15-80445363-C-T |
c.-34C>T |
- |
5-UTRSNV |
1/14 |
- |
2 |
15-80445397-A-G |
c.1A>G |
p.M1? |
Missense |
1/14 |
- |
8 |
15-80445398-T-A |
c.2T>A |
p.M1? |
Missense |
1/14 |
- |
3 |
15-80445398-T-G |
c.2T>G |
p.M1? |
Missense |
1/14 |
- |
1 |
15-80445399-G-A |
c.3G>A |
p.M1? |
Missense |
1/14 |
- |
3 |
15-80445399-G-C |
c.3G>C |
p.M1? |
Missense |
1/14 |
- |
1 |
15-80445401-C-T |
c.5C>T |
p.S2F |
Missense |
1/14 |
- |
1 |
15-80445402-C-A |
c.6C>A |
p.S2= |
Synonymous |
1/14 |
- |
1 |
15-80445408-C-T |
c.12C>T |
p.I4= |
Synonymous |
1/14 |
- |
1 |
15-80445409-C-T |
c.13C>T |
p.P5S |
Missense |
1/14 |
- |
1 |
15-80445414-GGCC-G |
c.20_22del |
p.A7del |
InFrameDeletion |
1/14 |
- |
1 |
15-80445418-G-A |
c.22G>A |
p.E8K |
Missense |
1/14 |
- |
1 |
15-80445418-G-T |
c.22G>T |
p.E8* |
Nonsense |
1/14 |
- |
1 |
15-80445421-G-A |
c.25G>A |
p.D9N |
Missense |
1/14 |
- |
1 |
15-80445424-T-G |
c.28T>G |
p.S10A |
Missense |
1/14 |
- |
4 |
15-80445425-C-G |
c.29C>G |
p.S10C |
Missense |
1/14 |
- |
2 |
15-80445430-T-A |
c.34T>A |
p.F12I |
Missense |
1/14 |
- |
1 |
15-80445431-T-C |
c.35T>C |
p.F12S |
Missense |
1/14 |
- |
1 |
15-80445432-C-A |
c.36C>A |
p.F12L |
Missense |
1/14 |
- |
1 |
15-80445434-C-T |
c.38C>T |
p.P13L |
Missense |
1/14 |
- |
1 |
15-80445436-A-G |
c.40A>G |
p.I14V |
Missense |
1/14 |
- |
1 |
15-80445443-A-C |
c.47A>C |
p.N16T |
Missense |
1/14 |
- |
1 |
15-80445443-A-T |
c.47A>T |
p.N16I |
Missense |
1/14 |
- |
8 |
15-80445444-C-T |
c.48C>T |
p.N16= |
Synonymous |
1/14 |
- |
1 |
15-80445448-C-T |
c.52C>T |
p.P18S |
Missense |
1/14 |
- |
1 |
15-80445449-C-T |
c.53C>T |
p.P18L |
Missense |
1/14 |
- |
1 |
15-80445451-T-A |
c.55T>A |
p.Y19N |
Missense |
1/14 |
- |
1 |
15-80445454-GGC-TGG |
c.58_60delinsTGG |
p.G20W |
Missense |
1/14 |
- |
1 |
15-80445457-CGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGG-C |
c.61_81+38del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
1/14 |
1/13 |
1 |
15-80445463-T-C |
c.67T>C |
p.S23P |
Missense |
1/14 |
- |
1 |
15-80445464-C-G |
c.68C>G |
p.S23W |
Missense |
1/14 |
- |
1 |
15-80445465-G-T |
c.69G>T |
p.S23= |
Synonymous |
1/14 |
- |
1 |
15-80445467-C-A |
c.71C>A |
p.T24N |
Missense |
1/14 |
- |
1 |
15-80445467-C-T |
c.71C>T |
p.T24I |
Missense |
1/14 |
- |
1 |
15-80445469-AG-CC |
c.73_74delinsCC |
p.R25P |
Missense |
1/14 |
- |
1 |
15-80445479-T-A |
c.81+2T>A |
- |
IntronicSNV |
- |
1/13 |
3 |
15-80445485-G-A |
c.81+8G>A |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80445488-G-C |
c.81+11G>C |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80445512-A-AC |
c.81+35_81+36insC |
- |
IntronicInsertion |
- |
1/13 |
4 |
15-80445513-G-GT |
c.81+36_81+37insT |
- |
IntronicInsertion |
- |
1/13 |
1 |
15-80445512-A-AG |
c.81+38dup |
- |
IntronicInsertion |
- |
1/13 |
2 |
15-80445512-A-AGGGGAG |
c.81+38_81+39insGAGGGG |
- |
IntronicInsertion |
- |
1/13 |
1 |
15-80445512-A-AGGGGAGTGGAGTGGAGTGGAG |
c.81+38_81+39insGAGTGGAGTGGAGTGGAGGGG |
- |
IntronicInsertion |
- |
1/13 |
1 |
15-80445514-GGAGTGGAGTGGAGTGGAGT-G |
c.81+39_81+57del |
- |
IntronicDeletion |
- |
1/13 |
2 |
15-80445528-T-G |
c.81+51T>G |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80445533-T-G |
c.81+56T>G |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80445537-G-A |
c.81+60G>A |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80445547-G-A |
c.81+70G>A |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80445513-GGGAGT-G |
c.81+75_81+79del |
- |
IntronicDeletion |
- |
1/13 |
1 |
15-80445552-G-A |
c.81+75G>A |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80445557-A-G |
c.81+80A>G |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80445562-G-A |
c.81+85G>A |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80445564-G-C |
c.81+87G>C |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80448476-T-C |
c.82-1926T>C |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80448542-T-C |
c.82-1860T>C |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80448562-G-C |
c.82-1840G>C |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80450328-T-C |
c.82-74T>C |
- |
IntronicSNV |
- |
1/13 |
7 |
15-80450389-G-A |
c.82-13G>A |
- |
IntronicSNV |
- |
1/13 |
11 |
15-80450401-G-A |
c.82-1G>A |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80450401-G-C |
c.82-1G>C |
- |
IntronicSNV |
- |
1/13 |
1 |
15-80450405-A-T |
c.85A>T |
p.R29* |
Nonsense |
2/14 |
- |
1 |
15-80450408-C-T |
c.88C>T |
p.P30S |
Missense |
2/14 |
- |
1 |
15-80450409-C-T |
c.89C>T |
p.P30L |
Missense |
2/14 |
- |
2 |
15-80450412-G-A |
c.92G>A |
p.R31K |
Missense |
2/14 |
- |
1 |
15-80450415-T-G |
c.95T>G |
p.I32R |
Missense |
2/14 |
- |
3 |
15-80450416-A-G |
c.96A>G |
p.I32M |
Missense |
2/14 |
- |
1 |
15-80450417-G-A |
c.97G>A |
p.G33S |
Missense |
2/14 |
- |
3 |
15-80450418-G-A |
c.98G>A |
p.G33D |
Missense |
2/14 |
- |
1 |
15-80450418-G-T |
c.98G>T |
p.G33V |
Missense |
2/14 |
- |
1 |
15-80450419-T-A |
c.99T>A |
p.G33= |
Synonymous |
2/14 |
- |
1 |
15-80450419-T-C |
c.99T>C |
p.G33= |
Synonymous |
2/14 |
- |
2 |
15-80450419-T-G |
c.99T>G |
p.G33= |
Synonymous |
2/14 |
- |
1 |
15-80450423-G-A |
c.103G>A |
p.A35T |
Missense |
2/14 |
- |
6 |
15-80450424-C-T |
c.104C>T |
p.A35V |
Missense |
2/14 |
- |
1 |
15-80450427-T-C |
c.107T>C |
p.I36T |
Missense |
2/14 |
- |
1 |
15-80450428-T-G |
c.108T>G |
p.I36M |
Missense |
2/14 |
- |
1 |
15-80450429-G-A |
c.109G>A |
p.G37S |
Missense |
2/14 |
- |
2 |
15-80450430-G-A |
c.110G>A |
p.G37D |
Missense |
2/14 |
- |
2 |
15-80450430-GC-AG |
c.110_111delinsAG |
p.G37E |
Missense |
2/14 |
- |
1 |
15-80450431-C-A |
c.111C>A |
p.G37= |
Synonymous |
2/14 |
- |
1 |
15-80450431-C-G |
c.111C>G |
p.G37= |
Synonymous |
2/14 |
- |
1 |
15-80450431-C-T |
c.111C>T |
p.G37= |
Synonymous |
2/14 |
- |
2 |
15-80450432-G-A |
c.112G>A |
p.D38N |
Missense |
2/14 |
- |
4 |
15-80450433-A-C |
c.113A>C |
p.D38A |
Missense |
2/14 |
- |
1 |
15-80450433-A-AC |
c.115dup |
p.Q39Pfs*61 |
Frameshift |
2/14 |
- |
1 |
15-80450435-C-T |
c.115C>T |
p.Q39* |
Nonsense |
2/14 |
- |
1 |
15-80450440-C-G |
c.120C>G |
p.I40M |
Missense |
2/14 |
- |
1 |
15-80450441-C-T |
c.121C>T |
p.L41= |
Synonymous |
2/14 |
- |
4 |
15-80450443-G-A |
c.123G>A |
p.L41= |
Synonymous |
2/14 |
- |
1 |
15-80450443-G-C |
c.123G>C |
p.L41= |
Synonymous |
2/14 |
- |
1 |
15-80450443-G-T |
c.123G>T |
p.L41= |
Synonymous |
2/14 |
- |
1 |
15-80450445-A-G |
c.125A>G |
p.D42G |
Missense |
2/14 |
- |
1 |
15-80450452-C-T |
c.132C>T |
p.S44= |
Synonymous |
2/14 |
- |
1 |
15-80450458-C-G |
c.138C>G |
p.I46M |
Missense |
2/14 |
- |
2 |
15-80450459-A-G |
c.139A>G |
p.K47E |
Missense |
2/14 |
- |
3 |
15-80450462-C-T |
c.142C>T |
p.H48Y |
Missense |
2/14 |
- |
2 |
15-80450463-A-G |
c.143A>G |
p.H48R |
Missense |
2/14 |
- |
2 |
15-80450465-C-T |
c.145C>T |
p.L49F |
