16-29824381-A-C |
c.6A>C |
p.A2= |
Synonymous |
2/4 |
- |
1 |
16-29824381-A-G |
c.6A>G |
p.A2= |
Synonymous |
2/4 |
- |
1 |
16-29824381-A-T |
c.6A>T |
p.A2= |
Synonymous |
2/4 |
- |
1 |
16-29824383-C-T |
c.8C>T |
p.A3V |
Missense |
2/4 |
- |
1 |
16-29824384-C-A |
c.9C>A |
p.A3= |
Synonymous |
2/4 |
- |
2 |
16-29824384-C-G |
c.9C>G |
p.A3= |
Synonymous |
2/4 |
- |
2 |
16-29824384-C-T |
c.9C>T |
p.A3= |
Synonymous |
2/4 |
- |
2 |
16-29824385-A-G |
c.10A>G |
p.S4G |
Missense |
2/4 |
- |
1 |
16-29824388-AG-CA |
c.13_14delinsCA |
p.S5H |
Missense |
2/4 |
- |
1 |
16-29824389-G-C |
c.14G>C |
p.S5T |
Missense |
2/4 |
- |
1 |
16-29824390-C-A |
c.15C>A |
p.S5R |
Missense |
2/4 |
- |
1 |
16-29824390-GC-G |
c.15del |
p.S6Lfs*6 |
Frameshift |
2/4 |
- |
1 |
16-29824394-G-C |
c.19G>C |
p.E7Q |
Missense |
2/4 |
- |
1 |
16-29824394-G-T |
c.19G>T |
p.E7* |
Nonsense |
2/4 |
- |
3 |
16-29824399-C-A |
c.24C>A |
p.I8= |
Synonymous |
2/4 |
- |
1 |
16-29824399-C-T |
c.24C>T |
p.I8= |
Synonymous |
2/4 |
- |
1 |
16-29824400-TC-GG |
c.25_26delinsGG |
p.S9G |
Missense |
2/4 |
- |
1 |
16-29824401-C-T |
c.26C>T |
p.S9F |
Missense |
2/4 |
- |
1 |
16-29824403-G-A |
c.28G>A |
p.E10K |
Missense |
2/4 |
- |
1 |
16-29824403-GA-TC |
c.28_29inv |
p.E10S |
Missense |
2/4 |
- |
1 |
16-29824403-G-C |
c.28G>C |
p.E10Q |
Missense |
2/4 |
- |
2 |
16-29824403-G-T |
c.28G>T |
p.E10* |
Nonsense |
2/4 |
- |
2 |
16-29824404-A-C |
c.29A>C |
p.E10A |
Missense |
2/4 |
- |
3 |
16-29824405-G-A |
c.30G>A |
p.E10= |
Synonymous |
2/4 |
- |
1 |
16-29824405-G-C |
c.30G>C |
p.E10D |
Missense |
2/4 |
- |
1 |
16-29824405-G-T |
c.30G>T |
p.E10D |
Missense |
2/4 |
- |
2 |
16-29824406-A-C |
c.31A>C |
p.M11L |
Missense |
2/4 |
- |
2 |
16-29824406-A-T |
c.31A>T |
p.M11L |
Missense |
2/4 |
- |
2 |
16-29824409-AA-GC |
c.34_35delinsGC |
p.K12A |
Missense |
2/4 |
- |
2 |
16-29824409-AAG-TAT |
c.34_36delinsTAT |
p.K12Y |
Missense |
2/4 |
- |
2 |
16-29824409-AAG-TTT |
c.34_36delinsTTT |
p.K12F |
Missense |
2/4 |
- |
1 |
16-29824409-A-G |
c.34A>G |
p.K12E |
Missense |
2/4 |
- |
1 |
16-29824410-A-G |
c.35A>G |
p.K12R |
Missense |
2/4 |
- |
3 |
16-29824411-G-A |
c.36G>A |
p.K12= |
Synonymous |
2/4 |
- |
1 |
16-29824411-G-C |
c.36G>C |
p.K12N |
Missense |
2/4 |
- |
1 |
16-29824411-G-T |
c.36G>T |
p.K12N |
Missense |
2/4 |
- |
1 |
16-29824412-G-A |
c.37G>A |
p.G13R |
Missense |
2/4 |
- |
2 |
16-29824412-G-C |
c.37G>C |
p.G13R |
Missense |
2/4 |
- |
2 |
16-29824412-GGG-AGC |
c.37_39delinsAGC |
p.G13S |
Missense |
2/4 |
- |
1 |
16-29824413-G-C |
c.38G>C |
p.G13A |
Missense |
2/4 |
- |
1 |
16-29824413-GG-AC |
c.38_39delinsAC |
p.G13D |
Missense |
2/4 |
- |
3 |
16-29824413-G-T |
c.38G>T |
p.G13V |
Missense |
2/4 |
- |
2 |
16-29824415-G-A |
c.40G>A |
p.V14I |
Missense |
2/4 |
- |
2 |
16-29824415-G-C |
c.40G>C |
p.V14L |
Missense |
2/4 |
- |
1 |
16-29824418-GAG-CAT |
c.43_45delinsCAT |
p.E15H |
Missense |
2/4 |
- |
1 |
16-29824419-A-C |
c.44A>C |
p.E15A |
Missense |
2/4 |
- |
3 |
16-29824421-G-A |
c.46G>A |
p.E16K |
Missense |
2/4 |
- |
1 |
16-29824421-GA-CC |
c.46_47delinsCC |
p.E16P |
Missense |
2/4 |
- |
1 |
16-29824421-GAG-TGT |
c.46_48delinsTGT |
p.E16C |
Missense |
2/4 |
- |
1 |
16-29824421-G-T |
c.46G>T |
p.E16* |
Nonsense |
2/4 |
- |
2 |
16-29824422-A-C |
c.47A>C |
p.E16A |
Missense |
2/4 |
- |
1 |
16-29824423-G-C |
c.48G>C |
p.E16D |
Missense |
2/4 |
- |
1 |
16-29824423-G-T |
c.48G>T |
p.E16D |
Missense |
2/4 |
- |
1 |
16-29824424-A-G |
c.49A>G |
p.S17G |
Missense |
2/4 |
- |
1 |
16-29824424-AG-CA |
c.49_50delinsCA |
p.S17H |
Missense |
2/4 |
- |
1 |
16-29824424-AG-CT |
c.49_50inv |
p.S17L |
Missense |
2/4 |
- |
1 |
16-29824424-AG-GA |
c.49_50delinsGA |
p.S17D |
Missense |
2/4 |
- |
3 |
16-29824424-AG-GC |
c.49_50delinsGC |
p.S17A |
Missense |
2/4 |
- |
12 |
16-29824424-AGT-GAG |
c.49_51delinsGAG |
p.S17E |
Missense |
2/4 |
- |
4 |
16-29824424-AG-TT |
c.49_50delinsTT |
p.S17F |
Missense |
2/4 |
- |
3 |
16-29824424-A-T |
c.49A>T |
p.S17C |
Missense |
2/4 |
- |
3 |
16-29824425-AGTCCCAAGGTTCCAGGCG-A |
c.50_67del |
p.S17_E23delinsK |
MultiAAMissense |
2/4 |
- |
1 |
16-29824425-G-A |
c.50G>A |
p.S17N |
Missense |
2/4 |
- |
21 |
16-29824425-G-T |
c.50G>T |
p.S17I |
Missense |
2/4 |
- |
1 |
16-29824425-GT-AG |
c.50_51delinsAG |
p.S17K |
Missense |
2/4 |
- |
1 |
16-29824427-C-A |
c.52C>A |
p.P18T |
Missense |
2/4 |
- |
1 |
16-29824427-C-T |
c.52C>T |
p.P18S |
Missense |
2/4 |
- |
1 |
16-29824428-C-G |
c.53C>G |
p.P18R |
Missense |
2/4 |
- |
1 |
16-29824428-C-T |
c.53C>T |
p.P18L |
Missense |
2/4 |
- |
1 |
16-29824429-C-A |
c.54C>A |
p.P18= |
Synonymous |
2/4 |
- |
1 |
16-29824429-C-G |
c.54C>G |
p.P18= |
Synonymous |
2/4 |
- |
1 |
16-29824429-C-T |
c.54C>T |
p.P18= |
Synonymous |
2/4 |
- |
1 |
16-29824430-AA-GC |
c.55_56delinsGC |
p.K19A |
Missense |
2/4 |
- |
7 |
16-29824430-AAG-TAT |
c.55_57delinsTAT |
p.K19Y |
Missense |
2/4 |
- |
1 |
16-29824431-A-C |
c.56A>C |
p.K19T |
Missense |
2/4 |
- |
1 |
16-29824431-A-G |
c.56A>G |
p.K19R |
Missense |
2/4 |
- |
1 |
16-29824431-A-T |
c.56A>T |
p.K19M |
Missense |
2/4 |
- |
1 |
16-29824436-C-A |
c.61C>A |
p.P21T |
Missense |
2/4 |
- |
1 |
16-29824436-CC-AA |
c.61_62delinsAA |
p.P21K |
Missense |
2/4 |
- |
1 |
16-29824436-CC-AT |
c.61_62delinsAT |
p.P21I |
Missense |
2/4 |
- |
1 |
16-29824436-CCA-TGT |
c.61_63delinsTGT |
p.P21C |
Missense |
2/4 |
- |
1 |
16-29824436-CC-GT |
c.61_62delinsGT |
p.P21V |
Missense |
2/4 |
- |
2 |
16-29824436-C-G |
c.61C>G |
p.P21A |
Missense |
2/4 |
- |
2 |
16-29824436-C-T |
c.61C>T |
p.P21S |
Missense |
2/4 |
- |
5 |
16-29824437-C-G |
c.62C>G |
p.P21R |
Missense |
2/4 |
- |
1 |
16-29824438-A-C |
c.63A>C |
p.P21= |
Synonymous |
2/4 |
- |
2 |
16-29824438-A-G |
c.63A>G |
p.P21= |
Synonymous |
2/4 |
- |
2 |
16-29824438-A-T |
c.63A>T |
p.P21= |
Synonymous |
2/4 |
- |
2 |
16-29824440-G-C |
c.65G>C |
p.G22A |
Missense |
2/4 |
- |
1 |
16-29824441-C-A |
c.66C>A |
p.G22= |
Synonymous |
2/4 |
- |
1 |
16-29824441-C-G |
c.66C>G |
p.G22= |
Synonymous |
2/4 |
- |
1 |
16-29824441-C-T |
c.66C>T |
p.G22= |
Synonymous |
2/4 |
- |
1 |
16-29824442-G-A |
c.67G>A |
p.E23K |
Missense |
2/4 |
- |
14 |
16-29824442-GA-CT |
c.67_68delinsCT |
p.E23L |
Missense |
2/4 |
- |
1 |
16-29824443-A-C |
c.68A>C |
p.E23A |
Missense |
2/4 |
- |
1 |
16-29824446-G-A |
c.71G>A |
p.G24E |
Missense |
2/4 |
- |
1 |
16-29824446-GG-AC |
c.71_72delinsAC |
p.G24D |
Missense |
2/4 |
- |
1 |
16-29824446-G-T |
c.71G>T |
p.G24V |
Missense |
2/4 |
- |
1 |
16-29824448-CC-AT |
c.73_74delinsAT |
p.P25I |
Missense |
2/4 |
- |
1 |
16-29824448-C-G |
c.73C>G |
p.P25A |
Missense |
2/4 |
- |
1 |
16-29824449-C-T |
c.74C>T |
p.P25L |
Missense |
2/4 |
- |
2 |
16-29824453-C-A |
c.78C>A |
p.G26= |
Synonymous |
2/4 |
- |
1 |
16-29824455-A-G |
c.80A>G |
p.H27R |
Missense |
2/4 |
- |
1 |
16-29824457-T-C |
c.82T>C |
p.S28P |
Missense |
2/4 |
- |
1 |
16-29824457-TC-AA |
c.82_83delinsAA |
p.S28N |
Missense |
2/4 |
- |
6 |
16-29824457-TC-GA |
c.82_83inv |
p.S28D |
Missense |
2/4 |
- |
3 |
16-29824457-TC-GG |
c.82_83delinsGG |
p.S28G |
Missense |
2/4 |
- |
1 |
16-29824457-TCT-GAG |
c.82_84delinsGAG |
p.S28E |
Missense |
2/4 |
- |
2 |
16-29824457-T-G |
c.82T>G |
p.S28A |
Missense |
2/4 |
- |
9 |
16-29824460-G-A |
c.85G>A |
p.E29K |
Missense |
2/4 |
- |
2 |
16-29824461-A-C |
c.86A>C |
p.E29A |
Missense |
2/4 |
- |
1 |
16-29824462-A-G |
c.87A>G |
p.E29= |
Synonymous |
2/4 |
- |
1 |
16-29824463-G-A |
c.88G>A |
p.A30T |
Missense |
2/4 |
- |
1 |
16-29824463-G-C |
c.88G>C |
p.A30P |
Missense |
2/4 |
- |
26 |
16-29824463-GC-TT |
c.88_89delinsTT |
p.A30F |
Missense |
2/4 |
- |
1 |
16-29824464-C-A |
c.89C>A |
p.A30D |
Missense |
2/4 |
- |
2 |
16-29824464-CT-AG |
c.89_90inv |
p.A30E |
Missense |
2/4 |
- |
1 |
16-29824467-A-C |
c.92A>C |
p.E31A |
Missense |
2/4 |
- |
1 |
16-29824469-ACT-GAG |
c.94_96delinsGAG |
p.T32E |
Missense |
2/4 |
- |
1 |
16-29824475-CC-GG |
c.100_101inv |
p.P34G |
Missense |
2/4 |
- |
1 |
16-29824475-CCT-AAG |
c.100_102delinsAAG |
p.P34K |
Missense |
2/4 |
- |
1 |
16-29824475-CC-TG |
c.100_101delinsTG |
p.P34C |
Missense |
2/4 |
- |
2 |
16-29824476-C-A |
c.101C>A |
p.P34H |
Missense |
2/4 |
- |
1 |
16-29824476-C-G |
c.101C>G |
p.P34R |
Missense |
2/4 |
- |
1 |
16-29824478-CCC-TAA |
c.103_105delinsTAA |
p.P35* |
Nonsense |
2/4 |
- |
1 |
16-29824478-CCC-TGG |
c.103_105delinsTGG |
p.P35W |
Missense |
2/4 |
- |
1 |
16-29824478-CC-GG |
c.103_104inv |
p.P35G |
Missense |
2/4 |
- |
19 |
16-29824478-C-T |
c.103C>T |
p.P35S |
Missense |
2/4 |
- |
2 |
16-29824477-TC-T |
c.106del |
p.Q36Rfs*3 |
Frameshift |
2/4 |
- |
1 |
16-29824482-A-G |
c.107A>G |
p.Q36R |
Missense |
2/4 |
- |
1 |
16-29824483-G-A |
c.108G>A |
p.Q36= |
Synonymous |
2/4 |
- |
1 |
16-29824483-G-T |
c.108G>T |
p.Q36H |
Missense |
2/4 |
- |
1 |
16-29824484-GT-TG |
c.109_110delinsTG |
p.V37C |
Missense |
2/4 |
- |
1 |
16-29824487-CTA-GAC |
c.112_114delinsGAC |
p.L38D |
Missense |
2/4 |
- |
2 |
16-29824487-CT-GA |
c.112_113delinsGA |
p.L38E |
Missense |
2/4 |
- |
1 |
16-29824490-G-A |
c.115G>A |
p.A39T |
Missense |
2/4 |
- |
1 |
16-29824490-GC-AT |
c.115_116delinsAT |
