X-68836154-T-C |
c.2T>C |
p.M1? |
Missense |
1/8 |
- |
3 |
X-68836155-G-GTCCGGGGGGCT |
c.3_4insTCCGGGGGGCT |
p.G2Sfs*59 |
Frameshift |
1/8 |
- |
1 |
X-68836154-TG-T |
c.5del |
p.G2Afs*55 |
Frameshift |
1/8 |
- |
1 |
X-68836157-G-C |
c.5G>C |
p.G2A |
Missense |
1/8 |
- |
1 |
X-68836158-C-A |
c.6C>A |
p.G2= |
Synonymous |
1/8 |
- |
3 |
X-68836158-C-G |
c.6C>G |
p.G2= |
Synonymous |
1/8 |
- |
3 |
X-68836158-C-T |
c.6C>T |
p.G2= |
Synonymous |
1/8 |
- |
3 |
X-68836160-A-C |
c.8A>C |
p.Y3S |
Missense |
1/8 |
- |
3 |
X-68836161-C-T |
c.9C>T |
p.Y3= |
Synonymous |
1/8 |
- |
1 |
X-68836164-G-A |
c.12G>A |
p.P4= |
Synonymous |
1/8 |
- |
2 |
X-68836164-G-C |
c.12G>C |
p.P4= |
Synonymous |
1/8 |
- |
2 |
X-68836164-G-T |
c.12G>T |
p.P4= |
Synonymous |
1/8 |
- |
3 |
X-68836165-G-T |
c.13G>T |
p.E5* |
Nonsense |
1/8 |
- |
1 |
X-68836167-G-A |
c.15G>A |
p.E5= |
Synonymous |
1/8 |
- |
1 |
X-68836168-GTG-ATC |
c.16_18delinsATC |
p.V6I |
Missense |
1/8 |
- |
1 |
X-68836169-T-C |
c.17T>C |
p.V6A |
Missense |
1/8 |
- |
1 |
X-68836170-G-A |
c.18G>A |
p.V6= |
Synonymous |
1/8 |
- |
1 |
X-68836170-G-C |
c.18G>C |
p.V6= |
Synonymous |
1/8 |
- |
1 |
X-68836170-G-T |
c.18G>T |
p.V6= |
Synonymous |
1/8 |
- |
1 |
X-68836171-G-C |
c.19G>C |
p.E7Q |
Missense |
1/8 |
- |
1 |
X-68836173-G-A |
c.21G>A |
p.E7= |
Synonymous |
1/8 |
- |
1 |
X-68836174-C-T |
c.22C>T |
p.R8C |
Missense |
1/8 |
- |
1 |
X-68836175-G-A |
c.23G>A |
p.R8H |
Missense |
1/8 |
- |
1 |
X-68836176-C-A |
c.24C>A |
p.R8= |
Synonymous |
1/8 |
- |
2 |
X-68836176-C-G |
c.24C>G |
p.R8= |
Synonymous |
1/8 |
- |
2 |
X-68836176-C-T |
c.24C>T |
p.R8= |
Synonymous |
1/8 |
- |
2 |
X-68836177-A-C |
c.25A>C |
p.R9= |
Synonymous |
1/8 |
- |
1 |
X-68836179-G-A |
c.27G>A |
p.R9= |
Synonymous |
1/8 |
- |
3 |
X-68836177-AG-A |
c.28del |
p.E10Nfs*47 |
Frameshift |
1/8 |
- |
1 |
X-68836180-G-A |
c.28G>A |
p.E10K |
Missense |
1/8 |
- |
6 |
X-68836181-A-C |
c.29A>C |
p.E10A |
Missense |
1/8 |
- |
1 |
X-68836181-A-G |
c.29A>G |
p.E10G |
Missense |
1/8 |
- |
1 |
X-68836182-A-C |
c.30A>C |
p.E10D |
Missense |
1/8 |
- |
2 |
X-68836182-A-T |
c.30A>T |
p.E10D |
Missense |
1/8 |
- |
2 |
X-68836186-C-A |
c.34C>A |
p.L12M |
Missense |
1/8 |
- |
1 |
X-68836189-CCT-AAG |
c.37_39delinsAAG |
p.P13K |
Missense |
1/8 |
- |
4 |
X-68836190-C-T |
c.38C>T |
p.P13L |
Missense |
1/8 |
- |
1 |
X-68836192-GC-AA |
c.40_41delinsAA |
p.A14K |
Missense |
1/8 |
- |
1 |
X-68836192-GCA-AAC |
c.40_42delinsAAC |
p.A14N |
Missense |
1/8 |
- |
1 |
X-68836192-G-T |
c.40G>T |
p.A14S |
Missense |
1/8 |
- |
2 |
X-68836193-C-T |
c.41C>T |
p.A14V |
Missense |
1/8 |
- |
2 |
X-68836195-GC-AG |
c.43_44delinsAG |
p.A15R |
Missense |
1/8 |
- |
1 |
X-68836196-C-A |
c.44C>A |
p.A15E |
Missense |
1/8 |
- |
1 |
X-68836196-C-T |
c.44C>T |
p.A15V |
Missense |
1/8 |
- |
1 |
X-68836194-AGCAGC-A |
c.45_49del |
p.P17Gfs*81 |
Frameshift |
1/8 |
- |
1 |
X-68836198-G-T |
c.46G>T |
p.A16S |
Missense |
1/8 |
- |
1 |
X-68836199-C-A |
c.47C>A |
p.A16E |
Missense |
1/8 |
- |
1 |
X-68836196-CAGCGCCGCGGGAGCGAGGG-C |
c.48_66del |
p.P17Rfs*34 |
Frameshift |
1/8 |
- |
1 |
X-68836202-C-T |
c.50C>T |
p.P17L |
Missense |
1/8 |
- |
1 |
X-68836204-CGG-AGC |
c.52_54delinsAGC |
p.R18S |
Missense |
1/8 |
- |
2 |
X-68836204-CGG-TGT |
c.52_54delinsTGT |
p.R18C |
Missense |
1/8 |
- |
1 |
X-68836207-G-A |
c.55G>A |
p.E19K |
Missense |
1/8 |
- |
1 |
X-68836208-A-C |
c.56A>C |
p.E19A |
Missense |
1/8 |
- |
1 |
X-68836210-CGA-TGT |
c.58_60delinsTGT |
p.R20C |
Missense |
1/8 |
- |
1 |
X-68836210-C-T |
c.58C>T |
p.R20* |
Nonsense |
1/8 |
- |
1 |
X-68836211-G-A |
c.59G>A |
p.R20Q |
Missense |
1/8 |
- |
1 |
X-68836211-GA-AT |
c.59_60delinsAT |
p.R20H |
Missense |
1/8 |
- |
1 |
X-68836212-A-AG |
c.63dup |
p.S22Efs*78 |
Frameshift |
1/8 |
- |
1 |
X-68836215-G-A |
c.63G>A |
p.G21= |
Synonymous |
1/8 |
- |
1 |
X-68836215-G-C |
c.63G>C |
p.G21= |
Synonymous |
1/8 |
- |
1 |
X-68836215-G-GT |
c.63_64insT |
p.S22* |
Nonsense |
1/8 |
- |
1 |
X-68836215-G-T |
c.63G>T |
p.G21= |
Synonymous |
1/8 |
- |
1 |
X-68836216-AG-GA |
c.64_65delinsGA |
p.S22D |
Missense |
1/8 |
- |
1 |
X-68836216-AG-GC |
c.64_65delinsGC |
p.S22A |
Missense |
1/8 |
- |
3 |
X-68836216-AG-TT |
c.64_65delinsTT |
p.S22F |
Missense |
1/8 |
- |
1 |
X-68836216-A-T |
c.64A>T |
p.S22C |
Missense |
1/8 |
- |
1 |
X-68836216-A-C |
c.64A>C |
p.S22R |
Missense |
1/8 |
- |
1 |
X-68836218-C-A |
c.66C>A |
p.S22R |
Missense |
1/8 |
- |
1 |
X-68836218-C-G |
c.66C>G |
p.S22R |
Missense |
1/8 |
- |
1 |
X-68836218-C-T |
c.66C>T |
p.S22= |
Synonymous |
1/8 |
- |
1 |
X-68836219-CAG-TGT |
c.67_69delinsTGT |
p.Q23C |
Missense |
1/8 |
- |
1 |
X-68836219-CCAG-C |
c.67_69del |
p.Q23del |
InFrameDeletion |
1/8 |
- |
1 |
X-68836219-C-G |
c.67C>G |
p.Q23E |
Missense |
1/8 |
- |
1 |
X-68836219-C-T |
c.67C>T |
p.Q23* |
Nonsense |
1/8 |
- |
1 |
X-68836225-TG-GC |
c.73_74delinsGC |
p.C25A |
Missense |
1/8 |
- |
1 |
X-68836227-C-T |
c.75C>T |
p.C25= |
Synonymous |
1/8 |
- |
2 |
X-68836228-GGG-TGT |
c.76_78delinsTGT |
p.G26C |
Missense |
1/8 |
- |
1 |
X-68836231-T-C |
c.79T>C |
p.C27R |
Missense |
1/8 |
- |
1 |
X-68836231-TG-GC |
c.79_80delinsGC |
p.C27A |
Missense |
1/8 |
- |
1 |
X-68836233-T-A |
c.81T>A |
p.C27* |
Nonsense |
1/8 |
- |
1 |
X-68836235-G-A |
c.83G>A |
p.G28D |
Missense |
1/8 |
- |
1 |
X-68836235-G-GC |
c.84dup |
p.G29Rfs*71 |
Frameshift |
1/8 |
- |
1 |
X-68836236-C-T |
c.84C>T |
p.G28= |
Synonymous |
1/8 |
- |
2 |
X-68836237-G-A |
c.85G>A |
p.G29R |
Missense |
1/8 |
- |
1 |
X-68836237-G-T |
c.85G>T |
p.G29W |
Missense |
1/8 |
- |
1 |
X-68836236-C-CG |
c.88dup |
p.A30Gfs*70 |
Frameshift |
1/8 |
- |
1 |
X-68836240-G-A |
c.88G>A |
p.A30T |
Missense |
1/8 |
- |
1 |
X-68836240-G-C |
c.88G>C |
p.A30P |
Missense |
1/8 |
- |
2 |
X-68836240-G-T |
c.88G>T |
p.A30S |
Missense |
1/8 |
- |
2 |
X-68836241-C-A |
c.89C>A |
p.A30D |
Missense |
1/8 |
- |
1 |
X-68836243-CCT-ATG |
c.91_93delinsATG |
p.P31M |
Missense |
1/8 |
- |
1 |
X-68836246-G-A |
c.94G>A |
p.A32T |
Missense |
1/8 |
- |
1 |
X-68836246-G-C |
c.94G>C |
p.A32P |
Missense |
1/8 |
- |
2 |
X-68836246-GC-AT |
c.94_95delinsAT |
p.A32I |
Missense |
1/8 |
- |
1 |
X-68836246-GC-TT |
c.94_95delinsTT |
p.A32F |
Missense |
1/8 |
- |
1 |
X-68836247-C-T |
c.95C>T |
p.A32V |
Missense |
1/8 |
- |
2 |
X-68836250-G-T |
c.98G>T |
p.R33L |
Missense |
1/8 |
- |
1 |
X-68836253-C-G |
c.101C>G |
p.A34G |
Missense |
1/8 |
- |
1 |
X-68836253-CG-AC |
c.101_102delinsAC |
p.A34D |
Missense |
1/8 |
- |
1 |
X-68836253-C-T |
c.101C>T |
p.A34V |
Missense |
1/8 |
- |
1 |
X-68836255-G-A |
c.103G>A |
p.G35S |
Missense |
1/8 |
- |
3 |
X-68836256-G-T |
c.104G>T |
p.G35V |
Missense |
1/8 |
- |
1 |
X-68836257-C-G |
c.105C>G |
p.G35= |
Synonymous |
1/8 |
- |
1 |
X-68836258-G-A |
c.106G>A |
p.E36K |
Missense |
1/8 |
- |
1 |