Missense |
2/14 |
- |
1 |
15-80450470-T-C |
c.150T>C |
p.F50= |
Synonymous |
2/14 |
- |
1 |
15-80450474-G-T |
c.154G>T |
p.G52C |
Missense |
2/14 |
- |
1 |
15-80450475-G-A |
c.155G>A |
p.G52D |
Missense |
2/14 |
- |
1 |
15-80450483-C-A |
c.163C>A |
p.L55I |
Missense |
2/14 |
- |
1 |
15-80450485-C-G |
c.165C>G |
p.L55= |
Synonymous |
2/14 |
- |
1 |
15-80450485-C-T |
c.165C>T |
p.L55= |
Synonymous |
2/14 |
- |
1 |
15-80450487-C-T |
c.167C>T |
p.S56F |
Missense |
2/14 |
- |
1 |
15-80450488-C-A |
c.168C>A |
p.S56= |
Synonymous |
2/14 |
- |
1 |
15-80450488-C-G |
c.168C>G |
p.S56= |
Synonymous |
2/14 |
- |
1 |
15-80450488-C-T |
c.168C>T |
p.S56= |
Synonymous |
2/14 |
- |
1 |
15-80450491-A-G |
c.171A>G |
p.K57= |
Synonymous |
2/14 |
- |
1 |
15-80450492-C-T |
c.172C>T |
p.H58Y |
Missense |
2/14 |
- |
1 |
15-80450497-G-C |
c.177G>C |
p.Q59H |
Missense |
2/14 |
- |
2 |
15-80450497-G-T |
c.177G>T |
p.Q59H |
Missense |
2/14 |
- |
1 |
15-80450498-G-A |
c.178G>A |
p.D60N |
Missense |
2/14 |
- |
1 |
15-80450501-G-T |
c.181G>T |
p.V61F |
Missense |
2/14 |
- |
11 |
15-80450503-C-A |
c.183C>A |
p.V61= |
Synonymous |
2/14 |
- |
2 |
15-80450503-C-G |
c.183C>G |
p.V61= |
Synonymous |
2/14 |
- |
2 |
15-80450503-C-T |
c.183C>T |
p.V61= |
Synonymous |
2/14 |
- |
3 |
15-80450505-T-G |
c.185T>G |
p.F62C |
Missense |
2/14 |
- |
3 |
15-80450508-A-G |
c.188A>G |
p.N63S |
Missense |
2/14 |
- |
1 |
15-80450511-CA-C |
c.191del |
p.Q64Rfs*28 |
Frameshift |
2/14 |
- |
2 |
15-80450512-G-C |
c.192G>C |
p.Q64H |
Missense |
2/14 |
- |
8 |
15-80450512-G-T |
c.192G>T |
p.Q64H |
Missense |
2/14 |
- |
23 |
15-80450513-G-T |
c.192+1G>T |
- |
IntronicSNV |
- |
2/13 |
3 |
15-80450617-C-T |
c.192+105C>T |
- |
IntronicSNV |
- |
2/13 |
1 |
15-80450724-G-A |
c.192+212G>A |
- |
IntronicSNV |
- |
2/13 |
2 |
15-80452013-C-T |
c.193-85C>T |
- |
IntronicSNV |
- |
2/13 |
1 |
15-80452075-T-C |
c.193-23T>C |
- |
IntronicSNV |
- |
2/13 |
9 |
15-80452098-C-T |
c.193C>T |
p.P65S |
Missense |
3/14 |
- |
1 |
15-80452102-C-T |
c.197C>T |
p.T66I |
Missense |
3/14 |
- |
1 |
15-80452106-C-A |
c.201C>A |
p.L67= |
Synonymous |
3/14 |
- |
1 |
15-80452106-C-G |
c.201C>G |
p.L67= |
Synonymous |
3/14 |
- |
1 |
15-80452106-C-T |
c.201C>T |
p.L67= |
Synonymous |
3/14 |
- |
1 |
15-80452107-A-G |
c.202A>G |
p.N68D |
Missense |
3/14 |
- |
1 |
15-80452108-A-G |
c.203A>G |
p.N68S |
Missense |
3/14 |
- |
1 |
15-80452118-G-C |
c.213G>C |
p.M71I |
Missense |
3/14 |
- |
2 |
15-80452119-GGC-TGG |
c.214_216delinsTGG |
p.G72W |
Missense |
3/14 |
- |
1 |
15-80452116-ATGGGCCTGGGTCAGGCTGCC-A |
c.215_234del |
p.G72Efs*21 |
Frameshift |
3/14 |
- |
1 |
15-80452126-G-A |
c.221G>A |
p.G74D |
Missense |
3/14 |
- |
1 |
15-80452126-G-C |
c.221G>C |
p.G74A |
Missense |
3/14 |
- |
1 |
15-80452127-T-A |
c.222T>A |
p.G74= |
Synonymous |
3/14 |
- |
1 |
15-80452127-T-C |
c.222T>C |
p.G74= |
Synonymous |
3/14 |
- |
2 |
15-80452127-T-G |
c.222T>G |
p.G74= |
Synonymous |
3/14 |
- |
1 |
15-80452129-A-G |
c.224A>G |
p.Q75R |
Missense |
3/14 |
- |
1 |
15-80452131-G-A |
c.226G>A |
p.A76T |
Missense |
3/14 |
- |
4 |
15-80452135-C-T |
c.230C>T |
p.A77V |
Missense |
3/14 |
- |
3 |
15-80452136-C-A |
c.231C>A |
p.A77= |
Synonymous |
3/14 |
- |
1 |
15-80452136-C-G |
c.231C>G |
p.A77= |
Synonymous |
3/14 |
- |
2 |
15-80452136-C-T |
c.231C>T |
p.A77= |
Synonymous |
3/14 |
- |
1 |
15-80452138-G-A |
c.233G>A |
p.W78* |
Nonsense |
3/14 |
- |
6 |
15-80452138-GG-AT |
c.233_234delinsAT |
p.W78Y |
Missense |
3/14 |
- |
1 |
15-80452138-G-T |
c.233G>T |
p.W78L |
Missense |
3/14 |
- |
1 |
15-80452139-G-A |
c.234G>A |
p.W78* |
Nonsense |
3/14 |
- |
3 |
15-80452139-G-T |
c.234G>T |
p.W78C |
Missense |
3/14 |
- |
2 |
15-80452143-G-A |
c.238G>A |
p.E80K |
Missense |
3/14 |
- |
1 |
15-80452145-G-C |
c.240G>C |
p.E80D |
Missense |
3/14 |
- |
1 |
15-80452147-C-A |
c.242C>A |
p.A81E |
Missense |
3/14 |
- |
1 |
15-80452147-C-T |
c.242C>T |
p.A81V |
Missense |
3/14 |
- |
2 |
15-80452149-AGA-TGG |
c.244_246delinsTGG |
p.R82W |
Missense |
3/14 |
- |
1 |
15-80452152-G-A |
c.247G>A |
p.V83M |
Missense |
3/14 |
- |
2 |
15-80452154-G-A |
c.249G>A |
p.V83= |
Synonymous |
3/14 |
- |
1 |
15-80452154-G-C |
c.249G>C |
p.V83= |
Synonymous |
3/14 |
- |
1 |
15-80452154-G-T |
c.249G>T |
p.V83= |
Synonymous |
3/14 |
- |
1 |
15-80452157-C-G |
c.252C>G |
p.F84L |
Missense |
3/14 |
- |
1 |
15-80452161-C-A |
c.256C>A |
p.Q86K |
Missense |
3/14 |
- |
1 |
15-80452161-C-G |
c.256C>G |
p.Q86E |
Missense |
3/14 |
- |
1 |
15-80452162-A-C |
c.257A>C |
p.Q86P |
Missense |
3/14 |
- |
2 |
15-80452162-A-G |
c.257A>G |
p.Q86R |
Missense |
3/14 |
- |
1 |
15-80452163-G-GAT |
c.259_260insTA |
p.N87Ifs*6 |
Frameshift |
3/14 |
- |
1 |
15-80452165-A-G |
c.260A>G |
p.N87S |
Missense |
3/14 |
- |
1 |
15-80452167-T-C |
c.262T>C |
p.L88= |
Synonymous |
3/14 |
- |
2 |
15-80452170-C-T |
c.265C>T |
p.L89= |
Synonymous |
3/14 |
- |
1 |
15-80452172-G-A |
c.267G>A |
p.L89= |
Synonymous |
3/14 |
- |
1 |
15-80452172-G-C |
c.267G>C |
p.L89= |
Synonymous |
3/14 |
- |
9 |
15-80452172-G-T |
c.267G>T |
p.L89= |
Synonymous |
3/14 |
- |
8 |
15-80452174-C-T |
c.269C>T |
p.S90F |
Missense |
3/14 |
- |
3 |
15-80452176-G-A |
c.271G>A |
p.V91M |
Missense |
3/14 |
- |
1 |
15-80452176-G-C |
c.271G>C |
p.V91L |
Missense |
3/14 |
- |
1 |
15-80452181-C-CCTGGCTTGGCTCACAGAGAG |
c.277_278insTGGCTTGGCTCACAGAGAGC |
p.Q93Lfs*36 |
Frameshift |
3/14 |
- |
1 |
15-80452182-C-T |
c.277C>T |
p.Q93* |
Nonsense |
3/14 |
- |
1 |
15-80452183-A-T |
c.278A>T |
p.Q93L |
Missense |
3/14 |
- |
1 |
15-80452184-A-G |
c.279A>G |
p.Q93= |
Synonymous |
3/14 |
- |
1 |
15-80452187-C-A |
c.282C>A |
p.A94= |
Synonymous |
3/14 |
- |
1 |
15-80452187-C-G |
c.282C>G |
p.A94= |
Synonymous |
3/14 |
- |
1 |
15-80452187-C-T |
c.282C>T |
p.A94= |
Synonymous |
3/14 |
- |
1 |
15-80452188-AGG-TGT |
c.283_285delinsTGT |
p.R95C |
Missense |
3/14 |
- |
2 |
15-80452188-A-T |
c.283A>T |
p.R95W |
Missense |
3/14 |
- |
2 |
15-80452191-C-T |
c.286C>T |
p.L96F |
Missense |
3/14 |
- |
1 |
15-80452192-T-C |
c.287T>C |
p.L96P |
Missense |
3/14 |
- |
1 |
15-80452194-A-G |
c.289A>G |
p.R97G |
Missense |
3/14 |
- |
1 |
15-80452195-G-A |
c.290G>A |
p.R97K |
Missense |
3/14 |
- |
1 |
15-80452195-G-T |
c.290G>T |
p.R97I |
Missense |
3/14 |
- |
1 |
15-80452196-A-AT |
c.291_292insT |
p.D98* |
Nonsense |
3/14 |
- |
1 |
15-80452198-A-T |
c.293A>T |
p.D98V |
Missense |
3/14 |
- |
1 |
15-80452201-A-G |
c.296A>G |
p.D99G |
Missense |
3/14 |
- |
4 |
15-80452206-G-A |
c.301G>A |
p.E101K |
Missense |
3/14 |
- |
3 |
15-80452206-G-T |
c.301G>T |
p.E101* |
Nonsense |
3/14 |
- |
1 |
15-80452207-A-G |
c.302A>G |
p.E101G |
Missense |
3/14 |
- |
1 |
15-80452205-CGAACTTCGGAAGTGGTGA-C |
c.304_314+7del |
- |
SpliceDonorDeletion |
3/14 |
3/13 |
1 |
15-80452210-T-A |
c.305T>A |
p.L102H |
Missense |
3/14 |
