2-47630331-A-G |
c.1A>G |
p.M1? |
Missense |
1/16 |
- |
7 |
2-47630331-A-C |
c.1A>C |
p.M1? |
Missense |
1/16 |
- |
7 |
2-47630331-A-T |
c.1A>T |
p.M1? |
Missense |
1/16 |
- |
5 |
2-47630331-CATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGT-C |
c.1_59del |
p.M1_?20 |
Multi:SpliceDonorDeletion,CdsStartDeletion |
1/16 |
- |
2 |
2-47630332-T-G |
c.2T>G |
p.M1? |
Missense |
1/16 |
- |
1 |
2-47630334-G-A |
c.4G>A |
p.A2T |
Missense |
1/16 |
- |
7 |
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 |
- |
2 |
2-47630335-C-A |
c.5C>A |
p.A2E |
Missense |
1/16 |
- |
2 |
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 |
- |
1 |
2-47630337-G-A |
c.7G>A |
p.V3M |
Missense |
1/16 |
- |
1 |
2-47630337-G-C |
c.7G>C |
p.V3L |
Missense |
1/16 |
- |
1 |
2-47630337-G-T |
c.7G>T |
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 |
2-47630340-C-T |
c.10C>T |
p.Q4* |
Nonsense |
1/16 |
- |
1 |
2-47630340-C-A |
c.10C>A |
p.Q4K |
Missense |
1/16 |
- |
1 |
2-47630341-A-C |
c.11A>C |
p.Q4P |
Missense |
1/16 |
- |
1 |
2-47630341-A-G |
c.11A>G |
p.Q4R |
Missense |
1/16 |
- |
1 |
2-47630341-A-T |
c.11A>T |
p.Q4L |
Missense |
1/16 |
- |
1 |
2-47630342-G-C |
c.12G>C |
p.Q4H |
Missense |
1/16 |
- |
1 |
2-47630342-G-T |
c.12G>T |
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 |
- |
13 |
2-47630344-C-T |
c.14C>T |
p.P5L |
Missense |
1/16 |
- |
2 |
2-47630344-C-G |
c.14C>G |
p.P5R |
Missense |
1/16 |
- |
1 |
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 |
2-47630345-G-T |
c.15G>T |
p.P5= |
Synonymous |
1/16 |
- |
1 |
2-47630345-G-A |
c.15G>A |
p.P5= |
Synonymous |
1/16 |
- |
1 |
2-47630345-G-C |
c.15G>C |
p.P5= |
Synonymous |
1/16 |
- |
1 |
2-47630346-A-C |
c.16A>C |
p.K6Q |
Missense |
1/16 |
- |
1 |
2-47630346-A-G |
c.16A>G |
p.K6E |
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 |
2-47630347-A-T |
c.17A>T |
p.K6M |
Missense |
1/16 |
- |
1 |
2-47630348-G-A |
c.18G>A |
p.K6= |
Synonymous |
1/16 |
- |
1 |
2-47630348-G-C |
c.18G>C |
p.K6N |
Missense |
1/16 |
- |
1 |
2-47630348-G-T |
c.18G>T |
p.K6N |
Missense |
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 |
- |
1 |
2-47630350-GA-G |
c.20del |
p.E7Gfs*57 |
Frameshift |
1/16 |
- |
1 |
2-47630350-A-C |
c.20A>C |
p.E7A |
Missense |
1/16 |
- |
1 |
2-47630350-A-G |
c.20A>G |
p.E7G |
Missense |
1/16 |
- |
1 |
2-47630350-A-T |
c.20A>T |
p.E7V |
Missense |
1/16 |
- |
1 |
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 |
- |
3 |
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 |
- |
1 |
2-47630353-C-T |
c.23C>T |
p.T8M |
Missense |
1/16 |
- |
14 |
2-47630353-C-G |
c.23C>G |
p.T8R |
Missense |
1/16 |
- |
3 |
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-T |
c.28C>T |
p.Q10* |
Nonsense |
1/16 |
- |
2 |
2-47630358-C-A |
c.28C>A |
p.Q10K |
Missense |
1/16 |
- |
1 |
2-47630358-C-G |
c.28C>G |
p.Q10E |
Missense |
1/16 |
- |
1 |
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-C |
c.30G>C |
p.Q10H |
Missense |
1/16 |
- |
1 |
2-47630360-G-T |
c.30G>T |
p.Q10H |
Missense |
1/16 |
- |
1 |
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 |
- |
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-C |
c.33G>C |
p.L11F |
Missense |
1/16 |
- |
1 |
2-47630363-G-T |
c.33G>T |
p.L11F |
Missense |
1/16 |
- |
1 |
2-47630364-G-A |
c.34G>A |
p.E12K |
Missense |
1/16 |
- |
2 |
2-47630364-G-C |
c.34G>C |
p.E12Q |
Missense |
1/16 |
- |
1 |
2-47630362-T-TG |
c.34dup |
p.E12Gfs*70 |
Frameshift |
1/16 |
- |
1 |
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 |
2-47630365-A-C |
c.35A>C |
p.E12A |
Missense |
1/16 |
- |
1 |
2-47630365-A-G |
c.35A>G |
p.E12G |
Missense |
1/16 |
- |
1 |
2-47630365-A-T |
c.35A>T |
p.E12V |
Missense |
1/16 |
- |
1 |
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 |
- |
2 |
2-47630367-AG-GC |
c.37_38delinsGC |
p.S13A |
Missense |
1/16 |
- |
5 |
2-47630367-A-T |
c.37A>T |
p.S13C |
Missense |
1/16 |
- |
5 |
2-47630367-AG-GA |
c.37_38delinsGA |
p.S13D |
Missense |
1/16 |
- |
2 |
2-47630367-A-C |
c.37A>C |
p.S13R |
Missense |
1/16 |
- |
1 |
2-47630367-A-G |
c.37A>G |
p.S13G |
Missense |
1/16 |
- |
1 |
2-47630368-G-A |
c.38G>A |
p.S13N |
Missense |
1/16 |
- |
1 |
2-47630368-G-C |
c.38G>C |
p.S13T |
Missense |
1/16 |
- |
1 |
2-47630368-G-T |
c.38G>T |
p.S13I |
Missense |
1/16 |
- |
1 |
2-47630369-C-A |
c.39C>A |
p.S13R |
Missense |
1/16 |
- |
1 |
2-47630369-C-G |
c.39C>G |
p.S13R |
Missense |
1/16 |
- |
1 |
2-47630370-G-A |
c.40G>A |
p.A14T |
Missense |
1/16 |
- |
2 |
2-47630370-G-C |
c.40G>C |
p.A14P |
Missense |
1/16 |
- |
1 |
2-47630370-G-T |
c.40G>T |
p.A14S |
Missense |
1/16 |
- |
1 |
2-47630371-C-A |
c.41C>A |
p.A14E |
Missense |
1/16 |
- |
1 |
2-47630371-C-G |
c.41C>G |
p.A14G |
Missense |
1/16 |
- |
1 |
2-47630371-C-T |
c.41C>T |
p.A14V |
Missense |
1/16 |
- |
1 |
2-47630373-G-T |
c.43G>T |
p.A15S |
Missense |
1/16 |
- |
2 |
2-47630373-G-A |
c.43G>A |
p.A15T |
Missense |
1/16 |
- |
1 |
2-47630373-G-C |
c.43G>C |
p.A15P |
Missense |
1/16 |
- |
1 |
2-47630373-GC-CG |
c.43_44delinsCG |
p.A15R |
Missense |
1/16 |
- |
1 |
2-47630374-C-A |
c.44C>A |
p.A15D |
Missense |
1/16 |
- |
2 |
2-47630374-C-G |
c.44C>G |
p.A15G |
Missense |
1/16 |
- |
1 |
2-47630374-C-T |
c.44C>T |
p.A15V |
Missense |
1/16 |
- |
1 |
2-47630376-G-A |
c.46G>A |
p.E16K |
Missense |
1/16 |
- |
1 |
2-47630376-G-C |
c.46G>C |
p.E16Q |
Missense |
1/16 |
- |
1 |
2-47630377-A-C |
c.47A>C |
p.E16A |
Missense |
1/16 |
- |
1 |
2-47630377-A-G |
c.47A>G |
p.E16G |
Missense |
1/16 |
- |
1 |
2-47630377-A-T |
c.47A>T |
p.E16V |
Missense |
1/16 |
- |
1 |
2-47630379-G-A |
c.49G>A |
p.V17I |
Missense |
1/16 |
- |
3 |
2-47630379-G-C |
c.49G>C |
p.V17L |
Missense |
1/16 |
- |
1 |
2-47630379-G-T |
c.49G>T |
p.V17F |
Missense |
1/16 |
- |
2 |
2-47630380-T-A |
c.50T>A |
p.V17D |
Missense |
1/16 |
- |
1 |
2-47630380-T-C |
c.50T>C |
p.V17A |
Missense |
1/16 |
- |
1 |
2-47630380-T-G |
c.50T>G |
p.V17G |
Missense |
1/16 |
- |
1 |
2-47630382-G-A |
c.52G>A |
p.G18S |
Missense |
1/16 |
- |
2 |
2-47630382-G-C |
c.52G>C |
p.G18R |
Missense |
1/16 |
- |
1 |
2-47630382-G-T |
c.52G>T |
p.G18C |
Missense |
1/16 |
- |
1 |
2-47630383-G-A |
c.53G>A |
p.G18D |
Missense |
1/16 |
- |
1 |
2-47630383-G-C |
c.53G>C |
p.G18A |
Missense |
1/16 |
- |
1 |
2-47630383-G-T |
c.53G>T |
p.G18V |
Missense |
1/16 |
- |
1 |
2-47630385-T-A |
c.55T>A |
p.F19I |
Missense |
1/16 |
- |
1 |
2-47630385-T-C |
c.55T>C |
p.F19L |
Missense |
1/16 |
- |
3 |
2-47630385-T-G |
c.55T>G |
p.F19V |
Missense |
1/16 |
- |
1 |
2-47630386-T-G |
c.56T>G |
p.F19C |
Missense |
1/16 |
- |
2 |
2-47630386-T-A |
c.56T>A |
p.F19Y |
Missense |
1/16 |
- |
1 |
2-47630386-T-C |
c.56T>C |
p.F19S |
Missense |
1/16 |
- |
1 |
2-47630387-C-A |
c.57C>A |
p.F19L |
Missense |
1/16 |
- |
2 |
2-47630387-C-G |
c.57C>G |
p.F19L |
Missense |
1/16 |
- |
2 |
2-47630388-G-A |
c.58G>A |
p.V20M |
Missense |
1/16 |
- |
2 |
2-47630388-G-C |
c.58G>C |
p.V20L |
Missense |
1/16 |
- |
1 |
2-47630388-G-T |
c.58G>T |
p.V20L |
Missense |
1/16 |
- |
1 |
2-47630389-T-A |
c.59T>A |
p.V20E |
Missense |
1/16 |
- |
1 |
2-47630389-T-C |
c.59T>C |
p.V20A |
Missense |
1/16 |
- |
1 |
2-47630389-T-G |
c.59T>G |
p.V20G |
Missense |
1/16 |
- |
1 |
2-47630391-C-A |
c.61C>A |
p.R21S |
Missense |
1/16 |
- |
1 |
2-47630391-C-G |
c.61C>G |
p.R21G |
Missense |
1/16 |
- |
1 |
2-47630391-C-T |
c.61C>T |
p.R21C |
Missense |
1/16 |
- |
1 |
2-47630392-G-A |
c.62G>A |
p.R21H |
Missense |
1/16 |
- |
1 |
2-47630392-G-C |
c.62G>C |
p.R21P |
Missense |
1/16 |
- |
1 |
2-47630392-G-T |
c.62G>T |
p.R21L |
Missense |
1/16 |
- |
1 |
2-47630394-TT-GA |
c.64_65delinsGA |
p.F22D |
Missense |
1/16 |
- |
1 |
2-47630394-T-C |
c.64T>C |
p.F22L |
Missense |
1/16 |
- |
2 |
2-47630394-T-A |
c.64T>A |
p.F22I |
Missense |
1/16 |
- |
1 |
2-47630394-T-G |
c.64T>G |
p.F22V |
Missense |
1/16 |
- |
1 |
2-47630395-T-A |
c.65T>A |
p.F22Y |
Missense |
1/16 |
- |
1 |
2-47630395-T-C |
c.65T>C |
p.F22S |
Missense |
1/16 |
- |
1 |
2-47630395-T-G |
c.65T>G |
p.F22C |
Missense |
1/16 |
- |
1 |
2-47630396-C-A |
c.66C>A |
p.F22L |
Missense |
1/16 |
- |
1 |
2-47630396-C-G |
c.66C>G |
p.F22L |
Missense |
1/16 |
- |
1 |
2-47630397-T-C |
c.67T>C |
p.F23L |
Missense |
1/16 |
- |
2 |
2-47630399-T-A |
c.69T>A |
p.F23L |
Missense |
1/16 |
- |
2 |
2-47630399-T-G |
c.69T>G |
p.F23L |
Missense |
1/16 |
- |
2 |
2-47630397-T-G |
c.67T>G |
p.F23V |
Missense |
1/16 |
- |
2 |
2-47630397-T-A |
c.67T>A |
p.F23I |
Missense |
1/16 |
- |
1 |
2-47630398-T-C |
c.68T>C |
p.F23S |
Missense |
1/16 |
- |
3 |
2-47630398-T-A |
c.68T>A |
p.F23Y |
Missense |
1/16 |
- |
1 |
2-47630398-T-G |
c.68T>G |
p.F23C |
Missense |
1/16 |
- |
1 |
2-47630400-C-A |
c.70C>A |
p.Q24K |
Missense |
1/16 |
- |
1 |
2-47630400-C-G |
c.70C>G |
p.Q24E |
Missense |
1/16 |
- |
1 |
2-47630400-C-T |
c.70C>T |
p.Q24* |
Nonsense |
1/16 |
- |
1 |
2-47630401-A-C |
c.71A>C |
p.Q24P |
Missense |
1/16 |
- |
1 |
2-47630401-A-G |
c.71A>G |
p.Q24R |
Missense |
1/16 |
- |
1 |
2-47630401-A-T |
c.71A>T |
p.Q24L |
Missense |
1/16 |
- |
1 |
2-47630401-CA-C |
c.71del |
p.Q24Rfs*40 |
Frameshift |
1/16 |
- |
2 |
2-47630402-G-C |
c.72G>C |
p.Q24H |
Missense |
1/16 |
- |
1 |
2-47630402-G-T |
c.72G>T |
p.Q24H |
Missense |
1/16 |
- |
1 |
2-47630403-G-A |
c.73G>A |
p.G25S |
Missense |
1/16 |
- |
1 |
2-47630403-G-C |
c.73G>C |
p.G25R |
Missense |
1/16 |
- |
1 |
2-47630403-G-T |
c.73G>T |
p.G25C |
Missense |
1/16 |
- |
2 |
2-47630404-G-A |
c.74G>A |
p.G25D |
Missense |
1/16 |
- |
4 |
2-47630404-G-C |
c.74G>C |
p.G25A |
Missense |
1/16 |
- |
1 |
2-47630404-G-T |
c.74G>T |
p.G25V |
Missense |
1/16 |
- |
1 |
2-47630406-A-C |
c.76A>C |
p.M26L |
Missense |
1/16 |
- |
2 |
2-47630406-A-T |
c.76A>T |
p.M26L |
Missense |
1/16 |
- |
2 |
2-47630406-A-G |
c.76A>G |
p.M26V |
Missense |
1/16 |
- |
1 |
2-47630406-CATG-C |
c.76_78del |
p.M26del |
InFrameDeletion |
1/16 |
- |
1 |
2-47630407-T-A |
c.77T>A |
p.M26K |
Missense |
1/16 |
- |
1 |
2-47630407-T-C |
c.77T>C |
p.M26T |
Missense |
1/16 |
- |
1 |
2-47630407-T-G |
c.77T>G |
p.M26R |
Missense |
1/16 |
- |
1 |
2-47630409-C-G |
c.79C>G |
p.P27A |
Missense |
1/16 |
- |
2 |
2-47630409-C-A |
c.79C>A |
p.P27T |
Missense |
1/16 |
- |
1 |
2-47630409-C-T |
c.79C>T |
p.P27S |
Missense |
1/16 |
- |
1 |
2-47630410-C-T |
c.80C>T |
p.P27L |
Missense |
1/16 |
- |
4 |
2-47630410-C-A |
c.80C>A |
p.P27Q |
Missense |
1/16 |
- |
1 |
2-47630410-C-G |
c.80C>G |
p.P27R |
Missense |
1/16 |
- |
2 |
2-47630412-G-C |
c.82G>C |
p.E28Q |
Missense |
1/16 |
- |
1 |
2-47630410-CG-C |
c.82del |
p.E28Rfs*36 |
Frameshift |
1/16 |
- |
1 |
2-47630413-A-C |
c.83A>C |
p.E28A |
Missense |
1/16 |
- |
1 |
2-47630413-A-G |
c.83A>G |
p.E28G |
Missense |
1/16 |
- |
1 |
2-47630413-A-T |
c.83A>T |
p.E28V |
Missense |
1/16 |
- |
1 |
2-47630414-G-C |
c.84G>C |
p.E28D |
Missense |
1/16 |
- |
1 |
2-47630414-G-T |
c.84G>T |
p.E28D |
Missense |
1/16 |
- |
1 |
2-47630415-A-T |
c.85A>T |
p.K29* |
Nonsense |
1/16 |
- |
1 |
2-47630415-A-C |
c.85A>C |
p.K29Q |
Missense |
1/16 |
- |
1 |
2-47630415-A-G |
c.85A>G |
p.K29E |
Missense |
1/16 |
- |
1 |
2-47630416-A-G |
c.86A>G |
p.K29R |
Missense |
1/16 |
- |
2 |
2-47630416-A-C |
c.86A>C |
p.K29T |
Missense |
1/16 |
- |
1 |
2-47630416-A-T |
c.86A>T |
p.K29M |
Missense |
1/16 |
- |
1 |
2-47630417-G-C |
c.87G>C |
p.K29N |
Missense |
1/16 |
- |
1 |
2-47630417-G-T |
c.87G>T |
p.K29N |
Missense |
1/16 |
- |
1 |
2-47630418-C-T |
c.88C>T |
p.P30S |
Missense |
1/16 |
- |
2 |
2-47630418-C-A |
c.88C>A |
p.P30T |
Missense |
1/16 |
- |
1 |
2-47630418-C-G |
c.88C>G |
p.P30A |
Missense |
1/16 |
- |
1 |
2-47630419-C-G |
c.89C>G |
p.P30R |
Missense |
1/16 |
- |
1 |
2-47630419-C-T |
c.89C>T |
p.P30L |
Missense |
1/16 |
- |
1 |
2-47630421-A-C |
c.91A>C |
p.T31P |
Missense |
1/16 |
- |
1 |
2-47630421-A-G |
c.91A>G |
p.T31A |
Missense |
1/16 |
- |
1 |
2-47630421-A-T |
c.91A>T |
p.T31S |
Missense |
1/16 |
- |
1 |
2-47630422-C-T |
c.92C>T |
p.T31I |
Missense |
1/16 |
- |
2 |
2-47630422-C-A |
c.92C>A |
p.T31N |
Missense |
1/16 |
- |
2 |
2-47630422-C-G |
c.92C>G |
p.T31S |
Missense |
1/16 |
- |
1 |
2-47630423-C-T |
c.93C>T |
p.T31= |
Synonymous |
1/16 |
- |
1 |
2-47630424-A-C |
c.94A>C |
p.T32P |
Missense |
1/16 |
- |
1 |
2-47630424-A-G |
c.94A>G |
p.T32A |
Missense |
1/16 |
- |
1 |
2-47630425-C-G |
c.95C>G |
p.T32S |
Missense |
1/16 |
- |
2 |
2-47630424-A-T |
c.94A>T |
p.T32S |
Missense |
1/16 |
- |
2 |
2-47630425-C-A |
c.95C>A |
p.T32N |
Missense |
1/16 |
- |
1 |
2-47630425-C-T |
c.95C>T |
p.T32I |
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 |
- |
6 |
2-47630427-A-G |
c.97A>G |
p.T33A |
Missense |
1/16 |
- |
1 |
2-47630427-A-T |
c.97A>T |
p.T33S |
Missense |
1/16 |
- |
1 |
2-47630428-C-A |
c.98C>A |
p.T33K |
Missense |
1/16 |
- |
1 |
2-47630428-C-G |
c.98C>G |
p.T33R |
Missense |
1/16 |
- |
1 |
2-47630428-C-T |
c.98C>T |
p.T33I |
Missense |
1/16 |
- |
1 |
2-47630430-G-A |
c.100G>A |
p.V34M |
Missense |
1/16 |
- |
2 |
2-47630430-GTG-ATC |
c.100_102delinsATC |
p.V34I |
Missense |
1/16 |
- |
1 |
2-47630430-G-C |
c.100G>C |
p.V34L |
Missense |
1/16 |
- |
1 |
2-47630430-G-T |
c.100G>T |
p.V34L |
Missense |
1/16 |
- |
1 |
2-47630431-T-A |
c.101T>A |
p.V34E |
Missense |
1/16 |
- |
3 |
2-47630431-T-C |
c.101T>C |
p.V34A |
Missense |
1/16 |
- |
2 |
2-47630431-T-G |
c.101T>G |
p.V34G |
Missense |
1/16 |
- |
1 |
2-47630433-C-G |
c.103C>G |
p.R35G |
Missense |
1/16 |
- |
3 |
2-47630433-C-A |
c.103C>A |
p.R35S |
Missense |
1/16 |
- |
1 |
2-47630433-C-T |
c.103C>T |
p.R35C |
Missense |
1/16 |
- |
1 |
2-47630434-G-C |
c.104G>C |
p.R35P |
Missense |
1/16 |
- |
1 |
2-47630434-G-T |
c.104G>T |
p.R35L |
Missense |
1/16 |
- |
1 |
2-47630435-C-A |
c.105C>A |
p.R35= |
Synonymous |
1/16 |
- |
1 |
2-47630436-CT-GG |
c.106_107delinsGG |
p.L36G |
Missense |
1/16 |
- |
1 |
2-47630436-C-A |
c.106C>A |
p.L36I |
Missense |
1/16 |
- |
1 |
2-47630436-C-G |
c.106C>G |
p.L36V |
Missense |
1/16 |
- |
1 |
2-47630436-C-T |
c.106C>T |
p.L36F |
Missense |
1/16 |
- |
1 |
2-47630437-T-A |
c.107T>A |
p.L36H |
Missense |
1/16 |
- |
1 |
2-47630437-T-C |
c.107T>C |
p.L36P |
Missense |
1/16 |
- |
1 |
2-47630437-T-G |
c.107T>G |
p.L36R |
Missense |
1/16 |
- |
1 |
2-47630439-T-C |
c.109T>C |
p.F37L |
Missense |
1/16 |
- |
2 |
2-47630441-C-A |
c.111C>A |
p.F37L |
Missense |
1/16 |
- |
2 |
2-47630439-T-A |
c.109T>A |
p.F37I |
Missense |
1/16 |
- |
1 |
2-47630439-T-G |
c.109T>G |
p.F37V |
Missense |
1/16 |
- |
1 |
2-47630436-CT-C |
c.110del |
p.F37Sfs*27 |
Frameshift |
1/16 |
- |
3 |
2-47630440-T-A |
c.110T>A |
p.F37Y |
Missense |
1/16 |
- |
1 |
2-47630440-T-C |
c.110T>C |
p.F37S |
Missense |
1/16 |
- |
1 |
2-47630440-T-G |
c.110T>G |
p.F37C |
Missense |
1/16 |
- |
1 |
2-47630441-C-G |
c.111C>G |
p.F37L |
Missense |
1/16 |
- |
3 |
2-47630442-G-A |
c.112G>A |
p.D38N |
Missense |
1/16 |
- |
1 |
2-47630442-G-C |
c.112G>C |
p.D38H |
Missense |
1/16 |
- |
1 |
2-47630442-G-T |
c.112G>T |
p.D38Y |
Missense |
1/16 |
- |
1 |
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 |
- |
2 |
2-47630443-A-G |
c.113A>G |
p.D38G |
Missense |
1/16 |
- |
1 |
2-47630443-A-T |
c.113A>T |
p.D38V |
Missense |
1/16 |
- |
1 |
2-47630444-C-A |
c.114C>A |
p.D38E |
Missense |
1/16 |
- |
1 |
2-47630444-C-G |
c.114C>G |
p.D38E |
Missense |
1/16 |
- |
1 |
2-47630445-CGG-AGC |
c.115_117delinsAGC |
p.R39S |
Missense |
1/16 |
- |
1 |
2-47630445-C-G |
c.115C>G |
p.R39G |
Missense |
1/16 |
- |
1 |
2-47630445-CG-GA |
c.115_116delinsGA |
p.R39E |
Missense |
1/16 |
- |
1 |
2-47630446-G-T |
c.116G>T |
p.R39L |
Missense |
1/16 |
- |
2 |
2-47630446-G-A |
c.116G>A |
p.R39Q |
Missense |
1/16 |
- |
1 |
2-47630446-G-C |
c.116G>C |
p.R39P |
Missense |
1/16 |
- |
1 |
2-47630448-G-A |
c.118G>A |
p.G40S |
Missense |
1/16 |
- |
8 |
2-47630448-G-C |
c.118G>C |
p.G40R |
Missense |
1/16 |
- |
1 |
2-47630448-G-T |
c.118G>T |
p.G40C |
Missense |
1/16 |
- |
1 |
2-47630449-G-A |
c.119G>A |
p.G40D |
Missense |
1/16 |
- |
1 |
2-47630449-G-C |
c.119G>C |
p.G40A |
Missense |
1/16 |
- |
2 |
2-47630449-G-T |
c.119G>T |
p.G40V |
Missense |
1/16 |
- |
1 |
2-47630445-CG-C |
c.119del |
p.G40Afs*24 |
Frameshift |
1/16 |
- |
2 |
2-47630450-C-T |
c.120C>T |
p.G40= |
Synonymous |
1/16 |
- |
1 |
2-47630451-G-C |
c.121G>C |
p.D41H |
Missense |
1/16 |
- |
2 |
2-47630451-G-A |
c.121G>A |
p.D41N |
Missense |
1/16 |
- |
1 |
2-47630451-G-T |
c.121G>T |
p.D41Y |
Missense |
1/16 |
- |
1 |
2-47630452-A-C |
c.122A>C |
p.D41A |
Missense |
1/16 |
- |
1 |
2-47630452-A-G |
c.122A>G |
p.D41G |
Missense |
1/16 |
- |
2 |
2-47630452-A-T |
c.122A>T |
p.D41V |
Missense |
1/16 |
- |
1 |
2-47630453-C-A |
c.123C>A |
p.D41E |
Missense |
1/16 |
- |
1 |
2-47630453-C-G |
c.123C>G |
p.D41E |
Missense |
1/16 |
- |
1 |
2-47630454-T-A |
c.124T>A |
p.F42I |
Missense |
1/16 |
- |
1 |
2-47630454-T-C |
c.124T>C |
p.F42L |
Missense |
1/16 |
- |
2 |
2-47630454-T-G |
c.124T>G |
p.F42V |
Missense |
1/16 |
- |
1 |
2-47630455-T-A |
c.125T>A |
p.F42Y |
Missense |
1/16 |
- |
1 |
2-47630455-T-C |
c.125T>C |
p.F42S |
Missense |
1/16 |
- |
1 |
2-47630455-T-G |
c.125T>G |
p.F42C |
Missense |
1/16 |
- |
1 |
2-47630456-C-A |
c.126C>A |
p.F42L |
Missense |
1/16 |
- |
2 |
2-47630456-C-G |
c.126C>G |
p.F42L |
Missense |
1/16 |
- |
2 |
2-47630457-T-A |
c.127T>A |
p.Y43N |
Missense |
1/16 |
- |
1 |
2-47630457-T-C |
c.127T>C |
p.Y43H |
Missense |
1/16 |
- |
1 |
2-47630457-T-G |
c.127T>G |
p.Y43D |
Missense |
1/16 |
- |
1 |
2-47630458-A-G |
c.128A>G |
p.Y43C |
Missense |
1/16 |
- |
5 |
2-47630458-A-T |
c.128A>T |
p.Y43F |
Missense |
1/16 |
- |
2 |
2-47630458-A-C |
c.128A>C |
p.Y43S |
Missense |
1/16 |
- |
1 |
2-47630459-T-A |
c.129T>A |
p.Y43* |
Nonsense |
1/16 |
- |
1 |
2-47630459-T-G |
c.129T>G |
p.Y43* |
Nonsense |
1/16 |
- |
1 |
2-47630460-A-C |
c.130A>C |
p.T44P |
Missense |
1/16 |
- |
1 |
2-47630460-A-G |
c.130A>G |
p.T44A |
Missense |
1/16 |
- |
1 |
2-47630460-A-T |
c.130A>T |
p.T44S |
Missense |
1/16 |
- |
1 |
2-47630461-C-A |
c.131C>A |
p.T44K |
Missense |
1/16 |
- |
2 |
2-47630461-C-T |
c.131C>T |
p.T44M |
Missense |
1/16 |
- |
4 |
2-47630461-C-G |
c.131C>G |
p.T44R |
Missense |
1/16 |
- |
1 |
2-47630463-G-A |
c.133G>A |
p.A45T |
Missense |
1/16 |
- |
1 |
2-47630463-G-C |
c.133G>C |
p.A45P |
Missense |
1/16 |
- |
1 |
2-47630463-G-T |
c.133G>T |
p.A45S |
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 |
- |
3 |
2-47630464-C-G |
c.134C>G |
p.A45G |
Missense |
1/16 |
- |
2 |
2-47630464-C-A |
c.134C>A |
p.A45E |
Missense |
1/16 |
- |
1 |
2-47630466-C-A |
c.136C>A |
p.H46N |
Missense |
1/16 |
- |
1 |
2-47630466-C-G |
c.136C>G |
p.H46D |
Missense |
1/16 |
- |
1 |
2-47630466-C-T |
c.136C>T |
p.H46Y |
Missense |
1/16 |
- |
1 |
2-47630463-GCGCACGGCGAGGACGCGCTGCTGGCCGCC-G |
c.136_164del |
p.H46Gfs*26 |
Frameshift |
1/16 |
- |
2 |
2-47630467-A-C |
c.137A>C |
p.H46P |
Missense |
1/16 |
- |
1 |
2-47630467-A-G |
c.137A>G |
p.H46R |
Missense |
1/16 |
- |
1 |
2-47630467-A-T |
c.137A>T |
p.H46L |
Missense |
1/16 |
- |
1 |
2-47630468-C-G |
c.138C>G |
p.H46Q |
Missense |
1/16 |
- |
8 |
2-47630468-C-A |
c.138C>A |
p.H46Q |
Missense |
1/16 |
- |
2 |
2-47630468-C-T |
c.138C>T |
p.H46= |
Synonymous |
1/16 |
- |
2 |
2-47630469-G-A |
c.139G>A |
p.G47S |
Missense |
1/16 |
- |
1 |
2-47630469-G-C |
c.139G>C |
p.G47R |
Missense |
1/16 |
- |
1 |
2-47630469-G-T |
c.139G>T |
p.G47C |
Missense |
1/16 |
- |
1 |
2-47630470-G-C |
c.140G>C |
p.G47A |
Missense |
1/16 |
- |
1 |
2-47630470-G-T |
c.140G>T |
p.G47V |
Missense |
1/16 |
- |
1 |
2-47630472-G-A |
c.142G>A |
p.E48K |
Missense |
1/16 |
- |
3 |
2-47630472-G-T |
c.142G>T |
p.E48* |
Nonsense |
1/16 |
- |
5 |
2-47630472-G-C |
c.142G>C |
p.E48Q |
Missense |
1/16 |
- |
1 |
2-47630473-A-C |
c.143A>C |
p.E48A |
Missense |
1/16 |
- |
2 |
2-47630473-A-G |
c.143A>G |
p.E48G |
Missense |
1/16 |
- |
1 |
2-47630473-A-T |
c.143A>T |
p.E48V |
Missense |
1/16 |
- |
1 |
2-47630474-G-C |
c.144G>C |
p.E48D |
Missense |
1/16 |
- |
1 |
2-47630474-G-T |
c.144G>T |
p.E48D |
Missense |
1/16 |
- |
1 |
2-47630473-AGGAC-A |
c.145_148del |
p.D49Rfs*14 |
Frameshift |
1/16 |
- |
1 |
2-47630475-G-A |
c.145G>A |
p.D49N |
Missense |
1/16 |
- |
1 |
2-47630475-G-C |
c.145G>C |
p.D49H |
Missense |
1/16 |
- |
1 |
2-47630476-A-C |
c.146A>C |
p.D49A |
Missense |
1/16 |
- |
1 |
2-47630476-A-G |
c.146A>G |
p.D49G |
Missense |
1/16 |
- |
1 |
2-47630476-A-T |
c.146A>T |
p.D49V |
Missense |
1/16 |
- |
3 |
2-47630477-C-A |
c.147C>A |
p.D49E |
Missense |
1/16 |
- |
1 |
2-47630477-C-G |
c.147C>G |
p.D49E |
Missense |
1/16 |
- |
1 |
2-47630478-GCG-TGT |
c.148_150delinsTGT |
p.A50C |
Missense |
1/16 |
- |
1 |
2-47630478-G-A |
c.148G>A |
p.A50T |
Missense |
1/16 |
- |
1 |
2-47630478-G-C |
c.148G>C |
p.A50P |
Missense |
1/16 |
- |
1 |
2-47630478-G-T |
c.148G>T |
p.A50S |
Missense |
1/16 |
- |
1 |
2-47630479-C-A |
c.149C>A |
p.A50E |
Missense |
1/16 |
- |
1 |
2-47630479-C-G |
c.149C>G |
p.A50G |
Missense |
1/16 |
- |
1 |
2-47630479-C-T |
c.149C>T |
p.A50V |
Missense |
1/16 |
- |
1 |
2-47630481-C-A |
c.151C>A |
p.L51M |
Missense |
1/16 |
- |
1 |
2-47630481-C-G |
c.151C>G |
p.L51V |
Missense |
1/16 |
- |
1 |
2-47630482-T-C |
c.152T>C |
p.L51P |
Missense |
1/16 |
- |
2 |
2-47630482-T-A |
c.152T>A |
p.L51Q |
Missense |
1/16 |
- |
1 |
2-47630482-T-G |
c.152T>G |
p.L51R |
Missense |
1/16 |
- |
1 |
2-47630483-G-GTAAA |
c.153_154insTAAA |
p.L52* |
Nonsense |
1/16 |
- |
1 |
2-47630484-C-A |
c.154C>A |
p.L52M |
Missense |
1/16 |
- |
1 |
2-47630484-C-G |
c.154C>G |
p.L52V |
Missense |
1/16 |
- |
1 |
2-47630482-TGCTG-T |
c.155_158del |
p.L52Pfs*11 |
Frameshift |
1/16 |
- |
1 |
2-47630485-T-A |
c.155T>A |
p.L52Q |
Missense |
1/16 |
- |
1 |
2-47630485-T-C |
c.155T>C |
p.L52P |
Missense |
1/16 |
- |
1 |
2-47630485-T-G |
c.155T>G |
p.L52R |
Missense |
1/16 |
- |
1 |
2-47630487-G-A |
c.157G>A |
p.A53T |
Missense |
1/16 |
- |
2 |
2-47630487-G-C |
c.157G>C |
p.A53P |
Missense |
1/16 |
- |
1 |
2-47630487-G-T |
c.157G>T |
p.A53S |
Missense |
1/16 |
- |
1 |
2-47630488-C-A |
c.158C>A |
p.A53D |
Missense |
1/16 |
- |
1 |
2-47630488-C-G |
c.158C>G |
p.A53G |
Missense |
1/16 |
- |
1 |
2-47630488-C-T |
c.158C>T |
p.A53V |
Missense |
1/16 |
- |
1 |
2-47630490-GC-TG |
c.160_161delinsTG |
p.A54C |
Missense |
1/16 |
- |
1 |
2-47630490-GC-TT |
c.160_161delinsTT |
p.A54F |
Missense |
1/16 |
- |
2 |
2-47630490-G-A |
c.160G>A |
p.A54T |
Missense |
1/16 |
- |
1 |
2-47630490-G-C |
c.160G>C |
p.A54P |
Missense |
1/16 |
- |
1 |
2-47630490-G-T |
c.160G>T |
p.A54S |
Missense |
1/16 |
- |
1 |
2-47630490-GC-TA |
c.160_161delinsTA |
p.A54Y |
Missense |
1/16 |
- |
1 |
2-47630491-C-G |
c.161C>G |
p.A54G |
Missense |
1/16 |
- |
1 |
2-47630491-C-T |
c.161C>T |
p.A54V |
Missense |
1/16 |
- |
1 |
2-47630493-CGG-GAC |
c.163_165delinsGAC |
p.R55D |
Missense |
1/16 |
- |
1 |
2-47630493-C-G |
c.163C>G |
p.R55G |
Missense |
1/16 |
- |
3 |
2-47630493-C-T |
c.163C>T |
p.R55W |
Missense |
1/16 |
- |
1 |
2-47630490-GC-G |
c.163del |
p.R55Gfs*9 |
Frameshift |
1/16 |
- |
2 |
2-47630494-G-A |
c.164G>A |
p.R55Q |
Missense |
1/16 |
- |
1 |
2-47630494-G-C |
c.164G>C |
p.R55P |
Missense |
1/16 |
- |
1 |
2-47630494-G-T |
c.164G>T |
p.R55L |
Missense |
1/16 |
- |
1 |
2-47630496-G-T |
c.166G>T |
p.E56* |
Nonsense |
1/16 |
- |
5 |
2-47630496-G-A |
c.166G>A |
p.E56K |
Missense |
1/16 |
- |
2 |
2-47630496-G-C |
c.166G>C |
p.E56Q |
Missense |
1/16 |
- |
1 |
2-47630497-A-G |
c.167A>G |
p.E56G |
Missense |
1/16 |
- |
2 |
2-47630497-A-C |
c.167A>C |
p.E56A |
Missense |
1/16 |
- |
1 |
2-47630497-A-T |
c.167A>T |
p.E56V |
Missense |
1/16 |
- |
1 |
2-47630498-G-C |
c.168G>C |
p.E56D |
Missense |
1/16 |
- |
1 |
2-47630498-G-T |
c.168G>T |
p.E56D |
Missense |
1/16 |
- |
1 |
2-47630499-G-A |
c.169G>A |
p.V57M |
Missense |
1/16 |
- |
2 |
2-47630499-G-C |
c.169G>C |
p.V57L |
Missense |
1/16 |
- |
1 |
2-47630499-G-T |
c.169G>T |
p.V57L |
Missense |
1/16 |
- |
1 |
2-47630500-T-A |
c.170T>A |
p.V57E |
Missense |
1/16 |
- |
1 |
2-47630500-T-C |