X-68836258-GA-AC |
c.106_107delinsAC |
p.E36T |
Missense |
1/8 |
- |
1 |
X-68836258-G-T |
c.106G>T |
p.E36* |
Nonsense |
1/8 |
- |
1 |
X-68836261-G-A |
c.109G>A |
p.G37R |
Missense |
1/8 |
- |
1 |
X-68836261-G-C |
c.109G>C |
p.G37R |
Missense |
1/8 |
- |
1 |
X-68836268-G-A |
c.116G>A |
p.S39N |
Missense |
1/8 |
- |
1 |
X-68836274-T-G |
c.122T>G |
p.L41R |
Missense |
1/8 |
- |
1 |
X-68836276-C-G |
c.124C>G |
p.L42V |
Missense |
1/8 |
- |
1 |
X-68836277-T-G |
c.125T>G |
p.L42R |
Missense |
1/8 |
- |
3 |
X-68836278-TC-T |
c.126del |
p.F43Sfs*14 |
Frameshift |
1/8 |
- |
1 |
X-68836279-T-A |
c.127T>A |
p.F43I |
Missense |
1/8 |
- |
1 |
X-68836279-T-G |
c.127T>G |
p.F43V |
Missense |
1/8 |
- |
8 |
X-68836279-TT-CA |
c.127_128delinsCA |
p.F43H |
Missense |
1/8 |
- |
1 |
X-68836280-T-A |
c.128T>A |
p.F43Y |
Missense |
1/8 |
- |
1 |
X-68836280-TC-GG |
c.128_129delinsGG |
p.F43W |
Missense |
1/8 |
- |
3 |
X-68836280-T-G |
c.128T>G |
p.F43C |
Missense |
1/8 |
- |
1 |
X-68836281-C-T |
c.129C>T |
p.F43= |
Synonymous |
1/8 |
- |
1 |
X-68836285-G-A |
c.133G>A |
p.G45S |
Missense |
1/8 |
- |
1 |
X-68836288-TT-GC |
c.136_137delinsGC |
p.F46A |
Missense |
1/8 |
- |
1 |
X-68836291-T-G |
c.139T>G |
p.F47V |
Missense |
1/8 |
- |
1 |
X-68836292-T-C |
c.140T>C |
p.F47S |
Missense |
1/8 |
- |
1 |
X-68836295-G-C |
c.143G>C |
p.G48A |
Missense |
1/8 |
- |
1 |
X-68836298-T-A |
c.146T>A |
p.L49H |
Missense |
1/8 |
- |
4 |
X-68836298-T-TC |
c.147dup |
p.S50Lfs*50 |
Frameshift |
1/8 |
- |
1 |
X-68836300-TCG-AAC |
c.148_150delinsAAC |
p.S50N |
Missense |
1/8 |
- |
1 |
X-68836300-T-G |
c.148T>G |
p.S50A |
Missense |
1/8 |
- |
1 |
X-68836302-G-A |
c.150G>A |
p.S50= |
Synonymous |
1/8 |
- |
1 |
X-68836302-G-C |
c.150G>C |
p.S50= |
Synonymous |
1/8 |
- |
1 |
X-68836302-G-T |
c.150G>T |
p.S50= |
Synonymous |
1/8 |
- |
1 |
X-68836306-GCC-CAA |
c.154_156delinsCAA |
p.A52Q |
Missense |
1/8 |
- |
1 |
X-68836306-GC-TG |
c.154_155delinsTG |
p.A52C |
Missense |
1/8 |
- |
1 |
X-68836307-C-A |
c.155C>A |
p.A52D |
Missense |
1/8 |
- |
1 |
X-68836307-C-T |
c.155C>T |
p.A52V |
Missense |
1/8 |
- |
1 |
X-68836308-C-A |
c.156C>A |
p.A52= |
Synonymous |
1/8 |
- |
1 |
X-68836310-T-A |
c.158T>A |
p.L53H |
Missense |
1/8 |
- |
2 |
X-68836312-CA-GC |
c.160_161delinsGC |
p.H54A |
Missense |
1/8 |
- |
1 |
X-68836312-C-T |
c.160C>T |
p.H54Y |
Missense |
1/8 |
- |
2 |
X-68836313-A-G |
c.161A>G |
p.H54R |
Missense |
1/8 |
- |
1 |
X-68836313-A-T |
c.161A>T |
p.H54L |
Missense |
1/8 |
- |
1 |
X-68836316-T-A |
c.164T>A |
p.L55Q |
Missense |
1/8 |
- |
1 |
X-68836316-T-C |
c.164T>C |
p.L55P |
Missense |
1/8 |
- |
2 |
X-68836316-T-G |
c.164T>G |
p.L55R |
Missense |
1/8 |
- |
3 |
X-68836318-CTG-ATC |
c.166_168delinsATC |
p.L56I |
Missense |
1/8 |
- |
1 |
X-68836319-T-C |
c.167T>C |
p.L56P |
Missense |
1/8 |
- |
1 |
X-68836318-C-T |
c.166C>T |
p.L56= |
Synonymous |
1/8 |
- |
1 |
X-68836320-G-A |
c.168G>A |
p.L56= |
Synonymous |
1/8 |
- |
1 |
X-68836320-G-C |
c.168G>C |
p.L56= |
Synonymous |
1/8 |
- |
1 |
X-68836320-G-T |
c.168G>T |
p.L56= |
Synonymous |
1/8 |
- |
1 |
X-68836322-C-T |
c.170C>T |
p.T57M |
Missense |
1/8 |
- |
1 |
X-68836322-CGTT-C |
c.173_175del |
p.L58del |
InFrameDeletion |
1/8 |
- |
1 |
X-68836326-G-C |
c.174G>C |
p.L58F |
Missense |
1/8 |
- |
3 |
X-68836326-G-T |
c.174G>T |
p.L58F |
Missense |
1/8 |
- |
2 |
X-68836327-TG-AA |
c.175_176delinsAA |
p.C59N |
Missense |
1/8 |
- |
1 |
X-68836328-G-A |
c.176G>A |
p.C59Y |
Missense |
1/8 |
- |
1 |
X-68836330-T-C |
c.178T>C |
p.C60R |
Missense |
1/8 |
- |
3 |
X-68836332-C-A |
c.180C>A |
p.C60* |
Nonsense |
1/8 |
- |
1 |
X-68836332-C-T |
c.180C>T |
p.C60= |
Synonymous |
1/8 |
- |
3 |
X-68836333-T-A |
c.181T>A |
p.Y61N |
Missense |
1/8 |
- |
1 |
X-68836333-T-C |
c.181T>C |
p.Y61H |
Missense |
1/8 |
- |
3 |
X-68836334-AC-A |
c.184del |
p.L62* |
Frameshift |
1/8 |
- |
1 |
X-68836336-C-A |
c.184C>A |
p.L62I |
Missense |
1/8 |
- |
2 |
X-68836337-T-C |
c.185T>C |
p.L62P |
Missense |
1/8 |
- |
1 |
X-68836336-C-T |
c.184C>T |
p.L62= |
Synonymous |
1/8 |
- |
1 |
X-68836338-A-C |
c.186A>C |
p.L62= |
Synonymous |
1/8 |
- |
1 |
X-68836338-A-G |
c.186A>G |
p.L62= |
Synonymous |
1/8 |
- |
1 |
X-68836338-A-T |
c.186A>T |
p.L62= |
Synonymous |
1/8 |
- |
3 |
X-68836339-G-A |
c.187G>A |
p.E63K |
Missense |
1/8 |
- |
2 |
X-68836340-GA-G |
c.188del |
p.E63Gfs*28 |
Frameshift |
1/8 |
- |
1 |
X-68836345-C-G |
c.193C>G |
p.R65G |
Missense |
1/8 |
- |
7 |
X-68836348-T-C |
c.196T>C |
p.S66P |
Missense |
1/8 |
- |
1 |
X-68836351-G-T |
c.199G>T |
p.E67* |
Nonsense |
1/8 |
- |
1 |
X-68836352-A-T |
c.200A>T |
p.E67V |
Missense |
1/8 |
- |
2 |
X-68836355-T-G |
c.203T>G |
p.L68W |
Missense |
1/8 |
- |
1 |
X-68836356-G-T |
c.204G>T |
p.L68F |
Missense |
1/8 |
- |
1 |
X-68836357-CG-TA |
c.205_206delinsTA |
p.R69* |
Nonsense |
1/8 |
- |
1 |
X-68836357-C-T |
c.205C>T |
p.R69W |
Missense |
1/8 |
- |
3 |
X-68836358-G-C |
c.206G>C |
p.R69P |
Missense |
1/8 |
- |
1 |
X-68836358-G-T |
c.206G>T |
p.R69L |
Missense |
1/8 |
- |
14 |
X-68836360-C-T |
c.208C>T |
p.R70W |
Missense |
1/8 |
- |
1 |
X-68836363-G-T |
c.211G>T |
p.E71* |
Nonsense |
1/8 |
- |
1 |
X-68836365-A-T |
c.213A>T |
p.E71D |
Missense |
1/8 |
- |
1 |
X-68836367-G-A |
c.215G>A |
p.R72H |
Missense |
1/8 |
- |
1 |
X-68836372-G-C |
c.220G>C |
p.A74P |
Missense |
1/8 |
- |
1 |
X-68836373-CC-AG |
c.221_222delinsAG |
p.A74E |
Missense |
1/8 |
- |
1 |
X-68836373-C-G |
c.221C>G |
p.A74G |
Missense |
1/8 |
- |
1 |
X-68836374-C-A |
c.222C>A |
p.A74= |
Synonymous |
1/8 |
- |
1 |
X-68836374-C-G |
c.222C>G |
p.A74= |
Synonymous |
1/8 |
- |
1 |
X-68836374-C-T |
c.222C>T |
p.A74= |
Synonymous |
1/8 |
- |
1 |
X-68836378-TC-AT |
c.226_227delinsAT |
p.S76I |
Missense |
1/8 |
- |
1 |
X-68836384-C-T |
c.232C>T |
p.L78F |
Missense |
1/8 |
- |
4 |
X-68836388-G-A |
c.236G>A |
p.G79D |
Missense |
1/8 |
- |
1 |
X-68836390-G-T |
c.238G>T |
p.G80C |
Missense |
1/8 |
- |
1 |
X-68836393-TCG-AAC |
c.241_243delinsAAC |
p.S81N |
Missense |
1/8 |
- |
3 |
X-68836394-C-T |
c.242C>T |
p.S81L |
Missense |
1/8 |
- |
2 |
X-68836401-C-G |
c.249C>G |
p.T83= |
Synonymous |
1/8 |
- |
1 |
X-68836395-GGGCACCCCT-G |
c.250_258del |
p.P84_T86del |
InFrameDeletion |
1/8 |
- |
1 |
X-68836404-CT-C |
c.252del |
p.G85Afs*6 |
Frameshift |
1/8 |
- |
3 |
X-68836405-G-C |
c.253G>C |
p.G85R |
Missense |
1/8 |
- |
1 |
X-68836406-G-C |
c.254G>C |
p.G85A |
Missense |
1/8 |
- |
1 |
X-68836408-A-C |
c.256A>C |
p.T86P |
Missense |
1/8 |
- |
1 |
X-68836410-C-A |
c.258C>A |
p.T86= |
Synonymous |
1/8 |
- |
1 |
X-68836410-C-G |
c.258C>G |
p.T86= |
Synonymous |
1/8 |
- |
1 |
X-68836410-C-T |
c.258C>T |
p.T86= |
Synonymous |
1/8 |
- |
3 |
X-68836414-G-A |
c.262G>A |
p.G88S |
Missense |
1/8 |
- |
1 |
X-68836418-C-A |
c.266C>A |
p.T89N |
Missense |
1/8 |