- |
1 |
15-80452212-C-T |
c.307C>T |
p.R103W |
Missense |
3/14 |
- |
3 |
15-80452213-G-A |
c.308G>A |
p.R103Q |
Missense |
3/14 |
- |
1 |
15-80452217-G-C |
c.312G>C |
p.K104N |
Missense |
3/14 |
- |
1 |
15-80452217-G-T |
c.312G>T |
p.K104N |
Missense |
3/14 |
- |
1 |
15-80452220-G-A |
c.314+1G>A |
- |
IntronicSNV |
- |
3/13 |
1 |
15-80452268-G-A |
c.314+49G>A |
- |
IntronicSNV |
- |
3/13 |
8 |
15-80452268-G-T |
c.314+49G>T |
- |
IntronicSNV |
- |
3/13 |
4 |
15-80452443-C-G |
c.314+224C>G |
- |
IntronicSNV |
- |
3/13 |
1 |
15-80452754-C-T |
c.317C>T |
p.A106V |
Missense |
4/14 |
- |
1 |
15-80452758-C-T |
c.321C>T |
p.F107= |
Synonymous |
4/14 |
- |
1 |
15-80452759-A-G |
c.322A>G |
p.I108V |
Missense |
4/14 |
- |
1 |
15-80452764-C-A |
c.327C>A |
p.S109= |
Synonymous |
4/14 |
- |
1 |
15-80452764-C-T |
c.327C>T |
p.S109= |
Synonymous |
4/14 |
- |
2 |
15-80452767-G-C |
c.330G>C |
p.Q110H |
Missense |
4/14 |
- |
1 |
15-80452767-G-T |
c.330G>T |
p.Q110H |
Missense |
4/14 |
- |
1 |
15-80452769-C-T |
c.332C>T |
p.A111V |
Missense |
4/14 |
- |
1 |
15-80452779-G-A |
c.342G>A |
p.T114= |
Synonymous |
4/14 |
- |
1 |
15-80452784-A-G |
c.347A>G |
p.H116R |
Missense |
4/14 |
- |
4 |
15-80452785-C-CAAAAAAAA |
c.348_349insAAAAAAAA |
p.L117Kfs*8 |
Frameshift |
4/14 |
- |
1 |
15-80452789-C-T |
c.352C>T |
p.P118S |
Missense |
4/14 |
- |
1 |
15-80452790-C-G |
c.353C>G |
p.P118R |
Missense |
4/14 |
- |
1 |
15-80452799-T-C |
c.362T>C |
p.I121T |
Missense |
4/14 |
- |
2 |
15-80452800-A-G |
c.363A>G |
p.I121M |
Missense |
4/14 |
- |
1 |
15-80452806-G-T |
c.364+5G>T |
- |
IntronicSNV |
- |
4/13 |
1 |
15-80452844-G-A |
c.364+43G>A |
- |
IntronicSNV |
- |
4/13 |
1 |
15-80452844-G-T |
c.364+43G>T |
- |
IntronicSNV |
- |
4/13 |
1 |
15-80452850-C-T |
c.364+49C>T |
- |
IntronicSNV |
- |
4/13 |
1 |
15-80452886-T-G |
c.364+85T>G |
- |
IntronicSNV |
- |
4/13 |
7 |
15-80452943-G-T |
c.364+142G>T |
- |
IntronicSNV |
- |
4/13 |
2 |
15-80453562-C-A |
c.364+761C>A |
- |
IntronicSNV |
- |
4/13 |
1 |
15-80454588-GA-AC |
c.365_366delinsAC |
p.G122D |
Missense |
5/14 |
- |
2 |
15-80454597-C-G |
c.374C>G |
p.T125R |
Missense |
5/14 |
- |
1 |
15-80454597-C-T |
c.374C>T |
p.T125I |
Missense |
5/14 |
- |
2 |
15-80454598-A-C |
c.375A>C |
p.T125= |
Synonymous |
5/14 |
- |
1 |
15-80454598-A-G |
c.375A>G |
p.T125= |
Synonymous |
5/14 |
- |
1 |
15-80454598-A-T |
c.375A>T |
p.T125= |
Synonymous |
5/14 |
- |
1 |
15-80454602-T-A |
c.379T>A |
p.F127I |
Missense |
5/14 |
- |
1 |
15-80454606-A-G |
c.383A>G |
p.Y128C |
Missense |
5/14 |
- |
2 |
15-80454606-A-T |
c.383A>T |
p.Y128F |
Missense |
5/14 |
- |
1 |
15-80454612-C-A |
c.389C>A |
p.S130Y |
Missense |
5/14 |
- |
1 |
15-80454614-C-A |
c.391C>A |
p.R131= |
Synonymous |
5/14 |
- |
1 |
15-80454614-C-T |
c.391C>T |
p.R131W |
Missense |
5/14 |
- |
7 |
15-80454617-C-G |
c.394C>G |
p.Q132E |
Missense |
5/14 |
- |
1 |
15-80454621-A-G |
c.398A>G |
p.H133R |
Missense |
5/14 |
- |
1 |
15-80454621-A-T |
c.398A>T |
p.H133L |
Missense |
5/14 |
- |
3 |
15-80454624-C-A |
c.401C>A |
p.A134D |
Missense |
5/14 |
- |
7 |
15-80454625-T-A |
c.402T>A |
p.A134= |
Synonymous |
5/14 |
- |
1 |
15-80454625-T-C |
c.402T>C |
p.A134= |
Synonymous |
5/14 |
- |
1 |
15-80454625-T-G |
c.402T>G |
p.A134= |
Synonymous |
5/14 |
- |
1 |
15-80454627-CC-TG |
c.404_405delinsTG |
p.T135M |
Missense |
5/14 |
- |
2 |
15-80454630-A-G |
c.407A>G |
p.N136S |
Missense |
5/14 |
- |
2 |
15-80454632-CG-C |
c.409del |
p.V137Sfs*12 |
Frameshift |
5/14 |
- |
1 |
15-80454632-G-A |
c.409G>A |
p.V137I |
Missense |
5/14 |
- |
3 |
15-80454634-C-A |
c.411C>A |
p.V137= |
Synonymous |
5/14 |
- |
4 |
15-80454634-C-G |
c.411C>G |
p.V137= |
Synonymous |
5/14 |
- |
5 |
15-80454634-C-T |
c.411C>T |
p.V137= |
Synonymous |
5/14 |
- |
5 |
15-80454635-G-A |
c.412G>A |
p.G138R |
Missense |
5/14 |
- |
2 |
15-80454635-G-C |
c.412G>C |
p.G138R |
Missense |
5/14 |
- |
2 |
15-80454638-A-G |
c.415A>G |
p.I139V |
Missense |
5/14 |
- |
1 |
15-80454639-T-C |
c.416T>C |
p.I139T |
Missense |
5/14 |
- |
1 |
15-80454641-A-G |
c.418A>G |
p.M140V |
Missense |
5/14 |
- |
1 |
15-80454642-T-G |
c.419T>G |
p.M140R |
Missense |
5/14 |
- |
1 |
15-80454646-C-CA |
c.424dup |
p.R142Kfs*42 |
Frameshift |
5/14 |
- |
1 |
15-80454647-A-G |
c.424A>G |
p.R142G |
Missense |
5/14 |
- |
2 |
15-80454649-G-T |
c.426G>T |
p.R142S |
Missense |
5/14 |
- |
1 |
15-80454652-C-CT |
c.429_430insT |
p.K144* |
Nonsense |
5/14 |
- |
1 |
15-80454652-C-CA |
c.431dup |
p.E145Gfs*39 |
Frameshift |
5/14 |
- |
1 |
15-80454654-A-G |
c.431A>G |
p.K144R |
Missense |
5/14 |
- |
1 |
15-80454656-G-A |
c.433G>A |
p.E145K |
Missense |
5/14 |
- |
1 |
15-80454658-G-C |
c.435G>C |
p.E145D |
Missense |
5/14 |
- |
1 |
15-80454658-G-T |
c.435G>T |
p.E145D |
Missense |
5/14 |
- |
1 |
15-80454660-A-G |
c.437A>G |
p.N146S |
Missense |
5/14 |
- |
3 |
15-80454662-G-A |
c.439G>A |
p.A147T |
Missense |
5/14 |
- |
1 |
15-80454663-C-A |
c.440C>A |
p.A147E |
Missense |
5/14 |
- |
1 |
15-80454663-C-T |
c.440C>T |
p.A147V |
Missense |
5/14 |
- |
8 |
15-80454666-T-G |
c.443T>G |
p.L148W |
Missense |
5/14 |
- |
1 |
15-80454667-G-C |
c.444G>C |
p.L148F |
Missense |
5/14 |
- |
2 |
15-80454671-C-A |
c.448C>A |
p.P150T |
Missense |
5/14 |
- |
1 |
15-80454671-C-T |
c.448C>T |
p.P150S |
Missense |
5/14 |
- |
2 |
15-80454675-A-G |
c.452A>G |
p.N151S |
Missense |
5/14 |
- |
1 |
15-80454677-T-G |
c.454T>G |
p.W152G |
Missense |
5/14 |
- |
1 |
15-80454678-G-A |
c.455G>A |
p.W152* |
Nonsense |
5/14 |
- |
7 |
15-80454679-G-A |
c.455+1G>A |
- |
IntronicSNV |
- |
5/13 |
1 |
15-80454683-G-A |
c.455+5G>A |
- |
IntronicSNV |
- |
5/13 |
1 |
15-80454707-G-A |
c.455+29G>A |
- |
IntronicSNV |
- |
5/13 |
7 |
15-80454745-T-C |
c.455+67T>C |
- |
IntronicSNV |
- |
5/13 |
8 |
15-80454806-C-T |
c.455+128C>T |
- |
IntronicSNV |
- |
5/13 |
1 |
15-80459164-G-A |
c.456-1230G>A |
- |
IntronicSNV |
- |
5/13 |
1 |
15-80459257-C-A |
c.456-1137C>A |
- |
IntronicSNV |
- |
5/13 |
1 |
15-80459257-C-G |
c.456-1137C>G |
- |
IntronicSNV |
- |
5/13 |
1 |
15-80459272-C-T |
c.456-1122C>T |
- |
IntronicSNV |
- |
5/13 |
1 |
15-80460374-C-T |
c.456-20C>T |
- |
IntronicSNV |
- |
5/13 |
1 |
15-80460394-G-A |
c.456G>A |
p.W152* |
Nonsense |
6/14 |
- |
3 |
15-80460394-G-T |
c.456G>T |
p.W152C |
Missense |
6/14 |
- |
1 |
15-80460395-C-T |
c.457C>T |
p.L153= |
Synonymous |
6/14 |
- |
1 |
15-80460396-T-C |
c.458T>C |
p.L153P |
Missense |
6/14 |
- |
1 |
15-80460397-TG-T |
c.459del |
p.H154Tfs*27 |
Frameshift |
6/14 |
- |
1 |
15-80460398-GC-G |
c.460del |
p.H154Tfs*27 |
Frameshift |
6/14 |
- |
3 |
15-80460399-A-G |
c.461A>G |
p.H154R |
Missense |
6/14 |
- |
1 |
15-80460400-C-A |
c.462C>A |
p.H154Q |
Missense |
6/14 |
- |
2 |
15-80460400-C-G |
c.462C>G |
p.H154Q |
Missense |
6/14 |
- |
1 |
15-80460400-C-T |
c.462C>T |
p.H154= |
