2-47630302-C-T |
c.-29C>T |
- |
5-UTRSNV |
1/16 |
- |
2 |
2-47630307-A-G |
c.-24A>G |
- |
5-UTRSNV |
1/16 |
- |
1 |
2-47630322-G-A |
c.-9G>A |
- |
5-UTRSNV |
1/16 |
- |
1 |
2-47630322-G-C |
c.-9G>C |
- |
5-UTRSNV |
1/16 |
- |
1 |
2-47630328-G-C |
c.-3G>C |
- |
5-UTRSNV |
1/16 |
- |
1 |
2-47630331-CATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGT-C |
c.1_59del |
p.M1_?20 |
Multi:SpliceDonorDeletion,CdsStartDeletion |
1/16 |
- |
3 |
2-47630331-A-G |
c.1A>G |
p.M1? |
Missense |
1/16 |
- |
17 |
2-47630331-A-T |
c.1A>T |
p.M1? |
Missense |
1/16 |
- |
12 |
2-47630331-A-C |
c.1A>C |
p.M1? |
Missense |
1/16 |
- |
13 |
2-47630332-T-G |
c.2T>G |
p.M1? |
Missense |
1/16 |
- |
2 |
2-47630332-T-A |
c.2T>A |
p.M1? |
Missense |
1/16 |
- |
1 |
2-47630332-T-C |
c.2T>C |
p.M1? |
Missense |
1/16 |
- |
2 |
2-47630333-G-T |
c.3G>T |
p.M1? |
Missense |
1/16 |
- |
1 |
2-47630334-G-A |
c.4G>A |
p.A2T |
Missense |
1/16 |
- |
13 |
2-47630334-G-C |
c.4G>C |
p.A2P |
Missense |
1/16 |
- |
1 |
2-47630334-G-T |
c.4G>T |
p.A2S |
Missense |
1/16 |
- |
1 |
2-47630335-C-T |
c.5C>T |
p.A2V |
Missense |
1/16 |
- |
9 |
2-47630335-C-A |
c.5C>A |
p.A2E |
Missense |
1/16 |
- |
4 |
2-47630335-C-G |
c.5C>G |
p.A2G |
Missense |
1/16 |
- |
1 |
2-47630336-G-T |
c.6G>T |
p.A2= |
Synonymous |
1/16 |
- |
3 |
2-47630336-G-C |
c.6G>C |
p.A2= |
Synonymous |
1/16 |
- |
1 |
2-47630337-G-A |
c.7G>A |
p.V3M |
Missense |
1/16 |
- |
5 |
2-47630337-G-T |
c.7G>T |
p.V3L |
Missense |
1/16 |
- |
5 |
2-47630337-G-C |
c.7G>C |
p.V3L |
Missense |
1/16 |
- |
1 |
2-47630338-T-C |
c.8T>C |
p.V3A |
Missense |
1/16 |
- |
1 |
2-47630338-T-G |
c.8T>G |
p.V3G |
Missense |
1/16 |
- |
1 |
2-47630339-G-A |
c.9G>A |
p.V3= |
Synonymous |
1/16 |
- |
1 |
2-47630339-G-C |
c.9G>C |
p.V3= |
Synonymous |
1/16 |
- |
1 |
2-47630339-G-T |
c.9G>T |
p.V3= |
Synonymous |
1/16 |
- |
1 |
2-47630340-C-A |
c.10C>A |
p.Q4K |
Missense |
1/16 |
- |
3 |
2-47630340-C-T |
c.10C>T |
p.Q4* |
Nonsense |
1/16 |
- |
5 |
2-47630341-A-T |
c.11A>T |
p.Q4L |
Missense |
1/16 |
- |
5 |
2-47630341-A-C |
c.11A>C |
p.Q4P |
Missense |
1/16 |
- |
3 |
2-47630341-A-G |
c.11A>G |
p.Q4R |
Missense |
1/16 |
- |
1 |
2-47630341-AG-CC |
c.11_12delinsCC |
p.Q4P |
Missense |
1/16 |
- |
1 |
2-47630340-C-CA |
c.11dup |
p.P5Afs*77 |
Frameshift |
1/16 |
- |
3 |
2-47630342-G-T |
c.12G>T |
p.Q4H |
Missense |
1/16 |
- |
2 |
2-47630342-G-C |
c.12G>C |
p.Q4H |
Missense |
1/16 |
- |
1 |
2-47630343-C-A |
c.13C>A |
p.P5T |
Missense |
1/16 |
- |
1 |
2-47630343-C-G |
c.13C>G |
p.P5A |
Missense |
1/16 |
- |
1 |
2-47630343-C-T |
c.13C>T |
p.P5S |
Missense |
1/16 |
- |
1 |
2-47630344-C-A |
c.14C>A |
p.P5Q |
Missense |
1/16 |
- |
29 |
2-47630344-CG-AT |
c.14_15delinsAT |
p.P5H |
Missense |
1/16 |
- |
1 |
2-47630342-GC-G |
c.14del |
p.P5Rfs*59 |
Frameshift |
1/16 |
- |
1 |
2-47630344-C-T |
c.14C>T |
p.P5L |
Missense |
1/16 |
- |
4 |
2-47630344-C-G |
c.14C>G |
p.P5R |
Missense |
1/16 |
- |
3 |
2-47630346-A-G |
c.16A>G |
p.K6E |
Missense |
1/16 |
- |
4 |
2-47630346-A-C |
c.16A>C |
p.K6Q |
Missense |
1/16 |
- |
1 |
2-47630347-A-T |
c.17A>T |
p.K6M |
Missense |
1/16 |
- |
1 |
2-47630347-A-C |
c.17A>C |
p.K6T |
Missense |
1/16 |
- |
1 |
2-47630347-A-G |
c.17A>G |
p.K6R |
Missense |
1/16 |
- |
1 |
2-47630348-AGGAGACGCTGCAGTTGG-A |
c.18_34del |
p.T8Rfs*68 |
Frameshift |
1/16 |
- |
1 |
2-47630348-G-T |
c.18G>T |
p.K6N |
Missense |
1/16 |
- |
1 |
2-47630348-G-C |
c.18G>C |
p.K6N |
Missense |
1/16 |
- |
1 |
2-47630348-G-A |
c.18G>A |
p.K6= |
Synonymous |
1/16 |
- |
1 |
2-47630349-G-A |
c.19G>A |
p.E7K |
Missense |
1/16 |
- |
1 |
2-47630349-G-C |
c.19G>C |
p.E7Q |
Missense |
1/16 |
- |
2 |
2-47630350-A-T |
c.20A>T |
p.E7V |
Missense |
1/16 |
- |
2 |
2-47630350-GA-G |
c.20del |
p.E7Gfs*57 |
Frameshift |
1/16 |
- |
6 |
2-47630350-A-G |
c.20A>G |
p.E7G |
Missense |
1/16 |
- |
3 |
2-47630350-A-C |
c.20A>C |
p.E7A |
Missense |
1/16 |
- |
2 |
2-47630345-G-GAAGGAGGCAGTACAACCT |
c.21_22insGCAGTACAACCTAAGGAG |
p.A2_E7dup |
InFrameInsertion |
1/16 |
- |
2 |
2-47630350-A-AG |
c.21dup |
p.T8Dfs*74 |
Frameshift |
1/16 |
- |
3 |
2-47630351-G-C |
c.21G>C |
p.E7D |
Missense |
1/16 |
- |
1 |
2-47630351-G-T |
c.21G>T |
p.E7D |
Missense |
1/16 |
- |
1 |
2-47630352-A-T |
c.22A>T |
p.T8S |
Missense |
1/16 |
- |
4 |
2-47630352-A-C |
c.22A>C |
p.T8P |
Missense |
1/16 |
- |
1 |
2-47630352-A-G |
c.22A>G |
p.T8A |
Missense |
1/16 |
- |
3 |
2-47630353-C-G |
c.23C>G |
p.T8R |
Missense |
1/16 |
- |
5 |
2-47630353-C-T |
c.23C>T |
p.T8M |
Missense |
1/16 |
- |
37 |
2-47630353-C-A |
c.23C>A |
p.T8K |
Missense |
1/16 |
- |
1 |
2-47630355-C-A |
c.25C>A |
p.L9M |
Missense |
1/16 |
- |
1 |
2-47630355-C-G |
c.25C>G |
p.L9V |
Missense |
1/16 |
- |
1 |
2-47630356-T-A |
c.26T>A |
p.L9Q |
Missense |
1/16 |
- |
1 |
2-47630356-T-C |
c.26T>C |
p.L9P |
Missense |
1/16 |
- |
1 |
2-47630356-T-G |
c.26T>G |
p.L9R |
Missense |
1/16 |
- |
1 |
2-47630358-C-A |
c.28C>A |
p.Q10K |
Missense |
1/16 |
- |
3 |
2-47630358-C-G |
c.28C>G |
p.Q10E |
Missense |
1/16 |
- |
2 |
2-47630358-C-T |
c.28C>T |
p.Q10* |
Nonsense |
1/16 |
- |
7 |
2-47630358-CA-GC |
c.28_29delinsGC |
p.Q10A |
Missense |
1/16 |
- |
1 |
2-47630358-C-CA |
c.29dup |
p.L11Vfs*71 |
Frameshift |
1/16 |
- |
3 |
2-47630359-A-C |
c.29A>C |
p.Q10P |
Missense |
1/16 |
- |
1 |
2-47630359-A-G |
c.29A>G |
p.Q10R |
Missense |
1/16 |
- |
1 |
2-47630359-A-T |
c.29A>T |
p.Q10L |
Missense |
1/16 |
- |
1 |
2-47630360-G-A |
c.30G>A |
p.Q10= |
Synonymous |
1/16 |
- |
1 |
2-47630360-G-T |
c.30G>T |
p.Q10H |
Missense |
1/16 |
- |
3 |
2-47630360-G-C |
c.30G>C |
p.Q10H |
Missense |
1/16 |
- |
2 |
2-47630361-T-A |
c.31T>A |
p.L11M |
Missense |
1/16 |
- |
1 |
2-47630361-T-G |
c.31T>G |
p.L11V |
Missense |
1/16 |
- |
2 |
2-47630362-T-A |
c.32T>A |
p.L11* |
Nonsense |
1/16 |
- |
1 |
2-47630362-T-C |
c.32T>C |
p.L11S |
Missense |
1/16 |
- |
1 |
2-47630362-T-G |
c.32T>G |
p.L11W |
Missense |
1/16 |
- |
1 |
2-47630363-G-T |
c.33G>T |
p.L11F |
Missense |
1/16 |
- |
2 |
2-47630363-G-C |
c.33G>C |
p.L11F |
Missense |
1/16 |
- |
1 |
2-47630362-T-TG |
c.34dup |
p.E12Gfs*70 |
Frameshift |
1/16 |
- |
8 |
2-47630364-GAG-TTT |
c.34_36delinsTTT |
p.E12F |
Missense |
1/16 |
- |
1 |
2-47630364-GA-AG |
c.34_35delinsAG |
p.E12R |
Missense |
1/16 |
- |
1 |
2-47630364-G-A |
c.34G>A |
p.E12K |
Missense |
1/16 |
- |
3 |
2-47630364-G-C |
c.34G>C |
p.E12Q |
Missense |
1/16 |
- |
2 |
2-47630365-A-T |
c.35A>T |
p.E12V |
Missense |
1/16 |
- |
2 |
2-47630365-A-C |
c.35A>C |
p.E12A |
Missense |
1/16 |
- |
2 |
2-47630365-A-G |
c.35A>G |
p.E12G |
Missense |
1/16 |
- |
2 |
2-47630366-G-C |
c.36G>C |
p.E12D |
Missense |
1/16 |
- |
2 |
2-47630366-G-T |
c.36G>T |
p.E12D |
Missense |
1/16 |
- |
1 |
2-47630367-A-T |
c.37A>T |
p.S13C |
Missense |
1/16 |
- |
9 |
2-47630367-AG-GA |
c.37_38delinsGA |
p.S13D |
Missense |
1/16 |
- |
4 |
2-47630367-AG-GC |
c.37_38delinsGC |
p.S13A |
Missense |
1/16 |
- |
8 |
2-47630367-AGC-CAA |
c.37_39delinsCAA |
p.S13Q |
Missense |
1/16 |
- |
1 |
2-47630367-AG-CC |
c.37_38delinsCC |
p.S13P |
Missense |
1/16 |
- |
1 |
2-47630367-AG-CT |
c.37_38inv |
p.S13L |
Missense |
1/16 |
- |
1 |
2-47630367-A-G |
c.37A>G |
p.S13G |
Missense |
1/16 |
- |
2 |
2-47630367-AG-CA |
c.37_38delinsCA |
p.S13H |
Missense |
1/16 |
- |
1 |
2-47630367-AG-TT |
c.37_38delinsTT |
p.S13F |
Missense |
1/16 |
- |
1 |
2-47630367-AGC-GAG |
c.37_39delinsGAG |
p.S13E |
Missense |
1/16 |
- |
1 |
2-47630367-AG-TA |
c.37_38delinsTA |
p.S13Y |
Missense |
1/16 |
- |
1 |
2-47630367-AGC-TGG |
c.37_39delinsTGG |
p.S13W |
Missense |
1/16 |
- |
1 |
2-47630367-AG-GT |
c.37_38delinsGT |
p.S13V |
Missense |
1/16 |
- |
1 |
2-47630368-G-T |
c.38G>T |
p.S13I |
Missense |
1/16 |
- |
5 |
2-47630368-G-A |
c.38G>A |
p.S13N |
Missense |
1/16 |
- |
6 |
2-47630368-GC-TG |
c.38_39delinsTG |
p.S13M |
Missense |
1/16 |
- |
1 |
2-47630368-G-C |
c.38G>C |
p.S13T |
Missense |
1/16 |
- |
2 |
2-47630368-GC-AG |
c.38_39delinsAG |
p.S13K |
Missense |
1/16 |
- |
1 |
2-47630369-C-T |
c.39C>T |
p.S13= |
Synonymous |
1/16 |
- |
1 |
2-47630369-C-G |
c.39C>G |
p.S13R |
Missense |
1/16 |
- |
3 |
2-47630369-C-A |
c.39C>A |
p.S13R |
Missense |
1/16 |
- |
3 |
2-47630367-A-C |
c.37A>C |
p.S13R |
Missense |
1/16 |
- |
2 |
2-47630365-AGAGCGCGGCC-A |
c.39_48del |
p.S13Rfs*48 |
Frameshift |
1/16 |
- |
1 |
2-47630370-G-A |
c.40G>A |
p.A14T |
Missense |
1/16 |
- |
6 |
2-47630370-GCG-TGT |
c.40_42delinsTGT |
p.A14C |
Missense |
1/16 |
- |
2 |
2-47630370-GC-TG |
c.40_41delinsTG |
p.A14W |
Missense |
1/16 |
- |
3 |
2-47630370-GC-AT |
c.40_41delinsAT |
p.A14M |
Missense |
1/16 |
- |
2 |
2-47630370-GCG-TTT |
c.40_42delinsTTT |
p.A14F |
Missense |
1/16 |
- |
1 |
2-47630370-GCG-TAT |
c.40_42delinsTAT |
p.A14Y |
Missense |
1/16 |
- |
1 |
2-47630370-G-T |
c.40G>T |
p.A14S |
Missense |
1/16 |
- |
3 |
2-47630370-GCG-ATC |
c.40_42delinsATC |
p.A14I |
Missense |
1/16 |
- |
1 |
2-47630370-GC-AA |
c.40_41delinsAA |
p.A14K |
Missense |
1/16 |
- |
1 |
2-47630370-GC-CT |
c.40_41delinsCT |
p.A14L |
Missense |
1/16 |
- |
1 |
2-47630370-GC-AG |
c.40_41delinsAG |
p.A14R |
Missense |
1/16 |
- |
1 |
2-47630370-GCG-CAT |
c.40_42delinsCAT |
p.A14H |
Missense |
1/16 |
- |
1 |
2-47630370-GC-CA |
c.40_41delinsCA |
p.A14Q |
Missense |
1/16 |
- |
1 |
2-47630370-G-C |
c.40G>C |
p.A14P |
Missense |
1/16 |
- |
4 |
2-47630370-GCG-AAC |
c.40_42delinsAAC |
p.A14N |
Missense |
1/16 |
- |
3 |
2-47630371-C-G |
c.41C>G |
p.A14G |
Missense |
1/16 |
- |
2 |
2-47630371-C-T |
c.41C>T |
p.A14V |
Missense |
1/16 |
- |
3 |
2-47630371-C-A |
c.41C>A |
p.A14E |
Missense |
1/16 |
- |
2 |
2-47630371-CG-AC |
c.41_42delinsAC |
p.A14D |
Missense |
1/16 |
- |
1 |
2-47630372-G-A |
c.42G>A |
p.A14= |
Synonymous |
1/16 |
- |
2 |
2-47630372-G-C |
c.42G>C |
p.A14= |
Synonymous |
1/16 |
- |
1 |
2-47630372-G-T |
c.42G>T |
p.A14= |
Synonymous |
1/16 |
- |
1 |
2-47630373-GC-CG |
c.43_44delinsCG |
p.A15R |
Missense |
1/16 |
- |
2 |
2-47630373-G-T |
c.43G>T |
p.A15S |
Missense |
1/16 |
- |
4 |
2-47630371-CG-C |
c.43del |
p.A15Pfs*49 |
Frameshift |
1/16 |
- |
1 |
2-47630373-GC-CT |
c.43_44delinsCT |
p.A15L |
Missense |
1/16 |
- |
1 |
2-47630373-GCC-AAG |
c.43_45delinsAAG |
p.A15K |
Missense |
1/16 |
- |
2 |
2-47630373-GC-AT |
c.43_44delinsAT |
p.A15I |
Missense |
1/16 |
- |
1 |
2-47630373-GC-CA |
c.43_44delinsCA |
p.A15H |
Missense |
1/16 |
- |
2 |
2-47630373-GC-TT |
c.43_44delinsTT |
p.A15F |
Missense |
1/16 |
- |
1 |
2-47630373-GC-TG |
c.43_44delinsTG |
p.A15C |
Missense |
1/16 |
- |
1 |
2-47630373-G-C |
c.43G>C |
p.A15P |
Missense |
1/16 |
- |
2 |
2-47630373-GC-AA |
c.43_44delinsAA |
p.A15N |
Missense |
1/16 |
- |
1 |
2-47630373-GCC-ATG |
c.43_45delinsATG |
p.A15M |
Missense |
1/16 |
- |
2 |
2-47630373-GC-TA |
c.43_44delinsTA |
p.A15Y |
Missense |
1/16 |
- |
1 |
2-47630373-GCC-TGG |
c.43_45delinsTGG |
p.A15W |
Missense |
1/16 |
- |
2 |
2-47630373-GCC-CAA |
c.43_45delinsCAA |
p.A15Q |
Missense |
1/16 |
- |
1 |
2-47630373-G-A |
c.43G>A |
p.A15T |
Missense |
1/16 |
- |
3 |
2-47630373-GCC-TAA |
c.43_45delinsTAA |
p.A15* |
Nonsense |
1/16 |
- |
1 |
2-47630374-C-G |
c.44C>G |
p.A15G |
Missense |
1/16 |
- |
5 |
2-47630374-C-A |
c.44C>A |
p.A15D |
Missense |
1/16 |
- |
4 |
2-47630374-CC-AG |
c.44_45delinsAG |
p.A15E |
Missense |
1/16 |
- |
6 |
2-47630374-C-T |
c.44C>T |
p.A15V |
Missense |
1/16 |
- |
2 |
2-47630375-C-A |
c.45C>A |
p.A15= |
Synonymous |
1/16 |
- |
1 |
2-47630375-C-G |
c.45C>G |
p.A15= |
Synonymous |
1/16 |
- |
1 |
2-47630375-C-T |
c.45C>T |
p.A15= |
Synonymous |
1/16 |
- |
1 |
2-47630376-G-A |
c.46G>A |
p.E16K |
Missense |
1/16 |
- |
3 |
2-47630376-GA-CT |
c.46_47delinsCT |
p.E16L |
Missense |
1/16 |
- |
1 |
2-47630376-GA-AG |
c.46_47delinsAG |
p.E16R |
Missense |
1/16 |
- |
1 |
2-47630376-GAG-TTT |
c.46_48delinsTTT |
p.E16F |
Missense |
1/16 |
- |
1 |
2-47630376-GAG-TAT |
c.46_48delinsTAT |
p.E16Y |
Missense |
1/16 |
- |
1 |
2-47630376-GAG-TGT |
c.46_48delinsTGT |
p.E16C |
Missense |
1/16 |
- |
1 |
2-47630376-GA-TG |
c.46_47delinsTG |
p.E16W |
Missense |
1/16 |
- |
1 |
2-47630376-GA-AC |
c.46_47delinsAC |
p.E16T |
Missense |
1/16 |
- |
1 |
2-47630376-GA-TC |
c.46_47inv |
p.E16S |
Missense |
1/16 |
- |
1 |
2-47630376-G-C |
c.46G>C |
p.E16Q |
Missense |
1/16 |
- |
2 |
2-47630376-GA-CC |
c.46_47delinsCC |
p.E16P |
Missense |
1/16 |
- |
1 |
2-47630376-GA-AT |
c.46_47delinsAT |
p.E16M |
Missense |
1/16 |
- |
1 |
2-47630376-GAG-CAT |
c.46_48delinsCAT |
p.E16H |
Missense |
1/16 |
- |
1 |
2-47630376-GAG-AAC |
c.46_48delinsAAC |
p.E16N |
Missense |
1/16 |
- |
1 |
2-47630376-GAG-ATC |
c.46_48delinsATC |
p.E16I |
Missense |
1/16 |
- |
1 |
2-47630377-A-G |
c.47A>G |
p.E16G |
Missense |
1/16 |
- |
2 |
2-47630377-A-T |
c.47A>T |
p.E16V |
Missense |
1/16 |
- |
2 |
2-47630377-A-C |
c.47A>C |
p.E16A |
Missense |
1/16 |
- |
3 |
2-47630378-G-C |
c.48G>C |
p.E16D |
Missense |
1/16 |
- |
3 |
2-47630378-G-T |
c.48G>T |
p.E16D |
Missense |
1/16 |
- |
2 |
2-47630378-AGGTCGGCTTCGTGCGCTTCTT-A |
c.48_68del |
p.E16_F23delinsD |
MultiAAMissense |
1/16 |
- |
1 |
2-47630379-G-T |
c.49G>T |
p.V17F |
Missense |
1/16 |
- |
7 |
2-47630379-G-A |
c.49G>A |
p.V17I |
Missense |
1/16 |
- |
5 |
2-47630379-GT-TG |
c.49_50delinsTG |
p.V17C |
Missense |
1/16 |
- |
1 |
2-47630379-GT-CG |
c.49_50delinsCG |
p.V17R |
Missense |
1/16 |
- |
1 |
2-47630379-GT-TA |
c.49_50delinsTA |
p.V17Y |
Missense |
1/16 |
- |
1 |
2-47630379-GTC-TGG |
c.49_51delinsTGG |
p.V17W |
Missense |
1/16 |
- |
1 |
2-47630379-GT-AA |
c.49_50delinsAA |
p.V17N |
Missense |
1/16 |
- |
1 |
2-47630379-GT-AG |
c.49_50delinsAG |
p.V17S |
Missense |
1/16 |
- |
1 |
2-47630379-GT-AC |
c.49_50inv |
p.V17T |
Missense |
1/16 |
- |
1 |
2-47630379-GTC-AAG |
c.49_51delinsAAG |
p.V17K |
Missense |
1/16 |
- |
1 |
2-47630379-GT-CC |
c.49_50delinsCC |
p.V17P |
Missense |
1/16 |
- |
1 |
2-47630379-GTC-CAA |
c.49_51delinsCAA |
p.V17Q |
Missense |
1/16 |
- |
1 |
2-47630379-GT-CA |
c.49_50delinsCA |
p.V17H |
Missense |
1/16 |
- |
1 |
2-47630379-GTC-ATG |
c.49_51delinsATG |
p.V17M |
Missense |
1/16 |
- |
1 |
2-47630379-G-C |
c.49G>C |
p.V17L |
Missense |
1/16 |
- |
3 |
2-47630380-T-G |
c.50T>G |
p.V17G |
Missense |
1/16 |
- |
3 |
2-47630380-T-C |
c.50T>C |
p.V17A |
Missense |
1/16 |
- |
3 |
2-47630380-TC-AG |
c.50_51delinsAG |
p.V17E |
Missense |
1/16 |
- |
1 |
2-47630380-T-A |
c.50T>A |
p.V17D |
Missense |
1/16 |
- |
2 |
2-47630382-G-A |
c.52G>A |
p.G18S |
Missense |
1/16 |
- |
5 |
2-47630382-GG-TA |
c.52_53delinsTA |
p.G18Y |
Missense |
1/16 |
- |
1 |
2-47630382-GGC-TGG |
c.52_54delinsTGG |
p.G18W |
Missense |
1/16 |
- |
1 |
2-47630382-GG-AC |
c.52_53delinsAC |
p.G18T |
Missense |
1/16 |
- |
1 |
2-47630382-GGC-CAA |
c.52_54delinsCAA |
p.G18Q |
Missense |
1/16 |
- |
1 |
2-47630382-GG-CA |
c.52_53delinsCA |
p.G18H |
Missense |
1/16 |
- |
1 |
2-47630382-GG-AT |
c.52_53delinsAT |
p.G18I |
Missense |
1/16 |
- |
1 |
2-47630382-GG-CT |
c.52_53delinsCT |
p.G18L |
Missense |
1/16 |
- |
1 |
2-47630382-GG-TT |
c.52_53delinsTT |
p.G18F |
Missense |
1/16 |
- |
1 |
2-47630382-G-T |
c.52G>T |
p.G18C |
Missense |
1/16 |
- |
3 |
2-47630382-G-C |
c.52G>C |
p.G18R |
Missense |
1/16 |
- |
3 |
2-47630382-GG-AA |
c.52_53delinsAA |
p.G18N |
Missense |
1/16 |
- |
1 |
2-47630382-GGC-ATG |
c.52_54delinsATG |
p.G18M |
Missense |
1/16 |
- |
1 |
2-47630382-GG-CC |
c.52_53inv |
p.G18P |
Missense |
1/16 |
- |
1 |
2-47630382-GGC-AAG |
c.52_54delinsAAG |
p.G18K |
Missense |
1/16 |
- |
1 |
2-47630383-G-T |
c.53G>T |
p.G18V |
Missense |
1/16 |
- |
2 |
2-47630383-G-A |
c.53G>A |
p.G18D |
Missense |
1/16 |
- |
3 |
2-47630383-GC-AG |
c.53_54delinsAG |
p.G18E |
Missense |
1/16 |
- |
1 |
2-47630383-G-C |
c.53G>C |
p.G18A |
Missense |
1/16 |
- |
2 |
2-47630384-C-G |
c.54C>G |
p.G18= |
Synonymous |
1/16 |
- |
1 |
2-47630384-C-T |
c.54C>T |
p.G18= |
Synonymous |
1/16 |
- |
1 |
2-47630385-T-C |
c.55T>C |
p.F19L |
Missense |
1/16 |
- |
11 |
2-47630387-C-A |
c.57C>A |
p.F19L |
Missense |
1/16 |
- |
3 |
2-47630387-C-G |
c.57C>G |
p.F19L |
Missense |
1/16 |
- |
3 |
2-47630385-T-A |
c.55T>A |
p.F19I |
Missense |
1/16 |
- |
2 |
2-47630385-TTC-AAG |
c.55_57delinsAAG |
p.F19K |
Missense |
1/16 |
- |
1 |
2-47630385-TTC-ATG |
c.55_57delinsATG |
p.F19M |
Missense |
1/16 |
- |
1 |
2-47630385-TT-AA |
c.55_56inv |
p.F19N |
Missense |
1/16 |
- |
1 |
2-47630385-T-G |
c.55T>G |
p.F19V |
Missense |
1/16 |
- |
3 |
2-47630385-TT-AC |
c.55_56delinsAC |
p.F19T |
Missense |
1/16 |
- |
1 |
2-47630385-TT-CG |
c.55_56delinsCG |
p.F19R |
Missense |
1/16 |
- |
1 |
2-47630385-TTC-CAA |
c.55_57delinsCAA |
p.F19Q |
Missense |
1/16 |
- |
1 |
2-47630385-TT-CC |
c.55_56delinsCC |
p.F19P |
Missense |
1/16 |
- |
1 |
2-47630385-TT-GG |
c.55_56delinsGG |
p.F19G |
Missense |
1/16 |
- |
1 |
2-47630385-TTC-GAG |
c.55_57delinsGAG |
p.F19E |
Missense |
1/16 |
- |
1 |
2-47630385-TT-GA |
c.55_56delinsGA |
p.F19D |
Missense |
1/16 |
- |
1 |
2-47630385-TT-CA |
c.55_56delinsCA |
p.F19H |
Missense |
1/16 |
- |
1 |
2-47630385-TT-GC |
c.55_56delinsGC |
p.F19A |
Missense |
1/16 |
- |
1 |
2-47630386-T-G |
c.56T>G |
p.F19C |
Missense |
1/16 |
- |
3 |
2-47630386-T-A |
c.56T>A |
p.F19Y |
Missense |
1/16 |
- |
2 |
2-47630386-TC-GG |
c.56_57delinsGG |
p.F19W |
Missense |
1/16 |
- |
1 |
2-47630386-T-C |
c.56T>C |
p.F19S |
Missense |
1/16 |
- |
3 |
2-47630387-C-T |
c.57C>T |
p.F19= |
Synonymous |
1/16 |
- |
2 |
2-47630388-GT-CC |
c.58_59delinsCC |
p.V20P |
Missense |
1/16 |
- |
1 |
2-47630388-GTG-AAC |
c.58_60delinsAAC |
p.V20N |
Missense |
1/16 |
- |
1 |
2-47630388-G-A |
c.58G>A |
p.V20M |
Missense |
1/16 |
- |
4 |
2-47630388-G-T |
c.58G>T |
p.V20L |
Missense |
1/16 |
- |
3 |
2-47630388-GT-AA |
c.58_59delinsAA |
p.V20K |
Missense |
1/16 |
- |
1 |
2-47630388-GTG-ATC |
c.58_60delinsATC |
p.V20I |
Missense |
1/16 |
- |
1 |
2-47630388-GTG-CAT |
c.58_60delinsCAT |
p.V20H |
Missense |
1/16 |
- |
1 |
2-47630388-GTG-TTT |
c.58_60delinsTTT |
p.V20F |
Missense |
1/16 |
- |
1 |
2-47630388-GTG-TAT |
c.58_60delinsTAT |
p.V20Y |
Missense |
1/16 |
- |
1 |
2-47630388-GT-TG |
c.58_59delinsTG |
p.V20W |
Missense |
1/16 |
- |
1 |
2-47630388-GTG-TGT |
c.58_60delinsTGT |
p.V20C |
Missense |
1/16 |
- |
1 |
2-47630388-GT-AC |
c.58_59inv |
p.V20T |
Missense |
1/16 |
- |
1 |
2-47630388-GT-TC |
c.58_59delinsTC |
p.V20S |
Missense |
1/16 |
- |
1 |
2-47630388-GT-AG |
c.58_59delinsAG |
p.V20R |
Missense |
1/16 |
- |
1 |
2-47630388-GT-CA |
c.58_59delinsCA |
p.V20Q |
Missense |
1/16 |
- |
1 |
2-47630384-CTTCGTGCGCTTCT-C |
c.58_70del |
p.V20Rfs*40 |
Frameshift |
1/16 |
- |
1 |
2-47630388-G-C |
c.58G>C |
p.V20L |
Missense |
1/16 |
- |
1 |
2-47630389-T-G |
c.59T>G |
p.V20G |
Missense |
1/16 |
- |
2 |
2-47630389-T-A |
c.59T>A |
p.V20E |
Missense |
1/16 |
- |
2 |
2-47630389-TG-AC |
c.59_60delinsAC |
p.V20D |
Missense |
1/16 |
- |
1 |
2-47630389-T-C |
c.59T>C |
p.V20A |
Missense |
1/16 |
- |
2 |
2-47630391-C-T |
c.61C>T |
p.R21C |
Missense |
1/16 |
- |
4 |
2-47630391-CGC-AAG |
c.61_63delinsAAG |
p.R21K |
Missense |
1/16 |
- |
1 |
2-47630391-CG-GA |
c.61_62delinsGA |
p.R21D |
Missense |
1/16 |
- |
1 |
2-47630391-CG-GC |
c.61_62delinsGC |
p.R21A |
Missense |
1/16 |
- |
2 |
2-47630391-CGC-GAG |
c.61_63delinsGAG |
p.R21E |
Missense |
1/16 |
- |
1 |
2-47630391-CGC-ATG |
c.61_63delinsATG |
p.R21M |
Missense |
1/16 |
- |
1 |
2-47630391-CG-TT |
c.61_62delinsTT |
p.R21F |
Missense |
1/16 |
- |
1 |
2-47630391-CG-AT |
c.61_62delinsAT |
p.R21I |
Missense |
1/16 |
- |
1 |
2-47630391-C-G |
c.61C>G |
p.R21G |
Missense |
1/16 |
- |
3 |
2-47630391-CG-AA |
c.61_62delinsAA |
p.R21N |
Missense |
1/16 |
- |
1 |
2-47630391-C-A |
c.61C>A |
p.R21S |
Missense |
1/16 |
- |
3 |
2-47630391-CG-TA |
c.61_62delinsTA |
p.R21Y |
Missense |
1/16 |
- |
1 |
2-47630391-CG-AC |
c.61_62delinsAC |
p.R21T |
Missense |
1/16 |
- |
1 |
2-47630391-CGC-TGG |
c.61_63delinsTGG |
p.R21W |
Missense |
1/16 |
- |
1 |
2-47630391-CG-GT |
c.61_62delinsGT |
p.R21V |
Missense |
1/16 |
- |
1 |
2-47630392-G-T |
c.62G>T |
p.R21L |
Missense |
1/16 |
- |
4 |
2-47630392-G-A |
c.62G>A |
p.R21H |
Missense |
1/16 |
- |
4 |
2-47630392-GC-AA |
c.62_63delinsAA |
p.R21Q |
Missense |
1/16 |
- |
1 |
2-47630392-G-C |
c.62G>C |
p.R21P |
Missense |
1/16 |
- |
2 |
2-47630389-TGCGCTTCTTTCAGG-T |
c.62_75del |
p.R21Hfs*56 |
Frameshift |
1/16 |
- |
1 |
2-47630392-GC-TT |
c.62_63delinsTT |
p.R21L |
Missense |
1/16 |
- |
1 |
2-47630394-T-C |
c.64T>C |
p.F22L |
Missense |
1/16 |
- |
5 |
2-47630394-TT-GG |
c.64_65delinsGG |
p.F22G |
Missense |
1/16 |
- |
1 |
2-47630394-TT-AA |
c.64_65inv |
p.F22N |
Missense |
1/16 |
- |
1 |
2-47630394-T-A |
c.64T>A |
p.F22I |
Missense |
1/16 |
- |
3 |
2-47630394-TT-CA |
c.64_65delinsCA |
p.F22H |
Missense |
1/16 |
- |
1 |
2-47630396-C-A |
c.66C>A |
p.F22L |
Missense |
1/16 |
- |
2 |
2-47630396-C-G |
c.66C>G |
p.F22L |
Missense |
1/16 |
- |
3 |
2-47630394-TTC-AAG |
c.64_66delinsAAG |
p.F22K |
Missense |
1/16 |
- |
1 |
2-47630394-TT-GA |
c.64_65delinsGA |
p.F22D |
Missense |
1/16 |
- |
2 |
2-47630394-TT-GC |
c.64_65delinsGC |
p.F22A |
Missense |
1/16 |
- |
1 |
2-47630394-T-G |
c.64T>G |
p.F22V |
Missense |
1/16 |
- |
2 |
2-47630394-TT-AC |
c.64_65delinsAC |
p.F22T |
Missense |
1/16 |
- |
1 |
2-47630394-TT-CC |
c.64_65delinsCC |
p.F22P |
Missense |
1/16 |
- |
1 |
2-47630394-TTC-CAA |
c.64_66delinsCAA |
p.F22Q |
Missense |
1/16 |
- |
1 |
2-47630394-TTC-GAG |
c.64_66delinsGAG |
p.F22E |
Missense |
1/16 |
- |
1 |
2-47630394-TTC-ATG |
c.64_66delinsATG |
p.F22M |
Missense |
1/16 |
- |
1 |
2-47630394-TT-CG |
c.64_65delinsCG |
p.F22R |
Missense |
1/16 |
- |
1 |
2-47630395-TC-GG |
c.65_66delinsGG |
p.F22W |
Missense |
1/16 |
- |
1 |
2-47630395-T-A |
c.65T>A |
p.F22Y |
Missense |
1/16 |
- |
2 |
2-47630395-T-C |
c.65T>C |
p.F22S |
Missense |
1/16 |
- |
2 |
2-47630395-T-G |
c.65T>G |
p.F22C |
Missense |
1/16 |
- |
2 |
2-47630396-C-T |
c.66C>T |
p.F22= |
Synonymous |
1/16 |
- |
1 |
2-47630397-T-C |
c.67T>C |
p.F23L |
Missense |
1/16 |
- |
15 |
2-47630399-T-A |
c.69T>A |
p.F23L |
Missense |
1/16 |
- |
8 |
2-47630399-T-G |
c.69T>G |
p.F23L |
Missense |
1/16 |
- |
8 |
2-47630397-TT-AA |
c.67_68inv |
p.F23N |
Missense |
1/16 |
- |
1 |
2-47630397-TT-GG |
c.67_68delinsGG |
p.F23G |
Missense |
1/16 |
- |
1 |
2-47630397-T-G |
c.67T>G |
p.F23V |
Missense |
1/16 |
- |
3 |
2-47630397-TT-AC |
c.67_68delinsAC |
p.F23T |
Missense |
1/16 |
- |
1 |
2-47630397-TT-CG |
c.67_68delinsCG |
p.F23R |
Missense |
1/16 |
- |
1 |
2-47630397-TTT-CAA |
c.67_69delinsCAA |
p.F23Q |
Missense |
1/16 |
- |
1 |
2-47630397-TT-CC |
c.67_68delinsCC |
p.F23P |
Missense |
1/16 |
- |
1 |
2-47630397-TT-GC |
c.67_68delinsGC |
p.F23A |
Missense |
1/16 |
- |
1 |
2-47630397-TT-CA |
c.67_68delinsCA |
p.F23H |
Missense |
1/16 |
- |
1 |
2-47630397-TTT-AAG |
c.67_69delinsAAG |
p.F23K |
Missense |
1/16 |
- |
1 |
2-47630397-TT-GA |
c.67_68delinsGA |
p.F23D |
Missense |
1/16 |
- |
1 |
2-47630397-TTT-GAG |
c.67_69delinsGAG |
p.F23E |
Missense |
1/16 |
- |
2 |
2-47630397-T-A |
c.67T>A |
p.F23I |
Missense |
1/16 |
- |
2 |
2-47630397-TTT-ATG |
c.67_69delinsATG |
p.F23M |
Missense |
1/16 |
- |
1 |
2-47630393-CTTCT-C |
c.67_70del |
p.F23Rfs*40 |
Frameshift |
1/16 |
- |
1 |
2-47630398-T-C |
c.68T>C |
p.F23S |
Missense |
1/16 |
- |
4 |
2-47630398-T-A |
c.68T>A |
p.F23Y |
Missense |
1/16 |
- |
2 |
2-47630398-TT-GG |
c.68_69delinsGG |
p.F23W |
Missense |
1/16 |
- |
1 |
2-47630398-T-G |
c.68T>G |
p.F23C |
Missense |
1/16 |
- |
2 |
2-47630396-C-CT |
c.69dup |
p.Q24Sfs*58 |
Frameshift |
1/16 |
- |
1 |
2-47630399-T-C |
c.69T>C |
p.F23= |
Synonymous |
1/16 |
- |
2 |
2-47630400-C-G |
c.70C>G |
p.Q24E |
Missense |
1/16 |
- |
6 |
2-47630400-C-T |
c.70C>T |
p.Q24* |
Nonsense |
1/16 |
- |
7 |
2-47630400-CA-TG |
c.70_71inv |
p.Q24W |
Missense |
1/16 |
- |
1 |
2-47630400-CA-GT |
c.70_71delinsGT |
p.Q24V |
Missense |
1/16 |
- |
1 |
2-47630400-CA-GC |
c.70_71delinsGC |
p.Q24A |
Missense |
1/16 |
- |
2 |
2-47630400-CA-AC |
c.70_71delinsAC |
p.Q24T |
Missense |
1/16 |
- |
1 |
2-47630400-CA-TC |
c.70_71delinsTC |
p.Q24S |
Missense |
1/16 |
- |
1 |
2-47630400-CAG-AAC |
c.70_72delinsAAC |
p.Q24N |
Missense |
1/16 |
- |
1 |
2-47630400-CA-AT |
c.70_71delinsAT |
p.Q24M |
Missense |
1/16 |
- |
1 |
2-47630400-C-A |
c.70C>A |
p.Q24K |
Missense |
1/16 |
- |
2 |
2-47630400-CAG-ATC |
c.70_72delinsATC |
p.Q24I |
Missense |
1/16 |
- |
1 |
2-47630400-CA-GG |
c.70_71delinsGG |
p.Q24G |
Missense |
1/16 |
- |
1 |
2-47630400-CAG-TGT |
c.70_72delinsTGT |
p.Q24C |
Missense |
1/16 |
- |
1 |
2-47630400-CAG-TAT |
c.70_72delinsTAT |
p.Q24Y |
Missense |
1/16 |
- |
1 |
2-47630400-CAG-TTT |
c.70_72delinsTTT |
p.Q24F |
Missense |
1/16 |
- |
1 |
2-47630400-CAG-GAC |
c.70_72delinsGAC |
p.Q24D |
Missense |
1/16 |
- |
1 |
2-47630401-CA-C |
c.71del |
p.Q24Rfs*40 |
Frameshift |
1/16 |
- |
2 |
2-47630401-A-G |
c.71A>G |
p.Q24R |
Missense |
1/16 |
- |
2 |
2-47630401-A-C |
c.71A>C |
p.Q24P |
Missense |
1/16 |
- |
2 |
2-47630401-A-T |
c.71A>T |
p.Q24L |
Missense |
1/16 |
- |
2 |
2-47630400-C-CA |
c.71dup |
p.M26Hfs*56 |
Frameshift |
1/16 |
- |
3 |
2-47630402-G-T |
c.72G>T |
p.Q24H |
Missense |
1/16 |
- |
4 |
2-47630402-G-C |
c.72G>C |
p.Q24H |
Missense |
1/16 |
- |
2 |
2-47630403-G-T |
c.73G>T |
p.G25C |
Missense |
1/16 |
- |
5 |
2-47630403-GG-AT |
c.73_74delinsAT |
p.G25I |
Missense |
1/16 |
- |
1 |
2-47630403-GG-CA |
c.73_74delinsCA |
p.G25H |
Missense |
1/16 |
- |
1 |
2-47630403-GG-TT |
c.73_74delinsTT |
p.G25F |
Missense |
1/16 |
- |
1 |
2-47630403-GGC-AAG |
c.73_75delinsAAG |
p.G25K |
Missense |
1/16 |
- |
1 |
2-47630403-GG-TA |
c.73_74delinsTA |
p.G25Y |
Missense |
1/16 |
- |
1 |
2-47630403-GGC-TGG |
c.73_75delinsTGG |
p.G25W |
Missense |
1/16 |
- |
1 |
2-47630403-GG-AC |
c.73_74delinsAC |
p.G25T |
Missense |
1/16 |
- |
1 |
2-47630403-G-A |
c.73G>A |
p.G25S |
Missense |
1/16 |
- |
2 |
2-47630403-G-C |
c.73G>C |
p.G25R |
Missense |
1/16 |
- |
2 |
2-47630403-GGC-CAA |
c.73_75delinsCAA |
p.G25Q |
Missense |
1/16 |
- |
1 |
2-47630403-GG-CC |
c.73_74inv |
p.G25P |
Missense |
1/16 |
- |
1 |
2-47630403-GG-AA |
c.73_74delinsAA |
p.G25N |
Missense |
1/16 |
- |
1 |
2-47630403-GGC-ATG |
c.73_75delinsATG |
p.G25M |
Missense |
1/16 |
- |
1 |
2-47630403-GG-CT |
c.73_74delinsCT |
p.G25L |
Missense |
1/16 |
- |
1 |
2-47630399-TCAGGGCATGCCGGAGAAGCCGACCACCA-T |
c.73_100del |
p.G25Cfs*30 |
