC-GA |
c.424_425inv |
p.S142D |
Missense |
5/13 |
- |
2 |
4-95496899-T-G |
c.424T>G |
p.S142A |
Missense |
5/13 |
- |
1 |
4-95496900-C-G |
c.425C>G |
p.S142C |
Missense |
5/13 |
- |
1 |
4-95496900-C-T |
c.425C>T |
p.S142F |
Missense |
5/13 |
- |
1 |
4-95496901-C-T |
c.426C>T |
p.S142= |
Synonymous |
5/13 |
- |
1 |
4-95496903-T-C |
c.428T>C |
p.I143T |
Missense |
5/13 |
- |
2 |
4-95496904-C-A |
c.429C>A |
p.I143= |
Synonymous |
5/13 |
- |
1 |
4-95496904-C-T |
c.429C>T |
p.I143= |
Synonymous |
5/13 |
- |
3 |
4-95496905-C-T |
c.430C>T |
p.P144S |
Missense |
5/13 |
- |
3 |
4-95496906-C-T |
c.431C>T |
p.P144L |
Missense |
5/13 |
- |
3 |
4-95496907-A-T |
c.432A>T |
p.P144= |
Synonymous |
5/13 |
- |
1 |
4-95496908-TC-AG |
c.433_434delinsAG |
p.S145R |
Missense |
5/13 |
- |
1 |
4-95496910-A-C |
c.435A>C |
p.S145= |
Synonymous |
5/13 |
- |
1 |
4-95496910-A-G |
c.435A>G |
p.S145= |
Synonymous |
5/13 |
- |
1 |
4-95496910-A-T |
c.435A>T |
p.S145= |
Synonymous |
5/13 |
- |
1 |
4-95496911-C-G |
c.436C>G |
p.P146A |
Missense |
5/13 |
- |
1 |
4-95496911-C-T |
c.436C>T |
p.P146S |
Missense |
5/13 |
- |
1 |
4-95496912-C-G |
c.437C>G |
p.P146R |
Missense |
5/13 |
- |
1 |
4-95496912-C-T |
c.437C>T |
p.P146L |
Missense |
5/13 |
- |
2 |
4-95496913-A-C |
c.438A>C |
p.P146= |
Synonymous |
5/13 |
- |
2 |
4-95496913-A-G |
c.438A>G |
p.P146= |
Synonymous |
5/13 |
- |
2 |
4-95496913-A-T |
c.438A>T |
p.P146= |
Synonymous |
5/13 |
- |
2 |
4-95496914-T-C |
c.439T>C |
p.S147P |
Missense |
5/13 |
- |
1 |
4-95496914-TCG-GAC |
c.439_441delinsGAC |
p.S147D |
Missense |
5/13 |
- |
1 |
4-95496914-T-G |
c.439T>G |
p.S147A |
Missense |
5/13 |
- |
1 |
4-95496915-C-T |
c.440C>T |
p.S147L |
Missense |
5/13 |
- |
1 |
4-95496916-G-A |
c.441G>A |
p.S147= |
Synonymous |
5/13 |
- |
3 |
4-95496916-G-C |
c.441G>C |
p.S147= |
Synonymous |
5/13 |
- |
2 |
4-95496916-G-T |
c.441G>T |
p.S147= |
Synonymous |
5/13 |
- |
2 |
4-95496918-C-A |
c.443C>A |
p.S148Y |
Missense |
5/13 |
- |
2 |
4-95496918-C-G |
c.443C>G |
p.S148C |
Missense |
5/13 |
- |
1 |
4-95496919-T-A |
c.444T>A |
p.S148= |
Synonymous |
5/13 |
- |
2 |
4-95496919-T-C |
c.444T>C |
p.S148= |
Synonymous |
5/13 |
- |
1 |
4-95496919-T-G |
c.444T>G |
p.S148= |
Synonymous |
5/13 |
- |
1 |
4-95496921-C-T |
c.446C>T |
p.A149V |
Missense |
5/13 |
- |
1 |
4-95496922-C-A |
c.447C>A |
p.A149= |
Synonymous |
5/13 |
- |
4 |
4-95496922-C-G |
c.447C>G |
p.A149= |
Synonymous |
5/13 |
- |
4 |
4-95496922-C-T |
c.447C>T |
p.A149= |
Synonymous |
5/13 |
- |
4 |
4-95496923-T-C |
c.448T>C |
p.F150L |
Missense |
5/13 |
- |
1 |
4-95496925-C-A |
c.450C>A |
p.F150L |
Missense |
5/13 |
- |
1 |
4-95496925-C-G |
c.450C>G |
p.F150L |
Missense |
5/13 |
- |
1 |
4-95496926-A-C |
c.451A>C |
p.T151P |
Missense |
5/13 |
- |
1 |
4-95496926-A-T |
c.451A>T |
p.T151S |
Missense |
5/13 |
- |
2 |
4-95496927-C-G |
c.452C>G |
p.T151S |
Missense |
5/13 |
- |
1 |
4-95496927-C-T |
c.452C>T |
p.T151I |
Missense |
5/13 |
- |
2 |
4-95496929-C-T |
c.454C>T |
p.P152S |
Missense |
5/13 |
- |
1 |
4-95496930-C-G |
c.455C>G |
p.P152R |
Missense |
5/13 |
- |
1 |
4-95496930-C-T |
c.455C>T |
p.P152L |
Missense |
5/13 |
- |
1 |
4-95496931-A-C |
c.456A>C |
p.P152= |
Synonymous |
5/13 |
- |
3 |
4-95496931-A-G |
c.456A>G |
p.P152= |
Synonymous |
5/13 |
- |
3 |
4-95496931-A-T |
c.456A>T |
p.P152= |
Synonymous |
5/13 |
- |
3 |
4-95496932-G-A |
c.457G>A |
p.A153T |
Missense |
5/13 |
- |
1 |
4-95496932-G-T |
c.457G>T |
p.A153S |
Missense |
5/13 |
- |
1 |
4-95496938-G-A |
c.463G>A |
p.A155T |
Missense |
5/13 |
- |
1 |
4-95496938-G-T |
c.463G>T |
p.A155S |
Missense |
5/13 |
- |
1 |
4-95496939-C-A |
c.464C>A |
p.A155E |
Missense |
5/13 |
- |
1 |
4-95496939-C-G |
c.464C>G |
p.A155G |
Missense |
5/13 |
- |
1 |
4-95496939-C-T |
c.464C>T |
p.A155V |
Missense |
5/13 |
- |
1 |
4-95496940-G-A |
c.465G>A |
p.A155= |
Synonymous |
5/13 |
- |
4 |
4-95496940-G-C |
c.465G>C |
p.A155= |
Synonymous |
5/13 |
- |
1 |
4-95496940-G-T |
c.465G>T |
p.A155= |
Synonymous |
5/13 |
- |
3 |
4-95496941-A-G |
c.466A>G |
p.T156A |
Missense |
5/13 |
- |
1 |
4-95496944-A-C |
c.469A>C |
p.T157P |
Missense |
5/13 |
- |
1 |
4-95496944-A-G |
c.469A>G |
p.T157A |
Missense |
5/13 |
- |
2 |
4-95496945-C-T |
c.470C>T |
p.T157I |
Missense |
5/13 |
- |
1 |
4-95496946-C-T |
c.471C>T |
p.T157= |
Synonymous |
5/13 |
- |
1 |
4-95496947-T-C |
c.472T>C |
p.S158P |
Missense |
5/13 |
- |
1 |
4-95496948-C-T |
c.473C>T |
p.S158L |
Missense |
5/13 |
- |
1 |
4-95496950-TC-AT |
c.475_476delinsAT |
p.S159I |
Missense |
5/13 |
- |
1 |
4-95496951-CA-TT |
c.476_477delinsTT |
p.S159F |
Missense |
5/13 |
- |
1 |
4-95496951-C-T |
c.476C>T |
p.S159L |
Missense |
5/13 |
- |
1 |
4-95496953-C-T |
c.478C>T |
p.H160Y |
Missense |
5/13 |
- |
1 |
4-95496954-A-C |
c.479A>C |
p.H160P |
Missense |
5/13 |
- |
1 |
4-95496955-T-C |
c.480T>C |
p.H160= |
Synonymous |
5/13 |
- |
1 |
4-95496956-G-A |
c.481G>A |
p.A161T |
Missense |
5/13 |
- |
1 |
4-95496957-C-T |
c.482C>T |
p.A161V |
Missense |
5/13 |
- |
1 |
4-95496958-T-G |
c.483T>G |
p.A161= |
Synonymous |
5/13 |
- |
1 |
4-95496959-T-A |
c.484T>A |
p.S162T |
Missense |
5/13 |
- |
1 |
4-95496959-T-G |
c.484T>G |
p.S162A |
Missense |
5/13 |
- |
1 |
4-95496961-C-A |
c.486C>A |
p.S162= |
Synonymous |
5/13 |
- |
2 |
4-95496961-C-G |
c.486C>G |
p.S162= |
Synonymous |
5/13 |
- |
2 |
4-95496961-C-T |
c.486C>T |
p.S162= |
Synonymous |
5/13 |
- |
3 |
4-95496962-C-A |
c.487C>A |
p.P163T |
Missense |
5/13 |
- |
1 |
4-95496962-C-G |
c.487C>G |
p.P163A |
Missense |
5/13 |
- |
1 |
4-95496962-C-T |
c.487C>T |
p.P163S |
Missense |
5/13 |
- |
2 |
4-95496962-CCTT-C |
c.489_491del |
p.S164del |
InFrameDeletion |
5/13 |
- |
1 |
4-95496965-T-A |
c.490T>A |
p.S164T |
Missense |
5/13 |
- |
1 |
4-95496965-T-C |
c.490T>C |
p.S164P |
Missense |
5/13 |
- |
1 |
4-95496965-TC-GG |
c.490_491delinsGG |
p.S164G |
Missense |
5/13 |
- |
2 |
4-95496965-T-G |
c.490T>G |
p.S164A |
Missense |
5/13 |
- |
3 |
4-95496967-A-C |
c.492A>C |
p.S164= |
Synonymous |
5/13 |
- |
4 |
4-95496967-A-G |
c.492A>G |
p.S164= |
Synonymous |
5/13 |
- |
4 |
4-95496967-A-T |
c.492A>T |
p.S164= |
Synonymous |
5/13 |
- |
4 |
4-95496968-C-T |
c.493C>T |
p.P165S |
Missense |
5/13 |
- |
1 |
4-95496969-C-G |
c.494C>G |
p.P165R |
Missense |
5/13 |
- |
1 |
4-95496969-C-T |
c.494C>T |
p.P165L |
Missense |
5/13 |
- |
3 |
4-95496970-C-A |
c.495C>A |
p.P165= |
Synonymous |
5/13 |
- |
2 |
4-95496970-C-G |
c.495C>G |
p.P165= |
Synonymous |
5/13 |
- |
3 |
4-95496970-C-T |
c.495C>T |
p.P165= |
Synonymous |
5/13 |
- |
3 |
4-95496971-G-A |
c.496G>A |
p.V166M |
Missense |
5/13 |
- |
2 |
4-95496971-GTG-ATC |
c.496_498delinsATC |
p.V166I |
Missense |
5/13 |
- |
1 |
4-95496973-G-A |
c.498G>A |
p.V166= |
Synonymous |
5/13 |
- |
1 |
4-95496973-G-C |
c.498G>C |
p.V166= |
Synonymous |
5/13 |
- |
1 |
4-95496973-G-T |
c.498G>T |
p.V166= |
Synonymous |
5/13 |
- |
1 |
4-95496974-G-A |
c.499G>A |
p.A167T |
Missense |
5/13 |
- |
1 |
4-95496975-C-G |
c.500C>G |
p.A167G |
Missense |
5/13 |
- |
1 |
4-95496975-C-T |
c.500C>T |
p.A167V |
Missense |
5/13 |
- |
1 |
4-95496979-C-T |
c.504C>T |
p.A168= |
Synonymous |
5/13 |
- |
1 |
4-95496980-G-A |
c.505G>A |
p.V169I |
Missense |
5/13 |
- |
3 |
4-95496980-G-C |
c.505G>C |
p.V169L |
Missense |
5/13 |
- |
1 |
4-95496980-GTC-ATG |
c.505_507delinsATG |
p.V169M |
Missense |
5/13 |
- |
1 |
4-95496981-T-C |
c.506T>C |
p.V169A |
Missense |
5/13 |
- |
2 |
4-95496983-A-C |
c.508A>C |
p.T170P |
Missense |
5/13 |
- |
1 |
4-95496983-A-G |
c.508A>G |
p.T170A |
Missense |
5/13 |
- |
1 |
4-95496984-C-T |
c.509C>T |
p.T170I |
Missense |
5/13 |
- |
1 |
4-95496984-CT-GG |
c.509_510delinsGG |
p.T170R |
Missense |
5/13 |
- |
1 |
4-95496984-CT-TG |
c.509_510delinsTG |
p.T170M |
Missense |
5/13 |
- |
1 |
4-95496986-C-A |
c.511C>A |
p.P171T |
Missense |
5/13 |
- |
1 |
4-95496986-C-T |
c.511C>T |
p.P171S |
Missense |
5/13 |
- |
2 |
4-95496987-C-T |
c.512C>T |
p.P171L |
Missense |
5/13 |
- |
3 |
4-95496987-CT-AA |
c.512_513delinsAA |
p.P171Q |
Missense |
5/13 |
- |
1 |
4-95496990-CC-AA |
c.515_516delinsAA |
p.P172Q |
Missense |
5/13 |
- |
1 |
4-95496990-C-T |
c.515C>T |
p.P172L |
Missense |
5/13 |
- |
2 |
4-95496991-C-A |
c.516C>A |
p.P172= |
Synonymous |
5/13 |
- |
1 |
4-95496992-C-A |
c.517C>A |
p.L173M |
Missense |
5/13 |
- |
1 |
4-95496992-C-T |
c.517C>T |
p.L173= |
Synonymous |
5/13 |
- |
1 |
4-95496992-CTG-TTT |
c.517_519delinsTTT |
p.L173F |
Missense |
5/13 |
- |
1 |
4-95496993-T-A |
c.518T>A |
p.L173Q |
Missense |
5/13 |
- |
1 |
4-95496993-T-C |
c.518T>C |
p.L173P |
Missense |
5/13 |
- |
2 |
4-95496994-G-A |
c.519G>A |
p.L173= |
Synonymous |
5/13 |
- |
1 |
4-95496995-T-C |
c.520T>C |
p.F174L |
Missense |
5/13 |
- |
3 |
4-95496995-T-G |
c.520T>G |
p.F174V |
Missense |
5/13 |
- |
1 |
4-95496995-TTC-CATCTT |
c.520_522delinsCATCTT |
p.F174delinsHL |
MultiAAMissense |
5/13 |
- |
1 |
4-95496997-C-A |
c.522C>A |
p.F174L |
Missense |
5/13 |
- |
3 |
4-95496997-C-G |
c.522C>G |
p.F174L |
Missense |
5/13 |
- |
2 |
4-95496996-T-C |
c.521T>C |
p.F174S |
Missense |
5/13 |
- |
1 |
4-95496997-C-T |
c.522C>T |
p.F174= |
Synonymous |
5/13 |
- |
6 |
4-95496998-G-A |
c.523G>A |
p.A175T |
Missense |
5/13 |
- |
1 |
4-95496998-G-T |
c.523G>T |
p.A175S |
Missense |
5/13 |
- |
1 |
4-95497001-G-A |
c.526G>A |
p.A176T |
Missense |
5/13 |
- |
2 |
4-95497001-G-C |
c.526G>C |
p.A176P |
Missense |
5/13 |
- |
1 |
4-95497001-G-T |
c.526G>T |
p.A176S |
Missense |
5/13 |
- |
1 |
4-95497002-C-G |
c.527C>G |
p.A176G |
Missense |
5/13 |
- |
1 |
4-95497004-TC-GA |
c.529_530inv |
p.S177D |
Missense |
5/13 |
- |
2 |
4-95497004-T-G |
c.529T>G |
p.S177A |
Missense |
5/13 |
- |
3 |
4-95497006-T-A |
c.531T>A |
p.S177= |
Synonymous |
5/13 |
- |
1 |
4-95497006-T-C |
c.531T>C |
p.S177= |
Synonymous |
5/13 |
- |
1 |
4-95497006-T-G |
c.531T>G |
p.S177= |
Synonymous |
5/13 |
- |
1 |
4-95497007-G-A |
c.532G>A |
p.G178R |
Missense |
5/13 |
- |
3 |
4-95497007-G-C |
c.532G>C |
p.G178R |
Missense |
5/13 |
- |
2 |
4-95497008-G-A |
c.533G>A |
p.G178E |
Missense |
5/13 |
- |
2 |
4-95497008-GA-AC |
c.533_534delinsAC |
p.G178D |
Missense |
5/13 |
- |
1 |
4-95497008-G-C |
c.533G>C |
p.G178A |
Missense |
5/13 |
- |
1 |
4-95497009-A-C |
c.534A>C |
p.G178= |
Synonymous |
5/13 |
- |
1 |
4-95497009-A-G |
c.534A>G |
p.G178= |
Synonymous |
5/13 |
- |
1 |
4-95497009-A-T |
c.534A>T |
p.G178= |
Synonymous |
5/13 |
- |
1 |
4-95497010-C-A |
c.535C>A |
p.L179M |
Missense |
5/13 |
- |
3 |
4-95497010-C-G |
c.535C>G |
p.L179V |
Missense |
5/13 |
- |
1 |
4-95497010-C-T |
c.535C>T |
p.L179= |
Synonymous |
5/13 |
- |
1 |
4-95497010-CTG-TTT |
c.535_537delinsTTT |
p.L179F |
Missense |
5/13 |
- |
1 |
4-95497011-T-C |
c.536T>C |
p.L179P |
Missense |
5/13 |
- |
1 |
4-95497012-G-A |
c.537G>A |
p.L179= |
Synonymous |
5/13 |
- |
1 |
4-95497013-C-T |
c.538C>T |
p.H180Y |
Missense |
5/13 |
- |
2 |
4-95497014-A-G |
c.539A>G |
p.H180R |
Missense |
5/13 |
- |
2 |
4-95497015-T-A |
c.540T>A |
p.H180Q |
Missense |
5/13 |
- |
1 |
4-95497015-T-G |
c.540T>G |
p.H180Q |
Missense |
5/13 |
- |
1 |
4-95497016-G-A |
c.541G>A |
p.A181T |
Missense |
5/13 |
- |
1 |
4-95497016-G-C |
c.541G>C |
p.A181P |
Missense |
5/13 |
- |
1 |
4-95497016-GC-TG |
c.541_542delinsTG |
p.A181C |
Missense |
5/13 |
- |
1 |
4-95497016-G-T |
c.541G>T |
p.A181S |
Missense |
5/13 |
- |
2 |
4-95497017-C-A |
c.542C>A |
p.A181D |
Missense |
5/13 |
- |
1 |
4-95497017-C-T |
c.542C>T |
p.A181V |
Missense |
5/13 |
- |
2 |
4-95497020-A-G |
c.545A>G |
p.N182S |
Missense |
5/13 |
- |
2 |
4-95497022-G-T |
c.547G>T |
p.A183S |
Missense |
5/13 |
- |
2 |
4-95497023-C-A |
c.548C>A |
p.A183D |
Missense |
5/13 |
- |
1 |
4-95497023-CC-AG |
c.548_549delinsAG |
p.A183E |
Missense |
5/13 |
- |
1 |
4-95497023-C-T |
c.548C>T |
p.A183V |
Missense |
5/13 |
- |
1 |
4-95497025-A-G |
c.550A>G |
p.N184D |
Missense |
5/13 |
- |
1 |
4-95497026-A-G |
c.551A>G |
p.N184S |
Missense |
5/13 |
- |
2 |
4-95497028-C-T |
c.553C>T |
p.L185F |
Missense |
5/13 |
- |
1 |