p.A39I |
Missense |
2/4 |
- |
1 |
16-29824491-C-T |
c.116C>T |
p.A39V |
Missense |
2/4 |
- |
1 |
16-29824492-A-C |
c.117A>C |
p.A39= |
Synonymous |
2/4 |
- |
2 |
16-29824492-A-G |
c.117A>G |
p.A39= |
Synonymous |
2/4 |
- |
2 |
16-29824492-A-T |
c.117A>T |
p.A39= |
Synonymous |
2/4 |
- |
2 |
16-29824492-CA-C |
c.117del |
p.V41Yfs*49 |
Frameshift |
2/4 |
- |
1 |
16-29824494-G-A |
c.119G>A |
p.G40E |
Missense |
2/4 |
- |
2 |
16-29824497-T-C |
c.122T>C |
p.V41A |
Missense |
2/4 |
- |
1 |
16-29824500-C-T |
c.125C>T |
p.P42L |
Missense |
2/4 |
- |
2 |
16-29824502-G-A |
c.127G>A |
p.D43N |
Missense |
2/4 |
- |
1 |
16-29824502-GAC-TAA |
c.127_129delinsTAA |
p.D43* |
Nonsense |
2/4 |
- |
1 |
16-29824503-A-G |
c.128A>G |
p.D43G |
Missense |
2/4 |
- |
1 |
16-29824505-C-G |
c.130C>G |
p.Q44E |
Missense |
2/4 |
- |
1 |
16-29824505-C-T |
c.130C>T |
p.Q44* |
Nonsense |
2/4 |
- |
1 |
16-29824503-ACCAG-A |
c.133_136del |
p.P45Rfs*44 |
Frameshift |
2/4 |
- |
2 |
16-29824508-C-T |
c.133C>T |
p.P45S |
Missense |
2/4 |
- |
1 |
16-29824509-C-G |
c.134C>G |
p.P45R |
Missense |
2/4 |
- |
1 |
16-29824509-C-T |
c.134C>T |
p.P45L |
Missense |
2/4 |
- |
3 |
16-29824511-G-A |
c.136G>A |
p.E46K |
Missense |
2/4 |
- |
17 |
16-29824513-G-A |
c.138G>A |
p.E46= |
Synonymous |
2/4 |
- |
1 |
16-29824514-GC-TG |
c.139_140delinsTG |
p.A47C |
Missense |
2/4 |
- |
1 |
16-29824514-GC-TT |
c.139_140delinsTT |
p.A47F |
Missense |
2/4 |
- |
3 |
16-29824515-C-A |
c.140C>A |
p.A47D |
Missense |
2/4 |
- |
2 |
16-29824516-C-A |
c.141C>A |
p.A47= |
Synonymous |
2/4 |
- |
1 |
16-29824516-C-G |
c.141C>G |
p.A47= |
Synonymous |
2/4 |
- |
1 |
16-29824516-C-T |
c.141C>T |
p.A47= |
Synonymous |
2/4 |
- |
1 |
16-29824517-CC-GT |
c.142_143delinsGT |
p.P48V |
Missense |
2/4 |
- |
1 |
16-29824517-C-T |
c.142C>T |
p.P48S |
Missense |
2/4 |
- |
2 |
16-29824518-C-G |
c.143C>G |
p.P48R |
Missense |
2/4 |
- |
1 |
16-29824518-C-T |
c.143C>T |
p.P48L |
Missense |
2/4 |
- |
2 |
16-29824519-G-A |
c.144G>A |
p.P48= |
Synonymous |
2/4 |
- |
3 |
16-29824519-G-C |
c.144G>C |
p.P48= |
Synonymous |
2/4 |
- |
3 |
16-29824519-G-T |
c.144G>T |
p.P48= |
Synonymous |
2/4 |
- |
3 |
16-29824520-C-T |
c.145C>T |
p.Q49* |
Nonsense |
2/4 |
- |
1 |
16-29824522-G-C |
c.147G>C |
p.Q49H |
Missense |
2/4 |
- |
1 |
16-29824522-G-T |
c.147G>T |
p.Q49H |
Missense |
2/4 |
- |
1 |
16-29824523-C-A |
c.148C>A |
p.P50T |
Missense |
2/4 |
- |
2 |
16-29824523-CC-AT |
c.148_149delinsAT |
p.P50I |
Missense |
2/4 |
- |
2 |
16-29824523-CC-GG |
c.148_149inv |
p.P50G |
Missense |
2/4 |
- |
2 |
16-29824523-C-G |
c.148C>G |
p.P50A |
Missense |
2/4 |
- |
3 |
16-29824527-G-A |
c.152G>A |
p.G51D |
Missense |
2/4 |
- |
2 |
16-29824527-G-C |
c.152G>C |
p.G51A |
Missense |
2/4 |
- |
1 |
16-29824529-C-T |
c.154C>T |
p.P52S |
Missense |
2/4 |
- |
1 |
16-29824532-AAC-CAA |
c.157_159delinsCAA |
p.N53Q |
Missense |
2/4 |
- |
1 |
16-29824532-A-C |
c.157A>C |
p.N53H |
Missense |
2/4 |
- |
2 |
16-29824535-ACC-GAG |
c.160_162delinsGAG |
p.T54E |
Missense |
2/4 |
- |
1 |
16-29824535-AC-TG |
c.160_161delinsTG |
p.T54C |
Missense |
2/4 |
- |
1 |
16-29824535-AC-TT |
c.160_161delinsTT |
p.T54F |
Missense |
2/4 |
- |
1 |
16-29824535-A-G |
c.160A>G |
p.T54A |
Missense |
2/4 |
- |
3 |
16-29824538-A-G |
c.163A>G |
p.T55A |
Missense |
2/4 |
- |
2 |
16-29824539-CT-GG |
c.164_165delinsGG |
p.T55R |
Missense |
2/4 |
- |
2 |
16-29824540-T-A |
c.165T>A |
p.T55= |
Synonymous |
2/4 |
- |
1 |
16-29824540-T-C |
c.165T>C |
p.T55= |
Synonymous |
2/4 |
- |
1 |
16-29824540-T-G |
c.165T>G |
p.T55= |
Synonymous |
2/4 |
- |
1 |
16-29824541-GCG-TGT |
c.166_168delinsTGT |
p.A56C |
Missense |
2/4 |
- |
1 |
16-29824542-C-A |
c.167C>A |
p.A56E |
Missense |
2/4 |
- |
4 |
16-29824542-C-G |
c.167C>G |
p.A56G |
Missense |
2/4 |
- |
1 |
16-29824542-C-T |
c.167C>T |
p.A56V |
Missense |
2/4 |
- |
1 |
16-29824543-G-A |
c.168G>A |
p.A56= |
Synonymous |
2/4 |
- |
1 |
16-29824543-G-C |
c.168G>C |
p.A56= |
Synonymous |
2/4 |
- |
1 |
16-29824543-G-T |
c.168G>T |
p.A56= |
Synonymous |
2/4 |
- |
1 |
16-29824544-G-A |
c.169G>A |
p.A57T |
Missense |
2/4 |
- |
3 |
16-29824544-GC-TG |
c.169_170delinsTG |
p.A57C |
Missense |
2/4 |
- |
1 |
16-29824546-C-A |
c.171C>A |
p.A57= |
Synonymous |
2/4 |
- |
2 |
16-29824546-C-G |
c.171C>G |
p.A57= |
Synonymous |
2/4 |
- |
2 |
16-29824546-C-T |
c.171C>T |
p.A57= |
Synonymous |
2/4 |
- |
2 |
16-29824547-C-A |
c.172C>A |
p.P58T |
Missense |
2/4 |
- |
1 |
16-29824547-C-T |
c.172C>T |
p.P58S |
Missense |
2/4 |
- |
1 |
16-29824548-C-G |
c.173C>G |
p.P58R |
Missense |
2/4 |
- |
1 |
16-29824550-G-T |
c.175G>T |
p.V59L |
Missense |
2/4 |
- |
1 |
16-29824553-GA-AT |
c.178_179delinsAT |
p.D60I |
Missense |
2/4 |
- |
1 |
16-29824553-GAC-AAG |
c.178_180delinsAAG |
p.D60K |
Missense |
2/4 |
- |
3 |
16-29824553-GA-TG |
c.178_179delinsTG |
p.D60C |
Missense |
2/4 |
- |
1 |
16-29824556-TC-GA |
c.181_182inv |
p.S61E |
Missense |
2/4 |
- |
2 |
16-29824556-T-G |
c.181T>G |
p.S61A |
Missense |
2/4 |
- |
2 |
16-29824557-C-T |
c.182C>T |
p.S61L |
Missense |
2/4 |
- |
1 |
16-29824558-A-C |
c.183A>C |
p.S61= |
Synonymous |
2/4 |
- |
1 |
16-29824558-A-G |
c.183A>G |
p.S61= |
Synonymous |
2/4 |
- |
1 |
16-29824558-A-T |
c.183A>T |
p.S61= |
Synonymous |
2/4 |
- |
1 |
16-29824562-CCC-GAG |
c.187_189delinsGAG |
p.P63E |
Missense |
2/4 |
- |
1 |
16-29824562-C-G |
c.187C>G |
p.P63A |
Missense |
2/4 |
- |
3 |
16-29824561-GCC-G |
c.188_189del |
p.P63Qfs*70 |
Frameshift |
2/4 |
- |
2 |
16-29824565-AA-GG |
c.190_191delinsGG |
p.K64G |
Missense |
2/4 |
- |
1 |
16-29824565-AAG-GAC |
c.190_192delinsGAC |
p.K64D |
Missense |
2/4 |
- |
1 |
16-29824568-GC-TG |
c.193_194delinsTG |
p.A65C |
Missense |
2/4 |
- |
1 |
16-29824569-C-A |
c.194C>A |
p.A65D |
Missense |
2/4 |
- |
1 |
16-29824569-C-G |
c.194C>G |
p.A65G |
Missense |
2/4 |
- |
1 |
16-29824570-T-A |
c.195T>A |
p.A65= |
Synonymous |
2/4 |
- |
2 |
16-29824570-T-C |
c.195T>C |
p.A65= |
Synonymous |
2/4 |
- |
2 |
16-29824570-T-G |
c.195T>G |
p.A65= |
Synonymous |
2/4 |
- |
2 |
16-29824573-G-A |
c.198G>A |
p.G66= |
Synonymous |
2/4 |
- |
2 |
16-29824573-G-C |
c.198G>C |
p.G66= |
Synonymous |
2/4 |
- |
1 |
16-29824574-C-G |
c.199C>G |
p.L67V |
Missense |
2/4 |
- |
1 |
16-29824575-T-C |
c.200T>C |
p.L67P |
Missense |
2/4 |
- |
2 |
16-29824575-T-G |
c.200T>G |
p.L67R |
Missense |
2/4 |
- |
1 |
16-29824577-G-T |
c.202G>T |
p.A68S |
Missense |
2/4 |
- |
1 |
16-29824578-CT-AG |
c.203_204inv |
p.A68E |
Missense |
2/4 |
- |
2 |
16-29824581-C-T |
c.206C>T |
p.P69L |
Missense |
2/4 |
- |
1 |
16-29824583-G-A |
c.208G>A |
p.E70K |
Missense |
2/4 |
- |
2 |
16-29824583-G-C |
c.208G>C |
p.E70Q |
Missense |
2/4 |
- |
1 |
16-29824584-A-G |
c.209A>G |
p.E70G |
Missense |
2/4 |
- |
1 |
16-29824586-ACC-GAG |
c.211_213delinsGAG |
p.T71E |
Missense |
2/4 |
- |
1 |
16-29824586-A-G |
c.211A>G |
p.T71A |
Missense |
2/4 |
- |
1 |
16-29824589-ACA-GAC |
c.214_216delinsGAC |
p.T72D |
Missense |
2/4 |
- |
2 |
16-29824589-AC-GA |
c.214_215delinsGA |
p.T72E |
Missense |
2/4 |
- |
2 |
16-29824589-A-G |
c.214A>G |
p.T72A |
Missense |
2/4 |
- |
1 |
16-29824590-CA-TG |
c.215_216inv |
p.T72M |
Missense |
2/4 |
- |
1 |
16-29824594-G-C |
c.219G>C |
p.E73D |
Missense |
2/4 |
- |
1 |
16-29824594-G-T |
c.219G>T |
p.E73D |
Missense |
2/4 |
- |
1 |
16-29824595-A-G |
c.220A>G |
p.T74A |
Missense |
2/4 |
- |
1 |
16-29824598-C-A |
c.223C>A |
p.P75T |
Missense |
2/4 |
- |
1 |
16-29824599-C-G |
c.224C>G |
p.P75R |
Missense |
2/4 |
- |
1 |
16-29824599-C-T |
c.224C>T |
p.P75L |
Missense |
2/4 |
- |
3 |
16-29824600-G-A |
c.225G>A |
p.P75= |
Synonymous |
2/4 |
- |
3 |
16-29824600-G-C |
c.225G>C |
p.P75= |
Synonymous |
2/4 |
- |
2 |
16-29824600-G-T |
c.225G>T |
p.P75= |
Synonymous |
2/4 |
- |
3 |
16-29824601-GC-TT |
c.226_227delinsTT |
p.A76F |
Missense |
2/4 |
- |
2 |
16-29824602-C-T |
c.227C>T |
p.A76V |
Missense |
2/4 |
- |
1 |
16-29824604-G-C |
c.229G>C |
p.G77R |
Missense |
2/4 |
- |
1 |
16-29824605-G-A |
c.230G>A |
p.G77E |
Missense |
2/4 |
- |
1 |
16-29824606-G-A |
c.231G>A |
p.G77= |
Synonymous |
2/4 |
- |
1 |
16-29824607-G-A |
c.232G>A |
p.A78T |
Missense |
2/4 |
- |
1 |
16-29824607-G-C |
c.232G>C |
p.A78P |
Missense |
2/4 |
- |
2 |
16-29824608-C-A |
c.233C>A |
p.A78D |
Missense |
2/4 |
- |
1 |
16-29824608-C-T |
c.233C>T |
p.A78V |
Missense |
2/4 |
- |
1 |
16-29824610-T-G |
c.235T>G |
p.S79A |
Missense |
2/4 |
- |
3 |
16-29824611-CA-GT |
c.236_237delinsGT |
p.S79C |
Missense |
2/4 |
- |
1 |
16-29824611-C-T |
c.236C>T |
p.S79L |
Missense |
2/4 |
- |
3 |
16-29824613-GA-AT |
c.238_239delinsAT |
p.E80I |
Missense |
2/4 |
- |
9 |
16-29824615-A-C |
c.240A>C |
p.E80D |
Missense |
2/4 |
- |
1 |
16-29824616-ACA-GAC |
c.241_243delinsGAC |
p.T81D |
Missense |
2/4 |
- |
1 |
16-29824616-A-G |
c.241A>G |
p.T81A |
Missense |
2/4 |
- |
2 |
16-29824616-A-T |
c.241A>T |
p.T81S |
Missense |
2/4 |
- |
1 |
16-29824617-CA-AC |
c.242_243delinsAC |
p.T81N |
Missense |
2/4 |
- |
1 |
16-29824619-G-A |
c.244G>A |
p.A82T |
Missense |
2/4 |
- |
1 |
16-29824620-C-A |
c.245C>A |
p.A82D |
Missense |
2/4 |
- |
1 |
16-29824621-C-A |
