X-37639331-A-G |
c.1A>G |
p.M1? |
Missense |
1/13 |
- |
3 |
X-37639331-CATGGGGAACTGGGCTGTGAATGAGGGGCTCTCCATTTTTGTCATT-C |
c.1_45del |
p.MGNWAVNEGLSIFVI1_?15 |
InFrameDeletion |
1/13 |
- |
1 |
X-37639332-T-A |
c.2T>A |
p.M1? |
Missense |
1/13 |
- |
2 |
X-37639332-T-G |
c.2T>G |
p.M1? |
Missense |
1/13 |
- |
2 |
X-37639333-G-A |
c.3G>A |
p.M1? |
Missense |
1/13 |
- |
3 |
X-37639333-G-C |
c.3G>C |
p.M1? |
Missense |
1/13 |
- |
1 |
X-37639333-G-T |
c.3G>T |
p.M1? |
Missense |
1/13 |
- |
1 |
X-37639332-T-TG |
c.6dup |
p.N3Efs*6 |
Frameshift |
1/13 |
- |
1 |
X-37639336-G-A |
c.6G>A |
p.G2= |
Synonymous |
1/13 |
- |
1 |
X-37639336-G-GA |
c.8dup |
p.N3Kfs*6 |
Frameshift |
1/13 |
- |
1 |
X-37639338-A-G |
c.8A>G |
p.N3S |
Missense |
1/13 |
- |
2 |
X-37639341-G-A |
c.11G>A |
p.W4* |
Nonsense |
1/13 |
- |
2 |
X-37639342-G-A |
c.12G>A |
p.W4* |
Nonsense |
1/13 |
- |
2 |
X-37639342-G-C |
c.12G>C |
p.W4C |
Missense |
1/13 |
- |
2 |
X-37639344-C-T |
c.14C>T |
p.A5V |
Missense |
1/13 |
- |
1 |
X-37639345-CT-C |
c.15del |
p.V6* |
Frameshift |
1/13 |
- |
1 |
X-37639345-T-TTAA |
c.15_16insTAA |
p.A5_V6ins* |
InFrameInsertion |
1/13 |
- |
1 |
X-37639348-G-A |
c.18G>A |
p.V6= |
Synonymous |
1/13 |
- |
1 |
X-37639348-G-C |
c.18G>C |
p.V6= |
Synonymous |
1/13 |
- |
1 |
X-37639348-G-T |
c.18G>T |
p.V6= |
Synonymous |
1/13 |
- |
1 |
X-37639352-G-T |
c.22G>T |
p.E8* |
Nonsense |
1/13 |
- |
1 |
X-37639355-G-A |
c.25G>A |
p.G9R |
Missense |
1/13 |
- |
1 |
X-37639355-G-C |
c.25G>C |
p.G9R |
Missense |
1/13 |
- |
1 |
X-37639356-G-A |
c.26G>A |
p.G9E |
Missense |
1/13 |
- |
1 |
X-37639353-A-AG |
c.27dup |
p.L10Afs*25 |
Frameshift |
1/13 |
- |
1 |
X-37639353-AG-A |
c.27del |
p.L10Sfs*12 |
Frameshift |
1/13 |
- |
1 |
X-37639357-G-A |
c.27G>A |
p.G9= |
Synonymous |
1/13 |
- |
1 |
X-37639361-TC-CA |
c.31_32delinsCA |
p.S11H |
Missense |
1/13 |
- |
1 |
X-37639361-TCC-GAG |
c.31_33delinsGAG |
p.S11E |
Missense |
1/13 |
- |
4 |
X-37639361-TC-GA |
c.31_32inv |
p.S11D |
Missense |
1/13 |
- |
4 |
X-37639361-TC-GG |
c.31_32delinsGG |
p.S11G |
Missense |
1/13 |
- |
1 |
X-37639361-T-G |
c.31T>G |
p.S11A |
Missense |
1/13 |
- |
13 |
X-37639362-C-G |
c.32C>G |
p.S11C |
Missense |
1/13 |
- |
6 |
X-37639362-C-T |
c.32C>T |
p.S11F |
Missense |
1/13 |
- |
1 |
X-37639365-TTTTTGTCATTG-T |
c.37_45+2del |
- |
SpliceDonorDeletion |
1/13 |
1/12 |
1 |
X-37639367-TT-GC |
c.37_38delinsGC |
p.F13A |
Missense |
1/13 |
- |
1 |
X-37639368-T-C |
c.38T>C |
p.F13S |
Missense |
1/13 |
- |
1 |
X-37639364-AT-A |
c.39del |
p.F13Lfs*9 |
Frameshift |
1/13 |
- |
1 |
X-37639369-T-TG |
c.40dup |
p.V14Gfs*21 |
Frameshift |
1/13 |
- |
1 |
X-37639370-G-A |
c.40G>A |
p.V14I |
Missense |
1/13 |
- |
1 |
X-37639370-TG-T |
c.40del |
p.V14Sfs*8 |
Frameshift |
1/13 |
- |
1 |
X-37639376-G-A |
c.45+1G>A |
- |
IntronicSNV |
- |
1/12 |
3 |
X-37639376-G-C |
c.45+1G>C |
- |
IntronicSNV |
- |
1/12 |
4 |
X-37639376-G-T |
c.45+1G>T |
- |
IntronicSNV |
- |
1/12 |
1 |
X-37639376-TG-T |
c.45+1del |
- |
IntronicDeletion |
- |
1/12 |
1 |
X-37639377-GT-G |
c.45+2del |
- |
IntronicDeletion |
- |
1/12 |
3 |
X-37639379-A-G |
c.45+4A>G |
- |
IntronicSNV |
- |
1/12 |
1 |
X-37639380-G-A |
c.45+5G>A |
- |
IntronicSNV |
- |
1/12 |
1 |
X-37639381-T-C |
c.45+6T>C |
- |
IntronicSNV |
- |
1/12 |
1 |
X-37641341-CTG-TTT |
c.46_48delinsTTT |
p.L16F |
Missense |
2/13 |
- |
1 |
X-37641341-GCTGGTTTGGCTGGGGTTGAACGTCTTCCTCTTTGTCTGGTATTACCGGGTTTATGATAT-G |
c.46_104del |
p.L16Sfs*3 |
InFrameDeletion |
2/13 |
- |
2 |
X-37641342-CT-C |
c.47del |
p.L16Rfs*6 |
Frameshift |
2/13 |
- |
1 |
X-37641342-TG-T |
c.49del |
p.V17Ffs*5 |
Frameshift |
2/13 |
- |
1 |
X-37641346-T-A |
c.51T>A |
p.V17= |
Synonymous |
2/13 |
- |
1 |
X-37641346-T-C |
c.51T>C |
p.V17= |
Synonymous |
2/13 |
- |
1 |
X-37641346-T-G |
c.51T>G |
p.V17= |
Synonymous |
2/13 |
- |
1 |
X-37641344-G-GT |
c.52dup |
p.W18Lfs*17 |
Frameshift |
2/13 |
- |
1 |
X-37641344-GT-G |
c.52del |
p.W18Gfs*4 |
Frameshift |
2/13 |
- |
1 |
X-37641348-G-A |
c.53G>A |
p.W18* |
Nonsense |
2/13 |
- |
3 |
X-37641349-G-C |
c.54G>C |
p.W18C |
Missense |
2/13 |
- |
6 |
X-37641349-G-T |
c.54G>T |
p.W18C |
Missense |
2/13 |
- |
5 |
X-37641350-C-G |
c.55C>G |
p.L19V |
Missense |
2/13 |
- |
2 |
X-37641353-G-A |
c.58G>A |
p.G20R |
Missense |
2/13 |
- |
6 |
X-37641353-G-C |
c.58G>C |
p.G20R |
Missense |
2/13 |
- |
5 |
X-37641354-G-A |
c.59G>A |
p.G20E |
Missense |
2/13 |
- |
1 |
X-37641354-GG-AC |
c.59_60delinsAC |
p.G20D |
Missense |
2/13 |
- |
1 |
X-37641354-G-T |
c.59G>T |
p.G20V |
Missense |
2/13 |
- |
1 |
X-37641356-T-C |
c.61T>C |
p.L21= |
Synonymous |
2/13 |
- |
1 |
X-37641358-G-A |
c.63G>A |
p.L21= |
Synonymous |
2/13 |
- |
2 |
X-37641360-A-T |
c.65A>T |
p.N22I |
Missense |
2/13 |
- |
1 |
X-37641361-C-A |
c.66C>A |
p.N22K |
Missense |
2/13 |
- |
1 |
X-37641361-CGTCT-A |
c.66_70delinsA |
p.N22Kfs*38 |
Frameshift |
2/13 |
- |
1 |
X-37641362-GTCT-G |
c.70_72del |
p.F24del |
InFrameDeletion |
2/13 |
- |
2 |
X-37641365-TT-CA |
c.70_71delinsCA |
p.F24H |
Missense |
2/13 |
- |
1 |
X-37641368-C-A |
c.73C>A |
p.L25I |
Missense |
2/13 |
- |
2 |
X-37641370-CTT-C |
c.77_78del |
p.F26Cfs*8 |
Frameshift |
2/13 |
- |
2 |
X-37641372-TTTGTCTG-T |
c.77_83del |
p.F26Cfs*33 |
Frameshift |
2/13 |
- |
1 |
X-37641370-CT-C |
c.78del |
p.F26Lfs*35 |
Frameshift |
2/13 |
- |
1 |
X-37641374-G-C |
c.79G>C |
p.V27L |
Missense |
2/13 |
- |
1 |
X-37641374-G-T |
c.79G>T |
p.V27F |
Missense |
2/13 |
- |
1 |
X-37641372-TTGTC-T |
c.80_83del |
p.V27Gfs*33 |
Frameshift |
2/13 |
- |
1 |
X-37641378-G-A |
c.83G>A |
p.W28* |
Nonsense |
2/13 |
- |
1 |
X-37641379-G-A |
c.84G>A |
p.W28* |
Nonsense |
2/13 |
- |
3 |
X-37641380-GT-G |
c.85del |
p.Y29Ifs*32 |
Frameshift |
2/13 |
- |
1 |
X-37641385-C-A |
c.90C>A |
p.Y30* |
Nonsense |
2/13 |
- |
4 |
X-37641385-C-G |
c.90C>G |
p.Y30* |
Nonsense |
2/13 |
- |
2 |
X-37641385-C-T |
c.90C>T |
p.Y30= |
Synonymous |
2/13 |
- |
1 |
X-37641386-CCG-C |
c.91_92del |
p.R31Gfs*3 |
Frameshift |
2/13 |
- |
1 |
X-37641386-CG-GT |
c.91_92delinsGT |
p.R31V |
Missense |
2/13 |
- |
1 |
X-37641386-C-T |
c.91C>T |
p.R31W |
Missense |
2/13 |
- |
2 |
X-37641387-G-A |
c.92G>A |
p.R31Q |
Missense |
2/13 |
- |
1 |
X-37641387-G-GC |
c.92_93insC |
p.V32Gfs*3 |
Frameshift |
2/13 |
- |
1 |
X-37641386-CG-C |
c.94del |
p.V32Ffs*29 |
Frameshift |
2/13 |
- |
1 |
X-37641389-G-A |
c.94G>A |
p.V32I |
Missense |
2/13 |
- |
1 |
X-37641393-A-T |
c.98A>T |
p.Y33F |
Missense |
2/13 |
- |
1 |
X-37641394-T-A |
c.99T>A |
p.Y33* |
Nonsense |
2/13 |
- |
2 |
X-37641395-G-A |
c.100G>A |
p.D34N |
Missense |
2/13 |
- |
4 |
X-37641396-A-C |
c.101A>C |
p.D34A |
Missense |
2/13 |
- |
1 |
X-37641398-A-G |
c.103A>G |
p.I35V |
Missense |
2/13 |
- |
1 |
X-37641399-T-G |
c.104T>G |
p.I35S |
Missense |
2/13 |
- |
1 |
X-37641398-AT-A |
c.105del |
p.P36Hfs*25 |
Frameshift |
2/13 |
- |
1 |
X-37641402-C-T |
c.107C>T |
p.P36L |
Missense |
2/13 |
- |
2 |
X-37641407-AA-GC |
c.112_113delinsGC |
p.K38A |
Missense |
2/13 |
- |
2 |
X-37641407-A-T |
c.112A>T |
p.K38* |
Nonsense |
2/13 |
- |
1 |
X-37641409-G-A |
c.114G>A |
p.K38= |
Synonymous |
2/13 |
- |
2 |
X-37641410-T-C |
c.115T>C |
p.F39L |
Missense |
2/13 |
- |
3 |
X-37641412-C-A |
c.117C>A |
p.F39L |
Missense |
2/13 |
- |
3 |
X-37641412-C-G |
c.117C>G |
p.F39L |
Missense |
2/13 |
- |
3 |
X-37641412-C-T |
c.117C>T |
p.F39= |
Synonymous |
2/13 |
- |
1 |
X-37641413-T-C |
c.118T>C |
p.F40L |
Missense |
2/13 |
- |
1 |
X-37641415-T-A |
c.120T>A |
p.F40L |
Missense |
2/13 |
- |
1 |
X-37641415-T-G |
c.120T>G |
p.F40L |
Missense |
2/13 |
- |
1 |
X-37641412-C-CT |
c.121dup |
p.Y41Lfs*62 |
Frameshift |
2/13 |
- |
1 |
X-37641412-CT-C |
c.121del |
p.Y41Tfs*20 |
Frameshift |
2/13 |
- |
1 |
X-37641416-TA-GC |
c.121_122delinsGC |
p.Y41A |
Missense |
2/13 |
- |
1 |
X-37641416-T-G |
c.121T>G |
p.Y41D |
Missense |
2/13 |
- |
6 |
X-37641418-C-G |
c.123C>G |
p.Y41* |
Nonsense |
2/13 |
- |
2 |
X-37641419-A-G |
c.124A>G |
p.T42A |
Missense |
2/13 |
- |
1 |
X-37641420-C-G |
c.125C>G |
p.T42R |
Missense |
2/13 |
- |
3 |
X-37641421-AAGAA-TTTC |
c.126_130delinsTTTC |
p.R43Ffs*18 |
Frameshift |
2/13 |
- |
1 |
X-37641422-AG-CA |
c.127_128delinsCA |
p.R43Q |
Missense |
2/13 |
- |
2 |
X-37641422-A-T |
c.127A>T |
p.R43* |
Nonsense |
2/13 |
- |
1 |
X-37641423-G-C |
c.128G>C |
p.R43T |
Missense |
2/13 |
- |
1 |
X-37641425-AA-GC |
c.130_131delinsGC |
p.K44A |
Missense |
2/13 |
- |
2 |
X-37641428-C-A |
c.133C>A |
p.L45I |
Missense |
2/13 |
- |
1 |
X-37641429-T-C |
c.134T>C |
p.L45P |
Missense |
2/13 |
- |
1 |
X-37641429-T-G |
c.134T>G |
p.L45R |
Missense |
2/13 |
- |
5 |
X-37641431-C-A |
c.136C>A |
p.L46I |
Missense |
2/13 |
- |
1 |
X-37641431-C-T |
c.136C>T |
p.L46F |
Missense |
2/13 |
- |
4 |
X-37641432-T-G |
c.137T>G |
p.L46R |
Missense |
2/13 |
- |
1 |
X-37641434-G-A |
c.139G>A |
p.G47R |
Missense |
2/13 |
- |
1 |
X-37641433-TG-T |
c.141+1del |
- |
IntronicDeletion |
- |
2/12 |
1 |
X-37641437-G-A |
c.141+1G>A |
- |
IntronicSNV |
- |
2/12 |
1 |
X-37641437-GGT-G |
c.141+1_141+2del |
- |
SpliceDonorDeletion |
- |
2/12 |
2 |
X-37641437-G-T |
c.141+1G>T |
- |
IntronicSNV |
- |
2/12 |
1 |
X-37641438-T-C |
c.141+2T>C |
- |
IntronicSNV |
- |
2/12 |
1 |
X-37641438-T-G |
c.141+2T>G |
- |
IntronicSNV |
- |
2/12 |
1 |
X-37641439-A-T |
c.141+3A>T |
- |
IntronicSNV |
- |
2/12 |
2 |
X-37641441-G-A |
c.141+5G>A |
- |
IntronicSNV |
- |
2/12 |
1 |
X-37641441-G-T |
c.141+5G>T |
- |
IntronicSNV |
- |
2/12 |
1 |
X-37641442-T-A |
c.141+6T>A |
- |
IntronicSNV |
- |
2/12 |
1 |
X-37641484-C-G |
c.141+48C>G |
- |
IntronicSNV |
- |
2/12 |
1 |
X-37641526-C-A |
c.141+90C>A |
- |
IntronicSNV |
- |
2/12 |
3 |
X-37642405-G-T |
c.142-338G>T |
- |
IntronicSNV |
- |
2/12 |
1 |
X-37642743-GTCAGCACTGGCACTGGCCAGGGCCCCTGCAGCCTGCCTGAATTTCAACTGCATGCTGAT-G |
c.144_202del |
p.A49Lfs*34 |
InFrameDeletion |
3/13 |
- |
3 |
X-37642743-GTCAGCACTGGCACTGGCC-G |
c.142_159del |
p.S48_A53del |
SpliceAcceptorDeletion |
3/13 |
- |
1 |
X-37642743-T-C |
c.142T>C |
p.S48P |
Missense |
3/13 |
- |
1 |
X-37642744-C-G |
c.143C>G |
p.S48* |
Nonsense |
3/13 |
- |
1 |
X-37642746-GCA-TTT |
c.145_147delinsTTT |
p.A49F |
Missense |
3/13 |
- |
1 |
X-37642752-GCA-TGG |
c.151_153delinsTGG |
p.A51W |
Missense |
3/13 |
- |
1 |
X-37642752-GCA-TGT |
c.151_153delinsTGT |
p.A51C |
Missense |
3/13 |
- |
1 |
X-37642752-G-T |
c.151G>T |
p.A51S |
Missense |
3/13 |
- |
1 |
X-37642753-C-G |
c.152C>G |
p.A51G |
Missense |
3/13 |
- |
1 |
X-37642756-T-C |
c.155T>C |
p.L52P |
Missense |
3/13 |
- |
4 |
X-37642756-T-G |
c.155T>G |
p.L52R |
Missense |
3/13 |
- |
1 |
X-37642758-G-A |
c.157G>A |
p.A53T |
Missense |
3/13 |
- |
24 |
X-37642758-GC-AT |
c.157_158delinsAT |
p.A53I |
Missense |
3/13 |
- |
1 |
X-37642759-C-A |
c.158C>A |
p.A53D |
Missense |
3/13 |
- |
5 |
X-37642759-CC-AG |
c.158_159delinsAG |
p.A53E |
Missense |
3/13 |
- |
2 |
X-37642758-G-GC |
c.159dup |
p.R54Qfs*49 |
Frameshift |
3/13 |
- |
2 |
X-37642756-TGGCCAG-T |
c.160_165del |
p.R54_A55del |
InFrameDeletion |
3/13 |
- |
1 |
X-37642761-A-G |
c.160A>G |
p.R54G |
Missense |
3/13 |
- |
6 |
X-37642761-AGG-TGT |
c.160_162delinsTGT |
p.R54C |
Missense |
3/13 |
- |
1 |
X-37642762-G-T |
c.161G>T |
p.R54M |
Missense |
3/13 |
- |
5 |
X-37642763-G-C |
c.162G>C |
p.R54S |
Missense |
3/13 |
- |
8 |
X-37642763-G-T |
c.162G>T |
p.R54S |
Missense |
3/13 |
- |
5 |
X-37642765-C-A |
c.164C>A |
p.A55D |
Missense |
3/13 |
- |
7 |
X-37642765-C-G |
c.164C>G |
p.A55G |
Missense |
3/13 |
- |
1 |
X-37642767-C-A |
c.166C>A |
p.P56T |
Missense |
3/13 |
- |
1 |
X-37642767-C-T |
c.166C>T |
p.P56S |
Missense |
3/13 |
- |
2 |
X-37642764-G-GC |
c.167dup |
p.A57Cfs*46 |
Frameshift |
3/13 |
- |
1 |
X-37642768-C-T |
c.167C>T |
p.P56L |
Missense |
3/13 |
- |
5 |
X-37642769-T-TG |
c.169dup |
p.A57Gfs*46 |
Frameshift |
3/13 |
- |
1 |
X-37642770-G-A |
c.169G>A |
p.A57T |
Missense |
3/13 |
- |
1 |
X-37642771-C-A |
c.170C>A |
p.A57E |
Missense |
3/13 |
- |
10 |
X-37642771-C-G |
c.170C>G |
p.A57G |
Missense |
3/13 |
- |
1 |
X-37642773-G-A |
c.172G>A |
p.A58T |
Missense |
3/13 |
- |
2 |
X-37642773-GC-TG |
c.172_173delinsTG |
p.A58C |
Missense |
3/13 |
- |
1 |
X-37642773-G-T |
c.172G>T |
p.A58S |
Missense |
3/13 |
- |
1 |
X-37642776-T-C |
c.175T>C |
p.C59R |
Missense |
3/13 |
- |
6 |
X-37642776-TG-GC |
c.175_176delinsGC |
p.C59A |
Missense |
3/13 |
- |
1 |
X-37642777-G-A |
c.176G>A |
p.C59Y |
Missense |
3/13 |
- |
3 |
X-37642777-G-T |
c.176G>T |
p.C59F |
Missense |
3/13 |
- |
6 |
X-37642778-C-A |
c.177C>A |
p.C59* |
Nonsense |
3/13 |
- |
1 |
X-37642778-C-G |
c.177C>G |
p.C59W |
Missense |
3/13 |
- |
5 |
X-37642780-T-G |
c.179T>G |
p.L60R |
Missense |
3/13 |
- |
1 |
X-37642781-G-C |
c.180G>C |
p.L60= |
Synonymous |
3/13 |
- |
1 |
X-37642785-T-A |
c.184T>A |
p.F62I |
Missense |
3/13 |
- |
1 |
X-37642785-T-C |
c.184T>C |
p.F62L |
Missense |
3/13 |
- |
1 |
X-37642787-C-A |
c.186C>A |
p.F62L |
Missense |
3/13 |
- |
1 |
X-37642787-C-G |
c.186C>G |
p.F62L |
Missense |
3/13 |
- |
1 |
X-37642783-AT-A |
c.185del |
p.F62Sfs*5 |
Frameshift |
3/13 |
- |
1 |
X-37642786-TC-AA |
c.185_186delinsAA |
p.F62* |
Nonsense |
3/13 |
- |
1 |
X-37642786-TTC-T |
c.185_186del |
p.F62* |
Frameshift |
3/13 |
- |
1 |
X-37642787-C-T |
c.186C>T |
p.F62= |
Synonymous |
3/13 |
- |
3 |
X-37642790-C-A |
c.189C>A |
p.N63K |
Missense |
3/13 |
- |
3 |
X-37642790-C-G |
c.189C>G |
p.N63K |
Missense |
3/13 |
- |
4 |
X-37642791-T-A |
c.190T>A |
p.C64S |
Missense |
3/13 |
- |
1 |
X-37642791-T-C |
c.190T>C |
p.C64R |
Missense |
3/13 |
- |
5 |
X-37642791-T-G |
c.190T>G |
p.C64G |
Missense |
3/13 |
- |
1 |
X-37642792-G-A |
c.191G>A |
p.C64Y |
Missense |
3/13 |
- |
2 |
X-37642793-C-A |
c.192C>A |
p.C64* |
Nonsense |
3/13 |
- |
1 |
X-37642795-T-G |
c.194T>G |
p.M65R |
Missense |
3/13 |
- |
3 |
X-37642795-T-TG |
c.195dup |
p.L66Afs*37 |
Frameshift |
3/13 |
- |
1 |
X-37642797-C-T |
c.196C>T |
p.L66= |
Synonymous |
3/13 |
- |
2 |
X-37642798-T-C |
c.197T>C |
p.L66P |
Missense |
3/13 |
- |
3 |
X-37642800-A-AT |
c.201dup |
p.L68Sfs*35 |
Frameshift |
3/13 |
- |
1 |
X-37642803-C-T |
c.202C>T |
p.L68F |
Missense |
3/13 |
- |
1 |
X-37642807-T-C |
c.206T>C |
p.L69S |
Missense |
3/13 |
- |
1 |
X-37642808-G-C |
c.207G>C |
p.L69F |
Missense |
3/13 |
- |
1 |
X-37642808-G-T |
c.207G>T |
p.L69F |
Missense |
3/13 |
- |
1 |
X-37642810-C-CA |
c.210dup |
p.V71Sfs*32 |
Frameshift |
3/13 |
- |
1 |
X-37642812-G-A |
c.211G>A |
p.V71I |
Missense |
3/13 |
- |
1 |
X-37642815-T-C |
c.214T>C |
p.C72R |
Missense |
3/13 |
- |
1 |
X-37642818-CGA-TGT |
c.217_219delinsTGT |
p.R73C |
Missense |
3/13 |
- |
2 |
X-37642818-C-T |
c.217C>T |
p.R73* |
Nonsense |
3/13 |
- |
14 |
X-37642819-G-A |
c.218G>A |
p.R73Q |
Missense |
3/13 |
- |
7 |
X-37642819-G-T |
c.218G>T |
p.R73L |
Missense |
3/13 |
- |
1 |
X-37642824-C-A |
c.223C>A |
p.L75M |
Missense |
3/13 |
- |
1 |
X-37642827-CT-GC |
c.226_227delinsGC |
p.L76A |
Missense |
3/13 |
- |
1 |
X-37642827-GC-G |
c.226del |
p.L76Cfs*32 |
Frameshift |
3/13 |
- |
1 |
X-37642827-C-T |
c.226C>T |
p.L76= |
Synonymous |
3/13 |
- |
2 |
X-37642829-G-A |
c.228G>A |
p.L76= |
Synonymous |
3/13 |
- |
1 |
X-37642829-G-C |
c.228G>C |
p.L76= |
Synonymous |
3/13 |
- |
1 |
X-37642829-G-T |
c.228G>T |
p.L76= |
Synonymous |
3/13 |
- |
1 |
X-37642830-T-C |
c.229T>C |
p.S77P |
Missense |
3/13 |
- |
1 |
X-37642831-C-T |
c.230C>T |
p.S77F |
Missense |
3/13 |
- |
2 |
X-37642835-C-T |
c.234C>T |
p.F78= |
Synonymous |
3/13 |
- |
1 |
X-37642837-CT-C |
c.236del |
p.L79Pfs*29 |
Frameshift |
3/13 |
- |
1 |
X-37642841-G-C |
c.240G>C |
p.R80S |
Missense |
3/13 |
- |
1 |
X-37642841-G-T |
c.240G>T |
p.R80S |
Missense |
3/13 |
- |
1 |
X-37642842-G-A |
c.241G>A |
p.G81S |
Missense |
3/13 |
- |
2 |
X-37642839-A-AG |
c.242dup |
p.S82Ffs*21 |
Frameshift |
3/13 |
- |
1 |
X-37642839-AG-A |
c.242del |
p.G81Vfs*27 |
Frameshift |
3/13 |
- |
1 |
X-37642845-TC-AA |
c.244_245delinsAA |
p.S82N |
Missense |
3/13 |
- |
1 |
X-37642846-C-T |
c.245C>T |
p.S82F |
Missense |
3/13 |
- |
1 |
X-37642845-TC-T |
c.246del |
p.S83Vfs*25 |
Frameshift |
3/13 |
- |
1 |
X-37642849-G-A |
c.248G>A |
p.S83N |
Missense |
3/13 |
- |
2 |
X-37642851-GCG-TGT |
c.250_252delinsTGT |
p.A84C |
Missense |
3/13 |
- |
1 |
X-37642851-GCG-TTT |
c.250_252delinsTTT |
p.A84F |
Missense |
3/13 |
- |
1 |
X-37642852-C-A |
c.251C>A |
p.A84E |
Missense |
3/13 |
- |
1 |
X-37642852-GC-G |
c.251del |
p.A84Gfs*24 |
Frameshift |
3/13 |
- |
1 |
X-37642852-C-CGA |
c.252_252+1insAG |
p.C85Sfs*24 |
SpliceDonorInsertion |
- |
- |
1 |
X-37642853-G-A |
c.252G>A |
p.A84= |
Synonymous |
3/13 |
- |
10 |
X-37642853-G-C |
c.252G>C |
p.A84= |
Synonymous |
3/13 |
- |
1 |
X-37642853-G-T |
c.252G>T |
p.A84= |
Synonymous |
3/13 |
- |
3 |
X-37642854-G-A |
c.252+1G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
X-37642854-G-C |
c.252+1G>C |
- |
IntronicSNV |
- |
3/12 |
3 |
X-37642854-G-T |
c.252+1G>T |
- |
IntronicSNV |
- |
3/12 |
1 |
X-37642854-G-GT |
c.252+2dup |
- |
IntronicInsertion |
- |
3/12 |
2 |
X-37642855-T-C |
c.252+2T>C |
- |
IntronicSNV |
- |
3/12 |
1 |
X-37642858-G-A |
c.252+5G>A |
- |
IntronicSNV |
- |
3/12 |
2 |
X-37642858-G-C |
c.252+5G>C |
- |
IntronicSNV |
- |
3/12 |
3 |
X-37642946-A-G |
c.252+93A>G |
- |
IntronicSNV |
- |
3/12 |
1 |
X-37644425-C-G |
c.252+1572C>G |
- |
IntronicSNV |
- |
3/12 |
2 |
X-37644425-C-T |
c.252+1572C>T |
- |
IntronicSNV |
- |
3/12 |
2 |
X-37651224-AAAGTGCTGCTCAAC-A |
c.253_266del |
p.C85Sfs*13 |
SpliceAcceptorDeletion |
4/13 |
- |
1 |
X-37651228-GTGCTGCTCAACAAGAGTTCGAAGACAACTGGACAGGAATCTCACCTTTCATAAAATGGT-G |
c.253_311del |
p.C85Gfs*18 |
InFrameDeletion |
4/13 |
- |
1 |
X-37651228-T-TCA |
c.253_254insCA |
p.C85Sfs*24 |
SpliceAcceptorInsertion |
4/13 |
- |
2 |
X-37651230-C-A |
c.255C>A |
p.C85* |
Nonsense |
4/13 |
- |
1 |
X-37651231-TG-GA |
c.256_257delinsGA |
p.C86D |
Missense |
4/13 |
- |
1 |
X-37651235-C-T |
c.260C>T |
p.S87L |
Missense |
4/13 |
- |
2 |
X-37651238-C-A |
c.263C>A |
p.T88K |
Missense |
4/13 |
- |
1 |
X-37651241-G-A |
c.266G>A |
p.R89K |
Missense |
4/13 |
- |
2 |
X-37651246-C-T |
c.271C>T |
p.R91* |
Nonsense |
4/13 |
- |
11 |
X-37651247-G-A |
c.272G>A |
p.R91Q |
Missense |
4/13 |
- |
6 |
X-37651247-G-T |
c.272G>T |
p.R91L |
Missense |
4/13 |
- |
2 |
X-37651249-AG-CA |
c.274_275delinsCA |
p.R92Q |
Missense |
4/13 |
- |
5 |
X-37651250-AG-A |
c.275del |
p.R92Nfs*16 |
Frameshift |
4/13 |
- |
1 |
X-37651252-C-T |
c.277C>T |
p.Q93* |
Nonsense |
4/13 |
- |
1 |
X-37651253-A-T |
c.278A>T |
p.Q93L |
Missense |
4/13 |
- |
1 |
X-37651255-C-T |
c.280C>T |
p.L94= |
Synonymous |
4/13 |
- |
2 |
X-37651257-G-A |
c.282G>A |
p.L94= |
Synonymous |
4/13 |
- |
2 |
X-37651257-G-C |
c.282G>C |
p.L94= |
Synonymous |
4/13 |
- |
2 |
X-37651257-G-T |
c.282G>T |
p.L94= |
Synonymous |
4/13 |
- |
2 |
X-37651261-AG-GA |
c.286_287delinsGA |
p.R96E |
Missense |
4/13 |
- |
1 |
X-37651261-AG-GC |
c.286_287delinsGC |
p.R96A |
Missense |
4/13 |
- |
1 |
X-37651263-G-T |
c.288G>T |
p.R96S |
Missense |
4/13 |
- |
1 |
X-37651267-C-A |
c.292C>A |
p.L98I |
Missense |
4/13 |
- |
1 |
X-37651267-C-T |
c.292C>T |
p.L98F |
Missense |
4/13 |
- |
1 |
X-37651267-CT-AG |
c.292_293inv |
p.L98S |
Missense |
4/13 |
- |
1 |
X-37651270-CA-C |
c.295del |
p.T99Pfs*9 |
Frameshift |
4/13 |
- |
1 |
X-37651271-CCTTTCATAAA-TCC |
c.296_306delinsTCC |
p.T99Ifs*21 |
Frameshift |
4/13 |
- |
1 |
X-37651272-C-T |
c.297C>T |
p.T99= |
Synonymous |
4/13 |
- |
3 |
X-37651276-C-T |
c.301C>T |
p.H101Y |
Missense |
4/13 |
- |
6 |
X-37651277-A-C |
c.302A>C |
p.H101P |
Missense |
4/13 |
- |
1 |
X-37651277-A-G |
c.302A>G |
p.H101R |
Missense |
4/13 |
- |
5 |
X-37651277-A-T |
c.302A>T |
p.H101L |
Missense |
4/13 |
- |
1 |
X-37651278-T-C |
c.303T>C |
p.H101= |
Synonymous |
4/13 |
- |
1 |
X-37651279-A-C |
c.304A>C |
p.K102Q |
Missense |
4/13 |
- |
1 |
X-37651283-T-C |
c.308T>C |
p.M103T |
Missense |
4/13 |
- |
1 |
X-37651284-G-T |
c.309G>T |
p.M103I |
Missense |
4/13 |
- |
1 |
X-37651289-C-G |
c.314C>G |
p.A105G |
Missense |
4/13 |
- |
1 |
X-37651291-TG-GC |
c.316_317delinsGC |
p.W106A |
Missense |
4/13 |
- |
1 |
X-37651292-G-A |
c.317G>A |
p.W106* |
Nonsense |
4/13 |
- |
2 |
X-37651293-G-A |
c.318G>A |
p.W106* |
Nonsense |
4/13 |
- |
1 |
X-37651295-T-G |
c.320T>G |
p.M107R |
Missense |
4/13 |
- |
3 |
X-37651295-T-TG |
c.321dup |
p.I108Dfs*15 |
Frameshift |
4/13 |
- |
1 |
X-37651297-AT-GC |
c.322_323delinsGC |
p.I108A |
Missense |
4/13 |
- |
1 |
X-37651298-T-C |
c.323T>C |
p.I108T |
Missense |
4/13 |
- |
2 |
X-37651299-T-A |
c.324T>A |
p.I108= |
Synonymous |
4/13 |
- |
1 |
X-37651299-T-C |
c.324T>C |
p.I108= |
Synonymous |
4/13 |
- |
1 |
X-37651300-G-A |
c.325G>A |
p.A109T |
Missense |
4/13 |
- |
2 |
X-37651300-GCA-TGG |
c.325_327delinsTGG |
p.A109W |
Missense |
4/13 |
- |
1 |
X-37651300-G-T |
c.325G>T |
p.A109S |
Missense |
4/13 |
- |
2 |
X-37651300-GCA-G |
c.327_328del |
p.L110Sfs*12 |
Frameshift |
4/13 |
- |
1 |
X-37651306-C-T |
c.331C>T |
p.H111Y |
Missense |
4/13 |
- |
3 |
X-37651305-TCA-T |
c.332_333del |
p.H111Lfs*11 |
Frameshift |
4/13 |
- |
1 |
X-37651307-A-G |
c.332A>G |
p.H111R |
Missense |
4/13 |
- |
1 |
X-37651309-T-C |
c.334T>C |
p.S112P |
Missense |
4/13 |
- |
3 |
X-37651312-G-A |
c.337G>A |
p.A113T |
Missense |
4/13 |
- |
1 |
X-37651312-G-C |
c.337G>C |
p.A113P |
Missense |
4/13 |
- |
3 |
X-37651312-G-T |
c.337G>T |
p.A113S |
Missense |
4/13 |
- |
2 |
X-37651313-G-A |
c.337+1G>A |
- |
IntronicSNV |
- |
4/12 |
1 |
X-37651313-G-C |
c.337+1G>C |
- |
IntronicSNV |
- |
4/12 |
1 |
X-37651313-GGTAAGTTTATTAAAGAAAACTTGGAACCAGGGAGTTCCCTCTATTCATAGATACCTTTT-G |
c.337+1_337+59del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
- |
4/12 |
1 |
X-37651313-G-T |
c.337+1G>T |
- |
IntronicSNV |
- |
4/12 |
2 |
X-37651313-G-GT |
c.337+2dup |
- |
IntronicInsertion |
- |
4/12 |
1 |
X-37651316-A-AG |
c.337+5dup |
- |
IntronicInsertion |
- |
4/12 |
1 |
X-37651663-T-C |
c.337+351T>C |
- |
IntronicSNV |
- |
4/12 |
1 |
X-37652518-C-T |
c.338-400C>T |
- |
IntronicSNV |
- |
4/12 |
4 |
X-37652919-CG-C |
c.339del |
p.I114Ffs*14 |
Frameshift |
5/13 |
- |
1 |
X-37652919-G-A |
c.339G>A |
p.A113= |
Synonymous |
5/13 |
- |
4 |
X-37652919-G-C |
c.339G>C |
p.A113= |
Synonymous |
5/13 |
- |
3 |
X-37652919-G-T |
c.339G>T |
p.A113= |
Synonymous |
5/13 |
- |
3 |
X-37652923-C-T |
c.343C>T |
p.H115Y |
Missense |
5/13 |
- |
3 |
X-37652924-A-T |
c.344A>T |
p.H115L |
Missense |
5/13 |
- |
1 |
X-37652925-C-A |
c.345C>A |
p.H115Q |
Missense |
5/13 |
- |
2 |
X-37652925-C-G |
c.345C>G |
p.H115Q |
Missense |
5/13 |
- |
1 |
X-37652926-AC-GG |
c.346_347delinsGG |
p.T116G |
Missense |
5/13 |
- |
1 |
X-37652928-C-CA |
c.349dup |
p.I117Nfs*6 |
Frameshift |
5/13 |
- |
1 |
X-37652931-T-A |
c.351T>A |
p.I117= |
Synonymous |
5/13 |
- |
1 |
X-37652931-T-C |
c.351T>C |
p.I117= |
Synonymous |
5/13 |
- |
1 |
X-37652932-G-C |
c.352G>C |
p.A118P |
Missense |
5/13 |
- |
1 |
X-37652932-G-T |
c.352G>T |
p.A118S |
Missense |
5/13 |
- |
1 |
X-37652934-CA-C |
c.354del |
p.H119Ifs*9 |
Frameshift |
5/13 |
- |
1 |
X-37652935-C-CA |
c.356dup |
p.H119Qfs*4 |
Frameshift |
5/13 |
- |
1 |
X-37652936-A-G |
c.356A>G |
p.H119R |
Missense |
5/13 |
- |
5 |
X-37652938-C-T |
c.358C>T |
p.L120= |
Synonymous |
5/13 |
- |
2 |
X-37652938-CTA-TGT |
c.358_360delinsTGT |
p.L120C |
Missense |
5/13 |
- |
1 |
X-37652939-T-C |
c.359T>C |
p.L120P |
Missense |
5/13 |
- |
4 |
X-37652940-A-AG |
c.360_361insG |
p.F121Vfs*2 |
Frameshift |
5/13 |
- |
1 |
X-37652941-TT-GC |
c.361_362delinsGC |
p.F121A |
Missense |
5/13 |
- |
3 |
X-37652944-A-C |
c.364A>C |
p.N122H |
Missense |
5/13 |
- |
1 |
X-37652950-G-A |
c.370G>A |
p.E124K |
Missense |
5/13 |
- |
1 |
X-37652950-G-T |
c.370G>T |
p.E124* |
Nonsense |
5/13 |
- |
4 |
X-37652954-G-A |
c.374G>A |
p.W125* |
Nonsense |
5/13 |
- |
2 |
X-37652955-G-A |
c.375G>A |
p.W125* |
Nonsense |
5/13 |
- |
1 |
X-37652955-G-C |
c.375G>C |
p.W125C |
Missense |
5/13 |
- |
2 |
X-37652955-G-T |
c.375G>T |
p.W125C |
Missense |
5/13 |
- |
3 |
X-37652956-T-A |
c.376T>A |
p.C126S |
Missense |
5/13 |
- |
1 |
X-37652956-T-C |
c.376T>C |
p.C126R |
Missense |
5/13 |
- |
7 |
X-37652956-TG-AC |
c.376_377delinsAC |
p.C126T |
Missense |
5/13 |
- |
1 |
X-37652956-TG-GC |
c.376_377delinsGC |
p.C126A |
Missense |
5/13 |
- |
1 |
X-37652957-G-C |
c.377G>C |
p.C126S |
Missense |
5/13 |
- |
1 |
X-37652965-G-A |
c.385G>A |
p.A129T |
Missense |
5/13 |
- |
2 |
X-37652965-GC-G |
c.388del |
p.R130Efs*10 |
Frameshift |
5/13 |
- |
2 |
X-37652968-C-T |
c.388C>T |
p.R130* |
Nonsense |
5/13 |
- |
14 |
X-37652969-G-C |
c.389G>C |
p.R130P |
Missense |
5/13 |
- |
4 |
X-37652969-G-T |
c.389G>T |
p.R130L |
Missense |
5/13 |
- |
2 |
X-37652971-GTCAATAATTCTGA-G |
c.394_406del |
p.N132Lfs*4 |
Frameshift |
5/13 |
- |
1 |
X-37652974-AAT-A |
c.396_397del |
p.N132Kfs*3 |
Frameshift |
5/13 |
- |
1 |
X-37652976-TA-T |
c.398del |
p.N133Ifs*7 |
Frameshift |
5/13 |
- |
1 |
X-37652980-TC-AA |
c.400_401delinsAA |
p.S134N |
Missense |
5/13 |
- |
1 |
X-37652981-C-T |
c.401C>T |
p.S134F |
Missense |
5/13 |
- |
2 |
X-37652983-G-A |
c.403G>A |
p.D135N |
Missense |
5/13 |
- |
1 |
X-37652986-C-T |
c.406C>T |
p.P136S |
Missense |
5/13 |
- |
3 |
X-37652987-C-T |
c.407C>T |
p.P136L |
Missense |
5/13 |
- |
1 |
X-37652989-T-A |
c.409T>A |
p.Y137N |
Missense |
5/13 |
- |
2 |
X-37652990-A-G |
c.410A>G |
p.Y137C |
Missense |
5/13 |
- |
1 |
X-37652991-T-A |
c.411T>A |
p.Y137* |
Nonsense |
5/13 |
- |
1 |
X-37652993-C-A |
c.413C>A |
p.S138* |
Nonsense |
5/13 |
- |
1 |
X-37652996-T-C |
c.416T>C |
p.V139A |
Missense |
5/13 |
- |
1 |
X-37652999-CA-AC |
c.419_420delinsAC |
p.A140D |
Missense |
5/13 |
- |
2 |
X-37652999-C-G |
c.419C>G |
p.A140G |
Missense |
5/13 |
- |
1 |
X-37652999-C-T |
c.419C>T |
p.A140V |
Missense |
5/13 |
- |
2 |
X-37653001-C-T |
c.421C>T |
p.L141F |
Missense |
5/13 |
- |
1 |
X-37653002-T-C |
c.422T>C |
p.L141P |
Missense |
5/13 |
- |
4 |
X-37653004-T-C |
c.424T>C |
p.S142P |
Missense |
5/13 |
- |
3 |
X-37653004-TC-GA |
c.424_425inv |
p.S142D |
Missense |
5/13 |
- |
1 |
X-37653004-T-G |
c.424T>G |
p.S142A |
Missense |
5/13 |
- |
1 |
X-37653005-C-T |
c.425C>T |
p.S142F |
Missense |
5/13 |
- |
1 |
X-37653005-CT-AA |
c.425_426delinsAA |
p.S142* |
Nonsense |
5/13 |
- |
1 |
X-37653007-G-C |
c.427G>C |
p.E143Q |
Missense |
5/13 |
- |
2 |
X-37653010-C-T |
c.430C>T |
p.L144F |
Missense |
5/13 |
- |
2 |
X-37653011-T-C |
c.431T>C |
p.L144P |
Missense |
5/13 |
- |
1 |
X-37653013-G-A |
c.433G>A |
p.G145R |
Missense |
5/13 |
- |
2 |
X-37653013-G-C |
c.433G>C |
p.G145R |
Missense |
5/13 |
- |
2 |
X-37653013-GGA-AGC |
c.433_435delinsAGC |
p.G145S |
Missense |
5/13 |
- |
2 |
X-37653014-G-A |
c.434G>A |
p.G145E |
Missense |
5/13 |
- |
1 |
X-37653016-G-T |
c.436G>T |
p.D146Y |
Missense |
5/13 |
- |
3 |
X-37653019-CAG-C |
c.439_440del |
p.R147Afs*3 |
Frameshift |
5/13 |
- |
1 |
X-37653020-G-A |
c.440G>A |
p.R147K |
Missense |
5/13 |
- |
3 |
X-37653022-CA-GC |
c.442_443delinsGC |
p.Q148A |
Missense |
5/13 |
- |
1 |
X-37653022-CA-T |
c.442_443delinsT |
p.Q148* |
Frameshift |
5/13 |
- |
1 |
X-37653022-C-T |
c.442C>T |
p.Q148* |
Nonsense |
5/13 |
- |
1 |
X-37653022-C-CA |
c.446dup |
p.N149Kfs*2 |
Frameshift |
5/13 |
- |
1 |
X-37653028-G-T |
c.448G>T |
p.E150* |
Nonsense |
5/13 |
- |
2 |
X-37653030-A-G |
c.450A>G |
p.E150= |
Synonymous |
5/13 |
- |
1 |
X-37653033-GTT-G |
c.453_454del |
p.S151Rfs*13 |
Frameshift |
5/13 |
- |
1 |
X-37653034-T-G |
c.454T>G |
p.Y152D |
Missense |
5/13 |
- |
1 |
X-37653033-TTA-T |
c.455_456del |
p.Y152Sfs*12 |
Frameshift |
5/13 |
- |
1 |
X-37653036-T-A |
c.456T>A |
p.Y152* |
Nonsense |
5/13 |
- |
2 |
X-37653037-C-T |
c.457C>T |
p.L153F |
Missense |
5/13 |
- |
2 |
X-37653038-T-G |
c.458T>G |
p.L153R |
Missense |
5/13 |
- |
5 |
X-37653039-CA-C |
c.461del |
p.N154Ifs*7 |
Frameshift |
5/13 |
- |
1 |
X-37653041-A-G |
c.461A>G |
p.N154S |
Missense |
5/13 |
- |
1 |
X-37653044-T-G |
c.464T>G |
p.F155C |
Missense |
5/13 |
- |
1 |
X-37653046-G-A |
c.466G>A |
p.A156T |
Missense |
5/13 |
- |
8 |
X-37653047-C-A |
c.467C>A |
p.A156D |
Missense |
5/13 |
- |
1 |
X-37653049-C-T |
c.469C>T |
p.R157* |
Nonsense |
5/13 |
- |
17 |
X-37653050-G-A |
c.470G>A |
p.R157Q |
Missense |
5/13 |
- |
4 |
X-37653049-CGAAA-C |
c.472_475del |
p.K158Efs*2 |
Frameshift |
5/13 |
- |
1 |
X-37653053-AAGAGAATAAAGGTAAGCCTCTCATTATCTGACTTAGATATTCTCTAGGCCATTACAATT-A |
c.473_483+48del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
5/13 |
5/12 |
1 |
X-37653053-A-G |
c.473A>G |
p.K158R |
Missense |
5/13 |
- |
1 |
X-37653054-G-A |
c.474G>A |
p.K158= |
Synonymous |
5/13 |
- |
1 |
X-37653054-G-T |
c.474G>T |
p.K158N |
Missense |
5/13 |
- |
1 |
X-37653056-G-A |
c.476G>A |
p.R159K |
Missense |
5/13 |
- |
1 |
X-37653054-GAGAATAA-G |
c.477_483del |
p.I160Tfs*10 |
Frameshift |
5/13 |
- |
1 |
X-37653058-A-AT |
c.479dup |
p.N162Efs*3 |
Frameshift |
5/13 |
- |
1 |
X-37653060-A-G |
c.480A>G |
p.I160M |
Missense |
5/13 |
- |
1 |
X-37653061-AA-GC |
c.481_482delinsGC |
p.K161A |
Missense |
5/13 |
- |
1 |
X-37653059-TA-T |
c.482del |
p.K161Rfs*11 |
Frameshift |
5/13 |
- |
1 |
X-37653062-A-G |
c.482A>G |
p.K161R |
Missense |
5/13 |
- |
2 |
X-37653063-G-A |
c.483G>A |
p.K161= |
Synonymous |
5/13 |
- |
1 |
X-37653063-G-C |
c.483G>C |
p.K161N |
Missense |
5/13 |
- |
1 |
X-37653063-G-T |
c.483G>T |
p.K161N |
Missense |
5/13 |
- |
2 |
X-37653064-G-A |
c.483+1G>A |
- |
IntronicSNV |
- |
5/12 |
1 |
X-37653064-G-C |
c.483+1G>C |
- |
IntronicSNV |
- |
5/12 |
1 |
X-37653064-G-T |
c.483+1G>T |
- |
IntronicSNV |
- |
5/12 |
2 |
X-37653065-T-C |
c.483+2T>C |
- |
IntronicSNV |
- |
5/12 |
1 |
X-37653066-A-T |
c.483+3A>T |
- |
IntronicSNV |
- |
5/12 |
1 |
X-37653068-G-A |
c.483+5G>A |
- |
IntronicSNV |
- |
5/12 |
1 |
X-37654041-G-T |
c.483+978G>T |
- |
IntronicSNV |
- |
5/12 |
2 |
X-37655151-G-GTA |
c.484-52_484-51insAT |
- |
IntronicInsertion |
- |
5/12 |
1 |
X-37655204-GAACCCTGAAGGAGGCCTGTACCTGGCTGTGACCCTGTTGGCAGGCATCACTGGAGTTGT-G |
c.484_542del |
p.N162Hfs*22 |
InFrameDeletion |
6/13 |
- |
1 |
X-37655207-C-G |
c.487C>G |
p.P163A |
Missense |
6/13 |
- |
1 |
X-37655208-C-T |
c.488C>T |
p.P163L |
Missense |
6/13 |
- |
3 |
X-37655210-GA-G |
c.492del |
p.G165Efs*7 |
Frameshift |
6/13 |
- |
1 |
X-37655212-A-G |
c.492A>G |
p.E164= |
Synonymous |
6/13 |
- |
1 |
X-37655216-G-A |
c.496G>A |
p.G166S |
Missense |
6/13 |
- |
2 |
X-37655217-G-T |
c.497G>T |
p.G166V |
Missense |
6/13 |
- |
1 |
X-37655225-C-G |
c.505C>G |
p.L169V |
Missense |
6/13 |
- |
2 |
X-37655225-C-T |
c.505C>T |
p.L169= |
Synonymous |
6/13 |
- |
1 |
X-37655227-G-A |
c.507G>A |
p.L169= |
Synonymous |
6/13 |
- |
1 |
X-37655227-G-C |
c.507G>C |
p.L169= |
Synonymous |
6/13 |
- |
1 |
X-37655227-G-T |
c.507G>T |
p.L169= |
Synonymous |
6/13 |
- |
1 |
X-37655228-G-A |
c.508G>A |
p.A170T |
Missense |
6/13 |
- |
1 |
X-37655229-CT-AG |
c.509_510inv |
p.A170E |
Missense |
6/13 |
- |
1 |
X-37655231-G-A |
c.511G>A |
p.V171M |
Missense |
6/13 |
- |
1 |
X-37655234-AC-A |
c.517del |
p.L173Cfs*16 |
Frameshift |
6/13 |
- |
3 |
X-37655241-T-C |
c.521T>C |
p.L174S |
Missense |
6/13 |
- |
2 |
X-37655246-G-T |
c.526G>T |
p.G176C |
Missense |
6/13 |
- |
2 |
X-37655248-C-A |
c.528C>A |
p.G176= |
Synonymous |
6/13 |
- |
1 |
X-37655249-A-G |
c.529A>G |
p.I177V |
Missense |
6/13 |
- |
1 |
X-37655252-A-C |
c.532A>C |
p.T178P |
Missense |
6/13 |
- |
13 |
X-37655252-A-G |
c.532A>G |
p.T178A |
Missense |
6/13 |
- |
1 |
X-37655255-G-A |
c.535G>A |
p.G179R |
Missense |
6/13 |
- |
6 |
X-37655255-G-C |
c.535G>C |
p.G179R |
Missense |
6/13 |
- |
3 |
X-37655255-G-T |
c.535G>T |
p.G179* |
Nonsense |
6/13 |
- |
1 |
X-37655256-G-A |
c.536G>A |
p.G179E |
Missense |
6/13 |
- |
2 |
X-37655258-G-A |
c.538G>A |
p.V180I |
Missense |
6/13 |
- |
1 |
X-37655261-G-A |
c.541G>A |
p.V181I |
Missense |
6/13 |
- |
1 |
X-37655261-G-T |
c.541G>T |
p.V181F |
Missense |
6/13 |
- |
1 |
X-37655262-T-C |
c.542T>C |
p.V181A |
Missense |
6/13 |
- |
3 |
X-37655267-ACG-GAC |
c.547_549delinsGAC |
p.T183D |
Missense |
6/13 |
- |
1 |
X-37655264-ATCACGCTGTGCC-A |
c.548_559del |
p.T183_L186del |
InFrameDeletion |
6/13 |
- |
1 |
X-37655268-C-A |
c.548C>A |
p.T183K |
Missense |
6/13 |
- |
4 |
X-37655268-C-T |
c.548C>T |
p.T183M |
Missense |
6/13 |
- |
2 |
X-37655269-G-A |
c.549G>A |
p.T183= |
Synonymous |
6/13 |
- |
2 |
X-37655269-G-C |
c.549G>C |
p.T183= |
Synonymous |
6/13 |
- |
2 |
X-37655269-G-T |
c.549G>T |
p.T183= |
Synonymous |
6/13 |
- |
2 |
X-37655270-C-T |
c.550C>T |
p.L184= |
Synonymous |
6/13 |
- |
3 |
X-37655273-T-C |
c.553T>C |
p.C185R |
Missense |
6/13 |
- |
3 |
X-37655273-TG-GC |
c.553_554delinsGC |
p.C185A |
Missense |
6/13 |
- |
1 |
X-37655274-TG-T |
c.554del |
p.C185Sfs*4 |
Frameshift |
6/13 |
- |
1 |
X-37655275-C-A |
c.555C>A |
p.C185* |
Nonsense |
6/13 |
- |
2 |
X-37655280-T-G |
c.560T>G |
p.I187R |
Missense |
6/13 |
- |
1 |
X-37655282-ATTAATTATC-A |
c.562_570del |
p.L188_I190del |
InFrameDeletion |
6/13 |
- |
1 |
X-37655280-TATTA-T |
c.565_568del |
p.I189Sfs*24 |
Frameshift |
6/13 |
- |
2 |
X-37655285-A-AT |
c.567dup |
p.I190Yfs*14 |
Frameshift |
6/13 |
- |
1 |
X-37655286-TTATCAC-T |
c.568_573del |
p.I190_T191del |
InFrameDeletion |
6/13 |
- |
1 |
X-37655291-CACTTCCTCCACCAAAACCATCCGGAGGTCTTACT-C |
c.571_604del |
p.T191Lfs*12 |
Frameshift |
6/13 |
- |
1 |
X-37655291-A-T |
c.571A>T |
p.T191S |
Missense |
6/13 |
- |
1 |
X-37655292-C-G |
c.572C>G |
p.T191S |
Missense |
6/13 |
- |
1 |
X-37655296-C-A |
c.576C>A |
p.S192= |
Synonymous |
6/13 |
- |
2 |
X-37655296-C-G |
c.576C>G |
p.S192= |
Synonymous |
6/13 |
- |
2 |
X-37655296-C-T |
c.576C>T |
p.S192= |
Synonymous |
6/13 |
- |
3 |
X-37655297-T-C |
c.577T>C |
p.S193P |
Missense |
6/13 |
- |
6 |
X-37655298-C-T |
c.578C>T |
p.S193F |
Missense |
6/13 |
- |
4 |
X-37655300-A-T |
c.580A>T |
p.T194S |
Missense |
6/13 |
- |
1 |
X-37655301-C-T |
c.581C>T |
p.T194I |
Missense |
6/13 |
- |
2 |
X-37655308-C-G |
c.588C>G |
p.T196= |
Synonymous |
6/13 |
- |
1 |
X-37655310-T-C |
c.590T>C |
p.I197T |
Missense |
6/13 |
- |
1 |
X-37655310-TC-T |
c.592del |
p.R198Gfs*16 |
Frameshift |
6/13 |
- |
1 |
X-37655312-C-T |
c.592C>T |
p.R198W |
Missense |
6/13 |
- |
2 |
X-37655315-A-G |
c.595A>G |
p.R199G |
Missense |
6/13 |
- |
1 |
X-37655315-AG-CA |
c.595_596delinsCA |
p.R199Q |
Missense |
6/13 |
- |
2 |
X-37655315-GA-G |
c.595del |
p.R199Gfs*15 |
Frameshift |
6/13 |
- |
1 |
X-37655319-C-T |
c.599C>T |
p.S200F |
Missense |
6/13 |
- |
2 |
X-37655322-A-AC |
c.603dup |
p.F202Lfs*2 |
Frameshift |
6/13 |
- |
1 |
X-37655323-AC-A |
c.603del |
p.F202Lfs*12 |
Frameshift |
6/13 |
- |
1 |
X-37655323-C-A |
c.603C>A |
p.Y201* |
Nonsense |
6/13 |
- |
1 |
X-37655323-C-G |
c.603C>G |
p.Y201* |
Nonsense |
6/13 |
- |
1 |
X-37655326-TGA-GG |
c.606_608delinsGG |
p.F202Lfs*12 |
Frameshift |
6/13 |
- |
1 |
X-37655327-G-T |
c.607G>T |
p.E203* |
Nonsense |
6/13 |
- |
3 |
X-37655331-T-C |
c.611T>C |
p.V204A |
Missense |
6/13 |
- |
2 |
X-37655332-C-A |
c.612C>A |
p.V204= |
Synonymous |
6/13 |
- |
3 |
X-37655332-C-G |
c.612C>G |
p.V204= |
Synonymous |
6/13 |
- |
2 |
X-37655332-C-T |
c.612C>T |
p.V204= |
Synonymous |
6/13 |
- |
2 |
X-37655333-T-A |
c.613T>A |
p.F205I |
Missense |
6/13 |
- |
9 |
X-37655332-CT-C |
c.616del |
p.W206Gfs*8 |
Frameshift |
6/13 |
- |
2 |
X-37655337-G-A |
c.617G>A |
p.W206* |
Nonsense |
6/13 |
- |
2 |
X-37655338-G-A |
c.618G>A |
p.W206* |
Nonsense |
6/13 |
- |
3 |
X-37655340-A-G |
c.620A>G |
p.Y207C |
Missense |
6/13 |
- |
1 |
X-37655341-C-A |
c.621C>A |
p.Y207* |
Nonsense |
6/13 |
- |
2 |
X-37655342-AC-GA |
c.622_623delinsGA |
p.T208E |
Missense |
6/13 |
- |
1 |
X-37655342-A-G |
c.622A>G |
p.T208A |
Missense |
6/13 |
- |
2 |
X-37655343-C-G |
c.623C>G |
p.T208R |
Missense |
6/13 |
- |
2 |
X-37655343-C-T |
c.623C>T |
p.T208I |
Missense |
6/13 |
- |
4 |
X-37655339-TAC-T |
c.625_626del |
p.H209Sfs*16 |
Frameshift |
6/13 |
- |
1 |
X-37655345-CA-TG |
c.625_626inv |
p.H209C |
Missense |
6/13 |
- |
1 |
X-37655345-C-T |
c.625C>T |
p.H209Y |
Missense |
6/13 |
- |
5 |
X-37655346-A-G |
c.626A>G |
p.H209R |
Missense |
6/13 |
- |
7 |
X-37655347-T-A |
c.627T>A |
p.H209Q |
Missense |
6/13 |
- |
4 |
X-37655347-T-G |
c.627T>G |
p.H209Q |
Missense |
6/13 |
- |
2 |
X-37655348-C-T |
c.628C>T |
p.H210Y |
Missense |
6/13 |
- |
2 |
X-37655349-A-T |
c.629A>T |
p.H210L |
Missense |
6/13 |
- |
1 |
X-37655351-C-A |
c.631C>A |
p.L211I |
Missense |
6/13 |
- |
1 |
X-37655352-T-C |
c.632T>C |
p.L211P |
Missense |
6/13 |
- |
3 |
X-37655352-T-G |
c.632T>G |
p.L211R |
Missense |
6/13 |
- |
3 |
X-37655353-CT-C |
c.636del |
p.F212Lfs*2 |
Frameshift |
6/13 |
- |
1 |
X-37655357-G-GAA |
c.637_638insAA |
p.V213Efs*2 |
Frameshift |
6/13 |
- |
1 |
X-37655359-G-A |
c.639G>A |
p.V213= |
Synonymous |
6/13 |
- |
3 |
X-37655359-G-C |
c.639G>C |
p.V213= |
Synonymous |
6/13 |
- |
1 |
X-37655359-G-T |
c.639G>T |
p.V213= |
Synonymous |
6/13 |
- |
1 |
X-37655359-G-GA |
c.640dup |
p.I214Nfs*12 |
Frameshift |
6/13 |
- |
1 |
X-37655360-A-G |
c.640A>G |
p.I214V |
Missense |
6/13 |
- |
1 |
X-37655363-T-A |
c.643T>A |
p.F215I |
Missense |
6/13 |
- |
1 |
X-37655363-T-G |
c.643T>G |
p.F215V |
Missense |
6/13 |
- |
1 |
X-37655363-TT-GC |
c.643_644delinsGC |
p.F215A |
Missense |
6/13 |
- |
1 |
X-37655364-T-A |
c.644T>A |