4-95497029-T-G |
c.554T>G |
p.L185R |
Missense |
5/13 |
- |
1 |
4-95497030-T-A |
c.555T>A |
p.L185= |
Synonymous |
5/13 |
- |
1 |
4-95497030-T-C |
c.555T>C |
p.L185= |
Synonymous |
5/13 |
- |
2 |
4-95497030-T-G |
c.555T>G |
p.L185= |
Synonymous |
5/13 |
- |
1 |
4-95497031-A-G |
c.556A>G |
p.S186G |
Missense |
5/13 |
- |
1 |
4-95497031-AG-TT |
c.556_557delinsTT |
p.S186F |
Missense |
5/13 |
- |
1 |
4-95497034-G-T |
c.559G>T |
p.A187S |
Missense |
5/13 |
- |
2 |
4-95497035-C-A |
c.560C>A |
p.A187D |
Missense |
5/13 |
- |
1 |
4-95497035-C-G |
c.560C>G |
p.A187G |
Missense |
5/13 |
- |
1 |
4-95497035-C-T |
c.560C>T |
p.A187V |
Missense |
5/13 |
- |
1 |
4-95497035-CT-AG |
c.560_561inv |
p.A187E |
Missense |
5/13 |
- |
1 |
4-95497037-G-A |
c.562G>A |
p.D188N |
Missense |
5/13 |
- |
2 |
4-95497038-A-C |
c.563A>C |
p.D188A |
Missense |
5/13 |
- |
1 |
4-95497038-A-G |
c.563A>G |
p.D188G |
Missense |
5/13 |
- |
2 |
4-95497038-GA-G |
c.563del |
p.D188Afs*7 |
Frameshift |
5/13 |
- |
1 |
4-95497040-C-G |
c.565C>G |
p.Q189E |
Missense |
5/13 |
- |
4 |
4-95497041-A-T |
c.566A>T |
p.Q189L |
Missense |
5/13 |
- |
1 |
4-95497042-G-C |
c.567G>C |
p.Q189H |
Missense |
5/13 |
- |
4 |
4-95497042-G-T |
c.567G>T |
p.Q189H |
Missense |
5/13 |
- |
3 |
4-95497043-TC-CT |
c.568_569delinsCT |
p.S190L |
Missense |
5/13 |
- |
1 |
4-95497044-C-T |
c.569C>T |
p.S190F |
Missense |
5/13 |
- |
2 |
4-95497045-T-C |
c.570T>C |
p.S190= |
Synonymous |
5/13 |
- |
1 |
4-95497046-C-A |
c.571C>A |
p.P191T |
Missense |
5/13 |
- |
1 |
4-95497046-C-G |
c.571C>G |
p.P191A |
Missense |
5/13 |
- |
1 |
4-95497047-C-G |
c.572C>G |
p.P191R |
Missense |
5/13 |
- |
2 |
4-95497047-C-T |
c.572C>T |
p.P191L |
Missense |
5/13 |
- |
4 |
4-95497049-TC-GG |
c.574_575delinsGG |
p.S192G |
Missense |
5/13 |
- |
1 |
4-95497050-C-G |
c.575C>G |
p.S192C |
Missense |
5/13 |
- |
1 |
4-95497052-G-A |
c.577G>A |
p.A193T |
Missense |
5/13 |
- |
1 |
4-95497052-G-C |
c.577G>C |
p.A193P |
Missense |
5/13 |
- |
1 |
4-95497054-A-C |
c.579A>C |
p.A193= |
Synonymous |
5/13 |
- |
1 |
4-95497055-C-G |
c.580C>G |
p.L194V |
Missense |
5/13 |
- |
1 |
4-95497056-T-C |
c.581T>C |
p.L194P |
Missense |
5/13 |
- |
1 |
4-95497058-A-G |
c.583A>G |
p.S195G |
Missense |
5/13 |
- |
1 |
4-95497058-AG-TT |
c.583_584delinsTT |
p.S195F |
Missense |
5/13 |
- |
1 |
4-95497059-G-A |
c.584G>A |
p.S195N |
Missense |
5/13 |
- |
2 |
4-95497060-C-T |
c.585C>T |
p.S195= |
Synonymous |
5/13 |
- |
2 |
4-95497061-G-A |
c.586G>A |
p.A196T |
Missense |
5/13 |
- |
1 |
4-95497061-G-C |
c.586G>C |
p.A196P |
Missense |
5/13 |
- |
1 |
4-95497061-G-T |
c.586G>T |
p.A196S |
Missense |
5/13 |
- |
1 |
4-95497062-C-T |
c.587C>T |
p.A196V |
Missense |
5/13 |
- |
1 |
4-95497067-A-C |
c.592A>C |
p.K198Q |
Missense |
5/13 |
- |
1 |
4-95497069-A-G |
c.594A>G |
p.K198= |
Synonymous |
5/13 |
- |
2 |
4-95497070-A-C |
c.595A>C |
p.T199P |
Missense |
5/13 |
- |
1 |
4-95497070-A-G |
c.595A>G |
p.T199A |
Missense |
5/13 |
- |
2 |
4-95497073-G-A |
c.598G>A |
p.A200T |
Missense |
5/13 |
- |
1 |
4-95497074-C-A |
c.599C>A |
p.A200E |
Missense |
5/13 |
- |
1 |
4-95497074-C-T |
c.599C>T |
p.A200V |
Missense |
5/13 |
- |
1 |
4-95497076-G-C |
c.601G>C |
p.V201L |
Missense |
5/13 |
- |
1 |
4-95497078-T-C |
c.603T>C |
p.V201= |
Synonymous |
5/13 |
- |
1 |
4-95497079-AAT-CAA |
c.604_606delinsCAA |
p.N202Q |
Missense |
5/13 |
- |
1 |
4-95497080-A-G |
c.605A>G |
p.N202S |
Missense |
5/13 |
- |
6 |
4-95497085-C-CG |
c.610_611insG |
p.P204Rfs*28 |
Frameshift |
5/13 |
- |
1 |
4-95497086-C-T |
c.611C>T |
p.P204L |
Missense |
5/13 |
- |
1 |
4-95497088-C-A |
c.613C>A |
p.R205= |
Synonymous |
5/13 |
- |
2 |
4-95497088-C-T |
c.613C>T |
p.R205W |
Missense |
5/13 |
- |
4 |
4-95497090-G-A |
c.615G>A |
p.R205= |
Synonymous |
5/13 |
- |
3 |
4-95497090-G-C |
c.615G>C |
p.R205= |
Synonymous |
5/13 |
- |
2 |
4-95497090-G-T |
c.615G>T |
p.R205= |
Synonymous |
5/13 |
- |
2 |
4-95497089-G-A |
c.614G>A |
p.R205Q |
Missense |
5/13 |
- |
3 |
4-95497089-GG-AT |
c.614_615delinsAT |
p.R205H |
Missense |
5/13 |
- |
1 |
4-95497089-G-GTCA |
c.614_615insTCA |
p.Q206dup |
InFrameInsertion |
5/13 |
- |
1 |
4-95497089-G-T |
c.614G>T |
p.R205L |
Missense |
5/13 |
- |
1 |
4-95497092-A-G |
c.617A>G |
p.Q206R |
Missense |
5/13 |
- |
1 |
4-95497093-G-C |
c.618G>C |
p.Q206H |
Missense |
5/13 |
- |
2 |
4-95497093-G-T |
c.618G>T |
p.Q206H |
Missense |
5/13 |
- |
2 |
4-95497097-A-G |
c.622A>G |
p.T208A |
Missense |
5/13 |
- |
3 |
4-95497098-CA-TG |
c.623_624inv |
p.T208M |
Missense |
5/13 |
- |
1 |
4-95497100-G-A |
c.625G>A |
p.V209I |
Missense |
5/13 |
- |
1 |
4-95497101-T-C |
c.626T>C |
p.V209A |
Missense |
5/13 |
- |
1 |
4-95497102-C-T |
c.627C>T |
p.V209= |
Synonymous |
5/13 |
- |
1 |
4-95497103-AC-GA |
c.628_629delinsGA |
p.T210D |
Missense |
5/13 |
- |
1 |
4-95497103-A-G |
c.628A>G |
p.T210A |
Missense |
5/13 |
- |
2 |
4-95497106-A-C |
c.631A>C |
p.S211R |
Missense |
5/13 |
- |
1 |
4-95497106-AG-GC |
c.631_632delinsGC |
p.S211A |
Missense |
5/13 |
- |
4 |
4-95497108-C-T |
c.633C>T |
p.S211= |
Synonymous |
5/13 |
- |
4 |
4-95497111-G-A |
c.636G>A |
p.V212= |
Synonymous |
5/13 |
- |
3 |
4-95497111-G-C |
c.636G>C |
p.V212= |
Synonymous |
5/13 |
- |
1 |
4-95497112-TG-GC |
c.637_638delinsGC |
p.C213A |
Missense |
5/13 |
- |
1 |
4-95497113-G-C |
c.638G>C |
p.C213S |
Missense |
5/13 |
- |
2 |
4-95497114-T-C |
c.639T>C |
p.C213= |
Synonymous |
5/13 |
- |
2 |
4-95497114-T-G |
c.639T>G |
p.C213W |
Missense |
5/13 |
- |
2 |
4-95497115-T-C |
c.640T>C |
p.S214P |
Missense |
5/13 |
- |
2 |
4-95497115-TC-GA |
c.640_641inv |
p.S214D |
Missense |
5/13 |
- |
1 |
4-95497115-T-G |
c.640T>G |
p.S214A |
Missense |
5/13 |
- |
3 |
4-95497116-C-A |
c.641C>A |
p.S214Y |
Missense |
5/13 |
- |
1 |
4-95497116-C-T |
c.641C>T |
p.S214F |
Missense |
5/13 |
- |
4 |
4-95497117-C-A |
c.642C>A |
p.S214= |
Synonymous |
5/13 |
- |
1 |
4-95497117-C-G |
c.642C>G |
p.S214= |
Synonymous |
5/13 |
- |
1 |
4-95497117-C-T |
c.642C>T |
p.S214= |
Synonymous |
5/13 |
- |
1 |
4-95497118-G-A |
c.643G>A |
p.E215K |
Missense |
5/13 |
- |
4 |
4-95497118-G-C |
c.643G>C |
p.E215Q |
Missense |
5/13 |
- |
1 |
4-95497121-ACT-GAG |
c.646_648delinsGAG |
p.T216E |
Missense |
5/13 |
- |
1 |
4-95497121-A-G |
c.646A>G |
p.T216A |
Missense |
5/13 |
- |
1 |
4-95497124-TC-CT |
c.649_650delinsCT |
p.S217L |
Missense |
5/13 |
- |
1 |
4-95497124-TCT-GAG |
c.649_651delinsGAG |
p.S217E |
Missense |
5/13 |
- |
1 |
4-95497124-T-G |
c.649T>G |
p.S217A |
Missense |
5/13 |
- |
2 |
4-95497125-C-G |
c.650C>G |
p.S217C |
Missense |
5/13 |
- |
1 |
4-95497125-C-T |
c.650C>T |
p.S217F |
Missense |
5/13 |
- |
5 |
4-95497126-T-A |
c.651T>A |
p.S217= |
Synonymous |
5/13 |
- |
1 |
4-95497126-T-C |
c.651T>C |
p.S217= |
Synonymous |
5/13 |
- |
1 |
4-95497126-T-G |
c.651T>G |
p.S217= |
Synonymous |
5/13 |
- |
1 |
4-95497127-C-A |
c.652C>A |
p.Q218K |
Missense |
5/13 |
- |
1 |
4-95497127-C-T |
c.652C>T |
p.Q218* |
Nonsense |
5/13 |
- |
1 |
4-95497128-A-G |
c.653A>G |
p.Q218R |
Missense |
5/13 |
- |
1 |
4-95497129-G-T |
c.654G>T |
p.Q218H |
Missense |
5/13 |
- |
1 |
4-95497130-G-A |
c.655G>A |
p.E219K |
Missense |
5/13 |
- |
3 |
4-95497130-G-C |
c.655G>C |
p.E219Q |
Missense |
5/13 |
- |
1 |
4-95497133-CTA-ATG |
c.658_660delinsATG |
p.L220M |
Missense |
5/13 |
- |
1 |
4-95497134-T-C |
c.659T>C |
p.L220P |
Missense |
5/13 |
- |
1 |
4-95497134-T-G |
c.659T>G |
p.L220R |
Missense |
5/13 |
- |
2 |
4-95497136-G-A |
c.661G>A |
p.A221T |
Missense |
5/13 |
- |
4 |
4-95497136-G-C |
c.661G>C |
p.A221P |
Missense |
5/13 |
- |
1 |
4-95497137-C-G |
c.662C>G |
p.A221G |
Missense |
5/13 |
- |
1 |
4-95497137-C-T |
c.662C>T |
p.A221V |
Missense |
5/13 |
- |
1 |
4-95497137-GC-G |
c.662del |
p.A221Efs*44 |
Frameshift |
5/13 |
- |
1 |
4-95497138-A-C |
c.663A>C |
p.A221= |
Synonymous |
5/13 |
- |
1 |
4-95497138-A-G |
c.663A>G |
p.A221= |
Synonymous |
5/13 |
- |
1 |
4-95497138-A-T |
c.663A>T |
p.A221= |
Synonymous |
5/13 |
- |
1 |
4-95497139-G-A |
c.664G>A |
p.E222K |
Missense |
5/13 |
- |
1 |
4-95497139-G-C |
c.664G>C |
p.E222Q |
Missense |
5/13 |
- |
1 |
4-95497142-G-A |
c.667G>A |
p.G223R |
Missense |
5/13 |
- |
5 |
4-95497142-G-C |
c.667G>C |
p.G223R |
Missense |
5/13 |
- |
3 |
4-95497142-GGA-AGC |
c.667_669delinsAGC |
p.G223S |
Missense |
5/13 |
- |
1 |
4-95497142-GGA-TGT |
c.667_669delinsTGT |
p.G223C |
Missense |
5/13 |
- |
1 |
4-95497143-G-A |
c.668G>A |
p.G223E |
Missense |
5/13 |
- |
2 |
4-95497143-GA-AC |
c.668_669delinsAC |
p.G223D |
Missense |
5/13 |
- |
2 |
4-95497143-G-C |
c.668G>C |
p.G223A |
Missense |
5/13 |
- |
2 |
4-95497145-C-T |
c.670C>T |
p.Q224* |
Nonsense |
5/13 |
- |
1 |
4-95497147-AGAG-A |
c.672_674del |
p.R226del |
InFrameDeletion |
5/13 |
- |
1 |
4-95497147-G-T |
c.672G>T |
p.Q224H |
Missense |
5/13 |
- |
1 |
4-95497148-AGA-CAT |
c.673_675delinsCAT |
p.R225H |
Missense |
5/13 |
- |
1 |
4-95497148-AGA-TGG |
c.673_675delinsTGG |
p.R225W |
Missense |
5/13 |
- |
1 |
4-95497148-AGA-TGT |
c.673_675delinsTGT |
p.R225C |
Missense |
5/13 |
- |
2 |
4-95497148-AG-CA |
c.673_674delinsCA |
p.R225Q |
Missense |
5/13 |
- |
1 |
4-95497148-AG-CC |
c.673_674delinsCC |
p.R225P |
Missense |
5/13 |
- |
1 |
4-95497148-A-T |
c.673A>T |
p.R225* |
Nonsense |
5/13 |
- |
1 |
4-95497149-G-A |
c.674G>A |
p.R225K |
Missense |
5/13 |
- |
1 |
4-95497147-GAGA-G |
c.676_678del |
p.R226del |
InFrameDeletion |
5/13 |
- |
1 |
4-95497151-A-G |
c.676A>G |
p.R226G |
Missense |
5/13 |
- |
1 |
4-95497151-AGA-CAT |
c.676_678delinsCAT |
p.R226H |
Missense |
5/13 |
- |
1 |
4-95497151-A-T |
c.676A>T |
p.R226* |
Nonsense |
5/13 |
- |
1 |
4-95497152-G-A |
c.677G>A |
p.R226K |
Missense |
5/13 |
- |
1 |
4-95497154-G-A |
c.679G>A |
p.G227R |
Missense |
5/13 |
- |
1 |
4-95497154-G-C |
c.679G>C |
p.G227R |
Missense |
5/13 |
- |
1 |
4-95497155-G-A |
c.680G>A |
p.G227E |
Missense |
5/13 |
- |
1 |
4-95497155-G-C |
c.680G>C |
p.G227A |
Missense |
5/13 |
- |
2 |
4-95497155-G-T |
c.680G>T |
p.G227V |
Missense |
5/13 |
- |
1 |
4-95497158-C-CTCA |
c.683_684insTCA |
p.S228_Q229insH |
InFrameInsertion |
5/13 |
- |
1 |
4-95497158-C-T |
c.683C>T |
p.S228F |
Missense |
5/13 |
- |
6 |
4-95497159-C-A |
c.684C>A |
p.S228= |
Synonymous |
5/13 |
- |
2 |
4-95497159-C-G |
c.684C>G |
p.S228= |
Synonymous |
5/13 |
- |
1 |
4-95497159-C-T |
c.684C>T |
p.S228= |
Synonymous |
5/13 |
- |
2 |
4-95497160-C-A |
c.685C>A |
p.Q229K |
Missense |
5/13 |
- |
1 |
4-95497163-G-A |
c.688G>A |
p.G230S |
Missense |
5/13 |
- |
1 |
4-95497163-G-T |
c.688G>T |
p.G230C |
Missense |
5/13 |
- |
1 |
4-95497166-G-A |
c.691G>A |
p.D231N |
Missense |
5/13 |
- |
1 |
4-95497167-A-C |
c.692A>C |
p.D231A |
Missense |
5/13 |
- |
1 |
4-95497169-AG-CC |
c.694_695delinsCC |
p.S232P |
Missense |
5/13 |
- |
1 |
4-95497169-AG-TT |
c.694_695delinsTT |
p.S232F |
Missense |
5/13 |
- |
2 |
4-95497169-A-T |
c.694A>T |
p.S232C |
Missense |
5/13 |
- |
1 |
4-95497170-G-A |
c.695G>A |
p.S232N |
Missense |
5/13 |
- |
1 |
4-95497172-A-G |
c.697A>G |
p.K233E |
Missense |
5/13 |
- |
1 |
4-95497173-A-G |
c.698A>G |
p.K233R |
Missense |
5/13 |
- |
1 |
4-95497177-G-C |
c.702G>C |
p.Q234H |
Missense |
5/13 |
- |
2 |
4-95497177-G-T |
c.702G>T |
p.Q234H |
Missense |
5/13 |
- |
2 |
4-95497178-C-G |
c.703C>G |
p.Q235E |
Missense |
5/13 |
- |
1 |
4-95497182-A-T |
c.707A>T |
p.N236I |
Missense |
5/13 |
- |
1 |
4-95497184-G-A |
c.709G>A |
p.G237S |
Missense |
5/13 |
- |
1 |
4-95497184-G-C |
c.709G>C |
p.G237R |
Missense |
5/13 |
- |
2 |
4-95497185-G-C |
c.710G>C |
p.G237A |
Missense |
5/13 |
- |
2 |
4-95497186-G-A |
c.710+1G>A |
- |
IntronicSNV |
- |
5/12 |
2 |
4-95497187-T-C |
c.710+2T>C |
- |
IntronicSNV |
- |
5/12 |
1 |
4-95498617-GAT-G |
c.710+1449_710+1450del |
- |
IntronicDeletion |
- |
5/12 |
1 |
4-95500499-A-G |
c.710+3314A>G |
- |
IntronicSNV |
- |
5/12 |
1 |
4-95500628-A-G |
c.710+3443A>G |
- |
IntronicSNV |
- |
5/12 |
1 |
4-95500830-C-T |
c.710+3645C>T |
- |
IntronicSNV |
- |
5/12 |
1 |
4-95501166-T-C |
c.710+3981T>C |
- |
IntronicSNV |