- |
2 |
X-68836418-C-T |
c.266C>T |
p.T89I |
Missense |
1/8 |
- |
1 |
X-68836420-CT-AA |
c.268_269delinsAA |
p.L90K |
Missense |
1/8 |
- |
1 |
X-68836423-A-G |
c.271A>G |
p.S91G |
Missense |
1/8 |
- |
1 |
X-68836425-C-T |
c.273C>T |
p.S91= |
Synonymous |
1/8 |
- |
1 |
X-68836427-G-A |
c.275G>A |
p.S92N |
Missense |
1/8 |
- |
4 |
X-68836429-C-T |
c.277C>T |
p.L93F |
Missense |
1/8 |
- |
2 |
X-68836431-C-CGAGG |
c.280_281insAGGG |
p.G94Efs*7 |
Frameshift |
1/8 |
- |
1 |
X-68836432-G-A |
c.280G>A |
p.G94S |
Missense |
1/8 |
- |
2 |
X-68836435-GGC-AAG |
c.283_285delinsAAG |
p.G95K |
Missense |
1/8 |
- |
1 |
X-68836437-C-A |
c.285C>A |
p.G95= |
Synonymous |
1/8 |
- |
2 |
X-68836437-C-T |
c.285C>T |
p.G95= |
Synonymous |
1/8 |
- |
1 |
X-68836439-T-C |
c.287T>C |
p.L96P |
Missense |
1/8 |
- |
1 |
X-68836440-C-A |
c.288C>A |
p.L96= |
Synonymous |
1/8 |
- |
1 |
X-68836440-C-G |
c.288C>G |
p.L96= |
Synonymous |
1/8 |
- |
1 |
X-68836440-C-T |
c.288C>T |
p.L96= |
Synonymous |
1/8 |
- |
1 |
X-68836441-G-C |
c.289G>C |
p.D97H |
Missense |
1/8 |
- |
1 |
X-68836445-C-A |
c.293C>A |
p.P98H |
Missense |
1/8 |
- |
2 |
X-68836450-A-G |
c.298A>G |
p.S100G |
Missense |
1/8 |
- |
1 |
X-68836450-AG-CC |
c.298_299delinsCC |
p.S100P |
Missense |
1/8 |
- |
1 |
X-68836453-C-T |
c.301C>T |
p.P101S |
Missense |
1/8 |
- |
6 |
X-68836451-GCC-G |
c.302_303del |
p.P101Hfs*11 |
Frameshift |
1/8 |
- |
2 |
X-68836455-C-A |
c.303C>A |
p.P101= |
Synonymous |
1/8 |
- |
3 |
X-68836460-C-T |
c.308C>T |
p.T103I |
Missense |
1/8 |
- |
3 |
X-68836462-AGT-GAG |
c.310_312delinsGAG |
p.S104E |
Missense |
1/8 |
- |
1 |
X-68836467-C-A |
c.315C>A |
p.H105Q |
Missense |
1/8 |
- |
1 |
X-68836469-T-C |
c.317T>C |
p.L106P |
Missense |
1/8 |
- |
1 |
X-68836470-T-C |
c.318T>C |
p.L106= |
Synonymous |
1/8 |
- |
1 |
X-68836475-A-T |
c.323A>T |
p.Q108L |
Missense |
1/8 |
- |
1 |
X-68836476-G-A |
c.324G>A |
p.Q108= |
Synonymous |
1/8 |
- |
4 |
X-68836481-C-A |
c.329C>A |
p.S110* |
Nonsense |
1/8 |
- |
2 |
X-68836481-C-G |
c.329C>G |
p.S110* |
Nonsense |
1/8 |
- |
1 |
X-68836484-C-T |
c.332C>T |
p.P111L |
Missense |
1/8 |
- |
1 |
X-68836486-A-C |
c.334A>C |
p.K112Q |
Missense |
1/8 |
- |
1 |
X-68836489-C-T |
c.337C>T |
p.Q113* |
Nonsense |
1/8 |
- |
1 |
X-68836495-C-A |
c.343C>A |
p.P115T |
Missense |
1/8 |
- |
1 |
X-68836497-A-G |
c.345A>G |
p.P115= |
Synonymous |
1/8 |
- |
1 |
X-68836498-T-C |
c.346T>C |
p.L116= |
Synonymous |
1/8 |
- |
1 |
X-68836499-T-A |
c.347T>A |
p.L116* |
Nonsense |
1/8 |
- |
3 |
X-68836499-T-C |
c.347T>C |
p.L116S |
Missense |
1/8 |
- |
1 |
X-68836499-TTGGAACCG-T |
c.347_354del |
p.L116Wfs*8 |
Frameshift |
1/8 |
- |
1 |
X-68836501-G-T |
c.349G>T |
p.E117* |
Nonsense |
1/8 |
- |
1 |
X-68836504-C-T |
c.352C>T |
p.P118S |
Missense |
1/8 |
- |
1 |
X-68836505-C-T |
c.353C>T |
p.P118L |
Missense |
1/8 |
- |
4 |
X-68836506-G-A |
c.354G>A |
p.P118= |
Synonymous |
1/8 |
- |
2 |
X-68836506-G-C |
c.354G>C |
p.P118= |
Synonymous |
1/8 |
- |
1 |
X-68836508-G-C |
c.356G>C |
p.G119A |
Missense |
1/8 |
- |
1 |
X-68836510-G-T |
c.358G>T |
p.E120* |
Nonsense |
1/8 |
- |
3 |
X-68836516-G-A |
c.364G>A |
p.A122T |
Missense |
1/8 |
- |
4 |
X-68836517-C-T |
c.365C>T |
p.A122V |
Missense |
1/8 |
- |
1 |
X-68836518-A-C |
c.366A>C |
p.A122= |
Synonymous |
1/8 |
- |
1 |
X-68836521-C-A |
c.369C>A |
p.L123= |
Synonymous |
1/8 |
- |
1 |
X-68836521-C-G |
c.369C>G |
p.L123= |
Synonymous |
1/8 |
- |
6 |
X-68836521-C-T |
c.369C>T |
p.L123= |
Synonymous |
1/8 |
- |
1 |
X-68836522-C-A |
c.370C>A |
p.H124N |
Missense |
1/8 |
- |
1 |
X-68836522-C-T |
c.370C>T |
p.H124Y |
Missense |
1/8 |
- |
1 |
X-68836523-A-G |
c.371A>G |
p.H124R |
Missense |
1/8 |
- |
1 |
X-68836526-C-G |
c.374C>G |
p.S125C |
Missense |
1/8 |
- |
4 |
X-68836525-TCTGA-T |
c.376_379del |
p.D126Pfs*10 |
Frameshift |
1/8 |
- |
2 |
X-68836528-GA-TG |
c.376_377delinsTG |
p.D126C |
Missense |
1/8 |
- |
2 |
X-68836531-T-A |
c.379T>A |
p.S127T |
Missense |
1/8 |
- |
1 |
X-68836532-C-T |
c.380C>T |
p.S127F |
Missense |
1/8 |
- |
2 |
X-68836533-C-A |
c.381C>A |
p.S127= |
Synonymous |
1/8 |
- |
1 |
X-68836533-C-G |
c.381C>G |
p.S127= |
Synonymous |
1/8 |
- |
1 |
X-68836533-C-T |
c.381C>T |
p.S127= |
Synonymous |
1/8 |
- |
4 |
X-68836534-C-A |
c.382C>A |
p.Q128K |
Missense |
1/8 |
- |
1 |
X-68836534-CA-AC |
c.382_383delinsAC |
p.Q128T |
Missense |
1/8 |
- |
1 |
X-68836534-C-T |
c.382C>T |
p.Q128* |
Nonsense |
1/8 |
- |
1 |
X-68836535-A-G |
c.383A>G |
p.Q128R |
Missense |
1/8 |
- |
1 |
X-68836536-G-A |
c.384G>A |
p.Q128= |
Synonymous |
1/8 |
- |
1 |
X-68836540-G-A |
c.388G>A |
p.G130R |
Missense |
1/8 |
- |
1 |
X-68836540-GGG-TGT |
c.388_390delinsTGT |
p.G130C |
Missense |
1/8 |
- |
1 |
X-68836541-G-C |
c.389G>C |
p.G130A |
Missense |
1/8 |
- |
1 |
X-68836539-CG-C |
c.390del |
p.H131Tfs*6 |
Frameshift |
1/8 |
- |
1 |
X-68836542-G-A |
c.390G>A |
p.G130= |
Synonymous |
1/8 |
- |
1 |
X-68836542-G-T |
c.390G>T |
p.G130= |
Synonymous |
1/8 |
- |
1 |
X-68836545-C-T |
c.393C>T |
p.H131= |
Synonymous |
1/8 |
- |
1 |
X-68836550-T-C |
c.396+2T>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68836551-G-A |
c.396+3G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68836553-G-A |
c.396+5G>A |
- |
IntronicSNV |
- |
1/7 |
2 |
X-68836586-C-T |
c.396+38C>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68836601-A-T |
c.396+53A>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68837768-A-AG |
c.396+1220_396+1221insG |
- |
IntronicInsertion |
- |
1/7 |
1 |
X-68837767-TAA-T |
c.396+1233_396+1234del |
- |
IntronicDeletion |
- |
1/7 |
1 |
X-68838844-C-T |
c.396+2296C>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68840767-C-T |
c.396+4219C>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68840800-T-G |
c.396+4252T>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68840986-C-T |
c.396+4438C>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68848807-G-C |
c.396+12259G>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68854501-G-T |
c.396+17953G>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68855957-T-C |
c.396+19409T>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68858035-G-A |
c.396+21487G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68859006-A-G |
c.396+22458A>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68863055-TA-T |
c.396+26517del |
- |
IntronicDeletion |
- |
1/7 |
1 |
X-68863962-GT-G |
c.396+27424del |
- |
IntronicDeletion |
- |
1/7 |
1 |
X-68872622-T-G |
c.396+36074T>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68872983-C-A |
c.396+36435C>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68880004-TGAA-T |
c.396+43458_396+43460del |
- |
IntronicDeletion |
- |
1/7 |
1 |
X-68880328-C-A |
c.396+43780C>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68883579-C-A |