p.F215Y |
Missense |
6/13 |
- |
1 |
X-37655360-ATCT-A |
c.646_648del |
p.F216del |
InFrameDeletion |
6/13 |
- |
4 |
X-37655368-C-A |
c.648C>A |
p.F216L |
Missense |
6/13 |
- |
1 |
X-37655368-C-T |
c.648C>T |
p.F216= |
Synonymous |
6/13 |
- |
1 |
X-37655369-A-G |
c.649A>G |
p.I217V |
Missense |
6/13 |
- |
1 |
X-37655373-G-A |
c.653G>A |
p.G218D |
Missense |
6/13 |
- |
2 |
X-37655375-C-A |
c.655C>A |
p.L219I |
Missense |
6/13 |
- |
1 |
X-37655384-C-A |
c.664C>A |
p.H222N |
Missense |
6/13 |
- |
5 |
X-37655384-C-T |
c.664C>T |
p.H222Y |
Missense |
6/13 |
- |
6 |
X-37655385-A-G |
c.665A>G |
p.H222R |
Missense |
6/13 |
- |
8 |
X-37655385-A-T |
c.665A>T |
p.H222L |
Missense |
6/13 |
- |
3 |
X-37655384-CATGGAGCTG-C |
c.666_674del |
p.H222_E225delinsQ |
SpliceDonorDeletion |
6/13 |
- |
1 |
X-37655387-GG-CT |
c.667_668delinsCT |
p.G223L |
Missense |
6/13 |
- |
3 |
X-37655387-G-T |
c.667G>T |
p.G223* |
Nonsense |
6/13 |
- |
3 |
X-37655387-TGG-T |
c.667_668del |
p.G223Sfs*2 |
Frameshift |
6/13 |
- |
1 |
X-37655388-G-C |
c.668G>C |
p.G223A |
Missense |
6/13 |
- |
1 |
X-37655388-G-T |
c.668G>T |
p.G223V |
Missense |
6/13 |
- |
1 |
X-37655390-G-A |
c.670G>A |
p.A224T |
Missense |
6/13 |
- |
1 |
X-37655391-C-G |
c.671C>G |
p.A224G |
Missense |
6/13 |
- |
5 |
X-37655393-G-A |
c.673G>A |
p.E225K |
Missense |
6/13 |
- |
1 |
X-37655394-A-T |
c.674A>T |
p.E225V |
Missense |
6/13 |
- |
5 |
X-37655395-G-A |
c.674+1G>A |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37655395-G-T |
c.674+1G>T |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37655396-T-C |
c.674+2T>C |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37655397-G-C |
c.674+3G>C |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37655397-G-T |
c.674+3G>T |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37655398-A-C |
c.674+4A>C |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37655398-A-G |
c.674+4A>G |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37655398-A-T |
c.674+4A>T |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37655399-G-A |
c.674+5G>A |
- |
IntronicSNV |
- |
6/12 |
3 |
X-37655399-G-C |
c.674+5G>C |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37655400-T-A |
c.674+6T>A |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37655400-T-C |
c.674+6T>C |
- |
IntronicSNV |
- |
6/12 |
4 |
X-37656315-A-G |
c.674+921A>G |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37656474-A-G |
c.674+1080A>G |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37656730-T-G |
c.674+1336T>G |
- |
IntronicSNV |
- |
6/12 |
1 |
X-37658209-C-T |
c.676C>T |
p.R226* |
Nonsense |
7/13 |
- |
32 |
X-37658210-G-A |
c.677G>A |
p.R226Q |
Missense |
7/13 |
- |
4 |
X-37658210-GA-AT |
c.677_678delinsAT |
p.R226H |
Missense |
7/13 |
- |
3 |
X-37658212-A-G |
c.679A>G |
p.I227V |
Missense |
7/13 |
- |
1 |
X-37658213-T-C |
c.680T>C |
p.I227T |
Missense |
7/13 |
- |
1 |
X-37658218-CG-AC |
c.685_686delinsAC |
p.R229T |
Missense |
7/13 |
- |
2 |
X-37658218-CGT-AAG |
c.685_687delinsAAG |
p.R229K |
Missense |
7/13 |
- |
1 |
X-37658219-G-A |
c.686G>A |
p.R229H |
Missense |
7/13 |
- |
3 |
X-37658221-G-C |
c.688G>C |
p.G230R |
Missense |
7/13 |
- |
2 |
X-37658224-C-T |
c.691C>T |
p.Q231* |
Nonsense |
7/13 |
- |
1 |
X-37658225-A-C |
c.692A>C |
p.Q231P |
Missense |
7/13 |
- |
12 |
X-37658230-G-A |
c.697G>A |
p.A233T |
Missense |
7/13 |
- |
1 |
X-37658231-C-A |
c.698C>A |
p.A233E |
Missense |
7/13 |
- |
1 |
X-37658233-G-C |
c.700G>C |
p.E234Q |
Missense |
7/13 |
- |
1 |
X-37658233-G-T |
c.700G>T |
p.E234* |
Nonsense |
7/13 |
- |
2 |
X-37658231-CAG-C |
c.703_704del |
p.S235Ffs*5 |
Frameshift |
7/13 |
- |
1 |
X-37658243-C-T |
c.710C>T |
p.A237V |
Missense |
7/13 |
- |
1 |
X-37658245-G-C |
c.712G>C |
p.V238L |
Missense |
7/13 |
- |
2 |
X-37658245-G-T |
c.712G>T |
p.V238L |
Missense |
7/13 |
- |
3 |
X-37658246-GT-G |
c.713del |
p.V238Gfs*4 |
Frameshift |
7/13 |
- |
3 |
X-37658247-G-GTA |
c.714_715insTA |
p.H239Yfs*4 |
Frameshift |
7/13 |
- |
2 |
X-37658249-A-G |
c.716A>G |
p.H239R |
Missense |
7/13 |
- |
1 |
X-37658252-A-G |
c.719A>G |
p.N240S |
Missense |
7/13 |
- |
1 |
X-37658253-T-C |
c.720T>C |
p.N240= |
Synonymous |
7/13 |
- |
1 |
X-37658254-ATA-CAT |
c.721_723delinsCAT |
p.I241H |
Missense |
7/13 |
- |
1 |
X-37658253-TATAAC-T |
c.722_726del |
p.I241Sfs*3 |
Frameshift |
7/13 |
- |
2 |
X-37658256-AAC-A |
c.725_726del |
p.T242Sfs*3 |
Frameshift |
7/13 |
- |
2 |
X-37658260-G-C |
c.727G>C |
p.V243L |
Missense |
7/13 |
- |
2 |
X-37658263-T-A |
c.730T>A |
p.C244S |
Missense |
7/13 |
- |
6 |
X-37658263-T-C |
c.730T>C |
p.C244R |
Missense |
7/13 |
- |
5 |
X-37658263-T-G |
c.730T>G |
p.C244G |
Missense |
7/13 |
- |
1 |
X-37658264-G-C |
c.731G>C |
p.C244S |
Missense |
7/13 |
- |
7 |
X-37658264-G-A |
c.731G>A |
p.C244Y |
Missense |
7/13 |
- |
6 |
X-37658264-G-T |
c.731G>T |
p.C244F |
Missense |
7/13 |
- |
1 |
X-37658265-T-A |
c.732T>A |
p.C244* |
Nonsense |
7/13 |
- |
1 |
X-37658265-T-C |
c.732T>C |
p.C244= |
Synonymous |
7/13 |
- |
1 |
X-37658266-G-T |
c.733G>T |
p.E245* |
Nonsense |
7/13 |
- |
1 |
X-37658265-TGAACAAAAAATCTCA-T |
c.736_750del |
p.Q246_E250del |
InFrameDeletion |
7/13 |
- |
1 |
X-37658269-C-T |
c.736C>T |
p.Q246* |
Nonsense |
7/13 |
- |
6 |
X-37658270-A-C |
c.737A>C |
p.Q246P |
Missense |
7/13 |
- |
1 |
X-37658272-A-T |
c.739A>T |
p.K247* |
Nonsense |
7/13 |
- |
2 |
X-37658273-AA-T |
c.740_741delinsT |
p.K247Ifs*8 |
Frameshift |
7/13 |
- |
1 |
X-37658273-A-T |
c.740A>T |
p.K247I |
Missense |
7/13 |
- |
3 |
X-37658269-CA-C |
c.742del |
p.I248Sfs*7 |
Frameshift |
7/13 |
- |
2 |
X-37658269-C-CA |
c.742dup |
p.I248Nfs*36 |
Frameshift |
7/13 |
- |
14 |
X-37658275-A-T |
c.742A>T |
p.I248F |
Missense |
7/13 |
- |
1 |
X-37658275-AT-TG |
c.742_743delinsTG |
p.I248C |
Missense |
7/13 |
- |
1 |
X-37658276-T-C |
c.743T>C |
p.I248T |
Missense |
7/13 |
- |
1 |
X-37658277-C-T |
c.744C>T |
p.I248= |
Synonymous |
7/13 |
- |
1 |
X-37658278-T-C |
c.745T>C |
p.S249P |
Missense |
7/13 |
- |
1 |
X-37658279-C-T |
c.746C>T |
p.S249L |
Missense |
7/13 |
- |
2 |
X-37658281-G-A |
c.748G>A |
p.E250K |
Missense |
7/13 |
- |
1 |
X-37658281-G-C |
c.748G>C |
p.E250Q |
Missense |
7/13 |
- |
1 |
X-37658285-G-A |
c.752G>A |
p.W251* |
Nonsense |
7/13 |
- |
1 |
X-37658285-G-T |
c.752G>T |
p.W251L |
Missense |
7/13 |
- |
1 |
X-37658286-G-C |
c.753G>C |
p.W251C |
Missense |
7/13 |
- |
1 |
X-37658286-G-T |
c.753G>T |
p.W251C |
Missense |
7/13 |
- |
1 |
X-37658287-G-T |
c.754G>T |
p.G252* |
Nonsense |
7/13 |
- |
2 |
X-37658284-TG-T |
c.755del |
p.G252Efs*3 |
Frameshift |
7/13 |
- |
1 |
X-37658288-G-A |
c.755G>A |
p.G252E |
Missense |
7/13 |
- |
6 |
X-37658288-GGAAA-G |
c.755_758del |
p.G252Efs*2 |
Frameshift |
7/13 |
- |
1 |
X-37658288-GGA-G |
c.755_756del |
p.G252Efs*31 |
Frameshift |
7/13 |
- |
1 |
X-37658290-A-T |
c.757A>T |
p.K253* |
Nonsense |
7/13 |
- |
2 |
X-37658291-A-G |
c.758A>G |
p.K253R |
Missense |
7/13 |
- |
1 |
X-37658292-A-G |
c.759A>G |
p.K253= |
Synonymous |
7/13 |
- |
1 |
X-37658288-G-GA |
c.760dup |
p.I254Nfs*30 |
Frameshift |
7/13 |
- |
1 |
X-37658294-T-A |
c.761T>A |
p.I254K |
Missense |
7/13 |
- |
1 |
X-37658296-A-G |
c.763A>G |
p.K255E |
Missense |
7/13 |
- |
2 |
X-37658294-TA-T |
c.764del |
p.K255Rfs*14 |
Frameshift |
7/13 |
- |
1 |
X-37658299-G-A |
c.766G>A |
p.E256K |
Missense |
7/13 |
- |
4 |
X-37658301-A-G |
c.768A>G |
p.E256= |
Synonymous |
7/13 |
- |
1 |
X-37658302-T-C |
c.769T>C |
p.C257R |
Missense |
7/13 |
- |
3 |
X-37658304-C-A |
c.771C>A |
p.C257* |
Nonsense |
7/13 |
- |
2 |
X-37658303-GC-G |
c.773del |
p.P258Qfs*11 |
Frameshift |
7/13 |
- |
1 |
X-37658310-C-T |
c.777C>T |
p.I259= |
Synonymous |
7/13 |
- |
1 |
X-37658312-C-G |
c.779C>G |
p.P260R |
Missense |
7/13 |
- |
4 |
X-37658312-C-T |
c.779C>T |
p.P260L |
Missense |
7/13 |
- |
1 |
X-37658314-C-T |
c.781C>T |
p.Q261* |
Nonsense |
7/13 |
- |
2 |
X-37658314-TCA-T |
c.781_782del |
p.Q261Vfs*22 |
Frameshift |
7/13 |
- |
1 |
X-37658315-A-G |
c.782A>G |
p.Q261R |
Missense |
7/13 |
- |
1 |
X-37658318-T-C |
c.785T>C |
p.F262S |
Missense |
7/13 |
- |
1 |
X-37658321-GC-G |
c.788del |
p.A263Vfs*6 |
Frameshift |
7/13 |
- |
1 |
X-37658324-G-A |
c.791G>A |
p.G264E |
Missense |
7/13 |
- |
5 |
X-37658324-G-C |
c.791G>C |
p.G264A |
Missense |
7/13 |
- |
1 |
X-37658324-G-T |
c.791G>T |
p.G264V |
Missense |
7/13 |
- |
1 |
X-37658326-AA-GC |
c.793_794delinsGC |
p.N265A |
Missense |
7/13 |
- |
2 |
X-37658327-AC-A |
c.797del |
p.P266Lfs*3 |
Frameshift |
7/13 |
- |
1 |
X-37658332-C-CAA |
c.799_800insAA |
p.P267Qfs*3 |
Frameshift |
7/13 |
- |
1 |
X-37658332-C-T |
c.799C>T |
p.P267S |
Missense |
7/13 |
- |
2 |
X-37658335-ATG-GAC |
c.802_804delinsGAC |
p.M268D |
Missense |
7/13 |
- |
1 |
X-37658335-TATG-T |
c.802_804del |
p.M268del |
InFrameDeletion |
7/13 |
- |
1 |
X-37658338-G-A |
c.804+1G>A |
- |
IntronicSNV |
- |
7/12 |
2 |
X-37658338-G-T |
c.804+1G>T |
- |
IntronicSNV |
- |
7/12 |
1 |
X-37658339-T-A |
c.804+2T>A |
- |
IntronicSNV |
- |
7/12 |
1 |
X-37658339-T-C |
c.804+2T>C |
- |
IntronicSNV |
- |
7/12 |
5 |
X-37658362-T-A |
c.804+25T>A |
- |
IntronicSNV |
- |
7/12 |
1 |
X-37658455-A-G |
c.804+118A>G |
- |
IntronicSNV |
- |
7/12 |
4 |
X-37659562-T-A |
c.805-947T>A |
- |
IntronicSNV |
- |
7/12 |
1 |
X-37660509-A-G |
c.805A>G |
p.T269A |
Missense |
8/13 |
- |
1 |
X-37660509-GACTTGGAAATGGATAGTGGGTCCCATGTTTCTGTATCTCTGTGAGAGGTTGGTGCGGTT-G |
c.805_863del |
p.T269Lfs*59 |
InFrameDeletion |
8/13 |
- |
1 |
X-37660510-C-T |
c.806C>T |
p.T269I |
Missense |
8/13 |
- |
1 |
X-37660511-T-A |
c.807T>A |
p.T269= |
Synonymous |
8/13 |
- |
1 |
X-37660511-T-C |
c.807T>C |
p.T269= |
Synonymous |
8/13 |
- |
1 |
X-37660511-T-G |
c.807T>G |
p.T269= |
Synonymous |
8/13 |
- |
1 |
X-37660514-G-A |
c.810G>A |
p.W270* |
Nonsense |
8/13 |
- |
2 |
X-37660515-A-C |
c.811A>C |
p.K271Q |
Missense |
8/13 |
- |
1 |
X-37660515-A-T |
c.811A>T |
p.K271* |
Nonsense |
8/13 |
- |
1 |
X-37660519-G-A |
c.815G>A |
p.W272* |
Nonsense |
8/13 |
- |
2 |
X-37660519-G-T |
c.815G>T |
p.W272L |
Missense |
8/13 |
- |
1 |
X-37660520-G-A |
c.816G>A |
p.W272* |
Nonsense |
8/13 |
- |
3 |
X-37660521-A-G |
c.817A>G |
p.I273V |
Missense |
8/13 |
- |
1 |
X-37660522-T-C |
c.818T>C |
p.I273T |
Missense |
8/13 |
- |
1 |
X-37660523-A-C |
c.819A>C |
p.I273= |
Synonymous |
8/13 |
- |
1 |
X-37660523-A-T |
c.819A>T |
p.I273= |
Synonymous |
8/13 |
- |
1 |
X-37660527-G-C |
c.823G>C |
p.G275R |
Missense |
8/13 |
- |
1 |
X-37660527-G-T |
c.823G>T |
p.G275C |
Missense |
8/13 |
- |
1 |
X-37660528-G-A |
c.824G>A |
p.G275D |
Missense |
8/13 |
- |
1 |
X-37660530-C-A |
c.826C>A |
p.P276T |
Missense |
8/13 |
- |
1 |
X-37660533-ATGTTTCTGTATCTCTGTGAGAGG-A |
c.831_853del |
p.M277Ifs*63 |
Frameshift |
8/13 |
- |
1 |
X-37660536-T-A |
c.832T>A |
p.F278I |
Missense |
8/13 |
- |
1 |
X-37660539-C-T |
c.835C>T |
p.L279= |
Synonymous |
8/13 |
- |
1 |
X-37660539-CTG-ATC |
c.835_837delinsATC |
p.L279I |
Missense |
8/13 |
- |
1 |
X-37660540-T-C |
c.836T>C |
p.L279P |
Missense |
8/13 |
- |
1 |
X-37660544-T-A |
c.840T>A |
p.Y280* |
Nonsense |
8/13 |
- |
1 |
X-37660547-C-A |
c.843C>A |
p.L281= |
Synonymous |
8/13 |
- |
1 |
X-37660547-C-G |
c.843C>G |
p.L281= |
Synonymous |
8/13 |
- |
1 |
X-37660547-C-T |
c.843C>T |
p.L281= |
Synonymous |
8/13 |
- |
1 |
X-37660542-TATCTCTGTGAGAGGTTGGTGCGGTTTTGGCG-T |
c.844_874del |
p.C282Nfs*21 |
Frameshift |
8/13 |
- |
1 |
X-37660548-T-TG |
c.845dup |
p.C282Wfs*2 |
Frameshift |
8/13 |
- |
1 |
X-37660549-G-A |
c.845G>A |
p.C282Y |
Missense |
8/13 |
- |
2 |
X-37660551-G-C |
c.847G>C |
p.E283Q |
Missense |
8/13 |
- |
1 |
X-37660555-G-A |
c.851G>A |
p.R284K |
Missense |
8/13 |
- |
1 |
X-37660556-G-A |
c.852G>A |
p.R284= |
Synonymous |
8/13 |
- |
1 |
X-37660556-G-C |
c.852G>C |
p.R284S |
Missense |
8/13 |
- |
1 |
X-37660556-G-T |
c.852G>T |
p.R284S |
Missense |
8/13 |
- |
1 |
X-37660559-TGG-T |
c.855_856del |
p.L285Ffs*62 |
Frameshift |
8/13 |
- |
1 |
X-37660556-GTTGGTGCGGTT-G |
c.857_867del |
p.V286Afs*58 |
Frameshift |
8/13 |
- |
2 |
X-37660563-C-A |
c.859C>A |
p.R287= |
Synonymous |
8/13 |
- |
1 |
X-37660563-C-T |
c.859C>T |
p.R287W |
Missense |
8/13 |
- |
2 |
X-37660565-G-A |
c.861G>A |
p.R287= |
Synonymous |
8/13 |
- |
1 |
X-37660565-G-C |
c.861G>C |
p.R287= |
Synonymous |
8/13 |
- |
1 |
X-37660565-G-T |
c.861G>T |
p.R287= |
Synonymous |
8/13 |
- |
1 |
X-37660564-G-A |
c.860G>A |
p.R287Q |
Missense |
8/13 |
- |
1 |
X-37660566-T-A |
c.862T>A |
p.F288I |
Missense |
8/13 |
- |
1 |
X-37660568-T-C |
c.864T>C |
p.F288= |
Synonymous |
8/13 |
- |
3 |
X-37660570-G-A |
c.866G>A |
p.W289* |
Nonsense |
8/13 |
- |
1 |
X-37660571-G-A |
c.867G>A |
p.W289* |
Nonsense |
8/13 |
- |
2 |
X-37660571-G-C |
c.867G>C |
p.W289C |
Missense |
8/13 |
- |
1 |
X-37660571-G-T |
c.867G>T |
p.W289C |
Missense |
8/13 |
- |
2 |
X-37660572-C-T |
c.868C>T |
p.R290* |
Nonsense |
8/13 |
- |
17 |
X-37660573-G-A |
c.869G>A |
p.R290Q |
Missense |
8/13 |
- |
3 |
X-37660576-CT-AA |
c.872_873delinsAA |
p.S291* |
Nonsense |
8/13 |
- |
1 |
X-37660580-A-G |
c.876A>G |
p.Q292= |
Synonymous |
8/13 |
- |
1 |
X-37660581-C-T |
c.877C>T |
p.Q293* |
Nonsense |
8/13 |
- |
2 |
X-37660583-G-A |
c.879G>A |
p.Q293= |
Synonymous |
8/13 |
- |
1 |
X-37660586-G-A |
c.882G>A |
p.K294= |
Synonymous |
8/13 |
- |
1 |
X-37660587-G-C |
c.883G>C |
p.V295L |
Missense |
8/13 |
- |
4 |
X-37660587-G-T |
c.883G>T |
p.V295L |
Missense |
8/13 |
- |
3 |
X-37660588-T-A |
c.884T>A |
p.V295E |
Missense |
8/13 |
- |
1 |
X-37660592-C-G |
c.888C>G |
p.V296= |
Synonymous |
8/13 |
- |
1 |
X-37660594-ATCACCAAGGTACTGATTGGTTTAGTAATTACTAGTGGTCAGTGTCTAACTATATCATGG-A |
c.890_897+51del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
8/13 |
8/12 |
2 |
X-37660596-AC-A |
c.894del |
p.K299Rfs*14 |
Frameshift |
8/13 |
- |
1 |
X-37660601-G-A |
c.897G>A |
p.K299= |
Synonymous |
8/13 |
- |
3 |
X-37660601-G-C |
c.897G>C |
p.K299N |
Missense |
8/13 |
- |
4 |
X-37660601-G-T |
c.897G>T |
p.K299N |
Missense |
8/13 |
- |
5 |
X-37660602-G-A |
c.897+1G>A |
- |
IntronicSNV |
- |
8/12 |
1 |
X-37660602-G-T |
c.897+1G>T |
- |
IntronicSNV |
- |
8/12 |
1 |
X-37660626-A-G |
c.897+25A>G |
- |
IntronicSNV |
- |
8/12 |
1 |
X-37661859-ATTTTCTGTTTTCAAAATGAAGCTTTACAACTCCTTATTTCAGAACAGAAGGGAAGTTTG-A |
c.897+1260_898-1211del |
- |
Unclassified |
- |
8/12 |
1 |
X-37663130-G-A |
c.898G>A |
p.V300M |
Missense |
9/13 |
- |
1 |
X-37663134-T-TC |
c.903dup |
p.T302Hfs*46 |
Frameshift |
9/13 |
- |
1 |
X-37663136-A-C |
c.904A>C |
p.T302P |
Missense |
9/13 |
- |
3 |
X-37663136-A-T |
c.904A>T |
p.T302S |
Missense |
9/13 |
- |
1 |
X-37663138-T-C |
c.906T>C |
p.T302= |
Synonymous |
9/13 |
- |
1 |
X-37663139-C-A |
c.907C>A |
p.H303N |
Missense |
9/13 |
- |
8 |
X-37663139-C-T |
c.907C>T |
p.H303Y |
Missense |
9/13 |
- |
3 |
X-37663141-C-A |
c.909C>A |
p.H303Q |
Missense |
9/13 |
- |
3 |
X-37663141-C-G |
c.909C>G |
p.H303Q |
Missense |
9/13 |
- |
1 |
X-37663142-C-A |
c.910C>A |
p.P304T |
Missense |
9/13 |
- |
1 |
X-37663142-C-T |
c.910C>T |
p.P304S |
Missense |
9/13 |
- |
1 |
X-37663143-C-G |
c.911C>G |
p.P304R |
Missense |
9/13 |
- |
11 |
X-37663143-C-T |
c.911C>T |
p.P304L |
Missense |
9/13 |
- |
1 |
X-37663147-TC-T |
c.915del |
p.F305Lfs*8 |
Frameshift |
9/13 |
- |
1 |
X-37663148-A-T |
c.916A>T |
p.K306* |
Nonsense |
9/13 |
- |
1 |
X-37663150-A-G |
c.918A>G |
p.K306= |
Synonymous |
9/13 |
- |
1 |
X-37663147-CA-C |
c.919del |
p.T307Pfs*6 |
Frameshift |
9/13 |
- |
1 |
X-37663151-A-C |
c.919A>C |
p.T307P |
Missense |
9/13 |
- |
4 |
X-37663152-C-G |
c.920C>G |
p.T307S |
Missense |
9/13 |
- |
1 |
X-37663152-C-T |
c.920C>T |
p.T307I |
Missense |
9/13 |
- |
1 |
X-37663154-A-G |
c.922A>G |
p.I308V |
Missense |
9/13 |
- |
1 |
X-37663157-G-A |
c.925G>A |
p.E309K |
Missense |
9/13 |
- |
12 |
X-37663157-G-T |
c.925G>T |
p.E309* |
Nonsense |
9/13 |
- |
2 |
X-37663161-T-C |
c.929T>C |
p.L310P |
Missense |
9/13 |
- |
3 |
X-37663163-AC-A |
c.931del |
p.Q311Rfs*2 |
Frameshift |
9/13 |
- |
1 |
X-37663164-A-G |
c.932A>G |
p.Q311R |
Missense |
9/13 |
- |
3 |
X-37663167-T-A |
c.935T>A |
p.M312K |
Missense |
9/13 |
- |
6 |
X-37663167-T-G |
c.935T>G |
p.M312R |
Missense |
9/13 |
- |
3 |
X-37663169-A-G |
c.937A>G |
p.K313E |
Missense |
9/13 |
- |
1 |
X-37663174-G-C |
c.942G>C |
p.K314N |
Missense |
9/13 |
- |
3 |
X-37663174-G-T |
c.942G>T |
p.K314N |
Missense |
9/13 |
- |
2 |
X-37663167-TGAA-T |
c.943_945del |
p.K315del |
InFrameDeletion |
9/13 |
- |
2 |
X-37663176-AG-A |
c.948del |
p.F317Sfs*26 |
Frameshift |
9/13 |
- |
1 |
X-37663180-G-T |
c.948G>T |
p.G316= |
Synonymous |
9/13 |
- |
1 |
X-37663181-T-A |
c.949T>A |
p.F317I |
Missense |
9/13 |
- |
1 |
X-37663181-T-C |
c.949T>C |
p.F317L |
Missense |
9/13 |
- |
1 |
X-37663181-T-G |
c.949T>G |
p.F317V |
Missense |
9/13 |
- |
1 |
X-37663183-C-A |
c.951C>A |
p.F317L |
Missense |
9/13 |
- |
1 |
X-37663183-C-G |
c.951C>G |
p.F317L |
Missense |
9/13 |
- |
1 |
X-37663182-T-G |
c.950T>G |
p.F317C |
Missense |
9/13 |
- |
1 |
X-37663185-A-C |
c.953A>C |
p.K318T |
Missense |
9/13 |
- |
1 |
X-37663186-A-G |
c.954A>G |
p.K318= |
Synonymous |
9/13 |
- |
1 |
X-37663189-G-A |
c.957G>A |
p.M319I |
Missense |
9/13 |
- |
2 |
X-37663188-TG-T |
c.958del |
p.E320Kfs*23 |
Frameshift |
9/13 |
- |
2 |
X-37663190-G-T |
c.958G>T |
p.E320* |
Nonsense |
9/13 |
- |
1 |
X-37663190-GA-G |
c.960del |
p.V321Wfs*22 |
Frameshift |
9/13 |
- |
1 |
X-37663193-G-C |
c.961G>C |
p.V321L |
Missense |
9/13 |
- |
1 |
X-37663193-G-T |
c.961G>T |
p.V321L |
Missense |
9/13 |
- |
1 |
X-37663194-T-G |
c.962T>G |
p.V321G |
Missense |
9/13 |
- |
1 |
X-37663195-G-A |
c.963G>A |
p.V321= |
Synonymous |
9/13 |
- |
1 |
X-37663195-G-C |
c.963G>C |
p.V321= |
Synonymous |
9/13 |
- |
1 |
X-37663195-G-T |
c.963G>T |
p.V321= |
Synonymous |
9/13 |
- |
2 |
X-37663196-G-C |
c.964G>C |
p.G322R |
Missense |
9/13 |
- |
1 |
X-37663194-TG-T |
c.965del |
p.G322Dfs*21 |
Frameshift |
9/13 |
- |
1 |
X-37663197-G-A |
c.965G>A |
p.G322E |
Missense |
9/13 |
- |
8 |
X-37663199-C-A |
c.967C>A |
p.Q323K |
Missense |
9/13 |
- |
3 |
X-37663199-C-T |
c.967C>T |
p.Q323* |
Nonsense |
9/13 |
- |
1 |
X-37663204-C-A |
c.972C>A |
p.Y324* |
Nonsense |
9/13 |
- |
1 |
X-37663205-A-T |
c.973A>T |
p.I325F |
Missense |
9/13 |
- |
7 |
X-37663207-T-A |
c.975T>A |
p.I325= |
Synonymous |
9/13 |
- |
1 |
X-37663211-G-T |
c.979G>T |
p.V327F |
Missense |
9/13 |
- |
1 |
X-37663211-TG-T |
c.979del |
p.V327Sfs*16 |
Frameshift |
9/13 |
- |
1 |
X-37663212-T-A |
c.980T>A |
p.V327D |
Missense |
9/13 |
- |
2 |
X-37663216-G-A |
c.984G>A |
p.K328= |
Synonymous |
9/13 |
- |
1 |
X-37663217-T-C |
c.985T>C |
p.C329R |
Missense |
9/13 |
- |
5 |
X-37663219-C-A |
c.987C>A |
p.C329* |
Nonsense |
9/13 |
- |
1 |
X-37663222-A-AT |
c.990_991insT |
p.K331* |
Nonsense |
9/13 |
- |
1 |
X-37663221-CA-C |
c.992del |
p.K331Rfs*12 |
Frameshift |
9/13 |
- |
2 |
X-37663224-AG-A |
c.994del |
p.V332Cfs*11 |
Frameshift |
9/13 |
- |
1 |
X-37663226-G-A |
c.994G>A |
p.V332M |
Missense |
9/13 |
- |
1 |
X-37663228-G-A |
c.996G>A |
p.V332= |
Synonymous |
9/13 |
- |
1 |
X-37663229-T-C |
c.997T>C |
p.S333P |
Missense |
9/13 |
- |
8 |
X-37663230-C-T |
c.998C>T |
p.S333F |
Missense |
9/13 |
- |
2 |
X-37663234-G-A |
c.1002G>A |
p.K334= |
Synonymous |
9/13 |
- |
1 |
X-37663235-C-T |
c.1003C>T |
p.L335= |
Synonymous |
9/13 |
- |
1 |
X-37663238-G-T |
c.1006G>T |
p.E336* |
Nonsense |
9/13 |
- |
1 |
X-37663242-G-A |
c.1010G>A |
p.W337* |
Nonsense |
9/13 |
- |
2 |
X-37663243-G-A |
c.1011G>A |
p.W337* |
Nonsense |
9/13 |
- |
3 |
X-37663244-C-A |
c.1012C>A |
p.H338N |
Missense |
9/13 |
- |
2 |
X-37663244-CA-GC |
c.1012_1013delinsGC |
p.H338A |
Missense |
9/13 |
- |
1 |
X-37663244-C-T |
c.1012C>T |
p.H338Y |
Missense |
9/13 |
- |
6 |
X-37663245-A-C |
c.1013A>C |
p.H338P |
Missense |
9/13 |
- |
2 |
X-37663245-A-G |
c.1013A>G |
p.H338R |
Missense |
9/13 |
- |
4 |
X-37663246-C-A |
c.1014C>A |
p.H338Q |
Missense |
9/13 |
- |
6 |
X-37663246-C-G |
c.1014C>G |
p.H338Q |
Missense |
9/13 |
- |
2 |
X-37663245-A-AC |
c.1016dup |
p.T341Yfs*7 |
Frameshift |
9/13 |
- |
2 |
X-37663245-AC-A |
c.1016del |
p.P339Lfs*4 |
Frameshift |
9/13 |
- |
1 |
X-37663248-C-A |
c.1016C>A |
p.P339H |
Missense |
9/13 |
- |
8 |
X-37663248-C-G |
c.1016C>G |
p.P339R |
Missense |
9/13 |
- |
2 |
X-37663248-C-T |
c.1016C>T |
p.P339L |
Missense |
9/13 |
- |
4 |
X-37663250-TT-GC |
c.1018_1019delinsGC |
p.F340A |
Missense |
9/13 |
- |
1 |
X-37663251-T-C |
c.1019T>C |
p.F340S |
Missense |
9/13 |
- |
1 |
X-37663253-AC-GG |
c.1021_1022delinsGG |
p.T341G |
Missense |
9/13 |
- |
1 |
X-37663254-C-A |
c.1022C>A |
p.T341K |
Missense |
9/13 |
- |
7 |
X-37663254-CA-TG |
c.1022_1023inv |
p.T341M |
Missense |
9/13 |
- |
1 |
X-37663254-C-T |
c.1022C>T |
p.T341I |
Missense |
9/13 |
- |
5 |
X-37663257-T-A |
c.1025T>A |
p.L342Q |
Missense |
9/13 |
- |
7 |
X-37663258-G-A |
c.1026G>A |
p.L342= |
Synonymous |
9/13 |
- |
1 |
X-37663259-A-C |
c.1027A>C |
p.T343P |
Missense |
9/13 |
- |
4 |
X-37663260-C-A |
c.1028C>A |
p.T343K |
Missense |
9/13 |
- |
1 |
X-37663262-T-C |
c.1030T>C |
p.S344P |
Missense |
9/13 |
- |
4 |
X-37663263-C-T |
c.1031C>T |
p.S344F |
Missense |
9/13 |
- |
5 |
X-37663262-TC-T |
c.1032del |
p.A345Pfs*41 |
Frameshift |
9/13 |
- |
1 |
X-37663264-C-A |
c.1032C>A |
p.S344= |
Synonymous |
9/13 |
- |
1 |
X-37663264-C-T |
c.1032C>T |
p.S344= |
Synonymous |
9/13 |
- |
1 |
X-37663265-G-A |
c.1033G>A |
p.A345T |
Missense |
9/13 |
- |
3 |
X-37663270-CT-C |
c.1038del |
p.E347Rfs*39 |
Frameshift |
9/13 |
- |
3 |
X-37663271-TG-T |
c.1039del |
p.E347Rfs*39 |
Frameshift |
9/13 |
- |
1 |
X-37663274-G-A |
c.1042G>A |
p.E348K |
Missense |
9/13 |
- |
4 |
X-37663278-GA-G |
c.1046del |
p.D349Afs*37 |
Frameshift |
9/13 |
- |
1 |
X-37663281-T-C |
c.1049T>C |
p.F350S |
Missense |
9/13 |
- |
1 |
X-37663287-G-T |
c.1055G>T |
p.S352I |
Missense |
9/13 |
- |
1 |
X-37663288-T-A |
c.1056T>A |
p.S352R |
Missense |
9/13 |
- |
1 |
X-37663292-C-T |
c.1060C>T |
p.H354Y |
Missense |
9/13 |
- |
2 |
X-37663291-CCATAT-C |
c.1061_1065del |
p.H354Pfs*17 |
Frameshift |
9/13 |
- |
1 |
X-37663293-A-C |
c.1061A>C |
p.H354P |
Missense |
9/13 |
- |
3 |
X-37663293-A-G |
c.1061A>G |
p.H354R |
Missense |
9/13 |
- |
4 |
X-37663294-ATATCCGCATC-A |
c.1062_1071del |
p.H354Qfs*29 |
Frameshift |
9/13 |
- |
1 |
X-37663295-A-T |
c.1063A>T |
p.I355F |
Missense |
9/13 |
- |
1 |
X-37663295-TA-T |
c.1063del |
p.I355Sfs*31 |
Frameshift |
9/13 |
- |
1 |
X-37663296-T-A |
c.1064T>A |
p.I355N |
Missense |
9/13 |
- |
1 |
X-37663298-CGC-TGG |
c.1066_1068delinsTGG |
p.R356W |
Missense |
9/13 |
- |
1 |
X-37663298-C-T |
c.1066C>T |
p.R356C |
Missense |
9/13 |
- |
1 |
X-37663299-G-C |
c.1067G>C |
p.R356P |
Missense |
9/13 |
- |
5 |
X-37663301-A-G |
c.1069A>G |
p.I357V |
Missense |
9/13 |
- |
1 |
X-37663303-C-T |
c.1071C>T |
p.I357= |
Synonymous |
9/13 |
- |
1 |
X-37663304-G-A |
c.1072G>A |
p.V358I |
Missense |
9/13 |
- |
2 |
X-37663304-G-C |
c.1072G>C |
p.V358L |
Missense |
9/13 |
- |
3 |
X-37663304-G-T |
c.1072G>T |
p.V358F |
Missense |
9/13 |
- |
1 |
X-37663307-G-A |
c.1075G>A |
p.G359R |
Missense |
9/13 |
- |
5 |
X-37663307-G-C |
c.1075G>C |
p.G359R |
Missense |
9/13 |
- |
1 |
X-37663308-G-C |
c.1076G>C |
p.G359A |
Missense |
9/13 |
- |
2 |
X-37663308-G-T |
c.1076G>T |
p.G359V |
Missense |
9/13 |
- |
3 |
X-37663310-G-A |
c.1078G>A |
p.D360N |
Missense |
9/13 |
- |
1 |
X-37663310-GAC-AA |
c.1078_1080delinsAA |
p.D360Nfs*26 |
Frameshift |
9/13 |
- |
2 |
X-37663313-T-A |
c.1081T>A |
p.W361R |
Missense |
9/13 |
- |
3 |
X-37663313-T-C |
c.1081T>C |
p.W361R |
Missense |
9/13 |
- |
4 |
X-37663313-T-G |
c.1081T>G |
p.W361G |
Missense |
9/13 |
- |
1 |
X-37663314-G-A |
c.1082G>A |
p.W361* |
Nonsense |
9/13 |
- |
2 |
X-37663314-G-T |
c.1082G>T |
p.W361L |
Missense |
9/13 |
- |
2 |
X-37663315-G-A |
c.1083G>A |
p.W361* |
Nonsense |
9/13 |
- |
2 |
X-37663315-G-C |
c.1083G>C |
p.W361C |
Missense |
9/13 |
- |
4 |
X-37663315-G-T |
c.1083G>T |
p.W361C |
Missense |
9/13 |
- |
5 |
X-37663317-CA-TG |
c.1085_1086inv |
p.T362M |
Missense |
9/13 |
- |
1 |
X-37663317-C-G |
c.1085C>G |
p.T362R |
Missense |
9/13 |
- |
4 |
X-37663317-C-T |
c.1085C>T |
p.T362I |
Missense |
9/13 |
- |
4 |
X-37663318-A-C |
c.1086A>C |
p.T362= |
Synonymous |
9/13 |
- |
1 |
X-37663318-A-G |
c.1086A>G |
p.T362= |
Synonymous |
9/13 |
- |
1 |
X-37663318-A-T |
c.1086A>T |
p.T362= |
Synonymous |
9/13 |
- |
2 |
X-37663319-G-A |
c.1087G>A |
p.E363K |
Missense |
9/13 |
- |
3 |
X-37663319-G-C |
c.1087G>C |
p.E363Q |
Missense |
9/13 |
- |
1 |
X-37663320-A-G |
c.1088A>G |
p.E363G |
Missense |
9/13 |
- |
1 |
X-37663322-G-A |
c.1090G>A |
p.G364R |
Missense |
9/13 |
- |
8 |
X-37663322-G-C |
c.1090G>C |
p.G364R |
Missense |
9/13 |
- |
16 |
X-37663322-GG-AC |
c.1090_1091delinsAC |
p.G364T |
Missense |
9/13 |
- |
1 |
X-37663324-G-A |
c.1092G>A |
p.G364= |
Synonymous |
9/13 |
- |
3 |
X-37663325-C-CT |
c.1094dup |
p.F366Vfs*7 |
Frameshift |
9/13 |
- |
1 |
X-37663326-T-C |
c.1094T>C |
p.L365P |
Missense |
9/13 |
- |
4 |
X-37663325-C-T |
c.1093C>T |
p.L365= |
Synonymous |
9/13 |
- |
2 |
X-37663327-G-A |
c.1095G>A |
p.L365= |
Synonymous |
9/13 |
- |
2 |
X-37663327-G-C |
c.1095G>C |
p.L365= |
Synonymous |
9/13 |
- |
2 |
X-37663327-G-T |
c.1095G>T |
p.L365= |
Synonymous |
9/13 |
- |
2 |
X-37663327-TG-T |
c.1095del |
p.F366Sfs*20 |
Frameshift |
9/13 |
- |
2 |
X-37663330-C-A |
c.1098C>A |
p.F366L |
Missense |
9/13 |
- |
1 |
X-37663337-T-A |
c.1105T>A |
p.C369S |
Missense |
9/13 |
- |
1 |
X-37663337-T-C |
c.1105T>C |
p.C369R |
Missense |
9/13 |
- |
8 |
X-37663337-TG-AC |
c.1105_1106delinsAC |
p.C369T |
Missense |
9/13 |
- |
1 |
X-37663337-TGT-AAG |
c.1105_1107delinsAAG |
p.C369K |
Missense |
9/13 |
- |
1 |
X-37663338-G-C |
c.1106G>C |
p.C369S |
Missense |
9/13 |
- |
1 |
X-37663341-G-A |
c.1109G>A |
p.G370D |
Missense |
9/13 |
- |
1 |
X-37663343-T-C |
c.1111T>C |
p.C371R |
Missense |
9/13 |
- |
1 |
X-37663343-TG-GC |
c.1111_1112delinsGC |
p.C371A |
Missense |
9/13 |
- |
1 |
X-37663346-G-A |
c.1114G>A |
p.D372N |
Missense |
9/13 |
- |
3 |
X-37663350-A-G |
c.1118A>G |
p.K373R |
Missense |
9/13 |
- |
3 |
X-37663352-C-T |
c.1120C>T |
p.Q374* |
Nonsense |
9/13 |
- |
1 |
X-37663354-G-C |
c.1122G>C |
p.Q374H |
Missense |
9/13 |
- |
1 |
X-37663354-G-T |
c.1122G>T |
p.Q374H |
Missense |
9/13 |
- |
2 |
X-37663355-G-T |
c.1123G>T |
p.E375* |
Nonsense |
9/13 |
- |
1 |
X-37663357-G-A |
c.1125G>A |
p.E375= |
Synonymous |
9/13 |
- |
1 |
X-37663361-C-T |
c.1129C>T |
p.Q377* |
Nonsense |
9/13 |
- |
1 |
X-37663365-A-G |
c.1133A>G |
p.D378G |
Missense |
9/13 |
- |
4 |
X-37663367-G-A |
c.1135G>A |
p.A379T |
Missense |
9/13 |
- |
1 |
X-37663367-G-GC |
c.1136dup |
p.W380Vfs*5 |
Frameshift |
9/13 |
- |
1 |
X-37663371-G-A |
c.1139G>A |
p.W380* |
Nonsense |
9/13 |
- |
10 |
X-37663370-T-TG |
c.1140dup |
p.K381Efs*4 |
Frameshift |
9/13 |
- |
1 |
X-37663372-G-A |
c.1140G>A |
p.W380* |
Nonsense |
9/13 |
- |
8 |
X-37663373-A-T |
c.1141A>T |
p.K381* |
Nonsense |
9/13 |
- |
1 |
X-37663376-ACT-A |
c.1144_1145del |
p.L382Tfs*2 |
Frameshift |
9/13 |
- |
1 |
X-37663376-C-T |
c.1144C>T |
p.L382= |
Synonymous |
9/13 |
- |
1 |
X-37663375-ACTAC-A |
c.1147_1150del |
p.P383Rfs*2 |
SpliceDonorDeletion |
9/13 |
- |
1 |
X-37663379-C-T |
c.1147C>T |
p.P383S |
Missense |
9/13 |
- |
1 |
X-37663380-C-A |
c.1148C>A |
p.P383H |
Missense |
9/13 |
- |
1 |
X-37663380-C-T |
c.1148C>T |
p.P383L |
Missense |
9/13 |
- |
1 |
X-37663381-T-G |
c.1149T>G |
p.P383= |
Synonymous |
9/13 |
- |
1 |
X-37663380-CTAAG-C |
c.1150_1151+2del |
- |
SpliceDonorDeletion |
9/13 |
9/12 |
4 |
X-37663382-TAA-T |
c.1150_1151del |
p.K384Dfs*4 |
SpliceDonorDeletion |
9/13 |
- |
1 |
X-37663384-G-A |
c.1151+1G>A |
- |
IntronicSNV |
- |
9/12 |
2 |
X-37663383-AGT-A |
c.1151+2_1151+3del |
- |
SpliceDonorDeletion |
- |
9/12 |
1 |
X-37663384-G-GT |
c.1151+2dup |
- |
IntronicInsertion |
- |
9/12 |
1 |
X-37663387-A-T |
c.1151+4A>T |
- |
IntronicSNV |
- |
9/12 |
1 |
X-37663388-G-A |
c.1151+5G>A |
- |
IntronicSNV |
- |
9/12 |
1 |
X-37664259-G-A |
c.1152G>A |
p.K384= |
Synonymous |
10/13 |
- |
1 |
X-37664259-G-C |
c.1152G>C |
p.K384N |
Missense |
10/13 |
- |
2 |
X-37664259-G-T |
c.1152G>T |
p.K384N |
Missense |
10/13 |
- |
1 |
X-37664260-A-C |
c.1153A>C |
p.I385L |
Missense |
10/13 |
- |
1 |
X-37664260-A-G |
c.1153A>G |
p.I385V |
Missense |
10/13 |
- |
1 |
X-37664260-A-T |
c.1153A>T |
p.I385L |
Missense |
10/13 |
- |
1 |
X-37664260-ATA-CAT |
c.1153_1155delinsCAT |
p.I385H |
Missense |
10/13 |
- |
1 |
X-37664260-ATA-GAC |
c.1153_1155delinsGAC |
p.I385D |
Missense |
10/13 |
- |
1 |
X-37664260-ATA-TAT |
c.1153_1155inv |
p.I385Y |
Missense |
10/13 |
- |
1 |
X-37664260-ATA-TGG |
c.1153_1155delinsTGG |
p.I385W |
Missense |
10/13 |
- |
1 |
X-37664260-ATA-TGT |
c.1153_1155delinsTGT |
p.I385C |
Missense |
10/13 |
- |
1 |
X-37664260-ATA-TTT |
c.1153_1155delinsTTT |
p.I385F |
Missense |
10/13 |
- |
1 |
X-37664260-AT-CA |
c.1153_1154delinsCA |
p.I385Q |
Missense |
10/13 |
- |
1 |
X-37664260-AT-CC |
c.1153_1154delinsCC |
p.I385P |
Missense |
10/13 |
- |
1 |
X-37664260-AT-GA |
c.1153_1154delinsGA |
p.I385E |
Missense |
10/13 |
- |
1 |
X-37664260-AT-GC |
c.1153_1154delinsGC |
p.I385A |
Missense |
10/13 |
- |
1 |
X-37664260-AT-GG |
c.1153_1154delinsGG |
p.I385G |
Missense |
10/13 |
- |
1 |
X-37664260-AT-TA |
c.1153_1154delinsTA |
p.I385* |
Nonsense |
10/13 |
- |
1 |
X-37664261-T-A |
c.1154T>A |
p.I385K |
Missense |
10/13 |
- |
1 |
X-37664261-TA-AC |
c.1154_1155delinsAC |
p.I385N |
Missense |
10/13 |
- |
1 |
X-37664261-TA-GC |
c.1154_1155delinsGC |
p.I385S |
Missense |
10/13 |
- |
1 |
X-37664261-T-C |
c.1154T>C |
p.I385T |
Missense |
10/13 |
- |
1 |
X-37664261-T-G |
c.1154T>G |
p.I385R |
Missense |
10/13 |
- |
6 |
X-37664262-A-G |
c.1155A>G |
p.I385M |
Missense |
10/13 |
- |
1 |
X-37664263-G-A |
c.1156G>A |
p.A386T |
Missense |
10/13 |
- |
1 |
X-37664263-G-C |
c.1156G>C |
p.A386P |
Missense |
10/13 |
- |
1 |
X-37664263-GC-AA |
c.1156_1157delinsAA |
p.A386K |
Missense |
10/13 |
- |
1 |
X-37664263-GC-AG |
c.1156_1157delinsAG |
p.A386R |
Missense |
10/13 |
- |
1 |
X-37664263-GC-AT |
c.1156_1157delinsAT |
p.A386M |
Missense |
10/13 |
- |
1 |
X-37664263-GC-CA |
c.1156_1157delinsCA |
p.A386Q |
Missense |
10/13 |
- |
1 |
X-37664263-GC-CT |
c.1156_1157delinsCT |
p.A386L |
Missense |
10/13 |
- |
1 |
X-37664263-GCG-AAC |
c.1156_1158delinsAAC |
p.A386N |
Missense |
10/13 |
- |
1 |
X-37664263-GCG-ATC |
c.1156_1158delinsATC |
p.A386I |
Missense |
10/13 |
- |
1 |
X-37664263-GCG-CAT |
c.1156_1158delinsCAT |
p.A386H |
Missense |
10/13 |
- |
1 |
X-37664263-GCG-TAT |
c.1156_1158delinsTAT |
p.A386Y |
Missense |
10/13 |
- |
1 |
X-37664263-GCG-TGT |
c.1156_1158delinsTGT |
p.A386C |
Missense |
10/13 |
- |
1 |
X-37664263-GCG-TTT |
c.1156_1158delinsTTT |
p.A386F |
Missense |
10/13 |
- |
1 |
X-37664263-GC-TG |
c.1156_1157delinsTG |
p.A386W |
Missense |
10/13 |
- |
1 |
X-37664263-G-T |
c.1156G>T |
p.A386S |
Missense |
10/13 |
- |
1 |
X-37664264-C-A |
c.1157C>A |
p.A386E |
Missense |
10/13 |
- |
1 |
X-37664264-C-G |
c.1157C>G |
p.A386G |
Missense |
10/13 |
- |
1 |
X-37664264-CG-AC |
c.1157_1158delinsAC |
p.A386D |
Missense |
10/13 |
- |
1 |
X-37664264-C-T |
c.1157C>T |
p.A386V |
Missense |
10/13 |
- |
5 |
X-37664265-G-A |
c.1158G>A |
p.A386= |
Synonymous |
10/13 |
- |
3 |
X-37664265-G-C |
c.1158G>C |
p.A386= |
Synonymous |
10/13 |
- |
1 |
X-37664265-G-T |
c.1158G>T |
p.A386= |
Synonymous |
10/13 |
- |
2 |
X-37664266-G-A |
c.1159G>A |
p.V387I |
Missense |
10/13 |
- |
1 |
X-37664266-G-C |
c.1159G>C |
p.V387L |
Missense |
10/13 |
- |
1 |
X-37664266-G-T |
c.1159G>T |
p.V387F |
Missense |
10/13 |
- |
1 |
X-37664266-GT-AA |
c.1159_1160delinsAA |
p.V387N |
Missense |
10/13 |
- |
1 |
X-37664266-GT-AC |
c.1159_1160inv |
p.V387T |
Missense |
10/13 |
- |
1 |
X-37664266-GT-AG |
c.1159_1160delinsAG |
p.V387S |
Missense |
10/13 |
- |
1 |
X-37664266-GT-CA |
c.1159_1160delinsCA |
p.V387H |
Missense |
10/13 |
- |
1 |
X-37664266-GT-CC |
c.1159_1160delinsCC |
p.V387P |
Missense |
10/13 |
- |
1 |
X-37664266-GT-CG |
c.1159_1160delinsCG |
p.V387R |
Missense |
10/13 |
- |
1 |
X-37664266-GT-TA |
c.1159_1160delinsTA |
p.V387Y |
Missense |
10/13 |
- |
1 |
X-37664266-GTT-AAG |
c.1159_1161delinsAAG |
p.V387K |
Missense |
10/13 |
- |
1 |
X-37664266-GTT-ATG |
c.1159_1161delinsATG |
p.V387M |
Missense |
10/13 |
- |
1 |
X-37664266-GTT-CAA |
c.1159_1161delinsCAA |
p.V387Q |
Missense |
10/13 |
- |
1 |
X-37664266-GT-TG |
c.1159_1160delinsTG |
p.V387C |
Missense |
10/13 |
- |
1 |
X-37664266-GTT-TGG |
c.1159_1161delinsTGG |
p.V387W |
Missense |
10/13 |
- |
1 |
X-37664267-T-A |
c.1160T>A |
p.V387D |
Missense |
10/13 |
- |
1 |
X-37664267-T-C |
c.1160T>C |
p.V387A |
Missense |
10/13 |
- |
1 |
X-37664267-T-G |
c.1160T>G |
p.V387G |
Missense |
10/13 |
- |
1 |
X-37664267-TT-AG |
c.1160_1161delinsAG |
p.V387E |
Missense |
10/13 |
- |
1 |
X-37664269-G-A |
c.1162G>A |
p.D388N |
Missense |
10/13 |
- |
3 |
X-37664269-GA-AC |
c.1162_1163delinsAC |
p.D388T |
Missense |
10/13 |
- |
1 |
X-37664269-GA-AG |
c.1162_1163delinsAG |
p.D388S |
Missense |
10/13 |
- |
1 |
X-37664269-GA-AT |
c.1162_1163delinsAT |
p.D388I |
Missense |
10/13 |
- |
1 |
X-37664269-GA-CC |
c.1162_1163delinsCC |
p.D388P |
Missense |
10/13 |
- |
1 |
X-37664269-GA-CG |
c.1162_1163delinsCG |
p.D388R |
Missense |
10/13 |
- |
1 |
X-37664269-GA-CT |
c.1162_1163delinsCT |
p.D388L |
Missense |
10/13 |
- |
1 |
X-37664269-GAT-AAG |
c.1162_1164delinsAAG |
p.D388K |
Missense |
10/13 |
- |
1 |
X-37664269-GAT-ATG |
c.1162_1164delinsATG |
p.D388M |
Missense |
10/13 |
- |
1 |
X-37664269-GAT-CAA |
c.1162_1164delinsCAA |
p.D388Q |
Missense |
10/13 |
- |
1 |
X-37664269-GA-TG |
c.1162_1163delinsTG |
p.D388C |
Missense |
10/13 |
- |
1 |
X-37664269-GA-TT |
c.1162_1163delinsTT |
p.D388F |
Missense |
10/13 |
- |
1 |
X-37664269-GAT-TGG |
c.1162_1164delinsTGG |
p.D388W |
Missense |
10/13 |
- |
1 |
X-37664269-G-C |
c.1162G>C |
p.D388H |
Missense |
10/13 |
- |
1 |
X-37664269-G-T |
c.1162G>T |
p.D388Y |
Missense |
10/13 |
- |
1 |
X-37664270-A-C |
c.1163A>C |
p.D388A |
Missense |
10/13 |
- |
1 |
X-37664270-A-G |
c.1163A>G |
p.D388G |
Missense |
10/13 |
- |
1 |
X-37664270-A-T |
c.1163A>T |
p.D388V |
Missense |
10/13 |
- |
1 |
X-37664270-GA-G |
c.1163del |
p.D388Vfs*17 |
Frameshift |
10/13 |
- |
1 |
X-37664271-T-A |
c.1164T>A |
p.D388E |
Missense |
10/13 |
- |
1 |
X-37664271-T-G |
c.1164T>G |
p.D388E |
Missense |
10/13 |
- |
1 |
X-37664272-G-A |
c.1165G>A |
p.G389R |
Missense |
10/13 |
- |
5 |
X-37664272-G-C |
c.1165G>C |
p.G389R |
Missense |
10/13 |
- |
2 |
X-37664272-GG-AA |
c.1165_1166delinsAA |
p.G389K |
Missense |
10/13 |
- |
1 |
X-37664272-GG-AC |
c.1165_1166delinsAC |
p.G389T |
Missense |
10/13 |
- |
1 |
X-37664272-GG-AT |
c.1165_1166delinsAT |
p.G389M |
Missense |
10/13 |
- |
1 |
X-37664272-GG-CA |
c.1165_1166delinsCA |
p.G389Q |
Missense |
10/13 |
- |
1 |
X-37664272-GG-CC |
c.1165_1166inv |
p.G389P |
Missense |
10/13 |
- |
1 |
X-37664272-GG-CT |
c.1165_1166delinsCT |
p.G389L |
Missense |
10/13 |
- |
1 |
X-37664272-GGG-AAC |
c.1165_1167delinsAAC |
p.G389N |
Missense |
10/13 |
- |
1 |
X-37664272-GGG-AGC |
c.1165_1167delinsAGC |
p.G389S |
Missense |
10/13 |
- |
1 |
X-37664272-GGG-ATC |
c.1165_1167delinsATC |
p.G389I |
Missense |
10/13 |
- |
1 |
X-37664272-GGG-CAT |
c.1165_1167delinsCAT |
p.G389H |
Missense |
10/13 |
- |
1 |
X-37664272-GGG-TAT |
c.1165_1167delinsTAT |
p.G389Y |
Missense |
10/13 |
- |
1 |
X-37664272-GGG-TGT |
c.1165_1167delinsTGT |
p.G389C |
Missense |
10/13 |
- |
1 |
X-37664272-GGG-TTT |
c.1165_1167delinsTTT |
p.G389F |
Missense |
10/13 |
- |
1 |
X-37664272-G-T |
c.1165G>T |
p.G389W |
Missense |
10/13 |
- |
1 |
X-37664272-TGGGCCC-T |
c.1165_1170del |
p.G389_P390del |
InFrameDeletion |
10/13 |
- |
1 |
X-37664273-G-A |
c.1166G>A |
p.G389E |
Missense |
10/13 |
- |
8 |
X-37664273-G-C |
c.1166G>C |
p.G389A |
Missense |
10/13 |
- |
8 |
X-37664273-GG-AC |
c.1166_1167delinsAC |
p.G389D |
Missense |
10/13 |
- |
1 |
X-37664273-GGGCCC-G |
c.1166_1170del |
p.G389Vfs*6 |
Frameshift |
10/13 |
- |
1 |
X-37664273-G-T |
c.1166G>T |
p.G389V |
Missense |
10/13 |
- |
5 |
X-37664271-TG-T |
c.1167del |
p.F391Lfs*14 |
Frameshift |
10/13 |
- |
2 |
X-37664275-C-A |
c.1168C>A |
p.P390T |
Missense |
10/13 |
- |
1 |
X-37664275-CC-AA |
c.1168_1169delinsAA |
p.P390N |
Missense |
10/13 |
- |
1 |
X-37664275-CC-AT |
c.1168_1169delinsAT |
p.P390I |
Missense |
10/13 |
- |
1 |
X-37664275-CCC-AAG |
c.1168_1170delinsAAG |
p.P390K |
Missense |
10/13 |
- |
1 |
X-37664275-CCC-ATG |
c.1168_1170delinsATG |
p.P390M |
Missense |
10/13 |
- |
1 |
X-37664275-CCC-GAG |
c.1168_1170delinsGAG |
p.P390E |
Missense |
10/13 |
- |
1 |
X-37664275-CCC-TGG |
c.1168_1170delinsTGG |
p.P390W |
Missense |
10/13 |
- |
1 |
X-37664275-CC-GA |
c.1168_1169delinsGA |
p.P390D |
Missense |
10/13 |
- |
1 |
X-37664275-CC-GG |
c.1168_1169inv |
p.P390G |
Missense |
10/13 |
- |
1 |
X-37664275-CC-GT |
c.1168_1169delinsGT |
p.P390V |
Missense |
10/13 |
- |
1 |
X-37664275-CC-TA |
c.1168_1169delinsTA |
p.P390Y |
Missense |
10/13 |
- |
1 |
X-37664275-CC-TG |
c.1168_1169delinsTG |
p.P390C |
Missense |
10/13 |
- |
1 |
X-37664275-CC-TT |
c.1168_1169delinsTT |