- |
5/12 |
1 |
4-95503578-T-C |
c.711-3138T>C |
- |
IntronicSNV |
- |
5/12 |
2 |
4-95503633-G-C |
c.711-3083G>C |
- |
IntronicSNV |
- |
5/12 |
1 |
4-95503670-G-T |
c.711-3046G>T |
- |
IntronicSNV |
- |
5/12 |
2 |
4-95503873-C-T |
c.711-2843C>T |
- |
IntronicSNV |
- |
5/12 |
1 |
4-95503902-T-C |
c.711-2814T>C |
- |
IntronicSNV |
- |
5/12 |
5 |
4-95505592-A-G |
c.711-1124A>G |
- |
IntronicSNV |
- |
5/12 |
1 |
4-95505592-A-T |
c.711-1124A>T |
- |
IntronicSNV |
- |
5/12 |
1 |
4-95505975-C-T |
c.711-741C>T |
- |
IntronicSNV |
- |
5/12 |
4 |
4-95506214-G-A |
c.711-502G>A |
- |
IntronicSNV |
- |
5/12 |
5 |
4-95506293-G-A |
c.711-423G>A |
- |
IntronicSNV |
- |
5/12 |
1 |
4-95506399-T-A |
c.711-317T>A |
- |
IntronicSNV |
- |
5/12 |
2 |
4-95506399-T-G |
c.711-317T>G |
- |
IntronicSNV |
- |
5/12 |
2 |
4-95506717-C-T |
c.712C>T |
p.P238S |
Missense |
6/13 |
- |
1 |
4-95506718-CA-AT |
c.713_714delinsAT |
p.P238H |
Missense |
6/13 |
- |
1 |
4-95506718-C-T |
c.713C>T |
p.P238L |
Missense |
6/13 |
- |
1 |
4-95506720-C-T |
c.715C>T |
p.P239S |
Missense |
6/13 |
- |
4 |
4-95506721-C-G |
c.716C>G |
p.P239R |
Missense |
6/13 |
- |
1 |
4-95506723-AGA-TGT |
c.718_720delinsTGT |
p.R240C |
Missense |
6/13 |
- |
2 |
4-95506723-AG-GC |
c.718_719delinsGC |
p.R240A |
Missense |
6/13 |
- |
1 |
4-95506723-A-T |
c.718A>T |
p.R240* |
Nonsense |
6/13 |
- |
1 |
4-95506724-G-A |
c.719G>A |
p.R240K |
Missense |
6/13 |
- |
1 |
4-95506723-A-C |
c.718A>C |
p.R240= |
Synonymous |
6/13 |
- |
1 |
4-95506725-A-G |
c.720A>G |
p.R240= |
Synonymous |
6/13 |
- |
1 |
4-95506726-A-G |
c.721A>G |
p.K241E |
Missense |
6/13 |
- |
1 |
4-95506728-A-G |
c.723A>G |
p.K241= |
Synonymous |
6/13 |
- |
2 |
4-95506729-C-T |
c.724C>T |
p.H242Y |
Missense |
6/13 |
- |
1 |
4-95506733-T-C |
c.728T>C |
p.I243T |
Missense |
6/13 |
- |
1 |
4-95506735-G-A |
c.730G>A |
p.V244M |
Missense |
6/13 |
- |
1 |
4-95506735-GTG-ATC |
c.730_732delinsATC |
p.V244I |
Missense |
6/13 |
- |
1 |
4-95506736-T-C |
c.731T>C |
p.V244A |
Missense |
6/13 |
- |
1 |
4-95506737-G-A |
c.732G>A |
p.V244= |
Synonymous |
6/13 |
- |
1 |
4-95506737-G-C |
c.732G>C |
p.V244= |
Synonymous |
6/13 |
- |
1 |
4-95506738-G-C |
c.733G>C |
p.E245Q |
Missense |
6/13 |
- |
3 |
4-95506740-G-C |
c.735G>C |
p.E245D |
Missense |
6/13 |
- |
2 |
4-95506740-G-T |
c.735G>T |
p.E245D |
Missense |
6/13 |
- |
2 |
4-95506741-C-G |
c.736C>G |
p.R246G |
Missense |
6/13 |
- |
1 |
4-95506741-C-T |
c.736C>T |
p.R246C |
Missense |
6/13 |
- |
5 |
4-95506742-G-A |
c.737G>A |
p.R246H |
Missense |
6/13 |
- |
5 |
4-95506742-G-T |
c.737G>T |
p.R246L |
Missense |
6/13 |
- |
2 |
4-95506743-GCT-G |
c.738_739del |
p.T248Rfs*10 |
Frameshift |
6/13 |
- |
1 |
4-95506744-T-C |
c.739T>C |
p.Y247H |
Missense |
6/13 |
- |
1 |
4-95506744-T-G |
c.739T>G |
p.Y247D |
Missense |
6/13 |
- |
1 |
4-95506745-A-C |
c.740A>C |
p.Y247S |
Missense |
6/13 |
- |
1 |
4-95506748-CA-TG |
c.743_744inv |
p.T248M |
Missense |
6/13 |
- |
1 |
4-95506749-A-G |
c.744A>G |
p.T248= |
Synonymous |
6/13 |
- |
1 |
4-95506752-G-A |
c.747G>A |
p.E249= |
Synonymous |
6/13 |
- |
2 |
4-95506752-G-C |
c.747G>C |
p.E249D |
Missense |
6/13 |
- |
1 |
4-95506752-G-T |
c.747G>T |
p.E249D |
Missense |
6/13 |
- |
1 |
4-95506759-C-T |
c.754C>T |
p.H252Y |
Missense |
6/13 |
- |
2 |
4-95506760-A-T |
c.755A>T |
p.H252L |
Missense |
6/13 |
- |
1 |
4-95506761-T-C |
c.756T>C |
p.H252= |
Synonymous |
6/13 |
- |
4 |
4-95506762-G-A |
c.757G>A |
p.V253I |
Missense |
6/13 |
- |
3 |
4-95506763-T-C |
c.758T>C |
p.V253A |
Missense |
6/13 |
- |
1 |
4-95506764-A-G |
c.759A>G |
p.V253= |
Synonymous |
6/13 |
- |
1 |
4-95506765-C-A |
c.760C>A |
p.P254T |
Missense |
6/13 |
- |
2 |
4-95506766-C-T |
c.761C>T |
p.P254L |
Missense |
6/13 |
- |
2 |
4-95506769-C-T |
c.764C>T |
p.T255I |
Missense |
6/13 |
- |
1 |
4-95506771-C-T |
c.766C>T |
p.H256Y |
Missense |
6/13 |
- |
1 |
4-95506773-C-A |
c.768C>A |
p.H256Q |
Missense |
6/13 |
- |
1 |
4-95506774-A-G |
c.769A>G |
p.S257G |
Missense |
6/13 |
- |
2 |
4-95506774-AG-CT |
c.769_770inv |
p.S257L |
Missense |
6/13 |
- |
1 |
4-95506774-AG-GC |
c.769_770delinsGC |
p.S257A |
Missense |
6/13 |
- |
1 |
4-95506774-AGT-GAG |
c.769_771delinsGAG |
p.S257E |
Missense |
6/13 |
- |
1 |
4-95506774-A-T |
c.769A>T |
p.S257C |
Missense |
6/13 |
- |
2 |
4-95506775-G-C |
c.770G>C |
p.S257T |
Missense |
6/13 |
- |
1 |
4-95506775-G-T |
c.770G>T |
p.S257I |
Missense |
6/13 |
- |
1 |
4-95506776-T-C |
c.771T>C |
p.S257= |
Synonymous |
6/13 |
- |
3 |
4-95506777-G-A |
c.772G>A |
p.D258N |
Missense |
6/13 |
- |
1 |
4-95506777-G-T |
c.772G>T |
p.D258Y |
Missense |
6/13 |
- |
3 |
4-95506778-A-C |
c.773A>C |
p.D258A |
Missense |
6/13 |
- |
1 |
4-95506779-T-A |
c.774T>A |
p.D258E |
Missense |
6/13 |
- |
2 |
4-95506779-T-G |
c.774T>G |
p.D258E |
Missense |
6/13 |
- |
2 |
4-95506780-G-A |
c.775G>A |
p.A259T |
Missense |
6/13 |
- |
3 |
4-95506781-C-T |
c.776C>T |
p.A259V |
Missense |
6/13 |
- |
1 |
4-95506784-G-A |
c.779G>A |
p.S260N |
Missense |
6/13 |
- |
1 |
4-95506784-G-T |
c.779G>T |
p.S260I |
Missense |
6/13 |
- |
1 |
4-95506785-C-G |
c.780C>G |
p.S260R |
Missense |
6/13 |
- |
1 |
4-95506785-C-T |
c.780C>T |
p.S260= |
Synonymous |
6/13 |
- |
2 |
4-95506787-A-C |
c.782A>C |
p.K261T |
Missense |
6/13 |
- |
1 |
4-95506788-G-A |
c.783G>A |
p.K261= |
Synonymous |
6/13 |
- |
1 |
4-95506791-G-A |
c.786G>A |
p.K262= |
Synonymous |
6/13 |
- |
1 |
4-95506791-G-C |
c.786G>C |
p.K262N |
Missense |
6/13 |
- |
1 |
4-95506792-AGA-CAT |
c.787_789delinsCAT |
p.R263H |
Missense |
6/13 |
- |
1 |
4-95506793-G-A |
c.788G>A |
p.R263K |
Missense |
6/13 |
- |
1 |
4-95506793-G-T |
c.788G>T |
p.R263I |
Missense |
6/13 |
- |
2 |
4-95506795-CTG-TTT |
c.790_792delinsTTT |
p.L264F |
Missense |
6/13 |
- |
1 |
4-95506797-G-GC |
c.792_793insC |
p.I265Hfs*2 |
Frameshift |
6/13 |
- |
1 |
4-95506799-T-C |
c.794T>C |
p.I265T |
Missense |
6/13 |
- |
1 |
4-95506801-G-A |
c.796G>A |
p.E266K |
Missense |
6/13 |
- |
1 |
4-95506801-GAG-ATC |
c.796_798delinsATC |
p.E266I |
Missense |
6/13 |
- |
1 |
4-95506802-A-T |
c.797A>T |
p.E266V |
Missense |
6/13 |
- |
1 |
4-95506803-G-A |
c.798G>A |
p.E266= |
Synonymous |
6/13 |
- |
1 |
4-95506804-G-A |
c.799G>A |
p.D267N |
Missense |
6/13 |
- |
1 |
4-95506804-G-T |
c.799G>T |
p.D267Y |
Missense |
6/13 |
- |
1 |
4-95506805-A-G |
c.800A>G |
p.D267G |
Missense |
6/13 |
- |
1 |
4-95506805-GATA-G |
c.800_802del |
p.D267_T268delinsA |
MultiAAMissense |
6/13 |
- |
1 |
4-95506806-T-C |
c.801T>C |
p.D267= |
Synonymous |
6/13 |
- |
2 |
4-95506808-C-T |
c.803C>T |
p.T268I |
Missense |
6/13 |
- |
2 |
4-95506810-G-A |
c.805G>A |
p.E269K |
Missense |
6/13 |
- |
1 |
4-95506810-GA-TC |
c.805_806inv |
p.E269S |
Missense |
6/13 |
- |
1 |
4-95506812-A-AG |
c.808dup |
p.D270Gfs*24 |
Frameshift |
6/13 |
- |
1 |
4-95506813-G-A |
c.808G>A |
p.D270N |
Missense |
6/13 |
- |
3 |
4-95506815-C-T |
c.810C>T |
p.D270= |
Synonymous |
6/13 |
- |
1 |
4-95506817-G-A |
c.812G>A |
p.W271* |
Nonsense |
6/13 |
- |
1 |
4-95506817-G-T |
c.812G>T |
p.W271L |
Missense |
6/13 |
- |
1 |
4-95506818-G-C |
c.813G>C |
p.W271C |
Missense |
6/13 |
- |
2 |
4-95506819-C-T |
c.814C>T |
p.R272C |
Missense |
6/13 |
- |
1 |
4-95506820-G-A |
c.815G>A |
p.R272H |
Missense |
6/13 |
- |
1 |
4-95506820-GT-AA |
c.815_816delinsAA |
p.R272Q |
Missense |
6/13 |
- |
1 |
4-95506821-T-A |
c.816T>A |
p.R272= |
Synonymous |
6/13 |
- |
2 |
4-95506821-T-C |
c.816T>C |
p.R272= |
Synonymous |
6/13 |
- |
2 |
4-95506821-T-G |
c.816T>G |
p.R272= |
Synonymous |
6/13 |
- |
2 |
4-95506822-C-A |
c.817C>A |
p.P273T |
Missense |
6/13 |
- |
2 |
4-95506822-C-T |
c.817C>T |
p.P273S |
Missense |
6/13 |
- |
2 |
4-95506823-C-A |
c.818C>A |
p.P273Q |
Missense |
6/13 |
- |
1 |
4-95506823-C-T |
c.818C>T |
p.P273L |
Missense |
6/13 |
- |
2 |
4-95506824-A-C |
c.819A>C |
p.P273= |
Synonymous |
6/13 |
- |
2 |
4-95506824-A-G |
c.819A>G |
p.P273= |
Synonymous |
6/13 |
- |
2 |
4-95506824-A-T |
c.819A>T |
p.P273= |
Synonymous |
6/13 |
- |
2 |
4-95506825-A-G |
c.820A>G |
p.R274G |
Missense |
6/13 |
- |
1 |
4-95506825-AGG-CAT |
c.820_822delinsCAT |
p.R274H |
Missense |
6/13 |
- |
1 |
4-95506825-AGG-TGT |
c.820_822delinsTGT |
p.R274C |
Missense |
6/13 |
- |
2 |
4-95506827-G-A |
c.822G>A |
p.R274= |
Synonymous |
6/13 |
- |
4 |
4-95506828-AC-TG |
c.823_824delinsTG |
p.T275C |
Missense |
6/13 |
- |
1 |
4-95506829-C-T |
c.824C>T |
p.T275I |
Missense |
6/13 |
- |
1 |
4-95506829-CT-TG |
c.824_825delinsTG |
p.T275M |
Missense |
6/13 |
- |
1 |
4-95506830-T-A |
c.825T>A |
p.T275= |
Synonymous |
6/13 |
- |
1 |
4-95506830-T-C |
c.825T>C |
p.T275= |
Synonymous |
6/13 |
- |
2 |
4-95506830-T-G |
c.825T>G |
p.T275= |
Synonymous |
6/13 |
- |
1 |
4-95506831-GGA-TGT |
c.826_828delinsTGT |
p.G276C |
Missense |
6/13 |
- |
1 |
4-95506832-G-A |
c.827G>A |
p.G276E |
Missense |
6/13 |
- |
2 |
4-95506834-A-C |
c.829A>C |
p.T277P |
Missense |
6/13 |
- |
1 |
4-95506834-A-G |
c.829A>G |
p.T277A |
Missense |
6/13 |
- |
1 |
4-95506835-C-G |
c.830C>G |
p.T277R |
Missense |
6/13 |
- |
1 |
4-95506837-A-C |
c.832A>C |
p.T278P |
Missense |
6/13 |
- |
3 |
4-95506837-A-G |
c.832A>G |
p.T278A |
Missense |
6/13 |
- |
20 |
4-95506838-C-T |
c.833C>T |
p.T278I |
Missense |
6/13 |
- |
1 |
4-95506840-C-G |
c.835C>G |
p.Q279E |
Missense |
6/13 |
- |
3 |
4-95506840-C-T |
c.835C>T |
p.Q279* |
Nonsense |
6/13 |
- |
2 |
4-95506841-A-C |
c.836A>C |
p.Q279P |
Missense |
6/13 |
- |
1 |
4-95506841-A-G |
c.836A>G |
p.Q279R |
Missense |
6/13 |
- |
1 |
4-95506842-G-A |
c.837G>A |
p.Q279= |
Synonymous |
6/13 |
- |
11 |
4-95506842-G-C |
c.837G>C |
p.Q279H |
Missense |
6/13 |
- |
1 |
4-95506842-G-T |
c.837G>T |
p.Q279H |
Missense |
6/13 |
- |
1 |
4-95506844-C-T |
c.839C>T |
p.S280F |
Missense |
6/13 |
- |
1 |
4-95506845-T-A |
c.840T>A |
p.S280= |
Synonymous |
6/13 |
- |
1 |
4-95506845-T-C |
c.840T>C |
p.S280= |
Synonymous |
6/13 |
- |
1 |
4-95506845-T-G |
c.840T>G |
p.S280= |
Synonymous |
6/13 |
- |
1 |
4-95506846-CG-GC |
c.841_842delinsGC |
p.R281A |
Missense |
6/13 |
- |
1 |
4-95506846-C-T |
c.841C>T |
p.R281C |
Missense |
6/13 |
- |
2 |
4-95506847-G-A |
c.842G>A |
p.R281H |
Missense |
6/13 |
- |
2 |
4-95506848-C-A |
c.843C>A |
p.R281= |
Synonymous |
6/13 |
- |
1 |
4-95506848-C-G |
c.843C>G |
p.R281= |
Synonymous |
6/13 |
- |
1 |
4-95506848-C-T |
c.843C>T |
p.R281= |
Synonymous |
6/13 |
- |
2 |
4-95506849-CTCTTTCCGAATCCTTGCCCAG-C |
c.844_864del |
p.S282_Q288del |
InFrameDeletion |
6/13 |
- |
1 |
4-95506849-TC-GA |
c.844_845inv |
p.S282D |
Missense |
6/13 |
- |
1 |
4-95506850-CT-AA |
c.845_846delinsAA |
p.S282* |
Nonsense |
6/13 |
- |
1 |
4-95506851-T-A |
c.846T>A |
p.S282= |
Synonymous |
6/13 |
- |
1 |
4-95506851-T-C |
c.846T>C |
p.S282= |
Synonymous |
6/13 |
- |
1 |
4-95506851-T-G |
c.846T>G |
p.S282= |
Synonymous |
6/13 |
- |
1 |
4-95506853-T-A |
c.848T>A |
p.F283Y |
Missense |
6/13 |
- |
2 |
4-95506854-C-T |
c.849C>T |
p.F283= |
Synonymous |
6/13 |
- |
1 |
4-95506855-CG-AA |
c.850_851delinsAA |
p.R284K |
Missense |
6/13 |
- |
1 |
4-95506855-CGA-TGG |
c.850_852delinsTGG |
p.R284W |
Missense |
6/13 |
- |
2 |
4-95506855-CGA-TGT |
c.850_852delinsTGT |
p.R284C |
Missense |
6/13 |
- |
1 |
4-95506855-C-T |
c.850C>T |
p.R284* |
Nonsense |
6/13 |
- |
4 |
4-95506856-G-A |
c.851G>A |
p.R284Q |
Missense |
6/13 |
- |
2 |
4-95506856-GA-AT |
c.851_852delinsAT |
p.R284H |
Missense |
6/13 |
- |
1 |
4-95506861-C-T |
c.856C>T |
p.L286F |
Missense |
6/13 |
- |
7 |
4-95506862-T-C |
c.857T>C |
p.L286P |
Missense |
6/13 |
- |
3 |
4-95506864-G-C |
c.859G>C |
p.A287P |
Missense |
6/13 |
- |
1 |
4-95506865-C-A |
c.860C>A |
p.A287D |
Missense |
6/13 |
- |
1 |
4-95506865-C-G |
c.860C>G |
p.A287G |
Missense |
6/13 |
- |
1 |
4-95506867-C-A |
c.862C>A |
p.Q288K |
Missense |
6/13 |
- |
2 |
4-95506869-G-A |
c.864G>A |
p.Q288= |
Synonymous |
6/13 |
- |
2 |
4-95506874-C-A |
c.869C>A |
p.T290N |
Missense |
6/13 |
- |
1 |
4-95506874-C-T |
c.869C>T |
p.T290I |
Missense |
6/13 |
- |
1 |
4-95506875-T-A |
c.870T>A |
p.T290= |
