19-38924475-T-A |
c.6T>A |
p.G2= |
Synonymous |
1/106 |
- |
2 |
19-38924475-T-C |
c.6T>C |
p.G2= |
Synonymous |
1/106 |
- |
2 |
19-38924475-T-G |
c.6T>G |
p.G2= |
Synonymous |
1/106 |
- |
2 |
19-38924497-G-A |
c.28G>A |
p.V10I |
Missense |
1/106 |
- |
1 |
19-38924504-TC-AA |
c.35_36delinsAA |
p.F12* |
Nonsense |
1/106 |
- |
1 |
19-38924507-T-G |
c.38T>G |
p.L13R |
Missense |
1/106 |
- |
1 |
19-38924510-G-A |
c.41G>A |
p.R14Q |
Missense |
1/106 |
- |
1 |
19-38924511-G-A |
c.42G>A |
p.R14= |
Synonymous |
1/106 |
- |
1 |
19-38924512-A-G |
c.43A>G |
p.T15A |
Missense |
1/106 |
- |
2 |
19-38931389-GA-G |
c.50del |
p.D17Vfs*101 |
Frameshift |
2/106 |
- |
1 |
19-38931390-T-C |
c.51T>C |
p.D17= |
Synonymous |
2/106 |
- |
1 |
19-38931391-G-A |
c.52G>A |
p.E18K |
Missense |
2/106 |
- |
1 |
19-38931400-CTG-TTT |
c.61_63delinsTTT |
p.L21F |
Missense |
2/106 |
- |
1 |
19-38931408-C-A |
c.69C>A |
p.C23* |
Nonsense |
2/106 |
- |
1 |
19-38931413-C-A |
c.74C>A |
p.A25D |
Missense |
2/106 |
- |
2 |
19-38931428-A-T |
c.89A>T |
p.E30V |
Missense |
2/106 |
- |
1 |
19-38931432-AG-A |
c.93del |
p.Q31Hfs*87 |
Frameshift |
2/106 |
- |
1 |
19-38931433-C-T |
c.94C>T |
p.L32F |
Missense |
2/106 |
- |
1 |
19-38931442-T-C |
c.103T>C |
p.C35R |
Missense |
2/106 |
- |
14 |
19-38931449-C-A |
c.110C>A |
p.A37D |
Missense |
2/106 |
- |
1 |
19-38931451-GC-TG |
c.112_113delinsTG |
p.A38C |
Missense |
2/106 |
- |
1 |
19-38931452-C-A |
c.113C>A |
p.A38D |
Missense |
2/106 |
- |
1 |
19-38931452-CC-AG |
c.113_114delinsAG |
p.A38E |
Missense |
2/106 |
- |
1 |
19-38931457-GGC-TGA |
c.118_120delinsTGA |
p.G40* |
Nonsense |
2/106 |
- |
1 |
19-38931458-G-C |
c.119G>C |
p.G40A |
Missense |
2/106 |
- |
1 |
19-38931461-T-C |
c.122T>C |
p.F41S |
Missense |
2/106 |
- |
2 |
19-38931469-C-T |
c.130C>T |
p.R44C |
Missense |
2/106 |
- |
8 |
19-38931476-G-A |
c.137G>A |
p.C46Y |
Missense |
2/106 |
- |
1 |
19-38931476-G-T |
c.137G>T |
p.C46F |
Missense |
2/106 |
- |
1 |
19-38931477-C-A |
c.138C>A |
p.C46* |
Nonsense |
2/106 |
- |
1 |
19-38931490-ACT-TAA |
c.151_153delinsTAA |
p.T51* |
Nonsense |
2/106 |
- |
1 |
19-38931493-AG-GC |
c.154_155delinsGC |
p.S52A |
Missense |
2/106 |
- |
1 |
19-38931497-A-G |
c.158A>G |
p.N53S |
Missense |
2/106 |
- |
1 |
19-38931497-A-T |
c.158A>T |
p.N53I |
Missense |
2/106 |
- |
1 |
19-38931499-G-A |
c.160G>A |
p.A54T |
Missense |
2/106 |
- |
1 |
19-38931502-C-T |
c.163C>T |
p.Q55* |
Nonsense |
2/106 |
- |
1 |
19-38931509-G-A |
c.165+5G>A |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38933001-G-A |
c.178G>A |
p.D60N |
Missense |
3/106 |
- |
1 |
19-38933001-G-T |
c.178G>T |
p.D60Y |
Missense |
3/106 |
- |
1 |
19-38933002-A-G |
c.179A>G |
p.D60G |
Missense |
3/106 |
- |
1 |
19-38933006-G-C |
c.183G>C |
p.L61= |
Synonymous |
3/106 |
- |
1 |
19-38933010-ATC-TAA |
c.187_189delinsTAA |
p.I63* |
Nonsense |
3/106 |
- |
1 |
19-38933015-T-A |
c.192T>A |
p.C64* |
Nonsense |
3/106 |
- |
1 |
19-38933018-C-A |
c.195C>A |
p.C65* |
Nonsense |
3/106 |
- |
1 |
19-38933031-C-T |
c.208C>T |
p.Q70* |
Nonsense |
3/106 |
- |
1 |
19-38933035-C-A |
c.212C>A |
p.S71Y |
Missense |
3/106 |
- |
4 |
19-38933043-G-T |
c.220G>T |
p.V74L |
Missense |
3/106 |
- |
1 |
19-38933046-C-T |
c.223C>T |
p.R75* |
Nonsense |
3/106 |
- |
1 |
19-38933047-G-A |
c.224G>A |
p.R75Q |
Missense |
3/106 |
- |
2 |
19-38933062-T-C |
c.239T>C |
p.M80T |
Missense |
3/106 |
- |
1 |
19-38933067-GC-TG |
c.244_245delinsTG |
p.A82C |
Missense |
3/106 |
- |
1 |
19-38933074-C-T |
c.251C>T |
p.T84M |
Missense |
3/106 |
- |
5 |
19-38933088-G-A |
c.265G>A |
p.V89M |
Missense |
3/106 |
- |
2 |
19-38934209-C-T |
c.282C>T |
p.G94= |
Synonymous |
4/106 |
- |
1 |
19-38934210-G-A |
c.283G>A |
p.G95R |
Missense |
4/106 |
- |
1 |
19-38934234-G-C |
c.307G>C |
p.G103R |
Missense |
4/106 |
- |
1 |
19-38934236-GCCAT-G |
c.309_312del |
p.H104Pfs*13 |
Frameshift |
4/106 |
- |
1 |
19-38934252-C-T |
c.325C>T |
p.R109W |
Missense |
4/106 |
- |
15 |
19-38934255-C-T |
c.328C>T |
p.H110Y |
Missense |
4/106 |
- |
1 |
19-38934262-A-G |
c.335A>G |
p.H112R |
Missense |
4/106 |
- |
1 |
19-38934268-G-A |
c.341G>A |
p.R114H |
Missense |
4/106 |
- |
1 |
19-38934373-AC-GG |
c.361_362delinsGG |
p.T121G |
Missense |
5/106 |
- |
1 |
19-38934373-AC-A |
c.363del |
p.T122Pfs*5 |
Frameshift |
5/106 |
- |
1 |
19-38934376-A-C |
c.364A>C |
p.T122P |
Missense |
5/106 |
- |
1 |
19-38934428-A-G |
c.416A>G |
p.D139G |
Missense |
5/106 |
- |
1 |
19-38934434-CA-TG |
c.422_423inv |
p.T141M |
Missense |
5/106 |
- |
1 |
19-38934788-G-A |
c.425-1G>A |
- |
IntronicSNV |
- |
5/105 |
1 |
19-38934789-GA-AC |
c.425_426delinsAC |
p.G142D |
Missense |
6/106 |
- |
3 |
19-38934791-G-T |
c.427G>T |
p.E143* |
Nonsense |
6/106 |
- |
1 |
19-38934797-TG-GC |
c.433_434delinsGC |
p.C145A |
Missense |
6/106 |
- |
1 |
19-38934816-C-T |
c.452C>T |
p.P151L |
Missense |
6/106 |
- |
1 |
19-38934819-C-A |
c.455C>A |
p.A152D |
Missense |
6/106 |
- |
1 |
19-38934827-C-A |
c.463C>A |
p.Q155K |
Missense |
6/106 |
- |
1 |
19-38934828-A-C |
c.464A>C |
p.Q155P |
Missense |
6/106 |
- |
1 |
19-38934831-G-A |
c.467G>A |
p.R156K |
Missense |
6/106 |
- |
2 |
19-38934835-TGAA-T |
c.473_475del |
p.E158del |
InFrameDeletion |
6/106 |
- |
1 |
19-38934843-A-G |
c.479A>G |
p.E160G |
Missense |
6/106 |
- |
1 |
19-38934847-G-A |
c.483G>A |
p.K161= |
Synonymous |
6/106 |
- |
1 |
19-38934848-G-A |
c.484G>A |
p.V162I |
Missense |
6/106 |
- |
1 |
19-38934851-C-A |
c.487C>A |
p.R163S |
Missense |
6/106 |
- |
1 |
19-38934851-C-T |
c.487C>T |
p.R163C |
Missense |
6/106 |
- |
64 |
19-38934852-G-A |
c.488G>A |
p.R163H |
Missense |
6/106 |
- |
3 |
19-38934852-G-T |
c.488G>T |
p.R163L |
Missense |
6/106 |
- |
10 |
19-38934854-G-A |
c.490G>A |
p.V164I |
Missense |
6/106 |
- |
1 |
19-38934854-G-T |
c.490G>T |
p.V164F |
Missense |
6/106 |
- |
1 |
19-38934861-GAT-G |
c.497_498del |
p.D166Gfs*25 |
Frameshift |
6/106 |
- |
1 |
19-38934863-G-A |
c.499G>A |
p.D167N |
Missense |
6/106 |
- |
1 |
19-38934864-A-G |
c.500A>G |
p.D167G |
Missense |
6/106 |
- |
1 |
19-38934884-T-G |
c.520T>G |
p.S174A |
Missense |
6/106 |
- |
1 |
19-38934893-C-T |
c.529C>T |
p.R177C |
Missense |
6/106 |
- |
4 |
19-38934895-C-A |
c.531C>A |
p.R177= |
Synonymous |
6/106 |
- |
1 |
19-38934895-C-G |
c.531C>G |
p.R177= |
Synonymous |
6/106 |
- |
1 |
19-38934895-C-T |
c.531C>T |
p.R177= |
Synonymous |
6/106 |
- |
1 |
19-38935230-T-G |
c.544T>G |
p.S182A |
Missense |
7/106 |
- |
1 |
19-38935236-G-A |
c.550G>A |
p.A184T |
Missense |
7/106 |
- |
2 |
19-38935236-G-T |
c.550G>T |
p.A184S |
Missense |
7/106 |
- |
1 |
19-38935255-T-A |
c.569T>A |
p.V190D |
Missense |
7/106 |
- |
1 |
19-38935255-T-C |
c.569T>C |
p.V190A |
Missense |
7/106 |
- |
1 |
19-38935260-G-C |
c.574G>C |
p.A192P |
Missense |
7/106 |
- |
1 |
19-38935265-C-A |
c.579C>A |
p.S193= |
Synonymous |
7/106 |
- |
1 |
19-38935265-C-G |
c.579C>G |
p.S193= |
Synonymous |
7/106 |
- |
1 |
19-38935265-C-T |
c.579C>T |
p.S193= |
Synonymous |
7/106 |
- |
1 |
19-38935278-C-T |
c.592C>T |
p.L198= |
Synonymous |
7/106 |
- |
1 |
19-38935280-A-C |
c.594A>C |
p.L198= |
Synonymous |
7/106 |
- |
1 |
19-38935280-A-G |
c.594A>G |
p.L198= |
Synonymous |
7/106 |
- |
5 |
19-38935280-A-T |
c.594A>T |
p.L198= |
Synonymous |
7/106 |
- |
1 |
19-38935282-G-T |
c.596G>T |
p.W199L |
Missense |
7/106 |
- |
1 |
19-38935287-AT-TA |
c.601_602delinsTA |
p.M201* |
Nonsense |
7/106 |
- |
1 |
19-38935300-G-C |
c.614G>C |
p.C205S |
Missense |
7/106 |
- |
1 |
19-38935303-C-A |
c.617C>A |
p.S206Y |
Missense |
7/106 |
- |
1 |
19-38935305-C-T |
c.619C>T |
p.R207C |
Missense |
7/106 |
- |
1 |
19-38935306-GC-AA |
c.620_621delinsAA |
p.R207Q |
Missense |
7/106 |
- |
1 |
19-38935311-G-A |
c.625G>A |
p.E209K |
Missense |
7/106 |
- |
1 |
19-38935318-G-A |
c.631+1G>A |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38937121-C-T |
c.641C>T |
p.T214M |
Missense |
8/106 |
- |
5 |
19-38937124-G-A |
c.644G>A |
p.G215E |
Missense |
8/106 |
- |
1 |
19-38937127-GT-AG |
c.647_648delinsAG |
p.G216E |
Missense |
8/106 |
- |
1 |
19-38937132-G-A |
c.652G>A |
p.V218I |
Missense |
8/106 |
- |
1 |
19-38937138-C-T |
c.658C>T |
p.R220C |
Missense |
8/106 |
- |
3 |
19-38937139-G-A |
c.659G>A |
p.R220H |
Missense |
8/106 |
- |
1 |
19-38937141-C-T |
c.661C>T |
p.L221F |
Missense |
8/106 |
- |
1 |
19-38937141-CTC-AAG |
c.661_663delinsAAG |
p.L221K |
Missense |
8/106 |
- |
1 |
19-38937157-T-A |
c.677T>A |
p.M226K |
Missense |
8/106 |
- |
2 |
19-38937160-A-T |
c.680A>T |
p.D227V |
Missense |
8/106 |
- |
1 |
19-38937200-G-T |
c.720G>T |
p.Q240H |
Missense |
8/106 |
- |
1 |
19-38937336-T-C |
c.728T>C |
p.L243P |
Missense |
9/106 |
- |
1 |
19-38937338-G-A |
c.730G>A |
p.V244I |
Missense |
9/106 |
- |
1 |
19-38937340-TC-T |
c.732del |
p.Y245Tfs*20 |
Frameshift |
9/106 |
- |
1 |
19-38937345-A-G |
c.737A>G |
p.Y246C |
Missense |
9/106 |
- |
1 |
19-38937347-G-A |
c.739G>A |
p.E247K |
Missense |
9/106 |
- |
1 |
19-38937350-G-A |
c.742G>A |
p.G248R |
Missense |
9/106 |
- |
11 |
19-38937350-G-C |
c.742G>C |
p.G248R |
Missense |
9/106 |
- |
12 |
19-38937350-G-T |
c.742G>T |
p.G248W |
Missense |
9/106 |
- |
3 |
19-38937353-G-A |
c.745G>A |
p.G249R |
Missense |
9/106 |
- |
3 |
19-38937353-G-C |
c.745G>C |
p.G249R |
Missense |
9/106 |
- |
3 |
19-38937373-C-A |
c.765C>A |
p.A255= |
Synonymous |
9/106 |
- |
1 |
19-38937375-G-A |
c.767G>A |
p.R256H |
Missense |
9/106 |
- |
1 |
19-38937392-G-C |
c.784G>C |
p.E262Q |
Missense |
9/106 |
- |
1 |
19-38937392-G-T |
c.784G>T |
p.E262* |
Nonsense |
9/106 |
- |
1 |
19-38937401-A-G |
c.793A>G |
p.R265G |
Missense |
9/106 |
- |
1 |
19-38937405-T-C |
c.797T>C |
p.I266T |
Missense |
9/106 |
- |
1 |
19-38938997-G-A |
c.803G>A |
p.W268* |
Nonsense |
10/106 |
- |
1 |
19-38939006-G-A |
c.812G>A |
p.S271N |
Missense |
10/106 |
- |
1 |
19-38939012-T-C |
c.818T>C |
p.L273P |
Missense |
10/106 |
- |
1 |
19-38939014-C-T |
c.820C>T |
p.R274C |
Missense |
10/106 |
- |
1 |
19-38939015-G-A |
c.821G>A |
p.R274H |
Missense |
10/106 |
- |
4 |
19-38939015-G-C |
c.821G>C |
p.R274P |
Missense |
10/106 |
- |
2 |
19-38939015-GC-AA |
c.821_822delinsAA |
p.R274Q |
Missense |
10/106 |
- |
1 |
19-38939015-G-T |
c.821G>T |
p.R274L |
Missense |
10/106 |
- |
2 |
19-38939032-C-T |
c.838C>T |
p.R280* |
Nonsense |
10/106 |
- |
3 |
19-38939042-A-G |
c.848A>G |
p.H283R |
Missense |
10/106 |
- |
3 |
19-38939056-GCA-G |
c.862_863del |
p.Q288Vfs*14 |
Frameshift |
10/106 |
- |
1 |
19-38939060-A-G |
c.866A>G |
p.Y289C |
Missense |
10/106 |
- |
1 |
19-38939066-C-T |
c.872C>T |
p.A291V |
Missense |
10/106 |
- |
1 |
19-38939074-G-A |
c.880G>A |
p.E294K |
Missense |
10/106 |
- |
2 |
19-38939075-A-T |
c.881A>T |
p.E294V |
Missense |
10/106 |
- |
1 |
19-38939083-G-C |
c.889G>C |
p.G297R |
Missense |
10/106 |
- |
1 |
19-38939089-G-C |
c.895G>C |
p.V299L |
Missense |
10/106 |
- |
1 |
19-38939089-G-T |
c.895G>T |
p.V299L |
Missense |
10/106 |
- |
1 |
19-38939110-G-A |
c.916G>A |
p.A306T |
Missense |
10/106 |
- |
1 |
19-38939118-C-A |
c.924C>A |
p.T308= |
Synonymous |
10/106 |
- |
1 |
19-38939127-C-A |
c.933C>A |
p.T311= |
Synonymous |
10/106 |
- |
1 |
19-38939127-C-G |
c.933C>G |
p.T311= |
Synonymous |
10/106 |
- |
1 |
19-38939127-C-T |
c.933C>T |
p.T311= |
Synonymous |
10/106 |
- |
1 |
19-38939132-TC-AA |
c.938_939delinsAA |
p.F313* |
Nonsense |
10/106 |
- |
1 |
19-38939138-TC-AA |
c.944_945delinsAA |
p.F315* |
Nonsense |
10/106 |
- |
1 |
19-38939141-G-A |
c.947G>A |
p.R316H |
Missense |
10/106 |
- |
2 |
19-38939141-G-T |
c.947G>T |
p.R316L |
Missense |
10/106 |
- |
1 |
19-38939152-GTCAGTGGGGTTTGTGGCGCCCTCCC-G |
c.957+5_957+29del |
- |
IntronicDeletion |
- |
10/105 |
2 |
19-38939290-A-T |
c.959A>T |
p.E320V |
Missense |
11/106 |
- |
1 |
19-38939313-C-A |
c.982C>A |
p.R328= |
Synonymous |
11/106 |
- |
1 |
19-38939313-C-T |
c.982C>T |
p.R328W |
Missense |
11/106 |
- |
6 |
19-38939332-G-GC |
c.1007dup |
p.E337* |
Nonsense |
11/106 |
- |
1 |
19-38939339-T-TG |
c.1009dup |
p.E337Gfs*168 |
Frameshift |
11/106 |
- |
1 |
19-38939343-A-G |
c.1012A>G |
p.I338V |
Missense |
11/106 |
- |
1 |
19-38939352-G-A |
c.1021G>A |
p.G341R |
Missense |
11/106 |
- |
22 |
19-38939352-G-C |
c.1021G>C |
p.G341R |
Missense |
11/106 |
- |
10 |
19-38939355-G-A |
c.1024G>A |
p.E342K |
Missense |
11/106 |
- |
2 |
19-38939370-G-A |
c.1039G>A |
p.V347M |
Missense |
11/106 |
- |
1 |
19-38939395-G-A |
c.1064G>A |
p.W355* |
Nonsense |
11/106 |
- |
2 |
19-38939408-T-A |
c.1077T>A |
p.A359= |
Synonymous |
11/106 |
- |
1 |
19-38939408-T-C |
c.1077T>C |
p.A359= |
Synonymous |
11/106 |
- |
1 |
19-38939408-T-G |
c.1077T>G |
p.A359= |
Synonymous |
11/106 |
- |
2 |
19-38939413-CA-AT |
c.1082_1083delinsAT |
p.P361H |
Missense |
11/106 |
- |
1 |
19-38939431-G-A |
c.1100G>A |
p.R367Q |
Missense |
11/106 |
- |
1 |
19-38939431-G-T |
c.1100G>T |
p.R367L |
Missense |
11/106 |
- |
2 |
19-38939439-G-A |
c.1108G>A |
p.V370M |
Missense |
11/106 |
- |
1 |
19-38939505-T-C |
c.1122+52T>C |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38942406-C-A |
c.1125C>A |
p.A375= |
Synonymous |
12/106 |
- |
1 |
19-38942406-C-G |
c.1125C>G |
p.A375= |
Synonymous |
12/106 |
- |
1 |
19-38942406-C-T |