p.P390F |
Missense |
10/13 |
- |
1 |
X-37664275-C-G |
c.1168C>G |
p.P390A |
Missense |
10/13 |
- |
1 |
X-37664275-C-T |
c.1168C>T |
p.P390S |
Missense |
10/13 |
- |
1 |
X-37664276-C-A |
c.1169C>A |
p.P390H |
Missense |
10/13 |
- |
1 |
X-37664276-CC-AA |
c.1169_1170delinsAA |
p.P390Q |
Missense |
10/13 |
- |
1 |
X-37664276-CCCTTT-C |
c.1169_1173del |
p.P390Rfs*5 |
Frameshift |
10/13 |
- |
1 |
X-37664276-C-G |
c.1169C>G |
p.P390R |
Missense |
10/13 |
- |
1 |
X-37664276-C-T |
c.1169C>T |
p.P390L |
Missense |
10/13 |
- |
5 |
X-37664273-GGCCCTTTGGCACT-G |
c.1170_1182del |
p.F391Vfs*10 |
Frameshift |
10/13 |
- |
1 |
X-37664278-CTTTGG-C |
c.1171_1175del |
p.F391Hfs*4 |
Frameshift |
10/13 |
- |
1 |
X-37664278-T-A |
c.1171T>A |
p.F391I |
Missense |
10/13 |
- |
1 |
X-37664278-T-C |
c.1171T>C |
p.F391L |
Missense |
10/13 |
- |
1 |
X-37664278-T-G |
c.1171T>G |
p.F391V |
Missense |
10/13 |
- |
1 |
X-37664278-TT-AA |
c.1171_1172inv |
p.F391N |
Missense |
10/13 |
- |
1 |
X-37664278-TT-AC |
c.1171_1172delinsAC |
p.F391T |
Missense |
10/13 |
- |
1 |
X-37664278-TT-CA |
c.1171_1172delinsCA |
p.F391H |
Missense |
10/13 |
- |
1 |
X-37664278-TT-CC |
c.1171_1172delinsCC |
p.F391P |
Missense |
10/13 |
- |
1 |
X-37664278-TT-CG |
c.1171_1172delinsCG |
p.F391R |
Missense |
10/13 |
- |
1 |
X-37664278-TT-GA |
c.1171_1172delinsGA |
p.F391D |
Missense |
10/13 |
- |
1 |
X-37664278-TT-GC |
c.1171_1172delinsGC |
p.F391A |
Missense |
10/13 |
- |
1 |
X-37664278-TT-GG |
c.1171_1172delinsGG |
p.F391G |
Missense |
10/13 |
- |
1 |
X-37664278-TTT-AAG |
c.1171_1173delinsAAG |
p.F391K |
Missense |
10/13 |
- |
1 |
X-37664278-TTT-ATG |
c.1171_1173delinsATG |
p.F391M |
Missense |
10/13 |
- |
1 |
X-37664278-TTT-CAA |
c.1171_1173delinsCAA |
p.F391Q |
Missense |
10/13 |
- |
1 |
X-37664278-TTT-GAG |
c.1171_1173delinsGAG |
p.F391E |
Missense |
10/13 |
- |
1 |
X-37664280-T-A |
c.1173T>A |
p.F391L |
Missense |
10/13 |
- |
1 |
X-37664280-T-G |
c.1173T>G |
p.F391L |
Missense |
10/13 |
- |
1 |
X-37664279-T-A |
c.1172T>A |
p.F391Y |
Missense |
10/13 |
- |
1 |
X-37664279-T-C |
c.1172T>C |
p.F391S |
Missense |
10/13 |
- |
1 |
X-37664279-T-G |
c.1172T>G |
p.F391C |
Missense |
10/13 |
- |
1 |
X-37664279-TT-GG |
c.1172_1173delinsGG |
p.F391W |
Missense |
10/13 |
- |
1 |
X-37664280-T-C |
c.1173T>C |
p.F391= |
Synonymous |
10/13 |
- |
1 |
X-37664280-TTGGC-T |
c.1173_1176del |
p.F391Lfs*13 |
Frameshift |
10/13 |
- |
1 |
X-37664281-G-A |
c.1174G>A |
p.G392S |
Missense |
10/13 |
- |
1 |
X-37664281-G-C |
c.1174G>C |
p.G392R |
Missense |
10/13 |
- |
1 |
X-37664281-GG-AA |
c.1174_1175delinsAA |
p.G392N |
Missense |
10/13 |
- |
1 |
X-37664281-GG-AC |
c.1174_1175delinsAC |
p.G392T |
Missense |
10/13 |
- |
1 |
X-37664281-GG-AT |
c.1174_1175delinsAT |
p.G392I |
Missense |
10/13 |
- |
1 |
X-37664281-GG-CA |
c.1174_1175delinsCA |
p.G392H |
Missense |
10/13 |
- |
1 |
X-37664281-GGC-AAG |
c.1174_1176delinsAAG |
p.G392K |
Missense |
10/13 |
- |
1 |
X-37664281-GGC-ATG |
c.1174_1176delinsATG |
p.G392M |
Missense |
10/13 |
- |
1 |
X-37664281-GG-CC |
c.1174_1175inv |
p.G392P |
Missense |
10/13 |
- |
1 |
X-37664281-GGC-CAA |
c.1174_1176delinsCAA |
p.G392Q |
Missense |
10/13 |
- |
1 |
X-37664281-GG-CT |
c.1174_1175delinsCT |
p.G392L |
Missense |
10/13 |
- |
1 |
X-37664281-GGC-TGG |
c.1174_1176delinsTGG |
p.G392W |
Missense |
10/13 |
- |
1 |
X-37664281-GG-TA |
c.1174_1175delinsTA |
p.G392Y |
Missense |
10/13 |
- |
1 |
X-37664281-GG-TT |
c.1174_1175delinsTT |
p.G392F |
Missense |
10/13 |
- |
1 |
X-37664281-G-T |
c.1174G>T |
p.G392C |
Missense |
10/13 |
- |
1 |
X-37664282-G-A |
c.1175G>A |
p.G392D |
Missense |
10/13 |
- |
1 |
X-37664282-G-C |
c.1175G>C |
p.G392A |
Missense |
10/13 |
- |
1 |
X-37664282-GC-AG |
c.1175_1176delinsAG |
p.G392E |
Missense |
10/13 |
- |
1 |
X-37664282-G-T |
c.1175G>T |
p.G392V |
Missense |
10/13 |
- |
1 |
X-37664284-A-C |
c.1177A>C |
p.T393P |
Missense |
10/13 |
- |
1 |
X-37664284-AC-CA |
c.1177_1178delinsCA |
p.T393H |
Missense |
10/13 |
- |
1 |
X-37664284-AC-CT |
c.1177_1178delinsCT |
p.T393L |
Missense |
10/13 |
- |
1 |
X-37664284-AC-GA |
c.1177_1178delinsGA |
p.T393D |
Missense |
10/13 |
- |
1 |
X-37664284-AC-GG |
c.1177_1178delinsGG |
p.T393G |
Missense |
10/13 |
- |
1 |
X-37664284-AC-GT |
c.1177_1178inv |
p.T393V |
Missense |
10/13 |
- |
1 |
X-37664284-AC-TA |
c.1177_1178delinsTA |
p.T393Y |
Missense |
10/13 |
- |
1 |
X-37664284-ACT-CAA |
c.1177_1179delinsCAA |
p.T393Q |
Missense |
10/13 |
- |
1 |
X-37664284-AC-TG |
c.1177_1178delinsTG |
p.T393C |
Missense |
10/13 |
- |
1 |
X-37664284-ACT-GAG |
c.1177_1179delinsGAG |
p.T393E |
Missense |
10/13 |
- |
1 |
X-37664284-AC-TT |
c.1177_1178delinsTT |
p.T393F |
Missense |
10/13 |
- |
1 |
X-37664284-ACT-TGG |
c.1177_1179delinsTGG |
p.T393W |
Missense |
10/13 |
- |
1 |
X-37664284-A-G |
c.1177A>G |
p.T393A |
Missense |
10/13 |
- |
1 |
X-37664284-CA-C |
c.1177del |
p.T393Lfs*12 |
Frameshift |
10/13 |
- |
2 |
X-37664284-A-T |
c.1177A>T |
p.T393S |
Missense |
10/13 |
- |
1 |
X-37664285-C-A |
c.1178C>A |
p.T393N |
Missense |
10/13 |
- |
1 |
X-37664285-C-G |
c.1178C>G |
p.T393S |
Missense |
10/13 |
- |
1 |
X-37664285-C-T |
c.1178C>T |
p.T393I |
Missense |
10/13 |
- |
1 |
X-37664285-CT-AG |
c.1178_1179inv |
p.T393K |
Missense |
10/13 |
- |
1 |
X-37664285-CT-GG |
c.1178_1179delinsGG |
p.T393R |
Missense |
10/13 |
- |
1 |
X-37664285-CT-TG |
c.1178_1179delinsTG |
p.T393M |
Missense |
10/13 |
- |
1 |
X-37664287-G-A |
c.1180G>A |
p.A394T |
Missense |
10/13 |
- |
1 |
X-37664287-G-C |
c.1180G>C |
p.A394P |
Missense |
10/13 |
- |
1 |
X-37664287-GC-AA |
c.1180_1181delinsAA |
p.A394N |
Missense |
10/13 |
- |
1 |
X-37664287-GC-AT |
c.1180_1181delinsAT |
p.A394I |
Missense |
10/13 |
- |
1 |
X-37664287-GC-CA |
c.1180_1181delinsCA |
p.A394H |
Missense |
10/13 |
- |
1 |
X-37664287-GCC-AAG |
c.1180_1182delinsAAG |
p.A394K |
Missense |
10/13 |
- |
1 |
X-37664287-GCC-ATG |
c.1180_1182delinsATG |
p.A394M |
Missense |
10/13 |
- |
2 |
X-37664287-GCC-CAA |
c.1180_1182delinsCAA |
p.A394Q |
Missense |
10/13 |
- |
1 |
X-37664287-GC-CG |
c.1180_1181delinsCG |
p.A394R |
Missense |
10/13 |
- |
1 |
X-37664287-GC-CT |
c.1180_1181delinsCT |
p.A394L |
Missense |
10/13 |
- |
1 |
X-37664287-GCC-TGG |
c.1180_1182delinsTGG |
p.A394W |
Missense |
10/13 |
- |
1 |
X-37664287-GC-TA |
c.1180_1181delinsTA |
p.A394Y |
Missense |
10/13 |
- |
1 |
X-37664287-GC-TG |
c.1180_1181delinsTG |
p.A394C |
Missense |
10/13 |
- |
1 |
X-37664287-GC-TT |
c.1180_1181delinsTT |
p.A394F |
Missense |
10/13 |
- |
1 |
X-37664287-G-T |
c.1180G>T |
p.A394S |
Missense |
10/13 |
- |
1 |
X-37664287-TGCC-T |
c.1180_1182del |
p.A394del |
InFrameDeletion |
10/13 |
- |
1 |
X-37664288-C-A |
c.1181C>A |
p.A394D |
Missense |
10/13 |
- |
1 |
X-37664288-CC-AG |
c.1181_1182delinsAG |
p.A394E |
Missense |
10/13 |
- |
1 |
X-37664288-C-G |
c.1181C>G |
p.A394G |
Missense |
10/13 |
- |
1 |
X-37664288-C-T |
c.1181C>T |
p.A394V |
Missense |
10/13 |
- |
2 |
X-37664290-A-G |
c.1183A>G |
p.S395G |
Missense |
10/13 |
- |
1 |
X-37664290-AG-CA |
c.1183_1184delinsCA |
p.S395H |
Missense |
10/13 |
- |
1 |
X-37664290-AG-CC |
c.1183_1184delinsCC |
p.S395P |
Missense |
10/13 |
- |
1 |
X-37664290-AG-CT |
c.1183_1184inv |
p.S395L |
Missense |
10/13 |
- |
1 |
X-37664290-AG-GA |
c.1183_1184delinsGA |
p.S395D |
Missense |
10/13 |
- |
1 |
X-37664290-AG-GC |
c.1183_1184delinsGC |
p.S395A |
Missense |
10/13 |
- |
3 |
X-37664290-AG-GT |
c.1183_1184delinsGT |
p.S395V |
Missense |
10/13 |
- |
1 |
X-37664290-AG-TA |
c.1183_1184delinsTA |
p.S395Y |
Missense |
10/13 |
- |
1 |
X-37664290-AGT-CAA |
c.1183_1185delinsCAA |
p.S395Q |
Missense |
10/13 |
- |
1 |
X-37664290-AGT-GAG |
c.1183_1185delinsGAG |
p.S395E |
Missense |
10/13 |
- |
1 |
X-37664290-AG-TT |
c.1183_1184delinsTT |
p.S395F |
Missense |
10/13 |
- |
1 |
X-37664290-AGT-TGG |
c.1183_1185delinsTGG |
p.S395W |
Missense |
10/13 |
- |
1 |
X-37664290-A-T |
c.1183A>T |
p.S395C |
Missense |
10/13 |
- |
1 |
X-37664291-G-A |
c.1184G>A |
p.S395N |
Missense |
10/13 |
- |
1 |
X-37664291-G-C |
c.1184G>C |
p.S395T |
Missense |
10/13 |
- |
1 |
X-37664291-G-T |
c.1184G>T |
p.S395I |
Missense |
10/13 |
- |
1 |
X-37664291-GT-AG |
c.1184_1185delinsAG |
p.S395K |
Missense |
10/13 |
- |
1 |
X-37664291-GT-TG |
c.1184_1185delinsTG |
p.S395M |
Missense |
10/13 |
- |
1 |
X-37664290-A-C |
c.1183A>C |
p.S395R |
Missense |
10/13 |
- |
1 |
X-37664292-T-A |
c.1185T>A |
p.S395R |
Missense |
10/13 |
- |
1 |
X-37664292-T-G |
c.1185T>G |
p.S395R |
Missense |
10/13 |
- |
1 |
X-37664293-G-A |
c.1186G>A |
p.E396K |
Missense |
10/13 |
- |
1 |
X-37664293-GAA-AAC |
c.1186_1188delinsAAC |
p.E396N |
Missense |
10/13 |
- |
1 |
X-37664293-GAA-ATG |
c.1186_1188delinsATG |
p.E396M |
Missense |
10/13 |
- |
1 |
X-37664293-GA-AC |
c.1186_1187delinsAC |
p.E396T |
Missense |
10/13 |
- |
1 |
X-37664293-GAA-CAT |
c.1186_1188delinsCAT |
p.E396H |
Missense |
10/13 |
- |
1 |
X-37664293-GA-AG |
c.1186_1187delinsAG |
p.E396R |
Missense |
10/13 |
- |
1 |
X-37664293-GA-AT |
c.1186_1187delinsAT |
p.E396I |
Missense |
10/13 |
- |
1 |
X-37664293-GAA-TAT |
c.1186_1188delinsTAT |
p.E396Y |
Missense |
10/13 |
- |
1 |
X-37664293-GAA-TGG |
c.1186_1188delinsTGG |
p.E396W |
Missense |
10/13 |
- |
1 |
X-37664293-GAA-TGT |
c.1186_1188delinsTGT |
p.E396C |
Missense |
10/13 |
- |
1 |
X-37664293-GAA-TTT |
c.1186_1188delinsTTT |
p.E396F |
Missense |
10/13 |
- |
1 |
X-37664293-GA-CC |
c.1186_1187delinsCC |
p.E396P |
Missense |
10/13 |
- |
1 |
X-37664293-GA-CT |
c.1186_1187delinsCT |
p.E396L |
Missense |
10/13 |
- |
1 |
X-37664293-GA-TC |
c.1186_1187inv |
p.E396S |
Missense |
10/13 |
- |
1 |
X-37664293-G-C |
c.1186G>C |
p.E396Q |
Missense |
10/13 |
- |
1 |
X-37664294-A-C |
c.1187A>C |
p.E396A |
Missense |
10/13 |
- |
1 |
X-37664294-A-G |
c.1187A>G |
p.E396G |
Missense |
10/13 |
- |
1 |
X-37664294-A-T |
c.1187A>T |
p.E396V |
Missense |
10/13 |
- |
1 |
X-37664295-A-C |
c.1188A>C |
p.E396D |
Missense |
10/13 |
- |
1 |
X-37664295-A-T |
c.1188A>T |
p.E396D |
Missense |
10/13 |
- |
1 |
X-37664296-G-A |
c.1189G>A |
p.D397N |
Missense |
10/13 |
- |
1 |
X-37664296-GA-AC |
c.1189_1190delinsAC |
p.D397T |
Missense |
10/13 |
- |
1 |
X-37664296-GA-AG |
c.1189_1190delinsAG |
p.D397S |
Missense |
10/13 |
- |
1 |
X-37664296-GA-AT |
c.1189_1190delinsAT |
p.D397I |
Missense |
10/13 |
- |
1 |
X-37664296-GA-CC |
c.1189_1190delinsCC |
p.D397P |
Missense |
10/13 |
- |
1 |
X-37664296-GA-CG |
c.1189_1190delinsCG |
p.D397R |
Missense |
10/13 |
- |
1 |
X-37664296-GA-CT |
c.1189_1190delinsCT |
p.D397L |
Missense |
10/13 |
- |
1 |
X-37664296-GAT-AAG |
c.1189_1191delinsAAG |
p.D397K |
Missense |
10/13 |
- |
1 |
X-37664296-GAT-ATG |
c.1189_1191delinsATG |
p.D397M |
Missense |
10/13 |
- |
1 |
X-37664296-GAT-CAA |
c.1189_1191delinsCAA |
p.D397Q |
Missense |
10/13 |
- |
1 |
X-37664296-GA-TG |
c.1189_1190delinsTG |
p.D397C |
Missense |
10/13 |
- |
1 |
X-37664296-GA-TT |
c.1189_1190delinsTT |
p.D397F |
Missense |
10/13 |
- |
1 |
X-37664296-GAT-TGG |
c.1189_1191delinsTGG |
p.D397W |
Missense |
10/13 |
- |
1 |
X-37664296-G-C |
c.1189G>C |
p.D397H |
Missense |
10/13 |
- |
2 |
X-37664296-G-T |
c.1189G>T |
p.D397Y |
Missense |
10/13 |
- |
1 |
X-37664297-A-C |
c.1190A>C |
p.D397A |
Missense |
10/13 |
- |
1 |
X-37664297-A-G |
c.1190A>G |
p.D397G |
Missense |
10/13 |
- |
1 |
X-37664297-A-T |
c.1190A>T |
p.D397V |
Missense |
10/13 |
- |
1 |
X-37664297-GAT-G |
c.1190_1191del |
p.D397Gfs*5 |
Frameshift |
10/13 |
- |
1 |
X-37664298-T-A |
c.1191T>A |
p.D397E |
Missense |
10/13 |
- |
1 |
X-37664298-T-G |
c.1191T>G |
p.D397E |
Missense |
10/13 |
- |
1 |
X-37664299-G-A |
c.1192G>A |
p.V398M |
Missense |
10/13 |
- |
1 |
X-37664299-G-C |
c.1192G>C |
p.V398L |
Missense |
10/13 |
- |
1 |
X-37664299-G-T |
c.1192G>T |
p.V398L |
Missense |
10/13 |
- |
1 |
X-37664299-GT-AA |
c.1192_1193delinsAA |
p.V398K |
Missense |
10/13 |
- |
1 |
X-37664299-GT-AC |
c.1192_1193inv |
p.V398T |
Missense |
10/13 |
- |
1 |
X-37664299-GT-AG |
c.1192_1193delinsAG |
p.V398R |
Missense |
10/13 |
- |
1 |
X-37664299-GT-CA |
c.1192_1193delinsCA |
p.V398Q |
Missense |
10/13 |
- |
1 |
X-37664299-GT-CC |
c.1192_1193delinsCC |
p.V398P |
Missense |
10/13 |
- |
1 |
X-37664299-GTG-AAC |
c.1192_1194delinsAAC |
p.V398N |
Missense |
10/13 |
- |
1 |
X-37664299-GTG-ATC |
c.1192_1194delinsATC |
p.V398I |
Missense |
10/13 |
- |
2 |
X-37664299-GTG-CAT |
c.1192_1194delinsCAT |
p.V398H |
Missense |
10/13 |
- |
1 |
X-37664299-GTG-TAT |
c.1192_1194delinsTAT |
p.V398Y |
Missense |
10/13 |
- |
1 |
X-37664299-GTG-TGT |
c.1192_1194delinsTGT |
p.V398C |
Missense |
10/13 |
- |
1 |
X-37664299-GTG-TTT |
c.1192_1194delinsTTT |
p.V398F |
Missense |
10/13 |
- |
1 |
X-37664299-GT-TC |
c.1192_1193delinsTC |
p.V398S |
Missense |
10/13 |
- |
1 |
X-37664299-GT-TG |
c.1192_1193delinsTG |
p.V398W |
Missense |
10/13 |
- |
1 |
X-37664300-T-A |
c.1193T>A |
p.V398E |
Missense |
10/13 |
- |
1 |
X-37664300-T-C |
c.1193T>C |
p.V398A |
Missense |
10/13 |
- |
1 |
X-37664300-T-G |
c.1193T>G |
p.V398G |
Missense |
10/13 |
- |
1 |
X-37664300-TG-AC |
c.1193_1194delinsAC |
p.V398D |
Missense |
10/13 |
- |
1 |
X-37664301-G-A |
c.1194G>A |
p.V398= |
Synonymous |
10/13 |
- |
1 |
X-37664301-G-C |
c.1194G>C |
p.V398= |
Synonymous |
10/13 |
- |
1 |
X-37664301-G-T |
c.1194G>T |
p.V398= |
Synonymous |
10/13 |
- |
1 |
X-37664302-T-A |
c.1195T>A |
p.F399I |
Missense |
10/13 |
- |
1 |
X-37664302-T-C |
c.1195T>C |
p.F399L |
Missense |
10/13 |
- |
1 |
X-37664302-T-G |
c.1195T>G |
p.F399V |
Missense |
10/13 |
- |
1 |
X-37664302-TT-AA |
c.1195_1196inv |
p.F399N |
Missense |
10/13 |
- |
1 |
X-37664302-TT-AC |
c.1195_1196delinsAC |
p.F399T |
Missense |
10/13 |
- |
1 |
X-37664302-TT-CA |
c.1195_1196delinsCA |
p.F399H |
Missense |
10/13 |
- |
1 |
X-37664302-TTC-AAG |
c.1195_1197delinsAAG |
p.F399K |
Missense |
10/13 |
- |
1 |
X-37664302-TTC-ATG |
c.1195_1197delinsATG |
p.F399M |
Missense |
10/13 |
- |
1 |
X-37664302-TT-CC |
c.1195_1196delinsCC |
p.F399P |
Missense |
10/13 |
- |
1 |
X-37664302-TTC-CAA |
c.1195_1197delinsCAA |
p.F399Q |
Missense |
10/13 |
- |
1 |
X-37664302-TT-CG |
c.1195_1196delinsCG |
p.F399R |
Missense |
10/13 |
- |
1 |
X-37664302-TTC-GAG |
c.1195_1197delinsGAG |
p.F399E |
Missense |
10/13 |
- |
1 |
X-37664302-TT-GA |
c.1195_1196delinsGA |
p.F399D |
Missense |
10/13 |
- |
1 |
X-37664302-TT-GC |
c.1195_1196delinsGC |
p.F399A |
Missense |
10/13 |
- |
1 |
X-37664302-TT-GG |
c.1195_1196delinsGG |
p.F399G |
Missense |
10/13 |
- |
1 |
X-37664304-C-A |
c.1197C>A |
p.F399L |
Missense |
10/13 |
- |
1 |
X-37664304-C-G |
c.1197C>G |
p.F399L |
Missense |
10/13 |
- |
1 |
X-37664303-T-A |
c.1196T>A |
p.F399Y |
Missense |
10/13 |
- |
1 |
X-37664303-T-C |
c.1196T>C |
p.F399S |
Missense |
10/13 |
- |
1 |
X-37664303-TC-GG |
c.1196_1197delinsGG |
p.F399W |
Missense |
10/13 |
- |
1 |
X-37664303-T-G |
c.1196T>G |
p.F399C |
Missense |
10/13 |
- |
1 |
X-37664305-A-G |
c.1198A>G |
p.S400G |
Missense |
10/13 |
- |
1 |
X-37664305-AG-CA |
c.1198_1199delinsCA |
p.S400H |
Missense |
10/13 |
- |
1 |
X-37664305-AG-CC |
c.1198_1199delinsCC |
p.S400P |
Missense |
10/13 |
- |
1 |
X-37664305-AGC-CAA |
c.1198_1200delinsCAA |
p.S400Q |
Missense |
10/13 |
- |
1 |
X-37664305-AGC-GAG |
c.1198_1200delinsGAG |
p.S400E |
Missense |
10/13 |
- |
1 |
X-37664305-AG-CT |
c.1198_1199inv |
p.S400L |
Missense |
10/13 |
- |
1 |
X-37664305-AGC-TGG |
c.1198_1200delinsTGG |
p.S400W |
Missense |
10/13 |
- |
1 |
X-37664305-AG-GA |
c.1198_1199delinsGA |
p.S400D |
Missense |
10/13 |
- |
1 |
X-37664305-AG-GC |
c.1198_1199delinsGC |
p.S400A |
Missense |
10/13 |
- |
1 |
X-37664305-AG-GT |
c.1198_1199delinsGT |
p.S400V |
Missense |
10/13 |
- |
1 |
X-37664305-AG-TA |
c.1198_1199delinsTA |
p.S400Y |
Missense |
10/13 |
- |
1 |
X-37664305-AG-TT |
c.1198_1199delinsTT |
p.S400F |
Missense |
10/13 |
- |
1 |
X-37664305-A-T |
c.1198A>T |
p.S400C |
Missense |
10/13 |
- |
1 |
X-37664306-G-A |
c.1199G>A |
p.S400N |
Missense |
10/13 |
- |
1 |
X-37664306-G-C |
c.1199G>C |
p.S400T |
Missense |
10/13 |
- |
1 |
X-37664306-GC-AG |
c.1199_1200delinsAG |
p.S400K |
Missense |
10/13 |
- |
1 |
X-37664306-GC-TG |
c.1199_1200delinsTG |
p.S400M |
Missense |
10/13 |
- |
1 |
X-37664306-G-T |
c.1199G>T |
p.S400I |
Missense |
10/13 |
- |
1 |
X-37664305-A-C |
c.1198A>C |
p.S400R |
Missense |
10/13 |
- |
1 |
X-37664307-C-A |
c.1200C>A |
p.S400R |
Missense |
10/13 |
- |
1 |
X-37664307-C-G |
c.1200C>G |
p.S400R |
Missense |
10/13 |
- |
1 |
X-37664307-C-T |
c.1200C>T |
p.S400= |
Synonymous |
10/13 |
- |
1 |
X-37664308-T-A |
c.1201T>A |
p.Y401N |
Missense |
10/13 |
- |
1 |
X-37664308-TA-AC |
c.1201_1202delinsAC |
p.Y401T |
Missense |
10/13 |
- |
1 |
X-37664308-TA-AT |
c.1201_1202delinsAT |
p.Y401I |
Missense |
10/13 |
- |
1 |
X-37664308-TA-CC |
c.1201_1202delinsCC |
p.Y401P |
Missense |
10/13 |
- |
1 |
X-37664308-TA-CG |
c.1201_1202delinsCG |
p.Y401R |
Missense |
10/13 |
- |
1 |
X-37664308-TA-CT |
c.1201_1202delinsCT |
p.Y401L |
Missense |
10/13 |
- |
1 |
X-37664308-TA-GC |
c.1201_1202delinsGC |
p.Y401A |
Missense |
10/13 |
- |
1 |
X-37664308-TA-GG |
c.1201_1202delinsGG |
p.Y401G |
Missense |
10/13 |
- |
1 |
X-37664308-TA-GT |
c.1201_1202delinsGT |
p.Y401V |
Missense |
10/13 |
- |
1 |
X-37664308-TAT-AAG |
c.1201_1203delinsAAG |
p.Y401K |
Missense |
10/13 |
- |
1 |
X-37664308-TAT-ATG |
c.1201_1203delinsATG |
p.Y401M |
Missense |
10/13 |
- |
1 |
X-37664308-TAT-CAA |
c.1201_1203delinsCAA |
p.Y401Q |
Missense |
10/13 |
- |
1 |
X-37664308-TAT-GAG |
c.1201_1203delinsGAG |
p.Y401E |
Missense |
10/13 |
- |
1 |
X-37664308-T-C |
c.1201T>C |
p.Y401H |
Missense |
10/13 |
- |
1 |
X-37664308-T-G |
c.1201T>G |
p.Y401D |
Missense |
10/13 |
- |
1 |
X-37664309-A-C |
c.1202A>C |
p.Y401S |
Missense |
10/13 |
- |
1 |
X-37664309-A-G |
c.1202A>G |
p.Y401C |
Missense |
10/13 |
- |
1 |
X-37664309-A-T |
c.1202A>T |
p.Y401F |
Missense |
10/13 |
- |
1 |
X-37664309-AT-GG |
c.1202_1203delinsGG |
p.Y401W |
Missense |
10/13 |
- |
1 |
X-37664311-G-A |
c.1204G>A |
p.E402K |
Missense |
10/13 |
- |
1 |
X-37664311-GA-AC |
c.1204_1205delinsAC |
p.E402T |
Missense |
10/13 |
- |
1 |
X-37664311-GA-AG |
c.1204_1205delinsAG |
p.E402R |
Missense |
10/13 |
- |
1 |
X-37664311-GA-AT |
c.1204_1205delinsAT |
p.E402M |
Missense |
10/13 |
- |
1 |
X-37664311-GA-CC |
c.1204_1205delinsCC |
p.E402P |
Missense |
10/13 |
- |
1 |
X-37664311-GA-CT |
c.1204_1205delinsCT |
p.E402L |
Missense |
10/13 |
- |
1 |
X-37664311-GAG-AAC |
c.1204_1206delinsAAC |
p.E402N |
Missense |
10/13 |
- |
1 |
X-37664311-GAG-ATC |
c.1204_1206delinsATC |
p.E402I |
Missense |
10/13 |
- |
1 |
X-37664311-GAG-CAT |
c.1204_1206delinsCAT |
p.E402H |
Missense |
10/13 |
- |
1 |
X-37664311-GAG-TAT |
c.1204_1206delinsTAT |
p.E402Y |
Missense |
10/13 |
- |
1 |
X-37664311-GAG-TGT |
c.1204_1206delinsTGT |
p.E402C |
Missense |
10/13 |
- |
1 |
X-37664311-GAG-TTT |
c.1204_1206delinsTTT |
p.E402F |
Missense |
10/13 |
- |
1 |
X-37664311-GA-TC |
c.1204_1205inv |
p.E402S |
Missense |
10/13 |
- |
1 |
X-37664311-GA-TG |
c.1204_1205delinsTG |
p.E402W |
Missense |
10/13 |
- |
1 |
X-37664311-G-C |
c.1204G>C |
p.E402Q |
Missense |
10/13 |
- |
1 |
X-37664312-A-C |
c.1205A>C |
p.E402A |
Missense |
10/13 |
- |
1 |
X-37664312-A-G |
c.1205A>G |
p.E402G |
Missense |
10/13 |
- |
1 |
X-37664312-A-T |
c.1205A>T |
p.E402V |
Missense |
10/13 |
- |
1 |
X-37664313-G-A |
c.1206G>A |
p.E402= |
Synonymous |
10/13 |
- |
2 |
X-37664313-G-C |
c.1206G>C |
p.E402D |
Missense |
10/13 |
- |
1 |
X-37664313-G-T |
c.1206G>T |
p.E402D |
Missense |
10/13 |
- |
1 |
X-37664313-G-GGGT |
c.1207_1208insGTG |
p.E402_V403insG |
InFrameInsertion |
10/13 |
- |
1 |
X-37664314-G-A |
c.1207G>A |
p.V403M |
Missense |
10/13 |
- |
1 |
X-37664314-G-C |
c.1207G>C |
p.V403L |
Missense |
10/13 |
- |
1 |
X-37664314-G-T |
c.1207G>T |
p.V403L |
Missense |
10/13 |
- |
1 |
X-37664314-GT-AA |
c.1207_1208delinsAA |
p.V403K |
Missense |
10/13 |
- |
1 |
X-37664314-GT-AC |
c.1207_1208inv |
p.V403T |
Missense |
10/13 |
- |
1 |
X-37664314-GT-AG |
c.1207_1208delinsAG |
p.V403R |
Missense |
10/13 |
- |
1 |
X-37664314-GT-CA |
c.1207_1208delinsCA |
p.V403Q |
Missense |
10/13 |
- |
1 |
X-37664314-GT-CC |
c.1207_1208delinsCC |
p.V403P |
Missense |
10/13 |
- |
1 |
X-37664314-GTG-AAC |
c.1207_1209delinsAAC |
p.V403N |
Missense |
10/13 |
- |
1 |
X-37664314-GTG-ATC |
c.1207_1209delinsATC |
p.V403I |
Missense |
10/13 |
- |
1 |
X-37664314-GTG-CAT |
c.1207_1209delinsCAT |
p.V403H |
Missense |
10/13 |
- |
1 |
X-37664314-GTG-TAT |
c.1207_1209delinsTAT |
p.V403Y |
Missense |
10/13 |
- |
1 |
X-37664314-GTG-TGT |
c.1207_1209delinsTGT |
p.V403C |
Missense |
10/13 |
- |
1 |
X-37664314-GTG-TTT |
c.1207_1209delinsTTT |
p.V403F |
Missense |
10/13 |
- |
1 |
X-37664314-GT-TC |
c.1207_1208delinsTC |
p.V403S |
Missense |
10/13 |
- |
1 |
X-37664314-GT-TG |
c.1207_1208delinsTG |
p.V403W |
Missense |
10/13 |
- |
1 |
X-37664315-T-A |
c.1208T>A |
p.V403E |
Missense |
10/13 |
- |
1 |
X-37664315-T-C |
c.1208T>C |
p.V403A |
Missense |
10/13 |
- |
1 |
X-37664315-T-G |
c.1208T>G |
p.V403G |
Missense |
10/13 |
- |
1 |
X-37664315-TG-AC |
c.1208_1209delinsAC |
p.V403D |
Missense |
10/13 |
- |
1 |
X-37664317-G-A |
c.1210G>A |
p.V404M |
Missense |
10/13 |
- |
1 |
X-37664317-G-C |
c.1210G>C |
p.V404L |
Missense |
10/13 |
- |
1 |
X-37664317-G-T |
c.1210G>T |
p.V404L |
Missense |
10/13 |
- |
1 |
X-37664317-GT-AA |
c.1210_1211delinsAA |
p.V404K |
Missense |
10/13 |
- |
1 |
X-37664317-GT-AC |
c.1210_1211inv |
p.V404T |
Missense |
10/13 |
- |
1 |
X-37664317-GT-AG |
c.1210_1211delinsAG |
p.V404R |
Missense |
10/13 |
- |
1 |
X-37664317-GT-CA |
c.1210_1211delinsCA |
p.V404Q |
Missense |
10/13 |
- |
1 |
X-37664317-GT-CC |
c.1210_1211delinsCC |
p.V404P |
Missense |
10/13 |
- |
1 |
X-37664317-GTG-AAC |
c.1210_1212delinsAAC |
p.V404N |
Missense |
10/13 |
- |
1 |
X-37664317-GTG-ATC |
c.1210_1212delinsATC |
p.V404I |
Missense |
10/13 |
- |
1 |
X-37664317-GTG-CAT |
c.1210_1212delinsCAT |
p.V404H |
Missense |
10/13 |
- |
1 |
X-37664317-GTG-TAT |
c.1210_1212delinsTAT |
p.V404Y |
Missense |
10/13 |
- |
1 |
X-37664317-GTG-TGT |
c.1210_1212delinsTGT |
p.V404C |
Missense |
10/13 |
- |
1 |
X-37664317-GTG-TTT |
c.1210_1212delinsTTT |
p.V404F |
Missense |
10/13 |
- |
1 |
X-37664317-GT-TC |
c.1210_1211delinsTC |
p.V404S |
Missense |
10/13 |
- |
1 |
X-37664317-GT-TG |
c.1210_1211delinsTG |
p.V404W |
Missense |
10/13 |
- |
1 |
X-37664318-T-A |
c.1211T>A |
p.V404E |
Missense |
10/13 |
- |
1 |
X-37664318-T-C |
c.1211T>C |
p.V404A |
Missense |
10/13 |
- |
1 |
X-37664318-T-G |
c.1211T>G |
p.V404G |
Missense |
10/13 |
- |
1 |
X-37664318-TG-AC |
c.1211_1212delinsAC |
p.V404D |
Missense |
10/13 |
- |
1 |
X-37664319-TG-T |
c.1212del |
p.M405Cfs*2 |
Frameshift |
10/13 |
- |
1 |
X-37664320-A-C |
c.1213A>C |
p.M405L |
Missense |
10/13 |
- |
1 |
X-37664320-A-G |
c.1213A>G |
p.M405V |
Missense |
10/13 |
- |
1 |
X-37664320-A-T |
c.1213A>T |
p.M405L |
Missense |
10/13 |
- |
1 |
X-37664320-AT-CA |
c.1213_1214delinsCA |
p.M405Q |
Missense |
10/13 |
- |
1 |
X-37664320-AT-CC |
c.1213_1214delinsCC |
p.M405P |
Missense |
10/13 |
- |
1 |
X-37664320-AT-GA |
c.1213_1214delinsGA |
p.M405E |
Missense |
10/13 |
- |
1 |
X-37664320-AT-GC |
c.1213_1214delinsGC |
p.M405A |
Missense |
10/13 |
- |
1 |
X-37664320-ATG-CAT |
c.1213_1215inv |
p.M405H |
Missense |
10/13 |
- |
1 |
X-37664320-AT-GG |
c.1213_1214delinsGG |
p.M405G |
Missense |
10/13 |
- |
1 |
X-37664320-ATG-GAC |
c.1213_1215delinsGAC |
p.M405D |
Missense |
10/13 |
- |
1 |
X-37664320-ATG-TAT |
c.1213_1215delinsTAT |
p.M405Y |
Missense |
10/13 |
- |
1 |
X-37664320-ATG-TGT |
c.1213_1215delinsTGT |
p.M405C |
Missense |
10/13 |
- |
1 |
X-37664320-ATG-TTT |
c.1213_1215delinsTTT |
p.M405F |
Missense |
10/13 |
- |
1 |
X-37664320-AT-TG |
c.1213_1214delinsTG |
p.M405W |
Missense |
10/13 |
- |
1 |
X-37664321-T-A |
c.1214T>A |
p.M405K |
Missense |
10/13 |
- |
3 |
X-37664321-T-C |
c.1214T>C |
p.M405T |
Missense |
10/13 |
- |
1 |
X-37664321-T-G |
c.1214T>G |
p.M405R |
Missense |
10/13 |
- |
6 |
X-37664321-TG-AC |
c.1214_1215delinsAC |
p.M405N |
Missense |
10/13 |
- |
1 |
X-37664321-TG-GC |
c.1214_1215delinsGC |
p.M405S |
Missense |
10/13 |
- |
1 |
X-37664322-G-A |
c.1215G>A |
p.M405I |
Missense |
10/13 |
- |
1 |
X-37664322-G-C |
c.1215G>C |
p.M405I |
Missense |
10/13 |
- |
1 |
X-37664322-G-T |
c.1215G>T |
p.M405I |
Missense |
10/13 |
- |
1 |
X-37664323-T-A |
c.1216T>A |
p.L406I |
Missense |
10/13 |
- |
1 |
X-37664323-T-G |
c.1216T>G |
p.L406V |
Missense |
10/13 |
- |
1 |
X-37664323-TT-AA |
c.1216_1217inv |
p.L406K |
Missense |
10/13 |
- |
1 |
X-37664323-TTA-AAC |
c.1216_1218delinsAAC |
p.L406N |
Missense |
10/13 |
- |
1 |
X-37664323-TTA-ATG |
c.1216_1218delinsATG |
p.L406M |
Missense |
10/13 |
- |
1 |
X-37664323-TT-AC |
c.1216_1217delinsAC |
p.L406T |
Missense |
10/13 |
- |
1 |
X-37664323-TTA-CAT |
c.1216_1218delinsCAT |
p.L406H |
Missense |
10/13 |
- |
1 |
X-37664323-TT-AG |
c.1216_1217delinsAG |
p.L406R |
Missense |
10/13 |
- |
1 |
X-37664323-TTA-GAC |
c.1216_1218delinsGAC |
p.L406D |
Missense |
10/13 |
- |
1 |
X-37664323-TT-CA |
c.1216_1217delinsCA |
p.L406Q |
Missense |
10/13 |
- |
1 |
X-37664323-TT-CC |
c.1216_1217delinsCC |
p.L406P |
Missense |
10/13 |
- |
1 |
X-37664323-TT-GA |
c.1216_1217delinsGA |
p.L406E |
Missense |
10/13 |
- |
1 |
X-37664323-TT-GC |
c.1216_1217delinsGC |
p.L406A |
Missense |
10/13 |
- |
1 |
X-37664323-TT-GG |
c.1216_1217delinsGG |
p.L406G |
Missense |
10/13 |
- |
1 |
X-37664324-T-A |
c.1217T>A |
p.L406* |
Nonsense |
10/13 |
- |
1 |
X-37664324-TA-AT |
c.1217_1218delinsAT |
p.L406Y |
Missense |
10/13 |
- |
1 |
X-37664324-TA-GG |
c.1217_1218delinsGG |
p.L406W |
Missense |
10/13 |
- |
1 |
X-37664324-TA-GT |
c.1217_1218delinsGT |
p.L406C |
Missense |
10/13 |
- |
1 |
X-37664324-T-C |
c.1217T>C |
p.L406S |
Missense |
10/13 |
- |
1 |
X-37664325-A-C |
c.1218A>C |
p.L406F |
Missense |
10/13 |
- |
1 |
X-37664325-A-T |
c.1218A>T |
p.L406F |
Missense |
10/13 |
- |
1 |
X-37664326-G-A |
c.1219G>A |
p.V407M |
Missense |
10/13 |
- |
1 |
X-37664326-G-C |
c.1219G>C |
p.V407L |
Missense |
10/13 |
- |
1 |
X-37664326-G-T |
c.1219G>T |
p.V407L |
Missense |
10/13 |
- |
1 |
X-37664326-GT-AA |
c.1219_1220delinsAA |
p.V407K |
Missense |
10/13 |
- |
1 |
X-37664326-GT-AC |
c.1219_1220inv |
p.V407T |
Missense |
10/13 |
- |
1 |
X-37664326-GT-AG |
c.1219_1220delinsAG |
p.V407R |
Missense |
10/13 |
- |
1 |
X-37664326-GT-CA |
c.1219_1220delinsCA |
p.V407Q |
Missense |
10/13 |
- |
1 |
X-37664326-GT-CC |
c.1219_1220delinsCC |
p.V407P |
Missense |
10/13 |
- |
1 |
X-37664326-GTG-AAC |
c.1219_1221delinsAAC |
p.V407N |
Missense |
10/13 |
- |
1 |
X-37664326-GTG-ATC |
c.1219_1221delinsATC |
p.V407I |
Missense |
10/13 |
- |
1 |
X-37664326-GTG-CAT |
c.1219_1221delinsCAT |
p.V407H |
Missense |
10/13 |
- |
1 |
X-37664326-GTG-TAT |
c.1219_1221delinsTAT |
p.V407Y |
Missense |
10/13 |
- |
1 |
X-37664326-GTG-TGT |
c.1219_1221delinsTGT |
p.V407C |
Missense |
10/13 |
- |
1 |
X-37664326-GTG-TTT |
c.1219_1221delinsTTT |
p.V407F |
Missense |
10/13 |
- |
1 |
X-37664326-GT-TC |
c.1219_1220delinsTC |
p.V407S |
Missense |
10/13 |
- |
1 |
X-37664326-GT-TG |
c.1219_1220delinsTG |
p.V407W |
Missense |
10/13 |
- |
1 |
X-37664327-T-A |
c.1220T>A |
p.V407E |
Missense |
10/13 |
- |
1 |
X-37664327-T-C |
c.1220T>C |
p.V407A |
Missense |
10/13 |
- |
3 |
X-37664327-T-G |
c.1220T>G |
p.V407G |
Missense |
10/13 |
- |
1 |
X-37664327-TG-AC |
c.1220_1221delinsAC |
p.V407D |
Missense |
10/13 |
- |
1 |
X-37664329-G-A |
c.1222G>A |
p.G408R |
Missense |
10/13 |
- |
10 |
X-37664329-G-C |
c.1222G>C |
p.G408R |
Missense |
10/13 |
- |
7 |
X-37664329-GG-AA |
c.1222_1223delinsAA |
p.G408K |
Missense |
10/13 |
- |
1 |
X-37664329-GGA-AAC |
c.1222_1224delinsAAC |
p.G408N |
Missense |
10/13 |
- |
1 |
X-37664329-GGA-AGC |
c.1222_1224delinsAGC |
p.G408S |
Missense |
10/13 |
- |
1 |
X-37664329-GGA-ATG |
c.1222_1224delinsATG |
p.G408M |
Missense |
10/13 |
- |
1 |
X-37664329-GG-AC |
c.1222_1223delinsAC |
p.G408T |
Missense |
10/13 |
- |
1 |
X-37664329-GGA-CAT |
c.1222_1224delinsCAT |
p.G408H |
Missense |
10/13 |
- |
1 |
X-37664329-GG-AT |
c.1222_1223delinsAT |
p.G408I |
Missense |
10/13 |
- |
1 |
X-37664329-GGA-TAT |
c.1222_1224delinsTAT |
p.G408Y |
Missense |
10/13 |
- |
1 |
X-37664329-GGA-TGG |
c.1222_1224delinsTGG |
p.G408W |
Missense |
10/13 |
- |
1 |
X-37664329-GGA-TGT |
c.1222_1224delinsTGT |
p.G408C |
Missense |
10/13 |
- |
1 |
X-37664329-GGA-TTT |
c.1222_1224delinsTTT |
p.G408F |
Missense |
10/13 |
- |
1 |
X-37664329-GG-CA |
c.1222_1223delinsCA |
p.G408Q |
Missense |
10/13 |
- |
1 |
X-37664329-GG-CC |
c.1222_1223inv |
p.G408P |
Missense |
10/13 |
- |
1 |
X-37664329-GG-CT |
c.1222_1223delinsCT |
p.G408L |
Missense |
10/13 |
- |
1 |
X-37664330-G-A |
c.1223G>A |
p.G408E |
Missense |
10/13 |
- |
14 |
X-37664330-GA-AC |
c.1223_1224delinsAC |
p.G408D |
Missense |
10/13 |
- |
1 |
X-37664330-G-C |
c.1223G>C |
p.G408A |
Missense |
10/13 |
- |
1 |
X-37664330-G-T |
c.1223G>T |
p.G408V |
Missense |
10/13 |
- |
1 |
X-37664332-G-A |
c.1225G>A |
p.A409T |
Missense |
10/13 |
- |
2 |
X-37664332-G-C |
c.1225G>C |
p.A409P |
Missense |
10/13 |
- |
1 |
X-37664332-GC-AA |
c.1225_1226delinsAA |
p.A409K |
Missense |
10/13 |
- |
1 |
X-37664332-GCA-AAC |
c.1225_1227delinsAAC |
p.A409N |
Missense |
10/13 |
- |
1 |
X-37664332-GCA-ATG |
c.1225_1227delinsATG |
p.A409M |
Missense |
10/13 |
- |
1 |
X-37664332-GCA-CAT |
c.1225_1227delinsCAT |
p.A409H |
Missense |
10/13 |
- |
1 |
X-37664332-GC-AG |
c.1225_1226delinsAG |
p.A409R |
Missense |
10/13 |
- |
1 |
X-37664332-GC-AT |
c.1225_1226delinsAT |
p.A409I |
Missense |
10/13 |
- |
1 |
X-37664332-GCA-TAT |
c.1225_1227delinsTAT |
p.A409Y |
Missense |
10/13 |
- |
1 |
X-37664332-GCA-TGG |
c.1225_1227delinsTGG |
p.A409W |
Missense |
10/13 |
- |
1 |
X-37664332-GCA-TGT |
c.1225_1227delinsTGT |
p.A409C |
Missense |
10/13 |
- |
1 |
X-37664332-GCA-TTT |
c.1225_1227delinsTTT |
p.A409F |
Missense |
10/13 |
- |
1 |
X-37664332-GC-CA |
c.1225_1226delinsCA |
p.A409Q |
Missense |
10/13 |
- |
1 |
X-37664332-GC-CT |
c.1225_1226delinsCT |
p.A409L |
Missense |
10/13 |
- |
1 |
X-37664332-G-T |
c.1225G>T |
p.A409S |
Missense |
10/13 |
- |
1 |
X-37664333-C-A |
c.1226C>A |
p.A409E |
Missense |
10/13 |
- |
3 |
X-37664333-CA-AC |
c.1226_1227delinsAC |
p.A409D |
Missense |
10/13 |
- |
1 |
X-37664333-C-G |
c.1226C>G |
p.A409G |
Missense |
10/13 |
- |
1 |
X-37664333-C-T |
c.1226C>T |
p.A409V |
Missense |
10/13 |
- |
1 |
X-37664335-G-A |
c.1228G>A |
p.G410R |
Missense |
10/13 |
- |
1 |
X-37664335-G-C |
c.1228G>C |
p.G410R |
Missense |
10/13 |
- |
1 |
X-37664335-GG-AA |
c.1228_1229delinsAA |
p.G410K |
Missense |
10/13 |
- |
1 |
X-37664335-GG-AC |
c.1228_1229delinsAC |
p.G410T |
Missense |
10/13 |
- |
1 |
X-37664335-GG-AT |
c.1228_1229delinsAT |
p.G410M |
Missense |
10/13 |
- |
1 |
X-37664335-GG-CA |
c.1228_1229delinsCA |
p.G410Q |
Missense |
10/13 |
- |
1 |
X-37664335-GG-CC |
c.1228_1229inv |
p.G410P |
Missense |
10/13 |
- |
1 |
X-37664335-GG-CT |
c.1228_1229delinsCT |
p.G410L |
Missense |
10/13 |
- |
1 |
X-37664335-GGG-AAC |
c.1228_1230delinsAAC |
p.G410N |
Missense |
10/13 |
- |
1 |
X-37664335-GGG-AGC |
c.1228_1230delinsAGC |
p.G410S |
Missense |
10/13 |
- |
1 |
X-37664335-GGG-ATC |
c.1228_1230delinsATC |
p.G410I |
Missense |
10/13 |
- |
1 |
X-37664335-GGG-CAT |
c.1228_1230delinsCAT |
p.G410H |
Missense |
10/13 |
- |
1 |
X-37664335-GGG-TAT |
c.1228_1230delinsTAT |
p.G410Y |
Missense |
10/13 |
- |
1 |
X-37664335-GGG-TGT |
c.1228_1230delinsTGT |
p.G410C |
Missense |
10/13 |
- |
1 |
X-37664335-GGG-TTT |
c.1228_1230delinsTTT |
p.G410F |
Missense |
10/13 |
- |
1 |
X-37664335-G-T |
c.1228G>T |
p.G410W |
Missense |
10/13 |
- |
1 |
X-37664336-G-A |
c.1229G>A |
p.G410E |
Missense |
10/13 |
- |
1 |
X-37664336-G-C |
c.1229G>C |
p.G410A |
Missense |
10/13 |
- |
1 |
X-37664336-GG-AC |
c.1229_1230delinsAC |
p.G410D |
Missense |
10/13 |
- |
1 |
X-37664336-G-T |
c.1229G>T |
p.G410V |
Missense |
10/13 |
- |
1 |
X-37664338-A-C |
c.1231A>C |
p.I411L |
Missense |
10/13 |
- |
1 |
X-37664338-A-G |
c.1231A>G |
p.I411V |
Missense |
10/13 |
- |
1 |
X-37664338-A-T |
c.1231A>T |
p.I411F |
Missense |
10/13 |
- |
2 |
X-37664338-AT-CA |
c.1231_1232delinsCA |
p.I411H |
Missense |
10/13 |
- |
1 |
X-37664338-AT-CC |
c.1231_1232delinsCC |
p.I411P |
Missense |
10/13 |
- |
1 |
X-37664338-AT-GA |
c.1231_1232delinsGA |
p.I411D |
Missense |
10/13 |
- |
1 |
X-37664338-AT-GC |
c.1231_1232delinsGC |
p.I411A |
Missense |
10/13 |
- |
1 |
X-37664338-AT-GG |
c.1231_1232delinsGG |
p.I411G |
Missense |
10/13 |
- |
1 |
X-37664338-AT-TA |
c.1231_1232delinsTA |
p.I411Y |
Missense |
10/13 |
- |
1 |
X-37664338-ATT-CAA |
c.1231_1233delinsCAA |
p.I411Q |
Missense |
10/13 |
- |
1 |
X-37664338-AT-TG |
c.1231_1232delinsTG |
p.I411C |
Missense |
10/13 |
- |
1 |
X-37664338-ATT-GAG |
c.1231_1233delinsGAG |
p.I411E |
Missense |
10/13 |
- |
1 |
X-37664338-ATT-TGG |
c.1231_1233delinsTGG |
p.I411W |
Missense |
10/13 |
- |
1 |
X-37664339-T-A |
c.1232T>A |
p.I411N |
Missense |
10/13 |
- |
1 |
X-37664339-T-C |
c.1232T>C |
p.I411T |
Missense |
10/13 |
- |
1 |
X-37664339-T-G |
c.1232T>G |
p.I411S |
Missense |
10/13 |
- |
1 |
X-37664339-TT-AG |
c.1232_1233delinsAG |
p.I411K |
Missense |
10/13 |
- |
1 |
X-37664339-TT-GG |
c.1232_1233delinsGG |
p.I411R |
Missense |
10/13 |
- |
1 |
X-37664340-T-G |
c.1233T>G |
p.I411M |
Missense |
10/13 |
- |
1 |
X-37664341-G-A |
c.1234G>A |
p.G412R |
Missense |
10/13 |
- |
6 |
X-37664341-G-C |
c.1234G>C |
p.G412R |
Missense |
10/13 |
- |
5 |
X-37664341-GG-AA |
c.1234_1235delinsAA |
p.G412K |
Missense |
10/13 |
- |
1 |
X-37664341-GG-AC |
c.1234_1235delinsAC |
p.G412T |
Missense |
10/13 |
- |
1 |
X-37664341-GG-AT |
c.1234_1235delinsAT |
p.G412M |
Missense |
10/13 |
- |
1 |
X-37664341-GG-CA |
c.1234_1235delinsCA |
p.G412Q |
Missense |
10/13 |
- |
1 |
X-37664341-GG-CC |
c.1234_1235inv |
p.G412P |
Missense |
10/13 |
- |
1 |
X-37664341-GG-CT |
c.1234_1235delinsCT |
p.G412L |
Missense |
10/13 |
- |
1 |
X-37664341-GGG-AAC |
c.1234_1236delinsAAC |
p.G412N |
Missense |
10/13 |
- |
1 |
X-37664341-GGG-AGC |
c.1234_1236delinsAGC |
p.G412S |
Missense |
10/13 |
- |
1 |
X-37664341-GGG-ATC |
c.1234_1236delinsATC |
p.G412I |
Missense |
10/13 |
- |
2 |
X-37664341-GGG-CAT |
c.1234_1236delinsCAT |
p.G412H |
Missense |
10/13 |
- |
1 |
X-37664341-GGG-TAT |
c.1234_1236delinsTAT |
p.G412Y |
Missense |
10/13 |
- |
1 |
X-37664341-GGG-TGT |
c.1234_1236delinsTGT |
p.G412C |
Missense |
10/13 |
- |
1 |
X-37664341-GGG-TTT |
c.1234_1236delinsTTT |
p.G412F |
Missense |
10/13 |
- |
1 |
X-37664341-G-T |
c.1234G>T |
p.G412W |
Missense |
10/13 |
- |
1 |
X-37664342-G-A |
c.1235G>A |
p.G412E |
Missense |
10/13 |
- |
9 |
X-37664342-G-C |
c.1235G>C |
p.G412A |
Missense |
10/13 |
- |
1 |
X-37664342-GG-AA |
c.1235_1236delinsAA |
p.G412E |
Missense |
10/13 |
- |
1 |
X-37664342-GG-AC |
c.1235_1236delinsAC |
p.G412D |
Missense |
10/13 |
- |
1 |
X-37664342-G-T |
c.1235G>T |
p.G412V |
Missense |
10/13 |
- |
1 |
X-37664340-T-TG |
c.1237dup |
p.V413Gfs*18 |
Frameshift |
10/13 |
- |
2 |
X-37664344-G-A |
c.1237G>A |
p.V413I |
Missense |
10/13 |
- |
1 |
X-37664344-G-C |
c.1237G>C |
p.V413L |
Missense |
10/13 |
- |
1 |
X-37664344-G-T |
c.1237G>T |
p.V413F |
Missense |
10/13 |
- |
1 |
X-37664344-GT-AA |
c.1237_1238delinsAA |
p.V413N |
Missense |
10/13 |
- |
1 |
X-37664344-GT-AC |
c.1237_1238inv |
p.V413T |
Missense |
10/13 |
- |
1 |
X-37664344-GT-AG |
c.1237_1238delinsAG |
p.V413S |
Missense |
10/13 |
- |
1 |
X-37664344-GT-CA |
c.1237_1238delinsCA |
p.V413H |
Missense |
10/13 |
- |
1 |
X-37664344-GTC-AAG |
c.1237_1239delinsAAG |
p.V413K |
Missense |
10/13 |
- |
1 |
X-37664344-GTC-ATG |
c.1237_1239delinsATG |
p.V413M |
Missense |
10/13 |
- |
1 |
X-37664344-GT-CC |
c.1237_1238delinsCC |
p.V413P |
Missense |
10/13 |
- |
1 |
X-37664344-GTC-CAA |
c.1237_1239delinsCAA |
p.V413Q |
Missense |
10/13 |
- |
1 |
X-37664344-GT-CG |
c.1237_1238delinsCG |
p.V413R |
Missense |
10/13 |
- |
1 |
X-37664344-GTC-TGG |
c.1237_1239delinsTGG |
p.V413W |
Missense |
10/13 |
- |
1 |
X-37664344-GT-TA |
c.1237_1238delinsTA |
p.V413Y |
Missense |
10/13 |
- |
1 |
X-37664344-GT-TG |
c.1237_1238delinsTG |
p.V413C |
Missense |
10/13 |
- |
1 |
X-37664345-T-A |
c.1238T>A |
p.V413D |
Missense |
10/13 |
- |
1 |
X-37664345-T-C |
c.1238T>C |
p.V413A |
Missense |
10/13 |
- |
1 |
X-37664345-TC-AG |
c.1238_1239delinsAG |
p.V413E |
Missense |
10/13 |
- |
1 |
X-37664345-T-G |
c.1238T>G |
p.V413G |
Missense |
10/13 |
- |
1 |
X-37664347-A-C |
c.1240A>C |
p.T414P |
Missense |
10/13 |
- |
1 |
X-37664347-ACA-CAT |
c.1240_1242delinsCAT |
p.T414H |
Missense |
10/13 |
- |
1 |
X-37664347-ACA-GAC |
c.1240_1242delinsGAC |
p.T414D |
Missense |
10/13 |
- |
1 |
X-37664347-ACA-TAT |
c.1240_1242delinsTAT |
p.T414Y |
Missense |
10/13 |
- |
1 |
X-37664347-ACA-TGG |
c.1240_1242delinsTGG |
p.T414W |
Missense |
10/13 |
- |
1 |
X-37664347-ACA-TGT |
c.1240_1242inv |
p.T414C |
Missense |
10/13 |
- |
1 |
X-37664347-ACA-TTT |
c.1240_1242delinsTTT |
p.T414F |
Missense |
10/13 |
- |
1 |
X-37664347-AC-CA |
c.1240_1241delinsCA |
p.T414Q |
Missense |
10/13 |
- |
1 |