c.396+47031C>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68883579-C-G |
c.396+47031C>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68883579-C-T |
c.396+47031C>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68886839-A-C |
c.396+50291A>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68886839-A-G |
c.396+50291A>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68886839-A-T |
c.396+50291A>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68886980-G-T |
c.396+50432G>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68890027-GT-G |
c.396+53498del |
- |
IntronicDeletion |
- |
1/7 |
1 |
X-68890047-C-T |
c.396+53499C>T |
- |
IntronicSNV |
- |
1/7 |
2 |
X-68890047-TC-T |
c.396+53499del |
- |
IntronicDeletion |
- |
1/7 |
1 |
X-68890051-C-T |
c.396+53503C>T |
- |
IntronicSNV |
- |
1/7 |
2 |
X-68890054-G-T |
c.396+53506G>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68890077-C-T |
c.396+53529C>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68890079-C-T |
c.396+53531C>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68890082-A-T |
c.396+53534A>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68890094-G-T |
c.396+53546G>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68890160-C-G |
c.396+53612C>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68890170-T-A |
c.396+53622T>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68890248-C-T |
c.396+53700C>T |
- |
IntronicSNV |
- |
1/7 |
4 |
X-68890298-C-G |
c.396+53750C>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68890472-CA-C |
c.396+53934del |
- |
IntronicDeletion |
- |
1/7 |
1 |
X-68892916-G-A |
c.396+56368G>A |
- |
IntronicSNV |
- |
1/7 |
2 |
X-68897243-G-A |
c.396+60695G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68897977-G-C |
c.396+61429G>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68901346-T-C |
c.396+64798T>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68901737-G-A |
c.396+65189G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68916372-CT-C |
c.396+79831del |
- |
IntronicDeletion |
- |
1/7 |
1 |
X-68917194-T-A |
c.396+80646T>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68919867-C-T |
c.396+83319C>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68919952-G-A |
c.396+83404G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68920036-A-G |
c.396+83488A>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68920327-C-G |
c.396+83779C>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68920327-C-T |
c.396+83779C>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68921057-G-A |
c.396+84509G>A |
- |
IntronicSNV |
- |
1/7 |
2 |
X-68923114-G-A |
c.396+86566G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68923502-G-A |
c.396+86954G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68923575-G-A |
c.396+87027G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68931998-A-T |
c.396+95450A>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68944701-C-A |
c.396+108153C>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68968677-G-A |
c.396+132129G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68969767-T-C |
c.396+133219T>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68975166-G-A |
c.396+138618G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68976918-A-G |
c.396+140370A>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68983938-A-C |
c.396+147390A>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68983938-A-T |
c.396+147390A>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68985702-T-C |
c.396+149154T>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68998109-G-A |
c.396+161561G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-68999878-T-G |
c.396+163330T>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69001854-A-G |
c.396+165306A>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69005143-A-G |
c.396+168595A>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69005798-A-T |
c.396+169250A>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69008633-G-A |
c.397-168244G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69017223-G-A |
c.397-159654G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69032614-T-C |
c.397-144263T>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69045521-G-T |
c.397-131356G>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69050587-G-A |
c.397-126290G>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69050587-G-C |
c.397-126290G>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69063594-T-TG |
c.397-113282dup |
- |
IntronicInsertion |
- |
1/7 |
1 |
X-69063594-T-TGG |
c.397-113282_397-113281insGG |
- |
IntronicInsertion |
- |
1/7 |
1 |
X-69066821-A-G |
c.397-110056A>G |
- |
IntronicSNV |
- |
1/7 |
3 |
X-69080565-T-C |
c.397-96312T>C |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69080840-G-A |
c.397-96037G>A |
- |
IntronicSNV |
- |
1/7 |
6 |
X-69081136-C-A |
c.397-95741C>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69088221-A-G |
c.397-88656A>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69108852-T-TATATATATATATA |
c.397-68025_397-68024insATATATATATATA |
- |
IntronicInsertion |
- |
1/7 |
1 |
X-69108852-T-TATATATATATATATATATA |
c.397-68025_397-68024insATATATATATATATATATA |
- |
IntronicInsertion |
- |
1/7 |
1 |
X-69109185-A-G |
c.397-67692A>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69113286-A-G |
c.397-63591A>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69113286-A-T |
c.397-63591A>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69124586-T-A |
c.397-52291T>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69148820-C-T |
c.397-28057C>T |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69157785-T-C |
c.397-19092T>C |
- |
IntronicSNV |
- |
1/7 |
4 |
X-69166978-T-A |
c.397-9899T>A |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69166978-T-G |
c.397-9899T>G |
- |
IntronicSNV |
- |
1/7 |
1 |
X-69176874-CAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGT-C |
c.397_455del |
p.M133Afs*6 |
Unclassified |
2/8 |
- |
1 |
X-69176877-A-G |
c.397A>G |
p.M133V |
Missense |
2/8 |
- |
1 |
X-69176878-T-C |
c.398T>C |
p.M133T |
Missense |
2/8 |
- |
1 |
X-69176880-G-A |
c.400G>A |
p.A134T |
Missense |
2/8 |
- |
2 |
X-69176880-GC-CG |
c.400_401delinsCG |
p.A134R |
Missense |
2/8 |
- |
1 |
X-69176881-C-T |
c.401C>T |
p.A134V |
Missense |
2/8 |
- |
2 |
X-69176886-TT-AG |
c.406_407delinsAG |
p.L136R |
Missense |
2/8 |
- |
1 |
X-69176888-G-C |
c.408G>C |
p.L136F |
Missense |
2/8 |
- |
2 |
X-69176888-G-T |
c.408G>T |
p.L136F |
Missense |
2/8 |
- |
3 |
X-69176890-A-G |
c.410A>G |
p.N137S |
Missense |
2/8 |
- |
1 |
X-69176892-T-C |
c.412T>C |
p.F138L |
Missense |
2/8 |
- |
3 |
X-69176892-T-G |
c.412T>G |
p.F138V |