c.1125C>T |
p.A375= |
Synonymous |
12/106 |
- |
1 |
19-38942434-G-A |
c.1153G>A |
p.D385N |
Missense |
12/106 |
- |
1 |
19-38942437-G-A |
c.1156G>A |
p.A386T |
Missense |
12/106 |
- |
1 |
19-38942453-G-C |
c.1172G>C |
p.R391P |
Missense |
12/106 |
- |
1 |
19-38942467-G-T |
c.1186G>T |
p.E396* |
Nonsense |
12/106 |
- |
1 |
19-38942472-C-T |
c.1191C>T |
p.S397= |
Synonymous |
12/106 |
- |
1 |
19-38942482-C-G |
c.1201C>G |
p.R401G |
Missense |
12/106 |
- |
1 |
19-38942482-C-T |
c.1201C>T |
p.R401C |
Missense |
12/106 |
- |
10 |
19-38942483-G-A |
c.1202G>A |
p.R401H |
Missense |
12/106 |
- |
5 |
19-38942483-G-T |
c.1202G>T |
p.R401L |
Missense |
12/106 |
- |
1 |
19-38942486-T-C |
c.1205T>C |
p.M402T |
Missense |
12/106 |
- |
2 |
19-38942490-C-G |
c.1209C>G |
p.I403M |
Missense |
12/106 |
- |
10 |
19-38942490-C-T |
c.1209C>T |
p.I403= |
Synonymous |
12/106 |
- |
1 |
19-38942492-A-AC |
c.1212dup |
p.S405Qfs*100 |
Frameshift |
12/106 |
- |
1 |
19-38942499-C-A |
c.1218C>A |
p.T406= |
Synonymous |
12/106 |
- |
1 |
19-38942499-C-G |
c.1218C>G |
p.T406= |
Synonymous |
12/106 |
- |
1 |
19-38942499-C-T |
c.1218C>T |
p.T406= |
Synonymous |
12/106 |
- |
1 |
19-38943464-T-C |
c.1250T>C |
p.L417P |
Missense |
13/106 |
- |
2 |
19-38943479-GG-AC |
c.1265_1266delinsAC |
p.G422D |
Missense |
13/106 |
- |
1 |
19-38943479-G-T |
c.1265G>T |
p.G422V |
Missense |
13/106 |
- |
1 |
19-38943488-G-A |
c.1274G>A |
p.R425Q |
Missense |
13/106 |
- |
1 |
19-38943500-C-T |
c.1286C>T |
p.P429L |
Missense |
13/106 |
- |
1 |
19-38943512-C-A |
c.1298C>A |
p.T433K |
Missense |
13/106 |
- |
1 |
19-38943521-C-G |
c.1307C>G |
p.P436R |
Missense |
13/106 |
- |
1 |
19-38943526-G-A |
c.1312G>A |
p.E438K |
Missense |
13/106 |
- |
1 |
19-38943532-G-A |
c.1318G>A |
p.V440I |
Missense |
13/106 |
- |
1 |
19-38943532-GTT-ATG |
c.1318_1320delinsATG |
p.V440M |
Missense |
13/106 |
- |
1 |
19-38943574-C-T |
c.1360C>T |
p.P454S |
Missense |
13/106 |
- |
1 |
19-38943580-G-A |
c.1366G>A |
p.E456K |
Missense |
13/106 |
- |
1 |
19-38943586-TTG-CAT |
c.1372_1374delinsCAT |
p.L458H |
Missense |
13/106 |
- |
2 |
19-38943587-T-A |
c.1373T>A |
p.L458* |
Nonsense |
13/106 |
- |
1 |
19-38943593-A-G |
c.1379A>G |
p.H460R |
Missense |
13/106 |
- |
1 |
19-38943605-A-G |
c.1391A>G |
p.Q464R |
Missense |
13/106 |
- |
1 |
19-38943607-AGC-TGA |
c.1393_1395delinsTGA |
p.S465* |
Nonsense |
13/106 |
- |
1 |
19-38943728-G-A |
c.1440+74G>A |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38945851-T-C |
c.1441-24T>C |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38945887-A-G |
c.1453A>G |
p.M485V |
Missense |
14/106 |
- |
8 |
19-38945887-AT-TA |
c.1453_1454delinsTA |
p.M485* |
Nonsense |
14/106 |
- |
1 |
19-38945887-AT-TG |
c.1453_1454delinsTG |
p.M485W |
Missense |
14/106 |
- |
1 |
19-38945894-T-C |
c.1460T>C |
p.L487P |
Missense |
14/106 |
- |
1 |
19-38945901-C-T |
c.1467C>T |
p.C489= |
Synonymous |
14/106 |
- |
1 |
19-38945908-C-G |
c.1474C>G |
p.R492G |
Missense |
14/106 |
- |
1 |
19-38945908-C-T |
c.1474C>T |
p.R492C |
Missense |
14/106 |
- |
1 |
19-38945909-G-A |
c.1475G>A |
p.R492H |
Missense |
14/106 |
- |
1 |
19-38945909-G-T |
c.1475G>T |
p.R492L |
Missense |
14/106 |
- |
1 |
19-38945950-G-A |
c.1516G>A |
p.A506T |
Missense |
14/106 |
- |
1 |
19-38945954-G-A |
c.1520G>A |
p.G507E |
Missense |
14/106 |
- |
1 |
19-38945956-G-C |
c.1522G>C |
p.E508Q |
Missense |
14/106 |
- |
1 |
19-38945968-G-A |
c.1534G>A |
p.E512K |
Missense |
14/106 |
- |
3 |
19-38945987-T-C |
c.1553T>C |
p.V518A |
Missense |
14/106 |
- |
1 |
19-38945999-A-C |
c.1565A>C |
p.Y522S |
Missense |
14/106 |
- |
85 |
19-38945999-A-G |
c.1565A>G |
p.Y522C |
Missense |
14/106 |
- |
3 |
19-38946000-T-C |
c.1566T>C |
p.Y522= |
Synonymous |
14/106 |
- |
1 |
19-38946008-T-A |
c.1574T>A |
p.L525Q |
Missense |
14/106 |
- |
1 |
19-38946101-C-A |
c.1587C>A |
p.I529= |
Synonymous |
15/106 |
- |
1 |
19-38946101-C-T |
c.1587C>T |
p.I529= |
Synonymous |
15/106 |
- |
1 |
19-38946103-G-A |
c.1589G>A |
p.R530H |
Missense |
15/106 |
- |
17 |
19-38946103-G-T |
c.1589G>T |
p.R530L |
Missense |
15/106 |
- |
3 |
19-38946111-C-A |
c.1597C>A |
p.R533S |
Missense |
15/106 |
- |
1 |
19-38946111-C-G |
c.1597C>G |
p.R533G |
Missense |
15/106 |
- |
1 |
19-38946111-C-T |
c.1597C>T |
p.R533C |
Missense |
15/106 |
- |
6 |
19-38946112-G-A |
c.1598G>A |
p.R533H |
Missense |
15/106 |
- |
9 |
19-38946118-A-G |
c.1604A>G |
p.N535S |
Missense |
15/106 |
- |
1 |
19-38946123-G-A |
c.1609G>A |
p.A537T |
Missense |
15/106 |
- |
1 |
19-38946129-T-G |
c.1615T>G |
p.F539V |
Missense |
15/106 |
- |
1 |
19-38946152-TGG-T |
c.1638_1639del |
p.V547Qfs*22 |
Frameshift |
15/106 |
- |
1 |
19-38946154-T-C |
c.1640T>C |
p.V547A |
Missense |
15/106 |
- |
2 |
19-38946168-C-T |
c.1654C>T |
p.R552W |
Missense |
15/106 |
- |
10 |
19-38946169-G-A |
c.1655G>A |
p.R552Q |
Missense |
15/106 |
- |
1 |
19-38946182-G-A |
c.1668G>A |
p.S556= |
Synonymous |
15/106 |
- |
3 |
19-38946182-G-C |
c.1668G>C |
p.S556= |
Synonymous |
15/106 |
- |
1 |
19-38946182-G-T |
c.1668G>T |
p.S556= |
Synonymous |
15/106 |
- |
1 |
19-38946274-C-CA |
c.1675dup |
p.I559Nfs*11 |
Frameshift |
16/106 |
- |
1 |
19-38946278-C-G |
c.1678C>G |
p.L560V |
Missense |
16/106 |
- |
1 |
19-38946290-T-C |
c.1690T>C |
p.Y564H |
Missense |
16/106 |
- |
1 |
19-38946299-C-T |
c.1699C>T |
p.L567F |
Missense |
16/106 |
- |
1 |
19-38946320-C-G |
c.1720C>G |
p.L574V |
Missense |
16/106 |
- |
1 |
19-38946341-C-CA |
c.1742dup |
p.H581Qfs*29 |
Frameshift |
16/106 |
- |
1 |
19-38946344-A-G |
c.1744A>G |
p.I582V |
Missense |
16/106 |
- |
1 |
19-38946350-T-A |
c.1750T>A |
p.S584T |
Missense |
16/106 |
- |
1 |
19-38946368-G-A |
c.1768G>A |
p.D590N |
Missense |
16/106 |
- |
1 |
19-38946378-G-A |
c.1778G>A |
p.G593E |
Missense |
16/106 |
- |
1 |
19-38948155-T-A |
c.1810T>A |
p.S604T |
Missense |
17/106 |
- |
1 |
19-38948162-G-A |
c.1817G>A |
p.C606Y |
Missense |
17/106 |
- |
2 |
19-38948175-T-TG |
c.1831dup |
p.V611Gfs*12 |
Frameshift |
17/106 |
- |
1 |
19-38948178-G-A |
c.1833G>A |
p.V611= |
Synonymous |
17/106 |
- |
1 |
19-38948178-G-C |
c.1833G>C |
p.V611= |
Synonymous |
17/106 |
- |
1 |
19-38948178-G-T |
c.1833G>T |
p.V611= |
Synonymous |
17/106 |
- |
1 |
19-38948185-C-G |
c.1840C>G |
p.R614G |
Missense |
17/106 |
- |
2 |
19-38948185-C-T |
c.1840C>T |
p.R614C |
Missense |
17/106 |
- |
42 |
19-38948186-G-A |
c.1841G>A |
p.R614H |
Missense |
17/106 |
- |
1 |
19-38948186-G-T |
c.1841G>T |
p.R614L |
Missense |
17/106 |
- |
9 |
19-38948227-C-T |
c.1882C>T |
p.R628C |
Missense |
17/106 |
- |
1 |
19-38948228-G-A |
c.1883G>A |
p.R628H |
Missense |
17/106 |
- |
2 |
19-38948242-C-A |
c.1897C>A |
p.Q633K |
Missense |
17/106 |
- |
1 |
19-38948242-C-T |
c.1897C>T |
p.Q633* |
Nonsense |
17/106 |
- |
1 |
19-38948254-A-G |
c.1909A>G |
p.I637V |
Missense |
17/106 |
- |
1 |
19-38948268-C-A |
c.1923C>A |
p.T641= |
Synonymous |
17/106 |
- |
1 |
19-38948268-C-G |
c.1923C>G |
p.T641= |
Synonymous |
17/106 |
- |
1 |
19-38948268-C-T |
c.1923C>T |
p.T641= |
Synonymous |
17/106 |
- |
1 |
19-38948356-T-C |
c.1925+86T>C |
- |
IntronicSNV |
- |
17/105 |
1 |
19-38948695-C-T |
c.1930C>T |
p.R644C |
Missense |
18/106 |
- |
1 |
19-38948696-G-A |
c.1931G>A |
p.R644H |
Missense |
18/106 |
- |
1 |
19-38948704-A-T |
c.1939A>T |
p.I647F |
Missense |
18/106 |
- |
1 |
19-38948716-CGA-TGT |
c.1951_1953delinsTGT |
p.R651C |
Missense |
18/106 |
- |
1 |
19-38948720-C-T |
c.1955C>T |
p.A652V |
Missense |
18/106 |
- |
1 |
19-38948723-A-G |
c.1958A>G |
p.E653G |
Missense |
18/106 |
- |
1 |
19-38948732-C-T |
c.1967C>T |
p.T656M |
Missense |
18/106 |
- |
1 |
19-38948747-G-A |
c.1982G>A |
p.W661* |
Nonsense |
18/106 |
- |
1 |
19-38948756-AG-A |
c.1993del |
p.V665* |
Frameshift |
18/106 |
- |
1 |
19-38948763-G-T |
c.1998G>T |
p.M666I |
Missense |
18/106 |
- |
1 |
19-38948800-AC-A |
c.2038del |
p.H680Tfs*50 |
Frameshift |
18/106 |
- |
1 |
19-38948809-C-G |
c.2044C>G |
p.R682G |
Missense |
18/106 |
- |
1 |
19-38948809-C-T |
c.2044C>T |
p.R682W |
Missense |
18/106 |
- |
1 |
19-38948810-G-C |
c.2045G>C |
p.R682P |
Missense |
18/106 |
- |
1 |
19-38948856-C-A |
c.2091C>A |
p.A697= |
Synonymous |
18/106 |
- |
1 |
19-38948856-C-G |
c.2091C>G |
p.A697= |
Synonymous |
18/106 |
- |
1 |
19-38948856-C-T |
c.2091C>T |
p.A697= |
Synonymous |
18/106 |
- |
1 |
19-38948860-GAG-AAC |
c.2095_2097delinsAAC |
p.E699N |
Missense |
18/106 |
- |
1 |
19-38948855-CCGGCGAGGGCTGGGGCGGCAACGGGGT-C |
c.2097_2123del |
p.E699_G707del |
InFrameDeletion |
18/106 |
- |
1 |
19-38948862-G-C |
c.2097G>C |
p.E699D |
Missense |
18/106 |
- |
1 |
19-38948862-G-T |
c.2097G>T |
p.E699D |
Missense |
18/106 |
- |
1 |
19-38948878-G-C |
c.2113G>C |
p.G705R |
Missense |
18/106 |
- |
1 |
19-38948882-TCGG-T |
c.2120_2122del |
p.G707del |
InFrameDeletion |
18/106 |
- |
1 |
19-38948886-C-A |
c.2121C>A |
p.G707= |
Synonymous |
18/106 |
- |
1 |
19-38948886-C-G |
c.2121C>G |
p.G707= |
Synonymous |
18/106 |
- |
1 |
19-38948886-C-T |
c.2121C>T |
p.G707= |
Synonymous |
18/106 |
- |
1 |
19-38948887-G-A |
c.2122G>A |
p.D708N |
Missense |
18/106 |
- |
6 |
19-38948890-G-T |
c.2125G>T |
p.D709Y |
Missense |
18/106 |
- |
1 |
19-38948914-G-T |
c.2149G>T |
p.G717* |
Nonsense |
18/106 |
- |
1 |
19-38949729-T-G |
c.2168-57T>G |
- |
IntronicSNV |
- |
18/105 |
1 |
19-38949786-G-A |
c.2168G>A |
p.G723E |
Missense |
19/106 |
- |
1 |
19-38949797-C-T |
c.2179C>T |
p.R727C |
Missense |
19/106 |
- |
1 |
19-38949842-G-A |
c.2224G>A |
p.V742M |
Missense |
19/106 |
- |
1 |
19-38949847-C-T |
c.2229C>T |
p.I743= |
Synonymous |
19/106 |
- |
1 |
19-38949857-C-T |
c.2239C>T |
p.L747= |
Synonymous |
19/106 |
- |
1 |
19-38949859-G-A |
c.2241G>A |
p.L747= |
Synonymous |
19/106 |
- |
1 |
19-38949859-G-C |
c.2241G>C |
p.L747= |
Synonymous |
19/106 |
- |
1 |
19-38949859-G-T |
c.2241G>T |
p.L747= |
Synonymous |
19/106 |
- |
1 |
19-38949867-G-A |
c.2249G>A |
p.S750N |
Missense |
19/106 |
- |
1 |
19-38949893-A-G |
c.2275A>G |
p.N759D |
Missense |
19/106 |
- |
1 |
19-38949900-GC-G |
c.2286del |
p.V763Cfs*121 |
Frameshift |
19/106 |
- |
1 |
19-38949904-C-A |
c.2286C>A |
p.P762= |
Synonymous |
19/106 |
- |
1 |
19-38949904-C-G |
c.2286C>G |
p.P762= |
Synonymous |
19/106 |
- |
1 |
19-38949904-C-T |
c.2286C>T |
p.P762= |
Synonymous |
19/106 |
- |
3 |
19-38949905-G-A |
c.2287G>A |
p.V763M |
Missense |
19/106 |
- |
1 |
19-38949906-T-A |
c.2288T>A |
p.V763E |
Missense |
19/106 |
- |
1 |
19-38949910-G-C |
c.2292G>C |
p.Q764H |
Missense |
19/106 |
- |
1 |
19-38949922-G-C |
c.2304G>C |
p.E768D |
Missense |
19/106 |
- |
1 |
19-38949938-G-A |
c.2320G>A |
p.G774R |
Missense |
19/106 |
- |
1 |
19-38949938-G-C |
c.2320G>C |
p.G774R |
Missense |
19/106 |
- |
1 |
19-38949943-C-G |
c.2325C>G |
p.L775= |
Synonymous |
19/106 |
- |
1 |
19-38950947-C-T |
c.2361-68C>T |
- |
IntronicSNV |
- |
19/105 |
1 |
19-38951013-AG-A |
c.2362del |
p.V788Cfs*96 |
Frameshift |
20/106 |
- |
2 |
19-38951019-C-T |
c.2365C>T |
p.R789W |
Missense |
20/106 |
- |
1 |
19-38951020-G-A |
c.2366G>A |
p.R789Q |
Missense |
20/106 |
- |
2 |
19-38951037-C-T |
c.2383C>T |
p.R795C |
Missense |
20/106 |
- |
2 |
19-38951051-C-A |
c.2397C>A |
p.F799L |
Missense |
20/106 |
- |
1 |
19-38951082-T-A |
c.2428T>A |
p.C810S |
Missense |
20/106 |
- |
1 |
19-38951086-A-T |
c.2432A>T |
p.H811L |
Missense |
20/106 |
- |
1 |
19-38951090-G-A |
c.2436G>A |
p.E812= |
Synonymous |
20/106 |
- |
1 |
19-38951094-G-T |
c.2440G>T |
p.V814L |
Missense |
20/106 |
- |
1 |
19-38951099-C-T |
c.2445C>T |
p.L815= |
Synonymous |
20/106 |
- |
1 |
19-38951100-C-T |
c.2446C>T |
p.P816S |
Missense |
20/106 |
- |
2 |
19-38951101-C-T |
c.2447C>T |
p.P816L |
Missense |
20/106 |
- |
1 |
19-38951106-G-A |
c.2452G>A |
p.E818K |
Missense |
20/106 |
- |
1 |
19-38951109-C-T |
c.2455C>T |
p.R819* |
Nonsense |
20/106 |
- |
1 |
19-38951130-A-T |
c.2476A>T |
p.K826* |
Nonsense |
20/106 |
- |
1 |
19-38951140-G-A |
c.2486G>A |
p.R829Q |
Missense |
20/106 |
- |
1 |
19-38951142-C-T |
c.2488C>T |
p.R830W |
Missense |
20/106 |
- |
4 |
19-38951143-G-A |
c.2489G>A |
p.R830Q |
Missense |
20/106 |
- |
1 |
19-38951148-GG-TT |
c.2494_2495delinsTT |
p.G832L |
Missense |
20/106 |
- |
1 |
19-38951157-G-A |
c.2503G>A |
p.G835R |
Missense |
20/106 |
- |
1 |
19-38951154-CG-C |
c.2505del |
p.P836Lfs*48 |
Frameshift |
20/106 |
- |
3 |
19-38951175-C-G |
c.2521C>G |
p.P841A |
Missense |
20/106 |
- |
1 |
19-38951199-G-A |
c.2545G>A |
p.D849N |
Missense |
20/106 |
- |
1 |
19-38951202-T-G |
c.2548T>G |
p.F850V |
Missense |
20/106 |
- |
1 |
19-38951204-C-G |
c.2550C>G |
p.F850L |
Missense |
20/106 |
- |
1 |
19-38951231-G-C |
c.2577G>C |
p.Q859H |
Missense |
20/106 |
- |
1 |
19-38951238-C-T |
c.2577+7C>T |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38954079-A-G |
c.2594A>G |
p.H865R |
Missense |
21/106 |
- |
1 |
19-38954088-G-A |
c.2603G>A |
p.R868H |
Missense |
21/106 |
- |
1 |
19-38954093-C-T |
c.2608C>T |
p.R870W |
Missense |
21/106 |
- |
1 |
19-38954116-C-T |
c.2631C>T |
p.I877= |
Synonymous |
21/106 |
- |
1 |
19-38954120-G-A |
c.2635G>A |
p.E879K |
Missense |
21/106 |
- |
1 |
19-38954130-C-T |
c.2645C>T |
p.A882V |
Missense |
21/106 |
- |
1 |