c.246C>A |
p.A82= |
Synonymous |
2/4 |
- |
1 |
16-29824621-C-G |
c.246C>G |
p.A82= |
Synonymous |
2/4 |
- |
1 |
16-29824621-C-T |
c.246C>T |
p.A82= |
Synonymous |
2/4 |
- |
1 |
16-29824625-G-A |
c.250G>A |
p.A84T |
Missense |
2/4 |
- |
1 |
16-29824626-CC-AG |
c.251_252delinsAG |
p.A84E |
Missense |
2/4 |
- |
1 |
16-29824626-C-T |
c.251C>T |
p.A84V |
Missense |
2/4 |
- |
3 |
16-29824627-C-A |
c.252C>A |
p.A84= |
Synonymous |
2/4 |
- |
1 |
16-29824627-C-G |
c.252C>G |
p.A84= |
Synonymous |
2/4 |
- |
1 |
16-29824627-C-T |
c.252C>T |
p.A84= |
Synonymous |
2/4 |
- |
1 |
16-29824628-ACA-GAC |
c.253_255delinsGAC |
p.T85D |
Missense |
2/4 |
- |
1 |
16-29824628-AC-GA |
c.253_254delinsGA |
p.T85E |
Missense |
2/4 |
- |
1 |
16-29824628-A-G |
c.253A>G |
p.T85A |
Missense |
2/4 |
- |
2 |
16-29824629-CA-AC |
c.254_255delinsAC |
p.T85N |
Missense |
2/4 |
- |
1 |
16-29824632-A-C |
c.257A>C |
p.D86A |
Missense |
2/4 |
- |
1 |
16-29824634-C-G |
c.259C>G |
p.L87V |
Missense |
2/4 |
- |
1 |
16-29824637-AGC-TGA |
c.262_264delinsTGA |
p.S88* |
Nonsense |
2/4 |
- |
3 |
16-29824637-AG-TT |
c.262_263delinsTT |
p.S88F |
Missense |
2/4 |
- |
2 |
16-29824638-AG-A |
c.263del |
p.S88Tfs*2 |
Frameshift |
2/4 |
- |
1 |
16-29824640-TTA-ATG |
c.265_267delinsATG |
p.L89M |
Missense |
2/4 |
- |
1 |
16-29824640-TT-CA |
c.265_266delinsCA |
p.L89Q |
Missense |
2/4 |
- |
1 |
16-29824643-AG-CC |
c.268_269delinsCC |
p.S90P |
Missense |
2/4 |
- |
1 |
16-29824643-AGC-GAG |
c.268_270delinsGAG |
p.S90E |
Missense |
2/4 |
- |
1 |
16-29824643-AG-GC |
c.268_269delinsGC |
p.S90A |
Missense |
2/4 |
- |
1 |
16-29824643-A-C |
c.268A>C |
p.S90R |
Missense |
2/4 |
- |
1 |
16-29824645-C-A |
c.270C>A |
p.S90R |
Missense |
2/4 |
- |
2 |
16-29824645-C-G |
c.270C>G |
p.S90R |
Missense |
2/4 |
- |
1 |
16-29824646-C-A |
c.271C>A |
p.P91T |
Missense |
2/4 |
- |
1 |
16-29824646-CCA-AAC |
c.271_273delinsAAC |
p.P91N |
Missense |
2/4 |
- |
1 |
16-29824646-C-G |
c.271C>G |
p.P91A |
Missense |
2/4 |
- |
2 |
16-29824644-GC-G |
c.272del |
p.P91Qfs*24 |
Frameshift |
2/4 |
- |
3 |
16-29824647-C-T |
c.272C>T |
p.P91L |
Missense |
2/4 |
- |
2 |
16-29824649-G-A |
c.274G>A |
p.G92R |
Missense |
2/4 |
- |
1 |
16-29824649-G-C |
c.274G>C |
p.G92R |
Missense |
2/4 |
- |
1 |
16-29824650-G-A |
c.275G>A |
p.G92E |
Missense |
2/4 |
- |
1 |
16-29824650-G-C |
c.275G>C |
p.G92A |
Missense |
2/4 |
- |
1 |
16-29824652-GGG-AGC |
c.277_279delinsAGC |
p.G93S |
Missense |
2/4 |
- |
1 |
16-29824653-G-C |
c.278G>C |
p.G93A |
Missense |
2/4 |
- |
126 |
16-29824653-G-T |
c.278G>T |
p.G93V |
Missense |
2/4 |
- |
1 |
16-29824656-A-T |
c.281A>T |
p.E94V |
Missense |
2/4 |
- |
1 |
16-29824658-TCA-GAC |
c.283_285delinsGAC |
p.S95D |
Missense |
2/4 |
- |
1 |
16-29824658-T-G |
c.283T>G |
p.S95A |
Missense |
2/4 |
- |
1 |
16-29824659-C-G |
c.284C>G |
p.S95* |
Nonsense |
2/4 |
- |
1 |
16-29824660-A-C |
c.285A>C |
p.S95= |
Synonymous |
2/4 |
- |
1 |
16-29824660-A-G |
c.285A>G |
p.S95= |
Synonymous |
2/4 |
- |
1 |
16-29824660-A-T |
c.285A>T |
p.S95= |
Synonymous |
2/4 |
- |
1 |
16-29824663-G-A |
c.288G>A |
p.K96= |
Synonymous |
2/4 |
- |
1 |
16-29824662-AG-A |
c.289del |
p.A97Pfs*18 |
Frameshift |
2/4 |
- |
1 |
16-29824664-G-A |
c.289G>A |
p.A97T |
Missense |
2/4 |
- |
2 |
16-29824664-GCC-ATG |
c.289_291delinsATG |
p.A97M |
Missense |
2/4 |
- |
1 |
16-29824665-C-A |
c.290C>A |
p.A97D |
Missense |
2/4 |
- |
2 |
16-29824665-C-T |
c.290C>T |
p.A97V |
Missense |
2/4 |
- |
1 |
16-29824668-A-G |
c.293A>G |
p.N98S |
Missense |
2/4 |
- |
2 |
16-29824669-C-T |
c.294C>T |
p.N98= |
Synonymous |
2/4 |
- |
1 |
16-29824670-T-C |
c.295T>C |
p.C99R |
Missense |
2/4 |
- |
2 |
16-29824670-TG-AA |
c.295_296delinsAA |
p.C99N |
Missense |
2/4 |
- |
1 |
16-29824670-TG-CA |
c.295_296inv |
p.C99H |
Missense |
2/4 |
- |
1 |
16-29824670-TG-GC |
c.295_296delinsGC |
p.C99A |
Missense |
2/4 |
- |
2 |
16-29824671-G-A |
c.296G>A |
p.C99Y |
Missense |
2/4 |
- |
1 |
16-29824671-G-T |
c.296G>T |
p.C99F |
Missense |
2/4 |
- |
1 |
16-29824673-A-AC |
c.298_299insC |
p.S100Tfs*34 |
Frameshift |
2/4 |
- |
1 |
16-29824673-A-G |
c.298A>G |
p.S100G |
Missense |
2/4 |
- |
9 |
16-29824673-AG-CC |
c.298_299delinsCC |
p.S100P |
Missense |
2/4 |
- |
28 |
16-29824673-AGC-GAG |
c.298_300delinsGAG |
p.S100E |
Missense |
2/4 |
- |
1 |
16-29824673-AG-CT |
c.298_299inv |
p.S100L |
Missense |
2/4 |
- |
1 |
16-29824673-AG-GC |
c.298_299delinsGC |
p.S100A |
Missense |
2/4 |
- |
19 |
16-29824673-A-T |
c.298A>T |
p.S100C |
Missense |
2/4 |
- |
7 |
16-29824674-G-A |
c.299G>A |
p.S100N |
Missense |
2/4 |
- |
2 |
16-29824675-C-T |
c.300C>T |
p.S100= |
Synonymous |
2/4 |
- |
1 |
16-29824676-C-T |
c.301C>T |
p.P101S |
Missense |
2/4 |
- |
1 |
16-29824677-C-T |
c.302C>T |
p.P101L |
Missense |
2/4 |
- |
1 |
16-29824674-GC-G |
c.303del |
p.E102Kfs*13 |
Frameshift |
2/4 |
- |
1 |
16-29824678-C-A |
c.303C>A |
p.P101= |
Synonymous |
2/4 |
- |
1 |
16-29824678-C-G |
c.303C>G |
p.P101= |
Synonymous |
2/4 |
- |
1 |
16-29824678-C-T |
c.303C>T |
p.P101= |
Synonymous |
2/4 |
- |
1 |
16-29824679-G-A |
c.304G>A |
p.E102K |
Missense |
2/4 |
- |
2 |
16-29824679-G-C |
c.304G>C |
p.E102Q |
Missense |
2/4 |
- |
1 |
16-29824681-A-C |
c.306A>C |
p.E102D |
Missense |
2/4 |
- |
1 |
16-29824681-A-T |
c.306A>T |
p.E102D |
Missense |
2/4 |
- |
1 |
16-29824686-C-T |
c.311C>T |
p.P104L |
Missense |
2/4 |
- |
5 |
16-29824688-T-A |
c.313T>A |
p.C105S |
Missense |
2/4 |
- |
1 |
16-29824688-TG-AC |
c.313_314delinsAC |
p.C105T |
Missense |
2/4 |
- |
1 |
16-29824688-TG-CA |
c.313_314inv |
p.C105H |
Missense |
2/4 |
- |
1 |
16-29824688-TG-GC |
c.313_314delinsGC |
p.C105A |
Missense |
2/4 |
- |
1 |
16-29824689-G-C |
c.314G>C |
p.C105S |
Missense |
2/4 |
- |
2 |
16-29824689-G-A |
c.314G>A |
p.C105Y |
Missense |
2/4 |
- |
1 |
16-29824694-G-A |
c.319G>A |
p.E107K |
Missense |
2/4 |
- |
2 |
16-29824696-A-C |
c.321A>C |
p.E107D |
Missense |
2/4 |
- |
1 |
16-29824694-GA-G |
c.322del |
p.T108Qfs*7 |
Frameshift |
2/4 |
- |
1 |
16-29824694-G-GA |
c.322dup |
p.T108Nfs*26 |
Frameshift |
2/4 |
- |
1 |
16-29824697-AC-GA |
c.322_323delinsGA |
p.T108E |
Missense |
2/4 |
- |
1 |
16-29824697-A-G |
c.322A>G |
p.T108A |
Missense |
2/4 |
- |
5 |
16-29824697-A-T |
c.322A>T |
p.T108S |
Missense |
2/4 |
- |
2 |
16-29824696-AAC-A |
c.323_324del |
p.T108Sfs*25 |
Frameshift |
2/4 |
- |
2 |
16-29824694-GAAACAGTGTCC-G |
c.324_334del |
p.V109Rfs*21 |
Frameshift |
2/4 |
- |
1 |
16-29824703-TC-CG |
c.328_329delinsCG |
p.S110R |
Missense |
2/4 |
- |
1 |
16-29824703-TC-GA |
c.328_329inv |
p.S110D |
Missense |
2/4 |
- |
1 |
16-29824703-T-G |
c.328T>G |
p.S110A |
Missense |
2/4 |
- |
6 |
16-29824706-A-C |
c.331A>C |
p.K111Q |
Missense |
2/4 |
- |
1 |
16-29824706-A-G |
c.331A>G |
p.K111E |
Missense |
2/4 |
- |
1 |
16-29824708-A-C |
c.333A>C |
p.K111N |
Missense |
2/4 |
- |
1 |
16-29824708-A-T |
c.333A>T |
p.K111N |
Missense |
2/4 |
- |
1 |
16-29824710-C-T |
c.335C>T |
p.P112L |
Missense |
2/4 |
- |
1 |
16-29824712-G-C |
c.337G>C |
p.E113Q |
Missense |
2/4 |
- |
2 |
16-29824714-AGT-A |
c.341_342del |
p.V114Efs*19 |
Frameshift |
2/4 |
- |
1 |
16-29824716-T-C |
c.341T>C |
p.V114A |
Missense |
2/4 |
- |
3 |
16-29824716-T-G |
c.341T>G |
p.V114G |
Missense |
2/4 |
- |
1 |
16-29824718-AG-GA |
c.343_344delinsGA |
p.S115D |
Missense |
2/4 |
- |
2 |
16-29824718-AG-GC |
c.343_344delinsGC |
p.S115A |
Missense |
2/4 |
- |
2 |
16-29824719-G-A |
c.344G>A |
p.S115N |
Missense |
2/4 |
- |
4 |
16-29824719-GC-AG |
c.344_345delinsAG |
p.S115K |
Missense |
2/4 |
- |
1 |
16-29824722-A-G |
c.347A>G |
p.K116R |
Missense |
2/4 |
- |
2 |
16-29824722-A-T |
c.347A>T |
p.K116I |
Missense |
2/4 |
- |
1 |
16-29824720-C-CA |
c.348dup |
p.E117Rfs*17 |
Frameshift |
2/4 |
- |
1 |
16-29824724-G-A |
c.349G>A |
p.E117K |
Missense |
2/4 |
- |
2 |
16-29824724-GAG-TGT |
c.349_351delinsTGT |
p.E117C |
Missense |
2/4 |
- |
1 |
16-29824724-G-C |
c.349G>C |
p.E117Q |
Missense |
2/4 |
- |
1 |
16-29824725-A-C |
c.350A>C |
p.E117A |
Missense |
2/4 |
- |
1 |
16-29824725-A-G |
c.350A>G |
p.E117G |
Missense |
2/4 |
- |
1 |
16-29824726-G-C |
c.351G>C |
p.E117D |
Missense |
2/4 |
- |
1 |
16-29824726-G-T |
c.351G>T |
p.E117D |
Missense |
2/4 |
- |
1 |
16-29824727-G-A |
c.352G>A |
p.A118T |
Missense |
2/4 |
- |
4 |
16-29824727-G-T |
c.352G>T |
p.A118S |
Missense |
2/4 |
- |
1 |
16-29824728-CC-AG |
c.353_354delinsAG |
p.A118E |
Missense |
2/4 |
- |
1 |
16-29824728-C-G |
c.353C>G |
p.A118G |
Missense |
2/4 |
- |
10 |
16-29824730-A-G |
c.355A>G |
p.T119A |
Missense |
2/4 |
- |
2 |
16-29824733-G-A |
c.358G>A |
p.A120T |
Missense |
2/4 |
- |
1 |
16-29824734-C-A |
c.359C>A |
p.A120E |
Missense |
2/4 |
- |
4 |
16-29824734-CA-AC |
c.359_360delinsAC |
p.A120D |
Missense |
2/4 |
- |
1 |
16-29824738-C-A |
c.363C>A |
p.D121E |
Missense |
2/4 |
- |
1 |
16-29824738-C-G |
c.363C>G |
p.D121E |
Missense |
2/4 |
- |
1 |
16-29824739-C-A |
c.364C>A |
p.Q122K |
Missense |
2/4 |
- |
2 |
16-29824739-CA-GC |
c.364_365delinsGC |
p.Q122A |
Missense |
2/4 |
- |
1 |
16-29824740-A-C |
c.365A>C |
p.Q122P |
Missense |
2/4 |
- |
1 |
16-29824741-G-C |
c.366G>C |