Synonymous |
6/13 |
- |
1 |
4-95506875-T-C |
c.870T>C |
p.T290= |
Synonymous |
6/13 |
- |
1 |
4-95506875-T-G |
c.870T>G |
p.T290= |
Synonymous |
6/13 |
- |
1 |
4-95506876-G-T |
c.871G>T |
p.G291W |
Missense |
6/13 |
- |
1 |
4-95506880-C-T |
c.875C>T |
p.T292I |
Missense |
6/13 |
- |
1 |
4-95506882-G-A |
c.877G>A |
p.E293K |
Missense |
6/13 |
- |
3 |
4-95506883-A-C |
c.878A>C |
p.E293A |
Missense |
6/13 |
- |
1 |
4-95506883-A-G |
c.878A>G |
p.E293G |
Missense |
6/13 |
- |
2 |
4-95506889-G-A |
c.883+1G>A |
- |
IntronicSNV |
- |
6/12 |
1 |
4-95506935-C-T |
c.883+47C>T |
- |
IntronicSNV |
- |
6/12 |
1 |
4-95507176-C-T |
c.883+288C>T |
- |
IntronicSNV |
- |
6/12 |
1 |
4-95507520-A-G |
c.884-39A>G |
- |
IntronicSNV |
- |
6/12 |
1 |
4-95507560-G-A |
c.885G>A |
p.L295= |
Synonymous |
7/13 |
- |
1 |
4-95507563-A-G |
c.888A>G |
p.K296= |
Synonymous |
7/13 |
- |
2 |
4-95507565-A-G |
c.890A>G |
p.E297G |
Missense |
7/13 |
- |
1 |
4-95507565-A-T |
c.890A>T |
p.E297V |
Missense |
7/13 |
- |
1 |
4-95507566-A-C |
c.891A>C |
p.E297D |
Missense |
7/13 |
- |
1 |
4-95507566-A-T |
c.891A>T |
p.E297D |
Missense |
7/13 |
- |
1 |
4-95507567-T-A |
c.892T>A |
p.S298T |
Missense |
7/13 |
- |
1 |
4-95507569-T-A |
c.894T>A |
p.S298= |
Synonymous |
7/13 |
- |
1 |
4-95507569-T-C |
c.894T>C |
p.S298= |
Synonymous |
7/13 |
- |
2 |
4-95507569-T-G |
c.894T>G |
p.S298= |
Synonymous |
7/13 |
- |
1 |
4-95507573-G-A |
c.898G>A |
p.A300T |
Missense |
7/13 |
- |
1 |
4-95507573-G-T |
c.898G>T |
p.A300S |
Missense |
7/13 |
- |
2 |
4-95507574-C-G |
c.899C>G |
p.A300G |
Missense |
7/13 |
- |
1 |
4-95507576-G-A |
c.901G>A |
p.D301N |
Missense |
7/13 |
- |
3 |
4-95507576-G-T |
c.901G>T |
p.D301Y |
Missense |
7/13 |
- |
1 |
4-95507579-A-G |
c.904A>G |
p.N302D |
Missense |
7/13 |
- |
1 |
4-95507580-A-G |
c.905A>G |
p.N302S |
Missense |
7/13 |
- |
2 |
4-95507580-A-T |
c.905A>T |
p.N302I |
Missense |
7/13 |
- |
1 |
4-95507581-T-C |
c.906T>C |
p.N302= |
Synonymous |
7/13 |
- |
1 |
4-95507583-C-T |
c.908C>T |
p.T303I |
Missense |
7/13 |
- |
1 |
4-95507585-A-G |
c.910A>G |
p.K304E |
Missense |
7/13 |
- |
1 |
4-95507586-A-G |
c.911A>G |
p.K304R |
Missense |
7/13 |
- |
1 |
4-95507588-A-G |
c.913A>G |
p.K305E |
Missense |
7/13 |
- |
4 |
4-95507589-A-C |
c.914A>C |
p.K305T |
Missense |
7/13 |
- |
1 |
4-95507589-A-G |
c.914A>G |
p.K305R |
Missense |
7/13 |
- |
1 |
4-95507589-A-T |
c.914A>T |
p.K305M |
Missense |
7/13 |
- |
1 |
4-95507590-G-A |
c.915G>A |
p.K305= |
Synonymous |
7/13 |
- |
2 |
4-95507590-G-C |
c.915G>C |
p.K305N |
Missense |
7/13 |
- |
1 |
4-95507590-G-T |
c.915G>T |
p.K305N |
Missense |
7/13 |
- |
1 |
4-95507591-GCA-TGT |
c.916_918delinsTGT |
p.A306C |
Missense |
7/13 |
- |
1 |
4-95507592-C-A |
c.917C>A |
p.A306E |
Missense |
7/13 |
- |
1 |
4-95507592-C-G |
c.917C>G |
p.A306G |
Missense |
7/13 |
- |
1 |
4-95507594-A-G |
c.919A>G |
p.N307D |
Missense |
7/13 |
- |
1 |
4-95507595-A-G |
c.920A>G |
p.N307S |
Missense |
7/13 |
- |
1 |
4-95508108-CTTT-C |
c.920+530_920+532del |
- |
IntronicDeletion |
- |
7/12 |
2 |
4-95508108-CTT-C |
c.920+531_920+532del |
- |
IntronicDeletion |
- |
7/12 |
1 |
4-95508126-TTGTA-T |
c.920+533_920+536del |
- |
IntronicDeletion |
- |
7/12 |
1 |
4-95508128-G-A |
c.920+533G>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508128-G-C |
c.920+533G>C |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508128-G-T |
c.920+533G>T |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508128-TGTA-T |
c.920+533_920+535del |
- |
IntronicDeletion |
- |
7/12 |
1 |
4-95508130-TA-T |
c.920+535del |
- |
IntronicDeletion |
- |
7/12 |
3 |
4-95508146-G-C |
c.920+551G>C |
- |
IntronicSNV |
- |
7/12 |
2 |
4-95508151-C-A |
c.920+556C>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508151-C-T |
c.920+556C>T |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508158-C-A |
c.920+563C>A |
- |
IntronicSNV |
- |
7/12 |
2 |
4-95508158-C-G |
c.920+563C>G |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508158-C-T |
c.920+563C>T |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508159-G-A |
c.920+564G>A |
- |
IntronicSNV |
- |
7/12 |
2 |
4-95508168-C-A |
c.920+573C>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508169-C-T |
c.920+574C>T |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508179-A-G |
c.920+584A>G |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508186-C-T |
c.920+591C>T |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508187-G-A |
c.920+592G>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508193-G-A |
c.920+598G>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508208-C-T |
c.920+613C>T |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508210-G-A |
c.920+615G>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508210-G-T |
c.920+615G>T |
- |
IntronicSNV |
- |
7/12 |
2 |
4-95508213-C-A |
c.920+618C>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508214-G-A |
c.920+619G>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508224-C-T |
c.920+629C>T |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508225-G-A |
c.920+630G>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508226-T-C |
c.920+631T>C |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508230-G-T |
c.920+635G>T |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95508755-C-T |
c.920+1160C>T |
- |
IntronicSNV |
- |
7/12 |
2 |
4-95509645-C-T |
c.920+2050C>T |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95511096-T-C |
c.920+3501T>C |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95512844-T-A |
c.920+5249T>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95514609-A-C |
c.920+7014A>C |
- |
IntronicSNV |
- |
7/12 |
48 |
4-95516516-A-C |
c.920+8921A>C |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95516516-A-G |
c.920+8921A>G |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95521397-G-A |
c.920+13802G>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95526605-A-G |
c.921-12550A>G |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95527759-C-G |
c.921-11396C>G |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95527759-C-T |
c.921-11396C>T |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95529236-C-G |
c.921-9919C>G |
- |
IntronicSNV |
- |
7/12 |
3 |
4-95529430-C-T |
c.921-9725C>T |
- |
IntronicSNV |
- |
7/12 |
6 |
4-95529444-C-A |
c.921-9711C>A |
- |
IntronicSNV |
- |
7/12 |
6 |
4-95529444-C-G |
c.921-9711C>G |
- |
IntronicSNV |
- |
7/12 |
6 |
4-95529534-A-G |
c.921-9621A>G |
- |
IntronicSNV |
- |
7/12 |
2 |
4-95531156-G-A |
c.921-7999G>A |
- |
IntronicSNV |
- |
7/12 |
2 |
4-95531415-G-A |
c.921-7740G>A |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95531417-A-G |
c.921-7738A>G |
- |
IntronicSNV |
- |
7/12 |
13 |
4-95531562-T-C |
c.921-7593T>C |
- |
IntronicSNV |
- |
7/12 |
3 |
4-95531563-G-A |
c.921-7592G>A |
- |
IntronicSNV |
- |
7/12 |
3 |
4-95531563-G-C |
c.921-7592G>C |
- |
IntronicSNV |
- |
7/12 |
3 |
4-95531563-G-T |
c.921-7592G>T |
- |
IntronicSNV |
- |
7/12 |
3 |
4-95531644-A-G |
c.921-7511A>G |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95532453-G-C |
c.921-6702G>C |
- |
IntronicSNV |
- |
7/12 |
2 |
4-95537849-A-G |
c.921-1306A>G |
- |
IntronicSNV |
- |
7/12 |
1 |
4-95539156-A-G |
c.922A>G |
p.N308D |
Missense |
8/13 |
- |
1 |
4-95539157-A-G |
c.923A>G |
p.N308S |
Missense |
8/13 |
- |
1 |
4-95539159-TC-CT |
c.925_926delinsCT |
p.S309L |
Missense |
8/13 |
- |
1 |
4-95539160-C-A |
c.926C>A |
p.S309Y |
Missense |
8/13 |
- |
1 |
4-95539161-T-C |
c.927T>C |
p.S309= |
Synonymous |
8/13 |
- |
1 |
4-95539162-C-G |
c.928C>G |
p.Q310E |
Missense |
8/13 |
- |
1 |
4-95539162-C-T |
c.928C>T |
p.Q310* |
Nonsense |
8/13 |
- |
3 |
4-95539164-G-A |
c.930G>A |
p.Q310= |
Synonymous |
8/13 |
- |
1 |
4-95539165-G-A |
c.931G>A |
p.E311K |
Missense |
8/13 |
- |
3 |
4-95539166-A-G |
c.932A>G |
p.E311G |
Missense |
8/13 |
- |
1 |
4-95539166-A-T |
c.932A>T |
p.E311V |
Missense |
8/13 |
- |
1 |
4-95539168-C-A |
c.934C>A |
p.P312T |
Missense |
8/13 |
- |
1 |
4-95539168-C-G |
c.934C>G |
p.P312A |
Missense |
8/13 |
- |
1 |
4-95539168-C-T |
c.934C>T |
p.P312S |
Missense |
8/13 |
- |
1 |
4-95539169-C-A |
c.935C>A |
p.P312H |
Missense |
8/13 |
- |
1 |
4-95539169-C-T |
c.935C>T |
p.P312L |
Missense |
8/13 |
- |
3 |
4-95539170-T-A |
c.936T>A |
p.P312= |
Synonymous |
8/13 |
- |
1 |
4-95539170-T-C |
c.936T>C |
p.P312= |
Synonymous |
8/13 |
- |
3 |
4-95539170-T-G |
c.936T>G |
p.P312= |
Synonymous |
8/13 |
- |
1 |
4-95539171-T-C |
c.937T>C |
p.S313P |
Missense |
8/13 |
- |
2 |
4-95539171-TC-GG |
c.937_938delinsGG |
p.S313G |
Missense |
8/13 |
- |
1 |
4-95539172-C-G |
c.938C>G |
p.S313C |
Missense |
8/13 |
- |
1 |
4-95539173-T-A |
c.939T>A |
p.S313= |
Synonymous |
8/13 |
- |
1 |
4-95539173-T-C |
c.939T>C |
p.S313= |
Synonymous |
8/13 |
- |
2 |
4-95539173-T-G |
c.939T>G |
p.S313= |
Synonymous |
8/13 |
- |
2 |
4-95539174-C-T |
c.940C>T |
p.P314S |
Missense |
8/13 |
- |
2 |
4-95539175-C-T |
c.941C>T |
p.P314L |
Missense |
8/13 |
- |
5 |
4-95539176-G-A |
c.942G>A |
p.P314= |
Synonymous |
8/13 |
- |
1 |
4-95539177-CA-GC |
c.943_944delinsGC |
p.Q315A |
Missense |
8/13 |
- |
1 |
4-95539178-A-G |
c.944A>G |
p.Q315R |
Missense |
8/13 |
- |
2 |
4-95539180-TT-AG |
c.946_947delinsAG |
p.L316R |
Missense |
8/13 |
- |
1 |
4-95539183-G-C |
c.949G>C |
p.A317P |
Missense |
8/13 |
- |
1 |
4-95539184-CT-AG |
c.950_951inv |
p.A317E |
Missense |
8/13 |
- |
1 |
4-95539185-CTTCCTCGGTAGCTTCCACACGGAGCATGCCCGA-C |
c.951_983del |
p.S319_S329del |
InFrameDeletion |
8/13 |
- |
1 |
4-95539186-TC-AA |
c.952_953delinsAA |
p.S318N |
Missense |
8/13 |
- |
1 |
4-95539187-C-G |
c.953C>G |
p.S318C |
Missense |
8/13 |
- |
1 |
4-95539189-TCG-AAC |
c.955_957delinsAAC |
p.S319N |
Missense |
8/13 |
- |
1 |
4-95539189-TCG-ATC |
c.955_957delinsATC |
p.S319I |
Missense |
8/13 |
- |
1 |
4-95539190-C-T |
c.956C>T |
p.S319L |
Missense |
8/13 |
- |
1 |
4-95539192-G-A |
c.958G>A |
p.V320I |
Missense |
8/13 |
- |
3 |
4-95539192-G-C |
c.958G>C |
p.V320L |
Missense |
8/13 |
- |
2 |
4-95539192-G-T |
c.958G>T |
p.V320L |
Missense |
8/13 |
- |
2 |
4-95539192-GTA-ATG |
c.958_960delinsATG |
p.V320M |
Missense |
8/13 |
- |
3 |
4-95539195-G-A |
c.961G>A |
p.A321T |
Missense |
8/13 |
- |
2 |
4-95539196-C-T |
c.962C>T |
p.A321V |
Missense |
8/13 |
- |
1 |
4-95539198-TC-AA |
c.964_965delinsAA |
p.S322N |
Missense |
8/13 |
- |
1 |
4-95539198-TC-GG |
c.964_965delinsGG |
p.S322G |
Missense |
8/13 |
- |
1 |
4-95539199-C-T |
c.965C>T |
p.S322F |
Missense |
8/13 |
- |
1 |
4-95539200-C-A |
c.966C>A |
p.S322= |
Synonymous |
8/13 |
- |
1 |
4-95539200-C-T |
c.966C>T |
p.S322= |
Synonymous |
8/13 |
- |
1 |
4-95539201-A-G |
c.967A>G |
p.T323A |
Missense |
8/13 |
- |
3 |
4-95539202-C-A |
c.968C>A |
p.T323K |
Missense |
8/13 |
- |
1 |
4-95539202-CA-TG |
c.968_969inv |
p.T323M |
Missense |
8/13 |
- |
1 |
4-95539202-C-T |
c.968C>T |
p.T323I |
Missense |
8/13 |
- |
1 |
4-95539203-A-C |
c.969A>C |
p.T323= |
Synonymous |
8/13 |
- |
3 |
4-95539203-A-G |
c.969A>G |
p.T323= |
Synonymous |
8/13 |
- |
3 |
4-95539203-A-T |
c.969A>T |
p.T323= |
Synonymous |
8/13 |
- |
4 |
4-95539204-CG-GC |
c.970_971delinsGC |
p.R324A |
Missense |
8/13 |
- |
2 |
4-95539205-G-A |
c.971G>A |
p.R324Q |
Missense |
8/13 |
- |
2 |
4-95539206-G-A |
c.972G>A |
p.R324= |
Synonymous |
8/13 |
- |
1 |
4-95539207-AG-TT |
c.973_974delinsTT |
p.S325F |
Missense |
8/13 |
- |
2 |
4-95539208-G-A |
c.974G>A |
p.S325N |
Missense |
8/13 |
- |
1 |
4-95539207-A-C |
c.973A>C |
p.S325R |
Missense |
8/13 |
- |
1 |
4-95539209-C-A |
c.975C>A |
p.S325R |
Missense |
8/13 |
- |
2 |
4-95539209-C-G |
c.975C>G |
p.S325R |
Missense |
8/13 |
- |
1 |
4-95539209-C-T |
c.975C>T |
p.S325= |
Synonymous |
8/13 |
- |
1 |
4-95539213-C-A |
c.979C>A |
p.P327T |
Missense |
8/13 |
- |
1 |
4-95539214-CC-AA |
c.980_981delinsAA |
p.P327Q |
Missense |
8/13 |
- |
1 |
4-95539215-C-T |
c.981C>T |
p.P327= |
Synonymous |
8/13 |
- |
5 |
4-95539216-G-A |
c.982G>A |
p.E328K |
Missense |
8/13 |