19-38954133-T-C |
c.2648T>C |
p.L883P |
Missense |
21/106 |
- |
1 |
19-38954139-G-A |
c.2654G>A |
p.R885H |
Missense |
21/106 |
- |
4 |
19-38954139-G-T |
c.2654G>T |
p.R885L |
Missense |
21/106 |
- |
2 |
19-38954144-G-A |
c.2659G>A |
p.E887K |
Missense |
21/106 |
- |
3 |
19-38954147-C-T |
c.2662C>T |
p.Q888* |
Nonsense |
21/106 |
- |
1 |
19-38954157-CC-TG |
c.2672_2673delinsTG |
p.T891M |
Missense |
21/106 |
- |
1 |
19-38954162-G-A |
c.2677G>A |
p.G893S |
Missense |
21/106 |
- |
4 |
19-38954167-G-A |
c.2682G>A |
p.P894= |
Synonymous |
21/106 |
- |
1 |
19-38954193-G-T |
c.2682+26G>T |
- |
IntronicSNV |
- |
21/105 |
1 |
19-38954391-G-A |
c.2687G>A |
p.R896Q |
Missense |
22/106 |
- |
2 |
19-38954396-G-A |
c.2692G>A |
p.D898N |
Missense |
22/106 |
- |
1 |
19-38954397-A-T |
c.2693A>T |
p.D898V |
Missense |
22/106 |
- |
1 |
19-38954401-C-A |
c.2697C>A |
p.N899K |
Missense |
22/106 |
- |
1 |
19-38954413-ACCC-A |
c.2709_2711del |
p.H903_P904delinsQ |
MultiAAMissense |
22/106 |
- |
1 |
19-38954413-C-G |
c.2709C>G |
p.H903Q |
Missense |
22/106 |
- |
1 |
19-38954415-C-T |
c.2711C>T |
p.P904L |
Missense |
22/106 |
- |
1 |
19-38954471-A-G |
c.2767A>G |
p.M923V |
Missense |
22/106 |
- |
1 |
19-38954481-A-C |
c.2777A>C |
p.E926A |
Missense |
22/106 |
- |
1 |
19-38955289-G-A |
c.2797G>A |
p.A933T |
Missense |
23/106 |
- |
2 |
19-38955352-C-T |
c.2860C>T |
p.L954F |
Missense |
23/106 |
- |
2 |
19-38955362-C-T |
c.2870C>T |
p.T957M |
Missense |
23/106 |
- |
1 |
19-38955363-G-A |
c.2870+1G>A |
- |
IntronicSNV |
- |
23/105 |
1 |
19-38956770-C-A |
c.2910C>A |
p.D970E |
Missense |
24/106 |
- |
1 |
19-38956777-C-T |
c.2917C>T |
p.H973Y |
Missense |
24/106 |
- |
1 |
19-38956779-C-T |
c.2919C>T |
p.H973= |
Synonymous |
24/106 |
- |
1 |
19-38956780-G-A |
c.2920G>A |
p.V974M |
Missense |
24/106 |
- |
3 |
19-38956783-C-T |
c.2923C>T |
p.R975W |
Missense |
24/106 |
- |
4 |
19-38956790-C-T |
c.2930C>T |
p.T977M |
Missense |
24/106 |
- |
1 |
19-38956798-C-T |
c.2938C>T |
p.Q980* |
Nonsense |
24/106 |
- |
1 |
19-38956803-G-A |
c.2943G>A |
p.T981= |
Synonymous |
24/106 |
- |
2 |
19-38956803-G-C |
c.2943G>C |
p.T981= |
Synonymous |
24/106 |
- |
4 |
19-38956803-G-T |
c.2943G>T |
p.T981= |
Synonymous |
24/106 |
- |
1 |
19-38956813-GA-TG |
c.2953_2954delinsTG |
p.D985C |
Missense |
24/106 |
- |
1 |
19-38956826-A-G |
c.2966A>G |
p.E989G |
Missense |
24/106 |
- |
3 |
19-38956834-C-G |
c.2974C>G |
p.H992D |
Missense |
24/106 |
- |
1 |
19-38956839-C-T |
c.2979C>T |
p.N993= |
Synonymous |
24/106 |
- |
3 |
19-38956844-G-A |
c.2984G>A |
p.W995* |
Nonsense |
24/106 |
- |
1 |
19-38956849-C-T |
c.2989C>T |
p.R997* |
Nonsense |
24/106 |
- |
1 |
19-38956850-G-A |
c.2990G>A |
p.R997Q |
Missense |
24/106 |
- |
1 |
19-38956853-A-T |
c.2993A>T |
p.D998V |
Missense |
24/106 |
- |
1 |
19-38956856-G-A |
c.2996G>A |
p.R999H |
Missense |
24/106 |
- |
2 |
19-38956865-A-G |
c.3005A>G |
p.Q1002R |
Missense |
24/106 |
- |
1 |
19-38956882-G-A |
c.3022G>A |
p.A1008T |
Missense |
24/106 |
- |
1 |
19-38956904-G-A |
c.3044G>A |
p.R1015H |
Missense |
24/106 |
- |
1 |
19-38956907-G-A |
c.3047G>A |
p.R1016Q |
Missense |
24/106 |
- |
1 |
19-38956915-C-T |
c.3055C>T |
p.R1019W |
Missense |
24/106 |
- |
1 |
19-38956924-C-T |
c.3064C>T |
p.P1022S |
Missense |
24/106 |
- |
1 |
19-38956931-G-A |
c.3071G>A |
p.R1024H |
Missense |
24/106 |
- |
1 |
19-38956942-G-A |
c.3082G>A |
p.E1028K |
Missense |
24/106 |
- |
1 |
19-38956948-AC-TG |
c.3088_3089delinsTG |
p.T1030C |
Missense |
24/106 |
- |
1 |
19-38956954-C-T |
c.3094C>T |
p.R1032C |
Missense |
24/106 |
- |
1 |
19-38956963-C-T |
c.3103C>T |
p.R1035W |
Missense |
24/106 |
- |
1 |
19-38956964-G-A |
c.3104G>A |
p.R1035Q |
Missense |
24/106 |
- |
1 |
19-38956987-C-T |
c.3127C>T |
p.R1043C |
Missense |
24/106 |
- |
6 |
19-38956988-G-A |
c.3128G>A |
p.R1043H |
Missense |
24/106 |
- |
3 |
19-38957026-G-C |
c.3166G>C |
p.D1056H |
Missense |
24/106 |
- |
2 |
19-38957032-G-A |
c.3172G>A |
p.E1058K |
Missense |
24/106 |
- |
1 |
19-38957036-C-T |
c.3176C>T |
p.P1059L |
Missense |
24/106 |
- |
1 |
19-38958260-G-C |
c.3189G>C |
p.E1063D |
Missense |
25/106 |
- |
1 |
19-38958279-C-T |
c.3208C>T |
p.R1070W |
Missense |
25/106 |
- |
1 |
19-38958286-G-A |
c.3215G>A |
p.R1072H |
Missense |
25/106 |
- |
1 |
19-38958294-C-T |
c.3223C>T |
p.R1075W |
Missense |
25/106 |
- |
3 |
19-38958295-G-A |
c.3224G>A |
p.R1075Q |
Missense |
25/106 |
- |
1 |
19-38958327-C-A |
c.3256C>A |
p.R1086S |
Missense |
25/106 |
- |
1 |
19-38958327-C-T |
c.3256C>T |
p.R1086C |
Missense |
25/106 |
- |
1 |
19-38958328-G-A |
c.3257G>A |
p.R1086H |
Missense |
25/106 |
- |
10 |
19-38958355-C-A |
c.3284C>A |
p.T1095N |
Missense |
25/106 |
- |
1 |
19-38958370-G-A |
c.3299G>A |
p.R1100H |
Missense |
25/106 |
- |
1 |
19-38958372-G-A |
c.3301G>A |
p.V1101M |
Missense |
25/106 |
- |
1 |
19-38958375-G-C |
c.3304G>C |
p.G1102R |
Missense |
25/106 |
- |
1 |
19-38958387-C-G |
c.3316C>G |
p.P1106A |
Missense |
25/106 |
- |
1 |
19-38958396-AG-CT |
c.3325_3326inv |
p.R1109L |
Missense |
25/106 |
- |
1 |
19-38958397-G-A |
c.3326G>A |
p.R1109K |
Missense |
25/106 |
- |
2 |
19-38958403-A-T |
c.3332A>T |
p.D1111V |
Missense |
25/106 |
- |
1 |
19-38958423-G-A |
c.3352G>A |
p.E1118K |
Missense |
25/106 |
- |
1 |
19-38958433-A-G |
c.3362A>G |
p.Y1121C |
Missense |
25/106 |
- |
2 |
19-38958436-T-G |
c.3365T>G |
p.V1122G |
Missense |
25/106 |
- |
1 |
19-38958450-C-T |
c.3379C>T |
p.R1127C |
Missense |
25/106 |
- |
1 |
19-38958451-G-A |
c.3380G>A |
p.R1127H |
Missense |
25/106 |
- |
1 |
19-38958453-G-A |
c.3381+1G>A |
- |
IntronicSNV |
- |
25/105 |
1 |
19-38959196-T-G |
c.3382-410T>G |
- |
IntronicSNV |
- |
25/105 |
1 |
19-38959613-G-A |
c.3389G>A |
p.R1130H |
Missense |
26/106 |
- |
2 |
19-38959624-G-A |
c.3400G>A |
p.G1134S |
Missense |
26/106 |
- |
1 |
19-38959642-C-T |
c.3418C>T |
p.R1140C |
Missense |
26/106 |
- |
1 |
19-38959643-G-T |
c.3419G>T |
p.R1140L |
Missense |
26/106 |
- |
1 |
19-38959661-A-G |
c.3437A>G |
p.D1146G |
Missense |
26/106 |
- |
1 |
19-38959673-TG-T |
c.3449del |
p.C1150Lfs*2 |
Frameshift |
26/106 |
- |
1 |
19-38959680-C-A |
c.3456C>A |
p.I1152= |
Synonymous |
26/106 |
- |
2 |
19-38959680-C-T |
c.3456C>T |
p.I1152= |
Synonymous |
26/106 |
- |
2 |
19-38959684-C-T |
c.3460C>T |
p.L1154F |
Missense |
26/106 |
- |
1 |
19-38959701-T-G |
c.3477T>G |
p.I1159M |
Missense |
26/106 |
- |
1 |
19-38959709-C-T |
c.3485C>T |
p.T1162I |
Missense |
26/106 |
- |
1 |
19-38959718-G-A |
c.3494G>A |
p.G1165D |
Missense |
26/106 |
- |
1 |
19-38959719-C-T |
c.3495C>T |
p.G1165= |
Synonymous |
26/106 |
- |
3 |
19-38959725-CCT-C |
c.3503_3504del |
p.L1168Hfs*3 |
Frameshift |
26/106 |
- |
1 |
19-38959729-A-C |
c.3505A>C |
p.M1169L |
Missense |
26/106 |
- |
1 |
19-38959730-T-C |
c.3506T>C |
p.M1169T |
Missense |
26/106 |
- |
1 |
19-38959747-G-A |
c.3523G>A |
p.E1175K |
Missense |
26/106 |
- |
6 |
19-38959748-A-G |
c.3524A>G |
p.E1175G |
Missense |
26/106 |
- |
1 |
19-38959759-C-T |
c.3535C>T |
p.R1179W |
Missense |
26/106 |
- |
1 |
19-38959772-T-C |
c.3548T>C |
p.I1183T |
Missense |
26/106 |
- |
1 |
19-38959950-C-T |
c.3562C>T |
p.L1188= |
Synonymous |
27/106 |
- |
1 |
19-38960007-G-A |
c.3619G>A |
p.V1207M |
Missense |
27/106 |
- |
3 |
19-38960067-A-G |
c.3679A>G |
p.I1227V |
Missense |
27/106 |
- |
1 |
19-38960074-ATGCAGCGCCCAGTC-A |
c.3686_3699del |
p.M1229Nfs*12 |
Frameshift |
27/106 |
- |
1 |
19-38960080-G-A |
c.3692G>A |
p.R1231H |
Missense |
27/106 |
- |
1 |
19-38960109-C-T |
c.3721C>T |
p.L1241= |
Synonymous |
27/106 |
- |
1 |
19-38960148-T-C |
c.3760T>C |
p.Y1254H |
Missense |
27/106 |
- |
1 |
19-38964024-G-A |
c.3773G>A |
p.R1258Q |
Missense |
28/106 |
- |
1 |
19-38964060-G-A |
c.3809G>A |
p.R1270H |
Missense |
28/106 |
- |
1 |
19-38964066-C-T |
c.3815C>T |
p.T1272I |
Missense |
28/106 |
- |
1 |
19-38964071-C-T |
c.3820C>T |
p.R1274C |
Missense |
28/106 |
- |
1 |
19-38964090-A-G |
c.3839A>G |
p.N1280S |
Missense |
28/106 |
- |
1 |
19-38964109-T-A |
c.3858T>A |
p.L1286= |
Synonymous |
28/106 |
- |
1 |
19-38964109-T-C |
c.3858T>C |
p.L1286= |
Synonymous |
28/106 |
- |
1 |
19-38964109-T-G |
c.3858T>G |
p.L1286= |
Synonymous |
28/106 |
- |
1 |
19-38964117-G-A |
c.3866G>A |
p.R1289Q |
Missense |
28/106 |
- |
1 |
19-38964131-G-T |
c.3880G>T |
p.V1294F |
Missense |
28/106 |
- |
2 |
19-38964152-C-T |
c.3901C>T |
p.R1301C |
Missense |
28/106 |
- |
2 |
19-38964179-G-T |
c.3928G>T |
p.A1310S |
Missense |
28/106 |
- |
1 |
19-38964186-C-T |
c.3935C>T |
p.P1312L |
Missense |
28/106 |
- |
1 |
19-38964201-C-T |
c.3950C>T |
p.P1317L |
Missense |
28/106 |
- |
1 |
19-38964206-G-A |
c.3955G>A |
p.E1319K |
Missense |
28/106 |
- |
1 |
19-38964218-C-T |
c.3967C>T |
p.R1323W |
Missense |
28/106 |
- |
1 |
19-38964226-G-A |
c.3975G>A |
p.A1325= |
Synonymous |
28/106 |
- |
1 |
19-38964236-C-G |
c.3985C>G |
p.P1329A |
Missense |
28/106 |
- |
1 |
19-38964254-C-T |
c.4003C>T |
p.R1335C |
Missense |
28/106 |
- |
1 |
19-38964258-G-A |
c.4007G>A |
p.R1336H |
Missense |
28/106 |
- |
1 |
19-38964275-A-G |
c.4024A>G |
p.S1342G |
Missense |
28/106 |
- |
11 |
19-38964289-C-A |
c.4038C>A |
p.N1346K |
Missense |
28/106 |
- |
1 |
19-38964302-A-T |
c.4051A>T |
p.T1351S |
Missense |
28/106 |
- |
1 |
19-38964306-C-G |
c.4055C>G |
p.A1352G |
Missense |
28/106 |
- |
4 |
19-38964317-G-A |
c.4066G>A |
p.A1356T |
Missense |
28/106 |
- |
2 |
19-38964322-C-A |
c.4071C>A |
p.P1357= |
Synonymous |
28/106 |
- |
1 |
19-38964322-C-G |
c.4071C>G |
p.P1357= |
Synonymous |
28/106 |
- |
1 |
19-38964322-C-T |
c.4071C>T |
p.P1357= |
Synonymous |
28/106 |
- |
1 |
19-38964323-G-A |
c.4072G>A |
p.G1358R |
Missense |
28/106 |
- |
1 |
19-38964323-G-C |
c.4072G>C |
p.G1358R |
Missense |
28/106 |
- |
1 |
19-38964328-C-A |
c.4077C>A |
p.G1359= |
Synonymous |
28/106 |
- |
1 |
19-38964333-C-G |
c.4082C>G |
p.P1361R |
Missense |
28/106 |
- |
1 |
19-38964339-C-T |
c.4088C>T |
p.A1363V |
Missense |
28/106 |
- |
3 |
19-38964341-G-C |
c.4090G>C |
p.G1364R |
Missense |
28/106 |
- |
1 |
19-38964339-CG-C |
c.4094del |
p.G1365Efs*33 |
Frameshift |
28/106 |
- |
2 |
19-38964350-G-C |
c.4099G>C |
p.A1367P |
Missense |
28/106 |
- |
1 |
19-38964359-G-A |
c.4108G>A |
p.A1370T |
Missense |
28/106 |
- |
1 |
19-38964364-G-C |
c.4113G>C |
p.R1371S |
Missense |
28/106 |
- |
1 |
19-38964366-C-T |
c.4115C>T |
p.A1372V |
Missense |
28/106 |
- |
2 |
19-38964401-A-C |
c.4150A>C |
p.K1384Q |
Missense |
28/106 |
- |
1 |
19-38965975-A-G |
c.4178A>G |
p.K1393R |
Missense |
29/106 |
- |
12 |
19-38966001-C-T |
c.4204C>T |
p.P1402S |
Missense |
29/106 |
- |
1 |
19-38966014-C-T |
c.4217C>T |
p.T1406M |
Missense |
29/106 |
- |
1 |
19-38966022-C-T |
c.4225C>T |
p.R1409* |
Nonsense |
29/106 |
- |
3 |
19-38966034-G-A |
c.4237G>A |
p.D1413N |
Missense |
29/106 |
- |
2 |
19-38966066-C-A |
c.4269C>A |
p.P1423= |
Synonymous |
29/106 |
- |
1 |
19-38966066-C-G |
c.4269C>G |
p.P1423= |
Synonymous |
29/106 |
- |
1 |
19-38966066-C-T |
c.4269C>T |
p.P1423= |
Synonymous |
29/106 |
- |
1 |
19-38966067-G-A |
c.4270G>A |
p.E1424K |
Missense |
29/106 |
- |
1 |
19-38966089-C-T |
c.4292C>T |
p.T1431M |
Missense |
29/106 |
- |
1 |
19-38966090-G-A |
c.4293G>A |
p.T1431= |
Synonymous |
29/106 |
- |
1 |
19-38968362-G-A |
c.4306G>A |
p.V1436M |
Missense |
30/106 |
- |
1 |
19-38968394-C-T |
c.4338C>T |
p.C1446= |
Synonymous |
30/106 |
- |
1 |
19-38968414-C-A |
c.4358C>A |
p.T1453N |
Missense |
30/106 |
- |
1 |
19-38968461-C-T |
c.4405C>T |
p.R1469W |
Missense |
30/106 |
- |
3 |
19-38968484-G-A |
c.4428G>A |
p.G1476= |
Synonymous |
30/106 |
- |
1 |
19-38968484-G-C |
c.4428G>C |
p.G1476= |
Synonymous |
30/106 |
- |
1 |
19-38968484-G-T |
c.4428G>T |
p.G1476= |
Synonymous |
30/106 |
- |
1 |
19-38968500-G-A |
c.4444G>A |
p.V1482I |
Missense |
30/106 |
- |
1 |
19-38968510-G-A |
c.4454G>A |
p.S1485N |
Missense |
30/106 |
- |
1 |
19-38969098-T-G |
c.4478T>G |
p.M1493R |
Missense |
31/106 |
- |
1 |
19-38969100-GTGTGGGGCGGAGACTT-G |
c.4485_4500del |
p.W1495* |
Frameshift |
31/106 |
- |
3 |
19-38969105-G-A |
c.4485G>A |
p.W1495* |
Nonsense |
31/106 |
- |
1 |
19-38969114-CTT-C |
c.4496_4497del |
p.F1499Cfs*47 |
Frameshift |
31/106 |
- |
1 |
19-38969139-CGG-TGT |
c.4519_4521delinsTGT |
p.R1507C |
Missense |
31/106 |
- |
1 |
19-38969139-C-T |
c.4519C>T |
p.R1507W |
Missense |
31/106 |
- |
1 |
19-38969140-G-A |
c.4520G>A |
p.R1507Q |
Missense |
31/106 |
- |
1 |
19-38969187-A-C |
c.4567A>C |
p.T1523P |
Missense |
31/106 |
- |
1 |
19-38969212-A-G |
c.4592A>G |
p.N1531S |
Missense |
31/106 |
- |
1 |
19-38969224-G-T |
c.4604G>T |
p.S1535I |
Missense |
31/106 |
- |
1 |
19-38973685-C-T |
c.4639C>T |
p.L1547= |
Synonymous |
32/106 |
- |
1 |
19-38973697-G-A |
c.4651G>A |
p.V1551I |
Missense |
32/106 |
- |
1 |
19-38973709-C-T |
c.4663C>T |
p.P1555S |
Missense |
32/106 |
- |
1 |
19-38973933-A-G |
c.4711A>G |
p.I1571V |
Missense |
33/106 |
- |
13 |
19-38973937-T-C |
c.4715T>C |
p.M1572T |
Missense |
33/106 |
- |
2 |
19-38973940-C-T |
c.4718C>T |
p.P1573L |
Missense |
33/106 |
- |
1 |
19-38973941-G-A |
c.4719G>A |
p.P1573= |
Synonymous |
33/106 |
- |
1 |
19-38973941-G-C |
c.4719G>C |
p.P1573= |
Synonymous |
33/106 |
- |
1 |