Synonymous |
6/14 |
- |
1 |
15-80460404-C-T |
c.466C>T |
p.P156S |
Missense |
6/14 |
- |
2 |
15-80460405-C-A |
c.467C>A |
p.P156Q |
Missense |
6/14 |
- |
1 |
15-80460407-G-A |
c.469G>A |
p.V157M |
Missense |
6/14 |
- |
1 |
15-80460408-T-C |
c.470T>C |
p.V157A |
Missense |
6/14 |
- |
3 |
15-80460410-G-A |
c.472G>A |
p.G158S |
Missense |
6/14 |
- |
3 |
15-80460411-G-A |
c.473G>A |
p.G158D |
Missense |
6/14 |
- |
3 |
15-80460412-C-T |
c.474C>T |
p.G158= |
Synonymous |
6/14 |
- |
1 |
15-80460421-C-T |
c.483C>T |
p.G161= |
Synonymous |
6/14 |
- |
1 |
15-80460422-C-T |
c.484C>T |
p.R162C |
Missense |
6/14 |
- |
3 |
15-80460423-G-A |
c.485G>A |
p.R162H |
Missense |
6/14 |
- |
3 |
15-80460423-G-T |
c.485G>T |
p.R162L |
Missense |
6/14 |
- |
1 |
15-80460426-C-T |
c.488C>T |
p.A163V |
Missense |
6/14 |
- |
1 |
15-80460430-C-G |
c.492C>G |
p.S164= |
Synonymous |
6/14 |
- |
1 |
15-80460431-T-C |
c.493T>C |
p.S165P |
Missense |
6/14 |
- |
1 |
15-80460432-C-A |
c.494C>A |
p.S165Y |
Missense |
6/14 |
- |
1 |
15-80460432-C-T |
c.494C>T |
p.S165F |
Missense |
6/14 |
- |
2 |
15-80460435-GT-G |
c.497del |
p.V166Afs*15 |
Frameshift |
6/14 |
- |
1 |
15-80460435-T-G |
c.497T>G |
p.V166G |
Missense |
6/14 |
- |
7 |
15-80460436-C-T |
c.498C>T |
p.V166= |
Synonymous |
6/14 |
- |
2 |
15-80460437-G-A |
c.499G>A |
p.V167M |
Missense |
6/14 |
- |
1 |
15-80460440-G-A |
c.502G>A |
p.V168M |
Missense |
6/14 |
- |
2 |
15-80460439-GGT-G |
c.504_505del |
p.S169Wfs*14 |
Frameshift |
6/14 |
- |
2 |
15-80460443-TC-CT |
c.505_506delinsCT |
p.S169L |
Missense |
6/14 |
- |
1 |
15-80460444-C-T |
c.506C>T |
p.S169F |
Missense |
6/14 |
- |
1 |
15-80460446-G-T |
c.508G>T |
p.G170C |
Missense |
6/14 |
- |
1 |
15-80460447-G-A |
c.509G>A |
p.G170D |
Missense |
6/14 |
- |
1 |
15-80460447-G-T |
c.509G>T |
p.G170V |
Missense |
6/14 |
- |
2 |
15-80460449-A-G |
c.511A>G |
p.T171A |
Missense |
6/14 |
- |
1 |
15-80460450-C-T |
c.512C>T |
p.T171I |
Missense |
6/14 |
- |
1 |
15-80460455-A-G |
c.517A>G |
p.I173V |
Missense |
6/14 |
- |
1 |
15-80460456-T-A |
c.518T>A |
p.I173N |
Missense |
6/14 |
- |
1 |
15-80460457-C-T |
c.519C>T |
p.I173= |
Synonymous |
6/14 |
- |
3 |
15-80460458-C-T |
c.520C>T |
p.R174* |
Nonsense |
6/14 |
- |
9 |
15-80460459-G-A |
c.521G>A |
p.R174Q |
Missense |
6/14 |
- |
3 |
15-80460459-G-T |
c.521G>T |
p.R174L |
Missense |
6/14 |
- |
1 |
15-80460461-A-G |
c.523A>G |
p.R175G |
Missense |
6/14 |
- |
1 |
15-80460461-AGG-CAT |
c.523_525delinsCAT |
p.R175H |
Missense |
6/14 |
- |
1 |
15-80460462-G-C |
c.524G>C |
p.R175T |
Missense |
6/14 |
- |
1 |
15-80460461-A-C |
c.523A>C |
p.R175= |
Synonymous |
6/14 |
- |
1 |
15-80460463-G-A |
c.525G>A |
p.R175= |
Synonymous |
6/14 |
- |
2 |
15-80460467-A-G |
c.529A>G |
p.M177V |
Missense |
6/14 |
- |
1 |
15-80460469-G-A |
c.531G>A |
p.M177I |
Missense |
6/14 |
- |
1 |
15-80460469-G-C |
c.531G>C |
p.M177I |
Missense |
6/14 |
- |
1 |
15-80460469-G-T |
c.531G>T |
p.M177I |
Missense |
6/14 |
- |
1 |
15-80460470-GGA-TGG |
c.532_534delinsTGG |
p.G178W |
Missense |
6/14 |
- |
1 |
15-80460471-G-T |
c.533G>T |
p.G178V |
Missense |
6/14 |
- |
1 |
15-80460474-A-G |
c.536A>G |
p.Q179R |
Missense |
6/14 |
- |
1 |
15-80460474-A-T |
c.536A>T |
p.Q179L |
Missense |
6/14 |
- |
3 |
15-80460476-80460477---TGAAACCTGATGACTG |
c.542_553+4dup |
- |
frameshift_variant |
6/14 |
- |
1 |
15-80460476-A-C |
c.538A>C |
p.M180L |
Missense |
6/14 |
- |
1 |
15-80460476-A-T |
c.538A>T |
p.M180L |
Missense |
6/14 |
- |
1 |
15-80460477-T-C |
c.539T>C |
p.M180T |
Missense |
6/14 |
- |
1 |
15-80460479-AA-GC |
c.541_542delinsGC |
p.K181A |
Missense |
6/14 |
- |
1 |
15-80460479-A-C |
c.541A>C |
p.K181Q |
Missense |
6/14 |
- |
1 |
15-80460480-A-G |
c.542A>G |
p.K181R |
Missense |
6/14 |
- |
1 |
15-80460481-A-C |
c.543A>C |
p.K181N |
Missense |
6/14 |
- |
1 |
15-80460481-A-T |
c.543A>T |
p.K181N |
Missense |
6/14 |
- |
1 |
15-80460482-C-G |
c.544C>G |
p.P182A |
Missense |
6/14 |
- |
1 |
15-80460484-T-TG |
c.547dup |
p.D183Gfs*2 |
Frameshift |
6/14 |
- |
1 |
15-80460486-GATGACTGTGAGTGACCGCAGCGTCCA-G |
c.548_553+20del |
- |
SpliceDonorDeletion |
6/14 |
6/13 |
3 |
15-80460487-T-A |
c.549T>A |
p.D183E |
Missense |
6/14 |
- |
1 |
15-80460487-T-G |
c.549T>G |
p.D183E |
Missense |
6/14 |
- |
2 |
15-80460488-G-A |
c.550G>A |
p.D184N |
Missense |
6/14 |
- |
1 |
15-80460496-G-A |
c.553+5G>A |
- |
IntronicSNV |
- |
6/13 |
1 |
15-80460524-A-G |
c.553+33A>G |
- |
IntronicSNV |
- |
6/13 |
11 |
15-80460524-A-T |
c.553+33A>T |
- |
IntronicSNV |
- |
6/13 |
7 |
15-80460591-C-G |
c.554-15C>G |
- |
IntronicSNV |
- |
6/13 |
1 |
15-80460591-C-T |
c.554-15C>T |
- |
IntronicSNV |
- |
6/13 |
1 |
15-80460605-G-C |
c.554-1G>C |
- |
IntronicSNV |
- |
6/13 |
6 |
15-80460605-G-T |
c.554-1G>T |
- |
IntronicSNV |
- |
6/13 |
6 |
15-80460606-C-T |
c.554C>T |
p.S185F |
Missense |
7/14 |
- |
1 |
15-80460615-C-T |
c.563C>T |
p.P188L |
Missense |
7/14 |
- |
2 |
15-80460617-G-A |
c.565G>A |
p.V189I |
Missense |
7/14 |
- |
9 |
15-80460623-G-C |
c.571G>C |
p.G191R |
Missense |
7/14 |
- |
1 |
15-80460626-G-A |
c.574G>A |
p.A192T |
Missense |
7/14 |
- |
2 |
15-80460629-T-C |
c.577T>C |
p.C193R |
Missense |
7/14 |
- |
3 |
15-80460630-G-A |
c.578G>A |
p.C193Y |
Missense |
7/14 |
- |
3 |
15-80460631-C-A |
c.579C>A |
p.C193* |
Nonsense |
7/14 |
- |
2 |
15-80460632-A-G |
c.580A>G |
p.K194E |
Missense |
7/14 |
- |
4 |
15-80460637-C-T |
c.585C>T |
p.L195= |
Synonymous |
7/14 |
- |
3 |
15-80460642-A-G |
c.590A>G |
p.D197G |
Missense |
7/14 |
- |
1 |
15-80460647-G-A |
c.595G>A |
p.E199K |
Missense |
7/14 |
- |
1 |
15-80460654-A-G |
c.602A>G |
p.E201G |
Missense |
7/14 |
- |
4 |
15-80460658-G-A |
c.606G>A |
p.M202I |
Missense |
7/14 |
- |
2 |
15-80460659-G-T |
c.606+1G>T |
- |
IntronicSNV |
- |
7/13 |
1 |
15-80460765-G-A |
c.606+107G>A |
- |
IntronicSNV |
- |
7/13 |
1 |
15-80464485-T-C |
c.607-6T>C |
- |
IntronicSNV |
- |
7/13 |
1 |
15-80464485-T-G |
c.607-6T>G |
- |
IntronicSNV |
- |
7/13 |
1 |
15-80464489-A-G |
c.607-2A>G |
- |
IntronicSNV |
- |
7/13 |
1 |
15-80464490-G-A |
c.607-1G>A |
- |
IntronicSNV |
- |
7/13 |
1 |
15-80464490-G-C |
c.607-1G>C |
- |
IntronicSNV |
- |
7/13 |
1 |
15-80464491-G-A |
c.607G>A |
p.A203T |
Missense |
8/14 |
- |
1 |
15-80464491-GCT-TAA |
c.607_609delinsTAA |
p.A203* |
Nonsense |
8/14 |
- |
1 |
15-80464491-G-T |
c.607G>T |
p.A203S |
Missense |
8/14 |
- |
2 |
15-80464492-C-A |
c.608C>A |
p.A203D |
Missense |
8/14 |
- |
1 |
15-80464493-T-C |
c.609T>C |
p.A203= |
Synonymous |
8/14 |
- |
1 |
15-80464493-T-G |
c.609T>G |
p.A203= |
Synonymous |
8/14 |
- |
1 |
15-80464498-T-C |
c.614T>C |
p.F205S |
Missense |
8/14 |
- |
3 |
15-80464492-C-CT |
c.615dup |
p.V206Cfs*18 |
SpliceAcceptorInsertion |
8/14 |
- |
4 |
15-80464492-CT-C |
c.615del |
p.F205Lfs*2 |
Frameshift |
8/14 |
- |
6 |
15-80464500-G-GA |