c.170T>C |
p.V57A |
Missense |
1/16 |
- |
1 |
2-47630500-T-G |
c.170T>G |
p.V57G |
Missense |
1/16 |
- |
1 |
2-47630502-T-A |
c.172T>A |
p.F58I |
Missense |
1/16 |
- |
2 |
2-47630502-T-C |
c.172T>C |
p.F58L |
Missense |
1/16 |
- |
2 |
2-47630502-T-G |
c.172T>G |
p.F58V |
Missense |
1/16 |
- |
1 |
2-47630503-T-C |
c.173T>C |
p.F58S |
Missense |
1/16 |
- |
1 |
2-47630504-C-A |
c.174C>A |
p.F58L |
Missense |
1/16 |
- |
2 |
2-47630504-C-G |
c.174C>G |
p.F58L |
Missense |
1/16 |
- |
2 |
2-47630503-T-TC |
c.174dup |
p.K59Qfs*23 |
Frameshift |
1/16 |
- |
3 |
2-47630505-A-C |
c.175A>C |
p.K59Q |
Missense |
1/16 |
- |
1 |
2-47630505-A-G |
c.175A>G |
p.K59E |
Missense |
1/16 |
- |
1 |
2-47630504-C-CA |
c.176dup |
p.T60Dfs*22 |
Frameshift |
1/16 |
- |
1 |
2-47630506-A-C |
c.176A>C |
p.K59T |
Missense |
1/16 |
- |
1 |
2-47630506-A-G |
c.176A>G |
p.K59R |
Missense |
1/16 |
- |
1 |
2-47630506-A-T |
c.176A>T |
p.K59M |
Missense |
1/16 |
- |
1 |
2-47630504-CA-C |
c.176del |
p.K59Rfs*5 |
Frameshift |
1/16 |
- |
1 |
2-47630507-G-C |
c.177G>C |
p.K59N |
Missense |
1/16 |
- |
1 |
2-47630507-G-T |
c.177G>T |
p.K59N |
Missense |
1/16 |
- |
1 |
2-47630508-A-C |
c.178A>C |
p.T60P |
Missense |
1/16 |
- |
1 |
2-47630508-A-G |
c.178A>G |
p.T60A |
Missense |
1/16 |
- |
1 |
2-47630508-A-T |
c.178A>T |
p.T60S |
Missense |
1/16 |
- |
1 |
2-47630509-C-G |
c.179C>G |
p.T60S |
Missense |
1/16 |
- |
1 |
2-47630509-C-A |
c.179C>A |
p.T60N |
Missense |
1/16 |
- |
1 |
2-47630509-C-T |
c.179C>T |
p.T60I |
Missense |
1/16 |
- |
1 |
2-47630511-C-T |
c.181C>T |
p.Q61* |
Nonsense |
1/16 |
- |
7 |
2-47630511-C-A |
c.181C>A |
p.Q61K |
Missense |
1/16 |
- |
3 |
2-47630511-C-G |
c.181C>G |
p.Q61E |
Missense |
1/16 |
- |
1 |
2-47630512-A-C |
c.182A>C |
p.Q61P |
Missense |
1/16 |
- |
6 |
2-47630512-A-G |
c.182A>G |
p.Q61R |
Missense |
1/16 |
- |
2 |
2-47630512-A-T |
c.182A>T |
p.Q61L |
Missense |
1/16 |
- |
1 |
2-47630513-G-C |
c.183G>C |
p.Q61H |
Missense |
1/16 |
- |
1 |
2-47630513-G-T |
c.183G>T |
p.Q61H |
Missense |
1/16 |
- |
1 |
2-47630514-G-C |
c.184G>C |
p.G62R |
Missense |
1/16 |
- |
2 |
2-47630514-G-A |
c.184G>A |
p.G62R |
Missense |
1/16 |
- |
1 |
2-47630515-G-A |
c.185G>A |
p.G62E |
Missense |
1/16 |
- |
1 |
2-47630515-G-C |
c.185G>C |
p.G62A |
Missense |
1/16 |
- |
1 |
2-47630515-G-T |
c.185G>T |
p.G62V |
Missense |
1/16 |
- |
1 |
2-47630516-G-GTAA |
c.186_187insTAA |
p.G62_V63ins* |
InFrameInsertion |
1/16 |
- |
1 |
2-47630516-G-C |
c.186G>C |
p.G62= |
Synonymous |
1/16 |
- |
1 |
2-47630516-G-GTA |
c.186_187insTA |
p.V63* |
Nonsense |
1/16 |
- |
1 |
2-47630512-AG-A |
c.187del |
p.V63* |
Frameshift |
1/16 |
- |
8 |
2-47630517-G-A |
c.187G>A |
p.V63M |
Missense |
1/16 |
- |
2 |
2-47630517-G-C |
c.187G>C |
p.V63L |
Missense |
1/16 |
- |
1 |
2-47630517-G-T |
c.187G>T |
p.V63L |
Missense |
1/16 |
- |
1 |
2-47630517-GTG-TTT |
c.187_189delinsTTT |
p.V63F |
Missense |
1/16 |
- |
1 |
2-47630518-T-C |
c.188T>C |
p.V63A |
Missense |
1/16 |
- |
1 |
2-47630518-T-G |
c.188T>G |
p.V63G |
Missense |
1/16 |
- |
1 |
2-47630518-T-A |
c.188T>A |
p.V63E |
Missense |
1/16 |
- |
1 |
2-47630519-TG-T |
c.189del |
p.I64Sfs*20 |
Frameshift |
1/16 |
- |
1 |
2-47630520-GA-G |
c.190del |
p.I64Sfs*20 |
Frameshift |
1/16 |
- |
1 |
2-47630520-A-C |
c.190A>C |
p.I64L |
Missense |
1/16 |
- |
1 |
2-47630520-A-G |
c.190A>G |
p.I64V |
Missense |
1/16 |
- |
2 |
2-47630520-A-T |
c.190A>T |
p.I64F |
Missense |
1/16 |
- |
1 |
2-47630521-T-A |
c.191T>A |
p.I64N |
Missense |
1/16 |
- |
1 |
2-47630521-T-C |
c.191T>C |
p.I64T |
Missense |
1/16 |
- |
1 |
2-47630521-T-G |
c.191T>G |
p.I64S |
Missense |
1/16 |
- |
1 |
2-47630522-C-G |
c.192C>G |
p.I64M |
Missense |
1/16 |
- |
1 |
2-47630521-T-TC |
c.192dup |
p.K65Qfs*17 |
Frameshift |
1/16 |
- |
1 |
2-47630523-A-T |
c.193A>T |
p.K65* |
Nonsense |
1/16 |
- |
1 |
2-47630523-AA-GC |
c.193_194delinsGC |
p.K65A |
Missense |
1/16 |
- |
1 |
2-47630523-A-C |
c.193A>C |
p.K65Q |
Missense |
1/16 |
- |
1 |
2-47630523-A-G |
c.193A>G |
p.K65E |
Missense |
1/16 |
- |
1 |
2-47630524-A-C |
c.194A>C |
p.K65T |
Missense |
1/16 |
- |
1 |
2-47630524-A-G |
c.194A>G |
p.K65R |
Missense |
1/16 |
- |
1 |
2-47630524-A-T |
c.194A>T |
p.K65M |
Missense |
1/16 |
- |
1 |
2-47630526-GT-G |
c.196del |
p.Y66Tfs*18 |
Frameshift |
1/16 |
- |
1 |
2-47630526-TA-GC |
c.196_197delinsGC |
p.Y66A |
Missense |
1/16 |
- |
1 |
2-47630526-T-A |
c.196T>A |
p.Y66N |
Missense |
1/16 |
- |
1 |
2-47630526-T-C |
c.196T>C |
p.Y66H |
Missense |
1/16 |
- |
1 |
2-47630527-A-C |
c.197A>C |
p.Y66S |
Missense |
1/16 |
- |
1 |
2-47630527-A-G |
c.197A>G |
p.Y66C |
Missense |
1/16 |
- |
1 |
2-47630527-A-T |
c.197A>T |
p.Y66F |
Missense |
1/16 |
- |
1 |
2-47630528-C-T |
c.198C>T |
p.Y66= |
Synonymous |
1/16 |
- |
1 |
2-47630529-A-G |
c.199A>G |
p.M67V |
Missense |
1/16 |
- |
3 |
2-47630529-A-C |
c.199A>C |
p.M67L |
Missense |
1/16 |
- |
1 |
2-47630529-A-T |
c.199A>T |
p.M67L |
Missense |
1/16 |
- |
1 |
2-47630530-T-A |
c.200T>A |
p.M67K |
Missense |
1/16 |
- |
1 |
2-47630530-T-C |
c.200T>C |
p.M67T |
Missense |
1/16 |
- |
1 |
2-47630530-T-G |
c.200T>G |
p.M67R |
Missense |
1/16 |
- |
1 |
2-47630531-G-A |
c.201G>A |
p.M67I |
Missense |
1/16 |
- |
1 |
2-47630531-G-C |
c.201G>C |
p.M67I |
Missense |
1/16 |
- |
1 |
2-47630531-G-T |
c.201G>T |
p.M67I |
Missense |
1/16 |
- |
1 |
2-47630532-G-A |
c.202G>A |
p.G68R |
Missense |
1/16 |
- |
1 |
2-47630532-G-C |
c.202G>C |
p.G68R |
Missense |
1/16 |
- |
1 |
2-47630532-G-T |
c.202G>T |
p.G68W |
Missense |
1/16 |
- |
1 |
2-47630533-G-A |
c.203G>A |
p.G68E |
Missense |
1/16 |
- |
1 |
2-47630533-G-C |
c.203G>C |
p.G68A |
Missense |
1/16 |
- |
1 |
2-47630533-G-T |
c.203G>T |
p.G68V |
Missense |
1/16 |
- |
1 |
2-47630535-C-A |
c.205C>A |
p.P69T |
Missense |
1/16 |
- |
1 |
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 |
2-47630536-C-A |
c.206C>A |
p.P69Q |
Missense |
1/16 |
- |
1 |
2-47630536-C-G |
c.206C>G |
p.P69R |
Missense |
1/16 |
- |
1 |
2-47630536-C-T |
c.206C>T |
p.P69L |
Missense |
1/16 |
- |
1 |
2-47630538-GCA-TTT |
c.208_210delinsTTT |
p.A70F |
Missense |
1/16 |
- |
1 |
2-47630538-G-A |
c.208G>A |
p.A70T |
Missense |
1/16 |
- |
1 |
2-47630538-G-C |
c.208G>C |
p.A70P |
Missense |
1/16 |
- |
1 |
2-47630538-G-T |
c.208G>T |
p.A70S |
Missense |
1/16 |
- |
1 |
2-47630539-C-A |
c.209C>A |
p.A70E |
Missense |
1/16 |
- |
1 |
2-47630539-C-G |
c.209C>G |
p.A70G |
Missense |
1/16 |
- |
1 |
2-47630539-C-T |
c.209C>T |
p.A70V |
Missense |
1/16 |
- |
1 |
2-47630531-GGGGCCGGCAGGTGA-G |
c.209_211+11del |
- |
SpliceDonorDeletion |
1/16 |
1/15 |
1 |
2-47630542-G-T |
c.211+1G>T |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47630542-G-C |
c.211+1G>C |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47630550-C-G |
c.211+9C>G |
- |
IntronicSNV |
- |
1/15 |
15 |
2-47630550-C-A |
c.211+9C>A |
- |
IntronicSNV |
- |
1/15 |
9 |
2-47630550-C-T |
c.211+9C>T |
- |
IntronicSNV |
- |
1/15 |
8 |
2-47630639-T-C |
c.211+98T>C |
- |
IntronicSNV |
- |
1/15 |
2 |
2-47631091-G-C |
c.211+550G>C |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47635538-A-G |
c.212-2A>G |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47635539-G-A |
c.212-1G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47635542-G-A |
c.214G>A |
p.A72T |
Missense |
2/16 |
- |
2 |
2-47635542-G-C |
c.214G>C |
p.A72P |
Missense |
2/16 |
- |
1 |
2-47635542-G-T |
c.214G>T |
p.A72S |
Missense |
2/16 |
- |
1 |
2-47635543-CA-AC |
c.215_216delinsAC |
p.A72D |
Missense |
2/16 |
- |
1 |
2-47635543-C-A |
c.215C>A |
p.A72E |
Missense |
2/16 |
- |
1 |
2-47635543-C-G |
c.215C>G |
p.A72G |
Missense |
2/16 |
- |
1 |
2-47635543-C-T |
c.215C>T |
p.A72V |
Missense |
2/16 |
- |
2 |
2-47635545-A-C |
c.217A>C |
p.K73Q |
Missense |
2/16 |
- |
2 |
2-47635545-A-G |
c.217A>G |
p.K73E |
Missense |
2/16 |
- |
1 |
2-47635546-A-C |
c.218A>C |
p.K73T |
Missense |
2/16 |
- |
1 |
2-47635546-A-G |
c.218A>G |
p.K73R |
Missense |
2/16 |
- |
2 |
2-47635546-A-T |
c.218A>T |
p.K73M |
Missense |
2/16 |
- |
1 |
2-47635547-G-C |
c.219G>C |
p.K73N |
Missense |
2/16 |
- |
1 |
2-47635547-G-T |
c.219G>T |
p.K73N |
Missense |
2/16 |
- |
1 |
2-47635548-A-C |
c.220A>C |
p.N74H |
Missense |
2/16 |
- |
1 |
2-47635548-A-G |
c.220A>G |
p.N74D |
Missense |
2/16 |
- |
1 |
2-47635548-A-T |
c.220A>T |
p.N74Y |
Missense |
2/16 |
- |
1 |
2-47635549-A-C |
c.221A>C |
p.N74T |
Missense |
2/16 |
- |
1 |
2-47635549-A-G |
c.221A>G |
p.N74S |
Missense |
2/16 |
- |
1 |
2-47635549-A-T |
c.221A>T |
p.N74I |
Missense |
2/16 |
- |
1 |
2-47635550-T-A |
c.222T>A |
p.N74K |
Missense |
2/16 |
- |
1 |
2-47635550-T-G |
c.222T>G |
p.N74K |
Missense |
2/16 |
- |
1 |
2-47635551-C-G |
c.223C>G |
p.L75V |
Missense |
2/16 |
- |
1 |
2-47635551-CT-AA |
c.223_224delinsAA |
p.L75K |
Missense |
2/16 |
- |
1 |
2-47635549-ATC-A |
c.223_224del |
p.L75Afs*6 |
Frameshift |
2/16 |
- |
1 |
2-47635552-T-A |
c.224T>A |
p.L75Q |
Missense |
2/16 |
- |
1 |
2-47635552-T-C |
c.224T>C |
p.L75P |
Missense |
2/16 |
- |
1 |
2-47635552-T-G |
c.224T>G |
p.L75R |
Missense |
2/16 |
- |
1 |
2-47635554-C-T |
c.226C>T |
p.Q76* |
Nonsense |
2/16 |
- |
5 |
2-47635554-C-A |
c.226C>A |
p.Q76K |
Missense |
2/16 |
- |
1 |
2-47635555-A-C |
c.227A>C |
p.Q76P |
Missense |
2/16 |
- |
1 |
2-47635555-A-G |
c.227A>G |
p.Q76R |
Missense |
2/16 |
- |
1 |
2-47635555-A-T |
c.227A>T |
p.Q76L |
Missense |
2/16 |
- |
1 |
2-47635556-G-C |
c.228G>C |
p.Q76H |
Missense |
2/16 |
- |
2 |
2-47635556-G-T |
c.228G>T |
p.Q76H |
Missense |
2/16 |
- |
2 |
2-47635554-CAG-C |
c.229_230del |
p.S77Cfs*4 |
Frameshift |
2/16 |
- |
6 |
2-47635557-A-C |
c.229A>C |
p.S77R |
Missense |
2/16 |
- |
1 |
2-47635557-A-G |
c.229A>G |
p.S77G |
Missense |
2/16 |
- |
1 |
2-47635557-A-T |
c.229A>T |
p.S77C |
Missense |
2/16 |
- |
1 |
2-47635558-G-A |
c.230G>A |
p.S77N |
Missense |
2/16 |
- |
1 |
2-47635558-G-C |
c.230G>C |
p.S77T |
Missense |
2/16 |
- |
1 |
2-47635558-G-T |
c.230G>T |
p.S77I |
Missense |
2/16 |
- |
1 |
2-47635559-T-A |
c.231T>A |
p.S77R |
Missense |
2/16 |
- |
1 |
2-47635559-T-G |
c.231T>G |
p.S77R |
Missense |
2/16 |
- |
1 |
2-47635560-G-A |
c.232G>A |
p.V78I |
Missense |
2/16 |
- |
5 |
2-47635560-G-C |
c.232G>C |
p.V78L |
Missense |
2/16 |
- |
1 |
2-47635561-T-C |
c.233T>C |
p.V78A |
Missense |
2/16 |
- |
2 |
2-47635561-T-A |
c.233T>A |
p.V78D |
Missense |
2/16 |
- |
1 |
2-47635561-T-G |
c.233T>G |
p.V78G |
Missense |
2/16 |
- |
1 |
2-47635563-G-A |
c.235G>A |
p.V79M |
Missense |
2/16 |
- |
3 |
2-47635563-G-C |
c.235G>C |
p.V79L |
Missense |
2/16 |
- |
1 |
2-47635563-G-T |
c.235G>T |
p.V79L |
Missense |
2/16 |
- |
1 |
2-47635562-T-TG |
c.235dup |
p.V79Gfs*3 |
Frameshift |
2/16 |
- |
1 |
2-47635564-T-A |
c.236T>A |
p.V79E |
Missense |
2/16 |
- |
1 |
2-47635564-T-C |
c.236T>C |
p.V79A |
Missense |
2/16 |
- |
1 |
2-47635564-T-G |
c.236T>G |
p.V79G |
Missense |
2/16 |
- |
1 |
2-47635566-C-A |
c.238C>A |
p.L80I |
Missense |
2/16 |
- |
1 |
2-47635566-C-G |
c.238C>G |
p.L80V |
Missense |
2/16 |
- |
1 |
2-47635566-C-T |
c.238C>T |
p.L80F |
Missense |
2/16 |
- |
1 |
2-47635567-T-C |
c.239T>C |
p.L80P |
Missense |
2/16 |
- |
1 |
2-47635567-T-G |
c.239T>G |
p.L80R |
Missense |
2/16 |
- |
1 |
2-47635569-A-C |
c.241A>C |
p.S81R |
Missense |
2/16 |
- |
1 |
2-47635569-A-G |
c.241A>G |
p.S81G |
Missense |
2/16 |
- |
1 |
2-47635569-A-T |
c.241A>T |
p.S81C |
Missense |
2/16 |
- |
2 |
2-47635570-G-GA |
c.242_243insA |
p.S81Rfs*2 |
Frameshift |
2/16 |
- |
1 |
2-47635570-G-A |
c.242G>A |
p.S81N |
Missense |
2/16 |
- |
1 |
2-47635570-G-C |
c.242G>C |
p.S81T |
Missense |
2/16 |
- |
1 |
2-47635570-G-T |
c.242G>T |
p.S81I |
Missense |
2/16 |
- |
1 |
2-47635571-T-A |
c.243T>A |
p.S81R |
Missense |
2/16 |
- |
1 |
2-47635571-T-G |
c.243T>G |
p.S81R |
Missense |
2/16 |
- |
1 |
2-47635572-A-T |
c.244A>T |
p.K82* |
Nonsense |
2/16 |
- |
2 |
2-47635572-A-C |
c.244A>C |
p.K82Q |
Missense |
2/16 |
- |
1 |
2-47635572-A-G |
c.244A>G |
p.K82E |
Missense |
2/16 |
- |
1 |
2-47635573-A-C |
c.245A>C |
p.K82T |
Missense |
2/16 |
- |
1 |
2-47635573-A-G |
c.245A>G |
p.K82R |
Missense |
2/16 |
- |
1 |
2-47635573-A-T |
c.245A>T |
p.K82I |
Missense |
2/16 |
- |
1 |
2-47635574-A-C |
c.246A>C |
p.K82N |
Missense |
2/16 |
- |
1 |
2-47635574-A-T |
c.246A>T |
p.K82N |
Missense |
2/16 |
- |
1 |
2-47635575-A-C |
c.247A>C |
p.M83L |
Missense |
2/16 |
- |
1 |
2-47635575-A-T |
c.247A>T |
p.M83L |
Missense |
2/16 |
- |
1 |
2-47635575-A-G |
c.247A>G |
p.M83V |
Missense |
2/16 |
- |
1 |
2-47635576-T-A |
c.248T>A |
p.M83K |
Missense |
2/16 |
- |
1 |
2-47635576-T-C |
c.248T>C |
p.M83T |
Missense |
2/16 |
- |
1 |
2-47635576-T-G |
c.248T>G |
p.M83R |
Missense |
2/16 |
- |
1 |
2-47635578-A-C |
c.250A>C |
p.N84H |
Missense |
2/16 |
- |
1 |
2-47635578-A-T |
c.250A>T |
p.N84Y |
Missense |
2/16 |
- |
1 |
2-47635579-A-C |
c.251A>C |
p.N84T |
Missense |
2/16 |
- |
1 |
2-47635579-A-G |
c.251A>G |
p.N84S |
Missense |
2/16 |
- |
1 |
2-47635579-A-T |
c.251A>T |
p.N84I |
Missense |
2/16 |
- |
1 |
2-47635580-T-A |
c.252T>A |
p.N84K |
Missense |
2/16 |
- |
1 |
2-47635580-T-G |
c.252T>G |
p.N84K |
Missense |
2/16 |
- |
1 |
2-47635581-T-A |
c.253T>A |
p.F85I |
Missense |
2/16 |
- |
1 |
2-47635581-T-C |
c.253T>C |
p.F85L |
Missense |
2/16 |
- |
1 |
2-47635581-T-G |
c.253T>G |
p.F85V |
Missense |
2/16 |
- |
1 |
2-47635582-T-A |
c.254T>A |
p.F85Y |
Missense |
2/16 |
- |
1 |
2-47635582-T-C |
c.254T>C |
p.F85S |
Missense |
2/16 |
- |
1 |
2-47635582-T-G |
c.254T>G |
p.F85C |
Missense |
2/16 |
- |
1 |
2-47635583-T-C |
c.255T>C |
p.F85= |
Synonymous |
2/16 |
- |
1 |
2-47635583-T-A |
c.255T>A |
p.F85L |
Missense |
2/16 |
- |
1 |
2-47635583-T-G |
c.255T>G |
p.F85L |
Missense |
2/16 |
- |
1 |
2-47635579-A-AT |
c.255dup |
p.E86* |
Nonsense |
2/16 |
- |
1 |
2-47635584-G-C |
c.256G>C |
p.E86Q |
Missense |
2/16 |
- |
1 |
2-47635584-G-T |
c.256G>T |
p.E86* |
Nonsense |
2/16 |
- |
1 |
2-47635585-A-C |
c.257A>C |
p.E86A |
Missense |
2/16 |
- |
1 |
2-47635585-A-G |
c.257A>G |
p.E86G |
Missense |
2/16 |
- |
1 |
2-47635585-A-T |
c.257A>T |
p.E86V |
Missense |
2/16 |
- |
1 |
2-47635586-A-C |
c.258A>C |
p.E86D |
Missense |
2/16 |
- |
1 |
2-47635586-A-T |
c.258A>T |
p.E86D |
Missense |
2/16 |
- |
1 |
2-47635587-T-A |
c.259T>A |
p.S87T |
Missense |
2/16 |
- |
1 |
2-47635587-T-C |
c.259T>C |
p.S87P |
Missense |
2/16 |
- |
1 |
2-47635587-T-G |
c.259T>G |
p.S87A |
Missense |
2/16 |
- |
1 |
2-47635588-C-A |
c.260C>A |
p.S87Y |
Missense |
2/16 |
- |
1 |
2-47635588-C-G |
c.260C>G |
p.S87C |
Missense |
2/16 |
- |
2 |
2-47635588-C-T |
c.260C>T |
p.S87F |
Missense |
2/16 |
- |
1 |
2-47635590-T-A |
c.262T>A |
p.F88I |
Missense |
2/16 |
- |
1 |
2-47635590-T-C |
c.262T>C |
p.F88L |
Missense |
2/16 |
- |
1 |
2-47635590-T-G |
c.262T>G |
p.F88V |
Missense |
2/16 |
- |
1 |
2-47635591-T-A |
c.263T>A |
p.F88Y |
Missense |
2/16 |
- |
1 |
2-47635591-T-C |
c.263T>C |
p.F88S |
Missense |
2/16 |
- |
1 |
2-47635591-T-G |
c.263T>G |
p.F88C |
Missense |
2/16 |
- |
1 |
2-47635592-T-A |
c.264T>A |
p.F88L |
Missense |
2/16 |
- |
1 |
2-47635592-T-G |
c.264T>G |
p.F88L |
Missense |
2/16 |
- |
1 |
2-47635593-G-T |
c.265G>T |
p.V89L |
Missense |
2/16 |
- |
3 |
2-47635593-G-A |
c.265G>A |
p.V89I |
Missense |
2/16 |
- |
1 |
2-47635593-G-C |
c.265G>C |
p.V89L |
Missense |
2/16 |
- |
2 |
2-47635594-T-C |
c.266T>C |
p.V89A |
Missense |
2/16 |
- |
4 |
2-47635594-T-A |
c.266T>A |
p.V89E |
Missense |
2/16 |
- |
1 |
2-47635594-T-G |
c.266T>G |
p.V89G |
Missense |
2/16 |
- |
1 |
2-47635596-A-G |
c.268A>G |
p.K90E |
Missense |
2/16 |
- |
1 |
2-47635596-A-C |
c.268A>C |
p.K90Q |
Missense |
2/16 |
- |
1 |
2-47635597-A-C |
c.269A>C |
p.K90T |
Missense |
2/16 |
- |
1 |
2-47635597-A-G |
c.269A>G |
p.K90R |
Missense |
2/16 |
- |
1 |
2-47635597-A-T |
c.269A>T |
p.K90I |
Missense |
2/16 |
- |
1 |
2-47635598-A-C |
c.270A>C |
p.K90N |
Missense |
2/16 |
- |
1 |
2-47635598-A-T |
c.270A>T |
p.K90N |
Missense |
2/16 |
- |
1 |
2-47635599-G-A |
c.271G>A |
p.D91N |
Missense |
2/16 |
- |
1 |
2-47635599-G-C |
c.271G>C |
p.D91H |
Missense |
2/16 |
- |
1 |
2-47635599-G-T |
c.271G>T |
p.D91Y |
Missense |
2/16 |
- |
1 |
2-47635599-AG-A |
c.271del |
p.D91Ifs*83 |
Frameshift |
2/16 |
- |
1 |
2-47635600-A-C |
c.272A>C |
p.D91A |
Missense |
2/16 |
- |
1 |
2-47635600-A-G |
c.272A>G |
p.D91G |
Missense |
2/16 |
- |
1 |
2-47635600-A-T |
c.272A>T |
p.D91V |
Missense |
2/16 |
- |
1 |
2-47635601-T-G |
c.273T>G |
p.D91E |
Missense |
2/16 |
- |
1 |
2-47635601-T-A |
c.273T>A |
p.D91E |
Missense |
2/16 |
- |
1 |
2-47635602-C-G |
c.274C>G |
p.L92V |
Missense |
2/16 |
- |
6 |
2-47635602-C-A |
c.274C>A |
p.L92I |
Missense |
2/16 |
- |
1 |
2-47635602-C-T |
c.274C>T |
p.L92F |
Missense |
2/16 |
- |
1 |
2-47635603-T-A |
c.275T>A |
p.L92H |
Missense |
2/16 |
- |
1 |
2-47635603-T-C |
c.275T>C |
p.L92P |
Missense |
2/16 |
- |
1 |
2-47635603-T-G |
c.275T>G |
p.L92R |
Missense |
2/16 |
- |
1 |
2-47635605-C-T |
c.277C>T |
p.L93F |
Missense |
2/16 |
- |
5 |
2-47635605-C-A |
c.277C>A |
p.L93I |
Missense |
2/16 |
- |
1 |
2-47635605-C-G |
c.277C>G |
p.L93V |
Missense |
2/16 |
- |
1 |
2-47635606-T-A |
c.278T>A |
p.L93H |
Missense |
2/16 |
- |
1 |
2-47635606-T-C |
c.278T>C |
p.L93P |
Missense |
2/16 |
- |
2 |
2-47635606-T-G |
c.278T>G |
p.L93R |
Missense |
2/16 |
- |
1 |
2-47635606-CTT-C |
c.278_279del |
p.L93Pfs*6 |
Frameshift |
2/16 |
- |
1 |
2-47635600-ATCT-A |
c.279_281del |
p.L94del |
InFrameDeletion |
2/16 |
- |
6 |
2-47635608-CT-GC |
c.280_281delinsGC |
p.L94A |
Missense |
2/16 |
- |
1 |
2-47635608-C-G |
c.280C>G |
p.L94V |
Missense |
2/16 |
- |
2 |
2-47635608-C-A |
c.280C>A |
p.L94M |
Missense |
2/16 |
- |
1 |
2-47635609-T-A |
c.281T>A |
p.L94Q |
Missense |
2/16 |
- |
1 |
2-47635609-T-C |
c.281T>C |
p.L94P |
Missense |
2/16 |
- |
1 |
2-47635609-T-G |
c.281T>G |
p.L94R |
Missense |
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 |
- |
1 |
2-47635611-G-C |
c.283G>C |
p.V95L |
Missense |
2/16 |
- |
1 |
2-47635611-G-T |
c.283G>T |
p.V95F |
Missense |
2/16 |
- |
1 |
2-47635612-T-A |
c.284T>A |
p.V95D |
Missense |
2/16 |
- |
1 |
2-47635612-T-C |
c.284T>C |
p.V95A |
Missense |
2/16 |
- |
1 |
2-47635612-T-G |
c.284T>G |
p.V95G |
Missense |
2/16 |
- |
1 |
2-47635614-C-T |
c.286C>T |
p.R96C |
Missense |
2/16 |
- |
2 |
2-47635614-C-A |
c.286C>A |
p.R96S |
Missense |
2/16 |
- |
1 |
2-47635614-C-G |
c.286C>G |
p.R96G |
Missense |
2/16 |
- |
1 |
2-47635615-G-A |
c.287G>A |
p.R96H |
Missense |
2/16 |
- |
7 |
2-47635615-G-C |
c.287G>C |
p.R96P |
Missense |
2/16 |
- |
1 |
2-47635615-G-T |
c.287G>T |
p.R96L |
Missense |
2/16 |
- |
1 |
2-47635617-C-A |
c.289C>A |
p.Q97K |
Missense |
2/16 |
- |
1 |
2-47635617-C-G |
c.289C>G |
p.Q97E |
Missense |
2/16 |
- |
1 |
2-47635617-C-T |
c.289C>T |
p.Q97* |
Nonsense |
2/16 |
- |
2 |
2-47635618-A-C |
c.290A>C |
p.Q97P |
Missense |
2/16 |
- |
1 |
2-47635618-A-G |
c.290A>G |
p.Q97R |
Missense |
2/16 |
- |
1 |
2-47635618-A-T |
c.290A>T |
p.Q97L |
Missense |
2/16 |
- |
1 |
2-47635620-T-A |
c.292T>A |
p.Y98N |
Missense |
2/16 |
- |
1 |
2-47635620-T-C |
c.292T>C |
p.Y98H |
Missense |
2/16 |
- |
1 |
2-47635620-T-G |
c.292T>G |
p.Y98D |
Missense |
2/16 |
- |
1 |
2-47635621-A-G |
c.293A>G |
p.Y98C |
Missense |
2/16 |
- |
4 |
2-47635621-A-T |
c.293A>T |
p.Y98F |
Missense |
2/16 |
- |
1 |
2-47635621-A-C |
c.293A>C |
p.Y98S |
Missense |
2/16 |
- |
1 |
2-47635623-A-G |
c.295A>G |
p.R99G |
Missense |
2/16 |
- |
1 |
2-47635623-A-T |
c.295A>T |
p.R99* |
Nonsense |
2/16 |
- |
1 |
2-47635624-G-A |
c.296G>A |
p.R99K |
Missense |
2/16 |
- |
2 |
2-47635624-G-C |
c.296G>C |
p.R99T |
Missense |
2/16 |
- |
1 |
2-47635624-G-T |
c.296G>T |
p.R99I |
Missense |
2/16 |
- |
1 |
2-47635625-A-C |
c.297A>C |
p.R99S |
Missense |
2/16 |
- |
1 |
2-47635625-A-T |
c.297A>T |
p.R99S |
Missense |
2/16 |
- |
1 |
2-47635626-G-A |
c.298G>A |
p.V100I |
Missense |
2/16 |
- |
5 |
2-47635626-G-C |
c.298G>C |
p.V100L |
Missense |
2/16 |
- |
1 |
2-47635626-G-T |
c.298G>T |
p.V100F |
Missense |
2/16 |
- |
1 |
2-47635627-T-G |
c.299T>G |
p.V100G |
Missense |
2/16 |
- |
2 |
2-47635627-T-A |
c.299T>A |
p.V100D |
Missense |
2/16 |
- |
1 |
2-47635627-T-C |
c.299T>C |
p.V100A |
Missense |
2/16 |
- |
1 |
2-47635629-G-A |
c.301G>A |
p.E101K |
Missense |
2/16 |
- |
2 |
2-47635629-G-C |
c.301G>C |
p.E101Q |
Missense |
2/16 |
- |
3 |
2-47635629-G-T |
c.301G>T |
p.E101* |
Nonsense |
2/16 |
- |
1 |
2-47635630-A-C |
c.302A>C |
p.E101A |
Missense |
2/16 |
- |
1 |
2-47635630-A-G |
c.302A>G |
p.E101G |
Missense |
2/16 |
- |
1 |
2-47635630-A-T |
c.302A>T |
p.E101V |
Missense |
2/16 |
- |
1 |
2-47635631-A-C |
c.303A>C |
p.E101D |
Missense |
2/16 |
- |
1 |
2-47635631-A-T |
c.303A>T |
p.E101D |
Missense |
2/16 |
- |
1 |
2-47635632-G-A |
c.304G>A |
p.V102I |
Missense |
2/16 |
- |
3 |
2-47635632-G-C |
c.304G>C |
p.V102L |
Missense |
2/16 |
- |
1 |
2-47635632-G-T |
c.304G>T |
p.V102F |
Missense |
2/16 |
- |
1 |
2-47635633-T-A |
c.305T>A |
p.V102D |
Missense |
2/16 |
- |
1 |
2-47635633-T-C |
c.305T>C |
p.V102A |
Missense |
2/16 |
- |
1 |
2-47635633-T-G |
c.305T>G |
p.V102G |
Missense |
2/16 |
- |
1 |
2-47635635-T-A |
c.307T>A |
p.Y103N |
Missense |
2/16 |
- |
1 |
2-47635635-T-C |
c.307T>C |
p.Y103H |
Missense |
2/16 |
- |
1 |
2-47635636-A-C |
c.308A>C |
p.Y103S |
Missense |
2/16 |
- |
1 |
2-47635636-A-G |
c.308A>G |
p.Y103C |
Missense |
2/16 |
- |
4 |
2-47635636-A-T |
c.308A>T |
p.Y103F |
Missense |
2/16 |
- |
1 |
2-47635638-A-C |
c.310A>C |
p.K104Q |
Missense |
2/16 |
- |
1 |
2-47635638-A-G |
c.310A>G |
p.K104E |
Missense |
2/16 |
- |
1 |
2-47635639-A-C |
c.311A>C |
p.K104T |
Missense |
2/16 |
- |
1 |
2-47635639-A-G |
c.311A>G |
p.K104R |
Missense |
2/16 |
- |
1 |
2-47635640-G-C |
c.312G>C |
p.K104N |
Missense |
2/16 |
- |
1 |
2-47635640-G-T |
c.312G>T |
p.K104N |
Missense |
2/16 |
- |
1 |
2-47635641-A-C |
c.313A>C |
p.N105H |
Missense |
2/16 |
- |
1 |
2-47635641-A-G |
c.313A>G |
p.N105D |
Missense |
2/16 |
- |
1 |
2-47635641-A-T |
c.313A>T |
p.N105Y |
Missense |
2/16 |
- |
1 |
2-47635642-A-C |
c.314A>C |
p.N105T |
Missense |
2/16 |
- |
1 |
2-47635642-A-G |
c.314A>G |
p.N105S |
Missense |
2/16 |
- |
1 |
2-47635642-A-T |
c.314A>T |
p.N105I |
Missense |
2/16 |
- |
1 |
2-47635643-T-A |
c.315T>A |
p.N105K |
Missense |
2/16 |
- |
1 |
2-47635643-T-G |
c.315T>G |
p.N105K |
Missense |
2/16 |
- |
1 |
2-47635644-A-G |
c.316A>G |
p.R106G |
Missense |
2/16 |
- |
1 |
2-47635645-G-A |
c.317G>A |
p.R106K |
Missense |
2/16 |
- |
5 |
2-47635645-G-C |
c.317G>C |
p.R106T |
Missense |
2/16 |
- |
2 |
2-47635645-G-T |
c.317G>T |
p.R106I |
Missense |
2/16 |
- |
1 |
2-47635646-A-C |
c.318A>C |
p.R106S |
Missense |
2/16 |
- |
1 |
2-47635646-A-T |
c.318A>T |
p.R106S |
Missense |
2/16 |
- |
1 |
2-47635647-G-C |
c.319G>C |
p.A107P |
Missense |
2/16 |
- |
3 |
2-47635647-G-A |
c.319G>A |
p.A107T |
Missense |
2/16 |
- |
1 |
2-47635647-G-T |
c.319G>T |
p.A107S |
Missense |
2/16 |
- |
1 |
2-47635648-C-A |
c.320C>A |
p.A107D |
Missense |
2/16 |
- |
1 |
2-47635648-C-G |
c.320C>G |
p.A107G |
Missense |
2/16 |
- |
1 |
2-47635648-C-T |
c.320C>T |
p.A107V |
Missense |
2/16 |
- |
1 |
2-47635649-CT-C |
c.321del |
p.G108Efs*66 |
Frameshift |
2/16 |
- |
1 |
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-G-C |
c.323G>C |
p.G108A |
Missense |
2/16 |
- |
1 |
2-47635651-G-T |
c.323G>T |
p.G108V |
Missense |
2/16 |
- |
1 |
2-47635653-A-C |
c.325A>C |
p.N109H |
Missense |
2/16 |
- |
1 |
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 |
- |
1 |
2-47635654-A-G |
c.326A>G |
p.N109S |
Missense |
2/16 |
- |
1 |
2-47635654-A-T |
c.326A>T |
p.N109I |
Missense |
2/16 |
- |
1 |
2-47635655-T-A |
c.327T>A |
p.N109K |
Missense |
2/16 |
- |
1 |
2-47635655-T-G |
c.327T>G |
p.N109K |
Missense |
2/16 |
- |
1 |
2-47635656-A-C |
c.328A>C |
p.K110Q |
Missense |
2/16 |
- |
2 |
2-47635656-A-G |
c.328A>G |
p.K110E |
Missense |
2/16 |
- |
1 |
2-47635657-A-C |
c.329A>C |
p.K110T |
Missense |
2/16 |
- |
3 |