- |
5 |
4-95539219-AG-CT |
c.985_986inv |
p.S329L |
Missense |
8/13 |
- |
2 |
4-95539219-AG-GC |
c.985_986delinsGC |
p.S329A |
Missense |
8/13 |
- |
1 |
4-95539219-A-T |
c.985A>T |
p.S329C |
Missense |
8/13 |
- |
1 |
4-95539220-G-A |
c.986G>A |
p.S329N |
Missense |
8/13 |
- |
1 |
4-95539223-T-C |
c.989T>C |
p.L330P |
Missense |
8/13 |
- |
2 |
4-95539226-A-G |
c.992A>G |
p.D331G |
Missense |
8/13 |
- |
1 |
4-95539227-C-T |
c.993C>T |
p.D331= |
Synonymous |
8/13 |
- |
1 |
4-95539228-AG-CT |
c.994_995inv |
p.S332L |
Missense |
8/13 |
- |
1 |
4-95539228-AG-GC |
c.994_995delinsGC |
p.S332A |
Missense |
8/13 |
- |
1 |
4-95539230-C-T |
c.996C>T |
p.S332= |
Synonymous |
8/13 |
- |
2 |
4-95539232-CA-AT |
c.998_999delinsAT |
p.P333H |
Missense |
8/13 |
- |
1 |
4-95539232-C-T |
c.998C>T |
p.P333L |
Missense |
8/13 |
- |
1 |
4-95539234-ACC-CAA |
c.1000_1002delinsCAA |
p.T334Q |
Missense |
8/13 |
- |
1 |
4-95539237-T-C |
c.1003T>C |
p.S335P |
Missense |
8/13 |
- |
1 |
4-95539237-T-G |
c.1003T>G |
p.S335A |
Missense |
8/13 |
- |
3 |
4-95539238-C-A |
c.1004C>A |
p.S335Y |
Missense |
8/13 |
- |
1 |
4-95539239-T-A |
c.1005T>A |
p.S335= |
Synonymous |
8/13 |
- |
1 |
4-95539239-T-C |
c.1005T>C |
p.S335= |
Synonymous |
8/13 |
- |
1 |
4-95539239-T-G |
c.1005T>G |
p.S335= |
Synonymous |
8/13 |
- |
1 |
4-95539240-G-A |
c.1006G>A |
p.G336S |
Missense |
8/13 |
- |
2 |
4-95539240-GGC-TGG |
c.1006_1008delinsTGG |
p.G336W |
Missense |
8/13 |
- |
1 |
4-95539243-AGA-CAT |
c.1009_1011delinsCAT |
p.R337H |
Missense |
8/13 |
- |
2 |
4-95539243-AGA-TGT |
c.1009_1011delinsTGT |
p.R337C |
Missense |
8/13 |
- |
1 |
4-95539243-AG-CT |
c.1009_1010inv |
p.R337L |
Missense |
8/13 |
- |
1 |
4-95539244-G-C |
c.1010G>C |
p.R337T |
Missense |
8/13 |
- |
1 |
4-95539245-A-G |
c.1011A>G |
p.R337= |
Synonymous |
8/13 |
- |
1 |
4-95539245-A-T |
c.1011A>T |
p.R337S |
Missense |
8/13 |
- |
1 |
4-95539246-C-T |
c.1012C>T |
p.P338S |
Missense |
8/13 |
- |
1 |
4-95539247-C-A |
c.1013C>A |
p.P338Q |
Missense |
8/13 |
- |
1 |
4-95539247-C-T |
c.1013C>T |
p.P338L |
Missense |
8/13 |
- |
1 |
4-95539248-A-G |
c.1014A>G |
p.P338= |
Synonymous |
8/13 |
- |
1 |
4-95539248-A-T |
c.1014A>T |
p.P338= |
Synonymous |
8/13 |
- |
1 |
4-95539250-G-A |
c.1016G>A |
p.G339E |
Missense |
8/13 |
- |
1 |
4-95539250-GG-AC |
c.1016_1017delinsAC |
p.G339D |
Missense |
8/13 |
- |
1 |
4-95539252-G-C |
c.1018G>C |
p.V340L |
Missense |
8/13 |
- |
2 |
4-95539252-GTT-ATG |
c.1018_1020delinsATG |
p.V340M |
Missense |
8/13 |
- |
1 |
4-95539255-AC-TG |
c.1021_1022delinsTG |
p.T341C |
Missense |
8/13 |
- |
1 |
4-95539256-CC-TG |
c.1022_1023delinsTG |
p.T341M |
Missense |
8/13 |
- |
1 |
4-95539258-AGC-GAG |
c.1024_1026delinsGAG |
p.S342E |
Missense |
8/13 |
- |
1 |
4-95539259-G-A |
c.1025G>A |
p.S342N |
Missense |
8/13 |
- |
1 |
4-95539261-C-A |
c.1027C>A |
p.L343I |
Missense |
8/13 |
- |
1 |
4-95539261-CTC-ATG |
c.1027_1029delinsATG |
p.L343M |
Missense |
8/13 |
- |
1 |
4-95539264-ACA-TGT |
c.1030_1032inv |
p.T344C |
Missense |
8/13 |
- |
1 |
4-95539264-A-G |
c.1030A>G |
p.T344A |
Missense |
8/13 |
- |
2 |
4-95539262-TCA-T |
c.1031_1032del |
p.T344Sfs*56 |
Frameshift |
8/13 |
- |
1 |
4-95539265-C-T |
c.1031C>T |
p.T344I |
Missense |
8/13 |
- |
1 |
4-95539267-G-A |
c.1033G>A |
p.A345T |
Missense |
8/13 |
- |
33 |
4-95539267-G-C |
c.1033G>C |
p.A345P |
Missense |
8/13 |
- |
33 |
4-95539270-G-A |
c.1036G>A |
p.A346T |
Missense |
8/13 |
- |
1 |
4-95539271-C-T |
c.1037C>T |
p.A346V |
Missense |
8/13 |
- |
1 |
4-95539276-G-A |
c.1042G>A |
p.A348T |
Missense |
8/13 |
- |
2 |
4-95539278-C-G |
c.1044C>G |
p.A348= |
Synonymous |
8/13 |
- |
2 |
4-95539278-C-T |
c.1044C>T |
p.A348= |
Synonymous |
8/13 |
- |
1 |
4-95539279-T-C |
c.1045T>C |
p.F349L |
Missense |
8/13 |
- |
1 |
4-95539281-C-A |
c.1047C>A |
p.F349L |
Missense |
8/13 |
- |
1 |
4-95539281-C-G |
c.1047C>G |
p.F349L |
Missense |
8/13 |
- |
1 |
4-95539280-T-G |
c.1046T>G |
p.F349C |
Missense |
8/13 |
- |
1 |
4-95539282-AA-GC |
c.1048_1049delinsGC |
p.K350A |
Missense |
8/13 |
- |
1 |
4-95539284-G-A |
c.1050G>A |
p.K350= |
Synonymous |
8/13 |
- |
3 |
4-95539284-G-C |
c.1050G>C |
p.K350N |
Missense |
8/13 |
- |
1 |
4-95539284-G-T |
c.1050G>T |
p.K350N |
Missense |
8/13 |
- |
1 |
4-95539285-C-T |
c.1051C>T |
p.P351S |
Missense |
8/13 |
- |
1 |
4-95539287-T-G |
c.1053T>G |
p.P351= |
Synonymous |
8/13 |
- |
1 |
4-95539289-T-C |
c.1055T>C |
p.V352A |
Missense |
8/13 |
- |
1 |
4-95539291-G-A |
c.1057G>A |
p.G353R |
Missense |
8/13 |
- |
1 |
4-95539291-G-C |
c.1057G>C |
p.G353R |
Missense |
8/13 |
- |
1 |
4-95539295-C-T |
c.1061C>T |
p.S354F |
Missense |
8/13 |
- |
2 |
4-95539296-C-A |
c.1062C>A |
p.S354= |
Synonymous |
8/13 |
- |
1 |
4-95539296-C-G |
c.1062C>G |
p.S354= |
Synonymous |
8/13 |
- |
1 |
4-95539296-C-T |
c.1062C>T |
p.S354= |
Synonymous |
8/13 |
- |
3 |
4-95539297-A-T |
c.1063A>T |
p.T355S |
Missense |
8/13 |
- |
2 |
4-95539298-C-G |
c.1064C>G |
p.T355S |
Missense |
8/13 |
- |
2 |
4-95539298-C-T |
c.1064C>T |
p.T355I |
Missense |
8/13 |
- |
2 |
4-95539298-CT-TG |
c.1064_1065delinsTG |
p.T355M |
Missense |
8/13 |
- |
1 |
4-95539298-C-CT |
c.1065dup |
p.G356Wfs*45 |
Frameshift |
8/13 |
- |
2 |
4-95539299-T-A |
c.1065T>A |
p.T355= |
Synonymous |
8/13 |
- |
1 |
4-95539299-T-C |
c.1065T>C |
p.T355= |
Synonymous |
8/13 |
- |
1 |
4-95539299-T-G |
c.1065T>G |
p.T355= |
Synonymous |
8/13 |
- |
1 |
4-95539300-G-A |
c.1066G>A |
p.G356S |
Missense |
8/13 |
- |
1 |
4-95539300-G-T |
c.1066G>T |
p.G356C |
Missense |
8/13 |
- |
1 |
4-95539301-G-A |
c.1067G>A |
p.G356D |
Missense |
8/13 |
- |
1 |
4-95539301-GC-AG |
c.1067_1068delinsAG |
p.G356E |
Missense |
8/13 |
- |
1 |
4-95539303-G-C |
c.1069G>C |
p.V357L |
Missense |
8/13 |
- |
1 |
4-95539303-G-T |
c.1069G>T |
p.V357F |
Missense |
8/13 |
- |
1 |
4-95539304-T-C |
c.1070T>C |
p.V357A |
Missense |
8/13 |
- |
3 |
4-95539305-C-T |
c.1071C>T |
p.V357= |
Synonymous |
8/13 |
- |
1 |
4-95539310-A-T |
c.1076A>T |
p.K359M |
Missense |
8/13 |
- |
1 |
4-95539311-G-C |
c.1077G>C |
p.K359N |
Missense |
8/13 |
- |
1 |
4-95539311-G-T |
c.1077G>T |
p.K359N |
Missense |
8/13 |
- |
1 |
4-95539312-T-G |
c.1078T>G |
p.S360A |
Missense |
8/13 |
- |
1 |
4-95539313-C-T |
c.1079C>T |
p.S360L |
Missense |
8/13 |
- |
1 |
4-95539314-A-C |
c.1080A>C |
p.S360= |
Synonymous |
8/13 |
- |
1 |
4-95539314-A-G |
c.1080A>G |
p.S360= |
Synonymous |
8/13 |
- |
1 |
4-95539314-A-T |
c.1080A>T |
p.S360= |
Synonymous |
8/13 |
- |
1 |
4-95539315-C-T |
c.1081C>T |
p.P361S |
Missense |
8/13 |
- |
1 |
4-95539318-AG-CC |
c.1084_1085delinsCC |
p.S362P |
Missense |
8/13 |
- |
1 |
4-95539318-AG-GA |
c.1084_1085delinsGA |
p.S362D |
Missense |
8/13 |
- |
1 |
4-95539318-AG-GC |
c.1084_1085delinsGC |
p.S362A |
Missense |
8/13 |
- |
1 |
4-95539318-AG-TT |
c.1084_1085delinsTT |
p.S362F |
Missense |
8/13 |
- |
1 |
4-95539319-G-A |
c.1085G>A |
p.S362N |
Missense |
8/13 |
- |
2 |
4-95539320-C-T |
c.1086C>T |
p.S362= |
Synonymous |
8/13 |
- |
1 |
4-95539321-T-A |
c.1087T>A |
p.W363R |
Missense |
8/13 |
- |
2 |
4-95539321-T-C |
c.1087T>C |
p.W363R |
Missense |
8/13 |
- |
2 |
4-95539327-C-G |
c.1093C>G |
p.R365G |
Missense |
8/13 |
- |
1 |
4-95539327-CGG-TGT |
c.1093_1095delinsTGT |
p.R365C |
Missense |
8/13 |
- |
2 |
4-95539327-C-T |
c.1093C>T |
p.R365W |
Missense |
8/13 |
- |
1 |
4-95539328-G-A |
c.1094G>A |
p.R365Q |
Missense |
8/13 |
- |
3 |
4-95539328-G-C |
c.1094G>C |
p.R365P |
Missense |
8/13 |
- |
1 |
4-95539328-G-T |
c.1094G>T |
p.R365L |
Missense |
8/13 |
- |
1 |
4-95539330-C-A |
c.1096C>A |
p.P366T |
Missense |
8/13 |
- |
3 |
4-95539330-C-T |
c.1096C>T |
p.P366S |
Missense |
8/13 |
- |
1 |
4-95539333-AA-GC |
c.1099_1100delinsGC |
p.N367A |
Missense |
8/13 |
- |
1 |
4-95539335-C-T |
c.1101C>T |
p.N367= |
Synonymous |
8/13 |
- |
1 |
4-95539337-A-G |
c.1103A>G |
p.Q368R |
Missense |
8/13 |
- |
2 |
4-95539338-A-C |
c.1104A>C |
p.Q368H |
Missense |
8/13 |
- |
1 |
4-95539338-A-G |
c.1104A>G |
p.Q368= |
Synonymous |
8/13 |
- |
1 |
4-95539342-G-A |
c.1108G>A |
p.V370I |
Missense |
8/13 |
- |
1 |
4-95544285-T-C |
c.1108+4943T>C |
- |
IntronicSNV |
- |
8/12 |
2 |
4-95544718-A-G |
c.1108+5376A>G |
- |
IntronicSNV |
- |
8/12 |
6 |
4-95544718-A-T |
c.1108+5376A>T |
- |
IntronicSNV |
- |
8/12 |
6 |
4-95547412-T-A |
c.1108+8070T>A |
- |
IntronicSNV |
- |
8/12 |
1 |
4-95547412-T-C |
c.1108+8070T>C |
- |
IntronicSNV |
- |
8/12 |
1 |
4-95547467-A-G |
c.1108+8125A>G |
- |
IntronicSNV |
- |
8/12 |
1 |
4-95548550-G-A |
c.1108+9208G>A |
- |
IntronicSNV |
- |
8/12 |
1 |
4-95554249-A-T |
c.1109-7178A>T |
- |
IntronicSNV |
- |
8/12 |
1 |
4-95558854-T-C |
c.1109-2573T>C |
- |
IntronicSNV |
- |
8/12 |
2 |
4-95561279-T-C |
c.1109-148T>C |
- |
IntronicSNV |
- |
8/12 |
1 |
4-95561427-TA-AC |
c.1109_1110delinsAC |
p.V370D |
Missense |
9/13 |
- |
1 |
4-95561427-T-C |
c.1109T>C |
p.V370A |
Missense |
9/13 |
- |
1 |
4-95561430-C-T |
c.1112C>T |
p.P371L |
Missense |
9/13 |
- |
1 |
4-95561432-T-G |
c.1114T>G |
p.S372A |
Missense |
9/13 |
- |
2 |
4-95561433-C-T |
c.1115C>T |
p.S372F |
Missense |
9/13 |
- |
2 |
4-95561434-C-A |
c.1116C>A |
p.S372= |
Synonymous |
9/13 |
- |
2 |
4-95561434-C-G |
c.1116C>G |
p.S372= |
Synonymous |
9/13 |
- |
2 |
4-95561434-C-T |
c.1116C>T |
p.S372= |
Synonymous |
9/13 |
- |
2 |
4-95561436-C-A |
c.1118C>A |
p.T373N |
Missense |
9/13 |
- |
1 |
4-95561438-G-A |
c.1120G>A |
p.G374R |
Missense |
9/13 |
- |
6 |
4-95561438-GGA-AGC |
c.1120_1122delinsAGC |
p.G374S |
Missense |
9/13 |
- |
1 |
4-95561439-G-A |
c.1121G>A |
p.G374E |
Missense |
9/13 |
- |
1 |
4-95561441-AGA-CAT |
c.1123_1125delinsCAT |
p.R375H |
Missense |
9/13 |
- |
1 |
4-95561441-AGA-TGT |
c.1123_1125delinsTGT |
p.R375C |
Missense |
9/13 |
- |
2 |
4-95561442-G-A |
c.1124G>A |
p.R375K |
Missense |
9/13 |
- |
1 |
4-95561441-A-C |
c.1123A>C |
p.R375= |
Synonymous |
9/13 |
- |
1 |
4-95561443-A-G |
c.1125A>G |
p.R375= |
Synonymous |
9/13 |
- |
1 |
4-95561447-TC-GG |
c.1129_1130delinsGG |
p.S377G |
Missense |
9/13 |
- |
1 |
4-95561448-C-A |
c.1130C>A |
p.S377* |
Nonsense |
9/13 |
- |
1 |
4-95561448-CA-TT |
c.1130_1131delinsTT |
p.S377F |
Missense |
9/13 |
- |
1 |
4-95561451-A-G |
c.1133A>G |
p.N378S |
Missense |
9/13 |
- |
1 |
4-95561453-AG-CC |
c.1135_1136delinsCC |
p.S379P |
Missense |
9/13 |
- |
1 |
4-95561453-AGC-TGA |
c.1135_1137delinsTGA |
p.S379* |
Nonsense |
9/13 |
- |
1 |
4-95561453-A-T |
c.1135A>T |
p.S379C |
Missense |
9/13 |
- |
1 |
4-95561454-G-A |
c.1136G>A |
p.S379N |
Missense |
9/13 |
- |
1 |
4-95561455-C-T |
c.1137C>T |
p.S379= |
Synonymous |
9/13 |
- |
1 |
4-95561457-C-T |
c.1139C>T |
p.A380V |
Missense |
9/13 |
- |
1 |
4-95561459-A-G |
c.1141A>G |
p.T381A |
Missense |
9/13 |
- |
37 |
4-95561460-CT-TG |
c.1142_1143delinsTG |
p.T381M |
Missense |
9/13 |
- |
1 |
4-95561461-T-A |
c.1143T>A |
p.T381= |
Synonymous |
9/13 |
- |
2 |
4-95561461-T-C |
c.1143T>C |
p.T381= |
Synonymous |
9/13 |
- |
3 |
4-95561461-T-G |
c.1143T>G |
p.T381= |
Synonymous |
9/13 |
- |
2 |
4-95561463-A-T |
c.1145A>T |
p.Y382F |
Missense |
9/13 |
- |
1 |
4-95561465-TCA-AAC |
c.1147_1149delinsAAC |
p.S383N |
Missense |
9/13 |
- |
24 |
4-95561468-GGA-AGC |
c.1150_1152delinsAGC |
p.G384S |
Missense |
9/13 |
- |
1 |
4-95561468-GG-AC |
c.1150_1151delinsAC |
p.G384T |
Missense |
9/13 |
- |
1 |
4-95561468-GG-CT |
c.1150_1151delinsCT |
p.G384L |
Missense |
9/13 |
- |
1 |
4-95561469-G-A |
c.1151G>A |
p.G384E |
Missense |
9/13 |
- |
1 |
4-95561469-GA-AC |
c.1151_1152delinsAC |
p.G384D |
Missense |
9/13 |
- |
1 |
4-95561472-CA-GT |
c.1154_1155delinsGT |
p.S385C |
Missense |
9/13 |
- |
1 |
4-95561474-G-A |
c.1156G>A |
p.V386M |
Missense |
9/13 |
- |
1 |
4-95561475-T-C |
c.1157T>C |
p.V386A |
Missense |
9/13 |
- |
4 |
4-95561476-G-A |
c.1158G>A |
p.V386= |
Synonymous |
9/13 |
- |
2 |
4-95561476-G-C |
c.1158G>C |
p.V386= |
Synonymous |
9/13 |
- |
1 |
4-95561476-G-T |
c.1158G>T |
p.V386= |
Synonymous |
9/13 |
- |
1 |
4-95561477-G-A |
c.1159G>A |
p.A387T |
Missense |
9/13 |
- |
2 |