X-37664347-AC-CT |
c.1240_1241delinsCT |
p.T414L |
Missense |
10/13 |
- |
1 |
X-37664347-AC-GA |
c.1240_1241delinsGA |
p.T414E |
Missense |
10/13 |
- |
1 |
X-37664347-AC-GG |
c.1240_1241delinsGG |
p.T414G |
Missense |
10/13 |
- |
1 |
X-37664347-AC-GT |
c.1240_1241inv |
p.T414V |
Missense |
10/13 |
- |
1 |
X-37664347-A-G |
c.1240A>G |
p.T414A |
Missense |
10/13 |
- |
1 |
X-37664347-A-T |
c.1240A>T |
p.T414S |
Missense |
10/13 |
- |
1 |
X-37664348-C-A |
c.1241C>A |
p.T414K |
Missense |
10/13 |
- |
1 |
X-37664348-CA-AC |
c.1241_1242delinsAC |
p.T414N |
Missense |
10/13 |
- |
1 |
X-37664348-CA-TG |
c.1241_1242inv |
p.T414M |
Missense |
10/13 |
- |
1 |
X-37664348-C-G |
c.1241C>G |
p.T414R |
Missense |
10/13 |
- |
1 |
X-37664348-C-T |
c.1241C>T |
p.T414I |
Missense |
10/13 |
- |
2 |
X-37664349-A-C |
c.1242A>C |
p.T414= |
Synonymous |
10/13 |
- |
1 |
X-37664349-A-G |
c.1242A>G |
p.T414= |
Synonymous |
10/13 |
- |
1 |
X-37664349-A-T |
c.1242A>T |
p.T414= |
Synonymous |
10/13 |
- |
1 |
X-37664350-C-A |
c.1243C>A |
p.P415T |
Missense |
10/13 |
- |
1 |
X-37664350-CC-AA |
c.1243_1244delinsAA |
p.P415N |
Missense |
10/13 |
- |
1 |
X-37664350-CC-AT |
c.1243_1244delinsAT |
p.P415I |
Missense |
10/13 |
- |
1 |
X-37664350-CCC-AAG |
c.1243_1245delinsAAG |
p.P415K |
Missense |
10/13 |
- |
1 |
X-37664350-CCC-ATG |
c.1243_1245delinsATG |
p.P415M |
Missense |
10/13 |
- |
1 |
X-37664350-CCC-GAG |
c.1243_1245delinsGAG |
p.P415E |
Missense |
10/13 |
- |
1 |
X-37664350-CCC-TGG |
c.1243_1245delinsTGG |
p.P415W |
Missense |
10/13 |
- |
1 |
X-37664350-CC-GA |
c.1243_1244delinsGA |
p.P415D |
Missense |
10/13 |
- |
1 |
X-37664350-CC-GG |
c.1243_1244inv |
p.P415G |
Missense |
10/13 |
- |
1 |
X-37664350-CC-GT |
c.1243_1244delinsGT |
p.P415V |
Missense |
10/13 |
- |
1 |
X-37664350-CC-TA |
c.1243_1244delinsTA |
p.P415Y |
Missense |
10/13 |
- |
1 |
X-37664350-CC-TG |
c.1243_1244delinsTG |
p.P415C |
Missense |
10/13 |
- |
1 |
X-37664350-CC-TT |
c.1243_1244delinsTT |
p.P415F |
Missense |
10/13 |
- |
1 |
X-37664350-C-G |
c.1243C>G |
p.P415A |
Missense |
10/13 |
- |
1 |
X-37664350-C-T |
c.1243C>T |
p.P415S |
Missense |
10/13 |
- |
2 |
X-37664351-C-A |
c.1244C>A |
p.P415H |
Missense |
10/13 |
- |
10 |
X-37664351-CC-AA |
c.1244_1245delinsAA |
p.P415Q |
Missense |
10/13 |
- |
1 |
X-37664351-C-G |
c.1244C>G |
p.P415R |
Missense |
10/13 |
- |
4 |
X-37664351-C-T |
c.1244C>T |
p.P415L |
Missense |
10/13 |
- |
10 |
X-37664352-C-A |
c.1245C>A |
p.P415= |
Synonymous |
10/13 |
- |
1 |
X-37664353-T-A |
c.1246T>A |
p.F416I |
Missense |
10/13 |
- |
1 |
X-37664353-T-C |
c.1246T>C |
p.F416L |
Missense |
10/13 |
- |
1 |
X-37664353-T-G |
c.1246T>G |
p.F416V |
Missense |
10/13 |
- |
1 |
X-37664353-TT-AA |
c.1246_1247inv |
p.F416N |
Missense |
10/13 |
- |
1 |
X-37664353-TT-AC |
c.1246_1247delinsAC |
p.F416T |
Missense |
10/13 |
- |
1 |
X-37664353-TT-CA |
c.1246_1247delinsCA |
p.F416H |
Missense |
10/13 |
- |
1 |
X-37664353-TTC-AAG |
c.1246_1248delinsAAG |
p.F416K |
Missense |
10/13 |
- |
1 |
X-37664353-TTC-ATG |
c.1246_1248delinsATG |
p.F416M |
Missense |
10/13 |
- |
1 |
X-37664353-TT-CC |
c.1246_1247delinsCC |
p.F416P |
Missense |
10/13 |
- |
1 |
X-37664353-TTC-CAA |
c.1246_1248delinsCAA |
p.F416Q |
Missense |
10/13 |
- |
1 |
X-37664353-TT-CG |
c.1246_1247delinsCG |
p.F416R |
Missense |
10/13 |
- |
1 |
X-37664353-TTC-GAG |
c.1246_1248delinsGAG |
p.F416E |
Missense |
10/13 |
- |
1 |
X-37664353-TT-GA |
c.1246_1247delinsGA |
p.F416D |
Missense |
10/13 |
- |
1 |
X-37664353-TT-GC |
c.1246_1247delinsGC |
p.F416A |
Missense |
10/13 |
- |
1 |
X-37664353-TT-GG |
c.1246_1247delinsGG |
p.F416G |
Missense |
10/13 |
- |
1 |
X-37664355-C-A |
c.1248C>A |
p.F416L |
Missense |
10/13 |
- |
1 |
X-37664355-C-G |
c.1248C>G |
p.F416L |
Missense |
10/13 |
- |
1 |
X-37664354-T-A |
c.1247T>A |
p.F416Y |
Missense |
10/13 |
- |
1 |
X-37664354-T-C |
c.1247T>C |
p.F416S |
Missense |
10/13 |
- |
1 |
X-37664354-TC-GG |
c.1247_1248delinsGG |
p.F416W |
Missense |
10/13 |
- |
1 |
X-37664354-T-G |
c.1247T>G |
p.F416C |
Missense |
10/13 |
- |
1 |
X-37664355-C-T |
c.1248C>T |
p.F416= |
Synonymous |
10/13 |
- |
6 |
X-37664356-G-A |
c.1249G>A |
p.A417T |
Missense |
10/13 |
- |
4 |
X-37664356-G-C |
c.1249G>C |
p.A417P |
Missense |
10/13 |
- |
1 |
X-37664356-GC-AA |
c.1249_1250delinsAA |
p.A417K |
Missense |
10/13 |
- |
1 |
X-37664356-GCA-AAC |
c.1249_1251delinsAAC |
p.A417N |
Missense |
10/13 |
- |
1 |
X-37664356-GCA-ATG |
c.1249_1251delinsATG |
p.A417M |
Missense |
10/13 |
- |
1 |
X-37664356-GCA-CAT |
c.1249_1251delinsCAT |
p.A417H |
Missense |
10/13 |
- |
1 |
X-37664356-GC-AG |
c.1249_1250delinsAG |
p.A417R |
Missense |
10/13 |
- |
1 |
X-37664356-GC-AT |
c.1249_1250delinsAT |
p.A417I |
Missense |
10/13 |
- |
1 |
X-37664356-GCA-TAT |
c.1249_1251delinsTAT |
p.A417Y |
Missense |
10/13 |
- |
1 |
X-37664356-GCA-TGG |
c.1249_1251delinsTGG |
p.A417W |
Missense |
10/13 |
- |
1 |
X-37664356-GCA-TGT |
c.1249_1251delinsTGT |
p.A417C |
Missense |
10/13 |
- |
1 |
X-37664356-GCA-TTT |
c.1249_1251delinsTTT |
p.A417F |
Missense |
10/13 |
- |
1 |
X-37664356-GC-CA |
c.1249_1250delinsCA |
p.A417Q |
Missense |
10/13 |
- |
1 |
X-37664356-GC-CT |
c.1249_1250delinsCT |
p.A417L |
Missense |
10/13 |
- |
1 |
X-37664356-G-T |
c.1249G>T |
p.A417S |
Missense |
10/13 |
- |
2 |
X-37664357-C-A |
c.1250C>A |
p.A417E |
Missense |
10/13 |
- |
1 |
X-37664357-CA-AC |
c.1250_1251delinsAC |
p.A417D |
Missense |
10/13 |
- |
1 |
X-37664357-C-G |
c.1250C>G |
p.A417G |
Missense |
10/13 |
- |
1 |
X-37664357-C-T |
c.1250C>T |
p.A417V |
Missense |
10/13 |
- |
2 |
X-37664359-T-A |
c.1252T>A |
p.S418T |
Missense |
10/13 |
- |
1 |
X-37664359-T-C |
c.1252T>C |
p.S418P |
Missense |
10/13 |
- |
1 |
X-37664359-TC-AA |
c.1252_1253delinsAA |
p.S418N |
Missense |
10/13 |
- |
1 |
X-37664359-TC-AT |
c.1252_1253delinsAT |
p.S418I |
Missense |
10/13 |
- |
1 |
X-37664359-TC-CA |
c.1252_1253delinsCA |
p.S418H |
Missense |
10/13 |
- |
1 |
X-37664359-TCC-AAG |
c.1252_1254delinsAAG |
p.S418K |
Missense |
10/13 |
- |
1 |
X-37664359-TCC-ATG |
c.1252_1254delinsATG |
p.S418M |
Missense |
10/13 |
- |
1 |
X-37664359-TCC-CAA |
c.1252_1254delinsCAA |
p.S418Q |
Missense |
10/13 |
- |
1 |
X-37664359-TC-CG |
c.1252_1253delinsCG |
p.S418R |
Missense |
10/13 |
- |
1 |
X-37664359-TCC-GAG |
c.1252_1254delinsGAG |
p.S418E |
Missense |
10/13 |
- |
1 |
X-37664359-TC-CT |
c.1252_1253delinsCT |
p.S418L |
Missense |
10/13 |
- |
1 |
X-37664359-TC-GA |
c.1252_1253inv |
p.S418D |
Missense |
10/13 |
- |
1 |
X-37664359-TC-GG |
c.1252_1253delinsGG |
p.S418G |
Missense |
10/13 |
- |
1 |
X-37664359-TC-GT |
c.1252_1253delinsGT |
p.S418V |
Missense |
10/13 |
- |
1 |
X-37664359-T-G |
c.1252T>G |
p.S418A |
Missense |
10/13 |
- |
1 |
X-37664360-C-A |
c.1253C>A |
p.S418Y |
Missense |
10/13 |
- |
4 |
X-37664360-CC-GG |
c.1253_1254inv |
p.S418W |
Missense |
10/13 |
- |
1 |
X-37664360-C-G |
c.1253C>G |
p.S418C |
Missense |
10/13 |
- |
1 |
X-37664360-C-T |
c.1253C>T |
p.S418F |
Missense |
10/13 |
- |
1 |
X-37664361-C-T |
c.1254C>T |
p.S418= |
Synonymous |
10/13 |
- |
1 |
X-37664361-C-CA |
c.1255dup |
p.I419Nfs*12 |
Frameshift |
10/13 |
- |
1 |
X-37664362-A-C |
c.1255A>C |
p.I419L |
Missense |
10/13 |
- |
2 |
X-37664362-A-G |
c.1255A>G |
p.I419V |
Missense |
10/13 |
- |
1 |
X-37664362-A-T |
c.1255A>T |
p.I419F |
Missense |
10/13 |
- |
1 |
X-37664362-AT-CA |
c.1255_1256delinsCA |
p.I419H |
Missense |
10/13 |
- |
1 |
X-37664362-AT-CC |
c.1255_1256delinsCC |
p.I419P |
Missense |
10/13 |
- |
1 |
X-37664362-AT-GA |
c.1255_1256delinsGA |
p.I419D |
Missense |
10/13 |
- |
1 |
X-37664362-AT-GC |
c.1255_1256delinsGC |
p.I419A |
Missense |
10/13 |
- |
1 |
X-37664362-AT-GG |
c.1255_1256delinsGG |
p.I419G |
Missense |
10/13 |
- |
1 |
X-37664362-AT-TA |
c.1255_1256delinsTA |
p.I419Y |
Missense |
10/13 |
- |
1 |
X-37664362-ATT-CAA |
c.1255_1257delinsCAA |
p.I419Q |
Missense |
10/13 |
- |
1 |
X-37664362-AT-TG |
c.1255_1256delinsTG |
p.I419C |
Missense |
10/13 |
- |
1 |
X-37664362-ATT-GAG |
c.1255_1257delinsGAG |
p.I419E |
Missense |
10/13 |
- |
1 |
X-37664362-ATT-TGG |
c.1255_1257delinsTGG |
p.I419W |
Missense |
10/13 |
- |
1 |
X-37664363-T-A |
c.1256T>A |
p.I419N |
Missense |
10/13 |
- |
1 |
X-37664363-T-C |
c.1256T>C |
p.I419T |
Missense |
10/13 |
- |
1 |
X-37664363-T-G |
c.1256T>G |
p.I419S |
Missense |
10/13 |
- |
1 |
X-37664363-TT-AG |
c.1256_1257delinsAG |
p.I419K |
Missense |
10/13 |
- |
1 |
X-37664363-TT-GG |
c.1256_1257delinsGG |
p.I419R |
Missense |
10/13 |
- |
1 |
X-37664364-T-G |
c.1257T>G |
p.I419M |
Missense |
10/13 |
- |
1 |
X-37664365-C-A |
c.1258C>A |
p.L420I |
Missense |
10/13 |
- |
1 |
X-37664365-C-G |
c.1258C>G |
p.L420V |
Missense |
10/13 |
- |
1 |
X-37664365-C-T |
c.1258C>T |
p.L420F |
Missense |
10/13 |
- |
1 |
X-37664365-CT-AA |
c.1258_1259delinsAA |
p.L420N |
Missense |
10/13 |
- |
1 |
X-37664365-CT-AC |
c.1258_1259delinsAC |
p.L420T |
Missense |
10/13 |
- |
1 |
X-37664365-CT-AG |
c.1258_1259inv |
p.L420S |
Missense |
10/13 |
- |
1 |
X-37664365-CTC-AAG |
c.1258_1260delinsAAG |
p.L420K |
Missense |
10/13 |
- |
1 |
X-37664365-CTC-ATG |
c.1258_1260delinsATG |
p.L420M |
Missense |
10/13 |
- |
1 |
X-37664365-CTC-GAG |
c.1258_1260inv |
p.L420E |
Missense |
10/13 |
- |
1 |
X-37664365-CTC-TGG |
c.1258_1260delinsTGG |
p.L420W |
Missense |
10/13 |
- |
1 |
X-37664365-CT-GA |
c.1258_1259delinsGA |
p.L420D |
Missense |
10/13 |
- |
1 |
X-37664365-CT-GC |
c.1258_1259delinsGC |
p.L420A |
Missense |
10/13 |
- |
1 |
X-37664365-CT-GG |
c.1258_1259delinsGG |
p.L420G |
Missense |
10/13 |
- |
1 |
X-37664365-CT-TA |
c.1258_1259delinsTA |
p.L420Y |
Missense |
10/13 |
- |
1 |
X-37664365-CT-TG |
c.1258_1259delinsTG |
p.L420C |
Missense |
10/13 |
- |
1 |
X-37664366-T-A |
c.1259T>A |
p.L420H |
Missense |
10/13 |
- |
1 |
X-37664366-T-C |
c.1259T>C |
p.L420P |
Missense |
10/13 |
- |
7 |
X-37664366-TC-AA |
c.1259_1260delinsAA |
p.L420Q |
Missense |
10/13 |
- |
1 |
X-37664366-T-G |
c.1259T>G |
p.L420R |
Missense |
10/13 |
- |
2 |
X-37664367-C-A |
c.1260C>A |
p.L420= |
Synonymous |
10/13 |
- |
3 |
X-37664367-C-G |
c.1260C>G |
p.L420= |
Synonymous |
10/13 |
- |
3 |
X-37664367-C-T |
c.1260C>T |
p.L420= |
Synonymous |
10/13 |
- |
4 |
X-37664368-AA-CC |
c.1261_1262delinsCC |
p.K421P |
Missense |
10/13 |
- |
1 |
X-37664368-AA-CT |
c.1261_1262delinsCT |
p.K421L |
Missense |
10/13 |
- |
1 |
X-37664368-AA-GC |
c.1261_1262delinsGC |
p.K421A |
Missense |
10/13 |
- |
2 |
X-37664368-AAG-CAT |
c.1261_1263delinsCAT |
p.K421H |
Missense |
10/13 |
- |
1 |
X-37664368-AA-GG |
c.1261_1262delinsGG |
p.K421G |
Missense |
10/13 |
- |
1 |
X-37664368-AAG-GAC |
c.1261_1263delinsGAC |
p.K421D |
Missense |
10/13 |
- |
1 |
X-37664368-AA-GT |
c.1261_1262delinsGT |
p.K421V |
Missense |
10/13 |
- |
1 |
X-37664368-AAG-TAT |
c.1261_1263delinsTAT |
p.K421Y |
Missense |
10/13 |
- |
1 |
X-37664368-AAG-TGT |
c.1261_1263delinsTGT |
p.K421C |
Missense |
10/13 |
- |
1 |
X-37664368-AAG-TTT |
c.1261_1263delinsTTT |
p.K421F |
Missense |
10/13 |
- |
1 |
X-37664368-AA-TG |
c.1261_1262delinsTG |
p.K421W |
Missense |
10/13 |
- |
1 |
X-37664368-A-C |
c.1261A>C |
p.K421Q |
Missense |
10/13 |
- |
1 |
X-37664368-A-G |
c.1261A>G |
p.K421E |
Missense |
10/13 |
- |
1 |
X-37664369-A-C |
c.1262A>C |
p.K421T |
Missense |
10/13 |
- |
1 |
X-37664369-A-G |
c.1262A>G |
p.K421R |
Missense |
10/13 |
- |
1 |
X-37664369-AG-GC |
c.1262_1263delinsGC |
p.K421S |
Missense |
10/13 |
- |
1 |
X-37664369-AG-TC |
c.1262_1263delinsTC |
p.K421I |
Missense |
10/13 |
- |
1 |
X-37664369-A-T |
c.1262A>T |
p.K421M |
Missense |
10/13 |
- |
1 |
X-37664370-G-C |
c.1263G>C |
p.K421N |
Missense |
10/13 |
- |
1 |
X-37664370-G-T |
c.1263G>T |
p.K421N |
Missense |
10/13 |
- |
1 |
X-37664371-T-A |
c.1264T>A |
p.S422T |
Missense |
10/13 |
- |
1 |
X-37664371-T-C |
c.1264T>C |
p.S422P |
Missense |
10/13 |
- |
7 |
X-37664371-TC-AA |
c.1264_1265delinsAA |
p.S422K |
Missense |
10/13 |
- |
1 |
X-37664371-TCA-AAC |
c.1264_1266delinsAAC |
p.S422N |
Missense |
10/13 |
- |
1 |
X-37664371-TCA-ATG |
c.1264_1266delinsATG |
p.S422M |
Missense |
10/13 |
- |
1 |
X-37664371-TCA-CAT |
c.1264_1266delinsCAT |
p.S422H |
Missense |
10/13 |
- |
1 |
X-37664371-TC-AG |
c.1264_1265delinsAG |
p.S422R |
Missense |
10/13 |
- |
1 |
X-37664371-TCA-GAC |
c.1264_1266delinsGAC |
p.S422D |
Missense |
10/13 |
- |
1 |
X-37664371-TC-AT |
c.1264_1265delinsAT |
p.S422I |
Missense |
10/13 |
- |
1 |
X-37664371-TC-CA |
c.1264_1265delinsCA |
p.S422Q |
Missense |
10/13 |
- |
1 |
X-37664371-TC-GA |
c.1264_1265inv |
p.S422E |
Missense |
10/13 |
- |
1 |
X-37664371-TC-GG |
c.1264_1265delinsGG |
p.S422G |
Missense |
10/13 |
- |
1 |
X-37664371-TC-GT |
c.1264_1265delinsGT |
p.S422V |
Missense |
10/13 |
- |
1 |
X-37664371-T-G |
c.1264T>G |
p.S422A |
Missense |
10/13 |
- |
1 |
X-37664369-AGTCAGTCTG-A |
c.1265_1273del |
p.S422_W424del |
InFrameDeletion |
10/13 |
- |
1 |
X-37664372-C-A |
c.1265C>A |
p.S422* |
Nonsense |
10/13 |
- |
1 |
X-37664372-CA-AT |
c.1265_1266delinsAT |
p.S422Y |
Missense |
10/13 |
- |
1 |
X-37664372-CA-GG |
c.1265_1266delinsGG |
p.S422W |
Missense |
10/13 |
- |
1 |
X-37664372-CA-GT |
c.1265_1266delinsGT |
p.S422C |
Missense |
10/13 |
- |
1 |
X-37664372-CA-TT |
c.1265_1266delinsTT |
p.S422F |
Missense |
10/13 |
- |
1 |
X-37664372-C-T |
c.1265C>T |
p.S422L |
Missense |
10/13 |
- |
3 |
X-37664374-G-A |
c.1267G>A |
p.V423I |
Missense |
10/13 |
- |
1 |
X-37664374-G-C |
c.1267G>C |
p.V423L |
Missense |
10/13 |
- |
1 |
X-37664374-G-T |
c.1267G>T |
p.V423F |
Missense |
10/13 |
- |
1 |
X-37664374-GT-AA |
c.1267_1268delinsAA |
p.V423N |
Missense |
10/13 |
- |
1 |
X-37664374-GT-AC |
c.1267_1268inv |
p.V423T |
Missense |
10/13 |
- |
1 |
X-37664374-GT-AG |
c.1267_1268delinsAG |
p.V423S |
Missense |
10/13 |
- |
1 |
X-37664374-GT-CA |
c.1267_1268delinsCA |
p.V423H |
Missense |
10/13 |
- |
1 |
X-37664374-GTC-AAG |
c.1267_1269delinsAAG |
p.V423K |
Missense |
10/13 |
- |
1 |
X-37664374-GTC-ATG |
c.1267_1269delinsATG |
p.V423M |
Missense |
10/13 |
- |
1 |
X-37664374-GT-CC |
c.1267_1268delinsCC |
p.V423P |
Missense |
10/13 |
- |
1 |
X-37664374-GTC-CAA |
c.1267_1269delinsCAA |
p.V423Q |
Missense |
10/13 |
- |
1 |
X-37664374-GT-CG |
c.1267_1268delinsCG |
p.V423R |
Missense |
10/13 |
- |
1 |
X-37664374-GTC-TGG |
c.1267_1269delinsTGG |
p.V423W |
Missense |
10/13 |
- |
1 |
X-37664374-GT-TA |
c.1267_1268delinsTA |
p.V423Y |
Missense |
10/13 |
- |
1 |
X-37664374-GT-TG |
c.1267_1268delinsTG |
p.V423C |
Missense |
10/13 |
- |
1 |
X-37664375-T-A |
c.1268T>A |
p.V423D |
Missense |
10/13 |
- |
1 |
X-37664375-T-C |
c.1268T>C |
p.V423A |
Missense |
10/13 |
- |
1 |
X-37664375-TC-AG |
c.1268_1269delinsAG |
p.V423E |
Missense |
10/13 |
- |
1 |
X-37664375-T-G |
c.1268T>G |
p.V423G |
Missense |
10/13 |
- |
1 |
X-37664376-C-A |
c.1269C>A |
p.V423= |
Synonymous |
10/13 |
- |
1 |
X-37664377-T-A |
c.1270T>A |
p.W424R |
Missense |
10/13 |
- |
1 |
X-37664377-T-C |
c.1270T>C |
p.W424R |
Missense |
10/13 |
- |
1 |
X-37664377-T-G |
c.1270T>G |
p.W424G |
Missense |
10/13 |
- |
1 |
X-37664377-TG-AA |
c.1270_1271delinsAA |
p.W424K |
Missense |
10/13 |
- |
1 |
X-37664377-TG-AC |
c.1270_1271delinsAC |
p.W424T |
Missense |
10/13 |
- |
1 |
X-37664377-TG-AT |
c.1270_1271delinsAT |
p.W424M |
Missense |
10/13 |
- |
1 |
X-37664377-TG-CA |
c.1270_1271inv |
p.W424Q |
Missense |
10/13 |
- |
1 |
X-37664377-TG-CC |
c.1270_1271delinsCC |
p.W424P |
Missense |
10/13 |
- |
1 |
X-37664377-TG-GA |
c.1270_1271delinsGA |
p.W424E |
Missense |
10/13 |
- |
1 |
X-37664377-TGG-AAC |
c.1270_1272delinsAAC |
p.W424N |
Missense |
10/13 |
- |
1 |
X-37664377-TGG-ATC |
c.1270_1272delinsATC |
p.W424I |
Missense |
10/13 |
- |
1 |
X-37664377-TG-GC |
c.1270_1271delinsGC |
p.W424A |
Missense |
10/13 |
- |
2 |
X-37664377-TGG-CAT |
c.1270_1272delinsCAT |
p.W424H |
Missense |
10/13 |
- |
1 |
X-37664377-TGG-GAC |
c.1270_1272delinsGAC |
p.W424D |
Missense |
10/13 |
- |
1 |
X-37664377-TG-GT |
c.1270_1271delinsGT |
p.W424V |
Missense |
10/13 |
- |
1 |
X-37664378-G-A |
c.1271G>A |
p.W424* |
Nonsense |
10/13 |
- |
1 |
X-37664378-G-C |
c.1271G>C |
p.W424S |
Missense |
10/13 |
- |
1 |
X-37664378-GG-AT |
c.1271_1272delinsAT |
p.W424Y |
Missense |
10/13 |
- |
1 |
X-37664378-GG-TT |
c.1271_1272delinsTT |
p.W424F |
Missense |
10/13 |
- |
1 |
X-37664378-G-T |
c.1271G>T |
p.W424L |
Missense |
10/13 |
- |
1 |
X-37664377-TG-T |
c.1272del |
p.W424Cfs*11 |
Frameshift |
10/13 |
- |
1 |
X-37664379-G-A |
c.1272G>A |
p.W424* |
Nonsense |
10/13 |
- |
4 |
X-37664379-G-C |
c.1272G>C |
p.W424C |
Missense |
10/13 |
- |
1 |
X-37664379-G-T |
c.1272G>T |
p.W424C |
Missense |
10/13 |
- |
1 |
X-37664380-T-A |
c.1273T>A |
p.Y425N |
Missense |
10/13 |
- |
1 |
X-37664380-TA-AC |
c.1273_1274delinsAC |
p.Y425T |
Missense |
10/13 |
- |
1 |
X-37664380-TA-AT |
c.1273_1274delinsAT |
p.Y425I |
Missense |
10/13 |
- |
1 |
X-37664380-TAC-AAG |
c.1273_1275delinsAAG |
p.Y425K |
Missense |
10/13 |
- |
1 |
X-37664380-TAC-ATG |
c.1273_1275delinsATG |
p.Y425M |
Missense |
10/13 |
- |
1 |
X-37664380-TA-CC |
c.1273_1274delinsCC |
p.Y425P |
Missense |
10/13 |
- |
1 |
X-37664380-TAC-CAA |
c.1273_1275delinsCAA |
p.Y425Q |
Missense |
10/13 |
- |
1 |
X-37664380-TA-CG |
c.1273_1274delinsCG |
p.Y425R |
Missense |
10/13 |
- |
1 |
X-37664380-TAC-GAG |
c.1273_1275delinsGAG |
p.Y425E |
Missense |
10/13 |
- |
1 |
X-37664380-TA-CT |
c.1273_1274delinsCT |
p.Y425L |
Missense |
10/13 |
- |
1 |
X-37664380-TA-GC |
c.1273_1274delinsGC |
p.Y425A |
Missense |
10/13 |
- |
2 |
X-37664380-TA-GG |
c.1273_1274delinsGG |
p.Y425G |
Missense |
10/13 |
- |
1 |
X-37664380-TA-GT |
c.1273_1274delinsGT |
p.Y425V |
Missense |
10/13 |
- |
1 |
X-37664380-T-C |
c.1273T>C |
p.Y425H |
Missense |
10/13 |
- |
1 |
X-37664380-T-G |
c.1273T>G |
p.Y425D |
Missense |
10/13 |
- |
1 |
X-37664380-T-TA |
c.1274dup |
p.Y425* |
Nonsense |
10/13 |
- |
1 |
X-37664381-A-C |
c.1274A>C |
p.Y425S |
Missense |
10/13 |
- |
1 |
X-37664381-AC-GG |
c.1274_1275delinsGG |
p.Y425W |
Missense |
10/13 |
- |
1 |
X-37664381-A-G |
c.1274A>G |
p.Y425C |
Missense |
10/13 |
- |
1 |
X-37664381-A-T |
c.1274A>T |
p.Y425F |
Missense |
10/13 |
- |
1 |
X-37664382-AC-A |
c.1275del |
p.Y425* |
Frameshift |
10/13 |
- |
1 |
X-37664382-C-G |
c.1275C>G |
p.Y425* |
Nonsense |
10/13 |
- |
1 |
X-37664383-AAA-CAT |
c.1276_1278delinsCAT |
p.K426H |
Missense |
10/13 |
- |
1 |
X-37664383-AAA-GAC |
c.1276_1278delinsGAC |
p.K426D |
Missense |
10/13 |
- |
1 |
X-37664383-AAA-TAT |
c.1276_1278delinsTAT |
p.K426Y |
Missense |
10/13 |
- |
1 |
X-37664383-AAA-TGG |
c.1276_1278delinsTGG |
p.K426W |
Missense |
10/13 |
- |
1 |
X-37664383-AAA-TGT |
c.1276_1278delinsTGT |
p.K426C |
Missense |
10/13 |
- |
1 |
X-37664383-AAA-TTT |
c.1276_1278inv |
p.K426F |
Missense |
10/13 |
- |
1 |
X-37664383-AA-CC |
c.1276_1277delinsCC |
p.K426P |
Missense |
10/13 |
- |
1 |
X-37664383-AA-CT |
c.1276_1277delinsCT |
p.K426L |
Missense |
10/13 |
- |
1 |
X-37664383-AA-GC |
c.1276_1277delinsGC |
p.K426A |
Missense |
10/13 |
- |
2 |
X-37664383-AA-GG |
c.1276_1277delinsGG |
p.K426G |
Missense |
10/13 |
- |
1 |
X-37664383-AA-GT |
c.1276_1277delinsGT |
p.K426V |
Missense |
10/13 |
- |
1 |
X-37664383-A-C |
c.1276A>C |
p.K426Q |
Missense |
10/13 |
- |
1 |
X-37664383-A-G |
c.1276A>G |
p.K426E |
Missense |
10/13 |
- |
2 |
X-37664384-AA-GC |
c.1277_1278delinsGC |
p.K426S |
Missense |
10/13 |
- |
1 |
X-37664384-AA-TG |
c.1277_1278delinsTG |
p.K426M |
Missense |
10/13 |
- |
1 |
X-37664384-A-C |
c.1277A>C |
p.K426T |
Missense |
10/13 |
- |
1 |
X-37664384-A-G |
c.1277A>G |
p.K426R |
Missense |
10/13 |
- |
2 |
X-37664384-A-T |
c.1277A>T |
p.K426I |
Missense |
10/13 |
- |
1 |
X-37664385-A-C |
c.1278A>C |
p.K426N |
Missense |
10/13 |
- |
1 |
X-37664385-A-T |
c.1278A>T |
p.K426N |
Missense |
10/13 |
- |
1 |
X-37664386-T-A |
c.1279T>A |
p.Y427N |
Missense |
10/13 |
- |
1 |
X-37664386-TA-AC |
c.1279_1280delinsAC |
p.Y427T |
Missense |
10/13 |
- |
1 |
X-37664386-TA-AT |
c.1279_1280delinsAT |
p.Y427I |
Missense |
10/13 |
- |
1 |
X-37664386-TA-CC |
c.1279_1280delinsCC |
p.Y427P |
Missense |
10/13 |
- |
1 |
X-37664386-TA-CG |
c.1279_1280delinsCG |
p.Y427R |
Missense |
10/13 |
- |
1 |
X-37664386-TA-CT |
c.1279_1280delinsCT |
p.Y427L |
Missense |
10/13 |
- |
1 |
X-37664386-TA-GC |
c.1279_1280delinsGC |
p.Y427A |
Missense |
10/13 |
- |
1 |
X-37664386-TA-GG |
c.1279_1280delinsGG |
p.Y427G |
Missense |
10/13 |
- |
1 |
X-37664386-TA-GT |
c.1279_1280delinsGT |
p.Y427V |
Missense |
10/13 |
- |
1 |
X-37664386-TAT-AAG |
c.1279_1281delinsAAG |
p.Y427K |
Missense |
10/13 |
- |
1 |
X-37664386-TAT-ATG |
c.1279_1281delinsATG |
p.Y427M |
Missense |
10/13 |
- |
1 |
X-37664386-TAT-CAA |
c.1279_1281delinsCAA |
p.Y427Q |
Missense |
10/13 |
- |
1 |
X-37664386-TAT-GAG |
c.1279_1281delinsGAG |
p.Y427E |
Missense |
10/13 |
- |
1 |
X-37664386-T-C |
c.1279T>C |
p.Y427H |
Missense |
10/13 |
- |
1 |
X-37664386-T-G |
c.1279T>G |
p.Y427D |
Missense |
10/13 |
- |
1 |
X-37664387-A-C |
c.1280A>C |
p.Y427S |
Missense |
10/13 |
- |
1 |
X-37664387-A-G |
c.1280A>G |
p.Y427C |
Missense |
10/13 |
- |
1 |
X-37664387-A-T |
c.1280A>T |
p.Y427F |
Missense |
10/13 |
- |
1 |
X-37664387-AT-GG |
c.1280_1281delinsGG |
p.Y427W |
Missense |
10/13 |
- |
1 |
X-37664388-T-G |
c.1281T>G |
p.Y427* |
Nonsense |
10/13 |
- |
1 |
X-37664389-T-A |
c.1282T>A |
p.C428S |
Missense |
10/13 |
- |
1 |
X-37664389-T-C |
c.1282T>C |
p.C428R |
Missense |
10/13 |
- |
1 |
X-37664389-T-G |
c.1282T>G |
p.C428G |
Missense |
10/13 |
- |
1 |
X-37664389-TG-AA |
c.1282_1283delinsAA |
p.C428N |
Missense |
10/13 |
- |
1 |
X-37664389-TG-AC |
c.1282_1283delinsAC |
p.C428T |
Missense |
10/13 |
- |
1 |
X-37664389-TG-AT |
c.1282_1283delinsAT |
p.C428I |
Missense |
10/13 |
- |
1 |
X-37664389-TG-CA |
c.1282_1283inv |
p.C428H |
Missense |
10/13 |
- |
1 |
X-37664389-TGC-AAG |
c.1282_1284delinsAAG |
p.C428K |
Missense |
10/13 |
- |
1 |
X-37664389-TGC-ATG |
c.1282_1284delinsATG |
p.C428M |
Missense |
10/13 |
- |
1 |
X-37664389-TG-CC |
c.1282_1283delinsCC |
p.C428P |
Missense |
10/13 |
- |
1 |
X-37664389-TGC-CAA |
c.1282_1284delinsCAA |
p.C428Q |
Missense |
10/13 |
- |
1 |
X-37664389-TGC-GAG |
c.1282_1284delinsGAG |
p.C428E |
Missense |
10/13 |
- |
1 |
X-37664389-TG-CT |
c.1282_1283delinsCT |
p.C428L |
Missense |
10/13 |
- |
1 |
X-37664389-TG-GA |
c.1282_1283delinsGA |
p.C428D |
Missense |
10/13 |
- |
1 |
X-37664389-TG-GC |
c.1282_1283delinsGC |
p.C428A |
Missense |
10/13 |
- |
1 |
X-37664389-TG-GT |
c.1282_1283delinsGT |
p.C428V |
Missense |
10/13 |
- |
1 |
X-37664390-G-C |
c.1283G>C |
p.C428S |
Missense |
10/13 |
- |
1 |
X-37664390-G-A |
c.1283G>A |
p.C428Y |
Missense |
10/13 |
- |
1 |
X-37664390-G-T |
c.1283G>T |
p.C428F |
Missense |
10/13 |
- |
1 |
X-37664391-C-A |
c.1284C>A |
p.C428* |
Nonsense |
10/13 |
- |
1 |
X-37664391-C-G |
c.1284C>G |
p.C428W |
Missense |
10/13 |
- |
2 |
X-37664392-AA-CC |
c.1285_1286delinsCC |
p.N429P |
Missense |
10/13 |
- |
1 |
X-37664392-AA-CT |
c.1285_1286delinsCT |
p.N429L |
Missense |
10/13 |
- |
1 |
X-37664392-AA-GC |
c.1285_1286delinsGC |
p.N429A |
Missense |
10/13 |
- |
2 |
X-37664392-AA-GG |
c.1285_1286delinsGG |
p.N429G |
Missense |
10/13 |
- |
1 |
X-37664392-AA-GT |
c.1285_1286delinsGT |
p.N429V |
Missense |
10/13 |
- |
1 |
X-37664392-AAT-CAA |
c.1285_1287delinsCAA |
p.N429Q |
Missense |
10/13 |
- |
1 |
X-37664392-AA-TG |
c.1285_1286delinsTG |
p.N429C |
Missense |
10/13 |
- |
1 |
X-37664392-AAT-GAG |
c.1285_1287delinsGAG |
p.N429E |
Missense |
10/13 |
- |
1 |
X-37664392-AA-TT |
c.1285_1286inv |
p.N429F |
Missense |
10/13 |
- |
1 |
X-37664392-AAT-TGG |
c.1285_1287delinsTGG |
p.N429W |
Missense |
10/13 |
- |
1 |
X-37664392-A-C |
c.1285A>C |
p.N429H |
Missense |
10/13 |
- |
1 |
X-37664392-A-G |
c.1285A>G |
p.N429D |
Missense |
10/13 |
- |
1 |
X-37664392-A-T |
c.1285A>T |
p.N429Y |
Missense |
10/13 |
- |
1 |
X-37664393-A-C |
c.1286A>C |
p.N429T |
Missense |
10/13 |
- |
1 |
X-37664393-A-G |
c.1286A>G |
p.N429S |
Missense |
10/13 |
- |
1 |
X-37664393-A-T |
c.1286A>T |
p.N429I |
Missense |
10/13 |
- |
1 |
X-37664393-AT-GG |
c.1286_1287delinsGG |
p.N429R |
Missense |
10/13 |
- |
1 |
X-37664393-AT-TG |
c.1286_1287delinsTG |
p.N429M |
Missense |
10/13 |
- |
1 |
X-37664392-AAT-A |
c.1287_1288del |
p.N429Kfs*23 |
Frameshift |
10/13 |
- |
1 |
X-37664394-T-A |
c.1287T>A |
p.N429K |
Missense |
10/13 |
- |
1 |
X-37664394-T-G |
c.1287T>G |
p.N429K |
Missense |
10/13 |
- |
1 |
X-37664395-AA-CC |
c.1288_1289delinsCC |
p.N430P |
Missense |
10/13 |
- |
1 |
X-37664395-AAC-CAA |
c.1288_1290delinsCAA |
p.N430Q |
Missense |
10/13 |
- |
1 |
X-37664395-AAC-GAG |
c.1288_1290delinsGAG |
p.N430E |
Missense |
10/13 |
- |
1 |
X-37664395-AA-CT |
c.1288_1289delinsCT |
p.N430L |
Missense |
10/13 |
- |
1 |
X-37664395-AAC-TGG |
c.1288_1290delinsTGG |
p.N430W |
Missense |
10/13 |
- |
1 |
X-37664395-AA-GC |
c.1288_1289delinsGC |
p.N430A |
Missense |
10/13 |
- |
2 |
X-37664395-AA-GG |
c.1288_1289delinsGG |
p.N430G |
Missense |
10/13 |
- |
1 |
X-37664395-AA-GT |
c.1288_1289delinsGT |
p.N430V |
Missense |
10/13 |
- |
1 |
X-37664395-AA-TG |
c.1288_1289delinsTG |
p.N430C |
Missense |
10/13 |
- |
1 |
X-37664395-AA-TT |
c.1288_1289inv |
p.N430F |
Missense |
10/13 |
- |
1 |
X-37664395-A-C |
c.1288A>C |
p.N430H |
Missense |
10/13 |
- |
1 |
X-37664395-A-G |
c.1288A>G |
p.N430D |
Missense |
10/13 |
- |
1 |
X-37664395-A-T |
c.1288A>T |
p.N430Y |
Missense |
10/13 |
- |
1 |
X-37664396-A-C |
c.1289A>C |
p.N430T |
Missense |
10/13 |
- |
2 |
X-37664396-AC-GG |
c.1289_1290delinsGG |
p.N430R |
Missense |
10/13 |
- |
1 |
X-37664396-AC-TG |
c.1289_1290delinsTG |
p.N430M |
Missense |
10/13 |
- |
1 |
X-37664396-A-G |
c.1289A>G |
p.N430S |
Missense |
10/13 |
- |
1 |
X-37664396-A-T |
c.1289A>T |
p.N430I |
Missense |
10/13 |
- |
1 |
X-37664397-C-A |
c.1290C>A |
p.N430K |
Missense |
10/13 |
- |
1 |
X-37664397-C-G |
c.1290C>G |
p.N430K |
Missense |
10/13 |
- |
1 |
X-37664397-C-T |
c.1290C>T |
p.N430= |
Synonymous |
10/13 |
- |
1 |
X-37664398-G-A |
c.1291G>A |
p.A431T |
Missense |
10/13 |
- |
3 |
X-37664398-G-C |
c.1291G>C |
p.A431P |
Missense |
10/13 |
- |
1 |
X-37664398-GC-AA |
c.1291_1292delinsAA |
p.A431N |
Missense |
10/13 |
- |
1 |
X-37664398-GC-AT |
c.1291_1292delinsAT |
p.A431I |
Missense |
10/13 |
- |
1 |
X-37664398-GC-CA |
c.1291_1292delinsCA |
p.A431H |
Missense |
10/13 |
- |
1 |
X-37664398-GCC-AAG |
c.1291_1293delinsAAG |
p.A431K |
Missense |
10/13 |
- |
1 |
X-37664398-GCC-ATG |
c.1291_1293delinsATG |
p.A431M |
Missense |
10/13 |
- |
1 |
X-37664398-GCC-CAA |
c.1291_1293delinsCAA |
p.A431Q |
Missense |
10/13 |
- |
1 |
X-37664398-GC-CG |
c.1291_1292delinsCG |
p.A431R |
Missense |
10/13 |
- |
1 |
X-37664398-GC-CT |
c.1291_1292delinsCT |
p.A431L |
Missense |
10/13 |
- |
1 |
X-37664398-GCC-TGG |
c.1291_1293delinsTGG |
p.A431W |
Missense |
10/13 |
- |
1 |
X-37664398-GC-TA |
c.1291_1292delinsTA |
p.A431Y |
Missense |
10/13 |
- |
1 |
X-37664398-GC-TG |
c.1291_1292delinsTG |
p.A431C |
Missense |
10/13 |
- |
1 |
X-37664398-GC-TT |
c.1291_1292delinsTT |
p.A431F |
Missense |
10/13 |
- |
1 |
X-37664398-G-T |
c.1291G>T |
p.A431S |
Missense |
10/13 |
- |
1 |
X-37664399-C-A |
c.1292C>A |
p.A431D |
Missense |
10/13 |
- |
1 |
X-37664399-CC-AG |
c.1292_1293delinsAG |
p.A431E |
Missense |
10/13 |
- |
1 |
X-37664399-C-G |
c.1292C>G |
p.A431G |
Missense |
10/13 |
- |
1 |
X-37664399-C-T |
c.1292C>T |
p.A431V |
Missense |
10/13 |
- |
1 |
X-37664401-A-C |
c.1294A>C |
p.T432P |
Missense |
10/13 |
- |
1 |
X-37664401-AC-CA |
c.1294_1295delinsCA |
p.T432H |
Missense |
10/13 |
- |
1 |
X-37664401-ACC-CAA |
c.1294_1296delinsCAA |
p.T432Q |
Missense |
10/13 |
- |
1 |
X-37664401-ACC-GAG |
c.1294_1296delinsGAG |
p.T432E |
Missense |
10/13 |
- |
1 |
X-37664401-AC-CT |
c.1294_1295delinsCT |
p.T432L |
Missense |
10/13 |
- |
1 |
X-37664401-ACC-TGG |
c.1294_1296delinsTGG |
p.T432W |
Missense |
10/13 |
- |
1 |
X-37664401-AC-GA |
c.1294_1295delinsGA |
p.T432D |
Missense |
10/13 |
- |
1 |
X-37664401-AC-GG |
c.1294_1295delinsGG |
p.T432G |
Missense |
10/13 |
- |
1 |
X-37664401-AC-GT |
c.1294_1295inv |
p.T432V |
Missense |
10/13 |
- |
1 |
X-37664401-AC-TA |
c.1294_1295delinsTA |
p.T432Y |
Missense |
10/13 |
- |
1 |
X-37664401-AC-TG |
c.1294_1295delinsTG |
p.T432C |
Missense |
10/13 |
- |
1 |
X-37664401-AC-TT |
c.1294_1295delinsTT |
p.T432F |
Missense |
10/13 |
- |
1 |
X-37664401-A-G |
c.1294A>G |
p.T432A |
Missense |
10/13 |
- |
1 |
X-37664401-CA-C |
c.1294del |
p.T432Pfs*3 |
Frameshift |
10/13 |
- |
1 |
X-37664401-A-T |
c.1294A>T |
p.T432S |
Missense |
10/13 |
- |
1 |
X-37664402-C-A |
c.1295C>A |
p.T432N |
Missense |
10/13 |
- |
1 |
X-37664402-CC-AG |
c.1295_1296delinsAG |
p.T432K |
Missense |
10/13 |
- |
1 |
X-37664402-CC-GG |
c.1295_1296inv |
p.T432R |
Missense |
10/13 |
- |
1 |
X-37664402-CC-TG |
c.1295_1296delinsTG |
p.T432M |
Missense |
10/13 |
- |
1 |
X-37664402-C-G |
c.1295C>G |
p.T432S |
Missense |
10/13 |
- |
1 |
X-37664402-C-T |
c.1295C>T |
p.T432I |
Missense |
10/13 |
- |
1 |
X-37664404-AA-CC |
c.1297_1298delinsCC |
p.N433P |
Missense |
10/13 |
- |
1 |
X-37664404-AA-CT |
c.1297_1298delinsCT |
p.N433L |
Missense |
10/13 |
- |
1 |
X-37664404-AA-GC |
c.1297_1298delinsGC |
p.N433A |
Missense |
10/13 |
- |
1 |
X-37664404-AA-GG |
c.1297_1298delinsGG |
p.N433G |
Missense |
10/13 |
- |
1 |
X-37664404-AA-GT |
c.1297_1298delinsGT |
p.N433V |
Missense |
10/13 |
- |
1 |
X-37664404-AAT-CAA |
c.1297_1299delinsCAA |
p.N433Q |
Missense |
10/13 |
- |
1 |
X-37664404-AA-TG |
c.1297_1298delinsTG |
p.N433C |
Missense |
10/13 |
- |
1 |
X-37664404-AAT-GAG |
c.1297_1299delinsGAG |
p.N433E |
Missense |
10/13 |
- |
1 |
X-37664404-AA-TT |
c.1297_1298inv |
p.N433F |
Missense |
10/13 |
- |
1 |
X-37664404-AAT-TGG |
c.1297_1299delinsTGG |
p.N433W |
Missense |
10/13 |
- |
1 |
X-37664404-A-C |
c.1297A>C |
p.N433H |
Missense |
10/13 |
- |
1 |
X-37664404-A-G |
c.1297A>G |
p.N433D |
Missense |
10/13 |
- |
1 |
X-37664404-A-T |
c.1297A>T |
p.N433Y |
Missense |
10/13 |
- |
1 |
X-37664405-A-C |
c.1298A>C |
p.N433T |
Missense |
10/13 |
- |
1 |
X-37664405-A-G |
c.1298A>G |
p.N433S |
Missense |
10/13 |
- |
2 |
X-37664405-A-T |
c.1298A>T |
p.N433I |
Missense |
10/13 |
- |
1 |
X-37664405-AT-GG |
c.1298_1299delinsGG |
p.N433R |
Missense |
10/13 |
- |
1 |
X-37664405-AT-TG |
c.1298_1299delinsTG |
p.N433M |
Missense |
10/13 |
- |
1 |
X-37664406-T-A |
c.1299T>A |
p.N433K |
Missense |
10/13 |
- |
1 |
X-37664406-T-G |
c.1299T>G |
p.N433K |
Missense |
10/13 |
- |
1 |
X-37664407-C-A |
c.1300C>A |
p.L434M |
Missense |
10/13 |
- |
1 |
X-37664407-C-G |
c.1300C>G |
p.L434V |
Missense |
10/13 |
- |
1 |
X-37664407-CT-AA |
c.1300_1301delinsAA |
p.L434K |
Missense |
10/13 |
- |
1 |
X-37664407-CT-AC |
c.1300_1301delinsAC |
p.L434T |
Missense |
10/13 |
- |
1 |
X-37664407-CT-GA |
c.1300_1301delinsGA |
p.L434E |
Missense |
10/13 |
- |
1 |
X-37664407-CTG-AAC |
c.1300_1302delinsAAC |
p.L434N |
Missense |
10/13 |
- |
1 |
X-37664407-CTG-ATC |
c.1300_1302delinsATC |
p.L434I |
Missense |
10/13 |
- |
1 |
X-37664407-CT-GC |
c.1300_1301delinsGC |
p.L434A |
Missense |
10/13 |
- |
1 |
X-37664407-CT-GG |
c.1300_1301delinsGG |
p.L434G |
Missense |
10/13 |
- |
1 |
X-37664407-CTG-GAC |
c.1300_1302delinsGAC |
p.L434D |
Missense |
10/13 |
- |
1 |
X-37664407-CTG-TAT |
c.1300_1302delinsTAT |
p.L434Y |
Missense |
10/13 |
- |
1 |
X-37664407-CTG-TGT |
c.1300_1302delinsTGT |
p.L434C |
Missense |
10/13 |
- |
1 |
X-37664407-CTG-TTT |
c.1300_1302delinsTTT |
p.L434F |
Missense |
10/13 |
- |
1 |
X-37664407-CT-TC |
c.1300_1301delinsTC |
p.L434S |
Missense |
10/13 |
- |
1 |
X-37664407-CT-TG |
c.1300_1301delinsTG |
p.L434W |
Missense |
10/13 |
- |
1 |
X-37664408-T-A |
c.1301T>A |
p.L434Q |
Missense |
10/13 |
- |
1 |
X-37664408-T-C |
c.1301T>C |
p.L434P |
Missense |
10/13 |
- |
1 |
X-37664408-T-G |
c.1301T>G |
p.L434R |
Missense |
10/13 |
- |
1 |
X-37664408-TG-AT |
c.1301_1302delinsAT |
p.L434H |
Missense |
10/13 |
- |
1 |
X-37664410-AA-CC |
c.1303_1304delinsCC |
p.K435P |
Missense |
10/13 |
- |
1 |
X-37664410-AA-CT |
c.1303_1304delinsCT |
p.K435L |
Missense |
10/13 |
- |
1 |
X-37664410-AA-GC |
c.1303_1304delinsGC |
p.K435A |
Missense |
10/13 |
- |
1 |
X-37664410-AAG-CAT |
c.1303_1305delinsCAT |
p.K435H |
Missense |
10/13 |
- |
1 |
X-37664410-AA-GG |
c.1303_1304delinsGG |
p.K435G |
Missense |
10/13 |
- |
1 |
X-37664410-AAG-GAC |
c.1303_1305delinsGAC |
p.K435D |
Missense |
10/13 |
- |
1 |
X-37664410-AA-GT |
c.1303_1304delinsGT |
p.K435V |
Missense |
10/13 |
- |
1 |
X-37664410-AAG-TAT |
c.1303_1305delinsTAT |
p.K435Y |
Missense |
10/13 |
- |
1 |
X-37664410-AAG-TGT |
c.1303_1305delinsTGT |
p.K435C |
Missense |
10/13 |
- |
1 |
X-37664410-AAG-TTT |
c.1303_1305delinsTTT |
p.K435F |
Missense |
10/13 |
- |
1 |
X-37664410-AA-TG |
c.1303_1304delinsTG |
p.K435W |
Missense |
10/13 |
- |
1 |
X-37664410-A-C |
c.1303A>C |
p.K435Q |
Missense |
10/13 |
- |
1 |
X-37664410-A-G |
c.1303A>G |
p.K435E |
Missense |
10/13 |
- |
1 |
X-37664411-A-C |
c.1304A>C |
p.K435T |
Missense |
10/13 |
- |
1 |
X-37664411-A-G |
c.1304A>G |
p.K435R |
Missense |
10/13 |
- |
1 |
X-37664411-AG-GC |
c.1304_1305delinsGC |
p.K435S |
Missense |
10/13 |
- |
1 |
X-37664411-AG-TC |
c.1304_1305delinsTC |
p.K435I |
Missense |
10/13 |
- |
1 |
X-37664411-A-T |
c.1304A>T |
p.K435M |
Missense |
10/13 |
- |
1 |
X-37664412-G-C |
c.1305G>C |
p.K435N |
Missense |
10/13 |
- |
1 |
X-37664412-G-T |
c.1305G>T |
p.K435N |
Missense |
10/13 |
- |
1 |
X-37664413-C-A |
c.1306C>A |
p.L436I |
Missense |
10/13 |
- |
1 |
X-37664413-C-G |
c.1306C>G |
p.L436V |
Missense |
10/13 |
- |
1 |
X-37664413-C-T |
c.1306C>T |
p.L436F |
Missense |
10/13 |
- |
1 |
X-37664413-CT-AA |
c.1306_1307delinsAA |
p.L436N |
Missense |
10/13 |
- |
1 |
X-37664413-CT-AC |
c.1306_1307delinsAC |
p.L436T |
Missense |
10/13 |
- |
1 |
X-37664413-CT-AG |
c.1306_1307inv |
p.L436S |
Missense |
10/13 |
- |
1 |
X-37664413-CTC-AAG |
c.1306_1308delinsAAG |
p.L436K |
Missense |
10/13 |
- |
1 |
X-37664413-CTC-ATG |
c.1306_1308delinsATG |
p.L436M |
Missense |
10/13 |
- |
1 |
X-37664413-CTC-GAG |
c.1306_1308inv |
p.L436E |
Missense |
10/13 |
- |
1 |
X-37664413-CTC-TGG |
c.1306_1308delinsTGG |
p.L436W |
Missense |
10/13 |
- |
1 |
X-37664413-CT-GA |
c.1306_1307delinsGA |
p.L436D |
Missense |
10/13 |
- |
1 |
X-37664413-CT-GC |
c.1306_1307delinsGC |
p.L436A |
Missense |
10/13 |
- |
1 |
X-37664413-CT-GG |
c.1306_1307delinsGG |
p.L436G |
Missense |
10/13 |
- |
1 |
X-37664413-CT-TA |
c.1306_1307delinsTA |
p.L436Y |
Missense |
10/13 |
- |
1 |
X-37664413-CT-TG |
c.1306_1307delinsTG |
p.L436C |
Missense |
10/13 |
- |
1 |
X-37664414-T-A |
c.1307T>A |
p.L436H |
Missense |
10/13 |
- |
1 |
X-37664414-T-C |
c.1307T>C |
p.L436P |
Missense |
10/13 |
- |
1 |
X-37664414-TC-AA |
c.1307_1308delinsAA |
p.L436Q |
Missense |
10/13 |
- |
1 |
X-37664414-T-G |
c.1307T>G |
p.L436R |
Missense |
10/13 |
- |
1 |
X-37664416-AAA-CAT |
c.1309_1311delinsCAT |
p.K437H |
Missense |
10/13 |
- |
1 |
X-37664416-AAA-GAC |
c.1309_1311delinsGAC |
p.K437D |
Missense |
10/13 |
- |
1 |
X-37664416-AAA-TAT |
c.1309_1311delinsTAT |
p.K437Y |
Missense |
10/13 |
- |
1 |
X-37664416-AAA-TGG |
c.1309_1311delinsTGG |
p.K437W |
Missense |
10/13 |
- |
1 |
X-37664416-AAA-TGT |
c.1309_1311delinsTGT |
p.K437C |
Missense |
10/13 |
- |
1 |
X-37664416-AAA-TTT |
c.1309_1311inv |
p.K437F |
Missense |
10/13 |
- |
1 |
X-37664416-AA-CC |
c.1309_1310delinsCC |
p.K437P |
Missense |
10/13 |
- |
1 |
X-37664416-AA-CT |
c.1309_1310delinsCT |
p.K437L |
Missense |
10/13 |
- |
1 |
X-37664416-AA-GC |
c.1309_1310delinsGC |
p.K437A |
Missense |
10/13 |
- |
1 |
X-37664416-AA-GG |
c.1309_1310delinsGG |
p.K437G |
Missense |
10/13 |
- |
1 |
X-37664416-AA-GT |
c.1309_1310delinsGT |
p.K437V |
Missense |
10/13 |
- |
1 |
X-37664416-A-C |
c.1309A>C |
p.K437Q |
Missense |
10/13 |
- |
1 |
X-37664416-A-G |
c.1309A>G |
p.K437E |
Missense |
10/13 |
- |
1 |
X-37664416-A-T |
c.1309A>T |
p.K437* |
Nonsense |
10/13 |
- |
1 |
X-37664417-AA-GC |
c.1310_1311delinsGC |
p.K437S |
Missense |
10/13 |
- |
1 |
X-37664417-AA-TG |
c.1310_1311delinsTG |
p.K437M |
Missense |
10/13 |
- |
1 |
X-37664417-A-C |
c.1310A>C |
p.K437T |
Missense |
10/13 |
- |
1 |
X-37664417-A-G |
c.1310A>G |
p.K437R |
Missense |
10/13 |
- |
1 |
X-37664417-A-T |
c.1310A>T |
p.K437I |
Missense |
10/13 |
- |
1 |
X-37664418-A-C |
c.1311A>C |
p.K437N |
Missense |
10/13 |
- |
1 |
X-37664418-A-T |
c.1311A>T |
p.K437N |
Missense |
10/13 |
- |
1 |
X-37664419-AA-CC |
c.1312_1313delinsCC |
p.K438P |
Missense |
10/13 |
- |
1 |
X-37664419-AA-CT |
c.1312_1313delinsCT |
p.K438L |
Missense |
10/13 |
- |
1 |
X-37664419-AA-GC |
c.1312_1313delinsGC |
p.K438A |
Missense |
10/13 |
- |
1 |
X-37664419-AAG-CAT |
c.1312_1314delinsCAT |
p.K438H |
Missense |
10/13 |
- |
1 |
X-37664419-AA-GG |
c.1312_1313delinsGG |
p.K438G |
Missense |
10/13 |
- |
1 |
X-37664419-AAG-GAC |
c.1312_1314delinsGAC |
p.K438D |
Missense |
10/13 |
- |
1 |
X-37664419-AA-GT |
c.1312_1313delinsGT |
p.K438V |
Missense |
10/13 |
- |
1 |
X-37664419-AAG-TAT |
c.1312_1314delinsTAT |
p.K438Y |
Missense |
10/13 |
- |
1 |
X-37664419-AAG-TGT |
c.1312_1314delinsTGT |
p.K438C |
Missense |
10/13 |
- |
1 |