2-47635657-A-G |
c.329A>G |
p.K110R |
Missense |
2/16 |
- |
2 |
2-47635657-A-T |
c.329A>T |
p.K110M |
Missense |
2/16 |
- |
1 |
2-47635658-G-C |
c.330G>C |
p.K110N |
Missense |
2/16 |
- |
1 |
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 |
- |
1 |
2-47635659-G-C |
c.331G>C |
p.A111P |
Missense |
2/16 |
- |
1 |
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 |
- |
2 |
2-47635660-C-A |
c.332C>A |
p.A111E |
Missense |
2/16 |
- |
1 |
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 |
2-47635663-C-G |
c.335C>G |
p.S112C |
Missense |
2/16 |
- |
2 |
2-47635663-C-A |
c.335C>A |
p.S112Y |
Missense |
2/16 |
- |
1 |
2-47635663-C-T |
c.335C>T |
p.S112F |
Missense |
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-C |
c.339G>C |
p.K113N |
Missense |
2/16 |
- |
1 |
2-47635667-G-T |
c.339G>T |
p.K113N |
Missense |
2/16 |
- |
1 |
2-47635667-G-A |
c.339G>A |
p.K113= |
Synonymous |
2/16 |
- |
3 |
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 |
- |
1 |
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-A-C |
c.343A>C |
p.N115H |
Missense |
2/16 |
- |
1 |
2-47635671-A-G |
c.343A>G |
p.N115D |
Missense |
2/16 |
- |
1 |
2-47635671-A-T |
c.343A>T |
p.N115Y |
Missense |
2/16 |
- |
1 |
2-47635672-A-C |
c.344A>C |
p.N115T |
Missense |
2/16 |
- |
1 |
2-47635672-A-G |
c.344A>G |
p.N115S |
Missense |
2/16 |
- |
1 |
2-47635672-A-T |
c.344A>T |
p.N115I |
Missense |
2/16 |
- |
1 |
2-47635670-GA-G |
c.344del |
p.N115Mfs*59 |
Frameshift |
2/16 |
- |
1 |
2-47635673-T-A |
c.345T>A |
p.N115K |
Missense |
2/16 |
- |
1 |
2-47635673-T-G |
c.345T>G |
p.N115K |
Missense |
2/16 |
- |
1 |
2-47635674-G-A |
c.346G>A |
p.D116N |
Missense |
2/16 |
- |
1 |
2-47635674-G-C |
c.346G>C |
p.D116H |
Missense |
2/16 |
- |
1 |
2-47635674-G-T |
c.346G>T |
p.D116Y |
Missense |
2/16 |
- |
1 |
2-47635675-A-C |
c.347A>C |
p.D116A |
Missense |
2/16 |
- |
1 |
2-47635675-A-G |
c.347A>G |
p.D116G |
Missense |
2/16 |
- |
1 |
2-47635675-A-T |
c.347A>T |
p.D116V |
Missense |
2/16 |
- |
1 |
2-47635672-ATGAT-A |
c.347_350del |
p.D116Gfs*57 |
Frameshift |
2/16 |
- |
1 |
2-47635676-T-A |
c.348T>A |
p.D116E |
Missense |
2/16 |
- |
2 |
2-47635676-T-G |
c.348T>G |
p.D116E |
Missense |
2/16 |
- |
1 |
2-47635677-T-A |
c.349T>A |
p.W117R |
Missense |
2/16 |
- |
1 |
2-47635677-T-C |
c.349T>C |
p.W117R |
Missense |
2/16 |
- |
1 |
2-47635677-T-G |
c.349T>G |
p.W117G |
Missense |
2/16 |
- |
1 |
2-47635678-G-C |
c.350G>C |
p.W117S |
Missense |
2/16 |
- |
1 |
2-47635678-G-T |
c.350G>T |
p.W117L |
Missense |
2/16 |
- |
1 |
2-47635679-G-GT |
c.352dup |
p.Y118Lfs*5 |
Frameshift |
2/16 |
- |
1 |
2-47635680-T-A |
c.352T>A |
p.Y118N |
Missense |
2/16 |
- |
1 |
2-47635680-T-C |
c.352T>C |
p.Y118H |
Missense |
2/16 |
- |
1 |
2-47635680-T-G |
c.352T>G |
p.Y118D |
Missense |
2/16 |
- |
1 |
2-47635681-A-C |
c.353A>C |
p.Y118S |
Missense |
2/16 |
- |
1 |
2-47635681-A-G |
c.353A>G |
p.Y118C |
Missense |
2/16 |
- |
1 |
2-47635681-A-T |
c.353A>T |
p.Y118F |
Missense |
2/16 |
- |
1 |
2-47635683-T-A |
c.355T>A |
p.L119M |
Missense |
2/16 |
- |
1 |
2-47635683-T-G |
c.355T>G |
p.L119V |
Missense |
2/16 |
- |
1 |
2-47635684-T-C |
c.356T>C |
p.L119S |
Missense |
2/16 |
- |
1 |
2-47635684-T-G |
c.356T>G |
p.L119W |
Missense |
2/16 |
- |
1 |
2-47635685-G-C |
c.357G>C |
p.L119F |
Missense |
2/16 |
- |
1 |
2-47635685-G-T |
c.357G>T |
p.L119F |
Missense |
2/16 |
- |
1 |
2-47635686-G-T |
c.358G>T |
p.A120S |
Missense |
2/16 |
- |
2 |
2-47635686-G-A |
c.358G>A |
p.A120T |
Missense |
2/16 |
- |
1 |
2-47635686-G-C |
c.358G>C |
p.A120P |
Missense |
2/16 |
- |
1 |
2-47635687-C-A |
c.359C>A |
p.A120E |
Missense |
2/16 |
- |
1 |
2-47635687-C-G |
c.359C>G |
p.A120G |
Missense |
2/16 |
- |
1 |
2-47635687-C-T |
c.359C>T |
p.A120V |
Missense |
2/16 |
- |
1 |
2-47635689-T-A |
c.361T>A |
p.Y121N |
Missense |
2/16 |
- |
1 |
2-47635689-T-C |
c.361T>C |
p.Y121H |
Missense |
2/16 |
- |
1 |
2-47635690-A-C |
c.362A>C |
p.Y121S |
Missense |
2/16 |
- |
1 |
2-47635690-A-G |
c.362A>G |
p.Y121C |
Missense |
2/16 |
- |
1 |
2-47635690-A-T |
c.362A>T |
p.Y121F |
Missense |
2/16 |
- |
2 |
2-47635691-T-G |
c.363T>G |
p.Y121* |
Nonsense |
2/16 |
- |
3 |
2-47635692-A-C |
c.364A>C |
p.K122Q |
Missense |
2/16 |
- |
1 |
2-47635692-A-G |
c.364A>G |
p.K122E |
Missense |
2/16 |
- |
1 |
2-47635695-G-A |
c.366+1G>A |
- |
IntronicSNV |
- |
2/15 |
4 |
2-47637233-G-A |
c.367G>A |
p.A123T |
Missense |
3/16 |
- |
2 |
2-47637234-GC-G |
c.368del |
p.A123Vfs*51 |
Frameshift |
3/16 |
- |
1 |
2-47637236-T-A |
c.370T>A |
p.S124T |
Missense |
3/16 |
- |
1 |
2-47637236-T-C |
c.370T>C |
p.S124P |
Missense |
3/16 |
- |
2 |
2-47637237-C-G |
c.371C>G |
p.S124C |
Missense |
3/16 |
- |
1 |
2-47637237-C-T |
c.371C>T |
p.S124F |
Missense |
3/16 |
- |
1 |
2-47637239-C-T |
c.373C>T |
p.P125S |
Missense |
3/16 |
- |
3 |
2-47637239-C-A |
c.373C>A |
p.P125T |
Missense |
3/16 |
- |
1 |
2-47637239-C-G |
c.373C>G |
p.P125A |
Missense |
3/16 |
- |
1 |
2-47637240-C-T |
c.374C>T |
p.P125L |
Missense |
3/16 |
- |
3 |
2-47637240-C-A |
c.374C>A |
p.P125H |
Missense |
3/16 |
- |
1 |
2-47637240-C-G |
c.374C>G |
p.P125R |
Missense |
3/16 |
- |
1 |
2-47637242-G-A |
c.376G>A |
p.G126S |
Missense |
3/16 |
- |
2 |
2-47637242-G-C |
c.376G>C |
p.G126R |
Missense |
3/16 |
- |
1 |
2-47637242-G-T |
c.376G>T |
p.G126C |
Missense |
3/16 |
- |
1 |
2-47637241-TG-T |
c.377del |
p.G126Afs*48 |
Frameshift |
3/16 |
- |
1 |
2-47637243-G-A |
c.377G>A |
p.G126D |
Missense |
3/16 |
- |
2 |
2-47637243-G-C |
c.377G>C |
p.G126A |
Missense |
3/16 |
- |
1 |
2-47637243-G-T |
c.377G>T |
p.G126V |
Missense |
3/16 |
- |
1 |
2-47637245-A-C |
c.379A>C |
p.N127H |
Missense |
3/16 |
- |
2 |
2-47637245-A-G |
c.379A>G |
p.N127D |
Missense |
3/16 |
- |
1 |
2-47637245-A-T |
c.379A>T |
p.N127Y |
Missense |
3/16 |
- |
1 |
2-47637246-A-G |
c.380A>G |
p.N127S |
Missense |
3/16 |
- |
25 |
2-47637246-A-C |
c.380A>C |
p.N127T |
Missense |
3/16 |
- |
3 |
2-47637246-A-T |
c.380A>T |
p.N127I |
Missense |
3/16 |
- |
4 |
2-47637247-T-C |
c.381T>C |
p.N127= |
Synonymous |
3/16 |
- |
1 |
2-47637247-T-A |
c.381T>A |
p.N127K |
Missense |
3/16 |
- |
1 |
2-47637247-T-G |
c.381T>G |
p.N127K |
Missense |
3/16 |
- |
1 |
2-47637248-C-G |
c.382C>G |
p.L128V |
Missense |
3/16 |
- |
4 |
2-47637248-TC-T |
c.382del |
p.L128Sfs*46 |
Frameshift |
3/16 |
- |
1 |
2-47637248-C-A |
c.382C>A |
p.L128I |
Missense |
3/16 |
- |
1 |
2-47637248-C-T |
c.382C>T |
p.L128F |
Missense |
3/16 |
- |
1 |
2-47637249-T-A |
c.383T>A |
p.L128H |
Missense |
3/16 |
- |
1 |
2-47637249-T-C |
c.383T>C |
p.L128P |
Missense |
3/16 |
- |
1 |
2-47637249-T-G |
c.383T>G |
p.L128R |
Missense |
3/16 |
- |
1 |
2-47637250-TC-T |
c.384del |
p.S129Lfs*45 |
Frameshift |
3/16 |
- |
1 |
2-47637250-C-CT |
c.385dup |
p.S129Ffs*4 |
Frameshift |
3/16 |
- |
1 |
2-47637251-T-C |
c.385T>C |
p.S129P |
Missense |
3/16 |
- |
1 |
2-47637251-T-A |
c.385T>A |
p.S129T |
Missense |
3/16 |
- |
1 |
2-47637251-T-G |
c.385T>G |
p.S129A |
Missense |
3/16 |
- |
1 |
2-47637252-C-A |
c.386C>A |
p.S129Y |
Missense |
3/16 |
- |
1 |
2-47637252-C-G |
c.386C>G |
p.S129C |
Missense |
3/16 |
- |
1 |
2-47637252-C-T |
c.386C>T |
p.S129F |
Missense |
3/16 |
- |
1 |
2-47637246-ATC-A |
c.387_388del |
p.Q130Vfs*2 |
Frameshift |
3/16 |
- |
1 |
2-47637254-TCA-T |
c.388_389del |
p.Q130Vfs*2 |
Frameshift |
3/16 |
- |
12 |
2-47637254-C-A |
c.388C>A |
p.Q130K |
Missense |
3/16 |
- |
1 |
2-47637254-C-G |
c.388C>G |
p.Q130E |
Missense |
3/16 |
- |
1 |
2-47637254-C-T |
c.388C>T |
p.Q130* |
Nonsense |
3/16 |
- |
1 |
2-47637254-CA-GT |
c.388_389delinsGT |
p.Q130V |
Missense |
3/16 |
- |
1 |
2-47637255-A-C |
c.389A>C |
p.Q130P |
Missense |
3/16 |
- |
1 |
2-47637255-A-G |
c.389A>G |
p.Q130R |
Missense |
3/16 |
- |
1 |
2-47637255-A-T |
c.389A>T |
p.Q130L |
Missense |
3/16 |
- |
1 |
2-47637256-G-T |
c.390G>T |
p.Q130H |
Missense |
3/16 |
- |
2 |
2-47637256-G-C |
c.390G>C |
p.Q130H |
Missense |
3/16 |
- |
1 |
2-47637257-T-G |
c.391T>G |
p.F131V |
Missense |
3/16 |
- |
2 |
2-47637257-T-A |
c.391T>A |
p.F131I |
Missense |
3/16 |
- |
1 |
2-47637257-T-C |
c.391T>C |
p.F131L |
Missense |
3/16 |
- |
1 |
2-47637258-T-A |
c.392T>A |
p.F131Y |
Missense |
3/16 |
- |
1 |
2-47637258-T-C |
c.392T>C |
p.F131S |
Missense |
3/16 |
- |
1 |
2-47637258-T-G |
c.392T>G |
p.F131C |
Missense |
3/16 |
- |
1 |
2-47637259-T-A |
c.393T>A |
p.F131L |
Missense |
3/16 |
- |
1 |
2-47637259-T-G |
c.393T>G |
p.F131L |
Missense |
3/16 |
- |
1 |
2-47637260-G-A |
c.394G>A |
p.E132K |
Missense |
3/16 |
- |
1 |
2-47637260-G-C |
c.394G>C |
p.E132Q |
Missense |
3/16 |
- |
1 |
2-47637260-G-T |
c.394G>T |
p.E132* |
Nonsense |
3/16 |
- |
1 |
2-47637261-A-C |
c.395A>C |
p.E132A |
Missense |
3/16 |
- |
1 |
2-47637261-A-G |
c.395A>G |
p.E132G |
Missense |
3/16 |
- |
1 |
2-47637261-A-T |
c.395A>T |
p.E132V |
Missense |
3/16 |
- |
1 |
2-47637262-A-C |
c.396A>C |
p.E132D |
Missense |
3/16 |
- |
1 |
2-47637262-A-T |
c.396A>T |
p.E132D |
Missense |
3/16 |
- |
1 |
2-47637263-G-A |
c.397G>A |
p.D133N |
Missense |
3/16 |
- |
1 |
2-47637263-G-C |
c.397G>C |
p.D133H |
Missense |
3/16 |
- |
1 |
2-47637263-G-T |
c.397G>T |
p.D133Y |
Missense |
3/16 |
- |
1 |
2-47637264-A-C |
c.398A>C |
p.D133A |
Missense |
3/16 |
- |
1 |
2-47637264-A-G |
c.398A>G |
p.D133G |
Missense |
3/16 |
- |
1 |
2-47637264-A-T |
c.398A>T |
p.D133V |
Missense |
3/16 |
- |
1 |
2-47637266-A-C |
c.400A>C |
p.I134L |
Missense |
3/16 |
- |
1 |
2-47637266-A-G |
c.400A>G |
p.I134V |
Missense |
3/16 |
- |
1 |
2-47637266-A-T |
c.400A>T |
p.I134F |
Missense |
3/16 |
- |
1 |
2-47637267-T-A |
c.401T>A |
p.I134N |
Missense |
3/16 |
- |
1 |
2-47637267-T-C |
c.401T>C |
p.I134T |
Missense |
3/16 |
- |
1 |
2-47637267-T-G |
c.401T>G |
p.I134S |
Missense |
3/16 |
- |
1 |
2-47637269-C-A |
c.403C>A |
p.L135I |
Missense |
3/16 |
- |
1 |
2-47637269-C-G |
c.403C>G |
p.L135V |
Missense |
3/16 |
- |
1 |
2-47637269-C-T |
c.403C>T |
p.L135F |
Missense |
3/16 |
- |
1 |
2-47637269-CT-TA |
c.403_404delinsTA |
p.L135Y |
Missense |
3/16 |
- |
1 |
2-47637270-T-A |
c.404T>A |
p.L135H |
Missense |
3/16 |
- |
1 |
2-47637270-T-C |
c.404T>C |
p.L135P |
Missense |
3/16 |
- |
1 |
2-47637270-T-G |
c.404T>G |
p.L135R |
Missense |
3/16 |
- |
1 |
2-47637272-T-A |
c.406T>A |
p.F136I |
Missense |
3/16 |
- |
1 |
2-47637272-T-C |
c.406T>C |
p.F136L |
Missense |
3/16 |
- |
1 |
2-47637272-T-G |
c.406T>G |
p.F136V |
Missense |
3/16 |
- |
1 |
2-47637273-T-A |
c.407T>A |
p.F136Y |
Missense |
3/16 |
- |
1 |
2-47637273-T-C |
c.407T>C |
p.F136S |
Missense |
3/16 |
- |
1 |
2-47637273-T-G |
c.407T>G |
p.F136C |
Missense |
3/16 |
- |
1 |
2-47637274-T-A |
c.408T>A |
p.F136L |
Missense |
3/16 |
- |
1 |
2-47637274-T-G |
c.408T>G |
p.F136L |
Missense |
3/16 |
- |
1 |
2-47637271-CT-C |
c.408del |
p.F136Lfs*38 |
Frameshift |
3/16 |
- |
1 |
2-47637275-G-C |
c.409G>C |
p.G137R |
Missense |
3/16 |
- |
2 |
2-47637275-G-A |
c.409G>A |
p.G137S |
Missense |
3/16 |
- |
2 |
2-47637275-G-T |
c.409G>T |
p.G137C |
Missense |
3/16 |
- |
1 |
2-47637276-G-A |
c.410G>A |
p.G137D |
Missense |
3/16 |
- |
1 |
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 |
- |
1 |
2-47637277-T-G |
c.411T>G |
p.G137= |
Synonymous |
3/16 |
- |
1 |
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 |
- |
1 |
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 |
- |
2 |
2-47637279-A-C |
c.413A>C |
p.N138T |
Missense |
3/16 |
- |
1 |
2-47637279-A-T |
c.413A>T |
p.N138I |
Missense |
3/16 |
- |
1 |
2-47637280-C-A |
c.414C>A |
p.N138K |
Missense |
3/16 |
- |
1 |
2-47637280-C-G |
c.414C>G |
p.N138K |
Missense |
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 |
2-47637280-CA-C |
c.416del |
p.N139Mfs*35 |
Frameshift |
3/16 |
- |
2 |
2-47637282-A-C |
c.416A>C |
p.N139T |
Missense |
3/16 |
- |
1 |
2-47637282-A-G |
c.416A>G |
p.N139S |
Missense |
3/16 |
- |
1 |
2-47637282-A-T |
c.416A>T |
p.N139I |
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 |
2-47637284-G-A |
c.418G>A |
p.D140N |
Missense |
3/16 |
- |
2 |
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 |
- |
2 |
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 |
2-47637286-T-A |
c.420T>A |
p.D140E |
Missense |
3/16 |
- |
1 |
2-47637286-T-G |
c.420T>G |
p.D140E |
Missense |
3/16 |
- |
1 |
2-47637285-A-AT |
c.420dup |
p.M141Yfs*11 |
Frameshift |
3/16 |
- |
1 |
2-47637287-A-G |
c.421A>G |
p.M141V |
Missense |
3/16 |
- |
2 |
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 |
2-47637288-T-A |
c.422T>A |
p.M141K |
Missense |
3/16 |
- |
1 |
2-47637288-T-C |
c.422T>C |
p.M141T |
Missense |
3/16 |
- |
1 |
2-47637288-T-G |
c.422T>G |
p.M141R |
Missense |
3/16 |
- |
1 |
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 |
2-47637289-G-T |
c.423G>T |
p.M141I |
Missense |
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 |
- |
1 |
2-47637291-C-G |
c.425C>G |
p.S142* |
Nonsense |
3/16 |
- |
2 |
2-47637291-C-T |
c.425C>T |
p.S142L |
Missense |
3/16 |
- |
2 |
2-47637293-G-A |
c.427G>A |
p.A143T |
Missense |
3/16 |
- |
1 |
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 |
- |
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 |
- |
1 |
2-47637294-C-T |
c.428C>T |
p.A143V |
Missense |
3/16 |
- |
1 |
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-AT |
c.430_431delinsAT |
p.S144I |
Missense |
3/16 |
- |
1 |
2-47637297-C-A |
c.431C>A |
p.S144Y |
Missense |
3/16 |
- |
1 |
2-47637297-C-G |
c.431C>G |
p.S144C |
Missense |
3/16 |
- |
1 |
2-47637297-C-T |
c.431C>T |
p.S144F |
Missense |
3/16 |
- |
1 |
2-47637299-A-C |
c.433A>C |
p.I145L |
Missense |
3/16 |
- |
1 |
2-47637299-A-G |
c.433A>G |
p.I145V |
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 |
- |
1 |
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 |
- |
15 |
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 |
- |
1 |
2-47637302-G-T |
c.436G>T |
p.G146C |
Missense |
3/16 |
- |
1 |
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 |
2-47637303-G-T |
c.437G>T |
p.G146V |
Missense |
3/16 |
- |
1 |
2-47637305-G-A |
c.439G>A |
p.V147I |
Missense |
3/16 |
- |
1 |
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-C |
c.440T>C |
p.V147A |
Missense |
3/16 |
- |
2 |
2-47637306-T-A |
c.440T>A |
p.V147D |
Missense |
3/16 |
- |
1 |
2-47637306-T-G |
c.440T>G |
p.V147G |
Missense |
3/16 |
- |
2 |
2-47637308-G-A |
c.442G>A |
p.V148M |
Missense |
3/16 |
- |
1 |
2-47637308-G-C |
c.442G>C |
p.V148L |
Missense |
3/16 |
- |
1 |
2-47637308-G-T |
c.442G>T |
p.V148L |
Missense |
3/16 |
- |
1 |
2-47637309-T-A |
c.443T>A |
p.V148E |
Missense |
3/16 |
- |
2 |
2-47637309-T-C |
c.443T>C |
p.V148A |
Missense |
3/16 |
- |
1 |
2-47637309-T-G |
c.443T>G |
p.V148G |
Missense |
3/16 |
- |
1 |
2-47637311-GG-AC |
c.445_446delinsAC |
p.G149T |
Missense |
3/16 |
- |
1 |
2-47637311-G-A |
c.445G>A |
p.G149S |
Missense |
3/16 |
- |
1 |
2-47637311-G-C |
c.445G>C |
p.G149R |
Missense |
3/16 |
- |
1 |
2-47637311-G-T |
c.445G>T |
p.G149C |
Missense |
3/16 |
- |
1 |
2-47637312-G-A |
c.446G>A |
p.G149D |
Missense |
3/16 |
- |
1 |
2-47637312-G-C |
c.446G>C |
p.G149A |
Missense |
3/16 |
- |
1 |
2-47637312-G-T |
c.446G>T |
p.G149V |
Missense |
3/16 |
- |
1 |
2-47637314-G-A |
c.448G>A |
p.V150I |
Missense |
3/16 |
- |
1 |
2-47637314-G-C |
c.448G>C |
p.V150L |
Missense |
3/16 |
- |
1 |
2-47637314-G-T |
c.448G>T |
p.V150F |
Missense |
3/16 |
- |
1 |
2-47637315-T-A |
c.449T>A |
p.V150D |
Missense |
3/16 |
- |
1 |
2-47637315-T-C |
c.449T>C |
p.V150A |
Missense |
3/16 |
- |
1 |
2-47637315-T-G |
c.449T>G |
p.V150G |
Missense |
3/16 |
- |
1 |
2-47637317-A-C |
c.451A>C |
p.K151Q |
Missense |
3/16 |
- |
1 |
2-47637318-A-C |
c.452A>C |
p.K151T |
Missense |
3/16 |
- |
1 |
2-47637318-A-G |
c.452A>G |
p.K151R |
Missense |
3/16 |
- |
1 |
2-47637318-A-T |
c.452A>T |
p.K151I |
Missense |
3/16 |
- |
1 |
2-47637319-A-C |
c.453A>C |
p.K151N |
Missense |
3/16 |
- |
1 |
2-47637319-A-T |
c.453A>T |
p.K151N |
Missense |
3/16 |
- |
1 |
2-47637316-TA-T |
c.454del |
p.M152Cfs*22 |
Frameshift |
3/16 |
- |
1 |
2-47637320-A-C |
c.454A>C |
p.M152L |
Missense |
3/16 |
- |
1 |
2-47637320-A-T |
c.454A>T |
p.M152L |
Missense |
3/16 |
- |
1 |
2-47637320-A-G |
c.454A>G |
p.M152V |
Missense |
3/16 |
- |
1 |
2-47637321-T-A |
c.455T>A |
p.M152K |
Missense |
3/16 |
- |
1 |
2-47637321-T-C |
c.455T>C |
p.M152T |
Missense |
3/16 |
- |
1 |
2-47637321-T-G |
c.455T>G |
p.M152R |
Missense |
3/16 |
- |
1 |
2-47637322-G-A |
c.456G>A |
p.M152I |
Missense |
3/16 |
- |
1 |
2-47637322-G-C |
c.456G>C |
p.M152I |
Missense |
3/16 |
- |
1 |
2-47637322-G-T |
c.456G>T |
p.M152I |
Missense |
3/16 |
- |
1 |
2-47637323-T-A |
c.457T>A |
p.S153T |
Missense |
3/16 |
- |
1 |
2-47637323-T-C |
c.457T>C |
p.S153P |
Missense |
3/16 |
- |
1 |
2-47637323-T-G |
c.457T>G |
p.S153A |
Missense |
3/16 |
- |
1 |
2-47637324-C-A |
c.458C>A |
p.S153Y |
Missense |
3/16 |
- |
1 |
2-47637324-C-G |
c.458C>G |
p.S153C |
Missense |
3/16 |
- |
2 |
2-47637324-C-T |
c.458C>T |
p.S153F |
Missense |
3/16 |
- |
1 |
2-47637326-G-A |
c.460G>A |
p.A154T |
Missense |
3/16 |
- |
1 |
2-47637326-G-C |
c.460G>C |
p.A154P |
Missense |
3/16 |
- |
1 |
2-47637326-G-T |
c.460G>T |
p.A154S |
Missense |
3/16 |
- |
1 |
2-47637327-C-A |
c.461C>A |
p.A154E |
Missense |
3/16 |
- |
1 |
2-47637327-C-G |
c.461C>G |
p.A154G |
Missense |
3/16 |
- |
1 |
2-47637327-C-T |
c.461C>T |
p.A154V |
Missense |
3/16 |
- |
1 |
2-47637329-G-A |
c.463G>A |
p.V155I |
Missense |
3/16 |
- |
1 |
2-47637329-G-C |
c.463G>C |
p.V155L |
Missense |
3/16 |
- |
1 |
2-47637329-G-T |
c.463G>T |
p.V155F |
Missense |
3/16 |
- |
1 |
2-47637330-T-A |
c.464T>A |
p.V155D |
Missense |
3/16 |
- |
1 |
2-47637330-T-C |
c.464T>C |
p.V155A |
Missense |
3/16 |
- |
1 |
2-47637330-T-G |
c.464T>G |
p.V155G |
Missense |
3/16 |
- |
1 |
2-47637332-G-A |
c.466G>A |
p.D156N |
Missense |
3/16 |
- |
1 |
2-47637332-G-C |
c.466G>C |
p.D156H |
Missense |
3/16 |
- |
1 |
2-47637332-G-T |
c.466G>T |
p.D156Y |
Missense |
3/16 |
- |
1 |
2-47637333-A-C |
c.467A>C |
p.D156A |
Missense |
3/16 |
- |
1 |
2-47637333-A-G |
c.467A>G |
p.D156G |
Missense |
3/16 |
- |
1 |
2-47637333-A-T |
c.467A>T |
p.D156V |
Missense |
3/16 |
- |
1 |
2-47637334-T-A |
c.468T>A |
p.D156E |
Missense |
3/16 |
- |
1 |
2-47637334-T-G |
c.468T>G |
p.D156E |
Missense |
3/16 |
- |
1 |
2-47637335-G-A |
c.469G>A |
p.G157S |
Missense |
3/16 |
- |
1 |
2-47637335-G-C |
c.469G>C |
p.G157R |
Missense |
3/16 |
- |
1 |
2-47637335-G-T |
c.469G>T |
p.G157C |
Missense |
3/16 |
- |
1 |
2-47637336-G-A |
c.470G>A |
p.G157D |
Missense |
3/16 |
- |
1 |
2-47637336-G-C |
c.470G>C |
p.G157A |
Missense |
3/16 |
- |
1 |
2-47637336-G-T |
c.470G>T |
p.G157V |
Missense |
3/16 |
- |
1 |
2-47637337-C-A |
c.471C>A |
p.G157= |
Synonymous |
3/16 |
- |
2 |
2-47637337-C-T |
c.471C>T |
p.G157= |
Synonymous |
3/16 |
- |
2 |
2-47637338-C-A |
c.472C>A |
p.Q158K |
Missense |
3/16 |
- |
1 |
2-47637338-C-G |
c.472C>G |
p.Q158E |
Missense |
3/16 |
- |
1 |
2-47637339-A-C |
c.473A>C |
p.Q158P |
Missense |
3/16 |
- |
1 |
2-47637339-A-G |
c.473A>G |
p.Q158R |
Missense |
3/16 |
- |
1 |
2-47637339-A-T |
c.473A>T |
p.Q158L |
Missense |
3/16 |
- |
1 |
2-47637340-G-C |
c.474G>C |
p.Q158H |
Missense |
3/16 |
- |
1 |
2-47637340-G-T |
c.474G>T |
p.Q158H |
Missense |
3/16 |
- |
1 |
2-47637341-A-G |
c.475A>G |
p.R159G |
Missense |
3/16 |
- |
1 |
2-47637340-G-GA |
c.475dup |
p.R159Kfs*19 |
Frameshift |
3/16 |
- |
1 |
2-47637342-G-A |
c.476G>A |
p.R159K |
Missense |
3/16 |
- |
1 |
2-47637342-G-C |
c.476G>C |
p.R159T |
Missense |
3/16 |
- |
1 |
2-47637342-G-T |
c.476G>T |
p.R159I |
Missense |
3/16 |
- |
1 |
2-47637343-A-C |
c.477A>C |
p.R159S |
Missense |
3/16 |
- |
1 |
2-47637343-A-T |
c.477A>T |
p.R159S |
Missense |
3/16 |
- |
1 |
2-47637344-C-T |
c.478C>T |
p.Q160* |
Nonsense |
3/16 |
- |
1 |
2-47637344-C-G |
c.478C>G |
p.Q160E |
Missense |
3/16 |
- |
1 |
2-47637345-A-C |
c.479A>C |
p.Q160P |
Missense |
3/16 |
- |
1 |
2-47637345-A-G |
c.479A>G |
p.Q160R |
Missense |
3/16 |
- |
1 |
2-47637345-A-T |
c.479A>T |
p.Q160L |
Missense |
3/16 |
- |
1 |
2-47637346-G-T |
c.480G>T |
p.Q160H |
Missense |
3/16 |
- |
2 |
2-47637346-G-C |
c.480G>C |
p.Q160H |
Missense |
3/16 |
- |
1 |
2-47637347-G-T |
c.481G>T |
p.V161F |
Missense |
3/16 |
- |
2 |
2-47637347-G-A |
c.481G>A |
p.V161I |
Missense |
3/16 |
- |
1 |
2-47637347-G-C |
c.481G>C |
p.V161L |
Missense |
3/16 |
- |
1 |
2-47637348-T-A |
c.482T>A |
p.V161D |
Missense |
3/16 |
- |
6 |
2-47637348-T-C |
c.482T>C |
p.V161A |
Missense |
3/16 |
- |
1 |
2-47637348-T-G |
c.482T>G |
p.V161G |
Missense |
3/16 |
- |
1 |
2-47637350-G-A |
c.484G>A |
p.G162R |
Missense |
3/16 |
- |
9 |
2-47637350-G-C |
c.484G>C |
p.G162R |
Missense |
3/16 |
- |
1 |
2-47637351-G-C |
c.485G>C |
p.G162A |
Missense |
3/16 |
- |
3 |
2-47637351-G-A |
c.485G>A |
p.G162E |
Missense |
3/16 |
- |
1 |
2-47637351-G-T |
c.485G>T |
p.G162V |
Missense |
3/16 |
- |
1 |
2-47637353-G-A |
c.487G>A |
p.V163I |
Missense |
3/16 |
- |
2 |
2-47637353-G-C |
c.487G>C |
p.V163L |
Missense |
3/16 |
- |
2 |
2-47637353-G-T |
c.487G>T |
p.V163F |
Missense |
3/16 |
- |
1 |
2-47637354-T-A |
c.488T>A |
p.V163D |
Missense |
3/16 |
- |
6 |
2-47637354-T-G |
c.488T>G |
p.V163G |
Missense |
3/16 |
- |
4 |
2-47637354-T-C |
c.488T>C |
p.V163A |
Missense |
3/16 |
- |
1 |
2-47637356-G-A |
c.490G>A |
p.G164R |
Missense |
3/16 |
- |
6 |
2-47637356-G-C |
c.490G>C |
p.G164R |
Missense |
3/16 |
- |
3 |
2-47637356-TGGGTATGTGGATTCCATAC-T |
c.490_508del |
p.G164Rfs*4 |
Frameshift |
3/16 |
- |
1 |
2-47637357-G-A |
c.491G>A |
p.G164E |
Missense |
3/16 |
- |
3 |
2-47637357-G-C |
c.491G>C |
p.G164A |
Missense |
3/16 |
- |
1 |
2-47637357-G-T |
c.491G>T |
p.G164V |
Missense |
3/16 |
- |
1 |
2-47637354-TTGGGTA-T |
c.491_496del |
p.G164_Y165del |
InFrameDeletion |
3/16 |
- |
1 |
2-47637359-T-G |
c.493T>G |
p.Y165D |
Missense |
3/16 |
- |
6 |
2-47637359-T-C |
c.493T>C |
p.Y165H |
Missense |
3/16 |
- |
1 |
2-47637359-TA-GT |
c.493_494delinsGT |
p.Y165V |
Missense |
3/16 |
- |
1 |
2-47637360-A-G |
c.494A>G |
p.Y165C |
Missense |
3/16 |
- |
49 |
2-47637360-A-C |
c.494A>C |
p.Y165S |
Missense |
3/16 |
- |
1 |
2-47637360-A-T |
c.494A>T |
p.Y165F |
Missense |
3/16 |
- |
1 |
2-47637361-T-A |
c.495T>A |
p.Y165* |
Nonsense |
3/16 |
- |
2 |
2-47637361-T-G |
c.495T>G |
p.Y165* |
Nonsense |
3/16 |
- |
1 |
2-47637362-G-A |
c.496G>A |
p.V166M |
Missense |
3/16 |
- |
1 |
2-47637362-G-C |
c.496G>C |
p.V166L |
Missense |
3/16 |
- |
1 |
2-47637362-G-T |
c.496G>T |
p.V166L |
Missense |
3/16 |
- |
1 |
2-47637363-T-C |
c.497T>C |
p.V166A |
Missense |
3/16 |
- |
1 |
2-47637363-T-G |
c.497T>G |
p.V166G |
Missense |
3/16 |
- |
1 |
2-47637365-G-C |
c.499G>C |
p.D167H |
Missense |
3/16 |
- |
12 |
2-47637365-G-A |
c.499G>A |
p.D167N |
Missense |
3/16 |
- |
1 |
2-47637365-G-T |
c.499G>T |
p.D167Y |
Missense |
3/16 |
- |
1 |
2-47637366-A-C |
c.500A>C |
p.D167A |
Missense |
3/16 |
- |
1 |
2-47637366-A-G |
c.500A>G |
p.D167G |
Missense |
3/16 |
- |
1 |
2-47637366-A-T |
c.500A>T |
p.D167V |
Missense |
3/16 |
- |
1 |
2-47637368-T-A |
c.502T>A |
p.S168T |
Missense |
3/16 |
- |
1 |
2-47637368-T-C |
c.502T>C |
p.S168P |
Missense |
3/16 |
- |
1 |
2-47637368-T-G |
c.502T>G |
p.S168A |
Missense |
3/16 |
- |
1 |
2-47637369-C-A |
c.503C>A |
p.S168Y |
Missense |
3/16 |
- |
1 |
2-47637369-C-G |
c.503C>G |
p.S168C |
Missense |
3/16 |
- |
1 |
2-47637369-C-T |
c.503C>T |
p.S168F |
Missense |
3/16 |
- |
1 |
2-47637371-A-G |
c.505A>G |
p.I169V |
Missense |
3/16 |
- |
14 |
2-47637371-A-C |
c.505A>C |
p.I169L |
Missense |
3/16 |
- |
1 |
2-47637371-A-T |
c.505A>T |
p.I169L |
Missense |
3/16 |
- |
1 |
2-47637372-T-C |
c.506T>C |
p.I169T |
Missense |
3/16 |
- |
1 |
2-47637372-T-G |
c.506T>G |
p.I169R |
Missense |
3/16 |
- |
1 |
2-47637373-A-G |
c.507A>G |
p.I169M |
Missense |
3/16 |
- |
1 |
2-47637374-C-T |
c.508C>T |
p.Q170* |
Nonsense |
3/16 |
- |
5 |
2-47637374-C-G |
c.508C>G |
p.Q170E |
Missense |
3/16 |
- |
2 |
2-47637374-C-A |