c.616_617insA |
p.V206Dfs*18 |
Frameshift |
8/14 |
- |
1 |
15-80464503-G-A |
c.619G>A |
p.G207S |
Missense |
8/14 |
- |
1 |
15-80464503-G-C |
c.619G>C |
p.G207R |
Missense |
8/14 |
- |
1 |
15-80464503-G-T |
c.619G>T |
p.G207C |
Missense |
8/14 |
- |
1 |
15-80464504-G-A |
c.620G>A |
p.G207D |
Missense |
8/14 |
- |
7 |
15-80464504-G-T |
c.620G>T |
p.G207V |
Missense |
8/14 |
- |
1 |
15-80464506-C-T |
c.622C>T |
p.P208S |
Missense |
8/14 |
- |
3 |
15-80464507-C-G |
c.623C>G |
p.P208R |
Missense |
8/14 |
- |
1 |
15-80464507-C-T |
c.623C>T |
p.P208L |
Missense |
8/14 |
- |
1 |
15-80464510-G-A |
c.626G>A |
p.G209E |
Missense |
8/14 |
- |
1 |
15-80464513-A-T |
c.629A>T |
p.N210I |
Missense |
8/14 |
- |
1 |
15-80464516-G-A |
c.632G>A |
p.R211K |
Missense |
8/14 |
- |
1 |
15-80464516-G-C |
c.632G>C |
p.R211T |
Missense |
8/14 |
- |
3 |
15-80464515-A-C |
c.631A>C |
p.R211= |
Synonymous |
8/14 |
- |
1 |
15-80464517-A-G |
c.633A>G |
p.R211= |
Synonymous |
8/14 |
- |
1 |
15-80464521-G-A |
c.637G>A |
p.G213R |
Missense |
8/14 |
- |
1 |
15-80464522-G-A |
c.638G>A |
p.G213E |
Missense |
8/14 |
- |
1 |
15-80464522-G-C |
c.638G>C |
p.G213A |
Missense |
8/14 |
- |
2 |
15-80464523-AGAGC-CT |
c.639_643delinsCT |
p.E214_P215delinsS |
MultiAAMissense |
8/14 |
- |
1 |
15-80464526-G-T |
c.642G>T |
p.E214D |
Missense |
8/14 |
- |
1 |
15-80464529-G-A |
c.645G>A |
p.P215= |
Synonymous |
8/14 |
- |
1 |
15-80464529-G-C |
c.645G>C |
p.P215= |
Synonymous |
8/14 |
- |
1 |
15-80464529-G-T |
c.645G>T |
p.P215= |
Synonymous |
8/14 |
- |
1 |
15-80464530-A-C |
c.646A>C |
p.I216L |
Missense |
8/14 |
- |
1 |
15-80464532-C-A |
c.648C>A |
p.I216= |
Synonymous |
8/14 |
- |
1 |
15-80464532-C-G |
c.648C>G |
p.I216M |
Missense |
8/14 |
- |
3 |
15-80464532-C-T |
c.648C>T |
p.I216= |
Synonymous |
8/14 |
- |
3 |
15-80464537-T-C |
c.653T>C |
p.I218T |
Missense |
8/14 |
- |
1 |
15-80464540-C-T |
c.656C>T |
p.S219F |
Missense |
8/14 |
- |
2 |
15-80464539-TC-T |
c.657del |
p.K220Rfs*12 |
Frameshift |
8/14 |
- |
1 |
15-80464548-C-A |
c.664C>A |
p.H222N |
Missense |
8/14 |
- |
1 |
15-80464548-C-T |
c.664C>T |
p.H222Y |
Missense |
8/14 |
- |
1 |
15-80464549-A-T |
c.665A>T |
p.H222L |
Missense |
8/14 |
- |
1 |
15-80464550-T-C |
c.666T>C |
p.H222= |
Synonymous |
8/14 |
- |
1 |
15-80464551-G-T |
c.667G>T |
p.E223* |
Nonsense |
8/14 |
- |
1 |
15-80464552-A-G |
c.668A>G |
p.E223G |
Missense |
8/14 |
- |
1 |
15-80464558-T-G |
c.674T>G |
p.I225S |
Missense |
8/14 |
- |
1 |
15-80464560-T-C |
c.676T>C |
p.F226L |
Missense |
8/14 |
- |
1 |
15-80464562-T-C |
c.678T>C |
p.F226= |
Synonymous |
8/14 |
- |
1 |
15-80464564-G-A |
c.680G>A |
p.G227E |
Missense |
8/14 |
- |
1 |
15-80464564-G-C |
c.680G>C |
p.G227A |
Missense |
8/14 |
- |
1 |
15-80464564-G-T |
c.680G>T |
p.G227V |
Missense |
8/14 |
- |
1 |
15-80464566-A-G |
c.682A>G |
p.M228V |
Missense |
8/14 |
- |
1 |
15-80464568-G-A |
c.684G>A |
p.M228I |
Missense |
8/14 |
- |
1 |
15-80464570-T-G |
c.686T>G |
p.V229G |
Missense |
8/14 |
- |
1 |
15-80464572-C-G |
c.688C>G |
p.L230V |
Missense |
8/14 |
- |
1 |
15-80464576-T-A |
c.692T>A |
p.M231K |
Missense |
8/14 |
- |
1 |
15-80464576-T-C |
c.692T>C |
p.M231T |
Missense |
8/14 |
- |
2 |
15-80464578-A-T |
c.694A>T |
p.N232Y |
Missense |
8/14 |
- |
1 |
15-80464579-A-G |
c.695A>G |
p.N232S |
Missense |
8/14 |
- |
1 |
15-80464580-C-A |
c.696C>A |
p.N232K |
Missense |
8/14 |
- |
2 |
15-80464580-C-T |
c.696C>T |
p.N232= |
Synonymous |
8/14 |
- |
1 |
15-80464581-G-A |
c.697G>A |
p.D233N |
Missense |
8/14 |
- |
1 |
15-80464581-G-T |
c.697G>T |
p.D233Y |
Missense |
8/14 |
- |
2 |
15-80464582-A-G |
c.698A>G |
p.D233G |
Missense |
8/14 |
- |
1 |
15-80464582-A-T |
c.698A>T |
p.D233V |
Missense |
8/14 |
- |
13 |
15-80464584-T-G |
c.700T>G |
p.W234G |
Missense |
8/14 |
- |
4 |
15-80464586-G-A |
c.702G>A |
p.W234* |
Nonsense |
8/14 |
- |
1 |
15-80464586-G-C |
c.702G>C |
p.W234C |
Missense |
8/14 |
- |
1 |
15-80464586-G-T |
c.702G>T |
p.W234C |
Missense |
8/14 |
- |
1 |
15-80464587-AG-GC |
c.703_704delinsGC |
p.S235A |
Missense |
8/14 |
- |
2 |
15-80464590-G-A |
c.706G>A |
p.A236T |
Missense |
8/14 |
- |
4 |
15-80464651-A-G |
c.706+61A>G |
- |
IntronicSNV |
- |
8/13 |
1 |
15-80464669-A-G |
c.706+79A>G |
- |
IntronicSNV |
- |
8/13 |
7 |
15-80464792-C-CAT |
c.706+202_706+203insAT |
- |
IntronicInsertion |
- |
8/13 |
1 |
15-80465249-A-C |
c.707-107A>C |
- |
IntronicSNV |
- |
8/13 |
4 |
15-80465249-A-G |
c.707-107A>G |
- |
IntronicSNV |
- |
8/13 |
4 |
15-80465249-A-T |
c.707-107A>T |
- |
IntronicSNV |
- |
8/13 |
4 |
15-80465300-G-A |
c.707-56G>A |
- |
IntronicSNV |
- |
8/13 |
6 |
15-80465355-G-A |
c.707-1G>A |
- |
IntronicSNV |
- |
8/13 |
2 |
15-80465355-G-T |
c.707-1G>T |
- |
IntronicSNV |
- |
8/13 |
2 |
15-80465356-C-T |
c.707C>T |
p.A236V |
Missense |
9/14 |
- |
1 |
15-80465358-C-T |
c.709C>T |
p.R237* |
Nonsense |
9/14 |
- |
13 |
15-80465359-G-A |
c.710G>A |
p.R237Q |
Missense |
9/14 |
- |
1 |
15-80465359-GA-AT |
c.710_711delinsAT |
p.R237H |
Missense |
9/14 |
- |
1 |
15-80465362-A-G |
c.713A>G |
p.D238G |
Missense |
9/14 |
- |
2 |
15-80465364-A-T |
c.715A>T |
p.I239F |
Missense |
9/14 |
- |
1 |
15-80465367-C-G |
c.718C>G |
p.Q240E |
Missense |
9/14 |
- |
2 |
15-80465367-C-T |
c.718C>T |
p.Q240* |
Nonsense |
9/14 |
- |
1 |
15-80465369-G-A |
c.720G>A |
p.Q240= |
Synonymous |
9/14 |
- |
1 |
15-80465372-G-A |
c.723G>A |
p.K241= |
Synonymous |
9/14 |
- |
1 |
15-80465374-G-A |
c.725G>A |
p.W242* |
Nonsense |
9/14 |
- |
1 |
15-80465374-G-T |
c.725G>T |
p.W242L |
Missense |
9/14 |
- |
1 |
15-80465375-G-A |
c.726G>A |
p.W242* |
Nonsense |
9/14 |
- |
2 |
15-80465376-G-T |
c.727G>T |
p.E243* |
Nonsense |
9/14 |
- |
1 |
15-80465390-C-A |
c.741C>A |
p.L247= |
Synonymous |
9/14 |
- |
1 |
15-80465390-C-G |
c.741C>G |
p.L247= |
Synonymous |
9/14 |
- |
2 |
15-80465390-C-T |
c.741C>T |
p.L247= |
Synonymous |
9/14 |
- |
4 |
15-80465391-G-A |
c.742G>A |
p.G248R |
Missense |
9/14 |
- |
4 |
15-80465392-G-C |
c.743G>C |
p.G248A |
Missense |
9/14 |
- |
1 |
15-80465392-G-T |
c.743G>T |
p.G248V |
Missense |
9/14 |
- |
1 |
15-80465390-CG-C |
c.744del |
p.P249Hfs*55 |
Frameshift |
9/14 |
- |
5 |
15-80465394-C-A |
c.745C>A |
p.P249T |
Missense |
9/14 |
- |
4 |
15-80465394-C-T |
c.745C>T |
p.P249S |
Missense |
9/14 |
- |
1 |
15-80465396-A-C |
c.747A>C |
p.P249= |
Synonymous |
9/14 |
- |
1 |
15-80465399-C-T |
c.750C>T |
p.F250= |
Synonymous |
9/14 |
- |
1 |
15-80465403-G-A |
c.754G>A |
p.G252R |
Missense |
9/14 |
- |
1 |
15-80465405-G-A |
c.756G>A |
p.G252= |
Synonymous |
9/14 |
- |
3 |
15-80465405-G-C |
c.756G>C |
p.G252= |
Synonymous |
9/14 |
- |
1 |
15-80465405-G-T |
c.756G>T |
p.G252= |
Synonymous |
9/14 |
- |
1 |
15-80465406-A-G |
c.757A>G |
p.K253E |
Missense |
9/14 |
- |
1 |
15-80465410-G-A |
c.761G>A |
p.S254N |
Missense |