Frameshift |
1/16 |
- |
1 |
2-47630403-G-GC |
c.73_74insC |
p.G25Afs*57 |
Frameshift |
1/16 |
- |
3 |
2-47630404-G-A |
c.74G>A |
p.G25D |
Missense |
1/16 |
- |
11 |
2-47630404-G-C |
c.74G>C |
p.G25A |
Missense |
1/16 |
- |
3 |
2-47630404-G-T |
c.74G>T |
p.G25V |
Missense |
1/16 |
- |
3 |
2-47630404-GC-AG |
c.74_75delinsAG |
p.G25E |
Missense |
1/16 |
- |
1 |
2-47630405-GCAT-G |
c.75_77del |
p.M26del |
InFrameDeletion |
1/16 |
- |
1 |
2-47630405-GC-G |
c.75del |
p.M26Cfs*38 |
Frameshift |
1/16 |
- |
1 |
2-47630406-A-C |
c.76A>C |
p.M26L |
Missense |
1/16 |
- |
6 |
2-47630406-A-T |
c.76A>T |
p.M26L |
Missense |
1/16 |
- |
3 |
2-47630406-A-G |
c.76A>G |
p.M26V |
Missense |
1/16 |
- |
4 |
2-47630406-CATG-C |
c.76_78del |
p.M26del |
InFrameDeletion |
1/16 |
- |
1 |
2-47630406-AT-GG |
c.76_77delinsGG |
p.M26G |
Missense |
1/16 |
- |
1 |
2-47630406-ATG-TTT |
c.76_78delinsTTT |
p.M26F |
Missense |
1/16 |
- |
1 |
2-47630406-AT-GA |
c.76_77delinsGA |
p.M26E |
Missense |
1/16 |
- |
1 |
2-47630406-ATG-GAC |
c.76_78delinsGAC |
p.M26D |
Missense |
1/16 |
- |
1 |
2-47630406-ATG-TGT |
c.76_78delinsTGT |
p.M26C |
Missense |
1/16 |
- |
2 |
2-47630406-AT-GC |
c.76_77delinsGC |
p.M26A |
Missense |
1/16 |
- |
1 |
2-47630406-ATG-TAT |
c.76_78delinsTAT |
p.M26Y |
Missense |
1/16 |
- |
1 |
2-47630406-AT-TG |
c.76_77delinsTG |
p.M26W |
Missense |
1/16 |
- |
1 |
2-47630406-AT-CA |
c.76_77delinsCA |
p.M26Q |
Missense |
1/16 |
- |
1 |
2-47630406-ATG-CAT |
c.76_78inv |
p.M26H |
Missense |
1/16 |
- |
2 |
2-47630406-AT-CC |
c.76_77delinsCC |
p.M26P |
Missense |
1/16 |
- |
1 |
2-47630407-T-C |
c.77T>C |
p.M26T |
Missense |
1/16 |
- |
3 |
2-47630407-TG-AC |
c.77_78delinsAC |
p.M26N |
Missense |
1/16 |
- |
1 |
2-47630407-T-G |
c.77T>G |
p.M26R |
Missense |
1/16 |
- |
3 |
2-47630407-TG-GC |
c.77_78delinsGC |
p.M26S |
Missense |
1/16 |
- |
1 |
2-47630407-T-A |
c.77T>A |
p.M26K |
Missense |
1/16 |
- |
2 |
2-47630408-G-C |
c.78G>C |
p.M26I |
Missense |
1/16 |
- |
2 |
2-47630408-G-A |
c.78G>A |
p.M26I |
Missense |
1/16 |
- |
2 |
2-47630408-G-T |
c.78G>T |
p.M26I |
Missense |
1/16 |
- |
2 |
2-47630409-C-G |
c.79C>G |
p.P27A |
Missense |
1/16 |
- |
4 |
2-47630409-CCG-TTT |
c.79_81delinsTTT |
p.P27F |
Missense |
1/16 |
- |
1 |
2-47630409-CCG-TGT |
c.79_81delinsTGT |
p.P27C |
Missense |
1/16 |
- |
1 |
2-47630409-CC-GG |
c.79_80inv |
p.P27G |
Missense |
1/16 |
- |
1 |
2-47630409-CC-AT |
c.79_80delinsAT |
p.P27M |
Missense |
1/16 |
- |
1 |
2-47630409-CC-GA |
c.79_80delinsGA |
p.P27E |
Missense |
1/16 |
- |
1 |
2-47630409-CC-AA |
c.79_80delinsAA |
p.P27K |
Missense |
1/16 |
- |
1 |
2-47630409-CCG-GAC |
c.79_81delinsGAC |
p.P27D |
Missense |
1/16 |
- |
1 |
2-47630409-CCG-ATC |
c.79_81delinsATC |
p.P27I |
Missense |
1/16 |
- |
1 |
2-47630409-CCG-TAT |
c.79_81delinsTAT |
p.P27Y |
Missense |
1/16 |
- |
1 |
2-47630409-CCG-AAC |
c.79_81delinsAAC |
p.P27N |
Missense |
1/16 |
- |
1 |
2-47630409-C-T |
c.79C>T |
p.P27S |
Missense |
1/16 |
- |
3 |
2-47630409-CC-TG |
c.79_80delinsTG |
p.P27W |
Missense |
1/16 |
- |
1 |
2-47630409-CC-GT |
c.79_80delinsGT |
p.P27V |
Missense |
1/16 |
- |
1 |
2-47630409-C-A |
c.79C>A |
p.P27T |
Missense |
1/16 |
- |
3 |
2-47630409-CC-TA |
c.79_80delinsTA |
p.P27* |
Nonsense |
1/16 |
- |
1 |
2-47630410-C-T |
c.80C>T |
p.P27L |
Missense |
1/16 |
- |
11 |
2-47630410-CG-AT |
c.80_81delinsAT |
p.P27H |
Missense |
1/16 |
- |
1 |
2-47630410-C-A |
c.80C>A |
p.P27Q |
Missense |
1/16 |
- |
2 |
2-47630410-C-G |
c.80C>G |
p.P27R |
Missense |
1/16 |
- |
6 |
2-47630411-G-T |
c.81G>T |
p.P27= |
Synonymous |
1/16 |
- |
1 |
2-47630410-CG-C |
c.82del |
p.E28Rfs*36 |
Frameshift |
1/16 |
- |
4 |
2-47630412-G-A |
c.82G>A |
p.E28K |
Missense |
1/16 |
- |
3 |
2-47630412-GA-TG |
c.82_83delinsTG |
p.E28W |
Missense |
1/16 |
- |
1 |
2-47630412-GA-AG |
c.82_83delinsAG |
p.E28R |
Missense |
1/16 |
- |
2 |
2-47630412-GA-TC |
c.82_83inv |
p.E28S |
Missense |
1/16 |
- |
1 |
2-47630412-GAG-TAT |
c.82_84delinsTAT |
p.E28Y |
Missense |
1/16 |
- |
1 |
2-47630412-GAG-AAC |
c.82_84delinsAAC |
p.E28N |
Missense |
1/16 |
- |
1 |
2-47630412-G-C |
c.82G>C |
p.E28Q |
Missense |
1/16 |
- |
2 |
2-47630412-GA-AC |
c.82_83delinsAC |
p.E28T |
Missense |
1/16 |
- |
1 |
2-47630412-GA-AT |
c.82_83delinsAT |
p.E28M |
Missense |
1/16 |
- |
1 |
2-47630412-GA-CC |
c.82_83delinsCC |
p.E28P |
Missense |
1/16 |
- |
1 |
2-47630412-GA-CT |
c.82_83delinsCT |
p.E28L |
Missense |
1/16 |
- |
1 |
2-47630412-GAG-TGT |
c.82_84delinsTGT |
p.E28C |
Missense |
1/16 |
- |
1 |
2-47630412-GAG-ATC |
c.82_84delinsATC |
p.E28I |
Missense |
1/16 |
- |
1 |
2-47630412-GAG-CAT |
c.82_84delinsCAT |
p.E28H |
Missense |
1/16 |
- |
1 |
2-47630412-GAG-TTT |
c.82_84delinsTTT |
p.E28F |
Missense |
1/16 |
- |
1 |
2-47630412-G-T |
c.82G>T |
p.E28* |
Nonsense |
1/16 |
- |
4 |
2-47630413-A-G |
c.83A>G |
p.E28G |
Missense |
1/16 |
- |
4 |
2-47630413-A-T |
c.83A>T |
p.E28V |
Missense |
1/16 |
- |
4 |
2-47630413-A-C |
c.83A>C |
p.E28A |
Missense |
1/16 |
- |
3 |
2-47630414-G-A |
c.84G>A |
p.E28= |
Synonymous |
1/16 |
- |
1 |
2-47630414-G-C |
c.84G>C |
p.E28D |
Missense |
1/16 |
- |
3 |
2-47630414-G-T |
c.84G>T |
p.E28D |
Missense |
1/16 |
- |
3 |
2-47630415-A-T |
c.85A>T |
p.K29* |
Nonsense |
1/16 |
- |
3 |
2-47630415-AAG-TAT |
c.85_87delinsTAT |
p.K29Y |
Missense |
1/16 |
- |
1 |
2-47630415-AA-TG |
c.85_86delinsTG |
p.K29W |
Missense |
1/16 |
- |
1 |
2-47630415-AA-CC |
c.85_86delinsCC |
p.K29P |
Missense |
1/16 |
- |
1 |
2-47630415-AA-CT |
c.85_86delinsCT |
p.K29L |
Missense |
1/16 |
- |
1 |
2-47630415-AA-GG |
c.85_86delinsGG |
p.K29G |
Missense |
1/16 |
- |
1 |
2-47630415-AA-GT |
c.85_86delinsGT |
p.K29V |
Missense |
1/16 |
- |
1 |
2-47630415-AAG-CAT |
c.85_87delinsCAT |
p.K29H |
Missense |
1/16 |
- |
1 |
2-47630415-A-G |
c.85A>G |
p.K29E |
Missense |
1/16 |
- |
3 |
2-47630415-AAG-TGT |
c.85_87delinsTGT |
p.K29C |
Missense |
1/16 |
- |
1 |
2-47630415-AAG-GAC |
c.85_87delinsGAC |
p.K29D |
Missense |
1/16 |
- |
1 |
2-47630415-AAG-TTT |
c.85_87delinsTTT |
p.K29F |
Missense |
1/16 |
- |
1 |
2-47630415-AA-GC |
c.85_86delinsGC |
p.K29A |
Missense |
1/16 |
- |
2 |
2-47630415-A-C |
c.85A>C |
p.K29Q |
Missense |
1/16 |
- |
2 |
2-47630414-GA-G |
c.86del |
p.K29Sfs*35 |
Frameshift |
1/16 |
- |
1 |
2-47630416-A-T |
c.86A>T |
p.K29M |
Missense |
1/16 |
- |
2 |
2-47630416-AG-TC |
c.86_87delinsTC |
p.K29I |
Missense |
1/16 |
- |
1 |
2-47630416-A-C |
c.86A>C |
p.K29T |
Missense |
1/16 |
- |
3 |
2-47630416-AG-GC |
c.86_87delinsGC |
p.K29S |
Missense |
1/16 |
- |
1 |
2-47630416-A-G |
c.86A>G |
p.K29R |
Missense |
1/16 |
- |
3 |
2-47630417-AGCCGACC-A |
c.87_93del |
p.T31Qfs*31 |
Frameshift |
1/16 |
- |
1 |
2-47630417-G-C |
c.87G>C |
p.K29N |
Missense |
1/16 |
- |
3 |
2-47630417-G-T |
c.87G>T |
p.K29N |
Missense |
1/16 |
- |
3 |
2-47630417-AGCCG-A |
c.87_90del |
p.T31Pfs*32 |
Frameshift |
1/16 |
- |
1 |
2-47630418-C-G |
c.88C>G |
p.P30A |
Missense |
1/16 |
- |
2 |
2-47630418-CCG-TAT |
c.88_90delinsTAT |
p.P30Y |
Missense |
1/16 |
- |
1 |
2-47630418-CC-TG |
c.88_89delinsTG |
p.P30W |
Missense |
1/16 |
- |
1 |
2-47630418-CC-GT |
c.88_89delinsGT |
p.P30V |
Missense |
1/16 |
- |
1 |
2-47630418-C-A |
c.88C>A |
p.P30T |
Missense |
1/16 |
- |
3 |
2-47630418-C-T |
c.88C>T |
p.P30S |
Missense |
1/16 |
- |
5 |
2-47630418-CCG-TGT |
c.88_90delinsTGT |
p.P30C |
Missense |
1/16 |
- |
1 |
2-47630418-CCG-GAC |
c.88_90delinsGAC |
p.P30D |
Missense |
1/16 |
- |
1 |
2-47630418-CC-GA |
c.88_89delinsGA |
p.P30E |
Missense |
1/16 |
- |
1 |
2-47630418-CCG-TTT |
c.88_90delinsTTT |
p.P30F |
Missense |
1/16 |
- |
1 |
2-47630418-CCG-AAC |
c.88_90delinsAAC |
p.P30N |
Missense |
1/16 |
- |
1 |
2-47630418-CC-AT |
c.88_89delinsAT |
p.P30M |
Missense |
1/16 |
- |
1 |
2-47630418-CC-AA |
c.88_89delinsAA |
p.P30K |
Missense |
1/16 |
- |
1 |
2-47630418-CCG-ATC |
c.88_90delinsATC |
p.P30I |
Missense |
1/16 |
- |
1 |
2-47630418-CC-GG |
c.88_89inv |
p.P30G |
Missense |
1/16 |
- |
1 |
2-47630419-C-G |
c.89C>G |
p.P30R |
Missense |
1/16 |
- |
3 |
2-47630419-C-A |
c.89C>A |
p.P30Q |
Missense |
1/16 |
- |
1 |
2-47630419-C-T |
c.89C>T |
p.P30L |
Missense |
1/16 |
- |
5 |
2-47630419-CG-AT |
c.89_90delinsAT |
p.P30H |
Missense |
1/16 |
- |
1 |
2-47630421-AC-CA |
c.91_92delinsCA |
p.T31H |
Missense |
1/16 |
- |
1 |
2-47630421-AC-GG |
c.91_92delinsGG |
p.T31G |
Missense |
1/16 |
- |
2 |
2-47630421-AC-TT |
c.91_92delinsTT |
p.T31F |
Missense |
1/16 |
- |
1 |
2-47630421-ACC-GAG |
c.91_93delinsGAG |
p.T31E |
Missense |
1/16 |
- |
1 |
2-47630421-AC-GA |
c.91_92delinsGA |
p.T31D |
Missense |
1/16 |
- |
1 |
2-47630421-AC-TG |
c.91_92delinsTG |
p.T31C |
Missense |
1/16 |
- |
1 |
2-47630421-A-G |
c.91A>G |
p.T31A |
Missense |
1/16 |
- |
3 |
2-47630421-AC-CT |
c.91_92delinsCT |
p.T31L |
Missense |
1/16 |
- |
1 |
2-47630421-ACC-CAA |
c.91_93delinsCAA |
p.T31Q |
Missense |
1/16 |
- |
1 |
2-47630421-A-C |
c.91A>C |
p.T31P |
Missense |
1/16 |
- |
3 |
2-47630421-ACC-TGG |
c.91_93delinsTGG |
p.T31W |
Missense |
1/16 |
- |
1 |
2-47630421-AC-TA |
c.91_92delinsTA |
p.T31Y |
Missense |
1/16 |
- |
1 |
2-47630421-AC-GT |
c.91_92inv |
p.T31V |
Missense |
1/16 |
- |
1 |
2-47630421-A-AG |
c.91_92insG |
p.T31Sfs*51 |
Frameshift |
1/16 |
- |
1 |
2-47630422-C-T |
c.92C>T |
p.T31I |
Missense |
1/16 |
- |
4 |
2-47630422-C-A |
c.92C>A |
p.T31N |
Missense |
1/16 |
- |
2 |
2-47630422-CC-TG |
c.92_93delinsTG |
p.T31M |
Missense |
1/16 |
- |
1 |
2-47630422-CC-AG |
c.92_93delinsAG |
p.T31K |
Missense |
1/16 |
- |
1 |
2-47630422-C-G |
c.92C>G |
p.T31S |
Missense |
1/16 |
- |
6 |
2-47630421-A-T |
c.91A>T |
p.T31S |
Missense |
1/16 |
- |
4 |
2-47630422-CC-GG |
c.92_93inv |
p.T31R |
Missense |
1/16 |
- |
1 |
2-47630423-C-T |
c.93C>T |
p.T31= |
Synonymous |
1/16 |
- |
1 |
2-47630424-A-G |
c.94A>G |
p.T32A |
Missense |
1/16 |
- |
4 |
2-47630424-ACC-GAG |
c.94_96delinsGAG |
p.T32E |
Missense |
1/16 |
- |
1 |
2-47630424-AC-TG |
c.94_95delinsTG |
p.T32C |
Missense |
1/16 |
- |
1 |
2-47630424-AC-TA |
c.94_95delinsTA |
p.T32Y |
Missense |
1/16 |
- |
1 |
2-47630424-ACC-TGG |
c.94_96delinsTGG |
p.T32W |
Missense |
1/16 |
- |
1 |
2-47630424-AC-GT |
c.94_95inv |
p.T32V |
Missense |
1/16 |
- |
1 |
2-47630424-ACC-CAA |
c.94_96delinsCAA |
p.T32Q |
Missense |
1/16 |
- |
1 |
2-47630424-A-C |
c.94A>C |
p.T32P |
Missense |
1/16 |
- |
4 |
2-47630424-AC-GG |
c.94_95delinsGG |
p.T32G |
Missense |
1/16 |
- |
1 |
2-47630424-AC-GA |
c.94_95delinsGA |
p.T32D |
Missense |
1/16 |
- |
1 |
2-47630424-AC-TT |
c.94_95delinsTT |
p.T32F |
Missense |
1/16 |
- |
1 |
2-47630424-AC-CT |
c.94_95delinsCT |
p.T32L |
Missense |
1/16 |
- |
1 |
2-47630424-AC-CA |
c.94_95delinsCA |
p.T32H |
Missense |
1/16 |
- |
1 |
2-47630422-CCACCACAGTG-C |
c.94_103del |
p.T32Afs*29 |
Frameshift |
1/16 |
- |
3 |
2-47630425-C-G |
c.95C>G |
p.T32S |
Missense |
1/16 |
- |
5 |
2-47630424-A-T |
c.94A>T |
p.T32S |
Missense |
1/16 |
- |
4 |
2-47630425-CC-AG |
c.95_96delinsAG |
p.T32K |
Missense |
1/16 |
- |
1 |
2-47630425-C-A |
c.95C>A |
p.T32N |
Missense |
1/16 |
- |
4 |
2-47630425-C-T |
c.95C>T |
p.T32I |
Missense |
1/16 |
- |
2 |
2-47630425-CC-GG |
c.95_96inv |
p.T32R |
Missense |
1/16 |
- |
1 |
2-47630425-CC-TG |
c.95_96delinsTG |
p.T32M |
Missense |
1/16 |
- |
1 |
2-47630424-A-AC |
c.96dup |
p.T33Hfs*49 |
Frameshift |
1/16 |
- |
1 |
2-47630427-A-C |
c.97A>C |
p.T33P |
Missense |
1/16 |
- |
17 |
2-47630427-A-G |
c.97A>G |
p.T33A |
Missense |
1/16 |
- |
9 |
2-47630427-ACA-GAC |
c.97_99delinsGAC |
p.T33D |
Missense |
1/16 |
- |
1 |
2-47630427-ACA-TGT |
c.97_99inv |
p.T33C |
Missense |
1/16 |
- |
1 |
2-47630427-A-T |
c.97A>T |
p.T33S |
Missense |
1/16 |
- |
2 |
2-47630427-ACA-TAT |
c.97_99delinsTAT |
p.T33Y |
Missense |
1/16 |
- |
1 |
2-47630427-AC-GT |
c.97_98inv |
p.T33V |
Missense |
1/16 |
- |
1 |
2-47630427-ACA-TGG |
c.97_99delinsTGG |
p.T33W |
Missense |
1/16 |
- |
1 |
2-47630427-AC-GG |
c.97_98delinsGG |
p.T33G |
Missense |
1/16 |
- |
1 |
2-47630427-AC-CA |
c.97_98delinsCA |
p.T33Q |
Missense |
1/16 |
- |
1 |
2-47630427-ACA-CAT |
c.97_99delinsCAT |
p.T33H |
Missense |
1/16 |
- |
1 |
2-47630427-AC-CT |
c.97_98delinsCT |
p.T33L |
Missense |
1/16 |
- |
1 |
2-47630427-ACA-TTT |
c.97_99delinsTTT |
p.T33F |
Missense |
1/16 |
- |
1 |
2-47630427-AC-GA |
c.97_98delinsGA |
p.T33E |
Missense |
1/16 |
- |
1 |
2-47630428-CA-AC |
c.98_99delinsAC |
p.T33N |
Missense |
1/16 |
- |
2 |
2-47630428-C-A |
c.98C>A |
p.T33K |
Missense |
1/16 |
- |
2 |
2-47630428-C-G |
c.98C>G |
p.T33R |
Missense |
1/16 |
- |
2 |
2-47630428-CA-TG |
c.98_99inv |
p.T33M |
Missense |
1/16 |
- |
1 |
2-47630428-C-T |
c.98C>T |
p.T33I |
Missense |
1/16 |
- |
3 |
2-47630430-G-T |
c.100G>T |
p.V34L |
Missense |
1/16 |
- |
3 |
2-47630430-GTG-TTT |
c.100_102delinsTTT |
p.V34F |
Missense |
1/16 |
- |
1 |
2-47630430-G-C |
c.100G>C |
p.V34L |
Missense |
1/16 |
- |
3 |
2-47630430-GTG-TAT |
c.100_102delinsTAT |
p.V34Y |
Missense |
1/16 |
- |
1 |
2-47630430-GT-TG |
c.100_101delinsTG |
p.V34W |
Missense |
1/16 |
- |
1 |
2-47630430-GTG-TGT |
c.100_102delinsTGT |
p.V34C |
Missense |
1/16 |
- |
1 |
2-47630430-GT-AC |
c.100_101inv |
p.V34T |
Missense |
1/16 |
- |
1 |
2-47630430-GT-AG |
c.100_101delinsAG |
p.V34R |
Missense |
1/16 |
- |
1 |
2-47630430-GT-TC |
c.100_101delinsTC |
p.V34S |
Missense |
1/16 |
- |
1 |
2-47630430-GT-CA |
c.100_101delinsCA |
p.V34Q |
Missense |
1/16 |
- |
1 |
2-47630430-GTG-AAC |
c.100_102delinsAAC |
p.V34N |
Missense |
1/16 |
- |
1 |
2-47630430-GTG-CAT |
c.100_102delinsCAT |
p.V34H |
Missense |
1/16 |
- |
1 |
2-47630430-G-A |
c.100G>A |
p.V34M |
Missense |
1/16 |
- |
4 |
2-47630430-GT-CC |
c.100_101delinsCC |
p.V34P |
Missense |
1/16 |
- |
1 |
2-47630430-GTG-ATC |
c.100_102delinsATC |
p.V34I |
Missense |
1/16 |
- |
2 |
2-47630430-GT-AA |
c.100_101delinsAA |
p.V34K |
Missense |
1/16 |
- |
1 |
2-47630431-T-A |
c.101T>A |
p.V34E |
Missense |
1/16 |
- |
4 |
2-47630431-T-C |
c.101T>C |
p.V34A |
Missense |
1/16 |
- |
3 |
2-47630431-T-G |
c.101T>G |
p.V34G |
Missense |
1/16 |
- |
2 |
2-47630431-TG-AC |
c.101_102delinsAC |
p.V34D |
Missense |
1/16 |
- |
1 |
2-47630433-C-G |
c.103C>G |
p.R35G |
Missense |
1/16 |
- |
6 |
2-47630433-CG-AT |
c.103_104delinsAT |
p.R35I |
Missense |
1/16 |
- |
1 |
2-47630433-CGC-AAG |
c.103_105delinsAAG |
p.R35K |
Missense |
1/16 |
- |
1 |
2-47630433-CG-TA |
c.103_104delinsTA |
p.R35Y |
Missense |
1/16 |
- |
1 |
2-47630433-CGC-TGG |
c.103_105delinsTGG |
p.R35W |
Missense |
1/16 |
- |
1 |
2-47630433-CG-GT |
c.103_104delinsGT |
p.R35V |
Missense |
1/16 |
- |
1 |
2-47630433-CG-AC |
c.103_104delinsAC |
p.R35T |
Missense |
1/16 |
- |
1 |
2-47630433-C-A |
c.103C>A |
p.R35S |
Missense |
1/16 |
- |
3 |
2-47630433-CG-AA |
c.103_104delinsAA |
p.R35N |
Missense |
1/16 |
- |
1 |
2-47630433-CGC-ATG |
c.103_105delinsATG |
p.R35M |
Missense |
1/16 |
- |
1 |
2-47630433-CG-TT |
c.103_104delinsTT |
p.R35F |
Missense |
1/16 |
- |
1 |
2-47630433-CGC-GAG |
c.103_105delinsGAG |
p.R35E |
Missense |
1/16 |
- |
1 |
2-47630433-CG-GA |
c.103_104delinsGA |
p.R35D |
Missense |
1/16 |
- |
1 |
2-47630433-C-T |
c.103C>T |
p.R35C |
Missense |
1/16 |
- |
5 |
2-47630433-CG-GC |
c.103_104delinsGC |
p.R35A |
Missense |
1/16 |
- |
2 |
2-47630433-CGC-TGA |
c.103_105delinsTGA |
p.R35* |
Nonsense |
1/16 |
- |
1 |
2-47630434-G-A |
c.104G>A |
p.R35H |
Missense |
1/16 |
- |
3 |
2-47630434-G-T |
c.104G>T |
p.R35L |
Missense |
1/16 |
- |
3 |
2-47630434-GC-AA |
c.104_105delinsAA |
p.R35Q |
Missense |
1/16 |
- |
1 |
2-47630434-G-C |
c.104G>C |
p.R35P |
Missense |
1/16 |
- |
2 |
2-47630435-C-A |
c.105C>A |
p.R35= |
Synonymous |
1/16 |
- |
2 |
2-47630435-C-G |
c.105C>G |
p.R35= |
Synonymous |
1/16 |
- |
1 |
2-47630435-C-T |
c.105C>T |
p.R35= |
Synonymous |
1/16 |
- |
1 |
2-47630436-CT-TA |
c.106_107delinsTA |
p.L36Y |
Missense |
1/16 |
- |
1 |
2-47630436-CTT-TGG |
c.106_108delinsTGG |
p.L36W |
Missense |
1/16 |
- |
1 |
2-47630436-C-G |
c.106C>G |
p.L36V |
Missense |
1/16 |
- |
3 |
2-47630436-CT-AC |
c.106_107delinsAC |
p.L36T |
Missense |
1/16 |
- |
1 |
2-47630436-CT-AG |
c.106_107inv |
p.L36S |
Missense |
1/16 |
- |
1 |
2-47630436-CT-AA |
c.106_107delinsAA |
p.L36N |
Missense |
1/16 |
- |
1 |
2-47630436-CTT-ATG |
c.106_108delinsATG |
p.L36M |
Missense |
1/16 |
- |
1 |
2-47630436-CTT-AAG |
c.106_108inv |
p.L36K |
Missense |
1/16 |
- |
1 |
2-47630436-C-A |
c.106C>A |
p.L36I |
Missense |
1/16 |
- |
3 |
2-47630436-CT-GG |
c.106_107delinsGG |
p.L36G |
Missense |
1/16 |
- |
2 |
2-47630436-C-T |
c.106C>T |
p.L36F |
Missense |
1/16 |
- |
2 |
2-47630436-CTT-GAG |
c.106_108delinsGAG |
p.L36E |
Missense |
1/16 |
- |
1 |
2-47630436-CT-GA |
c.106_107delinsGA |
p.L36D |
Missense |
1/16 |
- |
1 |
2-47630436-CT-TG |
c.106_107delinsTG |
p.L36C |
Missense |
1/16 |
- |
1 |
2-47630436-CT-GC |
c.106_107delinsGC |
p.L36A |
Missense |
1/16 |
- |
1 |
2-47630437-T-G |
c.107T>G |
p.L36R |
Missense |
1/16 |
- |
2 |
2-47630437-TT-AA |
c.107_108inv |
p.L36Q |
Missense |
1/16 |
- |
1 |
2-47630437-T-C |
c.107T>C |
p.L36P |
Missense |
1/16 |
- |
2 |
2-47630437-T-A |
c.107T>A |
p.L36H |
Missense |
1/16 |
- |
2 |
2-47630439-T-G |
c.109T>G |
p.F37V |
Missense |
1/16 |
- |
2 |
2-47630439-TTC-CAA |
c.109_111delinsCAA |
p.F37Q |
Missense |
1/16 |
- |
1 |
2-47630439-TT-AC |
c.109_110delinsAC |
p.F37T |
Missense |
1/16 |
- |
1 |
2-47630439-TT-CG |
c.109_110delinsCG |
p.F37R |
Missense |
1/16 |
- |
1 |
2-47630439-T-C |
c.109T>C |
p.F37L |
Missense |
1/16 |
- |
3 |
2-47630441-C-A |
c.111C>A |
p.F37L |
Missense |
1/16 |
- |
5 |
2-47630441-C-G |
c.111C>G |
p.F37L |
Missense |
1/16 |
- |
4 |
2-47630439-TT-GA |
c.109_110delinsGA |
p.F37D |
Missense |
1/16 |
- |
1 |
2-47630439-TT-CC |
c.109_110delinsCC |
p.F37P |
Missense |
1/16 |
- |
1 |
2-47630439-TTC-GAG |
c.109_111delinsGAG |
p.F37E |
Missense |
1/16 |
- |
1 |
2-47630439-TTC-AAG |
c.109_111delinsAAG |
p.F37K |
Missense |
1/16 |
- |
1 |
2-47630439-TT-GG |
c.109_110delinsGG |
p.F37G |
Missense |
1/16 |
- |
1 |
2-47630439-TT-AA |
c.109_110inv |
p.F37N |
Missense |
1/16 |
- |
1 |
2-47630439-TTC-ATG |
c.109_111delinsATG |
p.F37M |
Missense |
1/16 |
- |
1 |
2-47630439-TT-CA |
c.109_110delinsCA |
p.F37H |
Missense |
1/16 |
- |
1 |
2-47630439-TT-GC |
c.109_110delinsGC |
p.F37A |
Missense |
1/16 |
- |
1 |
2-47630439-T-A |
c.109T>A |
p.F37I |
Missense |
1/16 |
- |
2 |
2-47630436-CT-C |
c.110del |
p.F37Sfs*27 |
Frameshift |
1/16 |
- |
9 |
2-47630440-TC-GG |
c.110_111delinsGG |
p.F37W |
Missense |
1/16 |
- |
1 |
2-47630440-T-C |
c.110T>C |
p.F37S |
Missense |
1/16 |
- |
3 |
2-47630440-T-A |
c.110T>A |
p.F37Y |
Missense |
1/16 |
- |
2 |
2-47630440-T-G |
c.110T>G |
p.F37C |
Missense |
1/16 |
- |
3 |
2-47630442-G-T |
c.112G>T |
p.D38Y |
Missense |
1/16 |
- |
7 |
2-47630442-GA-TG |
c.112_113delinsTG |
p.D38C |
Missense |
1/16 |
- |
1 |
2-47630442-G-C |
c.112G>C |
p.D38H |
Missense |
1/16 |
- |
2 |
2-47630442-GA-TT |
c.112_113delinsTT |
p.D38F |
Missense |
1/16 |
- |
1 |
2-47630442-GA-AT |
c.112_113delinsAT |
p.D38I |
Missense |
1/16 |
- |
1 |
2-47630442-GAC-AAG |
c.112_114delinsAAG |
p.D38K |
Missense |
1/16 |
- |
1 |
2-47630442-GA-CG |
c.112_113delinsCG |
p.D38R |
Missense |
1/16 |
- |
1 |
2-47630442-GAC-TGG |
c.112_114delinsTGG |
p.D38W |
Missense |
1/16 |
- |
1 |
2-47630442-GAC-CAA |
c.112_114delinsCAA |
p.D38Q |
Missense |
1/16 |
- |
1 |
2-47630442-GA-AC |
c.112_113delinsAC |
p.D38T |
Missense |
1/16 |
- |
1 |
2-47630442-GA-AG |
c.112_113delinsAG |
p.D38S |
Missense |
1/16 |
- |
1 |
2-47630442-GA-CT |
c.112_113delinsCT |
p.D38L |
Missense |
1/16 |
- |
1 |
2-47630442-GA-CC |
c.112_113delinsCC |
p.D38P |
Missense |
1/16 |
- |
1 |
2-47630442-GAC-ATG |
c.112_114delinsATG |
p.D38M |
Missense |
1/16 |
- |
1 |
2-47630442-G-A |
c.112G>A |
p.D38N |
Missense |
1/16 |
- |
3 |
2-47630440-TCGA-T |
c.112_114del |
p.D38del |
InFrameDeletion |
1/16 |
- |
1 |
2-47630443-A-C |
c.113A>C |
p.D38A |
Missense |
1/16 |
- |
4 |
2-47630443-A-G |
c.113A>G |
p.D38G |
Missense |
1/16 |
- |
2 |
2-47630443-A-T |
c.113A>T |
p.D38V |
Missense |
1/16 |
- |
2 |
2-47630444-C-G |
c.114C>G |
p.D38E |
Missense |
1/16 |
- |
6 |
2-47630444-C-A |
c.114C>A |
p.D38E |
Missense |
1/16 |
- |
2 |
2-47630445-CG-GA |
c.115_116delinsGA |
p.R39E |
Missense |
1/16 |
- |
2 |
2-47630445-C-A |
c.115C>A |
p.R39= |
Synonymous |
1/16 |
- |
3 |
2-47630445-CGG-ATC |
c.115_117delinsATC |
p.R39I |
Missense |
1/16 |
- |
2 |
2-47630445-CGG-AAC |
c.115_117delinsAAC |
p.R39N |
Missense |
1/16 |
- |
1 |
2-47630445-CG-AA |
c.115_116delinsAA |
p.R39K |
Missense |
1/16 |
- |
1 |
2-47630445-CGG-TGT |
c.115_117delinsTGT |
p.R39C |
Missense |
1/16 |
- |
1 |
2-47630445-CGG-TTT |
c.115_117delinsTTT |
p.R39F |
Missense |
1/16 |
- |
1 |
2-47630445-C-G |
c.115C>G |
p.R39G |
Missense |
1/16 |
- |
3 |
2-47630445-CG-AT |
c.115_116delinsAT |
p.R39M |
Missense |
1/16 |
- |
1 |
2-47630445-CGG-GAC |
c.115_117delinsGAC |
p.R39D |
Missense |
1/16 |
- |
1 |
2-47630445-CG-AC |
c.115_116delinsAC |
p.R39T |
Missense |
1/16 |
- |
1 |
2-47630445-CG-GT |
c.115_116delinsGT |
p.R39V |
Missense |
1/16 |
- |
1 |
2-47630445-CGG-AGC |
c.115_117delinsAGC |
p.R39S |
Missense |
1/16 |
- |
2 |
2-47630445-C-T |
c.115C>T |
p.R39W |
Missense |
1/16 |
- |
2 |
2-47630445-CGG-TAT |
c.115_117delinsTAT |
p.R39Y |
Missense |
1/16 |
- |
1 |
2-47630445-CG-GC |
c.115_116delinsGC |
p.R39A |
Missense |
1/16 |
- |
2 |
2-47630440-TCGACCGGGG-T |
c.115_123del |
p.R39_D41del |
InFrameDeletion |
1/16 |
- |
2 |
2-47630443-AC-A |
c.115del |
p.R39Gfs*25 |
Frameshift |
1/16 |
- |
1 |
2-47630446-GG-AT |
c.116_117delinsAT |
p.R39H |
Missense |
1/16 |
- |
1 |
2-47630446-G-A |
c.116G>A |
p.R39Q |
Missense |
1/16 |
- |
3 |
2-47630446-G-C |
c.116G>C |
p.R39P |
Missense |
1/16 |
- |
5 |
2-47630446-G-T |
c.116G>T |
p.R39L |
Missense |
1/16 |
- |
3 |
2-47630448-G-A |
c.118G>A |
p.G40S |
Missense |
1/16 |
- |
24 |
2-47630448-G-C |
c.118G>C |
p.G40R |
Missense |
1/16 |
- |
2 |
2-47630448-GGC-CAA |
c.118_120delinsCAA |
p.G40Q |
Missense |
1/16 |
- |
1 |
2-47630448-GG-TT |
c.118_119delinsTT |
p.G40F |
Missense |
1/16 |
- |
1 |
2-47630448-GG-CC |
c.118_119inv |
p.G40P |
Missense |
1/16 |
- |
1 |
2-47630448-GG-AA |
c.118_119delinsAA |
p.G40N |
Missense |
1/16 |
- |
1 |
2-47630448-GGC-ATG |
c.118_120delinsATG |
p.G40M |
Missense |
1/16 |
- |
1 |
2-47630448-G-T |
c.118G>T |
p.G40C |
Missense |
1/16 |
- |
2 |
2-47630448-GG-CT |
c.118_119delinsCT |
p.G40L |
Missense |
1/16 |
- |
1 |
2-47630448-GGC-AAG |
c.118_120delinsAAG |
p.G40K |
Missense |
1/16 |
- |
1 |
2-47630448-GG-AT |
c.118_119delinsAT |
p.G40I |
Missense |
1/16 |
- |
1 |
2-47630448-GG-CA |
c.118_119delinsCA |
p.G40H |
Missense |
1/16 |
- |
1 |
2-47630448-GG-AC |
c.118_119delinsAC |
p.G40T |
Missense |
1/16 |
- |
1 |
2-47630448-GGC-TGG |
c.118_120delinsTGG |
p.G40W |
Missense |
1/16 |
- |
1 |
2-47630448-GG-TA |
c.118_119delinsTA |
p.G40Y |
Missense |
1/16 |
- |
1 |
2-47630448-GGC-TGA |
c.118_120delinsTGA |
p.G40* |
Nonsense |
1/16 |
- |
1 |
2-47630449-G-C |
c.119G>C |
p.G40A |
Missense |
1/16 |
- |
4 |
2-47630445-CG-C |
c.119del |
p.G40Afs*24 |
Frameshift |
1/16 |
- |
6 |
2-47630449-GC-AG |
c.119_120delinsAG |
p.G40E |
Missense |
1/16 |
- |
1 |
2-47630449-G-A |
c.119G>A |
p.G40D |
Missense |
1/16 |
- |
3 |
2-47630449-G-T |
c.119G>T |
p.G40V |
Missense |
1/16 |
- |
3 |
2-47630450-C-T |
c.120C>T |
p.G40= |
Synonymous |
1/16 |
- |
2 |
2-47630451-G-T |
c.121G>T |
p.D41Y |
Missense |
1/16 |
- |
3 |
2-47630451-GAC-TGG |
c.121_123delinsTGG |
p.D41W |
Missense |
1/16 |
- |
1 |
2-47630451-GA-AC |
c.121_122delinsAC |
p.D41T |
Missense |
1/16 |
- |
1 |
2-47630451-GA-AG |
c.121_122delinsAG |
p.D41S |
Missense |
1/16 |
- |
1 |
2-47630451-GA-CG |
c.121_122delinsCG |
p.D41R |
Missense |
1/16 |
- |
1 |
2-47630451-GA-TG |
c.121_122delinsTG |
p.D41C |
Missense |
1/16 |
- |
1 |
2-47630451-GAC-CAA |
c.121_123delinsCAA |
p.D41Q |
Missense |
1/16 |
- |
1 |
2-47630451-GA-CC |
c.121_122delinsCC |
p.D41P |
Missense |
1/16 |
- |
1 |
2-47630451-G-A |
c.121G>A |
p.D41N |
Missense |
1/16 |
- |
2 |
2-47630451-GAC-ATG |
c.121_123delinsATG |
p.D41M |
Missense |
1/16 |
- |
1 |
2-47630451-GA-TT |
c.121_122delinsTT |
p.D41F |
Missense |
1/16 |
- |
1 |
2-47630451-G-C |
c.121G>C |
p.D41H |
Missense |
1/16 |
- |
3 |
2-47630451-GA-CT |
c.121_122delinsCT |
p.D41L |
Missense |
1/16 |
- |
1 |
2-47630451-GAC-AAG |
c.121_123delinsAAG |
p.D41K |
Missense |
1/16 |
- |
1 |
2-47630451-GA-AT |
c.121_122delinsAT |
p.D41I |
Missense |
1/16 |
- |
1 |
2-47630452-A-G |
c.122A>G |
p.D41G |
Missense |
1/16 |
- |
4 |
2-47630452-A-T |
c.122A>T |
p.D41V |
Missense |
1/16 |
- |
3 |
2-47630452-A-C |
c.122A>C |
p.D41A |
Missense |
1/16 |
- |
2 |
2-47630453-C-G |
c.123C>G |
p.D41E |
Missense |
1/16 |
- |
6 |
2-47630453-C-A |
c.123C>A |
p.D41E |
Missense |
1/16 |
- |
2 |
2-47630454-TT-CA |
c.124_125delinsCA |
p.F42H |
Missense |
1/16 |
- |
1 |
2-47630454-TT-GG |
c.124_125delinsGG |
p.F42G |
Missense |
1/16 |
- |
1 |
2-47630454-TTC-GAG |
c.124_126delinsGAG |
p.F42E |
Missense |
1/16 |
- |
1 |
2-47630454-TT-GA |
c.124_125delinsGA |
p.F42D |
Missense |
1/16 |
- |
1 |
2-47630454-TT-GC |
c.124_125delinsGC |
p.F42A |
Missense |
1/16 |
- |
1 |
2-47630454-T-A |
c.124T>A |
p.F42I |
Missense |
1/16 |
- |
2 |
2-47630454-TT-CG |
c.124_125delinsCG |
p.F42R |
Missense |
1/16 |
- |
1 |
2-47630454-T-C |
c.124T>C |
p.F42L |
Missense |
1/16 |
- |
5 |
2-47630456-C-A |
c.126C>A |
p.F42L |
Missense |
1/16 |
- |
4 |
2-47630454-TT-CC |
c.124_125delinsCC |
p.F42P |
Missense |
1/16 |
- |
1 |
2-47630454-TTC-AAG |
c.124_126delinsAAG |
p.F42K |
Missense |
1/16 |
- |
1 |
2-47630454-T-G |
c.124T>G |
p.F42V |
Missense |
1/16 |
- |
2 |
2-47630454-TT-AA |
c.124_125inv |
p.F42N |
Missense |
1/16 |
- |
1 |
2-47630454-TT-AC |
c.124_125delinsAC |
p.F42T |
Missense |
1/16 |
- |
1 |
2-47630454-TTC-ATG |
c.124_126delinsATG |
p.F42M |
Missense |
1/16 |
- |
1 |
2-47630454-TTC-CAA |
c.124_126delinsCAA |
p.F42Q |
Missense |
1/16 |
- |
1 |
2-47630455-T-G |
c.125T>G |
p.F42C |
Missense |
1/16 |
- |
2 |
2-47630455-T-C |
c.125T>C |
p.F42S |
Missense |
1/16 |
- |
2 |
2-47630455-TC-GG |
c.125_126delinsGG |
p.F42W |
Missense |
1/16 |
- |
1 |
2-47630455-T-A |
c.125T>A |
p.F42Y |
Missense |
1/16 |
- |
2 |
2-47630456-C-G |
c.126C>G |
p.F42L |
Missense |
1/16 |
- |
7 |
2-47630457-TAT-GAG |