c.508C>A |
p.Q170K |
Missense |
3/16 |
- |
1 |
2-47637375-CA-C |
c.509del |
p.Q170Rfs*4 |
Frameshift |
3/16 |
- |
1 |
2-47637375-A-C |
c.509A>C |
p.Q170P |
Missense |
3/16 |
- |
1 |
2-47637375-A-G |
c.509A>G |
p.Q170R |
Missense |
3/16 |
- |
1 |
2-47637375-A-T |
c.509A>T |
p.Q170L |
Missense |
3/16 |
- |
1 |
2-47637376-G-C |
c.510G>C |
p.Q170H |
Missense |
3/16 |
- |
1 |
2-47637376-G-T |
c.510G>T |
p.Q170H |
Missense |
3/16 |
- |
1 |
2-47637377-A-G |
c.511A>G |
p.R171G |
Missense |
3/16 |
- |
1 |
2-47637377-A-T |
c.511A>T |
p.R171W |
Missense |
3/16 |
- |
1 |
2-47637378-G-A |
c.512G>A |
p.R171K |
Missense |
3/16 |
- |
3 |
2-47637378-G-C |
c.512G>C |
p.R171T |
Missense |
3/16 |
- |
1 |
2-47637378-G-T |
c.512G>T |
p.R171M |
Missense |
3/16 |
- |
1 |
2-47637379-G-C |
c.513G>C |
p.R171S |
Missense |
3/16 |
- |
1 |
2-47637379-G-T |
c.513G>T |
p.R171S |
Missense |
3/16 |
- |
1 |
2-47637377-AG-A |
c.513del |
p.K172Nfs*2 |
Frameshift |
3/16 |
- |
1 |
2-47637380-A-G |
c.514A>G |
p.K172E |
Missense |
3/16 |
- |
1 |
2-47637381-A-C |
c.515A>C |
p.K172T |
Missense |
3/16 |
- |
1 |
2-47637381-A-G |
c.515A>G |
p.K172R |
Missense |
3/16 |
- |
1 |
2-47637381-A-T |
c.515A>T |
p.K172I |
Missense |
3/16 |
- |
1 |
2-47637382-A-C |
c.516A>C |
p.K172N |
Missense |
3/16 |
- |
1 |
2-47637382-A-T |
c.516A>T |
p.K172N |
Missense |
3/16 |
- |
1 |
2-47637383-C-A |
c.517C>A |
p.L173I |
Missense |
3/16 |
- |
1 |
2-47637383-C-G |
c.517C>G |
p.L173V |
Missense |
3/16 |
- |
1 |
2-47637384-T-C |
c.518T>C |
p.L173P |
Missense |
3/16 |
- |
6 |
2-47637384-T-G |
c.518T>G |
p.L173R |
Missense |
3/16 |
- |
9 |
2-47637384-T-A |
c.518T>A |
p.L173Q |
Missense |
3/16 |
- |
1 |
2-47637386-G-A |
c.520G>A |
p.G174R |
Missense |
3/16 |
- |
1 |
2-47637386-G-C |
c.520G>C |
p.G174R |
Missense |
3/16 |
- |
1 |
2-47637387-G-A |
c.521G>A |
p.G174E |
Missense |
3/16 |
- |
1 |
2-47637387-G-C |
c.521G>C |
p.G174A |
Missense |
3/16 |
- |
1 |
2-47637387-G-T |
c.521G>T |
p.G174V |
Missense |
3/16 |
- |
1 |
2-47637389-C-A |
c.523C>A |
p.L175M |
Missense |
3/16 |
- |
1 |
2-47637389-C-G |
c.523C>G |
p.L175V |
Missense |
3/16 |
- |
1 |
2-47637390-T-A |
c.524T>A |
p.L175Q |
Missense |
3/16 |
- |
1 |
2-47637390-T-C |
c.524T>C |
p.L175P |
Missense |
3/16 |
- |
2 |
2-47637390-T-G |
c.524T>G |
p.L175R |
Missense |
3/16 |
- |
1 |
2-47637389-C-T |
c.523C>T |
p.L175= |
Synonymous |
3/16 |
- |
1 |
2-47637391-G-T |
c.525G>T |
p.L175= |
Synonymous |
3/16 |
- |
1 |
2-47637391-G-A |
c.525G>A |
p.L175= |
Synonymous |
3/16 |
- |
1 |
2-47637391-G-C |
c.525G>C |
p.L175= |
Synonymous |
3/16 |
- |
1 |
2-47637392-T-A |
c.526T>A |
p.C176S |
Missense |
3/16 |
- |
1 |
2-47637392-T-C |
c.526T>C |
p.C176R |
Missense |
3/16 |
- |
1 |
2-47637392-T-G |
c.526T>G |
p.C176G |
Missense |
3/16 |
- |
1 |
2-47637393-G-T |
c.527G>T |
p.C176F |
Missense |
3/16 |
- |
2 |
2-47637393-G-C |
c.527G>C |
p.C176S |
Missense |
3/16 |
- |
1 |
2-47637393-G-A |
c.527G>A |
p.C176Y |
Missense |
3/16 |
- |
1 |
2-47637389-CTG-C |
c.528_529del |
p.C176* |
Frameshift |
3/16 |
- |
3 |
2-47637394-T-G |
c.528T>G |
p.C176W |
Missense |
3/16 |
- |
1 |
2-47637395-G-A |
c.529G>A |
p.E177K |
Missense |
3/16 |
- |
3 |
2-47637395-G-C |
c.529G>C |
p.E177Q |
Missense |
3/16 |
- |
1 |
2-47637396-GAA-G |
c.530_531del |
p.E177Vfs*3 |
Frameshift |
3/16 |
- |
3 |
2-47637396-A-C |
c.530A>C |
p.E177A |
Missense |
3/16 |
- |
1 |
2-47637396-A-G |
c.530A>G |
p.E177G |
Missense |
3/16 |
- |
1 |
2-47637396-A-T |
c.530A>T |
p.E177V |
Missense |
3/16 |
- |
1 |
2-47637397-A-C |
c.531A>C |
p.E177D |
Missense |
3/16 |
- |
1 |
2-47637397-A-T |
c.531A>T |
p.E177D |
Missense |
3/16 |
- |
1 |
2-47637398-T-A |
c.532T>A |
p.F178I |
Missense |
3/16 |
- |
1 |
2-47637398-T-C |
c.532T>C |
p.F178L |
Missense |
3/16 |
- |
1 |
2-47637398-T-G |
c.532T>G |
p.F178V |
Missense |
3/16 |
- |
1 |
2-47637399-T-A |
c.533T>A |
p.F178Y |
Missense |
3/16 |
- |
1 |
2-47637399-T-C |
c.533T>C |
p.F178S |
Missense |
3/16 |
- |
1 |
2-47637399-T-G |
c.533T>G |
p.F178C |
Missense |
3/16 |
- |
1 |
2-47637400-C-A |
c.534C>A |
p.F178L |
Missense |
3/16 |
- |
1 |
2-47637400-C-G |
c.534C>G |
p.F178L |
Missense |
3/16 |
- |
1 |
2-47637401-C-A |
c.535C>A |
p.P179T |
Missense |
3/16 |
- |
1 |
2-47637401-C-G |
c.535C>G |
p.P179A |
Missense |
3/16 |
- |
1 |
2-47637401-C-T |
c.535C>T |
p.P179S |
Missense |
3/16 |
- |
2 |
2-47637402-C-A |
c.536C>A |
p.P179H |
Missense |
3/16 |
- |
1 |
2-47637402-C-G |
c.536C>G |
p.P179R |
Missense |
3/16 |
- |
1 |
2-47637402-C-T |
c.536C>T |
p.P179L |
Missense |
3/16 |
- |
1 |
2-47637404-G-T |
c.538G>T |
p.D180Y |
Missense |
3/16 |
- |
1 |
2-47637405-A-T |
c.539A>T |
p.D180V |
Missense |
3/16 |
- |
2 |
2-47637405-A-C |
c.539A>C |
p.D180A |
Missense |
3/16 |
- |
1 |
2-47637405-A-G |
c.539A>G |
p.D180G |
Missense |
3/16 |
- |
1 |
2-47637406-T-A |
c.540T>A |
p.D180E |
Missense |
3/16 |
- |
1 |
2-47637406-T-G |
c.540T>G |
p.D180E |
Missense |
3/16 |
- |
1 |
2-47637407-A-C |
c.541A>C |
p.N181H |
Missense |
3/16 |
- |
1 |
2-47637407-A-G |
c.541A>G |
p.N181D |
Missense |
3/16 |
- |
1 |
2-47637407-A-T |
c.541A>T |
p.N181Y |
Missense |
3/16 |
- |
1 |
2-47637408-A-C |
c.542A>C |
p.N181T |
Missense |
3/16 |
- |
1 |
2-47637408-A-G |
c.542A>G |
p.N181S |
Missense |
3/16 |
- |
1 |
2-47637408-A-T |
c.542A>T |
p.N181I |
Missense |
3/16 |
- |
1 |
2-47637410-G-T |
c.544G>T |
p.D182Y |
Missense |
3/16 |
- |
1 |
2-47637411-A-C |
c.545A>C |
p.D182A |
Missense |
3/16 |
- |
1 |
2-47637411-A-G |
c.545A>G |
p.D182G |
Missense |
3/16 |
- |
1 |
2-47637411-A-T |
c.545A>T |
p.D182V |
Missense |
3/16 |
- |
1 |
2-47637411-GATCAGTTC-G |
c.545_552del |
p.D182Vfs*4 |
Frameshift |
3/16 |
- |
1 |
2-47637412-T-A |
c.546T>A |
p.D182E |
Missense |
3/16 |
- |
1 |
2-47637412-T-G |
c.546T>G |
p.D182E |
Missense |
3/16 |
- |
1 |
2-47637413-C-A |
c.547C>A |
p.Q183K |
Missense |
3/16 |
- |
1 |
2-47637413-C-G |
c.547C>G |
p.Q183E |
Missense |
3/16 |
- |
1 |
2-47637413-C-T |
c.547C>T |
p.Q183* |
Nonsense |
3/16 |
- |
1 |
2-47637414-A-C |
c.548A>C |
p.Q183P |
Missense |
3/16 |
- |
1 |
2-47637414-A-G |
c.548A>G |
p.Q183R |
Missense |
3/16 |
- |
1 |
2-47637414-A-T |
c.548A>T |
p.Q183L |
Missense |
3/16 |
- |
1 |
2-47637415-G-C |
c.549G>C |
p.Q183H |
Missense |
3/16 |
- |
1 |
2-47637415-G-T |
c.549G>T |
p.Q183H |
Missense |
3/16 |
- |
1 |
2-47637416-T-A |
c.550T>A |
p.F184I |
Missense |
3/16 |
- |
1 |
2-47637416-T-C |
c.550T>C |
p.F184L |
Missense |
3/16 |
- |
1 |
2-47637416-T-G |
c.550T>G |
p.F184V |
Missense |
3/16 |
- |
1 |
2-47637415-GT-G |
c.551del |
p.F184Sfs*30 |
Frameshift |
3/16 |
- |
1 |
2-47637417-T-A |
c.551T>A |
p.F184Y |
Missense |
3/16 |
- |
1 |
2-47637417-T-C |
c.551T>C |
p.F184S |
Missense |
3/16 |
- |
1 |
2-47637417-T-G |
c.551T>G |
p.F184C |
Missense |
3/16 |
- |
1 |
2-47637418-C-A |
c.552C>A |
p.F184L |
Missense |
3/16 |
- |
1 |
2-47637418-C-G |
c.552C>G |
p.F184L |
Missense |
3/16 |
- |
1 |
2-47637419-T-A |
c.553T>A |
p.S185T |
Missense |
3/16 |
- |
1 |
2-47637419-T-C |
c.553T>C |
p.S185P |
Missense |
3/16 |
- |
1 |
2-47637419-T-G |
c.553T>G |
p.S185A |
Missense |
3/16 |
- |
1 |
2-47637420-C-A |
c.554C>A |
p.S185Y |
Missense |
3/16 |
- |
1 |
2-47637420-C-G |
c.554C>G |
p.S185C |
Missense |
3/16 |
- |
1 |
2-47637420-C-T |
c.554C>T |
p.S185F |
Missense |
3/16 |
- |
1 |
2-47637422-A-C |
c.556A>C |
p.N186H |
Missense |
3/16 |
- |
1 |
2-47637422-A-G |
c.556A>G |
p.N186D |
Missense |
3/16 |
- |
1 |
2-47637422-A-T |
c.556A>T |
p.N186Y |
Missense |
3/16 |
- |
1 |
2-47637423-A-G |
c.557A>G |
p.N186S |
Missense |
3/16 |
- |
5 |
2-47637423-A-C |
c.557A>C |
p.N186T |
Missense |
3/16 |
- |
1 |
2-47637423-A-T |
c.557A>T |
p.N186I |
Missense |
3/16 |
- |
1 |
2-47637424-T-A |
c.558T>A |
p.N186K |
Missense |
3/16 |
- |
1 |
2-47637424-T-G |
c.558T>G |
p.N186K |
Missense |
3/16 |
- |
1 |
2-47637425-C-A |
c.559C>A |
p.L187I |
Missense |
3/16 |
- |
2 |
2-47637425-C-G |
c.559C>G |
p.L187V |
Missense |
3/16 |
- |
1 |
2-47637425-C-T |
c.559C>T |
p.L187F |
Missense |
3/16 |
- |
1 |
2-47637426-T-C |
c.560T>C |
p.L187P |
Missense |
3/16 |
- |
6 |
2-47637426-T-G |
c.560T>G |
p.L187R |
Missense |
3/16 |
- |
3 |
2-47637426-T-A |
c.560T>A |
p.L187H |
Missense |
3/16 |
- |
1 |
2-47637428-G-A |
c.562G>A |
p.E188K |
Missense |
3/16 |
- |
1 |
2-47637428-G-C |
c.562G>C |
p.E188Q |
Missense |
3/16 |
- |
2 |
2-47637429-A-C |
c.563A>C |
p.E188A |
Missense |
3/16 |
- |
1 |
2-47637429-A-G |
c.563A>G |
p.E188G |
Missense |
3/16 |
- |
1 |
2-47637429-A-T |
c.563A>T |
p.E188V |
Missense |
3/16 |
- |
1 |
2-47637430-G-C |
c.564G>C |
p.E188D |
Missense |
3/16 |
- |
1 |
2-47637430-G-T |
c.564G>T |
p.E188D |
Missense |
3/16 |
- |
1 |
2-47637431-G-A |
c.565G>A |
p.A189T |
Missense |
3/16 |
- |
2 |
2-47637431-G-C |
c.565G>C |
p.A189P |
Missense |
3/16 |
- |
1 |
2-47637431-G-T |
c.565G>T |
p.A189S |
Missense |
3/16 |
- |
1 |
2-47637432-C-A |
c.566C>A |
p.A189D |
Missense |
3/16 |
- |
1 |
2-47637432-C-G |
c.566C>G |
p.A189G |
Missense |
3/16 |
- |
1 |
2-47637432-C-T |
c.566C>T |
p.A189V |
Missense |
3/16 |
- |
1 |
2-47637434-C-T |
c.568C>T |
p.L190F |
Missense |
3/16 |
- |
3 |
2-47637434-C-A |
c.568C>A |
p.L190I |
Missense |
3/16 |
- |
1 |
2-47637434-C-G |
c.568C>G |
p.L190V |
Missense |
3/16 |
- |
1 |
2-47637434-CT-AC |
c.568_569delinsAC |
p.L190T |
Missense |
3/16 |
- |
1 |
2-47637435-T-A |
c.569T>A |
p.L190H |
Missense |
3/16 |
- |
1 |
2-47637435-T-C |
c.569T>C |
p.L190P |
Missense |
3/16 |
- |
1 |
2-47637435-T-G |
c.569T>G |
p.L190R |
Missense |
3/16 |
- |
1 |
2-47637433-TCTC-T |
c.571_573del |
p.L191del |
InFrameDeletion |
3/16 |
- |
5 |
2-47637437-C-A |
c.571C>A |
p.L191I |
Missense |
3/16 |
- |
1 |
2-47637437-C-G |
c.571C>G |
p.L191V |
Missense |
3/16 |
- |
1 |
2-47637437-C-T |
c.571C>T |
p.L191F |
Missense |
3/16 |
- |
1 |
2-47637438-T-A |
c.572T>A |
p.L191H |
Missense |
3/16 |
- |
1 |
2-47637438-T-C |
c.572T>C |
p.L191P |
Missense |
3/16 |
- |
1 |
2-47637438-T-G |
c.572T>G |
p.L191R |
Missense |
3/16 |
- |
1 |
2-47637439-C-T |
c.573C>T |
p.L191= |
Synonymous |
3/16 |
- |
1 |
2-47637440-A-C |
c.574A>C |
p.I192L |
Missense |
3/16 |
- |
1 |
2-47637440-A-G |
c.574A>G |
p.I192V |
Missense |
3/16 |
- |
1 |
2-47637440-A-T |
c.574A>T |
p.I192F |
Missense |
3/16 |
- |
1 |
2-47637441-T-A |
c.575T>A |
p.I192N |
Missense |
3/16 |
- |
1 |
2-47637441-T-C |
c.575T>C |
p.I192T |
Missense |
3/16 |
- |
1 |
2-47637441-T-G |
c.575T>G |
p.I192S |
Missense |
3/16 |
- |
1 |
2-47637442-C-G |
c.576C>G |
p.I192M |
Missense |
3/16 |
- |
1 |
2-47637443-C-A |
c.577C>A |
p.Q193K |
Missense |
3/16 |
- |
1 |
2-47637443-C-G |
c.577C>G |
p.Q193E |
Missense |
3/16 |
- |
1 |
2-47637444-A-C |
c.578A>C |
p.Q193P |
Missense |
3/16 |
- |
1 |
2-47637444-A-G |
c.578A>G |
p.Q193R |
Missense |
3/16 |
- |
1 |
2-47637444-A-T |
c.578A>T |
p.Q193L |
Missense |
3/16 |
- |
1 |
2-47637445-G-C |
c.579G>C |
p.Q193H |
Missense |
3/16 |
- |
1 |
2-47637445-G-T |
c.579G>T |
p.Q193H |
Missense |
3/16 |
- |
1 |
2-47637446-A-C |
c.580A>C |
p.I194L |
Missense |
3/16 |
- |
1 |
2-47637446-A-G |
c.580A>G |
p.I194V |
Missense |
3/16 |
- |
1 |
2-47637446-A-T |
c.580A>T |
p.I194F |
Missense |
3/16 |
- |
1 |
2-47637447-T-A |
c.581T>A |
p.I194N |
Missense |
3/16 |
- |
1 |
2-47637447-T-C |
c.581T>C |
p.I194T |
Missense |
3/16 |
- |
2 |
2-47637447-T-G |
c.581T>G |
p.I194S |
Missense |
3/16 |
- |
1 |
2-47637448-T-G |
c.582T>G |
p.I194M |
Missense |
3/16 |
- |
1 |
2-47637449-G-A |
c.583G>A |
p.G195R |
Missense |
3/16 |
- |
2 |
2-47637449-G-C |
c.583G>C |
p.G195R |
Missense |
3/16 |
- |
1 |
2-47637450-G-C |
c.584G>C |
p.G195A |
Missense |
3/16 |
- |
2 |
2-47637450-G-A |
c.584G>A |
p.G195E |
Missense |
3/16 |
- |
1 |
2-47637450-G-T |
c.584G>T |
p.G195V |
Missense |
3/16 |
- |
1 |
2-47637452-C-A |
c.586C>A |
p.P196T |
Missense |
3/16 |
- |
1 |
2-47637452-C-G |
c.586C>G |
p.P196A |
Missense |
3/16 |
- |
1 |
2-47637452-C-T |
c.586C>T |
p.P196S |
Missense |
3/16 |
- |
1 |
2-47637453-C-A |
c.587C>A |
p.P196Q |
Missense |
3/16 |
- |
3 |
2-47637453-C-T |
c.587C>T |
p.P196L |
Missense |
3/16 |
- |
2 |
2-47637453-C-G |
c.587C>G |
p.P196R |
Missense |
3/16 |
- |
1 |
2-47637455-A-G |
c.589A>G |
p.K197E |
Missense |
3/16 |
- |
1 |
2-47637456-A-C |
c.590A>C |
p.K197T |
Missense |
3/16 |
- |
1 |
2-47637456-A-G |
c.590A>G |
p.K197R |
Missense |
3/16 |
- |
1 |
2-47637456-A-T |
c.590A>T |
p.K197M |
Missense |
3/16 |
- |
1 |
2-47637457-G-C |
c.591G>C |
p.K197N |
Missense |
3/16 |
- |
1 |
2-47637457-G-T |
c.591G>T |
p.K197N |
Missense |
3/16 |
- |
1 |
2-47637456-A-AG |
c.592dup |
p.E198Gfs*34 |
Frameshift |
3/16 |
- |
1 |
2-47637458-G-A |
c.592G>A |
p.E198K |
Missense |
3/16 |
- |
2 |
2-47637459-A-G |
c.593A>G |
p.E198G |
Missense |
3/16 |
- |
6 |
2-47637459-A-C |
c.593A>C |
p.E198A |
Missense |
3/16 |
- |
1 |
2-47637459-A-T |
c.593A>T |
p.E198V |
Missense |
3/16 |
- |
1 |
2-47637460-A-C |
c.594A>C |
p.E198D |
Missense |
3/16 |
- |
1 |
2-47637460-A-T |
c.594A>T |
p.E198D |
Missense |
3/16 |
- |
1 |
2-47637460-A-G |
c.594A>G |
p.E198= |
Synonymous |
3/16 |
- |
1 |
2-47637461-T-C |
c.595T>C |
p.C199R |
Missense |
3/16 |
- |
10 |
2-47637461-T-G |
c.595T>G |
p.C199G |
Missense |
3/16 |
- |
2 |
2-47637461-T-A |
c.595T>A |
p.C199S |
Missense |
3/16 |
- |
1 |
2-47637461-TG-CA |
c.595_596inv |
p.C199H |
Missense |
3/16 |
- |
1 |
2-47637462-TG-T |
c.596del |
p.C199Lfs*15 |
Frameshift |
3/16 |
- |
2 |
2-47637462-G-C |
c.596G>C |
p.C199S |
Missense |
3/16 |
- |
1 |
2-47637462-G-A |
c.596G>A |
p.C199Y |
Missense |
3/16 |
- |
1 |
2-47637463-T-G |
c.597T>G |
p.C199W |
Missense |
3/16 |
- |
1 |
2-47637464-G-A |
c.598G>A |
p.V200I |
Missense |
3/16 |
- |
1 |
2-47637464-G-C |
c.598G>C |
p.V200L |
Missense |
3/16 |
- |
1 |
2-47637464-G-T |
c.598G>T |
p.V200F |
Missense |
3/16 |
- |
1 |
2-47637465-T-A |
c.599T>A |
p.V200D |
Missense |
3/16 |
- |
3 |
2-47637465-T-C |
c.599T>C |
p.V200A |
Missense |
3/16 |
- |
1 |
2-47637465-T-G |
c.599T>G |
p.V200G |
Missense |
3/16 |
- |
1 |
2-47637467-T-A |
c.601T>A |
p.L201I |
Missense |
3/16 |
- |
1 |
2-47637467-T-G |
c.601T>G |
p.L201V |
Missense |
3/16 |
- |
1 |
2-47637464-G-GT |
c.602dup |
p.L201Ffs*31 |
Frameshift |
3/16 |
- |
1 |
2-47637468-T-C |
c.602T>C |
p.L201S |
Missense |
3/16 |
- |
1 |
2-47637469-A-T |
c.603A>T |
p.L201F |
Missense |
3/16 |
- |
2 |
2-47637469-A-C |
c.603A>C |
p.L201F |
Missense |
3/16 |
- |
2 |
2-47637470-C-A |
c.604C>A |
p.P202T |
Missense |
3/16 |
- |
1 |
2-47637470-C-G |
c.604C>G |
p.P202A |
Missense |
3/16 |
- |
1 |
2-47637470-C-T |
c.604C>T |
p.P202S |
Missense |
3/16 |
- |
1 |
2-47637471-C-A |
c.605C>A |
p.P202H |
Missense |
3/16 |
- |
1 |
2-47637471-C-G |
c.605C>G |
p.P202R |
Missense |
3/16 |
- |
1 |
2-47637471-C-T |
c.605C>T |
p.P202L |
Missense |
3/16 |
- |
1 |
2-47637473-G-A |
c.607G>A |
p.G203R |
Missense |
3/16 |
- |
2 |
2-47637473-G-C |
c.607G>C |
p.G203R |
Missense |
3/16 |
- |
2 |
2-47637474-G-C |
c.608G>C |
p.G203A |
Missense |
3/16 |
- |
1 |
2-47637474-G-T |
c.608G>T |
p.G203V |
Missense |
3/16 |
- |
1 |
2-47637476-G-T |
c.610G>T |
p.G204* |
Nonsense |
3/16 |
- |
5 |
2-47637476-G-A |
c.610G>A |
p.G204R |
Missense |
3/16 |
- |
1 |
2-47637476-G-C |
c.610G>C |
p.G204R |
Missense |
3/16 |
- |
1 |
2-47637477-G-C |
c.611G>C |
p.G204A |
Missense |
3/16 |
- |
2 |
2-47637477-G-T |
c.611G>T |
p.G204V |
Missense |
3/16 |
- |
1 |
2-47637479-G-A |
c.613G>A |
p.E205K |
Missense |
3/16 |
- |
2 |
2-47637479-G-C |
c.613G>C |
p.E205Q |
Missense |
3/16 |
- |
4 |
2-47637479-G-T |
c.613G>T |
p.E205* |
Nonsense |
3/16 |
- |
2 |
2-47637480-A-C |
c.614A>C |
p.E205A |
Missense |
3/16 |
- |
1 |
2-47637480-A-G |
c.614A>G |
p.E205G |
Missense |
3/16 |
- |
1 |
2-47637480-A-T |
c.614A>T |
p.E205V |
Missense |
3/16 |
- |
1 |
2-47637481-G-C |
c.615G>C |
p.E205D |
Missense |
3/16 |
- |
1 |
2-47637481-G-T |
c.615G>T |
p.E205D |
Missense |
3/16 |
- |
1 |
2-47637482-A-C |
c.616A>C |
p.T206P |
Missense |
3/16 |
- |
1 |
2-47637482-A-G |
c.616A>G |
p.T206A |
Missense |
3/16 |
- |
1 |
2-47637482-A-T |
c.616A>T |
p.T206S |
Missense |
3/16 |
- |
1 |
2-47637483-C-T |
c.617C>T |
p.T206I |
Missense |
3/16 |
- |
2 |
2-47637483-C-G |
c.617C>G |
p.T206S |
Missense |
3/16 |
- |
1 |
2-47637483-C-A |
c.617C>A |
p.T206N |
Missense |
3/16 |
- |
1 |
2-47637485-G-C |
c.619G>C |
p.A207P |
Missense |
3/16 |
- |
2 |
2-47637485-G-A |
c.619G>A |
p.A207T |
Missense |
3/16 |
- |
1 |
2-47637485-G-T |
c.619G>T |
p.A207S |
Missense |
3/16 |
- |
2 |
2-47637486-C-A |
c.620C>A |
p.A207D |
Missense |
3/16 |
- |
1 |
2-47637486-C-G |
c.620C>G |
p.A207G |
Missense |
3/16 |
- |
1 |
2-47637486-C-T |
c.620C>T |
p.A207V |
Missense |
3/16 |
- |
1 |
2-47637488-G-A |
c.622G>A |
p.G208R |
Missense |
3/16 |
- |
1 |
2-47637488-G-C |
c.622G>C |
p.G208R |
Missense |
3/16 |
- |
1 |
2-47637488-G-T |
c.622G>T |
p.G208* |
Nonsense |
3/16 |
- |
1 |
2-47637489-G-A |
c.623G>A |
p.G208E |
Missense |
3/16 |
- |
1 |
2-47637489-G-C |
c.623G>C |
p.G208A |
Missense |
3/16 |
- |
1 |
2-47637489-G-T |
c.623G>T |
p.G208V |
Missense |
3/16 |
- |
1 |
2-47637491-G-A |
c.625G>A |
p.D209N |
Missense |
3/16 |
- |
1 |
2-47637491-G-C |
c.625G>C |
p.D209H |
Missense |
3/16 |
- |
1 |
2-47637491-G-T |
c.625G>T |
p.D209Y |
Missense |
3/16 |
- |
1 |
2-47637492-A-C |
c.626A>C |
p.D209A |
Missense |
3/16 |
- |
1 |
2-47637492-A-G |
c.626A>G |
p.D209G |
Missense |
3/16 |
- |
1 |
2-47637492-A-T |
c.626A>T |
p.D209V |
Missense |
3/16 |
- |
1 |
2-47637493-C-A |
c.627C>A |
p.D209E |
Missense |
3/16 |
- |
1 |
2-47637493-C-G |
c.627C>G |
p.D209E |
Missense |
3/16 |
- |
1 |
2-47637494-A-C |
c.628A>C |
p.M210L |
Missense |
3/16 |
- |
1 |
2-47637494-A-T |
c.628A>T |
p.M210L |
Missense |
3/16 |
- |
1 |
2-47637494-A-G |
c.628A>G |
p.M210V |
Missense |
3/16 |
- |
1 |
2-47637495-T-A |
c.629T>A |
p.M210K |
Missense |
3/16 |
- |
1 |
2-47637495-T-C |
c.629T>C |
p.M210T |
Missense |
3/16 |
- |
1 |
2-47637495-T-G |
c.629T>G |
p.M210R |
Missense |
3/16 |
- |
1 |
2-47637496-G-C |
c.630G>C |
p.M210I |
Missense |
3/16 |
- |
2 |
2-47637496-G-A |
c.630G>A |
p.M210I |
Missense |
3/16 |
- |
2 |
2-47637496-G-T |
c.630G>T |
p.M210I |
Missense |
3/16 |
- |
2 |
2-47637497-G-A |
c.631G>A |
p.G211R |
Missense |
3/16 |
- |
1 |
2-47637497-G-C |
c.631G>C |
p.G211R |
Missense |
3/16 |
- |
1 |
2-47637498-G-A |
c.632G>A |
p.G211E |
Missense |
3/16 |
- |
1 |
2-47637498-G-C |
c.632G>C |
p.G211A |
Missense |
3/16 |
- |
1 |
2-47637498-G-T |
c.632G>T |
p.G211V |
Missense |
3/16 |
- |
1 |
2-47637495-T-TG |
c.633dup |
p.K212Efs*20 |
Frameshift |
3/16 |
- |
2 |
2-47637500-A-C |
c.634A>C |
p.K212Q |
Missense |
3/16 |
- |
1 |
2-47637500-A-G |
c.634A>G |
p.K212E |
Missense |
3/16 |
- |
1 |
2-47637501-A-C |
c.635A>C |
p.K212T |
Missense |
3/16 |
- |
1 |
2-47637501-A-G |
c.635A>G |
p.K212R |
Missense |
3/16 |
- |
1 |
2-47637501-A-T |
c.635A>T |
p.K212I |
Missense |
3/16 |
- |
1 |
2-47637503-C-A |
c.637C>A |
p.L213M |
Missense |
3/16 |
- |
1 |
2-47637503-C-G |
c.637C>G |
p.L213V |
Missense |
3/16 |
- |
2 |
2-47637504-T-A |
c.638T>A |
p.L213Q |
Missense |
3/16 |
- |
2 |
2-47637504-T-C |
c.638T>C |
p.L213P |
Missense |
3/16 |
- |
1 |
2-47637504-T-G |
c.638T>G |
p.L213R |
Missense |
3/16 |
- |
1 |
2-47637503-C-CT |
c.638dup |
p.R214Efs*18 |
Frameshift |
3/16 |
- |
2 |
2-47637504-CTG-C |
c.638_639del |
p.L213Qfs*18 |
Frameshift |
3/16 |
- |
1 |
2-47637506-A-G |
c.640A>G |
p.R214G |
Missense |
3/16 |
- |
1 |
2-47637506-AGA-TGT |
c.640_642delinsTGT |
p.R214C |
Missense |
3/16 |
- |
1 |
2-47637507-G-T |
c.641G>T |
p.R214I |
Missense |
3/16 |
- |
5 |
2-47637507-G-A |
c.641G>A |
p.R214K |
Missense |
3/16 |
- |
1 |
2-47637507-G-C |
c.641G>C |
p.R214T |
Missense |
3/16 |
- |
1 |
2-47637508-A-C |
c.642A>C |
p.R214S |
Missense |
3/16 |
- |
1 |
2-47637508-A-T |
c.642A>T |
p.R214S |
Missense |
3/16 |
- |
1 |
2-47637505-GAGAC-G |
c.642_645del |
p.Q215* |
SpliceDonorDeletion |
3/16 |
- |
2 |
2-47637509-C-A |
c.643C>A |
p.Q215K |
Missense |
3/16 |
- |
1 |
2-47637509-C-G |
c.643C>G |
p.Q215E |
Missense |
3/16 |
- |
1 |
2-47637509-C-T |
c.643C>T |
p.Q215* |
Nonsense |
3/16 |
- |
1 |
2-47637512-G-A |
c.645+1G>A |
- |
IntronicSNV |
- |
3/15 |
4 |
2-47637514-A-G |
c.645+3A>G |
- |
IntronicSNV |
- |
3/15 |
1 |
2-47639553-A-T |
c.646A>T |
p.I216L |
Missense |
4/16 |
- |
1 |
2-47639553-A-G |
c.646A>G |
p.I216V |
Missense |
4/16 |
- |
1 |
2-47639553-A-C |
c.646A>C |
p.I216L |
Missense |
4/16 |
- |
1 |
2-47639553-A-AT |
c.647dup |
p.I217Nfs*15 |
SpliceAcceptorInsertion |
4/16 |
- |
1 |
2-47639554-T-TA |
c.649dup |
p.I217Nfs*15 |
Frameshift |
4/16 |
- |
1 |
2-47639556-A-C |
c.649A>C |
p.I217L |
Missense |
4/16 |
- |
1 |
2-47639556-A-G |
c.649A>G |
p.I217V |
Missense |
4/16 |
- |
1 |
2-47639556-A-T |
c.649A>T |
p.I217F |
Missense |
4/16 |
- |
1 |
2-47639556-AATT-A |
c.649_651del |
p.I217del |
InFrameDeletion |
4/16 |
- |
1 |
2-47639557-T-A |
c.650T>A |
p.I217N |
Missense |
4/16 |
- |
1 |
2-47639557-T-C |
c.650T>C |
p.I217T |
Missense |
4/16 |
- |
1 |
2-47639557-T-G |
c.650T>G |
p.I217S |
Missense |
4/16 |
- |
1 |
2-47639558-T-G |
c.651T>G |
p.I217M |
Missense |
4/16 |
- |
1 |
2-47639556-A-AT |
c.651dup |
p.Q218Sfs*14 |
Frameshift |
4/16 |
- |
1 |
2-47639559-C-A |
c.652C>A |
p.Q218K |
Missense |
4/16 |
- |
1 |
2-47639559-C-G |
c.652C>G |
p.Q218E |
Missense |
4/16 |
- |
1 |
2-47639560-A-C |
c.653A>C |
p.Q218P |
Missense |
4/16 |
- |
1 |
2-47639560-A-G |
c.653A>G |
p.Q218R |
Missense |
4/16 |
- |
1 |
2-47639560-A-T |
c.653A>T |
p.Q218L |
Missense |
4/16 |
- |
1 |
2-47639561-A-C |
c.654A>C |
p.Q218H |
Missense |
4/16 |
- |
1 |
2-47639561-A-T |
c.654A>T |
p.Q218H |
Missense |
4/16 |
- |
1 |
2-47639562-A-T |
c.655A>T |
p.R219* |
Nonsense |
4/16 |
- |
1 |
2-47639562-A-G |
c.655A>G |
p.R219G |
Missense |
4/16 |
- |
2 |
2-47639563-G-A |
c.656G>A |
p.R219K |
Missense |
4/16 |
- |
1 |
2-47639563-G-C |
c.656G>C |
p.R219T |
Missense |
4/16 |
- |
1 |
2-47639563-G-T |
c.656G>T |
p.R219I |
Missense |
4/16 |
- |
1 |
2-47639564-A-C |
c.657A>C |
p.R219S |
Missense |
4/16 |
- |
1 |
2-47639564-A-T |
c.657A>T |
p.R219S |
Missense |
4/16 |
- |
1 |
2-47639565-G-T |
c.658G>T |
p.G220* |
Nonsense |
4/16 |
- |
1 |
2-47639565-G-A |
c.658G>A |
p.G220R |
Missense |
4/16 |
- |
1 |
2-47639565-G-C |
c.658G>C |
p.G220R |
Missense |
4/16 |
- |
1 |
2-47639566-G-A |
c.659G>A |
p.G220E |
Missense |
4/16 |
- |
1 |
2-47639566-G-C |
c.659G>C |
p.G220A |
Missense |
4/16 |
- |
1 |
2-47639566-G-T |
c.659G>T |
p.G220V |
Missense |
4/16 |
- |
1 |
2-47639568-GGA-AGC |
c.661_663delinsAGC |
p.G221S |
Missense |
4/16 |
- |
1 |
2-47639568-G-A |
c.661G>A |
p.G221R |
Missense |
4/16 |
- |
1 |
2-47639568-G-C |
c.661G>C |
p.G221R |
Missense |
4/16 |
- |
1 |
2-47639569-G-A |
c.662G>A |
p.G221E |
Missense |
4/16 |
- |
1 |
2-47639569-G-C |
c.662G>C |
p.G221A |
Missense |
4/16 |
- |
1 |
2-47639569-G-T |
c.662G>T |
p.G221V |
Missense |
4/16 |
- |
2 |
2-47639570-A-G |
c.663A>G |
p.G221= |
Synonymous |
4/16 |
- |
1 |
2-47639571-A-C |
c.664A>C |
p.I222L |
Missense |
4/16 |
- |
1 |
2-47639571-A-G |
c.664A>G |
p.I222V |
Missense |
4/16 |
- |
1 |
2-47639571-A-T |
c.664A>T |
p.I222F |
Missense |
4/16 |
- |
1 |
2-47639572-T-A |
c.665T>A |
p.I222N |
Missense |
4/16 |
- |
1 |
2-47639572-T-C |
c.665T>C |
p.I222T |
Missense |
4/16 |
- |
1 |
2-47639572-T-G |
c.665T>G |
p.I222S |
Missense |
4/16 |
- |
1 |
2-47639571-AT-A |
c.666del |
p.L223* |
Frameshift |
4/16 |
- |
1 |
2-47639573-T-G |
c.666T>G |
p.I222M |
Missense |
4/16 |
- |
1 |
2-47639574-C-G |
c.667C>G |
p.L223V |
Missense |
4/16 |
- |
1 |
2-47639574-CT-GC |
c.667_668delinsGC |
p.L223A |
Missense |
4/16 |
- |
1 |
2-47639575-T-C |
c.668T>C |
p.L223P |
Missense |
4/16 |
- |
1 |
2-47639575-T-G |
c.668T>G |
p.L223R |
Missense |
4/16 |
- |
1 |
2-47639577-A-C |
c.670A>C |
p.I224L |
Missense |
4/16 |
- |
2 |
2-47639577-A-G |
c.670A>G |
p.I224V |
Missense |
4/16 |
- |
1 |
2-47639577-A-T |
c.670A>T |
p.I224F |
Missense |
4/16 |
- |
1 |
2-47639578-T-A |
c.671T>A |