9/14 |
- |
1 |
15-80465413-T-C |
c.764T>C |
p.F255S |
Missense |
9/14 |
- |
1 |
15-80465415-G-T |
c.766G>T |
p.G256W |
Missense |
9/14 |
- |
1 |
15-80465418-A-G |
c.769A>G |
p.T257A |
Missense |
9/14 |
- |
1 |
15-80465419-CC-TG |
c.770_771delinsTG |
p.T257M |
Missense |
9/14 |
- |
1 |
15-80465419-C-T |
c.770C>T |
p.T257I |
Missense |
9/14 |
- |
1 |
15-80465424-G-C |
c.775G>C |
p.V259L |
Missense |
9/14 |
- |
1 |
15-80465425-T-A |
c.776T>A |
p.V259D |
Missense |
9/14 |
- |
2 |
15-80465425-T-C |
c.776T>C |
p.V259A |
Missense |
9/14 |
- |
1 |
15-80465430-C-T |
c.781C>T |
p.P261S |
Missense |
9/14 |
- |
1 |
15-80465431-C-T |
c.782C>T |
p.P261L |
Missense |
9/14 |
- |
34 |
15-80465432-G-A |
c.783G>A |
p.P261= |
Synonymous |
9/14 |
- |
1 |
15-80465432-G-C |
c.783G>C |
p.P261= |
Synonymous |
9/14 |
- |
1 |
15-80465432-G-T |
c.783G>T |
p.P261= |
Synonymous |
9/14 |
- |
1 |
15-80465434-G-A |
c.785G>A |
p.W262* |
Nonsense |
9/14 |
- |
7 |
15-80465434-G-T |
c.785G>T |
p.W262L |
Missense |
9/14 |
- |
1 |
15-80465435-G-A |
c.786G>A |
p.W262* |
Nonsense |
9/14 |
- |
15 |
15-80465436-G-A |
c.787G>A |
p.V263M |
Missense |
9/14 |
- |
1 |
15-80465438-G-A |
c.789G>A |
p.V263= |
Synonymous |
9/14 |
- |
1 |
15-80465438-G-C |
c.789G>C |
p.V263= |
Synonymous |
9/14 |
- |
1 |
15-80465438-G-T |
c.789G>T |
p.V263= |
Synonymous |
9/14 |
- |
1 |
15-80465439-G-A |
c.790G>A |
p.V264M |
Missense |
9/14 |
- |
1 |
15-80465439-G-T |
c.790G>T |
p.V264L |
Missense |
9/14 |
- |
1 |
15-80465442-C-T |
c.793C>T |
p.P265S |
Missense |
9/14 |
- |
1 |
15-80465452-C-A |
c.803C>A |
p.A268D |
Missense |
9/14 |
- |
2 |
15-80465454-C-G |
c.805C>G |
p.L269V |
Missense |
9/14 |
- |
1 |
15-80465456-C-A |
c.807C>A |
p.L269= |
Synonymous |
9/14 |
- |
1 |
15-80465456-C-G |
c.807C>G |
p.L269= |
Synonymous |
9/14 |
- |
1 |
15-80465456-C-T |
c.807C>T |
p.L269= |
Synonymous |
9/14 |
- |
2 |
15-80465460-C-T |
c.811C>T |
p.P271S |
Missense |
9/14 |
- |
1 |
15-80465461-C-T |
c.812C>T |
p.P271L |
Missense |
9/14 |
- |
1 |
15-80465464-T-C |
c.815T>C |
p.F272S |
Missense |
9/14 |
- |
4 |
15-80465470-T-C |
c.821T>C |
p.V274A |
Missense |
9/14 |
- |
1 |
15-80465471-G-T |
c.822G>T |
p.V274= |
Synonymous |
9/14 |
- |
1 |
15-80465472-C-T |
c.823C>T |
p.P275S |
Missense |
9/14 |
- |
2 |
15-80465475-A-T |
c.826A>T |
p.N276Y |
Missense |
9/14 |
- |
1 |
15-80465476-A-G |
c.827A>G |
p.N276S |
Missense |
9/14 |
- |
3 |
15-80465479-C-G |
c.830C>G |
p.P277R |
Missense |
9/14 |
- |
1 |
15-80465479-C-T |
c.830C>T |
p.P277L |
Missense |
9/14 |
- |
1 |
15-80465480-G-A |
c.831G>A |
p.P277= |
Synonymous |
9/14 |
- |
3 |
15-80465480-G-C |
c.831G>C |
p.P277= |
Synonymous |
9/14 |
- |
3 |
15-80465480-G-T |
c.831G>T |
p.P277= |
Synonymous |
9/14 |
- |
3 |
15-80465482-A-G |
c.833A>G |
p.K278R |
Missense |
9/14 |
- |
1 |
15-80465483-G-A |
c.834G>A |
p.K278= |
Synonymous |
9/14 |
- |
2 |
15-80465483-G-C |
c.834G>C |
p.K278N |
Missense |
9/14 |
- |
1 |
15-80465483-G-T |
c.834G>T |
p.K278N |
Missense |
9/14 |
- |
1 |
15-80465483-G-GC |
c.835dup |
p.Q279Pfs*12 |
SpliceDonorInsertion |
9/14 |
- |
1 |
15-80465484-GC-G |
c.835del |
p.Q279Rfs*25 |
Frameshift |
9/14 |
- |
1 |
15-80465485-A-G |
c.836A>G |
p.Q279R |
Missense |
9/14 |
- |
9 |
15-80465486-G-A |
c.837G>A |
p.Q279= |
Synonymous |
9/14 |
- |
1 |
15-80465488-T-C |
c.837+2T>C |
- |
IntronicSNV |
- |
9/13 |
1 |
15-80465623-GC-G |
c.837+139del |
- |
IntronicDeletion |
- |
9/13 |
1 |
15-80467063-C-T |
c.838-295C>T |
- |
IntronicSNV |
- |
9/13 |
1 |
15-80467162-A-C |
c.838-196A>C |
- |
IntronicSNV |
- |
9/13 |
2 |
15-80467162-A-G |
c.838-196A>G |
- |
IntronicSNV |
- |
9/13 |
2 |
15-80467162-A-T |
c.838-196A>T |
- |
IntronicSNV |
- |
9/13 |
2 |
15-80467356-A-G |
c.838-2A>G |
- |
IntronicSNV |
- |
9/13 |
1 |
15-80467360-C-T |
c.840C>T |
p.D280= |
Synonymous |
10/14 |
- |
2 |
15-80467361-C-A |
c.841C>A |
p.P281T |
Missense |
10/14 |
- |
3 |
15-80467361-C-T |
c.841C>T |
p.P281S |
Missense |
10/14 |
- |
1 |
15-80467362-C-T |
c.842C>T |
p.P281L |
Missense |
10/14 |
- |
4 |
15-80467359-AC-A |
c.843del |
p.R282Gfs*22 |
Frameshift |
10/14 |
- |
1 |
15-80467364-AG-CA |
c.844_845delinsCA |
p.R282Q |
Missense |
10/14 |
- |
1 |
15-80467364-AGG-TGT |
c.844_846delinsTGT |
p.R282C |
Missense |
10/14 |
- |
1 |
15-80467365-G-A |
c.845G>A |
p.R282K |
Missense |
10/14 |
- |
1 |
15-80467365-G-C |
c.845G>C |
p.R282T |
Missense |
10/14 |
- |
1 |
15-80467368-C-T |
c.848C>T |
p.P283L |
Missense |
10/14 |
- |
4 |
15-80467369-C-A |
c.849C>A |
p.P283= |
Synonymous |
10/14 |
- |
1 |
15-80467369-C-G |
c.849C>G |
p.P283= |
Synonymous |
10/14 |
- |
1 |
15-80467369-C-T |
c.849C>T |
p.P283= |
Synonymous |
10/14 |
- |
1 |
15-80467371-T-C |
c.851T>C |
p.L284P |
Missense |
10/14 |
- |
1 |
15-80467373-C-G |
c.853C>G |
p.P285A |
Missense |
10/14 |
- |
1 |
15-80467374-C-T |
c.854C>T |
p.P285L |
Missense |
10/14 |
- |
2 |
15-80467375-G-A |
c.855G>A |
p.P285= |
Synonymous |
10/14 |
- |
1 |
15-80467379-C-T |
c.859C>T |
p.L287= |
Synonymous |
10/14 |
- |
4 |
15-80467380-T-A |
c.860T>A |
p.L287Q |
Missense |
10/14 |
- |
1 |
15-80467381-G-A |
c.861G>A |
p.L287= |
Synonymous |
10/14 |
- |
1 |
15-80467381-G-C |
c.861G>C |
p.L287= |
Synonymous |
10/14 |
- |
1 |
15-80467381-G-T |
c.861G>T |
p.L287= |
Synonymous |
10/14 |
- |
2 |
15-80467383-G-A |
c.863G>A |
p.C288Y |
Missense |
10/14 |
- |
1 |
15-80467383-G-T |
c.863G>T |
p.C288F |
Missense |
10/14 |
- |
1 |
15-80467386-A-G |
c.866A>G |
p.H289R |
Missense |
10/14 |
- |
1 |
15-80467390-C-T |
c.870C>T |
p.D290= |
Synonymous |
10/14 |
- |
3 |
15-80467391-G-T |
c.871G>T |
p.E291* |
Nonsense |
10/14 |
- |
1 |
15-80467392-A-C |
c.872A>C |
p.E291A |
Missense |
10/14 |
- |
1 |
15-80467398-A-T |
c.878A>T |
p.Y293F |
Missense |
10/14 |
- |
1 |
15-80467400-A-C |
c.880A>C |
p.T294P |
Missense |
10/14 |
- |
4 |
15-80467403-T-C |
c.883T>C |
p.F295L |
Missense |
10/14 |
- |
1 |
15-80467405-T-A |
c.885T>A |
p.F295L |
Missense |
10/14 |
- |
1 |
15-80467405-T-G |
c.885T>G |
p.F295L |
Missense |
10/14 |
- |
1 |
15-80467406-G-A |
c.886G>A |
p.D296N |
Missense |
10/14 |
- |
1 |
15-80467406-G-T |
c.886G>T |
p.D296Y |
Missense |
10/14 |
- |
1 |
15-80467407-A-T |
c.887A>T |
p.D296V |
Missense |
10/14 |
- |
6 |
15-80467410-T-A |
c.890T>A |
p.I297N |
Missense |
10/14 |
- |
1 |
15-80467414-C-A |
c.894C>A |
p.N298K |
Missense |
10/14 |
- |
1 |
15-80467417-C-A |
c.897C>A |
p.L299= |
Synonymous |
10/14 |
- |
2 |
15-80467417-C-G |
c.897C>G |
p.L299= |
Synonymous |
10/14 |
- |
1 |
15-80467417-C-T |
c.897C>T |
p.L299= |
Synonymous |
10/14 |
- |
1 |
15-80467414-CCT-C |
c.899_900del |
p.S300Cfs*2 |
Frameshift |
10/14 |
- |
1 |
15-80467421-G-T |
c.901G>T |
p.V301F |
Missense |
10/14 |
- |
1 |
15-80467424-A-T |
c.904A>T |
p.N302Y |
Missense |
10/14 |
- |
1 |
15-80467426-ACC-A |
c.906_907del |