4-95561480-C-T |
c.1162C>T |
p.P388S |
Missense |
9/13 |
- |
5 |
4-95561481-C-T |
c.1163C>T |
p.P388L |
Missense |
9/13 |
- |
2 |
4-95561483-G-C |
c.1165G>C |
p.A389P |
Missense |
9/13 |
- |
2 |
4-95561485-C-A |
c.1167C>A |
p.A389= |
Synonymous |
9/13 |
- |
1 |
4-95561485-C-G |
c.1167C>G |
p.A389= |
Synonymous |
9/13 |
- |
1 |
4-95561485-C-T |
c.1167C>T |
p.A389= |
Synonymous |
9/13 |
- |
1 |
4-95561488-C-T |
c.1170C>T |
p.N390= |
Synonymous |
9/13 |
- |
1 |
4-95561490-C-A |
c.1172C>A |
p.S391* |
Nonsense |
9/13 |
- |
1 |
4-95561490-C-G |
c.1172C>G |
p.S391* |
Nonsense |
9/13 |
- |
1 |
4-95561491-A-C |
c.1173A>C |
p.S391= |
Synonymous |
9/13 |
- |
1 |
4-95561491-A-G |
c.1173A>G |
p.S391= |
Synonymous |
9/13 |
- |
1 |
4-95561491-A-T |
c.1173A>T |
p.S391= |
Synonymous |
9/13 |
- |
1 |
4-95561492-G-A |
c.1174G>A |
p.A392T |
Missense |
9/13 |
- |
1 |
4-95561492-G-C |
c.1174G>C |
p.A392P |
Missense |
9/13 |
- |
1 |
4-95561492-G-T |
c.1174G>T |
p.A392S |
Missense |
9/13 |
- |
1 |
4-95561493-C-G |
c.1175C>G |
p.A392G |
Missense |
9/13 |
- |
2 |
4-95561493-C-T |
c.1175C>T |
p.A392V |
Missense |
9/13 |
- |
1 |
4-95561494-T-A |
c.1176T>A |
p.A392= |
Synonymous |
9/13 |
- |
1 |
4-95561494-T-C |
c.1176T>C |
p.A392= |
Synonymous |
9/13 |
- |
1 |
4-95561494-T-G |
c.1176T>G |
p.A392= |
Synonymous |
9/13 |
- |
1 |
4-95561495-T-A |
c.1177T>A |
p.L393M |
Missense |
9/13 |
- |
1 |
4-95561495-TTG-ATC |
c.1177_1179delinsATC |
p.L393I |
Missense |
9/13 |
- |
1 |
4-95561499-G-C |
c.1181G>C |
p.G394A |
Missense |
9/13 |
- |
1 |
4-95561502-A-G |
c.1184A>G |
p.Q395R |
Missense |
9/13 |
- |
1 |
4-95561503-A-G |
c.1185A>G |
p.Q395= |
Synonymous |
9/13 |
- |
1 |
4-95561504-A-C |
c.1186A>C |
p.T396P |
Missense |
9/13 |
- |
2 |
4-95561504-A-G |
c.1186A>G |
p.T396A |
Missense |
9/13 |
- |
2 |
4-95561507-C-T |
c.1189C>T |
p.Q397* |
Nonsense |
9/13 |
- |
1 |
4-95561508-A-G |
c.1190A>G |
p.Q397R |
Missense |
9/13 |
- |
1 |
4-95561510-C-G |
c.1192C>G |
p.P398A |
Missense |
9/13 |
- |
1 |
4-95561510-C-T |
c.1192C>T |
p.P398S |
Missense |
9/13 |
- |
1 |
4-95561513-A-C |
c.1195A>C |
p.S399R |
Missense |
9/13 |
- |
2 |
4-95561515-T-A |
c.1197T>A |
p.S399R |
Missense |
9/13 |
- |
2 |
4-95561515-T-G |
c.1197T>G |
p.S399R |
Missense |
9/13 |
- |
2 |
4-95561516-G-A |
c.1198G>A |
p.D400N |
Missense |
9/13 |
- |
3 |
4-95561517-A-C |
c.1199A>C |
p.D400A |
Missense |
9/13 |
- |
1 |
4-95561518-C-T |
c.1200C>T |
p.D400= |
Synonymous |
9/13 |
- |
1 |
4-95561519-C-T |
c.1201C>T |
p.Q401* |
Nonsense |
9/13 |
- |
1 |
4-95561522-G-A |
c.1204G>A |
p.D402N |
Missense |
9/13 |
- |
2 |
4-95561522-G-C |
c.1204G>C |
p.D402H |
Missense |
9/13 |
- |
1 |
4-95561524-C-T |
c.1206C>T |
p.D402= |
Synonymous |
9/13 |
- |
1 |
4-95561526-CT-AG |
c.1208_1209inv |
p.T403K |
Missense |
9/13 |
- |
1 |
4-95561528-TTA-ATG |
c.1210_1212delinsATG |
p.L404M |
Missense |
9/13 |
- |
1 |
4-95561531-GTG-ATC |
c.1213_1215delinsATC |
p.V405I |
Missense |
9/13 |
- |
2 |
4-95561532-T-C |
c.1214T>C |
p.V405A |
Missense |
9/13 |
- |
1 |
4-95561535-A-G |
c.1217A>G |
p.Q406R |
Missense |
9/13 |
- |
1 |
4-95561537-AGA-TGT |
c.1219_1221delinsTGT |
p.R407C |
Missense |
9/13 |
- |
1 |
4-95561537-AG-CT |
c.1219_1220inv |
p.R407L |
Missense |
9/13 |
- |
1 |
4-95561537-AG-GC |
c.1219_1220delinsGC |
p.R407A |
Missense |
9/13 |
- |
1 |
4-95561538-G-A |
c.1220G>A |
p.R407K |
Missense |
9/13 |
- |
3 |
4-95561540-G-A |
c.1222G>A |
p.A408T |
Missense |
9/13 |
- |
1 |
4-95561540-G-T |
c.1222G>T |
p.A408S |
Missense |
9/13 |
- |
1 |
4-95561541-C-T |
c.1223C>T |
p.A408V |
Missense |
9/13 |
- |
1 |
4-95561543-G-A |
c.1225G>A |
p.E409K |
Missense |
9/13 |
- |
1 |
4-95561546-C-T |
c.1228C>T |
p.H410Y |
Missense |
9/13 |
- |
3 |
4-95561548-C-A |
c.1230C>A |
p.H410Q |
Missense |
9/13 |
- |
1 |
4-95561548-C-G |
c.1230C>G |
p.H410Q |
Missense |
9/13 |
- |
1 |
4-95561549-A-C |
c.1231A>C |
p.I411L |
Missense |
9/13 |
- |
1 |
4-95561552-C-A |
c.1234C>A |
p.P412T |
Missense |
9/13 |
- |
1 |
4-95561552-C-T |
c.1234C>T |
p.P412S |
Missense |
9/13 |
- |
2 |
4-95561553-C-T |
c.1235C>T |
p.P412L |
Missense |
9/13 |
- |
1 |
4-95561554-A-C |
c.1236A>C |
p.P412= |
Synonymous |
9/13 |
- |
1 |
4-95561554-A-G |
c.1236A>G |
p.P412= |
Synonymous |
9/13 |
- |
1 |
4-95561554-A-T |
c.1236A>T |
p.P412= |
Synonymous |
9/13 |
- |
1 |
4-95561558-GG-AA |
c.1240_1241delinsAA |
p.G414K |
Missense |
9/13 |
- |
1 |
4-95561558-G-T |
c.1240G>T |
p.G414W |
Missense |
9/13 |
- |
1 |
4-95561563-A-G |
c.1245A>G |
p.K415= |
Synonymous |
9/13 |
- |
1 |
4-95561563-A-T |
c.1245A>T |
p.K415N |
Missense |
9/13 |
- |
1 |
4-95561564-C-G |
c.1246C>G |
p.R416G |
Missense |
9/13 |
- |
2 |
4-95561564-CGA-AGC |
c.1246_1248delinsAGC |
p.R416S |
Missense |
9/13 |
- |
1 |
4-95561565-G-A |
c.1247G>A |
p.R416Q |
Missense |
9/13 |
- |
7 |
4-95561565-GA-AT |
c.1247_1248delinsAT |
p.R416H |
Missense |
9/13 |
- |
2 |
4-95561567-A-AG |
c.1249_1250insG |
p.T417Sfs*8 |
Frameshift |
9/13 |
- |
1 |
4-95561567-A-C |
c.1249A>C |
p.T417P |
Missense |
9/13 |
- |
1 |
4-95561567-A-G |
c.1249A>G |
p.T417A |
Missense |
9/13 |
- |
1 |
4-95561568-C-T |
c.1250C>T |
p.T417I |
Missense |
9/13 |
- |
2 |
4-95561569-T-A |
c.1251T>A |
p.T417= |
Synonymous |
9/13 |
- |
1 |
4-95561569-T-C |
c.1251T>C |
p.T417= |
Synonymous |
9/13 |
- |
2 |
4-95561569-T-G |
c.1251T>G |
p.T417= |
Synonymous |
9/13 |
- |
1 |
4-95561570-C-A |
c.1252C>A |
p.P418T |
Missense |
9/13 |
- |
1 |
4-95561570-C-CG |
c.1252_1253insG |
p.P418Rfs*7 |
Frameshift |
9/13 |
- |
1 |
4-95561570-C-T |
c.1252C>T |
p.P418S |
Missense |
9/13 |
- |
1 |
4-95561571-CG-AT |
c.1253_1254delinsAT |
p.P418H |
Missense |
9/13 |
- |
1 |
4-95561571-C-T |
c.1253C>T |
p.P418L |
Missense |
9/13 |
- |
2 |
4-95561573-A-G |
c.1255A>G |
p.M419V |
Missense |
9/13 |
- |
1 |
4-95561576-GT-G |
c.1258del |
p.C420Afs*13 |
Frameshift |
9/13 |
- |
1 |
4-95561577-G-C |
c.1259G>C |
p.C420S |
Missense |
9/13 |
- |
1 |
4-95561578-C-T |
c.1260C>T |
p.C420= |
Synonymous |
9/13 |
- |
2 |
4-95561579-G-C |
c.1261G>C |
p.A421P |
Missense |
9/13 |
- |
1 |
4-95561580-C-A |
c.1262C>A |
p.A421D |
Missense |
9/13 |
- |
1 |
4-95561583-A-G |
c.1265A>G |
p.H422R |
Missense |
9/13 |
- |
1 |
4-95561584-T-C |
c.1266T>C |
p.H422= |
Synonymous |
9/13 |
- |
1 |
4-95561590-C-A |
c.1272C>A |
p.N424K |
Missense |
9/13 |
- |
3 |
4-95561590-C-G |
c.1272C>G |
p.N424K |
Missense |
9/13 |
- |
2 |
4-95561593-G-A |
c.1275G>A |
p.Q425= |
Synonymous |
9/13 |
- |
1 |
4-95561594-G-A |
c.1276G>A |
p.V426I |
Missense |
9/13 |
- |
1 |
4-95561594-G-T |
c.1276G>T |
p.V426F |
Missense |
9/13 |
- |
1 |
4-95561596-C-T |
c.1278C>T |
p.V426= |
Synonymous |
9/13 |
- |
4 |
4-95561597-A-G |
c.1279A>G |
p.I427V |
Missense |
9/13 |
- |
1 |
4-95561599-C-G |
c.1281C>G |
p.I427M |
Missense |
9/13 |
- |
1 |
4-95561600-A-G |
c.1282A>G |
p.R428G |
Missense |
9/13 |
- |
1 |
4-95561600-A-AG |
c.1283+1dup |
- |
SpliceDonorInsertion |
- |
9/12 |
1 |
4-95561652-T-G |
c.1283+51T>G |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95561653-T-G |
c.1283+52T>G |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95561651-GTTT-G |
c.1283+64_1283+66del |
- |
IntronicDeletion |
- |
9/12 |
1 |
4-95561651-GTT-G |
c.1283+65_1283+66del |
- |
IntronicDeletion |
- |
9/12 |
1 |
4-95561651-GT-G |
c.1283+66del |
- |
IntronicDeletion |
- |
9/12 |
1 |
4-95561748-G-A |
c.1283+147G>A |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95562013-G-A |
c.1283+412G>A |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95562204-C-G |
c.1283+603C>G |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95562393-T-C |
c.1283+792T>C |
- |
IntronicSNV |
- |
9/12 |
3 |
4-95562877-C-T |
c.1283+1276C>T |
- |
IntronicSNV |
- |
9/12 |
68 |
4-95564225-T-A |
c.1283+2624T>A |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95568956-A-C |
c.1284-6655A>C |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95569216-A-T |
c.1284-6395A>T |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95570165-T-C |
c.1284-5446T>C |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95571976-G-C |
c.1284-3635G>C |
- |
IntronicSNV |
- |
9/12 |
2 |
4-95573998-T-C |
c.1284-1613T>C |
- |
IntronicSNV |
- |
9/12 |
2 |
4-95574123-G-A |
c.1284-1488G>A |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95574211-C-T |
c.1284-1400C>T |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95574708-C-CT |
c.1284-901dup |
- |
IntronicInsertion |
- |
9/12 |
1 |
4-95575114-T-G |
c.1284-497T>G |
- |
IntronicSNV |
- |
9/12 |
1 |
4-95575601-C-T |
c.1284-10C>T |
- |
IntronicSNV |
- |
9/12 |
8 |
4-95561600-A-C |
c.1282A>C |
p.R428= |
Synonymous |
9/13 |
- |
1 |
4-95575611-A-G |
c.1284A>G |
p.R428= |
Synonymous |
10/13 |
- |
2 |
4-95575612-GGA-AAC |
c.1285_1287delinsAAC |
p.G429N |
Missense |
10/13 |
- |
2 |
4-95575612-GGA-AGC |
c.1285_1287delinsAGC |
p.G429S |
Missense |
10/13 |
- |
1 |
4-95575611-A-AG |
c.1286dup |
p.P430Tfs*39 |
SpliceAcceptorInsertion |
10/13 |
- |
1 |
4-95575613-GA-AC |
c.1286_1287delinsAC |
p.G429D |
Missense |
10/13 |
- |
1 |
4-95575615-C-T |
c.1288C>T |
p.P430S |
Missense |
10/13 |
- |
2 |
4-95575616-C-G |
c.1289C>G |
p.P430R |
Missense |
10/13 |
- |
2 |
4-95575621-T-C |
c.1294T>C |
p.L432= |
Synonymous |
10/13 |
- |
1 |
4-95575623-A-G |
c.1296A>G |
p.L432= |
Synonymous |
10/13 |
- |
1 |
4-95575624-GTG-ATC |
c.1297_1299delinsATC |
p.V433I |
Missense |
10/13 |
- |
1 |
4-95575626-G-A |
c.1299G>A |
p.V433= |
Synonymous |
10/13 |
- |
1 |
4-95575626-G-C |
c.1299G>C |
p.V433= |
Synonymous |
10/13 |
- |
1 |
4-95575626-G-T |
c.1299G>T |
p.V433= |
Synonymous |
10/13 |
- |
1 |
4-95575627-G-A |
c.1300G>A |
p.A434T |
Missense |
10/13 |
- |
2 |
4-95575627-G-C |
c.1300G>C |
p.A434P |
Missense |
10/13 |
- |
1 |
4-95575631-T-G |
c.1304T>G |
p.L435R |
Missense |
10/13 |
- |
2 |
4-95575633-G-A |
c.1306G>A |
p.G436R |
Missense |
10/13 |
- |
3 |
4-95575633-G-C |
c.1306G>C |
p.G436R |
Missense |
10/13 |
- |
2 |
4-95575634-G-C |
c.1307G>C |
p.G436A |
Missense |
10/13 |
- |
1 |
4-95575639-TC-AA |
c.1312_1313delinsAA |
p.S438N |
Missense |
10/13 |
- |
1 |
4-95575641-T-A |
c.1314T>A |
p.S438= |
Synonymous |
10/13 |
- |
1 |
4-95575641-T-C |
c.1314T>C |
p.S438= |
Synonymous |
10/13 |
- |
1 |
4-95575641-T-G |
c.1314T>G |
p.S438= |
Synonymous |
10/13 |
- |
1 |
4-95575642-T-A |
c.1315T>A |
p.W439R |
Missense |
10/13 |
- |
1 |
4-95575642-T-C |
c.1315T>C |
p.W439R |
Missense |
10/13 |
- |
2 |
4-95575643-G-A |
c.1316G>A |
p.W439* |
Nonsense |
10/13 |
- |
1 |
4-95575643-G-C |
c.1316G>C |
p.W439S |
Missense |
10/13 |
- |
1 |
4-95575648-C-G |
c.1321C>G |
p.P441A |
Missense |
10/13 |
- |
1 |
4-95575648-C-T |
c.1321C>T |
p.P441S |
Missense |
10/13 |
- |
1 |
4-95575649-CA-AT |
c.1322_1323delinsAT |
p.P441H |
Missense |
10/13 |
- |
1 |
4-95575649-C-T |
c.1322C>T |
p.P441L |
Missense |
10/13 |
- |
3 |
4-95575654-G-A |
c.1327G>A |
p.E443K |
Missense |
10/13 |
- |
1 |
4-95575654-G-T |
c.1327G>T |
p.E443* |
Nonsense |
10/13 |
- |
2 |
4-95575655-A-G |
c.1328A>G |
p.E443G |
Missense |
10/13 |
- |
1 |
4-95575659-C-A |
c.1332C>A |
p.F444L |
Missense |
10/13 |
- |
1 |
4-95575659-C-T |
c.1332C>T |
p.F444= |
Synonymous |
10/13 |
- |
2 |
4-95575660-A-C |
c.1333A>C |
p.N445H |
Missense |
10/13 |
- |
1 |
4-95575662-C-A |
c.1335C>A |
p.N445K |
Missense |
10/13 |
- |
1 |
4-95575662-C-G |
c.1335C>G |
p.N445K |
Missense |
10/13 |
- |
1 |
4-95575662-C-T |
c.1335C>T |
p.N445= |
Synonymous |
10/13 |
- |
1 |
4-95575663-TG-AC |
c.1336_1337delinsAC |
p.C446T |
Missense |
10/13 |
- |
1 |
4-95575665-C-T |
c.1338C>T |
p.C446= |
Synonymous |
10/13 |
- |
1 |
4-95575666-G-A |
c.1339G>A |
p.A447T |
Missense |
10/13 |
- |
2 |
4-95575666-G-C |
c.1339G>C |
p.A447P |
Missense |
10/13 |
- |
1 |
4-95575667-C-A |
c.1340C>A |
p.A447D |
Missense |
10/13 |
- |
1 |
4-95575670-A-G |
c.1343A>G |
p.H448R |
Missense |
10/13 |
- |
1 |
4-95575672-T-A |
c.1345T>A |
p.C449S |
Missense |
10/13 |
- |
1 |
4-95575673-G-C |
c.1346G>C |
p.C449S |
Missense |
10/13 |
- |
1 |
4-95575673-G-A |