p.Q122H |
Missense |
2/4 |
- |
1 |
16-29824741-G-T |
c.366G>T |
p.Q122H |
Missense |
2/4 |
- |
1 |
16-29824742-GGG-AGC |
c.367_369delinsAGC |
p.G123S |
Missense |
2/4 |
- |
1 |
16-29824743-G-A |
c.368G>A |
p.G123E |
Missense |
2/4 |
- |
1 |
16-29824740-A-AG |
c.369dup |
p.S124Vfs*10 |
Frameshift |
2/4 |
- |
3 |
16-29824745-TC-GA |
c.370_371inv |
p.S124D |
Missense |
2/4 |
- |
2 |
16-29824745-T-G |
c.370T>G |
p.S124A |
Missense |
2/4 |
- |
6 |
16-29824746-C-T |
c.371C>T |
p.S124F |
Missense |
2/4 |
- |
1 |
16-29824748-A-G |
c.373A>G |
p.R125G |
Missense |
2/4 |
- |
1 |
16-29824748-AGG-CAT |
c.373_375delinsCAT |
p.R125H |
Missense |
2/4 |
- |
2 |
16-29824748-AGG-TGT |
c.373_375delinsTGT |
p.R125C |
Missense |
2/4 |
- |
4 |
16-29824748-A-T |
c.373A>T |
p.R125W |
Missense |
2/4 |
- |
1 |
16-29824749-GG-TC |
c.374_375delinsTC |
p.R125I |
Missense |
2/4 |
- |
1 |
16-29824750-G-C |
c.375G>C |
p.R125S |
Missense |
2/4 |
- |
1 |
16-29824750-G-T |
c.375G>T |
p.R125S |
Missense |
2/4 |
- |
1 |
16-29824754-G-A |
c.379G>A |
p.E127K |
Missense |
2/4 |
- |
1 |
16-29824754-G-C |
c.379G>C |
p.E127Q |
Missense |
2/4 |
- |
1 |
16-29824756-G-A |
c.381G>A |
p.E127= |
Synonymous |
2/4 |
- |
1 |
16-29824757-TC-AA |
c.382_383delinsAA |
p.S128N |
Missense |
2/4 |
- |
1 |
16-29824757-TC-CG |
c.382_383delinsCG |
p.S128R |
Missense |
2/4 |
- |
1 |
16-29824757-TC-GA |
c.382_383inv |
p.S128D |
Missense |
2/4 |
- |
1 |
16-29824757-T-G |
c.382T>G |
p.S128A |
Missense |
2/4 |
- |
4 |
16-29824758-C-A |
c.383C>A |
p.S128Y |
Missense |
2/4 |
- |
1 |
16-29824760-G-A |
c.385G>A |
p.A129T |
Missense |
2/4 |
- |
4 |
16-29824761-C-A |
c.386C>A |
p.A129E |
Missense |
2/4 |
- |
2 |
16-29824761-C-CA |
c.387dup |
p.A130Sfs*4 |
Frameshift |
2/4 |
- |
1 |
16-29824763-G-A |
c.388G>A |
p.A130T |
Missense |
2/4 |
- |
1 |
16-29824763-G-T |
c.388G>T |
p.A130S |
Missense |
2/4 |
- |
1 |
16-29824764-C-T |
c.389C>T |
p.A130V |
Missense |
2/4 |
- |
1 |
16-29824769-CC-AT |
c.394_395delinsAT |
p.P132I |
Missense |
2/4 |
- |
1 |
16-29824769-CC-GG |
c.394_395inv |
p.P132G |
Missense |
2/4 |
- |
1 |
16-29824769-CC-GT |
c.394_395delinsGT |
p.P132V |
Missense |
2/4 |
- |
1 |
16-29824769-CC-TT |
c.394_395delinsTT |
p.P132F |
Missense |
2/4 |
- |
1 |
16-29824769-CCT-TGG |
c.394_396delinsTGG |
p.P132W |
Missense |
2/4 |
- |
1 |
16-29824769-C-G |
c.394C>G |
p.P132A |
Missense |
2/4 |
- |
1 |
16-29824769-C-T |
c.394C>T |
p.P132S |
Missense |
2/4 |
- |
1 |
16-29824770-C-T |
c.395C>T |
p.P132L |
Missense |
2/4 |
- |
6 |
16-29824772-GA-AC |
c.397_398delinsAC |
p.E133T |
Missense |
2/4 |
- |
1 |
16-29824772-G-C |
c.397G>C |
p.E133Q |
Missense |
2/4 |
- |
3 |
16-29824772-TG-T |
c.397del |
p.E133Nfs*43 |
Frameshift |
2/4 |
- |
1 |
16-29824777-A-T |
c.402A>T |
p.P134= |
Synonymous |
2/4 |
- |
1 |
16-29824778-G-A |
c.403G>A |
p.A135T |
Missense |
2/4 |
- |
1 |
16-29824778-GC-CG |
c.403_404delinsCG |
p.A135R |
Missense |
2/4 |
- |
1 |
16-29824778-GC-TG |
c.403_404delinsTG |
p.A135C |
Missense |
2/4 |
- |
1 |
16-29824779-C-T |
c.404C>T |
p.A135V |
Missense |
2/4 |
- |
1 |
16-29824782-C-A |
c.407C>A |
p.P136Q |
Missense |
2/4 |
- |
1 |
16-29824783-A-C |
c.408A>C |
p.P136= |
Synonymous |
2/4 |
- |
1 |
16-29824783-A-G |
c.408A>G |
p.P136= |
Synonymous |
2/4 |
- |
1 |
16-29824783-A-T |
c.408A>T |
p.P136= |
Synonymous |
2/4 |
- |
1 |
16-29824786-G-C |
c.411G>C |
p.E137D |
Missense |
2/4 |
- |
1 |
16-29824786-G-T |
c.411G>T |
p.E137D |
Missense |
2/4 |
- |
1 |
16-29824787-C-G |
c.412C>G |
p.P138A |
Missense |
2/4 |
- |
20 |
16-29824787-C-T |
c.412C>T |
p.P138S |
Missense |
2/4 |
- |
4 |
16-29824789-T-A |
c.414T>A |
p.P138= |
Synonymous |
2/4 |
- |
1 |
16-29824789-T-C |
c.414T>C |
p.P138= |
Synonymous |
2/4 |
- |
1 |
16-29824789-T-G |
c.414T>G |
p.P138= |
Synonymous |
2/4 |
- |
1 |
16-29824790-G-A |
c.415G>A |
p.A139T |
Missense |
2/4 |
- |
1 |
16-29824791-C-A |
c.416C>A |
p.A139D |
Missense |
2/4 |
- |
1 |
16-29824792-T-A |
c.417T>A |
p.A139= |
Synonymous |
2/4 |
- |
2 |
16-29824792-T-C |
c.417T>C |
p.A139= |
Synonymous |
2/4 |
- |
2 |
16-29824792-T-G |
c.417T>G |
p.A139= |
Synonymous |
2/4 |
- |
2 |
16-29824793-C-A |
c.418C>A |
p.P140T |
Missense |
2/4 |
- |
1 |
16-29824793-C-G |
c.418C>G |
p.P140A |
Missense |
2/4 |
- |
1 |
16-29824793-C-T |
c.418C>T |
p.P140S |
Missense |
2/4 |
- |
1 |
16-29824794-C-G |
c.419C>G |
p.P140R |
Missense |
2/4 |
- |
1 |
16-29824794-C-T |
c.419C>T |
p.P140L |
Missense |
2/4 |
- |
1 |
16-29824796-C-A |
c.421C>A |
p.Q141K |
Missense |
2/4 |
- |
1 |
16-29824796-C-T |
c.421C>T |
p.Q141* |
Nonsense |
2/4 |
- |
1 |
16-29824797-A-T |
c.422A>T |
p.Q141L |
Missense |
2/4 |
- |
1 |
16-29824800-C-T |
c.425C>T |
p.P142L |
Missense |
2/4 |
- |
1 |
16-29824802-G-A |
c.427G>A |
p.D143N |
Missense |
2/4 |
- |
1 |
16-29824804-C-T |
c.429C>T |
p.D143= |
Synonymous |
2/4 |
- |
1 |
16-29824805-C-A |
c.430C>A |
p.P144T |
Missense |
2/4 |
- |
1 |
16-29824805-C-T |
c.430C>T |
p.P144S |
Missense |
2/4 |
- |
1 |
16-29824806-C-T |
c.431C>T |
p.P144L |
Missense |
2/4 |
- |
1 |
16-29824803-AC-A |
c.433del |
p.R145Gfs*31 |
Frameshift |
2/4 |
- |
2 |
16-29824808-C-G |
c.433C>G |
p.R145G |
Missense |
2/4 |
- |
13 |
16-29824808-CGG-AGC |
c.433_435delinsAGC |
p.R145S |
Missense |
2/4 |
- |
1 |
16-29824808-CGG-ATC |
c.433_435delinsATC |
p.R145I |
Missense |
2/4 |
- |
1 |
16-29824808-C-T |
c.433C>T |
p.R145W |
Missense |
2/4 |
- |
8 |
16-29824809-G-A |
c.434G>A |
p.R145Q |
Missense |
2/4 |
- |
11 |
16-29824811-C-T |
c.436C>T |
p.P146S |
Missense |
2/4 |
- |
1 |
16-29824814-G-C |
c.439G>C |
p.D147H |
Missense |
2/4 |
- |
15 |
16-29824814-G-T |
c.439G>T |
p.D147Y |
Missense |
2/4 |
- |
1 |
16-29824817-T-C |
c.442T>C |
p.S148P |
Missense |
2/4 |
- |
1 |
16-29824817-T-G |
c.442T>G |
p.S148A |
Missense |
2/4 |
- |
2 |
16-29824818-C-G |
c.443C>G |
p.S148C |
Missense |
2/4 |
- |
1 |
16-29824818-C-T |
c.443C>T |
p.S148F |
Missense |
2/4 |
- |
1 |
16-29824820-C-A |
c.445C>A |
p.Q149K |
Missense |
2/4 |
- |
1 |
16-29824822-G-C |
c.447G>C |
p.Q149H |
Missense |
2/4 |
- |
1 |
16-29824822-G-T |
c.447G>T |
p.Q149H |
Missense |
2/4 |
- |
1 |
16-29824823-CC-AT |
c.448_449delinsAT |
p.P150I |
Missense |
2/4 |
- |
1 |
16-29824824-C-G |
c.449C>G |
p.P150R |
Missense |
2/4 |
- |
1 |
16-29824824-C-T |
c.449C>T |
p.P150L |
Missense |
2/4 |
- |
1 |
16-29824825-T-A |
c.450T>A |
p.P150= |
Synonymous |
2/4 |
- |
1 |
16-29824825-T-C |
c.450T>C |
p.P150= |
Synonymous |
2/4 |
- |
1 |
16-29824825-T-G |
c.450T>G |
p.P150= |
Synonymous |
2/4 |
- |
1 |
16-29824826-AC-CT |
c.451_452delinsCT |
p.T151L |
Missense |
2/4 |
- |
1 |
16-29824827-C-A |
c.452C>A |
p.T151N |
Missense |
2/4 |
- |
1 |
16-29824830-C-A |
c.455C>A |
p.P152H |
Missense |
2/4 |
- |
1 |
16-29824826-AC-A |
c.456del |
p.K153Sfs*23 |
Frameshift |
2/4 |
- |
1 |
16-29824832-AA-GC |
c.457_458delinsGC |
p.K153A |
Missense |
2/4 |
- |
1 |
16-29824834-G-C |
c.459G>C |
p.K153N |
Missense |
2/4 |
- |
2 |
16-29824834-G-T |
c.459G>T |
p.K153N |
Missense |
2/4 |
- |
2 |
16-29824835-CC-GG |
c.460_461inv |
p.P154G |
Missense |
2/4 |
- |
2 |
16-29824835-C-T |
c.460C>T |
p.P154S |
Missense |
2/4 |
- |
2 |
16-29824841-C-T |
c.466C>T |
p.L156F |
Missense |
2/4 |
- |
1 |
16-29824842-T-G |
c.467T>G |
p.L156R |
Missense |
2/4 |
- |
1 |
16-29824844-C-T |
c.469C>T |
p.Q157* |
Nonsense |
2/4 |
- |
1 |
16-29824847-C-T |
c.472C>T |
p.P158S |
Missense |
2/4 |
- |
2 |
16-29824850-G-C |
c.475G>C |
p.E159Q |
Missense |
2/4 |
- |
1 |
16-29824855-C-T |
c.480C>T |
p.L160= |
Synonymous |
2/4 |
- |
1 |
16-29824859-AC-GA |
c.484_485delinsGA |
p.T162D |
Missense |
2/4 |
- |
2 |
16-29824859-A-G |
c.484A>G |
p.T162A |
Missense |
2/4 |
- |
3 |
16-29824860-C-T |
c.485C>T |
p.T162I |
Missense |
2/4 |
- |
1 |
16-29824861-C-A |
c.486C>A |
p.T162= |
Synonymous |
2/4 |
- |
2 |
16-29824861-C-G |
c.486C>G |
p.T162= |
Synonymous |
2/4 |
- |
1 |
16-29824861-C-T |
c.486C>T |
p.T162= |
Synonymous |
2/4 |
- |
1 |
16-29824862-CA-GC |
c.487_488delinsGC |
p.Q163A |
Missense |
2/4 |
- |
1 |
16-29824862-C-T |
c.487C>T |
p.Q163* |
Nonsense |
2/4 |
- |
8 |
16-29824858-TACCCAGGAGG-T |
c.488_497del |
p.Q163Pfs*10 |
Frameshift |
2/4 |
- |
1 |
16-29824864-G-A |
c.489G>A |
p.Q163= |
Synonymous |
2/4 |
- |
1 |
16-29824863-AG-A |
c.490del |
p.E164Rfs*12 |
Frameshift |
2/4 |
- |
1 |
16-29824865-G-A |
c.490G>A |
p.E164K |
Missense |
2/4 |
- |
1 |
16-29824866-A-C |
c.491A>C |
p.E164A |
Missense |
2/4 |
- |
1 |
16-29824868-G-A |
c.493G>A |
p.D165N |
Missense |
2/4 |
- |
7 |
16-29824869-A-G |
c.494A>G |
p.D165G |
Missense |
2/4 |
- |
2 |
16-29824872-C-T |
c.497C>T |
p.P166L |
Missense |
2/4 |
- |
1 |
16-29824874-ACC-GAG |
c.499_501delinsGAG |
p.T167E |
Missense |
2/4 |
- |
1 |
16-29824874-AC-GA |
c.499_500delinsGA |
p.T167D |
Missense |
2/4 |
- |
1 |
16-29824874-A-G |
c.499A>G |
p.T167A |
Missense |
2/4 |
- |
3 |
16-29824875-CC-AG |
c.500_501delinsAG |
p.T167K |
Missense |
2/4 |
- |
1 |
16-29824875-CC-GG |
c.500_501inv |
p.T167R |
Missense |
2/4 |
- |
1 |
16-29824875-C-T |
c.500C>T |
p.T167I |
Missense |
2/4 |
- |
3 |
16-29824876-C-T |
c.501C>T |
p.T167= |
Synonymous |