Missense |
2/8 |
- |
1 |
X-69176894-C-A |
c.414C>A |
p.F138L |
Missense |
2/8 |
- |
3 |
X-69176894-C-G |
c.414C>G |
p.F138L |
Missense |
2/8 |
- |
3 |
X-69176893-T-A |
c.413T>A |
p.F138Y |
Missense |
2/8 |
- |
1 |
X-69176895-T-C |
c.415T>C |
p.F139L |
Missense |
2/8 |
- |
1 |
X-69176895-T-G |
c.415T>G |
p.F139V |
Missense |
2/8 |
- |
1 |
X-69176897-C-A |
c.417C>A |
p.F139L |
Missense |
2/8 |
- |
1 |
X-69176897-C-G |
c.417C>G |
p.F139L |
Missense |
2/8 |
- |
1 |
X-69176898-T-G |
c.418T>G |
p.F140V |
Missense |
2/8 |
- |
1 |
X-69176900-C-G |
c.420C>G |
p.F140L |
Missense |
2/8 |
- |
1 |
X-69176901-C-A |
c.421C>A |
p.P141T |
Missense |
2/8 |
- |
2 |
X-69176902-C-A |
c.422C>A |
p.P141H |
Missense |
2/8 |
- |
1 |
X-69176902-C-T |
c.422C>T |
p.P141L |
Missense |
2/8 |
- |
1 |
X-69176904-G-A |
c.424G>A |
p.D142N |
Missense |
2/8 |
- |
1 |
X-69176904-GA-CC |
c.424_425delinsCC |
p.D142P |
Missense |
2/8 |
- |
1 |
X-69176904-G-C |
c.424G>C |
p.D142H |
Missense |
2/8 |
- |
3 |
X-69176907-G-A |
c.427G>A |
p.E143K |
Missense |
2/8 |
- |
3 |
X-69176907-G-C |
c.427G>C |
p.E143Q |
Missense |
2/8 |
- |
1 |
X-69176913-CCA-AAC |
c.433_435delinsAAC |
p.P145N |
Missense |
2/8 |
- |
1 |
X-69176915-A-AATACTC |
c.435_436insATACTC |
p.P145_Y146insIL |
InFrameInsertion |
2/8 |
- |
1 |
X-69176917-A-G |
c.437A>G |
p.Y146C |
Missense |
2/8 |
- |
1 |
X-69176922-GA-CT |
c.442_443delinsCT |
p.E148L |
Missense |
2/8 |
- |
1 |
X-69176925-G-A |
c.445G>A |
p.E149K |
Missense |
2/8 |
- |
2 |
X-69176928-G-A |
c.448G>A |
p.E150K |
Missense |
2/8 |
- |
2 |
X-69176934-AGG-TGT |
c.454_456delinsTGT |
p.R152C |
Missense |
2/8 |
- |
1 |
X-69176934-AGG-TTT |
c.454_456delinsTTT |
p.R152F |
Missense |
2/8 |
- |
1 |
X-69176935-G-A |
c.455G>A |
p.R152K |
Missense |
2/8 |
- |
1 |
X-69176936-GCGTGTTCGCCGC-T |
c.456_468delinsT |
p.R152_R156delinsS |
MultiAAMissense |
2/8 |
- |
1 |
X-69176937-C-T |
c.457C>T |
p.R153C |
Missense |
2/8 |
- |
11 |
X-69176938-G-A |
c.458G>A |
p.R153H |
Missense |
2/8 |
- |
12 |
X-69176941-TT-AG |
c.461_462delinsAG |
p.V154E |
Missense |
2/8 |
- |
1 |
X-69176940-GT-G |
c.462del |
p.R155Afs*125 |
Frameshift |
2/8 |
- |
1 |
X-69176943-C-T |
c.463C>T |
p.R155C |
Missense |
2/8 |
- |
21 |
X-69176944-G-T |
c.464G>T |
p.R155L |
Missense |
2/8 |
- |
1 |
X-69176946-C-A |
c.466C>A |
p.R156S |
Missense |
2/8 |
- |
3 |
X-69176946-C-G |
c.466C>G |
p.R156G |
Missense |
2/8 |
- |
2 |
X-69176946-CG-AA |
c.466_467delinsAA |
p.R156N |
Missense |
2/8 |
- |
1 |
X-69176946-C-T |
c.466C>T |
p.R156C |
Missense |
2/8 |
- |
12 |
X-69176945-CCG-C |
c.467_468del |
p.R156Qfs*2 |
Frameshift |
2/8 |
- |
3 |
X-69176947-G-A |
c.467G>A |
p.R156H |
Missense |
2/8 |
- |
19 |
X-69176947-G-T |
c.467G>T |
p.R156L |
Missense |
2/8 |
- |
2 |
X-69176949-A-G |
c.469A>G |
p.N157D |
Missense |
2/8 |
- |
1 |
X-69176954-A-C |
c.474A>C |
p.K158N |
Missense |
2/8 |
- |
3 |
X-69176954-A-T |
c.474A>T |
p.K158N |
Missense |
2/8 |
- |
3 |
X-69176955-AG-GC |
c.475_476delinsGC |
p.R159A |
Missense |
2/8 |
- |
1 |
X-69176955-A-T |
c.475A>T |
p.R159* |
Nonsense |
2/8 |
- |
1 |
X-69176956-G-T |
c.476G>T |
p.R159I |
Missense |
2/8 |
- |
1 |
X-69176964-AG-GT |
c.484_485delinsGT |
p.S162V |
Missense |
2/8 |
- |
1 |
X-69176966-GC-G |
c.486del |
p.S162Rfs*118 |
Frameshift |
2/8 |
- |
2 |
X-69176971-A-C |
c.491A>C |
p.E164A |
Missense |
2/8 |
- |
3 |
X-69176970-GA-G |
c.492del |
p.G165Efs*115 |
Frameshift |
2/8 |
- |
1 |
X-69176974-G-A |
c.494G>A |
p.G165E |
Missense |
2/8 |
- |
2 |
X-69176974-G-C |
c.494G>C |
p.G165A |
Missense |
2/8 |
- |
1 |
X-69176977-C-T |
c.497C>T |
p.A166V |
Missense |
2/8 |
- |
2 |
X-69176980-A-G |
c.500A>G |
p.D167G |
Missense |
2/8 |
- |
1 |
X-69176982-G-T |
c.502G>T |
p.G168C |
Missense |
2/8 |
- |
4 |
X-69176983-G-A |
c.502+1G>A |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69177105-GCC-G |
c.502+125_502+126del |
- |
IntronicDeletion |
- |
2/7 |
1 |
X-69177187-CAAAA-C |
c.502+210_502+213del |
- |
IntronicDeletion |
- |
2/7 |
1 |
X-69180274-G-A |
c.502+3292G>A |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69195313-T-A |
c.502+18331T>A |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69195313-T-C |
c.502+18331T>C |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69198018-A-T |
c.502+21036A>T |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69215476-T-C |
c.503-27592T>C |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69215476-T-G |
c.503-27592T>G |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69215501-A-G |
c.503-27567A>G |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69225199-T-C |
c.503-17869T>C |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69229291-C-T |
c.503-13777C>T |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69240179-A-G |
c.503-2889A>G |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69240179-A-T |
c.503-2889A>T |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69242789-A-G |
c.503-279A>G |
- |
IntronicSNV |
- |
2/7 |
1 |
X-69243069-C-T |
c.504C>T |
p.G168= |
Synonymous |
3/8 |
- |
1 |
X-69243076-A-T |
c.511A>T |
p.K171* |
Nonsense |
3/8 |
- |
2 |
X-69243079-A-C |
c.514A>C |
p.N172H |
Missense |
3/8 |
- |
1 |
X-69243075-T-TA |
c.515dup |
p.N172Kfs*68 |
Frameshift |
3/8 |
- |
1 |
X-69243081-AC-A |
c.516del |
p.N172Kfs*108 |
Frameshift |
3/8 |
- |
1 |
X-69243084-G-A |
c.519G>A |
p.K173= |
Synonymous |
3/8 |
- |
1 |
X-69243089-A-G |
c.524A>G |
p.K175R |
Missense |
3/8 |
- |
1 |
X-69243090-G-T |
c.525G>T |
p.K175N |
Missense |
3/8 |
- |
1 |
X-69243091-G-T |
c.526G>T |
p.G176* |
Nonsense |
3/8 |
- |
1 |
X-69243092-G-A |
c.526+1G>A |
- |
IntronicSNV |
- |
3/7 |
2 |
X-69243118-T-A |
c.526+27T>A |
- |
IntronicSNV |
- |
3/7 |
2 |
X-69245198-A-G |
c.526+2107A>G |
- |
IntronicSNV |
- |
3/7 |
1 |
X-69247416-T-A |
c.527-291T>A |
- |
IntronicSNV |
- |
3/7 |
1 |
X-69247707-G-T |
c.527G>T |
p.G176V |
Missense |
4/8 |
- |
1 |
X-69247708-A-C |
c.528A>C |
p.G176= |
Synonymous |
4/8 |
- |
1 |
X-69247708-A-G |
c.528A>G |
p.G176= |
Synonymous |
4/8 |
- |
1 |
X-69247708-A-T |
c.528A>T |
p.G176= |
Synonymous |
4/8 |
- |
1 |
X-69247710-A-G |
c.530A>G |
p.K177R |
Missense |
4/8 |
- |
1 |
X-69247706-GGAAA-G |
c.532_535del |
p.K178Qfs*101 |
SpliceAcceptorDeletion |
4/8 |
- |
1 |
X-69247712-A-T |
c.532A>T |
p.K178* |
Nonsense |
4/8 |
- |
1 |
X-69247716-C-T |
c.536C>T |
p.A179V |
Missense |
4/8 |
- |
2 |
X-69247722-C-T |
c.542C>T |
p.P181L |
Missense |
4/8 |
- |
1 |
X-69247724-C-G |
c.544C>G |
p.P182A |
Missense |
4/8 |
- |
1 |
X-69247715-GCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC-G |
c.546_581del |
p.N185_P196del |
InFrameDeletion |
4/8 |
- |
4 |
X-69247728-GA-AC |
c.548_549delinsAC |
p.G183D |
Missense |
4/8 |
- |
1 |
X-69247729-A-C |
c.549A>C |
p.G183= |
Synonymous |
4/8 |
- |
1 |
X-69247729-A-G |