X-37664419-AAG-TTT |
c.1312_1314delinsTTT |
p.K438F |
Missense |
10/13 |
- |
1 |
X-37664419-AA-TG |
c.1312_1313delinsTG |
p.K438W |
Missense |
10/13 |
- |
1 |
X-37664419-A-C |
c.1312A>C |
p.K438Q |
Missense |
10/13 |
- |
1 |
X-37664419-A-G |
c.1312A>G |
p.K438E |
Missense |
10/13 |
- |
1 |
X-37664415-CA-C |
c.1313del |
p.K438Rfs*64 |
Frameshift |
10/13 |
- |
3 |
X-37664415-C-CA |
c.1313dup |
p.I439Dfs*14 |
SpliceDonorInsertion |
10/13 |
- |
1 |
X-37664420-A-C |
c.1313A>C |
p.K438T |
Missense |
10/13 |
- |
2 |
X-37664420-A-G |
c.1313A>G |
p.K438R |
Missense |
10/13 |
- |
2 |
X-37664420-AG-GC |
c.1313_1314delinsGC |
p.K438S |
Missense |
10/13 |
- |
1 |
X-37664420-AG-T |
c.1313_1314delinsT |
p.K438Ifs*64 |
SpliceDonorBlockSubstitution |
10/13 |
- |
1 |
X-37664420-AG-TC |
c.1313_1314delinsTC |
p.K438I |
Missense |
10/13 |
- |
1 |
X-37664420-A-T |
c.1313A>T |
p.K438M |
Missense |
10/13 |
- |
1 |
X-37664421-G-C |
c.1314G>C |
p.K438N |
Missense |
10/13 |
- |
1 |
X-37664421-G-T |
c.1314G>T |
p.K438N |
Missense |
10/13 |
- |
1 |
X-37664420-AG-A |
c.1314+1del |
- |
Frameshift |
- |
10/12 |
3 |
X-37664422-G-A |
c.1314+1G>A |
- |
IntronicSNV |
- |
10/12 |
1 |
X-37664422-G-C |
c.1314+1G>C |
- |
IntronicSNV |
- |
10/12 |
1 |
X-37664422-G-T |
c.1314+1G>T |
- |
IntronicSNV |
- |
10/12 |
1 |
X-37664423-T-A |
c.1314+2T>A |
- |
IntronicSNV |
- |
10/12 |
2 |
X-37664423-T-G |
c.1314+2T>G |
- |
IntronicSNV |
- |
10/12 |
3 |
X-37664440-C-T |
c.1314+19C>T |
- |
IntronicSNV |
- |
10/12 |
2 |
X-37665640-A-C |
c.1315A>C |
p.I439L |
Missense |
11/13 |
- |
1 |
X-37665640-A-G |
c.1315A>G |
p.I439V |
Missense |
11/13 |
- |
3 |
X-37665640-A-T |
c.1315A>T |
p.I439F |
Missense |
11/13 |
- |
1 |
X-37665640-AT-CA |
c.1315_1316delinsCA |
p.I439H |
Missense |
11/13 |
- |
1 |
X-37665640-AT-CC |
c.1315_1316delinsCC |
p.I439P |
Missense |
11/13 |
- |
1 |
X-37665640-ATC-CAA |
c.1315_1317delinsCAA |
p.I439Q |
Missense |
11/13 |
- |
1 |
X-37665640-ATC-GAG |
c.1315_1317delinsGAG |
p.I439E |
Missense |
11/13 |
- |
1 |
X-37665640-ATC-TGG |
c.1315_1317delinsTGG |
p.I439W |
Missense |
11/13 |
- |
1 |
X-37665640-AT-GA |
c.1315_1316delinsGA |
p.I439D |
Missense |
11/13 |
- |
1 |
X-37665640-AT-GC |
c.1315_1316delinsGC |
p.I439A |
Missense |
11/13 |
- |
1 |
X-37665640-AT-GG |
c.1315_1316delinsGG |
p.I439G |
Missense |
11/13 |
- |
1 |
X-37665640-AT-TA |
c.1315_1316delinsTA |
p.I439Y |
Missense |
11/13 |
- |
1 |
X-37665640-AT-TG |
c.1315_1316delinsTG |
p.I439C |
Missense |
11/13 |
- |
1 |
X-37665640-GA-G |
c.1315del |
p.I439Sfs*63 |
Frameshift |
11/13 |
- |
1 |
X-37665640-GATCTACTTCTACTGGCTGTGCCGGGACACACATGCCTTTGAGTGGTTTGCAGATCTGCT-G |
c.1315_1373del |
p.I439Afs*27 |
InFrameDeletion |
11/13 |
- |
1 |
X-37665641-T-A |
c.1316T>A |
p.I439N |
Missense |
11/13 |
- |
1 |
X-37665641-T-C |
c.1316T>C |
p.I439T |
Missense |
11/13 |
- |
1 |
X-37665641-TC-AG |
c.1316_1317delinsAG |
p.I439K |
Missense |
11/13 |
- |
1 |
X-37665641-TC-GG |
c.1316_1317delinsGG |
p.I439R |
Missense |
11/13 |
- |
1 |
X-37665641-T-G |
c.1316T>G |
p.I439S |
Missense |
11/13 |
- |
1 |
X-37665642-C-A |
c.1317C>A |
p.I439= |
Synonymous |
11/13 |
- |
1 |
X-37665642-C-G |
c.1317C>G |
p.I439M |
Missense |
11/13 |
- |
1 |
X-37665643-T-A |
c.1318T>A |
p.Y440N |
Missense |
11/13 |
- |
1 |
X-37665643-TA-AC |
c.1318_1319delinsAC |
p.Y440T |
Missense |
11/13 |
- |
1 |
X-37665643-TA-AT |
c.1318_1319delinsAT |
p.Y440I |
Missense |
11/13 |
- |
1 |
X-37665643-TAC-AAG |
c.1318_1320delinsAAG |
p.Y440K |
Missense |
11/13 |
- |
1 |
X-37665643-TAC-ATG |
c.1318_1320delinsATG |
p.Y440M |
Missense |
11/13 |
- |
1 |
X-37665643-TA-CC |
c.1318_1319delinsCC |
p.Y440P |
Missense |
11/13 |
- |
1 |
X-37665643-TAC-CAA |
c.1318_1320delinsCAA |
p.Y440Q |
Missense |
11/13 |
- |
1 |
X-37665643-TA-CG |
c.1318_1319delinsCG |
p.Y440R |
Missense |
11/13 |
- |
1 |
X-37665643-TAC-GAG |
c.1318_1320delinsGAG |
p.Y440E |
Missense |
11/13 |
- |
1 |
X-37665643-TA-CT |
c.1318_1319delinsCT |
p.Y440L |
Missense |
11/13 |
- |
1 |
X-37665643-TA-GC |
c.1318_1319delinsGC |
p.Y440A |
Missense |
11/13 |
- |
1 |
X-37665643-TA-GG |
c.1318_1319delinsGG |
p.Y440G |
Missense |
11/13 |
- |
1 |
X-37665643-TA-GT |
c.1318_1319delinsGT |
p.Y440V |
Missense |
11/13 |
- |
1 |
X-37665643-T-C |
c.1318T>C |
p.Y440H |
Missense |
11/13 |
- |
1 |
X-37665643-T-G |
c.1318T>G |
p.Y440D |
Missense |
11/13 |
- |
1 |
X-37665644-A-C |
c.1319A>C |
p.Y440S |
Missense |
11/13 |
- |
1 |
X-37665644-AC-GG |
c.1319_1320delinsGG |
p.Y440W |
Missense |
11/13 |
- |
1 |
X-37665644-A-G |
c.1319A>G |
p.Y440C |
Missense |
11/13 |
- |
1 |
X-37665644-A-T |
c.1319A>T |
p.Y440F |
Missense |
11/13 |
- |
1 |
X-37665645-C-A |
c.1320C>A |
p.Y440* |
Nonsense |
11/13 |
- |
2 |
X-37665645-C-G |
c.1320C>G |
p.Y440* |
Nonsense |
11/13 |
- |
2 |
X-37665646-T-A |
c.1321T>A |
p.F441I |
Missense |
11/13 |
- |
1 |
X-37665646-T-C |
c.1321T>C |
p.F441L |
Missense |
11/13 |
- |
1 |
X-37665646-T-G |
c.1321T>G |
p.F441V |
Missense |
11/13 |
- |
1 |
X-37665646-TT-AA |
c.1321_1322inv |
p.F441N |
Missense |
11/13 |
- |
1 |
X-37665646-TT-AC |
c.1321_1322delinsAC |
p.F441T |
Missense |
11/13 |
- |
1 |
X-37665646-TT-CA |
c.1321_1322delinsCA |
p.F441H |
Missense |
11/13 |
- |
1 |
X-37665646-TTC-AAG |
c.1321_1323delinsAAG |
p.F441K |
Missense |
11/13 |
- |
1 |
X-37665646-TTC-ATG |
c.1321_1323delinsATG |
p.F441M |
Missense |
11/13 |
- |
1 |
X-37665646-TT-CC |
c.1321_1322delinsCC |
p.F441P |
Missense |
11/13 |
- |
1 |
X-37665646-TTC-CAA |
c.1321_1323delinsCAA |
p.F441Q |
Missense |
11/13 |
- |
1 |
X-37665646-TT-CG |
c.1321_1322delinsCG |
p.F441R |
Missense |
11/13 |
- |
1 |
X-37665646-TTC-GAG |
c.1321_1323delinsGAG |
p.F441E |
Missense |
11/13 |
- |
1 |
X-37665646-TT-GA |
c.1321_1322delinsGA |
p.F441D |
Missense |
11/13 |
- |
1 |
X-37665646-TT-GC |
c.1321_1322delinsGC |
p.F441A |
Missense |
11/13 |
- |
2 |
X-37665646-TT-GG |
c.1321_1322delinsGG |
p.F441G |
Missense |
11/13 |
- |
1 |
X-37665648-C-A |
c.1323C>A |
p.F441L |
Missense |
11/13 |
- |
1 |
X-37665648-C-G |
c.1323C>G |
p.F441L |
Missense |
11/13 |
- |
1 |
X-37665644-ACTT-A |
c.1322_1324del |
p.F441del |
InFrameDeletion |
11/13 |
- |
2 |
X-37665647-T-A |
c.1322T>A |
p.F441Y |
Missense |
11/13 |
- |
1 |
X-37665647-T-C |
c.1322T>C |
p.F441S |
Missense |
11/13 |
- |
1 |
X-37665647-TC-GG |
c.1322_1323delinsGG |
p.F441W |
Missense |
11/13 |
- |
1 |
X-37665647-T-G |
c.1322T>G |
p.F441C |
Missense |
11/13 |
- |
1 |
X-37665649-T-A |
c.1324T>A |
p.Y442N |
Missense |
11/13 |
- |
1 |
X-37665649-TA-AC |
c.1324_1325delinsAC |
p.Y442T |
Missense |
11/13 |
- |
1 |
X-37665649-TA-AT |
c.1324_1325delinsAT |
p.Y442I |
Missense |
11/13 |
- |
1 |
X-37665649-TAC-AAG |
c.1324_1326delinsAAG |
p.Y442K |
Missense |
11/13 |
- |
1 |
X-37665649-TAC-ATG |
c.1324_1326delinsATG |
p.Y442M |
Missense |
11/13 |
- |
1 |
X-37665649-TA-CC |
c.1324_1325delinsCC |
p.Y442P |
Missense |
11/13 |
- |
1 |
X-37665649-TAC-CAA |
c.1324_1326delinsCAA |
p.Y442Q |
Missense |
11/13 |
- |
1 |
X-37665649-TA-CG |
c.1324_1325delinsCG |
p.Y442R |
Missense |
11/13 |
- |
1 |
X-37665649-TAC-GAG |
c.1324_1326delinsGAG |
p.Y442E |
Missense |
11/13 |
- |
1 |
X-37665649-TA-CT |
c.1324_1325delinsCT |
p.Y442L |
Missense |
11/13 |
- |
1 |
X-37665649-TA-GC |
c.1324_1325delinsGC |
p.Y442A |
Missense |
11/13 |
- |
1 |
X-37665649-TA-GG |
c.1324_1325delinsGG |
p.Y442G |
Missense |
11/13 |
- |
1 |
X-37665649-TA-GT |
c.1324_1325delinsGT |
p.Y442V |
Missense |
11/13 |
- |
1 |
X-37665649-T-C |
c.1324T>C |
p.Y442H |
Missense |
11/13 |
- |
1 |
X-37665649-T-G |
c.1324T>G |
p.Y442D |
Missense |
11/13 |
- |
1 |
X-37665650-A-C |
c.1325A>C |
p.Y442S |
Missense |
11/13 |
- |
1 |
X-37665650-AC-GG |
c.1325_1326delinsGG |
p.Y442W |
Missense |
11/13 |
- |
1 |
X-37665650-A-G |
c.1325A>G |
p.Y442C |
Missense |
11/13 |
- |
1 |
X-37665650-A-T |
c.1325A>T |
p.Y442F |
Missense |
11/13 |
- |
1 |
X-37665651-C-A |
c.1326C>A |
p.Y442* |
Nonsense |
11/13 |
- |
1 |
X-37665651-C-G |
c.1326C>G |
p.Y442* |
Nonsense |
11/13 |
- |
1 |
X-37665652-CT-C |
c.1327del |
p.W443Gfs*59 |
Frameshift |
11/13 |
- |
3 |
X-37665652-T-A |
c.1327T>A |
p.W443R |
Missense |
11/13 |
- |
2 |
X-37665652-T-C |
c.1327T>C |
p.W443R |
Missense |
11/13 |
- |
2 |
X-37665652-T-G |
c.1327T>G |
p.W443G |
Missense |
11/13 |
- |
1 |
X-37665652-TG-AA |
c.1327_1328delinsAA |
p.W443K |
Missense |
11/13 |
- |
1 |
X-37665652-TG-AC |
c.1327_1328delinsAC |
p.W443T |
Missense |
11/13 |
- |
1 |
X-37665652-TG-AT |
c.1327_1328delinsAT |
p.W443M |
Missense |
11/13 |
- |
1 |
X-37665652-TG-CA |
c.1327_1328inv |
p.W443Q |
Missense |
11/13 |
- |
1 |
X-37665652-TG-CC |
c.1327_1328delinsCC |
p.W443P |
Missense |
11/13 |
- |
1 |
X-37665652-TG-GA |
c.1327_1328delinsGA |
p.W443E |
Missense |
11/13 |
- |
1 |
X-37665652-TGG-AAC |
c.1327_1329delinsAAC |
p.W443N |
Missense |
11/13 |
- |
1 |
X-37665652-TGG-ATC |
c.1327_1329delinsATC |
p.W443I |
Missense |
11/13 |
- |
1 |
X-37665652-TG-GC |
c.1327_1328delinsGC |
p.W443A |
Missense |
11/13 |
- |
1 |
X-37665652-TGG-CAT |
c.1327_1329delinsCAT |
p.W443H |
Missense |
11/13 |
- |
1 |
X-37665652-TGG-GAC |
c.1327_1329delinsGAC |
p.W443D |
Missense |
11/13 |
- |
1 |
X-37665652-TG-GT |
c.1327_1328delinsGT |
p.W443V |
Missense |
11/13 |
- |
1 |
X-37665653-G-A |
c.1328G>A |
p.W443* |
Nonsense |
11/13 |
- |
4 |
X-37665653-G-C |
c.1328G>C |
p.W443S |
Missense |
11/13 |
- |
2 |
X-37665653-GG-AT |
c.1328_1329delinsAT |
p.W443Y |
Missense |
11/13 |
- |
1 |
X-37665653-GG-TT |
c.1328_1329delinsTT |
p.W443F |
Missense |
11/13 |
- |
1 |
X-37665653-G-T |
c.1328G>T |
p.W443L |
Missense |
11/13 |
- |
1 |
X-37665654-G-A |
c.1329G>A |
p.W443* |
Nonsense |
11/13 |
- |
2 |
X-37665654-G-C |
c.1329G>C |
p.W443C |
Missense |
11/13 |
- |
1 |
X-37665654-G-T |
c.1329G>T |
p.W443C |
Missense |
11/13 |
- |
1 |
X-37665655-C-A |
c.1330C>A |
p.L444M |
Missense |
11/13 |
- |
1 |
X-37665655-C-G |
c.1330C>G |
p.L444V |
Missense |
11/13 |
- |
1 |
X-37665655-C-T |
c.1330C>T |
p.L444= |
Synonymous |
11/13 |
- |
1 |
X-37665655-CT-AA |
c.1330_1331delinsAA |
p.L444K |
Missense |
11/13 |
- |
1 |
X-37665655-CT-AC |
c.1330_1331delinsAC |
p.L444T |
Missense |
11/13 |
- |
1 |
X-37665655-CT-GA |
c.1330_1331delinsGA |
p.L444E |
Missense |
11/13 |
- |
1 |
X-37665655-CTG-AAC |
c.1330_1332delinsAAC |
p.L444N |
Missense |
11/13 |
- |
1 |
X-37665655-CTG-ATC |
c.1330_1332delinsATC |
p.L444I |
Missense |
11/13 |
- |
1 |
X-37665655-CT-GC |
c.1330_1331delinsGC |
p.L444A |
Missense |
11/13 |
- |
1 |
X-37665655-CT-GG |
c.1330_1331delinsGG |
p.L444G |
Missense |
11/13 |
- |
1 |
X-37665655-CTG-GAC |
c.1330_1332delinsGAC |
p.L444D |
Missense |
11/13 |
- |
1 |
X-37665655-CTG-TAT |
c.1330_1332delinsTAT |
p.L444Y |
Missense |
11/13 |
- |
1 |
X-37665655-CTG-TGT |
c.1330_1332delinsTGT |
p.L444C |
Missense |
11/13 |
- |
1 |
X-37665655-CTG-TTT |
c.1330_1332delinsTTT |
p.L444F |
Missense |
11/13 |
- |
1 |
X-37665655-CT-TC |
c.1330_1331delinsTC |
p.L444S |
Missense |
11/13 |
- |
1 |
X-37665655-CT-TG |
c.1330_1331delinsTG |
p.L444W |
Missense |
11/13 |
- |
1 |
X-37665656-T-A |
c.1331T>A |
p.L444Q |
Missense |
11/13 |
- |
1 |
X-37665656-T-C |
c.1331T>C |
p.L444P |
Missense |
11/13 |
- |
2 |
X-37665656-T-G |
c.1331T>G |
p.L444R |
Missense |
11/13 |
- |
1 |
X-37665656-TG-AT |
c.1331_1332delinsAT |
p.L444H |
Missense |
11/13 |
- |
1 |
X-37665657-TG-T |
c.1332del |
p.C445Afs*57 |
Frameshift |
11/13 |
- |
2 |
X-37665658-T-A |
c.1333T>A |
p.C445S |
Missense |
11/13 |
- |
1 |
X-37665658-T-C |
c.1333T>C |
p.C445R |
Missense |
11/13 |
- |
4 |
X-37665658-T-G |
c.1333T>G |
p.C445G |
Missense |
11/13 |
- |
1 |
X-37665658-TG-AA |
c.1333_1334delinsAA |
p.C445N |
Missense |
11/13 |
- |
1 |
X-37665658-TG-AC |
c.1333_1334delinsAC |
p.C445T |
Missense |
11/13 |
- |
1 |
X-37665658-TG-AT |
c.1333_1334delinsAT |
p.C445I |
Missense |
11/13 |
- |
1 |
X-37665658-TG-CA |
c.1333_1334inv |
p.C445H |
Missense |
11/13 |
- |
1 |
X-37665658-TGC-AAG |
c.1333_1335delinsAAG |
p.C445K |
Missense |
11/13 |
- |
1 |
X-37665658-TGC-ATG |
c.1333_1335delinsATG |
p.C445M |
Missense |
11/13 |
- |
1 |
X-37665658-TG-CC |
c.1333_1334delinsCC |
p.C445P |
Missense |
11/13 |
- |
1 |
X-37665658-TGC-CAA |
c.1333_1335delinsCAA |
p.C445Q |
Missense |
11/13 |
- |
1 |
X-37665658-TGC-GAG |
c.1333_1335delinsGAG |
p.C445E |
Missense |
11/13 |
- |
1 |
X-37665658-TG-CT |
c.1333_1334delinsCT |
p.C445L |
Missense |
11/13 |
- |
1 |
X-37665658-TG-GA |
c.1333_1334delinsGA |
p.C445D |
Missense |
11/13 |
- |
1 |
X-37665658-TG-GC |
c.1333_1334delinsGC |
p.C445A |
Missense |
11/13 |
- |
1 |
X-37665658-TG-GT |
c.1333_1334delinsGT |
p.C445V |
Missense |
11/13 |
- |
1 |
X-37665659-G-C |
c.1334G>C |
p.C445S |
Missense |
11/13 |
- |
1 |
X-37665659-G-A |
c.1334G>A |
p.C445Y |
Missense |
11/13 |
- |
1 |
X-37665659-G-T |
c.1334G>T |
p.C445F |
Missense |
11/13 |
- |
1 |
X-37665660-C-A |
c.1335C>A |
p.C445* |
Nonsense |
11/13 |
- |
3 |
X-37665660-C-G |
c.1335C>G |
p.C445W |
Missense |
11/13 |
- |
1 |
X-37665661-C-A |
c.1336C>A |
p.R446= |
Synonymous |
11/13 |
- |
1 |
X-37665661-C-G |
c.1336C>G |
p.R446G |
Missense |
11/13 |
- |
1 |
X-37665661-CG-AA |
c.1336_1337delinsAA |
p.R446K |
Missense |
11/13 |
- |
1 |
X-37665661-CG-AC |
c.1336_1337delinsAC |
p.R446T |
Missense |
11/13 |
- |
1 |
X-37665661-CG-AT |
c.1336_1337delinsAT |
p.R446M |
Missense |
11/13 |
- |
1 |
X-37665661-CG-GA |
c.1336_1337delinsGA |
p.R446E |
Missense |
11/13 |
- |
1 |
X-37665661-CGG-AAC |
c.1336_1338delinsAAC |
p.R446N |
Missense |
11/13 |
- |
1 |
X-37665661-CGG-AGC |
c.1336_1338delinsAGC |
p.R446S |
Missense |
11/13 |
- |
1 |
X-37665661-CGG-ATC |
c.1336_1338delinsATC |
p.R446I |
Missense |
11/13 |
- |
1 |
X-37665661-CG-GC |
c.1336_1337delinsGC |
p.R446A |
Missense |
11/13 |
- |
1 |
X-37665661-CGG-GAC |
c.1336_1338delinsGAC |
p.R446D |
Missense |
11/13 |
- |
1 |
X-37665661-CG-GT |
c.1336_1337delinsGT |
p.R446V |
Missense |
11/13 |
- |
1 |
X-37665661-CGG-TAT |
c.1336_1338delinsTAT |
p.R446Y |
Missense |
11/13 |
- |
1 |
X-37665661-CGG-TGT |
c.1336_1338delinsTGT |
p.R446C |
Missense |
11/13 |
- |
2 |
X-37665661-CGG-TTT |
c.1336_1338delinsTTT |
p.R446F |
Missense |
11/13 |
- |
1 |
X-37665661-C-T |
c.1336C>T |
p.R446W |
Missense |
11/13 |
- |
1 |
X-37665662-G-A |
c.1337G>A |
p.R446Q |
Missense |
11/13 |
- |
4 |
X-37665662-G-C |
c.1337G>C |
p.R446P |
Missense |
11/13 |
- |
1 |
X-37665662-GG-AT |
c.1337_1338delinsAT |
p.R446H |
Missense |
11/13 |
- |
1 |
X-37665662-G-T |
c.1337G>T |
p.R446L |
Missense |
11/13 |
- |
1 |
X-37665664-G-A |
c.1339G>A |
p.D447N |
Missense |
11/13 |
- |
1 |
X-37665664-GA-AC |
c.1339_1340delinsAC |
p.D447T |
Missense |
11/13 |
- |
1 |
X-37665664-GA-AG |
c.1339_1340delinsAG |
p.D447S |
Missense |
11/13 |
- |
1 |
X-37665664-GA-AT |
c.1339_1340delinsAT |
p.D447I |
Missense |
11/13 |
- |
1 |
X-37665664-GAC-AAG |
c.1339_1341delinsAAG |
p.D447K |
Missense |
11/13 |
- |
1 |
X-37665664-GAC-ATG |
c.1339_1341delinsATG |
p.D447M |
Missense |
11/13 |
- |
1 |
X-37665664-GA-CC |
c.1339_1340delinsCC |
p.D447P |
Missense |
11/13 |
- |
1 |
X-37665664-GAC-CAA |
c.1339_1341delinsCAA |
p.D447Q |
Missense |
11/13 |
- |
1 |
X-37665664-GA-CG |
c.1339_1340delinsCG |
p.D447R |
Missense |
11/13 |
- |
1 |
X-37665664-GA-CT |
c.1339_1340delinsCT |
p.D447L |
Missense |
11/13 |
- |
1 |
X-37665664-GAC-TGG |
c.1339_1341delinsTGG |
p.D447W |
Missense |
11/13 |
- |
1 |
X-37665664-GA-TG |
c.1339_1340delinsTG |
p.D447C |
Missense |
11/13 |
- |
1 |
X-37665664-GA-TT |
c.1339_1340delinsTT |
p.D447F |
Missense |
11/13 |
- |
1 |
X-37665664-G-C |
c.1339G>C |
p.D447H |
Missense |
11/13 |
- |
1 |
X-37665664-G-T |
c.1339G>T |
p.D447Y |
Missense |
11/13 |
- |
1 |
X-37665665-A-C |
c.1340A>C |
p.D447A |
Missense |
11/13 |
- |
1 |
X-37665665-A-G |
c.1340A>G |
p.D447G |
Missense |
11/13 |
- |
1 |
X-37665665-A-T |
c.1340A>T |
p.D447V |
Missense |
11/13 |
- |
2 |
X-37665665-GA-G |
c.1340del |
p.D447Afs*55 |
Frameshift |
11/13 |
- |
1 |
X-37665666-C-A |
c.1341C>A |
p.D447E |
Missense |
11/13 |
- |
1 |
X-37665666-C-G |
c.1341C>G |
p.D447E |
Missense |
11/13 |
- |
1 |
X-37665667-A-C |
c.1342A>C |
p.T448P |
Missense |
11/13 |
- |
1 |
X-37665667-ACA-CAT |
c.1342_1344delinsCAT |
p.T448H |
Missense |
11/13 |
- |
1 |
X-37665667-ACA-GAC |
c.1342_1344delinsGAC |
p.T448D |
Missense |
11/13 |
- |
1 |
X-37665667-ACA-TAT |
c.1342_1344delinsTAT |
p.T448Y |
Missense |
11/13 |
- |
1 |
X-37665667-ACA-TGG |
c.1342_1344delinsTGG |
p.T448W |
Missense |
11/13 |
- |
1 |
X-37665667-ACA-TGT |
c.1342_1344inv |
p.T448C |
Missense |
11/13 |
- |
1 |
X-37665667-ACA-TTT |
c.1342_1344delinsTTT |
p.T448F |
Missense |
11/13 |
- |
1 |
X-37665667-AC-CA |
c.1342_1343delinsCA |
p.T448Q |
Missense |
11/13 |
- |
1 |
X-37665667-AC-CT |
c.1342_1343delinsCT |
p.T448L |
Missense |
11/13 |
- |
1 |
X-37665667-AC-GA |
c.1342_1343delinsGA |
p.T448E |
Missense |
11/13 |
- |
1 |
X-37665667-AC-GG |
c.1342_1343delinsGG |
p.T448G |
Missense |
11/13 |
- |
1 |
X-37665667-AC-GT |
c.1342_1343inv |
p.T448V |
Missense |
11/13 |
- |
1 |
X-37665667-A-G |
c.1342A>G |
p.T448A |
Missense |
11/13 |
- |
1 |
X-37665667-A-T |
c.1342A>T |
p.T448S |
Missense |
11/13 |
- |
1 |
X-37665668-C-A |
c.1343C>A |
p.T448K |
Missense |
11/13 |
- |
1 |
X-37665668-CA-AC |
c.1343_1344delinsAC |
p.T448N |
Missense |
11/13 |
- |
1 |
X-37665668-CA-TG |
c.1343_1344inv |
p.T448M |
Missense |
11/13 |
- |
1 |
X-37665668-C-G |
c.1343C>G |
p.T448R |
Missense |
11/13 |
- |
1 |
X-37665668-C-T |
c.1343C>T |
p.T448I |
Missense |
11/13 |
- |
1 |
X-37665670-C-A |
c.1345C>A |
p.H449N |
Missense |
11/13 |
- |
1 |
X-37665670-CA-AC |
c.1345_1346delinsAC |
p.H449T |
Missense |
11/13 |
- |
1 |
X-37665670-CA-AG |
c.1345_1346delinsAG |
p.H449S |
Missense |
11/13 |
- |
1 |
X-37665670-CA-AT |
c.1345_1346delinsAT |
p.H449I |
Missense |
11/13 |
- |
1 |
X-37665670-CA-GC |
c.1345_1346delinsGC |
p.H449A |
Missense |
11/13 |
- |
1 |
X-37665670-CA-GG |
c.1345_1346delinsGG |
p.H449G |
Missense |
11/13 |
- |
1 |
X-37665670-CA-GT |
c.1345_1346delinsGT |
p.H449V |
Missense |
11/13 |
- |
1 |
X-37665670-CAT-AAG |
c.1345_1347delinsAAG |
p.H449K |
Missense |
11/13 |
- |
1 |
X-37665670-CAT-ATG |
c.1345_1347inv |
p.H449M |
Missense |
11/13 |
- |
1 |
X-37665670-CA-TG |
c.1345_1346inv |
p.H449C |
Missense |
11/13 |
- |
1 |
X-37665670-CAT-GAG |
c.1345_1347delinsGAG |
p.H449E |
Missense |
11/13 |
- |
1 |
X-37665670-CA-TT |
c.1345_1346delinsTT |
p.H449F |
Missense |
11/13 |
- |
1 |
X-37665670-CAT-TGG |
c.1345_1347delinsTGG |
p.H449W |
Missense |
11/13 |
- |
1 |
X-37665670-C-G |
c.1345C>G |
p.H449D |
Missense |
11/13 |
- |
1 |
X-37665670-C-T |
c.1345C>T |
p.H449Y |
Missense |
11/13 |
- |
1 |
X-37665671-A-C |
c.1346A>C |
p.H449P |
Missense |
11/13 |
- |
1 |
X-37665671-A-G |
c.1346A>G |
p.H449R |
Missense |
11/13 |
- |
1 |
X-37665671-A-T |
c.1346A>T |
p.H449L |
Missense |
11/13 |
- |
2 |
X-37665672-T-A |
c.1347T>A |
p.H449Q |
Missense |
11/13 |
- |
1 |
X-37665672-T-G |
c.1347T>G |
p.H449Q |
Missense |
11/13 |
- |
1 |
X-37665671-ATGCCT-A |
c.1348_1352del |
p.A450* |
Frameshift |
11/13 |
- |
1 |
X-37665673-G-A |
c.1348G>A |
p.A450T |
Missense |
11/13 |
- |
1 |
X-37665673-G-C |
c.1348G>C |
p.A450P |
Missense |
11/13 |
- |
1 |
X-37665673-GC-AA |
c.1348_1349delinsAA |
p.A450N |
Missense |
11/13 |
- |
1 |
X-37665673-GC-AT |
c.1348_1349delinsAT |
p.A450I |
Missense |
11/13 |
- |
1 |
X-37665673-GC-CA |
c.1348_1349delinsCA |
p.A450H |
Missense |
11/13 |
- |
1 |
X-37665673-GCC-AAG |
c.1348_1350delinsAAG |
p.A450K |
Missense |
11/13 |
- |
1 |
X-37665673-GCC-ATG |
c.1348_1350delinsATG |
p.A450M |
Missense |
11/13 |
- |
1 |
X-37665673-GCC-CAA |
c.1348_1350delinsCAA |
p.A450Q |
Missense |
11/13 |
- |
1 |
X-37665673-GC-CG |
c.1348_1349delinsCG |
p.A450R |
Missense |
11/13 |
- |
1 |
X-37665673-GC-CT |
c.1348_1349delinsCT |
p.A450L |
Missense |
11/13 |
- |
1 |
X-37665673-GCC-TGG |
c.1348_1350delinsTGG |
p.A450W |
Missense |
11/13 |
- |
1 |
X-37665673-GC-TA |
c.1348_1349delinsTA |
p.A450Y |
Missense |
11/13 |
- |
1 |
X-37665673-GC-TG |
c.1348_1349delinsTG |
p.A450C |
Missense |
11/13 |
- |
1 |
X-37665673-GC-TT |
c.1348_1349delinsTT |
p.A450F |
Missense |
11/13 |
- |
1 |
X-37665673-G-T |
c.1348G>T |
p.A450S |
Missense |
11/13 |
- |
1 |
X-37665674-C-A |
c.1349C>A |
p.A450D |
Missense |
11/13 |
- |
1 |
X-37665674-CC-AG |
c.1349_1350delinsAG |
p.A450E |
Missense |
11/13 |
- |
1 |
X-37665674-C-G |
c.1349C>G |
p.A450G |
Missense |
11/13 |
- |
1 |
X-37665674-C-T |
c.1349C>T |
p.A450V |
Missense |
11/13 |
- |
1 |
X-37665673-GC-G |
c.1350del |
p.F451Lfs*51 |
Frameshift |
11/13 |
- |
1 |
X-37665675-C-T |
c.1350C>T |
p.A450= |
Synonymous |
11/13 |
- |
1 |
X-37665676-T-A |
c.1351T>A |
p.F451I |
Missense |
11/13 |
- |
1 |
X-37665676-T-C |
c.1351T>C |
p.F451L |
Missense |
11/13 |
- |
1 |
X-37665676-T-G |
c.1351T>G |
p.F451V |
Missense |
11/13 |
- |
1 |
X-37665676-TT-AA |
c.1351_1352inv |
p.F451N |
Missense |
11/13 |
- |
1 |
X-37665676-TT-AC |
c.1351_1352delinsAC |
p.F451T |
Missense |
11/13 |
- |
1 |
X-37665676-TT-CA |
c.1351_1352delinsCA |
p.F451H |
Missense |
11/13 |
- |
1 |
X-37665676-TT-CC |
c.1351_1352delinsCC |
p.F451P |
Missense |
11/13 |
- |
1 |
X-37665676-TT-CG |
c.1351_1352delinsCG |
p.F451R |
Missense |
11/13 |
- |
1 |
X-37665676-TT-GA |
c.1351_1352delinsGA |
p.F451D |
Missense |
11/13 |
- |
1 |
X-37665676-TT-GC |
c.1351_1352delinsGC |
p.F451A |
Missense |
11/13 |
- |
1 |
X-37665676-TT-GG |
c.1351_1352delinsGG |
p.F451G |
Missense |
11/13 |
- |
1 |
X-37665676-TTT-AAG |
c.1351_1353delinsAAG |
p.F451K |
Missense |
11/13 |
- |
1 |
X-37665676-TTT-ATG |
c.1351_1353delinsATG |
p.F451M |
Missense |
11/13 |
- |
1 |
X-37665676-TTT-CAA |
c.1351_1353delinsCAA |
p.F451Q |
Missense |
11/13 |
- |
1 |
X-37665676-TTT-GAG |
c.1351_1353delinsGAG |
p.F451E |
Missense |
11/13 |
- |
1 |
X-37665678-T-A |
c.1353T>A |
p.F451L |
Missense |
11/13 |
- |
1 |
X-37665678-T-G |
c.1353T>G |
p.F451L |
Missense |
11/13 |
- |
1 |
X-37665677-T-A |
c.1352T>A |
p.F451Y |
Missense |
11/13 |
- |
1 |
X-37665677-T-C |
c.1352T>C |
p.F451S |
Missense |
11/13 |
- |
1 |
X-37665677-T-G |
c.1352T>G |
p.F451C |
Missense |
11/13 |
- |
1 |
X-37665677-TT-GG |
c.1352_1353delinsGG |
p.F451W |
Missense |
11/13 |
- |
1 |
X-37665679-G-A |
c.1354G>A |
p.E452K |
Missense |
11/13 |
- |
1 |
X-37665679-GA-AC |
c.1354_1355delinsAC |
p.E452T |
Missense |
11/13 |
- |
1 |
X-37665679-GA-AG |
c.1354_1355delinsAG |
p.E452R |
Missense |
11/13 |
- |
1 |
X-37665679-GA-AT |
c.1354_1355delinsAT |
p.E452M |
Missense |
11/13 |
- |
1 |
X-37665679-GA-CC |
c.1354_1355delinsCC |
p.E452P |
Missense |
11/13 |
- |
1 |
X-37665679-GA-CT |
c.1354_1355delinsCT |
p.E452L |
Missense |
11/13 |
- |
1 |
X-37665679-GAG-AAC |
c.1354_1356delinsAAC |
p.E452N |
Missense |
11/13 |
- |
1 |
X-37665679-GAG-ATC |
c.1354_1356delinsATC |
p.E452I |
Missense |
11/13 |
- |
1 |
X-37665679-GAG-CAT |
c.1354_1356delinsCAT |
p.E452H |
Missense |
11/13 |
- |
1 |
X-37665679-GAG-TAT |
c.1354_1356delinsTAT |
p.E452Y |
Missense |
11/13 |
- |
1 |
X-37665679-GAG-TGT |
c.1354_1356delinsTGT |
p.E452C |
Missense |
11/13 |
- |
1 |
X-37665679-GAG-TTT |
c.1354_1356delinsTTT |
p.E452F |
Missense |
11/13 |
- |
1 |
X-37665679-GA-TC |
c.1354_1355inv |
p.E452S |
Missense |
11/13 |
- |
1 |
X-37665679-GA-TG |
c.1354_1355delinsTG |
p.E452W |
Missense |
11/13 |
- |
1 |
X-37665679-G-C |
c.1354G>C |
p.E452Q |
Missense |
11/13 |
- |
1 |
X-37665679-G-T |
c.1354G>T |
p.E452* |
Nonsense |
11/13 |
- |
1 |
X-37665679-TGAG-T |
c.1354_1356del |
p.E452del |
InFrameDeletion |
11/13 |
- |
2 |
X-37665680-A-C |
c.1355A>C |
p.E452A |
Missense |
11/13 |
- |
1 |
X-37665680-A-G |
c.1355A>G |
p.E452G |
Missense |
11/13 |
- |
1 |
X-37665680-A-T |
c.1355A>T |
p.E452V |
Missense |
11/13 |
- |
1 |
X-37665681-G-C |
c.1356G>C |
p.E452D |
Missense |
11/13 |
- |
1 |
X-37665681-G-T |
c.1356G>T |
p.E452D |
Missense |
11/13 |
- |
1 |
X-37665680-AGT-A |
c.1357_1358del |
p.W453Vfs*32 |
Frameshift |
11/13 |
- |
1 |
X-37665682-T-A |
c.1357T>A |
p.W453R |
Missense |
11/13 |
- |
6 |
X-37665682-T-C |
c.1357T>C |
p.W453R |
Missense |
11/13 |
- |
6 |
X-37665682-T-G |
c.1357T>G |
p.W453G |
Missense |
11/13 |
- |
1 |
X-37665682-TG-AA |
c.1357_1358delinsAA |
p.W453K |
Missense |
11/13 |
- |
1 |
X-37665682-TG-AC |
c.1357_1358delinsAC |
p.W453T |
Missense |
11/13 |
- |
1 |
X-37665682-TG-AT |
c.1357_1358delinsAT |
p.W453M |
Missense |
11/13 |
- |
1 |
X-37665682-TG-CA |
c.1357_1358inv |
p.W453Q |
Missense |
11/13 |
- |
1 |
X-37665682-TG-CC |
c.1357_1358delinsCC |
p.W453P |
Missense |
11/13 |
- |
1 |
X-37665682-TG-GA |
c.1357_1358delinsGA |
p.W453E |
Missense |
11/13 |
- |
1 |
X-37665682-TGG-AAC |
c.1357_1359delinsAAC |
p.W453N |
Missense |
11/13 |
- |
1 |
X-37665682-TGG-ATC |
c.1357_1359delinsATC |
p.W453I |
Missense |
11/13 |
- |
1 |
X-37665682-TG-GC |
c.1357_1358delinsGC |
p.W453A |
Missense |
11/13 |
- |
1 |
X-37665682-TGG-CAT |
c.1357_1359delinsCAT |
p.W453H |
Missense |
11/13 |
- |
1 |
X-37665682-TGG-GAC |
c.1357_1359delinsGAC |
p.W453D |
Missense |
11/13 |
- |
1 |
X-37665682-TG-GT |
c.1357_1358delinsGT |
p.W453V |
Missense |
11/13 |
- |
1 |
X-37665683-G-A |
c.1358G>A |
p.W453* |
Nonsense |
11/13 |
- |
1 |
X-37665683-G-C |
c.1358G>C |
p.W453S |
Missense |
11/13 |
- |
1 |
X-37665683-GG-AT |
c.1358_1359delinsAT |
p.W453Y |
Missense |
11/13 |
- |
1 |
X-37665683-GG-TT |
c.1358_1359delinsTT |
p.W453F |
Missense |
11/13 |
- |
1 |
X-37665683-G-T |
c.1358G>T |
p.W453L |
Missense |
11/13 |
- |
1 |
X-37665684-G-A |
c.1359G>A |
p.W453* |
Nonsense |
11/13 |
- |
3 |
X-37665684-G-C |
c.1359G>C |
p.W453C |
Missense |
11/13 |
- |
1 |
X-37665684-G-T |
c.1359G>T |
p.W453C |
Missense |
11/13 |
- |
1 |
X-37665685-T-A |
c.1360T>A |
p.F454I |
Missense |
11/13 |
- |
1 |
X-37665685-T-C |
c.1360T>C |
p.F454L |
Missense |
11/13 |
- |
5 |
X-37665685-T-G |
c.1360T>G |
p.F454V |
Missense |
11/13 |
- |
1 |
X-37665685-TT-AA |
c.1360_1361inv |
p.F454N |
Missense |
11/13 |
- |
1 |
X-37665685-TT-AC |
c.1360_1361delinsAC |
p.F454T |
Missense |
11/13 |
- |
1 |
X-37665685-TT-CA |
c.1360_1361delinsCA |
p.F454H |
Missense |
11/13 |
- |
1 |
X-37665685-TT-CC |
c.1360_1361delinsCC |
p.F454P |
Missense |
11/13 |
- |
1 |
X-37665685-TT-CG |
c.1360_1361delinsCG |
p.F454R |
Missense |
11/13 |
- |
1 |
X-37665685-TT-GA |
c.1360_1361delinsGA |
p.F454D |
Missense |
11/13 |
- |
1 |
X-37665685-TT-GC |
c.1360_1361delinsGC |
p.F454A |
Missense |
11/13 |
- |
1 |
X-37665685-TT-GG |
c.1360_1361delinsGG |
p.F454G |
Missense |
11/13 |
- |
1 |
X-37665685-TTT-AAG |
c.1360_1362delinsAAG |
p.F454K |
Missense |
11/13 |
- |
1 |
X-37665685-TTT-ATG |
c.1360_1362delinsATG |
p.F454M |
Missense |
11/13 |
- |
1 |
X-37665685-TTT-CAA |
c.1360_1362delinsCAA |
p.F454Q |
Missense |
11/13 |
- |
1 |
X-37665685-TTT-GAG |
c.1360_1362delinsGAG |
p.F454E |
Missense |
11/13 |
- |
1 |
X-37665687-T-A |
c.1362T>A |
p.F454L |
Missense |
11/13 |
- |
3 |
X-37665687-T-G |
c.1362T>G |
p.F454L |
Missense |
11/13 |
- |
3 |
X-37665686-T-A |
c.1361T>A |
p.F454Y |
Missense |
11/13 |
- |
1 |
X-37665686-T-C |
c.1361T>C |
p.F454S |
Missense |
11/13 |
- |
1 |
X-37665686-T-G |
c.1361T>G |
p.F454C |
Missense |
11/13 |
- |
1 |
X-37665686-TT-GG |
c.1361_1362delinsGG |
p.F454W |
Missense |
11/13 |
- |
1 |
X-37665688-G-A |
c.1363G>A |
p.A455T |
Missense |
11/13 |
- |
1 |
X-37665688-G-C |
c.1363G>C |
p.A455P |
Missense |
11/13 |
- |
1 |
X-37665688-GC-AA |
c.1363_1364delinsAA |
p.A455K |
Missense |
11/13 |
- |
1 |
X-37665688-GCA-AAC |
c.1363_1365delinsAAC |
p.A455N |
Missense |
11/13 |
- |
1 |
X-37665688-GCA-ATG |
c.1363_1365delinsATG |
p.A455M |
Missense |
11/13 |
- |
1 |
X-37665688-GCA-CAT |
c.1363_1365delinsCAT |
p.A455H |
Missense |
11/13 |
- |
1 |
X-37665688-GC-AG |
c.1363_1364delinsAG |
p.A455R |
Missense |
11/13 |
- |
1 |
X-37665688-GC-AT |
c.1363_1364delinsAT |
p.A455I |
Missense |
11/13 |
- |
1 |
X-37665688-GCA-TAT |
c.1363_1365delinsTAT |
p.A455Y |
Missense |
11/13 |
- |
1 |
X-37665688-GCA-TGG |
c.1363_1365delinsTGG |
p.A455W |
Missense |
11/13 |
- |
1 |
X-37665688-GCA-TGT |
c.1363_1365delinsTGT |
p.A455C |
Missense |
11/13 |
- |
1 |
X-37665688-GCA-TTT |
c.1363_1365delinsTTT |
p.A455F |
Missense |
11/13 |
- |
1 |
X-37665688-GC-CA |
c.1363_1364delinsCA |
p.A455Q |
Missense |
11/13 |
- |
1 |
X-37665688-GC-CT |
c.1363_1364delinsCT |
p.A455L |
Missense |
11/13 |
- |
1 |
X-37665688-G-T |
c.1363G>T |
p.A455S |
Missense |
11/13 |
- |
1 |
X-37665689-C-A |
c.1364C>A |
p.A455E |
Missense |
11/13 |
- |
2 |
X-37665689-CA-AC |
c.1364_1365delinsAC |
p.A455D |
Missense |
11/13 |
- |
1 |
X-37665689-C-G |
c.1364C>G |
p.A455G |
Missense |
11/13 |
- |
1 |
X-37665689-C-T |
c.1364C>T |
p.A455V |
Missense |
11/13 |
- |
1 |
X-37665691-G-A |
c.1366G>A |
p.D456N |
Missense |
11/13 |
- |
6 |
X-37665691-GA-AC |
c.1366_1367delinsAC |
p.D456T |
Missense |
11/13 |
- |
1 |
X-37665691-GA-AG |
c.1366_1367delinsAG |
p.D456S |
Missense |
11/13 |
- |
1 |
X-37665691-GA-AT |
c.1366_1367delinsAT |
p.D456I |
Missense |
11/13 |
- |
1 |
X-37665691-GA-CC |
c.1366_1367delinsCC |
p.D456P |
Missense |
11/13 |
- |
1 |
X-37665691-GA-CG |
c.1366_1367delinsCG |
p.D456R |
Missense |
11/13 |
- |
1 |
X-37665691-GA-CT |
c.1366_1367delinsCT |
p.D456L |
Missense |
11/13 |
- |
1 |
X-37665691-GAT-AAG |
c.1366_1368delinsAAG |
p.D456K |
Missense |
11/13 |
- |
1 |
X-37665691-GAT-ATG |
c.1366_1368delinsATG |
p.D456M |
Missense |
11/13 |
- |
1 |
X-37665691-GAT-CAA |
c.1366_1368delinsCAA |
p.D456Q |
Missense |
11/13 |
- |
1 |
X-37665691-GA-TG |
c.1366_1367delinsTG |
p.D456C |
Missense |
11/13 |
- |
1 |
X-37665691-GA-TT |
c.1366_1367delinsTT |
p.D456F |
Missense |
11/13 |
- |
1 |
X-37665691-GAT-TGG |
c.1366_1368delinsTGG |
p.D456W |
Missense |
11/13 |
- |
1 |
X-37665691-G-C |
c.1366G>C |
p.D456H |
Missense |
11/13 |
- |
1 |
X-37665691-G-T |
c.1366G>T |
p.D456Y |
Missense |
11/13 |
- |
1 |
X-37665692-A-C |
c.1367A>C |
p.D456A |
Missense |
11/13 |
- |
1 |
X-37665692-A-G |
c.1367A>G |
p.D456G |
Missense |
11/13 |
- |
1 |
X-37665692-A-T |
c.1367A>T |
p.D456V |
Missense |
11/13 |
- |
1 |
X-37665693-T-A |
c.1368T>A |
p.D456E |
Missense |
11/13 |
- |
1 |
X-37665693-T-G |
c.1368T>G |
p.D456E |
Missense |
11/13 |
- |
1 |
X-37665694-C-A |
c.1369C>A |
p.L457M |
Missense |
11/13 |
- |
1 |
X-37665694-C-G |
c.1369C>G |
p.L457V |
Missense |
11/13 |
- |
1 |
X-37665694-CT-AA |
c.1369_1370delinsAA |
p.L457K |
Missense |
11/13 |
- |
1 |
X-37665694-CT-AC |
c.1369_1370delinsAC |
p.L457T |
Missense |
11/13 |
- |
1 |
X-37665694-CT-GA |
c.1369_1370delinsGA |
p.L457E |
Missense |
11/13 |
- |
1 |
X-37665694-CTG-AAC |
c.1369_1371delinsAAC |
p.L457N |
Missense |
11/13 |
- |
1 |
X-37665694-CTG-ATC |
c.1369_1371delinsATC |
p.L457I |
Missense |
11/13 |
- |
1 |
X-37665694-CT-GC |
c.1369_1370delinsGC |
p.L457A |
Missense |
11/13 |
- |
1 |
X-37665694-CT-GG |
c.1369_1370delinsGG |
p.L457G |
Missense |
11/13 |
- |
1 |
X-37665694-CTG-GAC |
c.1369_1371delinsGAC |
p.L457D |
Missense |
11/13 |
- |
1 |
X-37665694-CTG-TAT |
c.1369_1371delinsTAT |
p.L457Y |
Missense |
11/13 |
- |
1 |
X-37665694-CTG-TGT |
c.1369_1371delinsTGT |
p.L457C |
Missense |
11/13 |
- |
1 |
X-37665694-CTG-TTT |
c.1369_1371delinsTTT |
p.L457F |
Missense |
11/13 |
- |
1 |
X-37665694-CT-TC |
c.1369_1370delinsTC |
p.L457S |
Missense |
11/13 |
- |
1 |
X-37665694-CT-TG |
c.1369_1370delinsTG |
p.L457W |
Missense |
11/13 |
- |
1 |
X-37665695-T-A |
c.1370T>A |
p.L457Q |
Missense |
11/13 |
- |
1 |
X-37665695-T-C |
c.1370T>C |
p.L457P |
Missense |
11/13 |
- |
1 |
X-37665695-T-G |
c.1370T>G |
p.L457R |
Missense |
11/13 |
- |
1 |
X-37665695-TG-AT |
c.1370_1371delinsAT |
p.L457H |
Missense |
11/13 |
- |
1 |
X-37665697-C-A |
c.1372C>A |
p.L458M |
Missense |
11/13 |
- |
1 |
X-37665697-C-G |
c.1372C>G |
p.L458V |
Missense |
11/13 |
- |
1 |
X-37665697-CT-AA |
c.1372_1373delinsAA |
p.L458K |
Missense |
11/13 |
- |
1 |
X-37665697-CT-AC |
c.1372_1373delinsAC |
p.L458T |
Missense |
11/13 |
- |
1 |
X-37665697-CT-GA |
c.1372_1373delinsGA |
p.L458E |
Missense |
11/13 |
- |
1 |
X-37665697-CTG-AAC |
c.1372_1374delinsAAC |
p.L458N |
Missense |
11/13 |
- |
1 |
X-37665697-CTG-ATC |
c.1372_1374delinsATC |
p.L458I |
Missense |
11/13 |
- |
1 |
X-37665697-CT-GC |
c.1372_1373delinsGC |
p.L458A |
Missense |
11/13 |
- |
1 |
X-37665697-CT-GG |
c.1372_1373delinsGG |
p.L458G |
Missense |
11/13 |
- |
1 |
X-37665697-CTG-GAC |
c.1372_1374delinsGAC |
p.L458D |
Missense |
11/13 |
- |
1 |
X-37665697-CTG-TAT |
c.1372_1374delinsTAT |
p.L458Y |
Missense |
11/13 |
- |
1 |
X-37665697-CTG-TGT |
c.1372_1374delinsTGT |
p.L458C |
Missense |
11/13 |
- |
1 |
X-37665697-CTG-TTT |
c.1372_1374delinsTTT |
p.L458F |
Missense |
11/13 |
- |
1 |
X-37665697-CT-TC |
c.1372_1373delinsTC |
p.L458S |
Missense |
11/13 |
- |
1 |
X-37665697-CT-TG |
c.1372_1373delinsTG |
p.L458W |
Missense |
11/13 |
- |
1 |
X-37665698-T-A |
c.1373T>A |
p.L458Q |
Missense |
11/13 |
- |
1 |
X-37665698-T-C |
c.1373T>C |
p.L458P |
Missense |
11/13 |
- |
1 |
X-37665698-T-G |
c.1373T>G |
p.L458R |
Missense |
11/13 |
- |
1 |
X-37665698-TG-AT |
c.1373_1374delinsAT |
p.L458H |
Missense |
11/13 |
- |
1 |
X-37665699-G-A |
c.1374G>A |
p.L458= |
Synonymous |
11/13 |
- |
1 |
X-37665700-C-A |
c.1375C>A |
p.Q459K |
Missense |
11/13 |
- |
1 |
X-37665700-CAA-AAC |
c.1375_1377delinsAAC |
p.Q459N |
Missense |
11/13 |
- |
1 |
X-37665700-CAA-ATG |
c.1375_1377delinsATG |
p.Q459M |
Missense |
11/13 |
- |
1 |
X-37665700-CA-AC |
c.1375_1376delinsAC |
p.Q459T |
Missense |
11/13 |
- |
1 |
X-37665700-CAA-GAC |
c.1375_1377delinsGAC |
p.Q459D |
Missense |
11/13 |
- |
1 |
X-37665700-CA-AT |
c.1375_1376delinsAT |
p.Q459I |
Missense |
11/13 |
- |
1 |
X-37665700-CAA-TAT |
c.1375_1377delinsTAT |
p.Q459Y |
Missense |
11/13 |
- |
1 |
X-37665700-CAA-TGG |
c.1375_1377delinsTGG |
p.Q459W |
Missense |
11/13 |
- |
1 |
X-37665700-CAA-TGT |
c.1375_1377delinsTGT |
p.Q459C |
Missense |
11/13 |
- |
1 |
X-37665700-CAA-TTT |
c.1375_1377delinsTTT |
p.Q459F |
Missense |
11/13 |
- |
1 |
X-37665700-CA-GC |
c.1375_1376delinsGC |
p.Q459A |
Missense |
11/13 |
- |
1 |
X-37665700-CA-GG |
c.1375_1376delinsGG |
p.Q459G |
Missense |
11/13 |
- |
1 |
X-37665700-CA-GT |
c.1375_1376delinsGT |
p.Q459V |
Missense |
11/13 |
- |
1 |
X-37665700-CA-TC |
c.1375_1376delinsTC |
p.Q459S |
Missense |
11/13 |
- |
1 |
X-37665700-C-G |
c.1375C>G |
p.Q459E |
Missense |
11/13 |
- |
1 |
X-37665700-C-T |
c.1375C>T |
p.Q459* |
Nonsense |
11/13 |
- |
1 |
X-37665701-A-C |
c.1376A>C |
p.Q459P |
Missense |
11/13 |
- |
1 |
X-37665701-A-G |
c.1376A>G |
p.Q459R |
Missense |
11/13 |
- |
1 |
X-37665701-A-T |
c.1376A>T |
p.Q459L |
Missense |
11/13 |
- |
1 |
X-37665702-A-C |
c.1377A>C |
p.Q459H |
Missense |
11/13 |
- |
1 |
X-37665702-A-T |
c.1377A>T |
p.Q459H |
Missense |
11/13 |
- |
1 |
X-37665703-C-A |
c.1378C>A |
p.L460M |
Missense |
11/13 |
- |
1 |
X-37665703-C-G |
c.1378C>G |
p.L460V |
Missense |
11/13 |
- |
1 |
X-37665703-CT-AA |
c.1378_1379delinsAA |
p.L460K |
Missense |
11/13 |
- |
1 |
X-37665703-CT-AC |
c.1378_1379delinsAC |
p.L460T |
Missense |
11/13 |
- |
1 |
X-37665703-CT-GA |
c.1378_1379delinsGA |
p.L460E |
Missense |
11/13 |
- |
1 |
X-37665703-CTG-AAC |
c.1378_1380delinsAAC |
p.L460N |
Missense |
11/13 |
- |
1 |
X-37665703-CTG-ATC |
c.1378_1380delinsATC |
p.L460I |
Missense |
11/13 |
- |
1 |
X-37665703-CT-GC |
c.1378_1379delinsGC |
p.L460A |
Missense |
11/13 |
- |
1 |
X-37665703-CT-GG |
c.1378_1379delinsGG |
p.L460G |
Missense |
11/13 |
- |
1 |
X-37665703-CTG-GAC |
c.1378_1380delinsGAC |
p.L460D |
Missense |
11/13 |
- |
1 |
X-37665703-CTG-TAT |
c.1378_1380delinsTAT |
p.L460Y |
Missense |
11/13 |
- |
1 |
X-37665703-CTG-TGT |
c.1378_1380delinsTGT |
p.L460C |
Missense |
11/13 |
- |
1 |
X-37665703-CTG-TTT |
c.1378_1380delinsTTT |
p.L460F |
Missense |
11/13 |
- |
1 |
X-37665703-CT-TC |
c.1378_1379delinsTC |
p.L460S |
Missense |
11/13 |
- |
1 |
X-37665703-CT-TG |
c.1378_1379delinsTG |
p.L460W |
Missense |
11/13 |
- |
1 |
X-37665704-T-A |
c.1379T>A |
p.L460Q |
Missense |
11/13 |
- |
1 |
X-37665704-T-C |
c.1379T>C |
p.L460P |
Missense |
11/13 |
- |
1 |
X-37665704-T-G |
c.1379T>G |
p.L460R |
Missense |
11/13 |
- |
1 |
X-37665704-TG-AT |
c.1379_1380delinsAT |
p.L460H |
Missense |
11/13 |
- |
1 |
X-37665706-C-A |
c.1381C>A |
p.L461M |
Missense |
11/13 |
- |
1 |
X-37665706-C-G |
c.1381C>G |
p.L461V |
Missense |
11/13 |
- |
1 |
X-37665706-CT-AA |
c.1381_1382delinsAA |
p.L461K |
Missense |
11/13 |
- |
1 |
X-37665706-CT-AC |
c.1381_1382delinsAC |
p.L461T |
Missense |
11/13 |
- |
1 |
X-37665706-CT-GA |
c.1381_1382delinsGA |
p.L461E |
Missense |
11/13 |
- |
1 |
X-37665706-CTG-AAC |
c.1381_1383delinsAAC |
p.L461N |
Missense |
11/13 |
- |
1 |
X-37665706-CTG-ATC |
c.1381_1383delinsATC |
p.L461I |
Missense |
11/13 |
- |
1 |
X-37665706-CT-GC |
c.1381_1382delinsGC |
p.L461A |
Missense |
11/13 |
- |
1 |
X-37665706-CT-GG |
c.1381_1382delinsGG |
p.L461G |
Missense |
11/13 |
- |
1 |
X-37665706-CTG-GAC |
c.1381_1383delinsGAC |
p.L461D |
Missense |
11/13 |
- |
1 |
X-37665706-CTG-TAT |
c.1381_1383delinsTAT |
p.L461Y |
Missense |
11/13 |
- |
1 |
X-37665706-CTG-TGT |
c.1381_1383delinsTGT |
p.L461C |
Missense |
11/13 |
- |
1 |
X-37665706-CTG-TTT |
c.1381_1383delinsTTT |
p.L461F |