c.127_129delinsGAG |
p.Y43E |
Missense |
1/16 |
- |
1 |
2-47630457-T-G |
c.127T>G |
p.Y43D |
Missense |
1/16 |
- |
3 |
2-47630457-TA-GC |
c.127_128delinsGC |
p.Y43A |
Missense |
1/16 |
- |
2 |
2-47630457-TA-AC |
c.127_128delinsAC |
p.Y43T |
Missense |
1/16 |
- |
1 |
2-47630457-TA-CC |
c.127_128delinsCC |
p.Y43P |
Missense |
1/16 |
- |
1 |
2-47630457-TA-GT |
c.127_128delinsGT |
p.Y43V |
Missense |
1/16 |
- |
1 |
2-47630457-TAT-ATG |
c.127_129delinsATG |
p.Y43M |
Missense |
1/16 |
- |
1 |
2-47630457-TA-CG |
c.127_128delinsCG |
p.Y43R |
Missense |
1/16 |
- |
1 |
2-47630457-TAT-CAA |
c.127_129delinsCAA |
p.Y43Q |
Missense |
1/16 |
- |
1 |
2-47630457-TAT-AAG |
c.127_129delinsAAG |
p.Y43K |
Missense |
1/16 |
- |
1 |
2-47630457-T-A |
c.127T>A |
p.Y43N |
Missense |
1/16 |
- |
2 |
2-47630457-TA-AT |
c.127_128delinsAT |
p.Y43I |
Missense |
1/16 |
- |
1 |
2-47630457-T-C |
c.127T>C |
p.Y43H |
Missense |
1/16 |
- |
3 |
2-47630457-TA-GG |
c.127_128delinsGG |
p.Y43G |
Missense |
1/16 |
- |
1 |
2-47630457-TA-CT |
c.127_128delinsCT |
p.Y43L |
Missense |
1/16 |
- |
1 |
2-47630457-CT-C |
c.127del |
p.Y43Ifs*21 |
Frameshift |
1/16 |
- |
1 |
2-47630458-A-G |
c.128A>G |
p.Y43C |
Missense |
1/16 |
- |
23 |
2-47630458-A-T |
c.128A>T |
p.Y43F |
Missense |
1/16 |
- |
3 |
2-47630458-AT-GG |
c.128_129delinsGG |
p.Y43W |
Missense |
1/16 |
- |
1 |
2-47630458-A-C |
c.128A>C |
p.Y43S |
Missense |
1/16 |
- |
2 |
2-47630459-T-C |
c.129T>C |
p.Y43= |
Synonymous |
1/16 |
- |
1 |
2-47630459-T-G |
c.129T>G |
p.Y43* |
Nonsense |
1/16 |
- |
4 |
2-47630459-T-A |
c.129T>A |
p.Y43* |
Nonsense |
1/16 |
- |
1 |
2-47630460-A-G |
c.130A>G |
p.T44A |
Missense |
1/16 |
- |
3 |
2-47630460-AC-CT |
c.130_131delinsCT |
p.T44L |
Missense |
1/16 |
- |
1 |
2-47630460-A-T |
c.130A>T |
p.T44S |
Missense |
1/16 |
- |
2 |
2-47630460-ACG-CAT |
c.130_132delinsCAT |
p.T44H |
Missense |
1/16 |
- |
1 |
2-47630460-AC-GA |
c.130_131delinsGA |
p.T44E |
Missense |
1/16 |
- |
1 |
2-47630460-AC-TG |
c.130_131delinsTG |
p.T44W |
Missense |
1/16 |
- |
1 |
2-47630460-ACG-TAT |
c.130_132delinsTAT |
p.T44Y |
Missense |
1/16 |
- |
1 |
2-47630460-ACG-TGT |
c.130_132delinsTGT |
p.T44C |
Missense |
1/16 |
- |
1 |
2-47630460-AC-GG |
c.130_131delinsGG |
p.T44G |
Missense |
1/16 |
- |
1 |
2-47630460-A-C |
c.130A>C |
p.T44P |
Missense |
1/16 |
- |
2 |
2-47630460-AC-CA |
c.130_131delinsCA |
p.T44Q |
Missense |
1/16 |
- |
1 |
2-47630460-ACG-GAC |
c.130_132delinsGAC |
p.T44D |
Missense |
1/16 |
- |
1 |
2-47630460-AC-GT |
c.130_131inv |
p.T44V |
Missense |
1/16 |
- |
1 |
2-47630460-ACG-TTT |
c.130_132delinsTTT |
p.T44F |
Missense |
1/16 |
- |
1 |
2-47630461-C-T |
c.131C>T |
p.T44M |
Missense |
1/16 |
- |
9 |
2-47630461-CG-TC |
c.131_132delinsTC |
p.T44I |
Missense |
1/16 |
- |
1 |
2-47630461-CG-AC |
c.131_132delinsAC |
p.T44N |
Missense |
1/16 |
- |
1 |
2-47630461-C-G |
c.131C>G |
p.T44R |
Missense |
1/16 |
- |
2 |
2-47630461-C-A |
c.131C>A |
p.T44K |
Missense |
1/16 |
- |
3 |
2-47630462-G-C |
c.132G>C |
p.T44= |
Synonymous |
1/16 |
- |
2 |
2-47630462-G-A |
c.132G>A |
p.T44= |
Synonymous |
1/16 |
- |
1 |
2-47630462-G-T |
c.132G>T |
p.T44= |
Synonymous |
1/16 |
- |
1 |
2-47630463-G-A |
c.133G>A |
p.A45T |
Missense |
1/16 |
- |
4 |
2-47630463-GC-CT |
c.133_134delinsCT |
p.A45L |
Missense |
1/16 |
- |
1 |
2-47630463-GC-AT |
c.133_134delinsAT |
p.A45M |
Missense |
1/16 |
- |
1 |
2-47630463-GC-CA |
c.133_134delinsCA |
p.A45Q |
Missense |
1/16 |
- |
1 |
2-47630463-G-C |
c.133G>C |
p.A45P |
Missense |
1/16 |
- |
2 |
2-47630463-GCG-AAC |
c.133_135delinsAAC |
p.A45N |
Missense |
1/16 |
- |
1 |
2-47630463-GCG-ATC |
c.133_135delinsATC |
p.A45I |
Missense |
1/16 |
- |
1 |
2-47630463-GCG-CAT |
c.133_135delinsCAT |
p.A45H |
Missense |
1/16 |
- |
1 |
2-47630463-GC-AA |
c.133_134delinsAA |
p.A45K |
Missense |
1/16 |
- |
1 |
2-47630463-GCG-TGT |
c.133_135delinsTGT |
p.A45C |
Missense |
1/16 |
- |
1 |
2-47630463-GCG-TTT |
c.133_135delinsTTT |
p.A45F |
Missense |
1/16 |
- |
2 |
2-47630463-GC-AG |
c.133_134delinsAG |
p.A45R |
Missense |
1/16 |
- |
1 |
2-47630463-G-T |
c.133G>T |
p.A45S |
Missense |
1/16 |
- |
2 |
2-47630463-GC-TG |
c.133_134delinsTG |
p.A45W |
Missense |
1/16 |
- |
1 |
2-47630463-GCG-TAT |
c.133_135delinsTAT |
p.A45Y |
Missense |
1/16 |
- |
1 |
2-47630461-C-CG |
c.133dup |
p.A45Gfs*37 |
Frameshift |
1/16 |
- |
1 |
2-47630464-C-T |
c.134C>T |
p.A45V |
Missense |
1/16 |
- |
12 |
2-47630464-C-A |
c.134C>A |
p.A45E |
Missense |
1/16 |
- |
3 |
2-47630464-CG-AC |
c.134_135delinsAC |
p.A45D |
Missense |
1/16 |
- |
1 |
2-47630464-C-G |
c.134C>G |
p.A45G |
Missense |
1/16 |
- |
4 |
2-47630463-GCGCACGGCGAGGACGCGCTGCTGGCCGCC-G |
c.136_164del |
p.H46Gfs*26 |
Frameshift |
1/16 |
- |
4 |
2-47630466-C-T |
c.136C>T |
p.H46Y |
Missense |
1/16 |
- |
3 |
2-47630466-CAC-TGG |
c.136_138delinsTGG |
p.H46W |
Missense |
1/16 |
- |
1 |
2-47630466-CA-GT |
c.136_137delinsGT |
p.H46V |
Missense |
1/16 |
- |
1 |
2-47630466-CA-AC |
c.136_137delinsAC |
p.H46T |
Missense |
1/16 |
- |
1 |
2-47630466-CA-AG |
c.136_137delinsAG |
p.H46S |
Missense |
1/16 |
- |
1 |
2-47630466-C-A |
c.136C>A |
p.H46N |
Missense |
1/16 |
- |
2 |
2-47630466-CAC-ATG |
c.136_138delinsATG |
p.H46M |
Missense |
1/16 |
- |
1 |
2-47630466-CAC-AAG |
c.136_138delinsAAG |
p.H46K |
Missense |
1/16 |
- |
1 |
2-47630466-CA-AT |
c.136_137delinsAT |
p.H46I |
Missense |
1/16 |
- |
1 |
2-47630466-CA-GG |
c.136_137delinsGG |
p.H46G |
Missense |
1/16 |
- |
2 |
2-47630466-CA-TT |
c.136_137delinsTT |
p.H46F |
Missense |
1/16 |
- |
1 |
2-47630466-CAC-GAG |
c.136_138delinsGAG |
p.H46E |
Missense |
1/16 |
- |
1 |
2-47630466-C-G |
c.136C>G |
p.H46D |
Missense |
1/16 |
- |
2 |
2-47630466-CA-TG |
c.136_137inv |
p.H46C |
Missense |
1/16 |
- |
1 |
2-47630466-CA-GC |
c.136_137delinsGC |
p.H46A |
Missense |
1/16 |
- |
1 |
2-47630465-G-GC |
c.136dup |
p.H46Pfs*36 |
Frameshift |
1/16 |
- |
1 |
2-47630467-A-G |
c.137A>G |
p.H46R |
Missense |
1/16 |
- |
3 |
2-47630467-A-C |
c.137A>C |
p.H46P |
Missense |
1/16 |
- |
3 |
2-47630467-A-T |
c.137A>T |
p.H46L |
Missense |
1/16 |
- |
2 |
2-47630468-C-G |
c.138C>G |
p.H46Q |
Missense |
1/16 |
- |
23 |
2-47630468-C-T |
c.138C>T |
p.H46= |
Synonymous |
1/16 |
- |
5 |
2-47630468-C-A |
c.138C>A |
p.H46Q |
Missense |
1/16 |
- |
7 |
2-47630468-C-CTCTTG |
c.138_139insTCTTG |
p.G47Sfs*19 |
Frameshift |
1/16 |
- |
1 |
2-47630469-GG-AA |
c.139_140delinsAA |
p.G47N |
Missense |
1/16 |
- |
1 |
2-47630469-GGC-ATG |
c.139_141delinsATG |
p.G47M |
Missense |
1/16 |
- |
1 |
2-47630469-GG-CT |
c.139_140delinsCT |
p.G47L |
Missense |
1/16 |
- |
1 |
2-47630469-GGC-AAG |
c.139_141delinsAAG |
p.G47K |
Missense |
1/16 |
- |
1 |
2-47630469-GG-AT |
c.139_140delinsAT |
p.G47I |
Missense |
1/16 |
- |
1 |
2-47630469-GG-CA |
c.139_140delinsCA |
p.G47H |
Missense |
1/16 |
- |
1 |
2-47630469-GG-TT |
c.139_140delinsTT |
p.G47F |
Missense |
1/16 |
- |
1 |
2-47630469-G-T |
c.139G>T |
p.G47C |
Missense |
1/16 |
- |
2 |
2-47630469-GG-AC |
c.139_140delinsAC |
p.G47T |
Missense |
1/16 |
- |
1 |
2-47630469-G-A |
c.139G>A |
p.G47S |
Missense |
1/16 |
- |
3 |
2-47630469-G-C |
c.139G>C |
p.G47R |
Missense |
1/16 |
- |
3 |
2-47630469-GGC-CAA |
c.139_141delinsCAA |
p.G47Q |
Missense |
1/16 |
- |
1 |
2-47630469-GG-CC |
c.139_140inv |
p.G47P |
Missense |
1/16 |
- |
1 |
2-47630469-GG-TA |
c.139_140delinsTA |
p.G47Y |
Missense |
1/16 |
- |
1 |
2-47630469-GGC-TGG |
c.139_141delinsTGG |
p.G47W |
Missense |
1/16 |
- |
1 |
2-47630469-G-GTTAGCTGGGACCAC |
c.139_140insTTAGCTGGGACCAC |
p.G47Vfs*22 |
Frameshift |
1/16 |
- |
1 |
2-47630470-G-C |
c.140G>C |
p.G47A |
Missense |
1/16 |
- |
3 |
2-47630470-GC-AG |
c.140_141delinsAG |
p.G47E |
Missense |
1/16 |
- |
1 |
2-47630470-G-A |
c.140G>A |
p.G47D |
Missense |
1/16 |
- |
3 |
2-47630470-G-T |
c.140G>T |
p.G47V |
Missense |
1/16 |
- |
2 |
2-47630467-ACGGCGAGGACG-A |
c.140_150del |
p.G47Afs*31 |
Frameshift |
1/16 |
- |
1 |
2-47630471-GCGAGGACGCGCTGC-G |
c.141_154del |
p.E48Gfs*29 |
Frameshift |
1/16 |
- |
1 |
2-47630472-G-T |
c.142G>T |
p.E48* |
Nonsense |
1/16 |
- |
12 |
2-47630472-G-A |
c.142G>A |
p.E48K |
Missense |
1/16 |
- |
4 |
2-47630472-GAG-TTT |
c.142_144delinsTTT |
p.E48F |
Missense |
1/16 |
- |
1 |
2-47630472-GAG-TGT |
c.142_144delinsTGT |
p.E48C |
Missense |
1/16 |
- |
1 |
2-47630472-GAG-ATC |
c.142_144delinsATC |
p.E48I |
Missense |
1/16 |
- |
1 |
2-47630472-GAG-TAT |
c.142_144delinsTAT |
p.E48Y |
Missense |
1/16 |
- |
1 |
2-47630472-GA-AG |
c.142_143delinsAG |
p.E48R |
Missense |
1/16 |
- |
1 |
2-47630472-GA-CC |
c.142_143delinsCC |
p.E48P |
Missense |
1/16 |
- |
1 |
2-47630472-GAG-AAC |
c.142_144delinsAAC |
p.E48N |
Missense |
1/16 |
- |
1 |
2-47630472-GAG-CAT |
c.142_144delinsCAT |
p.E48H |
Missense |
1/16 |
- |
1 |
2-47630472-G-C |
c.142G>C |
p.E48Q |
Missense |
1/16 |
- |
2 |
2-47630472-GA-TG |
c.142_143delinsTG |
p.E48W |
Missense |
1/16 |
- |
1 |
2-47630472-GA-CT |
c.142_143delinsCT |
p.E48L |
Missense |
1/16 |
- |
1 |
2-47630472-GA-AC |
c.142_143delinsAC |
p.E48T |
Missense |
1/16 |
- |
1 |
2-47630472-GA-AT |
c.142_143delinsAT |
p.E48M |
Missense |
1/16 |
- |
1 |
2-47630472-GA-TC |
c.142_143inv |
p.E48S |
Missense |
1/16 |
- |
1 |
2-47630473-A-G |
c.143A>G |
p.E48G |
Missense |
1/16 |
- |
4 |
2-47630473-A-C |
c.143A>C |
p.E48A |
Missense |
1/16 |
- |
4 |
2-47630473-A-T |
c.143A>T |
p.E48V |
Missense |
1/16 |
- |
2 |
2-47630474-G-A |
c.144G>A |
p.E48= |
Synonymous |
1/16 |
- |
2 |
2-47630474-G-C |
c.144G>C |
p.E48D |
Missense |
1/16 |
- |
2 |
2-47630474-G-T |
c.144G>T |
p.E48D |
Missense |
1/16 |
- |
2 |
2-47630473-AGGAC-A |
c.145_148del |
p.D49Rfs*14 |
Frameshift |
1/16 |
- |
2 |
2-47630475-G-A |
c.145G>A |
p.D49N |
Missense |
1/16 |
- |
5 |
2-47630475-G-T |
c.145G>T |
p.D49Y |
Missense |
1/16 |
- |
2 |
2-47630475-G-C |
c.145G>C |
p.D49H |
Missense |
1/16 |
- |
5 |
2-47630475-GA-CC |
c.145_146delinsCC |
p.D49P |
Missense |
1/16 |
- |
1 |
2-47630475-GA-AG |
c.145_146delinsAG |
p.D49S |
Missense |
1/16 |
- |
1 |
2-47630475-GAC-ATG |
c.145_147delinsATG |
p.D49M |
Missense |
1/16 |
- |
1 |
2-47630475-GA-AC |
c.145_146delinsAC |
p.D49T |
Missense |
1/16 |
- |
2 |
2-47630475-GA-CG |
c.145_146delinsCG |
p.D49R |
Missense |
1/16 |
- |
2 |
2-47630475-GAC-AAG |
c.145_147delinsAAG |
p.D49K |
Missense |
1/16 |
- |
1 |
2-47630475-GAC-CAA |
c.145_147delinsCAA |
p.D49Q |
Missense |
1/16 |
- |
1 |
2-47630475-GAC-TGG |
c.145_147delinsTGG |
p.D49W |
Missense |
1/16 |
- |
1 |
2-47630475-GA-AT |
c.145_146delinsAT |
p.D49I |
Missense |
1/16 |
- |
1 |
2-47630475-GA-TG |
c.145_146delinsTG |
p.D49C |
Missense |
1/16 |
- |
1 |
2-47630475-GA-CT |
c.145_146delinsCT |
p.D49L |
Missense |
1/16 |
- |
1 |
2-47630475-GA-TT |
c.145_146delinsTT |
p.D49F |
Missense |
1/16 |
- |
1 |
2-47630473-AG-A |
c.145del |
p.D49Tfs*15 |
Frameshift |
1/16 |
- |
4 |
2-47630475-GGA-G |
c.145_146del |
p.D49Rfs*32 |
Frameshift |
1/16 |
- |
3 |
2-47630476-A-T |
c.146A>T |
p.D49V |
Missense |
1/16 |
- |
8 |
2-47630476-A-G |
c.146A>G |
p.D49G |
Missense |
1/16 |
- |
3 |
2-47630476-A-C |
c.146A>C |
p.D49A |
Missense |
1/16 |
- |
2 |
2-47630477-C-G |
c.147C>G |
p.D49E |
Missense |
1/16 |
- |
5 |
2-47630477-C-A |
c.147C>A |
p.D49E |
Missense |
1/16 |
- |
2 |
2-47630477-C-T |
c.147C>T |
p.D49= |
Synonymous |
1/16 |
- |
1 |
2-47630478-GC-TG |
c.148_149delinsTG |
p.A50W |
Missense |
1/16 |
- |
1 |
2-47630478-G-T |
c.148G>T |
p.A50S |
Missense |
1/16 |
- |
3 |
2-47630478-GC-CA |
c.148_149delinsCA |
p.A50Q |
Missense |
1/16 |
- |
1 |
2-47630478-G-A |
c.148G>A |
p.A50T |
Missense |
1/16 |
- |
2 |
2-47630478-GC-AG |
c.148_149delinsAG |
p.A50R |
Missense |
1/16 |
- |
1 |
2-47630478-GCG-TTT |
c.148_150delinsTTT |
p.A50F |
Missense |
1/16 |
- |
1 |
2-47630478-GCG-ATC |
c.148_150delinsATC |
p.A50I |
Missense |
1/16 |
- |
1 |
2-47630478-GCG-CAT |
c.148_150delinsCAT |
p.A50H |
Missense |
1/16 |
- |
1 |
2-47630478-GC-AA |
c.148_149delinsAA |
p.A50K |
Missense |
1/16 |
- |
1 |
2-47630478-G-C |
c.148G>C |
p.A50P |
Missense |
1/16 |
- |
2 |
2-47630478-GCG-TAT |
c.148_150delinsTAT |
p.A50Y |
Missense |
1/16 |
- |
1 |
2-47630478-GCG-TGT |
c.148_150delinsTGT |
p.A50C |
Missense |
1/16 |
- |
2 |
2-47630478-GC-AT |
c.148_149delinsAT |
p.A50M |
Missense |
1/16 |
- |
1 |
2-47630478-GCG-AAC |
c.148_150delinsAAC |
p.A50N |
Missense |
1/16 |
- |
1 |
2-47630478-GC-CT |
c.148_149delinsCT |
p.A50L |
Missense |
1/16 |
- |
2 |
2-47630479-C-T |
c.149C>T |
p.A50V |
Missense |
1/16 |
- |
2 |
2-47630479-C-G |
c.149C>G |
p.A50G |
Missense |
1/16 |
- |
4 |
2-47630479-C-A |
c.149C>A |
p.A50E |
Missense |
1/16 |
- |
3 |
2-47630479-CG-AC |
c.149_150delinsAC |
p.A50D |
Missense |
1/16 |
- |
2 |
2-47630480-G-A |
c.150G>A |
p.A50= |
Synonymous |
1/16 |
- |
1 |
2-47630481-CT-TC |
c.151_152delinsTC |
p.L51S |
Missense |
1/16 |
- |
2 |
2-47630481-CT-TG |
c.151_152delinsTG |
p.L51W |
Missense |
1/16 |
- |
1 |
2-47630481-CT-AA |
c.151_152delinsAA |
p.L51K |
Missense |
1/16 |
- |
1 |
2-47630481-CTG-AAC |
c.151_153delinsAAC |
p.L51N |
Missense |
1/16 |
- |
1 |
2-47630481-CT-GG |
c.151_152delinsGG |
p.L51G |
Missense |
1/16 |
- |
1 |
2-47630481-CT-AC |
c.151_152delinsAC |
p.L51T |
Missense |
1/16 |
- |
1 |
2-47630481-CTG-GAC |
c.151_153delinsGAC |
p.L51D |
Missense |
1/16 |
- |
1 |
2-47630481-CTG-TGT |
c.151_153delinsTGT |
p.L51C |
Missense |
1/16 |
- |
1 |
2-47630481-CTG-ATC |
c.151_153delinsATC |
p.L51I |
Missense |
1/16 |
- |
1 |
2-47630481-CTG-TTT |
c.151_153delinsTTT |
p.L51F |
Missense |
1/16 |
- |
2 |
2-47630481-C-A |
c.151C>A |
p.L51M |
Missense |
1/16 |
- |
2 |
2-47630481-CTG-TAT |
c.151_153delinsTAT |
p.L51Y |
Missense |
1/16 |
- |
1 |
2-47630481-CT-GC |
c.151_152delinsGC |
p.L51A |
Missense |
1/16 |
- |
1 |
2-47630481-C-G |
c.151C>G |
p.L51V |
Missense |
1/16 |
- |
2 |
2-47630481-CT-GA |
c.151_152delinsGA |
p.L51E |
Missense |
1/16 |
- |
1 |
2-47630481-C-CT |
c.152dup |
p.L52Afs*30 |
Frameshift |
1/16 |
- |
1 |
2-47630482-T-C |
c.152T>C |
p.L51P |
Missense |
1/16 |
- |
3 |
2-47630482-T-G |
c.152T>G |
p.L51R |
Missense |
1/16 |
- |
3 |
2-47630482-TG-AT |
c.152_153delinsAT |
p.L51H |
Missense |
1/16 |
- |
1 |
2-47630482-T-A |
c.152T>A |
p.L51Q |
Missense |
1/16 |
- |
2 |
2-47630483-G-GTAAA |
c.153_154insTAAA |
p.L52* |
Nonsense |
1/16 |
- |
1 |
2-47630482-T-TG |
c.153dup |
p.L52Afs*30 |
Frameshift |
1/16 |
- |
1 |
2-47630484-CTG-AAC |
c.154_156delinsAAC |
p.L52N |
Missense |
1/16 |
- |
1 |
2-47630484-CT-AA |
c.154_155delinsAA |
p.L52K |
Missense |
1/16 |
- |
1 |
2-47630484-C-A |
c.154C>A |
p.L52M |
Missense |
1/16 |
- |
3 |
2-47630484-CT-GC |
c.154_155delinsGC |
p.L52A |
Missense |
1/16 |
- |
2 |
2-47630484-CT-AC |
c.154_155delinsAC |
p.L52T |
Missense |
1/16 |
- |
1 |
2-47630484-C-G |
c.154C>G |
p.L52V |
Missense |
1/16 |
- |
3 |
2-47630484-CT-GA |
c.154_155delinsGA |
p.L52E |
Missense |
1/16 |
- |
1 |
2-47630484-CTG-TTT |
c.154_156delinsTTT |
p.L52F |
Missense |
1/16 |
- |
2 |
2-47630484-CTG-TGT |
c.154_156delinsTGT |
p.L52C |
Missense |
1/16 |
- |
1 |
2-47630484-CT-GG |
c.154_155delinsGG |
p.L52G |
Missense |
1/16 |
- |
1 |
2-47630484-CTG-ATC |
c.154_156delinsATC |
p.L52I |
Missense |
1/16 |
- |
1 |
2-47630484-CTG-TAT |
c.154_156delinsTAT |
p.L52Y |
Missense |
1/16 |
- |
1 |
2-47630484-CT-TG |
c.154_155delinsTG |
p.L52W |
Missense |
1/16 |
- |
1 |
2-47630484-CTG-GAC |
c.154_156delinsGAC |
p.L52D |
Missense |
1/16 |
- |
1 |
2-47630484-CT-TC |
c.154_155delinsTC |
p.L52S |
Missense |
1/16 |
- |
1 |
2-47630484-C-CG |
c.154_155insG |
p.L52Rfs*30 |
Frameshift |
1/16 |
- |
3 |
2-47630485-T-G |
c.155T>G |
p.L52R |
Missense |
1/16 |
- |
3 |
2-47630485-T-C |
c.155T>C |
p.L52P |
Missense |
1/16 |
- |
3 |
2-47630485-T-A |
c.155T>A |
p.L52Q |
Missense |
1/16 |
- |
2 |
2-47630485-TG-AT |
c.155_156delinsAT |
p.L52H |
Missense |
1/16 |
- |
1 |
2-47630482-TGCTG-T |
c.155_158del |
p.L52Pfs*11 |
Frameshift |
1/16 |
- |
1 |
2-47630484-C-T |
c.154C>T |
p.L52= |
Synonymous |
1/16 |
- |
2 |
2-47630487-G-A |
c.157G>A |
p.A53T |
Missense |
1/16 |
- |
4 |
2-47630487-GC-TG |
c.157_158delinsTG |
p.A53C |
Missense |
1/16 |
- |
1 |
2-47630487-GC-CA |
c.157_158delinsCA |
p.A53H |
Missense |
1/16 |
- |
1 |
2-47630487-GC-AA |
c.157_158delinsAA |
p.A53N |
Missense |
1/16 |
- |
1 |
2-47630487-GC-AT |
c.157_158delinsAT |
p.A53I |
Missense |
1/16 |
- |
1 |
2-47630487-GCC-CAA |
c.157_159delinsCAA |
p.A53Q |
Missense |
1/16 |
- |
1 |
2-47630487-GCC-TGG |
c.157_159delinsTGG |
p.A53W |
Missense |
1/16 |
- |
1 |
2-47630487-GC-TT |
c.157_158delinsTT |
p.A53F |
Missense |
1/16 |
- |
1 |
2-47630487-GC-CT |
c.157_158delinsCT |
p.A53L |
Missense |
1/16 |
- |
1 |
2-47630487-G-T |
c.157G>T |
p.A53S |
Missense |
1/16 |
- |
6 |
2-47630487-GCC-AAG |
c.157_159delinsAAG |
p.A53K |
Missense |
1/16 |
- |
1 |
2-47630487-G-C |
c.157G>C |
p.A53P |
Missense |
1/16 |
- |
2 |
2-47630487-GC-CG |
c.157_158delinsCG |
p.A53R |
Missense |
1/16 |
- |
1 |
2-47630487-GC-TA |
c.157_158delinsTA |
p.A53Y |
Missense |
1/16 |
- |
1 |
2-47630487-GCC-ATG |
c.157_159delinsATG |
p.A53M |
Missense |
1/16 |
- |
1 |
2-47630488-C-A |
c.158C>A |
p.A53D |
Missense |
1/16 |
- |
3 |
2-47630488-CC-AG |
c.158_159delinsAG |
p.A53E |
Missense |
1/16 |
- |
1 |
2-47630488-C-G |
c.158C>G |
p.A53G |
Missense |
1/16 |
- |
3 |
2-47630488-C-T |
c.158C>T |
p.A53V |
Missense |
1/16 |
- |
2 |
2-47630489-C-T |
c.159C>T |
p.A53= |
Synonymous |
1/16 |
- |
2 |
2-47630490-GC-TA |
c.160_161delinsTA |
p.A54Y |
Missense |
1/16 |
- |
3 |
2-47630490-G-C |
c.160G>C |
p.A54P |
Missense |
1/16 |
- |
5 |
2-47630490-G-T |
c.160G>T |
p.A54S |
Missense |
1/16 |
- |
9 |
2-47630490-G-A |
c.160G>A |
p.A54T |
Missense |
1/16 |
- |
6 |
2-47630490-GC-TT |
c.160_161delinsTT |
p.A54F |
Missense |
1/16 |
- |
3 |
2-47630490-GC-CT |
c.160_161delinsCT |
p.A54L |
Missense |
1/16 |
- |
1 |
2-47630490-GCC-ATG |
c.160_162delinsATG |
p.A54M |
Missense |
1/16 |
- |
1 |
2-47630490-GC-CA |
c.160_161delinsCA |
p.A54H |
Missense |
1/16 |
- |
1 |
2-47630490-GCC-CAA |
c.160_162delinsCAA |
p.A54Q |
Missense |
1/16 |
- |
1 |
2-47630490-GCC-TGG |
c.160_162delinsTGG |
p.A54W |
Missense |
1/16 |
- |
1 |
2-47630490-GC-TG |
c.160_161delinsTG |
p.A54C |
Missense |
1/16 |
- |
2 |
2-47630490-GC-AA |
c.160_161delinsAA |
p.A54N |
Missense |
1/16 |
- |
1 |
2-47630490-GC-CG |
c.160_161delinsCG |
p.A54R |
Missense |
1/16 |
- |
2 |
2-47630490-GC-AT |
c.160_161delinsAT |
p.A54I |
Missense |
1/16 |
- |
1 |
2-47630490-GCC-AAG |
c.160_162delinsAAG |
p.A54K |
Missense |
1/16 |
- |
1 |
2-47630490-CG-C |
c.160del |
p.A54Pfs*10 |
Frameshift |
1/16 |
- |
1 |
2-47630491-C-A |
c.161C>A |
p.A54D |
Missense |
1/16 |
- |
3 |
2-47630491-C-G |
c.161C>G |
p.A54G |
Missense |
1/16 |
- |
2 |
2-47630491-C-T |
c.161C>T |
p.A54V |
Missense |
1/16 |
- |
5 |
2-47630491-CC-AG |
c.161_162delinsAG |
p.A54E |
Missense |
1/16 |
- |
1 |
2-47630493-C-G |
c.163C>G |
p.R55G |
Missense |
1/16 |
- |
7 |
2-47630490-GC-G |
c.163del |
p.R55Gfs*9 |
Frameshift |
1/16 |
- |
6 |
2-47630493-C-T |
c.163C>T |
p.R55W |
Missense |
1/16 |
- |
6 |
2-47630493-CG-AA |
c.163_164delinsAA |
p.R55K |
Missense |
1/16 |
- |
1 |
2-47630493-CGG-ATC |
c.163_165delinsATC |
p.R55I |
Missense |
1/16 |
- |
1 |
2-47630493-CGG-GAC |
c.163_165delinsGAC |
p.R55D |
Missense |
1/16 |
- |
2 |
2-47630493-CGG-TGT |
c.163_165delinsTGT |
p.R55C |
Missense |
1/16 |
- |
1 |
2-47630493-CGG-TTT |
c.163_165delinsTTT |
p.R55F |
Missense |
1/16 |
- |
1 |
2-47630493-CG-GA |
c.163_164delinsGA |
p.R55E |
Missense |
1/16 |
- |
1 |
2-47630493-CG-AT |
c.163_164delinsAT |
p.R55M |
Missense |
1/16 |
- |
1 |
2-47630493-CG-GC |
c.163_164delinsGC |
p.R55A |
Missense |
1/16 |
- |
1 |
2-47630493-CGG-AAC |
c.163_165delinsAAC |
p.R55N |
Missense |
1/16 |
- |
2 |
2-47630493-CGG-AGC |
c.163_165delinsAGC |
p.R55S |
Missense |
1/16 |
- |
1 |
2-47630493-CG-GT |
c.163_164delinsGT |
p.R55V |
Missense |
1/16 |
- |
1 |
2-47630493-CGG-TAT |
c.163_165delinsTAT |
p.R55Y |
Missense |
1/16 |
- |
1 |
2-47630493-CG-AC |
c.163_164delinsAC |
p.R55T |
Missense |
1/16 |
- |
1 |
2-47630494-G-A |
c.164G>A |
p.R55Q |
Missense |
1/16 |
- |
8 |
2-47630494-GG-AT |
c.164_165delinsAT |
p.R55H |
Missense |
1/16 |
- |
2 |
2-47630494-G-T |
c.164G>T |
p.R55L |
Missense |
1/16 |
- |
2 |
2-47630494-G-C |
c.164G>C |
p.R55P |
Missense |
1/16 |
- |
2 |
2-47630496-G-A |
c.166G>A |
p.E56K |
Missense |
1/16 |
- |
7 |
2-47630496-G-T |
c.166G>T |
p.E56* |
Nonsense |
1/16 |
- |
10 |
2-47630493-CG-C |
c.166del |
p.E56Rfs*8 |
Frameshift |
1/16 |
- |
4 |
2-47630496-GA-TC |
c.166_167inv |
p.E56S |
Missense |
1/16 |
- |
1 |
2-47630496-GA-CC |
c.166_167delinsCC |
p.E56P |
Missense |
1/16 |
- |
1 |
2-47630496-G-C |
c.166G>C |
p.E56Q |
Missense |
1/16 |
- |
4 |
2-47630496-GA-AG |
c.166_167delinsAG |
p.E56R |
Missense |
1/16 |
- |
2 |
2-47630496-GAG-TAT |
c.166_168delinsTAT |
p.E56Y |
Missense |
1/16 |
- |
1 |
2-47630496-GA-TG |
c.166_167delinsTG |
p.E56W |
Missense |
1/16 |
- |
1 |
2-47630496-GA-AC |
c.166_167delinsAC |
p.E56T |
Missense |
1/16 |
- |
1 |
2-47630496-GA-AT |
c.166_167delinsAT |
p.E56M |
Missense |
1/16 |
- |
1 |
2-47630496-GA-CT |
c.166_167delinsCT |
p.E56L |
Missense |
1/16 |
- |
2 |
2-47630496-GAG-TTT |
c.166_168delinsTTT |
p.E56F |
Missense |
1/16 |
- |
1 |
2-47630496-GAG-TGT |
c.166_168delinsTGT |
p.E56C |
Missense |
1/16 |
- |
1 |
2-47630496-GAG-AAC |
c.166_168delinsAAC |
p.E56N |
Missense |
1/16 |
- |
1 |
2-47630496-GAG-ATC |
c.166_168delinsATC |
p.E56I |
Missense |
1/16 |
- |
1 |
2-47630496-GAG-CAT |
c.166_168delinsCAT |
p.E56H |
Missense |
1/16 |
- |
1 |
2-47630497-A-T |
c.167A>T |
p.E56V |
Missense |
1/16 |
- |
4 |
2-47630497-A-G |
c.167A>G |
p.E56G |
Missense |
1/16 |
- |
4 |
2-47630497-A-C |
c.167A>C |
p.E56A |
Missense |
1/16 |
- |
4 |
2-47630494-GGGAGGTGTTCAAGACCCA-G |
c.167_184del |
p.E56_Q61del |
InFrameDeletion |
1/16 |
- |
1 |
2-47630498-G-C |
c.168G>C |
p.E56D |
Missense |
1/16 |
- |
2 |
2-47630498-G-T |
c.168G>T |
p.E56D |
Missense |
1/16 |
- |
2 |
2-47630499-G-A |
c.169G>A |
p.V57M |
Missense |
1/16 |
- |
6 |
2-47630499-GTG-TAT |
c.169_171delinsTAT |
p.V57Y |
Missense |
1/16 |
- |
1 |
2-47630499-GT-TG |
c.169_170delinsTG |
p.V57W |
Missense |
1/16 |
- |
1 |
2-47630499-GT-AC |
c.169_170inv |
p.V57T |
Missense |
1/16 |
- |
1 |
2-47630499-GT-TC |
c.169_170delinsTC |
p.V57S |
Missense |
1/16 |
- |
1 |
2-47630499-GT-AG |
c.169_170delinsAG |
p.V57R |
Missense |
1/16 |
- |
1 |
2-47630499-GT-CA |
c.169_170delinsCA |
p.V57Q |
Missense |
1/16 |
- |
1 |
2-47630499-GT-CC |
c.169_170delinsCC |
p.V57P |
Missense |
1/16 |
- |
1 |
2-47630499-GTG-AAC |
c.169_171delinsAAC |
p.V57N |
Missense |
1/16 |
- |
1 |
2-47630499-G-C |
c.169G>C |
p.V57L |
Missense |
1/16 |
- |
2 |
2-47630499-G-T |
c.169G>T |
p.V57L |
Missense |
1/16 |
- |
2 |
2-47630499-GT-AA |
c.169_170delinsAA |
p.V57K |
Missense |
1/16 |
- |
1 |
2-47630499-GTG-ATC |
c.169_171delinsATC |
p.V57I |
Missense |
1/16 |
- |
1 |
2-47630499-GTG-CAT |
c.169_171delinsCAT |
p.V57H |
Missense |
1/16 |
- |
1 |
2-47630499-GTG-TTT |
c.169_171delinsTTT |
p.V57F |
Missense |
1/16 |
- |
1 |
2-47630499-GTG-TGT |
c.169_171delinsTGT |
p.V57C |
Missense |
1/16 |
- |
1 |
2-47630500-T-G |
c.170T>G |
p.V57G |
Missense |
1/16 |
- |
4 |
2-47630500-T-C |
c.170T>C |
p.V57A |
Missense |
1/16 |
- |
3 |
2-47630500-T-A |
c.170T>A |
p.V57E |
Missense |
1/16 |
- |
2 |
2-47630500-TG-AC |
c.170_171delinsAC |
p.V57D |
Missense |
1/16 |
- |
1 |
2-47630500-T-TGCAGCAGCAGCAGCA |
c.171_172insCAGCAGCAGCAGCAG |
p.V57_F58insQQQQQ |
InFrameInsertion |
1/16 |
- |
1 |
2-47630502-T-C |
c.172T>C |
p.F58L |
Missense |
1/16 |
- |
4 |
2-47630504-C-A |
c.174C>A |
p.F58L |
Missense |
1/16 |
- |
5 |
2-47630502-TT-GC |
c.172_173delinsGC |
p.F58A |
Missense |
1/16 |
- |
1 |
2-47630502-TT-AA |
c.172_173inv |
p.F58N |
Missense |
1/16 |
- |
1 |
2-47630502-TTC-ATG |
c.172_174delinsATG |
p.F58M |
Missense |
1/16 |
- |
1 |
2-47630502-TTC-AAG |
c.172_174delinsAAG |
p.F58K |
Missense |
1/16 |
- |
1 |
2-47630502-T-A |
c.172T>A |
p.F58I |
Missense |
1/16 |
- |
3 |
2-47630502-TT-CA |
c.172_173delinsCA |
p.F58H |
Missense |
1/16 |
- |
1 |
2-47630502-TT-GG |
c.172_173delinsGG |
p.F58G |
Missense |
1/16 |
- |
1 |
2-47630502-TTC-GAG |
c.172_174delinsGAG |
p.F58E |
Missense |
1/16 |
- |
1 |
2-47630502-TT-GA |
c.172_173delinsGA |
p.F58D |
Missense |
1/16 |
- |
1 |
2-47630502-TT-AC |
c.172_173delinsAC |
p.F58T |
Missense |
1/16 |
- |
1 |
2-47630502-TT-CG |
c.172_173delinsCG |
p.F58R |
Missense |
1/16 |
- |
1 |
2-47630502-T-G |
c.172T>G |
p.F58V |
Missense |
1/16 |
- |
2 |
2-47630502-TT-CC |
c.172_173delinsCC |
p.F58P |
Missense |
1/16 |
- |
1 |
2-47630502-TTC-CAA |
c.172_174delinsCAA |
p.F58Q |
Missense |
1/16 |
- |
1 |
2-47630503-T-G |
c.173T>G |
p.F58C |
Missense |
1/16 |
- |
1 |
2-47630503-TC-GG |
c.173_174delinsGG |
p.F58W |
Missense |
1/16 |
- |
1 |
2-47630503-T-A |
c.173T>A |
p.F58Y |
Missense |
1/16 |
- |
1 |
2-47630503-T-C |
c.173T>C |
p.F58S |
Missense |
1/16 |
- |
4 |
2-47630503-T-TC |
c.174dup |
p.K59Qfs*23 |
Frameshift |
1/16 |
- |
3 |
2-47630504-C-G |
c.174C>G |
p.F58L |
Missense |
1/16 |
- |
9 |
2-47630504-C-T |
c.174C>T |
p.F58= |
Synonymous |
1/16 |
- |
1 |
2-47630505-A-G |
c.175A>G |
p.K59E |
Missense |
1/16 |
- |
4 |
2-47630505-A-C |
c.175A>C |
p.K59Q |
Missense |
1/16 |
- |
2 |
2-47630505-AAG-TTT |
c.175_177delinsTTT |
p.K59F |
Missense |
1/16 |
- |
1 |
2-47630505-AA-GG |
c.175_176delinsGG |
p.K59G |
Missense |
1/16 |
- |
1 |
2-47630505-AA-CC |
c.175_176delinsCC |
p.K59P |
Missense |
1/16 |
- |
1 |
2-47630505-AAG-CAT |
c.175_177delinsCAT |
p.K59H |
Missense |
1/16 |
- |
1 |
2-47630505-AA-CT |
c.175_176delinsCT |
p.K59L |
Missense |
1/16 |
- |
1 |
2-47630505-AAG-TAT |
c.175_177delinsTAT |
p.K59Y |
Missense |
1/16 |
- |
1 |
2-47630505-AAG-GAC |
c.175_177delinsGAC |
p.K59D |
Missense |
1/16 |
- |
1 |
2-47630505-AA-GC |
c.175_176delinsGC |
p.K59A |
Missense |
1/16 |
- |
2 |
2-47630505-AAG-TGT |
c.175_177delinsTGT |
p.K59C |
Missense |
1/16 |
- |
1 |
2-47630505-AA-GT |
c.175_176delinsGT |
p.K59V |
Missense |
1/16 |
- |
1 |
2-47630505-AA-TG |
c.175_176delinsTG |
p.K59W |
Missense |
1/16 |
- |
1 |
2-47630505-A-T |
c.175A>T |
p.K59* |
Nonsense |
1/16 |
- |
3 |
2-47630504-CA-C |
c.176del |
p.K59Rfs*5 |
Frameshift |
1/16 |
- |
3 |
2-47630506-A-T |
c.176A>T |