2/4 |
- |
2 |
16-29824877-CCT-AAG |
c.502_504delinsAAG |
p.P168K |
Missense |
2/4 |
- |
1 |
16-29824881-A-C |
c.506A>C |
p.E169A |
Missense |
2/4 |
- |
1 |
16-29824881-A-G |
c.506A>G |
p.E169G |
Missense |
2/4 |
- |
1 |
16-29824882-G-C |
c.507G>C |
p.E169D |
Missense |
2/4 |
- |
1 |
16-29824882-G-T |
c.507G>T |
p.E169D |
Missense |
2/4 |
- |
1 |
16-29824887-T-TGC |
c.513_514insCG |
p.S172Rfs*5 |
Frameshift |
2/4 |
- |
1 |
16-29824884-TTCTG-T |
c.514_517del |
p.S172Rfs*3 |
Frameshift |
2/4 |
- |
4 |
16-29824889-TC-GA |
c.514_515inv |
p.S172D |
Missense |
2/4 |
- |
1 |
16-29824889-TCT-GAG |
c.514_516delinsGAG |
p.S172E |
Missense |
2/4 |
- |
3 |
16-29824889-T-G |
c.514T>G |
p.S172A |
Missense |
2/4 |
- |
4 |
16-29824892-G-T |
c.517G>T |
p.E173* |
Nonsense |
2/4 |
- |
5 |
16-29824893-A-C |
c.518A>C |
p.E173A |
Missense |
2/4 |
- |
2 |
16-29824895-AG-GA |
c.520_521delinsGA |
p.S174D |
Missense |
2/4 |
- |
1 |
16-29824895-AG-GC |
c.520_521delinsGC |
p.S174A |
Missense |
2/4 |
- |
5 |
16-29824895-AGT-GAG |
c.520_522delinsGAG |
p.S174E |
Missense |
2/4 |
- |
1 |
16-29824895-A-C |
c.520A>C |
p.S174R |
Missense |
2/4 |
- |
1 |
16-29824897-T-A |
c.522T>A |
p.S174R |
Missense |
2/4 |
- |
1 |
16-29824897-T-G |
c.522T>G |
p.S174R |
Missense |
2/4 |
- |
5 |
16-29824898-GTA-CAT |
c.523_525delinsCAT |
p.V175H |
Missense |
2/4 |
- |
1 |
16-29824899-T-C |
c.524T>C |
p.V175A |
Missense |
2/4 |
- |
1 |
16-29824901-G-A |
c.526G>A |
p.G176R |
Missense |
2/4 |
- |
1 |
16-29824902-G-A |
c.527G>A |
p.G176E |
Missense |
2/4 |
- |
1 |
16-29824903-G-A |
c.528G>A |
p.G176= |
Synonymous |
2/4 |
- |
1 |
16-29824903-G-C |
c.528G>C |
p.G176= |
Synonymous |
2/4 |
- |
1 |
16-29824903-G-T |
c.528G>T |
p.G176= |
Synonymous |
2/4 |
- |
1 |
16-29824904-G-A |
c.529G>A |
p.E177K |
Missense |
2/4 |
- |
1 |
16-29824904-GA-AG |
c.529_530delinsAG |
p.E177R |
Missense |
2/4 |
- |
1 |
16-29824905-A-T |
c.530A>T |
p.E177V |
Missense |
2/4 |
- |
1 |
16-29824907-AAAG-A |
c.532_534del |
p.K178del |
InFrameDeletion |
2/4 |
- |
1 |
16-29824907-AAG-GAC |
c.532_534delinsGAC |
p.K178D |
Missense |
2/4 |
- |
1 |
16-29824907-A-G |
c.532A>G |
p.K178E |
Missense |
2/4 |
- |
3 |
16-29824913-G-A |
c.538G>A |
p.E180K |
Missense |
2/4 |
- |
1 |
16-29824913-G-C |
c.538G>C |
p.E180Q |
Missense |
2/4 |
- |
1 |
16-29824914-A-G |
c.539A>G |
p.E180G |
Missense |
2/4 |
- |
11 |
16-29824914-A-T |
c.539A>T |
p.E180V |
Missense |
2/4 |
- |
1 |
16-29824919-GGG-AGC |
c.544_546delinsAGC |
p.G182S |
Missense |
2/4 |
- |
1 |
16-29824920-G-A |
c.545G>A |
p.G182E |
Missense |
2/4 |
- |
1 |
16-29824922-G-C |
c.547G>C |
p.A183P |
Missense |
2/4 |
- |
1 |
16-29824924-A-C |
c.549A>C |
p.A183= |
Synonymous |
2/4 |
- |
1 |
16-29824924-A-G |
c.549A>G |
p.A183= |
Synonymous |
2/4 |
- |
1 |
16-29824924-A-T |
c.549A>T |
p.A183= |
Synonymous |
2/4 |
- |
1 |
16-29824925-GT-TC |
c.550_551delinsTC |
p.V184S |
Missense |
2/4 |
- |
1 |
16-29824928-G-T |
c.553G>T |
p.V185L |
Missense |
2/4 |
- |
1 |
16-29824928-GTG-ATC |
c.553_555delinsATC |
p.V185I |
Missense |
2/4 |
- |
1 |
16-29824931-C-A |
c.556C>A |
p.P186T |
Missense |
2/4 |
- |
1 |
16-29824932-C-T |
c.557C>T |
p.P186L |
Missense |
2/4 |
- |
2 |
16-29824934-C-CT |
c.560dup |
p.Q188Afs*4 |
Frameshift |
2/4 |
- |
1 |
16-29824935-T-C |
c.560T>C |
p.L187P |
Missense |
2/4 |
- |
1 |
16-29824937-C-T |
c.562C>T |
p.Q188* |
Nonsense |
2/4 |
- |
1 |
16-29824942-T-A |
c.567T>A |
p.A189= |
Synonymous |
2/4 |
- |
1 |
16-29824942-T-C |
c.567T>C |
p.A189= |
Synonymous |
2/4 |
- |
1 |
16-29824942-T-G |
c.567T>G |
p.A189= |
Synonymous |
2/4 |
- |
1 |
16-29824946-G-C |
c.571G>C |
p.D191H |
Missense |
2/4 |
- |
1 |
16-29824946-G-T |
c.571G>T |
p.D191Y |
Missense |
2/4 |
- |
1 |
16-29824947-A-AT |
c.573dup |
p.G192Wfs*8 |
Frameshift |
2/4 |
- |
4 |
16-29824948-T-C |
c.573T>C |
p.D191= |
Synonymous |
2/4 |
- |
1 |
16-29824949-G-A |
c.574G>A |
p.G192R |
Missense |
2/4 |
- |
3 |
16-29824949-G-C |
c.574G>C |
p.G192R |
Missense |
2/4 |
- |
2 |
16-29824949-G-T |
c.574G>T |
p.G192W |
Missense |
2/4 |
- |
1 |
16-29824950-GG-AC |
c.575_576delinsAC |
p.G192D |
Missense |
2/4 |
- |
1 |
16-29824948-TG-T |
c.577del |
p.E193Kfs*36 |
Frameshift |
2/4 |
- |
1 |
16-29824952-G-T |
c.577G>T |
p.E193* |
Nonsense |
2/4 |
- |
1 |
16-29824952-G-GA |
c.579dup |
p.E194Rfs*6 |
Frameshift |
2/4 |
- |
1 |
16-29824955-G-A |
c.580G>A |
p.E194K |
Missense |
2/4 |
- |
2 |
16-29824956-A-C |
c.581A>C |
p.E194A |
Missense |
2/4 |
- |
2 |
16-29824968-CCT-C |
c.593_594del |
p.P198Rfs*26 |
Frameshift |
2/4 |
- |
2 |
16-29824968-C-T |
c.593C>T |
p.P198L |
Missense |
2/4 |
- |
3 |
16-29824970-G-A |
c.595G>A |
p.E199K |
Missense |
2/4 |
- |
1 |
16-29824970-G-T |
c.595G>T |
p.E199* |
Nonsense |
2/4 |
- |
3 |
16-29824972-G-C |
c.597G>C |
p.E199D |
Missense |
2/4 |
- |
1 |
16-29824972-G-T |
c.597G>T |
p.E199D |
Missense |
2/4 |
- |
2 |
16-29824976-C-A |
c.601C>A |
p.H201N |
Missense |
2/4 |
- |
2 |
16-29824976-C-T |
c.601C>T |
p.H201Y |
Missense |
2/4 |
- |
2 |
16-29824978-C-G |
c.603C>G |
p.H201Q |
Missense |
2/4 |
- |
1 |
16-29824973-CCTCA-C |
c.604_607del |
p.S202Hfs*26 |
Frameshift |
2/4 |
- |
6 |
16-29824979-CT-C |
c.604del |
p.S202Hfs*27 |
Frameshift |
2/4 |
- |
1 |
16-29824979-T-C |
c.604T>C |
p.S202P |
Missense |
2/4 |
- |
1 |
16-29824979-TC-GA |
c.604_605inv |
p.S202E |
Missense |
2/4 |
- |
1 |
16-29824979-T-G |
c.604T>G |
p.S202A |
Missense |
2/4 |
- |
1 |
16-29824980-C-T |
c.605C>T |
p.S202L |
Missense |
2/4 |
- |
1 |
16-29824982-C-G |
c.607C>G |
p.P203A |
Missense |
2/4 |
- |
2 |
16-29824982-C-T |
c.607C>T |
p.P203S |
Missense |
2/4 |
- |
3 |
16-29824983-C-T |
c.608C>T |
p.P203L |
Missense |
2/4 |
- |
1 |
16-29824979-TCAC-T |
c.609_611del |
p.P204del |
InFrameDeletion |
2/4 |
- |
1 |
16-29824987-C-G |
c.612C>G |
p.P204= |
Synonymous |
2/4 |
- |
1 |
16-29824987-C-T |
c.612C>T |
p.P204= |
Synonymous |
2/4 |
- |
2 |
16-29824988-TC-GT |
c.613_614delinsGT |
p.S205V |
Missense |
2/4 |
- |
1 |
16-29824988-T-G |
c.613T>G |
p.S205A |
Missense |
2/4 |
- |
5 |
16-29824989-C-T |
c.614C>T |
p.S205L |
Missense |
2/4 |
- |
2 |
16-29824991-AA-GC |
c.616_617delinsGC |
p.K206A |
Missense |
2/4 |
- |
1 |
16-29824991-A-C |
c.616A>C |
p.K206Q |
Missense |
2/4 |
- |
7 |
16-29824992-A-G |
c.617A>G |
p.K206R |
Missense |
2/4 |
- |
1 |
16-29824993-A-C |
c.618A>C |
p.K206N |
Missense |
2/4 |
- |
1 |
16-29824993-A-T |
c.618A>T |
p.K206N |
Missense |
2/4 |
- |
1 |
16-29824995-AA-TG |
c.620_621delinsTG |
p.K207M |
Missense |
2/4 |
- |
1 |
16-29824989-C-CA |
c.621dup |
p.S208Ifs*17 |
Frameshift |
2/4 |
- |
1 |
16-29824996-A-AC |
c.621_622insC |
p.S208Lfs*17 |
Frameshift |
2/4 |
- |
3 |
16-29824996-A-C |
c.621A>C |
p.K207N |
Missense |
2/4 |
- |
1 |
16-29824996-A-T |
c.621A>T |
p.K207N |
Missense |
2/4 |
- |
1 |
16-29824997-TCC-GAG |
c.622_624delinsGAG |
p.S208E |
Missense |
2/4 |
- |
2 |
16-29824997-T-G |
c.622T>G |
p.S208A |
Missense |
2/4 |
- |
4 |
16-29824998-C-A |
c.623C>A |
p.S208Y |
Missense |
2/4 |
- |
4 |
16-29824998-C-G |
c.623C>G |
p.S208C |
Missense |
2/4 |
- |
1 |
16-29824998-C-T |
c.623C>T |
p.S208F |
Missense |
2/4 |
- |
3 |
16-29824999-C-A |
c.624C>A |
p.S208= |
Synonymous |
2/4 |
- |
1 |
16-29824999-C-G |
c.624C>G |
p.S208= |
Synonymous |
2/4 |
- |
1 |
16-29824999-C-T |
c.624C>T |
p.S208= |
Synonymous |
2/4 |
- |
1 |
16-29825003-C-T |
c.628C>T |
p.P210S |
Missense |
2/4 |
- |
1 |
16-29824997-TC-T |
c.629del |
p.P210Qfs*19 |
Frameshift |
2/4 |
- |
5 |
16-29824997-T-TC |
c.629dup |
p.A211Sfs*14 |
Frameshift |
2/4 |
- |
8 |
16-29825004-C-CA |
c.630dup |
p.A211Sfs*14 |
Frameshift |
2/4 |
- |
1 |
16-29825005-A-C |
c.630A>C |
p.P210= |
Synonymous |
2/4 |
- |
1 |
16-29825005-A-G |
c.630A>G |
p.P210= |
Synonymous |
2/4 |
- |
1 |
16-29825005-A-T |
c.630A>T |
p.P210= |
Synonymous |
2/4 |
- |
1 |
16-29825008-C-T |
c.633C>T |
p.A211= |
Synonymous |
2/4 |
- |
1 |
16-29825009-AA-GC |
c.634_635delinsGC |
p.N212A |
Missense |
2/4 |
- |
1 |
16-29825009-A-C |
c.634A>C |
p.N212H |
Missense |
2/4 |
- |
1 |
16-29825010-A-C |
c.635A>C |
p.N212T |
Missense |
2/4 |
- |
2 |
16-29825010-A-G |
c.635A>G |
p.N212S |
Missense |
2/4 |
- |
2 |
16-29825012-G-A |
c.637G>A |
p.G213R |
Missense |
2/4 |
- |
1 |
16-29825012-G-C |
c.637G>C |
p.G213R |
Missense |
2/4 |
- |
1 |
16-29825012-GG-AC |
c.637_638delinsAC |
p.G213T |
Missense |
2/4 |
- |
1 |
16-29825013-GG-AC |
c.638_639delinsAC |
p.G213D |
Missense |
2/4 |
- |
1 |
16-29825011-TG-T |
c.640del |
p.A214Pfs*15 |
Frameshift |
2/4 |
- |
4 |
16-29825015-G-C |
c.640G>C |
p.A214P |
Missense |
2/4 |
- |
12 |
16-29825016-C-T |
c.641C>T |
p.A214V |
Missense |
2/4 |
- |
1 |
16-29825017-C-A |
c.642C>A |
p.A214= |
Synonymous |
2/4 |
- |
1 |
16-29825017-C-G |
c.642C>G |
p.A214= |
Synonymous |
2/4 |
- |
1 |
16-29825017-C-T |
c.642C>T |
p.A214= |
Synonymous |
2/4 |
- |
1 |
16-29825018-C-A |
c.643C>A |
p.P215T |
Missense |
2/4 |
- |
1 |
16-29825018-C-T |
c.643C>T |
p.P215S |
Missense |
2/4 |
- |
1 |
16-29825019-C-A |
c.644C>A |
p.P215H |
Missense |
2/4 |
- |
1 |
16-29825019-C-G |
c.644C>G |
p.P215R |
Missense |
2/4 |
- |
13 |
16-29825020-C-A |