p.I224N |
Missense |
4/16 |
- |
1 |
2-47639578-T-C |
c.671T>C |
p.I224T |
Missense |
4/16 |
- |
1 |
2-47639578-T-G |
c.671T>G |
p.I224S |
Missense |
4/16 |
- |
1 |
2-47639579-C-G |
c.672C>G |
p.I224M |
Missense |
4/16 |
- |
1 |
2-47639580-ACA-TGT |
c.673_675inv |
p.T225C |
Missense |
4/16 |
- |
2 |
2-47639580-A-C |
c.673A>C |
p.T225P |
Missense |
4/16 |
- |
1 |
2-47639580-A-G |
c.673A>G |
p.T225A |
Missense |
4/16 |
- |
1 |
2-47639580-A-T |
c.673A>T |
p.T225S |
Missense |
4/16 |
- |
1 |
2-47639581-C-G |
c.674C>G |
p.T225R |
Missense |
4/16 |
- |
1 |
2-47639581-C-T |
c.674C>T |
p.T225I |
Missense |
4/16 |
- |
1 |
2-47639583-G-A |
c.676G>A |
p.E226K |
Missense |
4/16 |
- |
1 |
2-47639583-G-C |
c.676G>C |
p.E226Q |
Missense |
4/16 |
- |
1 |
2-47639583-G-T |
c.676G>T |
p.E226* |
Nonsense |
4/16 |
- |
1 |
2-47639584-A-C |
c.677A>C |
p.E226A |
Missense |
4/16 |
- |
1 |
2-47639584-A-G |
c.677A>G |
p.E226G |
Missense |
4/16 |
- |
1 |
2-47639584-A-T |
c.677A>T |
p.E226V |
Missense |
4/16 |
- |
1 |
2-47639585-A-AT |
c.678_679insT |
p.R227* |
Nonsense |
4/16 |
- |
1 |
2-47639585-A-C |
c.678A>C |
p.E226D |
Missense |
4/16 |
- |
1 |
2-47639585-A-T |
c.678A>T |
p.E226D |
Missense |
4/16 |
- |
1 |
2-47639583-GA-G |
c.679del |
p.R227Efs*19 |
Frameshift |
4/16 |
- |
1 |
2-47639586-AGAA-TTCCT |
c.679_682delinsTTCCT |
p.R227Ffs*5 |
Frameshift |
4/16 |
- |
1 |
2-47639586-A-G |
c.679A>G |
p.R227G |
Missense |
4/16 |
- |
1 |
2-47639586-A-T |
c.679A>T |
p.R227* |
Nonsense |
4/16 |
- |
1 |
2-47639586-AGA-TGG |
c.679_681delinsTGG |
p.R227W |
Missense |
4/16 |
- |
1 |
2-47639587-G-A |
c.680G>A |
p.R227K |
Missense |
4/16 |
- |
1 |
2-47639587-G-C |
c.680G>C |
p.R227T |
Missense |
4/16 |
- |
1 |
2-47639587-G-T |
c.680G>T |
p.R227I |
Missense |
4/16 |
- |
1 |
2-47639581-CAGAA-C |
c.680_683del |
p.R227Kfs*18 |
Frameshift |
4/16 |
- |
2 |
2-47639585-AAG-A |
c.680_681del |
p.R227Kfs*4 |
Frameshift |
4/16 |
- |
1 |
2-47639588-A-C |
c.681A>C |
p.R227S |
Missense |
4/16 |
- |
1 |
2-47639588-A-T |
c.681A>T |
p.R227S |
Missense |
4/16 |
- |
1 |
2-47639589-A-G |
c.682A>G |
p.K228E |
Missense |
4/16 |
- |
4 |
2-47639589-A-C |
c.682A>C |
p.K228Q |
Missense |
4/16 |
- |
1 |
2-47639590-A-C |
c.683A>C |
p.K228T |
Missense |
4/16 |
- |
1 |
2-47639590-A-G |
c.683A>G |
p.K228R |
Missense |
4/16 |
- |
1 |
2-47639590-A-T |
c.683A>T |
p.K228I |
Missense |
4/16 |
- |
1 |
2-47639591-A-C |
c.684A>C |
p.K228N |
Missense |
4/16 |
- |
1 |
2-47639591-A-T |
c.684A>T |
p.K228N |
Missense |
4/16 |
- |
1 |
2-47639592-A-C |
c.685A>C |
p.K229Q |
Missense |
4/16 |
- |
1 |
2-47639593-A-C |
c.686A>C |
p.K229T |
Missense |
4/16 |
- |
2 |
2-47639587-GA-G |
c.687del |
p.A230Lfs*16 |
Frameshift |
4/16 |
- |
4 |
2-47639594-A-C |
c.687A>C |
p.K229N |
Missense |
4/16 |
- |
1 |
2-47639594-A-T |
c.687A>T |
p.K229N |
Missense |
4/16 |
- |
1 |
2-47639595-G-T |
c.688G>T |
p.A230S |
Missense |
4/16 |
- |
2 |
2-47639595-G-A |
c.688G>A |
p.A230T |
Missense |
4/16 |
- |
1 |
2-47639595-G-C |
c.688G>C |
p.A230P |
Missense |
4/16 |
- |
1 |
2-47639596-C-A |
c.689C>A |
p.A230D |
Missense |
4/16 |
- |
1 |
2-47639596-C-G |
c.689C>G |
p.A230G |
Missense |
4/16 |
- |
1 |
2-47639596-C-T |
c.689C>T |
p.A230V |
Missense |
4/16 |
- |
1 |
2-47639598-G-T |
c.691G>T |
p.D231Y |
Missense |
4/16 |
- |
3 |
2-47639598-TG-T |
c.691del |
p.D231Tfs*15 |
Frameshift |
4/16 |
- |
2 |
2-47639598-G-A |
c.691G>A |
p.D231N |
Missense |
4/16 |
- |
1 |
2-47639598-G-C |
c.691G>C |
p.D231H |
Missense |
4/16 |
- |
1 |
2-47639599-A-C |
c.692A>C |
p.D231A |
Missense |
4/16 |
- |
1 |
2-47639599-A-G |
c.692A>G |
p.D231G |
Missense |
4/16 |
- |
1 |
2-47639599-A-T |
c.692A>T |
p.D231V |
Missense |
4/16 |
- |
1 |
2-47639600-C-T |
c.693C>T |
p.D231= |
Synonymous |
4/16 |
- |
1 |
2-47639600-C-G |
c.693C>G |
p.D231E |
Missense |
4/16 |
- |
2 |
2-47639600-C-A |
c.693C>A |
p.D231E |
Missense |
4/16 |
- |
1 |
2-47639601-T-A |
c.694T>A |
p.F232I |
Missense |
4/16 |
- |
1 |
2-47639601-T-C |
c.694T>C |
p.F232L |
Missense |
4/16 |
- |
1 |
2-47639601-T-G |
c.694T>G |
p.F232V |
Missense |
4/16 |
- |
1 |
2-47639602-T-A |
c.695T>A |
p.F232Y |
Missense |
4/16 |
- |
1 |
2-47639602-T-C |
c.695T>C |
p.F232S |
Missense |
4/16 |
- |
1 |
2-47639603-T-A |
c.696T>A |
p.F232L |
Missense |
4/16 |
- |
1 |
2-47639603-T-G |
c.696T>G |
p.F232L |
Missense |
4/16 |
- |
1 |
2-47639604-T-A |
c.697T>A |
p.S233T |
Missense |
4/16 |
- |
1 |
2-47639604-T-C |
c.697T>C |
p.S233P |
Missense |
4/16 |
- |
1 |
2-47639604-T-G |
c.697T>G |
p.S233A |
Missense |
4/16 |
- |
1 |
2-47639605-C-A |
c.698C>A |
p.S233Y |
Missense |
4/16 |
- |
1 |
2-47639605-C-G |
c.698C>G |
p.S233C |
Missense |
4/16 |
- |
1 |
2-47639605-C-T |
c.698C>T |
p.S233F |
Missense |
4/16 |
- |
1 |
2-47639607-A-C |
c.700A>C |
p.T234P |
Missense |
4/16 |
- |
1 |
2-47639607-A-G |
c.700A>G |
p.T234A |
Missense |
4/16 |
- |
1 |
2-47639607-A-T |
c.700A>T |
p.T234S |
Missense |
4/16 |
- |
1 |
2-47639608-C-A |
c.701C>A |
p.T234K |
Missense |
4/16 |
- |
1 |
2-47639608-C-G |
c.701C>G |
p.T234R |
Missense |
4/16 |
- |
1 |
2-47639608-C-T |
c.701C>T |
p.T234I |
Missense |
4/16 |
- |
1 |
2-47639610-A-C |
c.703A>C |
p.K235Q |
Missense |
4/16 |
- |
1 |
2-47639610-A-G |
c.703A>G |
p.K235E |
Missense |
4/16 |
- |
1 |
2-47639610-AAA-GAC |
c.703_705delinsGAC |
p.K235D |
Missense |
4/16 |
- |
1 |
2-47639611-A-C |
c.704A>C |
p.K235T |
Missense |
4/16 |
- |
1 |
2-47639611-A-G |
c.704A>G |
p.K235R |
Missense |
4/16 |
- |
1 |
2-47639611-A-T |
c.704A>T |
p.K235I |
Missense |
4/16 |
- |
1 |
2-47639612-A-C |
c.705A>C |
p.K235N |
Missense |
4/16 |
- |
1 |
2-47639612-A-T |
c.705A>T |
p.K235N |
Missense |
4/16 |
- |
1 |
2-47639613-G-A |
c.706G>A |
p.D236N |
Missense |
4/16 |
- |
1 |
2-47639613-G-C |
c.706G>C |
p.D236H |
Missense |
4/16 |
- |
1 |
2-47639613-G-T |
c.706G>T |
p.D236Y |
Missense |
4/16 |
- |
1 |
2-47639614-A-C |
c.707A>C |
p.D236A |
Missense |
4/16 |
- |
1 |
2-47639614-A-G |
c.707A>G |
p.D236G |
Missense |
4/16 |
- |
1 |
2-47639614-A-T |
c.707A>T |
p.D236V |
Missense |
4/16 |
- |
1 |
2-47639615-C-A |
c.708C>A |
p.D236E |
Missense |
4/16 |
- |
1 |
2-47639615-C-G |
c.708C>G |
p.D236E |
Missense |
4/16 |
- |
1 |
2-47639616-A-C |
c.709A>C |
p.I237L |
Missense |
4/16 |
- |
1 |
2-47639616-A-G |
c.709A>G |
p.I237V |
Missense |
4/16 |
- |
1 |
2-47639616-A-T |
c.709A>T |
p.I237F |
Missense |
4/16 |
- |
1 |
2-47639617-T-A |
c.710T>A |
p.I237N |
Missense |
4/16 |
- |
1 |
2-47639617-T-C |
c.710T>C |
p.I237T |
Missense |
4/16 |
- |
1 |
2-47639617-T-G |
c.710T>G |
p.I237S |
Missense |
4/16 |
- |
1 |
2-47639618-TTTATCAGGACCTCAACC-T |
c.711_727del |
p.I237Mfs*13 |
Frameshift |
4/16 |
- |
1 |
2-47639619-T-C |
c.712T>C |
p.Y238H |
Missense |
4/16 |
- |
1 |
2-47639619-T-G |
c.712T>G |
p.Y238D |
Missense |
4/16 |
- |
1 |
2-47639620-A-C |
c.713A>C |
p.Y238S |
Missense |
4/16 |
- |
1 |
2-47639620-A-G |
c.713A>G |
p.Y238C |
Missense |
4/16 |
- |
1 |
2-47639620-A-T |
c.713A>T |
p.Y238F |
Missense |
4/16 |
- |
2 |
2-47639622-C-T |
c.715C>T |
p.Q239* |
Nonsense |
4/16 |
- |
2 |
2-47639622-C-A |
c.715C>A |
p.Q239K |
Missense |
4/16 |
- |
1 |
2-47639622-C-G |
c.715C>G |
p.Q239E |
Missense |
4/16 |
- |
1 |
2-47639623-A-C |
c.716A>C |
p.Q239P |
Missense |
4/16 |
- |
1 |
2-47639623-A-G |
c.716A>G |
p.Q239R |
Missense |
4/16 |
- |
2 |
2-47639623-A-T |
c.716A>T |
p.Q239L |
Missense |
4/16 |
- |
1 |
2-47639624-G-C |
c.717G>C |
p.Q239H |
Missense |
4/16 |
- |
1 |
2-47639624-G-T |
c.717G>T |
p.Q239H |
Missense |
4/16 |
- |
1 |
2-47639624-GGACC-TTA |
c.717_721delinsTTA |
p.Q239Hfs*16 |
Frameshift |
4/16 |
- |
1 |
2-47639625-G-A |
c.718G>A |
p.D240N |
Missense |
4/16 |
- |
1 |
2-47639625-G-C |
c.718G>C |
p.D240H |
Missense |
4/16 |
- |
1 |
2-47639625-G-T |
c.718G>T |
p.D240Y |
Missense |
4/16 |
- |
1 |
2-47639625-GA-AG |
c.718_719delinsAG |
p.D240S |
Missense |
4/16 |
- |
1 |
2-47639623-AG-A |
c.718del |
p.D240Tfs*6 |
Frameshift |
4/16 |
- |
1 |
2-47639626-A-C |
c.719A>C |
p.D240A |
Missense |
4/16 |
- |
1 |
2-47639626-A-G |
c.719A>G |
p.D240G |
Missense |
4/16 |
- |
1 |
2-47639626-A-T |
c.719A>T |
p.D240V |
Missense |
4/16 |
- |
1 |
2-47639628-C-A |
c.721C>A |
p.L241I |
Missense |
4/16 |
- |
1 |
2-47639628-C-G |
c.721C>G |
p.L241V |
Missense |
4/16 |
- |
1 |
2-47639628-C-T |
c.721C>T |
p.L241F |
Missense |
4/16 |
- |
2 |
2-47639628-CT-AG |
c.721_722inv |
p.L241S |
Missense |
4/16 |
- |
1 |
2-47639629-T-C |
c.722T>C |
p.L241P |
Missense |
4/16 |
- |
1 |
2-47639629-T-G |
c.722T>G |
p.L241R |
Missense |
4/16 |
- |
1 |
2-47639630-C-A |
c.723C>A |
p.L241= |
Synonymous |
4/16 |
- |
1 |
2-47639631-A-C |
c.724A>C |
p.N242H |
Missense |
4/16 |
- |
1 |
2-47639631-A-G |
c.724A>G |
p.N242D |
Missense |
4/16 |
- |
1 |
2-47639631-A-T |
c.724A>T |
p.N242Y |
Missense |
4/16 |
- |
1 |
2-47639632-A-G |
c.725A>G |
p.N242S |
Missense |
4/16 |
- |
2 |
2-47639632-A-C |
c.725A>C |
p.N242T |
Missense |
4/16 |
- |
1 |
2-47639632-A-T |
c.725A>T |
p.N242I |
Missense |
4/16 |
- |
1 |
2-47639633-C-A |
c.726C>A |
p.N242K |
Missense |
4/16 |
- |
1 |
2-47639633-C-G |
c.726C>G |
p.N242K |
Missense |
4/16 |
- |
1 |
2-47639634-C-G |
c.727C>G |
p.R243G |
Missense |
4/16 |
- |
1 |
2-47639635-G-A |
c.728G>A |
p.R243Q |
Missense |
4/16 |
- |
3 |
2-47639635-G-C |
c.728G>C |
p.R243P |
Missense |
4/16 |
- |
1 |
2-47639635-G-T |
c.728G>T |
p.R243L |
Missense |
4/16 |
- |
1 |
2-47639637-T-A |
c.730T>A |
p.L244M |
Missense |
4/16 |
- |
1 |
2-47639637-T-G |
c.730T>G |
p.L244V |
Missense |
4/16 |
- |
1 |
2-47639638-T-C |
c.731T>C |
p.L244S |
Missense |
4/16 |
- |
1 |
2-47639638-T-G |
c.731T>G |
p.L244W |
Missense |
4/16 |
- |
1 |
2-47639636-G-GT |
c.731dup |
p.L244Ffs*12 |
Frameshift |
4/16 |
- |
1 |
2-47639639-G-C |
c.732G>C |
p.L244F |
Missense |
4/16 |
- |
1 |
2-47639639-G-T |
c.732G>T |
p.L244F |
Missense |
4/16 |
- |
1 |
2-47639640-T-A |
c.733T>A |
p.L245M |
Missense |
4/16 |
- |
1 |
2-47639640-T-G |
c.733T>G |
p.L245V |
Missense |
4/16 |
- |
1 |
2-47639641-T-C |
c.734T>C |
p.L245S |
Missense |
4/16 |
- |
1 |
2-47639641-T-G |
c.734T>G |
p.L245W |
Missense |
4/16 |
- |
1 |
2-47639642-G-C |
c.735G>C |
p.L245F |
Missense |
4/16 |
- |
1 |
2-47639642-G-T |
c.735G>T |
p.L245F |
Missense |
4/16 |
- |
1 |
2-47639643-A-C |
c.736A>C |
p.K246Q |
Missense |
4/16 |
- |
2 |
2-47639643-A-G |
c.736A>G |
p.K246E |
Missense |
4/16 |
- |
1 |
2-47639644-A-C |
c.737A>C |
p.K246T |
Missense |
4/16 |
- |
1 |
2-47639644-A-G |
c.737A>G |
p.K246R |
Missense |
4/16 |
- |
1 |
2-47639644-A-T |
c.737A>T |
p.K246I |
Missense |
4/16 |
- |
1 |
2-47639645-A-C |
c.738A>C |
p.K246N |
Missense |
4/16 |
- |
1 |
2-47639645-A-T |
c.738A>T |
p.K246N |
Missense |
4/16 |
- |
1 |
2-47639646-G-A |
c.739G>A |
p.G247S |
Missense |
4/16 |
- |
1 |
2-47639646-G-C |
c.739G>C |
p.G247R |
Missense |
4/16 |
- |
1 |
2-47639646-G-T |
c.739G>T |
p.G247C |
Missense |
4/16 |
- |
1 |
2-47639647-G-A |
c.740G>A |
p.G247D |
Missense |
4/16 |
- |
1 |
2-47639647-G-C |
c.740G>C |
p.G247A |
Missense |
4/16 |
- |
1 |
2-47639647-G-T |
c.740G>T |
p.G247V |
Missense |
4/16 |
- |
1 |
2-47639649-A-C |
c.742A>C |
p.K248Q |
Missense |
4/16 |
- |
2 |
2-47639649-A-G |
c.742A>G |
p.K248E |
Missense |
4/16 |
- |
2 |
2-47639650-A-AGGTAAAAAAAAAAAAAAAAAAAAAAAGG |
c.743_744insGGTAAAAAAAAAAAAAAAAAAAAAAAGG |
p.K249Vfs*16 |
Frameshift |
4/16 |
- |
1 |
2-47639650-A-C |
c.743A>C |
p.K248T |
Missense |
4/16 |
- |
1 |
2-47639650-A-G |
c.743A>G |
p.K248R |
Missense |
4/16 |
- |
1 |
2-47639650-A-T |
c.743A>T |
p.K248I |
Missense |
4/16 |
- |
1 |
2-47639651-A-C |
c.744A>C |
p.K248N |
Missense |
4/16 |
- |
1 |
2-47639651-A-T |
c.744A>T |
p.K248N |
Missense |
4/16 |
- |
1 |
2-47639652-A-C |
c.745A>C |
p.K249Q |
Missense |
4/16 |
- |
1 |
2-47639652-A-G |
c.745A>G |
p.K249E |
Missense |
4/16 |
- |
1 |
2-47639653-A-C |
c.746A>C |
p.K249T |
Missense |
4/16 |
- |
1 |
2-47639653-A-G |
c.746A>G |
p.K249R |
Missense |
4/16 |
- |
1 |
2-47639653-A-T |
c.746A>T |
p.K249M |
Missense |
4/16 |
- |
1 |
2-47639654-G-C |
c.747G>C |
p.K249N |
Missense |
4/16 |
- |
1 |
2-47639654-G-T |
c.747G>T |
p.K249N |
Missense |
4/16 |
- |
1 |
2-47639655-G-A |
c.748G>A |
p.G250R |
Missense |
4/16 |
- |
1 |
2-47639655-G-C |
c.748G>C |
p.G250R |
Missense |
4/16 |
- |
1 |
2-47639656-G-A |
c.749G>A |
p.G250E |
Missense |
4/16 |
- |
1 |
2-47639656-G-C |
c.749G>C |
p.G250A |
Missense |
4/16 |
- |
1 |
2-47639656-G-T |
c.749G>T |
p.G250V |
Missense |
4/16 |
- |
1 |
2-47639658-G-C |
c.751G>C |
p.E251Q |
Missense |
4/16 |
- |
1 |
2-47639659-A-C |
c.752A>C |
p.E251A |
Missense |
4/16 |
- |
1 |
2-47639659-A-G |
c.752A>G |
p.E251G |
Missense |
4/16 |
- |
1 |
2-47639659-A-T |
c.752A>T |
p.E251V |
Missense |
4/16 |
- |
1 |
2-47639660-G-C |
c.753G>C |
p.E251D |
Missense |
4/16 |
- |
1 |
2-47639660-G-T |
c.753G>T |
p.E251D |
Missense |
4/16 |
- |
1 |
2-47639661-C-T |
c.754C>T |
p.Q252* |
Nonsense |
4/16 |
- |
1 |
2-47639661-C-A |
c.754C>A |
p.Q252K |
Missense |
4/16 |
- |
1 |
2-47639661-C-G |
c.754C>G |
p.Q252E |
Missense |
4/16 |
- |
1 |
2-47639662-A-C |
c.755A>C |
p.Q252P |
Missense |
4/16 |
- |
1 |
2-47639662-A-G |
c.755A>G |
p.Q252R |
Missense |
4/16 |
- |
1 |
2-47639662-A-T |
c.755A>T |
p.Q252L |
Missense |
4/16 |
- |
1 |
2-47639663-G-C |
c.756G>C |
p.Q252H |
Missense |
4/16 |
- |
1 |
2-47639663-G-T |
c.756G>T |
p.Q252H |
Missense |
4/16 |
- |
1 |
2-47639664-A-C |
c.757A>C |
p.M253L |
Missense |
4/16 |
- |
1 |
2-47639664-A-T |
c.757A>T |
p.M253L |
Missense |
4/16 |
- |
1 |
2-47639664-A-G |
c.757A>G |
p.M253V |
Missense |
4/16 |
- |
1 |
2-47639664-ATG-TAT |
c.757_759delinsTAT |
p.M253Y |
Missense |
4/16 |
- |
1 |
2-47639665-T-A |
c.758T>A |
p.M253K |
Missense |
4/16 |
- |
1 |
2-47639665-T-C |
c.758T>C |
p.M253T |
Missense |
4/16 |
- |
1 |
2-47639665-T-G |
c.758T>G |
p.M253R |
Missense |
4/16 |
- |
1 |
2-47639663-GATGAAT-G |
c.758_763del |
p.M253_N254del |
InFrameDeletion |
4/16 |
- |
1 |
2-47639663-GATGA-G |
c.759_762del |
p.M253Ifs*20 |
Frameshift |
4/16 |
- |
2 |
2-47639667-A-C |
c.760A>C |
p.N254H |
Missense |
4/16 |
- |
1 |
2-47639667-A-G |
c.760A>G |
p.N254D |
Missense |
4/16 |
- |
1 |
2-47639667-A-T |
c.760A>T |
p.N254Y |
Missense |
4/16 |
- |
1 |
2-47639666-GA-G |
c.761del |
p.N254Ifs*20 |
Frameshift |
4/16 |
- |
1 |
2-47639668-A-C |
c.761A>C |
p.N254T |
Missense |
4/16 |
- |
1 |
2-47639668-A-G |
c.761A>G |
p.N254S |
Missense |
4/16 |
- |
1 |
2-47639668-A-T |
c.761A>T |
p.N254I |
Missense |
4/16 |
- |
1 |
2-47639669-T-A |
c.762T>A |
p.N254K |
Missense |
4/16 |
- |
1 |
2-47639669-T-G |
c.762T>G |
p.N254K |
Missense |
4/16 |
- |
1 |
2-47639670-AGTG-TT |
c.763_766delinsTT |
p.S255Ffs*28 |
Frameshift |
4/16 |
- |
1 |
2-47639670-A-C |
c.763A>C |
p.S255R |
Missense |
4/16 |
- |
1 |
2-47639670-A-G |
c.763A>G |
p.S255G |
Missense |
4/16 |
- |
1 |
2-47639670-A-T |
c.763A>T |
p.S255C |
Missense |
4/16 |
- |
1 |
2-47639670-AGT-TGA |
c.763_765delinsTGA |
p.S255* |
Nonsense |
4/16 |
- |
1 |
2-47639671-G-A |
c.764G>A |
p.S255N |
Missense |
4/16 |
- |
1 |
2-47639671-G-C |
c.764G>C |
p.S255T |
Missense |
4/16 |
- |
1 |
2-47639671-G-T |
c.764G>T |
p.S255I |
Missense |
4/16 |
- |
1 |
2-47639672-T-A |
c.765T>A |
p.S255R |
Missense |
4/16 |
- |
1 |
2-47639672-T-G |
c.765T>G |
p.S255R |
Missense |
4/16 |
- |
1 |
2-47639673-G-A |
c.766G>A |
p.A256T |
Missense |
4/16 |
- |
1 |
2-47639673-G-C |
c.766G>C |
p.A256P |
Missense |
4/16 |
- |
1 |
2-47639673-G-T |
c.766G>T |
p.A256S |
Missense |
4/16 |
- |
1 |
2-47639674-C-A |
c.767C>A |
p.A256D |
Missense |
4/16 |
- |
1 |
2-47639674-C-G |
c.767C>G |
p.A256G |
Missense |
4/16 |
- |
1 |
2-47639674-C-T |
c.767C>T |
p.A256V |
Missense |
4/16 |
- |
2 |
2-47639676-G-A |
c.769G>A |
p.V257I |
Missense |
4/16 |
- |
1 |
2-47639676-G-C |
c.769G>C |
p.V257L |
Missense |
4/16 |
- |
1 |
2-47639676-G-T |
c.769G>T |
p.V257L |
Missense |
4/16 |
- |
1 |
2-47639677-T-A |
c.770T>A |
p.V257E |
Missense |
4/16 |
- |
1 |
2-47639677-T-C |
c.770T>C |
p.V257A |
Missense |
4/16 |
- |
1 |
2-47639677-T-G |
c.770T>G |
p.V257G |
Missense |
4/16 |
- |
1 |
2-47639679-T-C |
c.772T>C |
p.L258= |
Synonymous |
4/16 |
- |
1 |
2-47639679-T-A |
c.772T>A |
p.L258M |
Missense |
4/16 |
- |
1 |
2-47639679-T-G |
c.772T>G |
p.L258V |
Missense |
4/16 |
- |
1 |
2-47639680-T-C |
c.773T>C |
p.L258S |
Missense |
4/16 |
- |
1 |
2-47639680-T-G |
c.773T>G |
p.L258W |
Missense |
4/16 |
- |
1 |
2-47639680-T-A |
c.773T>A |
p.L258* |
Nonsense |
4/16 |
- |
1 |
2-47639681-G-A |
c.774G>A |
p.L258= |
Synonymous |
4/16 |
- |
1 |
2-47639681-G-C |
c.774G>C |
p.L258F |
Missense |
4/16 |
- |
1 |
2-47639681-G-T |
c.774G>T |
p.L258F |
Missense |
4/16 |
- |
1 |
2-47639682-C-A |
c.775C>A |
p.P259T |
Missense |
4/16 |
- |
1 |
2-47639682-C-G |
c.775C>G |
p.P259A |
Missense |
4/16 |
- |
1 |
2-47639682-C-T |
c.775C>T |
p.P259S |
Missense |
4/16 |
- |
2 |
2-47639683-C-A |
c.776C>A |
p.P259Q |
Missense |
4/16 |
- |
1 |
2-47639683-C-G |
c.776C>G |
p.P259R |
Missense |
4/16 |
- |
2 |
2-47639683-C-T |
c.776C>T |
p.P259L |
Missense |
4/16 |
- |
1 |
2-47639685-G-A |
c.778G>A |
p.E260K |
Missense |
4/16 |
- |
3 |
2-47639685-G-C |
c.778G>C |
p.E260Q |
Missense |
4/16 |
- |
1 |
2-47639686-A-C |
c.779A>C |
p.E260A |
Missense |
4/16 |
- |
1 |
2-47639686-A-G |
c.779A>G |
p.E260G |
Missense |
4/16 |
- |
1 |
2-47639686-A-T |
c.779A>T |
p.E260V |
Missense |
4/16 |
- |
1 |
2-47639687-A-C |
c.780A>C |
p.E260D |
Missense |
4/16 |
- |
1 |
2-47639687-A-T |
c.780A>T |
p.E260D |
Missense |
4/16 |
- |
1 |
2-47639688-A-C |
c.781A>C |
p.M261L |
Missense |
4/16 |
- |
1 |
2-47639688-A-T |
c.781A>T |
p.M261L |
Missense |
4/16 |
- |
1 |
2-47639688-A-G |
c.781A>G |
p.M261V |
Missense |
4/16 |
- |
2 |
2-47639689-T-A |
c.782T>A |
p.M261K |
Missense |
4/16 |
- |
1 |
2-47639689-T-C |
c.782T>C |
p.M261T |
Missense |
4/16 |
- |
1 |
2-47639689-T-G |
c.782T>G |
p.M261R |
Missense |
4/16 |
- |
1 |
2-47639690-G-A |
c.783G>A |
p.M261I |
Missense |
4/16 |
- |
1 |
2-47639690-G-C |
c.783G>C |
p.M261I |
Missense |
4/16 |
- |
1 |
2-47639690-G-T |
c.783G>T |
p.M261I |
Missense |
4/16 |
- |
1 |
2-47639691-G-A |
c.784G>A |
p.E262K |
Missense |
4/16 |
- |
2 |
2-47639691-G-C |
c.784G>C |
p.E262Q |
Missense |
4/16 |
- |
1 |
2-47639689-TG-T |
c.784del |
p.E262Rfs*12 |
Frameshift |
4/16 |
- |
1 |
2-47639692-A-C |
c.785A>C |
p.E262A |
Missense |
4/16 |
- |
1 |
2-47639692-A-G |
c.785A>G |
p.E262G |
Missense |
4/16 |
- |
1 |
2-47639692-A-T |
c.785A>T |
p.E262V |
Missense |
4/16 |
- |
1 |
2-47639693-G-C |
c.786G>C |
p.E262D |
Missense |
4/16 |
- |
1 |
2-47639693-G-T |
c.786G>T |
p.E262D |
Missense |
4/16 |
- |
1 |
2-47639693-G-GT |
c.786_787insT |
p.N263* |
Nonsense |
4/16 |
- |
1 |
2-47639694-A-C |
c.787A>C |
p.N263H |
Missense |
4/16 |
- |
1 |
2-47639694-A-G |
c.787A>G |
p.N263D |
Missense |
4/16 |
- |
1 |
2-47639694-A-T |
c.787A>T |
p.N263Y |
Missense |
4/16 |
- |
1 |
2-47639695-A-C |
c.788A>C |
p.N263T |
Missense |
4/16 |
- |
1 |
2-47639695-A-G |
c.788A>G |
p.N263S |
Missense |
4/16 |
- |
1 |
2-47639695-A-T |
c.788A>T |
p.N263I |
Missense |
4/16 |
- |
1 |
2-47639696-T-A |
c.789T>A |
p.N263K |
Missense |
4/16 |
- |
1 |
2-47639696-T-G |
c.789T>G |
p.N263K |
Missense |
4/16 |
- |
1 |
2-47639697-C-T |
c.790C>T |
p.Q264* |
Nonsense |
4/16 |
- |
3 |
2-47639697-C-G |
c.790C>G |
p.Q264E |
Missense |
4/16 |
- |
2 |
2-47639697-C-A |
c.790C>A |
p.Q264K |
Missense |
4/16 |
- |
1 |
2-47639699-G-C |
c.792G>C |
p.Q264H |
Missense |
4/16 |
- |
1 |
2-47639700-G-A |
c.792+1G>A |
- |
IntronicSNV |
- |
4/15 |
3 |
2-47639700-G-T |
c.792+1G>T |
- |
IntronicSNV |
- |
4/15 |
1 |
2-47639703-C-T |
c.792+4C>T |
- |
IntronicSNV |
- |
4/15 |
1 |
2-47641373-A-G |
c.793-35A>G |
- |
IntronicSNV |
- |
4/15 |
1 |
2-47641385-G-A |
c.793-23G>A |
- |
IntronicSNV |
- |
4/15 |
1 |
2-47641385-G-T |
c.793-23G>T |
- |
IntronicSNV |
- |
4/15 |
1 |
2-47641410-TTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCA-T |
c.795_853del |
p.A266Lfs*5 |
InFrameDeletion |
5/16 |
- |
9 |
2-47641411-G-A |
c.796G>A |
p.A266T |
Missense |
5/16 |
- |
1 |
2-47641411-G-C |
c.796G>C |
p.A266P |
Missense |
5/16 |
- |
1 |
2-47641411-G-T |
c.796G>T |
p.A266S |
Missense |
5/16 |
- |
1 |
2-47641411-GCA-TGG |
c.796_798delinsTGG |
p.A266W |
Missense |
5/16 |
- |
1 |
2-47641412-C-A |
c.797C>A |
p.A266E |
Missense |
5/16 |
- |
1 |
2-47641412-C-G |
c.797C>G |
p.A266G |
Missense |
5/16 |
- |
1 |
2-47641412-C-T |
c.797C>T |
p.A266V |
Missense |
5/16 |
- |
1 |
2-47641413-A-T |
c.798A>T |
p.A266= |
Synonymous |
5/16 |
- |
1 |
2-47641414-G-A |
c.799G>A |
p.V267I |
Missense |
5/16 |
- |
1 |
2-47641414-G-C |
c.799G>C |
p.V267L |
Missense |
5/16 |
- |
1 |
2-47641414-G-T |
c.799G>T |
p.V267F |
Missense |
5/16 |
- |
1 |
2-47641415-T-A |
c.800T>A |
p.V267D |
Missense |
5/16 |
- |
1 |
2-47641415-T-C |
c.800T>C |
p.V267A |
Missense |
5/16 |
- |
1 |
2-47641415-T-G |
c.800T>G |
p.V267G |
Missense |
5/16 |
- |
1 |
2-47641417-T-A |
c.802T>A |
p.S268T |
Missense |
5/16 |
- |
1 |
2-47641417-T-C |
c.802T>C |
p.S268P |
Missense |
5/16 |
- |
1 |
2-47641417-T-G |
c.802T>G |
p.S268A |
Missense |
5/16 |
- |
1 |
2-47641418-C-T |
c.803C>T |
p.S268L |
Missense |
5/16 |
- |
2 |
2-47641419-A-T |
c.804A>T |
p.S268= |
Synonymous |
5/16 |
- |
1 |
2-47641420-T-A |
c.805T>A |
p.S269T |
Missense |
5/16 |
- |
1 |
2-47641420-T-C |
c.805T>C |
p.S269P |
Missense |
5/16 |
- |
1 |
2-47641420-T-G |
c.805T>G |
p.S269A |
Missense |
5/16 |
- |
1 |
2-47641421-C-T |
c.806C>T |
p.S269L |
Missense |
5/16 |
- |
2 |
2-47641421-C-G |
c.806C>G |
p.S269* |
Nonsense |
5/16 |
- |
1 |
2-47641423-C-T |
c.808C>T |
p.L270= |
Synonymous |
5/16 |
- |
1 |
2-47641423-C-A |
c.808C>A |
p.L270M |
Missense |
5/16 |
- |
1 |
2-47641423-C-G |
c.808C>G |
p.L270V |
Missense |
5/16 |
- |
1 |
2-47641424-T-G |
c.809T>G |
p.L270R |
Missense |
5/16 |
- |
2 |
2-47641424-T-A |
c.809T>A |
p.L270Q |
Missense |
5/16 |
- |
1 |
2-47641424-T-C |
c.809T>C |
p.L270P |
Missense |
5/16 |
- |
1 |
2-47641423-CTG-C |
c.810_811del |
p.S271Cfs*12 |
Frameshift |
5/16 |
- |
1 |
2-47641422-ACTGT-A |
c.811_814del |
p.S271Rfs*2 |
Frameshift |
5/16 |
- |
1 |
2-47641426-T-A |
c.811T>A |
p.S271T |
Missense |
5/16 |
- |
1 |
2-47641426-T-C |
c.811T>C |
p.S271P |
Missense |
5/16 |
- |
1 |
2-47641426-T-G |
c.811T>G |
p.S271A |
Missense |
5/16 |
- |
1 |
2-47641427-C-A |
c.812C>A |
p.S271Y |
Missense |
5/16 |
- |
1 |
2-47641427-C-G |
c.812C>G |
p.S271C |
Missense |
5/16 |
- |
2 |
2-47641427-C-T |
c.812C>T |
p.S271F |
Missense |
5/16 |
- |
1 |
2-47641429-G-A |
c.814G>A |
p.A272T |
Missense |
5/16 |
- |
1 |
2-47641429-G-C |
c.814G>C |
p.A272P |
Missense |
5/16 |
- |
1 |
2-47641429-G-T |
c.814G>T |
p.A272S |
Missense |
5/16 |
- |
2 |
2-47641430-C-T |
c.815C>T |
p.A272V |
Missense |
5/16 |
- |
14 |
2-47641430-C-G |
c.815C>G |
p.A272G |
Missense |
5/16 |
- |
1 |
2-47641432-G-A |
c.817G>A |
p.V273I |
Missense |
5/16 |
- |
2 |
2-47641432-G-C |
c.817G>C |
p.V273L |
Missense |
5/16 |
- |
1 |
2-47641432-G-T |
c.817G>T |
p.V273L |
Missense |
5/16 |
- |
1 |
2-47641433-T-C |
c.818T>C |
p.V273A |
Missense |
5/16 |
- |
1 |
2-47641433-T-G |
c.818T>G |
p.V273G |
Missense |
5/16 |
- |
1 |
2-47641435-A-C |
c.820A>C |
p.I274L |
Missense |
5/16 |
- |
1 |
2-47641435-A-G |
c.820A>G |
p.I274V |
Missense |
5/16 |
- |
1 |
2-47641435-A-T |
c.820A>T |
p.I274F |
Missense |
5/16 |
- |
1 |
2-47641436-T-C |
c.821T>C |
p.I274T |
Missense |
5/16 |
- |
1 |
2-47641436-T-G |
c.821T>G |
p.I274S |
Missense |
5/16 |
- |
1 |
2-47641437-C-G |
c.822C>G |
p.I274M |
Missense |
5/16 |
- |
1 |
2-47641438-A-C |
c.823A>C |
p.K275Q |
Missense |
5/16 |
- |
2 |
2-47641439-A-C |
c.824A>C |
p.K275T |
Missense |
5/16 |
- |
2 |
2-47641439-A-G |
c.824A>G |
p.K275R |
Missense |
5/16 |
- |
1 |
2-47641439-A-T |
c.824A>T |
p.K275M |
Missense |
5/16 |
- |
1 |
2-47641440-G-T |
c.825G>T |
p.K275N |
Missense |
5/16 |
- |
2 |
2-47641440-G-C |
c.825G>C |
p.K275N |
Missense |
5/16 |
- |
1 |
2-47641441-T-A |
c.826T>A |
p.F276I |
Missense |
5/16 |
- |
1 |