p.K59M |
Missense |
1/16 |
- |
2 |
2-47630506-AG-TC |
c.176_177delinsTC |
p.K59I |
Missense |
1/16 |
- |
1 |
2-47630506-AG-GC |
c.176_177delinsGC |
p.K59S |
Missense |
1/16 |
- |
1 |
2-47630506-A-C |
c.176A>C |
p.K59T |
Missense |
1/16 |
- |
2 |
2-47630506-A-G |
c.176A>G |
p.K59R |
Missense |
1/16 |
- |
2 |
2-47630504-C-CA |
c.176dup |
p.T60Dfs*22 |
Frameshift |
1/16 |
- |
1 |
2-47630507-G-C |
c.177G>C |
p.K59N |
Missense |
1/16 |
- |
2 |
2-47630507-G-T |
c.177G>T |
p.K59N |
Missense |
1/16 |
- |
2 |
2-47630508-AC-GA |
c.178_179delinsGA |
p.T60D |
Missense |
1/16 |
- |
1 |
2-47630508-ACC-GAG |
c.178_180delinsGAG |
p.T60E |
Missense |
1/16 |
- |
1 |
2-47630508-AC-GG |
c.178_179delinsGG |
p.T60G |
Missense |
1/16 |
- |
1 |
2-47630508-AC-CT |
c.178_179delinsCT |
p.T60L |
Missense |
1/16 |
- |
1 |
2-47630508-A-G |
c.178A>G |
p.T60A |
Missense |
1/16 |
- |
2 |
2-47630508-AC-TG |
c.178_179delinsTG |
p.T60C |
Missense |
1/16 |
- |
1 |
2-47630508-ACC-CAA |
c.178_180delinsCAA |
p.T60Q |
Missense |
1/16 |
- |
1 |
2-47630508-AC-TA |
c.178_179delinsTA |
p.T60Y |
Missense |
1/16 |
- |
1 |
2-47630508-AC-TT |
c.178_179delinsTT |
p.T60F |
Missense |
1/16 |
- |
1 |
2-47630508-ACC-TGG |
c.178_180delinsTGG |
p.T60W |
Missense |
1/16 |
- |
1 |
2-47630508-A-C |
c.178A>C |
p.T60P |
Missense |
1/16 |
- |
2 |
2-47630508-AC-GT |
c.178_179inv |
p.T60V |
Missense |
1/16 |
- |
1 |
2-47630508-AC-CA |
c.178_179delinsCA |
p.T60H |
Missense |
1/16 |
- |
1 |
2-47630509-CC-TG |
c.179_180delinsTG |
p.T60M |
Missense |
1/16 |
- |
2 |
2-47630509-CC-GG |
c.179_180inv |
p.T60R |
Missense |
1/16 |
- |
2 |
2-47630509-CC-AG |
c.179_180delinsAG |
p.T60K |
Missense |
1/16 |
- |
1 |
2-47630509-C-T |
c.179C>T |
p.T60I |
Missense |
1/16 |
- |
2 |
2-47630509-C-A |
c.179C>A |
p.T60N |
Missense |
1/16 |
- |
2 |
2-47630509-C-G |
c.179C>G |
p.T60S |
Missense |
1/16 |
- |
2 |
2-47630508-A-T |
c.178A>T |
p.T60S |
Missense |
1/16 |
- |
2 |
2-47630510-C-T |
c.180C>T |
p.T60= |
Synonymous |
1/16 |
- |
1 |
2-47630510-C-G |
c.180C>G |
p.T60= |
Synonymous |
1/16 |
- |
1 |
2-47630511-C-T |
c.181C>T |
p.Q61* |
Nonsense |
1/16 |
- |
16 |
2-47630511-C-A |
c.181C>A |
p.Q61K |
Missense |
1/16 |
- |
8 |
2-47630511-C-G |
c.181C>G |
p.Q61E |
Missense |
1/16 |
- |
4 |
2-47630511-CAG-TAT |
c.181_183delinsTAT |
p.Q61Y |
Missense |
1/16 |
- |
1 |
2-47630511-CA-TG |
c.181_182inv |
p.Q61W |
Missense |
1/16 |
- |
1 |
2-47630511-CA-GT |
c.181_182delinsGT |
p.Q61V |
Missense |
1/16 |
- |
1 |
2-47630511-CA-AC |
c.181_182delinsAC |
p.Q61T |
Missense |
1/16 |
- |
1 |
2-47630511-CA-TC |
c.181_182delinsTC |
p.Q61S |
Missense |
1/16 |
- |
1 |
2-47630511-CAG-ATC |
c.181_183delinsATC |
p.Q61I |
Missense |
1/16 |
- |
1 |
2-47630511-CAG-GAC |
c.181_183delinsGAC |
p.Q61D |
Missense |
1/16 |
- |
1 |
2-47630511-CAG-TTT |
c.181_183delinsTTT |
p.Q61F |
Missense |
1/16 |
- |
1 |
2-47630511-CA-GG |
c.181_182delinsGG |
p.Q61G |
Missense |
1/16 |
- |
1 |
2-47630511-CAG-TGT |
c.181_183delinsTGT |
p.Q61C |
Missense |
1/16 |
- |
1 |
2-47630511-CAG-AAC |
c.181_183delinsAAC |
p.Q61N |
Missense |
1/16 |
- |
1 |
2-47630511-CA-AT |
c.181_182delinsAT |
p.Q61M |
Missense |
1/16 |
- |
1 |
2-47630511-CA-GC |
c.181_182delinsGC |
p.Q61A |
Missense |
1/16 |
- |
2 |
2-47630512-A-T |
c.182A>T |
p.Q61L |
Missense |
1/16 |
- |
4 |
2-47630512-A-C |
c.182A>C |
p.Q61P |
Missense |
1/16 |
- |
9 |
2-47630512-A-G |
c.182A>G |
p.Q61R |
Missense |
1/16 |
- |
8 |
2-47630512-CA-C |
c.182del |
p.Q61Rfs*3 |
Frameshift |
1/16 |
- |
1 |
2-47630513-G-T |
c.183G>T |
p.Q61H |
Missense |
1/16 |
- |
8 |
2-47630513-G-C |
c.183G>C |
p.Q61H |
Missense |
1/16 |
- |
7 |
2-47630513-AGGGGG-A |
c.183_187del |
p.Q61Hfs*19 |
Frameshift |
1/16 |
- |
1 |
2-47630514-GGG-TTT |
c.184_186delinsTTT |
p.G62F |
Missense |
1/16 |
- |
1 |
2-47630514-GGG-CAT |
c.184_186delinsCAT |
p.G62H |
Missense |
1/16 |
- |
1 |
2-47630514-GGG-TGT |
c.184_186delinsTGT |
p.G62C |
Missense |
1/16 |
- |
1 |
2-47630514-GGG-ATC |
c.184_186delinsATC |
p.G62I |
Missense |
1/16 |
- |
1 |
2-47630514-GG-AA |
c.184_185delinsAA |
p.G62K |
Missense |
1/16 |
- |
1 |
2-47630514-GGG-TAT |
c.184_186delinsTAT |
p.G62Y |
Missense |
1/16 |
- |
1 |
2-47630514-G-T |
c.184G>T |
p.G62W |
Missense |
1/16 |
- |
1 |
2-47630514-GG-AC |
c.184_185delinsAC |
p.G62T |
Missense |
1/16 |
- |
1 |
2-47630514-GGG-AGC |
c.184_186delinsAGC |
p.G62S |
Missense |
1/16 |
- |
1 |
2-47630514-G-A |
c.184G>A |
p.G62R |
Missense |
1/16 |
- |
3 |
2-47630514-G-C |
c.184G>C |
p.G62R |
Missense |
1/16 |
- |
4 |
2-47630514-GG-CA |
c.184_185delinsCA |
p.G62Q |
Missense |
1/16 |
- |
1 |
2-47630514-GG-CC |
c.184_185inv |
p.G62P |
Missense |
1/16 |
- |
1 |
2-47630514-GGG-AAC |
c.184_186delinsAAC |
p.G62N |
Missense |
1/16 |
- |
1 |
2-47630514-GG-AT |
c.184_185delinsAT |
p.G62M |
Missense |
1/16 |
- |
1 |
2-47630514-GG-CT |
c.184_185delinsCT |
p.G62L |
Missense |
1/16 |
- |
1 |
2-47630515-G-A |
c.185G>A |
p.G62E |
Missense |
1/16 |
- |
5 |
2-47630515-G-C |
c.185G>C |
p.G62A |
Missense |
1/16 |
- |
3 |
2-47630515-GG-AC |
c.185_186delinsAC |
p.G62D |
Missense |
1/16 |
- |
1 |
2-47630515-G-T |
c.185G>T |
p.G62V |
Missense |
1/16 |
- |
2 |
2-47630516-G-GTA |
c.186_187insTA |
p.V63* |
Nonsense |
1/16 |
- |
1 |
2-47630516-G-GTAA |
c.186_187insTAA |
p.G62_V63ins* |
InFrameInsertion |
1/16 |
- |
2 |
2-47630516-G-C |
c.186G>C |
p.G62= |
Synonymous |
1/16 |
- |
3 |
2-47630516-G-A |
c.186G>A |
p.G62= |
Synonymous |
1/16 |
- |
2 |
2-47630516-G-T |
c.186G>T |
p.G62= |
Synonymous |
1/16 |
- |
1 |
2-47630517-GTG-TTT |
c.187_189delinsTTT |
p.V63F |
Missense |
1/16 |
- |
2 |
2-47630512-AG-A |
c.187del |
p.V63* |
Frameshift |
1/16 |
- |
14 |
2-47630517-G-A |
c.187G>A |
p.V63M |
Missense |
1/16 |
- |
6 |
2-47630512-A-AG |
c.187dup |
p.V63Gfs*19 |
Frameshift |
1/16 |
- |
4 |
2-47630517-G-C |
c.187G>C |
p.V63L |
Missense |
1/16 |
- |
2 |
2-47630517-G-T |
c.187G>T |
p.V63L |
Missense |
1/16 |
- |
3 |
2-47630517-GT-AA |
c.187_188delinsAA |
p.V63K |
Missense |
1/16 |
- |
1 |
2-47630517-GTG-ATC |
c.187_189delinsATC |
p.V63I |
Missense |
1/16 |
- |
1 |
2-47630517-GTG-CAT |
c.187_189delinsCAT |
p.V63H |
Missense |
1/16 |
- |
1 |
2-47630517-GTG-TGT |
c.187_189delinsTGT |
p.V63C |
Missense |
1/16 |
- |
1 |
2-47630517-GT-TG |
c.187_188delinsTG |
p.V63W |
Missense |
1/16 |
- |
1 |
2-47630517-GT-AC |
c.187_188inv |
p.V63T |
Missense |
1/16 |
- |
1 |
2-47630517-GT-TC |
c.187_188delinsTC |
p.V63S |
Missense |
1/16 |
- |
1 |
2-47630517-GT-AG |
c.187_188delinsAG |
p.V63R |
Missense |
1/16 |
- |
1 |
2-47630517-GT-CA |
c.187_188delinsCA |
p.V63Q |
Missense |
1/16 |
- |
1 |
2-47630517-GT-CC |
c.187_188delinsCC |
p.V63P |
Missense |
1/16 |
- |
1 |
2-47630517-GTG-AAC |
c.187_189delinsAAC |
p.V63N |
Missense |
1/16 |
- |
1 |
2-47630517-GTG-TAT |
c.187_189delinsTAT |
p.V63Y |
Missense |
1/16 |
- |
1 |
2-47630518-T-A |
c.188T>A |
p.V63E |
Missense |
1/16 |
- |
3 |
2-47630518-T-G |
c.188T>G |
p.V63G |
Missense |
1/16 |
- |
4 |
2-47630518-TG-AC |
c.188_189delinsAC |
p.V63D |
Missense |
1/16 |
- |
1 |
2-47630518-T-C |
c.188T>C |
p.V63A |
Missense |
1/16 |
- |
3 |
2-47630519-TG-T |
c.189del |
p.I64Sfs*20 |
Frameshift |
1/16 |
- |
1 |
2-47630519-G-A |
c.189G>A |
p.V63= |
Synonymous |
1/16 |
- |
1 |
2-47630520-GA-G |
c.190del |
p.I64Sfs*20 |
Frameshift |
1/16 |
- |
1 |
2-47630520-A-T |
c.190A>T |
p.I64F |
Missense |
1/16 |
- |
2 |
2-47630520-AT-GA |
c.190_191delinsGA |
p.I64D |
Missense |
1/16 |
- |
1 |
2-47630520-AT-TG |
c.190_191delinsTG |
p.I64C |
Missense |
1/16 |
- |
1 |
2-47630520-ATC-GAG |
c.190_192delinsGAG |
p.I64E |
Missense |
1/16 |
- |
1 |
2-47630520-AT-GC |
c.190_191delinsGC |
p.I64A |
Missense |
1/16 |
- |
1 |
2-47630520-A-G |
c.190A>G |
p.I64V |
Missense |
1/16 |
- |
4 |
2-47630520-ATC-TGG |
c.190_192delinsTGG |
p.I64W |
Missense |
1/16 |
- |
1 |
2-47630520-AT-TA |
c.190_191delinsTA |
p.I64Y |
Missense |
1/16 |
- |
1 |
2-47630520-ATC-CAA |
c.190_192delinsCAA |
p.I64Q |
Missense |
1/16 |
- |
1 |
2-47630520-AT-CC |
c.190_191delinsCC |
p.I64P |
Missense |
1/16 |
- |
1 |
2-47630520-AT-CA |
c.190_191delinsCA |
p.I64H |
Missense |
1/16 |
- |
1 |
2-47630520-AT-GG |
c.190_191delinsGG |
p.I64G |
Missense |
1/16 |
- |
1 |
2-47630520-A-C |
c.190A>C |
p.I64L |
Missense |
1/16 |
- |
2 |
2-47630521-T-A |
c.191T>A |
p.I64N |
Missense |
1/16 |
- |
2 |
2-47630521-TC-GG |
c.191_192delinsGG |
p.I64R |
Missense |
1/16 |
- |
1 |
2-47630521-T-C |
c.191T>C |
p.I64T |
Missense |
1/16 |
- |
4 |
2-47630521-T-G |
c.191T>G |
p.I64S |
Missense |
1/16 |
- |
2 |
2-47630521-TC-AG |
c.191_192delinsAG |
p.I64K |
Missense |
1/16 |
- |
1 |
2-47630521-AT-A |
c.191del |
p.I64Tfs*20 |
Frameshift |
1/16 |
- |
2 |
2-47630521-T-TC |
c.192dup |
p.K65Qfs*17 |
Frameshift |
1/16 |
- |
3 |
2-47630522-C-G |
c.192C>G |
p.I64M |
Missense |
1/16 |
- |
3 |
2-47630523-A-T |
c.193A>T |
p.K65* |
Nonsense |
1/16 |
- |
1 |
2-47630523-AAG-TAT |
c.193_195delinsTAT |
p.K65Y |
Missense |
1/16 |
- |
1 |
2-47630523-AA-TG |
c.193_194delinsTG |
p.K65W |
Missense |
1/16 |
- |
1 |
2-47630523-AA-GT |
c.193_194delinsGT |
p.K65V |
Missense |
1/16 |
- |
1 |
2-47630523-AA-CT |
c.193_194delinsCT |
p.K65L |
Missense |
1/16 |
- |
1 |
2-47630523-A-C |
c.193A>C |
p.K65Q |
Missense |
1/16 |
- |
3 |
2-47630523-AA-CC |
c.193_194delinsCC |
p.K65P |
Missense |
1/16 |
- |
1 |
2-47630523-AA-GC |
c.193_194delinsGC |
p.K65A |
Missense |
1/16 |
- |
1 |
2-47630523-AAG-GAC |
c.193_195delinsGAC |
p.K65D |
Missense |
1/16 |
- |
1 |
2-47630523-A-G |
c.193A>G |
p.K65E |
Missense |
1/16 |
- |
2 |
2-47630523-AA-GG |
c.193_194delinsGG |
p.K65G |
Missense |
1/16 |
- |
1 |
2-47630523-AAG-TTT |
c.193_195delinsTTT |
p.K65F |
Missense |
1/16 |
- |
1 |
2-47630523-AAG-CAT |
c.193_195delinsCAT |
p.K65H |
Missense |
1/16 |
- |
1 |
2-47630523-AAG-TGT |
c.193_195delinsTGT |
p.K65C |
Missense |
1/16 |
- |
1 |
2-47630523-A-ATC |
c.193_194insTC |
p.K65Ifs*20 |
Frameshift |
1/16 |
- |
2 |
2-47630524-A-T |
c.194A>T |
p.K65M |
Missense |
1/16 |
- |
3 |
2-47630524-A-C |
c.194A>C |
p.K65T |
Missense |
1/16 |
- |
2 |
2-47630524-AG-GC |
c.194_195delinsGC |
p.K65S |
Missense |
1/16 |
- |
1 |
2-47630524-A-G |
c.194A>G |
p.K65R |
Missense |
1/16 |
- |
2 |
2-47630524-AG-TC |
c.194_195delinsTC |
p.K65I |
Missense |
1/16 |
- |
2 |
2-47630525-G-C |
c.195G>C |
p.K65N |
Missense |
1/16 |
- |
1 |
2-47630525-G-T |
c.195G>T |
p.K65N |
Missense |
1/16 |
- |
1 |
2-47630526-GT-G |
c.196del |
p.Y66Tfs*18 |
Frameshift |
1/16 |
- |
1 |
2-47630526-TA-GG |
c.196_197delinsGG |
p.Y66G |
Missense |
1/16 |
- |
1 |
2-47630526-T-C |
c.196T>C |
p.Y66H |
Missense |
1/16 |
- |
2 |
2-47630526-TA-GC |
c.196_197delinsGC |
p.Y66A |
Missense |
1/16 |
- |
2 |
2-47630526-T-A |
c.196T>A |
p.Y66N |
Missense |
1/16 |
- |
2 |
2-47630526-TA-CT |
c.196_197delinsCT |
p.Y66L |
Missense |
1/16 |
- |
1 |
2-47630526-TA-GT |
c.196_197delinsGT |
p.Y66V |
Missense |
1/16 |
- |
1 |
2-47630526-TAC-ATG |
c.196_198delinsATG |
p.Y66M |
Missense |
1/16 |
- |
1 |
2-47630526-TAC-AAG |
c.196_198delinsAAG |
p.Y66K |
Missense |
1/16 |
- |
1 |
2-47630526-TAC-GAG |
c.196_198delinsGAG |
p.Y66E |
Missense |
1/16 |
- |
1 |
2-47630526-TA-AT |
c.196_197delinsAT |
p.Y66I |
Missense |
1/16 |
- |
1 |
2-47630526-TA-CC |
c.196_197delinsCC |
p.Y66P |
Missense |
1/16 |
- |
1 |
2-47630526-TA-CG |
c.196_197delinsCG |
p.Y66R |
Missense |
1/16 |
- |
1 |
2-47630526-TA-AC |
c.196_197delinsAC |
p.Y66T |
Missense |
1/16 |
- |
1 |
2-47630526-TAC-CAA |
c.196_198delinsCAA |
p.Y66Q |
Missense |
1/16 |
- |
1 |
2-47630526-T-G |
c.196T>G |
p.Y66D |
Missense |
1/16 |
- |
1 |
2-47630527-A-C |
c.197A>C |
p.Y66S |
Missense |
1/16 |
- |
2 |
2-47630527-AC-GG |
c.197_198delinsGG |
p.Y66W |
Missense |
1/16 |
- |
1 |
2-47630527-A-G |
c.197A>G |
p.Y66C |
Missense |
1/16 |
- |
3 |
2-47630527-A-T |
c.197A>T |
p.Y66F |
Missense |
1/16 |
- |
2 |
2-47630528-C-T |
c.198C>T |
p.Y66= |
Synonymous |
1/16 |
- |
4 |
2-47630528-C-G |
c.198C>G |
p.Y66* |
Nonsense |
1/16 |
- |
1 |
2-47630528-C-A |
c.198C>A |
p.Y66* |
Nonsense |
1/16 |
- |
1 |
2-47630529-A-G |
c.199A>G |
p.M67V |
Missense |
1/16 |
- |
6 |
2-47630529-ATG-TAT |
c.199_201delinsTAT |
p.M67Y |
Missense |
1/16 |
- |
1 |
2-47630529-AT-TG |
c.199_200delinsTG |
p.M67W |
Missense |
1/16 |
- |
1 |
2-47630529-ATG-CAT |
c.199_201inv |
p.M67H |
Missense |
1/16 |
- |
1 |
2-47630529-AT-CA |
c.199_200delinsCA |
p.M67Q |
Missense |
1/16 |
- |
1 |
2-47630529-AT-CC |
c.199_200delinsCC |
p.M67P |
Missense |
1/16 |
- |
1 |
2-47630529-A-C |
c.199A>C |
p.M67L |
Missense |
1/16 |
- |
2 |
2-47630529-A-T |
c.199A>T |
p.M67L |
Missense |
1/16 |
- |
2 |
2-47630529-AT-GA |
c.199_200delinsGA |
p.M67E |
Missense |
1/16 |
- |
1 |
2-47630529-AT-GC |
c.199_200delinsGC |
p.M67A |
Missense |
1/16 |
- |
1 |
2-47630529-ATG-GAC |
c.199_201delinsGAC |
p.M67D |
Missense |
1/16 |
- |
1 |
2-47630529-ATG-TGT |
c.199_201delinsTGT |
p.M67C |
Missense |
1/16 |
- |
1 |
2-47630529-ATG-TTT |
c.199_201delinsTTT |
p.M67F |
Missense |
1/16 |
- |
1 |
2-47630529-AT-GG |
c.199_200delinsGG |
p.M67G |
Missense |
1/16 |
- |
1 |
2-47630530-T-C |
c.200T>C |
p.M67T |
Missense |
1/16 |
- |
3 |
2-47630530-TG-GC |
c.200_201delinsGC |
p.M67S |
Missense |
1/16 |
- |
1 |
2-47630530-T-G |
c.200T>G |
p.M67R |
Missense |
1/16 |
- |
2 |
2-47630530-T-A |
c.200T>A |
p.M67K |
Missense |
1/16 |
- |
4 |
2-47630530-TG-AC |
c.200_201delinsAC |
p.M67N |
Missense |
1/16 |
- |
1 |
2-47630531-G-C |
c.201G>C |
p.M67I |
Missense |
1/16 |
- |
4 |
2-47630531-G-A |
c.201G>A |
p.M67I |
Missense |
1/16 |
- |
2 |
2-47630531-G-T |
c.201G>T |
p.M67I |
Missense |
1/16 |
- |
2 |
2-47630532-G-A |
c.202G>A |
p.G68R |
Missense |
1/16 |
- |
4 |
2-47630532-GGG-TAT |
c.202_204delinsTAT |
p.G68Y |
Missense |
1/16 |
- |
1 |
2-47630532-G-T |
c.202G>T |
p.G68W |
Missense |
1/16 |
- |
2 |
2-47630532-GG-AC |
c.202_203delinsAC |
p.G68T |
Missense |
1/16 |
- |
1 |
2-47630532-GGG-AGC |
c.202_204delinsAGC |
p.G68S |
Missense |
1/16 |
- |
1 |
2-47630532-GGG-TGT |
c.202_204delinsTGT |
p.G68C |
Missense |
1/16 |
- |
1 |
2-47630532-GG-CA |
c.202_203delinsCA |
p.G68Q |
Missense |
1/16 |
- |
1 |
2-47630532-GG-CC |
c.202_203inv |
p.G68P |
Missense |
1/16 |
- |
1 |
2-47630532-GGG-AAC |
c.202_204delinsAAC |
p.G68N |
Missense |
1/16 |
- |
1 |
2-47630532-GGG-CAT |
c.202_204delinsCAT |
p.G68H |
Missense |
1/16 |
- |
1 |
2-47630532-GGG-TTT |
c.202_204delinsTTT |
p.G68F |
Missense |
1/16 |
- |
1 |
2-47630532-GG-AT |
c.202_203delinsAT |
p.G68M |
Missense |
1/16 |
- |
1 |
2-47630532-GG-CT |
c.202_203delinsCT |
p.G68L |
Missense |
1/16 |
- |
1 |
2-47630532-GG-AA |
c.202_203delinsAA |
p.G68K |
Missense |
1/16 |
- |
1 |
2-47630532-GGG-ATC |
c.202_204delinsATC |
p.G68I |
Missense |
1/16 |
- |
1 |
2-47630532-G-C |
c.202G>C |
p.G68R |
Missense |
1/16 |
- |
1 |
2-47630533-G-C |
c.203G>C |
p.G68A |
Missense |
1/16 |
- |
4 |
2-47630533-G-T |
c.203G>T |
p.G68V |
Missense |
1/16 |
- |
2 |
2-47630533-G-A |
c.203G>A |
p.G68E |
Missense |
1/16 |
- |
3 |
2-47630533-GG-AC |
c.203_204delinsAC |
p.G68D |
Missense |
1/16 |
- |
1 |
2-47630534-G-T |
c.204G>T |
p.G68= |
Synonymous |
1/16 |
- |
1 |
2-47630534-G-A |
c.204G>A |
p.G68= |
Synonymous |
1/16 |
- |
1 |
2-47630534-G-C |
c.204G>C |
p.G68= |
Synonymous |
1/16 |
- |
1 |
2-47630530-TG-T |
c.204del |
p.P69Rfs*15 |
Frameshift |
1/16 |
- |
5 |
2-47630535-C-A |
c.205C>A |
p.P69T |
Missense |
1/16 |
- |
4 |
2-47630535-C-G |
c.205C>G |
p.P69A |
Missense |
1/16 |
- |
1 |
2-47630535-C-T |
c.205C>T |
p.P69S |
Missense |
1/16 |
- |
1 |
2-47630533-GGCC-G |
c.205_207del |
p.P69del |
InFrameDeletion |
1/16 |
- |
1 |
2-47630536-C-T |
c.206C>T |
p.P69L |
Missense |
1/16 |
- |
3 |
2-47630536-C-A |
c.206C>A |
p.P69Q |
Missense |
1/16 |
- |
2 |
2-47630536-C-G |
c.206C>G |
p.P69R |
Missense |
1/16 |
- |
2 |
2-47630534-GC-G |
c.206del |
p.P69Rfs*15 |
Frameshift |
1/16 |
- |
2 |
2-47630530-TGGGGCCGGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCC-T |
c.207_211+42del |
- |
SpliceDonorDeletion |
1/16 |
1/15 |
1 |
2-47630538-GCA-TTT |
c.208_210delinsTTT |
p.A70F |
Missense |
1/16 |
- |
3 |
2-47630538-GCA-TGT |
c.208_210delinsTGT |
p.A70C |
Missense |
1/16 |
- |
1 |
2-47630538-GC-AA |
c.208_209delinsAA |
p.A70K |
Missense |
1/16 |
- |
1 |
2-47630538-G-T |
c.208G>T |
p.A70S |
Missense |
1/16 |
- |
3 |
2-47630538-G-C |
c.208G>C |
p.A70P |
Missense |
1/16 |
- |
2 |
2-47630538-G-A |
c.208G>A |
p.A70T |
Missense |
1/16 |
- |
5 |
2-47630538-GC-AT |
c.208_209delinsAT |
p.A70I |
Missense |
1/16 |
- |
1 |
2-47630538-GCA-AAC |
c.208_210delinsAAC |
p.A70N |
Missense |
1/16 |
- |
1 |
2-47630538-GC-AG |
c.208_209delinsAG |
p.A70R |
Missense |
1/16 |
- |
1 |
2-47630538-GCA-TAT |
c.208_210delinsTAT |
p.A70Y |
Missense |
1/16 |
- |
1 |
2-47630538-GC-CT |
c.208_209delinsCT |
p.A70L |
Missense |
1/16 |
- |
1 |
2-47630538-GC-CA |
c.208_209delinsCA |
p.A70Q |
Missense |
1/16 |
- |
1 |
2-47630538-GCA-ATG |
c.208_210delinsATG |
p.A70M |
Missense |
1/16 |
- |
1 |
2-47630538-GCA-TGG |
c.208_210delinsTGG |
p.A70W |
Missense |
1/16 |
- |
1 |
2-47630538-GCA-CAT |
c.208_210delinsCAT |
p.A70H |
Missense |
1/16 |
- |
1 |
2-47630539-C-A |
c.209C>A |
p.A70E |
Missense |
1/16 |
- |
5 |
2-47630539-CA-AC |
c.209_210delinsAC |
p.A70D |
Missense |
1/16 |
- |
1 |
2-47630539-C-T |
c.209C>T |
p.A70V |
Missense |
1/16 |
- |
3 |
2-47630539-C-G |
c.209C>G |
p.A70G |
Missense |
1/16 |
- |
2 |
2-47630531-GGGGCCGGCAGGTGA-G |
c.209_211+11del |
- |
SpliceDonorDeletion |
1/16 |
1/15 |
1 |
2-47630541-G-C |
c.211G>C |
p.G71R |
Missense |
1/16 |
- |
13 |
2-47630541-G-A |
c.211G>A |
p.G71R |
Missense |
1/16 |
- |
4 |
2-47630542-G-T |
c.211+1G>T |
- |
IntronicSNV |
- |
1/15 |
3 |
2-47630542-G-A |
c.211+1G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47630542-G-C |
c.211+1G>C |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47630540-A-AG |
c.211+1dup |
- |
SpliceDonorInsertion |
- |
1/15 |
1 |
2-47630543-T-C |
c.211+2T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47630549-C-T |
c.211+8C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47630550-C-G |
c.211+9C>G |
- |
IntronicSNV |
- |
1/15 |
38 |
2-47630550-C-A |
c.211+9C>A |
- |
IntronicSNV |
- |
1/15 |
18 |
2-47630550-C-T |
c.211+9C>T |
- |
IntronicSNV |
- |
1/15 |
18 |
2-47630563-G-A |
c.211+22G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47630629-GC-G |
c.211+90del |
- |
IntronicDeletion |
- |
1/15 |
1 |
2-47630639-T-C |
c.211+98T>C |
- |
IntronicSNV |
- |
1/15 |
10 |
2-47630639-T-A |
c.211+98T>A |
- |
IntronicSNV |
- |
1/15 |
3 |
2-47630642-G-A |
c.211+101G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47631091-G-C |
c.211+550G>C |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47635062-T-G |
c.212-478T>G |
- |
IntronicSNV |
- |
1/15 |
2 |
2-47635525-T-C |
c.212-15T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47635537-A-T |
c.212-3A>T |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47635538-A-G |
c.212-2A>G |
- |
IntronicSNV |
- |
1/15 |
2 |
2-47635539-G-A |
c.212-1G>A |
- |
IntronicSNV |
- |
1/15 |
2 |
2-47635540-G-T |
c.212G>T |
p.G71V |
Missense |
2/16 |
- |
2 |
2-47635540-GA-AC |
c.212_213delinsAC |
p.G71D |
Missense |
2/16 |
- |
1 |
2-47635540-G-A |
c.212G>A |
p.G71E |
Missense |
2/16 |
- |
2 |
2-47635540-G-C |
c.212G>C |
p.G71A |
Missense |
2/16 |
- |
1 |
2-47635537-AAGG-A |
c.212_214del |
p.G71del |
SpliceAcceptorDeletion |
2/16 |
- |
1 |
2-47635538-AG-A |
c.212del |
p.G71Efs*13 |
Frameshift |
2/16 |
- |
1 |
2-47635539-GGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAA-G |
c.214_272del |
p.A72Sfs*8 |
SpliceAcceptorDeletion |
2/16 |
- |
2 |
2-47635542-G-A |
c.214G>A |
p.A72T |
Missense |
2/16 |
- |
7 |
2-47635542-GCA-TAT |
c.214_216delinsTAT |
p.A72Y |
Missense |
2/16 |
- |
1 |
2-47635542-GC-AA |
c.214_215delinsAA |
p.A72K |
Missense |
2/16 |
- |
1 |
2-47635542-GC-AT |
c.214_215delinsAT |
p.A72I |
Missense |
2/16 |
- |
1 |
2-47635542-GC-CT |
c.214_215delinsCT |
p.A72L |
Missense |
2/16 |
- |
1 |
2-47635542-GCA-TTT |
c.214_216delinsTTT |
p.A72F |
Missense |
2/16 |
- |
2 |
2-47635542-GCA-TGT |
c.214_216delinsTGT |
p.A72C |
Missense |
2/16 |
- |
3 |
2-47635542-GCA-TGG |
c.214_216delinsTGG |
p.A72W |
Missense |
2/16 |
- |
1 |
2-47635542-G-T |
c.214G>T |
p.A72S |
Missense |
2/16 |
- |
3 |
2-47635542-GCA-AAC |
c.214_216delinsAAC |
p.A72N |
Missense |
2/16 |
- |
1 |
2-47635542-GCA-ATG |
c.214_216delinsATG |
p.A72M |
Missense |
2/16 |
- |
1 |
2-47635542-GC-CA |
c.214_215delinsCA |
p.A72Q |
Missense |
2/16 |
- |
1 |
2-47635542-GC-AG |
c.214_215delinsAG |
p.A72R |
Missense |
2/16 |
- |
1 |
2-47635542-GCA-CAT |
c.214_216delinsCAT |
p.A72H |
Missense |
2/16 |
- |
1 |
2-47635542-G-C |
c.214G>C |
p.A72P |
Missense |
2/16 |
- |
2 |
2-47635543-GC-G |
c.215del |
p.A72Efs*12 |
Frameshift |
2/16 |
- |
1 |
2-47635543-C-T |
c.215C>T |
p.A72V |
Missense |
2/16 |
- |
5 |
2-47635543-C-A |
c.215C>A |
p.A72E |
Missense |
2/16 |
- |
2 |
2-47635543-CA-AC |
c.215_216delinsAC |
p.A72D |
Missense |
2/16 |
- |
2 |
2-47635543-C-G |
c.215C>G |
p.A72G |
Missense |
2/16 |
- |
3 |
2-47635544-A-C |
c.216A>C |
p.A72= |
Synonymous |
2/16 |
- |
2 |
2-47635544-A-G |
c.216A>G |
p.A72= |
Synonymous |
2/16 |
- |
1 |
2-47635544-A-T |
c.216A>T |
p.A72= |
Synonymous |
2/16 |
- |
1 |
2-47635545-A-C |
c.217A>C |
p.K73Q |
Missense |
2/16 |
- |
4 |
2-47635545-AA-CC |
c.217_218delinsCC |
p.K73P |
Missense |
2/16 |
- |
1 |
2-47635545-AAG-TAT |
c.217_219delinsTAT |
p.K73Y |
Missense |
2/16 |
- |
1 |
2-47635545-AA-TG |
c.217_218delinsTG |
p.K73W |
Missense |
2/16 |
- |
1 |
2-47635545-AAG-GAC |
c.217_219delinsGAC |
p.K73D |
Missense |
2/16 |
- |
1 |
2-47635545-AA-GT |
c.217_218delinsGT |
p.K73V |
Missense |
2/16 |
- |
1 |
2-47635545-AA-CT |
c.217_218delinsCT |
p.K73L |
Missense |
2/16 |
- |
1 |
2-47635545-AAG-CAT |
c.217_219delinsCAT |
p.K73H |
Missense |
2/16 |
- |
1 |
2-47635545-AA-GG |
c.217_218delinsGG |
p.K73G |
Missense |
2/16 |
- |
1 |
2-47635545-AA-GC |
c.217_218delinsGC |
p.K73A |
Missense |
2/16 |
- |
2 |
2-47635545-AAG-TTT |
c.217_219delinsTTT |
p.K73F |
Missense |
2/16 |
- |
1 |
2-47635545-A-G |
c.217A>G |
p.K73E |
Missense |
2/16 |
- |
4 |
2-47635545-AAG-TGT |
c.217_219delinsTGT |
p.K73C |
Missense |
2/16 |
- |
1 |
2-47635545-A-T |
c.217A>T |
p.K73* |
Nonsense |
2/16 |
- |
2 |
2-47635541-AGCAAAGAATCT-A |
c.217_227del |
p.K73Efs*5 |
Frameshift |
2/16 |
- |
2 |
2-47635546-A-G |
c.218A>G |
p.K73R |
Missense |
2/16 |
- |
4 |
2-47635546-AG-GC |
c.218_219delinsGC |
p.K73S |
Missense |
2/16 |
- |
1 |
2-47635546-A-T |
c.218A>T |
p.K73M |
Missense |
2/16 |
- |
2 |
2-47635546-AG-TC |
c.218_219delinsTC |
p.K73I |
Missense |
2/16 |
- |
1 |
2-47635546-A-C |
c.218A>C |
p.K73T |
Missense |
2/16 |
- |
2 |
2-47635547-G-C |
c.219G>C |
p.K73N |
Missense |
2/16 |
- |
5 |
2-47635547-G-T |
c.219G>T |
p.K73N |
Missense |
2/16 |
- |
7 |
2-47635547-G-A |
c.219G>A |
p.K73= |
Synonymous |
2/16 |
- |
2 |
2-47635548-A-C |
c.220A>C |
p.N74H |
Missense |
2/16 |
- |
7 |
2-47635548-A-G |
c.220A>G |
p.N74D |
Missense |
2/16 |
- |
3 |
2-47635548-AA-TT |
c.220_221inv |
p.N74F |
Missense |
2/16 |
- |
1 |
2-47635548-AAT-GAG |
c.220_222delinsGAG |
p.N74E |
Missense |
2/16 |
- |
1 |
2-47635548-AA-TG |
c.220_221delinsTG |
p.N74C |
Missense |
2/16 |
- |
1 |
2-47635548-AA-GC |
c.220_221delinsGC |
p.N74A |
Missense |
2/16 |
- |
1 |
2-47635548-AA-GT |
c.220_221delinsGT |
p.N74V |
Missense |
2/16 |
- |
1 |
2-47635548-AA-GG |
c.220_221delinsGG |
p.N74G |
Missense |
2/16 |
- |
1 |
2-47635548-A-T |
c.220A>T |
p.N74Y |
Missense |
2/16 |
- |
2 |
2-47635548-AAT-TGG |
c.220_222delinsTGG |
p.N74W |
Missense |
2/16 |
- |
1 |
2-47635548-AAT-CAA |
c.220_222delinsCAA |
p.N74Q |
Missense |
2/16 |
- |
1 |
2-47635548-AA-CT |
c.220_221delinsCT |
p.N74L |
Missense |
2/16 |
- |
1 |
2-47635548-AA-CC |
c.220_221delinsCC |
p.N74P |
Missense |
2/16 |
- |
1 |
2-47635549-A-C |
c.221A>C |
p.N74T |
Missense |
2/16 |
- |
2 |
2-47635549-A-G |
c.221A>G |
p.N74S |
Missense |
2/16 |
- |
2 |
2-47635549-AT-GG |
c.221_222delinsGG |
p.N74R |
Missense |
2/16 |
- |
1 |
2-47635549-A-T |
c.221A>T |
p.N74I |
Missense |
2/16 |
- |
3 |
2-47635549-AT-TG |
c.221_222delinsTG |
p.N74M |
Missense |
2/16 |
- |
1 |
2-47635550-T-G |
c.222T>G |
p.N74K |
Missense |
2/16 |
- |
3 |
2-47635550-T-A |
c.222T>A |
p.N74K |
Missense |
2/16 |
- |
4 |
2-47635551-CT-AA |
c.223_224delinsAA |
p.L75K |
Missense |
2/16 |
- |
2 |
2-47635550-T-TC |
c.223dup |
p.L75Pfs*7 |
Frameshift |
2/16 |
- |
1 |
2-47635551-C-A |
c.223C>A |
p.L75M |
Missense |
2/16 |
- |
1 |
2-47635551-CTG-ATC |
c.223_225delinsATC |
p.L75I |
Missense |
2/16 |
- |
1 |
2-47635551-CT-GG |
c.223_224delinsGG |
p.L75G |
Missense |
2/16 |
- |
1 |
2-47635551-CTG-TTT |
c.223_225delinsTTT |
p.L75F |
Missense |
2/16 |
- |
1 |
2-47635551-CT-GA |
c.223_224delinsGA |
p.L75E |
Missense |
2/16 |
- |
1 |
2-47635551-CTG-GAC |
c.223_225delinsGAC |
p.L75D |
Missense |
2/16 |
- |
1 |
2-47635551-CTG-TGT |
c.223_225delinsTGT |
p.L75C |
Missense |
2/16 |
- |
1 |
2-47635551-CT-GC |
c.223_224delinsGC |
p.L75A |
Missense |
2/16 |
- |
2 |
2-47635551-CTG-TAT |
c.223_225delinsTAT |
p.L75Y |
Missense |
2/16 |
- |
1 |
2-47635551-CT-TC |
c.223_224delinsTC |
p.L75S |
Missense |
2/16 |
- |
1 |
2-47635551-CTG-AAC |
c.223_225delinsAAC |
p.L75N |
Missense |
2/16 |
- |
1 |
2-47635551-CT-AC |
c.223_224delinsAC |
p.L75T |
Missense |
2/16 |
- |
1 |
2-47635551-C-G |
c.223C>G |
p.L75V |
Missense |
2/16 |
- |
2 |
2-47635551-CT-TG |
c.223_224delinsTG |
p.L75W |
Missense |
2/16 |
- |
1 |
2-47635549-ATC-A |
c.223_224del |
p.L75Afs*6 |
Frameshift |
2/16 |
- |
4 |
2-47635552-TG-AT |
c.224_225delinsAT |
p.L75H |
Missense |
2/16 |
- |
1 |
2-47635552-T-A |
c.224T>A |
p.L75Q |
Missense |
2/16 |
- |
2 |
2-47635552-T-G |
c.224T>G |
p.L75R |
Missense |
2/16 |
- |
2 |
2-47635552-T-C |
c.224T>C |
p.L75P |
Missense |
2/16 |
- |
2 |
2-47635554-C-T |
c.226C>T |
p.Q76* |
Nonsense |
2/16 |
- |
12 |
2-47635554-C-G |
c.226C>G |
p.Q76E |
Missense |
2/16 |
- |
3 |
2-47635554-CAG-TTT |
c.226_228delinsTTT |
p.Q76F |
Missense |
2/16 |
- |
1 |
2-47635554-CA-AT |
c.226_227delinsAT |
p.Q76M |
Missense |
2/16 |
- |
1 |
2-47635554-CA-GG |
c.226_227delinsGG |
p.Q76G |
Missense |
2/16 |
- |
1 |
2-47635554-CAG-AAC |
c.226_228delinsAAC |
p.Q76N |
Missense |
2/16 |
- |
1 |