19-38973941-G-T |
c.4719G>T |
p.P1573= |
Synonymous |
33/106 |
- |
1 |
19-38973979-C-T |
c.4757C>T |
p.P1586L |
Missense |
33/106 |
- |
1 |
19-38973985-C-T |
c.4763C>T |
p.P1588L |
Missense |
33/106 |
- |
3 |
19-38973997-C-T |
c.4775C>T |
p.P1592L |
Missense |
33/106 |
- |
1 |
19-38973999-C-T |
c.4777C>T |
p.R1593W |
Missense |
33/106 |
- |
1 |
19-38974017-C-G |
c.4795C>G |
p.L1599V |
Missense |
33/106 |
- |
1 |
19-38974032-T-A |
c.4810T>A |
p.W1604R |
Missense |
33/106 |
- |
1 |
19-38974038-C-A |
c.4816C>A |
p.R1606S |
Missense |
33/106 |
- |
1 |
19-38974038-C-T |
c.4816C>T |
p.R1606C |
Missense |
33/106 |
- |
1 |
19-38974039-G-A |
c.4817G>A |
p.R1606H |
Missense |
33/106 |
- |
2 |
19-38974043-TG-T |
c.4821del |
p.M1607Ifs*27 |
Frameshift |
33/106 |
- |
1 |
19-38974059-C-T |
c.4837C>T |
p.Q1613* |
Nonsense |
33/106 |
- |
1 |
19-38974069-C-T |
c.4847C>T |
p.T1616M |
Missense |
33/106 |
- |
1 |
19-38974075-G-A |
c.4853G>A |
p.R1618H |
Missense |
33/106 |
- |
1 |
19-38974080-G-A |
c.4858G>A |
p.G1620S |
Missense |
33/106 |
- |
1 |
19-38974082-C-T |
c.4860C>T |
p.G1620= |
Synonymous |
33/106 |
- |
1 |
19-38974086-C-T |
c.4864C>T |
p.R1622W |
Missense |
33/106 |
- |
1 |
19-38974101-G-A |
c.4879G>A |
p.V1627M |
Missense |
33/106 |
- |
1 |
19-38974116-C-T |
c.4894C>T |
p.P1632S |
Missense |
33/106 |
- |
2 |
19-38974130-G-A |
c.4908G>A |
p.M1636I |
Missense |
33/106 |
- |
1 |
19-38974146-G-A |
c.4924G>A |
p.E1642K |
Missense |
33/106 |
- |
2 |
19-38974154-C-T |
c.4932C>T |
p.N1644= |
Synonymous |
33/106 |
- |
1 |
19-38976244-T-C |
c.4949T>C |
p.L1650P |
Missense |
34/106 |
- |
1 |
19-38976262-T-G |
c.4967T>G |
p.L1656R |
Missense |
34/106 |
- |
1 |
19-38976274-G-A |
c.4979G>A |
p.R1660H |
Missense |
34/106 |
- |
1 |
19-38976275-C-T |
c.4980C>T |
p.R1660= |
Synonymous |
34/106 |
- |
1 |
19-38976283-C-G |
c.4988C>G |
p.S1663W |
Missense |
34/106 |
- |
1 |
19-38976294-C-A |
c.4999C>A |
p.R1667S |
Missense |
34/106 |
- |
1 |
19-38976294-C-T |
c.4999C>T |
p.R1667C |
Missense |
34/106 |
- |
3 |
19-38976295-G-A |
c.5000G>A |
p.R1667H |
Missense |
34/106 |
- |
2 |
19-38976303-C-T |
c.5008C>T |
p.R1670C |
Missense |
34/106 |
- |
1 |
19-38976306-G-A |
c.5011G>A |
p.A1671T |
Missense |
34/106 |
- |
1 |
19-38976319-T-C |
c.5024T>C |
p.L1675P |
Missense |
34/106 |
- |
1 |
19-38976331-G-A |
c.5036G>A |
p.R1679H |
Missense |
34/106 |
- |
5 |
19-38976331-G-C |
c.5036G>C |
p.R1679P |
Missense |
34/106 |
- |
1 |
19-38976348-T-G |
c.5053T>G |
p.C1685G |
Missense |
34/106 |
- |
1 |
19-38976361-A-G |
c.5066A>G |
p.D1689G |
Missense |
34/106 |
- |
1 |
19-38976387-G-T |
c.5092G>T |
p.E1698* |
Nonsense |
34/106 |
- |
1 |
19-38976402-C-T |
c.5107C>T |
p.P1703S |
Missense |
34/106 |
- |
1 |
19-38976420-G-C |
c.5125G>C |
p.G1709R |
Missense |
34/106 |
- |
1 |
19-38976430-ACCT-A |
c.5140_5142del |
p.L1714del |
InFrameDeletion |
34/106 |
- |
1 |
19-38976478-C-T |
c.5183C>T |
p.S1728F |
Missense |
34/106 |
- |
5 |
19-38976481-T-C |
c.5186T>C |
p.M1729T |
Missense |
34/106 |
- |
2 |
19-38976501-C-T |
c.5206C>T |
p.P1736S |
Missense |
34/106 |
- |
1 |
19-38976567-C-T |
c.5272C>T |
p.P1758S |
Missense |
34/106 |
- |
1 |
19-38976582-C-T |
c.5287C>T |
p.P1763S |
Missense |
34/106 |
- |
1 |
19-38976598-C-T |
c.5303C>T |
p.T1768I |
Missense |
34/106 |
- |
1 |
19-38976612-C-T |
c.5317C>T |
p.P1773S |
Missense |
34/106 |
- |
2 |
19-38976616-C-A |
c.5321C>A |
p.P1774Q |
Missense |
34/106 |
- |
1 |
19-38976616-C-T |
c.5321C>T |
p.P1774L |
Missense |
34/106 |
- |
1 |
19-38976634-C-G |
c.5339C>G |
p.P1780R |
Missense |
34/106 |
- |
1 |
19-38976655-C-T |
c.5360C>T |
p.P1787L |
Missense |
34/106 |
- |
9 |
19-38976684-C-T |
c.5389C>T |
p.R1797C |
Missense |
34/106 |
- |
1 |
19-38976691-G-A |
c.5396G>A |
p.S1799N |
Missense |
34/106 |
- |
1 |
19-38976703-C-T |
c.5408C>T |
p.P1803L |
Missense |
34/106 |
- |
2 |
19-38976736-T-A |
c.5441T>A |
p.M1814K |
Missense |
34/106 |
- |
1 |
19-38976753-CGC-TGA |
c.5458_5460delinsTGA |
p.R1820* |
Nonsense |
34/106 |
- |
1 |
19-38976754-G-T |
c.5459G>T |
p.R1820L |
Missense |
34/106 |
- |
1 |
19-38976770-C-A |
c.5475C>A |
p.H1825Q |
Missense |
34/106 |
- |
1 |
19-38976770-C-G |
c.5475C>G |
p.H1825Q |
Missense |
34/106 |
- |
1 |
19-38976774-C-T |
c.5479C>T |
p.R1827C |
Missense |
34/106 |
- |
1 |
19-38976777-G-A |
c.5482G>A |
p.D1828N |
Missense |
34/106 |
- |
1 |
19-38976777-G-C |
c.5482G>C |
p.D1828H |
Missense |
34/106 |
- |
1 |
19-38976795-G-A |
c.5500G>A |
p.V1834M |
Missense |
34/106 |
- |
1 |
19-38976805-A-C |
c.5510A>C |
p.Q1837P |
Missense |
34/106 |
- |
1 |
19-38976819-C-G |
c.5524C>G |
p.L1842V |
Missense |
34/106 |
- |
1 |
19-38976837-C-G |
c.5542C>G |
p.L1848V |
Missense |
34/106 |
- |
1 |
19-38979817-G-A |
c.5548G>A |
p.V1850M |
Missense |
35/106 |
- |
1 |
19-38979871-C-A |
c.5602C>A |
p.P1868T |
Missense |
35/106 |
- |
1 |
19-38979877-G-C |
c.5608G>C |
p.V1870L |
Missense |
35/106 |
- |
1 |
19-38979894-AGAG-A |
c.5634_5636del |
p.E1878del |
InFrameDeletion |
35/106 |
- |
1 |
19-38979903-G-C |
c.5634G>C |
p.E1878D |
Missense |
35/106 |
- |
2 |
19-38979903-G-T |
c.5634G>T |
p.E1878D |
Missense |
35/106 |
- |
1 |
19-38979907-G-A |
c.5638G>A |
p.E1880K |
Missense |
35/106 |
- |
1 |
19-38979919-G-C |
c.5650G>C |
p.G1884R |
Missense |
35/106 |
- |
1 |
19-38979933-TGAG-T |
c.5671_5673del |
p.E1891del |
InFrameDeletion |
35/106 |
- |
1 |
19-38979943-A-G |
c.5674A>G |
p.K1892E |
Missense |
35/106 |
- |
1 |
19-38979954-TGAG-T |
c.5691_5693del |
p.E1898del |
InFrameDeletion |
35/106 |
- |
1 |
19-38979978-G-A |
c.5709G>A |
p.K1903= |
Synonymous |
35/106 |
- |
1 |
19-38979982-G-A |
c.5713G>A |
p.D1905N |
Missense |
35/106 |
- |
1 |
19-38979992-A-G |
c.5723A>G |
p.K1908R |
Missense |
35/106 |
- |
1 |
19-38979992-AAG-A |
c.5726_5727del |
p.E1909Gfs*39 |
Frameshift |
35/106 |
- |
1 |
19-38980005-GGCA-G |
c.5741_5743del |
p.A1914del |
InFrameDeletion |
35/106 |
- |
1 |
19-38980015-G-A |
c.5746G>A |
p.G1916R |
Missense |
35/106 |
- |
1 |
19-38980015-G-C |
c.5746G>C |
p.G1916R |
Missense |
35/106 |
- |
2 |
19-38980700-G-A |
c.5815-16G>A |
- |
IntronicSNV |
- |
35/105 |
1 |
19-38980716-A-T |
c.5815A>T |
p.M1939L |
Missense |
36/106 |
- |
1 |
19-38980724-C-A |
c.5823C>A |
p.H1941Q |
Missense |
36/106 |
- |
1 |
19-38980764-G-A |
c.5863G>A |
p.V1955M |
Missense |
36/106 |
- |
1 |
19-38980767-G-A |
c.5866G>A |
p.E1956K |
Missense |
36/106 |
- |
1 |
19-38980770-T-A |
c.5869T>A |
p.S1957T |
Missense |
36/106 |
- |
1 |
19-38980792-G-A |
c.5891G>A |
p.R1964H |
Missense |
36/106 |
- |
1 |
19-38980808-CCAGG-C |
c.5909_5912del |
p.Q1970Pfs*11 |
Frameshift |
36/106 |
- |
1 |
19-38980816-A-T |
c.5915A>T |
p.N1972I |
Missense |
36/106 |
- |
2 |
19-38980821-C-T |
c.5920C>T |
p.R1974W |
Missense |
36/106 |
- |
1 |
19-38980822-G-A |
c.5921G>A |
p.R1974Q |
Missense |
36/106 |
- |
1 |
19-38980827-C-T |
c.5926C>T |
p.R1976C |
Missense |
36/106 |
- |
1 |
19-38980830-T-A |
c.5929T>A |
p.Y1977N |
Missense |
36/106 |
- |
1 |
19-38980882-G-C |
c.5981G>C |
p.R1994P |
Missense |
36/106 |
- |
1 |
19-38980888-G-C |
c.5987G>C |
p.R1996P |
Missense |
36/106 |
- |
1 |
19-38980889-C-T |
c.5988C>T |
p.R1996= |
Synonymous |
36/106 |
- |
1 |
19-38980890-G-A |
c.5989G>A |
p.E1997K |
Missense |
36/106 |
- |
1 |
19-38980896-C-T |
c.5995C>T |
p.R1999C |
Missense |
36/106 |
- |
1 |
19-38980900-C-T |
c.5999C>T |
p.S2000F |
Missense |
36/106 |
- |
1 |
19-38981268-T-C |
c.6023T>C |
p.M2008T |
Missense |
37/106 |
- |
1 |
19-38981272-AT-A |
c.6029del |
p.L2010Cfs*37 |
Frameshift |
37/106 |
- |
1 |
19-38981292-C-A |
c.6047C>A |
p.T2016K |
Missense |
37/106 |
- |
1 |
19-38981323-G-C |
c.6078G>C |
p.E2026D |
Missense |
37/106 |
- |
1 |
19-38981321-GAGATTCGAC-G |
c.6079_6087del |
p.I2027_Q2029del |
InFrameDeletion |
37/106 |
- |
1 |
19-38981327-C-T |
c.6082C>T |
p.R2028* |
Nonsense |
37/106 |
- |
1 |
19-38981328-G-A |
c.6083G>A |
p.R2028Q |
Missense |
37/106 |
- |
1 |
19-38983180-G-C |
c.6178G>C |
p.G2060R |
Missense |
38/106 |
- |
1 |
19-38983180-G-T |
c.6178G>T |
p.G2060C |
Missense |
38/106 |
- |
11 |
19-38983198-C-T |
c.6196C>T |
p.L2066= |
Synonymous |
38/106 |
- |
1 |
19-38983200-G-A |
c.6198G>A |
p.L2066= |
Synonymous |
38/106 |
- |
1 |
19-38983200-G-C |
c.6198G>C |
p.L2066= |
Synonymous |
38/106 |
- |
1 |
19-38983200-G-T |
c.6198G>T |
p.L2066= |
Synonymous |
38/106 |
- |
1 |
19-38983211-T-A |
c.6209T>A |
p.V2070E |
Missense |
38/106 |
- |
1 |
19-38983253-G-A |
c.6251G>A |
p.R2084Q |
Missense |
38/106 |
- |
1 |
19-38983263-G-A |
c.6261G>A |
p.E2087= |
Synonymous |
38/106 |
- |
1 |
19-38983277-G-A |
c.6274+1G>A |
- |
IntronicSNV |
- |
38/105 |
1 |
19-38985019-T-C |
c.6302T>C |
p.M2101T |
Missense |
39/106 |
- |
1 |
19-38985028-G-A |
c.6311G>A |
p.R2104H |
Missense |
39/106 |
- |
1 |
19-38985058-C-T |
c.6341C>T |
p.P2114L |
Missense |
39/106 |
- |
1 |
19-38985069-C-T |
c.6352C>T |
p.R2118W |
Missense |
39/106 |
- |
1 |
19-38985076-T-C |
c.6359T>C |
p.M2120T |
Missense |
39/106 |
- |
2 |
19-38985092-C-A |
c.6375C>A |
p.H2125Q |
Missense |
39/106 |
- |
1 |
19-38985093-C-T |
c.6376C>T |
p.R2126W |
Missense |
39/106 |
- |
1 |
19-38985094-G-A |
c.6377G>A |
p.R2126Q |
Missense |
39/106 |
- |
2 |
19-38985101-C-T |
c.6384C>T |
p.Y2128= |
Synonymous |
39/106 |
- |
1 |
19-38985102-G-A |
c.6385G>A |
p.D2129N |
Missense |
39/106 |
- |
1 |
19-38985104-C-G |
c.6387C>G |
p.D2129E |
Missense |
39/106 |
- |
1 |
19-38985105-G-A |
c.6388G>A |
p.G2130R |
Missense |
39/106 |
- |
1 |
19-38985105-G-C |
c.6388G>C |
p.G2130R |
Missense |
39/106 |
- |
1 |
19-38985135-C-T |
c.6418C>T |
p.R2140W |
Missense |
39/106 |
- |
2 |
19-38985151-C-T |
c.6434C>T |
p.S2145L |
Missense |
39/106 |
- |
1 |
19-38985181-T-C |
c.6464T>C |
p.L2155P |
Missense |
39/106 |
- |
1 |
19-38985186-G-A |
c.6469G>A |
p.E2157K |
Missense |
39/106 |
- |
1 |
19-38985195-G-A |
c.6478G>A |
p.G2160S |
Missense |
39/106 |
- |
1 |
19-38985204-C-T |
c.6487C>T |
p.R2163C |
Missense |
39/106 |
- |
10 |
19-38985205-G-A |
c.6488G>A |
p.R2163H |
Missense |
39/106 |
- |
16 |
19-38985205-G-C |
c.6488G>C |
p.R2163P |
Missense |
39/106 |
- |
4 |
19-38985205-G-T |
c.6488G>T |
p.R2163L |
Missense |
39/106 |
- |
1 |
19-38985215-C-A |
c.6498C>A |
p.L2166= |
Synonymous |
39/106 |
- |
1 |
19-38985215-C-G |
c.6498C>G |
p.L2166= |
Synonymous |
39/106 |
- |
1 |
19-38985215-C-T |
c.6498C>T |
p.L2166= |
Synonymous |
39/106 |
- |
1 |
19-38985219-G-A |
c.6502G>A |
p.V2168M |
Missense |
39/106 |
- |
17 |
19-38985231-C-T |
c.6514C>T |
p.P2172S |
Missense |
39/106 |
- |
1 |
19-38985237-G-T |
c.6520G>T |
p.E2174* |
Nonsense |
39/106 |
- |
1 |
19-38985238-A-C |
c.6521A>C |
p.E2174A |
Missense |
39/106 |
- |
1 |
19-38985261-A-T |
c.6544A>T |
p.I2182F |
Missense |
39/106 |
- |
1 |
19-38986881-A-G |
c.6575A>G |
p.Y2192C |
Missense |
40/106 |
- |
1 |
19-38986890-C-T |
c.6584C>T |
p.P2195L |
Missense |
40/106 |
- |
1 |
19-38986905-C-T |
c.6599C>T |
p.A2200V |
Missense |
40/106 |
- |
3 |
19-38986918-C-A |
c.6612C>A |
p.H2204Q |
Missense |
40/106 |
- |
1 |
19-38986918-C-G |
c.6612C>G |
p.H2204Q |
Missense |
40/106 |
- |
2 |
19-38986923-C-G |
c.6617C>G |
p.T2206R |
Missense |
40/106 |
- |
5 |
19-38986923-C-T |
c.6617C>T |
p.T2206M |
Missense |
40/106 |
- |
25 |
19-38986934-G-C |
c.6628G>C |
p.V2210L |
Missense |
40/106 |
- |
1 |
19-38986945-C-T |
c.6639C>T |
p.N2213= |
Synonymous |
40/106 |
- |
1 |
19-38986960-C-T |
c.6654C>T |
p.G2218= |
Synonymous |
40/106 |
- |
1 |
19-38987055-C-T |
c.6670C>T |
p.R2224C |
Missense |
41/106 |
- |
1 |
19-38987056-G-A |
c.6671G>A |
p.R2224H |
Missense |
41/106 |
- |
3 |
19-38987082-T-C |
c.6697T>C |
p.C2233R |
Missense |
41/106 |
- |
2 |
19-38987085-C-T |
c.6700C>T |
p.R2234C |
Missense |
41/106 |
- |
1 |
19-38987095-G-A |
c.6710G>A |
p.C2237Y |
Missense |
41/106 |
- |
2 |
19-38987106-C-G |
c.6721C>G |
p.R2241G |
Missense |
41/106 |
- |
1 |
19-38987106-C-T |
c.6721C>T |
p.R2241* |
Nonsense |
41/106 |
- |
14 |
19-38987115-C-A |
c.6730C>A |
p.R2244= |
Synonymous |
41/106 |
- |
1 |
19-38987115-C-T |
c.6730C>T |
p.R2244W |
Missense |
41/106 |
- |
1 |
19-38987117-G-A |
c.6732G>A |
p.R2244= |
Synonymous |
41/106 |
- |
1 |
19-38987117-G-C |
c.6732G>C |
p.R2244= |
Synonymous |
41/106 |
- |
1 |
19-38987117-G-T |
c.6732G>T |
p.R2244= |
Synonymous |
41/106 |
- |
1 |
19-38987118-C-CA |
c.6734dup |
p.N2246Efs*7 |
Frameshift |
41/106 |
- |
1 |
19-38987125-A-G |
c.6740A>G |
p.Q2247R |
Missense |
41/106 |
- |
1 |
19-38987127-C-T |
c.6742C>T |
p.R2248C |
Missense |
41/106 |
- |
2 |
19-38987128-G-A |
c.6743G>A |
p.R2248H |
Missense |
41/106 |
- |
3 |
19-38987128-GC-AA |
c.6743_6744delinsAA |
p.R2248Q |
Missense |
41/106 |
- |
1 |
19-38987142-C-T |
c.6757C>T |
p.H2253Y |
Missense |
41/106 |
- |
1 |
19-38987170-G-A |
c.6785G>A |
p.G2262D |
Missense |
41/106 |
- |
1 |
19-38987499-G-A |
c.6797-1G>A |
- |
IntronicSNV |
- |
41/105 |
1 |
19-38987506-A-AG |
c.6806dup |
p.S2270Lfs*13 |
Frameshift |
42/106 |
- |
1 |
19-38987526-G-A |
c.6823G>A |
p.V2275M |
Missense |
42/106 |
- |
1 |
19-38987541-G-A |
c.6838G>A |
p.V2280I |
Missense |
42/106 |
- |
5 |
19-38987550-A-C |
c.6847A>C |
p.N2283H |
Missense |
42/106 |
- |
4 |
19-38987559-C-G |