c.549A>G |
p.G183= |
Synonymous |
4/8 |
- |
1 |
X-69247729-A-T |
c.549A>T |
p.G183= |
Synonymous |
4/8 |
- |
1 |
X-69247730-C-A |
c.550C>A |
p.P184T |
Missense |
4/8 |
- |
9 |
X-69247730-CCC-TGG |
c.550_552delinsTGG |
p.P184W |
Missense |
4/8 |
- |
1 |
X-69247726-TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA-T |
c.553_588del |
p.N185_P196del |
InFrameDeletion |
4/8 |
- |
2 |
X-69247735-T-A |
c.555T>A |
p.N185K |
Missense |
4/8 |
- |
1 |
X-69247742-TCCAGGACCCCCAGGACCTCCAGGACCCC-T |
c.562_589del |
p.P188Rfs*83 |
Frameshift |
4/8 |
- |
1 |
X-69247743-C-T |
c.563C>T |
p.P188L |
Missense |
4/8 |
- |
2 |
X-69247746-G-A |
c.566G>A |
p.G189E |
Missense |
4/8 |
- |
2 |
X-69247749-C-A |
c.569C>A |
p.P190H |
Missense |
4/8 |
- |
1 |
X-69247750-C-A |
c.570C>A |
p.P190= |
Synonymous |
4/8 |
- |
1 |
X-69247751-CCCA-C |
c.571_573del |
p.P191del |
InFrameDeletion |
4/8 |
- |
1 |
X-69247738-CCCTCCAGGACCCCCAGGA-C |
c.572_589del |
p.P191_P196del |
InFrameDeletion |
4/8 |
- |
3 |
X-69247753-A-C |
c.573A>C |
p.P191= |
Synonymous |
4/8 |
- |
1 |
X-69247753-A-G |
c.573A>G |
p.P191= |
Synonymous |
4/8 |
- |
1 |
X-69247753-A-T |
c.573A>T |
p.P191= |
Synonymous |
4/8 |
- |
1 |
X-69247754-G-A |
c.574G>A |
p.G192R |
Missense |
4/8 |
- |
1 |
X-69247754-G-C |
c.574G>C |
p.G192R |
Missense |
4/8 |
- |
2 |
X-69247744-AGGACCCCCAGGACCTCCAGGACCCCAG-A |
c.577_603del |
p.P193_G201del |
InFrameDeletion |
4/8 |
- |
1 |
X-69247761-C-A |
c.581C>A |
p.P194Q |
Missense |
4/8 |
- |
1 |
X-69247761-C-T |
c.581C>T |
p.P194L |
Missense |
4/8 |
- |
2 |
X-69247762-A-C |
c.582A>C |
p.P194= |
Synonymous |
4/8 |
- |
1 |
X-69247762-A-G |
c.582A>G |
p.P194= |
Synonymous |
4/8 |
- |
1 |
X-69247762-A-T |
c.582A>T |
p.P194= |
Synonymous |
4/8 |
- |
1 |
X-69247764-G-A |
c.584G>A |
p.G195E |
Missense |
4/8 |
- |
1 |
X-69247765-ACCC-A |
c.587_589del |
p.P196del |
InFrameDeletion |
4/8 |
- |
1 |
X-69247766-CCCCAGGGACCCCCAGGAATTCCAGGGATT-C |
c.589_617del |
p.Q197Wfs*33 |
Frameshift |
4/8 |
- |
1 |
X-69247772-G-T |
c.592G>T |
p.G198* |
Nonsense |
4/8 |
- |
2 |
X-69247773-G-A |
c.593G>A |
p.G198E |
Missense |
4/8 |
- |
1 |
X-69247773-G-C |
c.593G>C |
p.G198A |
Missense |
4/8 |
- |
2 |
X-69247767-CCCAGGGACCCCCAGGAATT-C |
c.595_613del |
p.P199Ffs*75 |
Frameshift |
4/8 |
- |
1 |
X-69247776-C-A |
c.596C>A |
p.P199H |
Missense |
4/8 |
- |
1 |
X-69247774-A-AC |
c.599dup |
p.G201Rfs*39 |
Frameshift |
4/8 |
- |
1 |
X-69247779-C-A |
c.599C>A |
p.P200Q |
Missense |
4/8 |
- |
1 |
X-69247779-C-G |
c.599C>G |
p.P200R |
Missense |
4/8 |
- |
1 |
X-69247781-G-A |
c.601G>A |
p.G201R |
Missense |
4/8 |
- |
1 |
X-69247781-G-T |
c.601G>T |
p.G201* |
Nonsense |
4/8 |
- |
1 |
X-69247782-G-A |
c.602G>A |
p.G201E |
Missense |
4/8 |
- |
3 |
X-69247777-CCCAGGAATTCCAGGGATTCCTGGAATT-C |
c.605_631del |
p.I202_G210del |
InFrameDeletion |
4/8 |
- |
1 |
X-69247786-T-A |
c.606T>A |
p.I202= |
Synonymous |
4/8 |
- |
3 |
X-69247786-T-C |
c.606T>C |
p.I202= |
Synonymous |
4/8 |
- |
3 |
X-69247787-C-T |
c.607C>T |
p.P203S |
Missense |
4/8 |
- |
1 |
X-69247788-C-T |
c.608C>T |
p.P203L |
Missense |
4/8 |
- |
2 |
X-69247790-G-A |
c.610G>A |
p.G204R |
Missense |
4/8 |
- |
1 |
X-69247790-G-C |
c.610G>C |
p.G204R |
Missense |
4/8 |
- |
1 |
X-69247790-G-T |
c.610G>T |
p.G204W |
Missense |
4/8 |
- |
1 |
X-69247791-G-T |
c.611G>T |
p.G204V |
Missense |
4/8 |
- |
1 |
X-69247780-AGGAATTCCAGGGATTCCT-A |
c.612_629del |
p.I205_G210del |
InFrameDeletion |
4/8 |
- |
2 |
X-69247789-AG-A |
c.612del |
p.I205Ffs*75 |
Frameshift |
4/8 |
- |
1 |
X-69247792-G-A |
c.612G>A |
p.G204= |
Synonymous |
4/8 |
- |
1 |
X-69247792-G-C |
c.612G>C |
p.G204= |
Synonymous |
4/8 |
- |
1 |
X-69247792-G-T |
c.612G>T |
p.G204= |
Synonymous |
4/8 |
- |
1 |
X-69247795-T-C |
c.615T>C |
p.I205= |
Synonymous |
4/8 |
- |
1 |
X-69247796-C-T |
c.616C>T |
p.P206S |
Missense |
4/8 |
- |
2 |
X-69247797-C-T |
c.617C>T |
p.P206L |
Missense |
4/8 |
- |
1 |
X-69247798-T-A |
c.618T>A |
p.P206= |
Synonymous |
4/8 |
- |
1 |
X-69247799-G-A |
c.619G>A |
p.G207R |
Missense |
4/8 |
- |
3 |
X-69247799-G-C |
c.619G>C |
p.G207R |
Missense |
4/8 |
- |
2 |
X-69247798-TG-T |
c.620del |
p.G207Efs*73 |
Frameshift |
4/8 |
- |
1 |
X-69247800-G-A |
c.620G>A |
p.G207E |
Missense |
4/8 |
- |
1 |
X-69247800-G-T |
c.620G>T |
p.G207V |
Missense |
4/8 |
- |
3 |
X-69247804-T-A |
c.624T>A |
p.I208= |
Synonymous |
4/8 |
- |
1 |
X-69247804-T-C |
c.624T>C |
p.I208= |
Synonymous |
4/8 |
- |
1 |
X-69247806-C-T |
c.626C>T |
p.P209L |
Missense |
4/8 |
- |
4 |
X-69247807-A-G |
c.627A>G |
p.P209= |
Synonymous |
4/8 |
- |
1 |
X-69247806-CAGG-C |
c.628_630del |
p.G210del |
InFrameDeletion |
4/8 |
- |
1 |
X-69247808-G-A |
c.628G>A |
p.G210R |
Missense |
4/8 |
- |
1 |
X-69247808-GGA-AGC |
c.628_630delinsAGC |
p.G210S |
Missense |
4/8 |
- |
2 |
X-69247808-GG-AC |
c.628_629delinsAC |
p.G210T |
Missense |
4/8 |
- |
1 |
X-69247809-G-A |
c.629G>A |
p.G210E |
Missense |
4/8 |
- |
2 |
X-69247809-G-T |
c.629G>T |
p.G210V |
Missense |
4/8 |
- |
1 |
X-69247811-A-T |
c.631A>T |
p.T211S |
Missense |
4/8 |
- |
2 |
X-69247812-C-G |
c.632C>G |
p.T211R |
Missense |
4/8 |
- |
2 |
X-69247817-G-A |
c.637G>A |
p.V213I |
Missense |
4/8 |
- |
1 |
X-69247817-GT-G |
c.639del |
p.M214Wfs*66 |
Frameshift |
4/8 |
- |
1 |
X-69247821-T-A |
c.641T>A |
p.M214K |
Missense |
4/8 |
- |
1 |
X-69247822-G-A |
c.642G>A |
p.M214I |
Missense |
4/8 |
- |
1 |
X-69247824-G-A |
c.644G>A |
p.G215E |
Missense |
4/8 |
- |
3 |
X-69247826-C-T |
c.646C>T |
p.P216S |
Missense |
4/8 |
- |
1 |
X-69247822-GGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA-G |
c.648_683del |
p.P219_G230del |
InFrameDeletion |
4/8 |
- |
2 |
X-69247825-ACCACCTGGTCCTCCAGGT-A |
c.648_665del |
p.P220_P225del |
InFrameDeletion |
4/8 |
- |
1 |
X-69247828-A-C |
c.648A>C |
p.P216= |
Synonymous |
4/8 |
- |
1 |
X-69247828-A-G |
c.648A>G |
p.P216= |
Synonymous |
4/8 |
- |
1 |
X-69247828-A-T |
c.648A>T |
p.P216= |
Synonymous |
4/8 |
- |
1 |
X-69247830-C-A |
c.650C>A |
p.P217H |
Missense |
4/8 |
- |
1 |
X-69247832-G-A |
c.652G>A |
p.G218S |
Missense |
4/8 |
- |
1 |
X-69247833-G-A |
c.653G>A |
p.G218D |
Missense |
4/8 |
- |
2 |
X-69247833-G-T |
c.653G>T |
p.G218V |
Missense |
4/8 |
- |
1 |
X-69247835-C-G |
c.655C>G |
p.P219A |
Missense |
4/8 |
- |
1 |
X-69247836-C-T |
c.656C>T |
p.P219L |
Missense |
4/8 |
- |
1 |
X-69247828-ACCTGGTCCTCCAGGTCCT-A |
c.659_676del |
p.P220_P225del |
InFrameDeletion |
4/8 |
- |
3 |
X-69247839-C-T |
c.659C>T |
p.P220L |
Missense |
4/8 |
- |
4 |
X-69247842-G-A |
c.662G>A |
p.G221D |
Missense |
4/8 |
- |
2 |
X-69247834-TCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG-T |
c.663_697del |
p.P222Tfs*6 |
Frameshift |
4/8 |
- |
3 |
X-69247839-CAGGTCCTCCTGGTCCTCA-C |
c.663_680del |
p.P225_G230del |
InFrameDeletion |
4/8 |
- |