2-47641441-T-C |
c.826T>C |
p.F276L |
Missense |
5/16 |
- |
1 |
2-47641441-T-G |
c.826T>G |
p.F276V |
Missense |
5/16 |
- |
1 |
2-47641442-T-A |
c.827T>A |
p.F276Y |
Missense |
5/16 |
- |
1 |
2-47641442-T-C |
c.827T>C |
p.F276S |
Missense |
5/16 |
- |
1 |
2-47641442-T-G |
c.827T>G |
p.F276C |
Missense |
5/16 |
- |
1 |
2-47641443-T-A |
c.828T>A |
p.F276L |
Missense |
5/16 |
- |
1 |
2-47641443-T-G |
c.828T>G |
p.F276L |
Missense |
5/16 |
- |
1 |
2-47641444-T-A |
c.829T>A |
p.L277I |
Missense |
5/16 |
- |
1 |
2-47641444-T-G |
c.829T>G |
p.L277V |
Missense |
5/16 |
- |
1 |
2-47641445-T-A |
c.830T>A |
p.L277* |
Nonsense |
5/16 |
- |
1 |
2-47641445-T-G |
c.830T>G |
p.L277* |
Nonsense |
5/16 |
- |
2 |
2-47641445-T-C |
c.830T>C |
p.L277S |
Missense |
5/16 |
- |
1 |
2-47641440-GT-G |
c.830del |
p.L277* |
Frameshift |
5/16 |
- |
2 |
2-47641446-A-C |
c.831A>C |
p.L277F |
Missense |
5/16 |
- |
1 |
2-47641446-A-T |
c.831A>T |
p.L277F |
Missense |
5/16 |
- |
1 |
2-47641447-G-A |
c.832G>A |
p.E278K |
Missense |
5/16 |
- |
1 |
2-47641447-G-C |
c.832G>C |
p.E278Q |
Missense |
5/16 |
- |
1 |
2-47641447-AG-A |
c.832del |
p.E278Nfs*14 |
Frameshift |
5/16 |
- |
1 |
2-47641447-G-T |
c.832G>T |
p.E278* |
Nonsense |
5/16 |
- |
1 |
2-47641448-A-C |
c.833A>C |
p.E278A |
Missense |
5/16 |
- |
1 |
2-47641448-A-G |
c.833A>G |
p.E278G |
Missense |
5/16 |
- |
1 |
2-47641448-A-T |
c.833A>T |
p.E278V |
Missense |
5/16 |
- |
1 |
2-47641449-A-C |
c.834A>C |
p.E278D |
Missense |
5/16 |
- |
1 |
2-47641449-A-T |
c.834A>T |
p.E278D |
Missense |
5/16 |
- |
1 |
2-47641450-C-A |
c.835C>A |
p.L279I |
Missense |
5/16 |
- |
1 |
2-47641450-C-G |
c.835C>G |
p.L279V |
Missense |
5/16 |
- |
3 |
2-47641450-C-T |
c.835C>T |
p.L279F |
Missense |
5/16 |
- |
1 |
2-47641451-T-A |
c.836T>A |
p.L279H |
Missense |
5/16 |
- |
1 |
2-47641451-T-C |
c.836T>C |
p.L279P |
Missense |
5/16 |
- |
1 |
2-47641451-T-G |
c.836T>G |
p.L279R |
Missense |
5/16 |
- |
1 |
2-47641451-CT-C |
c.836del |
p.L279Pfs*13 |
Frameshift |
5/16 |
- |
1 |
2-47641453-T-A |
c.838T>A |
p.L280I |
Missense |
5/16 |
- |
1 |
2-47641453-T-G |
c.838T>G |
p.L280V |
Missense |
5/16 |
- |
1 |
2-47641452-C-CT |
c.839dup |
p.L280Ffs*4 |
Frameshift |
5/16 |
- |
1 |
2-47641454-T-C |
c.839T>C |
p.L280S |
Missense |
5/16 |
- |
2 |
2-47641455-A-T |
c.840A>T |
p.L280F |
Missense |
5/16 |
- |
2 |
2-47641455-A-C |
c.840A>C |
p.L280F |
Missense |
5/16 |
- |
2 |
2-47641453-TTA-T |
c.840_841del |
p.L280Ffs*3 |
Frameshift |
5/16 |
- |
1 |
2-47641456-T-A |
c.841T>A |
p.S281T |
Missense |
5/16 |
- |
1 |
2-47641456-T-C |
c.841T>C |
p.S281P |
Missense |
5/16 |
- |
1 |
2-47641456-T-G |
c.841T>G |
p.S281A |
Missense |
5/16 |
- |
1 |
2-47641457-C-A |
c.842C>A |
p.S281* |
Nonsense |
5/16 |
- |
1 |
2-47641457-C-G |
c.842C>G |
p.S281* |
Nonsense |
5/16 |
- |
3 |
2-47641457-C-T |
c.842C>T |
p.S281L |
Missense |
5/16 |
- |
2 |
2-47641458-A-T |
c.843A>T |
p.S281= |
Synonymous |
5/16 |
- |
1 |
2-47641459-G-A |
c.844G>A |
p.D282N |
Missense |
5/16 |
- |
1 |
2-47641459-G-C |
c.844G>C |
p.D282H |
Missense |
5/16 |
- |
1 |
2-47641459-G-T |
c.844G>T |
p.D282Y |
Missense |
5/16 |
- |
1 |
2-47641460-A-C |
c.845A>C |
p.D282A |
Missense |
5/16 |
- |
1 |
2-47641460-A-G |
c.845A>G |
p.D282G |
Missense |
5/16 |
- |
1 |
2-47641460-A-T |
c.845A>T |
p.D282V |
Missense |
5/16 |
- |
1 |
2-47641461-T-A |
c.846T>A |
p.D282E |
Missense |
5/16 |
- |
1 |
2-47641461-T-G |
c.846T>G |
p.D282E |
Missense |
5/16 |
- |
1 |
2-47641462-G-T |
c.847G>T |
p.D283Y |
Missense |
5/16 |
- |
2 |
2-47641462-G-A |
c.847G>A |
p.D283N |
Missense |
5/16 |
- |
1 |
2-47641462-G-C |
c.847G>C |
p.D283H |
Missense |
5/16 |
- |
1 |
2-47641462-GAT-AAG |
c.847_849delinsAAG |
p.D283K |
Missense |
5/16 |
- |
1 |
2-47641463-A-C |
c.848A>C |
p.D283A |
Missense |
5/16 |
- |
1 |
2-47641463-A-G |
c.848A>G |
p.D283G |
Missense |
5/16 |
- |
1 |
2-47641463-A-T |
c.848A>T |
p.D283V |
Missense |
5/16 |
- |
1 |
2-47641464-T-A |
c.849T>A |
p.D283E |
Missense |
5/16 |
- |
1 |
2-47641464-T-G |
c.849T>G |
p.D283E |
Missense |
5/16 |
- |
1 |
2-47641465-T-A |
c.850T>A |
p.S284T |
Missense |
5/16 |
- |
1 |
2-47641465-T-C |
c.850T>C |
p.S284P |
Missense |
5/16 |
- |
1 |
2-47641465-T-G |
c.850T>G |
p.S284A |
Missense |
5/16 |
- |
1 |
2-47641466-C-A |
c.851C>A |
p.S284Y |
Missense |
5/16 |
- |
1 |
2-47641466-C-G |
c.851C>G |
p.S284C |
Missense |
5/16 |
- |
1 |
2-47641466-C-T |
c.851C>T |
p.S284F |
Missense |
5/16 |
- |
1 |
2-47641468-A-G |
c.853A>G |
p.N285D |
Missense |
5/16 |
- |
2 |
2-47641468-A-C |
c.853A>C |
p.N285H |
Missense |
5/16 |
- |
1 |
2-47641468-A-T |
c.853A>T |
p.N285Y |
Missense |
5/16 |
- |
1 |
2-47641469-A-C |
c.854A>C |
p.N285T |
Missense |
5/16 |
- |
1 |
2-47641469-A-G |
c.854A>G |
p.N285S |
Missense |
5/16 |
- |
1 |
2-47641469-A-T |
c.854A>T |
p.N285I |
Missense |
5/16 |
- |
1 |
2-47641467-CA-C |
c.854del |
p.N285Tfs*7 |
Frameshift |
5/16 |
- |
1 |
2-47641470-C-A |
c.855C>A |
p.N285K |
Missense |
5/16 |
- |
1 |
2-47641470-C-G |
c.855C>G |
p.N285K |
Missense |
5/16 |
- |
1 |
2-47641471-T-A |
c.856T>A |
p.F286I |
Missense |
5/16 |
- |
1 |
2-47641471-T-C |
c.856T>C |
p.F286L |
Missense |
5/16 |
- |
1 |
2-47641471-T-G |
c.856T>G |
p.F286V |
Missense |
5/16 |
- |
1 |
2-47641472-T-C |
c.857T>C |
p.F286S |
Missense |
5/16 |
- |
1 |
2-47641473-T-A |
c.858T>A |
p.F286L |
Missense |
5/16 |
- |
1 |
2-47641473-T-G |
c.858T>G |
p.F286L |
Missense |
5/16 |
- |
1 |
2-47641474-G-T |
c.859G>T |
p.G287* |
Nonsense |
5/16 |
- |
2 |
2-47641474-G-A |
c.859G>A |
p.G287R |
Missense |
5/16 |
- |
1 |
2-47641474-G-C |
c.859G>C |
p.G287R |
Missense |
5/16 |
- |
1 |
2-47641474-GGA-TGT |
c.859_861delinsTGT |
p.G287C |
Missense |
5/16 |
- |
1 |
2-47641475-G-A |
c.860G>A |
p.G287E |
Missense |
5/16 |
- |
1 |
2-47641475-G-C |
c.860G>C |
p.G287A |
Missense |
5/16 |
- |
1 |
2-47641475-G-T |
c.860G>T |
p.G287V |
Missense |
5/16 |
- |
2 |
2-47641473-T-TG |
c.860dup |
p.Q288Tfs*3 |
Frameshift |
5/16 |
- |
1 |
2-47641476-A-G |
c.861A>G |
p.G287= |
Synonymous |
5/16 |
- |
1 |
2-47641477-CA-GC |
c.862_863delinsGC |
p.Q288A |
Missense |
5/16 |
- |
1 |
2-47641477-C-T |
c.862C>T |
p.Q288* |
Nonsense |
5/16 |
- |
4 |
2-47641477-C-A |
c.862C>A |
p.Q288K |
Missense |
5/16 |
- |
1 |
2-47641477-C-G |
c.862C>G |
p.Q288E |
Missense |
5/16 |
- |
1 |
2-47641478-A-C |
c.863A>C |
p.Q288P |
Missense |
5/16 |
- |
1 |
2-47641478-A-G |
c.863A>G |
p.Q288R |
Missense |
5/16 |
- |
1 |
2-47641478-A-T |
c.863A>T |
p.Q288L |
Missense |
5/16 |
- |
1 |
2-47641478-CA-C |
c.863del |
p.Q288Rfs*4 |
Frameshift |
5/16 |
- |
1 |
2-47641479-G-C |
c.864G>C |
p.Q288H |
Missense |
5/16 |
- |
2 |
2-47641479-G-T |
c.864G>T |
p.Q288H |
Missense |
5/16 |
- |
1 |
2-47641480-T-A |
c.865T>A |
p.F289I |
Missense |
5/16 |
- |
1 |
2-47641480-T-C |
c.865T>C |
p.F289L |
Missense |
5/16 |
- |
1 |
2-47641480-T-G |
c.865T>G |
p.F289V |
Missense |
5/16 |
- |
1 |
2-47641481-T-C |
c.866T>C |
p.F289S |
Missense |
5/16 |
- |
1 |
2-47641481-T-G |
c.866T>G |
p.F289C |
Missense |
5/16 |
- |
2 |
2-47641482-T-A |
c.867T>A |
p.F289L |
Missense |
5/16 |
- |
1 |
2-47641482-T-G |
c.867T>G |
p.F289L |
Missense |
5/16 |
- |
1 |
2-47641483-G-A |
c.868G>A |
p.E290K |
Missense |
5/16 |
- |
1 |
2-47641483-G-C |
c.868G>C |
p.E290Q |
Missense |
5/16 |
- |
1 |
2-47641483-G-T |
c.868G>T |
p.E290* |
Nonsense |
5/16 |
- |
1 |
2-47641484-A-C |
c.869A>C |
p.E290A |
Missense |
5/16 |
- |
1 |
2-47641484-A-G |
c.869A>G |
p.E290G |
Missense |
5/16 |
- |
1 |
2-47641484-A-T |
c.869A>T |
p.E290V |
Missense |
5/16 |
- |
1 |
2-47641485-A-C |
c.870A>C |
p.E290D |
Missense |
5/16 |
- |
1 |
2-47641485-A-T |
c.870A>T |
p.E290D |
Missense |
5/16 |
- |
1 |
2-47641486-C-A |
c.871C>A |
p.L291M |
Missense |
5/16 |
- |
1 |
2-47641486-C-G |
c.871C>G |
p.L291V |
Missense |
5/16 |
- |
1 |
2-47641487-T-A |
c.872T>A |
p.L291Q |
Missense |
5/16 |
- |
1 |
2-47641487-T-C |
c.872T>C |
p.L291P |
Missense |
5/16 |
- |
1 |
2-47641487-T-G |
c.872T>G |
p.L291R |
Missense |
5/16 |
- |
1 |
2-47641484-AACTG-A |
c.873_876del |
p.T292Lfs*8 |
Frameshift |
5/16 |
- |
1 |
2-47641489-A-C |
c.874A>C |
p.T292P |
Missense |
5/16 |
- |
1 |
2-47641489-A-G |
c.874A>G |
p.T292A |
Missense |
5/16 |
- |
1 |
2-47641489-A-T |
c.874A>T |
p.T292S |
Missense |
5/16 |
- |
2 |
2-47641490-C-G |
c.875C>G |
p.T292S |
Missense |
5/16 |
- |
1 |
2-47641490-C-A |
c.875C>A |
p.T292N |
Missense |
5/16 |
- |
1 |
2-47641490-C-T |
c.875C>T |
p.T292I |
Missense |
5/16 |
- |
2 |
2-47641491-T-TC |
c.876_877insC |
p.T293Hfs*3 |
Frameshift |
5/16 |
- |
2 |
2-47641492-A-G |
c.877A>G |
p.T293A |
Missense |
5/16 |
- |
2 |
2-47641492-A-C |
c.877A>C |
p.T293P |
Missense |
5/16 |
- |
1 |
2-47641492-A-T |
c.877A>T |
p.T293S |
Missense |
5/16 |
- |
1 |
2-47641493-C-G |
c.878C>G |
p.T293S |
Missense |
5/16 |
- |
1 |
2-47641493-C-A |
c.878C>A |
p.T293N |
Missense |
5/16 |
- |
1 |
2-47641493-C-T |
c.878C>T |
p.T293I |
Missense |
5/16 |
- |
2 |
2-47641495-T-A |
c.880T>A |
p.F294I |
Missense |
5/16 |
- |
1 |
2-47641495-T-C |
c.880T>C |
p.F294L |
Missense |
5/16 |
- |
1 |
2-47641495-T-G |
c.880T>G |
p.F294V |
Missense |
5/16 |
- |
1 |
2-47641496-T-C |
c.881T>C |
p.F294S |
Missense |
5/16 |
- |
2 |
2-47641496-T-A |
c.881T>A |
p.F294Y |
Missense |
5/16 |
- |
1 |
2-47641496-T-G |
c.881T>G |
p.F294C |
Missense |
5/16 |
- |
1 |
2-47641493-CTT-C |
c.881_882del |
p.F294* |
Frameshift |
5/16 |
- |
1 |
2-47641493-CT-C |
c.882del |
p.F294Lfs*7 |
Frameshift |
5/16 |
- |
1 |
2-47641493-C-CT |
c.882dup |
p.D295* |
Nonsense |
5/16 |
- |
1 |
2-47641497-T-A |
c.882T>A |
p.F294L |
Missense |
5/16 |
- |
1 |
2-47641497-T-G |
c.882T>G |
p.F294L |
Missense |
5/16 |
- |
1 |
2-47641498-G-A |
c.883G>A |
p.D295N |
Missense |
5/16 |
- |
1 |
2-47641498-G-C |
c.883G>C |
p.D295H |
Missense |
5/16 |
- |
1 |
2-47641498-G-T |
c.883G>T |
p.D295Y |
Missense |
5/16 |
- |
2 |
2-47641499-A-C |
c.884A>C |
p.D295A |
Missense |
5/16 |
- |
1 |
2-47641499-A-G |
c.884A>G |
p.D295G |
Missense |
5/16 |
- |
2 |
2-47641499-A-T |
c.884A>T |
p.D295V |
Missense |
5/16 |
- |
1 |
2-47641500-C-A |
c.885C>A |
p.D295E |
Missense |
5/16 |
- |
1 |
2-47641500-C-G |
c.885C>G |
p.D295E |
Missense |
5/16 |
- |
1 |
2-47641501-T-A |
c.886T>A |
p.F296I |
Missense |
5/16 |
- |
1 |
2-47641501-T-C |
c.886T>C |
p.F296L |
Missense |
5/16 |
- |
1 |
2-47641501-T-G |
c.886T>G |
p.F296V |
Missense |
5/16 |
- |
1 |
2-47641502-T-A |
c.887T>A |
p.F296Y |
Missense |
5/16 |
- |
1 |
2-47641502-T-C |
c.887T>C |
p.F296S |
Missense |
5/16 |
- |
1 |
2-47641502-T-G |
c.887T>G |
p.F296C |
Missense |
5/16 |
- |
1 |
2-47641503-C-A |
c.888C>A |
p.F296L |
Missense |
5/16 |
- |
1 |
2-47641503-C-G |
c.888C>G |
p.F296L |
Missense |
5/16 |
- |
1 |
2-47641504-A-C |
c.889A>C |
p.S297R |
Missense |
5/16 |
- |
1 |
2-47641504-A-G |
c.889A>G |
p.S297G |
Missense |
5/16 |
- |
1 |
2-47641504-A-T |
c.889A>T |
p.S297C |
Missense |
5/16 |
- |
1 |
2-47641505-G-A |
c.890G>A |
p.S297N |
Missense |
5/16 |
- |
1 |
2-47641505-G-C |
c.890G>C |
p.S297T |
Missense |
5/16 |
- |
1 |
2-47641505-G-T |
c.890G>T |
p.S297I |
Missense |
5/16 |
- |
1 |
2-47641506-C-A |
c.891C>A |
p.S297R |
Missense |
5/16 |
- |
1 |
2-47641506-C-G |
c.891C>G |
p.S297R |
Missense |
5/16 |
- |
1 |
2-47641507-C-T |
c.892C>T |
p.Q298* |
Nonsense |
5/16 |
- |
9 |
2-47641507-C-A |
c.892C>A |
p.Q298K |
Missense |
5/16 |
- |
1 |
2-47641507-C-G |
c.892C>G |
p.Q298E |
Missense |
5/16 |
- |
1 |
2-47641508-A-G |
c.893A>G |
p.Q298R |
Missense |
5/16 |
- |
2 |
2-47641508-A-C |
c.893A>C |
p.Q298P |
Missense |
5/16 |
- |
1 |
2-47641508-A-T |
c.893A>T |
p.Q298L |
Missense |
5/16 |
- |
1 |
2-47641510-T-A |
c.895T>A |
p.Y299N |
Missense |
5/16 |
- |
1 |
2-47641510-T-C |
c.895T>C |
p.Y299H |
Missense |
5/16 |
- |
2 |
2-47641511-A-G |
c.896A>G |
p.Y299C |
Missense |
5/16 |
- |
2 |
2-47641511-A-C |
c.896A>C |
p.Y299S |
Missense |
5/16 |
- |
1 |
2-47641511-A-T |
c.896A>T |
p.Y299F |
Missense |
5/16 |
- |
1 |
2-47641513-A-C |
c.898A>C |
p.M300L |
Missense |
5/16 |
- |
1 |
2-47641513-A-T |
c.898A>T |
p.M300L |
Missense |
5/16 |
- |
1 |
2-47641513-A-G |
c.898A>G |
p.M300V |
Missense |
5/16 |
- |
1 |
2-47641514-T-A |
c.899T>A |
p.M300K |
Missense |
5/16 |
- |
1 |
2-47641514-T-C |
c.899T>C |
p.M300T |
Missense |
5/16 |
- |
1 |
2-47641514-T-G |
c.899T>G |
p.M300R |
Missense |
5/16 |
- |
1 |
2-47641515-G-A |
c.900G>A |
p.M300I |
Missense |
5/16 |
- |
1 |
2-47641515-G-C |
c.900G>C |
p.M300I |
Missense |
5/16 |
- |
1 |
2-47641515-G-T |
c.900G>T |
p.M300I |
Missense |
5/16 |
- |
1 |
2-47641516-A-C |
c.901A>C |
p.K301Q |
Missense |
5/16 |
- |
1 |
2-47641517-A-C |
c.902A>C |
p.K301T |
Missense |
5/16 |
- |
1 |
2-47641517-A-G |
c.902A>G |
p.K301R |
Missense |
5/16 |
- |
1 |
2-47641517-A-T |
c.902A>T |
p.K301I |
Missense |
5/16 |
- |
1 |
2-47641518-A-C |
c.903A>C |
p.K301N |
Missense |
5/16 |
- |
1 |
2-47641518-A-T |
c.903A>T |
p.K301N |
Missense |
5/16 |
- |
1 |
2-47641519-T-A |
c.904T>A |
p.L302M |
Missense |
5/16 |
- |
1 |
2-47641519-T-G |
c.904T>G |
p.L302V |
Missense |
5/16 |
- |
1 |
2-47641520-T-C |
c.905T>C |
p.L302S |
Missense |
5/16 |
- |
2 |
2-47641520-T-G |
c.905T>G |
p.L302W |
Missense |
5/16 |
- |
1 |
2-47641520-T-A |
c.905T>A |
p.L302* |
Nonsense |
5/16 |
- |
1 |
2-47641521-G-C |
c.906G>C |
p.L302F |
Missense |
5/16 |
- |
1 |
2-47641521-G-T |
c.906G>T |
p.L302F |
Missense |
5/16 |
- |
1 |
2-47641522-G-A |
c.907G>A |
p.D303N |
Missense |
5/16 |
- |
1 |
2-47641522-G-C |
c.907G>C |
p.D303H |
Missense |
5/16 |
- |
1 |
2-47641523-A-C |
c.908A>C |
p.D303A |
Missense |
5/16 |
- |
1 |
2-47641523-A-G |
c.908A>G |
p.D303G |
Missense |
5/16 |
- |
1 |
2-47641523-A-T |
c.908A>T |
p.D303V |
Missense |
5/16 |
- |
1 |
2-47641524-T-A |
c.909T>A |
p.D303E |
Missense |
5/16 |
- |
1 |
2-47641524-T-G |
c.909T>G |
p.D303E |
Missense |
5/16 |
- |
1 |
2-47641525-A-C |
c.910A>C |
p.I304L |
Missense |
5/16 |
- |
1 |
2-47641525-A-G |
c.910A>G |
p.I304V |
Missense |
5/16 |
- |
1 |
2-47641525-A-T |
c.910A>T |
p.I304F |
Missense |
5/16 |
- |
1 |
2-47641526-T-A |
c.911T>A |
p.I304N |
Missense |
5/16 |
- |
1 |
2-47641526-T-C |
c.911T>C |
p.I304T |
Missense |
5/16 |
- |
1 |
2-47641526-T-G |
c.911T>G |
p.I304S |
Missense |
5/16 |
- |
1 |
2-47641527-T-G |
c.912T>G |
p.I304M |
Missense |
5/16 |
- |
1 |
2-47641528-G-A |
c.913G>A |
p.A305T |
Missense |
5/16 |
- |
3 |
2-47641528-G-C |
c.913G>C |
p.A305P |
Missense |
5/16 |
- |
1 |
2-47641528-G-T |
c.913G>T |
p.A305S |
Missense |
5/16 |
- |
1 |
2-47641529-C-A |
c.914C>A |
p.A305E |
Missense |
5/16 |
- |
1 |
2-47641529-C-G |
c.914C>G |
p.A305G |
Missense |
5/16 |
- |
1 |
2-47641529-C-T |
c.914C>T |
p.A305V |
Missense |
5/16 |
- |
1 |
2-47641527-TGCAGCAGTCA-T |
c.914_923del |
p.A305Efs*23 |
Frameshift |
5/16 |
- |
1 |
2-47641531-G-A |
c.916G>A |
p.A306T |
Missense |
5/16 |
- |
1 |
2-47641531-G-C |
c.916G>C |
p.A306P |
Missense |
5/16 |
- |
1 |
2-47641531-G-T |
c.916G>T |
p.A306S |
Missense |
5/16 |
- |
1 |
2-47641532-C-A |
c.917C>A |
p.A306E |
Missense |
5/16 |
- |
1 |
2-47641532-C-G |
c.917C>G |
p.A306G |
Missense |
5/16 |
- |
1 |
2-47641532-C-T |
c.917C>T |
p.A306V |
Missense |
5/16 |
- |
1 |
2-47641534-G-A |
c.919G>A |
p.V307I |
Missense |
5/16 |
- |
2 |
2-47641534-G-C |
c.919G>C |
p.V307L |
Missense |
5/16 |
- |
1 |
2-47641534-G-T |
c.919G>T |
p.V307F |
Missense |
5/16 |
- |
1 |
2-47641535-T-C |
c.920T>C |
p.V307A |
Missense |
5/16 |
- |
1 |
2-47641535-T-G |
c.920T>G |
p.V307G |
Missense |
5/16 |
- |
1 |
2-47641537-A-G |
c.922A>G |
p.R308G |
Missense |
5/16 |
- |
1 |
2-47641538-G-A |
c.923G>A |
p.R308K |
Missense |
5/16 |
- |
2 |
2-47641538-G-C |
c.923G>C |
p.R308T |
Missense |
5/16 |
- |
1 |
2-47641538-G-T |
c.923G>T |
p.R308I |
Missense |
5/16 |
- |
1 |
2-47641539-A-C |
c.924A>C |
p.R308S |
Missense |
5/16 |
- |
1 |
2-47641539-A-T |
c.924A>T |
p.R308S |
Missense |
5/16 |
- |
1 |
2-47641540-G-A |
c.925G>A |
p.A309T |
Missense |
5/16 |
- |
1 |
2-47641540-G-C |
c.925G>C |
p.A309P |
Missense |
5/16 |
- |
1 |
2-47641540-G-T |
c.925G>T |
p.A309S |
Missense |
5/16 |
- |
1 |
2-47641541-C-T |
c.926C>T |
p.A309V |
Missense |
5/16 |
- |
2 |
2-47641541-C-G |
c.926C>G |
p.A309G |
Missense |
5/16 |
- |
2 |
2-47641541-C-A |
c.926C>A |
p.A309D |
Missense |
5/16 |
- |
1 |
2-47641543-C-A |
c.928C>A |
p.L310I |
Missense |
5/16 |
- |
1 |
2-47641543-C-G |
c.928C>G |
p.L310V |
Missense |
5/16 |
- |
1 |
2-47641544-T-G |
c.929T>G |
p.L310R |
Missense |
5/16 |
- |
2 |
2-47641544-T-C |
c.929T>C |
p.L310P |
Missense |
5/16 |
- |
3 |
2-47641544-T-A |
c.929T>A |
p.L310H |
Missense |
5/16 |
- |
1 |
2-47641546-A-C |
c.931A>C |
p.N311H |
Missense |
5/16 |
- |
1 |
2-47641546-A-G |
c.931A>G |
p.N311D |
Missense |
5/16 |
- |
1 |
2-47641546-A-T |
c.931A>T |
p.N311Y |
Missense |
5/16 |
- |
1 |
2-47641545-TA-T |
c.932del |
p.N311Tfs*20 |
Frameshift |
5/16 |
- |
1 |
2-47641547-A-C |
c.932A>C |
p.N311T |
Missense |
5/16 |
- |
1 |
2-47641547-A-G |
c.932A>G |
p.N311S |
Missense |
5/16 |
- |
1 |
2-47641547-A-T |
c.932A>T |
p.N311I |
Missense |
5/16 |
- |
1 |
2-47641548-C-A |
c.933C>A |
p.N311K |
Missense |
5/16 |
- |
1 |
2-47641548-C-G |
c.933C>G |
p.N311K |
Missense |
5/16 |
- |
1 |
2-47641549-C-A |
c.934C>A |
p.L312I |
Missense |
5/16 |
- |
1 |
2-47641549-C-G |
c.934C>G |
p.L312V |
Missense |
5/16 |
- |
1 |
2-47641549-C-T |
c.934C>T |
p.L312F |
Missense |
5/16 |
- |
1 |
2-47641550-T-A |
c.935T>A |
p.L312H |
Missense |
5/16 |
- |
1 |
2-47641550-T-C |
c.935T>C |
p.L312P |
Missense |
5/16 |
- |
1 |
2-47641550-T-G |
c.935T>G |
p.L312R |
Missense |
5/16 |
- |
1 |
2-47641552-T-A |
c.937T>A |
p.F313I |
Missense |
5/16 |
- |
1 |
2-47641552-T-C |
c.937T>C |
p.F313L |
Missense |
5/16 |
- |
1 |
2-47641552-T-G |
c.937T>G |
p.F313V |
Missense |
5/16 |
- |
1 |
2-47641553-T-A |
c.938T>A |
p.F313Y |
Missense |
5/16 |
- |
1 |
2-47641553-T-C |
c.938T>C |
p.F313S |
Missense |
5/16 |
- |
1 |
2-47641553-T-G |
c.938T>G |
p.F313C |
Missense |
5/16 |
- |
1 |
2-47641549-CT-C |
c.939del |
p.Q314Rfs*17 |
Frameshift |
5/16 |
- |
1 |
2-47641554-T-A |
c.939T>A |
p.F313L |
Missense |
5/16 |
- |
1 |
2-47641554-T-G |
c.939T>G |
p.F313L |
Missense |
5/16 |
- |
1 |
2-47641554-T-TC |
c.940dup |
p.Q314Pfs*5 |
SpliceDonorInsertion |
5/16 |
- |
1 |
2-47641555-C-A |
c.940C>A |
p.Q314K |
Missense |
5/16 |
- |
1 |
2-47641555-C-G |
c.940C>G |
p.Q314E |
Missense |
5/16 |
- |
1 |
2-47641555-C-T |
c.940C>T |
p.Q314* |
Nonsense |
5/16 |
- |
1 |
2-47641555-TCAG-T |
c.940_942del |
p.Q314del |
InFrameDeletion |
5/16 |
- |
1 |
2-47641558-G-C |
c.942+1G>C |
- |
IntronicSNV |
- |
5/15 |
1 |
2-47641558-GGTAA-G |
c.942+1_942+4del |
- |
SpliceDonorDeletion |
- |
5/15 |
1 |
2-47641558-G-T |
c.942+1G>T |
- |
IntronicSNV |
- |
5/15 |
1 |
2-47641559-T-A |
c.942+2T>A |
- |
IntronicSNV |
- |
5/15 |
2 |
2-47641559-GT-G |
c.942+2del |
- |
IntronicDeletion |
- |
5/15 |
2 |
2-47641559-GTAAAAAA-G |
c.942+2_942+8del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641559-GTAAAAA-G |
c.942+2_942+7del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641559-T-C |
c.942+2T>C |
- |
IntronicSNV |
- |
5/15 |
1 |
2-47641559-T-G |
c.942+2T>G |
- |
IntronicSNV |
- |
5/15 |
2 |
2-47641560-A-T |
c.942+3A>T |
- |
IntronicSNV |
- |
5/15 |
49 |
2-47641560-A-G |
c.942+3A>G |
- |
IntronicSNV |
- |
5/15 |
2 |
2-47641565-A-T |
c.942+8A>T |
- |
IntronicSNV |
- |
5/15 |
1 |
2-47641566-A-G |
c.942+9A>G |
- |
IntronicSNV |
- |
5/15 |
1 |
2-47641559-TAAAAAAAAAAAAAA-T |
c.942+16_942+29del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641559-TAAAAAAAAAAAA-T |
c.942+18_942+29del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641559-TAAAAAA-T |
c.942+24_942+29del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641556-A-AGGTAAAAAAAAAAAAAAAAAAAAAAAGG |
c.942+25_942+26insGGGGTAAAAAAAAAAAAAAAAAAAAAAA |
- |
SpliceDonorInsertion |
- |
5/15 |
1 |
2-47641559-TAAAAA-T |
c.942+25_942+29del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641559-TAAAA-T |
c.942+26_942+29del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641559-TAAA-T |
c.942+27_942+29del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641603-A-G |
c.942+46A>G |
- |
IntronicSNV |
- |
5/15 |
1 |
2-47641628-A-C |
c.942+71A>C |
- |
IntronicSNV |
- |
5/15 |
1 |
2-47641902-GGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTC-G |
c.942+345_942+403del |
- |
Unclassified |
- |
5/15 |
1 |
2-47643434-G-A |
c.943-1G>A |
- |
IntronicSNV |
- |
5/15 |
3 |
2-47643434-G-C |
c.943-1G>C |
- |
IntronicSNV |
- |
5/15 |
3 |
2-47643434-G-T |
c.943-1G>T |
- |
IntronicSNV |
- |
5/15 |
3 |
2-47643435-G-C |
c.943G>C |
p.G315R |
Missense |
6/16 |
- |
1 |
2-47643436-G-T |
c.944G>T |
p.G315V |
Missense |
6/16 |
- |
6 |
2-47643436-G-A |
c.944G>A |
p.G315D |
Missense |
6/16 |
- |
3 |
2-47643438-TC-AT |
c.946_947delinsAT |
p.S316I |
Missense |
6/16 |
- |
3 |
2-47643438-T-A |
c.946T>A |
p.S316T |
Missense |
6/16 |
- |
1 |
2-47643438-T-C |
c.946T>C |
p.S316P |
Missense |
6/16 |
- |
1 |
2-47643438-T-G |
c.946T>G |
p.S316A |
Missense |
6/16 |
- |
1 |
2-47643439-C-A |
c.947C>A |
p.S316Y |
Missense |
6/16 |
- |
1 |
2-47643439-C-G |
c.947C>G |
p.S316C |
Missense |
6/16 |
- |
1 |
2-47643439-C-T |
c.947C>T |
p.S316F |
Missense |
6/16 |
- |
1 |
2-47643441-G-C |
c.949G>C |
p.V317L |
Missense |
6/16 |
- |
3 |
2-47643441-G-A |
c.949G>A |
p.V317I |
Missense |
6/16 |
- |
1 |
2-47643441-G-T |
c.949G>T |
p.V317F |
Missense |
6/16 |
- |
1 |
2-47643442-T-A |
c.950T>A |
p.V317D |
Missense |
6/16 |
- |
1 |
2-47643442-T-C |
c.950T>C |
p.V317A |
Missense |
6/16 |
- |
1 |
2-47643442-T-G |
c.950T>G |
p.V317G |
Missense |
6/16 |
- |
1 |
2-47643444-G-A |
c.952G>A |
p.E318K |
Missense |
6/16 |
- |
6 |
2-47643444-G-C |
c.952G>C |
p.E318Q |
Missense |
6/16 |
- |
1 |
2-47643445-A-C |
c.953A>C |
p.E318A |
Missense |
6/16 |
- |
1 |
2-47643445-A-G |
c.953A>G |
p.E318G |
Missense |
6/16 |
- |
1 |
2-47643445-A-T |
c.953A>T |
p.E318V |
Missense |
6/16 |
- |
1 |
2-47643447-G-A |
c.955G>A |
p.D319N |
Missense |
6/16 |
- |
1 |
2-47643447-G-C |
c.955G>C |
p.D319H |
Missense |
6/16 |
- |
1 |
2-47643447-G-T |
c.955G>T |
p.D319Y |
Missense |
6/16 |
- |
1 |
2-47643448-A-C |
c.956A>C |
p.D319A |
Missense |
6/16 |
- |
1 |
2-47643448-A-G |
c.956A>G |
p.D319G |
Missense |
6/16 |
- |
1 |
2-47643448-A-T |
c.956A>T |
p.D319V |
Missense |
6/16 |
- |
2 |
2-47643449-T-A |
c.957T>A |
p.D319E |
Missense |
6/16 |
- |
1 |
2-47643449-T-G |
c.957T>G |
p.D319E |
Missense |
6/16 |
- |
1 |
2-47643450-A-C |
c.958A>C |
p.T320P |
Missense |
6/16 |
- |
1 |
2-47643450-A-G |
c.958A>G |
p.T320A |
Missense |
6/16 |
- |
1 |
2-47643450-A-T |
c.958A>T |
p.T320S |
Missense |
6/16 |
- |
1 |
2-47643450-AC-GG |
c.958_959delinsGG |
p.T320G |
Missense |
6/16 |
- |
1 |
2-47643451-C-G |
c.959C>G |
p.T320S |
Missense |
6/16 |
- |
1 |
2-47643451-C-A |
c.959C>A |
p.T320N |
Missense |
6/16 |
- |
1 |
2-47643451-C-T |
c.959C>T |
p.T320I |
Missense |
6/16 |
- |
1 |
2-47643453-A-C |
c.961A>C |
p.T321P |
Missense |
6/16 |
- |
1 |
2-47643453-A-G |
c.961A>G |
p.T321A |
Missense |
6/16 |
- |
2 |
2-47643453-A-T |
c.961A>T |
p.T321S |
Missense |
6/16 |
- |
1 |
2-47643454-C-G |
c.962C>G |
p.T321S |
Missense |
6/16 |
- |
1 |
2-47643454-C-A |
c.962C>A |
p.T321N |
Missense |
6/16 |
- |
1 |
2-47643454-C-T |
c.962C>T |
p.T321I |
Missense |
6/16 |
- |
1 |
2-47643456-G-A |
c.964G>A |
p.G322S |
Missense |
6/16 |
- |
1 |
2-47643456-G-C |
c.964G>C |
p.G322R |
Missense |
6/16 |
- |
1 |
2-47643456-G-T |
c.964G>T |
p.G322C |
Missense |
6/16 |
- |
1 |
2-47643457-G-A |
c.965G>A |
p.G322D |
Missense |
6/16 |
- |
59 |
2-47643457-G-T |
c.965G>T |
p.G322V |
Missense |
6/16 |
- |
10 |
2-47643457-G-C |
c.965G>C |
p.G322A |
Missense |
6/16 |
- |
1 |
2-47643458-C-T |
c.966C>T |
p.G322= |
Synonymous |
6/16 |
- |
1 |
2-47643458-C-G |
c.966C>G |
p.G322= |
Synonymous |
6/16 |
- |
1 |
2-47643458-C-A |
c.966C>A |
p.G322= |
Synonymous |
6/16 |
- |
1 |
2-47643459-T-A |
c.967T>A |
p.S323T |
Missense |
6/16 |
- |