Missense |
11/13 |
- |
1 |
X-37665706-CT-TC |
c.1381_1382delinsTC |
p.L461S |
Missense |
11/13 |
- |
1 |
X-37665706-CT-TG |
c.1381_1382delinsTG |
p.L461W |
Missense |
11/13 |
- |
1 |
X-37665707-CT-C |
c.1382del |
p.L461Rfs*41 |
Frameshift |
11/13 |
- |
1 |
X-37665707-T-A |
c.1382T>A |
p.L461Q |
Missense |
11/13 |
- |
1 |
X-37665707-T-C |
c.1382T>C |
p.L461P |
Missense |
11/13 |
- |
1 |
X-37665707-T-G |
c.1382T>G |
p.L461R |
Missense |
11/13 |
- |
1 |
X-37665707-TG-AT |
c.1382_1383delinsAT |
p.L461H |
Missense |
11/13 |
- |
1 |
X-37665709-G-A |
c.1384G>A |
p.E462K |
Missense |
11/13 |
- |
1 |
X-37665709-GA-AC |
c.1384_1385delinsAC |
p.E462T |
Missense |
11/13 |
- |
1 |
X-37665709-GA-AG |
c.1384_1385delinsAG |
p.E462R |
Missense |
11/13 |
- |
1 |
X-37665709-GA-AT |
c.1384_1385delinsAT |
p.E462M |
Missense |
11/13 |
- |
1 |
X-37665709-GA-CC |
c.1384_1385delinsCC |
p.E462P |
Missense |
11/13 |
- |
1 |
X-37665709-GA-CT |
c.1384_1385delinsCT |
p.E462L |
Missense |
11/13 |
- |
1 |
X-37665709-GAG-AAC |
c.1384_1386delinsAAC |
p.E462N |
Missense |
11/13 |
- |
1 |
X-37665709-GAG-ATC |
c.1384_1386delinsATC |
p.E462I |
Missense |
11/13 |
- |
1 |
X-37665709-GAG-CAT |
c.1384_1386delinsCAT |
p.E462H |
Missense |
11/13 |
- |
1 |
X-37665709-GAG-TAT |
c.1384_1386delinsTAT |
p.E462Y |
Missense |
11/13 |
- |
1 |
X-37665709-GAG-TGT |
c.1384_1386delinsTGT |
p.E462C |
Missense |
11/13 |
- |
1 |
X-37665709-GAG-TTT |
c.1384_1386delinsTTT |
p.E462F |
Missense |
11/13 |
- |
1 |
X-37665709-GA-TC |
c.1384_1385inv |
p.E462S |
Missense |
11/13 |
- |
1 |
X-37665709-GA-TG |
c.1384_1385delinsTG |
p.E462W |
Missense |
11/13 |
- |
1 |
X-37665709-G-C |
c.1384G>C |
p.E462Q |
Missense |
11/13 |
- |
1 |
X-37665709-G-T |
c.1384G>T |
p.E462* |
Nonsense |
11/13 |
- |
1 |
X-37665710-A-C |
c.1385A>C |
p.E462A |
Missense |
11/13 |
- |
1 |
X-37665710-A-G |
c.1385A>G |
p.E462G |
Missense |
11/13 |
- |
1 |
X-37665710-A-T |
c.1385A>T |
p.E462V |
Missense |
11/13 |
- |
1 |
X-37665711-G-C |
c.1386G>C |
p.E462D |
Missense |
11/13 |
- |
1 |
X-37665711-G-T |
c.1386G>T |
p.E462D |
Missense |
11/13 |
- |
1 |
X-37665712-A-G |
c.1387A>G |
p.S463G |
Missense |
11/13 |
- |
1 |
X-37665712-AG-CA |
c.1387_1388delinsCA |
p.S463H |
Missense |
11/13 |
- |
1 |
X-37665712-AG-CC |
c.1387_1388delinsCC |
p.S463P |
Missense |
11/13 |
- |
1 |
X-37665712-AGC-CAA |
c.1387_1389delinsCAA |
p.S463Q |
Missense |
11/13 |
- |
1 |
X-37665712-AGC-GAG |
c.1387_1389delinsGAG |
p.S463E |
Missense |
11/13 |
- |
1 |
X-37665712-AG-CT |
c.1387_1388inv |
p.S463L |
Missense |
11/13 |
- |
1 |
X-37665712-AGC-TGG |
c.1387_1389delinsTGG |
p.S463W |
Missense |
11/13 |
- |
1 |
X-37665712-AG-GA |
c.1387_1388delinsGA |
p.S463D |
Missense |
11/13 |
- |
1 |
X-37665712-AG-GC |
c.1387_1388delinsGC |
p.S463A |
Missense |
11/13 |
- |
1 |
X-37665712-AG-GT |
c.1387_1388delinsGT |
p.S463V |
Missense |
11/13 |
- |
1 |
X-37665712-AG-TA |
c.1387_1388delinsTA |
p.S463Y |
Missense |
11/13 |
- |
1 |
X-37665712-AG-TT |
c.1387_1388delinsTT |
p.S463F |
Missense |
11/13 |
- |
1 |
X-37665712-A-T |
c.1387A>T |
p.S463C |
Missense |
11/13 |
- |
1 |
X-37665713-G-A |
c.1388G>A |
p.S463N |
Missense |
11/13 |
- |
1 |
X-37665713-G-C |
c.1388G>C |
p.S463T |
Missense |
11/13 |
- |
1 |
X-37665713-GC-AG |
c.1388_1389delinsAG |
p.S463K |
Missense |
11/13 |
- |
1 |
X-37665713-GC-TG |
c.1388_1389delinsTG |
p.S463M |
Missense |
11/13 |
- |
1 |
X-37665713-G-T |
c.1388G>T |
p.S463I |
Missense |
11/13 |
- |
1 |
X-37665712-A-C |
c.1387A>C |
p.S463R |
Missense |
11/13 |
- |
1 |
X-37665714-C-A |
c.1389C>A |
p.S463R |
Missense |
11/13 |
- |
1 |
X-37665714-C-G |
c.1389C>G |
p.S463R |
Missense |
11/13 |
- |
1 |
X-37665716-A-G |
c.1391A>G |
p.Q464R |
Missense |
11/13 |
- |
1 |
X-37665719-T-G |
c.1394T>G |
p.M465R |
Missense |
11/13 |
- |
1 |
X-37665721-C-T |
c.1396C>T |
p.Q466* |
Nonsense |
11/13 |
- |
1 |
X-37665723-G-C |
c.1398G>C |
p.Q466H |
Missense |
11/13 |
- |
1 |
X-37665723-G-T |
c.1398G>T |
p.Q466H |
Missense |
11/13 |
- |
1 |
X-37665724-G-A |
c.1399G>A |
p.E467K |
Missense |
11/13 |
- |
1 |
X-37665724-G-T |
c.1399G>T |
p.E467* |
Nonsense |
11/13 |
- |
3 |
X-37665727-A-G |
c.1402A>G |
p.R468G |
Missense |
11/13 |
- |
1 |
X-37665727-AG-CA |
c.1402_1403delinsCA |
p.R468Q |
Missense |
11/13 |
- |
1 |
X-37665727-AG-CC |
c.1402_1403delinsCC |
p.R468P |
Missense |
11/13 |
- |
1 |
X-37665727-AG-CT |
c.1402_1403inv |
p.R468L |
Missense |
11/13 |
- |
1 |
X-37665727-AG-GA |
c.1402_1403delinsGA |
p.R468E |
Missense |
11/13 |
- |
1 |
X-37665727-AG-GC |
c.1402_1403delinsGC |
p.R468A |
Missense |
11/13 |
- |
1 |
X-37665727-AGG-CAT |
c.1402_1404delinsCAT |
p.R468H |
Missense |
11/13 |
- |
1 |
X-37665727-AGG-GAC |
c.1402_1404delinsGAC |
p.R468D |
Missense |
11/13 |
- |
1 |
X-37665727-AG-GT |
c.1402_1403delinsGT |
p.R468V |
Missense |
11/13 |
- |
1 |
X-37665727-AGG-TAT |
c.1402_1404delinsTAT |
p.R468Y |
Missense |
11/13 |
- |
1 |
X-37665727-AGG-TGT |
c.1402_1404delinsTGT |
p.R468C |
Missense |
11/13 |
- |
1 |
X-37665727-AGG-TTT |
c.1402_1404delinsTTT |
p.R468F |
Missense |
11/13 |
- |
1 |
X-37665727-A-T |
c.1402A>T |
p.R468W |
Missense |
11/13 |
- |
1 |
X-37665728-G-A |
c.1403G>A |
p.R468K |
Missense |
11/13 |
- |
1 |
X-37665728-G-C |
c.1403G>C |
p.R468T |
Missense |
11/13 |
- |
1 |
X-37665728-GG-AC |
c.1403_1404delinsAC |
p.R468N |
Missense |
11/13 |
- |
1 |
X-37665728-GG-TC |
c.1403_1404delinsTC |
p.R468I |
Missense |
11/13 |
- |
1 |
X-37665728-G-T |
c.1403G>T |
p.R468M |
Missense |
11/13 |
- |
1 |
X-37665727-A-C |
c.1402A>C |
p.R468= |
Synonymous |
11/13 |
- |
1 |
X-37665729-G-A |
c.1404G>A |
p.R468= |
Synonymous |
11/13 |
- |
3 |
X-37665729-G-C |
c.1404G>C |
p.R468S |
Missense |
11/13 |
- |
1 |
X-37665729-G-T |
c.1404G>T |
p.R468S |
Missense |
11/13 |
- |
1 |
X-37665730-AA-CC |
c.1405_1406delinsCC |
p.N469P |
Missense |
11/13 |
- |
1 |
X-37665730-AAC-CAA |
c.1405_1407delinsCAA |
p.N469Q |
Missense |
11/13 |
- |
1 |
X-37665730-AAC-GAG |
c.1405_1407delinsGAG |
p.N469E |
Missense |
11/13 |
- |
1 |
X-37665730-AA-CT |
c.1405_1406delinsCT |
p.N469L |
Missense |
11/13 |
- |
1 |
X-37665730-AAC-TGG |
c.1405_1407delinsTGG |
p.N469W |
Missense |
11/13 |
- |
1 |
X-37665730-AA-GC |
c.1405_1406delinsGC |
p.N469A |
Missense |
11/13 |
- |
1 |
X-37665730-AA-GG |
c.1405_1406delinsGG |
p.N469G |
Missense |
11/13 |
- |
1 |
X-37665730-AA-GT |
c.1405_1406delinsGT |
p.N469V |
Missense |
11/13 |
- |
1 |
X-37665730-AA-TG |
c.1405_1406delinsTG |
p.N469C |
Missense |
11/13 |
- |
1 |
X-37665730-AA-TT |
c.1405_1406inv |
p.N469F |
Missense |
11/13 |
- |
1 |
X-37665730-A-C |
c.1405A>C |
p.N469H |
Missense |
11/13 |
- |
1 |
X-37665730-A-G |
c.1405A>G |
p.N469D |
Missense |
11/13 |
- |
1 |
X-37665730-A-T |
c.1405A>T |
p.N469Y |
Missense |
11/13 |
- |
1 |
X-37665731-A-C |
c.1406A>C |
p.N469T |
Missense |
11/13 |
- |
1 |
X-37665731-AC-GG |
c.1406_1407delinsGG |
p.N469R |
Missense |
11/13 |
- |
1 |
X-37665731-AC-TG |
c.1406_1407delinsTG |
p.N469M |
Missense |
11/13 |
- |
1 |
X-37665731-A-G |
c.1406A>G |
p.N469S |
Missense |
11/13 |
- |
2 |
X-37665731-A-T |
c.1406A>T |
p.N469I |
Missense |
11/13 |
- |
1 |
X-37665732-C-A |
c.1407C>A |
p.N469K |
Missense |
11/13 |
- |
1 |
X-37665732-C-G |
c.1407C>G |
p.N469K |
Missense |
11/13 |
- |
1 |
X-37665733-AA-CC |
c.1408_1409delinsCC |
p.N470P |
Missense |
11/13 |
- |
1 |
X-37665733-AA-CT |
c.1408_1409delinsCT |
p.N470L |
Missense |
11/13 |
- |
1 |
X-37665733-AA-GC |
c.1408_1409delinsGC |
p.N470A |
Missense |
11/13 |
- |
1 |
X-37665733-AA-GG |
c.1408_1409delinsGG |
p.N470G |
Missense |
11/13 |
- |
1 |
X-37665733-AA-GT |
c.1408_1409delinsGT |
p.N470V |
Missense |
11/13 |
- |
1 |
X-37665733-AAT-CAA |
c.1408_1410delinsCAA |
p.N470Q |
Missense |
11/13 |
- |
1 |
X-37665733-AA-TG |
c.1408_1409delinsTG |
p.N470C |
Missense |
11/13 |
- |
1 |
X-37665733-AAT-GAG |
c.1408_1410delinsGAG |
p.N470E |
Missense |
11/13 |
- |
1 |
X-37665733-AA-TT |
c.1408_1409inv |
p.N470F |
Missense |
11/13 |
- |
1 |
X-37665733-AAT-TGG |
c.1408_1410delinsTGG |
p.N470W |
Missense |
11/13 |
- |
1 |
X-37665733-A-C |
c.1408A>C |
p.N470H |
Missense |
11/13 |
- |
1 |
X-37665733-A-G |
c.1408A>G |
p.N470D |
Missense |
11/13 |
- |
1 |
X-37665733-A-T |
c.1408A>T |
p.N470Y |
Missense |
11/13 |
- |
1 |
X-37665734-A-C |
c.1409A>C |
p.N470T |
Missense |
11/13 |
- |
1 |
X-37665734-A-G |
c.1409A>G |
p.N470S |
Missense |
11/13 |
- |
2 |
X-37665734-A-T |
c.1409A>T |
p.N470I |
Missense |
11/13 |
- |
1 |
X-37665734-AT-GG |
c.1409_1410delinsGG |
p.N470R |
Missense |
11/13 |
- |
1 |
X-37665734-AT-TG |
c.1409_1410delinsTG |
p.N470M |
Missense |
11/13 |
- |
1 |
X-37665735-T-A |
c.1410T>A |
p.N470K |
Missense |
11/13 |
- |
1 |
X-37665735-T-G |
c.1410T>G |
p.N470K |
Missense |
11/13 |
- |
1 |
X-37665736-G-A |
c.1411G>A |
p.A471T |
Missense |
11/13 |
- |
1 |
X-37665736-G-C |
c.1411G>C |
p.A471P |
Missense |
11/13 |
- |
1 |
X-37665736-GC-AA |
c.1411_1412delinsAA |
p.A471N |
Missense |
11/13 |
- |
1 |
X-37665736-GC-AT |
c.1411_1412delinsAT |
p.A471I |
Missense |
11/13 |
- |
1 |
X-37665736-GC-CA |
c.1411_1412delinsCA |
p.A471H |
Missense |
11/13 |
- |
1 |
X-37665736-GCC-AAG |
c.1411_1413delinsAAG |
p.A471K |
Missense |
11/13 |
- |
1 |
X-37665736-GCC-ATG |
c.1411_1413delinsATG |
p.A471M |
Missense |
11/13 |
- |
1 |
X-37665736-GCC-CAA |
c.1411_1413delinsCAA |
p.A471Q |
Missense |
11/13 |
- |
1 |
X-37665736-GC-CG |
c.1411_1412delinsCG |
p.A471R |
Missense |
11/13 |
- |
1 |
X-37665736-GC-CT |
c.1411_1412delinsCT |
p.A471L |
Missense |
11/13 |
- |
1 |
X-37665736-GCC-TGG |
c.1411_1413delinsTGG |
p.A471W |
Missense |
11/13 |
- |
1 |
X-37665736-GC-TA |
c.1411_1412delinsTA |
p.A471Y |
Missense |
11/13 |
- |
1 |
X-37665736-GC-TG |
c.1411_1412delinsTG |
p.A471C |
Missense |
11/13 |
- |
1 |
X-37665736-GC-TT |
c.1411_1412delinsTT |
p.A471F |
Missense |
11/13 |
- |
1 |
X-37665736-G-T |
c.1411G>T |
p.A471S |
Missense |
11/13 |
- |
1 |
X-37665737-C-A |
c.1412C>A |
p.A471D |
Missense |
11/13 |
- |
1 |
X-37665737-CC-AG |
c.1412_1413delinsAG |
p.A471E |
Missense |
11/13 |
- |
1 |
X-37665737-C-G |
c.1412C>G |
p.A471G |
Missense |
11/13 |
- |
1 |
X-37665737-C-T |
c.1412C>T |
p.A471V |
Missense |
11/13 |
- |
2 |
X-37665738-C-A |
c.1413C>A |
p.A471= |
Synonymous |
11/13 |
- |
1 |
X-37665738-C-G |
c.1413C>G |
p.A471= |
Synonymous |
11/13 |
- |
1 |
X-37665738-C-T |
c.1413C>T |
p.A471= |
Synonymous |
11/13 |
- |
2 |
X-37665739-G-A |
c.1414G>A |
p.G472S |
Missense |
11/13 |
- |
13 |
X-37665739-G-C |
c.1414G>C |
p.G472R |
Missense |
11/13 |
- |
1 |
X-37665739-GG-AA |
c.1414_1415delinsAA |
p.G472N |
Missense |
11/13 |
- |
1 |
X-37665739-GG-AC |
c.1414_1415delinsAC |
p.G472T |
Missense |
11/13 |
- |
1 |
X-37665739-GG-AT |
c.1414_1415delinsAT |
p.G472I |
Missense |
11/13 |
- |
1 |
X-37665739-GG-CA |
c.1414_1415delinsCA |
p.G472H |
Missense |
11/13 |
- |
1 |
X-37665739-GGC-AAG |
c.1414_1416delinsAAG |
p.G472K |
Missense |
11/13 |
- |
1 |
X-37665739-GGC-ATG |
c.1414_1416delinsATG |
p.G472M |
Missense |
11/13 |
- |
1 |
X-37665739-GG-CC |
c.1414_1415inv |
p.G472P |
Missense |
11/13 |
- |
1 |
X-37665739-GGC-CAA |
c.1414_1416delinsCAA |
p.G472Q |
Missense |
11/13 |
- |
1 |
X-37665739-GG-CT |
c.1414_1415delinsCT |
p.G472L |
Missense |
11/13 |
- |
1 |
X-37665739-GGC-TGG |
c.1414_1416delinsTGG |
p.G472W |
Missense |
11/13 |
- |
1 |
X-37665739-GG-TA |
c.1414_1415delinsTA |
p.G472Y |
Missense |
11/13 |
- |
1 |
X-37665739-GG-TT |
c.1414_1415delinsTT |
p.G472F |
Missense |
11/13 |
- |
1 |
X-37665739-G-T |
c.1414G>T |
p.G472C |
Missense |
11/13 |
- |
1 |
X-37665738-CG-C |
c.1415del |
p.G472Afs*30 |
Frameshift |
11/13 |
- |
2 |
X-37665740-G-A |
c.1415G>A |
p.G472D |
Missense |
11/13 |
- |
2 |
X-37665740-G-C |
c.1415G>C |
p.G472A |
Missense |
11/13 |
- |
1 |
X-37665740-GC-AG |
c.1415_1416delinsAG |
p.G472E |
Missense |
11/13 |
- |
1 |
X-37665740-G-T |
c.1415G>T |
p.G472V |
Missense |
11/13 |
- |
2 |
X-37665742-T-A |
c.1417T>A |
p.F473I |
Missense |
11/13 |
- |
1 |
X-37665742-T-C |
c.1417T>C |
p.F473L |
Missense |
11/13 |
- |
1 |
X-37665742-T-G |
c.1417T>G |
p.F473V |
Missense |
11/13 |
- |
1 |
X-37665742-TT-AA |
c.1417_1418inv |
p.F473N |
Missense |
11/13 |
- |
1 |
X-37665742-TT-AC |
c.1417_1418delinsAC |
p.F473T |
Missense |
11/13 |
- |
1 |
X-37665742-TT-CA |
c.1417_1418delinsCA |
p.F473H |
Missense |
11/13 |
- |
1 |
X-37665742-TTC-AAG |
c.1417_1419delinsAAG |
p.F473K |
Missense |
11/13 |
- |
1 |
X-37665742-TTC-ATG |
c.1417_1419delinsATG |
p.F473M |
Missense |
11/13 |
- |
1 |
X-37665742-TT-CC |
c.1417_1418delinsCC |
p.F473P |
Missense |
11/13 |
- |
1 |
X-37665742-TTC-CAA |
c.1417_1419delinsCAA |
p.F473Q |
Missense |
11/13 |
- |
1 |
X-37665742-TT-CG |
c.1417_1418delinsCG |
p.F473R |
Missense |
11/13 |
- |
1 |
X-37665742-TTC-GAG |
c.1417_1419delinsGAG |
p.F473E |
Missense |
11/13 |
- |
1 |
X-37665742-TT-GA |
c.1417_1418delinsGA |
p.F473D |
Missense |
11/13 |
- |
1 |
X-37665742-TT-GC |
c.1417_1418delinsGC |
p.F473A |
Missense |
11/13 |
- |
1 |
X-37665742-TT-GG |
c.1417_1418delinsGG |
p.F473G |
Missense |
11/13 |
- |
1 |
X-37665744-C-A |
c.1419C>A |
p.F473L |
Missense |
11/13 |
- |
1 |
X-37665744-C-G |
c.1419C>G |
p.F473L |
Missense |
11/13 |
- |
1 |
X-37665743-T-A |
c.1418T>A |
p.F473Y |
Missense |
11/13 |
- |
1 |
X-37665743-T-C |
c.1418T>C |
p.F473S |
Missense |
11/13 |
- |
1 |
X-37665743-TC-GG |
c.1418_1419delinsGG |
p.F473W |
Missense |
11/13 |
- |
1 |
X-37665743-T-G |
c.1418T>G |
p.F473C |
Missense |
11/13 |
- |
1 |
X-37665745-C-A |
c.1420C>A |
p.L474I |
Missense |
11/13 |
- |
1 |
X-37665745-C-G |
c.1420C>G |
p.L474V |
Missense |
11/13 |
- |
1 |
X-37665745-C-T |
c.1420C>T |
p.L474F |
Missense |
11/13 |
- |
1 |
X-37665745-CT-AA |
c.1420_1421delinsAA |
p.L474N |
Missense |
11/13 |
- |
1 |
X-37665745-CT-AC |
c.1420_1421delinsAC |
p.L474T |
Missense |
11/13 |
- |
1 |
X-37665745-CT-AG |
c.1420_1421inv |
p.L474S |
Missense |
11/13 |
- |
1 |
X-37665745-CTC-AAG |
c.1420_1422delinsAAG |
p.L474K |
Missense |
11/13 |
- |
1 |
X-37665745-CTC-ATG |
c.1420_1422delinsATG |
p.L474M |
Missense |
11/13 |
- |
1 |
X-37665745-CTC-GAG |
c.1420_1422inv |
p.L474E |
Missense |
11/13 |
- |
1 |
X-37665745-CTC-TGG |
c.1420_1422delinsTGG |
p.L474W |
Missense |
11/13 |
- |
1 |
X-37665745-CT-GA |
c.1420_1421delinsGA |
p.L474D |
Missense |
11/13 |
- |
1 |
X-37665745-CT-GC |
c.1420_1421delinsGC |
p.L474A |
Missense |
11/13 |
- |
1 |
X-37665745-CT-GG |
c.1420_1421delinsGG |
p.L474G |
Missense |
11/13 |
- |
1 |
X-37665745-CT-TA |
c.1420_1421delinsTA |
p.L474Y |
Missense |
11/13 |
- |
1 |
X-37665745-CT-TG |
c.1420_1421delinsTG |
p.L474C |
Missense |
11/13 |
- |
1 |
X-37665746-T-A |
c.1421T>A |
p.L474H |
Missense |
11/13 |
- |
1 |
X-37665746-T-C |
c.1421T>C |
p.L474P |
Missense |
11/13 |
- |
1 |
X-37665746-TC-AA |
c.1421_1422delinsAA |
p.L474Q |
Missense |
11/13 |
- |
1 |
X-37665746-T-G |
c.1421T>G |
p.L474R |
Missense |
11/13 |
- |
5 |
X-37665747-C-A |
c.1422C>A |
p.L474= |
Synonymous |
11/13 |
- |
1 |
X-37665747-C-G |
c.1422C>G |
p.L474= |
Synonymous |
11/13 |
- |
1 |
X-37665747-C-T |
c.1422C>T |
p.L474= |
Synonymous |
11/13 |
- |
1 |
X-37665748-A-G |
c.1423A>G |
p.S475G |
Missense |
11/13 |
- |
1 |
X-37665748-AG-CA |
c.1423_1424delinsCA |
p.S475H |
Missense |
11/13 |
- |
1 |
X-37665748-AG-CC |
c.1423_1424delinsCC |
p.S475P |
Missense |
11/13 |
- |
1 |
X-37665748-AGC-CAA |
c.1423_1425delinsCAA |
p.S475Q |
Missense |
11/13 |
- |
1 |
X-37665748-AGC-GAG |
c.1423_1425delinsGAG |
p.S475E |
Missense |
11/13 |
- |
1 |
X-37665748-AG-CT |
c.1423_1424inv |
p.S475L |
Missense |
11/13 |
- |
1 |
X-37665748-AGC-TGG |
c.1423_1425delinsTGG |
p.S475W |
Missense |
11/13 |
- |
1 |
X-37665748-AG-GA |
c.1423_1424delinsGA |
p.S475D |
Missense |
11/13 |
- |
1 |
X-37665748-AG-GC |
c.1423_1424delinsGC |
p.S475A |
Missense |
11/13 |
- |
1 |
X-37665748-AG-GT |
c.1423_1424delinsGT |
p.S475V |
Missense |
11/13 |
- |
1 |
X-37665748-AG-TA |
c.1423_1424delinsTA |
p.S475Y |
Missense |
11/13 |
- |
1 |
X-37665748-AG-TT |
c.1423_1424delinsTT |
p.S475F |
Missense |
11/13 |
- |
1 |
X-37665748-A-T |
c.1423A>T |
p.S475C |
Missense |
11/13 |
- |
1 |
X-37665749-G-A |
c.1424G>A |
p.S475N |
Missense |
11/13 |
- |
2 |
X-37665749-G-C |
c.1424G>C |
p.S475T |
Missense |
11/13 |
- |
3 |
X-37665749-GC-AG |
c.1424_1425delinsAG |
p.S475K |
Missense |
11/13 |
- |
1 |
X-37665749-GC-TG |
c.1424_1425delinsTG |
p.S475M |
Missense |
11/13 |
- |
1 |
X-37665749-G-T |
c.1424G>T |
p.S475I |
Missense |
11/13 |
- |
1 |
X-37665748-A-C |
c.1423A>C |
p.S475R |
Missense |
11/13 |
- |
1 |
X-37665750-C-A |
c.1425C>A |
p.S475R |
Missense |
11/13 |
- |
1 |
X-37665750-C-G |
c.1425C>G |
p.S475R |
Missense |
11/13 |
- |
1 |
X-37665751-T-A |
c.1426T>A |
p.Y476N |
Missense |
11/13 |
- |
1 |
X-37665751-TA-AC |
c.1426_1427delinsAC |
p.Y476T |
Missense |
11/13 |
- |
1 |
X-37665751-TA-AT |
c.1426_1427delinsAT |
p.Y476I |
Missense |
11/13 |
- |
1 |
X-37665751-TAC-AAG |
c.1426_1428delinsAAG |
p.Y476K |
Missense |
11/13 |
- |
1 |
X-37665751-TAC-ATG |
c.1426_1428delinsATG |
p.Y476M |
Missense |
11/13 |
- |
1 |
X-37665751-TA-CC |
c.1426_1427delinsCC |
p.Y476P |
Missense |
11/13 |
- |
1 |
X-37665751-TAC-CAA |
c.1426_1428delinsCAA |
p.Y476Q |
Missense |
11/13 |
- |
1 |
X-37665751-TA-CG |
c.1426_1427delinsCG |
p.Y476R |
Missense |
11/13 |
- |
1 |
X-37665751-TAC-GAG |
c.1426_1428delinsGAG |
p.Y476E |
Missense |
11/13 |
- |
1 |
X-37665751-TA-CT |
c.1426_1427delinsCT |
p.Y476L |
Missense |
11/13 |
- |
1 |
X-37665751-TA-GC |
c.1426_1427delinsGC |
p.Y476A |
Missense |
11/13 |
- |
1 |
X-37665751-TA-GG |
c.1426_1427delinsGG |
p.Y476G |
Missense |
11/13 |
- |
1 |
X-37665751-TA-GT |
c.1426_1427delinsGT |
p.Y476V |
Missense |
11/13 |
- |
1 |
X-37665751-T-C |
c.1426T>C |
p.Y476H |
Missense |
11/13 |
- |
1 |
X-37665751-T-G |
c.1426T>G |
p.Y476D |
Missense |
11/13 |
- |
1 |
X-37665752-A-C |
c.1427A>C |
p.Y476S |
Missense |
11/13 |
- |
1 |
X-37665752-AC-GG |
c.1427_1428delinsGG |
p.Y476W |
Missense |
11/13 |
- |
1 |
X-37665752-A-G |
c.1427A>G |
p.Y476C |
Missense |
11/13 |
- |
1 |
X-37665752-A-T |
c.1427A>T |
p.Y476F |
Missense |
11/13 |
- |
1 |
X-37665753-C-A |
c.1428C>A |
p.Y476* |
Nonsense |
11/13 |
- |
1 |
X-37665754-AA-CC |
c.1429_1430delinsCC |
p.N477P |
Missense |
11/13 |
- |
1 |
X-37665754-AAC-CAA |
c.1429_1431delinsCAA |
p.N477Q |
Missense |
11/13 |
- |
1 |
X-37665754-AAC-GAG |
c.1429_1431delinsGAG |
p.N477E |
Missense |
11/13 |
- |
1 |
X-37665754-AA-CT |
c.1429_1430delinsCT |
p.N477L |
Missense |
11/13 |
- |
1 |
X-37665754-AAC-TGG |
c.1429_1431delinsTGG |
p.N477W |
Missense |
11/13 |
- |
1 |
X-37665754-AA-GC |
c.1429_1430delinsGC |
p.N477A |
Missense |
11/13 |
- |
1 |
X-37665754-AA-GG |
c.1429_1430delinsGG |
p.N477G |
Missense |
11/13 |
- |
1 |
X-37665754-AA-GT |
c.1429_1430delinsGT |
p.N477V |
Missense |
11/13 |
- |
1 |
X-37665754-AA-TG |
c.1429_1430delinsTG |
p.N477C |
Missense |
11/13 |
- |
1 |
X-37665754-AA-TT |
c.1429_1430inv |
p.N477F |
Missense |
11/13 |
- |
1 |
X-37665754-A-C |
c.1429A>C |
p.N477H |
Missense |
11/13 |
- |
1 |
X-37665754-A-G |
c.1429A>G |
p.N477D |
Missense |
11/13 |
- |
1 |
X-37665754-A-T |
c.1429A>T |
p.N477Y |
Missense |
11/13 |
- |
1 |
X-37665755-A-C |
c.1430A>C |
p.N477T |
Missense |
11/13 |
- |
1 |
X-37665755-AC-GG |
c.1430_1431delinsGG |
p.N477R |
Missense |
11/13 |
- |
1 |
X-37665755-AC-TG |
c.1430_1431delinsTG |
p.N477M |
Missense |
11/13 |
- |
1 |
X-37665755-A-G |
c.1430A>G |
p.N477S |
Missense |
11/13 |
- |
1 |
X-37665755-A-T |
c.1430A>T |
p.N477I |
Missense |
11/13 |
- |
1 |
X-37665756-C-A |
c.1431C>A |
p.N477K |
Missense |
11/13 |
- |
1 |
X-37665756-C-G |
c.1431C>G |
p.N477K |
Missense |
11/13 |
- |
1 |
X-37665757-A-C |
c.1432A>C |
p.I478L |
Missense |
11/13 |
- |
1 |
X-37665757-A-G |
c.1432A>G |
p.I478V |
Missense |
11/13 |
- |
1 |
X-37665757-A-T |
c.1432A>T |
p.I478F |
Missense |
11/13 |
- |
1 |
X-37665757-AT-CA |
c.1432_1433delinsCA |
p.I478H |
Missense |
11/13 |
- |
1 |
X-37665757-AT-CC |
c.1432_1433delinsCC |
p.I478P |
Missense |
11/13 |
- |
1 |
X-37665757-ATC-CAA |
c.1432_1434delinsCAA |
p.I478Q |
Missense |
11/13 |
- |
1 |
X-37665757-ATC-GAG |
c.1432_1434delinsGAG |
p.I478E |
Missense |
11/13 |
- |
1 |
X-37665757-ATC-TGG |
c.1432_1434delinsTGG |
p.I478W |
Missense |
11/13 |
- |
1 |
X-37665757-AT-GA |
c.1432_1433delinsGA |
p.I478D |
Missense |
11/13 |
- |
1 |
X-37665757-AT-GC |
c.1432_1433delinsGC |
p.I478A |
Missense |
11/13 |
- |
1 |
X-37665757-AT-GG |
c.1432_1433delinsGG |
p.I478G |
Missense |
11/13 |
- |
1 |
X-37665757-AT-TA |
c.1432_1433delinsTA |
p.I478Y |
Missense |
11/13 |
- |
1 |
X-37665757-AT-TG |
c.1432_1433delinsTG |
p.I478C |
Missense |
11/13 |
- |
1 |
X-37665758-T-A |
c.1433T>A |
p.I478N |
Missense |
11/13 |
- |
1 |
X-37665758-T-C |
c.1433T>C |
p.I478T |
Missense |
11/13 |
- |
1 |
X-37665758-TC-AG |
c.1433_1434delinsAG |
p.I478K |
Missense |
11/13 |
- |
1 |
X-37665758-TC-GG |
c.1433_1434delinsGG |
p.I478R |
Missense |
11/13 |
- |
1 |
X-37665758-T-G |
c.1433T>G |
p.I478S |
Missense |
11/13 |
- |
1 |
X-37665759-C-G |
c.1434C>G |
p.I478M |
Missense |
11/13 |
- |
1 |
X-37665760-T-A |
c.1435T>A |
p.Y479N |
Missense |
11/13 |
- |
1 |
X-37665760-TA-AC |
c.1435_1436delinsAC |
p.Y479T |
Missense |
11/13 |
- |
1 |
X-37665760-TA-AT |
c.1435_1436delinsAT |
p.Y479I |
Missense |
11/13 |
- |
1 |
X-37665760-TAC-AAG |
c.1435_1437delinsAAG |
p.Y479K |
Missense |
11/13 |
- |
1 |
X-37665760-TAC-ATG |
c.1435_1437delinsATG |
p.Y479M |
Missense |
11/13 |
- |
1 |
X-37665760-TA-CC |
c.1435_1436delinsCC |
p.Y479P |
Missense |
11/13 |
- |
1 |
X-37665760-TAC-CAA |
c.1435_1437delinsCAA |
p.Y479Q |
Missense |
11/13 |
- |
1 |
X-37665760-TA-CG |
c.1435_1436delinsCG |
p.Y479R |
Missense |
11/13 |
- |
1 |
X-37665760-TAC-GAG |
c.1435_1437delinsGAG |
p.Y479E |
Missense |
11/13 |
- |
1 |
X-37665760-TA-CT |
c.1435_1436delinsCT |
p.Y479L |
Missense |
11/13 |
- |
1 |
X-37665760-TA-GC |
c.1435_1436delinsGC |
p.Y479A |
Missense |
11/13 |
- |
1 |
X-37665760-TA-GG |
c.1435_1436delinsGG |
p.Y479G |
Missense |
11/13 |
- |
1 |
X-37665760-TA-GT |
c.1435_1436delinsGT |
p.Y479V |
Missense |
11/13 |
- |
1 |
X-37665760-T-C |
c.1435T>C |
p.Y479H |
Missense |
11/13 |
- |
1 |
X-37665760-T-G |
c.1435T>G |
p.Y479D |
Missense |
11/13 |
- |
1 |
X-37665761-A-C |
c.1436A>C |
p.Y479S |
Missense |
11/13 |
- |
1 |
X-37665761-AC-GG |
c.1436_1437delinsGG |
p.Y479W |
Missense |
11/13 |
- |
1 |
X-37665761-A-G |
c.1436A>G |
p.Y479C |
Missense |
11/13 |
- |
1 |
X-37665761-A-T |
c.1436A>T |
p.Y479F |
Missense |
11/13 |
- |
1 |
X-37665762-C-A |
c.1437C>A |
p.Y479* |
Nonsense |
11/13 |
- |
6 |
X-37665762-C-G |
c.1437C>G |
p.Y479* |
Nonsense |
11/13 |
- |
1 |
X-37665763-C-A |
c.1438C>A |
p.L480I |
Missense |
11/13 |
- |
1 |
X-37665763-C-G |
c.1438C>G |
p.L480V |
Missense |
11/13 |
- |
1 |
X-37665763-C-T |
c.1438C>T |
p.L480F |
Missense |
11/13 |
- |
2 |
X-37665763-CT-AA |
c.1438_1439delinsAA |
p.L480N |
Missense |
11/13 |
- |
1 |
X-37665763-CT-AC |
c.1438_1439delinsAC |
p.L480T |
Missense |
11/13 |
- |
1 |
X-37665763-CT-AG |
c.1438_1439inv |
p.L480S |
Missense |
11/13 |
- |
1 |
X-37665763-CTC-AAG |
c.1438_1440delinsAAG |
p.L480K |
Missense |
11/13 |
- |
1 |
X-37665763-CTC-ATG |
c.1438_1440delinsATG |
p.L480M |
Missense |
11/13 |
- |
1 |
X-37665763-CTC-GAG |
c.1438_1440inv |
p.L480E |
Missense |
11/13 |
- |
1 |
X-37665763-CTC-TGG |
c.1438_1440delinsTGG |
p.L480W |
Missense |
11/13 |
- |
1 |
X-37665763-CT-GA |
c.1438_1439delinsGA |
p.L480D |
Missense |
11/13 |
- |
1 |
X-37665763-CT-GC |
c.1438_1439delinsGC |
p.L480A |
Missense |
11/13 |
- |
1 |
X-37665763-CT-GG |
c.1438_1439delinsGG |
p.L480G |
Missense |
11/13 |
- |
1 |
X-37665763-CT-TA |
c.1438_1439delinsTA |
p.L480Y |
Missense |
11/13 |
- |
1 |
X-37665763-CT-TG |
c.1438_1439delinsTG |
p.L480C |
Missense |
11/13 |
- |
1 |
X-37665764-T-A |
c.1439T>A |
p.L480H |
Missense |
11/13 |
- |
1 |
X-37665764-T-C |
c.1439T>C |
p.L480P |
Missense |
11/13 |
- |
1 |
X-37665764-TC-AA |
c.1439_1440delinsAA |
p.L480Q |
Missense |
11/13 |
- |
1 |
X-37665764-T-G |
c.1439T>G |
p.L480R |
Missense |
11/13 |
- |
1 |
X-37665766-A-C |
c.1441A>C |
p.T481P |
Missense |
11/13 |
- |
4 |
X-37665766-AC-CA |
c.1441_1442delinsCA |
p.T481H |
Missense |
11/13 |
- |
1 |
X-37665766-AC-CT |
c.1441_1442delinsCT |
p.T481L |
Missense |
11/13 |
- |
1 |
X-37665766-AC-GA |
c.1441_1442delinsGA |
p.T481D |
Missense |
11/13 |
- |
1 |
X-37665766-AC-GG |
c.1441_1442delinsGG |
p.T481G |
Missense |
11/13 |
- |
1 |
X-37665766-AC-GT |
c.1441_1442inv |
p.T481V |
Missense |
11/13 |
- |
1 |
X-37665766-AC-TA |
c.1441_1442delinsTA |
p.T481Y |
Missense |
11/13 |
- |
1 |
X-37665766-ACT-CAA |
c.1441_1443delinsCAA |
p.T481Q |
Missense |
11/13 |
- |
1 |
X-37665766-AC-TG |
c.1441_1442delinsTG |
p.T481C |
Missense |
11/13 |
- |
1 |
X-37665766-ACT-GAG |
c.1441_1443delinsGAG |
p.T481E |
Missense |
11/13 |
- |
1 |
X-37665766-AC-TT |
c.1441_1442delinsTT |
p.T481F |
Missense |
11/13 |
- |
1 |
X-37665766-ACT-TGG |
c.1441_1443delinsTGG |
p.T481W |
Missense |
11/13 |
- |
1 |
X-37665766-A-G |
c.1441A>G |
p.T481A |
Missense |
11/13 |
- |
1 |
X-37665766-A-T |
c.1441A>T |
p.T481S |
Missense |
11/13 |
- |
1 |
X-37665767-C-A |
c.1442C>A |
p.T481N |
Missense |
11/13 |
- |
1 |
X-37665767-C-G |
c.1442C>G |
p.T481S |
Missense |
11/13 |
- |
1 |
X-37665767-C-T |
c.1442C>T |
p.T481I |
Missense |
11/13 |
- |
2 |
X-37665767-CT-AG |
c.1442_1443inv |
p.T481K |
Missense |
11/13 |
- |
1 |
X-37665767-CT-GG |
c.1442_1443delinsGG |
p.T481R |
Missense |
11/13 |
- |
1 |
X-37665767-CT-TG |
c.1442_1443delinsTG |
p.T481M |
Missense |
11/13 |
- |
1 |
X-37665769-G-A |
c.1444G>A |
p.G482S |
Missense |
11/13 |
- |
2 |
X-37665769-G-C |
c.1444G>C |
p.G482R |
Missense |
11/13 |
- |
1 |
X-37665769-GG-AA |
c.1444_1445delinsAA |
p.G482N |
Missense |
11/13 |
- |
1 |
X-37665769-GG-AC |
c.1444_1445delinsAC |
p.G482T |
Missense |
11/13 |
- |
1 |
X-37665769-GG-AT |
c.1444_1445delinsAT |
p.G482I |
Missense |
11/13 |
- |
1 |
X-37665769-GG-CA |
c.1444_1445delinsCA |
p.G482H |
Missense |
11/13 |
- |
1 |
X-37665769-GGC-AAG |
c.1444_1446delinsAAG |
p.G482K |
Missense |
11/13 |
- |
1 |
X-37665769-GGC-ATG |
c.1444_1446delinsATG |
p.G482M |
Missense |
11/13 |
- |
1 |
X-37665769-GG-CC |
c.1444_1445inv |
p.G482P |
Missense |
11/13 |
- |
1 |
X-37665769-GGC-CAA |
c.1444_1446delinsCAA |
p.G482Q |
Missense |
11/13 |
- |
1 |
X-37665769-GG-CT |
c.1444_1445delinsCT |
p.G482L |
Missense |
11/13 |
- |
1 |
X-37665769-GGC-TGG |
c.1444_1446delinsTGG |
p.G482W |
Missense |
11/13 |
- |
1 |
X-37665769-GG-TA |
c.1444_1445delinsTA |
p.G482Y |
Missense |
11/13 |
- |
1 |
X-37665769-GG-TT |
c.1444_1445delinsTT |
p.G482F |
Missense |
11/13 |
- |
1 |
X-37665769-G-T |
c.1444G>T |
p.G482C |
Missense |
11/13 |
- |
1 |
X-37665770-G-A |
c.1445G>A |
p.G482D |
Missense |
11/13 |
- |
2 |
X-37665770-G-C |
c.1445G>C |
p.G482A |
Missense |
11/13 |
- |
1 |
X-37665770-GC-AG |
c.1445_1446delinsAG |
p.G482E |
Missense |
11/13 |
- |
1 |
X-37665770-G-T |
c.1445G>T |
p.G482V |
Missense |
11/13 |
- |
1 |
X-37665772-CTG-C |
c.1447_1448del |
p.W483Gfs*2 |
Frameshift |
11/13 |
- |
1 |
X-37665772-T-A |
c.1447T>A |
p.W483R |
Missense |
11/13 |
- |
4 |
X-37665772-T-C |
c.1447T>C |
p.W483R |
Missense |
11/13 |
- |
4 |
X-37665772-T-G |
c.1447T>G |
p.W483G |
Missense |
11/13 |
- |
1 |
X-37665772-TG-AA |
c.1447_1448delinsAA |
p.W483K |
Missense |
11/13 |
- |
1 |
X-37665772-TG-AC |
c.1447_1448delinsAC |
p.W483T |
Missense |
11/13 |
- |
1 |
X-37665772-TG-AT |
c.1447_1448delinsAT |
p.W483M |
Missense |
11/13 |
- |
1 |
X-37665772-TG-CA |
c.1447_1448inv |
p.W483Q |
Missense |
11/13 |
- |
1 |
X-37665772-TG-CC |
c.1447_1448delinsCC |
p.W483P |
Missense |
11/13 |
- |
1 |
X-37665772-TG-GA |
c.1447_1448delinsGA |
p.W483E |
Missense |
11/13 |
- |
1 |
X-37665772-TGG-AAC |
c.1447_1449delinsAAC |
p.W483N |
Missense |
11/13 |
- |
1 |
X-37665772-TGG-ATC |
c.1447_1449delinsATC |
p.W483I |
Missense |
11/13 |
- |
1 |
X-37665772-TG-GC |
c.1447_1448delinsGC |
p.W483A |
Missense |
11/13 |
- |
1 |
X-37665772-TGG-CAT |
c.1447_1449delinsCAT |
p.W483H |
Missense |
11/13 |
- |
1 |
X-37665772-TGG-GAC |
c.1447_1449delinsGAC |
p.W483D |
Missense |
11/13 |
- |
1 |
X-37665772-TG-GT |
c.1447_1448delinsGT |
p.W483V |
Missense |
11/13 |
- |
1 |
X-37665773-G-A |
c.1448G>A |
p.W483* |
Nonsense |
11/13 |
- |
2 |
X-37665773-G-C |
c.1448G>C |
p.W483S |
Missense |
11/13 |
- |
1 |
X-37665773-GG-AT |
c.1448_1449delinsAT |
p.W483Y |
Missense |
11/13 |
- |
1 |
X-37665773-GG-TT |
c.1448_1449delinsTT |
p.W483F |
Missense |
11/13 |
- |
1 |
X-37665773-G-T |
c.1448G>T |
p.W483L |
Missense |
11/13 |
- |
1 |
X-37665774-G-A |
c.1449G>A |
p.W483* |
Nonsense |
11/13 |
- |
1 |
X-37665774-G-C |
c.1449G>C |
p.W483C |
Missense |
11/13 |
- |
1 |
X-37665774-G-T |
c.1449G>T |
p.W483C |
Missense |
11/13 |
- |
1 |
X-37665780-AG-A |
c.1455del |
p.E485Dfs*17 |
Frameshift |
11/13 |
- |
1 |
X-37665780-G-GT |
c.1456dup |
p.S486Ffs*11 |
Frameshift |
11/13 |
- |
1 |
X-37665781-TCT-GAG |
c.1456_1458delinsGAG |
p.S486E |
Missense |
11/13 |
- |
1 |
X-37665781-T-G |
c.1456T>G |
p.S486A |
Missense |
11/13 |
- |
2 |
X-37665784-C-T |
c.1459C>T |
p.Q487* |
Nonsense |
11/13 |
- |
8 |
X-37665786-G-C |
c.1461G>C |
p.Q487H |
Missense |
11/13 |
- |
1 |
X-37665786-G-T |
c.1461G>T |
p.Q487H |
Missense |
11/13 |
- |
1 |
X-37665787-G-A |
c.1461+1G>A |
- |
IntronicSNV |
- |
11/12 |
2 |
X-37665787-G-T |
c.1461+1G>T |
- |
IntronicSNV |
- |
11/12 |
1 |
X-37665788-GT-G |
c.1461+2del |
- |
IntronicDeletion |
- |
11/12 |
1 |
X-37665814-C-T |
c.1461+28C>T |
- |
IntronicSNV |
- |
11/12 |
2 |
X-37666245-A-G |
c.1461+459A>G |
- |
IntronicSNV |
- |
11/12 |
2 |
X-37668818-AG-A |
c.1462del |
p.A488Pfs*14 |
Frameshift |
12/13 |
- |
1 |
X-37668817-TAGGCCAATCACTTTGCTGTGCACCATGATG-T |
c.1463_1492del |
p.A488_E497del |
InFrameDeletion |
12/13 |
- |
2 |
X-37668821-C-A |
c.1463C>A |
p.A488D |
Missense |
12/13 |
- |
6 |
X-37668821-C-T |
c.1463C>T |
p.A488V |
Missense |
12/13 |
- |
1 |
X-37668820-GC-G |
c.1464del |
p.N489Ifs*13 |
Frameshift |
12/13 |
- |
1 |
X-37668824-AAT-A |
c.1466_1467del |
p.N489Tfs*7 |
Frameshift |
12/13 |
- |
1 |
X-37668832-G-T |
c.1474G>T |
p.A492S |
Missense |
12/13 |
- |
1 |
X-37668838-C-A |
c.1480C>A |
p.H494N |
Missense |
12/13 |
- |
1 |
X-37668838-C-T |
c.1480C>T |
p.H494Y |
Missense |
12/13 |
- |
1 |
X-37668840-C-T |
c.1482C>T |
p.H494= |
Synonymous |
12/13 |
- |
1 |
X-37668842-A-C |
c.1484A>C |
p.H495P |
Missense |
12/13 |
- |
3 |
X-37668842-A-G |
c.1484A>G |
p.H495R |
Missense |
12/13 |
- |
1 |
X-37668843-T-C |
c.1485T>C |
p.H495= |
Synonymous |
12/13 |
- |
2 |
X-37668844-G-C |
c.1486G>C |
p.D496H |
Missense |
12/13 |
- |
2 |
X-37668841-CATG-C |
c.1488_1490del |
p.D496del |
InFrameDeletion |
12/13 |
- |
1 |
X-37668846-TGAG-T |
c.1492_1494del |
p.E498del |
InFrameDeletion |
12/13 |
- |
1 |
X-37668849-GGA-G |
c.1494_1495del |
p.K499Rfs*19 |
Frameshift |
12/13 |
- |
1 |
X-37668854-A-C |
c.1496A>C |
p.K499T |
Missense |
12/13 |
- |
1 |
X-37668852-GA-G |
c.1497del |
p.D500Mfs*2 |
Frameshift |
12/13 |
- |
1 |
X-37668855-A-G |
c.1497A>G |
p.K499= |
Synonymous |
12/13 |
- |
1 |
X-37668856-G-A |
c.1498G>A |
p.D500N |
Missense |
12/13 |
- |
4 |
X-37668856-GA-TT |
c.1498_1499delinsTT |
p.D500F |
Missense |
12/13 |
- |
1 |
X-37668856-G-C |
c.1498G>C |
p.D500H |
Missense |
12/13 |
- |
5 |
X-37668856-G-T |
c.1498G>T |
p.D500Y |
Missense |
12/13 |
- |
5 |
X-37668857-A-G |
c.1499A>G |
p.D500G |
Missense |
12/13 |
- |
12 |
X-37668858-T-A |
c.1500T>A |
p.D500E |
Missense |
12/13 |
- |
3 |
X-37668858-T-G |
c.1500T>G |
p.D500E |
Missense |
12/13 |
- |
4 |
X-37668861-G-A |
c.1503G>A |
p.V501= |
Synonymous |
12/13 |
- |
2 |
X-37668861-G-C |
c.1503G>C |
p.V501= |
Synonymous |
12/13 |
- |
1 |
X-37668861-G-T |
c.1503G>T |
p.V501= |
Synonymous |
12/13 |
- |
1 |
X-37668863-T-C |
c.1505T>C |
p.I502T |
Missense |
12/13 |
- |
1 |
X-37668865-A-G |
c.1507A>G |
p.T503A |
Missense |
12/13 |
- |
1 |
X-37668866-C-A |
c.1508C>A |
p.T503K |
Missense |
12/13 |
- |
2 |
X-37668866-C-T |
c.1508C>T |
p.T503I |
Missense |
12/13 |
- |
2 |
X-37668867-CA-C |
c.1509del |
p.G504Afs*2 |
Frameshift |
12/13 |
- |
1 |
X-37668869-G-C |
c.1511G>C |
p.G504A |
Missense |
12/13 |
- |
2 |
X-37668872-T-C |
c.1514T>C |
p.L505P |
Missense |
12/13 |
- |
4 |
X-37668872-T-G |
c.1514T>G |
p.L505R |
Missense |
12/13 |
- |
8 |
X-37668871-C-T |
c.1513C>T |
p.L505= |
Synonymous |
12/13 |
- |
2 |
X-37668873-G-A |
c.1515G>A |
p.L505= |
Synonymous |
12/13 |
- |
3 |
X-37668873-G-C |
c.1515G>C |
p.L505= |
Synonymous |
12/13 |
- |
2 |
X-37668873-G-T |
c.1515G>T |
p.L505= |
Synonymous |
12/13 |
- |
2 |
X-37668876-A-G |
c.1518A>G |
p.K506= |
Synonymous |
12/13 |
- |
1 |
X-37668877-ACAAAAGACT-A |
c.1519_1527del |
p.Q507_T509del |
InFrameDeletion |
12/13 |
- |
1 |
X-37668877-C-A |
c.1519C>A |
p.Q507K |
Missense |
12/13 |
- |
1 |
X-37668877-CAA-AAC |
c.1519_1521delinsAAC |
p.Q507N |
Missense |
12/13 |
- |
1 |
X-37668877-CAA-ATG |
c.1519_1521delinsATG |
p.Q507M |
Missense |
12/13 |
- |
1 |
X-37668877-CA-AC |
c.1519_1520delinsAC |
p.Q507T |
Missense |
12/13 |
- |
1 |
X-37668877-CAA-GAC |
c.1519_1521delinsGAC |
p.Q507D |
Missense |
12/13 |
- |
1 |
X-37668877-CA-AT |
c.1519_1520delinsAT |
p.Q507I |
Missense |
12/13 |
- |
1 |
X-37668877-CAA-TAT |
c.1519_1521delinsTAT |
p.Q507Y |
Missense |
12/13 |
- |
1 |
X-37668877-CAA-TGG |
c.1519_1521delinsTGG |
p.Q507W |
Missense |
12/13 |
- |
1 |
X-37668877-CAA-TGT |
c.1519_1521delinsTGT |
p.Q507C |
Missense |
12/13 |
- |
1 |
X-37668877-CAA-TTT |
c.1519_1521delinsTTT |
p.Q507F |
Missense |
12/13 |
- |
1 |
X-37668877-CA-GC |
c.1519_1520delinsGC |
p.Q507A |
Missense |
12/13 |
- |
1 |
X-37668877-CA-GG |
c.1519_1520delinsGG |
p.Q507G |
Missense |
12/13 |
- |
1 |
X-37668877-CA-GT |
c.1519_1520delinsGT |
p.Q507V |
Missense |
12/13 |
- |
1 |
X-37668877-CA-TC |
c.1519_1520delinsTC |
p.Q507S |
Missense |
12/13 |
- |
1 |
X-37668877-C-G |
c.1519C>G |
p.Q507E |
Missense |
12/13 |
- |
1 |
X-37668877-C-T |
c.1519C>T |
p.Q507* |
Nonsense |
12/13 |
- |
1 |
X-37668878-A-C |
c.1520A>C |
p.Q507P |
Missense |
12/13 |
- |
1 |
X-37668878-A-G |
c.1520A>G |
p.Q507R |
Missense |
12/13 |
- |
1 |
X-37668878-A-T |
c.1520A>T |
p.Q507L |
Missense |
12/13 |
- |
1 |
X-37668877-CAAAAG-C |
c.1521_1525del |
p.Q507Hfs*10 |
Frameshift |
12/13 |
- |
1 |
X-37668879-A-C |
c.1521A>C |
p.Q507H |
Missense |
12/13 |
- |
1 |
X-37668879-A-T |
c.1521A>T |
p.Q507H |
Missense |
12/13 |
- |
1 |
X-37668877-CAA-C |
c.1522_1523del |
p.K508Dfs*10 |
Frameshift |
12/13 |
- |
2 |
X-37668880-AA-CC |
c.1522_1523delinsCC |
p.K508P |
Missense |
12/13 |
- |
1 |
X-37668880-AA-CT |
c.1522_1523delinsCT |
p.K508L |
Missense |
12/13 |
- |
1 |
X-37668880-AA-GC |
c.1522_1523delinsGC |
p.K508A |
Missense |
12/13 |
- |
2 |
X-37668880-AAG-CAT |
c.1522_1524delinsCAT |
p.K508H |
Missense |
12/13 |
- |
1 |
X-37668880-AA-GG |
c.1522_1523delinsGG |
p.K508G |
Missense |
12/13 |
- |
1 |
X-37668880-AAG-GAC |
c.1522_1524delinsGAC |
p.K508D |
Missense |
12/13 |
- |
1 |
X-37668880-AA-GT |
c.1522_1523delinsGT |
p.K508V |
Missense |
12/13 |
- |
1 |
X-37668880-AAG-TAT |
c.1522_1524delinsTAT |
p.K508Y |
Missense |
12/13 |
- |
1 |
X-37668880-AAG-TGT |
c.1522_1524delinsTGT |
p.K508C |
Missense |
12/13 |
- |
1 |
X-37668880-AAG-TTT |
c.1522_1524delinsTTT |
p.K508F |
Missense |
12/13 |
- |
1 |
X-37668880-AA-TG |
c.1522_1523delinsTG |
p.K508W |
Missense |
12/13 |
- |
1 |
X-37668880-A-C |
c.1522A>C |
p.K508Q |
Missense |
12/13 |
- |
1 |
X-37668880-A-G |
c.1522A>G |
p.K508E |
Missense |
12/13 |
- |
1 |
X-37668877-CA-C |
c.1523del |
p.K508Rfs*25 |
Frameshift |
12/13 |
- |
1 |
X-37668881-A-C |
c.1523A>C |
p.K508T |
Missense |
12/13 |
- |
1 |
X-37668881-A-G |
c.1523A>G |
p.K508R |
Missense |
12/13 |
- |
1 |
X-37668881-AG-GC |
c.1523_1524delinsGC |
p.K508S |
Missense |
12/13 |
- |
1 |
X-37668881-AG-TC |
c.1523_1524delinsTC |
p.K508I |
Missense |
12/13 |
- |
1 |
X-37668881-A-T |
c.1523A>T |
p.K508M |
Missense |
12/13 |
- |
1 |
X-37668882-G-A |
c.1524G>A |
p.K508= |
Synonymous |
12/13 |
- |
3 |
X-37668882-G-C |
c.1524G>C |
p.K508N |
Missense |
12/13 |
- |
3 |
X-37668882-G-T |
c.1524G>T |
p.K508N |
Missense |
12/13 |
- |
2 |
X-37668883-A-C |
c.1525A>C |
p.T509P |
Missense |
12/13 |
- |
1 |
X-37668883-AC-CA |
c.1525_1526delinsCA |
p.T509H |
Missense |
12/13 |
- |
1 |
X-37668883-AC-CT |
c.1525_1526delinsCT |
p.T509L |
Missense |
12/13 |
- |
1 |
X-37668883-AC-GA |
c.1525_1526delinsGA |
p.T509D |
Missense |
12/13 |
- |
1 |
X-37668883-AC-GG |
c.1525_1526delinsGG |
p.T509G |
Missense |
12/13 |
- |
1 |
X-37668883-AC-GT |
c.1525_1526inv |
p.T509V |
Missense |
12/13 |
- |
1 |
X-37668883-AC-TA |
c.1525_1526delinsTA |
p.T509Y |
Missense |
12/13 |
- |
1 |
X-37668883-ACT-CAA |
c.1525_1527delinsCAA |
p.T509Q |
Missense |
12/13 |
- |
1 |
X-37668883-AC-TG |
c.1525_1526delinsTG |
p.T509C |
Missense |
12/13 |
- |
1 |
X-37668883-ACT-GAG |
c.1525_1527delinsGAG |
p.T509E |
Missense |
12/13 |
- |
1 |
X-37668883-AC-TT |
c.1525_1526delinsTT |
p.T509F |
Missense |
12/13 |
- |
1 |
X-37668883-ACT-TGG |
c.1525_1527delinsTGG |
p.T509W |
Missense |
12/13 |
- |
1 |
X-37668883-A-G |
c.1525A>G |