c.6856C>G |
p.L2286V |
Missense |
42/106 |
- |
1 |
19-38987563-C-A |
c.6860C>A |
p.A2287D |
Missense |
42/106 |
- |
1 |
19-38987595-G-T |
c.6891+1G>T |
- |
IntronicSNV |
- |
42/105 |
1 |
19-38989754-T-C |
c.6898T>C |
p.S2300P |
Missense |
43/106 |
- |
1 |
19-38989755-C-T |
c.6899C>T |
p.S2300F |
Missense |
43/106 |
- |
1 |
19-38989785-GC-G |
c.6933del |
p.M2312Cfs*118 |
Frameshift |
43/106 |
- |
1 |
19-38989790-CA-C |
c.6934del |
p.M2312Cfs*118 |
Frameshift |
43/106 |
- |
1 |
19-38989817-A-G |
c.6961A>G |
p.I2321V |
Missense |
43/106 |
- |
5 |
19-38989818-T-C |
c.6962T>C |
p.I2321T |
Missense |
43/106 |
- |
1 |
19-38989838-G-A |
c.6982G>A |
p.G2328R |
Missense |
43/106 |
- |
1 |
19-38989845-G-A |
c.6989G>A |
p.R2330H |
Missense |
43/106 |
- |
1 |
19-38989862-C-T |
c.7006C>T |
p.R2336C |
Missense |
43/106 |
- |
2 |
19-38989863-G-A |
c.7007G>A |
p.R2336H |
Missense |
43/106 |
- |
17 |
19-38989877-G-A |
c.7021G>A |
p.V2341I |
Missense |
43/106 |
- |
1 |
19-38989881-A-G |
c.7025A>G |
p.N2342S |
Missense |
43/106 |
- |
14 |
19-38989883-G-A |
c.7027G>A |
p.G2343S |
Missense |
43/106 |
- |
2 |
19-38990265-G-A |
c.7028-10G>A |
- |
IntronicSNV |
- |
43/105 |
1 |
19-38990279-G-C |
c.7032G>C |
p.E2344D |
Missense |
44/106 |
- |
1 |
19-38990279-G-T |
c.7032G>T |
p.E2344D |
Missense |
44/106 |
- |
1 |
19-38990281-G-A |
c.7034G>A |
p.S2345N |
Missense |
44/106 |
- |
2 |
19-38990281-G-C |
c.7034G>C |
p.S2345T |
Missense |
44/106 |
- |
3 |
19-38990280-A-C |
c.7033A>C |
p.S2345R |
Missense |
44/106 |
- |
1 |
19-38990282-C-A |
c.7035C>A |
p.S2345R |
Missense |
44/106 |
- |
2 |
19-38990282-C-G |
c.7035C>G |
p.S2345R |
Missense |
44/106 |
- |
1 |
19-38990283-G-A |
c.7036G>A |
p.V2346M |
Missense |
44/106 |
- |
2 |
19-38990284-TGGA-T |
c.7042_7044del |
p.E2348del |
InFrameDeletion |
44/106 |
- |
7 |
19-38990290-A-G |
c.7043A>G |
p.E2348G |
Missense |
44/106 |
- |
1 |
19-38990295-G-A |
c.7048G>A |
p.A2350T |
Missense |
44/106 |
- |
13 |
19-38990298-A-C |
c.7051A>C |
p.N2351H |
Missense |
44/106 |
- |
1 |
19-38990300-TGTG-T |
c.7060_7062del |
p.V2354del |
InFrameDeletion |
44/106 |
- |
3 |
19-38990307-G-A |
c.7060G>A |
p.V2354M |
Missense |
44/106 |
- |
2 |
19-38990310-C-T |
c.7063C>T |
p.R2355W |
Missense |
44/106 |
- |
13 |
19-38990319-A-C |
c.7072A>C |
p.I2358L |
Missense |
44/106 |
- |
2 |
19-38990320-T-C |
c.7073T>C |
p.I2358T |
Missense |
44/106 |
- |
1 |
19-38990323-G-A |
c.7076G>A |
p.R2359Q |
Missense |
44/106 |
- |
1 |
19-38990326-A-AG |
c.7080dup |
p.P2361Afs*2 |
Frameshift |
44/106 |
- |
1 |
19-38990331-G-A |
c.7084G>A |
p.E2362K |
Missense |
44/106 |
- |
1 |
19-38990331-G-C |
c.7084G>C |
p.E2362Q |
Missense |
44/106 |
- |
1 |
19-38990332-A-G |
c.7085A>G |
p.E2362G |
Missense |
44/106 |
- |
2 |
19-38990336-C-G |
c.7089C>G |
p.C2363W |
Missense |
44/106 |
- |
1 |
19-38990337-T-G |
c.7090T>G |
p.F2364V |
Missense |
44/106 |
- |
1 |
19-38990340-G-A |
c.7093G>A |
p.G2365R |
Missense |
44/106 |
- |
2 |
19-38990340-G-C |
c.7093G>C |
p.G2365R |
Missense |
44/106 |
- |
1 |
19-38990344-C-G |
c.7097C>G |
p.P2366R |
Missense |
44/106 |
- |
1 |
19-38990346-G-A |
c.7099G>A |
p.A2367T |
Missense |
44/106 |
- |
1 |
19-38990353-G-A |
c.7106G>A |
p.R2369Q |
Missense |
44/106 |
- |
2 |
19-38990358-G-A |
c.7111G>A |
p.E2371K |
Missense |
44/106 |
- |
3 |
19-38990359-A-G |
c.7112A>G |
p.E2371G |
Missense |
44/106 |
- |
2 |
19-38990367-T-C |
c.7120T>C |
p.S2374P |
Missense |
44/106 |
- |
1 |
19-38990371-G-C |
c.7124G>C |
p.G2375A |
Missense |
44/106 |
- |
9 |
19-38990388-G-A |
c.7141G>A |
p.E2381K |
Missense |
44/106 |
- |
1 |
19-38990390-A-T |
c.7143A>T |
p.E2381D |
Missense |
44/106 |
- |
1 |
19-38990409-G-A |
c.7162G>A |
p.E2388K |
Missense |
44/106 |
- |
1 |
19-38990407-CCGAGGACCCTG-C |
c.7166_7176del |
p.D2389Gfs*16 |
Frameshift |
44/106 |
- |
3 |
19-38990440-G-A |
c.7193G>A |
p.R2398H |
Missense |
44/106 |
- |
1 |
19-38990448-C-T |
c.7201C>T |
p.R2401W |
Missense |
44/106 |
- |
1 |
19-38990451-C-T |
c.7204C>T |
p.R2402W |
Missense |
44/106 |
- |
2 |
19-38990456-C-A |
c.7209C>A |
p.R2403= |
Synonymous |
44/106 |
- |
2 |
19-38990456-C-G |
c.7209C>G |
p.R2403= |
Synonymous |
44/106 |
- |
3 |
19-38990456-C-T |
c.7209C>T |
p.R2403= |
Synonymous |
44/106 |
- |
2 |
19-38990457-G-A |
c.7210G>A |
p.E2404K |
Missense |
44/106 |
- |
1 |
19-38990577-G-A |
c.7244G>A |
p.R2415Q |
Missense |
45/106 |
- |
1 |
19-38990593-C-T |
c.7260C>T |
p.H2420= |
Synonymous |
45/106 |
- |
1 |
19-38990594-G-T |
c.7261G>T |
p.A2421S |
Missense |
45/106 |
- |
1 |
19-38990601-T-A |
c.7268T>A |
p.M2423K |
Missense |
45/106 |
- |
3 |
19-38990604-C-T |
c.7271C>T |
p.S2424F |
Missense |
45/106 |
- |
1 |
19-38990610-A-G |
c.7277A>G |
p.Y2426C |
Missense |
45/106 |
- |
1 |
19-38990615-G-A |
c.7282G>A |
p.A2428T |
Missense |
45/106 |
- |
5 |
19-38990624-G-T |
c.7291G>T |
p.D2431Y |
Missense |
45/106 |
- |
1 |
19-38990632-C-A |
c.7299C>A |
p.L2433= |
Synonymous |
45/106 |
- |
1 |
19-38990632-C-G |
c.7299C>G |
p.L2433= |
Synonymous |
45/106 |
- |
1 |
19-38990632-C-T |
c.7299C>T |
p.L2433= |
Synonymous |
45/106 |
- |
1 |
19-38990633-G-A |
c.7300G>A |
p.G2434R |
Missense |
45/106 |
- |
31 |
19-38990633-G-C |
c.7300G>C |
p.G2434R |
Missense |
45/106 |
- |
6 |
19-38990636-CGC-AAG |
c.7303_7305delinsAAG |
p.R2435K |
Missense |
45/106 |
- |
1 |
19-38990637-G-A |
c.7304G>A |
p.R2435H |
Missense |
45/106 |
- |
16 |
19-38990637-G-T |
c.7304G>T |
p.R2435L |
Missense |
45/106 |
- |
9 |
19-38990638-CTG-C |
c.7308_7309del |
p.A2437Tfs*12 |
Frameshift |
45/106 |
- |
1 |
19-38991252-C-T |
c.7330C>T |
p.Q2444* |
Nonsense |
46/106 |
- |
1 |
19-38991258-G-A |
c.7336G>A |
p.G2446S |
Missense |
46/106 |
- |
1 |
19-38991276-C-T |
c.7354C>T |
p.R2452W |
Missense |
46/106 |
- |
16 |
19-38991277-G-C |
c.7355G>C |
p.R2452P |
Missense |
46/106 |
- |
1 |
19-38991280-T-C |
c.7358T>C |
p.I2453T |
Missense |
46/106 |
- |
3 |
19-38991282-C-G |
c.7360C>G |
p.R2454G |
Missense |
46/106 |
- |
1 |
19-38991282-C-T |
c.7360C>T |
p.R2454C |
Missense |
46/106 |
- |
12 |
19-38991283-G-A |
c.7361G>A |
p.R2454H |
Missense |
46/106 |
- |
14 |
19-38991286-C-G |
c.7364C>G |
p.A2455G |
Missense |
46/106 |
- |
1 |
19-38991294-C-T |
c.7372C>T |
p.R2458C |
Missense |
46/106 |
- |
10 |
19-38991295-G-A |
c.7373G>A |
p.R2458H |
Missense |
46/106 |
- |
12 |
19-38991295-G-T |
c.7373G>T |
p.R2458L |
Missense |
46/106 |
- |
1 |
19-38991303-GTG-ATC |
c.7381_7383delinsATC |
p.V2461I |
Missense |
46/106 |
- |
1 |
19-38991304-T-G |
c.7382T>G |
p.V2461G |
Missense |
46/106 |
- |
1 |
19-38991307-C-T |
c.7385C>T |
p.P2462L |
Missense |
46/106 |
- |
1 |
19-38991355-C-A |
c.7433C>A |
p.T2478N |
Missense |
46/106 |
- |
2 |
19-38991484-A-G |
c.7468A>G |
p.M2490V |
Missense |
47/106 |
- |
1 |
19-38991502-C-T |
c.7486C>T |
p.P2496S |
Missense |
47/106 |
- |
1 |
19-38991538-C-G |
c.7522C>G |
p.R2508G |
Missense |
47/106 |
- |
5 |
19-38991538-C-T |
c.7522C>T |
p.R2508C |
Missense |
47/106 |
- |
9 |
19-38991539-G-A |
c.7523G>A |
p.R2508H |
Missense |
47/106 |
- |
9 |
19-38991544-T-C |
c.7528T>C |
p.Y2510H |
Missense |
47/106 |
- |
1 |
19-38991553-G-A |
c.7537G>A |
p.E2513K |
Missense |
47/106 |
- |
1 |
19-38991562-G-A |
c.7546G>A |
p.D2516N |
Missense |
47/106 |
- |
1 |
19-38991600-C-A |
c.7584C>A |
p.P2528= |
Synonymous |
47/106 |
- |
1 |
19-38991600-C-G |
c.7584C>G |
p.P2528= |
Synonymous |
47/106 |
- |
1 |
19-38991600-C-T |
c.7584C>T |
p.P2528= |
Synonymous |
47/106 |
- |
1 |
19-38991601-G-A |
c.7585G>A |
p.D2529N |
Missense |
47/106 |
- |
1 |
19-38991629-C-T |
c.7613C>T |
p.T2538M |
Missense |
47/106 |
- |
1 |
19-38993179-G-A |
c.7647G>A |
p.A2549= |
Synonymous |
48/106 |
- |
1 |
19-38993179-G-C |
c.7647G>C |
p.A2549= |
Synonymous |
48/106 |
- |
1 |
19-38993179-G-T |
c.7647G>T |
p.A2549= |
Synonymous |
48/106 |
- |
1 |
19-38993186-C-A |
c.7654C>A |
p.R2552S |
Missense |
48/106 |
- |
1 |
19-38993204-G-A |
c.7672G>A |
p.V2558M |
Missense |
48/106 |
- |
1 |
19-38993231-C-T |
c.7699C>T |
p.P2567S |
Missense |
48/106 |
- |
1 |
19-38993232-C-T |
c.7700C>T |
p.P2567L |
Missense |
48/106 |
- |
1 |
19-38993241-C-T |
c.7709C>T |
p.A2570V |
Missense |
48/106 |
- |
1 |
19-38993268-T-C |
c.7736T>C |
p.V2579A |
Missense |
48/106 |
- |
1 |
19-38993268-T-G |
c.7736T>G |
p.V2579G |
Missense |
48/106 |
- |
1 |
19-38993269-G-A |
c.7737G>A |
p.V2579= |
Synonymous |
48/106 |
- |
1 |
19-38993269-G-C |
c.7737G>C |
p.V2579= |
Synonymous |
48/106 |
- |
1 |
19-38993269-G-T |
c.7737G>T |
p.V2579= |
Synonymous |
48/106 |
- |
1 |
19-38993279-C-T |
c.7747C>T |
p.L2583= |
Synonymous |
48/106 |
- |
1 |
19-38993281-G-A |
c.7749G>A |
p.L2583= |
Synonymous |
48/106 |
- |
1 |
19-38993281-G-C |
c.7749G>C |
p.L2583= |
Synonymous |
48/106 |
- |
1 |
19-38993281-G-T |
c.7749G>T |
p.L2583= |
Synonymous |
48/106 |
- |
1 |
19-38993287-C-T |
c.7755C>T |
p.T2585= |
Synonymous |
48/106 |
- |
1 |
19-38993288-G-A |
c.7756G>A |
p.V2586M |
Missense |
48/106 |
- |
1 |
19-38993301-C-T |
c.7769C>T |
p.S2590F |
Missense |
48/106 |
- |
1 |
19-38993304-G-A |
c.7772G>A |
p.R2591Q |
Missense |
48/106 |
- |
1 |
19-38993304-G-T |
c.7772G>T |
p.R2591L |
Missense |
48/106 |
- |
1 |
19-38993321-A-G |
c.7789A>G |
p.K2597E |
Missense |
48/106 |
- |
1 |
19-38993335-C-T |
c.7803C>T |
p.D2601= |
Synonymous |
48/106 |
- |
1 |
19-38993345-G-A |
c.7813G>A |
p.D2605N |
Missense |
48/106 |
- |
1 |
19-38993379-C-T |
c.7835+12C>T |
- |
IntronicSNV |
- |
48/105 |
1 |
19-38993516-G-A |
c.7836-4G>A |
- |
IntronicSNV |
- |
48/105 |
1 |
19-38993528-G-A |
c.7844G>A |
p.R2615H |
Missense |
49/106 |
- |
1 |
19-38993534-C-T |
c.7850C>T |
p.S2617L |
Missense |
49/106 |
- |
1 |
19-38993556-C-A |
c.7872C>A |
p.R2624= |
Synonymous |
49/106 |
- |
1 |
19-38993556-C-G |
c.7872C>G |
p.R2624= |
Synonymous |
49/106 |
- |
1 |
19-38993556-C-T |
c.7872C>T |
p.R2624= |
Synonymous |
49/106 |
- |
1 |
19-38993563-G-A |
c.7879G>A |
p.V2627M |
Missense |
49/106 |
- |
3 |
19-38993586-C-A |
c.7902C>A |
p.N2634K |
Missense |
49/106 |
- |
1 |
19-38994869-A-G |
c.7936A>G |
p.N2646D |
Missense |
50/106 |
- |
1 |
19-38994898-C-T |
c.7965C>T |
p.Y2655= |
Synonymous |
50/106 |
- |
1 |
19-38994909-C-T |
c.7976C>T |
p.T2659M |
Missense |
50/106 |
- |
1 |
19-38994910-G-A |
c.7977G>A |
p.T2659= |
Synonymous |
50/106 |
- |
2 |
19-38994910-G-C |
c.7977G>C |
p.T2659= |
Synonymous |
50/106 |
- |
2 |
19-38994910-G-T |
c.7977G>T |
p.T2659= |
Synonymous |
50/106 |
- |
2 |
19-38994924-T-A |
c.7991T>A |
p.F2664Y |
Missense |
50/106 |
- |
1 |
19-38994925-C-T |
c.7992C>T |
p.F2664= |
Synonymous |
50/106 |
- |
1 |
19-38994959-C-T |
c.8026C>T |
p.R2676W |
Missense |
50/106 |
- |
6 |
19-38994987-C-T |
c.8054C>T |
p.S2685F |
Missense |
50/106 |
- |
1 |
19-38995377-G-A |
c.8068-11G>A |
- |
IntronicSNV |
- |
50/105 |
1 |
19-38995412-A-G |
c.8092A>G |
p.M2698V |
Missense |
51/106 |
- |
1 |
19-38995438-T-A |
c.8118T>A |
p.I2706= |
Synonymous |
51/106 |
- |
1 |
19-38995438-T-C |
c.8118T>C |
p.I2706= |
Synonymous |
51/106 |
- |
1 |
19-38995457-G-A |
c.8137G>A |
p.D2713N |
Missense |
51/106 |
- |
1 |
19-38995459-CTA-C |
c.8141_8142del |
p.Y2714Cfs*8 |
Frameshift |
51/106 |
- |
1 |
19-38995475-T-C |
c.8155T>C |
p.Y2719H |
Missense |
51/106 |
- |
1 |
19-38995499-G-A |
c.8179G>A |
p.A2727T |
Missense |
51/106 |
- |
1 |
19-38995509-A-G |
c.8189A>G |
p.D2730G |
Missense |
51/106 |
- |
2 |
19-38995510-T-C |
c.8190T>C |
p.D2730= |
Synonymous |
51/106 |
- |
1 |
19-38995597-G-A |
c.8231+46G>A |
- |
IntronicSNV |
- |
51/105 |
1 |
19-38995692-T-C |
c.8281T>C |
p.Y2761H |
Missense |
52/106 |
- |
1 |
19-38995701-G-A |
c.8290G>A |
p.E2764K |
Missense |
52/106 |
- |
1 |
19-38995716-G-A |
c.8305G>A |
p.D2769N |
Missense |
52/106 |
- |
3 |
19-38995953-A-G |
c.8315A>G |
p.Q2772R |
Missense |
53/106 |
- |
1 |
19-38995965-C-T |
c.8327C>T |
p.S2776F |
Missense |
53/106 |
- |
3 |
19-38995975-G-A |
c.8337G>A |
p.E2779= |
Synonymous |
53/106 |
- |
1 |
19-38995978-CAT-C |
c.8342_8343del |
p.I2781Rfs*49 |
Frameshift |
53/106 |
- |
2 |
19-38995997-A-T |
c.8359A>T |
p.T2787S |
Missense |
53/106 |
- |
4 |
19-38995998-C-G |
c.8360C>G |
p.T2787S |
Missense |
53/106 |
- |
5 |
19-38996012-A-C |
c.8374A>C |
p.R2792= |
Synonymous |
53/106 |
- |
1 |
19-38996014-G-A |
c.8376G>A |
p.R2792= |
Synonymous |
53/106 |
- |
1 |
19-38996461-C-T |
c.8416C>T |
p.R2806C |
Missense |
54/106 |
- |
2 |
19-38996462-G-A |
c.8417G>A |
p.R2806H |
Missense |
54/106 |
- |
1 |
19-38996495-T-C |
c.8450T>C |
p.I2817T |
Missense |
54/106 |
- |
1 |
19-38996508-G-A |
c.8463G>A |
p.W2821* |
Nonsense |
54/106 |
- |
1 |
19-38996525-G-T |
c.8480G>T |
p.R2827M |
Missense |
54/106 |
- |
1 |
19-38996542-A-G |
c.8497A>G |
p.K2833E |
Missense |
54/106 |
- |
1 |
19-38996563-CGG-TGT |
c.8518_8520delinsTGT |
p.R2840C |
Missense |
54/106 |
- |
1 |
19-38996563-C-T |
c.8518C>T |
p.R2840W |
Missense |
54/106 |
- |
3 |
19-38996564-G-A |
c.8519G>A |
p.R2840Q |
Missense |
54/106 |
- |
1 |
19-38996572-TCA-GAC |
c.8527_8529delinsGAC |
p.S2843D |
Missense |
54/106 |
- |
2 |
19-38996572-T-G |
c.8527T>G |
p.S2843A |
Missense |
54/106 |
- |
2 |
19-38996575-C-T |
c.8530C>T |
p.Q2844* |
Nonsense |
54/106 |
- |
1 |
19-38996594-C-T |
c.8541+8C>T |