2-47635554-CAG-ATC |
c.226_228delinsATC |
p.Q76I |
Missense |
2/16 |
- |
1 |
2-47635554-CA-GC |
c.226_227delinsGC |
p.Q76A |
Missense |
2/16 |
- |
2 |
2-47635554-CAG-GAC |
c.226_228delinsGAC |
p.Q76D |
Missense |
2/16 |
- |
1 |
2-47635554-CAG-TGT |
c.226_228delinsTGT |
p.Q76C |
Missense |
2/16 |
- |
1 |
2-47635554-CA-GT |
c.226_227delinsGT |
p.Q76V |
Missense |
2/16 |
- |
1 |
2-47635554-CAG-TAT |
c.226_228delinsTAT |
p.Q76Y |
Missense |
2/16 |
- |
1 |
2-47635554-C-A |
c.226C>A |
p.Q76K |
Missense |
2/16 |
- |
2 |
2-47635554-CA-AC |
c.226_227delinsAC |
p.Q76T |
Missense |
2/16 |
- |
1 |
2-47635554-CA-TG |
c.226_227inv |
p.Q76W |
Missense |
2/16 |
- |
1 |
2-47635554-CA-TC |
c.226_227delinsTC |
p.Q76S |
Missense |
2/16 |
- |
1 |
2-47635555-A-T |
c.227A>T |
p.Q76L |
Missense |
2/16 |
- |
2 |
2-47635555-A-C |
c.227A>C |
p.Q76P |
Missense |
2/16 |
- |
3 |
2-47635555-A-G |
c.227A>G |
p.Q76R |
Missense |
2/16 |
- |
2 |
2-47635556-G-T |
c.228G>T |
p.Q76H |
Missense |
2/16 |
- |
8 |
2-47635556-G-C |
c.228G>C |
p.Q76H |
Missense |
2/16 |
- |
4 |
2-47635556-G-GT |
c.228_229insT |
p.S77* |
Nonsense |
2/16 |
- |
1 |
2-47635554-CAG-C |
c.229_230del |
p.S77Cfs*4 |
Frameshift |
2/16 |
- |
15 |
2-47635557-A-G |
c.229A>G |
p.S77G |
Missense |
2/16 |
- |
3 |
2-47635557-AG-CT |
c.229_230inv |
p.S77L |
Missense |
2/16 |
- |
1 |
2-47635557-AG-GA |
c.229_230delinsGA |
p.S77D |
Missense |
2/16 |
- |
1 |
2-47635557-AG-TT |
c.229_230delinsTT |
p.S77F |
Missense |
2/16 |
- |
1 |
2-47635557-AG-CC |
c.229_230delinsCC |
p.S77P |
Missense |
2/16 |
- |
1 |
2-47635557-AGT-GAG |
c.229_231delinsGAG |
p.S77E |
Missense |
2/16 |
- |
1 |
2-47635557-A-T |
c.229A>T |
p.S77C |
Missense |
2/16 |
- |
2 |
2-47635557-AGT-CAA |
c.229_231delinsCAA |
p.S77Q |
Missense |
2/16 |
- |
1 |
2-47635557-AG-CA |
c.229_230delinsCA |
p.S77H |
Missense |
2/16 |
- |
1 |
2-47635557-AG-GC |
c.229_230delinsGC |
p.S77A |
Missense |
2/16 |
- |
1 |
2-47635557-AG-GT |
c.229_230delinsGT |
p.S77V |
Missense |
2/16 |
- |
1 |
2-47635557-AGT-TGG |
c.229_231delinsTGG |
p.S77W |
Missense |
2/16 |
- |
1 |
2-47635557-AG-TA |
c.229_230delinsTA |
p.S77Y |
Missense |
2/16 |
- |
1 |
2-47635558-AG-A |
c.230del |
p.S77Mfs*7 |
Frameshift |
2/16 |
- |
1 |
2-47635558-GT-AG |
c.230_231delinsAG |
p.S77K |
Missense |
2/16 |
- |
1 |
2-47635558-G-T |
c.230G>T |
p.S77I |
Missense |
2/16 |
- |
3 |
2-47635558-GT-TG |
c.230_231delinsTG |
p.S77M |
Missense |
2/16 |
- |
1 |
2-47635558-G-A |
c.230G>A |
p.S77N |
Missense |
2/16 |
- |
2 |
2-47635558-G-C |
c.230G>C |
p.S77T |
Missense |
2/16 |
- |
2 |
2-47635559-T-G |
c.231T>G |
p.S77R |
Missense |
2/16 |
- |
4 |
2-47635559-T-A |
c.231T>A |
p.S77R |
Missense |
2/16 |
- |
2 |
2-47635557-A-C |
c.229A>C |
p.S77R |
Missense |
2/16 |
- |
2 |
2-47635560-G-A |
c.232G>A |
p.V78I |
Missense |
2/16 |
- |
10 |
2-47635560-GT-TA |
c.232_233delinsTA |
p.V78Y |
Missense |
2/16 |
- |
1 |
2-47635560-GT-AC |
c.232_233inv |
p.V78T |
Missense |
2/16 |
- |
1 |
2-47635560-GTT-TGG |
c.232_234delinsTGG |
p.V78W |
Missense |
2/16 |
- |
1 |
2-47635560-GT-CA |
c.232_233delinsCA |
p.V78H |
Missense |
2/16 |
- |
1 |
2-47635560-G-C |
c.232G>C |
p.V78L |
Missense |
2/16 |
- |
2 |
2-47635560-GTT-ATG |
c.232_234delinsATG |
p.V78M |
Missense |
2/16 |
- |
1 |
2-47635560-GTT-AAG |
c.232_234delinsAAG |
p.V78K |
Missense |
2/16 |
- |
1 |
2-47635560-GT-TG |
c.232_233delinsTG |
p.V78C |
Missense |
2/16 |
- |
1 |
2-47635560-GT-CC |
c.232_233delinsCC |
p.V78P |
Missense |
2/16 |
- |
1 |
2-47635560-GT-AA |
c.232_233delinsAA |
p.V78N |
Missense |
2/16 |
- |
1 |
2-47635560-GT-AG |
c.232_233delinsAG |
p.V78S |
Missense |
2/16 |
- |
1 |
2-47635560-G-T |
c.232G>T |
p.V78F |
Missense |
2/16 |
- |
1 |
2-47635560-GTT-CAA |
c.232_234delinsCAA |
p.V78Q |
Missense |
2/16 |
- |
1 |
2-47635560-GT-CG |
c.232_233delinsCG |
p.V78R |
Missense |
2/16 |
- |
1 |
2-47635561-T-A |
c.233T>A |
p.V78D |
Missense |
2/16 |
- |
2 |
2-47635561-T-G |
c.233T>G |
p.V78G |
Missense |
2/16 |
- |
3 |
2-47635561-TT-AG |
c.233_234delinsAG |
p.V78E |
Missense |
2/16 |
- |
1 |
2-47635561-T-C |
c.233T>C |
p.V78A |
Missense |
2/16 |
- |
3 |
2-47635563-G-A |
c.235G>A |
p.V79M |
Missense |
2/16 |
- |
5 |
2-47635563-GTG-AAC |
c.235_237delinsAAC |
p.V79N |
Missense |
2/16 |
- |
1 |
2-47635563-G-C |
c.235G>C |
p.V79L |
Missense |
2/16 |
- |
2 |
2-47635563-G-T |
c.235G>T |
p.V79L |
Missense |
2/16 |
- |
2 |
2-47635563-GTG-TTT |
c.235_237delinsTTT |
p.V79F |
Missense |
2/16 |
- |
1 |
2-47635563-GT-AA |
c.235_236delinsAA |
p.V79K |
Missense |
2/16 |
- |
1 |
2-47635563-GTG-CAT |
c.235_237delinsCAT |
p.V79H |
Missense |
2/16 |
- |
1 |
2-47635563-GTG-ATC |
c.235_237delinsATC |
p.V79I |
Missense |
2/16 |
- |
1 |
2-47635563-GT-CC |
c.235_236delinsCC |
p.V79P |
Missense |
2/16 |
- |
1 |
2-47635563-GTG-TGT |
c.235_237delinsTGT |
p.V79C |
Missense |
2/16 |
- |
1 |
2-47635563-GT-AC |
c.235_236inv |
p.V79T |
Missense |
2/16 |
- |
1 |
2-47635563-GT-TG |
c.235_236delinsTG |
p.V79W |
Missense |
2/16 |
- |
1 |
2-47635563-GT-TC |
c.235_236delinsTC |
p.V79S |
Missense |
2/16 |
- |
1 |
2-47635563-GT-AG |
c.235_236delinsAG |
p.V79R |
Missense |
2/16 |
- |
1 |
2-47635563-GT-CA |
c.235_236delinsCA |
p.V79Q |
Missense |
2/16 |
- |
1 |
2-47635563-GTG-TAT |
c.235_237delinsTAT |
p.V79Y |
Missense |
2/16 |
- |
1 |
2-47635562-T-TG |
c.235dup |
p.V79Gfs*3 |
Frameshift |
2/16 |
- |
1 |
2-47635564-T-C |
c.236T>C |
p.V79A |
Missense |
2/16 |
- |
2 |
2-47635564-T-A |
c.236T>A |
p.V79E |
Missense |
2/16 |
- |
2 |
2-47635564-TG-AC |
c.236_237delinsAC |
p.V79D |
Missense |
2/16 |
- |
1 |
2-47635564-T-G |
c.236T>G |
p.V79G |
Missense |
2/16 |
- |
2 |
2-47635565-G-T |
c.237G>T |
p.V79= |
Synonymous |
2/16 |
- |
2 |
2-47635565-G-A |
c.237G>A |
p.V79= |
Synonymous |
2/16 |
- |
1 |
2-47635565-G-C |
c.237G>C |
p.V79= |
Synonymous |
2/16 |
- |
1 |
2-47635566-CTT-AAG |
c.238_240inv |
p.L80K |
Missense |
2/16 |
- |
1 |
2-47635566-CT-AA |
c.238_239delinsAA |
p.L80N |
Missense |
2/16 |
- |
1 |
2-47635566-C-A |
c.238C>A |
p.L80I |
Missense |
2/16 |
- |
2 |
2-47635566-CT-AG |
c.238_239inv |
p.L80S |
Missense |
2/16 |
- |
1 |
2-47635566-CTT-ATG |
c.238_240delinsATG |
p.L80M |
Missense |
2/16 |
- |
1 |
2-47635566-CT-GG |
c.238_239delinsGG |
p.L80G |
Missense |
2/16 |
- |
1 |
2-47635566-CTT-GAG |
c.238_240delinsGAG |
p.L80E |
Missense |
2/16 |
- |
1 |
2-47635566-CT-GC |
c.238_239delinsGC |
p.L80A |
Missense |
2/16 |
- |
1 |
2-47635566-C-T |
c.238C>T |
p.L80F |
Missense |
2/16 |
- |
2 |
2-47635566-CT-GA |
c.238_239delinsGA |
p.L80D |
Missense |
2/16 |
- |
1 |
2-47635566-CT-TG |
c.238_239delinsTG |
p.L80C |
Missense |
2/16 |
- |
1 |
2-47635566-CT-TA |
c.238_239delinsTA |
p.L80Y |
Missense |
2/16 |
- |
1 |
2-47635566-CT-AC |
c.238_239delinsAC |
p.L80T |
Missense |
2/16 |
- |
1 |
2-47635566-C-G |
c.238C>G |
p.L80V |
Missense |
2/16 |
- |
3 |
2-47635566-CTT-TGG |
c.238_240delinsTGG |
p.L80W |
Missense |
2/16 |
- |
1 |
2-47635567-T-A |
c.239T>A |
p.L80H |
Missense |
2/16 |
- |
1 |
2-47635567-T-C |
c.239T>C |
p.L80P |
Missense |
2/16 |
- |
2 |
2-47635567-TT-AA |
c.239_240inv |
p.L80Q |
Missense |
2/16 |
- |
1 |
2-47635567-T-G |
c.239T>G |
p.L80R |
Missense |
2/16 |
- |
2 |
2-47635569-AG-GC |
c.241_242delinsGC |
p.S81A |
Missense |
2/16 |
- |
1 |
2-47635569-AGT-TGG |
c.241_243delinsTGG |
p.S81W |
Missense |
2/16 |
- |
1 |
2-47635569-A-T |
c.241A>T |
p.S81C |
Missense |
2/16 |
- |
3 |
2-47635569-AG-TA |
c.241_242delinsTA |
p.S81Y |
Missense |
2/16 |
- |
1 |
2-47635569-A-G |
c.241A>G |
p.S81G |
Missense |
2/16 |
- |
2 |
2-47635569-AG-CT |
c.241_242inv |
p.S81L |
Missense |
2/16 |
- |
1 |
2-47635569-AG-CA |
c.241_242delinsCA |
p.S81H |
Missense |
2/16 |
- |
1 |
2-47635569-AGT-GAG |
c.241_243delinsGAG |
p.S81E |
Missense |
2/16 |
- |
1 |
2-47635569-AG-TT |
c.241_242delinsTT |
p.S81F |
Missense |
2/16 |
- |
1 |
2-47635569-AG-GA |
c.241_242delinsGA |
p.S81D |
Missense |
2/16 |
- |
1 |
2-47635569-AG-GT |
c.241_242delinsGT |
p.S81V |
Missense |
2/16 |
- |
1 |
2-47635569-AGT-CAA |
c.241_243delinsCAA |
p.S81Q |
Missense |
2/16 |
- |
1 |
2-47635569-AG-CC |
c.241_242delinsCC |
p.S81P |
Missense |
2/16 |
- |
1 |
2-47635570-G-A |
c.242G>A |
p.S81N |
Missense |
2/16 |
- |
3 |
2-47635570-G-C |
c.242G>C |
p.S81T |
Missense |
2/16 |
- |
3 |
2-47635570-GT-TG |
c.242_243delinsTG |
p.S81M |
Missense |
2/16 |
- |
1 |
2-47635570-GT-AG |
c.242_243delinsAG |
p.S81K |
Missense |
2/16 |
- |
1 |
2-47635570-G-T |
c.242G>T |
p.S81I |
Missense |
2/16 |
- |
4 |
2-47635570-G-GA |
c.242_243insA |
p.S81Rfs*2 |
Frameshift |
2/16 |
- |
1 |
2-47635571-T-G |
c.243T>G |
p.S81R |
Missense |
2/16 |
- |
2 |
2-47635571-T-A |
c.243T>A |
p.S81R |
Missense |
2/16 |
- |
2 |
2-47635569-A-C |
c.241A>C |
p.S81R |
Missense |
2/16 |
- |
2 |
2-47635571-TAAAATGAATTTTGAATCTTTTGTAAAAGAT-CTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG |
c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG |
p.K82_D91delins* |
MultiAAMissense |
2/16 |
- |
3 |
2-47635572-AAA-TAT |
c.244_246delinsTAT |
p.K82Y |
Missense |
2/16 |
- |
1 |
2-47635572-AAA-CAT |
c.244_246delinsCAT |
p.K82H |
Missense |
2/16 |
- |
1 |
2-47635572-AAA-TGG |
c.244_246delinsTGG |
p.K82W |
Missense |
2/16 |
- |
1 |
2-47635572-AA-GG |
c.244_245delinsGG |
p.K82G |
Missense |
2/16 |
- |
1 |
2-47635572-AAA-TTT |
c.244_246inv |
p.K82F |
Missense |
2/16 |
- |
1 |
2-47635572-A-G |
c.244A>G |
p.K82E |
Missense |
2/16 |
- |
4 |
2-47635572-AAA-TGT |
c.244_246delinsTGT |
p.K82C |
Missense |
2/16 |
- |
1 |
2-47635572-AAA-GAC |
c.244_246delinsGAC |
p.K82D |
Missense |
2/16 |
- |
1 |
2-47635572-AA-CT |
c.244_245delinsCT |
p.K82L |
Missense |
2/16 |
- |
1 |
2-47635572-AA-CC |
c.244_245delinsCC |
p.K82P |
Missense |
2/16 |
- |
1 |
2-47635572-AA-GT |
c.244_245delinsGT |
p.K82V |
Missense |
2/16 |
- |
1 |
2-47635572-A-C |
c.244A>C |
p.K82Q |
Missense |
2/16 |
- |
2 |
2-47635572-AA-GC |
c.244_245delinsGC |
p.K82A |
Missense |
2/16 |
- |
2 |
2-47635572-A-T |
c.244A>T |
p.K82* |
Nonsense |
2/16 |
- |
6 |
2-47635571-T-TAATTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTAAGCGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAGGGGAGCTGAATATGTATCTGCAAGAGAGTGGATGAGGATTTGCTTTGAGCTTTTAGAGCTCTTA |
c.245_246insTTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTAAGCGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAGGGGAGCTGAATATGTATCTGCAAGAGAGTGGATGAGGATTTGCTTTGAGCTTTTAGAGCTCTTAAA |
p.K82Nfs*27 |
Frameshift |
2/16 |
- |
1 |
2-47635573-A-T |
c.245A>T |
p.K82I |
Missense |
2/16 |
- |
3 |
2-47635573-A-G |
c.245A>G |
p.K82R |
Missense |
2/16 |
- |
2 |
2-47635573-AA-TG |
c.245_246delinsTG |
p.K82M |
Missense |
2/16 |
- |
1 |
2-47635573-A-C |
c.245A>C |
p.K82T |
Missense |
2/16 |
- |
3 |
2-47635573-AA-GC |
c.245_246delinsGC |
p.K82S |
Missense |
2/16 |
- |
1 |
2-47635574-A-C |
c.246A>C |
p.K82N |
Missense |
2/16 |
- |
2 |
2-47635574-A-T |
c.246A>T |
p.K82N |
Missense |
2/16 |
- |
3 |
2-47635575-A-G |
c.247A>G |
p.M83V |
Missense |
2/16 |
- |
7 |
2-47635575-A-C |
c.247A>C |
p.M83L |
Missense |
2/16 |
- |
4 |
2-47635575-A-T |
c.247A>T |
p.M83L |
Missense |
2/16 |
- |
3 |
2-47635575-ATG-TGT |
c.247_249delinsTGT |
p.M83C |
Missense |
2/16 |
- |
1 |
2-47635575-ATG-TTT |
c.247_249delinsTTT |
p.M83F |
Missense |
2/16 |
- |
1 |
2-47635575-ATG-TAT |
c.247_249delinsTAT |
p.M83Y |
Missense |
2/16 |
- |
1 |
2-47635575-AT-TG |
c.247_248delinsTG |
p.M83W |
Missense |
2/16 |
- |
1 |
2-47635575-ATG-CAT |
c.247_249inv |
p.M83H |
Missense |
2/16 |
- |
1 |
2-47635575-AT-CC |
c.247_248delinsCC |
p.M83P |
Missense |
2/16 |
- |
1 |
2-47635575-AT-GG |
c.247_248delinsGG |
p.M83G |
Missense |
2/16 |
- |
1 |
2-47635575-AT-CA |
c.247_248delinsCA |
p.M83Q |
Missense |
2/16 |
- |
1 |
2-47635575-AT-GA |
c.247_248delinsGA |
p.M83E |
Missense |
2/16 |
- |
1 |
2-47635575-ATG-GAC |
c.247_249delinsGAC |
p.M83D |
Missense |
2/16 |
- |
1 |
2-47635575-AT-GC |
c.247_248delinsGC |
p.M83A |
Missense |
2/16 |
- |
1 |
2-47635576-T-G |
c.248T>G |
p.M83R |
Missense |
2/16 |
- |
2 |
2-47635576-TG-AC |
c.248_249delinsAC |
p.M83N |
Missense |
2/16 |
- |
1 |
2-47635576-T-A |
c.248T>A |
p.M83K |
Missense |
2/16 |
- |
2 |
2-47635576-T-C |
c.248T>C |
p.M83T |
Missense |
2/16 |
- |
2 |
2-47635576-TG-GC |
c.248_249delinsGC |
p.M83S |
Missense |
2/16 |
- |
1 |
2-47635577-G-T |
c.249G>T |
p.M83I |
Missense |
2/16 |
- |
8 |
2-47635577-G-C |
c.249G>C |
p.M83I |
Missense |
2/16 |
- |
2 |
2-47635577-G-A |
c.249G>A |
p.M83I |
Missense |
2/16 |
- |
2 |
2-47635578-A-G |
c.250A>G |
p.N84D |
Missense |
2/16 |
- |
2 |
2-47635578-AA-GC |
c.250_251delinsGC |
p.N84A |
Missense |
2/16 |
- |
1 |
2-47635578-AA-TT |
c.250_251inv |
p.N84F |
Missense |
2/16 |
- |
1 |
2-47635578-AA-TG |
c.250_251delinsTG |
p.N84C |
Missense |
2/16 |
- |
1 |
2-47635578-AAT-GAG |
c.250_252delinsGAG |
p.N84E |
Missense |
2/16 |
- |
1 |
2-47635578-AA-GG |
c.250_251delinsGG |
p.N84G |
Missense |
2/16 |
- |
1 |
2-47635578-A-C |
c.250A>C |
p.N84H |
Missense |
2/16 |
- |
2 |
2-47635578-A-T |
c.250A>T |
p.N84Y |
Missense |
2/16 |
- |
2 |
2-47635578-AAT-TGG |
c.250_252delinsTGG |
p.N84W |
Missense |
2/16 |
- |
1 |
2-47635578-AA-GT |
c.250_251delinsGT |
p.N84V |
Missense |
2/16 |
- |
1 |
2-47635578-AAT-CAA |
c.250_252delinsCAA |
p.N84Q |
Missense |
2/16 |
- |
1 |
2-47635578-AA-CC |
c.250_251delinsCC |
p.N84P |
Missense |
2/16 |
- |
1 |
2-47635578-AA-CT |
c.250_251delinsCT |
p.N84L |
Missense |
2/16 |
- |
1 |
2-47635579-A-T |
c.251A>T |
p.N84I |
Missense |
2/16 |
- |
4 |
2-47635579-A-C |
c.251A>C |
p.N84T |
Missense |
2/16 |
- |
2 |
2-47635579-A-G |
c.251A>G |
p.N84S |
Missense |
2/16 |
- |
2 |
2-47635579-AT-GG |
c.251_252delinsGG |
p.N84R |
Missense |
2/16 |
- |
1 |
2-47635579-AT-TG |
c.251_252delinsTG |
p.N84M |
Missense |
2/16 |
- |
1 |
2-47635577-GA-G |
c.251del |
p.N84Ifs*6 |
Frameshift |
2/16 |
- |
3 |
2-47635580-T-C |
c.252T>C |
p.N84= |
Synonymous |
2/16 |
- |
3 |
2-47635580-T-G |
c.252T>G |
p.N84K |
Missense |
2/16 |
- |
3 |
2-47635580-T-A |
c.252T>A |
p.N84K |
Missense |
2/16 |
- |
2 |
2-47635579-A-ATTAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGT |
c.253_254insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTT |
p.N84_F85ins* |
Nonsense |
2/16 |
- |
1 |
2-47635581-T-TAA |
c.253_254insAA |
p.F85* |
Nonsense |
2/16 |
- |
1 |
2-47635581-TT-AC |
c.253_254delinsAC |
p.F85T |
Missense |
2/16 |
- |
1 |
2-47635581-TT-CG |
c.253_254delinsCG |
p.F85R |
Missense |
2/16 |
- |
1 |
2-47635581-TT-CC |
c.253_254delinsCC |
p.F85P |
Missense |
2/16 |
- |
1 |
2-47635581-TTT-AAG |
c.253_255delinsAAG |
p.F85K |
Missense |
2/16 |
- |
1 |
2-47635581-T-C |
c.253T>C |
p.F85L |
Missense |
2/16 |
- |
3 |
2-47635583-T-A |
c.255T>A |
p.F85L |
Missense |
2/16 |
- |
3 |
2-47635583-T-G |
c.255T>G |
p.F85L |
Missense |
2/16 |
- |
3 |
2-47635581-T-A |
c.253T>A |
p.F85I |
Missense |
2/16 |
- |
2 |
2-47635581-TT-AA |
c.253_254inv |
p.F85N |
Missense |
2/16 |
- |
1 |
2-47635581-TTT-CAA |
c.253_255delinsCAA |
p.F85Q |
Missense |
2/16 |
- |
1 |
2-47635581-TTT-ATG |
c.253_255delinsATG |
p.F85M |
Missense |
2/16 |
- |
1 |
2-47635581-TT-GG |
c.253_254delinsGG |
p.F85G |
Missense |
2/16 |
- |
1 |
2-47635581-TTT-GAG |
c.253_255delinsGAG |
p.F85E |
Missense |
2/16 |
- |
1 |
2-47635581-TT-CA |
c.253_254delinsCA |
p.F85H |
Missense |
2/16 |
- |
1 |
2-47635581-TT-GA |
c.253_254delinsGA |
p.F85D |
Missense |
2/16 |
- |
1 |
2-47635581-TT-GC |
c.253_254delinsGC |
p.F85A |
Missense |
2/16 |
- |
1 |
2-47635581-T-G |
c.253T>G |
p.F85V |
Missense |
2/16 |
- |
2 |
2-47635579-ATT-A |
c.254_255del |
p.F85* |
Frameshift |
2/16 |
- |
1 |
2-47635582-T-C |
c.254T>C |
p.F85S |
Missense |
2/16 |
- |
2 |
2-47635582-TT-GG |
c.254_255delinsGG |
p.F85W |
Missense |
2/16 |
- |
1 |
2-47635582-T-A |
c.254T>A |
p.F85Y |
Missense |
2/16 |
- |
2 |
2-47635582-T-G |
c.254T>G |
p.F85C |
Missense |
2/16 |
- |
2 |
2-47635579-A-AT |
c.255dup |
p.E86* |
Nonsense |
2/16 |
- |
4 |
2-47635583-TTG-T |
c.255_256del |
p.F85Lfs*14 |
Frameshift |
2/16 |
- |
3 |
2-47635583-T-C |
c.255T>C |
p.F85= |
Synonymous |
2/16 |
- |
1 |
2-47635584-G-A |
c.256G>A |
p.E86K |
Missense |
2/16 |
- |
3 |
2-47635584-G-T |
c.256G>T |
p.E86* |
Nonsense |
2/16 |
- |
5 |
2-47635584-GA-AT |
c.256_257delinsAT |
p.E86I |
Missense |
2/16 |
- |
1 |
2-47635584-G-C |
c.256G>C |
p.E86Q |
Missense |
2/16 |
- |
3 |
2-47635584-GAA-TGG |
c.256_258delinsTGG |
p.E86W |
Missense |
2/16 |
- |
1 |
2-47635584-GAA-TTT |
c.256_258delinsTTT |
p.E86F |
Missense |
2/16 |
- |
1 |
2-47635584-GAA-TAT |
c.256_258delinsTAT |
p.E86Y |
Missense |
2/16 |
- |
1 |
2-47635584-GAA-AAC |
c.256_258delinsAAC |
p.E86N |
Missense |
2/16 |
- |
1 |
2-47635584-GA-TC |
c.256_257inv |
p.E86S |
Missense |
2/16 |
- |
1 |
2-47635584-GAA-TGT |
c.256_258delinsTGT |
p.E86C |
Missense |
2/16 |
- |
1 |
2-47635584-GA-CC |
c.256_257delinsCC |
p.E86P |
Missense |
2/16 |
- |
1 |
2-47635584-GAA-CAT |
c.256_258delinsCAT |
p.E86H |
Missense |
2/16 |
- |
1 |
2-47635584-GA-AC |
c.256_257delinsAC |
p.E86T |
Missense |
2/16 |
- |
1 |
2-47635584-GA-AG |
c.256_257delinsAG |
p.E86R |
Missense |
2/16 |
- |
1 |
2-47635584-GA-CT |
c.256_257delinsCT |
p.E86L |
Missense |
2/16 |
- |
1 |
2-47635584-GAA-ATG |
c.256_258delinsATG |
p.E86M |
Missense |
2/16 |
- |
1 |
2-47635585-A-C |
c.257A>C |
p.E86A |
Missense |
2/16 |
- |
3 |
2-47635585-A-T |
c.257A>T |
p.E86V |
Missense |
2/16 |
- |
2 |
2-47635585-A-G |
c.257A>G |
p.E86G |
Missense |
2/16 |
- |
2 |
2-47635586-A-C |
c.258A>C |
p.E86D |
Missense |
2/16 |
- |
3 |
2-47635586-A-T |
c.258A>T |
p.E86D |
Missense |
2/16 |
- |
3 |
2-47635587-TC-CG |
c.259_260delinsCG |
p.S87R |
Missense |
2/16 |
- |
2 |
2-47635587-T-C |
c.259T>C |
p.S87P |
Missense |
2/16 |
- |
2 |
2-47635587-TC-AT |
c.259_260delinsAT |
p.S87I |
Missense |
2/16 |
- |
1 |
2-47635587-TCT-ATG |
c.259_261delinsATG |
p.S87M |
Missense |
2/16 |
- |
1 |
2-47635587-TCT-GAG |
c.259_261delinsGAG |
p.S87E |
Missense |
2/16 |
- |
1 |
2-47635587-TC-GA |
c.259_260inv |
p.S87D |
Missense |
2/16 |
- |
1 |
2-47635587-TC-CA |
c.259_260delinsCA |
p.S87H |
Missense |
2/16 |
- |
1 |
2-47635587-TC-CT |
c.259_260delinsCT |
p.S87L |
Missense |
2/16 |
- |
2 |
2-47635587-T-G |
c.259T>G |
p.S87A |
Missense |
2/16 |
- |
2 |
2-47635587-TC-AA |
c.259_260delinsAA |
p.S87N |
Missense |
2/16 |
- |
1 |
2-47635587-TC-GG |
c.259_260delinsGG |
p.S87G |
Missense |
2/16 |
- |
1 |
2-47635587-TC-GT |
c.259_260delinsGT |
p.S87V |
Missense |
2/16 |
- |
1 |
2-47635587-TCT-AAG |
c.259_261delinsAAG |
p.S87K |
Missense |
2/16 |
- |
1 |
2-47635587-T-A |
c.259T>A |
p.S87T |
Missense |
2/16 |
- |
3 |
2-47635587-TCT-CAA |
c.259_261delinsCAA |
p.S87Q |
Missense |
2/16 |
- |
1 |
2-47635588-C-G |
c.260C>G |
p.S87C |
Missense |
2/16 |
- |
11 |
2-47635588-C-A |
c.260C>A |
p.S87Y |
Missense |
2/16 |
- |
6 |
2-47635588-CT-GG |
c.260_261delinsGG |
p.S87W |
Missense |
2/16 |
- |
1 |
2-47635588-C-T |
c.260C>T |
p.S87F |
Missense |
2/16 |
- |
2 |
2-47635589-T-G |
c.261T>G |
p.S87= |
Synonymous |
2/16 |
- |
1 |
2-47635589-T-C |
c.261T>C |
p.S87= |
Synonymous |
2/16 |
- |
1 |
2-47635589-T-A |
c.261T>A |
p.S87= |
Synonymous |
2/16 |
- |
1 |
2-47635590-T-A |
c.262T>A |
p.F88I |
Missense |
2/16 |
- |
2 |
2-47635590-TT-AA |
c.262_263inv |
p.F88N |
Missense |
2/16 |
- |
1 |
2-47635590-TTT-ATG |
c.262_264delinsATG |
p.F88M |
Missense |
2/16 |
- |
1 |
2-47635590-TT-CA |
c.262_263delinsCA |
p.F88H |
Missense |
2/16 |
- |
1 |
2-47635590-TT-CC |
c.262_263delinsCC |
p.F88P |
Missense |
2/16 |
- |
1 |
2-47635590-TTT-AAG |
c.262_264delinsAAG |
p.F88K |
Missense |
2/16 |
- |
1 |
2-47635590-T-C |
c.262T>C |
p.F88L |
Missense |
2/16 |
- |
3 |
2-47635592-T-A |
c.264T>A |
p.F88L |
Missense |
2/16 |
- |
3 |
2-47635592-T-G |
c.264T>G |
p.F88L |
Missense |
2/16 |
- |
3 |
2-47635590-TT-GA |
c.262_263delinsGA |
p.F88D |
Missense |
2/16 |
- |
1 |
2-47635590-TT-GG |
c.262_263delinsGG |
p.F88G |
Missense |
2/16 |
- |
1 |
2-47635590-TTT-GAG |
c.262_264delinsGAG |
p.F88E |
Missense |
2/16 |
- |
1 |
2-47635590-TT-AC |
c.262_263delinsAC |
p.F88T |
Missense |
2/16 |
- |
1 |
2-47635590-TT-CG |
c.262_263delinsCG |
p.F88R |
Missense |
2/16 |
- |
1 |
2-47635590-TTT-CAA |
c.262_264delinsCAA |
p.F88Q |
Missense |
2/16 |
- |
1 |
2-47635590-T-G |
c.262T>G |
p.F88V |
Missense |
2/16 |
- |
2 |
2-47635590-TT-GC |
c.262_263delinsGC |
p.F88A |
Missense |
2/16 |
- |
1 |
2-47635588-CTT-C |
c.263_264del |
p.F88Cfs*11 |
Frameshift |
2/16 |
- |
4 |
2-47635591-T-G |
c.263T>G |
p.F88C |
Missense |
2/16 |
- |
3 |
2-47635591-T-C |
c.263T>C |
p.F88S |
Missense |
2/16 |
- |
2 |
2-47635591-T-A |
c.263T>A |
p.F88Y |
Missense |
2/16 |
- |
2 |
2-47635591-TT-GG |
c.263_264delinsGG |
p.F88W |
Missense |
2/16 |
- |
1 |
2-47635592-T-C |
c.264T>C |
p.F88= |
Synonymous |
2/16 |
- |
1 |
2-47635588-C-CT |
c.264dup |
p.V89Cfs*11 |
Frameshift |
2/16 |
- |
3 |
2-47635593-G-T |
c.265G>T |
p.V89L |
Missense |
2/16 |
- |
5 |
2-47635593-G-C |
c.265G>C |
p.V89L |
Missense |
2/16 |
- |
4 |
2-47635593-GTA-TAT |
c.265_267delinsTAT |
p.V89Y |
Missense |
2/16 |
- |
1 |
2-47635593-GT-CC |
c.265_266delinsCC |
p.V89P |
Missense |
2/16 |
- |
1 |
2-47635593-GTA-TGG |
c.265_267delinsTGG |
p.V89W |
Missense |
2/16 |
- |
1 |
2-47635593-GT-CA |
c.265_266delinsCA |
p.V89Q |
Missense |
2/16 |
- |
1 |
2-47635593-GT-AG |
c.265_266delinsAG |
p.V89R |
Missense |
2/16 |
- |
1 |
2-47635593-GT-TC |
c.265_266delinsTC |
p.V89S |
Missense |
2/16 |
- |
1 |
2-47635593-GT-AC |
c.265_266inv |
p.V89T |
Missense |
2/16 |
- |
1 |
2-47635593-GTA-CAT |
c.265_267delinsCAT |
p.V89H |
Missense |
2/16 |
- |
1 |
2-47635593-GTA-TGT |
c.265_267delinsTGT |
p.V89C |
Missense |
2/16 |
- |
2 |
2-47635593-GTA-ATG |
c.265_267delinsATG |
p.V89M |
Missense |
2/16 |
- |
1 |
2-47635593-GTA-AAC |
c.265_267delinsAAC |
p.V89N |
Missense |
2/16 |
- |
1 |
2-47635593-G-A |
c.265G>A |
p.V89I |
Missense |
2/16 |
- |
3 |
2-47635593-GTA-TTT |
c.265_267delinsTTT |
p.V89F |
Missense |
2/16 |
- |
1 |
2-47635593-GT-AA |
c.265_266delinsAA |
p.V89K |
Missense |
2/16 |
- |
1 |
2-47635594-T-C |
c.266T>C |
p.V89A |
Missense |
2/16 |
- |
14 |
2-47635594-TA-AC |
c.266_267delinsAC |
p.V89D |
Missense |
2/16 |
- |
2 |
2-47635594-T-A |
c.266T>A |
p.V89E |
Missense |
2/16 |
- |
2 |
2-47635594-T-G |
c.266T>G |
p.V89G |
Missense |
2/16 |
- |
2 |
2-47635595-A-G |
c.267A>G |
p.V89= |
Synonymous |
2/16 |
- |
3 |
2-47635595-A-C |
c.267A>C |
p.V89= |
Synonymous |
2/16 |
- |
2 |
2-47635595-47635596---AAAGATCTTCTTCTGGTTCGTC |
c.269_290dup |
p.Y98Rfs*9 |
frameshift_variant |
2/16 |
- |
1 |
2-47635595-A-T |
c.267A>T |
p.V89= |
Synonymous |
2/16 |
- |
1 |
2-47635596-A-G |
c.268A>G |
p.K90E |
Missense |
2/16 |
- |
2 |
2-47635596-AA-GG |
c.268_269delinsGG |
p.K90G |
Missense |
2/16 |
- |
1 |
2-47635596-AAA-CAT |
c.268_270delinsCAT |
p.K90H |
Missense |
2/16 |
- |
1 |
2-47635596-AAA-GAC |
c.268_270delinsGAC |
p.K90D |
Missense |
2/16 |
- |
1 |
2-47635596-AAA-TTT |
c.268_270inv |
p.K90F |
Missense |
2/16 |
- |
1 |
2-47635596-AAA-TGT |
c.268_270delinsTGT |
p.K90C |
Missense |
2/16 |
- |
1 |
2-47635596-AA-GC |
c.268_269delinsGC |
p.K90A |
Missense |
2/16 |
- |
1 |
2-47635596-AA-CT |
c.268_269delinsCT |
p.K90L |
Missense |
2/16 |
- |
1 |
2-47635596-AA-CC |
c.268_269delinsCC |
p.K90P |
Missense |
2/16 |
- |
1 |
2-47635596-AAA-TAT |
c.268_270delinsTAT |
p.K90Y |
Missense |
2/16 |
- |
1 |
2-47635596-AAA-TGG |
c.268_270delinsTGG |
p.K90W |
Missense |
2/16 |
- |
1 |
2-47635596-AA-GT |
c.268_269delinsGT |
p.K90V |
Missense |
2/16 |
- |
1 |
2-47635596-A-C |
c.268A>C |
p.K90Q |
Missense |
2/16 |
- |
2 |
2-47635597-A-G |
c.269A>G |
p.K90R |
Missense |
2/16 |
- |
3 |
2-47635597-A-T |
c.269A>T |
p.K90I |
Missense |
2/16 |
- |
2 |
2-47635597-AA-TG |
c.269_270delinsTG |
p.K90M |
Missense |
2/16 |
- |
1 |
2-47635597-A-C |
c.269A>C |
p.K90T |
Missense |
2/16 |
- |
2 |
2-47635597-AA-GC |
c.269_270delinsGC |
p.K90S |
Missense |
2/16 |
- |
1 |
2-47635598-A-G |
c.270A>G |
p.K90= |
Synonymous |
2/16 |
- |
1 |
2-47635598-A-C |
c.270A>C |
p.K90N |
Missense |
2/16 |
- |
2 |
2-47635598-A-T |
c.270A>T |
p.K90N |
Missense |
2/16 |
- |
2 |
2-47635599-AG-A |
c.271del |
p.D91Ifs*83 |
Frameshift |
2/16 |
- |
1 |
2-47635599-G-C |
c.271G>C |
p.D91H |
Missense |
2/16 |
- |
4 |
2-47635599-GA-TT |
c.271_272delinsTT |
p.D91F |
Missense |
2/16 |
- |
1 |
2-47635599-GA-TG |
c.271_272delinsTG |
p.D91C |
Missense |
2/16 |
- |
1 |
2-47635599-GA-AT |
c.271_272delinsAT |
p.D91I |
Missense |
2/16 |
- |
1 |
2-47635599-G-T |
c.271G>T |
p.D91Y |
Missense |
2/16 |
- |
4 |
2-47635599-G-A |
c.271G>A |
p.D91N |
Missense |
2/16 |
- |
2 |
2-47635599-GAT-TGG |
c.271_273delinsTGG |
p.D91W |
Missense |
2/16 |
- |
1 |
2-47635599-GA-CG |
c.271_272delinsCG |
p.D91R |
Missense |
2/16 |
- |
1 |
2-47635599-GA-AG |
c.271_272delinsAG |
p.D91S |
Missense |
2/16 |
- |
1 |
2-47635599-GA-AC |
c.271_272delinsAC |
p.D91T |
Missense |
2/16 |
- |
1 |
2-47635599-GAT-ATG |
c.271_273delinsATG |
p.D91M |
Missense |
2/16 |
- |
1 |
2-47635599-GAT-CAA |
c.271_273delinsCAA |
p.D91Q |
Missense |
2/16 |
- |
1 |
2-47635599-GA-CT |
c.271_272delinsCT |
p.D91L |
Missense |
2/16 |
- |
1 |
2-47635599-GA-CC |
c.271_272delinsCC |
p.D91P |
Missense |
2/16 |
- |
1 |
2-47635599-GAT-AAG |
c.271_273delinsAAG |
p.D91K |
Missense |
2/16 |
- |
1 |
2-47635600-A-T |
c.272A>T |
p.D91V |
Missense |
2/16 |
- |
4 |
2-47635600-A-C |
c.272A>C |
p.D91A |
Missense |
2/16 |
- |
3 |
2-47635600-A-G |
c.272A>G |
p.D91G |
Missense |
2/16 |
- |
3 |
2-47635600-A-AT |
c.273dup |
p.L92Sfs*8 |
Frameshift |
2/16 |
- |
1 |
2-47635601-T-G |
c.273T>G |
p.D91E |
Missense |
2/16 |
- |
2 |
2-47635601-T-A |
c.273T>A |
p.D91E |
Missense |
2/16 |
- |
2 |
2-47635602-C-G |
c.274C>G |
p.L92V |
Missense |
2/16 |
- |
14 |
2-47635602-C-T |
c.274C>T |
p.L92F |
Missense |
2/16 |
- |
4 |
2-47635602-CT-TG |
c.274_275delinsTG |
p.L92C |
Missense |
2/16 |
- |
1 |
2-47635602-CTT-GAG |
c.274_276delinsGAG |
p.L92E |
Missense |
2/16 |
- |
1 |
2-47635602-CT-GG |
c.274_275delinsGG |
p.L92G |
Missense |
2/16 |
- |
1 |
2-47635602-CT-GC |
c.274_275delinsGC |
p.L92A |
Missense |
2/16 |
- |
1 |
2-47635602-CT-TA |
c.274_275delinsTA |
p.L92Y |
Missense |
2/16 |
- |
1 |
2-47635602-CTT-TGG |
c.274_276delinsTGG |
p.L92W |
Missense |
2/16 |
- |
1 |
2-47635602-CT-AA |
c.274_275delinsAA |