p.T509A |
Missense |
12/13 |
- |
1 |
X-37668883-GACT-G |
c.1525_1527del |
p.T509del |
InFrameDeletion |
12/13 |
- |
2 |
X-37668883-A-T |
c.1525A>T |
p.T509S |
Missense |
12/13 |
- |
1 |
X-37668884-C-A |
c.1526C>A |
p.T509N |
Missense |
12/13 |
- |
2 |
X-37668884-C-G |
c.1526C>G |
p.T509S |
Missense |
12/13 |
- |
1 |
X-37668884-C-T |
c.1526C>T |
p.T509I |
Missense |
12/13 |
- |
1 |
X-37668884-CT-AG |
c.1526_1527inv |
p.T509K |
Missense |
12/13 |
- |
1 |
X-37668884-CT-GG |
c.1526_1527delinsGG |
p.T509R |
Missense |
12/13 |
- |
1 |
X-37668884-CT-TG |
c.1526_1527delinsTG |
p.T509M |
Missense |
12/13 |
- |
1 |
X-37668884-CTT-C |
c.1528_1529del |
p.L510Vfs*8 |
Frameshift |
12/13 |
- |
1 |
X-37668886-T-A |
c.1528T>A |
p.L510M |
Missense |
12/13 |
- |
1 |
X-37668886-T-G |
c.1528T>G |
p.L510V |
Missense |
12/13 |
- |
1 |
X-37668886-TT-AA |
c.1528_1529inv |
p.L510K |
Missense |
12/13 |
- |
1 |
X-37668886-TT-AC |
c.1528_1529delinsAC |
p.L510T |
Missense |
12/13 |
- |
1 |
X-37668886-TT-AG |
c.1528_1529delinsAG |
p.L510R |
Missense |
12/13 |
- |
1 |
X-37668886-TT-CA |
c.1528_1529delinsCA |
p.L510Q |
Missense |
12/13 |
- |
1 |
X-37668886-TT-CC |
c.1528_1529delinsCC |
p.L510P |
Missense |
12/13 |
- |
1 |
X-37668886-TT-GA |
c.1528_1529delinsGA |
p.L510E |
Missense |
12/13 |
- |
1 |
X-37668886-TTG-AAC |
c.1528_1530delinsAAC |
p.L510N |
Missense |
12/13 |
- |
1 |
X-37668886-TTG-ATC |
c.1528_1530delinsATC |
p.L510I |
Missense |
12/13 |
- |
1 |
X-37668886-TT-GC |
c.1528_1529delinsGC |
p.L510A |
Missense |
12/13 |
- |
1 |
X-37668886-TTG-CAT |
c.1528_1530delinsCAT |
p.L510H |
Missense |
12/13 |
- |
1 |
X-37668886-TT-GG |
c.1528_1529delinsGG |
p.L510G |
Missense |
12/13 |
- |
1 |
X-37668886-TTG-GAC |
c.1528_1530delinsGAC |
p.L510D |
Missense |
12/13 |
- |
1 |
X-37668887-T-C |
c.1529T>C |
p.L510S |
Missense |
12/13 |
- |
1 |
X-37668887-T-G |
c.1529T>G |
p.L510W |
Missense |
12/13 |
- |
1 |
X-37668887-TG-AT |
c.1529_1530delinsAT |
p.L510Y |
Missense |
12/13 |
- |
1 |
X-37668887-TG-GT |
c.1529_1530delinsGT |
p.L510C |
Missense |
12/13 |
- |
1 |
X-37668888-G-C |
c.1530G>C |
p.L510F |
Missense |
12/13 |
- |
1 |
X-37668888-G-T |
c.1530G>T |
p.L510F |
Missense |
12/13 |
- |
1 |
X-37668887-TGTATGGACG-T |
c.1531_1539del |
p.Y511_R513del |
InFrameDeletion |
12/13 |
- |
1 |
X-37668889-T-A |
c.1531T>A |
p.Y511N |
Missense |
12/13 |
- |
1 |
X-37668889-TA-AC |
c.1531_1532delinsAC |
p.Y511T |
Missense |
12/13 |
- |
1 |
X-37668889-TA-AT |
c.1531_1532delinsAT |
p.Y511I |
Missense |
12/13 |
- |
1 |
X-37668889-TA-CC |
c.1531_1532delinsCC |
p.Y511P |
Missense |
12/13 |
- |
1 |
X-37668889-TA-CG |
c.1531_1532delinsCG |
p.Y511R |
Missense |
12/13 |
- |
1 |
X-37668889-TA-CT |
c.1531_1532delinsCT |
p.Y511L |
Missense |
12/13 |
- |
1 |
X-37668889-TA-GC |
c.1531_1532delinsGC |
p.Y511A |
Missense |
12/13 |
- |
1 |
X-37668889-TA-GG |
c.1531_1532delinsGG |
p.Y511G |
Missense |
12/13 |
- |
1 |
X-37668889-TA-GT |
c.1531_1532delinsGT |
p.Y511V |
Missense |
12/13 |
- |
1 |
X-37668889-TAT-AAG |
c.1531_1533delinsAAG |
p.Y511K |
Missense |
12/13 |
- |
1 |
X-37668889-TAT-ATG |
c.1531_1533delinsATG |
p.Y511M |
Missense |
12/13 |
- |
1 |
X-37668889-TAT-CAA |
c.1531_1533delinsCAA |
p.Y511Q |
Missense |
12/13 |
- |
1 |
X-37668889-TAT-GAG |
c.1531_1533delinsGAG |
p.Y511E |
Missense |
12/13 |
- |
1 |
X-37668889-T-C |
c.1531T>C |
p.Y511H |
Missense |
12/13 |
- |
2 |
X-37668889-T-G |
c.1531T>G |
p.Y511D |
Missense |
12/13 |
- |
3 |
X-37668890-A-C |
c.1532A>C |
p.Y511S |
Missense |
12/13 |
- |
1 |
X-37668890-A-G |
c.1532A>G |
p.Y511C |
Missense |
12/13 |
- |
1 |
X-37668890-A-T |
c.1532A>T |
p.Y511F |
Missense |
12/13 |
- |
1 |
X-37668890-AT-GG |
c.1532_1533delinsGG |
p.Y511W |
Missense |
12/13 |
- |
1 |
X-37668891-T-A |
c.1533T>A |
p.Y511* |
Nonsense |
12/13 |
- |
1 |
X-37668892-G-A |
c.1534G>A |
p.G512R |
Missense |
12/13 |
- |
1 |
X-37668892-G-C |
c.1534G>C |
p.G512R |
Missense |
12/13 |
- |
1 |
X-37668892-GG-AA |
c.1534_1535delinsAA |
p.G512K |
Missense |
12/13 |
- |
1 |
X-37668892-GGA-AAC |
c.1534_1536delinsAAC |
p.G512N |
Missense |
12/13 |
- |
1 |
X-37668892-GGA-AGC |
c.1534_1536delinsAGC |
p.G512S |
Missense |
12/13 |
- |
1 |
X-37668892-GGA-ATG |
c.1534_1536delinsATG |
p.G512M |
Missense |
12/13 |
- |
1 |
X-37668892-GG-AC |
c.1534_1535delinsAC |
p.G512T |
Missense |
12/13 |
- |
1 |
X-37668892-GGA-CAT |
c.1534_1536delinsCAT |
p.G512H |
Missense |
12/13 |
- |
1 |
X-37668892-GG-AT |
c.1534_1535delinsAT |
p.G512I |
Missense |
12/13 |
- |
1 |
X-37668892-GGA-TAT |
c.1534_1536delinsTAT |
p.G512Y |
Missense |
12/13 |
- |
1 |
X-37668892-GGA-TGG |
c.1534_1536delinsTGG |
p.G512W |
Missense |
12/13 |
- |
1 |
X-37668892-GGA-TGT |
c.1534_1536delinsTGT |
p.G512C |
Missense |
12/13 |
- |
1 |
X-37668892-GGA-TTT |
c.1534_1536delinsTTT |
p.G512F |
Missense |
12/13 |
- |
1 |
X-37668892-GG-CA |
c.1534_1535delinsCA |
p.G512Q |
Missense |
12/13 |
- |
1 |
X-37668892-GG-CC |
c.1534_1535inv |
p.G512P |
Missense |
12/13 |
- |
1 |
X-37668892-GG-CT |
c.1534_1535delinsCT |
p.G512L |
Missense |
12/13 |
- |
1 |
X-37668893-G-A |
c.1535G>A |
p.G512E |
Missense |
12/13 |
- |
1 |
X-37668893-GA-AC |
c.1535_1536delinsAC |
p.G512D |
Missense |
12/13 |
- |
1 |
X-37668893-G-C |
c.1535G>C |
p.G512A |
Missense |
12/13 |
- |
2 |
X-37668893-G-T |
c.1535G>T |
p.G512V |
Missense |
12/13 |
- |
1 |
X-37668894-A-C |
c.1536A>C |
p.G512= |
Synonymous |
12/13 |
- |
1 |
X-37668894-A-G |
c.1536A>G |
p.G512= |
Synonymous |
12/13 |
- |
1 |
X-37668894-A-T |
c.1536A>T |
p.G512= |
Synonymous |
12/13 |
- |
2 |
X-37668895-C-G |
c.1537C>G |
p.R513G |
Missense |
12/13 |
- |
1 |
X-37668895-CG-AA |
c.1537_1538delinsAA |
p.R513K |
Missense |
12/13 |
- |
1 |
X-37668895-CG-AC |
c.1537_1538delinsAC |
p.R513T |
Missense |
12/13 |
- |
1 |
X-37668895-CG-AT |
c.1537_1538delinsAT |
p.R513M |
Missense |
12/13 |
- |
1 |
X-37668895-CG-GA |
c.1537_1538delinsGA |
p.R513E |
Missense |
12/13 |
- |
1 |
X-37668895-CGG-AAC |
c.1537_1539delinsAAC |
p.R513N |
Missense |
12/13 |
- |
1 |
X-37668895-CGG-AGC |
c.1537_1539delinsAGC |
p.R513S |
Missense |
12/13 |
- |
1 |
X-37668895-CGG-ATC |
c.1537_1539delinsATC |
p.R513I |
Missense |
12/13 |
- |
1 |
X-37668895-CG-GC |
c.1537_1538delinsGC |
p.R513A |
Missense |
12/13 |
- |
1 |
X-37668895-CGG-GAC |
c.1537_1539delinsGAC |
p.R513D |
Missense |
12/13 |
- |
1 |
X-37668895-CG-GT |
c.1537_1538delinsGT |
p.R513V |
Missense |
12/13 |
- |
1 |
X-37668895-CGG-TAT |
c.1537_1539delinsTAT |
p.R513Y |
Missense |
12/13 |
- |
1 |
X-37668895-CGG-TGT |
c.1537_1539delinsTGT |
p.R513C |
Missense |
12/13 |
- |
1 |
X-37668895-CGG-TTT |
c.1537_1539delinsTTT |
p.R513F |
Missense |
12/13 |
- |
1 |
X-37668895-C-T |
c.1537C>T |
p.R513W |
Missense |
12/13 |
- |
1 |
X-37668896-G-A |
c.1538G>A |
p.R513Q |
Missense |
12/13 |
- |
1 |
X-37668896-G-C |
c.1538G>C |
p.R513P |
Missense |
12/13 |
- |
1 |
X-37668896-GG-AT |
c.1538_1539delinsAT |
p.R513H |
Missense |
12/13 |
- |
1 |
X-37668896-G-T |
c.1538G>T |
p.R513L |
Missense |
12/13 |
- |
1 |
X-37668898-C-A |
c.1540C>A |
p.P514T |
Missense |
12/13 |
- |
2 |
X-37668898-CC-AA |
c.1540_1541delinsAA |
p.P514N |
Missense |
12/13 |
- |
1 |
X-37668898-CC-AT |
c.1540_1541delinsAT |
p.P514I |
Missense |
12/13 |
- |
1 |
X-37668898-CCC-AAG |
c.1540_1542delinsAAG |
p.P514K |
Missense |
12/13 |
- |
1 |
X-37668898-CCC-ATG |
c.1540_1542delinsATG |
p.P514M |
Missense |
12/13 |
- |
1 |
X-37668898-CCC-GAG |
c.1540_1542delinsGAG |
p.P514E |
Missense |
12/13 |
- |
1 |
X-37668898-CCC-TGG |
c.1540_1542delinsTGG |
p.P514W |
Missense |
12/13 |
- |
1 |
X-37668898-CC-GA |
c.1540_1541delinsGA |
p.P514D |
Missense |
12/13 |
- |
1 |
X-37668898-CC-GG |
c.1540_1541inv |
p.P514G |
Missense |
12/13 |
- |
1 |
X-37668898-CC-GT |
c.1540_1541delinsGT |
p.P514V |
Missense |
12/13 |
- |
1 |
X-37668898-CC-TA |
c.1540_1541delinsTA |
p.P514Y |
Missense |
12/13 |
- |
1 |
X-37668898-CC-TG |
c.1540_1541delinsTG |
p.P514C |
Missense |
12/13 |
- |
1 |
X-37668898-CC-TT |
c.1540_1541delinsTT |
p.P514F |
Missense |
12/13 |
- |
1 |
X-37668898-C-G |
c.1540C>G |
p.P514A |
Missense |
12/13 |
- |
1 |
X-37668898-C-T |
c.1540C>T |
p.P514S |
Missense |
12/13 |
- |
1 |
X-37668899-C-A |
c.1541C>A |
p.P514H |
Missense |
12/13 |
- |
1 |
X-37668899-CC-AA |
c.1541_1542delinsAA |
p.P514Q |
Missense |
12/13 |
- |
1 |
X-37668899-C-G |
c.1541C>G |
p.P514R |
Missense |
12/13 |
- |
1 |
X-37668899-C-T |
c.1541C>T |
p.P514L |
Missense |
12/13 |
- |
1 |
X-37668900-C-A |
c.1542C>A |
p.P514= |
Synonymous |
12/13 |
- |
1 |
X-37668901-AA-CC |
c.1543_1544delinsCC |
p.N515P |
Missense |
12/13 |
- |
1 |
X-37668901-AAC-CAA |
c.1543_1545delinsCAA |
p.N515Q |
Missense |
12/13 |
- |
1 |
X-37668901-AAC-GAG |
c.1543_1545delinsGAG |
p.N515E |
Missense |
12/13 |
- |
1 |
X-37668901-AA-CT |
c.1543_1544delinsCT |
p.N515L |
Missense |
12/13 |
- |
1 |
X-37668901-AAC-TGG |
c.1543_1545delinsTGG |
p.N515W |
Missense |
12/13 |
- |
1 |
X-37668901-AA-GC |
c.1543_1544delinsGC |
p.N515A |
Missense |
12/13 |
- |
1 |
X-37668901-AA-GG |
c.1543_1544delinsGG |
p.N515G |
Missense |
12/13 |
- |
1 |
X-37668901-AA-GT |
c.1543_1544delinsGT |
p.N515V |
Missense |
12/13 |
- |
1 |
X-37668901-AA-TG |
c.1543_1544delinsTG |
p.N515C |
Missense |
12/13 |
- |
1 |
X-37668901-AA-TT |
c.1543_1544inv |
p.N515F |
Missense |
12/13 |
- |
1 |
X-37668901-A-C |
c.1543A>C |
p.N515H |
Missense |
12/13 |
- |
1 |
X-37668901-A-G |
c.1543A>G |
p.N515D |
Missense |
12/13 |
- |
1 |
X-37668901-A-T |
c.1543A>T |
p.N515Y |
Missense |
12/13 |
- |
1 |
X-37668902-A-C |
c.1544A>C |
p.N515T |
Missense |
12/13 |
- |
1 |
X-37668902-AC-GG |
c.1544_1545delinsGG |
p.N515R |
Missense |
12/13 |
- |
1 |
X-37668902-AC-TG |
c.1544_1545delinsTG |
p.N515M |
Missense |
12/13 |
- |
1 |
X-37668902-A-G |
c.1544A>G |
p.N515S |
Missense |
12/13 |
- |
1 |
X-37668902-A-T |
c.1544A>T |
p.N515I |
Missense |
12/13 |
- |
1 |
X-37668903-C-A |
c.1545C>A |
p.N515K |
Missense |
12/13 |
- |
1 |
X-37668903-C-G |
c.1545C>G |
p.N515K |
Missense |
12/13 |
- |
1 |
X-37668904-T-A |
c.1546T>A |
p.W516R |
Missense |
12/13 |
- |
7 |
X-37668904-T-C |
c.1546T>C |
p.W516R |
Missense |
12/13 |
- |
10 |
X-37668904-T-G |
c.1546T>G |
p.W516G |
Missense |
12/13 |
- |
1 |
X-37668904-TG-AA |
c.1546_1547delinsAA |
p.W516K |
Missense |
12/13 |
- |
1 |
X-37668904-TG-AC |
c.1546_1547delinsAC |
p.W516T |
Missense |
12/13 |
- |
1 |
X-37668904-TG-AT |
c.1546_1547delinsAT |
p.W516M |
Missense |
12/13 |
- |
1 |
X-37668904-TG-CA |
c.1546_1547inv |
p.W516Q |
Missense |
12/13 |
- |
1 |
X-37668904-TG-CC |
c.1546_1547delinsCC |
p.W516P |
Missense |
12/13 |
- |
1 |
X-37668904-TG-GA |
c.1546_1547delinsGA |
p.W516E |
Missense |
12/13 |
- |
1 |
X-37668904-TGG-AAC |
c.1546_1548delinsAAC |
p.W516N |
Missense |
12/13 |
- |
1 |
X-37668904-TGG-ATC |
c.1546_1548delinsATC |
p.W516I |
Missense |
12/13 |
- |
1 |
X-37668904-TG-GC |
c.1546_1547delinsGC |
p.W516A |
Missense |
12/13 |
- |
1 |
X-37668904-TGG-CAT |
c.1546_1548delinsCAT |
p.W516H |
Missense |
12/13 |
- |
1 |
X-37668904-TGG-GAC |
c.1546_1548delinsGAC |
p.W516D |
Missense |
12/13 |
- |
1 |
X-37668904-TG-GT |
c.1546_1547delinsGT |
p.W516V |
Missense |
12/13 |
- |
1 |
X-37668905-G-A |
c.1547G>A |
p.W516* |
Nonsense |
12/13 |
- |
1 |
X-37668905-G-C |
c.1547G>C |
p.W516S |
Missense |
12/13 |
- |
1 |
X-37668905-GG-AT |
c.1547_1548delinsAT |
p.W516Y |
Missense |
12/13 |
- |
1 |
X-37668905-GG-TT |
c.1547_1548delinsTT |
p.W516F |
Missense |
12/13 |
- |
1 |
X-37668905-G-T |
c.1547G>T |
p.W516L |
Missense |
12/13 |
- |
1 |
X-37668906-G-A |
c.1548G>A |
p.W516* |
Nonsense |
12/13 |
- |
1 |
X-37668906-G-C |
c.1548G>C |
p.W516C |
Missense |
12/13 |
- |
5 |
X-37668906-G-T |
c.1548G>T |
p.W516C |
Missense |
12/13 |
- |
5 |
X-37668904-TG-T |
c.1549del |
p.D517Ifs*16 |
Frameshift |
12/13 |
- |
1 |
X-37668907-G-A |
c.1549G>A |
p.D517N |
Missense |
12/13 |
- |
1 |
X-37668907-GA-AC |
c.1549_1550delinsAC |
p.D517T |
Missense |
12/13 |
- |
1 |
X-37668907-GA-AG |
c.1549_1550delinsAG |
p.D517S |
Missense |
12/13 |
- |
5 |
X-37668907-GA-AT |
c.1549_1550delinsAT |
p.D517I |
Missense |
12/13 |
- |
1 |
X-37668907-GA-CC |
c.1549_1550delinsCC |
p.D517P |
Missense |
12/13 |
- |
1 |
X-37668907-GA-CG |
c.1549_1550delinsCG |
p.D517R |
Missense |
12/13 |
- |
1 |
X-37668907-GA-CT |
c.1549_1550delinsCT |
p.D517L |
Missense |
12/13 |
- |
1 |
X-37668907-GAT-AAG |
c.1549_1551delinsAAG |
p.D517K |
Missense |
12/13 |
- |
1 |
X-37668907-GAT-ATG |
c.1549_1551delinsATG |
p.D517M |
Missense |
12/13 |
- |
1 |
X-37668907-GAT-CAA |
c.1549_1551delinsCAA |
p.D517Q |
Missense |
12/13 |
- |
1 |
X-37668907-GA-TG |
c.1549_1550delinsTG |
p.D517C |
Missense |
12/13 |
- |
1 |
X-37668907-GA-TT |
c.1549_1550delinsTT |
p.D517F |
Missense |
12/13 |
- |
1 |
X-37668907-GAT-TGG |
c.1549_1551delinsTGG |
p.D517W |
Missense |
12/13 |
- |
1 |
X-37668907-G-C |
c.1549G>C |
p.D517H |
Missense |
12/13 |
- |
1 |
X-37668907-G-T |
c.1549G>T |
p.D517Y |
Missense |
12/13 |
- |
1 |
X-37668908-A-C |
c.1550A>C |
p.D517A |
Missense |
12/13 |
- |
1 |
X-37668908-A-G |
c.1550A>G |
p.D517G |
Missense |
12/13 |
- |
1 |
X-37668908-A-T |
c.1550A>T |
p.D517V |
Missense |
12/13 |
- |
1 |
X-37668909-T-A |
c.1551T>A |
p.D517E |
Missense |
12/13 |
- |
7 |
X-37668909-T-G |
c.1551T>G |
p.D517E |
Missense |
12/13 |
- |
3 |
X-37668910-AA-CC |
c.1552_1553delinsCC |
p.N518P |
Missense |
12/13 |
- |
1 |
X-37668910-AA-CT |
c.1552_1553delinsCT |
p.N518L |
Missense |
12/13 |
- |
1 |
X-37668910-AA-GC |
c.1552_1553delinsGC |
p.N518A |
Missense |
12/13 |
- |
1 |
X-37668910-AA-GG |
c.1552_1553delinsGG |
p.N518G |
Missense |
12/13 |
- |
1 |
X-37668910-AA-GT |
c.1552_1553delinsGT |
p.N518V |
Missense |
12/13 |
- |
1 |
X-37668910-AAT-CAA |
c.1552_1554delinsCAA |
p.N518Q |
Missense |
12/13 |
- |
1 |
X-37668910-AA-TG |
c.1552_1553delinsTG |
p.N518C |
Missense |
12/13 |
- |
1 |
X-37668910-AAT-GAG |
c.1552_1554delinsGAG |
p.N518E |
Missense |
12/13 |
- |
1 |
X-37668910-AA-TT |
c.1552_1553inv |
p.N518F |
Missense |
12/13 |
- |
1 |
X-37668910-AAT-TGG |
c.1552_1554delinsTGG |
p.N518W |
Missense |
12/13 |
- |
1 |
X-37668910-A-C |
c.1552A>C |
p.N518H |
Missense |
12/13 |
- |
1 |
X-37668910-A-G |
c.1552A>G |
p.N518D |
Missense |
12/13 |
- |
1 |
X-37668910-A-T |
c.1552A>T |
p.N518Y |
Missense |
12/13 |
- |
1 |
X-37668911-A-C |
c.1553A>C |
p.N518T |
Missense |
12/13 |
- |
1 |
X-37668911-A-G |
c.1553A>G |
p.N518S |
Missense |
12/13 |
- |
2 |
X-37668911-A-T |
c.1553A>T |
p.N518I |
Missense |
12/13 |
- |
1 |
X-37668911-AT-GG |
c.1553_1554delinsGG |
p.N518R |
Missense |
12/13 |
- |
1 |
X-37668911-AT-TG |
c.1553_1554delinsTG |
p.N518M |
Missense |
12/13 |
- |
1 |
X-37668912-T-A |
c.1554T>A |
p.N518K |
Missense |
12/13 |
- |
1 |
X-37668912-T-G |
c.1554T>G |
p.N518K |
Missense |
12/13 |
- |
1 |
X-37668913-G-A |
c.1555G>A |
p.E519K |
Missense |
12/13 |
- |
1 |
X-37668913-GAA-AAC |
c.1555_1557delinsAAC |
p.E519N |
Missense |
12/13 |
- |
1 |
X-37668913-GAA-ATG |
c.1555_1557delinsATG |
p.E519M |
Missense |
12/13 |
- |
1 |
X-37668913-GA-AC |
c.1555_1556delinsAC |
p.E519T |
Missense |
12/13 |
- |
1 |
X-37668913-GAA-CAT |
c.1555_1557delinsCAT |
p.E519H |
Missense |
12/13 |
- |
1 |
X-37668913-GA-AG |
c.1555_1556delinsAG |
p.E519R |
Missense |
12/13 |
- |
1 |
X-37668913-GA-AT |
c.1555_1556delinsAT |
p.E519I |
Missense |
12/13 |
- |
1 |
X-37668913-GAA-TAT |
c.1555_1557delinsTAT |
p.E519Y |
Missense |
12/13 |
- |
1 |
X-37668913-GAA-TGG |
c.1555_1557delinsTGG |
p.E519W |
Missense |
12/13 |
- |
1 |
X-37668913-GAA-TGT |
c.1555_1557delinsTGT |
p.E519C |
Missense |
12/13 |
- |
1 |
X-37668913-GAA-TTT |
c.1555_1557delinsTTT |
p.E519F |
Missense |
12/13 |
- |
1 |
X-37668913-GA-CC |
c.1555_1556delinsCC |
p.E519P |
Missense |
12/13 |
- |
1 |
X-37668913-GA-CT |
c.1555_1556delinsCT |
p.E519L |
Missense |
12/13 |
- |
1 |
X-37668913-GA-TC |
c.1555_1556inv |
p.E519S |
Missense |
12/13 |
- |
1 |
X-37668913-G-C |
c.1555G>C |
p.E519Q |
Missense |
12/13 |
- |
1 |
X-37668913-G-T |
c.1555G>T |
p.E519* |
Nonsense |
12/13 |
- |
6 |
X-37668914-A-C |
c.1556A>C |
p.E519A |
Missense |
12/13 |
- |
1 |
X-37668914-A-G |
c.1556A>G |
p.E519G |
Missense |
12/13 |
- |
1 |
X-37668914-A-T |
c.1556A>T |
p.E519V |
Missense |
12/13 |
- |
1 |
X-37668913-GA-G |
c.1557del |
p.E519Dfs*14 |
Frameshift |
12/13 |
- |
1 |
X-37668915-A-C |
c.1557A>C |
p.E519D |
Missense |
12/13 |
- |
1 |
X-37668915-A-T |
c.1557A>T |
p.E519D |
Missense |
12/13 |
- |
1 |
X-37668916-T-A |
c.1558T>A |
p.F520I |
Missense |
12/13 |
- |
1 |
X-37668916-T-C |
c.1558T>C |
p.F520L |
Missense |
12/13 |
- |
1 |
X-37668916-T-G |
c.1558T>G |
p.F520V |
Missense |
12/13 |
- |
1 |
X-37668916-TT-AA |
c.1558_1559inv |
p.F520N |
Missense |
12/13 |
- |
1 |
X-37668916-TT-AC |
c.1558_1559delinsAC |
p.F520T |
Missense |
12/13 |
- |
1 |
X-37668916-TT-CA |
c.1558_1559delinsCA |
p.F520H |
Missense |
12/13 |
- |
1 |
X-37668916-TTC-AAG |
c.1558_1560delinsAAG |
p.F520K |
Missense |
12/13 |
- |
1 |
X-37668916-TTC-ATG |
c.1558_1560delinsATG |
p.F520M |
Missense |
12/13 |
- |
1 |
X-37668916-TT-CC |
c.1558_1559delinsCC |
p.F520P |
Missense |
12/13 |
- |
1 |
X-37668916-TTC-CAA |
c.1558_1560delinsCAA |
p.F520Q |
Missense |
12/13 |
- |
1 |
X-37668916-TT-CG |
c.1558_1559delinsCG |
p.F520R |
Missense |
12/13 |
- |
1 |
X-37668916-TTC-GAG |
c.1558_1560delinsGAG |
p.F520E |
Missense |
12/13 |
- |
1 |
X-37668916-TT-GA |
c.1558_1559delinsGA |
p.F520D |
Missense |
12/13 |
- |
1 |
X-37668916-TT-GC |
c.1558_1559delinsGC |
p.F520A |
Missense |
12/13 |
- |
1 |
X-37668916-TT-GG |
c.1558_1559delinsGG |
p.F520G |
Missense |
12/13 |
- |
1 |
X-37668918-C-A |
c.1560C>A |
p.F520L |
Missense |
12/13 |
- |
1 |
X-37668918-C-G |
c.1560C>G |
p.F520L |
Missense |
12/13 |
- |
1 |
X-37668917-T-A |
c.1559T>A |
p.F520Y |
Missense |
12/13 |
- |
1 |
X-37668917-T-C |
c.1559T>C |
p.F520S |
Missense |
12/13 |
- |
1 |
X-37668917-TC-GG |
c.1559_1560delinsGG |
p.F520W |
Missense |
12/13 |
- |
1 |
X-37668917-T-G |
c.1559T>G |
p.F520C |
Missense |
12/13 |
- |
1 |
X-37668919-AA-CC |
c.1561_1562delinsCC |
p.K521P |
Missense |
12/13 |
- |
1 |
X-37668919-AA-CT |
c.1561_1562delinsCT |
p.K521L |
Missense |
12/13 |
- |
1 |
X-37668919-AA-GC |
c.1561_1562delinsGC |
p.K521A |
Missense |
12/13 |
- |
1 |
X-37668919-AAG-CAT |
c.1561_1563delinsCAT |
p.K521H |
Missense |
12/13 |
- |
1 |
X-37668919-AA-GG |
c.1561_1562delinsGG |
p.K521G |
Missense |
12/13 |
- |
1 |
X-37668919-AAG-GAC |
c.1561_1563delinsGAC |
p.K521D |
Missense |
12/13 |
- |
1 |
X-37668919-AA-GT |
c.1561_1562delinsGT |
p.K521V |
Missense |
12/13 |
- |
1 |
X-37668919-AAG-TAT |
c.1561_1563delinsTAT |
p.K521Y |
Missense |
12/13 |
- |
1 |
X-37668919-AAG-TGT |
c.1561_1563delinsTGT |
p.K521C |
Missense |
12/13 |
- |
1 |
X-37668919-AAG-TTT |
c.1561_1563delinsTTT |
p.K521F |
Missense |
12/13 |
- |
1 |
X-37668919-AA-TG |
c.1561_1562delinsTG |
p.K521W |
Missense |
12/13 |
- |
1 |
X-37668919-A-C |
c.1561A>C |
p.K521Q |
Missense |
12/13 |
- |
1 |
X-37668919-A-G |
c.1561A>G |
p.K521E |
Missense |
12/13 |
- |
1 |
X-37668919-A-T |
c.1561A>T |
p.K521* |
Nonsense |
12/13 |
- |
1 |
X-37668920-A-C |
c.1562A>C |
p.K521T |
Missense |
12/13 |
- |
1 |
X-37668920-A-G |
c.1562A>G |
p.K521R |
Missense |
12/13 |
- |
1 |
X-37668920-AG-GC |
c.1562_1563delinsGC |
p.K521S |
Missense |
12/13 |
- |
1 |
X-37668920-AG-TC |
c.1562_1563delinsTC |
p.K521I |
Missense |
12/13 |
- |
1 |
X-37668920-A-T |
c.1562A>T |
p.K521M |
Missense |
12/13 |
- |
1 |
X-37668921-G-C |
c.1563G>C |
p.K521N |
Missense |
12/13 |
- |
1 |
X-37668921-G-T |
c.1563G>T |
p.K521N |
Missense |
12/13 |
- |
1 |
X-37668922-A-C |
c.1564A>C |
p.T522P |
Missense |
12/13 |
- |
1 |
X-37668922-ACA-CAT |
c.1564_1566delinsCAT |
p.T522H |
Missense |
12/13 |
- |
1 |
X-37668922-ACA-GAC |
c.1564_1566delinsGAC |
p.T522D |
Missense |
12/13 |
- |
1 |
X-37668922-ACA-TAT |
c.1564_1566delinsTAT |
p.T522Y |
Missense |
12/13 |
- |
1 |
X-37668922-ACA-TGG |
c.1564_1566delinsTGG |
p.T522W |
Missense |
12/13 |
- |
1 |
X-37668922-ACA-TGT |
c.1564_1566inv |
p.T522C |
Missense |
12/13 |
- |
1 |
X-37668922-ACA-TTT |
c.1564_1566delinsTTT |
p.T522F |
Missense |
12/13 |
- |
1 |
X-37668922-AC-CA |
c.1564_1565delinsCA |
p.T522Q |
Missense |
12/13 |
- |
1 |
X-37668922-AC-CT |
c.1564_1565delinsCT |
p.T522L |
Missense |
12/13 |
- |
1 |
X-37668922-AC-GA |
c.1564_1565delinsGA |
p.T522E |
Missense |
12/13 |
- |
1 |
X-37668922-AC-GG |
c.1564_1565delinsGG |
p.T522G |
Missense |
12/13 |
- |
1 |
X-37668922-AC-GT |
c.1564_1565inv |
p.T522V |
Missense |
12/13 |
- |
1 |
X-37668922-A-G |
c.1564A>G |
p.T522A |
Missense |
12/13 |
- |
1 |
X-37668922-A-T |
c.1564A>T |
p.T522S |
Missense |
12/13 |
- |
1 |
X-37668923-AC-A |
c.1565del |
p.T522Kfs*11 |
Frameshift |
12/13 |
- |
2 |
X-37668923-C-A |
c.1565C>A |
p.T522K |
Missense |
12/13 |
- |
1 |
X-37668923-CA-AC |
c.1565_1566delinsAC |
p.T522N |
Missense |
12/13 |
- |
1 |
X-37668923-CA-TG |
c.1565_1566inv |
p.T522M |
Missense |
12/13 |
- |
1 |
X-37668923-C-G |
c.1565C>G |
p.T522R |
Missense |
12/13 |
- |
1 |
X-37668923-C-T |
c.1565C>T |
p.T522I |
Missense |
12/13 |
- |
1 |
X-37668925-A-C |
c.1567A>C |
p.I523L |
Missense |
12/13 |
- |
1 |
X-37668925-A-G |
c.1567A>G |
p.I523V |
Missense |
12/13 |
- |
1 |
X-37668925-A-T |
c.1567A>T |
p.I523F |
Missense |
12/13 |
- |
1 |
X-37668925-AT-CA |
c.1567_1568delinsCA |
p.I523H |
Missense |
12/13 |
- |
1 |
X-37668925-AT-CC |
c.1567_1568delinsCC |
p.I523P |
Missense |
12/13 |
- |
1 |
X-37668925-AT-GA |
c.1567_1568delinsGA |
p.I523D |
Missense |
12/13 |
- |
1 |
X-37668925-AT-GC |
c.1567_1568delinsGC |
p.I523A |
Missense |
12/13 |
- |
1 |
X-37668925-AT-GG |
c.1567_1568delinsGG |
p.I523G |
Missense |
12/13 |
- |
1 |
X-37668925-AT-TA |
c.1567_1568delinsTA |
p.I523Y |
Missense |
12/13 |
- |
1 |
X-37668925-ATT-CAA |
c.1567_1569delinsCAA |
p.I523Q |
Missense |
12/13 |
- |
1 |
X-37668925-AT-TG |
c.1567_1568delinsTG |
p.I523C |
Missense |
12/13 |
- |
1 |
X-37668925-ATT-GAG |
c.1567_1569delinsGAG |
p.I523E |
Missense |
12/13 |
- |
1 |
X-37668925-ATT-TGG |
c.1567_1569delinsTGG |
p.I523W |
Missense |
12/13 |
- |
1 |
X-37668926-T-A |
c.1568T>A |
p.I523N |
Missense |
12/13 |
- |
1 |
X-37668926-T-C |
c.1568T>C |
p.I523T |
Missense |
12/13 |
- |
1 |
X-37668926-T-G |
c.1568T>G |
p.I523S |
Missense |
12/13 |
- |
1 |
X-37668926-TT-AG |
c.1568_1569delinsAG |
p.I523K |
Missense |
12/13 |
- |
1 |
X-37668926-TT-GG |
c.1568_1569delinsGG |
p.I523R |
Missense |
12/13 |
- |
1 |
X-37668927-T-G |
c.1569T>G |
p.I523M |
Missense |
12/13 |
- |
1 |
X-37668928-G-A |
c.1570G>A |
p.A524T |
Missense |
12/13 |
- |
1 |
X-37668928-G-C |
c.1570G>C |
p.A524P |
Missense |
12/13 |
- |
1 |
X-37668928-GC-AA |
c.1570_1571delinsAA |
p.A524K |
Missense |
12/13 |
- |
1 |
X-37668928-GCA-AAC |
c.1570_1572delinsAAC |
p.A524N |
Missense |
12/13 |
- |
1 |
X-37668928-GCA-ATG |
c.1570_1572delinsATG |
p.A524M |
Missense |
12/13 |
- |
1 |
X-37668928-GCA-CAT |
c.1570_1572delinsCAT |
p.A524H |
Missense |
12/13 |
- |
1 |
X-37668928-GC-AG |
c.1570_1571delinsAG |
p.A524R |
Missense |
12/13 |
- |
1 |
X-37668928-GC-AT |
c.1570_1571delinsAT |
p.A524I |
Missense |
12/13 |
- |
1 |
X-37668928-GCA-TAT |
c.1570_1572delinsTAT |
p.A524Y |
Missense |
12/13 |
- |
1 |
X-37668928-GCA-TGG |
c.1570_1572delinsTGG |
p.A524W |
Missense |
12/13 |
- |
1 |
X-37668928-GCA-TGT |
c.1570_1572delinsTGT |
p.A524C |
Missense |
12/13 |
- |
1 |
X-37668928-GCA-TTT |
c.1570_1572delinsTTT |
p.A524F |
Missense |
12/13 |
- |
1 |
X-37668928-GC-CA |
c.1570_1571delinsCA |
p.A524Q |
Missense |
12/13 |
- |
1 |
X-37668928-GC-CT |
c.1570_1571delinsCT |
p.A524L |
Missense |
12/13 |
- |
1 |
X-37668928-GC-TA |
c.1570_1571delinsTA |
p.A524* |
Nonsense |
12/13 |
- |
1 |
X-37668928-G-T |
c.1570G>T |
p.A524S |
Missense |
12/13 |
- |
1 |
X-37668929-C-A |
c.1571C>A |
p.A524E |
Missense |
12/13 |
- |
1 |
X-37668929-CA-AC |
c.1571_1572delinsAC |
p.A524D |
Missense |
12/13 |
- |
1 |
X-37668929-C-G |
c.1571C>G |
p.A524G |
Missense |
12/13 |
- |
1 |
X-37668929-C-T |
c.1571C>T |
p.A524V |
Missense |
12/13 |
- |
3 |
X-37668931-A-G |
c.1573A>G |
p.S525G |
Missense |
12/13 |
- |
1 |
X-37668931-AG-CA |
c.1573_1574delinsCA |
p.S525H |
Missense |
12/13 |
- |
1 |
X-37668931-AG-CC |
c.1573_1574delinsCC |
p.S525P |
Missense |
12/13 |
- |
1 |
X-37668931-AG-CT |
c.1573_1574inv |
p.S525L |
Missense |
12/13 |
- |
1 |
X-37668931-AG-GA |
c.1573_1574delinsGA |
p.S525D |
Missense |
12/13 |
- |
1 |
X-37668931-AG-GC |
c.1573_1574delinsGC |
p.S525A |
Missense |
12/13 |
- |
2 |
X-37668931-AG-GT |
c.1573_1574delinsGT |
p.S525V |
Missense |
12/13 |
- |
1 |
X-37668931-AG-TA |
c.1573_1574delinsTA |
p.S525Y |
Missense |
12/13 |
- |
1 |
X-37668931-AGT-CAA |
c.1573_1575delinsCAA |
p.S525Q |
Missense |
12/13 |
- |
1 |
X-37668931-AGT-GAG |
c.1573_1575delinsGAG |
p.S525E |
Missense |
12/13 |
- |
1 |
X-37668931-AG-TT |
c.1573_1574delinsTT |
p.S525F |
Missense |
12/13 |
- |
1 |
X-37668931-AGT-TGG |
c.1573_1575delinsTGG |
p.S525W |
Missense |
12/13 |
- |
1 |
X-37668931-A-T |
c.1573A>T |
p.S525C |
Missense |
12/13 |
- |
3 |
X-37668932-G-A |
c.1574G>A |
p.S525N |
Missense |
12/13 |
- |
1 |
X-37668932-G-C |
c.1574G>C |
p.S525T |
Missense |
12/13 |
- |
1 |
X-37668932-G-T |
c.1574G>T |
p.S525I |
Missense |
12/13 |
- |
1 |
X-37668932-GT-AG |
c.1574_1575delinsAG |
p.S525K |
Missense |
12/13 |
- |
1 |
X-37668932-GT-TG |
c.1574_1575delinsTG |
p.S525M |
Missense |
12/13 |
- |
1 |
X-37668931-A-C |
c.1573A>C |
p.S525R |
Missense |
12/13 |
- |
1 |
X-37668933-T-A |
c.1575T>A |
p.S525R |
Missense |
12/13 |
- |
1 |
X-37668933-T-G |
c.1575T>G |
p.S525R |
Missense |
12/13 |
- |
1 |
X-37668934-C-A |
c.1576C>A |
p.Q526K |
Missense |
12/13 |
- |
1 |
X-37668934-CAA-AAC |
c.1576_1578delinsAAC |
p.Q526N |
Missense |
12/13 |
- |
1 |
X-37668934-CAA-ATG |
c.1576_1578delinsATG |
p.Q526M |
Missense |
12/13 |
- |
1 |
X-37668934-CA-AC |
c.1576_1577delinsAC |
p.Q526T |
Missense |
12/13 |
- |
1 |
X-37668934-CAA-GAC |
c.1576_1578delinsGAC |
p.Q526D |
Missense |
12/13 |
- |
1 |
X-37668934-CA-AT |
c.1576_1577delinsAT |
p.Q526I |
Missense |
12/13 |
- |
1 |
X-37668934-CAA-TAT |
c.1576_1578delinsTAT |
p.Q526Y |
Missense |
12/13 |
- |
1 |
X-37668934-CAA-TGG |
c.1576_1578delinsTGG |
p.Q526W |
Missense |
12/13 |
- |
1 |
X-37668934-CAA-TGT |
c.1576_1578delinsTGT |
p.Q526C |
Missense |
12/13 |
- |
1 |
X-37668934-CAA-TTT |
c.1576_1578delinsTTT |
p.Q526F |
Missense |
12/13 |
- |
1 |
X-37668934-CA-GC |
c.1576_1577delinsGC |
p.Q526A |
Missense |
12/13 |
- |
1 |
X-37668934-CA-GG |
c.1576_1577delinsGG |
p.Q526G |
Missense |
12/13 |
- |
1 |
X-37668934-CA-GT |
c.1576_1577delinsGT |
p.Q526V |
Missense |
12/13 |
- |
1 |
X-37668934-CA-TC |
c.1576_1577delinsTC |
p.Q526S |
Missense |
12/13 |
- |
1 |
X-37668934-C-G |
c.1576C>G |
p.Q526E |
Missense |
12/13 |
- |
1 |
X-37668935-A-C |
c.1577A>C |
p.Q526P |
Missense |
12/13 |
- |
1 |
X-37668935-A-G |
c.1577A>G |
p.Q526R |
Missense |
12/13 |
- |
1 |
X-37668935-A-T |
c.1577A>T |
p.Q526L |
Missense |
12/13 |
- |
1 |
X-37668934-CA-C |
c.1578del |
p.Q526Hfs*7 |
Frameshift |
12/13 |
- |
1 |
X-37668936-A-C |
c.1578A>C |
p.Q526H |
Missense |
12/13 |
- |
1 |
X-37668936-A-T |
c.1578A>T |
p.Q526H |
Missense |
12/13 |
- |
1 |
X-37668936-A-AC |
c.1579dup |
p.H527Pfs*3 |
Frameshift |
12/13 |
- |
1 |
X-37668937-C-A |
c.1579C>A |
p.H527N |
Missense |
12/13 |
- |
1 |
X-37668937-CA-AC |
c.1579_1580delinsAC |
p.H527T |
Missense |
12/13 |
- |
1 |
X-37668937-CA-AG |
c.1579_1580delinsAG |
p.H527S |
Missense |
12/13 |
- |
1 |
X-37668937-CA-AT |
c.1579_1580delinsAT |
p.H527I |
Missense |
12/13 |
- |
1 |
X-37668937-CAC-AAG |
c.1579_1581delinsAAG |
p.H527K |
Missense |
12/13 |
- |
1 |
X-37668937-CAC-ATG |
c.1579_1581delinsATG |
p.H527M |
Missense |
12/13 |
- |
1 |
X-37668937-CAC-GAG |
c.1579_1581delinsGAG |
p.H527E |
Missense |
12/13 |
- |
1 |
X-37668937-CAC-TGG |
c.1579_1581delinsTGG |
p.H527W |
Missense |
12/13 |
- |
1 |
X-37668937-CA-GC |
c.1579_1580delinsGC |
p.H527A |
Missense |
12/13 |
- |
1 |
X-37668937-CA-GG |
c.1579_1580delinsGG |
p.H527G |
Missense |
12/13 |
- |
1 |
X-37668937-CA-GT |
c.1579_1580delinsGT |
p.H527V |
Missense |
12/13 |
- |
1 |
X-37668937-CA-TG |
c.1579_1580inv |
p.H527C |
Missense |
12/13 |
- |
1 |
X-37668937-CA-TT |
c.1579_1580delinsTT |
p.H527F |
Missense |
12/13 |
- |
1 |
X-37668937-C-G |
c.1579C>G |
p.H527D |
Missense |
12/13 |
- |
1 |
X-37668937-C-T |
c.1579C>T |
p.H527Y |
Missense |
12/13 |
- |
1 |
X-37668938-A-C |
c.1580A>C |
p.H527P |
Missense |
12/13 |
- |
1 |
X-37668938-A-G |
c.1580A>G |
p.H527R |
Missense |
12/13 |
- |
1 |
X-37668938-A-T |
c.1580A>T |
p.H527L |
Missense |
12/13 |
- |
1 |
X-37668939-C-A |
c.1581C>A |
p.H527Q |
Missense |
12/13 |
- |
1 |
X-37668939-C-G |
c.1581C>G |
p.H527Q |
Missense |
12/13 |
- |
1 |
X-37668940-C-A |
c.1582C>A |
p.P528T |
Missense |
12/13 |
- |
1 |
X-37668940-CC-AA |
c.1582_1583delinsAA |
p.P528N |
Missense |
12/13 |
- |
1 |
X-37668940-CC-AT |
c.1582_1583delinsAT |
p.P528I |
Missense |
12/13 |
- |
1 |
X-37668940-CC-GA |
c.1582_1583delinsGA |
p.P528D |
Missense |
12/13 |
- |
1 |
X-37668940-CC-GG |
c.1582_1583inv |
p.P528G |
Missense |
12/13 |
- |
1 |
X-37668940-CC-GT |
c.1582_1583delinsGT |
p.P528V |
Missense |
12/13 |
- |
1 |
X-37668940-CC-TA |
c.1582_1583delinsTA |
p.P528Y |
Missense |
12/13 |
- |
1 |
X-37668940-CCT-AAG |
c.1582_1584delinsAAG |
p.P528K |
Missense |
12/13 |
- |
1 |
X-37668940-CCT-ATG |
c.1582_1584delinsATG |
p.P528M |
Missense |
12/13 |
- |
1 |
X-37668940-CC-TG |
c.1582_1583delinsTG |
p.P528C |
Missense |
12/13 |
- |
1 |
X-37668940-CCT-GAG |
c.1582_1584delinsGAG |
p.P528E |
Missense |
12/13 |
- |
1 |
X-37668940-CC-TT |
c.1582_1583delinsTT |
p.P528F |
Missense |
12/13 |
- |
1 |
X-37668940-CCT-TGG |
c.1582_1584delinsTGG |
p.P528W |
Missense |
12/13 |
- |
1 |
X-37668940-C-G |
c.1582C>G |
p.P528A |
Missense |
12/13 |
- |
1 |
X-37668940-C-T |
c.1582C>T |
p.P528S |
Missense |
12/13 |
- |
1 |
X-37668941-C-A |
c.1583C>A |
p.P528H |
Missense |
12/13 |
- |
1 |
X-37668941-C-G |
c.1583C>G |
p.P528R |
Missense |
12/13 |
- |
5 |
X-37668941-C-T |
c.1583C>T |
p.P528L |
Missense |
12/13 |
- |
1 |
X-37668941-CT-AA |
c.1583_1584delinsAA |
p.P528Q |
Missense |
12/13 |
- |
1 |
X-37668941-CTAAGTAAGGAG-C |
c.1585_1586+9del |
- |
SpliceDonorDeletion |
12/13 |
12/12 |
1 |
X-37668943-AA-CC |
c.1585_1586delinsCC |
p.N529P |
Missense |
12/13 |
- |
1 |
X-37668943-AA-CT |
c.1585_1586delinsCT |
p.N529L |
Missense |
12/13 |
- |
1 |
X-37668943-AA-GC |
c.1585_1586delinsGC |
p.N529A |
Missense |
12/13 |
- |
1 |
X-37668943-AA-GG |
c.1585_1586delinsGG |
p.N529G |
Missense |
12/13 |
- |
1 |
X-37668943-AA-GT |
c.1585_1586delinsGT |
p.N529V |
Missense |
12/13 |
- |
1 |
X-37668943-AA-TG |
c.1585_1586delinsTG |
p.N529C |
Missense |
12/13 |
- |
1 |
X-37668943-AA-TT |
c.1585_1586inv |
p.N529F |
Missense |
12/13 |
- |
1 |
X-37668943-A-C |
c.1585A>C |
p.N529H |
Missense |
12/13 |
- |
1 |
X-37668943-A-G |
c.1585A>G |
p.N529D |
Missense |
12/13 |
- |
1 |
X-37668943-A-T |
c.1585A>T |
p.N529Y |
Missense |
12/13 |
- |
1 |
X-37668942-T-TA |
c.1586dup |
p.N529Kfs*12 |
SpliceDonorInsertion |
- |
- |
1 |
X-37668944-A-C |
c.1586A>C |
p.N529T |
Missense |
12/13 |
- |
1 |
X-37668944-A-G |
c.1586A>G |
p.N529S |
Missense |
12/13 |
- |
1 |
X-37668944-A-T |
c.1586A>T |
p.N529I |
Missense |
12/13 |
- |
1 |
X-37668945-G-A |
c.1586+1G>A |
- |
IntronicSNV |
- |
12/12 |
1 |
X-37668945-G-C |
c.1586+1G>C |
- |
IntronicSNV |
- |
12/12 |
1 |
X-37668947-A-T |
c.1586+3A>T |
- |
IntronicSNV |
- |
12/12 |
1 |
X-37669694-A-G |
c.1587-350A>G |
- |
IntronicSNV |
- |
12/12 |
1 |
X-37669968-C-T |
c.1587-76C>T |
- |
IntronicSNV |
- |
12/12 |
1 |
X-37670044-T-A |
c.1587T>A |
p.N529K |
Missense |
13/13 |
- |
1 |
X-37670044-T-G |
c.1587T>G |
p.N529K |
Missense |
13/13 |
- |
1 |
X-37670045-A-C |
c.1588A>C |
p.T530P |
Missense |
13/13 |
- |
1 |
X-37670045-AC-CA |
c.1588_1589delinsCA |
p.T530H |
Missense |
13/13 |
- |
1 |
X-37670045-ACC-CAA |
c.1588_1590delinsCAA |
p.T530Q |
Missense |
13/13 |
- |
1 |
X-37670045-ACC-GAG |
c.1588_1590delinsGAG |
p.T530E |
Missense |
13/13 |
- |
1 |
X-37670045-AC-CT |
c.1588_1589delinsCT |
p.T530L |
Missense |
13/13 |
- |
1 |
X-37670045-ACC-TGG |
c.1588_1590delinsTGG |
p.T530W |
Missense |
13/13 |
- |
1 |
X-37670045-AC-GA |
c.1588_1589delinsGA |
p.T530D |
Missense |
13/13 |
- |
1 |
X-37670045-AC-GG |
c.1588_1589delinsGG |
p.T530G |
Missense |
13/13 |
- |
1 |
X-37670045-AC-GT |
c.1588_1589inv |
p.T530V |
Missense |
13/13 |
- |
1 |
X-37670045-AC-TA |
c.1588_1589delinsTA |
p.T530Y |
Missense |
13/13 |
- |
1 |
X-37670045-AC-TG |
c.1588_1589delinsTG |
p.T530C |
Missense |
13/13 |
- |
1 |
X-37670045-AC-TT |
c.1588_1589delinsTT |
p.T530F |
Missense |
13/13 |
- |
1 |
X-37670045-A-G |
c.1588A>G |
p.T530A |
Missense |
13/13 |
- |
1 |
X-37670045-A-T |
c.1588A>T |
p.T530S |
Missense |
13/13 |
- |
1 |
X-37670046-C-A |
c.1589C>A |
p.T530N |
Missense |
13/13 |
- |
1 |
X-37670046-CC-AG |
c.1589_1590delinsAG |
p.T530K |
Missense |
13/13 |
- |
1 |
X-37670046-CC-GG |
c.1589_1590inv |
p.T530R |
Missense |
13/13 |
- |
1 |
X-37670046-CC-TG |
c.1589_1590delinsTG |
p.T530M |
Missense |
13/13 |
- |
1 |
X-37670046-C-G |
c.1589C>G |
p.T530S |
Missense |
13/13 |
- |
1 |
X-37670046-C-T |
c.1589C>T |
p.T530I |
Missense |
13/13 |
- |
1 |
X-37670048-A-G |
c.1591A>G |
p.R531G |
Missense |
13/13 |
- |
1 |
X-37670048-AGA-CAT |
c.1591_1593delinsCAT |
p.R531H |
Missense |
13/13 |
- |
1 |
X-37670048-AGA-GAC |
c.1591_1593delinsGAC |
p.R531D |
Missense |
13/13 |
- |
1 |
X-37670048-AGA-TAT |
c.1591_1593delinsTAT |
p.R531Y |
Missense |
13/13 |
- |
1 |
X-37670048-AGA-TGG |
c.1591_1593delinsTGG |
p.R531W |
Missense |
13/13 |
- |
1 |
X-37670048-AGA-TGT |
c.1591_1593delinsTGT |
p.R531C |
Missense |
13/13 |
- |
1 |
X-37670048-AGA-TTT |
c.1591_1593delinsTTT |
p.R531F |
Missense |
13/13 |
- |
1 |
X-37670048-AG-CA |
c.1591_1592delinsCA |
p.R531Q |
Missense |
13/13 |
- |
1 |
X-37670048-AG-CC |
c.1591_1592delinsCC |
p.R531P |
Missense |
13/13 |
- |
1 |
X-37670048-AG-CT |
c.1591_1592inv |
p.R531L |
Missense |
13/13 |
- |
1 |
X-37670048-AG-GA |
c.1591_1592delinsGA |
p.R531E |
Missense |
13/13 |
- |
1 |
X-37670048-AG-GC |
c.1591_1592delinsGC |
p.R531A |
Missense |
13/13 |
- |
1 |
X-37670048-AG-GT |
c.1591_1592delinsGT |
p.R531V |
Missense |
13/13 |
- |
1 |
X-37670049-G-A |
c.1592G>A |
p.R531K |
Missense |
13/13 |
- |
1 |
X-37670049-GA-AC |
c.1592_1593delinsAC |
p.R531N |
Missense |
13/13 |
- |
1 |
X-37670049-GA-TG |
c.1592_1593delinsTG |
p.R531M |
Missense |
13/13 |
- |
1 |
X-37670049-G-C |
c.1592G>C |
p.R531T |
Missense |
13/13 |
- |
1 |
X-37670049-G-T |
c.1592G>T |
p.R531I |
Missense |
13/13 |
- |
2 |
X-37670050-A-C |
c.1593A>C |
p.R531S |
Missense |
13/13 |
- |
1 |
X-37670050-A-T |
c.1593A>T |
p.R531S |
Missense |
13/13 |
- |
1 |
X-37670051-A-C |
c.1594A>C |
p.I532L |
Missense |
13/13 |
- |
1 |
X-37670051-A-G |
c.1594A>G |
p.I532V |
Missense |
13/13 |
- |
1 |
X-37670051-A-T |
c.1594A>T |
p.I532L |
Missense |
13/13 |
- |
1 |
X-37670051-ATA-CAT |
c.1594_1596delinsCAT |
p.I532H |
Missense |
13/13 |
- |
1 |
X-37670051-ATA-GAC |
c.1594_1596delinsGAC |
p.I532D |
Missense |
13/13 |
- |
1 |
X-37670051-ATA-TAT |
c.1594_1596inv |
p.I532Y |
Missense |
13/13 |
- |
1 |
X-37670051-ATA-TGG |
c.1594_1596delinsTGG |
p.I532W |
Missense |
13/13 |
- |
1 |
X-37670051-ATA-TGT |
c.1594_1596delinsTGT |
p.I532C |
Missense |
13/13 |
- |
1 |
X-37670051-ATA-TTT |
c.1594_1596delinsTTT |
p.I532F |
Missense |
13/13 |
- |
1 |
X-37670051-AT-CA |
c.1594_1595delinsCA |
p.I532Q |
Missense |
13/13 |
- |
1 |
X-37670051-AT-CC |
c.1594_1595delinsCC |
p.I532P |
Missense |
13/13 |
- |
1 |
X-37670051-AT-GA |
c.1594_1595delinsGA |
p.I532E |
Missense |
13/13 |
- |
1 |
X-37670051-AT-GC |
c.1594_1595delinsGC |
p.I532A |
Missense |
13/13 |
- |
1 |
X-37670051-AT-GG |
c.1594_1595delinsGG |
p.I532G |
Missense |
13/13 |
- |
1 |
X-37670052-T-A |
c.1595T>A |
p.I532K |
Missense |
13/13 |
- |
1 |
X-37670052-TA-AC |
c.1595_1596delinsAC |
p.I532N |
Missense |
13/13 |
- |
1 |
X-37670052-TA-GC |
c.1595_1596delinsGC |
p.I532S |
Missense |
13/13 |
- |
1 |
X-37670052-T-C |
c.1595T>C |
p.I532T |
Missense |
13/13 |
- |
1 |
X-37670052-T-G |
c.1595T>G |
p.I532R |
Missense |
13/13 |
- |
1 |
X-37670053-A-G |
c.1596A>G |
p.I532M |
Missense |
13/13 |
- |
1 |
X-37670054-G-A |
c.1597G>A |
p.G533R |
Missense |
13/13 |
- |
1 |
X-37670054-G-C |
c.1597G>C |
p.G533R |
Missense |
13/13 |
- |
1 |
X-37670054-GG-AA |
c.1597_1598delinsAA |
p.G533K |
Missense |
13/13 |
- |
1 |
X-37670054-GGA-AAC |
c.1597_1599delinsAAC |
p.G533N |
Missense |
13/13 |
- |
1 |
X-37670054-GGA-AGC |
c.1597_1599delinsAGC |
p.G533S |
Missense |
13/13 |
- |
1 |
X-37670054-GGA-ATG |
c.1597_1599delinsATG |
p.G533M |
Missense |
13/13 |
- |
1 |
X-37670054-GG-AC |
c.1597_1598delinsAC |
p.G533T |
Missense |
13/13 |
- |
1 |
X-37670054-GGA-CAT |
c.1597_1599delinsCAT |
p.G533H |
Missense |
13/13 |
- |
1 |
X-37670054-GG-AT |
c.1597_1598delinsAT |
p.G533I |
Missense |
13/13 |
- |
1 |
X-37670054-GGA-TAT |
c.1597_1599delinsTAT |
p.G533Y |
Missense |
13/13 |
- |
1 |
X-37670054-GGA-TGG |
c.1597_1599delinsTGG |
p.G533W |
Missense |
13/13 |
- |
1 |
X-37670054-GGA-TGT |