- |
IntronicSNV |
- |
54/105 |
1 |
19-38996955-C-T |
c.8554C>T |
p.R2852* |
Nonsense |
55/106 |
- |
2 |
19-38996956-G-A |
c.8555G>A |
p.R2852Q |
Missense |
55/106 |
- |
1 |
19-38996990-T-C |
c.8589T>C |
p.S2863= |
Synonymous |
55/106 |
- |
3 |
19-38997024-G-A |
c.8616+7G>A |
- |
IntronicSNV |
- |
55/105 |
1 |
19-38997117-G-A |
c.8623G>A |
p.A2875T |
Missense |
56/106 |
- |
1 |
19-38997148-C-G |
c.8654C>G |
p.T2885R |
Missense |
56/106 |
- |
1 |
19-38997156-C-T |
c.8662C>T |
p.R2888W |
Missense |
56/106 |
- |
1 |
19-38997317-G-A |
c.8692+131G>A |
- |
IntronicSNV |
- |
56/105 |
1 |
19-38997505-C-T |
c.8729C>T |
p.T2910M |
Missense |
57/106 |
- |
1 |
19-38997526-C-T |
c.8750C>T |
p.A2917V |
Missense |
57/106 |
- |
1 |
19-38997528-C-G |
c.8752C>G |
p.R2918G |
Missense |
57/106 |
- |
1 |
19-38997534-C-T |
c.8758C>T |
p.R2920* |
Nonsense |
57/106 |
- |
1 |
19-38997582-G-A |
c.8806G>A |
p.A2936T |
Missense |
57/106 |
- |
1 |
19-38997592-G-A |
c.8816G>A |
p.R2939K |
Missense |
57/106 |
- |
4 |
19-38998362-G-A |
c.8827G>A |
p.D2943N |
Missense |
58/106 |
- |
3 |
19-38998378-TC-T |
c.8843del |
p.S2948Cfs*58 |
Frameshift |
58/106 |
- |
1 |
19-38998405-T-C |
c.8870T>C |
p.F2957S |
Missense |
58/106 |
- |
1 |
19-38998423-T-C |
c.8888T>C |
p.L2963P |
Missense |
58/106 |
- |
3 |
19-38998455-A-T |
c.8920A>T |
p.I2974F |
Missense |
58/106 |
- |
1 |
19-39001154-T-C |
c.8949T>C |
p.S2983= |
Synonymous |
59/106 |
- |
1 |
19-39001158-C-T |
c.8953C>T |
p.R2985* |
Nonsense |
59/106 |
- |
2 |
19-39001165-A-G |
c.8960A>G |
p.E2987G |
Missense |
59/106 |
- |
1 |
19-39001196-C-A |
c.8991C>A |
p.F2997L |
Missense |
59/106 |
- |
1 |
19-39001288-A-G |
c.9001-12A>G |
- |
IntronicSNV |
- |
59/105 |
1 |
19-39001310-C-T |
c.9011C>T |
p.P3004L |
Missense |
60/106 |
- |
1 |
19-39001346-A-G |
c.9047A>G |
p.Y3016C |
Missense |
60/106 |
- |
1 |
19-39001362-G-A |
c.9063G>A |
p.P3021= |
Synonymous |
60/106 |
- |
1 |
19-39001369-G-A |
c.9070G>A |
p.V3024M |
Missense |
60/106 |
- |
1 |
19-39001380-C-T |
c.9081C>T |
p.S3027= |
Synonymous |
60/106 |
- |
1 |
19-39001411-A-G |
c.9112A>G |
p.M3038V |
Missense |
60/106 |
- |
1 |
19-39001420-A-G |
c.9121A>G |
p.S3041G |
Missense |
60/106 |
- |
1 |
19-39002223-C-T |
c.9145C>T |
p.L3049F |
Missense |
61/106 |
- |
1 |
19-39002226-G-A |
c.9148G>A |
p.V3050I |
Missense |
61/106 |
- |
1 |
19-39002229-C-T |
c.9151C>T |
p.R3051C |
Missense |
61/106 |
- |
1 |
19-39002230-G-A |
c.9152G>A |
p.R3051H |
Missense |
61/106 |
- |
2 |
19-39002235-C-T |
c.9157C>T |
p.R3053* |
Nonsense |
61/106 |
- |
2 |
19-39002238-GTCTC-G |
c.9166_9169del |
p.F3057Gfs*23 |
Frameshift |
61/106 |
- |
1 |
19-39002725-A-C |
c.9186A>C |
p.P3062= |
Synonymous |
62/106 |
- |
2 |
19-39002725-A-G |
c.9186A>G |
p.P3062= |
Synonymous |
62/106 |
- |
3 |
19-39002725-A-T |
c.9186A>T |
p.P3062= |
Synonymous |
62/106 |
- |
2 |
19-39002729-G-T |
c.9190G>T |
p.V3064L |
Missense |
62/106 |
- |
1 |
19-39002757-G-A |
c.9218G>A |
p.R3073H |
Missense |
62/106 |
- |
1 |
19-39002760-C-T |
c.9221C>T |
p.S3074F |
Missense |
62/106 |
- |
2 |
19-39002889-G-A |
c.9238G>A |
p.V3080M |
Missense |
63/106 |
- |
1 |
19-39002893-T-C |
c.9242T>C |
p.M3081T |
Missense |
63/106 |
- |
3 |
19-39002905-C-A |
c.9254C>A |
p.P3085H |
Missense |
63/106 |
- |
1 |
19-39002913-G-A |
c.9262G>A |
p.V3088M |
Missense |
63/106 |
- |
2 |
19-39002944-G-T |
c.9293G>T |
p.S3098I |
Missense |
63/106 |
- |
2 |
19-39002961-G-A |
c.9310G>A |
p.E3104K |
Missense |
63/106 |
- |
7 |
19-39002973-G-C |
c.9322G>C |
p.E3108Q |
Missense |
63/106 |
- |
1 |
19-39002983-G-A |
c.9332G>A |
p.R3111Q |
Missense |
63/106 |
- |
1 |
19-39002985-C-G |
c.9334C>G |
p.L3112V |
Missense |
63/106 |
- |
1 |
19-39002998-C-T |
c.9347C>T |
p.S3116L |
Missense |
63/106 |
- |
1 |
19-39003004-C-T |
c.9353C>T |
p.A3118V |
Missense |
63/106 |
- |
3 |
19-39003006-C-T |
c.9355C>T |
p.R3119C |
Missense |
63/106 |
- |
1 |
19-39003007-G-A |
c.9356G>A |
p.R3119H |
Missense |
63/106 |
- |
1 |
19-39003034-A-G |
c.9383A>G |
p.N3128S |
Missense |
63/106 |
- |
1 |
19-39003036-C-G |
c.9385C>G |
p.L3129V |
Missense |
63/106 |
- |
1 |
19-39003036-C-T |
c.9385C>T |
p.L3129F |
Missense |
63/106 |
- |
1 |
19-39003058-CT-C |
c.9407del |
p.L3136Rfs*75 |
Frameshift |
63/106 |
- |
2 |
19-39003064-C-T |
c.9413C>T |
p.P3138L |
Missense |
63/106 |
- |
1 |
19-39003076-C-T |
c.9425C>T |
p.T3142I |
Missense |
63/106 |
- |
1 |
19-39003103-A-G |
c.9452A>G |
p.Q3151R |
Missense |
63/106 |
- |
1 |
19-39003108-G-A |
c.9457G>A |
p.G3153R |
Missense |
63/106 |
- |
1 |
19-39003124-G-A |
c.9472+1G>A |
- |
IntronicSNV |
- |
63/105 |
1 |
19-39005671-G-A |
c.9478G>A |
p.D3160N |
Missense |
64/106 |
- |
1 |
19-39005688-C-A |
c.9495C>A |
p.C3165* |
Nonsense |
64/106 |
- |
1 |
19-39005706-T-C |
c.9513T>C |
p.S3171= |
Synonymous |
64/106 |
- |
1 |
19-39005716-C-G |
c.9523C>G |
p.L3175V |
Missense |
64/106 |
- |
1 |
19-39005743-G-GA |
c.9554dup |
p.L3186Afs*125 |
SpliceDonorInsertion |
- |
- |
1 |
19-39005848-A-G |
c.9554+101A>G |
- |
IntronicSNV |
- |
64/105 |
1 |
19-39006731-C-T |
c.9559C>T |
p.R3187W |
Missense |
65/106 |
- |
1 |
19-39006751-C-G |
c.9579C>G |
p.C3193W |
Missense |
65/106 |
- |
1 |
19-39006777-C-T |
c.9605C>T |
p.P3202L |
Missense |
65/106 |
- |
1 |
19-39006795-C-T |
c.9623C>T |
p.P3208L |
Missense |
65/106 |
- |
1 |
19-39006806-G-A |
c.9634G>A |
p.E3212K |
Missense |
65/106 |
- |
1 |
19-39006807-A-G |
c.9635A>G |
p.E3212G |
Missense |
65/106 |
- |
1 |
19-39006813-A-G |
c.9641A>G |
p.N3214S |
Missense |
65/106 |
- |
1 |
19-39006821-T-C |
c.9649T>C |
p.S3217P |
Missense |
65/106 |
- |
2 |
19-39006824-G-A |
c.9652G>A |
p.V3218M |
Missense |
65/106 |
- |
1 |
19-39006830-A-G |
c.9658A>G |
p.T3220A |
Missense |
65/106 |
- |
1 |
19-39006848-G-C |
c.9676G>C |
p.E3226Q |
Missense |
65/106 |
- |
1 |
19-39006852-G-A |
c.9680G>A |
p.R3227Q |
Missense |
65/106 |
- |
1 |
19-39008011-C-T |
c.9698C>T |
p.P3233L |
Missense |
66/106 |
- |
1 |
19-39008026-A-G |
c.9713A>G |
p.E3238G |
Missense |
66/106 |
- |
1 |
19-39008029-T-A |
c.9716T>A |
p.M3239K |
Missense |
66/106 |
- |
3 |
19-39008040-CATCCCG-C |
c.9727_9732del |
p.I3243_P3244del |
InFrameDeletion |
66/106 |
- |
1 |
19-39008055-C-T |
c.9742C>T |
p.R3248W |
Missense |
66/106 |
- |
1 |
19-39008068-A-T |
c.9755A>T |
p.D3252V |
Missense |
66/106 |
- |
1 |
19-39008071-T-C |
c.9758T>C |
p.I3253T |
Missense |
66/106 |
- |
6 |
19-39008085-G-A |
c.9772G>A |
p.E3258K |
Missense |
66/106 |
- |
1 |
19-39008096-C-A |
c.9783C>A |
p.A3261= |
Synonymous |
66/106 |
- |
1 |
19-39008096-C-G |
c.9783C>G |
p.A3261= |
Synonymous |
66/106 |
- |
1 |
19-39008096-C-T |
c.9783C>T |
p.A3261= |
Synonymous |
66/106 |
- |
1 |
19-39008097-C-T |
c.9784C>T |
p.R3262C |
Missense |
66/106 |
- |
1 |
19-39008107-A-G |
c.9794A>G |
p.E3265G |
Missense |
66/106 |
- |
1 |
19-39008109-A-C |
c.9796A>C |
p.M3266L |
Missense |
66/106 |
- |
1 |
19-39008114-G-A |
c.9801G>A |
p.P3267= |
Synonymous |
66/106 |
- |
1 |
19-39008127-A-G |
c.9814A>G |
p.I3272V |
Missense |
66/106 |
- |
1 |
19-39008160-C-T |
c.9847C>T |
p.R3283* |
Nonsense |
66/106 |
- |
2 |
19-39008161-G-A |
c.9848G>A |
p.R3283Q |
Missense |
66/106 |
- |
2 |
19-39008164-G-A |
c.9851G>A |
p.W3284* |
Nonsense |
66/106 |
- |
1 |
19-39008162-ATGG-A |
c.9853_9855del |
p.W3285del |
InFrameDeletion |
66/106 |
- |
1 |
19-39008172-C-T |
c.9859C>T |
p.R3287C |
Missense |
66/106 |
- |
1 |
19-39008184-G-A |
c.9871G>A |
p.A3291T |
Missense |
66/106 |
- |
1 |
19-39008199-C-G |
c.9886C>G |
p.L3296V |
Missense |
66/106 |
- |
1 |
19-39008205-G-A |
c.9892G>A |
p.A3298T |
Missense |
66/106 |
- |
2 |
19-39008209-G-T |
c.9896G>T |
p.G3299V |
Missense |
66/106 |
- |
1 |
19-39008225-C-A |
c.9912C>A |
p.C3304* |
Nonsense |
66/106 |
- |
1 |
19-39008229-G-A |
c.9916G>A |
p.A3306T |
Missense |
66/106 |
- |
1 |
19-39008254-C-G |
c.9941C>G |
p.S3314C |
Missense |
66/106 |
- |
1 |
19-39008287-A-G |
c.9974A>G |
p.N3325S |
Missense |
66/106 |
- |
1 |
19-39008304-G-A |
c.9991G>A |
p.E3331K |
Missense |
66/106 |
- |
1 |
19-39008307-G-A |
c.9994G>A |
p.A3332T |
Missense |
66/106 |
- |
1 |
19-39008331-G-A |
c.10018G>A |
p.V3340M |
Missense |
66/106 |
- |
1 |
19-39009854-T-C |
c.10019T>C |
p.V3340A |
Missense |
67/106 |
- |
1 |
19-39009877-C-T |
c.10042C>T |
p.R3348C |
Missense |
67/106 |
- |
2 |
19-39009878-G-A |
c.10043G>A |
p.R3348H |
Missense |
67/106 |
- |
1 |
19-39009883-C-A |
c.10048C>A |
p.R3350= |
Synonymous |
67/106 |
- |
1 |
19-39009885-G-A |
c.10050G>A |
p.R3350= |
Synonymous |
67/106 |
- |
1 |
19-39009885-G-C |
c.10050G>C |
p.R3350= |
Synonymous |
67/106 |
- |
1 |
19-39009885-G-T |
c.10050G>T |
p.R3350= |
Synonymous |
67/106 |
- |
1 |
19-39009886-C-A |
c.10051C>A |
p.P3351T |
Missense |
67/106 |
- |
1 |
19-39009906-C-A |
c.10071C>A |
p.H3357Q |
Missense |
67/106 |
- |
1 |
19-39009922-G-A |
c.10087G>A |
p.G3363R |
Missense |
67/106 |
- |
2 |
19-39009922-G-C |
c.10087G>C |
p.G3363R |
Missense |
67/106 |
- |
1 |
19-39009931-C-T |
c.10096C>T |
p.R3366C |
Missense |
67/106 |
- |
1 |
19-39009932-G-A |
c.10097G>A |
p.R3366H |
Missense |
67/106 |
- |
13 |
19-39009940-G-T |
c.10105G>T |
p.A3369S |
Missense |
67/106 |
- |
1 |
19-39009954-G-A |
c.10119G>A |
p.V3373= |
Synonymous |
67/106 |
- |
1 |
19-39009954-G-C |
c.10119G>C |
p.V3373= |
Synonymous |
67/106 |
- |
1 |
19-39009954-G-T |
c.10119G>T |
p.V3373= |
Synonymous |
67/106 |
- |
1 |
19-39010002-G-C |
c.10167G>C |
p.E3389D |
Missense |
67/106 |
- |
1 |
19-39010006-G-A |
c.10171G>A |
p.E3391K |
Missense |
67/106 |
- |
1 |
19-39010009-C-G |
c.10174C>G |
p.L3392V |
Missense |
67/106 |
- |
1 |
19-39010021-G-T |
c.10186G>T |
p.D3396Y |
Missense |
67/106 |
- |
1 |
19-39010024-G-A |
c.10189G>A |
p.E3397K |
Missense |
67/106 |
- |
1 |
19-39010039-T-G |
c.10204T>G |
p.C3402G |
Missense |
67/106 |
- |
1 |
19-39010042-C-T |
c.10207C>T |
p.R3403W |
Missense |
67/106 |
- |
1 |
19-39010054-G-A |
c.10219G>A |
p.A3407T |
Missense |
67/106 |
- |
1 |
19-39010054-G-T |
c.10219G>T |
p.A3407S |
Missense |
67/106 |
- |
1 |
19-39010075-C-T |
c.10240C>T |
p.R3414C |
Missense |
67/106 |
- |
1 |
19-39010087-A-G |
c.10252A>G |
p.N3418D |
Missense |
67/106 |
- |
1 |
19-39010090-A-G |
c.10255A>G |
p.N3419D |
Missense |
67/106 |
- |
1 |
19-39010101-G-A |
c.10259+7G>A |
- |
IntronicSNV |
- |
67/105 |
1 |
19-39013699-G-A |
c.10291G>A |
p.A3431T |
Missense |
68/106 |
- |
1 |
19-39013700-C-T |
c.10292C>T |
p.A3431V |
Missense |
68/106 |
- |
2 |
19-39013756-G-A |
c.10347+1G>A |
- |
IntronicSNV |
- |
68/105 |
2 |
19-39013866-C-T |
c.10357C>T |
p.R3453C |
Missense |
69/106 |
- |
1 |
19-39013937-C-T |
c.10428C>T |
p.S3476= |
Synonymous |
69/106 |
- |
1 |
19-39014184-T-C |
c.10440+235T>C |
- |
IntronicSNV |
- |
69/105 |
1 |
19-39014565-T-A |
c.10451T>A |
p.I3484K |
Missense |
70/106 |
- |
1 |
19-39014565-T-C |
c.10451T>C |
p.I3484T |
Missense |
70/106 |
- |
1 |
19-39014570-G-A |
c.10455+1G>A |
- |
IntronicSNV |
- |
70/105 |
1 |
19-39015987-C-T |
c.10471C>T |
p.Q3491* |
Nonsense |
71/106 |
- |
1 |
19-39015994-G-A |
c.10478G>A |
p.R3493H |
Missense |
71/106 |
- |
1 |
19-39015997-C-A |
c.10481C>A |
p.T3494N |
Missense |
71/106 |
- |
1 |
19-39016001-G-C |
c.10485G>C |
p.K3495N |
Missense |
71/106 |
- |
1 |
19-39016002-A-G |
c.10486A>G |
p.K3496E |
Missense |
71/106 |
- |
1 |
19-39016008-C-G |
c.10492C>G |
p.R3498G |
Missense |
71/106 |
- |
1 |
19-39016012-G-A |
c.10496G>A |
p.R3499Q |
Missense |
71/106 |
- |
1 |
19-39016021-G-A |
c.10505G>A |
p.R3502Q |
Missense |
71/106 |
- |
1 |
19-39016023-T-C |
c.10507T>C |
p.Y3503H |
Missense |
71/106 |
- |
1 |
19-39016027-C-T |
c.10511C>T |
p.S3504F |
Missense |
71/106 |
- |
1 |
19-39016032-C-A |
c.10516C>A |
p.Q3506K |
Missense |
71/106 |
- |
1 |
19-39016033-A-G |
c.10517A>G |
p.Q3506R |
Missense |
71/106 |
- |
1 |
19-39016042-T-C |
c.10526T>C |
p.L3509P |
Missense |
71/106 |
- |
1 |
19-39016047-G-A |
c.10531G>A |
p.V3511M |
Missense |
71/106 |
- |
1 |
19-39016053-A-G |
c.10537A>G |
p.T3513A |
Missense |
71/106 |
- |
1 |
19-39016057-TGAA-T |
c.10547_10549del |
p.K3516del |
InFrameDeletion |
71/106 |
- |
1 |
19-39016077-G-T |
c.10561G>T |
p.G3521C |
Missense |
71/106 |
- |
1 |
19-39016095-C-T |
c.10579C>T |
p.P3527S |
Missense |
71/106 |
- |
6 |
19-39016100-C-T |
c.10584C>T |
p.T3528= |
Synonymous |
71/106 |
- |
1 |
19-39016109-C-G |
c.10593C>G |
p.D3531E |
Missense |
71/106 |
- |
1 |
19-39016131-C-T |
c.10615C>T |
p.R3539C |
Missense |
71/106 |
- |
1 |
19-39016132-G-A |
c.10616G>A |
p.R3539H |
Missense |
71/106 |
- |
10 |
19-39016135-A-T |
c.10619A>T |
p.Y3540F |
Missense |
71/106 |
- |
1 |
19-39016138-C-A |
c.10622C>A |
p.A3541D |
Missense |
71/106 |
- |
1 |
19-39017654-C-T |
c.10648C>T |
p.R3550W |
Missense |
72/106 |
- |
1 |
19-39017668-C-G |
c.10662C>G |
p.H3554Q |
Missense |
72/106 |
- |
1 |
19-39017670-A-T |
c.10664A>T |
p.N3555I |
Missense |
72/106 |
- |
1 |
19-39017680-C-G |
c.10674C>G |
p.H3558Q |
Missense |
72/106 |
- |
1 |
19-39017687-G-A |
c.10681G>A |
p.G3561R |
Missense |
72/106 |
- |
1 |
19-39018329-C-T |
c.10729C>T |
p.R3577W |
Missense |
73/106 |
- |
2 |
19-39018347-G-C |
c.10747G>C |
p.E3583Q |
Missense |
73/106 |
- |
10 |
19-39018360-A-G |