1 |
X-69247843-T-A |
c.663T>A |
p.G221= |
Synonymous |
4/8 |
- |
1 |
X-69247843-T-C |
c.663T>C |
p.G221= |
Synonymous |
4/8 |
- |
1 |
X-69247843-T-G |
c.663T>G |
p.G221= |
Synonymous |
4/8 |
- |
1 |
X-69247845-C-T |
c.665C>T |
p.P222L |
Missense |
4/8 |
- |
3 |
X-69247851-G-C |
c.671G>C |
p.G224A |
Missense |
4/8 |
- |
3 |
X-69247847-CCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT-C |
c.673_706+2del |
- |
InFrameDeletion |
4/8 |
4/7 |
1 |
X-69247853-C-T |
c.673C>T |
p.P225S |
Missense |
4/8 |
- |
1 |
X-69247851-GTCC-G |
c.674_676del |
p.P225del |
InFrameDeletion |
4/8 |
- |
1 |
X-69247854-C-G |
c.674C>G |
p.P225R |
Missense |
4/8 |
- |
1 |
X-69247854-C-T |
c.674C>T |
p.P225L |
Missense |
4/8 |
- |
1 |
X-69247856-C-T |
c.676C>T |
p.Q226* |
Nonsense |
4/8 |
- |
1 |
X-69247863-C-T |
c.683C>T |
p.P228L |
Missense |
4/8 |
- |
1 |
X-69247861-ACC-A |
c.685_686del |
p.P229Wfs*10 |
Frameshift |
4/8 |
- |
1 |
X-69247866-C-A |
c.686C>A |
p.P229H |
Missense |
4/8 |
- |
1 |
X-69247876-G-C |
c.696G>C |
p.Q232H |
Missense |
4/8 |
- |
1 |
X-69247876-G-T |
c.696G>T |
p.Q232H |
Missense |
4/8 |
- |
1 |
X-69247877-G-A |
c.697G>A |
p.G233R |
Missense |
4/8 |
- |
1 |
X-69247877-G-C |
c.697G>C |
p.G233R |
Missense |
4/8 |
- |
1 |
X-69247880-C-T |
c.700C>T |
p.P234S |
Missense |
4/8 |
- |
1 |
X-69247887-G-T |
c.706+1G>T |
- |
IntronicSNV |
- |
4/7 |
1 |
X-69247897-CCT-C |
c.706+11_706+12del |
- |
IntronicDeletion |
- |
4/7 |
2 |
X-69249261-C-G |
c.707-93C>G |
- |
IntronicSNV |
- |
4/7 |
1 |
X-69249352-AG-A |
c.707del |
p.G236Vfs*44 |
Frameshift |
5/8 |
- |
2 |
X-69249359-GC-TT |
c.712_713delinsTT |
p.A238F |
Missense |
5/8 |
- |
1 |
X-69249359-G-T |
c.712G>T |
p.A238S |
Missense |
5/8 |
- |
2 |
X-69249360-C-T |
c.713C>T |
p.A238V |
Missense |
5/8 |
- |
4 |
X-69249364-T-C |
c.717T>C |
p.D239= |
Synonymous |
5/8 |
- |
1 |
X-69249365-AA-CC |
c.718_719delinsCC |
p.K240P |
Missense |
5/8 |
- |
1 |
X-69249366-A-T |
c.719A>T |
p.K240I |
Missense |
5/8 |
- |
2 |
X-69249371-TGGAACTCG-T |
c.724_731del |
p.G242Rfs*21 |
Frameshift |
5/8 |
- |
1 |
X-69249372-G-A |
c.725G>A |
p.G242E |
Missense |
5/8 |
- |
1 |
X-69249372-G-C |
c.725G>C |
p.G242A |
Missense |
5/8 |
- |
1 |
X-69249373-A-T |
c.726A>T |
p.G242= |
Synonymous |
5/8 |
- |
1 |
X-69249374-A-G |
c.727A>G |
p.T243A |
Missense |
5/8 |
- |
2 |
X-69249372-GAACTCGAGAA-G |
c.729_738del |
p.R244Sfs*33 |
Frameshift |
5/8 |
- |
1 |
X-69249376-CTCGAGAA-C |
c.729_735del |
p.R244Tfs*34 |
Frameshift |
5/8 |
- |
1 |
X-69249377-C-T |
c.730C>T |
p.R244* |
Nonsense |
5/8 |
- |
2 |
X-69249378-G-A |
c.731G>A |
p.R244Q |
Missense |
5/8 |
- |
1 |
X-69249386-C-T |
c.739C>T |
p.Q247* |
Nonsense |
5/8 |
- |
1 |
X-69249387-A-C |
c.740A>C |
p.Q247P |
Missense |
5/8 |
- |
1 |
X-69249388-G-A |
c.741G>A |
p.Q247= |
Synonymous |
5/8 |
- |
1 |
X-69249393-G-A |
c.741+5G>A |
- |
IntronicSNV |
- |
5/7 |
1 |
X-69249435-G-C |
c.741+47G>C |
- |
IntronicSNV |
- |
5/7 |
1 |
X-69249513-G-T |
c.741+125G>T |
- |
IntronicSNV |
- |
5/7 |
2 |
X-69250308-C-T |
c.742-11C>T |
- |
IntronicSNV |
- |
5/7 |
5 |
X-69250317-AGCCAGCTGTGGTGCATCTACAGGGCCAAGGGTCAGCAATTCAAGTCAAGAAT-A |
c.742_793del |
p.P248Ifs*15 |
Unclassified |
6/8 |
- |
1 |
X-69250322-G-A |
c.745G>A |
p.A249T |
Missense |
6/8 |
- |
1 |
X-69250324-T-A |
c.747T>A |
p.A249= |
Synonymous |
6/8 |
- |
1 |
X-69250324-T-C |
c.747T>C |
p.A249= |
Synonymous |
6/8 |
- |
2 |
X-69250324-T-G |
c.747T>G |
p.A249= |
Synonymous |
6/8 |
- |
1 |
X-69250327-G-A |
c.750G>A |
p.V250= |
Synonymous |
6/8 |
- |
1 |
X-69250331-C-A |
c.754C>A |
p.H252N |
Missense |
6/8 |
- |
1 |
X-69250331-C-T |
c.754C>T |
p.H252Y |
Missense |
6/8 |
- |
3 |
X-69250332-A-T |
c.755A>T |
p.H252L |
Missense |
6/8 |
- |
7 |
X-69250333-T-A |
c.756T>A |
p.H252Q |
Missense |
6/8 |
- |
1 |
X-69250333-T-G |
c.756T>G |
p.H252Q |
Missense |
6/8 |
- |
1 |
X-69250335-T-C |
c.758T>C |
p.L253P |
Missense |
6/8 |
- |
2 |
X-69250337-C-T |
c.760C>T |
p.Q254* |
Nonsense |
6/8 |
- |
1 |
X-69250340-G-T |
c.763G>T |
p.G255C |
Missense |
6/8 |
- |
5 |
X-69250341-G-A |
c.764G>A |
p.G255D |
Missense |
6/8 |
- |
3 |
X-69250342-C-T |
c.765C>T |
p.G255= |
Synonymous |
6/8 |
- |
1 |
X-69250343-C-G |
c.766C>G |
p.Q256E |
Missense |
6/8 |
- |
1 |
X-69250343-C-T |
c.766C>T |
p.Q256* |
Nonsense |
6/8 |
- |
2 |
X-69250346-G-A |
c.769G>A |
p.G257R |
Missense |
6/8 |
- |
1 |
X-69250346-G-C |
c.769G>C |
p.G257R |
Missense |
6/8 |
- |
3 |
X-69250349-TCA-AAC |
c.772_774delinsAAC |
p.S258N |
Missense |
6/8 |
- |
1 |
X-69250353-C-A |
c.776C>A |
p.A259E |
Missense |
6/8 |
- |
9 |
X-69250356-T-G |
c.779T>G |
p.I260S |
Missense |
6/8 |
- |
5 |
X-69250359-A-G |
c.782A>G |
p.Q261R |
Missense |
6/8 |
- |
2 |
X-69250361-G-T |
c.784G>T |
p.V262F |
Missense |
6/8 |
- |
1 |
X-69250369-TG-CA |
c.792_793inv |
p.D265N |
SpliceDonorBlockSubstitution |
6/8 |
- |
1 |
X-69250370-G-T |
c.793G>T |
p.D265Y |
Missense |
6/8 |
- |
2 |
X-69250371-G-C |
c.793+1G>C |
- |
IntronicSNV |
- |
6/7 |
2 |
X-69253248-A-C |
c.794A>C |
p.D265A |
Missense |
7/8 |
- |
3 |
X-69253248-A-G |
c.794A>G |
p.D265G |
Missense |
7/8 |
- |
3 |
X-69253250-C-A |
c.796C>A |
p.L266I |
Missense |
7/8 |
- |
3 |
X-69253250-C-T |
c.796C>T |
p.L266F |
Missense |
7/8 |
- |
1 |
X-69253250-CT-TG |
c.796_797delinsTG |
p.L266C |
Missense |
7/8 |
- |
1 |
X-69253251-T-A |
c.797T>A |
p.L266H |
Missense |
7/8 |
- |
1 |
X-69253251-T-G |
c.797T>G |
p.L266R |
Missense |
7/8 |
- |
3 |
X-69253252-T-TG |
c.798_799insG |
p.S267Vfs*7 |
Frameshift |
7/8 |
- |
1 |
X-69253253-T-C |
c.799T>C |
p.S267P |
Missense |
7/8 |
- |
1 |
X-69253255-A-C |
c.801A>C |
p.S267= |
Synonymous |
7/8 |
- |
1 |
X-69253255-A-G |
c.801A>G |
p.S267= |
Synonymous |
7/8 |
- |
2 |
X-69253255-A-T |
c.801A>T |
p.S267= |
Synonymous |
7/8 |
- |
1 |
X-69253257-G-A |
c.803G>A |
p.G268D |
Missense |
7/8 |
- |
1 |
X-69253260-G-T |
c.806G>T |
p.G269V |
Missense |
7/8 |
- |
3 |
X-69253262-G-A |
c.808G>A |
p.V270M |
Missense |
7/8 |
- |
1 |
X-69253262-GT-AC |
c.808_809inv |
p.V270T |
Missense |
7/8 |
- |
1 |
X-69253263-GT-G |
c.809del |
p.V270Gfs*10 |
Frameshift |
7/8 |
- |
1 |
X-69253266-T-C |
c.812T>C |
p.L271P |
Missense |
7/8 |
- |
1 |
X-69253267-C-T |
c.813C>T |
p.L271= |
Synonymous |
7/8 |
- |
1 |
X-69253274-T-A |
c.820T>A |
p.W274R |
Missense |
7/8 |
- |
3 |
X-69253274-T-C |
c.820T>C |
p.W274R |
Missense |
7/8 |
- |
3 |
X-69253274-T-G |
c.820T>G |
p.W274G |
Missense |
7/8 |
- |
3 |
X-69253276-G-C |
c.822G>C |
p.W274C |
Missense |
7/8 |
- |
2 |
X-69253276-G-T |
c.822G>T |
p.W274C |
Missense |
7/8 |
- |
2 |
X-69253280-C-G |
c.826C>G |
p.R276G |
Missense |
7/8 |
- |
2 |
X-69253280-C-T |
c.826C>T |
p.R276C |
Missense |
7/8 |
- |
1 |
X-69253281-G-A |
c.827G>A |
p.R276H |
Missense |
7/8 |
- |
2 |
X-69253281-G-T |
c.827G>T |
p.R276L |
Missense |
7/8 |