c.1597_1599delinsTGT |
p.G533C |
Missense |
13/13 |
- |
1 |
X-37670054-GGA-TTT |
c.1597_1599delinsTTT |
p.G533F |
Missense |
13/13 |
- |
1 |
X-37670054-GG-CA |
c.1597_1598delinsCA |
p.G533Q |
Missense |
13/13 |
- |
1 |
X-37670054-GG-CC |
c.1597_1598inv |
p.G533P |
Missense |
13/13 |
- |
1 |
X-37670054-GG-CT |
c.1597_1598delinsCT |
p.G533L |
Missense |
13/13 |
- |
1 |
X-37670052-TAGG-T |
c.1598_1600del |
p.G533del |
InFrameDeletion |
13/13 |
- |
2 |
X-37670055-G-A |
c.1598G>A |
p.G533E |
Missense |
13/13 |
- |
5 |
X-37670055-GA-AC |
c.1598_1599delinsAC |
p.G533D |
Missense |
13/13 |
- |
1 |
X-37670055-G-C |
c.1598G>C |
p.G533A |
Missense |
13/13 |
- |
1 |
X-37670055-G-T |
c.1598G>T |
p.G533V |
Missense |
13/13 |
- |
1 |
X-37670056-A-G |
c.1599A>G |
p.G533= |
Synonymous |
13/13 |
- |
1 |
X-37670056-GAGTT-G |
c.1599_1602del |
p.V534Sfs*12 |
Frameshift |
13/13 |
- |
1 |
X-37670053-AGGAGTTTTCCTCTGT-A |
c.1600_1614del |
p.V534_G538del |
InFrameDeletion |
13/13 |
- |
1 |
X-37670057-G-A |
c.1600G>A |
p.V534I |
Missense |
13/13 |
- |
2 |
X-37670057-G-C |
c.1600G>C |
p.V534L |
Missense |
13/13 |
- |
1 |
X-37670057-G-T |
c.1600G>T |
p.V534F |
Missense |
13/13 |
- |
1 |
X-37670057-GT-AA |
c.1600_1601delinsAA |
p.V534N |
Missense |
13/13 |
- |
1 |
X-37670057-GT-AC |
c.1600_1601inv |
p.V534T |
Missense |
13/13 |
- |
1 |
X-37670057-GT-AG |
c.1600_1601delinsAG |
p.V534S |
Missense |
13/13 |
- |
1 |
X-37670057-GT-CA |
c.1600_1601delinsCA |
p.V534H |
Missense |
13/13 |
- |
1 |
X-37670057-GT-CC |
c.1600_1601delinsCC |
p.V534P |
Missense |
13/13 |
- |
1 |
X-37670057-GT-CG |
c.1600_1601delinsCG |
p.V534R |
Missense |
13/13 |
- |
1 |
X-37670057-GT-TA |
c.1600_1601delinsTA |
p.V534Y |
Missense |
13/13 |
- |
1 |
X-37670057-GTT-AAG |
c.1600_1602delinsAAG |
p.V534K |
Missense |
13/13 |
- |
1 |
X-37670057-GTT-ATG |
c.1600_1602delinsATG |
p.V534M |
Missense |
13/13 |
- |
1 |
X-37670057-GTT-CAA |
c.1600_1602delinsCAA |
p.V534Q |
Missense |
13/13 |
- |
1 |
X-37670057-GT-TG |
c.1600_1601delinsTG |
p.V534C |
Missense |
13/13 |
- |
1 |
X-37670057-GTT-TGG |
c.1600_1602delinsTGG |
p.V534W |
Missense |
13/13 |
- |
1 |
X-37670058-T-A |
c.1601T>A |
p.V534D |
Missense |
13/13 |
- |
7 |
X-37670058-T-C |
c.1601T>C |
p.V534A |
Missense |
13/13 |
- |
1 |
X-37670058-T-G |
c.1601T>G |
p.V534G |
Missense |
13/13 |
- |
1 |
X-37670058-TT-AG |
c.1601_1602delinsAG |
p.V534E |
Missense |
13/13 |
- |
1 |
X-37670058-TTTTCCTC-T |
c.1603_1609del |
p.F535Vfs*10 |
Frameshift |
13/13 |
- |
1 |
X-37670060-T-A |
c.1603T>A |
p.F535I |
Missense |
13/13 |
- |
1 |
X-37670060-T-C |
c.1603T>C |
p.F535L |
Missense |
13/13 |
- |
1 |
X-37670060-T-G |
c.1603T>G |
p.F535V |
Missense |
13/13 |
- |
1 |
X-37670060-TT-AA |
c.1603_1604inv |
p.F535N |
Missense |
13/13 |
- |
1 |
X-37670060-TT-AC |
c.1603_1604delinsAC |
p.F535T |
Missense |
13/13 |
- |
1 |
X-37670060-TT-CA |
c.1603_1604delinsCA |
p.F535H |
Missense |
13/13 |
- |
1 |
X-37670060-TTC-AAG |
c.1603_1605delinsAAG |
p.F535K |
Missense |
13/13 |
- |
1 |
X-37670060-TTC-ATG |
c.1603_1605delinsATG |
p.F535M |
Missense |
13/13 |
- |
1 |
X-37670060-TT-CC |
c.1603_1604delinsCC |
p.F535P |
Missense |
13/13 |
- |
1 |
X-37670060-TTC-CAA |
c.1603_1605delinsCAA |
p.F535Q |
Missense |
13/13 |
- |
1 |
X-37670060-TT-CG |
c.1603_1604delinsCG |
p.F535R |
Missense |
13/13 |
- |
1 |
X-37670060-TTC-GAG |
c.1603_1605delinsGAG |
p.F535E |
Missense |
13/13 |
- |
1 |
X-37670060-TT-GA |
c.1603_1604delinsGA |
p.F535D |
Missense |
13/13 |
- |
1 |
X-37670060-TT-GC |
c.1603_1604delinsGC |
p.F535A |
Missense |
13/13 |
- |
1 |
X-37670060-TT-GG |
c.1603_1604delinsGG |
p.F535G |
Missense |
13/13 |
- |
1 |
X-37670062-C-A |
c.1605C>A |
p.F535L |
Missense |
13/13 |
- |
1 |
X-37670062-C-G |
c.1605C>G |
p.F535L |
Missense |
13/13 |
- |
1 |
X-37670061-T-A |
c.1604T>A |
p.F535Y |
Missense |
13/13 |
- |
1 |
X-37670061-T-C |
c.1604T>C |
p.F535S |
Missense |
13/13 |
- |
1 |
X-37670061-TC-GG |
c.1604_1605delinsGG |
p.F535W |
Missense |
13/13 |
- |
1 |
X-37670061-T-G |
c.1604T>G |
p.F535C |
Missense |
13/13 |
- |
1 |
X-37670063-C-A |
c.1606C>A |
p.L536I |
Missense |
13/13 |
- |
2 |
X-37670063-C-G |
c.1606C>G |
p.L536V |
Missense |
13/13 |
- |
2 |
X-37670063-C-T |
c.1606C>T |
p.L536F |
Missense |
13/13 |
- |
2 |
X-37670063-CT-AA |
c.1606_1607delinsAA |
p.L536N |
Missense |
13/13 |
- |
1 |
X-37670063-CT-AC |
c.1606_1607delinsAC |
p.L536T |
Missense |
13/13 |
- |
1 |
X-37670063-CT-AG |
c.1606_1607inv |
p.L536S |
Missense |
13/13 |
- |
1 |
X-37670063-CTC-AAG |
c.1606_1608delinsAAG |
p.L536K |
Missense |
13/13 |
- |
1 |
X-37670063-CTC-ATG |
c.1606_1608delinsATG |
p.L536M |
Missense |
13/13 |
- |
1 |
X-37670063-CTC-GAG |
c.1606_1608inv |
p.L536E |
Missense |
13/13 |
- |
1 |
X-37670063-CTC-TGG |
c.1606_1608delinsTGG |
p.L536W |
Missense |
13/13 |
- |
1 |
X-37670063-CT-GA |
c.1606_1607delinsGA |
p.L536D |
Missense |
13/13 |
- |
1 |
X-37670063-CT-GC |
c.1606_1607delinsGC |
p.L536A |
Missense |
13/13 |
- |
1 |
X-37670063-CT-GG |
c.1606_1607delinsGG |
p.L536G |
Missense |
13/13 |
- |
1 |
X-37670063-CT-TA |
c.1606_1607delinsTA |
p.L536Y |
Missense |
13/13 |
- |
1 |
X-37670063-CT-TG |
c.1606_1607delinsTG |
p.L536C |
Missense |
13/13 |
- |
1 |
X-37670063-C-CT |
c.1607dup |
p.C537Lfs*4 |
Frameshift |
13/13 |
- |
1 |
X-37670064-T-A |
c.1607T>A |
p.L536H |
Missense |
13/13 |
- |
1 |
X-37670064-T-C |
c.1607T>C |
p.L536P |
Missense |
13/13 |
- |
1 |
X-37670064-TC-AA |
c.1607_1608delinsAA |
p.L536Q |
Missense |
13/13 |
- |
1 |
X-37670064-T-G |
c.1607T>G |
p.L536R |
Missense |
13/13 |
- |
1 |
X-37670066-T-A |
c.1609T>A |
p.C537S |
Missense |
13/13 |
- |
1 |
X-37670066-T-C |
c.1609T>C |
p.C537R |
Missense |
13/13 |
- |
14 |
X-37670066-T-G |
c.1609T>G |
p.C537G |
Missense |
13/13 |
- |
1 |
X-37670066-TG-AA |
c.1609_1610delinsAA |
p.C537N |
Missense |
13/13 |
- |
1 |
X-37670066-TG-AC |
c.1609_1610delinsAC |
p.C537T |
Missense |
13/13 |
- |
1 |
X-37670066-TG-AT |
c.1609_1610delinsAT |
p.C537I |
Missense |
13/13 |
- |
1 |
X-37670066-TG-CA |
c.1609_1610inv |
p.C537H |
Missense |
13/13 |
- |
1 |
X-37670066-TG-CC |
c.1609_1610delinsCC |
p.C537P |
Missense |
13/13 |
- |
1 |
X-37670066-TG-CT |
c.1609_1610delinsCT |
p.C537L |
Missense |
13/13 |
- |
1 |
X-37670066-TG-GA |
c.1609_1610delinsGA |
p.C537D |
Missense |
13/13 |
- |
1 |
X-37670066-TG-GC |
c.1609_1610delinsGC |
p.C537A |
Missense |
13/13 |
- |
1 |
X-37670066-TG-GT |
c.1609_1610delinsGT |
p.C537V |
Missense |
13/13 |
- |
1 |
X-37670066-TGT-AAG |
c.1609_1611delinsAAG |
p.C537K |
Missense |
13/13 |
- |
1 |
X-37670066-TGT-ATG |
c.1609_1611delinsATG |
p.C537M |
Missense |
13/13 |
- |
1 |
X-37670066-TGT-CAA |
c.1609_1611delinsCAA |
p.C537Q |
Missense |
13/13 |
- |
1 |
X-37670066-TGT-GAG |
c.1609_1611delinsGAG |
p.C537E |
Missense |
13/13 |
- |
1 |
X-37670067-G-C |
c.1610G>C |
p.C537S |
Missense |
13/13 |
- |
1 |
X-37670067-G-A |
c.1610G>A |
p.C537Y |
Missense |
13/13 |
- |
1 |
X-37670067-G-T |
c.1610G>T |
p.C537F |
Missense |
13/13 |
- |
1 |
X-37670065-CTG-C |
c.1611_1612del |
p.C537Wfs*3 |
Frameshift |
13/13 |
- |
1 |
X-37670068-T-G |
c.1611T>G |
p.C537W |
Missense |
13/13 |
- |
1 |
X-37670069-G-A |
c.1612G>A |
p.G538R |
Missense |
13/13 |
- |
2 |
X-37670069-G-C |
c.1612G>C |
p.G538R |
Missense |
13/13 |
- |
2 |
X-37670069-GG-AA |
c.1612_1613delinsAA |
p.G538K |
Missense |
13/13 |
- |
1 |
X-37670069-GGA-AAC |
c.1612_1614delinsAAC |
p.G538N |
Missense |
13/13 |
- |
1 |
X-37670069-GGA-AGC |
c.1612_1614delinsAGC |
p.G538S |
Missense |
13/13 |
- |
1 |
X-37670069-GGA-ATG |
c.1612_1614delinsATG |
p.G538M |
Missense |
13/13 |
- |
1 |
X-37670069-GG-AC |
c.1612_1613delinsAC |
p.G538T |
Missense |
13/13 |
- |
1 |
X-37670069-GGA-CAT |
c.1612_1614delinsCAT |
p.G538H |
Missense |
13/13 |
- |
1 |
X-37670069-GG-AT |
c.1612_1613delinsAT |
p.G538I |
Missense |
13/13 |
- |
1 |
X-37670069-GGA-TAT |
c.1612_1614delinsTAT |
p.G538Y |
Missense |
13/13 |
- |
1 |
X-37670069-GGA-TGG |
c.1612_1614delinsTGG |
p.G538W |
Missense |
13/13 |
- |
1 |
X-37670069-GGA-TGT |
c.1612_1614delinsTGT |
p.G538C |
Missense |
13/13 |
- |
1 |
X-37670069-GGA-TTT |
c.1612_1614delinsTTT |
p.G538F |
Missense |
13/13 |
- |
1 |
X-37670069-GG-CA |
c.1612_1613delinsCA |
p.G538Q |
Missense |
13/13 |
- |
1 |
X-37670069-GG-CC |
c.1612_1613inv |
p.G538P |
Missense |
13/13 |
- |
1 |
X-37670069-GG-CT |
c.1612_1613delinsCT |
p.G538L |
Missense |
13/13 |
- |
1 |
X-37670070-G-A |
c.1613G>A |
p.G538E |
Missense |
13/13 |
- |
1 |
X-37670070-GA-AC |
c.1613_1614delinsAC |
p.G538D |
Missense |
13/13 |
- |
1 |
X-37670070-G-C |
c.1613G>C |
p.G538A |
Missense |
13/13 |
- |
1 |
X-37670070-G-T |
c.1613G>T |
p.G538V |
Missense |
13/13 |
- |
1 |
X-37670072-C-A |
c.1615C>A |
p.P539T |
Missense |
13/13 |
- |
2 |
X-37670072-CC-AA |
c.1615_1616delinsAA |
p.P539N |
Missense |
13/13 |
- |
1 |
X-37670072-CC-AT |
c.1615_1616delinsAT |
p.P539I |
Missense |
13/13 |
- |
1 |
X-37670072-CC-GA |
c.1615_1616delinsGA |
p.P539D |
Missense |
13/13 |
- |
1 |
X-37670072-CC-GG |
c.1615_1616inv |
p.P539G |
Missense |
13/13 |
- |
1 |
X-37670072-CC-GT |
c.1615_1616delinsGT |
p.P539V |
Missense |
13/13 |
- |
1 |
X-37670072-CC-TA |
c.1615_1616delinsTA |
p.P539Y |
Missense |
13/13 |
- |
1 |
X-37670072-CCT-AAG |
c.1615_1617delinsAAG |
p.P539K |
Missense |
13/13 |
- |
1 |
X-37670072-CCT-ATG |
c.1615_1617delinsATG |
p.P539M |
Missense |
13/13 |
- |
1 |
X-37670072-CC-TG |
c.1615_1616delinsTG |
p.P539C |
Missense |
13/13 |
- |
1 |
X-37670072-CCT-GAG |
c.1615_1617delinsGAG |
p.P539E |
Missense |
13/13 |
- |
1 |
X-37670072-CC-TT |
c.1615_1616delinsTT |
p.P539F |
Missense |
13/13 |
- |
1 |
X-37670072-CCT-TGG |
c.1615_1617delinsTGG |
p.P539W |
Missense |
13/13 |
- |
1 |
X-37670072-C-G |
c.1615C>G |
p.P539A |
Missense |
13/13 |
- |
1 |
X-37670072-C-T |
c.1615C>T |
p.P539S |
Missense |
13/13 |
- |
1 |
X-37670073-C-A |
c.1616C>A |
p.P539H |
Missense |
13/13 |
- |
1 |
X-37670073-C-G |
c.1616C>G |
p.P539R |
Missense |
13/13 |
- |
1 |
X-37670073-C-T |
c.1616C>T |
p.P539L |
Missense |
13/13 |
- |
1 |
X-37670073-CT-AA |
c.1616_1617delinsAA |
p.P539Q |
Missense |
13/13 |
- |
1 |
X-37670075-G-A |
c.1618G>A |
p.E540K |
Missense |
13/13 |
- |
1 |
X-37670075-GAA-AAC |
c.1618_1620delinsAAC |
p.E540N |
Missense |
13/13 |
- |
1 |
X-37670075-GAA-ATG |
c.1618_1620delinsATG |
p.E540M |
Missense |
13/13 |
- |
1 |
X-37670075-GA-AC |
c.1618_1619delinsAC |
p.E540T |
Missense |
13/13 |
- |
1 |
X-37670075-GAA-CAT |
c.1618_1620delinsCAT |
p.E540H |
Missense |
13/13 |
- |
1 |
X-37670075-GA-AG |
c.1618_1619delinsAG |
p.E540R |
Missense |
13/13 |
- |
1 |
X-37670075-GA-AT |
c.1618_1619delinsAT |
p.E540I |
Missense |
13/13 |
- |
1 |
X-37670075-GAA-TAT |
c.1618_1620delinsTAT |
p.E540Y |
Missense |
13/13 |
- |
1 |
X-37670075-GAA-TGG |
c.1618_1620delinsTGG |
p.E540W |
Missense |
13/13 |
- |
1 |
X-37670075-GAA-TGT |
c.1618_1620delinsTGT |
p.E540C |
Missense |
13/13 |
- |
1 |
X-37670075-GAA-TTT |
c.1618_1620delinsTTT |
p.E540F |
Missense |
13/13 |
- |
1 |
X-37670075-GA-CC |
c.1618_1619delinsCC |
p.E540P |
Missense |
13/13 |
- |
1 |
X-37670075-GA-CT |
c.1618_1619delinsCT |
p.E540L |
Missense |
13/13 |
- |
1 |
X-37670075-GA-TC |
c.1618_1619inv |
p.E540S |
Missense |
13/13 |
- |
1 |
X-37670075-G-C |
c.1618G>C |
p.E540Q |
Missense |
13/13 |
- |
1 |
X-37670075-G-T |
c.1618G>T |
p.E540* |
Nonsense |
13/13 |
- |
2 |
X-37670075-TG-T |
c.1618del |
p.E540Kfs*7 |
Frameshift |
13/13 |
- |
3 |
X-37670076-A-C |
c.1619A>C |
p.E540A |
Missense |
13/13 |
- |
1 |
X-37670076-A-G |
c.1619A>G |
p.E540G |
Missense |
13/13 |
- |
1 |
X-37670076-A-T |
c.1619A>T |
p.E540V |
Missense |
13/13 |
- |
1 |
X-37670077-A-C |
c.1620A>C |
p.E540D |
Missense |
13/13 |
- |
1 |
X-37670077-A-T |
c.1620A>T |
p.E540D |
Missense |
13/13 |
- |
1 |
X-37670078-G-A |
c.1621G>A |
p.A541T |
Missense |
13/13 |
- |
1 |
X-37670078-G-C |
c.1621G>C |
p.A541P |
Missense |
13/13 |
- |
1 |
X-37670078-GC-AA |
c.1621_1622delinsAA |
p.A541N |
Missense |
13/13 |
- |
1 |
X-37670078-GC-AT |
c.1621_1622delinsAT |
p.A541I |
Missense |
13/13 |
- |
1 |
X-37670078-GC-CA |
c.1621_1622delinsCA |
p.A541H |
Missense |
13/13 |
- |
1 |
X-37670078-GCC-AAG |
c.1621_1623delinsAAG |
p.A541K |
Missense |
13/13 |
- |
1 |
X-37670078-GCC-ATG |
c.1621_1623delinsATG |
p.A541M |
Missense |
13/13 |
- |
1 |
X-37670078-GCC-CAA |
c.1621_1623delinsCAA |
p.A541Q |
Missense |
13/13 |
- |
1 |
X-37670078-GC-CG |
c.1621_1622delinsCG |
p.A541R |
Missense |
13/13 |
- |
1 |
X-37670078-GC-CT |
c.1621_1622delinsCT |
p.A541L |
Missense |
13/13 |
- |
1 |
X-37670078-GCC-TGG |
c.1621_1623delinsTGG |
p.A541W |
Missense |
13/13 |
- |
1 |
X-37670078-GC-TA |
c.1621_1622delinsTA |
p.A541Y |
Missense |
13/13 |
- |
1 |
X-37670078-GC-TG |
c.1621_1622delinsTG |
p.A541C |
Missense |
13/13 |
- |
1 |
X-37670078-GC-TT |
c.1621_1622delinsTT |
p.A541F |
Missense |
13/13 |
- |
1 |
X-37670078-G-T |
c.1621G>T |
p.A541S |
Missense |
13/13 |
- |
1 |
X-37670079-C-A |
c.1622C>A |
p.A541D |
Missense |
13/13 |
- |
1 |
X-37670079-CC-AG |
c.1622_1623delinsAG |
p.A541E |
Missense |
13/13 |
- |
1 |
X-37670079-C-G |
c.1622C>G |
p.A541G |
Missense |
13/13 |
- |
1 |
X-37670079-C-T |
c.1622C>T |
p.A541V |
Missense |
13/13 |
- |
1 |
X-37670081-T-A |
c.1624T>A |
p.L542M |
Missense |
13/13 |
- |
1 |
X-37670081-T-G |
c.1624T>G |
p.L542V |
Missense |
13/13 |
- |
1 |
X-37670081-TT-AA |
c.1624_1625inv |
p.L542K |
Missense |
13/13 |
- |
1 |
X-37670081-TT-AC |
c.1624_1625delinsAC |
p.L542T |
Missense |
13/13 |
- |
1 |
X-37670081-TT-AG |
c.1624_1625delinsAG |
p.L542R |
Missense |
13/13 |
- |
1 |
X-37670081-TT-CA |
c.1624_1625delinsCA |
p.L542Q |
Missense |
13/13 |
- |
1 |
X-37670081-TT-CC |
c.1624_1625delinsCC |
p.L542P |
Missense |
13/13 |
- |
1 |
X-37670081-TT-GA |
c.1624_1625delinsGA |
p.L542E |
Missense |
13/13 |
- |
1 |
X-37670081-TTG-AAC |
c.1624_1626delinsAAC |
p.L542N |
Missense |
13/13 |
- |
1 |
X-37670081-TTG-ATC |
c.1624_1626delinsATC |
p.L542I |
Missense |
13/13 |
- |
1 |
X-37670081-TT-GC |
c.1624_1625delinsGC |
p.L542A |
Missense |
13/13 |
- |
1 |
X-37670081-TTG-CAT |
c.1624_1626delinsCAT |
p.L542H |
Missense |
13/13 |
- |
1 |
X-37670081-TT-GG |
c.1624_1625delinsGG |
p.L542G |
Missense |
13/13 |
- |
1 |
X-37670081-TTG-GAC |
c.1624_1626delinsGAC |
p.L542D |
Missense |
13/13 |
- |
1 |
X-37670082-T-C |
c.1625T>C |
p.L542S |
Missense |
13/13 |
- |
4 |
X-37670082-T-G |
c.1625T>G |
p.L542W |
Missense |
13/13 |
- |
1 |
X-37670082-TG-AT |
c.1625_1626delinsAT |
p.L542Y |
Missense |
13/13 |
- |
1 |
X-37670082-TG-GT |
c.1625_1626delinsGT |
p.L542C |
Missense |
13/13 |
- |
1 |
X-37670083-G-C |
c.1626G>C |
p.L542F |
Missense |
13/13 |
- |
1 |
X-37670083-G-T |
c.1626G>T |
p.L542F |
Missense |
13/13 |
- |
1 |
X-37670083-TGGCTGAAA-T |
c.1626_1633del |
p.L542Ffs*4 |
Frameshift |
13/13 |
- |
1 |
X-37670084-G-A |
c.1627G>A |
p.A543T |
Missense |
13/13 |
- |
1 |
X-37670084-G-C |
c.1627G>C |
p.A543P |
Missense |
13/13 |
- |
1 |
X-37670084-GC-AA |
c.1627_1628delinsAA |
p.A543N |
Missense |
13/13 |
- |
1 |
X-37670084-GC-AT |
c.1627_1628delinsAT |
p.A543I |
Missense |
13/13 |
- |
1 |
X-37670084-GC-CA |
c.1627_1628delinsCA |
p.A543H |
Missense |
13/13 |
- |
1 |
X-37670084-GC-CG |
c.1627_1628delinsCG |
p.A543R |
Missense |
13/13 |
- |
1 |
X-37670084-GC-CT |
c.1627_1628delinsCT |
p.A543L |
Missense |
13/13 |
- |
1 |
X-37670084-GC-TA |
c.1627_1628delinsTA |
p.A543Y |
Missense |
13/13 |
- |
1 |
X-37670084-GCT-AAG |
c.1627_1629delinsAAG |
p.A543K |
Missense |
13/13 |
- |
1 |
X-37670084-GCT-ATG |
c.1627_1629delinsATG |
p.A543M |
Missense |
13/13 |
- |
1 |
X-37670084-GCT-CAA |
c.1627_1629delinsCAA |
p.A543Q |
Missense |
13/13 |
- |
1 |
X-37670084-GC-TG |
c.1627_1628delinsTG |
p.A543C |
Missense |
13/13 |
- |
1 |
X-37670084-GC-TT |
c.1627_1628delinsTT |
p.A543F |
Missense |
13/13 |
- |
1 |
X-37670084-GCT-TGG |
c.1627_1629delinsTGG |
p.A543W |
Missense |
13/13 |
- |
1 |
X-37670084-G-T |
c.1627G>T |
p.A543S |
Missense |
13/13 |
- |
1 |
X-37670085-C-A |
c.1628C>A |
p.A543D |
Missense |
13/13 |
- |
1 |
X-37670085-C-G |
c.1628C>G |
p.A543G |
Missense |
13/13 |
- |
1 |
X-37670085-C-T |
c.1628C>T |
p.A543V |
Missense |
13/13 |
- |
1 |
X-37670085-CT-AG |
c.1628_1629inv |
p.A543E |
Missense |
13/13 |
- |
1 |
X-37670087-G-A |
c.1630G>A |
p.E544K |
Missense |
13/13 |
- |
2 |
X-37670087-GAA-AAC |
c.1630_1632delinsAAC |
p.E544N |
Missense |
13/13 |
- |
1 |
X-37670087-GAA-ATG |
c.1630_1632delinsATG |
p.E544M |
Missense |
13/13 |
- |
1 |
X-37670087-GA-AC |
c.1630_1631delinsAC |
p.E544T |
Missense |
13/13 |
- |
1 |
X-37670087-GAA-CAT |
c.1630_1632delinsCAT |
p.E544H |
Missense |
13/13 |
- |
1 |
X-37670087-GA-AG |
c.1630_1631delinsAG |
p.E544R |
Missense |
13/13 |
- |
1 |
X-37670087-GA-AT |
c.1630_1631delinsAT |
p.E544I |
Missense |
13/13 |
- |
1 |
X-37670087-GAA-TAT |
c.1630_1632delinsTAT |
p.E544Y |
Missense |
13/13 |
- |
1 |
X-37670087-GAA-TGG |
c.1630_1632delinsTGG |
p.E544W |
Missense |
13/13 |
- |
1 |
X-37670087-GAA-TGT |
c.1630_1632delinsTGT |
p.E544C |
Missense |
13/13 |
- |
1 |
X-37670087-GAA-TTT |
c.1630_1632delinsTTT |
p.E544F |
Missense |
13/13 |
- |
1 |
X-37670087-GA-CC |
c.1630_1631delinsCC |
p.E544P |
Missense |
13/13 |
- |
1 |
X-37670087-GA-CT |
c.1630_1631delinsCT |
p.E544L |
Missense |
13/13 |
- |
1 |
X-37670087-GA-TC |
c.1630_1631inv |
p.E544S |
Missense |
13/13 |
- |
1 |
X-37670087-G-C |
c.1630G>C |
p.E544Q |
Missense |
13/13 |
- |
2 |
X-37670088-A-C |
c.1631A>C |
p.E544A |
Missense |
13/13 |
- |
1 |
X-37670088-A-G |
c.1631A>G |
p.E544G |
Missense |
13/13 |
- |
1 |
X-37670088-A-T |
c.1631A>T |
p.E544V |
Missense |
13/13 |
- |
1 |
X-37670089-A-C |
c.1632A>C |
p.E544D |
Missense |
13/13 |
- |
1 |
X-37670089-A-T |
c.1632A>T |
p.E544D |
Missense |
13/13 |
- |
1 |
X-37670090-A-C |
c.1633A>C |
p.T545P |
Missense |
13/13 |
- |
1 |
X-37670090-AC-CA |
c.1633_1634delinsCA |
p.T545H |
Missense |
13/13 |
- |
1 |
X-37670090-ACC-CAA |
c.1633_1635delinsCAA |
p.T545Q |
Missense |
13/13 |
- |
1 |
X-37670090-ACC-GAG |
c.1633_1635delinsGAG |
p.T545E |
Missense |
13/13 |
- |
1 |
X-37670090-AC-CT |
c.1633_1634delinsCT |
p.T545L |
Missense |
13/13 |
- |
1 |
X-37670090-ACC-TGG |
c.1633_1635delinsTGG |
p.T545W |
Missense |
13/13 |
- |
1 |
X-37670090-AC-GA |
c.1633_1634delinsGA |
p.T545D |
Missense |
13/13 |
- |
1 |
X-37670090-AC-GG |
c.1633_1634delinsGG |
p.T545G |
Missense |
13/13 |
- |
1 |
X-37670090-AC-GT |
c.1633_1634inv |
p.T545V |
Missense |
13/13 |
- |
1 |
X-37670090-AC-TA |
c.1633_1634delinsTA |
p.T545Y |
Missense |
13/13 |
- |
1 |
X-37670090-AC-TG |
c.1633_1634delinsTG |
p.T545C |
Missense |
13/13 |
- |
1 |
X-37670090-AC-TT |
c.1633_1634delinsTT |
p.T545F |
Missense |
13/13 |
- |
1 |
X-37670090-A-G |
c.1633A>G |
p.T545A |
Missense |
13/13 |
- |
1 |
X-37670090-A-T |
c.1633A>T |
p.T545S |
Missense |
13/13 |
- |
1 |
X-37670091-C-A |
c.1634C>A |
p.T545N |
Missense |
13/13 |
- |
1 |
X-37670091-CC-AG |
c.1634_1635delinsAG |
p.T545K |
Missense |
13/13 |
- |
1 |
X-37670091-CC-GG |
c.1634_1635inv |
p.T545R |
Missense |
13/13 |
- |
1 |
X-37670091-CC-TG |
c.1634_1635delinsTG |
p.T545M |
Missense |
13/13 |
- |
1 |
X-37670091-C-G |
c.1634C>G |
p.T545S |
Missense |
13/13 |
- |
1 |
X-37670091-C-T |
c.1634C>T |
p.T545I |
Missense |
13/13 |
- |
1 |
X-37670093-C-A |
c.1636C>A |
p.L546M |
Missense |
13/13 |
- |
1 |
X-37670093-C-G |
c.1636C>G |
p.L546V |
Missense |
13/13 |
- |
1 |
X-37670093-CT-AA |
c.1636_1637delinsAA |
p.L546K |
Missense |
13/13 |
- |
1 |
X-37670093-CT-AC |
c.1636_1637delinsAC |
p.L546T |
Missense |
13/13 |
- |
1 |
X-37670093-CT-GA |
c.1636_1637delinsGA |
p.L546E |
Missense |
13/13 |
- |
1 |
X-37670093-CTG-AAC |
c.1636_1638delinsAAC |
p.L546N |
Missense |
13/13 |
- |
1 |
X-37670093-CTG-ATC |
c.1636_1638delinsATC |
p.L546I |
Missense |
13/13 |
- |
1 |
X-37670093-CT-GC |
c.1636_1637delinsGC |
p.L546A |
Missense |
13/13 |
- |
1 |
X-37670093-CT-GG |
c.1636_1637delinsGG |
p.L546G |
Missense |
13/13 |
- |
1 |
X-37670093-CTG-GAC |
c.1636_1638delinsGAC |
p.L546D |
Missense |
13/13 |
- |
1 |
X-37670093-CTG-TAT |
c.1636_1638delinsTAT |
p.L546Y |
Missense |
13/13 |
- |
1 |
X-37670093-CTG-TGT |
c.1636_1638delinsTGT |
p.L546C |
Missense |
13/13 |
- |
1 |
X-37670093-CTG-TTT |
c.1636_1638delinsTTT |
p.L546F |
Missense |
13/13 |
- |
1 |
X-37670093-CT-TC |
c.1636_1637delinsTC |
p.L546S |
Missense |
13/13 |
- |
1 |
X-37670093-CT-TG |
c.1636_1637delinsTG |
p.L546W |
Missense |
13/13 |
- |
1 |
X-37670094-T-A |
c.1637T>A |
p.L546Q |
Missense |
13/13 |
- |
1 |
X-37670094-T-C |
c.1637T>C |
p.L546P |
Missense |
13/13 |
- |
6 |
X-37670094-T-G |
c.1637T>G |
p.L546R |
Missense |
13/13 |
- |
5 |
X-37670094-TG-AT |
c.1637_1638delinsAT |
p.L546H |
Missense |
13/13 |
- |
1 |
X-37670095-G-A |
c.1638G>A |
p.L546= |
Synonymous |
13/13 |
- |
1 |
X-37670096-A-G |
c.1639A>G |
p.S547G |
Missense |
13/13 |
- |
1 |
X-37670096-AG-CA |
c.1639_1640delinsCA |
p.S547H |
Missense |
13/13 |
- |
1 |
X-37670096-AG-CC |
c.1639_1640delinsCC |
p.S547P |
Missense |
13/13 |
- |
1 |
X-37670096-AG-CT |
c.1639_1640inv |
p.S547L |
Missense |
13/13 |
- |
1 |
X-37670096-AG-GA |
c.1639_1640delinsGA |
p.S547D |
Missense |
13/13 |
- |
1 |
X-37670096-AG-GC |
c.1639_1640delinsGC |
p.S547A |
Missense |
13/13 |
- |
1 |
X-37670096-AG-GT |
c.1639_1640delinsGT |
p.S547V |
Missense |
13/13 |
- |
1 |
X-37670096-AG-TA |
c.1639_1640delinsTA |
p.S547Y |
Missense |
13/13 |
- |
1 |
X-37670096-AGT-CAA |
c.1639_1641delinsCAA |
p.S547Q |
Missense |
13/13 |
- |
1 |
X-37670096-AGT-GAG |
c.1639_1641delinsGAG |
p.S547E |
Missense |
13/13 |
- |
1 |
X-37670096-AG-TT |
c.1639_1640delinsTT |
p.S547F |
Missense |
13/13 |
- |
1 |
X-37670096-AGT-TGG |
c.1639_1641delinsTGG |
p.S547W |
Missense |
13/13 |
- |
1 |
X-37670096-A-T |
c.1639A>T |
p.S547C |
Missense |
13/13 |
- |
1 |
X-37670097-G-A |
c.1640G>A |
p.S547N |
Missense |
13/13 |
- |
2 |
X-37670097-G-C |
c.1640G>C |
p.S547T |
Missense |
13/13 |
- |
1 |
X-37670097-G-T |
c.1640G>T |
p.S547I |
Missense |
13/13 |
- |
1 |
X-37670097-GT-AG |
c.1640_1641delinsAG |
p.S547K |
Missense |
13/13 |
- |
1 |
X-37670097-GT-TG |
c.1640_1641delinsTG |
p.S547M |
Missense |
13/13 |
- |
1 |
X-37670096-A-C |
c.1639A>C |
p.S547R |
Missense |
13/13 |
- |
1 |
X-37670098-T-A |
c.1641T>A |
p.S547R |
Missense |
13/13 |
- |
1 |
X-37670098-T-G |
c.1641T>G |
p.S547R |
Missense |
13/13 |
- |
1 |
X-37670099-AAA-CAT |
c.1642_1644delinsCAT |
p.K548H |
Missense |
13/13 |
- |
1 |
X-37670099-AAA-GAC |
c.1642_1644delinsGAC |
p.K548D |
Missense |
13/13 |
- |
1 |
X-37670099-AAA-TAT |
c.1642_1644delinsTAT |
p.K548Y |
Missense |
13/13 |
- |
1 |
X-37670099-AAA-TGG |
c.1642_1644delinsTGG |
p.K548W |
Missense |
13/13 |
- |
1 |
X-37670099-AAA-TGT |
c.1642_1644delinsTGT |
p.K548C |
Missense |
13/13 |
- |
1 |
X-37670099-AAA-TTT |
c.1642_1644inv |
p.K548F |
Missense |
13/13 |
- |
1 |
X-37670099-AA-CC |
c.1642_1643delinsCC |
p.K548P |
Missense |
13/13 |
- |
1 |
X-37670099-AA-CT |
c.1642_1643delinsCT |
p.K548L |
Missense |
13/13 |
- |
1 |
X-37670099-AA-GC |
c.1642_1643delinsGC |
p.K548A |
Missense |
13/13 |
- |
1 |
X-37670099-AA-GG |
c.1642_1643delinsGG |
p.K548G |
Missense |
13/13 |
- |
1 |
X-37670099-AA-GT |
c.1642_1643delinsGT |
p.K548V |
Missense |
13/13 |
- |
1 |
X-37670099-A-C |
c.1642A>C |
p.K548Q |
Missense |
13/13 |
- |
4 |
X-37670099-A-G |
c.1642A>G |
p.K548E |
Missense |
13/13 |
- |
1 |
X-37670099-A-T |
c.1642A>T |
p.K548* |
Nonsense |
13/13 |
- |
1 |
X-37670100-AA-GC |
c.1643_1644delinsGC |
p.K548S |
Missense |
13/13 |
- |
1 |
X-37670100-AA-TG |
c.1643_1644delinsTG |
p.K548M |
Missense |
13/13 |
- |
1 |
X-37670100-A-C |
c.1643A>C |
p.K548T |
Missense |
13/13 |
- |
1 |
X-37670100-A-G |
c.1643A>G |
p.K548R |
Missense |
13/13 |
- |
1 |
X-37670100-A-T |
c.1643A>T |
p.K548I |
Missense |
13/13 |
- |
1 |
X-37670101-A-C |
c.1644A>C |
p.K548N |
Missense |
13/13 |
- |
1 |
X-37670101-A-G |
c.1644A>G |
p.K548= |
Synonymous |
13/13 |
- |
1 |
X-37670101-A-T |
c.1644A>T |
p.K548N |
Missense |
13/13 |
- |
1 |
X-37670102-C-A |
c.1645C>A |
p.Q549K |
Missense |
13/13 |
- |
1 |
X-37670102-CAA-AAC |
c.1645_1647delinsAAC |
p.Q549N |
Missense |
13/13 |
- |
1 |
X-37670102-CAA-ATG |
c.1645_1647delinsATG |
p.Q549M |
Missense |
13/13 |
- |
1 |
X-37670102-CA-AC |
c.1645_1646delinsAC |
p.Q549T |
Missense |
13/13 |
- |
1 |
X-37670102-CAA-GAC |
c.1645_1647delinsGAC |
p.Q549D |
Missense |
13/13 |
- |
1 |
X-37670102-CA-AT |
c.1645_1646delinsAT |
p.Q549I |
Missense |
13/13 |
- |
1 |
X-37670102-CAA-TAT |
c.1645_1647delinsTAT |
p.Q549Y |
Missense |
13/13 |
- |
1 |
X-37670102-CAA-TGG |
c.1645_1647delinsTGG |
p.Q549W |
Missense |
13/13 |
- |
1 |
X-37670102-CAA-TGT |
c.1645_1647delinsTGT |
p.Q549C |
Missense |
13/13 |
- |
1 |
X-37670102-CAA-TTT |
c.1645_1647delinsTTT |
p.Q549F |
Missense |
13/13 |
- |
1 |
X-37670102-CA-GC |
c.1645_1646delinsGC |
p.Q549A |
Missense |
13/13 |
- |
1 |
X-37670102-CA-GG |
c.1645_1646delinsGG |
p.Q549G |
Missense |
13/13 |
- |
1 |
X-37670102-CA-GT |
c.1645_1646delinsGT |
p.Q549V |
Missense |
13/13 |
- |
1 |
X-37670102-CA-TC |
c.1645_1646delinsTC |
p.Q549S |
Missense |
13/13 |
- |
1 |
X-37670102-C-G |
c.1645C>G |
p.Q549E |
Missense |
13/13 |
- |
1 |
X-37670102-C-T |
c.1645C>T |
p.Q549* |
Nonsense |
13/13 |
- |
2 |
X-37670103-A-C |
c.1646A>C |
p.Q549P |
Missense |
13/13 |
- |
1 |
X-37670103-A-G |
c.1646A>G |
p.Q549R |
Missense |
13/13 |
- |
1 |
X-37670103-A-T |
c.1646A>T |
p.Q549L |
Missense |
13/13 |
- |
1 |
X-37670104-A-C |
c.1647A>C |
p.Q549H |
Missense |
13/13 |
- |
1 |
X-37670104-A-T |
c.1647A>T |
p.Q549H |
Missense |
13/13 |
- |
1 |
X-37670105-A-G |
c.1648A>G |
p.S550G |
Missense |
13/13 |
- |
1 |
X-37670105-AG-CA |
c.1648_1649delinsCA |
p.S550H |
Missense |
13/13 |
- |
1 |
X-37670105-AG-CC |
c.1648_1649delinsCC |
p.S550P |
Missense |
13/13 |
- |
1 |
X-37670105-AGC-CAA |
c.1648_1650delinsCAA |
p.S550Q |
Missense |
13/13 |
- |
1 |
X-37670105-AGC-GAG |
c.1648_1650delinsGAG |
p.S550E |
Missense |
13/13 |
- |
1 |
X-37670105-AG-CT |
c.1648_1649inv |
p.S550L |
Missense |
13/13 |
- |
1 |
X-37670105-AGC-TGG |
c.1648_1650delinsTGG |
p.S550W |
Missense |
13/13 |
- |
1 |
X-37670105-AG-GA |
c.1648_1649delinsGA |
p.S550D |
Missense |
13/13 |
- |
1 |
X-37670105-AG-GC |
c.1648_1649delinsGC |
p.S550A |
Missense |
13/13 |
- |
1 |
X-37670105-AG-GT |
c.1648_1649delinsGT |
p.S550V |
Missense |
13/13 |
- |
1 |
X-37670105-AG-TA |
c.1648_1649delinsTA |
p.S550Y |
Missense |
13/13 |
- |
1 |
X-37670105-AG-TT |
c.1648_1649delinsTT |
p.S550F |
Missense |
13/13 |
- |
1 |
X-37670105-A-T |
c.1648A>T |
p.S550C |
Missense |
13/13 |
- |
1 |
X-37670106-G-A |
c.1649G>A |
p.S550N |
Missense |
13/13 |
- |
1 |
X-37670106-G-C |
c.1649G>C |
p.S550T |
Missense |
13/13 |
- |
1 |
X-37670106-GC-AG |
c.1649_1650delinsAG |
p.S550K |
Missense |
13/13 |
- |
1 |
X-37670106-GC-TG |
c.1649_1650delinsTG |
p.S550M |
Missense |
13/13 |
- |
1 |
X-37670106-G-T |
c.1649G>T |
p.S550I |
Missense |
13/13 |
- |
1 |
X-37670105-A-C |
c.1648A>C |
p.S550R |
Missense |
13/13 |
- |
2 |
X-37670107-C-A |
c.1650C>A |
p.S550R |
Missense |
13/13 |
- |
4 |
X-37670107-C-G |
c.1650C>G |
p.S550R |
Missense |
13/13 |
- |
2 |
X-37670107-C-T |
c.1650C>T |
p.S550= |
Synonymous |
13/13 |
- |
1 |
X-37670108-A-C |
c.1651A>C |
p.I551L |
Missense |
13/13 |
- |
1 |
X-37670108-A-G |
c.1651A>G |
p.I551V |
Missense |
13/13 |
- |
1 |
X-37670108-A-T |
c.1651A>T |
p.I551F |
Missense |
13/13 |
- |
1 |
X-37670108-AT-CA |
c.1651_1652delinsCA |
p.I551H |
Missense |
13/13 |
- |
1 |
X-37670108-AT-CC |
c.1651_1652delinsCC |
p.I551P |
Missense |
13/13 |
- |
1 |
X-37670108-ATC-CAA |
c.1651_1653delinsCAA |
p.I551Q |
Missense |
13/13 |
- |
1 |
X-37670108-ATC-GAG |
c.1651_1653delinsGAG |
p.I551E |
Missense |
13/13 |
- |
1 |
X-37670108-ATC-TGG |
c.1651_1653delinsTGG |
p.I551W |
Missense |
13/13 |
- |
1 |
X-37670108-AT-GA |
c.1651_1652delinsGA |
p.I551D |
Missense |
13/13 |
- |
1 |
X-37670108-AT-GC |
c.1651_1652delinsGC |
p.I551A |
Missense |
13/13 |
- |
1 |
X-37670108-AT-GG |
c.1651_1652delinsGG |
p.I551G |
Missense |
13/13 |
- |
1 |
X-37670108-AT-TA |
c.1651_1652delinsTA |
p.I551Y |
Missense |
13/13 |
- |
1 |
X-37670108-AT-TG |
c.1651_1652delinsTG |
p.I551C |
Missense |
13/13 |
- |
1 |
X-37670109-T-A |
c.1652T>A |
p.I551N |
Missense |
13/13 |
- |
1 |
X-37670109-T-C |
c.1652T>C |
p.I551T |
Missense |
13/13 |
- |
1 |
X-37670109-TC-AG |
c.1652_1653delinsAG |
p.I551K |
Missense |
13/13 |
- |
1 |
X-37670109-TC-GG |
c.1652_1653delinsGG |
p.I551R |
Missense |
13/13 |
- |
1 |
X-37670109-T-G |
c.1652T>G |
p.I551S |
Missense |
13/13 |
- |
1 |
X-37670110-C-G |
c.1653C>G |
p.I551M |
Missense |
13/13 |
- |
1 |
X-37670111-T-A |
c.1654T>A |
p.S552T |
Missense |
13/13 |
- |
1 |
X-37670111-T-C |
c.1654T>C |
p.S552P |
Missense |
13/13 |
- |
1 |
X-37670111-TC-AA |
c.1654_1655delinsAA |
p.S552N |
Missense |
13/13 |
- |
1 |
X-37670111-TC-AT |
c.1654_1655delinsAT |
p.S552I |
Missense |
13/13 |
- |
1 |
X-37670111-TC-CA |
c.1654_1655delinsCA |
p.S552H |
Missense |
13/13 |
- |
1 |
X-37670111-TCC-AAG |
c.1654_1656delinsAAG |
p.S552K |
Missense |
13/13 |
- |
1 |
X-37670111-TCC-ATG |
c.1654_1656delinsATG |
p.S552M |
Missense |
13/13 |
- |
1 |
X-37670111-TCC-CAA |
c.1654_1656delinsCAA |
p.S552Q |
Missense |
13/13 |
- |
1 |
X-37670111-TC-CG |
c.1654_1655delinsCG |
p.S552R |
Missense |
13/13 |
- |
1 |
X-37670111-TCC-GAG |
c.1654_1656delinsGAG |
p.S552E |
Missense |
13/13 |
- |
1 |
X-37670111-TC-CT |
c.1654_1655delinsCT |
p.S552L |
Missense |
13/13 |
- |
1 |
X-37670111-TC-GA |
c.1654_1655inv |
p.S552D |
Missense |
13/13 |
- |
1 |
X-37670111-TC-GG |
c.1654_1655delinsGG |
p.S552G |
Missense |
13/13 |
- |
1 |
X-37670111-TC-GT |
c.1654_1655delinsGT |
p.S552V |
Missense |
13/13 |
- |
1 |
X-37670111-T-G |
c.1654T>G |
p.S552A |
Missense |
13/13 |
- |
1 |
X-37670112-C-A |
c.1655C>A |
p.S552Y |
Missense |
13/13 |
- |
1 |
X-37670112-CC-GG |
c.1655_1656inv |
p.S552W |
Missense |
13/13 |
- |
1 |
X-37670112-C-G |
c.1655C>G |
p.S552C |
Missense |
13/13 |
- |
1 |
X-37670112-C-T |
c.1655C>T |
p.S552F |
Missense |
13/13 |
- |
1 |
X-37670114-AA-CC |
c.1657_1658delinsCC |
p.N553P |
Missense |
13/13 |
- |
1 |
X-37670114-AAC-CAA |
c.1657_1659delinsCAA |
p.N553Q |
Missense |
13/13 |
- |
1 |
X-37670114-AAC-GAG |
c.1657_1659delinsGAG |
p.N553E |
Missense |
13/13 |
- |
1 |
X-37670114-AA-CT |
c.1657_1658delinsCT |
p.N553L |
Missense |
13/13 |
- |
1 |
X-37670114-AAC-TGG |
c.1657_1659delinsTGG |
p.N553W |
Missense |
13/13 |
- |
1 |
X-37670114-AA-GC |
c.1657_1658delinsGC |
p.N553A |
Missense |
13/13 |
- |
1 |
X-37670114-AA-GG |
c.1657_1658delinsGG |
p.N553G |
Missense |
13/13 |
- |
1 |
X-37670114-AA-GT |
c.1657_1658delinsGT |
p.N553V |
Missense |
13/13 |
- |
1 |
X-37670114-AA-TG |
c.1657_1658delinsTG |
p.N553C |
Missense |
13/13 |
- |
1 |
X-37670114-AA-TT |
c.1657_1658inv |
p.N553F |
Missense |
13/13 |
- |
1 |
X-37670114-A-C |
c.1657A>C |
p.N553H |
Missense |
13/13 |
- |
1 |
X-37670114-A-G |
c.1657A>G |
p.N553D |
Missense |
13/13 |
- |
1 |
X-37670114-A-T |
c.1657A>T |
p.N553Y |
Missense |
13/13 |
- |
1 |
X-37670113-CA-C |
c.1658del |
p.N553Tfs*24 |
Frameshift |
13/13 |
- |
1 |
X-37670115-A-C |
c.1658A>C |
p.N553T |
Missense |
13/13 |
- |
1 |
X-37670115-AC-GG |
c.1658_1659delinsGG |
p.N553R |
Missense |
13/13 |
- |
1 |
X-37670115-AC-TG |
c.1658_1659delinsTG |
p.N553M |
Missense |
13/13 |
- |
1 |
X-37670115-A-G |
c.1658A>G |
p.N553S |
Missense |
13/13 |
- |
1 |
X-37670115-A-T |
c.1658A>T |
p.N553I |
Missense |
13/13 |
- |
1 |
X-37670116-C-A |
c.1659C>A |
p.N553K |
Missense |
13/13 |
- |
1 |
X-37670116-C-G |
c.1659C>G |
p.N553K |
Missense |
13/13 |
- |
1 |
X-37670117-T-A |
c.1660T>A |
p.S554T |
Missense |
13/13 |
- |
1 |
X-37670117-T-C |
c.1660T>C |
p.S554P |
Missense |
13/13 |
- |
1 |
X-37670117-TC-AA |
c.1660_1661delinsAA |
p.S554N |
Missense |
13/13 |
- |
1 |
X-37670117-TC-AT |
c.1660_1661delinsAT |
p.S554I |
Missense |
13/13 |
- |
1 |
X-37670117-TC-CA |
c.1660_1661delinsCA |
p.S554H |
Missense |
13/13 |
- |
1 |
X-37670117-TC-CG |
c.1660_1661delinsCG |
p.S554R |
Missense |
13/13 |
- |
1 |
X-37670117-TC-CT |
c.1660_1661delinsCT |
p.S554L |
Missense |
13/13 |
- |
1 |
X-37670117-TC-GA |
c.1660_1661inv |
p.S554D |
Missense |
13/13 |
- |
1 |
X-37670117-TC-GG |
c.1660_1661delinsGG |
p.S554G |
Missense |
13/13 |
- |
1 |
X-37670117-TC-GT |
c.1660_1661delinsGT |
p.S554V |
Missense |
13/13 |
- |
1 |
X-37670117-TCT-AAG |
c.1660_1662delinsAAG |
p.S554K |
Missense |
13/13 |
- |
1 |
X-37670117-TCT-ATG |
c.1660_1662delinsATG |
p.S554M |
Missense |
13/13 |
- |
1 |
X-37670117-TCT-CAA |
c.1660_1662delinsCAA |
p.S554Q |
Missense |
13/13 |
- |
1 |
X-37670117-TCT-GAG |
c.1660_1662delinsGAG |
p.S554E |
Missense |
13/13 |
- |
1 |
X-37670117-T-G |
c.1660T>G |
p.S554A |
Missense |
13/13 |
- |
1 |
X-37670115-ACT-A |
c.1661_1662del |
p.S554* |
Frameshift |
13/13 |
- |
1 |
X-37670118-C-A |
c.1661C>A |
p.S554Y |
Missense |
13/13 |
- |
1 |
X-37670118-C-G |
c.1661C>G |
p.S554C |
Missense |
13/13 |
- |
1 |
X-37670118-C-T |
c.1661C>T |
p.S554F |
Missense |
13/13 |
- |
1 |
X-37670118-CT-AA |
c.1661_1662delinsAA |
p.S554* |
Nonsense |
13/13 |
- |
1 |
X-37670118-CT-GG |
c.1661_1662delinsGG |
p.S554W |
Missense |
13/13 |
- |
1 |
X-37670118-C-CT |
c.1662dup |
p.E555* |
Nonsense |
13/13 |
- |
4 |
X-37670120-G-A |
c.1663G>A |
p.E555K |
Missense |
13/13 |
- |
1 |
X-37670120-GA-AC |
c.1663_1664delinsAC |
p.E555T |
Missense |
13/13 |
- |
1 |
X-37670120-GA-AG |
c.1663_1664delinsAG |
p.E555R |
Missense |
13/13 |
- |
1 |
X-37670120-GA-AT |
c.1663_1664delinsAT |
p.E555M |
Missense |
13/13 |
- |
1 |
X-37670120-GA-CC |
c.1663_1664delinsCC |
p.E555P |
Missense |
13/13 |
- |
1 |
X-37670120-GA-CT |
c.1663_1664delinsCT |
p.E555L |
Missense |
13/13 |
- |
1 |
X-37670120-GAG-AAC |
c.1663_1665delinsAAC |
p.E555N |
Missense |
13/13 |
- |
1 |
X-37670120-GAG-ATC |
c.1663_1665delinsATC |
p.E555I |
Missense |
13/13 |
- |
1 |
X-37670120-GAG-CAT |
c.1663_1665delinsCAT |
p.E555H |
Missense |
13/13 |
- |
1 |
X-37670120-GAG-TAT |
c.1663_1665delinsTAT |
p.E555Y |
Missense |
13/13 |
- |
1 |
X-37670120-GAG-TGT |
c.1663_1665delinsTGT |
p.E555C |
Missense |
13/13 |
- |
1 |
X-37670120-GAG-TTT |
c.1663_1665delinsTTT |
p.E555F |
Missense |
13/13 |
- |
1 |
X-37670120-GA-TC |
c.1663_1664inv |
p.E555S |
Missense |
13/13 |
- |
1 |
X-37670120-GA-TG |
c.1663_1664delinsTG |
p.E555W |
Missense |
13/13 |
- |
1 |
X-37670120-G-C |
c.1663G>C |
p.E555Q |
Missense |
13/13 |
- |
1 |
X-37670120-G-GT |
c.1663_1664insT |
p.E555Vfs*39 |
Frameshift |
13/13 |
- |
1 |
X-37670120-G-GTA |
c.1663_1664insTA |
p.E555Vfs*23 |
Frameshift |
13/13 |
- |
1 |
X-37670120-G-T |
c.1663G>T |
p.E555* |
Nonsense |
13/13 |
- |
1 |
X-37670121-A-C |
c.1664A>C |
p.E555A |
Missense |
13/13 |
- |
1 |
X-37670121-A-G |
c.1664A>G |
p.E555G |
Missense |
13/13 |
- |
1 |
X-37670121-A-T |
c.1664A>T |
p.E555V |
Missense |
13/13 |
- |
1 |
X-37670122-G-C |
c.1665G>C |
p.E555D |
Missense |
13/13 |
- |
1 |
X-37670122-G-T |
c.1665G>T |
p.E555D |
Missense |
13/13 |
- |
1 |
X-37670126-TGGC-T |
c.1669_1671del |
p.G557del |
InFrameDeletion |
13/13 |
- |
1 |
X-37670132-C-A |
c.1675C>A |
p.R559= |
Synonymous |
13/13 |
- |
1 |
X-37670133-G-A |
c.1676G>A |
p.R559Q |
Missense |
13/13 |
- |
1 |
X-37670134-G-A |
c.1677G>A |
p.R559= |
Synonymous |
13/13 |
- |
1 |
X-37670135-G-A |
c.1678G>A |
p.G560R |
Missense |
13/13 |
- |
3 |
X-37670135-G-C |
c.1678G>C |
p.G560R |
Missense |
13/13 |
- |
2 |
X-37670135-G-T |
c.1678G>T |
p.G560* |
Nonsense |
13/13 |
- |
3 |
X-37670132-CG-C |
c.1679del |
p.G560Efs*17 |
Frameshift |
13/13 |
- |
1 |
X-37670136-G-A |
c.1679G>A |
p.G560E |
Missense |
13/13 |
- |
2 |
X-37670137-A-C |
c.1680A>C |
p.G560= |
Synonymous |
13/13 |
- |
1 |
X-37670137-A-G |
c.1680A>G |
p.G560= |
Synonymous |
13/13 |
- |
1 |
X-37670137-A-T |
c.1680A>T |
p.G560= |
Synonymous |
13/13 |
- |
1 |
X-37670138-G-A |
c.1681G>A |
p.V561M |
Missense |
13/13 |
- |
5 |
X-37670139-T-TG |
c.1683dup |
p.H562Afs*32 |
Frameshift |
13/13 |
- |
1 |
X-37670140-G-A |
c.1683G>A |
p.V561= |
Synonymous |
13/13 |
- |
2 |
X-37670140-G-C |
c.1683G>C |
p.V561= |
Synonymous |
13/13 |
- |
1 |
X-37670140-G-T |
c.1683G>T |
p.V561= |
Synonymous |
13/13 |
- |
1 |
X-37670142-A-G |
c.1685A>G |
p.H562R |
Missense |
13/13 |
- |
1 |
X-37670140-GCATTTCATTTT-G |
c.1686_1696del |
p.H562Qfs*28 |
Frameshift |
13/13 |
- |
1 |
X-37670146-C-T |
c.1689C>T |
p.F563= |
Synonymous |
13/13 |
- |
3 |
X-37670147-A-AT |
c.1694dup |
p.N566Qfs*28 |
Frameshift |
13/13 |
- |
1 |
X-37670151-TC-AA |
c.1694_1695delinsAA |
p.F565* |
Nonsense |
13/13 |
- |
1 |
X-37670153-A-G |
c.1696A>G |
p.N566D |
Missense |
13/13 |
- |
1 |
X-37670155-C-A |
c.1698C>A |
p.N566K |
Missense |
13/13 |
- |
1 |
X-37670155-C-G |
c.1698C>G |
p.N566K |
Missense |
13/13 |
- |
1 |
X-37670156-A-C |
c.1699A>C |
p.K567Q |
Missense |
13/13 |
- |
1 |
X-37670158-G-A |
c.1701G>A |
p.K567= |
Synonymous |
13/13 |
- |
3 |
X-37670159-G-A |
c.1702G>A |
p.E568K |
Missense |
13/13 |
- |
13 |
X-37670164-C-T |
c.1707C>T |
p.N569= |
Synonymous |
13/13 |
- |
1 |
X-37670167-C-A |
c.1710C>A |
p.F570L |
Missense |
13/13 |
- |
1 |
X-37670729-T-G |
c.*559T>G |
- |
3-UTRSNV |
13/13 |
- |
7 |