c.10760A>G |
p.D3587G |
Missense |
73/106 |
- |
1 |
19-39018368-G-A |
c.10768G>A |
p.E3590K |
Missense |
73/106 |
- |
1 |
19-39018407-C-T |
c.10807C>T |
p.L3603F |
Missense |
73/106 |
- |
1 |
19-39018416-CTG-TTT |
c.10816_10818delinsTTT |
p.L3606F |
Missense |
73/106 |
- |
1 |
19-39018417-T-C |
c.10817T>C |
p.L3606P |
Missense |
73/106 |
- |
1 |
19-39018421-C-G |
c.10821C>G |
p.D3607E |
Missense |
73/106 |
- |
1 |
19-39018973-G-A |
c.10852G>A |
p.A3618T |
Missense |
74/106 |
- |
1 |
19-39019006-C-T |
c.10885C>T |
p.R3629W |
Missense |
74/106 |
- |
1 |
19-39019242-C-A |
c.10941C>A |
p.H3647Q |
Missense |
75/106 |
- |
1 |
19-39019242-C-G |
c.10941C>G |
p.H3647Q |
Missense |
75/106 |
- |
3 |
19-39019247-C-T |
c.10946C>T |
p.A3649V |
Missense |
75/106 |
- |
1 |
19-39019255-A-G |
c.10954A>G |
p.M3652V |
Missense |
75/106 |
- |
1 |
19-39019259-TC-T |
c.10960del |
p.L3654Wfs*10 |
Frameshift |
75/106 |
- |
1 |
19-39019315-C-A |
c.11014C>A |
p.R3672S |
Missense |
75/106 |
- |
1 |
19-39019316-G-A |
c.11015G>A |
p.R3672H |
Missense |
75/106 |
- |
1 |
19-39019603-CAGG-C |
c.11061_11063del |
p.E3689del |
InFrameDeletion |
76/106 |
- |
2 |
19-39019666-C-T |
c.11110C>T |
p.H3704Y |
Missense |
76/106 |
- |
1 |
19-39019676-G-A |
c.11120G>A |
p.R3707H |
Missense |
76/106 |
- |
1 |
19-39019682-C-T |
c.11126C>T |
p.A3709V |
Missense |
76/106 |
- |
1 |
19-39019688-C-G |
c.11132C>G |
p.T3711R |
Missense |
76/106 |
- |
2 |
19-39019688-C-T |
c.11132C>T |
p.T3711M |
Missense |
76/106 |
- |
1 |
19-39019691-A-G |
c.11135A>G |
p.E3712G |
Missense |
76/106 |
- |
1 |
19-39023315-G-A |
c.11198G>A |
p.C3733Y |
Missense |
78/106 |
- |
1 |
19-39023320-C-A |
c.11203C>A |
p.L3735M |
Missense |
78/106 |
- |
1 |
19-39025366-C-G |
c.11266C>G |
p.Q3756E |
Missense |
79/106 |
- |
4 |
19-39025369-A-G |
c.11269A>G |
p.M3757V |
Missense |
79/106 |
- |
1 |
19-39025374-G-A |
c.11274G>A |
p.E3758= |
Synonymous |
79/106 |
- |
1 |
19-39025399-G-A |
c.11299G>A |
p.A3767T |
Missense |
79/106 |
- |
1 |
19-39025402-C-T |
c.11302C>T |
p.R3768W |
Missense |
79/106 |
- |
1 |
19-39025414-C-T |
c.11314C>T |
p.R3772W |
Missense |
79/106 |
- |
7 |
19-39025415-G-A |
c.11315G>A |
p.R3772Q |
Missense |
79/106 |
- |
8 |
19-39025421-C-T |
c.11321C>T |
p.A3774V |
Missense |
79/106 |
- |
3 |
19-39025451-C-T |
c.11351C>T |
p.A3784V |
Missense |
79/106 |
- |
1 |
19-39025847-C-T |
c.11426C>T |
p.A3809V |
Missense |
80/106 |
- |
1 |
19-39025959-A-T |
c.11443A>T |
p.M3815L |
Missense |
81/106 |
- |
1 |
19-39025966-A-T |
c.11450A>T |
p.D3817V |
Missense |
81/106 |
- |
1 |
19-39025982-G-C |
c.11466G>C |
p.K3822N |
Missense |
81/106 |
- |
1 |
19-39025982-G-T |
c.11466G>T |
p.K3822N |
Missense |
81/106 |
- |
1 |
19-39025993-G-T |
c.11477G>T |
p.G3826V |
Missense |
81/106 |
- |
1 |
19-39025994-C-T |
c.11478C>T |
p.G3826= |
Synonymous |
81/106 |
- |
1 |
19-39026638-G-A |
c.11518G>A |
p.V3840I |
Missense |
82/106 |
- |
2 |
19-39026650-A-C |
c.11530A>C |
p.N3844H |
Missense |
82/106 |
- |
1 |
19-39026659-G-C |
c.11539G>C |
p.E3847Q |
Missense |
82/106 |
- |
1 |
19-39026661-G-C |
c.11541G>C |
p.E3847D |
Missense |
82/106 |
- |
1 |
19-39026661-G-T |
c.11541G>T |
p.E3847D |
Missense |
82/106 |
- |
1 |
19-39026667-G-A |
c.11547G>A |
p.Q3849= |
Synonymous |
82/106 |
- |
2 |
19-39026677-G-A |
c.11557G>A |
p.E3853K |
Missense |
82/106 |
- |
4 |
19-39026784-G-C |
c.11590+74G>C |
- |
IntronicSNV |
- |
82/105 |
1 |
19-39027398-C-T |
c.11599C>T |
p.R3867C |
Missense |
83/106 |
- |
1 |
19-39027405-A-G |
c.11606A>G |
p.N3869S |
Missense |
83/106 |
- |
1 |
19-39028562-T-C |
c.11651T>C |
p.F3884S |
Missense |
84/106 |
- |
1 |
19-39028564-C-T |
c.11653C>T |
p.R3885* |
Nonsense |
84/106 |
- |
1 |
19-39028573-C-T |
c.11662C>T |
p.Q3888* |
Nonsense |
84/106 |
- |
1 |
19-39034005-G-A |
c.11708G>A |
p.R3903Q |
Missense |
85/106 |
- |
6 |
19-39034020-A-T |
c.11723A>T |
p.N3908I |
Missense |
85/106 |
- |
2 |
19-39034023-C-T |
c.11726C>T |
p.T3909M |
Missense |
85/106 |
- |
1 |
19-39034045-T-G |
c.11748T>G |
p.I3916M |
Missense |
85/106 |
- |
1 |
19-39034060-C-A |
c.11763C>A |
p.Y3921* |
Nonsense |
85/106 |
- |
1 |
19-39034075-G-A |
c.11778G>A |
p.Q3926= |
Synonymous |
85/106 |
- |
1 |
19-39034181-A-T |
c.11788A>T |
p.S3930C |
Missense |
86/106 |
- |
1 |
19-39034186-C-G |
c.11793C>G |
p.D3931E |
Missense |
86/106 |
- |
1 |
19-39034191-A-G |
c.11798A>G |
p.Y3933C |
Missense |
86/106 |
- |
14 |
19-39034206-G-A |
c.11813G>A |
p.G3938D |
Missense |
86/106 |
- |
2 |
19-39034230-G-A |
c.11837G>A |
p.G3946D |
Missense |
86/106 |
- |
1 |
19-39034286-A-C |
c.11893A>C |
p.T3965P |
Missense |
86/106 |
- |
1 |
19-39034298-C-A |
c.11905C>A |
p.Q3969K |
Missense |
86/106 |
- |
1 |
19-39034429-C-T |
c.11926C>T |
p.Q3976* |
Nonsense |
87/106 |
- |
1 |
19-39034444-C-T |
c.11941C>T |
p.H3981Y |
Missense |
87/106 |
- |
5 |
19-39034450-C-T |
c.11947C>T |
p.R3983C |
Missense |
87/106 |
- |
2 |
19-39034451-G-A |
c.11948G>A |
p.R3983H |
Missense |
87/106 |
- |
1 |
19-39034456-T-A |
c.11953T>A |
p.W3985R |
Missense |
87/106 |
- |
2 |
19-39034456-T-C |
c.11953T>C |
p.W3985R |
Missense |
87/106 |
- |
2 |
19-39034461-C-A |
c.11958C>A |
p.D3986E |
Missense |
87/106 |
- |
1 |
19-39034461-C-G |
c.11958C>G |
p.D3986E |
Missense |
87/106 |
- |
7 |
19-39034472-G-T |
c.11969G>T |
p.G3990V |
Missense |
87/106 |
- |
7 |
19-39034494-CATG-C |
c.11999_12001del |
p.M4000del |
InFrameDeletion |
87/106 |
- |
2 |
19-39034534-T-C |
c.12012+19T>C |
- |
IntronicSNV |
- |
87/105 |
1 |
19-39037074-G-A |
c.12013-11G>A |
- |
IntronicSNV |
- |
87/105 |
1 |
19-39037100-G-A |
c.12028G>A |
p.E4010K |
Missense |
88/106 |
- |
1 |
19-39037135-AC-A |
c.12063del |
p.D4021Efs*4 |
Frameshift |
88/106 |
- |
1 |
19-39037155-C-T |
c.12083C>T |
p.S4028L |
Missense |
88/106 |
- |
5 |
19-39038884-A-G |
c.12106A>G |
p.N4036D |
Missense |
89/106 |
- |
1 |
19-39038886-CG-C |
c.12110del |
p.G4037Afs*2 |
Frameshift |
89/106 |
- |
1 |
19-39038899-C-T |
c.12121C>T |
p.R4041W |
Missense |
89/106 |
- |
1 |
19-39038908-G-C |
c.12130G>C |
p.V4044L |
Missense |
89/106 |
- |
1 |
19-39038914-A-G |
c.12136A>G |
p.M4046V |
Missense |
89/106 |
- |
1 |
19-39038927-C-A |
c.12149C>A |
p.S4050Y |
Missense |
89/106 |
- |
1 |
19-39038955-G-C |
c.12177G>C |
p.K4059N |
Missense |
89/106 |
- |
1 |
19-39038955-G-T |
c.12177G>T |
p.K4059N |
Missense |
89/106 |
- |
1 |
19-39038965-A-G |
c.12187A>G |
p.M4063V |
Missense |
89/106 |
- |
1 |
19-39038981-A-G |
c.12203A>G |
p.K4068R |
Missense |
89/106 |
- |
1 |
19-39038992-G-T |
c.12214G>T |
p.G4072C |
Missense |
89/106 |
- |
1 |
19-39039020-C-T |
c.12242C>T |
p.T4081M |
Missense |
89/106 |
- |
2 |
19-39039028-C-T |
c.12250C>T |
p.R4084C |
Missense |
89/106 |
- |
1 |
19-39039059-AGGTG-A |
c.12282+4_12282+7del |
- |
SpliceDonorDeletion |
- |
89/105 |
1 |
19-39050479-G-A |
c.12283-1274G>A |
- |
IntronicSNV |
- |
89/105 |
1 |
19-39050479-G-C |
c.12283-1274G>C |
- |
IntronicSNV |
- |
89/105 |
1 |
19-39051781-GTCCAGAAATCCAGT-G |
c.12315_12328del |
p.E4106Afs*8 |
Frameshift |
90/106 |
- |
1 |
19-39051792-C-G |
c.12322C>G |
p.Q4108E |
Missense |
90/106 |
- |
1 |
19-39051805-C-T |
c.12335C>T |
p.S4112L |
Missense |
90/106 |
- |
2 |
19-39051813-G-A |
c.12343G>A |
p.E4115K |
Missense |
90/106 |
- |
1 |
19-39051844-GAAGAGTTCGCCAACCGCTTCCA-G |
c.12374_12395del |
p.E4125Gfs*15 |
Frameshift |
90/106 |
- |
1 |
19-39051868-A-G |
c.12398A>G |
p.E4133G |
Missense |
90/106 |
- |
1 |
19-39051873-G-T |
c.12403G>T |
p.A4135S |
Missense |
90/106 |
- |
1 |
19-39051876-C-A |
c.12406C>A |
p.R4136S |
Missense |
90/106 |
- |
1 |
19-39051883-T-C |
c.12413T>C |
p.I4138T |
Missense |
90/106 |
- |
1 |
19-39051898-C-T |
c.12428C>T |
p.A4143V |
Missense |
90/106 |
- |
2 |
19-39051919-C-G |
c.12449C>G |
p.S4150W |
Missense |
90/106 |
- |
1 |
19-39051932-G-A |
c.12462G>A |
p.P4154= |
Synonymous |
90/106 |
- |
1 |
19-39051969-G-A |
c.12499G>A |
p.E4167K |
Missense |
90/106 |
- |
1 |
19-39051969-G-T |
c.12499G>T |
p.E4167* |
Nonsense |
90/106 |
- |
2 |
19-39051978-CT-AG |
c.12508_12509inv |
p.L4170S |
Missense |
90/106 |
- |
1 |
19-39052002-G-A |
c.12532G>A |
p.G4178S |
Missense |
90/106 |
- |
1 |
19-39052003-G-T |
c.12533G>T |
p.G4178V |
Missense |
90/106 |
- |
1 |
19-39052006-G-A |
c.12536G>A |
p.R4179H |
Missense |
90/106 |
- |
2 |
19-39052011-G-A |
c.12541G>A |
p.E4181K |
Missense |
90/106 |
- |
1 |
19-39052023-G-A |
c.12553G>A |
p.A4185T |
Missense |
90/106 |
- |
4 |
19-39052050-T-C |
c.12580T>C |
p.F4194L |
Missense |
90/106 |
- |
1 |
19-39052069-A-G |
c.12599A>G |
p.N4200S |
Missense |
90/106 |
- |
1 |
19-39052082-G-A |
c.12612G>A |
p.W4204* |
Nonsense |
90/106 |
- |
1 |
19-39055603-A-G |
c.12629A>G |
p.K4210R |
Missense |
91/106 |
- |
2 |
19-39055608-T-G |
c.12634T>G |
p.S4212A |
Missense |
91/106 |
- |
1 |
19-39055663-T-G |
c.12689T>G |
p.M4230R |
Missense |
91/106 |
- |
2 |
19-39055674-G-C |
c.12700G>C |
p.V4234L |
Missense |
91/106 |
- |
5 |
19-39055674-G-T |
c.12700G>T |
p.V4234L |
Missense |
91/106 |
- |
5 |
19-39055751-CGACGAG-C |
c.12785_12790del |
p.D4262_E4263del |
InFrameDeletion |
91/106 |
- |
1 |
19-39055761-G-A |
c.12787G>A |
p.E4263K |
Missense |
91/106 |
- |
1 |
19-39055762-AGGGCGC-A |
c.12797_12802del |
p.G4266_A4267del |
InFrameDeletion |
91/106 |
- |
1 |
19-39055771-G-A |
c.12797G>A |
p.G4266D |
Missense |
91/106 |
- |
1 |
19-39055774-C-T |
c.12800C>T |
p.A4267V |
Missense |
91/106 |
- |
1 |
19-39055783-C-A |
c.12809C>A |
p.A4270E |
Missense |
91/106 |
- |
1 |
19-39055809-G-A |
c.12835G>A |
p.A4279T |
Missense |
91/106 |
- |
1 |
19-39055813-C-T |
c.12839C>T |
p.A4280V |
Missense |
91/106 |
- |
1 |
19-39055818-C-G |
c.12844C>G |
p.L4282V |
Missense |
91/106 |
- |
1 |
19-39055821-G-A |
c.12847G>A |
p.E4283K |
Missense |
91/106 |
- |
1 |
19-39055824-G-C |
c.12850G>C |
p.G4284R |
Missense |
91/106 |
- |
1 |
19-39055834-C-T |
c.12860C>T |
p.A4287V |
Missense |
91/106 |
- |
1 |
19-39055825-GCACGGCGGC-G |
c.12861_12869del |
p.T4288_A4290del |
InFrameDeletion |
91/106 |
- |
1 |
19-39055843-C-T |
c.12869C>T |
p.A4290V |
Missense |
91/106 |
- |
1 |
19-39055844-G-GACAGCAGCA |
c.12870_12871insACAGCAGCA |
p.T4288_A4290dup |
InFrameInsertion |
91/106 |
- |
1 |
19-39055852-C-T |
c.12878C>T |
p.A4293V |
Missense |
91/106 |
- |
1 |
19-39055853-G-A |
c.12879G>A |
p.A4293= |
Synonymous |
91/106 |
- |
1 |
19-39055853-G-C |
c.12879G>C |
p.A4293= |
Synonymous |
91/106 |
- |
1 |
19-39055853-G-T |
c.12879G>T |
p.A4293= |
Synonymous |
91/106 |
- |
1 |
19-39055854-A-G |
c.12880A>G |
p.T4294A |
Missense |
91/106 |
- |
3 |
19-39055855-C-T |
c.12881C>T |
p.T4294M |
Missense |
91/106 |
- |
2 |
19-39055858-C-T |
c.12884C>T |
p.A4295V |
Missense |
91/106 |
- |
4 |
19-39055860-C-T |
c.12886C>T |
p.R4296W |
Missense |
91/106 |
- |
1 |
19-39055881-C-G |
c.12907C>G |
p.R4303G |
Missense |
91/106 |
- |
1 |
19-39055926-C-G |
c.12952C>G |
p.R4318G |
Missense |
91/106 |
- |
1 |
19-39055930-G-A |
c.12956G>A |
p.R4319Q |
Missense |
91/106 |
- |
1 |
19-39055923-GTGCGGCGGC-G |
c.12960_12968del |
p.R4321_L4323del |
InFrameDeletion |
91/106 |
- |
2 |
19-39055936-G-T |
c.12962G>T |
p.R4321L |
Missense |
91/106 |
- |
1 |
19-39055938-C-CGGCTTAGGA |
c.12970_12971insGGAGGCTTA |
p.R4321_L4323dup |
InFrameInsertion |
91/106 |
- |
1 |
19-39055960-C-A |
c.12986C>A |
p.A4329D |
Missense |
91/106 |
- |
5 |
19-39055963-C-T |
c.12989C>T |
p.T4330I |
Missense |
91/106 |
- |
1 |
19-39055965-G-A |
c.12991G>A |
p.A4331T |
Missense |
91/106 |
- |
1 |
19-39055966-C-A |
c.12992C>A |
p.A4331E |
Missense |
91/106 |
- |
1 |
19-39055996-C-T |
c.13022C>T |
p.T4341M |
Missense |
91/106 |
- |
1 |
19-39056001-G-A |
c.13027G>A |
p.A4343T |
Missense |
91/106 |
- |
1 |
19-39056004-G-A |
c.13030G>A |
p.G4344R |
Missense |
91/106 |
- |
1 |
19-39056008-C-A |
c.13034C>A |
p.A4345D |
Missense |
91/106 |
- |
1 |
19-39056008-CC-AG |
c.13034_13035delinsAG |
p.A4345E |
Missense |
91/106 |
- |
1 |
19-39056067-G-A |
c.13093G>A |
p.G4365S |
Missense |
91/106 |
- |
1 |
19-39056154-G-A |
c.13180G>A |
p.E4394K |
Missense |
91/106 |
- |
1 |
19-39056210-T-TAGCGAGGGTGCA |
c.13236_13237insAGCGAGGGTGCA |
p.S4409_A4412dup |
InFrameInsertion |
91/106 |
- |
1 |
19-39056233-G-T |
c.13259G>T |
p.G4420V |
Missense |
91/106 |
- |
1 |
19-39056235-G-A |
c.13261G>A |
p.D4421N |
Missense |
91/106 |
- |
1 |
19-39056253-C-T |
c.13279C>T |
p.H4427Y |
Missense |
91/106 |
- |
1 |
19-39056298-G-A |
c.13324G>A |
p.D4442N |
Missense |
91/106 |
- |
1 |
19-39056305-GC-G |
c.13335del |
p.F4446Sfs*105 |
Frameshift |
91/106 |
- |
1 |
19-39056343-A-T |
c.13369A>T |
p.M4457L |
Missense |
91/106 |
- |
1 |
19-39056353-C-T |
c.13379C>T |
p.T4460M |
Missense |
91/106 |
- |
1 |
19-39056362-C-T |
c.13388C>T |
p.A4463V |
Missense |
91/106 |
- |
1 |
19-39057554-G-T |
c.13441G>T |
p.D4481Y |
Missense |
92/106 |
- |
1 |
19-39057566-G-A |
c.13453G>A |
p.E4485K |
Missense |
92/106 |
- |
1 |
19-39057576-C-T |
c.13463C>T |
p.P4488L |
Missense |
92/106 |
- |
1 |
19-39057581-G-A |
c.13468G>A |
p.E4490K |
Missense |
92/106 |
- |
1 |
19-39057590-C-G |
c.13477C>G |
p.P4493A |
Missense |
92/106 |
- |
1 |
19-39057596-C-T |
c.13483C>T |
p.P4495S |
Missense |
92/106 |
- |
1 |