p.L92N |
Missense |
2/16 |
- |
1 |
2-47635602-CTT-ATG |
c.274_276delinsATG |
p.L92M |
Missense |
2/16 |
- |
1 |
2-47635602-CTT-AAG |
c.274_276inv |
p.L92K |
Missense |
2/16 |
- |
1 |
2-47635602-CT-AC |
c.274_275delinsAC |
p.L92T |
Missense |
2/16 |
- |
1 |
2-47635602-CT-GA |
c.274_275delinsGA |
p.L92D |
Missense |
2/16 |
- |
1 |
2-47635602-CT-AG |
c.274_275inv |
p.L92S |
Missense |
2/16 |
- |
1 |
2-47635602-C-A |
c.274C>A |
p.L92I |
Missense |
2/16 |
- |
5 |
2-47635603-T-C |
c.275T>C |
p.L92P |
Missense |
2/16 |
- |
3 |
2-47635603-T-G |
c.275T>G |
p.L92R |
Missense |
2/16 |
- |
2 |
2-47635603-T-A |
c.275T>A |
p.L92H |
Missense |
2/16 |
- |
3 |
2-47635603-TT-AA |
c.275_276inv |
p.L92Q |
Missense |
2/16 |
- |
1 |
2-47635605-C-T |
c.277C>T |
p.L93F |
Missense |
2/16 |
- |
13 |
2-47635605-CT-TA |
c.277_278delinsTA |
p.L93Y |
Missense |
2/16 |
- |
1 |
2-47635605-CT-AC |
c.277_278delinsAC |
p.L93T |
Missense |
2/16 |
- |
1 |
2-47635605-C-G |
c.277C>G |
p.L93V |
Missense |
2/16 |
- |
2 |
2-47635605-CT-GG |
c.277_278delinsGG |
p.L93G |
Missense |
2/16 |
- |
1 |
2-47635605-CT-AG |
c.277_278inv |
p.L93S |
Missense |
2/16 |
- |
1 |
2-47635605-CT-AA |
c.277_278delinsAA |
p.L93N |
Missense |
2/16 |
- |
1 |
2-47635605-CTT-TGG |
c.277_279delinsTGG |
p.L93W |
Missense |
2/16 |
- |
1 |
2-47635605-CTT-AAG |
c.277_279inv |
p.L93K |
Missense |
2/16 |
- |
1 |
2-47635605-CTT-ATG |
c.277_279delinsATG |
p.L93M |
Missense |
2/16 |
- |
1 |
2-47635605-CT-TG |
c.277_278delinsTG |
p.L93C |
Missense |
2/16 |
- |
1 |
2-47635605-C-A |
c.277C>A |
p.L93I |
Missense |
2/16 |
- |
2 |
2-47635605-CTT-GAG |
c.277_279delinsGAG |
p.L93E |
Missense |
2/16 |
- |
1 |
2-47635605-CT-GA |
c.277_278delinsGA |
p.L93D |
Missense |
2/16 |
- |
1 |
2-47635605-CT-GC |
c.277_278delinsGC |
p.L93A |
Missense |
2/16 |
- |
1 |
2-47635606-T-C |
c.278T>C |
p.L93P |
Missense |
2/16 |
- |
2 |
2-47635606-CTT-C |
c.278_279del |
p.L93Pfs*6 |
Frameshift |
2/16 |
- |
4 |
2-47635606-T-A |
c.278T>A |
p.L93H |
Missense |
2/16 |
- |
4 |
2-47635606-TT-AA |
c.278_279inv |
p.L93Q |
Missense |
2/16 |
- |
1 |
2-47635606-T-G |
c.278T>G |
p.L93R |
Missense |
2/16 |
- |
2 |
2-47635600-ATCT-A |
c.279_281del |
p.L94del |
InFrameDeletion |
2/16 |
- |
19 |
2-47635605-CT-C |
c.279del |
p.L94Wfs*80 |
Frameshift |
2/16 |
- |
1 |
2-47635608-TCTG-T |
c.280_282del |
p.L94del |
InFrameDeletion |
2/16 |
- |
3 |
2-47635608-C-G |
c.280C>G |
p.L94V |
Missense |
2/16 |
- |
6 |
2-47635608-CT-TC |
c.280_281delinsTC |
p.L94S |
Missense |
2/16 |
- |
1 |
2-47635608-CTG-AAC |
c.280_282delinsAAC |
p.L94N |
Missense |
2/16 |
- |
1 |
2-47635608-C-A |
c.280C>A |
p.L94M |
Missense |
2/16 |
- |
2 |
2-47635608-CTG-TAT |
c.280_282delinsTAT |
p.L94Y |
Missense |
2/16 |
- |
1 |
2-47635608-CTG-ATC |
c.280_282delinsATC |
p.L94I |
Missense |
2/16 |
- |
1 |
2-47635608-CT-AA |
c.280_281delinsAA |
p.L94K |
Missense |
2/16 |
- |
1 |
2-47635608-CT-GC |
c.280_281delinsGC |
p.L94A |
Missense |
2/16 |
- |
2 |
2-47635608-CT-GG |
c.280_281delinsGG |
p.L94G |
Missense |
2/16 |
- |
1 |
2-47635608-CT-GA |
c.280_281delinsGA |
p.L94E |
Missense |
2/16 |
- |
1 |
2-47635608-CTG-TGT |
c.280_282delinsTGT |
p.L94C |
Missense |
2/16 |
- |
1 |
2-47635608-CT-TG |
c.280_281delinsTG |
p.L94W |
Missense |
2/16 |
- |
1 |
2-47635608-CTG-TTT |
c.280_282delinsTTT |
p.L94F |
Missense |
2/16 |
- |
1 |
2-47635608-CTG-GAC |
c.280_282delinsGAC |
p.L94D |
Missense |
2/16 |
- |
1 |
2-47635608-CT-AC |
c.280_281delinsAC |
p.L94T |
Missense |
2/16 |
- |
1 |
2-47635609-T-G |
c.281T>G |
p.L94R |
Missense |
2/16 |
- |
2 |
2-47635609-T-A |
c.281T>A |
p.L94Q |
Missense |
2/16 |
- |
2 |
2-47635609-T-C |
c.281T>C |
p.L94P |
Missense |
2/16 |
- |
2 |
2-47635609-TG-AT |
c.281_282delinsAT |
p.L94H |
Missense |
2/16 |
- |
1 |
2-47635610-G-A |
c.282G>A |
p.L94= |
Synonymous |
2/16 |
- |
1 |
2-47635610-G-T |
c.282G>T |
p.L94= |
Synonymous |
2/16 |
- |
1 |
2-47635611-G-A |
c.283G>A |
p.V95I |
Missense |
2/16 |
- |
5 |
2-47635611-G-T |
c.283G>T |
p.V95F |
Missense |
2/16 |
- |
3 |
2-47635611-GT-TG |
c.283_284delinsTG |
p.V95C |
Missense |
2/16 |
- |
1 |
2-47635611-GT-TA |
c.283_284delinsTA |
p.V95Y |
Missense |
2/16 |
- |
1 |
2-47635611-GTT-TGG |
c.283_285delinsTGG |
p.V95W |
Missense |
2/16 |
- |
1 |
2-47635611-GT-AC |
c.283_284inv |
p.V95T |
Missense |
2/16 |
- |
1 |
2-47635611-GT-CA |
c.283_284delinsCA |
p.V95H |
Missense |
2/16 |
- |
1 |
2-47635611-GT-AG |
c.283_284delinsAG |
p.V95S |
Missense |
2/16 |
- |
1 |
2-47635611-GT-CG |
c.283_284delinsCG |
p.V95R |
Missense |
2/16 |
- |
1 |
2-47635611-GTT-CAA |
c.283_285delinsCAA |
p.V95Q |
Missense |
2/16 |
- |
1 |
2-47635611-GT-CC |
c.283_284delinsCC |
p.V95P |
Missense |
2/16 |
- |
1 |
2-47635611-GT-AA |
c.283_284delinsAA |
p.V95N |
Missense |
2/16 |
- |
1 |
2-47635611-GTT-ATG |
c.283_285delinsATG |
p.V95M |
Missense |
2/16 |
- |
1 |
2-47635611-G-C |
c.283G>C |
p.V95L |
Missense |
2/16 |
- |
2 |
2-47635611-GTT-AAG |
c.283_285delinsAAG |
p.V95K |
Missense |
2/16 |
- |
1 |
2-47635612-T-A |
c.284T>A |
p.V95D |
Missense |
2/16 |
- |
3 |
2-47635612-T-C |
c.284T>C |
p.V95A |
Missense |
2/16 |
- |
2 |
2-47635612-TT-AG |
c.284_285delinsAG |
p.V95E |
Missense |
2/16 |
- |
1 |
2-47635612-T-G |
c.284T>G |
p.V95G |
Missense |
2/16 |
- |
2 |
2-47635614-C-A |
c.286C>A |
p.R96S |
Missense |
2/16 |
- |
4 |
2-47635614-CGT-TGA |
c.286_288delinsTGA |
p.R96* |
Nonsense |
2/16 |
- |
1 |
2-47635614-C-T |
c.286C>T |
p.R96C |
Missense |
2/16 |
- |
8 |
2-47635614-CG-AA |
c.286_287delinsAA |
p.R96N |
Missense |
2/16 |
- |
1 |
2-47635614-CGT-ATG |
c.286_288delinsATG |
p.R96M |
Missense |
2/16 |
- |
1 |
2-47635614-CGT-AAG |
c.286_288delinsAAG |
p.R96K |
Missense |
2/16 |
- |
1 |
2-47635614-CG-AT |
c.286_287delinsAT |
p.R96I |
Missense |
2/16 |
- |
1 |
2-47635614-C-G |
c.286C>G |
p.R96G |
Missense |
2/16 |
- |
2 |
2-47635614-CG-TT |
c.286_287delinsTT |
p.R96F |
Missense |
2/16 |
- |
1 |
2-47635614-CGT-GAG |
c.286_288delinsGAG |
p.R96E |
Missense |
2/16 |
- |
1 |
2-47635614-CG-GA |
c.286_287delinsGA |
p.R96D |
Missense |
2/16 |
- |
1 |
2-47635614-CG-GC |
c.286_287delinsGC |
p.R96A |
Missense |
2/16 |
- |
1 |
2-47635614-CG-AC |
c.286_287delinsAC |
p.R96T |
Missense |
2/16 |
- |
1 |
2-47635614-CG-GT |
c.286_287delinsGT |
p.R96V |
Missense |
2/16 |
- |
1 |
2-47635614-CG-TA |
c.286_287delinsTA |
p.R96Y |
Missense |
2/16 |
- |
1 |
2-47635614-CGT-TGG |
c.286_288delinsTGG |
p.R96W |
Missense |
2/16 |
- |
1 |
2-47635615-G-A |
c.287G>A |
p.R96H |
Missense |
2/16 |
- |
18 |
2-47635615-G-T |
c.287G>T |
p.R96L |
Missense |
2/16 |
- |
2 |
2-47635615-GT-AA |
c.287_288delinsAA |
p.R96Q |
Missense |
2/16 |
- |
2 |
2-47635615-G-C |
c.287G>C |
p.R96P |
Missense |
2/16 |
- |
2 |
2-47635617-C-T |
c.289C>T |
p.Q97* |
Nonsense |
2/16 |
- |
14 |
2-47635617-C-A |
c.289C>A |
p.Q97K |
Missense |
2/16 |
- |
3 |
2-47635617-CA-GC |
c.289_290delinsGC |
p.Q97A |
Missense |
2/16 |
- |
2 |
2-47635617-CAG-TAT |
c.289_291delinsTAT |
p.Q97Y |
Missense |
2/16 |
- |
1 |
2-47635617-CA-TG |
c.289_290inv |
p.Q97W |
Missense |
2/16 |
- |
1 |
2-47635617-CA-GT |
c.289_290delinsGT |
p.Q97V |
Missense |
2/16 |
- |
1 |
2-47635617-CA-AC |
c.289_290delinsAC |
p.Q97T |
Missense |
2/16 |
- |
1 |
2-47635617-CA-TC |
c.289_290delinsTC |
p.Q97S |
Missense |
2/16 |
- |
1 |
2-47635617-CAG-TGT |
c.289_291delinsTGT |
p.Q97C |
Missense |
2/16 |
- |
1 |
2-47635617-CA-GG |
c.289_290delinsGG |
p.Q97G |
Missense |
2/16 |
- |
1 |
2-47635617-CAG-ATC |
c.289_291delinsATC |
p.Q97I |
Missense |
2/16 |
- |
1 |
2-47635617-CAG-AAC |
c.289_291delinsAAC |
p.Q97N |
Missense |
2/16 |
- |
1 |
2-47635617-CA-AT |
c.289_290delinsAT |
p.Q97M |
Missense |
2/16 |
- |
1 |
2-47635617-CAG-TTT |
c.289_291delinsTTT |
p.Q97F |
Missense |
2/16 |
- |
1 |
2-47635617-CAG-GAC |
c.289_291delinsGAC |
p.Q97D |
Missense |
2/16 |
- |
1 |
2-47635617-C-G |
c.289C>G |
p.Q97E |
Missense |
2/16 |
- |
4 |
2-47635617-TC-T |
c.289del |
p.Q97Sfs*77 |
Frameshift |
2/16 |
- |
2 |
2-47635618-A-G |
c.290A>G |
p.Q97R |
Missense |
2/16 |
- |
2 |
2-47635618-A-C |
c.290A>C |
p.Q97P |
Missense |
2/16 |
- |
3 |
2-47635618-A-T |
c.290A>T |
p.Q97L |
Missense |
2/16 |
- |
2 |
2-47635619-G-T |
c.291G>T |
p.Q97H |
Missense |
2/16 |
- |
2 |
2-47635619-G-C |
c.291G>C |
p.Q97H |
Missense |
2/16 |
- |
1 |
2-47635620-TA-GT |
c.292_293delinsGT |
p.Y98V |
Missense |
2/16 |
- |
1 |
2-47635620-TAT-GAG |
c.292_294delinsGAG |
p.Y98E |
Missense |
2/16 |
- |
1 |
2-47635620-TA-AC |
c.292_293delinsAC |
p.Y98T |
Missense |
2/16 |
- |
1 |
2-47635620-TA-CG |
c.292_293delinsCG |
p.Y98R |
Missense |
2/16 |
- |
2 |
2-47635620-TAT-CAA |
c.292_294delinsCAA |
p.Y98Q |
Missense |
2/16 |
- |
1 |
2-47635620-TA-CT |
c.292_293delinsCT |
p.Y98L |
Missense |
2/16 |
- |
1 |
2-47635620-TA-CC |
c.292_293delinsCC |
p.Y98P |
Missense |
2/16 |
- |
1 |
2-47635620-T-A |
c.292T>A |
p.Y98N |
Missense |
2/16 |
- |
3 |
2-47635620-T-C |
c.292T>C |
p.Y98H |
Missense |
2/16 |
- |
2 |
2-47635620-TAT-ATG |
c.292_294delinsATG |
p.Y98M |
Missense |
2/16 |
- |
1 |
2-47635620-TAT-AAG |
c.292_294delinsAAG |
p.Y98K |
Missense |
2/16 |
- |
1 |
2-47635620-TA-AT |
c.292_293delinsAT |
p.Y98I |
Missense |
2/16 |
- |
1 |
2-47635620-TA-GG |
c.292_293delinsGG |
p.Y98G |
Missense |
2/16 |
- |
1 |
2-47635620-T-G |
c.292T>G |
p.Y98D |
Missense |
2/16 |
- |
2 |
2-47635620-TA-GC |
c.292_293delinsGC |
p.Y98A |
Missense |
2/16 |
- |
2 |
2-47635621-A-G |
c.293A>G |
p.Y98C |
Missense |
2/16 |
- |
6 |
2-47635621-AT-GG |
c.293_294delinsGG |
p.Y98W |
Missense |
2/16 |
- |
1 |
2-47635621-A-C |
c.293A>C |
p.Y98S |
Missense |
2/16 |
- |
2 |
2-47635621-A-T |
c.293A>T |
p.Y98F |
Missense |
2/16 |
- |
2 |
2-47635622-T-A |
c.294T>A |
p.Y98* |
Nonsense |
2/16 |
- |
2 |
2-47635619-GTA-G |
c.294_295del |
p.Y98* |
Frameshift |
2/16 |
- |
1 |
2-47635623-A-C |
c.295A>C |
p.R99= |
Synonymous |
2/16 |
- |
3 |
2-47635623-A-T |
c.295A>T |
p.R99* |
Nonsense |
2/16 |
- |
2 |
2-47635623-AGA-GAC |
c.295_297delinsGAC |
p.R99D |
Missense |
2/16 |
- |
1 |
2-47635623-AGA-TAT |
c.295_297delinsTAT |
p.R99Y |
Missense |
2/16 |
- |
1 |
2-47635623-AG-GT |
c.295_296delinsGT |
p.R99V |
Missense |
2/16 |
- |
1 |
2-47635623-AGA-CAT |
c.295_297delinsCAT |
p.R99H |
Missense |
2/16 |
- |
1 |
2-47635623-AG-CT |
c.295_296inv |
p.R99L |
Missense |
2/16 |
- |
1 |
2-47635623-AGA-TGT |
c.295_297delinsTGT |
p.R99C |
Missense |
2/16 |
- |
2 |
2-47635623-AGA-TTT |
c.295_297delinsTTT |
p.R99F |
Missense |
2/16 |
- |
1 |
2-47635623-AG-GA |
c.295_296delinsGA |
p.R99E |
Missense |
2/16 |
- |
1 |
2-47635623-AG-GC |
c.295_296delinsGC |
p.R99A |
Missense |
2/16 |
- |
1 |
2-47635623-A-G |
c.295A>G |
p.R99G |
Missense |
2/16 |
- |
2 |
2-47635623-AGA-TGG |
c.295_297delinsTGG |
p.R99W |
Missense |
2/16 |
- |
1 |
2-47635623-AG-CA |
c.295_296delinsCA |
p.R99Q |
Missense |
2/16 |
- |
3 |
2-47635623-AG-CC |
c.295_296delinsCC |
p.R99P |
Missense |
2/16 |
- |
1 |
2-47635624-G-A |
c.296G>A |
p.R99K |
Missense |
2/16 |
- |
6 |
2-47635624-AG-A |
c.296del |
p.R99Kfs*75 |
Frameshift |
2/16 |
- |
1 |
2-47635624-G-T |
c.296G>T |
p.R99I |
Missense |
2/16 |
- |
2 |
2-47635624-GA-TG |
c.296_297delinsTG |
p.R99M |
Missense |
2/16 |
- |
1 |
2-47635624-G-C |
c.296G>C |
p.R99T |
Missense |
2/16 |
- |
2 |
2-47635624-GA-AC |
c.296_297delinsAC |
p.R99N |
Missense |
2/16 |
- |
1 |
2-47635622-TAG-T |
c.297_298del |
p.R99Sfs*2 |
Frameshift |
2/16 |
- |
1 |
2-47635625-A-C |
c.297A>C |
p.R99S |
Missense |
2/16 |
- |
2 |
2-47635625-A-T |
c.297A>T |
p.R99S |
Missense |
2/16 |
- |
3 |
2-47635626-G-A |
c.298G>A |
p.V100I |
Missense |
2/16 |
- |
6 |
2-47635626-G-C |
c.298G>C |
p.V100L |
Missense |
2/16 |
- |
2 |
2-47635626-GT-AC |
c.298_299inv |
p.V100T |
Missense |
2/16 |
- |
1 |
2-47635626-GT-TG |
c.298_299delinsTG |
p.V100C |
Missense |
2/16 |
- |
1 |
2-47635626-GTT-AAG |
c.298_300delinsAAG |
p.V100K |
Missense |
2/16 |
- |
1 |
2-47635626-GT-CA |
c.298_299delinsCA |
p.V100H |
Missense |
2/16 |
- |
1 |
2-47635626-GT-AA |
c.298_299delinsAA |
p.V100N |
Missense |
2/16 |
- |
1 |
2-47635626-GTT-CAA |
c.298_300delinsCAA |
p.V100Q |
Missense |
2/16 |
- |
1 |
2-47635626-G-T |
c.298G>T |
p.V100F |
Missense |
2/16 |
- |
2 |
2-47635626-GT-TA |
c.298_299delinsTA |
p.V100Y |
Missense |
2/16 |
- |
1 |
2-47635626-GT-CG |
c.298_299delinsCG |
p.V100R |
Missense |
2/16 |
- |
1 |
2-47635626-GTT-TGG |
c.298_300delinsTGG |
p.V100W |
Missense |
2/16 |
- |
1 |
2-47635626-GT-AG |
c.298_299delinsAG |
p.V100S |
Missense |
2/16 |
- |
1 |
2-47635626-GTT-ATG |
c.298_300delinsATG |
p.V100M |
Missense |
2/16 |
- |
1 |
2-47635626-GT-CC |
c.298_299delinsCC |
p.V100P |
Missense |
2/16 |
- |
1 |
2-47635626-GTT-TAA |
c.298_300delinsTAA |
p.V100* |
Nonsense |
2/16 |
- |
2 |
2-47635627-TT-AG |
c.299_300delinsAG |
p.V100E |
Missense |
2/16 |
- |
2 |
2-47635627-T-C |
c.299T>C |
p.V100A |
Missense |
2/16 |
- |
3 |
2-47635627-T-G |
c.299T>G |
p.V100G |
Missense |
2/16 |
- |
4 |
2-47635627-T-A |
c.299T>A |
p.V100D |
Missense |
2/16 |
- |
3 |
2-47635629-G-A |
c.301G>A |
p.E101K |
Missense |
2/16 |
- |
3 |
2-47635624-GAGTTGA-G |
c.301_306del |
p.E101_V102del |
InFrameDeletion |
2/16 |
- |
6 |
2-47635629-G-C |
c.301G>C |
p.E101Q |
Missense |
2/16 |
- |
4 |
2-47635629-G-T |
c.301G>T |
p.E101* |
Nonsense |
2/16 |
- |
6 |
2-47635629-GAA-ATG |
c.301_303delinsATG |
p.E101M |
Missense |
2/16 |
- |
1 |
2-47635629-GAA-TAT |
c.301_303delinsTAT |
p.E101Y |
Missense |
2/16 |
- |
1 |
2-47635629-GAA-TGG |
c.301_303delinsTGG |
p.E101W |
Missense |
2/16 |
- |
1 |
2-47635629-GA-CT |
c.301_302delinsCT |
p.E101L |
Missense |
2/16 |
- |
1 |
2-47635629-GA-AC |
c.301_302delinsAC |
p.E101T |
Missense |
2/16 |
- |
1 |
2-47635629-GA-TC |
c.301_302inv |
p.E101S |
Missense |
2/16 |
- |
1 |
2-47635629-GAA-AAC |
c.301_303delinsAAC |
p.E101N |
Missense |
2/16 |
- |
1 |
2-47635629-GAA-TTT |
c.301_303delinsTTT |
p.E101F |
Missense |
2/16 |
- |
1 |
2-47635629-GA-AT |
c.301_302delinsAT |
p.E101I |
Missense |
2/16 |
- |
1 |
2-47635629-GA-AG |
c.301_302delinsAG |
p.E101R |
Missense |
2/16 |
- |
1 |
2-47635629-GAA-CAT |
c.301_303delinsCAT |
p.E101H |
Missense |
2/16 |
- |
1 |
2-47635629-GAA-TGT |
c.301_303delinsTGT |
p.E101C |
Missense |
2/16 |
- |
1 |
2-47635629-GA-CC |
c.301_302delinsCC |
p.E101P |
Missense |
2/16 |
- |
1 |
2-47635630-A-G |
c.302A>G |
p.E101G |
Missense |
2/16 |
- |
2 |
2-47635630-A-T |
c.302A>T |
p.E101V |
Missense |
2/16 |
- |
2 |
2-47635630-A-C |
c.302A>C |
p.E101A |
Missense |
2/16 |
- |
3 |
2-47635631-A-C |
c.303A>C |
p.E101D |
Missense |
2/16 |
- |
2 |
2-47635631-A-T |
c.303A>T |
p.E101D |
Missense |
2/16 |
- |
2 |
2-47635632-G-A |
c.304G>A |
p.V102I |
Missense |
2/16 |
- |
15 |
2-47635632-GT-TG |
c.304_305delinsTG |
p.V102C |
Missense |
2/16 |
- |
1 |
2-47635632-G-T |
c.304G>T |
p.V102F |
Missense |
2/16 |
- |
3 |
2-47635632-GT-AA |
c.304_305delinsAA |
p.V102N |
Missense |
2/16 |
- |
1 |
2-47635632-GT-CC |
c.304_305delinsCC |
p.V102P |
Missense |
2/16 |
- |
1 |
2-47635632-GTT-ATG |
c.304_306delinsATG |
p.V102M |
Missense |
2/16 |
- |
1 |
2-47635632-GT-AG |
c.304_305delinsAG |
p.V102S |
Missense |
2/16 |
- |
1 |
2-47635632-GTT-AAG |
c.304_306delinsAAG |
p.V102K |
Missense |
2/16 |
- |
1 |
2-47635632-G-C |
c.304G>C |
p.V102L |
Missense |
2/16 |
- |
2 |
2-47635632-GT-CG |
c.304_305delinsCG |
p.V102R |
Missense |
2/16 |
- |
1 |
2-47635632-GTT-TGG |
c.304_306delinsTGG |
p.V102W |
Missense |
2/16 |
- |
1 |
2-47635632-GT-TA |
c.304_305delinsTA |
p.V102Y |
Missense |
2/16 |
- |
1 |
2-47635632-GTT-CAA |
c.304_306delinsCAA |
p.V102Q |
Missense |
2/16 |
- |
1 |
2-47635632-GT-CA |
c.304_305delinsCA |
p.V102H |
Missense |
2/16 |
- |
1 |
2-47635632-GT-AC |
c.304_305inv |
p.V102T |
Missense |
2/16 |
- |
1 |
2-47635633-T-A |
c.305T>A |
p.V102D |
Missense |
2/16 |
- |
2 |
2-47635633-T-C |
c.305T>C |
p.V102A |
Missense |
2/16 |
- |
2 |
2-47635633-TT-AG |
c.305_306delinsAG |
p.V102E |
Missense |
2/16 |
- |
1 |
2-47635633-T-G |
c.305T>G |
p.V102G |
Missense |
2/16 |
- |
2 |
2-47635634-T-G |
c.306T>G |
p.V102= |
Synonymous |
2/16 |
- |
1 |
2-47635635-T-C |
c.307T>C |
p.Y103H |
Missense |
2/16 |
- |
5 |
2-47635635-TA-GG |
c.307_308delinsGG |
p.Y103G |
Missense |
2/16 |
- |
1 |
2-47635635-TA-AT |
c.307_308delinsAT |
p.Y103I |
Missense |
2/16 |
- |
1 |
2-47635635-TAT-CAA |
c.307_309delinsCAA |
p.Y103Q |
Missense |
2/16 |
- |
1 |
2-47635635-TA-GT |
c.307_308delinsGT |
p.Y103V |
Missense |
2/16 |
- |
1 |
2-47635635-TA-CG |
c.307_308delinsCG |
p.Y103R |
Missense |
2/16 |
- |
1 |
2-47635635-T-G |
c.307T>G |
p.Y103D |
Missense |
2/16 |
- |
1 |
2-47635635-TAT-ATG |
c.307_309delinsATG |
p.Y103M |
Missense |
2/16 |
- |
1 |
2-47635635-TA-GC |
c.307_308delinsGC |
p.Y103A |
Missense |
2/16 |
- |
2 |
2-47635635-T-A |
c.307T>A |
p.Y103N |
Missense |
2/16 |
- |
2 |
2-47635635-TA-AC |
c.307_308delinsAC |
p.Y103T |
Missense |
2/16 |
- |
1 |
2-47635635-TAT-AAG |
c.307_309delinsAAG |
p.Y103K |
Missense |
2/16 |
- |
1 |
2-47635635-TA-CC |
c.307_308delinsCC |
p.Y103P |
Missense |
2/16 |
- |
1 |
2-47635635-TAT-GAG |
c.307_309delinsGAG |
p.Y103E |
Missense |
2/16 |
- |
1 |
2-47635635-TA-CT |
c.307_308delinsCT |
p.Y103L |
Missense |
2/16 |
- |
1 |
2-47635636-A-G |
c.308A>G |
p.Y103C |
Missense |
2/16 |
- |
10 |
2-47635636-A-T |
c.308A>T |
p.Y103F |
Missense |
2/16 |
- |
4 |
2-47635636-AT-GG |
c.308_309delinsGG |
p.Y103W |
Missense |
2/16 |
- |
1 |
2-47635636-A-C |
c.308A>C |
p.Y103S |
Missense |
2/16 |
- |
2 |
2-47635634-T-TTAA |
c.308_309insATA |
p.V102_Y103ins* |
InFrameInsertion |
2/16 |
- |
1 |
2-47635635-TATAAGAATAG-T |
c.309_318del |
p.Y103* |
Frameshift |
2/16 |
- |
1 |
2-47635637-AT-A |
c.309del |
p.Y103* |
Frameshift |
2/16 |
- |
2 |
2-47635638-AA-CT |
c.310_311delinsCT |
p.K104L |
Missense |
2/16 |
- |
1 |
2-47635638-A-C |
c.310A>C |
p.K104Q |
Missense |
2/16 |
- |
2 |
2-47635638-AA-CC |
c.310_311delinsCC |
p.K104P |
Missense |
2/16 |
- |
1 |
2-47635638-AA-GT |
c.310_311delinsGT |
p.K104V |
Missense |
2/16 |
- |
1 |
2-47635638-AA-TG |
c.310_311delinsTG |
p.K104W |
Missense |
2/16 |
- |
1 |
2-47635638-AAG-TAT |
c.310_312delinsTAT |
p.K104Y |
Missense |
2/16 |
- |
1 |
2-47635638-AA-GG |
c.310_311delinsGG |
p.K104G |
Missense |
2/16 |
- |
1 |
2-47635638-A-G |
c.310A>G |
p.K104E |
Missense |
2/16 |
- |
2 |
2-47635638-AAG-GAC |
c.310_312delinsGAC |
p.K104D |
Missense |
2/16 |
- |
1 |
2-47635638-AA-GC |
c.310_311delinsGC |
p.K104A |
Missense |
2/16 |
- |
1 |
2-47635638-AAG-TTT |
c.310_312delinsTTT |
p.K104F |
Missense |
2/16 |
- |
1 |
2-47635638-AAG-CAT |
c.310_312delinsCAT |
p.K104H |
Missense |
2/16 |
- |
1 |
2-47635638-AAG-TGT |
c.310_312delinsTGT |
p.K104C |
Missense |
2/16 |
- |
1 |
2-47635638-A-T |
c.310A>T |
p.K104* |
Nonsense |
2/16 |
- |
2 |
2-47635637-TA-T |
c.311del |
p.K104Rfs*70 |
Frameshift |
2/16 |
- |
1 |
2-47635639-A-C |
c.311A>C |
p.K104T |
Missense |
2/16 |
- |
4 |
2-47635639-AG-GC |
c.311_312delinsGC |
p.K104S |
Missense |
2/16 |
- |
1 |
2-47635639-A-G |
c.311A>G |
p.K104R |
Missense |
2/16 |
- |
2 |
2-47635639-A-T |
c.311A>T |
p.K104M |
Missense |
2/16 |
- |
1 |
2-47635639-AG-TC |
c.311_312delinsTC |
p.K104I |
Missense |
2/16 |
- |
1 |
2-47635637-T-TA |
c.311dup |
p.N105Efs*2 |
Frameshift |
2/16 |
- |
1 |
2-47635640-G-T |
c.312G>T |
p.K104N |
Missense |
2/16 |
- |
3 |
2-47635640-G-C |
c.312G>C |
p.K104N |
Missense |
2/16 |
- |
3 |
2-47635641-A-T |
c.313A>T |
p.N105Y |
Missense |
2/16 |
- |
2 |
2-47635641-AAT-TGG |
c.313_315delinsTGG |
p.N105W |
Missense |
2/16 |
- |
1 |
2-47635641-AA-GT |
c.313_314delinsGT |
p.N105V |
Missense |
2/16 |
- |
1 |
2-47635641-AAT-CAA |
c.313_315delinsCAA |
p.N105Q |
Missense |
2/16 |
- |
1 |
2-47635641-AA-CC |
c.313_314delinsCC |
p.N105P |
Missense |
2/16 |
- |
1 |
2-47635641-A-G |
c.313A>G |
p.N105D |
Missense |
2/16 |
- |
2 |
2-47635641-AAT-GAG |
c.313_315delinsGAG |
p.N105E |
Missense |
2/16 |
- |
1 |
2-47635641-AA-CT |
c.313_314delinsCT |
p.N105L |
Missense |
2/16 |
- |
1 |
2-47635641-AA-GC |
c.313_314delinsGC |
p.N105A |
Missense |
2/16 |
- |
1 |
2-47635641-AA-TT |
c.313_314inv |
p.N105F |
Missense |
2/16 |
- |
1 |
2-47635641-A-C |
c.313A>C |
p.N105H |
Missense |
2/16 |
- |
3 |
2-47635641-AA-TG |
c.313_314delinsTG |
p.N105C |
Missense |
2/16 |
- |
1 |
2-47635641-AA-GG |
c.313_314delinsGG |
p.N105G |
Missense |
2/16 |
- |
1 |
2-47635642-A-G |
c.314A>G |
p.N105S |
Missense |
2/16 |
- |
4 |
2-47635642-A-C |
c.314A>C |
p.N105T |
Missense |
2/16 |
- |
2 |
2-47635642-AT-GG |
c.314_315delinsGG |
p.N105R |
Missense |
2/16 |
- |
1 |
2-47635642-AT-TG |
c.314_315delinsTG |
p.N105M |
Missense |
2/16 |
- |
1 |
2-47635642-A-T |
c.314A>T |
p.N105I |
Missense |
2/16 |
- |
2 |
2-47635643-T-G |
c.315T>G |
p.N105K |
Missense |
2/16 |
- |
2 |
2-47635643-T-A |
c.315T>A |
p.N105K |
Missense |
2/16 |
- |
2 |
2-47635643-T-C |
c.315T>C |
p.N105= |
Synonymous |
2/16 |
- |
1 |
2-47635644-A-G |
c.316A>G |
p.R106G |
Missense |
2/16 |
- |
4 |
2-47635644-AG-CT |
c.316_317inv |
p.R106L |
Missense |
2/16 |
- |
1 |
2-47635644-AGA-CAT |
c.316_318delinsCAT |
p.R106H |
Missense |
2/16 |
- |
1 |
2-47635644-AGA-TTT |
c.316_318delinsTTT |
p.R106F |
Missense |
2/16 |
- |
1 |
2-47635644-AG-GA |
c.316_317delinsGA |
p.R106E |
Missense |
2/16 |
- |
1 |
2-47635644-AGA-GAC |
c.316_318delinsGAC |
p.R106D |
Missense |
2/16 |
- |
1 |
2-47635644-AGA-TGT |
c.316_318delinsTGT |
p.R106C |
Missense |
2/16 |
- |
1 |
2-47635644-AG-GC |
c.316_317delinsGC |
p.R106A |
Missense |
2/16 |
- |
1 |
2-47635644-AG-CA |
c.316_317delinsCA |
p.R106Q |
Missense |
2/16 |
- |
1 |
2-47635644-AG-CC |
c.316_317delinsCC |
p.R106P |
Missense |
2/16 |
- |
1 |
2-47635644-AGA-TAT |
c.316_318delinsTAT |
p.R106Y |
Missense |
2/16 |
- |
1 |
2-47635644-AGA-TGG |
c.316_318delinsTGG |
p.R106W |
Missense |
2/16 |
- |
2 |
2-47635644-AG-GT |
c.316_317delinsGT |
p.R106V |
Missense |
2/16 |
- |
1 |
2-47635645-G-A |
c.317G>A |
p.R106K |
Missense |
2/16 |
- |
17 |
2-47635645-GA-TG |
c.317_318delinsTG |
p.R106M |
Missense |
2/16 |
- |
1 |
2-47635645-G-T |
c.317G>T |
p.R106I |
Missense |
2/16 |
- |
2 |
2-47635645-G-C |
c.317G>C |
p.R106T |
Missense |
2/16 |
- |
5 |
2-47635645-GA-AC |
c.317_318delinsAC |
p.R106N |
Missense |
2/16 |
- |
1 |
2-47635646-A-C |
c.318A>C |
p.R106S |
Missense |
2/16 |
- |
2 |
2-47635646-A-T |
c.318A>T |
p.R106S |
Missense |
2/16 |
- |
2 |
2-47635647-G-A |
c.319G>A |
p.A107T |
Missense |
2/16 |
- |
5 |
2-47635647-GCT-ATG |
c.319_321delinsATG |
p.A107M |
Missense |
2/16 |
- |
1 |
2-47635647-GC-CT |
c.319_320delinsCT |
p.A107L |
Missense |
2/16 |
- |
1 |
2-47635647-GCT-AAG |
c.319_321delinsAAG |
p.A107K |
Missense |
2/16 |
- |
1 |
2-47635647-GC-AT |
c.319_320delinsAT |
p.A107I |
Missense |
2/16 |
- |
1 |
2-47635647-GC-CA |
c.319_320delinsCA |
p.A107H |
Missense |
2/16 |
- |
1 |
2-47635647-GC-TT |
c.319_320delinsTT |
p.A107F |
Missense |
2/16 |
- |
1 |
2-47635647-GC-AA |
c.319_320delinsAA |
p.A107N |
Missense |
2/16 |
- |
1 |
2-47635647-GC-TG |
c.319_320delinsTG |
p.A107C |
Missense |
2/16 |
- |
1 |
2-47635647-GC-TA |
c.319_320delinsTA |
p.A107Y |
Missense |
2/16 |
- |
1 |
2-47635647-GCT-CAA |
c.319_321delinsCAA |
p.A107Q |
Missense |
2/16 |
- |
1 |
2-47635647-G-T |
c.319G>T |
p.A107S |
Missense |
2/16 |
- |
2 |
2-47635647-GCT-TGG |
c.319_321delinsTGG |
p.A107W |
Missense |
2/16 |
- |
1 |
2-47635647-GC-CG |
c.319_320delinsCG |
p.A107R |
Missense |
2/16 |
- |
1 |
2-47635647-G-C |
c.319G>C |
p.A107P |
Missense |
2/16 |
- |
7 |
2-47635648-C-T |
c.320C>T |
p.A107V |
Missense |
2/16 |
- |
5 |
2-47635648-C-G |
c.320C>G |
p.A107G |
Missense |
2/16 |
- |
3 |
2-47635648-CT-AG |
c.320_321inv |
p.A107E |
Missense |
2/16 |
- |
1 |
2-47635648-C-A |
c.320C>A |
p.A107D |
Missense |
2/16 |
- |
3 |
2-47635649-CT-C |
c.321del |
p.G108Efs*66 |
Frameshift |
2/16 |
- |
2 |
2-47635650-GGA-AGC |
c.322_324delinsAGC |
p.G108S |
Missense |
2/16 |
- |
2 |
2-47635650-G-A |
c.322G>A |
p.G108R |
Missense |
2/16 |
- |
1 |
2-47635650-G-C |
c.322G>C |
p.G108R |
Missense |
2/16 |
- |
1 |
2-47635651-GA-AC |
c.323_324delinsAC |
p.G108D |
Missense |
2/16 |
- |
2 |
2-47635651-G-C |
c.323G>C |
p.G108A |
Missense |
2/16 |
- |
2 |
2-47635651-G-A |
c.323G>A |
p.G108E |
Missense |
2/16 |
- |
3 |
2-47635651-G-T |
c.323G>T |
p.G108V |
Missense |
2/16 |
- |
3 |
2-47635652-A-T |
c.324A>T |
p.G108= |
Synonymous |
2/16 |
- |
1 |
2-47635652-A-G |
c.324A>G |
p.G108= |
Synonymous |
2/16 |
- |
1 |
2-47635652-A-C |
c.324A>C |
p.G108= |
Synonymous |
2/16 |
- |
1 |
2-47635653-A-C |
c.325A>C |
p.N109H |
Missense |
2/16 |
- |
2 |
2-47635653-A-G |
c.325A>G |
p.N109D |
Missense |
2/16 |
- |
1 |
2-47635653-A-T |
c.325A>T |
p.N109Y |
Missense |
2/16 |
- |
1 |
2-47635654-A-C |
c.326A>C |
p.N109T |
Missense |
2/16 |
- |
2 |
2-47635654-A-G |
c.326A>G |
p.N109S |
Missense |
2/16 |
- |
3 |
2-47635654-A-T |
c.326A>T |
p.N109I |
Missense |
2/16 |
- |
1 |
2-47635651-GA-G |
c.326del |
p.N109Ifs*65 |
Frameshift |
2/16 |
- |
1 |
2-47635655-T-G |
c.327T>G |
p.N109K |
Missense |
2/16 |
- |
2 |
2-47635655-T-A |
c.327T>A |
p.N109K |
Missense |
2/16 |
- |
1 |
2-47635656-A-C |
c.328A>C |
p.K110Q |
Missense |
2/16 |
- |
6 |
2-47635656-A-G |
c.328A>G |
p.K110E |
Missense |
2/16 |
- |
1 |
2-47635657-A-G |
c.329A>G |
p.K110R |
Missense |
2/16 |
- |
3 |
2-47635657-A-C |
c.329A>C |
p.K110T |
Missense |
2/16 |
- |
6 |
2-47635657-A-T |
c.329A>T |
p.K110M |
Missense |
2/16 |
- |
2 |
2-47635655-TA-T |
c.329del |
p.K110Rfs*64 |
Frameshift |
2/16 |
- |
1 |
2-47635658-G-C |
c.330G>C |
p.K110N |
Missense |
2/16 |
- |
2 |
2-47635658-G-T |
c.330G>T |
p.K110N |
Missense |
2/16 |
- |
1 |
2-47635659-G-A |
c.331G>A |
p.A111T |
Missense |
2/16 |
- |
2 |
2-47635659-G-C |
c.331G>C |
p.A111P |
Missense |
2/16 |
- |
2 |
2-47635659-G-T |
c.331G>T |
p.A111S |
Missense |
2/16 |
- |
1 |
2-47635660-C-T |
c.332C>T |
p.A111V |
Missense |
2/16 |
- |
5 |
2-47635660-C-A |
c.332C>A |
p.A111E |
Missense |
2/16 |
- |
2 |
2-47635660-C-G |
c.332C>G |
p.A111G |
Missense |
2/16 |
- |
1 |
2-47635662-T-A |
c.334T>A |
p.S112T |
Missense |
2/16 |
- |
1 |
2-47635662-T-C |
c.334T>C |
p.S112P |
Missense |
2/16 |
- |
1 |
2-47635662-T-G |
c.334T>G |
p.S112A |
Missense |
2/16 |
- |
1 |
2-47635662-TC-CT |
c.334_335delinsCT |
p.S112L |
Missense |
2/16 |
- |
1 |
2-47635663-C-T |
c.335C>T |
p.S112F |
Missense |
2/16 |
- |