c.1346G>A |
p.C449Y |
Missense |
10/13 |
- |
4 |
4-95575675-A-G |
c.1348A>G |
p.K450E |
Missense |
10/13 |
- |
1 |
4-95575677-A-C |
c.1350A>C |
p.K450N |
Missense |
10/13 |
- |
3 |
4-95575677-A-G |
c.1350A>G |
p.K450= |
Synonymous |
10/13 |
- |
1 |
4-95575677-A-T |
c.1350A>T |
p.K450N |
Missense |
10/13 |
- |
3 |
4-95575678-A-C |
c.1351A>C |
p.N451H |
Missense |
10/13 |
- |
1 |
4-95575678-A-G |
c.1351A>G |
p.N451D |
Missense |
10/13 |
- |
1 |
4-95575681-A-T |
c.1354A>T |
p.T452S |
Missense |
10/13 |
- |
1 |
4-95575687-G-A |
c.1360G>A |
p.A454T |
Missense |
10/13 |
- |
2 |
4-95575687-G-T |
c.1360G>T |
p.A454S |
Missense |
10/13 |
- |
1 |
4-95575688-C-A |
c.1361C>A |
p.A454D |
Missense |
10/13 |
- |
1 |
4-95575688-C-T |
c.1361C>T |
p.A454V |
Missense |
10/13 |
- |
2 |
4-95575693-A-C |
c.1366A>C |
p.I456L |
Missense |
10/13 |
- |
1 |
4-95575693-A-G |
c.1366A>G |
p.I456V |
Missense |
10/13 |
- |
1 |
4-95575694-T-C |
c.1367T>C |
p.I456T |
Missense |
10/13 |
- |
1 |
4-95575695-T-C |
c.1368T>C |
p.I456= |
Synonymous |
10/13 |
- |
1 |
4-95575695-T-G |
c.1368T>G |
p.I456M |
Missense |
10/13 |
- |
1 |
4-95575697-G-C |
c.1370G>C |
p.G457A |
Missense |
10/13 |
- |
2 |
4-95575697-G-T |
c.1370G>T |
p.G457V |
Missense |
10/13 |
- |
1 |
4-95575698-GATTTGTAGAGGAGAAAGGAGCCCTGTATTGTGAGCTGTGCTA-G |
c.1371_1412del |
p.F458_Y471del |
InFrameDeletion |
10/13 |
- |
1 |
4-95575701-T-A |
c.1374T>A |
p.F458L |
Missense |
10/13 |
- |
1 |
4-95575701-T-C |
c.1374T>C |
p.F458= |
Synonymous |
10/13 |
- |
1 |
4-95575705-G-A |
c.1378G>A |
p.E460K |
Missense |
10/13 |
- |
1 |
4-95575706-A-G |
c.1379A>G |
p.E460G |
Missense |
10/13 |
- |
1 |
4-95575707-G-A |
c.1380G>A |
p.E460= |
Synonymous |
10/13 |
- |
1 |
4-95575707-G-C |
c.1380G>C |
p.E460D |
Missense |
10/13 |
- |
1 |
4-95575707-G-T |
c.1380G>T |
p.E460D |
Missense |
10/13 |
- |
2 |
4-95575708-G-A |
c.1381G>A |
p.E461K |
Missense |
10/13 |
- |
1 |
4-95575710-G-C |
c.1383G>C |
p.E461D |
Missense |
10/13 |
- |
1 |
4-95575710-G-T |
c.1383G>T |
p.E461D |
Missense |
10/13 |
- |
1 |
4-95575712-AA-TG |
c.1385_1386delinsTG |
p.K462M |
Missense |
10/13 |
- |
1 |
4-95575713-A-G |
c.1386A>G |
p.K462= |
Synonymous |
10/13 |
- |
1 |
4-95575714-GGA-TGT |
c.1387_1389delinsTGT |
p.G463C |
Missense |
10/13 |
- |
1 |
4-95575715-G-A |
c.1388G>A |
p.G463E |
Missense |
10/13 |
- |
1 |
4-95575715-G-C |
c.1388G>C |
p.G463A |
Missense |
10/13 |
- |
1 |
4-95575717-G-A |
c.1390G>A |
p.A464T |
Missense |
10/13 |
- |
1 |
4-95575718-C-G |
c.1391C>G |
p.A464G |
Missense |
10/13 |
- |
1 |
4-95575720-C-G |
c.1393C>G |
p.L465V |
Missense |
10/13 |
- |
1 |
4-95575720-C-T |
c.1393C>T |
p.L465= |
Synonymous |
10/13 |
- |
1 |
4-95575722-G-A |
c.1395G>A |
p.L465= |
Synonymous |
10/13 |
- |
1 |
4-95575722-G-C |
c.1395G>C |
p.L465= |
Synonymous |
10/13 |
- |
2 |
4-95575722-G-T |
c.1395G>T |
p.L465= |
Synonymous |
10/13 |
- |
1 |
4-95575722-TGTATTG-T |
c.1395_1400del |
p.Y466_C467del |
InFrameDeletion |
10/13 |
- |
1 |
4-95575722-TGTATTGTGAGCTGTGCTA-T |
c.1395_1412del |
p.Y466_Y471del |
InFrameDeletion |
10/13 |
- |
1 |
4-95575726-TG-AC |
c.1399_1400delinsAC |
p.C467T |
Missense |
10/13 |
- |
1 |
4-95575726-TG-GC |
c.1399_1400delinsGC |
p.C467A |
Missense |
10/13 |
- |
1 |
4-95575729-G-T |
c.1402G>T |
p.E468* |
Nonsense |
10/13 |
- |
1 |
4-95575732-C-CG |
c.1405_1406insG |
p.L469Rfs*4 |
Frameshift |
10/13 |
- |
1 |
4-95575732-C-T |
c.1405C>T |
p.L469= |
Synonymous |
10/13 |
- |
1 |
4-95575732-CTG-TTT |
c.1405_1407delinsTTT |
p.L469F |
Missense |
10/13 |
- |
1 |
4-95575734-TGTGCTA-T |
c.1407_1412del |
p.C470_Y471del |
InFrameDeletion |
10/13 |
- |
1 |
4-95575735-T-C |
c.1408T>C |
p.C470R |
Missense |
10/13 |
- |
1 |
4-95575735-T-G |
c.1408T>G |
p.C470G |
Missense |
10/13 |
- |
1 |
4-95575735-TG-AC |
c.1408_1409delinsAC |
p.C470T |
Missense |
10/13 |
- |
1 |
4-95575735-TG-GC |
c.1408_1409delinsGC |
p.C470A |
Missense |
10/13 |
- |
1 |
4-95575735-T-TG |
c.1409dup |
p.C470Wfs*3 |
Frameshift |
10/13 |
- |
1 |
4-95575736-G-T |
c.1409G>T |
p.C470F |
Missense |
10/13 |
- |
1 |
4-95575738-T-A |
c.1411T>A |
p.Y471N |
Missense |
10/13 |
- |
1 |
4-95575738-T-C |
c.1411T>C |
p.Y471H |
Missense |
10/13 |
- |
1 |
4-95575739-A-G |
c.1412A>G |
p.Y471C |
Missense |
10/13 |
- |
1 |
4-95575739-A-AT |
c.1413dup |
p.E472* |
Nonsense |
10/13 |
- |
1 |
4-95575741-G-A |
c.1414G>A |
p.E472K |
Missense |
10/13 |
- |
2 |
4-95575741-G-T |
c.1414G>T |
p.E472* |
Nonsense |
10/13 |
- |
1 |
4-95575747-T-C |
c.1420T>C |
p.F474L |
Missense |
10/13 |
- |
1 |
4-95575749-C-A |
c.1422C>A |
p.F474L |
Missense |
10/13 |
- |
1 |
4-95575749-C-G |
c.1422C>G |
p.F474L |
Missense |
10/13 |
- |
1 |
4-95575750-T-C |
c.1423T>C |
p.F475L |
Missense |
10/13 |
- |
1 |
4-95575752-T-A |
c.1425T>A |
p.F475L |
Missense |
10/13 |
- |
1 |
4-95575752-T-G |
c.1425T>G |
p.F475L |
Missense |
10/13 |
- |
1 |
4-95575753-G-A |
c.1426G>A |
p.A476T |
Missense |
10/13 |
- |
3 |
4-95575753-G-C |
c.1426G>C |
p.A476P |
Missense |
10/13 |
- |
1 |
4-95575753-G-T |
c.1426G>T |
p.A476S |
Missense |
10/13 |
- |
1 |
4-95575754-C-G |
c.1427C>G |
p.A476G |
Missense |
10/13 |
- |
1 |
4-95575754-C-T |
c.1427C>T |
p.A476V |
Missense |
10/13 |
- |
1 |
4-95575755-C-A |
c.1428C>A |
p.A476= |
Synonymous |
10/13 |
- |
2 |
4-95575755-C-G |
c.1428C>G |
p.A476= |
Synonymous |
10/13 |
- |
1 |
4-95575755-C-T |
c.1428C>T |
p.A476= |
Synonymous |
10/13 |
- |
1 |
4-95575757-C-T |
c.1430C>T |
p.P477L |
Missense |
10/13 |
- |
1 |
4-95575760-A-C |
c.1433A>C |
p.E478A |
Missense |
10/13 |
- |
1 |
4-95575762-T-C |
c.1435T>C |
p.C479R |
Missense |
10/13 |
- |
1 |
4-95575763-G-T |
c.1436G>T |
p.C479F |
Missense |
10/13 |
- |
1 |
4-95575764-T-C |
c.1437T>C |
p.C479= |
Synonymous |
10/13 |
- |
1 |
4-95575768-C-T |
c.1441C>T |
p.R481* |
Nonsense |
10/13 |
- |
1 |
4-95575769-G-A |
c.1442G>A |
p.R481Q |
Missense |
10/13 |
- |
1 |
4-95575769-G-C |
c.1442G>C |
p.R481P |
Missense |
10/13 |
- |
1 |
4-95575775-A-G |
c.1448A>G |
p.Q483R |
Missense |
10/13 |
- |
1 |
4-95575777-AGG-CAT |
c.1450_1452delinsCAT |
p.R484H |
Missense |
10/13 |
- |
1 |
4-95575777-AG-TA |
c.1450_1451delinsTA |
p.R484* |
Nonsense |
10/13 |
- |
1 |
4-95575777-A-T |
c.1450A>T |
p.R484W |
Missense |
10/13 |
- |
1 |
4-95575779-G-A |
c.1452G>A |
p.R484= |
Synonymous |
10/13 |
- |
1 |
4-95575783-A-C |
c.1456A>C |
p.I486L |
Missense |
10/13 |
- |
1 |
4-95575786-C-T |
c.1459C>T |
p.L487F |
Missense |
10/13 |
- |
2 |
4-95575789-GGA-AGC |
c.1462_1464delinsAGC |
p.G488S |
Missense |
10/13 |
- |
1 |
4-95575790-G-C |
c.1463G>C |
p.G488A |
Missense |
10/13 |
- |
1 |
4-95575791-A-G |
c.1464A>G |
p.G488= |
Synonymous |
10/13 |
- |
1 |
4-95577290-T-C |
c.1465-1288T>C |
- |
IntronicSNV |
- |
10/12 |
2 |
4-95577397-G-T |
c.1465-1181G>T |
- |
IntronicSNV |
- |
10/12 |
1 |
4-95578217-G-T |
c.1465-361G>T |
- |
IntronicSNV |
- |
10/12 |
1 |
4-95578581-G-A |
c.1468G>A |
p.V490I |
Missense |
11/13 |
- |
1 |
4-95578582-T-G |
c.1469T>G |
p.V490G |
Missense |
11/13 |
- |
1 |
4-95578583-C-A |
c.1470C>A |
p.V490= |
Synonymous |
11/13 |
- |
1 |
4-95578583-C-G |
c.1470C>G |
p.V490= |
Synonymous |
11/13 |
- |
1 |
4-95578583-C-T |
c.1470C>T |
p.V490= |
Synonymous |
11/13 |
- |
1 |
4-95578584-A-G |
c.1471A>G |
p.I491V |
Missense |
11/13 |
- |
2 |
4-95578588-G-A |
c.1475G>A |
p.S492N |
Missense |
11/13 |
- |
38 |
4-95578589-T-A |
c.1476T>A |
p.S492R |
Missense |
11/13 |
- |
1 |
4-95578591-C-G |
c.1478C>G |
p.A493G |
Missense |
11/13 |
- |
1 |
4-95578591-C-T |
c.1478C>T |
p.A493V |
Missense |
11/13 |
- |
2 |
4-95578593-T-C |
c.1480T>C |
p.L494= |
Synonymous |
11/13 |
- |
2 |
4-95578595-G-A |
c.1482G>A |
p.L494= |
Synonymous |
11/13 |
- |
2 |
4-95578601-A-G |
c.1488A>G |
p.Q496= |
Synonymous |
11/13 |
- |
1 |
4-95578602-AC-TG |
c.1489_1490delinsTG |
p.T497C |
Missense |
11/13 |
- |
1 |
4-95578603-C-A |
c.1490C>A |
p.T497N |
Missense |
11/13 |
- |
1 |
4-95578603-CT-TG |
c.1490_1491delinsTG |
p.T497M |
Missense |
11/13 |
- |
1 |
4-95578606-G-C |
c.1493G>C |
p.W498S |
Missense |
11/13 |
- |
1 |
4-95578611-G-A |
c.1498G>A |
p.V500I |
Missense |
11/13 |
- |
1 |
4-95578614-T-C |
c.1501T>C |
p.S501P |
Missense |
11/13 |
- |
1 |
4-95578614-TC-CT |
c.1501_1502delinsCT |
p.S501L |
Missense |
11/13 |
- |
2 |
4-95578615-C-T |
c.1502C>T |
p.S501F |
Missense |
11/13 |
- |
1 |
4-95578616-C-A |
c.1503C>A |
p.S501= |
Synonymous |
11/13 |
- |
1 |
4-95578617-TG-GC |
c.1504_1505delinsGC |
p.C502A |
Missense |
11/13 |
- |
1 |
4-95578619-T-C |
c.1506T>C |
p.C502= |
Synonymous |
11/13 |
- |
2 |
4-95578620-T-C |
c.1507T>C |
p.F503L |
Missense |
11/13 |
- |
1 |
4-95578620-T-TG |
c.1507_1508insG |
p.F503Cfs*21 |
Frameshift |
11/13 |
- |
1 |
4-95578622-T-A |
c.1509T>A |
p.F503L |
Missense |
11/13 |
- |
1 |
4-95578622-T-G |
c.1509T>G |
p.F503L |
Missense |
11/13 |
- |
1 |
4-95578623-G-A |
c.1510G>A |
p.V504M |
Missense |
11/13 |
- |
1 |
4-95578624-T-G |
c.1511T>G |
p.V504G |
Missense |
11/13 |
- |
1 |
4-95578626-T-C |
c.1513T>C |
p.C505R |
Missense |
11/13 |
- |
1 |
4-95578626-TG-GC |
c.1513_1514delinsGC |
p.C505A |
Missense |
11/13 |
- |
1 |
4-95578629-G-A |
c.1516G>A |
p.V506I |
Missense |
11/13 |
- |
1 |
4-95578630-T-C |
c.1517T>C |
p.V506A |
Missense |
11/13 |
- |
1 |
4-95578632-G-A |
c.1519G>A |
p.A507T |
Missense |
11/13 |
- |
1 |
4-95578633-C-T |
c.1520C>T |
p.A507V |
Missense |
11/13 |
- |
1 |
4-95578634-C-A |
c.1521C>A |
p.A507= |
Synonymous |
11/13 |
- |
3 |
4-95578634-C-G |
c.1521C>G |
p.A507= |
Synonymous |
11/13 |
- |
1 |
4-95578634-C-T |
c.1521C>T |
p.A507= |
Synonymous |
11/13 |
- |
1 |
4-95578635-TG-GC |
c.1522_1523delinsGC |
p.C508A |
Missense |
11/13 |
- |
1 |
4-95578638-G-A |
c.1525G>A |
p.G509R |
Missense |
11/13 |
- |
1 |
4-95578638-GGA-TGG |
c.1525_1527delinsTGG |
p.G509W |
Missense |
11/13 |
- |
1 |
4-95578639-G-T |
c.1526G>T |
p.G509V |
Missense |
11/13 |
- |
1 |
4-95578640-A-T |
c.1527A>T |
p.G509= |
Synonymous |
11/13 |
- |
1 |
4-95578641-AA-GC |
c.1528_1529delinsGC |
p.K510A |
Missense |
11/13 |
- |
1 |
4-95578644-C-A |
c.1531C>A |
p.P511T |
Missense |
11/13 |
- |
2 |
4-95578645-C-A |
c.1532C>A |
p.P511H |
Missense |
11/13 |
- |
1 |
4-95578648-TT-GG |
c.1535_1536delinsGG |
p.I512R |
Missense |
11/13 |
- |
1 |
4-95578649-T-A |
c.1536T>A |
p.I512= |
Synonymous |
11/13 |
- |
1 |
4-95578649-T-C |
c.1536T>C |
p.I512= |
Synonymous |
11/13 |
- |
1 |
4-95578650-C-T |
c.1537C>T |
p.R513W |
Missense |
11/13 |
- |
14 |
4-95578651-G-A |
c.1538G>A |
p.R513Q |
Missense |
11/13 |
- |
2 |
4-95578656-A-G |
c.1543A>G |
p.N515D |
Missense |
11/13 |
- |
2 |
4-95578664-T-C |
c.1551T>C |
p.F517= |
Synonymous |
11/13 |
- |
1 |
4-95578668-T-C |
c.1555T>C |
p.L519= |
Synonymous |
11/13 |
- |
1 |
4-95578668-TT-CC |
c.1555_1556delinsCC |
p.L519P |
Missense |
11/13 |
- |
1 |
4-95578674-G-A |
c.1561G>A |
p.D521N |
Missense |
11/13 |
- |
1 |
4-95578678-G-T |
c.1565G>T |
p.G522V |
Missense |
11/13 |
- |
1 |
4-95578679-T-C |
c.1566T>C |
p.G522= |
Synonymous |
11/13 |
- |
1 |
4-95578680-G-A |
c.1567G>A |
p.E523K |
Missense |
11/13 |
- |
1 |
4-95578681-A-C |
c.1568A>C |
p.E523A |
Missense |
11/13 |
- |
1 |
4-95578684-C-A |
c.1571C>A |
p.P524H |
Missense |
11/13 |
- |
6 |
4-95578684-C-T |
c.1571C>T |
p.P524L |
Missense |
11/13 |
- |
3 |
4-95578688-C-A |
c.1575C>A |
p.Y525* |
Nonsense |
11/13 |
- |
1 |
4-95578689-TG-AC |
c.1576_1577delinsAC |
p.C526T |
Missense |
11/13 |
- |
1 |
4-95578692-G-A |
c.1579G>A |
p.E527K |
Missense |
11/13 |
- |
3 |
4-95578692-G-C |
c.1579G>C |
p.E527Q |
Missense |
11/13 |
- |
1 |
4-95578693-A-C |
c.1580A>C |
p.E527A |
Missense |
11/13 |
- |
2 |
4-95578696-C-T |
c.1583C>T |
p.T528I |
Missense |
11/13 |
- |
2 |
4-95578698-G-A |
c.1585G>A |
p.D529N |
Missense |
11/13 |
- |
1 |
4-95579366-T-C |
c.1585+668T>C |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95579705-T-C |
c.1585+1007T>C |
- |
IntronicSNV |
- |
11/12 |
3 |
4-95579739-A-C |
c.1585+1041A>C |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95579739-A-T |