p.L303Efs*17 |
Frameshift |
10/14 |
- |
1 |
15-80467427-C-T |
c.907C>T |
p.L303= |
Synonymous |
10/14 |
- |
2 |
15-80467429-G-A |
c.909G>A |
p.L303= |
Synonymous |
10/14 |
- |
3 |
15-80467429-G-C |
c.909G>C |
p.L303= |
Synonymous |
10/14 |
- |
2 |
15-80467429-G-T |
c.909G>T |
p.L303= |
Synonymous |
10/14 |
- |
2 |
15-80467430-A-G |
c.910A>G |
p.K304E |
Missense |
10/14 |
- |
2 |
15-80467433-G-C |
c.913G>C |
p.G305R |
Missense |
10/14 |
- |
2 |
15-80467438-G-A |
c.913+5G>A |
- |
IntronicSNV |
- |
10/13 |
1 |
15-80467626-G-T |
c.913+193G>T |
- |
IntronicSNV |
- |
10/13 |
4 |
15-80468362-CT-C |
c.913+938del |
- |
IntronicDeletion |
- |
10/13 |
1 |
15-80468586-A-G |
c.913+1153A>G |
- |
IntronicSNV |
- |
10/13 |
1 |
15-80468612-C-T |
c.913+1179C>T |
- |
IntronicSNV |
- |
10/13 |
1 |
15-80468696-T-A |
c.914-1183T>A |
- |
IntronicSNV |
- |
10/13 |
1 |
15-80468696-T-G |
c.914-1183T>G |
- |
IntronicSNV |
- |
10/13 |
1 |
15-80469563-T-C |
c.914-316T>C |
- |
IntronicSNV |
- |
10/13 |
1 |
15-80469822-T-C |
c.914-57T>C |
- |
IntronicSNV |
- |
10/13 |
1 |
15-80469877-AG-A |
c.914del |
p.G305Efs*4 |
Frameshift |
11/14 |
- |
1 |
15-80469881-G-A |
c.916G>A |
p.E306K |
Missense |
11/14 |
- |
1 |
15-80469884-G-A |
c.919G>A |
p.G307R |
Missense |
11/14 |
- |
1 |
15-80469884-G-C |
c.919G>C |
p.G307R |
Missense |
11/14 |
- |
1 |
15-80469886-A-C |
c.921A>C |
p.G307= |
Synonymous |
11/14 |
- |
2 |
15-80469886-A-G |
c.921A>G |
p.G307= |
Synonymous |
11/14 |
- |
3 |
15-80469897-C-T |
c.932C>T |
p.A311V |
Missense |
11/14 |
- |
2 |
15-80469898-G-T |
c.933G>T |
p.A311= |
Synonymous |
11/14 |
- |
2 |
15-80469902-AC-A |
c.939del |
p.I314Yfs*60 |
Frameshift |
11/14 |
- |
2 |
15-80469907-A-G |
c.942A>G |
p.I314M |
Missense |
11/14 |
- |
2 |
15-80469958-G-A |
c.960+33G>A |
- |
IntronicSNV |
- |
11/13 |
1 |
15-80470012-CCTTTTGGGATAT-C |
c.960+87_960+98del |
- |
IntronicDeletion |
- |
11/13 |
1 |
15-80470040-G-A |
c.960+115G>A |
- |
IntronicSNV |
- |
11/13 |
7 |
15-80472243-T-A |
c.961-223T>A |
- |
IntronicSNV |
- |
11/13 |
1 |
15-80472243-T-C |
c.961-223T>C |
- |
IntronicSNV |
- |
11/13 |
1 |
15-80472243-T-G |
c.961-223T>G |
- |
IntronicSNV |
- |
11/13 |
1 |
15-80472431-C-A |
c.961-35C>A |
- |
IntronicSNV |
- |
11/13 |
11 |
15-80472431-C-T |
c.961-35C>T |
- |
IntronicSNV |
- |
11/13 |
11 |
15-80472470-T-G |
c.965T>G |
p.M322R |
Missense |
12/14 |
- |
1 |
15-80472471-G-A |
c.966G>A |
p.M322I |
Missense |
12/14 |
- |
2 |
15-80472471-G-C |
c.966G>C |
p.M322I |
Missense |
12/14 |
- |
2 |
15-80472471-G-T |
c.966G>T |
p.M322I |
Missense |
12/14 |
- |
2 |
15-80472473-A-C |
c.968A>C |
p.Y323S |
Missense |
12/14 |
- |
1 |
15-80472474-C-A |
c.969C>A |
p.Y323* |
Nonsense |
12/14 |
- |
1 |
15-80472474-C-G |
c.969C>G |
p.Y323* |
Nonsense |
12/14 |
- |
1 |
15-80472477-G-C |
c.972G>C |
p.W324C |
Missense |
12/14 |
- |
1 |
15-80472477-G-T |
c.972G>T |
p.W324C |
Missense |
12/14 |
- |
1 |
15-80472479-CGA-GC |
c.974_976delinsGC |
p.T325Sfs*49 |
Frameshift |
12/14 |
- |
1 |
15-80472479-C-T |
c.974C>T |
p.T325M |
Missense |
12/14 |
- |
5 |
15-80472483-G-T |
c.978G>T |
p.M326I |
Missense |
12/14 |
- |
1 |
15-80472487-C-T |
c.982C>T |
p.Q328* |
Nonsense |
12/14 |
- |
3 |
15-80472488-A-G |
c.983A>G |
p.Q328R |
Missense |
12/14 |
- |
2 |
15-80472489-G-C |
c.984G>C |
p.Q328H |
Missense |
12/14 |
- |
1 |
15-80472489-G-T |
c.984G>T |
p.Q328H |
Missense |
12/14 |
- |
1 |
15-80472491-A-C |
c.986A>C |
p.Q329P |
Missense |
12/14 |
- |
1 |
15-80472492-G-A |
c.987G>A |
p.Q329= |
Synonymous |
12/14 |
- |
1 |
15-80472500-A-G |
c.995A>G |
p.H332R |
Missense |
12/14 |
- |
1 |
15-80472503-A-C |
c.998A>C |
p.H333P |
Missense |
12/14 |
- |
1 |
15-80472506-C-T |
c.1001C>T |
p.S334F |
Missense |
12/14 |
- |
2 |
15-80472508-G-A |
c.1003G>A |
p.V335I |
Missense |
12/14 |
- |
1 |
15-80472513-C-G |
c.1008C>G |
p.N336K |
Missense |
12/14 |
- |
1 |
15-80472514-G-A |
c.1009G>A |
p.G337S |
Missense |
12/14 |
- |
15 |
15-80472514-G-C |
c.1009G>C |
p.G337R |
Missense |
12/14 |
- |
1 |
15-80472515-G-A |
c.1010G>A |
p.G337D |
Missense |
12/14 |
- |
2 |
15-80472517-T-C |
c.1012T>C |
p.C338R |
Missense |
12/14 |
- |
1 |
15-80472518-TG-T |
c.1013del |
p.C338Sfs*36 |
Frameshift |
12/14 |
- |
1 |
15-80472526-C-A |
c.1021C>A |
p.R341= |
Synonymous |
12/14 |
- |
7 |
15-80472526-C-T |
c.1021C>T |
p.R341W |
Missense |
12/14 |
- |
29 |
15-80472527-G-C |
c.1022G>C |
p.R341P |
Missense |
12/14 |
- |
2 |
15-80472530-C-T |
c.1025C>T |
p.P342L |
Missense |
12/14 |
- |
9 |
15-80472531-G-A |
c.1026G>A |
p.P342= |
Synonymous |
12/14 |
- |
2 |
15-80472531-G-C |
c.1026G>C |
p.P342= |
Synonymous |
12/14 |
- |
1 |
15-80472531-G-T |
c.1026G>T |
p.P342= |
Synonymous |
12/14 |
- |
1 |
15-80472532-G-A |
c.1027G>A |
p.G343R |
Missense |
12/14 |
- |
4 |
15-80472532-G-C |
c.1027G>C |
p.G343R |
Missense |
12/14 |
- |
1 |
15-80472532-G-T |
c.1027G>T |
p.G343W |
Missense |
12/14 |
- |
6 |
15-80472533-G-A |
c.1028G>A |
p.G343E |
Missense |
12/14 |
- |
3 |
15-80472535-G-A |
c.1030G>A |
p.D344N |
Missense |
12/14 |
- |
1 |
15-80472536-ACCT-A |
c.1035_1037del |
p.L346del |
InFrameDeletion |
12/14 |
- |
2 |
15-80472540-C-T |
c.1035C>T |
p.L345= |
Synonymous |
12/14 |
- |
1 |
15-80472541-C-T |
c.1036C>T |
p.L346= |
Synonymous |
12/14 |
- |
1 |
15-80472543-G-A |
c.1038G>A |
p.L346= |
Synonymous |
12/14 |
- |
2 |
15-80472543-G-C |
c.1038G>C |
p.L346= |
Synonymous |
12/14 |
- |
1 |
15-80472543-G-T |
c.1038G>T |
p.L346= |
Synonymous |
12/14 |
- |
1 |
15-80472544-G-A |
c.1039G>A |
p.A347T |
Missense |
12/14 |
- |
2 |
15-80472547-TC-GG |
c.1042_1043delinsGG |
p.S348G |
Missense |
12/14 |
- |
1 |
15-80472557-T-A |
c.1052T>A |
p.I351N |
Missense |
12/14 |
- |
1 |
15-80472559-A-C |
c.1054A>C |
p.S352R |
Missense |
12/14 |
- |
2 |
15-80472561-C-A |
c.1056C>A |
p.S352R |
Missense |
12/14 |
- |
2 |
15-80472561-C-T |
c.1056C>T |
p.S352= |
Synonymous |
12/14 |
- |
10 |
15-80472562-G-A |
c.1057G>A |
p.G353R |
Missense |
12/14 |
- |
1 |
15-80472562-G-C |
c.1057G>C |
p.G353R |
Missense |
12/14 |
- |
1 |
15-80472563-G-A |
c.1058G>A |
p.G353E |
Missense |
12/14 |
- |
1 |
15-80472565-C-T |
c.1060C>T |
p.P354S |
Missense |
12/14 |
- |
1 |
15-80472566-C-A |
c.1061C>A |
p.P354Q |
Missense |
12/14 |
- |
2 |
15-80472566-C-G |
c.1061C>G |
p.P354R |
Missense |
12/14 |
- |
1 |
15-80472566-C-T |
c.1061C>T |
p.P354L |
Missense |
12/14 |
- |
3 |
15-80472567-G-A |
c.1062G>A |
p.P354= |
Synonymous |
12/14 |
- |
2 |
15-80472567-G-C |
c.1062G>C |
p.P354= |
Synonymous |
12/14 |
- |
1 |
15-80472567-G-T |
c.1062G>T |
p.P354= |
Synonymous |
12/14 |
- |
1 |
15-80472568-G-A |
c.1062+1G>A |
- |
IntronicSNV |
- |
12/13 |
2 |
15-80472572-G-A |
c.1062+5G>A |
- |
IntronicSNV |
- |
12/13 |
31 |
15-80472659-A-G |
c.1062+92A>G |
- |
IntronicSNV |
- |
12/13 |
1 |
15-80472667-C-T |
c.1062+100C>T |