7 |
2-47635663-C-G |
c.335C>G |
p.S112C |
Missense |
2/16 |
- |
4 |
2-47635663-C-A |
c.335C>A |
p.S112Y |
Missense |
2/16 |
- |
1 |
2-47635664-C-A |
c.336C>A |
p.S112= |
Synonymous |
2/16 |
- |
5 |
2-47635664-C-CTCTTG |
c.336_337insTCTTG |
p.K113Sfs*2 |
Frameshift |
2/16 |
- |
1 |
2-47635664-C-T |
c.336C>T |
p.S112= |
Synonymous |
2/16 |
- |
1 |
2-47635665-A-ATTAGCTGGGACCAC |
c.337_338insTTAGCTGGGACCAC |
p.K113Ifs*66 |
Frameshift |
2/16 |
- |
1 |
2-47635665-A-C |
c.337A>C |
p.K113Q |
Missense |
2/16 |
- |
1 |
2-47635666-A-C |
c.338A>C |
p.K113T |
Missense |
2/16 |
- |
1 |
2-47635666-A-G |
c.338A>G |
p.K113R |
Missense |
2/16 |
- |
1 |
2-47635666-A-T |
c.338A>T |
p.K113M |
Missense |
2/16 |
- |
1 |
2-47635667-G-A |
c.339G>A |
p.K113= |
Synonymous |
2/16 |
- |
14 |
2-47635667-AGG-A |
c.339_340del |
p.N115* |
Frameshift |
2/16 |
- |
1 |
2-47635667-G-C |
c.339G>C |
p.K113N |
Missense |
2/16 |
- |
3 |
2-47635667-G-T |
c.339G>T |
p.K113N |
Missense |
2/16 |
- |
1 |
2-47635666-AG-A |
c.340del |
p.E114Rfs*60 |
Frameshift |
2/16 |
- |
2 |
2-47635668-G-A |
c.340G>A |
p.E114K |
Missense |
2/16 |
- |
2 |
2-47635668-G-T |
c.340G>T |
p.E114* |
Nonsense |
2/16 |
- |
3 |
2-47635668-G-C |
c.340G>C |
p.E114Q |
Missense |
2/16 |
- |
1 |
2-47635669-A-C |
c.341A>C |
p.E114A |
Missense |
2/16 |
- |
1 |
2-47635669-A-G |
c.341A>G |
p.E114G |
Missense |
2/16 |
- |
1 |
2-47635669-A-T |
c.341A>T |
p.E114V |
Missense |
2/16 |
- |
1 |
2-47635670-G-C |
c.342G>C |
p.E114D |
Missense |
2/16 |
- |
1 |
2-47635670-G-T |
c.342G>T |
p.E114D |
Missense |
2/16 |
- |
1 |
2-47635671-AA-GC |
c.343_344delinsGC |
p.N115A |
Missense |
2/16 |
- |
1 |
2-47635671-AA-TG |
c.343_344delinsTG |
p.N115C |
Missense |
2/16 |
- |
1 |
2-47635671-AAT-CAA |
c.343_345delinsCAA |
p.N115Q |
Missense |
2/16 |
- |
1 |
2-47635671-AA-CC |
c.343_344delinsCC |
p.N115P |
Missense |
2/16 |
- |
1 |
2-47635671-AAT-GAG |
c.343_345delinsGAG |
p.N115E |
Missense |
2/16 |
- |
1 |
2-47635671-AA-GT |
c.343_344delinsGT |
p.N115V |
Missense |
2/16 |
- |
1 |
2-47635671-A-T |
c.343A>T |
p.N115Y |
Missense |
2/16 |
- |
3 |
2-47635671-AA-CT |
c.343_344delinsCT |
p.N115L |
Missense |
2/16 |
- |
1 |
2-47635671-AA-TT |
c.343_344inv |
p.N115F |
Missense |
2/16 |
- |
1 |
2-47635671-AAT-TGG |
c.343_345delinsTGG |
p.N115W |
Missense |
2/16 |
- |
1 |
2-47635671-A-C |
c.343A>C |
p.N115H |
Missense |
2/16 |
- |
2 |
2-47635671-A-G |
c.343A>G |
p.N115D |
Missense |
2/16 |
- |
4 |
2-47635671-AA-GG |
c.343_344delinsGG |
p.N115G |
Missense |
2/16 |
- |
1 |
2-47635670-GA-G |
c.344del |
p.N115Mfs*59 |
Frameshift |
2/16 |
- |
4 |
2-47635672-A-G |
c.344A>G |
p.N115S |
Missense |
2/16 |
- |
4 |
2-47635672-AT-TG |
c.344_345delinsTG |
p.N115M |
Missense |
2/16 |
- |
2 |
2-47635672-AT-GG |
c.344_345delinsGG |
p.N115R |
Missense |
2/16 |
- |
1 |
2-47635672-A-T |
c.344A>T |
p.N115I |
Missense |
2/16 |
- |
2 |
2-47635672-A-C |
c.344A>C |
p.N115T |
Missense |
2/16 |
- |
2 |
2-47635673-T-G |
c.345T>G |
p.N115K |
Missense |
2/16 |
- |
2 |
2-47635673-T-A |
c.345T>A |
p.N115K |
Missense |
2/16 |
- |
2 |
2-47635674-G-A |
c.346G>A |
p.D116N |
Missense |
2/16 |
- |
4 |
2-47635674-GAT-AAG |
c.346_348delinsAAG |
p.D116K |
Missense |
2/16 |
- |
1 |
2-47635674-GA-CG |
c.346_347delinsCG |
p.D116R |
Missense |
2/16 |
- |
1 |
2-47635674-GA-CC |
c.346_347delinsCC |
p.D116P |
Missense |
2/16 |
- |
1 |
2-47635674-GA-CT |
c.346_347delinsCT |
p.D116L |
Missense |
2/16 |
- |
1 |
2-47635674-GA-AC |
c.346_347delinsAC |
p.D116T |
Missense |
2/16 |
- |
1 |
2-47635674-GAT-TGG |
c.346_348delinsTGG |
p.D116W |
Missense |
2/16 |
- |
1 |
2-47635674-GAT-CAA |
c.346_348delinsCAA |
p.D116Q |
Missense |
2/16 |
- |
1 |
2-47635674-G-T |
c.346G>T |
p.D116Y |
Missense |
2/16 |
- |
2 |
2-47635674-GAT-ATG |
c.346_348delinsATG |
p.D116M |
Missense |
2/16 |
- |
1 |
2-47635674-GA-AG |
c.346_347delinsAG |
p.D116S |
Missense |
2/16 |
- |
1 |
2-47635674-GA-TG |
c.346_347delinsTG |
p.D116C |
Missense |
2/16 |
- |
1 |
2-47635674-G-C |
c.346G>C |
p.D116H |
Missense |
2/16 |
- |
2 |
2-47635674-GA-TT |
c.346_347delinsTT |
p.D116F |
Missense |
2/16 |
- |
1 |
2-47635674-GA-AT |
c.346_347delinsAT |
p.D116I |
Missense |
2/16 |
- |
1 |
2-47635672-ATGAT-A |
c.347_350del |
p.D116Gfs*57 |
Frameshift |
2/16 |
- |
4 |
2-47635675-A-G |
c.347A>G |
p.D116G |
Missense |
2/16 |
- |
4 |
2-47635675-A-T |
c.347A>T |
p.D116V |
Missense |
2/16 |
- |
3 |
2-47635675-A-C |
c.347A>C |
p.D116A |
Missense |
2/16 |
- |
2 |
2-47635676-T-G |
c.348T>G |
p.D116E |
Missense |
2/16 |
- |
3 |
2-47635676-T-A |
c.348T>A |
p.D116E |
Missense |
2/16 |
- |
4 |
2-47635677-TGG-ATC |
c.349_351delinsATC |
p.W117I |
Missense |
2/16 |
- |
1 |
2-47635677-T-G |
c.349T>G |
p.W117G |
Missense |
2/16 |
- |
3 |
2-47635677-TG-AT |
c.349_350delinsAT |
p.W117M |
Missense |
2/16 |
- |
1 |
2-47635677-TGG-GAC |
c.349_351delinsGAC |
p.W117D |
Missense |
2/16 |
- |
1 |
2-47635677-TG-GA |
c.349_350delinsGA |
p.W117E |
Missense |
2/16 |
- |
1 |
2-47635677-TG-CC |
c.349_350delinsCC |
p.W117P |
Missense |
2/16 |
- |
1 |
2-47635677-TG-GC |
c.349_350delinsGC |
p.W117A |
Missense |
2/16 |
- |
2 |
2-47635677-TG-GT |
c.349_350delinsGT |
p.W117V |
Missense |
2/16 |
- |
1 |
2-47635677-TG-AC |
c.349_350delinsAC |
p.W117T |
Missense |
2/16 |
- |
1 |
2-47635677-T-A |
c.349T>A |
p.W117R |
Missense |
2/16 |
- |
2 |
2-47635677-T-C |
c.349T>C |
p.W117R |
Missense |
2/16 |
- |
2 |
2-47635677-TG-CA |
c.349_350inv |
p.W117Q |
Missense |
2/16 |
- |
1 |
2-47635677-TGG-AAC |
c.349_351delinsAAC |
p.W117N |
Missense |
2/16 |
- |
1 |
2-47635677-TG-AA |
c.349_350delinsAA |
p.W117K |
Missense |
2/16 |
- |
1 |
2-47635677-TGG-CAT |
c.349_351delinsCAT |
p.W117H |
Missense |
2/16 |
- |
1 |
2-47635678-G-A |
c.350G>A |
p.W117* |
Nonsense |
2/16 |
- |
6 |
2-47635678-GG-TT |
c.350_351delinsTT |
p.W117F |
Missense |
2/16 |
- |
1 |
2-47635678-GG-AT |
c.350_351delinsAT |
p.W117Y |
Missense |
2/16 |
- |
1 |
2-47635678-G-T |
c.350G>T |
p.W117L |
Missense |
2/16 |
- |
3 |
2-47635678-G-C |
c.350G>C |
p.W117S |
Missense |
2/16 |
- |
3 |
2-47635679-G-A |
c.351G>A |
p.W117* |
Nonsense |
2/16 |
- |
5 |
2-47635679-G-T |
c.351G>T |
p.W117C |
Missense |
2/16 |
- |
1 |
2-47635679-G-C |
c.351G>C |
p.W117C |
Missense |
2/16 |
- |
1 |
2-47635680-TA-CT |
c.352_353delinsCT |
p.Y118L |
Missense |
2/16 |
- |
2 |
2-47635680-TAT-AAG |
c.352_354delinsAAG |
p.Y118K |
Missense |
2/16 |
- |
1 |
2-47635680-TA-AT |
c.352_353delinsAT |
p.Y118I |
Missense |
2/16 |
- |
1 |
2-47635680-T-C |
c.352T>C |
p.Y118H |
Missense |
2/16 |
- |
4 |
2-47635680-TA-GG |
c.352_353delinsGG |
p.Y118G |
Missense |
2/16 |
- |
1 |
2-47635680-TAT-GAG |
c.352_354delinsGAG |
p.Y118E |
Missense |
2/16 |
- |
1 |
2-47635680-T-G |
c.352T>G |
p.Y118D |
Missense |
2/16 |
- |
2 |
2-47635680-TA-GC |
c.352_353delinsGC |
p.Y118A |
Missense |
2/16 |
- |
1 |
2-47635680-TAT-ATG |
c.352_354delinsATG |
p.Y118M |
Missense |
2/16 |
- |
1 |
2-47635680-T-A |
c.352T>A |
p.Y118N |
Missense |
2/16 |
- |
2 |
2-47635680-TA-CC |
c.352_353delinsCC |
p.Y118P |
Missense |
2/16 |
- |
1 |
2-47635680-TAT-CAA |
c.352_354delinsCAA |
p.Y118Q |
Missense |
2/16 |
- |
1 |
2-47635680-TA-CG |
c.352_353delinsCG |
p.Y118R |
Missense |
2/16 |
- |
1 |
2-47635680-TA-GT |
c.352_353delinsGT |
p.Y118V |
Missense |
2/16 |
- |
1 |
2-47635680-TA-AC |
c.352_353delinsAC |
p.Y118T |
Missense |
2/16 |
- |
1 |
2-47635679-G-GT |
c.352dup |
p.Y118Lfs*5 |
Frameshift |
2/16 |
- |
4 |
2-47635675-ATTGGTAT-A |
c.352_358del |
p.Y118Hfs*54 |
Frameshift |
2/16 |
- |
2 |
2-47635681-A-T |
c.353A>T |
p.Y118F |
Missense |
2/16 |
- |
2 |
2-47635681-A-G |
c.353A>G |
p.Y118C |
Missense |
2/16 |
- |
4 |
2-47635681-AT-GG |
c.353_354delinsGG |
p.Y118W |
Missense |
2/16 |
- |
1 |
2-47635681-A-C |
c.353A>C |
p.Y118S |
Missense |
2/16 |
- |
2 |
2-47635682-T-G |
c.354T>G |
p.Y118* |
Nonsense |
2/16 |
- |
2 |
2-47635683-T-G |
c.355T>G |
p.L119V |
Missense |
2/16 |
- |
2 |
2-47635683-TT-AC |
c.355_356delinsAC |
p.L119T |
Missense |
2/16 |
- |
1 |
2-47635683-TT-AG |
c.355_356delinsAG |
p.L119R |
Missense |
2/16 |
- |
1 |
2-47635683-TT-CA |
c.355_356delinsCA |
p.L119Q |
Missense |
2/16 |
- |
1 |
2-47635683-TT-CC |
c.355_356delinsCC |
p.L119P |
Missense |
2/16 |
- |
1 |
2-47635683-TTG-AAC |
c.355_357delinsAAC |
p.L119N |
Missense |
2/16 |
- |
1 |
2-47635683-T-A |
c.355T>A |
p.L119M |
Missense |
2/16 |
- |
2 |
2-47635683-TT-AA |
c.355_356inv |
p.L119K |
Missense |
2/16 |
- |
1 |
2-47635683-TTG-ATC |
c.355_357delinsATC |
p.L119I |
Missense |
2/16 |
- |
1 |
2-47635683-TTG-CAT |
c.355_357delinsCAT |
p.L119H |
Missense |
2/16 |
- |
1 |
2-47635683-TT-GG |
c.355_356delinsGG |
p.L119G |
Missense |
2/16 |
- |
1 |
2-47635683-TT-GA |
c.355_356delinsGA |
p.L119E |
Missense |
2/16 |
- |
1 |
2-47635683-TTG-GAC |
c.355_357delinsGAC |
p.L119D |
Missense |
2/16 |
- |
1 |
2-47635683-TT-GC |
c.355_356delinsGC |
p.L119A |
Missense |
2/16 |
- |
1 |
2-47635684-T-C |
c.356T>C |
p.L119S |
Missense |
2/16 |
- |
2 |
2-47635684-TG-GT |
c.356_357delinsGT |
p.L119C |
Missense |
2/16 |
- |
1 |
2-47635684-TG-AT |
c.356_357delinsAT |
p.L119Y |
Missense |
2/16 |
- |
1 |
2-47635684-T-G |
c.356T>G |
p.L119W |
Missense |
2/16 |
- |
2 |
2-47635684-T-A |
c.356T>A |
p.L119* |
Nonsense |
2/16 |
- |
1 |
2-47635685-G-T |
c.357G>T |
p.L119F |
Missense |
2/16 |
- |
2 |
2-47635685-G-C |
c.357G>C |
p.L119F |
Missense |
2/16 |
- |
2 |
2-47635686-G-A |
c.358G>A |
p.A120T |
Missense |
2/16 |
- |
4 |
2-47635686-GCA-TGT |
c.358_360delinsTGT |
p.A120C |
Missense |
2/16 |
- |
1 |
2-47635686-G-T |
c.358G>T |
p.A120S |
Missense |
2/16 |
- |
3 |
2-47635686-GCA-ATG |
c.358_360delinsATG |
p.A120M |
Missense |
2/16 |
- |
1 |
2-47635686-GCA-AAC |
c.358_360delinsAAC |
p.A120N |
Missense |
2/16 |
- |
1 |
2-47635686-GCA-TGG |
c.358_360delinsTGG |
p.A120W |
Missense |
2/16 |
- |
1 |
2-47635686-GCA-CAT |
c.358_360delinsCAT |
p.A120H |
Missense |
2/16 |
- |
1 |
2-47635686-GC-CT |
c.358_359delinsCT |
p.A120L |
Missense |
2/16 |
- |
1 |
2-47635686-GC-AG |
c.358_359delinsAG |
p.A120R |
Missense |
2/16 |
- |
1 |
2-47635686-G-C |
c.358G>C |
p.A120P |
Missense |
2/16 |
- |
2 |
2-47635686-GC-CA |
c.358_359delinsCA |
p.A120Q |
Missense |
2/16 |
- |
1 |
2-47635686-GCA-TTT |
c.358_360delinsTTT |
p.A120F |
Missense |
2/16 |
- |
1 |
2-47635686-GC-AT |
c.358_359delinsAT |
p.A120I |
Missense |
2/16 |
- |
1 |
2-47635686-GC-AA |
c.358_359delinsAA |
p.A120K |
Missense |
2/16 |
- |
1 |
2-47635686-GCA-TAT |
c.358_360delinsTAT |
p.A120Y |
Missense |
2/16 |
- |
1 |
2-47635687-C-G |
c.359C>G |
p.A120G |
Missense |
2/16 |
- |
2 |
2-47635687-C-A |
c.359C>A |
p.A120E |
Missense |
2/16 |
- |
3 |
2-47635687-C-T |
c.359C>T |
p.A120V |
Missense |
2/16 |
- |
2 |
2-47635687-CA-AC |
c.359_360delinsAC |
p.A120D |
Missense |
2/16 |
- |
1 |
2-47635688-A-C |
c.360A>C |
p.A120= |
Synonymous |
2/16 |
- |
1 |
2-47635688-A-G |
c.360A>G |
p.A120= |
Synonymous |
2/16 |
- |
1 |
2-47635689-TA-CC |
c.361_362delinsCC |
p.Y121P |
Missense |
2/16 |
- |
1 |
2-47635689-TA-CG |
c.361_362delinsCG |
p.Y121R |
Missense |
2/16 |
- |
1 |
2-47635689-TA-GC |
c.361_362delinsGC |
p.Y121A |
Missense |
2/16 |
- |
2 |
2-47635689-TA-GG |
c.361_362delinsGG |
p.Y121G |
Missense |
2/16 |
- |
1 |
2-47635689-TAT-AAG |
c.361_363delinsAAG |
p.Y121K |
Missense |
2/16 |
- |
1 |
2-47635689-TA-GT |
c.361_362delinsGT |
p.Y121V |
Missense |
2/16 |
- |
1 |
2-47635689-TA-AC |
c.361_362delinsAC |
p.Y121T |
Missense |
2/16 |
- |
1 |
2-47635689-T-G |
c.361T>G |
p.Y121D |
Missense |
2/16 |
- |
1 |
2-47635689-TAT-CAA |
c.361_363delinsCAA |
p.Y121Q |
Missense |
2/16 |
- |
1 |
2-47635689-T-A |
c.361T>A |
p.Y121N |
Missense |
2/16 |
- |
4 |
2-47635689-TA-CT |
c.361_362delinsCT |
p.Y121L |
Missense |
2/16 |
- |
2 |
2-47635689-TAT-ATG |
c.361_363delinsATG |
p.Y121M |
Missense |
2/16 |
- |
1 |
2-47635689-T-C |
c.361T>C |
p.Y121H |
Missense |
2/16 |
- |
2 |
2-47635689-TA-AT |
c.361_362delinsAT |
p.Y121I |
Missense |
2/16 |
- |
1 |
2-47635689-TAT-GAG |
c.361_363delinsGAG |
p.Y121E |
Missense |
2/16 |
- |
1 |
2-47635690-A-G |
c.362A>G |
p.Y121C |
Missense |
2/16 |
- |
8 |
2-47635690-TA-T |
c.362del |
p.Y121Lfs*53 |
Frameshift |
2/16 |
- |
3 |
2-47635690-A-T |
c.362A>T |
p.Y121F |
Missense |
2/16 |
- |
3 |
2-47635690-AT-GG |
c.362_363delinsGG |
p.Y121W |
Missense |
2/16 |
- |
1 |
2-47635690-A-C |
c.362A>C |
p.Y121S |
Missense |
2/16 |
- |
3 |
2-47635690-TATAA-T |
c.362_365del |
p.Y121Wfs*52 |
SpliceDonorDeletion |
2/16 |
- |
1 |
2-47635691-T-G |
c.363T>G |
p.Y121* |
Nonsense |
2/16 |
- |
6 |
2-47635691-AT-A |
c.363del |
p.Y121* |
Frameshift |
2/16 |
- |
1 |
2-47635692-A-C |
c.364A>C |
p.K122Q |
Missense |
2/16 |
- |
3 |
2-47635692-AAG-TTT |
c.364_366delinsTTT |
p.K122F |
Missense |
2/16 |
- |
1 |
2-47635692-AA-GG |
c.364_365delinsGG |
p.K122G |
Missense |
2/16 |
- |
1 |
2-47635692-AAG-TGT |
c.364_366delinsTGT |
p.K122C |
Missense |
2/16 |
- |
1 |
2-47635692-AAG-GAC |
c.364_366delinsGAC |
p.K122D |
Missense |
2/16 |
- |
1 |
2-47635692-AA-GC |
c.364_365delinsGC |
p.K122A |
Missense |
2/16 |
- |
1 |
2-47635692-AA-GT |
c.364_365delinsGT |
p.K122V |
Missense |
2/16 |
- |
1 |
2-47635692-AA-CT |
c.364_365delinsCT |
p.K122L |
Missense |
2/16 |
- |
1 |
2-47635692-AA-TG |
c.364_365delinsTG |
p.K122W |
Missense |
2/16 |
- |
1 |
2-47635692-AA-CC |
c.364_365delinsCC |
p.K122P |
Missense |
2/16 |
- |
1 |
2-47635692-A-G |
c.364A>G |
p.K122E |
Missense |
2/16 |
- |
2 |
2-47635692-AAG-CAT |
c.364_366delinsCAT |
p.K122H |
Missense |
2/16 |
- |
1 |
2-47635692-AAG-TAT |
c.364_366delinsTAT |
p.K122Y |
Missense |
2/16 |
- |
1 |
2-47635692-TAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATG-T |
c.364_366+56del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
2/16 |
2/15 |
1 |
2-47635693-A-G |
c.365A>G |
p.K122R |
Missense |
2/16 |
- |
2 |
2-47635693-A-T |
c.365A>T |
p.K122M |
Missense |
2/16 |
- |
3 |
2-47635693-A-C |
c.365A>C |
p.K122T |
Missense |
2/16 |
- |
2 |
2-47635693-AG-GC |
c.365_366delinsGC |
p.K122S |
Missense |
2/16 |
- |
1 |
2-47635693-AG-TC |
c.365_366delinsTC |
p.K122I |
Missense |
2/16 |
- |
1 |
2-47635691-T-TA |
c.365dup |
p.A123Gfs*10 |
SpliceDonorInsertion |
2/16 |
- |
1 |
2-47635693-A-CGG |
c.365delinsCGG |
p.K122Tfs*53 |
Frameshift |
2/16 |
- |
2 |
2-47635694-G-T |
c.366G>T |
p.K122N |
Missense |
2/16 |
- |
3 |
2-47635694-G-C |
c.366G>C |
p.K122N |
Missense |
2/16 |
- |
2 |
2-47635695-G-A |
c.366+1G>A |
- |
IntronicSNV |
- |
2/15 |
8 |
2-47635695-G-T |
c.366+1G>T |
- |
IntronicSNV |
- |
2/15 |
5 |
2-47635696-T-G |
c.366+2T>G |
- |
IntronicSNV |
- |
2/15 |
1 |
2-47635696-T-C |
c.366+2T>C |
- |
IntronicSNV |
- |
2/15 |
2 |
2-47635697-A-G |
c.366+3A>G |
- |
IntronicSNV |
- |
2/15 |
3 |
2-47635713-A-T |
c.366+19A>T |
- |
IntronicSNV |
- |
2/15 |
1 |
2-47637065-C-T |
c.367-168C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
2-47637125-A-C |
c.367-108A>C |
- |
IntronicSNV |
- |
2/15 |
1 |
2-47637125-A-G |
c.367-108A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
2-47637147-A-C |
c.367-86A>C |
- |
IntronicSNV |
- |
2/15 |
3 |
2-47637147-A-T |
c.367-86A>T |
- |
IntronicSNV |
- |
2/15 |
3 |
2-47637232-G-A |
c.367-1G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
2-47637232-G-T |
c.367-1G>T |
- |
IntronicSNV |
- |
2/15 |
1 |
2-47637233-G-A |
c.367G>A |
p.A123T |
Missense |
3/16 |
- |
6 |
2-47637233-G-C |
c.367G>C |
p.A123P |
Missense |
3/16 |
- |
1 |
2-47637233-GC-AA |
c.367_368delinsAA |
p.A123N |
Missense |
3/16 |
- |
1 |
2-47637233-GCT-ATG |
c.367_369delinsATG |
p.A123M |
Missense |
3/16 |
- |
1 |
2-47637233-GC-CT |
c.367_368delinsCT |
p.A123L |
Missense |
3/16 |
- |
1 |
2-47637233-GCT-AAG |
c.367_369delinsAAG |
p.A123K |
Missense |
3/16 |
- |
1 |
2-47637233-GC-AT |
c.367_368delinsAT |
p.A123I |
Missense |
3/16 |
- |
1 |
2-47637233-GC-CA |
c.367_368delinsCA |
p.A123H |
Missense |
3/16 |
- |
1 |
2-47637233-GC-TT |
c.367_368delinsTT |
p.A123F |
Missense |
3/16 |
- |
1 |
2-47637233-GC-TA |
c.367_368delinsTA |
p.A123Y |
Missense |
3/16 |
- |
1 |
2-47637233-GCT-TGG |
c.367_369delinsTGG |
p.A123W |
Missense |
3/16 |
- |
1 |
2-47637233-G-T |
c.367G>T |
p.A123S |
Missense |
3/16 |
- |
1 |
2-47637233-GC-CG |
c.367_368delinsCG |
p.A123R |
Missense |
3/16 |
- |
1 |
2-47637233-GCT-CAA |
c.367_369delinsCAA |
p.A123Q |
Missense |
3/16 |
- |
1 |
2-47637233-GC-TG |
c.367_368delinsTG |
p.A123C |
Missense |
3/16 |
- |
1 |
2-47637233-GGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTC-G |
c.367_425del |
p.A123Sfs*9 |
Multi:SpliceAcceptorDeletion,CdsStopDeletion |
3/16 |
- |
1 |
2-47637234-C-G |
c.368C>G |
p.A123G |
Missense |
3/16 |
- |
4 |
2-47637234-CT-AG |
c.368_369inv |
p.A123E |
Missense |
3/16 |
- |
1 |
2-47637234-C-T |
c.368C>T |
p.A123V |
Missense |
3/16 |
- |
3 |
2-47637234-C-A |
c.368C>A |
p.A123D |
Missense |
3/16 |
- |
1 |
2-47637234-GCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCA-G |
c.368_426del |
p.A123Gfs*9 |
InFrameDeletion |
3/16 |
- |
1 |
2-47637234-GC-G |
c.368del |
p.A123Vfs*51 |
Frameshift |
3/16 |
- |
4 |
2-47637235-T-A |
c.369T>A |
p.A123= |
Synonymous |
3/16 |
- |
1 |
2-47637235-T-C |
c.369T>C |
p.A123= |
Synonymous |
3/16 |
- |
1 |
2-47637235-T-G |
c.369T>G |
p.A123= |
Synonymous |
3/16 |
- |
1 |
2-47637236-TC-GG |
c.370_371delinsGG |
p.S124G |
Missense |
3/16 |
- |
1 |
2-47637236-TC-GT |
c.370_371delinsGT |
p.S124V |
Missense |
3/16 |
- |
1 |
2-47637236-T-A |
c.370T>A |
p.S124T |
Missense |
3/16 |
- |
2 |
2-47637236-TC-CG |
c.370_371delinsCG |
p.S124R |
Missense |
3/16 |
- |
1 |
2-47637236-TCT-CAA |
c.370_372delinsCAA |
p.S124Q |
Missense |
3/16 |
- |
1 |
2-47637236-T-C |
c.370T>C |
p.S124P |
Missense |
3/16 |
- |
3 |
2-47637236-TC-AA |
c.370_371delinsAA |
p.S124N |
Missense |
3/16 |
- |
1 |
2-47637236-TCT-ATG |
c.370_372delinsATG |
p.S124M |
Missense |
3/16 |
- |
1 |
2-47637236-TC-CT |
c.370_371delinsCT |
p.S124L |
Missense |
3/16 |
- |
1 |
2-47637236-TCT-AAG |
c.370_372delinsAAG |
p.S124K |
Missense |
3/16 |
- |
1 |
2-47637236-TCT-GAG |
c.370_372delinsGAG |
p.S124E |
Missense |
3/16 |
- |
1 |
2-47637236-TC-AT |
c.370_371delinsAT |
p.S124I |
Missense |
3/16 |
- |
1 |
2-47637236-TC-GA |
c.370_371inv |
p.S124D |
Missense |
3/16 |
- |
1 |
2-47637236-TC-CA |
c.370_371delinsCA |
p.S124H |
Missense |
3/16 |
- |
1 |
2-47637236-T-G |
c.370T>G |
p.S124A |
Missense |
3/16 |
- |
2 |
2-47637237-C-A |
c.371C>A |
p.S124Y |
Missense |
3/16 |
- |
2 |
2-47637237-C-T |
c.371C>T |
p.S124F |
Missense |
3/16 |
- |
4 |
2-47637237-CT-GG |
c.371_372delinsGG |
p.S124W |
Missense |
3/16 |
- |
1 |
2-47637237-C-G |
c.371C>G |
p.S124C |
Missense |
3/16 |
- |
3 |
2-47637238-T-C |
c.372T>C |
p.S124= |
Synonymous |
3/16 |
- |
1 |
2-47637239-C-T |
c.373C>T |
p.P125S |
Missense |
3/16 |
- |
7 |
2-47637239-C-A |
c.373C>A |
p.P125T |
Missense |
3/16 |
- |
4 |
2-47637239-CC-GA |
c.373_374delinsGA |
p.P125D |
Missense |
3/16 |
- |
1 |
2-47637239-CC-TG |
c.373_374delinsTG |
p.P125C |
Missense |
3/16 |
- |
1 |
2-47637239-C-G |
c.373C>G |
p.P125A |
Missense |
3/16 |
- |
2 |
2-47637239-CCT-AAG |
c.373_375delinsAAG |
p.P125K |
Missense |
3/16 |
- |
1 |
2-47637239-CC-AA |
c.373_374delinsAA |
p.P125N |
Missense |
3/16 |
- |
1 |
2-47637239-CC-AT |
c.373_374delinsAT |
p.P125I |
Missense |
3/16 |
- |
1 |
2-47637239-CC-GG |
c.373_374inv |
p.P125G |
Missense |
3/16 |
- |
1 |
2-47637239-CC-GT |
c.373_374delinsGT |
p.P125V |
Missense |
3/16 |
- |
1 |
2-47637239-CC-TA |
c.373_374delinsTA |
p.P125Y |
Missense |
3/16 |
- |
1 |
2-47637239-CCT-TGG |
c.373_375delinsTGG |
p.P125W |
Missense |
3/16 |
- |
1 |
2-47637239-CC-TT |
c.373_374delinsTT |
p.P125F |
Missense |
3/16 |
- |
1 |
2-47637239-CCT-ATG |
c.373_375delinsATG |
p.P125M |
Missense |
3/16 |
- |
1 |
2-47637239-CCT-GAG |
c.373_375delinsGAG |
p.P125E |
Missense |
3/16 |
- |
1 |
2-47637240-C-T |
c.374C>T |
p.P125L |
Missense |
3/16 |
- |
7 |
2-47637240-C-A |
c.374C>A |
p.P125H |
Missense |
3/16 |
- |
2 |
2-47637240-CT-AA |
c.374_375delinsAA |
p.P125Q |
Missense |
3/16 |
- |
1 |
2-47637240-C-G |
c.374C>G |
p.P125R |
Missense |
3/16 |
- |
2 |
2-47637238-T-TC |
c.374dup |
p.G126Wfs*7 |
Frameshift |
3/16 |
- |
1 |
2-47637241-T-C |
c.375T>C |
p.P125= |
Synonymous |
3/16 |
- |
1 |
2-47637242-G-A |
c.376G>A |
p.G126S |
Missense |
3/16 |
- |
7 |
2-47637242-GGC-ATG |
c.376_378delinsATG |
p.G126M |
Missense |
3/16 |
- |
1 |
2-47637242-G-T |
c.376G>T |
p.G126C |
Missense |
3/16 |
- |
3 |
2-47637242-GGC-AAG |
c.376_378delinsAAG |
p.G126K |
Missense |
3/16 |
- |
1 |
2-47637242-GG-TA |
c.376_377delinsTA |
p.G126Y |
Missense |
3/16 |
- |
1 |
2-47637242-GGC-TGG |
c.376_378delinsTGG |
p.G126W |
Missense |
3/16 |
- |
1 |
2-47637242-G-C |
c.376G>C |
p.G126R |
Missense |
3/16 |
- |
2 |
2-47637242-GG-AA |
c.376_377delinsAA |
p.G126N |
Missense |
3/16 |
- |
1 |
2-47637242-GG-AC |
c.376_377delinsAC |
p.G126T |
Missense |
3/16 |
- |
1 |
2-47637242-GGC-CAA |
c.376_378delinsCAA |
p.G126Q |
Missense |
3/16 |
- |
1 |
2-47637242-GG-TT |
c.376_377delinsTT |
p.G126F |
Missense |
3/16 |
- |
1 |
2-47637242-GG-CC |
c.376_377inv |
p.G126P |
Missense |
3/16 |
- |
1 |
2-47637242-GG-CA |
c.376_377delinsCA |
p.G126H |
Missense |
3/16 |
- |
1 |
2-47637242-GG-CT |
c.376_377delinsCT |
p.G126L |
Missense |
3/16 |
- |
1 |
2-47637242-GG-AT |
c.376_377delinsAT |
p.G126I |
Missense |
3/16 |
- |
1 |
2-47637243-G-A |
c.377G>A |
p.G126D |
Missense |
3/16 |
- |
7 |
2-47637241-TG-T |
c.377del |
p.G126Afs*48 |
Frameshift |
3/16 |
- |
1 |
2-47637243-G-T |
c.377G>T |
p.G126V |
Missense |
3/16 |
- |
2 |
2-47637243-G-C |
c.377G>C |
p.G126A |
Missense |
3/16 |
- |
2 |
2-47637243-GC-AG |
c.377_378delinsAG |
p.G126E |
Missense |
3/16 |
- |
2 |
2-47637245-A-G |
c.379A>G |
p.N127D |
Missense |
3/16 |
- |
3 |
2-47637245-AA-GG |
c.379_380delinsGG |
p.N127G |
Missense |
3/16 |
- |
1 |
2-47637245-AAT-TGG |
c.379_381delinsTGG |
p.N127W |
Missense |
3/16 |
- |
1 |
2-47637245-A-T |
c.379A>T |
p.N127Y |
Missense |
3/16 |
- |
3 |
2-47637245-AA-TT |
c.379_380inv |
p.N127F |
Missense |
3/16 |
- |
1 |
2-47637245-A-C |
c.379A>C |
p.N127H |
Missense |
3/16 |
- |
3 |
2-47637245-AAT-GAG |
c.379_381delinsGAG |
p.N127E |
Missense |
3/16 |
- |
1 |
2-47637245-AA-TG |
c.379_380delinsTG |
p.N127C |
Missense |
3/16 |
- |
1 |
2-47637245-AA-GT |
c.379_380delinsGT |
p.N127V |
Missense |
3/16 |
- |
1 |
2-47637245-AAT-CAA |
c.379_381delinsCAA |
p.N127Q |
Missense |
3/16 |
- |
1 |
2-47637245-AA-GC |
c.379_380delinsGC |
p.N127A |
Missense |
3/16 |
- |
1 |
2-47637245-AA-CC |
c.379_380delinsCC |
p.N127P |
Missense |
3/16 |
- |
1 |
2-47637245-AA-CT |
c.379_380delinsCT |
p.N127L |
Missense |
3/16 |
- |
1 |
2-47637246-A-G |
c.380A>G |
p.N127S |
Missense |
3/16 |
- |
43 |
2-47637246-A-T |
c.380A>T |
p.N127I |
Missense |
3/16 |
- |
6 |
2-47637246-AT-GG |
c.380_381delinsGG |
p.N127R |
Missense |
3/16 |
- |
1 |
2-47637246-A-C |
c.380A>C |
p.N127T |
Missense |
3/16 |
- |
6 |
2-47637246-AT-TG |
c.380_381delinsTG |
p.N127M |
Missense |
3/16 |
- |
1 |
2-47637246-AAT-A |
c.380_381del |
p.N127Tfs*5 |
Frameshift |
3/16 |
- |
3 |
2-47637244-C-CA |
c.380dup |
p.N127Kfs*6 |
Frameshift |
3/16 |
- |
1 |
2-47637247-T-G |
c.381T>G |
p.N127K |
Missense |
3/16 |
- |
3 |
2-47637247-T-A |
c.381T>A |
p.N127K |
Missense |
3/16 |
- |
3 |
2-47637247-T-C |
c.381T>C |
p.N127= |
Synonymous |
3/16 |
- |
1 |
2-47637248-C-G |
c.382C>G |
p.L128V |
Missense |
3/16 |
- |
17 |
2-47637248-CT-GG |
c.382_383delinsGG |
p.L128G |
Missense |
3/16 |
- |
1 |
2-47637248-C-A |
c.382C>A |
p.L128I |
Missense |
3/16 |
- |
2 |
2-47637248-CT-GC |
c.382_383delinsGC |
p.L128A |
Missense |
3/16 |
- |
2 |
2-47637248-C-T |
c.382C>T |
p.L128F |
Missense |
3/16 |
- |
2 |
2-47637248-CT-TA |
c.382_383delinsTA |
p.L128Y |
Missense |
3/16 |
- |
1 |
2-47637248-CTC-TGG |
c.382_384delinsTGG |
p.L128W |
Missense |
3/16 |
- |
1 |
2-47637248-CT-AC |
c.382_383delinsAC |
p.L128T |
Missense |
3/16 |
- |
1 |
2-47637248-CT-AG |
c.382_383inv |
p.L128S |
Missense |
3/16 |
- |
1 |
2-47637248-CTC-AAG |
c.382_384delinsAAG |
p.L128K |
Missense |
3/16 |
- |
1 |
2-47637248-CT-TG |
c.382_383delinsTG |
p.L128C |
Missense |
3/16 |
- |
1 |
2-47637248-CT-AA |
c.382_383delinsAA |
p.L128N |
Missense |
3/16 |
- |
1 |
2-47637248-CTC-GAG |
c.382_384inv |
p.L128E |
Missense |
3/16 |
- |
1 |
2-47637248-CT-GA |
c.382_383delinsGA |
p.L128D |
Missense |
3/16 |
- |
1 |
2-47637248-CTC-ATG |
c.382_384delinsATG |
p.L128M |
Missense |
3/16 |
- |
1 |
2-47637248-TC-T |
c.382del |
p.L128Sfs*46 |
Frameshift |
3/16 |
- |
1 |
2-47637249-T-G |
c.383T>G |
p.L128R |
Missense |
3/16 |
- |
6 |
2-47637249-TC-AA |
c.383_384delinsAA |
p.L128Q |
Missense |
3/16 |
- |
1 |
2-47637249-T-A |
c.383T>A |
p.L128H |
Missense |
3/16 |
- |
2 |
2-47637249-T-C |
c.383T>C |
p.L128P |
Missense |
3/16 |
- |
1 |
2-47637250-TC-T |
c.384del |
p.S129Lfs*45 |
Frameshift |
3/16 |
- |
1 |
2-47637250-C-A |
c.384C>A |
p.L128= |
Synonymous |
3/16 |
- |
2 |
2-47637250-C-G |
c.384C>G |
p.L128= |
Synonymous |
3/16 |
- |
2 |
2-47637250-C-T |
c.384C>T |
p.L128= |
Synonymous |
3/16 |
- |
2 |
2-47637250-C-CT |
c.385dup |
p.S129Ffs*4 |
Frameshift |
3/16 |
- |
1 |
2-47637251-TC-GT |
c.385_386delinsGT |
p.S129V |
Missense |
3/16 |
- |
1 |
2-47637251-T-A |
c.385T>A |
p.S129T |
Missense |
3/16 |
- |
2 |
2-47637251-TC-AA |
c.385_386delinsAA |
p.S129N |
Missense |
3/16 |
- |
1 |
2-47637251-TC-CG |
c.385_386delinsCG |
p.S129R |
Missense |
3/16 |
- |
1 |
2-47637251-TCT-CAA |
c.385_387delinsCAA |
p.S129Q |
Missense |
3/16 |
- |
1 |
2-47637251-T-C |
c.385T>C |
p.S129P |
Missense |
3/16 |
- |
4 |
2-47637251-TCT-ATG |
c.385_387delinsATG |
p.S129M |
Missense |
3/16 |
- |
1 |
2-47637251-TC-CT |
c.385_386delinsCT |
p.S129L |
Missense |
3/16 |
- |
1 |
2-47637251-TCT-AAG |
c.385_387delinsAAG |
p.S129K |
Missense |
3/16 |
- |
1 |
2-47637251-TC-AT |
c.385_386delinsAT |
p.S129I |
Missense |
3/16 |
- |
1 |
2-47637251-TC-CA |
c.385_386delinsCA |
p.S129H |
Missense |
3/16 |
- |
1 |
2-47637251-TC-GG |
c.385_386delinsGG |
p.S129G |
Missense |
3/16 |
- |
1 |
2-47637251-TCT-GAG |
c.385_387delinsGAG |
p.S129E |
Missense |
3/16 |
- |
1 |
2-47637251-TC-GA |
c.385_386inv |
p.S129D |
Missense |
3/16 |
- |
1 |
2-47637251-T-G |
c.385T>G |
p.S129A |
Missense |
3/16 |
- |
2 |
2-47637252-C-G |
c.386C>G |
p.S129C |
Missense |
3/16 |