1 |
2-47643459-T-C |
c.967T>C |
p.S323P |
Missense |
6/16 |
- |
1 |
2-47643459-T-G |
c.967T>G |
p.S323A |
Missense |
6/16 |
- |
1 |
2-47643460-C-T |
c.968C>T |
p.S323F |
Missense |
6/16 |
- |
2 |
2-47643460-C-G |
c.968C>G |
p.S323C |
Missense |
6/16 |
- |
2 |
2-47643460-C-A |
c.968C>A |
p.S323Y |
Missense |
6/16 |
- |
3 |
2-47643457-GCT-G |
c.969_970del |
p.Q324Vfs*8 |
Frameshift |
6/16 |
- |
2 |
2-47643462-C-G |
c.970C>G |
p.Q324E |
Missense |
6/16 |
- |
2 |
2-47643462-C-T |
c.970C>T |
p.Q324* |
Nonsense |
6/16 |
- |
3 |
2-47643462-C-A |
c.970C>A |
p.Q324K |
Missense |
6/16 |
- |
1 |
2-47643463-A-C |
c.971A>C |
p.Q324P |
Missense |
6/16 |
- |
1 |
2-47643463-A-G |
c.971A>G |
p.Q324R |
Missense |
6/16 |
- |
3 |
2-47643463-A-T |
c.971A>T |
p.Q324L |
Missense |
6/16 |
- |
1 |
2-47643464-G-C |
c.972G>C |
p.Q324H |
Missense |
6/16 |
- |
7 |
2-47643464-G-T |
c.972G>T |
p.Q324H |
Missense |
6/16 |
- |
6 |
2-47643464-G-A |
c.972G>A |
p.Q324= |
Synonymous |
6/16 |
- |
2 |
2-47643465-T-A |
c.973T>A |
p.S325T |
Missense |
6/16 |
- |
1 |
2-47643465-T-C |
c.973T>C |
p.S325P |
Missense |
6/16 |
- |
1 |
2-47643465-T-G |
c.973T>G |
p.S325A |
Missense |
6/16 |
- |
1 |
2-47643466-C-A |
c.974C>A |
p.S325Y |
Missense |
6/16 |
- |
1 |
2-47643466-C-G |
c.974C>G |
p.S325C |
Missense |
6/16 |
- |
1 |
2-47643466-C-T |
c.974C>T |
p.S325F |
Missense |
6/16 |
- |
1 |
2-47643468-C-A |
c.976C>A |
p.L326M |
Missense |
6/16 |
- |
1 |
2-47643468-C-G |
c.976C>G |
p.L326V |
Missense |
6/16 |
- |
1 |
2-47643469-T-A |
c.977T>A |
p.L326Q |
Missense |
6/16 |
- |
1 |
2-47643469-T-C |
c.977T>C |
p.L326P |
Missense |
6/16 |
- |
1 |
2-47643469-T-G |
c.977T>G |
p.L326R |
Missense |
6/16 |
- |
1 |
2-47643471-G-A |
c.979G>A |
p.A327T |
Missense |
6/16 |
- |
1 |
2-47643471-G-C |
c.979G>C |
p.A327P |
Missense |
6/16 |
- |
1 |
2-47643471-G-T |
c.979G>T |
p.A327S |
Missense |
6/16 |
- |
1 |
2-47643472-C-A |
c.980C>A |
p.A327D |
Missense |
6/16 |
- |
1 |
2-47643472-C-G |
c.980C>G |
p.A327G |
Missense |
6/16 |
- |
1 |
2-47643472-C-T |
c.980C>T |
p.A327V |
Missense |
6/16 |
- |
1 |
2-47643474-G-A |
c.982G>A |
p.A328T |
Missense |
6/16 |
- |
1 |
2-47643474-G-C |
c.982G>C |
p.A328P |
Missense |
6/16 |
- |
3 |
2-47643474-G-T |
c.982G>T |
p.A328S |
Missense |
6/16 |
- |
1 |
2-47643475-C-A |
c.983C>A |
p.A328D |
Missense |
6/16 |
- |
1 |
2-47643475-C-G |
c.983C>G |
p.A328G |
Missense |
6/16 |
- |
1 |
2-47643475-C-T |
c.983C>T |
p.A328V |
Missense |
6/16 |
- |
1 |
2-47643476-C-T |
c.984C>T |
p.A328= |
Synonymous |
6/16 |
- |
4 |
2-47643476-C-A |
c.984C>A |
p.A328= |
Synonymous |
6/16 |
- |
3 |
2-47643476-C-G |
c.984C>G |
p.A328= |
Synonymous |
6/16 |
- |
3 |
2-47643477-T-A |
c.985T>A |
p.L329M |
Missense |
6/16 |
- |
1 |
2-47643477-T-G |
c.985T>G |
p.L329V |
Missense |
6/16 |
- |
1 |
2-47643478-T-C |
c.986T>C |
p.L329S |
Missense |
6/16 |
- |
1 |
2-47643478-T-G |
c.986T>G |
p.L329W |
Missense |
6/16 |
- |
1 |
2-47643479-G-C |
c.987G>C |
p.L329F |
Missense |
6/16 |
- |
1 |
2-47643479-G-T |
c.987G>T |
p.L329F |
Missense |
6/16 |
- |
1 |
2-47643480-C-A |
c.988C>A |
p.L330M |
Missense |
6/16 |
- |
1 |
2-47643480-C-G |
c.988C>G |
p.L330V |
Missense |
6/16 |
- |
1 |
2-47643481-T-C |
c.989T>C |
p.L330P |
Missense |
6/16 |
- |
3 |
2-47643481-T-A |
c.989T>A |
p.L330Q |
Missense |
6/16 |
- |
1 |
2-47643481-T-G |
c.989T>G |
p.L330R |
Missense |
6/16 |
- |
1 |
2-47643480-C-CT |
c.989dup |
p.N331Efs*2 |
Frameshift |
6/16 |
- |
1 |
2-47643483-A-G |
c.991A>G |
p.N331D |
Missense |
6/16 |
- |
2 |
2-47643483-A-C |
c.991A>C |
p.N331H |
Missense |
6/16 |
- |
1 |
2-47643483-A-T |
c.991A>T |
p.N331Y |
Missense |
6/16 |
- |
1 |
2-47643484-A-C |
c.992A>C |
p.N331T |
Missense |
6/16 |
- |
2 |
2-47643484-A-G |
c.992A>G |
p.N331S |
Missense |
6/16 |
- |
2 |
2-47643484-A-T |
c.992A>T |
p.N331I |
Missense |
6/16 |
- |
1 |
2-47643485-T-A |
c.993T>A |
p.N331K |
Missense |
6/16 |
- |
1 |
2-47643485-T-G |
c.993T>G |
p.N331K |
Missense |
6/16 |
- |
1 |
2-47643486-A-T |
c.994A>T |
p.K332* |
Nonsense |
6/16 |
- |
1 |
2-47643486-A-C |
c.994A>C |
p.K332Q |
Missense |
6/16 |
- |
1 |
2-47643486-A-G |
c.994A>G |
p.K332E |
Missense |
6/16 |
- |
1 |
2-47643487-A-C |
c.995A>C |
p.K332T |
Missense |
6/16 |
- |
1 |
2-47643487-A-G |
c.995A>G |
p.K332R |
Missense |
6/16 |
- |
1 |
2-47643487-A-T |
c.995A>T |
p.K332M |
Missense |
6/16 |
- |
1 |
2-47643488-G-C |
c.996G>C |
p.K332N |
Missense |
6/16 |
- |
1 |
2-47643488-G-T |
c.996G>T |
p.K332N |
Missense |
6/16 |
- |
1 |
2-47643488-G-A |
c.996G>A |
p.K332= |
Synonymous |
6/16 |
- |
1 |
2-47643489-T-A |
c.997T>A |
p.C333S |
Missense |
6/16 |
- |
1 |
2-47643489-T-C |
c.997T>C |
p.C333R |
Missense |
6/16 |
- |
3 |
2-47643489-T-G |
c.997T>G |
p.C333G |
Missense |
6/16 |
- |
1 |
2-47643489-TG-AC |
c.997_998delinsAC |
p.C333T |
Missense |
6/16 |
- |
1 |
2-47643490-G-A |
c.998G>A |
p.C333Y |
Missense |
6/16 |
- |
8 |
2-47643490-G-C |
c.998G>C |
p.C333S |
Missense |
6/16 |
- |
1 |
2-47643490-G-T |
c.998G>T |
p.C333F |
Missense |
6/16 |
- |
1 |
2-47643491-T-G |
c.999T>G |
p.C333W |
Missense |
6/16 |
- |
2 |
2-47643492-A-G |
c.1000A>G |
p.K334E |
Missense |
6/16 |
- |
1 |
2-47643493-A-C |
c.1001A>C |
p.K334T |
Missense |
6/16 |
- |
1 |
2-47643493-A-G |
c.1001A>G |
p.K334R |
Missense |
6/16 |
- |
1 |
2-47643493-A-T |
c.1001A>T |
p.K334I |
Missense |
6/16 |
- |
1 |
2-47643494-A-C |
c.1002A>C |
p.K334N |
Missense |
6/16 |
- |
1 |
2-47643494-A-T |
c.1002A>T |
p.K334N |
Missense |
6/16 |
- |
1 |
2-47643495-A-C |
c.1003A>C |
p.T335P |
Missense |
6/16 |
- |
1 |
2-47643495-A-G |
c.1003A>G |
p.T335A |
Missense |
6/16 |
- |
1 |
2-47643495-A-T |
c.1003A>T |
p.T335S |
Missense |
6/16 |
- |
1 |
2-47643491-T-TA |
c.1003dup |
p.T335Nfs*9 |
Frameshift |
6/16 |
- |
1 |
2-47643496-C-T |
c.1004C>T |
p.T335I |
Missense |
6/16 |
- |
3 |
2-47643496-C-G |
c.1004C>G |
p.T335S |
Missense |
6/16 |
- |
1 |
2-47643498-C-T |
c.1006C>T |
p.P336S |
Missense |
6/16 |
- |
3 |
2-47643498-C-A |
c.1006C>A |
p.P336T |
Missense |
6/16 |
- |
2 |
2-47643498-C-G |
c.1006C>G |
p.P336A |
Missense |
6/16 |
- |
2 |
2-47643499-C-A |
c.1007C>A |
p.P336H |
Missense |
6/16 |
- |
1 |
2-47643499-C-G |
c.1007C>G |
p.P336R |
Missense |
6/16 |
- |
1 |
2-47643499-C-T |
c.1007C>T |
p.P336L |
Missense |
6/16 |
- |
1 |
2-47643501-C-T |
c.1009C>T |
p.Q337* |
Nonsense |
6/16 |
- |
3 |
2-47643501-C-G |
c.1009C>G |
p.Q337E |
Missense |
6/16 |
- |
2 |
2-47643501-C-A |
c.1009C>A |
p.Q337K |
Missense |
6/16 |
- |
1 |
2-47643502-A-C |
c.1010A>C |
p.Q337P |
Missense |
6/16 |
- |
1 |
2-47643502-A-G |
c.1010A>G |
p.Q337R |
Missense |
6/16 |
- |
1 |
2-47643502-A-T |
c.1010A>T |
p.Q337L |
Missense |
6/16 |
- |
1 |
2-47643503-A-C |
c.1011A>C |
p.Q337H |
Missense |
6/16 |
- |
1 |
2-47643503-A-T |
c.1011A>T |
p.Q337H |
Missense |
6/16 |
- |
1 |
2-47643504-G-A |
c.1012G>A |
p.G338R |
Missense |
6/16 |
- |
4 |
2-47643504-G-C |
c.1012G>C |
p.G338R |
Missense |
6/16 |
- |
2 |
2-47643505-G-A |
c.1013G>A |
p.G338E |
Missense |
6/16 |
- |
4 |
2-47643505-G-C |
c.1013G>C |
p.G338A |
Missense |
6/16 |
- |
1 |
2-47643505-G-T |
c.1013G>T |
p.G338V |
Missense |
6/16 |
- |
1 |
2-47643506-A-T |
c.1014A>T |
p.G338= |
Synonymous |
6/16 |
- |
1 |
2-47643506-A-G |
c.1014A>G |
p.G338= |
Synonymous |
6/16 |
- |
1 |
2-47643506-A-C |
c.1014A>C |
p.G338= |
Synonymous |
6/16 |
- |
1 |
2-47643507-C-A |
c.1015C>A |
p.Q339K |
Missense |
6/16 |
- |
1 |
2-47643507-C-G |
c.1015C>G |
p.Q339E |
Missense |
6/16 |
- |
1 |
2-47643508-A-G |
c.1016A>G |
p.Q339R |
Missense |
6/16 |
- |
1 |
2-47643508-A-T |
c.1016A>T |
p.Q339L |
Missense |
6/16 |
- |
1 |
2-47643509-A-C |
c.1017A>C |
p.Q339H |
Missense |
6/16 |
- |
1 |
2-47643509-A-T |
c.1017A>T |
p.Q339H |
Missense |
6/16 |
- |
1 |
2-47643510-A-G |
c.1018A>G |
p.R340G |
Missense |
6/16 |
- |
1 |
2-47643511-G-A |
c.1019G>A |
p.R340K |
Missense |
6/16 |
- |
1 |
2-47643511-G-C |
c.1019G>C |
p.R340T |
Missense |
6/16 |
- |
1 |
2-47643511-G-T |
c.1019G>T |
p.R340I |
Missense |
6/16 |
- |
1 |
2-47643512-A-C |
c.1020A>C |
p.R340S |
Missense |
6/16 |
- |
1 |
2-47643512-A-T |
c.1020A>T |
p.R340S |
Missense |
6/16 |
- |
1 |
2-47643513-CT-GC |
c.1021_1022delinsGC |
p.L341A |
Missense |
6/16 |
- |
1 |
2-47643513-C-A |
c.1021C>A |
p.L341I |
Missense |
6/16 |
- |
1 |
2-47643513-C-G |
c.1021C>G |
p.L341V |
Missense |
6/16 |
- |
1 |
2-47643513-C-T |
c.1021C>T |
p.L341F |
Missense |
6/16 |
- |
1 |
2-47643514-T-A |
c.1022T>A |
p.L341H |
Missense |
6/16 |
- |
2 |
2-47643514-T-C |
c.1022T>C |
p.L341P |
Missense |
6/16 |
- |
3 |
2-47643514-T-G |
c.1022T>G |
p.L341R |
Missense |
6/16 |
- |
1 |
2-47643515-T-G |
c.1023T>G |
p.L341= |
Synonymous |
6/16 |
- |
1 |
2-47643516-TG-T |
c.1024del |
p.V342Lfs*15 |
Frameshift |
6/16 |
- |
1 |
2-47643516-G-A |
c.1024G>A |
p.V342I |
Missense |
6/16 |
- |
3 |
2-47643516-G-C |
c.1024G>C |
p.V342L |
Missense |
6/16 |
- |
1 |
2-47643516-G-T |
c.1024G>T |
p.V342F |
Missense |
6/16 |
- |
1 |
2-47643517-T-A |
c.1025T>A |
p.V342D |
Missense |
6/16 |
- |
1 |
2-47643517-T-C |
c.1025T>C |
p.V342A |
Missense |
6/16 |
- |
1 |
2-47643517-T-G |
c.1025T>G |
p.V342G |
Missense |
6/16 |
- |
1 |
2-47643519-A-C |
c.1027A>C |
p.N343H |
Missense |
6/16 |
- |
1 |
2-47643519-A-G |
c.1027A>G |
p.N343D |
Missense |
6/16 |
- |
1 |
2-47643519-A-T |
c.1027A>T |
p.N343Y |
Missense |
6/16 |
- |
1 |
2-47643520-A-C |
c.1028A>C |
p.N343T |
Missense |
6/16 |
- |
1 |
2-47643520-A-G |
c.1028A>G |
p.N343S |
Missense |
6/16 |
- |
1 |
2-47643520-A-T |
c.1028A>T |
p.N343I |
Missense |
6/16 |
- |
1 |
2-47643521-C-A |
c.1029C>A |
p.N343K |
Missense |
6/16 |
- |
1 |
2-47643521-C-G |
c.1029C>G |
p.N343K |
Missense |
6/16 |
- |
1 |
2-47643522-C-A |
c.1030C>A |
p.Q344K |
Missense |
6/16 |
- |
1 |
2-47643522-C-G |
c.1030C>G |
p.Q344E |
Missense |
6/16 |
- |
1 |
2-47643523-A-C |
c.1031A>C |
p.Q344P |
Missense |
6/16 |
- |
1 |
2-47643523-A-G |
c.1031A>G |
p.Q344R |
Missense |
6/16 |
- |
1 |
2-47643523-A-T |
c.1031A>T |
p.Q344L |
Missense |
6/16 |
- |
1 |
2-47643524-G-C |
c.1032G>C |
p.Q344H |
Missense |
6/16 |
- |
1 |
2-47643524-G-T |
c.1032G>T |
p.Q344H |
Missense |
6/16 |
- |
1 |
2-47643525-T-A |
c.1033T>A |
p.W345R |
Missense |
6/16 |
- |
1 |
2-47643525-T-C |
c.1033T>C |
p.W345R |
Missense |
6/16 |
- |
1 |
2-47643525-T-G |
c.1033T>G |
p.W345G |
Missense |
6/16 |
- |
1 |
2-47643526-G-C |
c.1034G>C |
p.W345S |
Missense |
6/16 |
- |
1 |
2-47643526-G-T |
c.1034G>T |
p.W345L |
Missense |
6/16 |
- |
1 |
2-47643526-G-A |
c.1034G>A |
p.W345* |
Nonsense |
6/16 |
- |
2 |
2-47643527-G-A |
c.1035G>A |
p.W345* |
Nonsense |
6/16 |
- |
3 |
2-47643527-G-C |
c.1035G>C |
p.W345C |
Missense |
6/16 |
- |
1 |
2-47643527-G-T |
c.1035G>T |
p.W345C |
Missense |
6/16 |
- |
1 |
2-47643528-A-C |
c.1036A>C |
p.I346L |
Missense |
6/16 |
- |
1 |
2-47643528-A-G |
c.1036A>G |
p.I346V |
Missense |
6/16 |
- |
1 |
2-47643528-A-T |
c.1036A>T |
p.I346F |
Missense |
6/16 |
- |
1 |
2-47643529-T-A |
c.1037T>A |
p.I346N |
Missense |
6/16 |
- |
2 |
2-47643529-T-C |
c.1037T>C |
p.I346T |
Missense |
6/16 |
- |
1 |
2-47643529-T-G |
c.1037T>G |
p.I346S |
Missense |
6/16 |
- |
1 |
2-47643530-T-G |
c.1038T>G |
p.I346M |
Missense |
6/16 |
- |
1 |
2-47643531-A-C |
c.1039A>C |
p.K347Q |
Missense |
6/16 |
- |
1 |
2-47643531-A-G |
c.1039A>G |
p.K347E |
Missense |
6/16 |
- |
1 |
2-47643532-A-C |
c.1040A>C |
p.K347T |
Missense |
6/16 |
- |
1 |
2-47643532-A-G |
c.1040A>G |
p.K347R |
Missense |
6/16 |
- |
1 |
2-47643532-A-T |
c.1040A>T |
p.K347M |
Missense |
6/16 |
- |
1 |
2-47643533-G-C |
c.1041G>C |
p.K347N |
Missense |
6/16 |
- |
1 |
2-47643533-G-T |
c.1041G>T |
p.K347N |
Missense |
6/16 |
- |
1 |
2-47643534-C-T |
c.1042C>T |
p.Q348* |
Nonsense |
6/16 |
- |
5 |
2-47643534-C-A |
c.1042C>A |
p.Q348K |
Missense |
6/16 |
- |
1 |
2-47643534-C-G |
c.1042C>G |
p.Q348E |
Missense |
6/16 |
- |
1 |
2-47643535-A-G |
c.1043A>G |
p.Q348R |
Missense |
6/16 |
- |
2 |
2-47643535-A-C |
c.1043A>C |
p.Q348P |
Missense |
6/16 |
- |
1 |
2-47643535-A-T |
c.1043A>T |
p.Q348L |
Missense |
6/16 |
- |
1 |
2-47643536-G-C |
c.1044G>C |
p.Q348H |
Missense |
6/16 |
- |
1 |
2-47643537-C-G |
c.1045C>G |
p.P349A |
Missense |
6/16 |
- |
8 |
2-47643537-C-A |
c.1045C>A |
p.P349T |
Missense |
6/16 |
- |
2 |
2-47643537-C-T |
c.1045C>T |
p.P349S |
Missense |
6/16 |
- |
2 |
2-47643538-C-G |
c.1046C>G |
p.P349R |
Missense |
6/16 |
- |
14 |
2-47643538-C-A |
c.1046C>A |
p.P349H |
Missense |
6/16 |
- |
2 |
2-47643538-C-T |
c.1046C>T |
p.P349L |
Missense |
6/16 |
- |
8 |
2-47643540-C-A |
c.1048C>A |
p.L350I |
Missense |
6/16 |
- |
1 |
2-47643540-C-G |
c.1048C>G |
p.L350V |
Missense |
6/16 |
- |
3 |
2-47643540-C-T |
c.1048C>T |
p.L350F |
Missense |
6/16 |
- |
1 |
2-47643541-T-A |
c.1049T>A |
p.L350H |
Missense |
6/16 |
- |
1 |
2-47643541-T-C |
c.1049T>C |
p.L350P |
Missense |
6/16 |
- |
1 |
2-47643541-T-G |
c.1049T>G |
p.L350R |
Missense |
6/16 |
- |
1 |
2-47643537-CCT-C |
c.1049_1050del |
p.L350Hfs*3 |
Frameshift |
6/16 |
- |
1 |
2-47643543-A-G |
c.1051A>G |
p.M351V |
Missense |
6/16 |
- |
2 |
2-47643543-A-C |
c.1051A>C |
p.M351L |
Missense |
6/16 |
- |
1 |
2-47643543-A-T |
c.1051A>T |
p.M351L |
Missense |
6/16 |
- |
1 |
2-47643544-T-A |
c.1052T>A |
p.M351K |
Missense |
6/16 |
- |
1 |
2-47643544-T-C |
c.1052T>C |
p.M351T |
Missense |
6/16 |
- |
1 |
2-47643544-T-G |
c.1052T>G |
p.M351R |
Missense |
6/16 |
- |
1 |
2-47643545-G-A |
c.1053G>A |
p.M351I |
Missense |
6/16 |
- |
1 |
2-47643545-G-C |
c.1053G>C |
p.M351I |
Missense |
6/16 |
- |
1 |
2-47643545-G-T |
c.1053G>T |
p.M351I |
Missense |
6/16 |
- |
1 |
2-47643546-G-A |
c.1054G>A |
p.D352N |
Missense |
6/16 |
- |
2 |
2-47643546-G-C |
c.1054G>C |
p.D352H |
Missense |
6/16 |
- |
1 |
2-47643546-G-T |
c.1054G>T |
p.D352Y |
Missense |
6/16 |
- |
1 |
2-47643547-A-C |
c.1055A>C |
p.D352A |
Missense |
6/16 |
- |
1 |
2-47643547-A-G |
c.1055A>G |
p.D352G |
Missense |
6/16 |
- |
1 |
2-47643547-A-T |
c.1055A>T |
p.D352V |
Missense |
6/16 |
- |
1 |
2-47643548-T-A |
c.1056T>A |
p.D352E |
Missense |
6/16 |
- |
1 |
2-47643548-T-G |
c.1056T>G |
p.D352E |
Missense |
6/16 |
- |
1 |
2-47643549-A-C |
c.1057A>C |
p.K353Q |
Missense |
6/16 |
- |
1 |
2-47643549-A-G |
c.1057A>G |
p.K353E |
Missense |
6/16 |
- |
1 |
2-47643550-A-C |
c.1058A>C |
p.K353T |
Missense |
6/16 |
- |
1 |
2-47643550-A-G |
c.1058A>G |
p.K353R |
Missense |
6/16 |
- |
1 |
2-47643550-A-T |
c.1058A>T |
p.K353M |
Missense |
6/16 |
- |
1 |
2-47643551-G-C |
c.1059G>C |
p.K353N |
Missense |
6/16 |
- |
1 |
2-47643551-G-T |
c.1059G>T |
p.K353N |
Missense |
6/16 |
- |
1 |
2-47643551-AG-A |
c.1059del |
p.N354Tfs*3 |
Frameshift |
6/16 |
- |
1 |
2-47643552-A-C |
c.1060A>C |
p.N354H |
Missense |
6/16 |
- |
1 |
2-47643552-A-G |
c.1060A>G |
p.N354D |
Missense |
6/16 |
- |
1 |
2-47643552-A-T |
c.1060A>T |
p.N354Y |
Missense |
6/16 |
- |
1 |
2-47643553-A-C |
c.1061A>C |
p.N354T |
Missense |
6/16 |
- |
1 |
2-47643553-A-G |
c.1061A>G |
p.N354S |
Missense |
6/16 |
- |
1 |
2-47643553-A-T |
c.1061A>T |
p.N354I |
Missense |
6/16 |
- |
1 |
2-47643554-C-G |
c.1062C>G |
p.N354K |
Missense |
6/16 |
- |
2 |
2-47643554-C-A |
c.1062C>A |
p.N354K |
Missense |
6/16 |
- |
1 |
2-47643549-AAGAAC-A |
c.1062_1066del |
p.I356Gfs*31 |
Frameshift |
6/16 |
- |
1 |
2-47643555-A-G |
c.1063A>G |
p.R355G |
Missense |
6/16 |
- |
1 |
2-47643556-G-A |
c.1064G>A |
p.R355K |
Missense |
6/16 |
- |
2 |
2-47643556-G-C |
c.1064G>C |
p.R355T |
Missense |
6/16 |
- |
1 |
2-47643556-G-T |
c.1064G>T |
p.R355I |
Missense |
6/16 |
- |
1 |
2-47643557-A-C |
c.1065A>C |
p.R355S |
Missense |
6/16 |
- |
1 |
2-47643557-A-T |
c.1065A>T |
p.R355S |
Missense |
6/16 |
- |
1 |
2-47643558-A-C |
c.1066A>C |
p.I356L |
Missense |
6/16 |
- |
1 |
2-47643558-A-T |
c.1066A>T |
p.I356L |
Missense |
6/16 |
- |
1 |
2-47643558-A-G |
c.1066A>G |
p.I356V |
Missense |
6/16 |
- |
1 |
2-47643559-T-A |
c.1067T>A |
p.I356K |
Missense |
6/16 |
- |
2 |
2-47643559-T-C |
c.1067T>C |
p.I356T |
Missense |
6/16 |
- |
1 |
2-47643559-T-G |
c.1067T>G |
p.I356R |
Missense |
6/16 |
- |
2 |
2-47643560-A-G |
c.1068A>G |
p.I356M |
Missense |
6/16 |
- |
1 |
2-47643561-G-A |
c.1069G>A |
p.E357K |
Missense |
6/16 |
- |
1 |
2-47643561-G-C |
c.1069G>C |
p.E357Q |
Missense |
6/16 |
- |
1 |
2-47643562-A-C |
c.1070A>C |
p.E357A |
Missense |
6/16 |
- |
1 |
2-47643562-A-G |
c.1070A>G |
p.E357G |
Missense |
6/16 |
- |
1 |
2-47643562-A-T |
c.1070A>T |
p.E357V |
Missense |
6/16 |
- |
1 |
2-47643563-G-C |
c.1071G>C |
p.E357D |
Missense |
6/16 |
- |
1 |
2-47643563-G-T |
c.1071G>T |
p.E357D |
Missense |
6/16 |
- |
1 |
2-47643564-G-A |
c.1072G>A |
p.E358K |
Missense |
6/16 |
- |
1 |
2-47643564-G-C |
c.1072G>C |
p.E358Q |
Missense |
6/16 |
- |
1 |
2-47643565-A-C |
c.1073A>C |
p.E358A |
Missense |
6/16 |
- |
1 |
2-47643565-A-G |
c.1073A>G |
p.E358G |
Missense |
6/16 |
- |
1 |
2-47643565-A-T |
c.1073A>T |
p.E358V |
Missense |
6/16 |
- |
1 |
2-47643566-G-C |
c.1074G>C |
p.E358D |
Missense |
6/16 |
- |
1 |
2-47643566-G-T |
c.1074G>T |
p.E358D |
Missense |
6/16 |
- |
1 |
2-47643569-G-A |
c.1076+1G>A |
- |
IntronicSNV |
- |
6/15 |
5 |
2-47643569-G-T |
c.1076+1G>T |
- |
IntronicSNV |
- |
6/15 |
1 |
2-47643606-AC-A |
c.1076+40del |
- |
IntronicDeletion |
- |
6/15 |
1 |
2-47645249-G-T |
c.1076+1681G>T |
- |
IntronicSNV |
- |
6/15 |
6 |
2-47646968-C-T |
c.1076+3400C>T |
- |
IntronicSNV |
- |
6/15 |
10 |
2-47654844-G-T |
c.1077-2037G>T |
- |
IntronicSNV |
- |
6/15 |
2 |
2-47656801-G-A |
c.1077-80G>A |
- |
IntronicSNV |
- |
6/15 |
6 |
2-47656801-G-T |
c.1077-80G>T |
- |
IntronicSNV |
- |
6/15 |
6 |
2-47656871-T-C |
c.1077-10T>C |
- |
IntronicSNV |
- |
6/15 |
3 |
2-47656881-GA-G |
c.1077del |
p.R359Sfs*2 |
Frameshift |
7/16 |
- |
1 |
2-47656881-A-T |
c.1077A>T |
p.R359S |
Missense |
7/16 |
- |
6 |
2-47656881-A-C |
c.1077A>C |
p.R359S |
Missense |
7/16 |
- |
3 |
2-47656881-A-ATTTTT |
c.1079_1080insTTTTT |
p.L360Ffs*3 |
SpliceAcceptorInsertion |
7/16 |
- |
1 |
2-47656883-T-C |
c.1079T>C |
p.L360S |
Missense |
7/16 |
- |
1 |
2-47656883-T-G |
c.1079T>G |
p.L360W |
Missense |
7/16 |
- |
1 |
2-47656884-G-C |
c.1080G>C |
p.L360F |
Missense |
7/16 |
- |
1 |
2-47656884-G-T |
c.1080G>T |
p.L360F |
Missense |
7/16 |
- |
1 |
2-47656885-A-C |
c.1081A>C |
p.N361H |
Missense |
7/16 |
- |
1 |
2-47656885-A-G |
c.1081A>G |
p.N361D |
Missense |
7/16 |
- |
1 |
2-47656885-A-T |
c.1081A>T |
p.N361Y |
Missense |
7/16 |
- |
1 |
2-47656886-A-C |
c.1082A>C |
p.N361T |
Missense |
7/16 |
- |
2 |
2-47656886-A-G |
c.1082A>G |
p.N361S |
Missense |
7/16 |
- |
1 |
2-47656886-A-T |
c.1082A>T |
p.N361I |
Missense |
7/16 |
- |
1 |
2-47656884-GA-G |
c.1082del |
p.N361Ifs*2 |
Frameshift |
7/16 |
- |
1 |
2-47656887-T-A |
c.1083T>A |
p.N361K |
Missense |
7/16 |
- |
1 |
2-47656887-T-G |
c.1083T>G |
p.N361K |
Missense |
7/16 |
- |
1 |
2-47656888-T-A |
c.1084T>A |
p.L362I |
Missense |
7/16 |
- |
1 |
2-47656888-T-G |
c.1084T>G |
p.L362V |
Missense |
7/16 |
- |
1 |
2-47656889-T-C |
c.1085T>C |
p.L362S |
Missense |
7/16 |
- |
1 |
2-47656890-A-C |
c.1086A>C |
p.L362F |
Missense |
7/16 |
- |
1 |
2-47656890-A-T |
c.1086A>T |
p.L362F |
Missense |
7/16 |
- |
1 |
2-47656890-TAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTC-T |
c.1086_1144del |
p.V363Sfs*6 |
InFrameDeletion |
7/16 |
- |
1 |
2-47656891-G-A |
c.1087G>A |
p.V363M |
Missense |
7/16 |
- |
1 |
2-47656891-G-C |
c.1087G>C |
p.V363L |
Missense |
7/16 |
- |
1 |
2-47656891-G-T |
c.1087G>T |
p.V363L |
Missense |
7/16 |
- |
1 |
2-47656892-T-C |
c.1088T>C |
p.V363A |
Missense |
7/16 |
- |
1 |
2-47656892-T-G |
c.1088T>G |
p.V363G |
Missense |
7/16 |
- |
1 |
2-47656893-G-T |
c.1089G>T |
p.V363= |
Synonymous |
7/16 |
- |
1 |
2-47656894-G-C |
c.1090G>C |
p.E364Q |
Missense |
7/16 |
- |
1 |
2-47656895-A-G |
c.1091A>G |
p.E364G |
Missense |
7/16 |
- |
2 |
2-47656895-A-C |
c.1091A>C |
p.E364A |
Missense |
7/16 |
- |
1 |
2-47656895-A-T |
c.1091A>T |
p.E364V |
Missense |
7/16 |
- |
1 |
2-47656896-A-C |
c.1092A>C |
p.E364D |
Missense |
7/16 |
- |
1 |
2-47656896-A-T |
c.1092A>T |
p.E364D |
Missense |
7/16 |
- |
1 |
2-47656897-G-A |
c.1093G>A |
p.A365T |
Missense |
7/16 |
- |
2 |
2-47656897-G-C |
c.1093G>C |
p.A365P |
Missense |
7/16 |
- |
1 |
2-47656897-G-T |
c.1093G>T |
p.A365S |
Missense |
7/16 |
- |
1 |
2-47656898-C-G |
c.1094C>G |
p.A365G |
Missense |
7/16 |
- |
1 |
2-47656898-C-T |
c.1094C>T |
p.A365V |
Missense |
7/16 |
- |
1 |
2-47656900-T-C |
c.1096T>C |
p.F366L |
Missense |
7/16 |
- |
4 |
2-47656900-T-A |
c.1096T>A |
p.F366I |
Missense |
7/16 |
- |
1 |
2-47656900-T-G |
c.1096T>G |
p.F366V |
Missense |
7/16 |
- |
1 |
2-47656901-T-A |
c.1097T>A |
p.F366Y |
Missense |
7/16 |
- |
1 |
2-47656901-T-C |
c.1097T>C |
p.F366S |
Missense |
7/16 |
- |
1 |
2-47656901-T-G |
c.1097T>G |
p.F366C |
Missense |
7/16 |
- |
1 |
2-47656902-T-C |
c.1098T>C |
p.F366= |
Synonymous |
7/16 |
- |
1 |
2-47656902-T-A |
c.1098T>A |
p.F366L |
Missense |
7/16 |
- |
2 |
2-47656902-T-G |
c.1098T>G |
p.F366L |
Missense |
7/16 |
- |
2 |
2-47656903-G-A |
c.1099G>A |
p.V367I |
Missense |
7/16 |
- |
2 |
2-47656903-G-C |
c.1099G>C |
p.V367L |
Missense |
7/16 |
- |
1 |
2-47656903-G-T |
c.1099G>T |
p.V367L |
Missense |
7/16 |
- |
1 |
2-47656904-T-A |
c.1100T>A |
p.V367E |
Missense |
7/16 |
- |
1 |
2-47656904-T-C |
c.1100T>C |
p.V367A |
Missense |
7/16 |
- |
2 |
2-47656904-T-G |
c.1100T>G |
p.V367G |
Missense |
7/16 |
- |
1 |
2-47656906-G-A |
c.1102G>A |
p.E368K |
Missense |
7/16 |
- |
1 |
2-47656906-G-C |
c.1102G>C |
p.E368Q |
Missense |
7/16 |
- |
1 |
2-47656907-A-C |
c.1103A>C |
p.E368A |
Missense |
7/16 |
- |
1 |
2-47656907-A-G |
c.1103A>G |
p.E368G |
Missense |
7/16 |
- |
1 |
2-47656907-A-T |
c.1103A>T |
p.E368V |
Missense |
7/16 |
- |
1 |
2-47656908-A-C |
c.1104A>C |
p.E368D |
Missense |
7/16 |
- |
1 |
2-47656908-A-T |
c.1104A>T |
p.E368D |
Missense |
7/16 |
- |
1 |
2-47656909-G-A |
c.1105G>A |
p.D369N |
Missense |
7/16 |
- |
1 |
2-47656909-G-C |
c.1105G>C |
p.D369H |
Missense |
7/16 |
- |
1 |
2-47656909-G-T |
c.1105G>T |
p.D369Y |
Missense |
7/16 |
- |
1 |
2-47656910-A-C |
c.1106A>C |
p.D369A |
Missense |
7/16 |
- |
1 |
2-47656910-A-G |
c.1106A>G |
p.D369G |
Missense |
7/16 |
- |
1 |
2-47656910-A-T |
c.1106A>T |
p.D369V |
Missense |
7/16 |
- |
1 |
2-47656911-T-A |
c.1107T>A |
p.D369E |
Missense |
7/16 |
- |
1 |
2-47656911-T-G |
c.1107T>G |
p.D369E |
Missense |
7/16 |
- |
1 |
2-47656912-G-A |
c.1108G>A |
p.A370T |
Missense |
7/16 |
- |
3 |
2-47656912-G-C |
c.1108G>C |
p.A370P |
Missense |
7/16 |
- |
1 |
2-47656912-G-T |
c.1108G>T |
p.A370S |
Missense |
7/16 |
- |
1 |
2-47656913-C-A |
c.1109C>A |
p.A370E |
Missense |
7/16 |
- |
1 |
2-47656913-C-G |
c.1109C>G |
p.A370G |
Missense |
7/16 |
- |
1 |
2-47656913-C-T |
c.1109C>T |
p.A370V |
Missense |
7/16 |
- |
1 |
2-47656915-G-C |
c.1111G>C |
p.E371Q |
Missense |
7/16 |
- |
2 |
2-47656915-G-A |
c.1111G>A |
p.E371K |
Missense |
7/16 |
- |
2 |
2-47656915-G-T |
c.1111G>T |
p.E371* |
Nonsense |
7/16 |
- |
1 |
2-47656916-A-C |
c.1112A>C |
p.E371A |
Missense |
7/16 |
- |
1 |
2-47656916-A-G |
c.1112A>G |
p.E371G |
Missense |
7/16 |
- |
1 |
2-47656916-A-T |
c.1112A>T |
p.E371V |
Missense |
7/16 |
- |
1 |
2-47656917-A-C |
c.1113A>C |
p.E371D |
Missense |
7/16 |
- |
1 |
2-47656917-A-T |
c.1113A>T |
p.E371D |
Missense |
7/16 |
- |
1 |
2-47656918-T-A |
c.1114T>A |
p.L372M |
Missense |
7/16 |
- |
1 |
2-47656918-T-G |
c.1114T>G |
p.L372V |
Missense |
7/16 |
- |
1 |
2-47656919-T-A |
c.1115T>A |
p.L372* |
Nonsense |
7/16 |
- |
1 |
2-47656919-T-C |
c.1115T>C |
p.L372S |
Missense |
7/16 |
- |
1 |
2-47656919-T-G |
c.1115T>G |
p.L372W |
Missense |
7/16 |
- |
1 |
2-47656920-G-C |
c.1116G>C |
p.L372F |
Missense |
7/16 |
- |
1 |
2-47656920-G-T |
c.1116G>T |
p.L372F |
Missense |
7/16 |
- |
1 |
2-47656921-A-G |
c.1117A>G |
p.R373G |
Missense |
7/16 |
- |
1 |
2-47656921-A-T |
c.1117A>T |
p.R373W |
Missense |
7/16 |
- |
1 |
2-47656922-G-A |
c.1118G>A |
p.R373K |
Missense |
7/16 |
- |
1 |