c.645C>A |
p.P215= |
Synonymous |
2/4 |
- |
1 |
16-29825020-C-G |
c.645C>G |
p.P215= |
Synonymous |
2/4 |
- |
1 |
16-29825020-C-T |
c.645C>T |
p.P215= |
Synonymous |
2/4 |
- |
1 |
16-29825021-C-G |
c.646C>G |
p.P216A |
Missense |
2/4 |
- |
1 |
16-29825022-C-A |
c.647C>A |
p.P216H |
Missense |
2/4 |
- |
11 |
16-29825022-C-G |
c.647C>G |
p.P216R |
Missense |
2/4 |
- |
8 |
16-29825022-C-T |
c.647C>T |
p.P216L |
Missense |
2/4 |
- |
25 |
16-29825015-GCC-G |
c.648_649del |
p.R217Sfs*7 |
Frameshift |
2/4 |
- |
1 |
16-29825015-GC-G |
c.649del |
p.R217Efs*12 |
Frameshift |
2/4 |
- |
36 |
16-29825015-G-GC |
c.649dup |
p.R217Pfs*8 |
Frameshift |
2/4 |
- |
120 |
16-29825024-C-A |
c.649C>A |
p.R217= |
Synonymous |
2/4 |
- |
1 |
16-29825024-C-G |
c.649C>G |
p.R217G |
Missense |
2/4 |
- |
1 |
16-29825024-CG-AA |
c.649_650delinsAA |
p.R217K |
Missense |
2/4 |
- |
1 |
16-29825024-CG-GC |
c.649_650delinsGC |
p.R217A |
Missense |
2/4 |
- |
2 |
16-29825024-C-T |
c.649C>T |
p.R217* |
Nonsense |
2/4 |
- |
13 |
16-29825026-A-C |
c.651A>C |
p.R217= |
Synonymous |
2/4 |
- |
1 |
16-29825026-A-G |
c.651A>G |
p.R217= |
Synonymous |
2/4 |
- |
1 |
16-29825026-A-T |
c.651A>T |
p.R217= |
Synonymous |
2/4 |
- |
1 |
16-29825025-CGAGTGCTGCAGCAGCTGGTTG-C |
c.650_670del |
p.R217_E224delinsQ |
MultiAAMissense |
2/4 |
- |
1 |
16-29825025-CG-C |
c.650del |
p.R217Qfs*12 |
Frameshift |
2/4 |
- |
4 |
16-29825025-G-A |
c.650G>A |
p.R217Q |
Missense |
2/4 |
- |
3 |
16-29825025-GAGTGCTGCAGCAGCTGGTTG-CAATGGTGCCACCACTGGGTTA |
c.650_670delinsCAATGGTGCCACCACTGGGTTA |
p.R217Pfs*8 |
Frameshift |
2/4 |
- |
1 |
16-29825025-G-C |
c.650G>C |
p.R217P |
Missense |
2/4 |
- |
4 |
16-29825025-G-T |
c.650G>T |
p.R217L |
Missense |
2/4 |
- |
1 |
16-29825029-G-A |
c.654G>A |
p.V218= |
Synonymous |
2/4 |
- |
1 |
16-29825029-G-C |
c.654G>C |
p.V218= |
Synonymous |
2/4 |
- |
1 |
16-29825029-G-T |
c.654G>T |
p.V218= |
Synonymous |
2/4 |
- |
1 |
16-29825031-T-G |
c.656T>G |
p.L219R |
Missense |
2/4 |
- |
1 |
16-29825032-G-A |
c.657G>A |
p.L219= |
Synonymous |
2/4 |
- |
1 |
16-29825034-A-C |
c.659A>C |
p.Q220P |
Missense |
2/4 |
- |
1 |
16-29825034-A-T |
c.659A>T |
p.Q220L |
Missense |
2/4 |
- |
1 |
16-29825036-C-T |
c.661C>T |
p.Q221* |
Nonsense |
2/4 |
- |
1 |
16-29825039-C-G |
c.664C>G |
p.L222V |
Missense |
2/4 |
- |
1 |
16-29825039-CTG-ATC |
c.664_666delinsATC |
p.L222I |
Missense |
2/4 |
- |
1 |
16-29825039-CT-GC |
c.664_665delinsGC |
p.L222A |
Missense |
2/4 |
- |
2 |
16-29825039-CTG-TTT |
c.664_666delinsTTT |
p.L222F |
Missense |
2/4 |
- |
1 |
16-29825040-T-C |
c.665T>C |
p.L222P |
Missense |
2/4 |
- |
1 |
16-29825040-T-G |
c.665T>G |
p.L222R |
Missense |
2/4 |
- |
2 |
16-29825042-G-A |
c.667G>A |
p.V223I |
Missense |
2/4 |
- |
1 |
16-29825044-T-A |
c.669T>A |
p.V223= |
Synonymous |
2/4 |
- |
1 |
16-29825044-T-C |
c.669T>C |
p.V223= |
Synonymous |
2/4 |
- |
1 |
16-29825044-T-G |
c.669T>G |
p.V223= |
Synonymous |
2/4 |
- |
1 |
16-29825046-A-G |
c.671A>G |
p.E224G |
Missense |
2/4 |
- |
1 |
16-29825049-A-C |
c.674A>C |
p.E225A |
Missense |
2/4 |
- |
1 |
16-29825051-GAT-AAG |
c.676_678delinsAAG |
p.D226K |
Missense |
2/4 |
- |
1 |
16-29825054-C-A |
c.679C>A |
p.R227= |
Synonymous |
2/4 |
- |
1 |
16-29825054-CG-GA |
c.679_680delinsGA |
p.R227E |
Missense |
2/4 |
- |
1 |
16-29825054-CG-GC |
c.679_680delinsGC |
p.R227A |
Missense |
2/4 |
- |
1 |
16-29825054-C-T |
c.679C>T |
p.R227* |
Nonsense |
2/4 |
- |
3 |
16-29825056-A-C |
c.681A>C |
p.R227= |
Synonymous |
2/4 |
- |
1 |
16-29825056-A-G |
c.681A>G |
p.R227= |
Synonymous |
2/4 |
- |
1 |
16-29825056-A-T |
c.681A>T |
p.R227= |
Synonymous |
2/4 |
- |
1 |
16-29825055-G-A |
c.680G>A |
p.R227Q |
Missense |
2/4 |
- |
2 |
16-29825060-AG-CA |
c.685_686delinsCA |
p.R229Q |
Missense |
2/4 |
- |
1 |
16-29825060-AG-CT |
c.685_686inv |
p.R229L |
Missense |
2/4 |
- |
1 |
16-29825060-AG-GC |
c.685_686delinsGC |
p.R229A |
Missense |
2/4 |
- |
1 |
16-29825061-G-A |
c.686G>A |
p.R229K |
Missense |
2/4 |
- |
2 |
16-29825060-A-C |
c.685A>C |
p.R229= |
Synonymous |
2/4 |
- |
1 |
16-29825062-A-G |
c.687A>G |
p.R229= |
Synonymous |
2/4 |
- |
1 |
16-29825063-AG-CA |
c.688_689delinsCA |
p.R230Q |
Missense |
2/4 |
- |
1 |
16-29825063-AGG-TGT |
c.688_690delinsTGT |
p.R230C |
Missense |
2/4 |
- |
1 |
16-29825064-G-A |
c.689G>A |
p.R230K |
Missense |
2/4 |
- |
3 |
16-29825066-G-A |
c.691G>A |
p.A231T |
Missense |
2/4 |
- |
1 |
16-29825068-A-AC |
c.694dup |
p.H232Pfs*11 |
Frameshift |
2/4 |
- |
1 |
16-29825069-CA-GC |
c.694_695delinsGC |
p.H232A |
Missense |
2/4 |
- |
1 |
16-29825070-A-G |
c.695A>G |
p.H232R |
Missense |
2/4 |
- |
1 |
16-29825072-AG-GC |
c.697_698delinsGC |
p.S233A |
Missense |
2/4 |
- |
1 |
16-29825072-AGT-TGG |
c.697_699delinsTGG |
p.S233W |
Missense |
2/4 |
- |
1 |
16-29825072-CAG-C |
c.697_698del |
p.S233Wfs*9 |
Frameshift |
2/4 |
- |
2 |
16-29825072-CAGT-C |
c.697_699del |
p.S233del |
InFrameDeletion |
2/4 |
- |
1 |
16-29825073-G-A |
c.698G>A |
p.S233N |
Missense |
2/4 |
- |
2 |
16-29825077-G-A |
c.702G>A |
p.G234= |
Synonymous |
2/4 |
- |
1 |
16-29825082-C-T |
c.707C>T |
p.P236L |
Missense |
2/4 |
- |
1 |
16-29825084-G-A |
c.709G>A |
p.G237R |
Missense |
2/4 |
- |
6 |
16-29825084-G-C |
c.709G>C |
p.G237R |
Missense |
2/4 |
- |
2 |
16-29825085-GA-AC |
c.710_711delinsAC |
p.G237D |
Missense |
2/4 |
- |
1 |
16-29825087-TC-AA |
c.712_713delinsAA |
p.S238N |
Missense |
2/4 |
- |
1 |
16-29825087-TC-GA |
c.712_713inv |
p.S238D |
Missense |
2/4 |
- |
1 |
16-29825087-T-G |
c.712T>G |
p.S238A |
Missense |
2/4 |
- |
2 |
16-29825089-T-A |
c.714T>A |
p.S238= |
Synonymous |
2/4 |
- |
1 |
16-29825089-T-C |
c.714T>C |
p.S238= |
Synonymous |
2/4 |
- |
1 |
16-29825089-T-G |
c.714T>G |
p.S238= |
Synonymous |
2/4 |
- |
1 |
16-29825093-CG-AA |
c.718_719delinsAA |
p.R240K |
Missense |
2/4 |
- |
1 |
16-29825093-CGA-TGG |
c.718_720delinsTGG |
p.R240W |
Missense |
2/4 |
- |
1 |
16-29825093-C-T |
c.718C>T |
p.R240* |
Nonsense |
2/4 |
- |
10 |
16-29825094-G-A |
c.719G>A |
p.R240Q |
Missense |
2/4 |
- |
4 |
16-29825096-G-A |
c.721G>A |
p.G241S |
Missense |
2/4 |
- |
1 |
16-29825099-AG-GA |
c.724_725delinsGA |
p.S242D |
Missense |
2/4 |
- |
1 |
16-29825099-AG-GC |
c.724_725delinsGC |
p.S242A |
Missense |
2/4 |
- |
2 |
16-29825099-A-T |
c.724A>T |
p.S242C |
Missense |
2/4 |
- |
2 |
16-29825100-G-C |
c.725G>C |
p.S242T |
Missense |
2/4 |
- |
2 |
16-29825099-A-C |
c.724A>C |
p.S242R |
Missense |
2/4 |
- |
2 |
16-29825101-C-A |
c.726C>A |
p.S242R |
Missense |
2/4 |
- |
2 |
16-29825101-C-G |
c.726C>G |
p.S242R |
Missense |
2/4 |
- |
2 |
16-29825102-C-G |
c.727C>G |
p.L243V |
Missense |
2/4 |
- |
1 |
16-29825103-T-C |
c.728T>C |
p.L243P |
Missense |
2/4 |
- |
1 |
16-29825105-AG-GC |
c.730_731delinsGC |
p.S244A |
Missense |
2/4 |
- |
3 |
16-29825106-G-C |
c.731G>C |
p.S244T |
Missense |
2/4 |
- |
1 |
16-29825108-C-G |
c.733C>G |
p.R245G |
Missense |
2/4 |
- |
1 |
16-29825109-G-A |
c.734G>A |
p.R245H |
Missense |
2/4 |
- |
9 |
16-29825109-G-T |
c.734G>T |
p.R245L |
Missense |
2/4 |
- |
1 |
16-29825111-C-T |
c.736C>T |
p.H246Y |
Missense |
2/4 |
- |
1 |
16-29825114-CC-AT |
c.739_740delinsAT |
p.P247I |
Missense |
2/4 |
- |
1 |
16-29825114-C-T |
c.739C>T |
p.P247S |
Missense |
2/4 |
- |
1 |
16-29825115-C-T |
c.740C>T |
p.P247L |
Missense |
2/4 |
- |
2 |
16-29825116-C-CA |
c.742dup |
p.S248Kfs*13 |
Frameshift |
2/4 |
- |
1 |
16-29825117-AG-GC |
c.742_743delinsGC |
p.S248A |
Missense |
2/4 |
- |
2 |
16-29825117-AG-TT |
c.742_743delinsTT |
p.S248F |
Missense |
2/4 |
- |
1 |
16-29825117-CA-C |
c.742del |
p.S248Afs*65 |
Frameshift |
2/4 |
- |
1 |
16-29825118-G-A |
c.743G>A |
p.S248N |
Missense |
2/4 |
- |
1 |
16-29825118-G-C |
c.743G>C |
p.S248T |
Missense |
2/4 |
- |
2 |
16-29825118-G-GGAC |
c.743_744insGAC |
p.S248delinsRT |
MultiAAMissense |
2/4 |
- |
1 |
16-29825120-T-C |
c.745T>C |
p.S249P |
Missense |
2/4 |
- |
2 |
16-29825120-TCC-CAA |
c.745_747delinsCAA |
p.S249Q |
Missense |
2/4 |
- |
1 |
16-29825120-T-G |
c.745T>G |
p.S249A |
Missense |
2/4 |
- |
5 |
16-29825119-CTCCCAGT-C |
c.746_752del |
p.S249Wfs*62 |
Frameshift |
2/4 |
- |
1 |
16-29825121-C-G |
c.746C>G |
p.S249C |
Missense |
2/4 |
- |
2 |
16-29825122-C-A |
c.747C>A |
p.S249= |
Synonymous |
2/4 |
- |
1 |
16-29825122-C-G |
c.747C>G |
p.S249= |
Synonymous |
2/4 |
- |
1 |
16-29825122-C-T |
c.747C>T |
p.S249= |
Synonymous |
2/4 |
- |
1 |
16-29825123-C-T |
c.748C>T |
p.Q250* |
Nonsense |
2/4 |
- |
1 |
16-29825126-T-C |
c.751T>C |
p.L251= |
Synonymous |
2/4 |
- |
24 |
16-29825128-G-A |
c.753G>A |
p.L251= |
Synonymous |
2/4 |
- |
2 |
16-29825127-T-G |
c.752T>G |
p.L251W |
Missense |
2/4 |
- |
1 |
16-29825130-C-G |
c.755C>G |
p.A252G |
Missense |
2/4 |
- |
3 |
16-29825132-G-A |
c.757G>A |
p.G253S |
Missense |
2/4 |
- |
1 |
16-29825133-GGTC-G |
c.758_760del |
p.G253_P254delinsA |
MultiAAMissense |
2/4 |
- |
1 |
16-29825136-C-T |
c.761C>T |
p.P254L |
Missense |
2/4 |
- |
2 |
16-29825139-G-A |
c.764G>A |
p.G255E |
Missense |
2/4 |
- |
1 |
16-29825142-T-C |
c.767T>C |
p.V256A |
Missense |
2/4 |
- |
1 |
16-29825145-A-G |
c.770A>G |
p.E257G |