- |
7 |
2-47637252-C-A |
c.386C>A |
p.S129Y |
Missense |
3/16 |
- |
2 |
2-47637252-CT-GG |
c.386_387delinsGG |
p.S129W |
Missense |
3/16 |
- |
1 |
2-47637252-C-T |
c.386C>T |
p.S129F |
Missense |
3/16 |
- |
4 |
2-47637252-CT-AA |
c.386_387delinsAA |
p.S129* |
Nonsense |
3/16 |
- |
1 |
2-47637246-ATC-A |
c.387_388del |
p.Q130Vfs*2 |
Frameshift |
3/16 |
- |
10 |
2-47637254-CA-GT |
c.388_389delinsGT |
p.Q130V |
Missense |
3/16 |
- |
3 |
2-47637254-TCA-T |
c.388_389del |
p.Q130Vfs*2 |
Frameshift |
3/16 |
- |
21 |
2-47637254-C-T |
c.388C>T |
p.Q130* |
Nonsense |
3/16 |
- |
4 |
2-47637254-CAG-TTT |
c.388_390delinsTTT |
p.Q130F |
Missense |
3/16 |
- |
1 |
2-47637254-C-G |
c.388C>G |
p.Q130E |
Missense |
3/16 |
- |
2 |
2-47637254-CAG-GAC |
c.388_390delinsGAC |
p.Q130D |
Missense |
3/16 |
- |
1 |
2-47637254-CAG-TGT |
c.388_390delinsTGT |
p.Q130C |
Missense |
3/16 |
- |
1 |
2-47637254-CA-GC |
c.388_389delinsGC |
p.Q130A |
Missense |
3/16 |
- |
2 |
2-47637254-CAG-AAC |
c.388_390delinsAAC |
p.Q130N |
Missense |
3/16 |
- |
1 |
2-47637254-CA-AT |
c.388_389delinsAT |
p.Q130M |
Missense |
3/16 |
- |
1 |
2-47637254-C-A |
c.388C>A |
p.Q130K |
Missense |
3/16 |
- |
2 |
2-47637254-CAG-ATC |
c.388_390delinsATC |
p.Q130I |
Missense |
3/16 |
- |
1 |
2-47637254-CA-GG |
c.388_389delinsGG |
p.Q130G |
Missense |
3/16 |
- |
1 |
2-47637254-CA-TG |
c.388_389inv |
p.Q130W |
Missense |
3/16 |
- |
1 |
2-47637254-CA-TC |
c.388_389delinsTC |
p.Q130S |
Missense |
3/16 |
- |
1 |
2-47637254-CAG-TAT |
c.388_390delinsTAT |
p.Q130Y |
Missense |
3/16 |
- |
1 |
2-47637254-CA-AC |
c.388_389delinsAC |
p.Q130T |
Missense |
3/16 |
- |
1 |
2-47637255-A-G |
c.389A>G |
p.Q130R |
Missense |
3/16 |
- |
3 |
2-47637255-A-C |
c.389A>C |
p.Q130P |
Missense |
3/16 |
- |
2 |
2-47637255-A-T |
c.389A>T |
p.Q130L |
Missense |
3/16 |
- |
2 |
2-47637256-G-T |
c.390G>T |
p.Q130H |
Missense |
3/16 |
- |
3 |
2-47637256-G-C |
c.390G>C |
p.Q130H |
Missense |
3/16 |
- |
3 |
2-47637257-TT-AC |
c.391_392delinsAC |
p.F131T |
Missense |
3/16 |
- |
1 |
2-47637257-TT-GC |
c.391_392delinsGC |
p.F131A |
Missense |
3/16 |
- |
1 |
2-47637257-TT-CC |
c.391_392delinsCC |
p.F131P |
Missense |
3/16 |
- |
1 |
2-47637257-TTT-AAG |
c.391_393delinsAAG |
p.F131K |
Missense |
3/16 |
- |
1 |
2-47637257-TT-GA |
c.391_392delinsGA |
p.F131D |
Missense |
3/16 |
- |
1 |
2-47637257-TT-CA |
c.391_392delinsCA |
p.F131H |
Missense |
3/16 |
- |
1 |
2-47637257-TT-CG |
c.391_392delinsCG |
p.F131R |
Missense |
3/16 |
- |
1 |
2-47637257-TT-AA |
c.391_392inv |
p.F131N |
Missense |
3/16 |
- |
1 |
2-47637257-TTT-CAA |
c.391_393delinsCAA |
p.F131Q |
Missense |
3/16 |
- |
1 |
2-47637257-TTT-GAG |
c.391_393delinsGAG |
p.F131E |
Missense |
3/16 |
- |
1 |
2-47637257-TT-GG |
c.391_392delinsGG |
p.F131G |
Missense |
3/16 |
- |
1 |
2-47637257-T-C |
c.391T>C |
p.F131L |
Missense |
3/16 |
- |
3 |
2-47637259-T-A |
c.393T>A |
p.F131L |
Missense |
3/16 |
- |
3 |
2-47637259-T-G |
c.393T>G |
p.F131L |
Missense |
3/16 |
- |
4 |
2-47637257-T-A |
c.391T>A |
p.F131I |
Missense |
3/16 |
- |
2 |
2-47637257-T-G |
c.391T>G |
p.F131V |
Missense |
3/16 |
- |
4 |
2-47637257-TTT-ATG |
c.391_393delinsATG |
p.F131M |
Missense |
3/16 |
- |
1 |
2-47637258-T-G |
c.392T>G |
p.F131C |
Missense |
3/16 |
- |
3 |
2-47637258-T-A |
c.392T>A |
p.F131Y |
Missense |
3/16 |
- |
2 |
2-47637258-TT-GG |
c.392_393delinsGG |
p.F131W |
Missense |
3/16 |
- |
1 |
2-47637258-T-C |
c.392T>C |
p.F131S |
Missense |
3/16 |
- |
2 |
2-47637260-G-T |
c.394G>T |
p.E132* |
Nonsense |
3/16 |
- |
1 |
2-47637260-G-A |
c.394G>A |
p.E132K |
Missense |
3/16 |
- |
3 |
2-47637260-GAA-TGT |
c.394_396delinsTGT |
p.E132C |
Missense |
3/16 |
- |
1 |
2-47637260-GAA-TTT |
c.394_396delinsTTT |
p.E132F |
Missense |
3/16 |
- |
1 |
2-47637260-GAA-ATG |
c.394_396delinsATG |
p.E132M |
Missense |
3/16 |
- |
1 |
2-47637260-GAA-CAT |
c.394_396delinsCAT |
p.E132H |
Missense |
3/16 |
- |
1 |
2-47637260-GA-AT |
c.394_395delinsAT |
p.E132I |
Missense |
3/16 |
- |
1 |
2-47637260-GA-CT |
c.394_395delinsCT |
p.E132L |
Missense |
3/16 |
- |
1 |
2-47637260-GA-TC |
c.394_395inv |
p.E132S |
Missense |
3/16 |
- |
1 |
2-47637260-GA-CC |
c.394_395delinsCC |
p.E132P |
Missense |
3/16 |
- |
1 |
2-47637260-GAA-AAC |
c.394_396delinsAAC |
p.E132N |
Missense |
3/16 |
- |
1 |
2-47637260-GA-AG |
c.394_395delinsAG |
p.E132R |
Missense |
3/16 |
- |
1 |
2-47637260-GA-AC |
c.394_395delinsAC |
p.E132T |
Missense |
3/16 |
- |
1 |
2-47637260-G-C |
c.394G>C |
p.E132Q |
Missense |
3/16 |
- |
2 |
2-47637260-GAA-TAT |
c.394_396delinsTAT |
p.E132Y |
Missense |
3/16 |
- |
1 |
2-47637260-GAA-TGG |
c.394_396delinsTGG |
p.E132W |
Missense |
3/16 |
- |
1 |
2-47637261-A-G |
c.395A>G |
p.E132G |
Missense |
3/16 |
- |
2 |
2-47637261-A-C |
c.395A>C |
p.E132A |
Missense |
3/16 |
- |
2 |
2-47637261-A-T |
c.395A>T |
p.E132V |
Missense |
3/16 |
- |
2 |
2-47637262-A-C |
c.396A>C |
p.E132D |
Missense |
3/16 |
- |
3 |
2-47637262-A-T |
c.396A>T |
p.E132D |
Missense |
3/16 |
- |
3 |
2-47637263-G-C |
c.397G>C |
p.D133H |
Missense |
3/16 |
- |
3 |
2-47637263-GAC-TGG |
c.397_399delinsTGG |
p.D133W |
Missense |
3/16 |
- |
1 |
2-47637263-GA-TG |
c.397_398delinsTG |
p.D133C |
Missense |
3/16 |
- |
1 |
2-47637263-G-T |
c.397G>T |
p.D133Y |
Missense |
3/16 |
- |
2 |
2-47637263-GA-TT |
c.397_398delinsTT |
p.D133F |
Missense |
3/16 |
- |
1 |
2-47637263-GA-CC |
c.397_398delinsCC |
p.D133P |
Missense |
3/16 |
- |
1 |
2-47637263-GA-CG |
c.397_398delinsCG |
p.D133R |
Missense |
3/16 |
- |
1 |
2-47637263-GAC-ATG |
c.397_399delinsATG |
p.D133M |
Missense |
3/16 |
- |
1 |
2-47637263-GAC-AAG |
c.397_399delinsAAG |
p.D133K |
Missense |
3/16 |
- |
1 |
2-47637263-G-A |
c.397G>A |
p.D133N |
Missense |
3/16 |
- |
2 |
2-47637263-GA-CT |
c.397_398delinsCT |
p.D133L |
Missense |
3/16 |
- |
1 |
2-47637263-GA-AC |
c.397_398delinsAC |
p.D133T |
Missense |
3/16 |
- |
1 |
2-47637263-GA-AG |
c.397_398delinsAG |
p.D133S |
Missense |
3/16 |
- |
1 |
2-47637263-GAC-CAA |
c.397_399delinsCAA |
p.D133Q |
Missense |
3/16 |
- |
1 |
2-47637263-GA-AT |
c.397_398delinsAT |
p.D133I |
Missense |
3/16 |
- |
1 |
2-47637264-A-T |
c.398A>T |
p.D133V |
Missense |
3/16 |
- |
2 |
2-47637264-A-C |
c.398A>C |
p.D133A |
Missense |
3/16 |
- |
2 |
2-47637264-A-G |
c.398A>G |
p.D133G |
Missense |
3/16 |
- |
3 |
2-47637265-C-T |
c.399C>T |
p.D133= |
Synonymous |
3/16 |
- |
7 |
2-47637265-C-G |
c.399C>G |
p.D133E |
Missense |
3/16 |
- |
2 |
2-47637265-C-A |
c.399C>A |
p.D133E |
Missense |
3/16 |
- |
2 |
2-47637265-AC-A |
c.399del |
p.D133Efs*41 |
Frameshift |
3/16 |
- |
3 |
2-47637266-AT-CA |
c.400_401delinsCA |
p.I134H |
Missense |
3/16 |
- |
1 |
2-47637266-AT-GC |
c.400_401delinsGC |
p.I134A |
Missense |
3/16 |
- |
1 |
2-47637266-A-C |
c.400A>C |
p.I134L |
Missense |
3/16 |
- |
2 |
2-47637266-ATT-GAG |
c.400_402delinsGAG |
p.I134E |
Missense |
3/16 |
- |
1 |
2-47637266-AT-GG |
c.400_401delinsGG |
p.I134G |
Missense |
3/16 |
- |
1 |
2-47637266-ATT-CAA |
c.400_402delinsCAA |
p.I134Q |
Missense |
3/16 |
- |
1 |
2-47637266-AT-TG |
c.400_401delinsTG |
p.I134C |
Missense |
3/16 |
- |
1 |
2-47637266-AT-CC |
c.400_401delinsCC |
p.I134P |
Missense |
3/16 |
- |
1 |
2-47637266-A-T |
c.400A>T |
p.I134F |
Missense |
3/16 |
- |
3 |
2-47637266-AT-GA |
c.400_401delinsGA |
p.I134D |
Missense |
3/16 |
- |
1 |
2-47637266-ATT-TGG |
c.400_402delinsTGG |
p.I134W |
Missense |
3/16 |
- |
1 |
2-47637266-A-G |
c.400A>G |
p.I134V |
Missense |
3/16 |
- |
2 |
2-47637266-AT-TA |
c.400_401delinsTA |
p.I134Y |
Missense |
3/16 |
- |
1 |
2-47637267-TT-AG |
c.401_402delinsAG |
p.I134K |
Missense |
3/16 |
- |
1 |
2-47637267-TT-GG |
c.401_402delinsGG |
p.I134R |
Missense |
3/16 |
- |
1 |
2-47637267-T-A |
c.401T>A |
p.I134N |
Missense |
3/16 |
- |
2 |
2-47637267-T-C |
c.401T>C |
p.I134T |
Missense |
3/16 |
- |
3 |
2-47637267-T-G |
c.401T>G |
p.I134S |
Missense |
3/16 |
- |
2 |
2-47637268-T-G |
c.402T>G |
p.I134M |
Missense |
3/16 |
- |
1 |
2-47637268-T-C |
c.402T>C |
p.I134= |
Synonymous |
3/16 |
- |
1 |
2-47637266-AT-A |
c.402del |
p.L135Sfs*39 |
Frameshift |
3/16 |
- |
1 |
2-47637269-CT-TA |
c.403_404delinsTA |
p.L135Y |
Missense |
3/16 |
- |
2 |
2-47637269-C-T |
c.403C>T |
p.L135F |
Missense |
3/16 |
- |
7 |
2-47637269-C-G |
c.403C>G |
p.L135V |
Missense |
3/16 |
- |
7 |
2-47637269-CT-AA |
c.403_404delinsAA |
p.L135N |
Missense |
3/16 |
- |
1 |
2-47637269-CTC-ATG |
c.403_405delinsATG |
p.L135M |
Missense |
3/16 |
- |
1 |
2-47637269-CTC-AAG |
c.403_405delinsAAG |
p.L135K |
Missense |
3/16 |
- |
1 |
2-47637269-C-A |
c.403C>A |
p.L135I |
Missense |
3/16 |
- |
2 |
2-47637269-CT-GG |
c.403_404delinsGG |
p.L135G |
Missense |
3/16 |
- |
1 |
2-47637269-CTC-GAG |
c.403_405inv |
p.L135E |
Missense |
3/16 |
- |
1 |
2-47637269-CT-GA |
c.403_404delinsGA |
p.L135D |
Missense |
3/16 |
- |
1 |
2-47637269-CTC-TGG |
c.403_405delinsTGG |
p.L135W |
Missense |
3/16 |
- |
1 |
2-47637269-CT-TG |
c.403_404delinsTG |
p.L135C |
Missense |
3/16 |
- |
1 |
2-47637269-CT-AC |
c.403_404delinsAC |
p.L135T |
Missense |
3/16 |
- |
1 |
2-47637269-CT-GC |
c.403_404delinsGC |
p.L135A |
Missense |
3/16 |
- |
1 |
2-47637269-CT-AG |
c.403_404inv |
p.L135S |
Missense |
3/16 |
- |
1 |
2-47637270-T-C |
c.404T>C |
p.L135P |
Missense |
3/16 |
- |
3 |
2-47637270-T-A |
c.404T>A |
p.L135H |
Missense |
3/16 |
- |
2 |
2-47637270-T-G |
c.404T>G |
p.L135R |
Missense |
3/16 |
- |
2 |
2-47637270-TC-AA |
c.404_405delinsAA |
p.L135Q |
Missense |
3/16 |
- |
1 |
2-47637271-C-T |
c.405C>T |
p.L135= |
Synonymous |
3/16 |
- |
1 |
2-47637272-TT-GG |
c.406_407delinsGG |
p.F136G |
Missense |
3/16 |
- |
1 |
2-47637272-TT-CG |
c.406_407delinsCG |
p.F136R |
Missense |
3/16 |
- |
1 |
2-47637272-TT-AC |
c.406_407delinsAC |
p.F136T |
Missense |
3/16 |
- |
1 |
2-47637272-T-G |
c.406T>G |
p.F136V |
Missense |
3/16 |
- |
2 |
2-47637272-TT-CC |
c.406_407delinsCC |
p.F136P |
Missense |
3/16 |
- |
1 |
2-47637272-TTT-AAG |
c.406_408delinsAAG |
p.F136K |
Missense |
3/16 |
- |
1 |
2-47637272-TTT-CAA |
c.406_408delinsCAA |
p.F136Q |
Missense |
3/16 |
- |
1 |
2-47637272-TT-AA |
c.406_407inv |
p.F136N |
Missense |
3/16 |
- |
1 |
2-47637272-TT-GA |
c.406_407delinsGA |
p.F136D |
Missense |
3/16 |
- |
1 |
2-47637272-TT-CA |
c.406_407delinsCA |
p.F136H |
Missense |
3/16 |
- |
1 |
2-47637272-TTT-GAG |
c.406_408delinsGAG |
p.F136E |
Missense |
3/16 |
- |
1 |
2-47637272-TTT-ATG |
c.406_408delinsATG |
p.F136M |
Missense |
3/16 |
- |
1 |
2-47637272-TT-GC |
c.406_407delinsGC |
p.F136A |
Missense |
3/16 |
- |
2 |
2-47637272-T-A |
c.406T>A |
p.F136I |
Missense |
3/16 |
- |
2 |
2-47637272-T-C |
c.406T>C |
p.F136L |
Missense |
3/16 |
- |
3 |
2-47637274-T-A |
c.408T>A |
p.F136L |
Missense |
3/16 |
- |
2 |
2-47637274-T-G |
c.408T>G |
p.F136L |
Missense |
3/16 |
- |
3 |
2-47637273-T-G |
c.407T>G |
p.F136C |
Missense |
3/16 |
- |
2 |
2-47637273-T-C |
c.407T>C |
p.F136S |
Missense |
3/16 |
- |
2 |
2-47637273-TT-GG |
c.407_408delinsGG |
p.F136W |
Missense |
3/16 |
- |
1 |
2-47637273-T-A |
c.407T>A |
p.F136Y |
Missense |
3/16 |
- |
2 |
2-47637273-TT-AA |
c.407_408inv |
p.F136* |
Nonsense |
3/16 |
- |
1 |
2-47637271-CT-C |
c.408del |
p.F136Lfs*38 |
Frameshift |
3/16 |
- |
7 |
2-47637275-G-C |
c.409G>C |
p.G137R |
Missense |
3/16 |
- |
7 |
2-47637275-G-T |
c.409G>T |
p.G137C |
Missense |
3/16 |
- |
3 |
2-47637275-G-A |
c.409G>A |
p.G137S |
Missense |
3/16 |
- |
1 |
2-47637276-G-A |
c.410G>A |
p.G137D |
Missense |
3/16 |
- |
2 |
2-47637276-G-C |
c.410G>C |
p.G137A |
Missense |
3/16 |
- |
1 |
2-47637276-G-T |
c.410G>T |
p.G137V |
Missense |
3/16 |
- |
2 |
2-47637278-A-C |
c.412A>C |
p.N138H |
Missense |
3/16 |
- |
1 |
2-47637278-A-G |
c.412A>G |
p.N138D |
Missense |
3/16 |
- |
2 |
2-47637278-A-T |
c.412A>T |
p.N138Y |
Missense |
3/16 |
- |
1 |
2-47637279-A-G |
c.413A>G |
p.N138S |
Missense |
3/16 |
- |
6 |
2-47637279-A-C |
c.413A>C |
p.N138T |
Missense |
3/16 |
- |
2 |
2-47637279-A-T |
c.413A>T |
p.N138I |
Missense |
3/16 |
- |
1 |
2-47637280-C-G |
c.414C>G |
p.N138K |
Missense |
3/16 |
- |
2 |
2-47637280-C-A |
c.414C>A |
p.N138K |
Missense |
3/16 |
- |
2 |
2-47637280-C-T |
c.414C>T |
p.N138= |
Synonymous |
3/16 |
- |
1 |
2-47637281-A-C |
c.415A>C |
p.N139H |
Missense |
3/16 |
- |
1 |
2-47637281-A-G |
c.415A>G |
p.N139D |
Missense |
3/16 |
- |
1 |
2-47637281-A-T |
c.415A>T |
p.N139Y |
Missense |
3/16 |
- |
1 |
2-47637282-A-G |
c.416A>G |
p.N139S |
Missense |
3/16 |
- |
6 |
2-47637282-A-C |
c.416A>C |
p.N139T |
Missense |
3/16 |
- |
2 |
2-47637280-CA-C |
c.416del |
p.N139Mfs*35 |
Frameshift |
3/16 |
- |
5 |
2-47637282-A-T |
c.416A>T |
p.N139I |
Missense |
3/16 |
- |
1 |
2-47637282-AT-TG |
c.416_417delinsTG |
p.N139M |
Missense |
3/16 |
- |
1 |
2-47637283-T-A |
c.417T>A |
p.N139K |
Missense |
3/16 |
- |
1 |
2-47637283-T-G |
c.417T>G |
p.N139K |
Missense |
3/16 |
- |
1 |
2-47637283-T-TG |
c.418dup |
p.D140Gfs*12 |
Frameshift |
3/16 |
- |
1 |
2-47637284-G-A |
c.418G>A |
p.D140N |
Missense |
3/16 |
- |
2 |
2-47637281-AATG-A |
c.418_420del |
p.D140del |
InFrameDeletion |
3/16 |
- |
1 |
2-47637284-G-C |
c.418G>C |
p.D140H |
Missense |
3/16 |
- |
1 |
2-47637284-G-T |
c.418G>T |
p.D140Y |
Missense |
3/16 |
- |
1 |
2-47637285-A-G |
c.419A>G |
p.D140G |
Missense |
3/16 |
- |
4 |
2-47637285-A-C |
c.419A>C |
p.D140A |
Missense |
3/16 |
- |
1 |
2-47637285-A-T |
c.419A>T |
p.D140V |
Missense |
3/16 |
- |
1 |
2-47637285-GA-G |
c.419del |
p.D140Vfs*34 |
Frameshift |
3/16 |
- |
1 |
2-47637285-A-AT |
c.420dup |
p.M141Yfs*11 |
Frameshift |
3/16 |
- |
5 |
2-47637286-T-A |
c.420T>A |
p.D140E |
Missense |
3/16 |
- |
1 |
2-47637286-T-G |
c.420T>G |
p.D140E |
Missense |
3/16 |
- |
1 |
2-47637287-A-G |
c.421A>G |
p.M141V |
Missense |
3/16 |
- |
6 |
2-47637284-GAT-G |
c.421_422del |
p.M141Vfs*10 |
Frameshift |
3/16 |
- |
3 |
2-47637287-A-C |
c.421A>C |
p.M141L |
Missense |
3/16 |
- |
1 |
2-47637287-A-T |
c.421A>T |
p.M141L |
Missense |
3/16 |
- |
1 |
2-47637287-ATG-TAT |
c.421_423delinsTAT |
p.M141Y |
Missense |
3/16 |
- |
1 |
2-47637288-T-C |
c.422T>C |
p.M141T |
Missense |
3/16 |
- |
4 |
2-47637288-T-A |
c.422T>A |
p.M141K |
Missense |
3/16 |
- |
1 |
2-47637288-T-G |
c.422T>G |
p.M141R |
Missense |
3/16 |
- |
1 |
2-47637289-G-T |
c.423G>T |
p.M141I |
Missense |
3/16 |
- |
2 |
2-47637289-G-A |
c.423G>A |
p.M141I |
Missense |
3/16 |
- |
1 |
2-47637289-G-C |
c.423G>C |
p.M141I |
Missense |
3/16 |
- |
1 |
2-47637290-TC-AT |
c.424_425delinsAT |
p.S142I |
Missense |
3/16 |
- |
1 |
2-47637289-G-GT |
c.424dup |
p.S142Ffs*10 |
Frameshift |
3/16 |
- |
1 |
2-47637290-T-A |
c.424T>A |
p.S142T |
Missense |
3/16 |
- |
1 |
2-47637290-T-C |
c.424T>C |
p.S142P |
Missense |
3/16 |
- |
1 |
2-47637290-T-G |
c.424T>G |
p.S142A |
Missense |
3/16 |
- |
2 |
2-47637291-C-G |
c.425C>G |
p.S142* |
Nonsense |
3/16 |
- |
9 |
2-47637291-C-T |
c.425C>T |
p.S142L |
Missense |
3/16 |
- |
4 |
2-47637291-C-A |
c.425C>A |
p.S142* |
Nonsense |
3/16 |
- |
4 |
2-47637292-A-G |
c.426A>G |
p.S142= |
Synonymous |
3/16 |
- |
1 |
2-47637292-A-AG |
c.427dup |
p.A143Gfs*9 |
Frameshift |
3/16 |
- |
1 |
2-47637293-G-A |
c.427G>A |
p.A143T |
Missense |
3/16 |
- |
3 |
2-47637293-G-C |
c.427G>C |
p.A143P |
Missense |
3/16 |
- |
1 |
2-47637293-G-T |
c.427G>T |
p.A143S |
Missense |
3/16 |
- |
2 |
2-47637294-GCT-G |
c.428_429del |
p.A143Vfs*8 |
Frameshift |
3/16 |
- |
1 |
2-47637294-C-A |
c.428C>A |
p.A143D |
Missense |
3/16 |
- |
1 |
2-47637294-C-G |
c.428C>G |
p.A143G |
Missense |
3/16 |
- |
2 |
2-47637294-C-T |
c.428C>T |
p.A143V |
Missense |
3/16 |
- |
1 |
2-47637296-TC-GG |
c.430_431delinsGG |
p.S144G |
Missense |
3/16 |
- |
1 |
2-47637296-TC-AT |
c.430_431delinsAT |
p.S144I |
Missense |
3/16 |
- |
3 |
2-47637296-T-A |
c.430T>A |
p.S144T |
Missense |
3/16 |
- |
1 |
2-47637296-T-C |
c.430T>C |
p.S144P |
Missense |
3/16 |
- |
1 |
2-47637296-T-G |
c.430T>G |
p.S144A |
Missense |
3/16 |
- |
1 |
2-47637296-TC-CT |
c.430_431delinsCT |
p.S144L |
Missense |
3/16 |
- |
1 |
2-47637297-C-G |
c.431C>G |
p.S144C |
Missense |
3/16 |
- |
4 |
2-47637297-C-T |
c.431C>T |
p.S144F |
Missense |
3/16 |
- |
3 |
2-47637297-C-A |
c.431C>A |
p.S144Y |
Missense |
3/16 |
- |
3 |
2-47637296-TC-T |
c.432del |
p.I145Lfs*29 |
Frameshift |
3/16 |
- |
1 |
2-47637298-C-T |
c.432C>T |
p.S144= |
Synonymous |
3/16 |
- |
1 |
2-47637299-A-G |
c.433A>G |
p.I145V |
Missense |
3/16 |
- |
5 |
2-47637299-A-C |
c.433A>C |
p.I145L |
Missense |
3/16 |
- |
1 |
2-47637299-A-T |
c.433A>T |
p.I145F |
Missense |
3/16 |
- |
1 |
2-47637300-T-A |
c.434T>A |
p.I145N |
Missense |
3/16 |
- |
1 |
2-47637300-T-C |
c.434T>C |
p.I145T |
Missense |
3/16 |
- |
2 |
2-47637300-T-G |
c.434T>G |
p.I145S |
Missense |
3/16 |
- |
1 |
2-47637301-T-G |
c.435T>G |
p.I145M |
Missense |
3/16 |
- |
36 |
2-47637302-G-A |
c.436G>A |
p.G146S |
Missense |
3/16 |
- |
1 |
2-47637302-G-C |
c.436G>C |
p.G146R |
Missense |
3/16 |
- |
2 |
2-47637302-G-T |
c.436G>T |
p.G146C |
Missense |
3/16 |
- |
1 |
2-47637303-G-T |
c.437G>T |
p.G146V |
Missense |
3/16 |
- |
6 |
2-47637303-G-A |
c.437G>A |
p.G146D |
Missense |
3/16 |
- |
1 |
2-47637303-G-C |
c.437G>C |
p.G146A |
Missense |
3/16 |
- |
1 |
2-47637304-T-C |
c.438T>C |
p.G146= |
Synonymous |
3/16 |
- |
3 |
2-47637305-G-A |
c.439G>A |
p.V147I |
Missense |
3/16 |
- |
5 |
2-47637305-G-C |
c.439G>C |
p.V147L |
Missense |
3/16 |
- |
1 |
2-47637305-G-T |
c.439G>T |
p.V147F |
Missense |
3/16 |
- |
1 |
2-47637306-T-A |
c.440T>A |
p.V147D |
Missense |
3/16 |
- |
2 |
2-47637306-T-G |
c.440T>G |
p.V147G |
Missense |
3/16 |
- |
4 |
2-47637306-T-C |
c.440T>C |
p.V147A |
Missense |
3/16 |
- |
4 |
2-47637305-G-GT |
c.441dup |
p.V148Cfs*4 |
Frameshift |
3/16 |
- |
1 |
2-47637308-G-T |
c.442G>T |
p.V148L |
Missense |
3/16 |
- |
5 |
2-47637308-GT-CC |
c.442_443delinsCC |
p.V148P |
Missense |
3/16 |
- |
1 |
2-47637308-GTG-TAT |
c.442_444delinsTAT |
p.V148Y |
Missense |
3/16 |
- |
1 |
2-47637308-GT-CA |
c.442_443delinsCA |
p.V148Q |
Missense |
3/16 |
- |
1 |
2-47637308-GTG-TGT |
c.442_444delinsTGT |
p.V148C |
Missense |
3/16 |
- |
1 |
2-47637308-GT-TG |
c.442_443delinsTG |
p.V148W |
Missense |
3/16 |
- |
1 |
2-47637308-GT-AC |
c.442_443inv |
p.V148T |
Missense |
3/16 |
- |
1 |
2-47637308-G-A |
c.442G>A |
p.V148M |
Missense |
3/16 |
- |
3 |
2-47637308-GTG-ATC |
c.442_444delinsATC |
p.V148I |
Missense |
3/16 |
- |
1 |
2-47637308-GT-AA |
c.442_443delinsAA |
p.V148K |
Missense |
3/16 |
- |
1 |
2-47637308-G-C |
c.442G>C |
p.V148L |
Missense |
3/16 |
- |
4 |
2-47637308-GTG-TTT |
c.442_444delinsTTT |
p.V148F |
Missense |
3/16 |
- |
1 |
2-47637308-GT-TC |
c.442_443delinsTC |
p.V148S |
Missense |
3/16 |
- |
1 |
2-47637308-GTG-CAT |
c.442_444delinsCAT |
p.V148H |
Missense |
3/16 |
- |
1 |
2-47637308-GTG-AAC |
c.442_444delinsAAC |
p.V148N |
Missense |
3/16 |
- |
1 |
2-47637308-GT-AG |
c.442_443delinsAG |
p.V148R |
Missense |
3/16 |
- |
1 |
2-47637309-T-A |
c.443T>A |
p.V148E |
Missense |
3/16 |
- |
5 |
2-47637309-T-C |
c.443T>C |
p.V148A |
Missense |
3/16 |
- |
3 |
2-47637309-T-G |
c.443T>G |
p.V148G |
Missense |
3/16 |
- |
3 |
2-47637309-TG-AC |
c.443_444delinsAC |
p.V148D |
Missense |
3/16 |
- |
1 |
2-47637309-GT-G |
c.443del |
p.V148Gfs*26 |
Frameshift |
3/16 |
- |
2 |
2-47637310-G-A |
c.444G>A |
p.V148= |
Synonymous |
3/16 |
- |
1 |
2-47637311-G-T |
c.445G>T |
p.G149C |
Missense |
3/16 |
- |
3 |
2-47637311-GG-AA |
c.445_446delinsAA |
p.G149N |
Missense |
3/16 |
- |
1 |
2-47637311-GG-AC |
c.445_446delinsAC |
p.G149T |
Missense |
3/16 |
- |
2 |
2-47637311-GGT-TGG |
c.445_447delinsTGG |
p.G149W |
Missense |
3/16 |
- |
1 |
2-47637311-G-A |
c.445G>A |
p.G149S |
Missense |
3/16 |
- |
2 |
2-47637311-G-C |
c.445G>C |
p.G149R |
Missense |
3/16 |
- |
3 |
2-47637311-GG-CA |
c.445_446delinsCA |
p.G149H |
Missense |
3/16 |
- |
1 |
2-47637311-GGT-CAA |
c.445_447delinsCAA |
p.G149Q |
Missense |
3/16 |
- |
1 |
2-47637311-GG-CC |
c.445_446inv |
p.G149P |
Missense |
3/16 |
- |
1 |
2-47637311-GGT-AAG |
c.445_447delinsAAG |
p.G149K |
Missense |
3/16 |
- |
1 |
2-47637311-GG-CT |
c.445_446delinsCT |
p.G149L |
Missense |
3/16 |
- |
1 |
2-47637311-GG-TT |
c.445_446delinsTT |
p.G149F |
Missense |
3/16 |
- |
1 |
2-47637311-GGT-ATG |
c.445_447delinsATG |
p.G149M |
Missense |
3/16 |
- |
1 |
2-47637311-GG-AT |
c.445_446delinsAT |
p.G149I |
Missense |
3/16 |
- |
1 |
2-47637311-GG-TA |
c.445_446delinsTA |
p.G149Y |
Missense |
3/16 |
- |
1 |
2-47637308-GTGGGTGTTAAAA-G |
c.445_456del |
p.G149_M152del |
InFrameDeletion |
3/16 |
- |
1 |
2-47637312-G-A |
c.446G>A |
p.G149D |
Missense |
3/16 |
- |
5 |
2-47637312-G-C |
c.446G>C |
p.G149A |
Missense |
3/16 |
- |
3 |
2-47637312-GT-AG |
c.446_447delinsAG |
p.G149E |
Missense |
3/16 |
- |
1 |
2-47637312-G-T |
c.446G>T |
p.G149V |
Missense |
3/16 |
- |
3 |
2-47637313-T-C |
c.447T>C |
p.G149= |
Synonymous |
3/16 |
- |
1 |
2-47637314-G-A |
c.448G>A |
p.V150I |
Missense |
3/16 |
- |
5 |
2-47637314-GT-TG |
c.448_449delinsTG |
p.V150C |
Missense |
3/16 |
- |
1 |
2-47637314-GTT-ATG |
c.448_450delinsATG |
p.V150M |
Missense |
3/16 |
- |
1 |
2-47637314-GT-AA |
c.448_449delinsAA |
p.V150N |
Missense |
3/16 |
- |
1 |
2-47637314-GT-CC |
c.448_449delinsCC |
p.V150P |
Missense |
3/16 |
- |
1 |
2-47637314-GTT-CAA |
c.448_450delinsCAA |
p.V150Q |
Missense |
3/16 |
- |
1 |
2-47637314-GTT-AAG |
c.448_450delinsAAG |
p.V150K |
Missense |
3/16 |
- |
1 |
2-47637314-G-T |
c.448G>T |
p.V150F |
Missense |
3/16 |
- |
3 |
2-47637314-GT-TA |
c.448_449delinsTA |
p.V150Y |
Missense |
3/16 |
- |
1 |
2-47637314-GTT-TGG |
c.448_450delinsTGG |
p.V150W |
Missense |
3/16 |
- |
1 |
2-47637314-GT-AC |
c.448_449inv |
p.V150T |
Missense |
3/16 |
- |
1 |
2-47637314-GT-CA |
c.448_449delinsCA |
p.V150H |
Missense |
3/16 |
- |
1 |
2-47637314-G-C |
c.448G>C |
p.V150L |
Missense |
3/16 |
- |
2 |
2-47637314-GT-AG |
c.448_449delinsAG |
p.V150S |
Missense |
3/16 |
- |
1 |
2-47637314-GT-CG |
c.448_449delinsCG |
p.V150R |
Missense |
3/16 |
- |
1 |
2-47637315-T-C |
c.449T>C |
p.V150A |
Missense |
3/16 |
- |
2 |
2-47637315-T-A |
c.449T>A |
p.V150D |
Missense |
3/16 |
- |
2 |
2-47637315-T-G |
c.449T>G |
p.V150G |
Missense |
3/16 |
- |
4 |
2-47637315-TT-AG |
c.449_450delinsAG |
p.V150E |
Missense |
3/16 |
- |
1 |
2-47637277-T-TAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTTAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAA |
c.450_451insTAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTT |
p.V150_K151ins* |
Nonsense |
3/16 |
- |
1 |
2-47637317-A-C |
c.451A>C |
p.K151Q |
Missense |
3/16 |
- |
2 |
2-47637317-AA-CC |
c.451_452delinsCC |
p.K151P |
Missense |
3/16 |
- |
1 |
2-47637317-AA-CT |
c.451_452delinsCT |
p.K151L |
Missense |
3/16 |
- |
1 |
2-47637317-AAA-CAT |
c.451_453delinsCAT |
p.K151H |
Missense |
3/16 |
- |
1 |
2-47637317-AA-GG |
c.451_452delinsGG |
p.K151G |
Missense |
3/16 |
- |
1 |
2-47637317-AAA-TTT |
c.451_453inv |
p.K151F |
Missense |
3/16 |
- |
1 |
2-47637317-A-G |
c.451A>G |
p.K151E |
Missense |
3/16 |
- |
2 |
2-47637317-AAA-GAC |
c.451_453delinsGAC |
p.K151D |
Missense |
3/16 |
- |
1 |
2-47637317-AAA-TGT |
c.451_453delinsTGT |
p.K151C |
Missense |
3/16 |
- |
1 |
2-47637317-AA-GC |
c.451_452delinsGC |
p.K151A |
Missense |
3/16 |
- |
1 |
2-47637317-AAA-TAT |
c.451_453delinsTAT |
p.K151Y |
Missense |
3/16 |
- |
1 |
2-47637317-AAA-TGG |
c.451_453delinsTGG |
p.K151W |
Missense |
3/16 |
- |
1 |
2-47637317-AA-GT |
c.451_452delinsGT |
p.K151V |
Missense |
3/16 |
- |
1 |
2-47637318-A-C |
c.452A>C |
p.K151T |
Missense |
3/16 |
- |
3 |
2-47637318-AA-GC |
c.452_453delinsGC |
p.K151S |
Missense |
3/16 |
- |
1 |
2-47637318-A-G |
c.452A>G |
p.K151R |
Missense |
3/16 |
- |
2 |
2-47637318-AA-TG |
c.452_453delinsTG |
p.K151M |
Missense |
3/16 |
- |
1 |
2-47637318-A-T |
c.452A>T |
p.K151I |
Missense |
3/16 |
- |
2 |
2-47637319-A-C |
c.453A>C |
p.K151N |
Missense |
3/16 |
- |
3 |
2-47637319-A-T |
c.453A>T |
p.K151N |
Missense |
3/16 |
- |
4 |
2-47637319-A-G |
c.453A>G |
p.K151= |
Synonymous |
3/16 |
- |
1 |
2-47637316-TA-T |
c.454del |
p.M152Cfs*22 |
Frameshift |
3/16 |
- |
7 |
2-47637320-A-G |
c.454A>G |
p.M152V |
Missense |
3/16 |
- |
3 |
2-47637320-AT-GG |
c.454_455delinsGG |
p.M152G |
Missense |
3/16 |
- |
1 |
2-47637320-ATG-TTT |
c.454_456delinsTTT |
p.M152F |
Missense |
3/16 |
- |
1 |
2-47637320-AT-GA |
c.454_455delinsGA |
p.M152E |
Missense |
3/16 |
- |
1 |
2-47637320-ATG-GAC |
c.454_456delinsGAC |
p.M152D |
Missense |
3/16 |
- |
1 |
2-47637320-ATG-TGT |
c.454_456delinsTGT |
p.M152C |
Missense |
3/16 |
- |
2 |
2-47637320-AT-GC |
c.454_455delinsGC |
p.M152A |
Missense |
3/16 |
- |
1 |
2-47637320-AT-TG |
c.454_455delinsTG |
p.M152W |
Missense |
3/16 |
- |
1 |
2-47637320-A-C |
c.454A>C |
p.M152L |
Missense |
3/16 |
- |
2 |
2-47637320-A-T |
c.454A>T |
p.M152L |
Missense |
3/16 |
- |
2 |
2-47637320-ATG-CAT |
c.454_456inv |
p.M152H |
Missense |
3/16 |
- |
1 |
2-47637320-AT-CC |
c.454_455delinsCC |
p.M152P |
Missense |
3/16 |
- |
1 |
2-47637320-AT-CA |
c.454_455delinsCA |
p.M152Q |
Missense |
3/16 |
- |
1 |
2-47637320-ATG-TAT |
c.454_456delinsTAT |
p.M152Y |
Missense |
3/16 |
- |
1 |
2-47637316-T-TA |
c.454dup |
p.M152Nfs*5 |
Frameshift |
3/16 |
- |
2 |
2-47637321-T-G |
c.455T>G |
p.M152R |
Missense |
3/16 |
- |
4 |
2-47637321-T-C |
c.455T>C |
p.M152T |
Missense |
3/16 |
- |
4 |
2-47637321-T-A |
c.455T>A |
p.M152K |
Missense |
3/16 |
- |
2 |
2-47637321-TG-GC |
c.455_456delinsGC |
p.M152S |
Missense |
3/16 |
- |
1 |
2-47637321-TG-AC |
c.455_456delinsAC |
p.M152N |
Missense |
3/16 |
- |
2 |
2-47637322-G-C |
c.456G>C |
p.M152I |
Missense |
3/16 |
- |
2 |
2-47637322-G-A |
c.456G>A |
p.M152I |
Missense |
3/16 |
- |
2 |
2-47637322-G-T |
c.456G>T |
p.M152I |
Missense |
3/16 |
- |
2 |
2-47637323-T-A |
c.457T>A |
p.S153T |
Missense |
3/16 |
- |
2 |
2-47637323-T-C |
c.457T>C |
p.S153P |
Missense |
3/16 |
- |
2 |
2-47637323-TC-AA |
c.457_458delinsAA |
p.S153N |
Missense |
3/16 |
- |
1 |
2-47637323-TC-GT |
c.457_458delinsGT |
p.S153V |
Missense |
3/16 |
- |
2 |
2-47637323-TCC-CAA |
c.457_459delinsCAA |
p.S153Q |
Missense |
3/16 |
- |
1 |
2-47637323-TC-CG |
c.457_458delinsCG |
p.S153R |
Missense |
3/16 |
- |
1 |
2-47637323-TC-CT |
c.457_458delinsCT |
p.S153L |
Missense |
3/16 |
- |
1 |
2-47637323-TC-GA |
c.457_458inv |
p.S153D |
Missense |
3/16 |
- |
1 |
|