19-39057597-C-T |
c.13484C>T |
p.P4495L |
Missense |
92/106 |
- |
4 |
19-39057598-G-A |
c.13485G>A |
p.P4495= |
Synonymous |
92/106 |
- |
1 |
19-39057598-G-C |
c.13485G>C |
p.P4495= |
Synonymous |
92/106 |
- |
1 |
19-39057598-G-T |
c.13485G>T |
p.P4495= |
Synonymous |
92/106 |
- |
1 |
19-39057611-G-A |
c.13498G>A |
p.E4500K |
Missense |
92/106 |
- |
1 |
19-39057615-C-T |
c.13502C>T |
p.P4501L |
Missense |
92/106 |
- |
4 |
19-39057618-A-G |
c.13505A>G |
p.E4502G |
Missense |
92/106 |
- |
3 |
19-39057626-G-C |
c.13513G>C |
p.D4505H |
Missense |
92/106 |
- |
12 |
19-39058441-C-T |
c.13543C>T |
p.P4515S |
Missense |
93/106 |
- |
1 |
19-39058445-A-G |
c.13547A>G |
p.E4516G |
Missense |
93/106 |
- |
1 |
19-39058463-C-T |
c.13565C>T |
p.P4522L |
Missense |
93/106 |
- |
1 |
19-39058515-C-T |
c.13617C>T |
p.G4539= |
Synonymous |
93/106 |
- |
1 |
19-39058537-G-A |
c.13639G>A |
p.V4547M |
Missense |
93/106 |
- |
1 |
19-39061252-C-A |
c.13665C>A |
p.Y4555* |
Nonsense |
94/106 |
- |
1 |
19-39061252-C-G |
c.13665C>G |
p.Y4555* |
Nonsense |
94/106 |
- |
1 |
19-39061259-C-T |
c.13672C>T |
p.R4558W |
Missense |
94/106 |
- |
2 |
19-39061260-G-A |
c.13673G>A |
p.R4558Q |
Missense |
94/106 |
- |
4 |
19-39061267-T-C |
c.13680T>C |
p.F4560= |
Synonymous |
94/106 |
- |
1 |
19-39061278-G-A |
c.13691G>A |
p.R4564Q |
Missense |
94/106 |
- |
2 |
19-39061290-T-C |
c.13703T>C |
p.L4568P |
Missense |
94/106 |
- |
1 |
19-39061311-A-C |
c.13724A>C |
p.N4575T |
Missense |
94/106 |
- |
3 |
19-39062678-G-A |
c.13766G>A |
p.G4589E |
Missense |
95/106 |
- |
1 |
19-39062695-G-T |
c.13783G>T |
p.G4595C |
Missense |
95/106 |
- |
1 |
19-39062696-G-C |
c.13784G>C |
p.G4595A |
Missense |
95/106 |
- |
1 |
19-39062718-A-C |
c.13806A>C |
p.S4602= |
Synonymous |
95/106 |
- |
1 |
19-39062718-A-G |
c.13806A>G |
p.S4602= |
Synonymous |
95/106 |
- |
1 |
19-39062718-A-T |
c.13806A>T |
p.S4602= |
Synonymous |
95/106 |
- |
1 |
19-39062726-G-C |
c.13814G>C |
p.G4605A |
Missense |
95/106 |
- |
1 |
19-39062759-C-A |
c.13847C>A |
p.A4616D |
Missense |
95/106 |
- |
1 |
19-39062797-G-A |
c.13885G>A |
p.V4629M |
Missense |
95/106 |
- |
1 |
19-39062821-A-G |
c.13909A>G |
p.T4637A |
Missense |
95/106 |
- |
2 |
19-39062822-C-T |
c.13910C>T |
p.T4637I |
Missense |
95/106 |
- |
3 |
19-39062830-A-G |
c.13918A>G |
p.M4640V |
Missense |
95/106 |
- |
1 |
19-39062831-T-G |
c.13919T>G |
p.M4640R |
Missense |
95/106 |
- |
2 |
19-39062832-G-A |
c.13920G>A |
p.M4640I |
Missense |
95/106 |
- |
1 |
19-39062845-C-T |
c.13933C>T |
p.R4645W |
Missense |
95/106 |
- |
1 |
19-39062846-G-A |
c.13934G>A |
p.R4645Q |
Missense |
95/106 |
- |
2 |
19-39062852-T-C |
c.13940T>C |
p.L4647P |
Missense |
95/106 |
- |
1 |
19-39062861-T-C |
c.13949T>C |
p.L4650P |
Missense |
95/106 |
- |
1 |
19-39062864-A-G |
c.13952A>G |
p.H4651R |
Missense |
95/106 |
- |
2 |
19-39062902-T-C |
c.13990T>C |
p.C4664R |
Missense |
95/106 |
- |
2 |
19-39063821-C-G |
c.14003C>G |
p.P4668R |
Missense |
96/106 |
- |
1 |
19-39063838-C-T |
c.14020C>T |
p.R4674W |
Missense |
96/106 |
- |
1 |
19-39063862-C-T |
c.14044C>T |
p.L4682= |
Synonymous |
96/106 |
- |
1 |
19-39063864-G-A |
c.14046G>A |
p.L4682= |
Synonymous |
96/106 |
- |
1 |
19-39063864-G-C |
c.14046G>C |
p.L4682= |
Synonymous |
96/106 |
- |
1 |
19-39063864-G-T |
c.14046G>T |
p.L4682= |
Synonymous |
96/106 |
- |
1 |
19-39063879-G-A |
c.14061G>A |
p.L4687= |
Synonymous |
96/106 |
- |
1 |
19-39063884-T-A |
c.14066T>A |
p.I4689N |
Missense |
96/106 |
- |
1 |
19-39063898-G-A |
c.14080G>A |
p.E4694K |
Missense |
96/106 |
- |
1 |
19-39063928-C-T |
c.14110C>T |
p.R4704* |
Nonsense |
96/106 |
- |
1 |
19-39063944-C-T |
c.14126C>T |
p.T4709M |
Missense |
96/106 |
- |
9 |
19-39063947-C-T |
c.14129C>T |
p.P4710L |
Missense |
96/106 |
- |
1 |
19-39066570-G-A |
c.14141G>A |
p.S4714N |
Missense |
97/106 |
- |
1 |
19-39066596-C-T |
c.14167C>T |
p.R4723C |
Missense |
97/106 |
- |
1 |
19-39066597-G-A |
c.14168G>A |
p.R4723H |
Missense |
97/106 |
- |
1 |
19-39066599-A-C |
c.14170A>C |
p.K4724Q |
Missense |
97/106 |
- |
1 |
19-39068582-T-C |
c.14197T>C |
p.Y4733H |
Missense |
98/106 |
- |
1 |
19-39068588-CG-GA |
c.14203_14204delinsGA |
p.R4735E |
Missense |
98/106 |
- |
1 |
19-39068589-G-A |
c.14204G>A |
p.R4735Q |
Missense |
98/106 |
- |
1 |
19-39068590-G-A |
c.14205G>A |
p.R4735= |
Synonymous |
98/106 |
- |
1 |
19-39068594-C-T |
c.14209C>T |
p.R4737W |
Missense |
98/106 |
- |
3 |
19-39068595-G-A |
c.14210G>A |
p.R4737Q |
Missense |
98/106 |
- |
8 |
19-39068641-A-C |
c.14256A>C |
p.T4752= |
Synonymous |
98/106 |
- |
1 |
19-39068642-G-A |
c.14257G>A |
p.A4753T |
Missense |
98/106 |
- |
1 |
19-39068645-C-T |
c.14260C>T |
p.H4754Y |
Missense |
98/106 |
- |
1 |
19-39068655-G-A |
c.14270G>A |
p.R4757H |
Missense |
98/106 |
- |
2 |
19-39068667-C-A |
c.14282C>A |
p.P4761Q |
Missense |
98/106 |
- |
2 |
19-39068667-C-T |
c.14282C>T |
p.P4761L |
Missense |
98/106 |
- |
1 |
19-39068824-G-A |
c.14344G>A |
p.G4782R |
Missense |
99/106 |
- |
6 |
19-39068824-G-C |
c.14344G>C |
p.G4782R |
Missense |
99/106 |
- |
1 |
19-39070643-T-C |
c.14386T>C |
p.Y4796H |
Missense |
100/106 |
- |
1 |
19-39070644-A-G |
c.14387A>G |
p.Y4796C |
Missense |
100/106 |
- |
8 |
19-39070668-A-C |
c.14411A>C |
p.H4804P |
Missense |
100/106 |
- |
1 |
19-39070671-A-G |
c.14414A>G |
p.Y4805C |
Missense |
100/106 |
- |
1 |
19-39070676-AA-TT |
c.14419_14420inv |
p.N4807F |
Missense |
100/106 |
- |
1 |
19-39070676-A-G |
c.14419A>G |
p.N4807D |
Missense |
100/106 |
- |
1 |
19-39070676-A-T |
c.14419A>T |
p.N4807Y |
Missense |
100/106 |
- |
1 |
19-39070677-A-G |
c.14420A>G |
p.N4807S |
Missense |
100/106 |
- |
1 |
19-39070677-A-T |
c.14420A>T |
p.N4807I |
Missense |
100/106 |
- |
1 |
19-39070679-TT-AA |
c.14422_14423inv |
p.F4808N |
Missense |
100/106 |
- |
2 |
19-39070681-C-A |
c.14424C>A |
p.F4808L |
Missense |
100/106 |
- |
2 |
19-39070703-G-A |
c.14446G>A |
p.D4816N |
Missense |
100/106 |
- |
1 |
19-39070704-A-G |
c.14447A>G |
p.D4816G |
Missense |
100/106 |
- |
1 |
19-39070706-A-G |
c.14449A>G |
p.I4817V |
Missense |
100/106 |
- |
1 |
19-39070715-G-A |
c.14458G>A |
p.G4820R |
Missense |
100/106 |
- |
3 |
19-39070715-G-C |
c.14458G>C |
p.G4820R |
Missense |
100/106 |
- |
1 |
19-39070725-C-T |
c.14468C>T |
p.T4823M |
Missense |
100/106 |
- |
2 |
19-39070728-T-C |
c.14471T>C |
p.L4824P |
Missense |
100/106 |
- |
2 |
19-39070730-C-T |
c.14473C>T |
p.R4825C |
Missense |
100/106 |
- |
3 |
19-39070731-G-A |
c.14474G>A |
p.R4825H |
Missense |
100/106 |
- |
1 |
19-39070734-C-T |
c.14477C>T |
p.T4826I |
Missense |
100/106 |
- |
28 |
19-39070740-T-G |
c.14483T>G |
p.L4828R |
Missense |
100/106 |
- |
2 |
19-39070744-C-T |
c.14487C>T |
p.S4829= |
Synonymous |
100/106 |
- |
1 |
19-39070754-C-T |
c.14497C>T |
p.H4833Y |
Missense |
100/106 |
- |
10 |
19-39070757-A-T |
c.14500A>T |
p.N4834Y |
Missense |
100/106 |
- |
1 |
19-39070762-G-A |
c.14505G>A |
p.G4835= |
Synonymous |
100/106 |
- |
2 |
19-39070762-G-C |
c.14505G>C |
p.G4835= |
Synonymous |
100/106 |
- |
2 |
19-39070762-G-T |
c.14505G>T |
p.G4835= |
Synonymous |
100/106 |
- |
2 |
19-39070766-C-G |
c.14509C>G |
p.Q4837E |
Missense |
100/106 |
- |
2 |
19-39070767-CA-C |
c.14510del |
p.Q4837Rfs*3 |
Frameshift |
100/106 |
- |
3 |
19-39071010-C-G |
c.14512C>G |
p.L4838V |
Missense |
101/106 |
- |
7 |
19-39071017-T-G |
c.14519T>G |
p.M4840R |
Missense |
101/106 |
- |
1 |
19-39071019-A-G |
c.14521A>G |
p.T4841A |
Missense |
101/106 |
- |
1 |
19-39071022-G-A |
c.14524G>A |
p.V4842M |
Missense |
101/106 |
- |
5 |
19-39071035-C-T |
c.14537C>T |
p.A4846V |
Missense |
101/106 |
- |
3 |
19-39071037-G-C |
c.14539G>C |
p.V4847L |
Missense |
101/106 |
- |
1 |
19-39071037-G-T |
c.14539G>T |
p.V4847L |
Missense |
101/106 |
- |
1 |
19-39071043-G-A |
c.14545G>A |
p.V4849I |
Missense |
101/106 |
- |
17 |
19-39071056-C-T |
c.14558C>T |
p.T4853I |
Missense |
101/106 |
- |
3 |
19-39071067-T-C |
c.14569T>C |
p.F4857L |
Missense |
101/106 |
- |
1 |
19-39071068-T-C |
c.14570T>C |
p.F4857S |
Missense |
101/106 |
- |
1 |
19-39071079-C-T |
c.14581C>T |
p.R4861C |
Missense |
101/106 |
- |
7 |
19-39071080-G-A |
c.14582G>A |
p.R4861H |
Missense |
101/106 |
- |
23 |
19-39071088-T-C |
c.14590T>C |
p.Y4864H |
Missense |
101/106 |
- |
4 |
19-39071089-A-G |
c.14591A>G |
p.Y4864C |
Missense |
101/106 |
- |
2 |
19-39071094-A-C |
c.14596A>C |
p.K4866Q |
Missense |
101/106 |
- |
1 |
19-39071105-T-G |
c.14607T>G |
p.D4869E |
Missense |
101/106 |
- |
1 |
19-39071113-A-C |
c.14615A>C |
p.E4872A |
Missense |
101/106 |
- |
1 |
19-39071121-A-G |
c.14623A>G |
p.M4875V |
Missense |
101/106 |
- |
2 |
19-39071122-T-C |
c.14624T>C |
p.M4875T |
Missense |
101/106 |
- |
1 |
19-39071125-A-G |
c.14627A>G |
p.K4876R |
Missense |
101/106 |
- |
2 |
19-39071143-C-T |
c.14645C>T |
p.T4882M |
Missense |
101/106 |
- |
4 |
19-39073707-C-T |
c.14647-1876C>T |
- |
IntronicSNV |
- |
101/105 |
1 |
19-39075583-T-G |
c.14647T>G |
p.C4883G |
Missense |
102/106 |
- |
1 |
19-39075595-C-T |
c.14659C>T |
p.H4887Y |
Missense |
102/106 |
- |
1 |
19-39075613-C-T |
c.14677C>T |
p.R4893W |
Missense |
102/106 |
- |
5 |
19-39075614-G-A |
c.14678G>A |
p.R4893Q |
Missense |
102/106 |
- |
8 |
19-39075614-G-C |
c.14678G>C |
p.R4893P |
Missense |
102/106 |
- |
1 |
19-39075616-G-A |
c.14680G>A |
p.A4894T |
Missense |
102/106 |
- |
2 |
19-39075616-G-C |
c.14680G>C |
p.A4894P |
Missense |
102/106 |
- |
2 |
19-39075617-C-A |
c.14681C>A |
p.A4894D |
Missense |
102/106 |
- |
4 |
19-39075617-C-T |
c.14681C>T |
p.A4894V |
Missense |
102/106 |
- |
1 |
19-39075623-G-T |
c.14687G>T |
p.G4896V |
Missense |
102/106 |
- |
1 |
19-39075626-G-A |
c.14690G>A |
p.G4897D |
Missense |
102/106 |
- |
2 |
19-39075626-G-T |
c.14690G>T |
p.G4897V |
Missense |
102/106 |
- |
3 |
19-39075629-T-A |
c.14693T>A |
p.I4898N |
Missense |
102/106 |
- |
1 |
19-39075629-T-C |
c.14693T>C |
p.I4898T |
Missense |
102/106 |
- |
41 |
19-39075631-G-A |
c.14695G>A |
p.G4899R |
Missense |
102/106 |
- |
1 |
19-39075632-G-A |
c.14696G>A |
p.G4899E |
Missense |
102/106 |
- |
1 |
19-39075636-C-T |
c.14700C>T |
p.D4900= |
Synonymous |
102/106 |
- |
1 |
19-39075637-G-A |
c.14701G>A |
p.E4901K |
Missense |
102/106 |
- |
1 |
19-39075643-G-A |
c.14707G>A |
p.E4903K |
Missense |
102/106 |
- |
1 |
19-39075653-C-G |
c.14717C>G |
p.A4906G |
Missense |
102/106 |
- |
1 |
19-39075653-C-T |
c.14717C>T |
p.A4906V |
Missense |
102/106 |
- |
2 |
19-39075667-G-A |
c.14731G>A |
p.E4911K |
Missense |
102/106 |
- |
4 |
19-39075667-G-T |
c.14731G>T |
p.E4911* |
Nonsense |
102/106 |
- |
1 |
19-39075677-G-C |
c.14741G>C |
p.R4914T |
Missense |
102/106 |
- |
3 |
19-39075677-G-T |
c.14741G>T |
p.R4914M |
Missense |
102/106 |
- |
1 |
19-39075688-G-A |
c.14752G>A |
p.D4918N |
Missense |
102/106 |
- |
2 |
19-39075695-C-A |
c.14759C>A |
p.T4920N |
Missense |
102/106 |
- |
1 |
19-39075697-TT-AC |
c.14761_14762delinsAC |
p.F4921T |
Missense |
102/106 |
- |
1 |
19-39075698-T-C |
c.14762T>C |
p.F4921S |
Missense |
102/106 |
- |
1 |
19-39075699-C-G |
c.14763C>G |
p.F4921L |
Missense |
102/106 |
- |
4 |
19-39075695-CCTTCTT-C |
c.14767_14772del |
p.F4923_F4924del |
InFrameDeletion |
102/106 |
- |
1 |
19-39075695-CCTT-C |
c.14770_14772del |
p.F4924del |
InFrameDeletion |
102/106 |
- |
1 |
19-39075701-T-TCTTCTTTAGACAGGGTGTTGCTCTGTTGCC |
c.14771_14772insTAGACAGGGTGTTGCTCTGTTGCCCTTCTT |
p.F4924_V4925insRQGVALLPFF |
InFrameInsertion |
102/106 |
- |
1 |
19-39075709-G-A |
c.14773G>A |
p.V4925I |
Missense |
102/106 |
- |
1 |
19-39076581-T-G |
c.14807T>G |
p.L4936R |
Missense |
103/106 |
- |
2 |
19-39076587-T-C |
c.14813T>C |
p.I4938T |
Missense |
103/106 |
- |
1 |
19-39076589-G-T |
c.14815G>T |
p.D4939Y |
Missense |
103/106 |
- |
2 |
19-39076591-C-A |
c.14817C>A |
p.D4939E |
Missense |
103/106 |
- |
2 |
19-39076592-G-A |
c.14818G>A |
p.A4940T |
Missense |
103/106 |
- |
8 |
19-39076596-T-G |
c.14822T>G |
p.F4941C |
Missense |
103/106 |
- |
1 |
19-39076607-C-T |
c.14833C>T |
p.R4945* |
Nonsense |
103/106 |
- |
2 |
19-39076633-G-A |
c.14859G>A |
p.E4953= |
Synonymous |
103/106 |
- |
1 |
19-39076763-C-A |
c.14901C>A |
p.D4967E |
Missense |
104/106 |
- |
1 |
19-39076763-C-G |
c.14901C>G |
p.D4967E |
Missense |
104/106 |
- |
1 |
19-39076777-C-T |
c.14915C>T |
p.T4972I |
Missense |
104/106 |
- |
1 |
19-39076780-C-T |
c.14918C>T |
p.P4973L |
Missense |
104/106 |
- |
5 |
19-39076790-C-G |
c.14928C>G |
p.F4976L |
Missense |
104/106 |
- |
7 |
19-39076791-G-A |
c.14929G>A |
p.E4977K |
Missense |
104/106 |
- |
1 |
19-39076796-TCA-T |
c.14938_14939del |
p.T4980Afs*21 |
Frameshift |
104/106 |
- |
1 |
19-39076800-A-G |
c.14938A>G |
p.T4980A |
Missense |
104/106 |
- |
1 |
19-39076801-C-T |
c.14939C>T |
p.T4980M |
Missense |
104/106 |
- |
2 |
19-39076804-T-C |
c.14942T>C |
p.L4981P |
Missense |
104/106 |
- |
1 |
19-39077175-A-G |
c.14980A>G |
p.M4994V |
Missense |
105/106 |
- |
1 |
19-39077208-A-G |
c.15013A>G |
p.T5005A |
Missense |
105/106 |
- |
1 |
19-39077209-C-T |
c.15014C>T |
p.T5005M |
Missense |
105/106 |
- |
1 |
19-39077965-G-C |
c.15022G>C |
p.E5008Q |
Missense |
106/106 |
- |
1 |
19-39078002-G-C |
c.15059G>C |
p.W5020S |
Missense |
106/106 |
- |
1 |