2-47656922-G-C |
c.1118G>C |
p.R373T |
Missense |
7/16 |
- |
1 |
2-47656923-G-C |
c.1119G>C |
p.R373S |
Missense |
7/16 |
- |
1 |
2-47656923-G-T |
c.1119G>T |
p.R373S |
Missense |
7/16 |
- |
1 |
2-47656924-C-T |
c.1120C>T |
p.Q374* |
Nonsense |
7/16 |
- |
2 |
2-47656924-C-A |
c.1120C>A |
p.Q374K |
Missense |
7/16 |
- |
1 |
2-47656925-A-G |
c.1121A>G |
p.Q374R |
Missense |
7/16 |
- |
2 |
2-47656925-A-C |
c.1121A>C |
p.Q374P |
Missense |
7/16 |
- |
1 |
2-47656925-A-T |
c.1121A>T |
p.Q374L |
Missense |
7/16 |
- |
1 |
2-47656926-G-C |
c.1122G>C |
p.Q374H |
Missense |
7/16 |
- |
1 |
2-47656926-G-T |
c.1122G>T |
p.Q374H |
Missense |
7/16 |
- |
1 |
2-47656927-A-C |
c.1123A>C |
p.T375P |
Missense |
7/16 |
- |
1 |
2-47656927-A-G |
c.1123A>G |
p.T375A |
Missense |
7/16 |
- |
1 |
2-47656927-A-T |
c.1123A>T |
p.T375S |
Missense |
7/16 |
- |
1 |
2-47656928-C-T |
c.1124C>T |
p.T375I |
Missense |
7/16 |
- |
2 |
2-47656928-C-G |
c.1124C>G |
p.T375S |
Missense |
7/16 |
- |
2 |
2-47656928-C-A |
c.1124C>A |
p.T375N |
Missense |
7/16 |
- |
1 |
2-47656928-C-CG |
c.1124_1125insG |
p.L376Ffs*13 |
Frameshift |
7/16 |
- |
1 |
2-47656930-T-A |
c.1126T>A |
p.L376I |
Missense |
7/16 |
- |
1 |
2-47656930-T-G |
c.1126T>G |
p.L376V |
Missense |
7/16 |
- |
1 |
2-47656931-T-C |
c.1127T>C |
p.L376S |
Missense |
7/16 |
- |
1 |
2-47656928-C-CT |
c.1127dup |
p.L376Ffs*13 |
Frameshift |
7/16 |
- |
1 |
2-47656932-A-C |
c.1128A>C |
p.L376F |
Missense |
7/16 |
- |
1 |
2-47656932-A-T |
c.1128A>T |
p.L376F |
Missense |
7/16 |
- |
1 |
2-47656933-C-T |
c.1129C>T |
p.Q377* |
Nonsense |
7/16 |
- |
1 |
2-47656933-C-A |
c.1129C>A |
p.Q377K |
Missense |
7/16 |
- |
1 |
2-47656933-C-G |
c.1129C>G |
p.Q377E |
Missense |
7/16 |
- |
1 |
2-47656934-A-C |
c.1130A>C |
p.Q377P |
Missense |
7/16 |
- |
1 |
2-47656934-A-G |
c.1130A>G |
p.Q377R |
Missense |
7/16 |
- |
1 |
2-47656934-A-T |
c.1130A>T |
p.Q377L |
Missense |
7/16 |
- |
1 |
2-47656935-A-G |
c.1131A>G |
p.Q377= |
Synonymous |
7/16 |
- |
2 |
2-47656935-A-C |
c.1131A>C |
p.Q377H |
Missense |
7/16 |
- |
1 |
2-47656935-A-T |
c.1131A>T |
p.Q377H |
Missense |
7/16 |
- |
1 |
2-47656936-G-A |
c.1132G>A |
p.E378K |
Missense |
7/16 |
- |
1 |
2-47656936-G-C |
c.1132G>C |
p.E378Q |
Missense |
7/16 |
- |
1 |
2-47656937-A-C |
c.1133A>C |
p.E378A |
Missense |
7/16 |
- |
1 |
2-47656937-A-G |
c.1133A>G |
p.E378G |
Missense |
7/16 |
- |
1 |
2-47656937-A-T |
c.1133A>T |
p.E378V |
Missense |
7/16 |
- |
1 |
2-47656938-A-C |
c.1134A>C |
p.E378D |
Missense |
7/16 |
- |
1 |
2-47656938-A-T |
c.1134A>T |
p.E378D |
Missense |
7/16 |
- |
1 |
2-47656939-G-C |
c.1135G>C |
p.D379H |
Missense |
7/16 |
- |
1 |
2-47656939-G-T |
c.1135G>T |
p.D379Y |
Missense |
7/16 |
- |
1 |
2-47656939-AGATTT-A |
c.1135_1139del |
p.D379Tfs*8 |
Frameshift |
7/16 |
- |
1 |
2-47656940-A-C |
c.1136A>C |
p.D379A |
Missense |
7/16 |
- |
1 |
2-47656940-A-G |
c.1136A>G |
p.D379G |
Missense |
7/16 |
- |
1 |
2-47656940-A-T |
c.1136A>T |
p.D379V |
Missense |
7/16 |
- |
1 |
2-47656941-T-A |
c.1137T>A |
p.D379E |
Missense |
7/16 |
- |
1 |
2-47656941-T-G |
c.1137T>G |
p.D379E |
Missense |
7/16 |
- |
1 |
2-47656942-T-A |
c.1138T>A |
p.L380I |
Missense |
7/16 |
- |
1 |
2-47656942-T-G |
c.1138T>G |
p.L380V |
Missense |
7/16 |
- |
1 |
2-47656940-AT-A |
c.1139del |
p.L380Yfs*32 |
Frameshift |
7/16 |
- |
1 |
2-47656943-T-C |
c.1139T>C |
p.L380S |
Missense |
7/16 |
- |
1 |
2-47656944-A-C |
c.1140A>C |
p.L380F |
Missense |
7/16 |
- |
1 |
2-47656944-A-T |
c.1140A>T |
p.L380F |
Missense |
7/16 |
- |
1 |
2-47656944-TA-T |
c.1140del |
p.L380Ffs*32 |
Frameshift |
7/16 |
- |
1 |
2-47656945-C-A |
c.1141C>A |
p.L381I |
Missense |
7/16 |
- |
1 |
2-47656945-C-G |
c.1141C>G |
p.L381V |
Missense |
7/16 |
- |
1 |
2-47656945-C-T |
c.1141C>T |
p.L381F |
Missense |
7/16 |
- |
1 |
2-47656946-T-A |
c.1142T>A |
p.L381H |
Missense |
7/16 |
- |
1 |
2-47656946-T-C |
c.1142T>C |
p.L381P |
Missense |
7/16 |
- |
1 |
2-47656946-T-G |
c.1142T>G |
p.L381R |
Missense |
7/16 |
- |
1 |
2-47656947-T-TA |
c.1143_1144insA |
p.R382Tfs*7 |
Frameshift |
7/16 |
- |
2 |
2-47656943-TACTTCGTCGATTCCCAGATCTTAACCG-T |
c.1144_1170del |
p.R382_L390del |
InFrameDeletion |
7/16 |
- |
1 |
2-47656948-C-A |
c.1144C>A |
p.R382S |
Missense |
7/16 |
- |
1 |
2-47656948-C-G |
c.1144C>G |
p.R382G |
Missense |
7/16 |
- |
1 |
2-47656948-C-T |
c.1144C>T |
p.R382C |
Missense |
7/16 |
- |
2 |
2-47656948-CGT-TGA |
c.1144_1146delinsTGA |
p.R382* |
Nonsense |
7/16 |
- |
2 |
2-47656948-TC-T |
c.1144del |
p.R382Vfs*30 |
Frameshift |
7/16 |
- |
1 |
2-47656949-G-A |
c.1145G>A |
p.R382H |
Missense |
7/16 |
- |
4 |
2-47656949-G-C |
c.1145G>C |
p.R382P |
Missense |
7/16 |
- |
1 |
2-47656949-G-T |
c.1145G>T |
p.R382L |
Missense |
7/16 |
- |
1 |
2-47656951-C-T |
c.1147C>T |
p.R383* |
Nonsense |
7/16 |
- |
17 |
2-47656951-CG-GC |
c.1147_1148delinsGC |
p.R383A |
Missense |
7/16 |
- |
1 |
2-47656951-C-G |
c.1147C>G |
p.R383G |
Missense |
7/16 |
- |
1 |
2-47656951-C-A |
c.1147C>A |
p.R383= |
Synonymous |
7/16 |
- |
1 |
2-47656952-G-T |
c.1148G>T |
p.R383L |
Missense |
7/16 |
- |
2 |
2-47656952-G-A |
c.1148G>A |
p.R383Q |
Missense |
7/16 |
- |
1 |
2-47656952-G-C |
c.1148G>C |
p.R383P |
Missense |
7/16 |
- |
1 |
2-47656954-T-A |
c.1150T>A |
p.F384I |
Missense |
7/16 |
- |
1 |
2-47656954-T-G |
c.1150T>G |
p.F384V |
Missense |
7/16 |
- |
1 |
2-47656953-A-AT |
c.1151dup |
p.D386Rfs*3 |
Frameshift |
7/16 |
- |
1 |
2-47656955-T-A |
c.1151T>A |
p.F384Y |
Missense |
7/16 |
- |
2 |
2-47656955-T-C |
c.1151T>C |
p.F384S |
Missense |
7/16 |
- |
1 |
2-47656955-T-G |
c.1151T>G |
p.F384C |
Missense |
7/16 |
- |
1 |
2-47656957-C-A |
c.1153C>A |
p.P385T |
Missense |
7/16 |
- |
1 |
2-47656957-C-G |
c.1153C>G |
p.P385A |
Missense |
7/16 |
- |
1 |
2-47656957-C-T |
c.1153C>T |
p.P385S |
Missense |
7/16 |
- |
1 |
2-47656958-C-T |
c.1154C>T |
p.P385L |
Missense |
7/16 |
- |
2 |
2-47656958-C-A |
c.1154C>A |
p.P385Q |
Missense |
7/16 |
- |
1 |
2-47656958-C-G |
c.1154C>G |
p.P385R |
Missense |
7/16 |
- |
1 |
2-47656960-G-T |
c.1156G>T |
p.D386Y |
Missense |
7/16 |
- |
2 |
2-47656960-G-A |
c.1156G>A |
p.D386N |
Missense |
7/16 |
- |
1 |
2-47656960-G-C |
c.1156G>C |
p.D386H |
Missense |
7/16 |
- |
1 |
2-47656961-A-C |
c.1157A>C |
p.D386A |
Missense |
7/16 |
- |
1 |
2-47656961-A-G |
c.1157A>G |
p.D386G |
Missense |
7/16 |
- |
1 |
2-47656961-A-T |
c.1157A>T |
p.D386V |
Missense |
7/16 |
- |
1 |
2-47656962-T-G |
c.1158T>G |
p.D386E |
Missense |
7/16 |
- |
2 |
2-47656962-T-A |
c.1158T>A |
p.D386E |
Missense |
7/16 |
- |
1 |
2-47656963-C-A |
c.1159C>A |
p.L387I |
Missense |
7/16 |
- |
1 |
2-47656963-C-G |
c.1159C>G |
p.L387V |
Missense |
7/16 |
- |
2 |
2-47656963-C-T |
c.1159C>T |
p.L387F |
Missense |
7/16 |
- |
1 |
2-47656964-T-A |
c.1160T>A |
p.L387H |
Missense |
7/16 |
- |
1 |
2-47656964-T-C |
c.1160T>C |
p.L387P |
Missense |
7/16 |
- |
1 |
2-47656964-T-G |
c.1160T>G |
p.L387R |
Missense |
7/16 |
- |
1 |
2-47656966-A-C |
c.1162A>C |
p.N388H |
Missense |
7/16 |
- |
1 |
2-47656966-A-G |
c.1162A>G |
p.N388D |
Missense |
7/16 |
- |
1 |
2-47656966-A-T |
c.1162A>T |
p.N388Y |
Missense |
7/16 |
- |
1 |
2-47656967-A-C |
c.1163A>C |
p.N388T |
Missense |
7/16 |
- |
1 |
2-47656967-A-G |
c.1163A>G |
p.N388S |
Missense |
7/16 |
- |
1 |
2-47656967-A-T |
c.1163A>T |
p.N388I |
Missense |
7/16 |
- |
1 |
2-47656968-C-A |
c.1164C>A |
p.N388K |
Missense |
7/16 |
- |
1 |
2-47656968-C-G |
c.1164C>G |
p.N388K |
Missense |
7/16 |
- |
1 |
2-47656969-C-T |
c.1165C>T |
p.R389* |
Nonsense |
7/16 |
- |
22 |
2-47656969-CG-GC |
c.1165_1166delinsGC |
p.R389A |
Missense |
7/16 |
- |
1 |
2-47656969-C-G |
c.1165C>G |
p.R389G |
Missense |
7/16 |
- |
2 |
2-47656970-G-A |
c.1166G>A |
p.R389Q |
Missense |
7/16 |
- |
3 |
2-47656970-G-C |
c.1166G>C |
p.R389P |
Missense |
7/16 |
- |
1 |
2-47656970-G-T |
c.1166G>T |
p.R389L |
Missense |
7/16 |
- |
1 |
2-47656971-A-G |
c.1167A>G |
p.R389= |
Synonymous |
7/16 |
- |
1 |
2-47656972-C-T |
c.1168C>T |
p.L390F |
Missense |
7/16 |
- |
22 |
2-47656972-C-G |
c.1168C>G |
p.L390V |
Missense |
7/16 |
- |
2 |
2-47656972-C-A |
c.1168C>A |
p.L390I |
Missense |
7/16 |
- |
1 |
2-47656973-T-A |
c.1169T>A |
p.L390H |
Missense |
7/16 |
- |
1 |
2-47656973-T-C |
c.1169T>C |
p.L390P |
Missense |
7/16 |
- |
1 |
2-47656973-T-G |
c.1169T>G |
p.L390R |
Missense |
7/16 |
- |
1 |
2-47656975-G-A |
c.1171G>A |
p.A391T |
Missense |
7/16 |
- |
1 |
2-47656975-G-C |
c.1171G>C |
p.A391P |
Missense |
7/16 |
- |
1 |
2-47656975-G-T |
c.1171G>T |
p.A391S |
Missense |
7/16 |
- |
1 |
2-47656976-C-A |
c.1172C>A |
p.A391D |
Missense |
7/16 |
- |
1 |
2-47656976-C-G |
c.1172C>G |
p.A391G |
Missense |
7/16 |
- |
1 |
2-47656976-C-T |
c.1172C>T |
p.A391V |
Missense |
7/16 |
- |
1 |
2-47656978-A-C |
c.1174A>C |
p.K392Q |
Missense |
7/16 |
- |
1 |
2-47656979-A-C |
c.1175A>C |
p.K392T |
Missense |
7/16 |
- |
1 |
2-47656979-A-G |
c.1175A>G |
p.K392R |
Missense |
7/16 |
- |
1 |
2-47656979-A-T |
c.1175A>T |
p.K392M |
Missense |
7/16 |
- |
1 |
2-47656980-G-C |
c.1176G>C |
p.K392N |
Missense |
7/16 |
- |
1 |
2-47656980-G-T |
c.1176G>T |
p.K392N |
Missense |
7/16 |
- |
1 |
2-47656981-AA-GC |
c.1177_1178delinsGC |
p.K393A |
Missense |
7/16 |
- |
1 |
2-47656981-A-C |
c.1177A>C |
p.K393Q |
Missense |
7/16 |
- |
1 |
2-47656982-A-T |
c.1178A>T |
p.K393M |
Missense |
7/16 |
- |
4 |
2-47656982-A-C |
c.1178A>C |
p.K393T |
Missense |
7/16 |
- |
1 |
2-47656982-A-G |
c.1178A>G |
p.K393R |
Missense |
7/16 |
- |
1 |
2-47656983-G-C |
c.1179G>C |
p.K393N |
Missense |
7/16 |
- |
1 |
2-47656983-G-T |
c.1179G>T |
p.K393N |
Missense |
7/16 |
- |
1 |
2-47656984-T-A |
c.1180T>A |
p.F394I |
Missense |
7/16 |
- |
1 |
2-47656984-T-C |
c.1180T>C |
p.F394L |
Missense |
7/16 |
- |
2 |
2-47656984-T-G |
c.1180T>G |
p.F394V |
Missense |
7/16 |
- |
1 |
2-47656985-T-A |
c.1181T>A |
p.F394Y |
Missense |
7/16 |
- |
1 |
2-47656985-T-C |
c.1181T>C |
p.F394S |
Missense |
7/16 |
- |
1 |
2-47656985-T-G |
c.1181T>G |
p.F394C |
Missense |
7/16 |
- |
1 |
2-47656986-T-A |
c.1182T>A |
p.F394L |
Missense |
7/16 |
- |
2 |
2-47656986-T-G |
c.1182T>G |
p.F394L |
Missense |
7/16 |
- |
2 |
2-47656987-CA-GC |
c.1183_1184delinsGC |
p.Q395A |
Missense |
7/16 |
- |
1 |
2-47656987-C-T |
c.1183C>T |
p.Q395* |
Nonsense |
7/16 |
- |
3 |
2-47656987-C-A |
c.1183C>A |
p.Q395K |
Missense |
7/16 |
- |
2 |
2-47656987-C-G |
c.1183C>G |
p.Q395E |
Missense |
7/16 |
- |
1 |
2-47656988-A-C |
c.1184A>C |
p.Q395P |
Missense |
7/16 |
- |
1 |
2-47656988-A-G |
c.1184A>G |
p.Q395R |
Missense |
7/16 |
- |
1 |
2-47656988-A-T |
c.1184A>T |
p.Q395L |
Missense |
7/16 |
- |
1 |
2-47656989-A-C |
c.1185A>C |
p.Q395H |
Missense |
7/16 |
- |
1 |
2-47656989-A-T |
c.1185A>T |
p.Q395H |
Missense |
7/16 |
- |
1 |
2-47656990-A-G |
c.1186A>G |
p.R396G |
Missense |
7/16 |
- |
1 |
2-47656991-G-A |
c.1187G>A |
p.R396K |
Missense |
7/16 |
- |
3 |
2-47656991-G-C |
c.1187G>C |
p.R396T |
Missense |
7/16 |
- |
1 |
2-47656992-A-C |
c.1188A>C |
p.R396S |
Missense |
7/16 |
- |
1 |
2-47656992-A-T |
c.1188A>T |
p.R396S |
Missense |
7/16 |
- |
1 |
2-47656993-C-T |
c.1189C>T |
p.Q397* |
Nonsense |
7/16 |
- |
3 |
2-47656993-C-A |
c.1189C>A |
p.Q397K |
Missense |
7/16 |
- |
1 |
2-47656993-C-G |
c.1189C>G |
p.Q397E |
Missense |
7/16 |
- |
1 |
2-47656994-A-T |
c.1190A>T |
p.Q397L |
Missense |
7/16 |
- |
1 |
2-47656994-A-C |
c.1190A>C |
p.Q397P |
Missense |
7/16 |
- |
1 |
2-47656994-A-G |
c.1190A>G |
p.Q397R |
Missense |
7/16 |
- |
1 |
2-47656995-A-C |
c.1191A>C |
p.Q397H |
Missense |
7/16 |
- |
1 |
2-47656995-A-T |
c.1191A>T |
p.Q397H |
Missense |
7/16 |
- |
1 |
2-47656996-G-A |
c.1192G>A |
p.A398T |
Missense |
7/16 |
- |
1 |
2-47656996-G-C |
c.1192G>C |
p.A398P |
Missense |
7/16 |
- |
1 |
2-47656996-G-T |
c.1192G>T |
p.A398S |
Missense |
7/16 |
- |
1 |
2-47656995-A-AG |
c.1192dup |
p.A398Gfs*19 |
Frameshift |
7/16 |
- |
1 |
2-47656997-C-A |
c.1193C>A |
p.A398E |
Missense |
7/16 |
- |
1 |
2-47656997-C-G |
c.1193C>G |
p.A398G |
Missense |
7/16 |
- |
1 |
2-47656997-C-T |
c.1193C>T |
p.A398V |
Missense |
7/16 |
- |
1 |
2-47656999-G-A |
c.1195G>A |
p.A399T |
Missense |
7/16 |
- |
3 |
2-47656999-G-C |
c.1195G>C |
p.A399P |
Missense |
7/16 |
- |
1 |
2-47656999-G-T |
c.1195G>T |
p.A399S |
Missense |
7/16 |
- |
1 |
2-47656999-GC-AA |
c.1195_1196delinsAA |
p.A399K |
Missense |
7/16 |
- |
1 |
2-47657000-C-T |
c.1196C>T |
p.A399V |
Missense |
7/16 |
- |
2 |
2-47657000-C-A |
c.1196C>A |
p.A399E |
Missense |
7/16 |
- |
1 |
2-47657000-C-G |
c.1196C>G |
p.A399G |
Missense |
7/16 |
- |
1 |
2-47657002-A-C |
c.1198A>C |
p.N400H |
Missense |
7/16 |
- |
1 |
2-47657002-A-G |
c.1198A>G |
p.N400D |
Missense |
7/16 |
- |
1 |
2-47657002-A-T |
c.1198A>T |
p.N400Y |
Missense |
7/16 |
- |
1 |
2-47657003-A-C |
c.1199A>C |
p.N400T |
Missense |
7/16 |
- |
1 |
2-47657003-A-G |
c.1199A>G |
p.N400S |
Missense |
7/16 |
- |
1 |
2-47657003-A-T |
c.1199A>T |
p.N400I |
Missense |
7/16 |
- |
1 |
2-47657004-C-A |
c.1200C>A |
p.N400K |
Missense |
7/16 |
- |
1 |
2-47657004-C-G |
c.1200C>G |
p.N400K |
Missense |
7/16 |
- |
1 |
2-47657005-T-A |
c.1201T>A |
p.L401I |
Missense |
7/16 |
- |
1 |
2-47657005-T-G |
c.1201T>G |
p.L401V |
Missense |
7/16 |
- |
1 |
2-47657006-T-C |
c.1202T>C |
p.L401S |
Missense |
7/16 |
- |
1 |
2-47657006-T-A |
c.1202T>A |
p.L401* |
Nonsense |
7/16 |
- |
1 |
2-47657006-T-G |
c.1202T>G |
p.L401* |
Nonsense |
7/16 |
- |
1 |
2-47657006-T-TA |
c.1203dup |
p.Q402Tfs*15 |
Frameshift |
7/16 |
- |
5 |
2-47657007-A-C |
c.1203A>C |
p.L401F |
Missense |
7/16 |
- |
1 |
2-47657007-A-T |
c.1203A>T |
p.L401F |
Missense |
7/16 |
- |
1 |
2-47657008-C-G |
c.1204C>G |
p.Q402E |
Missense |
7/16 |
- |
2 |
2-47657008-C-T |
c.1204C>T |
p.Q402* |
Nonsense |
7/16 |
- |
5 |
2-47657008-C-A |
c.1204C>A |
p.Q402K |
Missense |
7/16 |
- |
1 |
2-47657008-AC-A |
c.1204del |
p.Q402Kfs*10 |
Frameshift |
7/16 |
- |
1 |
2-47657009-A-C |
c.1205A>C |
p.Q402P |
Missense |
7/16 |
- |
1 |
2-47657009-A-G |
c.1205A>G |
p.Q402R |
Missense |
7/16 |
- |
1 |
2-47657009-A-T |
c.1205A>T |
p.Q402L |
Missense |
7/16 |
- |
1 |
2-47657010-A-C |
c.1206A>C |
p.Q402H |
Missense |
7/16 |
- |
1 |
2-47657010-A-T |
c.1206A>T |
p.Q402H |
Missense |
7/16 |
- |
1 |
2-47657011-G-A |
c.1207G>A |
p.D403N |
Missense |
7/16 |
- |
1 |
2-47657011-G-C |
c.1207G>C |
p.D403H |
Missense |
7/16 |
- |
1 |
2-47657011-G-T |
c.1207G>T |
p.D403Y |
Missense |
7/16 |
- |
1 |
2-47657012-A-C |
c.1208A>C |
p.D403A |
Missense |
7/16 |
- |
2 |
2-47657012-A-G |
c.1208A>G |
p.D403G |
Missense |
7/16 |
- |
1 |
2-47657012-A-T |
c.1208A>T |
p.D403V |
Missense |
7/16 |
- |
1 |
2-47657013-T-A |
c.1209T>A |
p.D403E |
Missense |
7/16 |
- |
1 |
2-47657013-T-G |
c.1209T>G |
p.D403E |
Missense |
7/16 |
- |
1 |
2-47657014-T-A |
c.1210T>A |
p.C404S |
Missense |
7/16 |
- |
1 |
2-47657014-T-C |
c.1210T>C |
p.C404R |
Missense |
7/16 |
- |
1 |
2-47657014-T-G |
c.1210T>G |
p.C404G |
Missense |
7/16 |
- |
1 |
2-47657015-G-C |
c.1211G>C |
p.C404S |
Missense |
7/16 |
- |
1 |
2-47657015-G-A |
c.1211G>A |
p.C404Y |
Missense |
7/16 |
- |
1 |
2-47657015-G-T |
c.1211G>T |
p.C404F |
Missense |
7/16 |
- |
1 |
2-47657016-T-G |
c.1212T>G |
p.C404W |
Missense |
7/16 |
- |
1 |
2-47657015-GT-G |
c.1213del |
p.Y405Tfs*7 |
Frameshift |
7/16 |
- |
1 |
2-47657017-T-A |
c.1213T>A |
p.Y405N |
Missense |
7/16 |
- |
1 |
2-47657017-T-C |
c.1213T>C |
p.Y405H |
Missense |
7/16 |
- |
1 |
2-47657017-T-G |
c.1213T>G |
p.Y405D |
Missense |
7/16 |
- |
1 |
2-47657018-A-C |
c.1214A>C |
p.Y405S |
Missense |
7/16 |
- |
1 |
2-47657018-A-G |
c.1214A>G |
p.Y405C |
Missense |
7/16 |
- |
1 |
2-47657019-C-A |
c.1215C>A |
p.Y405* |
Nonsense |
7/16 |
- |
9 |
2-47657020-C-T |
c.1216C>T |
p.R406* |
Nonsense |
7/16 |
- |
21 |
2-47657020-C-G |
c.1216C>G |
p.R406G |
Missense |
7/16 |
- |
1 |
2-47657021-G-A |
c.1217G>A |
p.R406Q |
Missense |
7/16 |
- |
2 |
2-47657021-G-C |
c.1217G>C |
p.R406P |
Missense |
7/16 |
- |
1 |
2-47657021-G-T |
c.1217G>T |
p.R406L |
Missense |
7/16 |
- |
1 |
2-47657023-C-A |
c.1219C>A |
p.L407I |
Missense |
7/16 |
- |
1 |
2-47657023-C-G |
c.1219C>G |
p.L407V |
Missense |
7/16 |
- |
2 |
2-47657023-C-T |
c.1219C>T |
p.L407F |
Missense |
7/16 |
- |
1 |
2-47657024-T-A |
c.1220T>A |
p.L407H |
Missense |
7/16 |
- |
1 |
2-47657024-T-C |
c.1220T>C |
p.L407P |
Missense |
7/16 |
- |
2 |
2-47657024-T-G |
c.1220T>G |
p.L407R |
Missense |
7/16 |
- |
1 |
2-47657025-C-T |
c.1221C>T |
p.L407= |
Synonymous |
7/16 |
- |
2 |
2-47657025-C-G |
c.1221C>G |
p.L407= |
Synonymous |
7/16 |
- |
1 |
2-47657025-C-A |
c.1221C>A |
p.L407= |
Synonymous |
7/16 |
- |
1 |
2-47657025-C-CT |
c.1222dup |
p.Y408Lfs*9 |
Frameshift |
7/16 |
- |
2 |
2-47657026-T-TTC |
c.1222_1223insTC |
p.Y408Ffs*5 |
Frameshift |
7/16 |
- |
1 |
2-47657026-T-A |
c.1222T>A |
p.Y408N |
Missense |
7/16 |
- |
1 |
2-47657026-T-C |
c.1222T>C |
p.Y408H |
Missense |
7/16 |
- |
1 |
2-47657026-T-G |
c.1222T>G |
p.Y408D |
Missense |
7/16 |
- |
1 |
2-47657027-A-C |
c.1223A>C |
p.Y408S |
Missense |
7/16 |
- |
1 |
2-47657027-A-G |
c.1223A>G |
p.Y408C |
Missense |
7/16 |
- |
3 |
2-47657027-A-T |
c.1223A>T |
p.Y408F |
Missense |
7/16 |
- |
1 |
2-47657028-ATC-A |
c.1224_1225del |
p.Y408* |
Frameshift |
7/16 |
- |
1 |
2-47657029-C-CGA |
c.1225_1226insGA |
p.Q409Rfs*4 |
Frameshift |
7/16 |
- |
1 |
2-47657029-C-T |
c.1225C>T |
p.Q409* |
Nonsense |
7/16 |
- |
3 |
2-47657029-C-A |
c.1225C>A |
p.Q409K |
Missense |
7/16 |
- |
3 |
2-47657029-C-G |
c.1225C>G |
p.Q409E |
Missense |
7/16 |
- |
1 |
2-47657030-A-G |
c.1226A>G |
p.Q409R |
Missense |
7/16 |
- |
2 |
2-47657030-CAG-C |
c.1226_1227del |
p.Q409Rfs*7 |
Frameshift |
7/16 |
- |
10 |
2-47657030-A-C |
c.1226A>C |
p.Q409P |
Missense |
7/16 |
- |
1 |
2-47657030-A-T |
c.1226A>T |
p.Q409L |
Missense |
7/16 |
- |
1 |
2-47657031-G-T |
c.1227G>T |
p.Q409H |
Missense |
7/16 |
- |
2 |
2-47657031-G-C |
c.1227G>C |
p.Q409H |
Missense |
7/16 |
- |
2 |
2-47657032-G-T |
c.1228G>T |
p.G410C |
Missense |
7/16 |
- |
2 |
2-47657032-G-A |
c.1228G>A |
p.G410S |
Missense |
7/16 |
- |
1 |
2-47657032-G-C |
c.1228G>C |
p.G410R |
Missense |
7/16 |
- |
1 |
2-47657030-AG-A |
c.1229del |
p.G410Vfs*2 |
Frameshift |
7/16 |
- |
2 |
2-47657033-G-A |
c.1229G>A |
p.G410D |
Missense |
7/16 |
- |
1 |
2-47657033-G-C |
c.1229G>C |
p.G410A |
Missense |
7/16 |
- |
1 |
2-47657033-G-T |
c.1229G>T |
p.G410V |
Missense |
7/16 |
- |
1 |
2-47657035-A-C |
c.1231A>C |
p.I411L |
Missense |
7/16 |
- |
1 |
2-47657035-A-T |
c.1231A>T |
p.I411L |
Missense |
7/16 |
- |
1 |
2-47657035-A-G |
c.1231A>G |
p.I411V |
Missense |
7/16 |
- |
1 |
2-47657036-T-A |
c.1232T>A |
p.I411K |
Missense |
7/16 |
- |
1 |
2-47657036-T-C |
c.1232T>C |
p.I411T |
Missense |
7/16 |
- |
1 |
2-47657036-T-G |
c.1232T>G |
p.I411R |
Missense |
7/16 |
- |
1 |
2-47657037-A-G |
c.1233A>G |
p.I411M |
Missense |
7/16 |
- |
1 |
2-47657038-A-C |
c.1234A>C |
p.N412H |
Missense |
7/16 |
- |
1 |
2-47657038-A-G |
c.1234A>G |
p.N412D |
Missense |
7/16 |
- |
1 |
2-47657038-A-T |
c.1234A>T |
p.N412Y |
Missense |
7/16 |
- |
1 |
2-47657039-A-C |
c.1235A>C |
p.N412T |
Missense |
7/16 |
- |
1 |
2-47657039-A-G |
c.1235A>G |
p.N412S |
Missense |
7/16 |
- |
2 |
2-47657039-A-T |
c.1235A>T |
p.N412I |
Missense |
7/16 |
- |
1 |
2-47657041-C-A |
c.1237C>A |
p.Q413K |
Missense |
7/16 |
- |
1 |
2-47657041-C-G |
c.1237C>G |
p.Q413E |
Missense |
7/16 |
- |
1 |
2-47657041-C-T |
c.1237C>T |
p.Q413* |
Nonsense |
7/16 |
- |
2 |
2-47657042-A-C |
c.1238A>C |
p.Q413P |
Missense |
7/16 |
- |
1 |
2-47657042-A-G |
c.1238A>G |
p.Q413R |
Missense |
7/16 |
- |
1 |
2-47657042-A-T |
c.1238A>T |
p.Q413L |
Missense |
7/16 |
- |
1 |
2-47657043-A-C |
c.1239A>C |
p.Q413H |
Missense |
7/16 |
- |
1 |
2-47657043-A-T |
c.1239A>T |
p.Q413H |
Missense |
7/16 |
- |
1 |
2-47657044-C-A |
c.1240C>A |
p.L414I |
Missense |
7/16 |
- |
1 |
2-47657044-C-G |
c.1240C>G |
p.L414V |
Missense |
7/16 |
- |
1 |
2-47657045-T-A |
c.1241T>A |
p.L414Q |
Missense |
7/16 |
- |
1 |
2-47657045-T-C |
c.1241T>C |
p.L414P |
Missense |
7/16 |
- |
1 |
2-47657045-T-G |
c.1241T>G |
p.L414R |
Missense |
7/16 |
- |
1 |
2-47657047-C-A |
c.1243C>A |
p.P415T |
Missense |
7/16 |
- |
1 |
2-47657047-C-G |
c.1243C>G |
p.P415A |
Missense |
7/16 |
- |
1 |
2-47657047-C-T |
c.1243C>T |
p.P415S |
Missense |
7/16 |
- |
2 |
2-47657048-C-G |
c.1244C>G |
p.P415R |
Missense |
7/16 |
- |
2 |
2-47657048-C-A |
c.1244C>A |
p.P415H |
Missense |
7/16 |
- |
1 |
2-47657048-C-T |
c.1244C>T |
p.P415L |
Missense |
7/16 |
- |
1 |
2-47657050-A-C |
c.1246A>C |
p.N416H |
Missense |
7/16 |
- |
1 |
2-47657050-A-G |
c.1246A>G |
p.N416D |
Missense |
7/16 |
- |
1 |
2-47657050-A-T |
c.1246A>T |
p.N416Y |
Missense |
7/16 |
- |
1 |
2-47657051-A-C |
c.1247A>C |
p.N416T |
Missense |
7/16 |
- |
1 |
2-47657051-A-G |
c.1247A>G |
p.N416S |
Missense |
7/16 |
- |
1 |
2-47657051-A-T |
c.1247A>T |
p.N416I |
Missense |
7/16 |
- |
1 |
2-47657052-T-A |
c.1248T>A |
p.N416K |
Missense |
7/16 |
- |
1 |
2-47657052-T-G |
c.1248T>G |
p.N416K |
Missense |
7/16 |
- |
1 |
2-47657053-TG-T |
c.1249del |
p.V417Lfs*21 |
Frameshift |
7/16 |
- |
3 |
2-47657050-AATGTT-A |
c.1249_1253del |
p.V417Tfs*7 |
Frameshift |
7/16 |
- |
1 |
2-47657053-G-A |
c.1249G>A |
p.V417I |
Missense |
7/16 |
- |
1 |
2-47657053-G-C |
c.1249G>C |
p.V417L |
Missense |
7/16 |
- |
1 |
2-47657053-G-T |
c.1249G>T |
p.V417F |
Missense |
7/16 |
- |
1 |
2-47657054-T-C |
c.1250T>C |
p.V417A |
Missense |
7/16 |
- |
2 |
2-47657054-T-G |
c.1250T>G |
p.V417G |
Missense |
7/16 |
- |
1 |
2-47657053-G-GT |
c.1251dup |
p.I418Yfs*8 |
Frameshift |
7/16 |
- |
1 |
2-47657056-A-C |
c.1252A>C |
p.I418L |
Missense |
7/16 |
- |
2 |
2-47657056-A-T |
c.1252A>T |
p.I418L |
Missense |
7/16 |
- |
1 |
2-47657056-A-G |
c.1252A>G |
p.I418V |
Missense |
7/16 |
- |
1 |
2-47657057-T-C |
c.1253T>C |
p.I418T |
Missense |
7/16 |
- |
2 |
2-47657057-T-A |
c.1253T>A |
p.I418K |
Missense |
7/16 |
- |
1 |
2-47657057-T-G |
c.1253T>G |
p.I418R |
Missense |
7/16 |
- |
1 |
2-47657059-C-A |
c.1255C>A |
p.Q419K |
Missense |
7/16 |
- |
10 |
2-47657059-C-G |
c.1255C>G |
p.Q419E |
Missense |
7/16 |
- |
2 |
2-47657059-C-T |
c.1255C>T |
p.Q419* |
Nonsense |
7/16 |
- |
6 |
2-47657060-A-C |
c.1256A>C |
p.Q419P |
Missense |
7/16 |
- |
1 |
2-47657060-A-G |
c.1256A>G |
p.Q419R |
Missense |
7/16 |
- |
1 |
2-47657060-A-T |
c.1256A>T |
p.Q419L |
Missense |
7/16 |
- |
1 |
2-47657057-TACAGGCTCTGGAAAAACATGAAGGTA-T |
c.1257_1276+6del |
- |
SpliceDonorDeletion |
7/16 |
7/15 |
1 |
2-47657061-G-C |
c.1257G>C |
p.Q419H |
Missense |
7/16 |
- |
1 |
2-47657061-G-T |
c.1257G>T |
p.Q419H |
Missense |
7/16 |
- |
1 |
2-47657062-G-A |
c.1258G>A |
p.A420T |
Missense |
7/16 |
- |
1 |
2-47657062-G-C |
c.1258G>C |
p.A420P |
Missense |
7/16 |
- |
1 |
2-47657062-G-T |
c.1258G>T |
p.A420S |
Missense |
7/16 |
- |
1 |
2-47657063-C-A |
c.1259C>A |
p.A420D |
Missense |
7/16 |
- |
1 |
2-47657063-C-G |
c.1259C>G |
p.A420G |
Missense |
7/16 |
- |
1 |
2-47657063-C-T |
c.1259C>T |
p.A420V |
Missense |
7/16 |
- |
1 |
2-47657064-CTCT-C |
c.1260_1262del |
p.L421del |
InFrameDeletion |
7/16 |
- |
1 |
2-47657065-C-G |
c.1261C>G |
p.L421V |
Missense |
7/16 |
- |
2 |
2-47657065-C-A |
c.1261C>A |
p.L421M |
Missense |
7/16 |
- |
2 |
2-47657065-CT-TC |
c.1261_1262delinsTC |
p.L421S |
Missense |
7/16 |
- |
1 |
2-47657065-C-T |
c.1261C>T |
p.L421= |
Synonymous |
7/16 |
- |
1 |
2-47657066-T-C |
c.1262T>C |
p.L421P |
Missense |
7/16 |
- |
1 |
2-47657066-T-G |
c.1262T>G |
p.L421R |
Missense |
7/16 |
- |
1 |
2-47657068-G-A |
c.1264G>A |
p.E422K |
Missense |
7/16 |
- |
1 |
2-47657068-G-C |
c.1264G>C |
p.E422Q |
Missense |
7/16 |
- |
1 |
2-47657068-G-T |
c.1264G>T |
p.E422* |
Nonsense |
7/16 |
- |
1 |
2-47657069-A-C |
c.1265A>C |
p.E422A |
Missense |
7/16 |
- |
1 |
2-47657069-A-G |
c.1265A>G |
p.E422G |
Missense |
7/16 |
- |
1 |
2-47657069-A-T |
c.1265A>T |
p.E422V |
Missense |
7/16 |
- |
1 |
2-47657070-A-C |
c.1266A>C |
p.E422D |
Missense |
7/16 |
- |
1 |
2-47657070-A- |