c.1585+1041A>T |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95580095-G-A |
c.1585+1397G>A |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95580404-C-T |
c.1585+1706C>T |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95580633-A-G |
c.1585+1935A>G |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95580633-A-T |
c.1585+1935A>T |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95581344-C-T |
c.1586-2229C>T |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95581345-G-A |
c.1586-2228G>A |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95581720-G-A |
c.1586-1853G>A |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95581890-G-A |
c.1586-1683G>A |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95582026-C-A |
c.1586-1547C>A |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95582159-C-T |
c.1586-1414C>T |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95582213-C-T |
c.1586-1360C>T |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95582359-C-T |
c.1586-1214C>T |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95583042-G-C |
c.1586-531G>C |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95583392-G-T |
c.1586-181G>T |
- |
IntronicSNV |
- |
11/12 |
1 |
4-95583574-T-A |
c.1587T>A |
p.D529E |
Missense |
12/13 |
- |
1 |
4-95583574-T-G |
c.1587T>G |
p.D529E |
Missense |
12/13 |
- |
1 |
4-95583576-A-G |
c.1589A>G |
p.Y530C |
Missense |
12/13 |
- |
3 |
4-95583576-A-T |
c.1589A>T |
p.Y530F |
Missense |
12/13 |
- |
2 |
4-95583581-G-A |
c.1594G>A |
p.A532T |
Missense |
12/13 |
- |
1 |
4-95583584-C-G |
c.1597C>G |
p.L533V |
Missense |
12/13 |
- |
1 |
4-95583585-T-C |
c.1598T>C |
p.L533P |
Missense |
12/13 |
- |
1 |
4-95583586-C-G |
c.1599C>G |
p.L533= |
Synonymous |
12/13 |
- |
1 |
4-95583591-G-C |
c.1604G>C |
p.G535A |
Missense |
12/13 |
- |
1 |
4-95583593-AC-TG |
c.1606_1607delinsTG |
p.T536C |
Missense |
12/13 |
- |
1 |
4-95583596-A-G |
c.1609A>G |
p.I537V |
Missense |
12/13 |
- |
1 |
4-95583598-A-G |
c.1611A>G |
p.I537M |
Missense |
12/13 |
- |
1 |
4-95583599-T-C |
c.1612T>C |
p.C538R |
Missense |
12/13 |
- |
1 |
4-95583599-T-G |
c.1612T>G |
p.C538G |
Missense |
12/13 |
- |
1 |
4-95583599-TG-AC |
c.1612_1613delinsAC |
p.C538T |
Missense |
12/13 |
- |
1 |
4-95583604-T-C |
c.1617T>C |
p.H539= |
Synonymous |
12/13 |
- |
2 |
4-95583605-G-A |
c.1618G>A |
p.G540R |
Missense |
12/13 |
- |
1 |
4-95583605-G-C |
c.1618G>C |
p.G540R |
Missense |
12/13 |
- |
1 |
4-95583605-GGA-TGT |
c.1618_1620delinsTGT |
p.G540C |
Missense |
12/13 |
- |
1 |
4-95583608-TG-GC |
c.1621_1622delinsGC |
p.C541A |
Missense |
12/13 |
- |
1 |
4-95583609-G-A |
c.1622G>A |
p.C541Y |
Missense |
12/13 |
- |
1 |
4-95583611-G-A |
c.1624G>A |
p.E542K |
Missense |
12/13 |
- |
1 |
4-95583611-G-T |
c.1624G>T |
p.E542* |
Nonsense |
12/13 |
- |
1 |
4-95583615-T-G |
c.1628T>G |
p.F543C |
Missense |
12/13 |
- |
1 |
4-95583616-T-C |
c.1629T>C |
p.F543= |
Synonymous |
12/13 |
- |
3 |
4-95583617-C-A |
c.1630C>A |
p.P544T |
Missense |
12/13 |
- |
1 |
4-95583617-CC-TT |
c.1630_1631delinsTT |
p.P544F |
Missense |
12/13 |
- |
1 |
4-95583617-C-T |
c.1630C>T |
p.P544S |
Missense |
12/13 |
- |
6 |
4-95583618-C-T |
c.1631C>T |
p.P544L |
Missense |
12/13 |
- |
3 |
4-95583619-C-G |
c.1632C>G |
p.P544= |
Synonymous |
12/13 |
- |
1 |
4-95583623-G-A |
c.1636G>A |
p.E546K |
Missense |
12/13 |
- |
1 |
4-95583623-G-T |
c.1636G>T |
p.E546* |
Nonsense |
12/13 |
- |
2 |
4-95583624-A-G |
c.1637A>G |
p.E546G |
Missense |
12/13 |
- |
1 |
4-95583626-G-C |
c.1639G>C |
p.A547P |
Missense |
12/13 |
- |
1 |
4-95583629-G-C |
c.1642G>C |
p.G548R |
Missense |
12/13 |
- |
1 |
4-95583630-G-C |
c.1643G>C |
p.G548A |
Missense |
12/13 |
- |
1 |
4-95583632-G-A |
c.1645G>A |
p.D549N |
Missense |
12/13 |
- |
5 |
4-95583637-G-T |
c.1650G>T |
p.M550I |
Missense |
12/13 |
- |
2 |
4-95583638-T-A |
c.1651T>A |
p.F551I |
Missense |
12/13 |
- |
1 |
4-95583644-G-A |
c.1657G>A |
p.E553K |
Missense |
12/13 |
- |
3 |
4-95583647-G-C |
c.1660G>C |
p.A554P |
Missense |
12/13 |
- |
1 |
4-95583649-T-C |
c.1662T>C |
p.A554= |
Synonymous |
12/13 |
- |
1 |
4-95583650-C-T |
c.1663C>T |
p.L555= |
Synonymous |
12/13 |
- |
2 |
4-95583652-G-A |
c.1665G>A |
p.L555= |
Synonymous |
12/13 |
- |
1 |
4-95583652-G-C |
c.1665G>C |
p.L555= |
Synonymous |
12/13 |
- |
1 |
4-95583652-G-T |
c.1665G>T |
p.L555= |
Synonymous |
12/13 |
- |
1 |
4-95583653-G-A |
c.1666G>A |
p.G556S |
Missense |
12/13 |
- |
1 |
4-95583654-G-C |
c.1667G>C |
p.G556A |
Missense |
12/13 |
- |
1 |
4-95583655-C-T |
c.1668C>T |
p.G556= |
Synonymous |
12/13 |
- |
1 |
4-95583656-T-C |
c.1669T>C |
p.Y557H |
Missense |
12/13 |
- |
1 |
4-95583657-A-G |
c.1670A>G |
p.Y557C |
Missense |
12/13 |
- |
3 |
4-95583658-C-T |
c.1671C>T |
p.Y557= |
Synonymous |
12/13 |
- |
1 |
4-95583659-AC-GA |
c.1672_1673delinsGA |
p.T558D |
Missense |
12/13 |
- |
1 |
4-95583659-A-G |
c.1672A>G |
p.T558A |
Missense |
12/13 |
- |
1 |
4-95583669-A-C |
c.1682A>C |
p.D561A |
Missense |
12/13 |
- |
1 |
4-95583672-C-A |
c.1685C>A |
p.T562N |
Missense |
12/13 |
- |
1 |
4-95583674-TG-AC |
c.1687_1688delinsAC |
p.C563T |
Missense |
12/13 |
- |
1 |
4-95583676-C-T |
c.1689C>T |
p.C563= |
Synonymous |
12/13 |
- |
2 |
4-95583680-G-A |
c.1693G>A |
p.V565I |
Missense |
12/13 |
- |
1 |
4-95583683-T-G |
c.1696T>G |
p.C566G |
Missense |
12/13 |
- |
1 |
4-95583683-TG-AC |
c.1696_1697delinsAC |
p.C566T |
Missense |
12/13 |
- |
1 |
4-95583684-G-A |
c.1697G>A |
p.C566Y |
Missense |
12/13 |
- |
1 |
4-95583688-A-C |
c.1701A>C |
p.S567= |
Synonymous |
12/13 |
- |
1 |
4-95583688-A-G |
c.1701A>G |
p.S567= |
Synonymous |
12/13 |
- |
1 |
4-95583688-A-T |
c.1701A>T |
p.S567= |
Synonymous |
12/13 |
- |
1 |
4-95583827-C-T |
c.1701+139C>T |
- |
IntronicSNV |
- |
12/12 |
6 |
4-95584019-TG-T |
c.1701+333del |
- |
IntronicDeletion |
- |
12/12 |
1 |
4-95585038-G-A |
c.1702-91G>A |
- |
IntronicSNV |
- |
12/12 |
3 |
4-95585090-C-T |
c.1702-39C>T |
- |
IntronicSNV |
- |
12/12 |
1 |
4-95585129-G-A |
c.1702G>A |
p.V568M |
Missense |
13/13 |
- |
1 |
4-95585129-GTG-ATC |
c.1702_1704delinsATC |
p.V568I |
Missense |
13/13 |
- |
2 |
4-95585132-TG-AC |
c.1705_1706delinsAC |
p.C569T |
Missense |
13/13 |
- |
1 |
4-95585133-G-A |
c.1706G>A |
p.C569Y |
Missense |
13/13 |
- |
1 |
4-95585133-G-T |
c.1706G>T |
p.C569F |
Missense |
13/13 |
- |
1 |
4-95585135-T-A |
c.1708T>A |
p.C570S |
Missense |
13/13 |
- |
1 |
4-95585135-T-C |
c.1708T>C |
p.C570R |
Missense |
13/13 |
- |
1 |
4-95585136-G-C |
c.1709G>C |
p.C570S |
Missense |
13/13 |
- |
1 |
4-95585138-G-A |
c.1711G>A |
p.E571K |
Missense |
13/13 |
- |
5 |
4-95585138-G-T |
c.1711G>T |
p.E571* |
Nonsense |
13/13 |
- |
1 |
4-95585140-A-C |
c.1713A>C |
p.E571D |
Missense |
13/13 |
- |
2 |
4-95585140-A-T |
c.1713A>T |
p.E571D |
Missense |
13/13 |
- |
2 |
4-95585141-A-T |
c.1714A>T |
p.S572C |
Missense |
13/13 |
- |
1 |
4-95585143-T-C |
c.1716T>C |
p.S572= |
Synonymous |
13/13 |
- |
1 |
4-95585146-G-A |
c.1719G>A |
p.L573= |
Synonymous |
13/13 |
- |
1 |
4-95585150-G-A |
c.1723G>A |
p.G575S |
Missense |
13/13 |
- |
1 |
4-95585150-G-C |
c.1723G>C |
p.G575R |
Missense |
13/13 |
- |
1 |
4-95585151-G-C |
c.1724G>C |
p.G575A |
Missense |
13/13 |
- |
1 |
4-95585151-G-T |
c.1724G>T |
p.G575V |
Missense |
13/13 |
- |
1 |
4-95585152-T-A |
c.1725T>A |
p.G575= |
Synonymous |
13/13 |
- |
1 |
4-95585152-T-C |
c.1725T>C |
p.G575= |
Synonymous |
13/13 |
- |
1 |
4-95585152-T-G |
c.1725T>G |
p.G575= |
Synonymous |
13/13 |
- |
1 |
4-95585153-C-G |
c.1726C>G |
p.Q576E |
Missense |
13/13 |
- |
1 |
4-95585154-A-G |
c.1727A>G |
p.Q576R |
Missense |
13/13 |
- |
1 |
4-95585155-G-A |
c.1728G>A |
p.Q576= |
Synonymous |
13/13 |
- |
1 |
4-95585159-T-C |
c.1732T>C |
p.F578L |
Missense |
13/13 |
- |
2 |
4-95585161-T-A |
c.1734T>A |
p.F578L |
Missense |
13/13 |
- |
2 |
4-95585161-T-G |
c.1734T>G |
p.F578L |
Missense |
13/13 |
- |
2 |
4-95585163-T-A |
c.1736T>A |
p.F579Y |
Missense |
13/13 |
- |
1 |
4-95585163-T-C |
c.1736T>C |
p.F579S |
Missense |
13/13 |
- |
1 |
4-95585164-C-T |
c.1737C>T |
p.F579= |
Synonymous |
13/13 |
- |
2 |
4-95585166-C-T |
c.1739C>T |
p.S580F |
Missense |
13/13 |
- |
4 |
4-95585167-C-T |
c.1740C>T |
p.S580= |
Synonymous |
13/13 |
- |
1 |
4-95585167-CAAG-C |
c.1744_1746del |
p.K582del |
InFrameDeletion |
13/13 |
- |
2 |
4-95585172-A-G |
c.1745A>G |
p.K582R |
Missense |
13/13 |
- |
1 |
4-95585172-A-T |
c.1745A>T |
p.K582M |
Missense |
13/13 |
- |
1 |
4-95585179-G-C |
c.1752G>C |
p.K584N |
Missense |
13/13 |
- |
1 |
4-95585179-G-T |
c.1752G>T |
p.K584N |
Missense |
13/13 |
- |
1 |
4-95585180-C-T |
c.1753C>T |
p.P585S |
Missense |
13/13 |
- |
2 |
4-95585181-C-T |
c.1754C>T |
p.P585L |
Missense |
13/13 |
- |
1 |
4-95585182-C-T |
c.1755C>T |
p.P585= |
Synonymous |
13/13 |
- |
1 |
4-95585183-C-T |
c.1756C>T |
p.L586= |
Synonymous |
13/13 |
- |
1 |
4-95585185-G-A |
c.1758G>A |
p.L586= |
Synonymous |
13/13 |
- |
1 |
4-95585185-G-C |
c.1758G>C |
p.L586= |
Synonymous |
13/13 |
- |
1 |
4-95585185-G-T |
c.1758G>T |
p.L586= |
Synonymous |
13/13 |
- |
1 |
4-95585186-TG-AC |
c.1759_1760delinsAC |
p.C587T |
Missense |
13/13 |
- |
1 |
4-95585186-TG-GC |
c.1759_1760delinsGC |
p.C587A |
Missense |
13/13 |
- |
1 |
4-95585187-G-T |
c.1760G>T |
p.C587F |
Missense |
13/13 |
- |
1 |
4-95585190-A-C |
c.1763A>C |
p.K588T |
Missense |
13/13 |
- |
1 |
4-95585194-A-C |
c.1767A>C |
p.K589N |
Missense |
13/13 |
- |
2 |
4-95585194-A-T |
c.1767A>T |
p.K589N |
Missense |
13/13 |
- |
1 |
4-95585195-CAT-GAG |
c.1768_1770delinsGAG |
p.H590E |
Missense |
13/13 |
- |
1 |
4-95585195-C-T |
c.1768C>T |
p.H590Y |
Missense |
13/13 |
- |
2 |
4-95585196-A-G |
c.1769A>G |
p.H590R |
Missense |
13/13 |
- |
1 |
4-95585197-T-C |
c.1770T>C |
p.H590= |
Synonymous |
13/13 |
- |
2 |
4-95585198-G-A |
c.1771G>A |
p.A591T |
Missense |
13/13 |
- |
1 |
4-95585199-C-T |
c.1772C>T |
p.A591V |
Missense |
13/13 |
- |
2 |
4-95585202-A-G |
c.1775A>G |
p.H592R |
Missense |
13/13 |
- |
7 |
4-95585206-T-A |
c.1779T>A |
p.S593= |
Synonymous |
13/13 |
- |
1 |
4-95585206-T-C |
c.1779T>C |
p.S593= |
Synonymous |
13/13 |
- |
1 |
4-95585206-T-G |
c.1779T>G |
p.S593= |
Synonymous |
13/13 |
- |
1 |
4-95585209-G-GT |
c.1782_1783insT |
p.N595* |
Nonsense |
13/13 |
- |
1 |
4-95585225-A-G |
c.*7A>G |
- |
3-UTRSNV |
13/13 |
- |
10 |
4-95585748-C-T |
c.*530C>T |
- |
3-UTRSNV |
13/13 |
- |
3 |
4-95586015-T-A |
c.*797T>A |
- |
3-UTRSNV |
13/13 |
- |
3 |
4-95586015-T-C |
c.*797T>C |
- |
3-UTRSNV |
13/13 |
- |
3 |
4-95586224-A-G |
c.*1006A>G |
- |
3-UTRSNV |
13/13 |
- |
6 |
4-95586224-A-T |
c.*1006A>T |
- |
3-UTRSNV |
13/13 |
- |
6 |
4-95586279-T-C |
c.*1061T>C |
- |
3-UTRSNV |
13/13 |
- |
4 |
4-95586279-T-G |
c.*1061T>G |
- |
3-UTRSNV |
13/13 |
- |
4 |
4-95586405-C-G |
c.*1187C>G |
- |
3-UTRSNV |
13/13 |
- |
5 |
4-95586405-C-T |
c.*1187C>T |
- |
3-UTRSNV |
13/13 |
- |
5 |
4-95586675-T-A |
c.*1457T>A |
- |
3-UTRSNV |
13/13 |
- |
1 |
4-95586675-T-C |
c.*1457T>C |
- |
3-UTRSNV |
13/13 |
- |
1 |
4-95586675-T-G |
c.*1457T>G |
- |
3-UTRSNV |
13/13 |
- |
1 |
4-95586727-G-T |
c.*1509G>T |
- |
3-UTRSNV |
13/13 |
- |
1 |
4-95587259-A-C |
c.*2041A>C |
- |
3-UTRSNV |
13/13 |
- |
6 |
4-95587340-A-G |
c.*2122A>G |
- |
3-UTRSNV |
13/13 |
- |
1 |
4-95587587-T-C |
c.*2369T>C |
- |
3-UTRSNV |
13/13 |
- |
4 |
4-95587675-T-C |
c.*2457T>C |
- |
3-UTRSNV |
13/13 |
- |
3 |
4-95588075-G-A |
c.*2857G>A |
- |
3-UTRSNV |
13/13 |
- |
6 |
4-95588158-C-G |
c.*2940C>G |
- |
3-UTRSNV |
13/13 |
- |
5 |
4-95588274-G-A |
c.*3056G>A |
- |
3-UTRSNV |
13/13 |
- |
6 |
4-95588449-G-C |
c.*3231G>C |
- |
3-UTRSNV |
13/13 |
- |
5 |
4-95588449-G-T |
c.*3231G>T |
- |
3-UTRSNV |
13/13 |
- |
5 |
4-95588565-T-C |
c.*3347T>C |
- |
3-UTRSNV |
13/13 |
- |
1 |
4-95588565-T-G |
c.*3347T>G |
- |
3-UTRSNV |
13/13 |
- |
1 |
4-95588674-T-C |
c.*3456T>C |
- |
3-UTRSNV |
13/13 |
- |
8 |
4-95588817-G-C |
c.*3599G>C |
- |
3-UTRSNV |
13/13 |
- |
1 |
4-95588823-G-A |
c.*3605G>A |
- |
3-UTRSNV |
13/13 |
- |
3 |
4-95589337-G-A |
c.*4119G>A |
- |
3-UTRSNV |
13/13 |
- |
4 |