Missense |
2/4 |
- |
1 |
16-29825146-G-C |
c.771G>C |
p.E257D |
Missense |
2/4 |
- |
1 |
16-29825146-G-T |
c.771G>T |
p.E257D |
Missense |
2/4 |
- |
1 |
16-29825147-G-A |
c.772G>A |
p.G258R |
Missense |
2/4 |
- |
2 |
16-29825147-G-C |
c.772G>C |
p.G258R |
Missense |
2/4 |
- |
2 |
16-29825148-G-A |
c.773G>A |
p.G258E |
Missense |
2/4 |
- |
5 |
16-29825149-G-A |
c.774G>A |
p.G258= |
Synonymous |
2/4 |
- |
2 |
16-29825149-G-C |
c.774G>C |
p.G258= |
Synonymous |
2/4 |
- |
1 |
16-29825149-G-T |
c.774G>T |
p.G258= |
Synonymous |
2/4 |
- |
1 |
16-29825150-GG-AC |
c.775_776delinsAC |
p.G259T |
Missense |
2/4 |
- |
1 |
16-29825145-A-AG |
c.776dup |
p.E260* |
Nonsense |
2/4 |
- |
2 |
16-29825145-AG-A |
c.776del |
p.G259Vfs*54 |
Frameshift |
2/4 |
- |
3 |
16-29825153-G-T |
c.778G>T |
p.E260* |
Nonsense |
2/4 |
- |
1 |
16-29825154-A-G |
c.779A>G |
p.E260G |
Missense |
2/4 |
- |
1 |
16-29825156-G-T |
c.781G>T |
p.G261C |
Missense |
2/4 |
- |
1 |
16-29825157-GC-AG |
c.782_783delinsAG |
p.G261E |
Missense |
2/4 |
- |
1 |
16-29825159-ACC-GAG |
c.784_786delinsGAG |
p.T262E |
Missense |
2/4 |
- |
2 |
16-29825159-ACC-TAA |
c.784_786delinsTAA |
p.T262* |
Nonsense |
2/4 |
- |
1 |
16-29825159-AC-GT |
c.784_785inv |
p.T262V |
Missense |
2/4 |
- |
1 |
16-29825159-AC-TG |
c.784_785delinsTG |
p.T262C |
Missense |
2/4 |
- |
1 |
16-29825160-C-T |
c.785C>T |
p.T262I |
Missense |
2/4 |
- |
1 |
16-29825162-C-T |
c.787C>T |
p.Q263* |
Nonsense |
2/4 |
- |
1 |
16-29825165-AA-GC |
c.790_791delinsGC |
p.K264A |
Missense |
2/4 |
- |
1 |
16-29825166-A-G |
c.791A>G |
p.K264R |
Missense |
2/4 |
- |
1 |
16-29825168-C-T |
c.793C>T |
p.P265S |
Missense |
2/4 |
- |
1 |
16-29825169-C-T |
c.794C>T |
p.P265L |
Missense |
2/4 |
- |
1 |
16-29825171-CG-AA |
c.796_797delinsAA |
p.R266K |
Missense |
2/4 |
- |
3 |
16-29825171-CG-GA |
c.796_797delinsGA |
p.R266E |
Missense |
2/4 |
- |
1 |
16-29825171-C-T |
c.796C>T |
p.R266W |
Missense |
2/4 |
- |
9 |
16-29825172-G-A |
c.797G>A |
p.R266Q |
Missense |
2/4 |
- |
4 |
16-29825173-G-A |
c.798G>A |
p.R266= |
Synonymous |
2/4 |
- |
1 |
16-29825175-A-C |
c.800A>C |
p.D267A |
Missense |
2/4 |
- |
1 |
16-29825176-C-A |
c.801C>A |
p.D267E |
Missense |
2/4 |
- |
1 |
16-29825176-C-G |
c.801C>G |
p.D267E |
Missense |
2/4 |
- |
1 |
16-29825177-TA-GC |
c.802_803delinsGC |
p.Y268A |
Missense |
2/4 |
- |
1 |
16-29825177-T-C |
c.802T>C |
p.Y268H |
Missense |
2/4 |
- |
1 |
16-29825178-A-G |
c.803A>G |
p.Y268C |
Missense |
2/4 |
- |
1 |
16-29825179-C-T |
c.804C>T |
p.Y268= |
Synonymous |
2/4 |
- |
1 |
16-29825181-T-A |
c.806T>A |
p.I269N |
Missense |
2/4 |
- |
1 |
16-29825181-T-C |
c.806T>C |
p.I269T |
Missense |
2/4 |
- |
1 |
16-29825186-C-T |
c.811C>T |
p.L271F |
Missense |
2/4 |
- |
1 |
16-29825187-T-G |
c.812T>G |
p.L271R |
Missense |
2/4 |
- |
1 |
16-29825189-G-A |
c.814G>A |
p.A272T |
Missense |
2/4 |
- |
2 |
16-29825190-C-A |
c.815C>A |
p.A272D |
Missense |
2/4 |
- |
1 |
16-29825190-C-T |
c.815C>T |
p.A272V |
Missense |
2/4 |
- |
2 |
16-29825198-TC-GA |
c.823_824inv |
p.S275D |
Missense |
2/4 |
- |
1 |
16-29825198-T-G |
c.823T>G |
p.S275A |
Missense |
2/4 |
- |
1 |
16-29825199-C-T |
c.824C>T |
p.S275F |
Missense |
2/4 |
- |
3 |
16-29825201-T-A |
c.826T>A |
p.C276S |
Missense |
2/4 |
- |
1 |
16-29825202-G-C |
c.827G>C |
p.C276S |
Missense |
2/4 |
- |
1 |
16-29825202-G-A |
c.827G>A |
p.C276Y |
Missense |
2/4 |
- |
1 |
16-29825203-C-T |
c.828C>T |
p.C276= |
Synonymous |
2/4 |
- |
1 |
16-29825207-T-A |
c.832T>A |
p.C278S |
Missense |
2/4 |
- |
1 |
16-29825208-G-C |
c.833G>C |
p.C278S |
Missense |
2/4 |
- |
1 |
16-29825208-G-T |
c.833G>T |
p.C278F |
Missense |
2/4 |
- |
1 |
16-29825210-C-G |
c.835C>G |
p.P279A |
Missense |
2/4 |
- |
1 |
16-29825210-C-T |
c.835C>T |
p.P279S |
Missense |
2/4 |
- |
4 |
16-29825211-C-T |
c.836C>T |
p.P279L |
Missense |
2/4 |
- |
4 |
16-29825216-T-A |
c.841T>A |
p.W281R |
Missense |
2/4 |
- |
4 |
16-29825216-T-C |
c.841T>C |
p.W281R |
Missense |
2/4 |
- |
7 |
16-29825218-G-A |
c.843G>A |
p.W281* |
Nonsense |
2/4 |
- |
1 |
16-29825218-G-T |
c.843G>T |
p.W281C |
Missense |
2/4 |
- |
1 |
16-29825219-C-T |
c.844C>T |
p.P282S |
Missense |
2/4 |
- |
1 |
16-29825220-C-A |
c.845C>A |
p.P282H |
Missense |
2/4 |
- |
2 |
16-29825220-C-T |
c.845C>T |
p.P282L |
Missense |
2/4 |
- |
1 |
16-29825222-G-A |
c.847G>A |
p.V283I |
Missense |
2/4 |
- |
2 |
16-29825222-GTC-TGG |
c.847_849delinsTGG |
p.V283W |
Missense |
2/4 |
- |
1 |
16-29825223-GTCAACATCGTGGCCTT-G |
c.848_863del |
p.V283Afs*25 |
Frameshift |
2/4 |
- |
1 |
16-29825229-T-C |
c.854T>C |
p.I285T |
Missense |
2/4 |
- |
1 |
16-29825230-C-T |
c.855C>T |
p.I285= |
Synonymous |
2/4 |
- |
2 |
16-29825231-G-A |
c.856G>A |
p.V286M |
Missense |
2/4 |
- |
1 |
16-29825231-G-C |
c.856G>C |
p.V286L |
Missense |
2/4 |
- |
2 |
16-29825231-G-T |
c.856G>T |
p.V286L |
Missense |
2/4 |
- |
2 |
16-29825234-G-A |
c.859G>A |
p.A287T |
Missense |
2/4 |
- |
6 |
16-29825234-G-C |
c.859G>C |
p.A287P |
Missense |
2/4 |
- |
1 |
16-29825238-T-TCTAC |
c.864_865insTACC |
p.A289Yfs*53 |
Frameshift |
2/4 |
- |
1 |
16-29825239-C-T |
c.864C>T |
p.F288= |
Synonymous |
2/4 |
- |
3 |
16-29825240-G-A |
c.865G>A |
p.A289T |
Missense |
2/4 |
- |
4 |
16-29825240-G-GCAAGAAAA |
c.866_867insAAGAAAAC |
p.Y290Rfs*26 |
Frameshift |
2/4 |
- |
1 |
16-29825241-C-CT |
c.868dup |
p.Y290Lfs*51 |
Frameshift |
2/4 |
- |
1 |
16-29825243-TA-GG |
c.868_869delinsGG |
p.Y290G |
Missense |
2/4 |
- |
1 |
16-29825244-A-G |
c.869A>G |
p.Y290C |
Missense |
2/4 |
- |
1 |
16-29825244-A-T |
c.869A>T |
p.Y290F |
Missense |
2/4 |
- |
3 |
16-29825246-GCT-TGG |
c.871_873delinsTGG |
p.A291W |
Missense |
2/4 |
- |
1 |
16-29825247-C-A |
c.872C>A |
p.A291D |
Missense |
2/4 |
- |
1 |
16-29825247-C-T |
c.872C>T |
p.A291V |
Missense |
2/4 |
- |
4 |
16-29825248-T-C |
c.873T>C |
p.A291= |
Synonymous |
2/4 |
- |
1 |
16-29825249-G-A |
c.874G>A |
p.V292I |
Missense |
2/4 |
- |
1 |
16-29825249-GTC-ATG |
c.874_876delinsATG |
p.V292M |
Missense |
2/4 |
- |
1 |
16-29825252-A-G |
c.877A>G |
p.M293V |
Missense |
2/4 |
- |
1 |
16-29825252-AT-GC |
c.877_878delinsGC |
p.M293A |
Missense |
2/4 |
- |
1 |
16-29825254-G-A |
c.879G>A |
p.M293I |
Missense |
2/4 |
- |
1 |
16-29825255-G-T |
c.879+1G>T |
- |
IntronicSNV |
- |
2/3 |
4 |
16-29825258-A-G |
c.879+4A>G |
- |
IntronicSNV |
- |
2/3 |
1 |
16-29825259-G-A |
c.879+5G>A |
- |
IntronicSNV |
- |
2/3 |
3 |
16-29825260-C-A |
c.879+6C>A |
- |
IntronicSNV |
- |
2/3 |
2 |
16-29825265-T-A |
c.879+11T>A |
- |
IntronicSNV |
- |
2/3 |
1 |
16-29825274-A-G |
c.879+20A>G |
- |
IntronicSNV |
- |
2/3 |
1 |
16-29825302-C-T |
c.879+48C>T |
- |
IntronicSNV |
- |
2/3 |
1 |
16-29825305-G-A |
c.879+51G>A |
- |
IntronicSNV |
- |
2/3 |
1 |
16-29825332-T-G |
c.879+78T>G |
- |
IntronicSNV |
- |
2/3 |
1 |
16-29825341-C-CT |
c.879+89dup |
- |
IntronicInsertion |
- |
2/3 |
1 |
16-29825404-C-T |
c.879+150C>T |
- |
IntronicSNV |
- |
2/3 |
1 |
16-29825641-G-A |
c.880-13G>A |
- |
IntronicSNV |
- |
2/3 |
1 |
16-29825641-G-C |
c.880-13G>C |
- |
IntronicSNV |
- |
2/3 |
1 |
16-29825654-T-C |
c.880T>C |
p.S294P |
Missense |
3/4 |
- |
1 |
16-29825654-TC-CT |
c.880_881delinsCT |
p.S294L |
Missense |
3/4 |
- |
1 |
16-29825654-T-G |
c.880T>G |
p.S294A |
Missense |
3/4 |
- |
4 |
16-29825655-C-T |
c.881C>T |
p.S294F |
Missense |
3/4 |
- |
1 |
16-29825657-CG-GC |
c.883_884delinsGC |
p.R295A |
Missense |
3/4 |
- |
1 |
16-29825657-C-T |
c.883C>T |
p.R295W |
Missense |
3/4 |
- |
1 |
16-29825658-G-A |
c.884G>A |
p.R295Q |
Missense |
3/4 |
- |
4 |
16-29825658-GG-AT |
c.884_885delinsAT |
p.R295H |
Missense |
3/4 |
- |
1 |
16-29825660-AA-GC |
c.886_887delinsGC |
p.N296A |
Missense |
3/4 |
- |
1 |
16-29825660-A-C |
c.886A>C |
p.N296H |
Missense |
3/4 |
- |
3 |
16-29825662-C-T |
c.888C>T |
p.N296= |
Synonymous |
3/4 |
- |
3 |
16-29825663-AG-CC |
c.889_890delinsCC |
p.S297P |
Missense |
3/4 |
- |
1 |
16-29825663-AGC-TGA |
c.889_891delinsTGA |
p.S297* |
Nonsense |
3/4 |
- |
1 |
16-29825663-AG-GA |
c.889_890delinsGA |
p.S297D |
Missense |
3/4 |
- |
1 |
16-29825663-AG-GC |
c.889_890delinsGC |
p.S297A |
Missense |
3/4 |
- |
4 |
16-29825665-C-G |
c.891C>G |
p.S297R |
Missense |
3/4 |
- |
1 |
16-29825666-C-A |
c.892C>A |
p.L298M |
Missense |
3/4 |
- |
1 |
16-29825667-T-A |
c.893T>A |
p.L298Q |
Missense |
3/4 |
- |
1 |
16-29825667-T-C |
c.893T>C |
p.L298P |
Missense |
3/4 |
- |
1 |
16-29825669-C-A |
c.895C>A |
p.Q299K |
Missense |
3/4 |
- |
1 |
16-29825669-C-T |
c.895C>T |
p.Q299* |
Nonsense |
3/4 |
- |
1 |
16-29825671-G-A |
c.897G>A |
p.Q299= |
Synonymous |
3/4 |
- |
4 |
16-29825673-A-AG |
c.904dup |
p.D302Gfs*39 |
Frameshift |
3/4 |
- |
2 |
16-29825678-G-A |
c.904G>A |
p.D302N |
Missense |
3/4 |
- |
2 |
16-29825678-G-C |
c.904G>C |
p.D302H |
Missense |
3/4 |
- |
1 |
16-29825678-G-T |
c.904G>T |
p.D302Y |
Missense |
3/4 |
- |
1 |
16-29825679-A-G |
c.905A>G |
p.D302G |
Missense |
3/4 |
- |
1 |
16-29825679-GAC-G |
c.905_906del |
p.D302Gfs*38 |
Frameshift |
3/4 |
- |
1 |
16-29825681-G-A |
c.907G>A |
p.V303M |
Missense |
3/4 |
- |
3 |
16-29825683-G-T |
c.909G>T |
p.V303= |
Synonymous |
3/4 |
- |
1 |