- |
IntronicSNV |
- |
12/13 |
1 |
15-80473386-G-A |
c.1065G>A |
p.E355= |
Synonymous |
13/14 |
- |
1 |
15-80473389-A-AT |
c.1068_1069insT |
p.E357* |
Nonsense |
13/14 |
- |
1 |
15-80473390-G-T |
c.1069G>T |
p.E357* |
Nonsense |
13/14 |
- |
9 |
15-80473398-C-A |
c.1077C>A |
p.F359L |
Missense |
13/14 |
- |
1 |
15-80473399-G-A |
c.1078G>A |
p.G360S |
Missense |
13/14 |
- |
1 |
15-80473400-G-A |
c.1079G>A |
p.G360D |
Missense |
13/14 |
- |
1 |
15-80473402-T-C |
c.1081T>C |
p.S361P |
Missense |
13/14 |
- |
1 |
15-80473403-C-T |
c.1082C>T |
p.S361F |
Missense |
13/14 |
- |
6 |
15-80473404-C-T |
c.1083C>T |
p.S361= |
Synonymous |
13/14 |
- |
1 |
15-80473405-A-G |
c.1084A>G |
p.M362V |
Missense |
13/14 |
- |
2 |
15-80473406-T-C |
c.1085T>C |
p.M362T |
Missense |
13/14 |
- |
2 |
15-80473409-T-A |
c.1088T>A |
p.L363* |
Nonsense |
13/14 |
- |
1 |
15-80473411-G-A |
c.1090G>A |
p.E364K |
Missense |
13/14 |
- |
1 |
15-80473411-G-C |
c.1090G>C |
p.E364Q |
Missense |
13/14 |
- |
1 |
15-80473411-G-T |
c.1090G>T |
p.E364* |
Nonsense |
13/14 |
- |
5 |
15-80473414-C-A |
c.1093C>A |
p.L365M |
Missense |
13/14 |
- |
1 |
15-80473415-TGTC-T |
c.1097_1099del |
p.S366del |
InFrameDeletion |
13/14 |
- |
1 |
15-80473418-C-T |
c.1097C>T |
p.S366L |
Missense |
13/14 |
- |
4 |
15-80473419-G-A |
c.1098G>A |
p.S366= |
Synonymous |
13/14 |
- |
3 |
15-80473419-G-C |
c.1098G>C |
p.S366= |
Synonymous |
13/14 |
- |
1 |
15-80473419-G-T |
c.1098G>T |
p.S366= |
Synonymous |
13/14 |
- |
1 |
15-80473421-G-A |
c.1100G>A |
p.W367* |
Nonsense |
13/14 |
- |
1 |
15-80473420-TG-T |
c.1101del |
p.W367* |
Frameshift |
13/14 |
- |
2 |
15-80473423-A-C |
c.1102A>C |
p.K368Q |
Missense |
13/14 |
- |
1 |
15-80473427-G-T |
c.1106G>T |
p.G369V |
Missense |
13/14 |
- |
3 |
15-80473430-C-T |
c.1109C>T |
p.T370M |
Missense |
13/14 |
- |
1 |
15-80473433-A-G |
c.1112A>G |
p.K371R |
Missense |
13/14 |
- |
1 |
15-80473434-G-C |
c.1113G>C |
p.K371N |
Missense |
13/14 |
- |
1 |
15-80473434-G-T |
c.1113G>T |
p.K371N |
Missense |
13/14 |
- |
1 |
15-80473435-C-T |
c.1114C>T |
p.P372S |
Missense |
13/14 |
- |
1 |
15-80473445-T-C |
c.1124T>C |
p.L375P |
Missense |
13/14 |
- |
3 |
15-80473457-A-G |
c.1136A>G |
p.Q379R |
Missense |
13/14 |
- |
1 |
15-80473458-G-C |
c.1137G>C |
p.Q379H |
Missense |
13/14 |
- |
1 |
15-80473462-A-G |
c.1141A>G |
p.R381G |
Missense |
13/14 |
- |
6 |
15-80473462-AG-CA |
c.1141_1142delinsCA |
p.R381Q |
Missense |
13/14 |
- |
1 |
15-80473463-G-C |
c.1142G>C |
p.R381T |
Missense |
13/14 |
- |
1 |
15-80473464-G-A |
c.1143G>A |
p.R381= |
Synonymous |
13/14 |
- |
2 |
15-80473466-A-T |
c.1145A>T |
p.K382M |
Missense |
13/14 |
- |
1 |
15-80473468-T-A |
c.1147T>A |
p.F383I |
Missense |
13/14 |
- |
1 |
15-80473472-TG-AT |
c.1151_1152delinsAT |
p.L384H |
Missense |
13/14 |
- |
1 |
15-80473477-G-C |
c.1156G>C |
p.D386H |
Missense |
13/14 |
- |
1 |
15-80473480-G-A |
c.1159G>A |
p.G387R |
Missense |
13/14 |
- |
4 |
15-80473480-G-C |
c.1159G>C |
p.G387R |
Missense |
13/14 |
- |
2 |
15-80473481-G-A |
c.1160G>A |
p.G387E |
Missense |
13/14 |
- |
1 |
15-80473483-G-A |
c.1162G>A |
p.D388N |
Missense |
13/14 |
- |
1 |
15-80473492-A-G |
c.1171A>G |
p.I391V |
Missense |
13/14 |
- |
1 |
15-80473495-A-G |
c.1174A>G |
p.I392V |
Missense |
13/14 |
- |
3 |
15-80473495-A-AT |
c.1175dup |
p.T393Nfs*47 |
Frameshift |
13/14 |
- |
1 |
15-80473614-T-C |
c.1180+113T>C |
- |
IntronicSNV |
- |
13/13 |
2 |
15-80476575-A-G |
c.1181-1897A>G |
- |
IntronicSNV |
- |
13/13 |
1 |
15-80478262-G-A |
c.1181-210G>A |
- |
IntronicSNV |
- |
13/13 |
1 |
15-80478472-G-A |
c.1181G>A |
p.G394E |
Missense |
14/14 |
- |
2 |
15-80478483-G-A |
c.1192G>A |
p.G398R |
Missense |
14/14 |
- |
1 |
15-80478483-G-T |
c.1192G>T |
p.G398W |
Missense |
14/14 |
- |
2 |
15-80478484-G-A |
c.1193G>A |
p.G398E |
Missense |
14/14 |
- |
5 |
15-80478486-G-C |
c.1195G>C |
p.D399H |
Missense |
14/14 |
- |
1 |
15-80478490-G-A |
c.1199G>A |
p.G400D |
Missense |
14/14 |
- |
1 |
15-80478490-GT-AG |
c.1199_1200delinsAG |
p.G400E |
Missense |
14/14 |
- |
1 |
15-80478495-CGC-TGG |
c.1204_1206delinsTGG |
p.R402W |
Missense |
14/14 |
- |
2 |
15-80478495-C-T |
c.1204C>T |
p.R402C |
Missense |
14/14 |
- |
5 |
15-80478496-G-A |
c.1205G>A |
p.R402H |
Missense |
14/14 |
- |
1 |
15-80478496-GC-AA |
c.1205_1206delinsAA |
p.R402Q |
Missense |
14/14 |
- |
1 |
15-80478500-C-A |
c.1209C>A |
p.I403= |
Synonymous |
14/14 |
- |
1 |
15-80478500-C-G |
c.1209C>G |
p.I403M |
Missense |
14/14 |
- |
1 |
15-80478500-C-T |
c.1209C>T |
p.I403= |
Synonymous |
14/14 |
- |
3 |
15-80478501-G-A |
c.1210G>A |
p.G404S |
Missense |
14/14 |
- |
3 |
15-80478504-CTTT-C |
c.1213_1215del |
p.F405del |
InFrameDeletion |
14/14 |
- |
1 |
15-80478504-TT-CA |
c.1213_1214delinsCA |
p.F405H |
Missense |
14/14 |
- |
3 |
15-80478509-C-T |
c.1218C>T |
p.G406= |
Synonymous |
14/14 |
- |
1 |
15-80478519-G-A |
c.1228G>A |
p.G410R |
Missense |
14/14 |
- |
1 |
15-80478519-G-C |
c.1228G>C |
p.G410R |
Missense |
14/14 |
- |
1 |
15-80478519-GGA-AGC |
c.1228_1230delinsAGC |
p.G410S |
Missense |
14/14 |
- |
1 |
15-80478520-G-A |
c.1229G>A |
p.G410E |
Missense |
14/14 |
- |
1 |
15-80478522-A-T |
c.1231A>T |
p.K411* |
Nonsense |
14/14 |
- |
2 |
15-80478528-C-A |
c.1237C>A |
p.L413M |
Missense |
14/14 |
- |
1 |
15-80478531-C-T |
c.1240C>T |
p.P414S |
Missense |
14/14 |
- |
1 |
15-80478532-C-T |
c.1241C>T |
p.P414L |
Missense |
14/14 |
- |
1 |
15-80478540-C-T |
c.1249C>T |
p.L417= |
Synonymous |
14/14 |
- |
1 |
15-80478542-G-A |
c.1251G>A |
p.L417= |
Synonymous |
14/14 |
- |
1 |
15-80478542-G-C |
c.1251G>C |
p.L417= |
Synonymous |
14/14 |
- |
1 |
15-80478542-G-T |
c.1251G>T |
p.L417= |
Synonymous |
14/14 |
- |
1 |
15-80478544-C-T |
c.1253C>T |
p.P418L |
Missense |
14/14 |
- |
2 |
15-80478545-A-G |
c.1254A>G |
p.P418= |
Synonymous |
14/14 |
- |
1 |
15-80478547-C-T |
c.1256C>T |
p.S419L |
Missense |
14/14 |
- |
1 |
15-80478549-T-G |
c.1258T>G |
p.*420Gext*36 |
Missense |
14/14 |
- |
1 |
15-80478589-A-C |
c.*38A>C |
- |
3-UTRSNV |
14/14 |
- |
3 |
15-80478589-ACCCC-CTTTG |
c.*38_*42delinsCTTTG |
- |
3-UTRBlockSubstitution |
14/14 |
- |
1 |
15-80478590-C-A |
c.*39C>A |
- |
3-UTRSNV |
14/14 |
- |
2 |
15-80478590-C-T |
c.*39C>T |
- |
3-UTRSNV |
14/14 |
- |
2 |
15-80478591-C-T |
c.*40C>T |
- |
3-UTRSNV |
14/14 |
- |
2 |
15-80478592-C-T |
c.*41C>T |
- |
3-UTRSNV |
14/14 |
- |
2 |
15-80478593-C-G |
c.*42C>G |
- |
3-UTRSNV |
14/14 |
- |
2 |
15-80478593-C-CTTTG |
c.*45_*46insGTTT |
- |
3-UTRInsertion |
14/14 |
- |
2 |
15-80478600-C-G |
c.*49C>G |
- |
3-UTRSNV |
14/14 |
- |
1 |
15-80478623-G-A |
c.*72G>A |
- |
3-UTRSNV |
14/14 |
- |
1 |
15-80478639-C-T |
c.*88C>T |
- |
3-UTRSNV |
14/14 |
- |
7 |
15-80478645-T-C |
c.*94T>C |
- |
3-UTRSNV |
14/14 |
- |
8 |
15-80478672-C-T |
c.*121C>T |
- |
3-UTRSNV |
14/14 |
- |
1 |