16-29825684-G-A |
c.910G>A |
p.D304N |
Missense |
3/4 |
- |
3 |
16-29825686-C-A |
c.912C>A |
p.D304E |
Missense |
3/4 |
- |
3 |
16-29825686-C-G |
c.912C>G |
p.D304E |
Missense |
3/4 |
- |
1 |
16-29825686-C-T |
c.912C>T |
p.D304= |
Synonymous |
3/4 |
- |
2 |
16-29825687-G-A |
c.913G>A |
p.G305R |
Missense |
3/4 |
- |
12 |
16-29825687-G-C |
c.913G>C |
p.G305R |
Missense |
3/4 |
- |
3 |
16-29825687-G-T |
c.913G>T |
p.G305W |
Missense |
3/4 |
- |
7 |
16-29825688-G-A |
c.914G>A |
p.G305E |
Missense |
3/4 |
- |
1 |
16-29825688-G-C |
c.914G>C |
p.G305A |
Missense |
3/4 |
- |
1 |
16-29825688-GGGCCCAGCGTCTGGGCC-AGACGCT |
c.914_931delinsAGACGCT |
p.G305Efs*32 |
Frameshift |
3/4 |
- |
1 |
16-29825685-ACGGGGCCCAGCGTCTGGGC-A |
c.916_934del |
p.A306* |
Frameshift |
3/4 |
- |
1 |
16-29825690-G-A |
c.916G>A |
p.A306T |
Missense |
3/4 |
- |
5 |
16-29825690-G-C |
c.916G>C |
p.A306P |
Missense |
3/4 |
- |
3 |
16-29825690-GCC-TGG |
c.916_918delinsTGG |
p.A306W |
Missense |
3/4 |
- |
1 |
16-29825690-G-T |
c.916G>T |
p.A306S |
Missense |
3/4 |
- |
1 |
16-29825691-C-A |
c.917C>A |
p.A306D |
Missense |
3/4 |
- |
1 |
16-29825691-C-T |
c.917C>T |
p.A306V |
Missense |
3/4 |
- |
1 |
16-29825693-C-T |
c.919C>T |
p.Q307* |
Nonsense |
3/4 |
- |
1 |
16-29825694-A-C |
c.920A>C |
p.Q307P |
Missense |
3/4 |
- |
1 |
16-29825695-G-C |
c.921G>C |
p.Q307H |
Missense |
3/4 |
- |
1 |
16-29825696-C-G |
c.922C>G |
p.R308G |
Missense |
3/4 |
- |
3 |
16-29825696-CG-GC |
c.922_923delinsGC |
p.R308A |
Missense |
3/4 |
- |
1 |
16-29825696-CGT-ATG |
c.922_924delinsATG |
p.R308M |
Missense |
3/4 |
- |
1 |
16-29825696-C-T |
c.922C>T |
p.R308C |
Missense |
3/4 |
- |
9 |
16-29825697-G-A |
c.923G>A |
p.R308H |
Missense |
3/4 |
- |
5 |
16-29825697-G-C |
c.923G>C |
p.R308P |
Missense |
3/4 |
- |
1 |
16-29825698-GT-G |
c.924del |
p.L309Wfs*4 |
Frameshift |
3/4 |
- |
1 |
16-29825699-CT-GC |
c.925_926delinsGC |
p.L309A |
Missense |
3/4 |
- |
1 |
16-29825700-T-C |
c.926T>C |
p.L309P |
Missense |
3/4 |
- |
1 |
16-29825705-CG-GA |
c.931_932delinsGA |
p.R311E |
Missense |
3/4 |
- |
1 |
16-29825705-CG-GC |
c.931_932delinsGC |
p.R311A |
Missense |
3/4 |
- |
1 |
16-29825705-C-T |
c.931C>T |
p.R311W |
Missense |
3/4 |
- |
3 |
16-29825706-G-A |
c.932G>A |
p.R311Q |
Missense |
3/4 |
- |
2 |
16-29825706-G-C |
c.932G>C |
p.R311P |
Missense |
3/4 |
- |
2 |
16-29825706-G-T |
c.932G>T |
p.R311L |
Missense |
3/4 |
- |
1 |
16-29825710-A-T |
c.936A>T |
p.V312= |
Synonymous |
3/4 |
- |
1 |
16-29825711-G-A |
c.937G>A |
p.A313T |
Missense |
3/4 |
- |
1 |
16-29825711-G-T |
c.937G>T |
p.A313S |
Missense |
3/4 |
- |
2 |
16-29825712-C-A |
c.938C>A |
p.A313D |
Missense |
3/4 |
- |
1 |
16-29825712-C-G |
c.938C>G |
p.A313G |
Missense |
3/4 |
- |
1 |
16-29825713-C-A |
c.939C>A |
p.A313= |
Synonymous |
3/4 |
- |
1 |
16-29825717-C-T |
c.943C>T |
p.L315F |
Missense |
3/4 |
- |
1 |
16-29825717-CT-GC |
c.943_944delinsGC |
p.L315A |
Missense |
3/4 |
- |
1 |
16-29825719-C-G |
c.945C>G |
p.L315= |
Synonymous |
3/4 |
- |
1 |
16-29825720-TT-GC |
c.946_947delinsGC |
p.L316A |
Missense |
3/4 |
- |
2 |
16-29825719-CT-C |
c.947del |
p.L316* |
Frameshift |
3/4 |
- |
1 |
16-29825723-AG-GA |
c.949_950delinsGA |
p.S317D |
Missense |
3/4 |
- |
1 |
16-29825723-AG-GC |
c.949_950delinsGC |
p.S317A |
Missense |
3/4 |
- |
1 |
16-29825724-G-A |
c.950G>A |
p.S317N |
Missense |
3/4 |
- |
9 |
16-29825726-A-C |
c.952A>C |
p.I318L |
Missense |
3/4 |
- |
1 |
16-29825726-ATC-GAG |
c.952_954delinsGAG |
p.I318E |
Missense |
3/4 |
- |
1 |
16-29825728-C-G |
c.954C>G |
p.I318M |
Missense |
3/4 |
- |
1 |
16-29825729-G-T |
c.955G>T |
p.V319L |
Missense |
3/4 |
- |
1 |
16-29825732-G-A |
c.958G>A |
p.A320T |
Missense |
3/4 |
- |
1 |
16-29825732-GC-AG |
c.958_959delinsAG |
p.A320R |
Missense |
3/4 |
- |
1 |
16-29825732-G-T |
c.958G>T |
p.A320S |
Missense |
3/4 |
- |
1 |
16-29825733-C-T |
c.959C>T |
p.A320V |
Missense |
3/4 |
- |
3 |
16-29825734-G-A |
c.960G>A |
p.A320= |
Synonymous |
3/4 |
- |
1 |
16-29825735-C-T |
c.961C>T |
p.L321= |
Synonymous |
3/4 |
- |
3 |
16-29825735-CTG-GAC |
c.961_963delinsGAC |
p.L321D |
Missense |
3/4 |
- |
1 |
16-29825736-TG-T |
c.964del |
p.V322Wfs*15 |
Frameshift |
3/4 |
- |
3 |
16-29825738-GTG-ATC |
c.964_966delinsATC |
p.V322I |
Missense |
3/4 |
- |
1 |
16-29825740-G-A |
c.966G>A |
p.V322= |
Synonymous |
3/4 |
- |
1 |
16-29825740-G-T |
c.966G>T |
p.V322= |
Synonymous |
3/4 |
- |
1 |
16-29825741-G-A |
c.967G>A |
p.G323R |
Missense |
3/4 |
- |
2 |
16-29825741-G-T |
c.967G>T |
p.G323W |
Missense |
3/4 |
- |
3 |
16-29825742-G-A |
c.968G>A |
p.G323E |
Missense |
3/4 |
- |
3 |
16-29825742-G-C |
c.968G>C |
p.G323A |
Missense |
3/4 |
- |
2 |
16-29825744-G-A |
c.970G>A |
p.G324R |
Missense |
3/4 |
- |
2 |
16-29825739-TG-T |
c.971del |
p.G324Efs*13 |
Frameshift |
3/4 |
- |
5 |
16-29825739-T-TG |
c.971dup |
p.V325Sfs*16 |
Frameshift |
3/4 |
- |
2 |
16-29825743-GGGA-G |
c.971_973del |
p.G324del |
InFrameDeletion |
3/4 |
- |
1 |
16-29825745-G-A |
c.971G>A |
p.G324E |
Missense |
3/4 |
- |
4 |
16-29825745-GA-AC |
c.971_972delinsAC |
p.G324D |
Missense |
3/4 |
- |
2 |
16-29825745-G-C |
c.971G>C |
p.G324A |
Missense |
3/4 |
- |
2 |
16-29825745-G-GA |
c.972dup |
p.V325Sfs*16 |
Frameshift |
3/4 |
- |
1 |
16-29825746-A-G |
c.972A>G |
p.G324= |
Synonymous |
3/4 |
- |
1 |
16-29825746-GA-G |
c.972del |
p.V325Sfs*12 |
Frameshift |
3/4 |
- |
2 |
16-29825746-GAGTC-G |
c.972_975del |
p.V325Sfs*11 |
Frameshift |
3/4 |
- |
1 |
16-29825748-T-C |
c.974T>C |
p.V325A |
Missense |
3/4 |
- |
1 |
16-29825747-GTCC-G |
c.976_978del |
p.L326del |
InFrameDeletion |
3/4 |
- |
1 |
16-29825750-C-A |
c.976C>A |
p.L326I |
Missense |
3/4 |
- |
1 |
16-29825751-T-A |
c.977T>A |
p.L326H |
Missense |
3/4 |
- |
1 |
16-29825753-A-C |
c.979A>C |
p.I327L |
Missense |
3/4 |
- |
2 |
16-29825755-C-A |
c.981C>A |
p.I327= |
Synonymous |
3/4 |
- |
1 |
16-29825755-C-G |
c.981C>G |
p.I327M |
Missense |
3/4 |
- |
5 |
16-29825750-CTCA-C |
c.985_987del |
p.I329del |
InFrameDeletion |
3/4 |
- |
1 |
16-29825759-A-G |
c.985A>G |
p.I329V |
Missense |
3/4 |
- |
1 |
16-29825760-T-A |
c.986T>A |
p.I329N |
Missense |
3/4 |
- |
1 |
16-29825760-T-C |
c.986T>C |
p.I329T |
Missense |
3/4 |
- |
1 |
16-29825761-C-A |
c.987C>A |
p.I329= |
Synonymous |
3/4 |
- |
2 |
16-29825761-C-T |
c.987C>T |
p.I329= |
Synonymous |
3/4 |
- |
1 |
16-29825762-G-A |
c.988G>A |
p.A330T |
Missense |
3/4 |
- |
4 |
16-29825764-C-A |
c.990C>A |
p.A330= |
Synonymous |
3/4 |
- |
2 |
16-29825764-C-T |
c.990C>T |
p.A330= |
Synonymous |
3/4 |
- |
1 |
16-29825765-T-A |
c.991T>A |
p.S331T |
Missense |
3/4 |
- |
1 |
16-29825765-T-G |
c.991T>G |
p.S331A |
Missense |
3/4 |
- |
5 |
16-29825766-C-T |
c.992C>T |
p.S331F |
Missense |
3/4 |
- |
4 |
16-29825768-T-A |
c.994T>A |
p.C332S |
Missense |
3/4 |
- |
1 |
16-29825768-TG-GC |
c.994_995delinsGC |
p.C332A |
Missense |
3/4 |
- |
1 |
16-29825769-G-C |
c.995G>C |
p.C332S |
Missense |
3/4 |
- |
1 |
16-29825770-C-T |
c.996C>T |
p.C332= |
Synonymous |
3/4 |
- |
2 |
16-29825771-G-A |
c.997G>A |
p.V333I |
Missense |
3/4 |
- |
2 |
16-29825778-A-G |
c.1004A>G |
p.N335S |
Missense |
3/4 |
- |
2 |
16-29825783-G-A |
c.1009G>A |
p.G337S |
Missense |
3/4 |
- |
1 |
16-29825783-G-C |
c.1009G>C |
p.G337R |
Missense |
3/4 |
- |
1 |
16-29825784-G-A |
c.1010G>A |
p.G337D |
Missense |
3/4 |
- |
1 |
16-29825783-GGC-G |
c.1011_1012del |
p.Y339* |
SpliceDonorDeletion |
3/4 |
- |
1 |
16-29825785-C-A |
c.1011C>A |
p.G337= |
Synonymous |
3/4 |
- |
1 |
16-29825785-C-G |
c.1011C>G |
p.G337= |
Synonymous |
3/4 |
- |
1 |
16-29825785-C-T |
c.1011C>T |
p.G337= |
Synonymous |
3/4 |
- |
7 |
16-29825786-G-A |
c.1012G>A |
p.V338M |
Missense |
3/4 |
- |
1 |
16-29825786-G-T |
c.1012G>T |
p.V338L |
Missense |
3/4 |
- |
2 |
16-29825787-G-GT |
c.1012+2dup |
- |
IntronicInsertion |
- |
3/3 |
1 |
16-29825805-C-T |
c.1012+19C>T |
- |
IntronicSNV |
- |
3/3 |
1 |
16-29825815-A-G |
c.1012+29A>G |
- |
IntronicSNV |
- |
3/3 |
1 |
16-29825843-TTTACTA-T |
c.1012+57_1012+62del |
- |
IntronicDeletion |
- |
3/3 |
1 |
16-29825888-C-T |
c.1013-61C>T |
- |
IntronicSNV |
- |
3/3 |
1 |
16-29825933-C-T |
c.1013-16C>T |
- |
IntronicSNV |
- |
3/3 |
1 |
16-29825949-T-C |
c.1013T>C |
p.V338A |
Missense |
4/4 |
- |
2 |
16-29825949-TG-AC |
c.1013_1014delinsAC |
p.V338D |
Missense |
4/4 |
- |
1 |
16-29825952-A-T |
c.1016A>T |
p.Y339F |
Missense |
4/4 |
- |
1 |
16-29825957-T-C |
c.1021T>C |
p.*341Rext*28 |
Missense |
4/4 |
- |
1 |
16-29825972-C-G |
c.*13C>G |
- |
3-UTRSNV |
4/4 |
- |
1 |
16-29825972-C-T |
c.*13C>T |
- |
3-UTRSNV |
4/4 |
- |
1 |
16-29826014-C-A |
c.*55C>A |
- |
3-UTRSNV |
4/4 |
- |
1 |
16-29826365-G-A |
c.*406G>A |
- |
3-UTRSNV |
4/4 |
- |
3 |
16-29826365-G-T |
c.*406G>T |
- |
3-UTRSNV |
4/4 |
- |
3 |
16-29826538-T-A |
c.*579T>A |
- |
3-UTRSNV |
4/4 |
- |
11 |
16-29826538-T-C |
c.*579T>C |
- |
3-UTRSNV |
4/4 |
- |
11 |
16-29826538-T-G |
c.*579T>G |
- |
3-UTRSNV |
4/4 |
- |
11 |
16-29827021-G-A |
c.*1062G>A |
- |
3-UTRSNV |
4/4 |
- |
1 |
16-29827021-G-C |
c.*1062G>C |
- |
3-UTRSNV |
4/4 |
- |
1 |
16-29827021-G-T |
c.*1062G>T |
- |
3-UTRSNV |
4/4 |
- |
1 |