- |
1 |
X-69253290-T-G |
c.836T>G |
p.M279R |
Missense |
7/8 |
- |
1 |
X-69253291-G-A |
c.837G>A |
p.M279I |
Missense |
7/8 |
- |
1 |
X-69253294-C-A |
c.840C>A |
p.N280K |
Missense |
7/8 |
- |
1 |
X-69253297-C-A |
c.843C>A |
p.P281= |
Synonymous |
7/8 |
- |
2 |
X-69253297-C-G |
c.843C>G |
p.P281= |
Synonymous |
7/8 |
- |
2 |
X-69253297-C-T |
c.843C>T |
p.P281= |
Synonymous |
7/8 |
- |
2 |
X-69253299-A-T |
c.845A>T |
p.K282M |
Missense |
7/8 |
- |
1 |
X-69253300-G-A |
c.846G>A |
p.K282= |
Synonymous |
7/8 |
- |
1 |
X-69253304-T-C |
c.850T>C |
p.F284L |
Missense |
7/8 |
- |
1 |
X-69253306-T-A |
c.852T>A |
p.F284L |
Missense |
7/8 |
- |
1 |
X-69253306-T-G |
c.852T>G |
p.F284L |
Missense |
7/8 |
- |
2 |
X-69253306-T-C |
c.852T>C |
p.F284= |
Synonymous |
7/8 |
- |
1 |
X-69253309-G-A |
c.855G>A |
p.K285= |
Synonymous |
7/8 |
- |
1 |
X-69253310-C-A |
c.856C>A |
p.L286I |
Missense |
7/8 |
- |
1 |
X-69253310-C-G |
c.856C>G |
p.L286V |
Missense |
7/8 |
- |
1 |
X-69253310-CT-AA |
c.856_857delinsAA |
p.L286K |
Missense |
7/8 |
- |
1 |
X-69253310-CTA-AAC |
c.856_858delinsAAC |
p.L286N |
Missense |
7/8 |
- |
1 |
X-69253310-CTA-ATG |
c.856_858delinsATG |
p.L286M |
Missense |
7/8 |
- |
1 |
X-69253310-CT-AC |
c.856_857delinsAC |
p.L286T |
Missense |
7/8 |
- |
1 |
X-69253310-CTA-GAC |
c.856_858delinsGAC |
p.L286D |
Missense |
7/8 |
- |
1 |
X-69253310-CTA-TAT |
c.856_858delinsTAT |
p.L286Y |
Missense |
7/8 |
- |
1 |
X-69253310-CTA-TGG |
c.856_858delinsTGG |
p.L286W |
Missense |
7/8 |
- |
1 |
X-69253310-CTA-TGT |
c.856_858delinsTGT |
p.L286C |
Missense |
7/8 |
- |
1 |
X-69253310-CTA-TTT |
c.856_858delinsTTT |
p.L286F |
Missense |
7/8 |
- |
1 |
X-69253310-CT-GA |
c.856_857delinsGA |
p.L286E |
Missense |
7/8 |
- |
1 |
X-69253310-CT-GC |
c.856_857delinsGC |
p.L286A |
Missense |
7/8 |
- |
1 |
X-69253310-CT-GG |
c.856_857delinsGG |
p.L286G |
Missense |
7/8 |
- |
1 |
X-69253310-CT-TC |
c.856_857delinsTC |
p.L286S |
Missense |
7/8 |
- |
1 |
X-69253311-T-A |
c.857T>A |
p.L286Q |
Missense |
7/8 |
- |
1 |
X-69253311-TA-AT |
c.857_858delinsAT |
p.L286H |
Missense |
7/8 |
- |
1 |
X-69253311-T-C |
c.857T>C |
p.L286P |
Missense |
7/8 |
- |
1 |
X-69253311-T-G |
c.857T>G |
p.L286R |
Missense |
7/8 |
- |
1 |
X-69253313-C-A |
c.859C>A |
p.H287N |
Missense |
7/8 |
- |
1 |
X-69253313-CA-AC |
c.859_860delinsAC |
p.H287T |
Missense |
7/8 |
- |
1 |
X-69253313-CA-AG |
c.859_860delinsAG |
p.H287S |
Missense |
7/8 |
- |
1 |
X-69253313-CA-AT |
c.859_860delinsAT |
p.H287I |
Missense |
7/8 |
- |
1 |
X-69253313-CA-GC |
c.859_860delinsGC |
p.H287A |
Missense |
7/8 |
- |
1 |
X-69253313-CA-GG |
c.859_860delinsGG |
p.H287G |
Missense |
7/8 |
- |
1 |
X-69253313-CA-GT |
c.859_860delinsGT |
p.H287V |
Missense |
7/8 |
- |
1 |
X-69253313-CAT-AAG |
c.859_861delinsAAG |
p.H287K |
Missense |
7/8 |
- |
1 |
X-69253313-CAT-ATG |
c.859_861inv |
p.H287M |
Missense |
7/8 |
- |
1 |
X-69253313-CA-TG |
c.859_860inv |
p.H287C |
Missense |
7/8 |
- |
1 |
X-69253313-CAT-GAG |
c.859_861delinsGAG |
p.H287E |
Missense |
7/8 |
- |
1 |
X-69253313-CA-TT |
c.859_860delinsTT |
p.H287F |
Missense |
7/8 |
- |
1 |
X-69253313-CAT-TGG |
c.859_861delinsTGG |
p.H287W |
Missense |
7/8 |
- |
1 |
X-69253313-C-G |
c.859C>G |
p.H287D |
Missense |
7/8 |
- |
1 |
X-69253313-C-T |
c.859C>T |
p.H287Y |
Missense |
7/8 |
- |
1 |
X-69253314-A-C |
c.860A>C |
p.H287P |
Missense |
7/8 |
- |
1 |
X-69253314-A-G |
c.860A>G |
p.H287R |
Missense |
7/8 |
- |
1 |
X-69253314-A-T |
c.860A>T |
p.H287L |
Missense |
7/8 |
- |
1 |
X-69253315-T-A |
c.861T>A |
p.H287Q |
Missense |
7/8 |
- |
1 |
X-69253315-T-G |
c.861T>G |
p.H287Q |
Missense |
7/8 |
- |
1 |
X-69253316-C-A |
c.862C>A |
p.P288T |
Missense |
7/8 |
- |
1 |
X-69253316-CC-AA |
c.862_863delinsAA |
p.P288N |
Missense |
7/8 |
- |
1 |
X-69253316-CC-AT |
c.862_863delinsAT |
p.P288I |
Missense |
7/8 |
- |
1 |
X-69253316-CCC-AAG |
c.862_864delinsAAG |
p.P288K |
Missense |
7/8 |
- |
1 |
X-69253316-CCC-ATG |
c.862_864delinsATG |
p.P288M |
Missense |
7/8 |
- |
1 |
X-69253316-CCC-GAG |
c.862_864delinsGAG |
p.P288E |
Missense |
7/8 |
- |
1 |
X-69253316-CCC-TGG |
c.862_864delinsTGG |
p.P288W |
Missense |
7/8 |
- |
1 |
X-69253316-CC-GA |
c.862_863delinsGA |
p.P288D |
Missense |
7/8 |
- |
1 |
X-69253316-CC-GG |
c.862_863inv |
p.P288G |
Missense |
7/8 |
- |
1 |
X-69253316-CC-GT |
c.862_863delinsGT |
p.P288V |
Missense |
7/8 |
- |
1 |
X-69253316-CC-TA |
c.862_863delinsTA |
p.P288Y |
Missense |
7/8 |
- |
1 |
X-69253316-CC-TG |
c.862_863delinsTG |
p.P288C |
Missense |
7/8 |
- |
1 |
X-69253316-CC-TT |
c.862_863delinsTT |
p.P288F |
Missense |
7/8 |
- |
1 |
X-69253316-C-G |
c.862C>G |
p.P288A |
Missense |
7/8 |
- |
1 |
X-69253316-C-T |
c.862C>T |
p.P288S |
Missense |
7/8 |
- |
1 |
X-69253317-C-A |
c.863C>A |
p.P288H |
Missense |
7/8 |
- |
1 |
X-69253317-CC-AA |
c.863_864delinsAA |
p.P288Q |
Missense |
7/8 |
- |
1 |
X-69253317-C-G |
c.863C>G |
p.P288R |
Missense |
7/8 |
- |
1 |
X-69253317-C-T |
c.863C>T |
p.P288L |
Missense |
7/8 |
- |
2 |
X-69253319-C-A |
c.865C>A |
p.R289S |
Missense |
7/8 |
- |
3 |
X-69253319-C-G |
c.865C>G |
p.R289G |
Missense |
7/8 |
- |
1 |
X-69253319-CG-AA |
c.865_866delinsAA |
p.R289N |
Missense |
7/8 |
- |
3 |
X-69253319-CG-AC |
c.865_866delinsAC |
p.R289T |
Missense |
7/8 |
- |
1 |
X-69253319-CG-AT |
c.865_866delinsAT |
p.R289I |
Missense |
7/8 |
- |
1 |
X-69253319-CGC-AAG |
c.865_867delinsAAG |
p.R289K |
Missense |
7/8 |
- |
1 |
X-69253319-CGC-ATG |
c.865_867delinsATG |
p.R289M |
Missense |
7/8 |
- |
1 |
X-69253319-CGC-GAG |
c.865_867delinsGAG |
p.R289E |
Missense |
7/8 |
- |
1 |
X-69253319-CGC-TGA |
c.865_867delinsTGA |
p.R289* |
Nonsense |
7/8 |
- |
1 |
X-69253319-CGC-TGG |
c.865_867delinsTGG |
p.R289W |
Missense |
7/8 |
- |
1 |
X-69253319-CG-GA |
c.865_866delinsGA |
p.R289D |
Missense |
7/8 |
- |
1 |
X-69253319-CG-GC |
c.865_866delinsGC |
p.R289A |
Missense |
7/8 |
- |
1 |
X-69253319-CG-GT |
c.865_866delinsGT |
p.R289V |
Missense |
7/8 |
- |
1 |
X-69253319-CG-TA |
c.865_866delinsTA |
p.R289Y |
Missense |
7/8 |
- |
1 |
X-69253319-CG-TT |
c.865_866delinsTT |
p.R289F |
Missense |
7/8 |
- |
1 |
X-69253319-C-T |
c.865C>T |
p.R289C |
Missense |
7/8 |
- |
17 |
X-69253320-G-A |
c.866G>A |
p.R289H |
Missense |
7/8 |
- |
9 |
X-69253320-G-C |
c.866G>C |
p.R289P |
Missense |
7/8 |
- |
3 |
X-69253320-GC-AA |
c.866_867delinsAA |
p.R289Q |
Missense |
7/8 |
- |
1 |
X-69253320-G-T |
c.866G>T |
p.R289L |
Missense |
7/8 |
- |
4 |
X-69253321-C-A |
c.867C>A |
p.R289= |
Synonymous |
7/8 |
- |
1 |
X-69253321-C-G |
c.867C>G |
p.R289= |
Synonymous |
7/8 |
- |
1 |
X-69253321-C-T |
c.867C>T |
p.R289= |
Synonymous |
7/8 |
- |
1 |
X-69253322-A-G |
c.868A>G |
p.S290G |
Missense |
7/8 |
- |
1 |
X-69253322-AG-CA |
c.868_869delinsCA |
p.S290H |
Missense |
7/8 |
- |
1 |
X-69253322-AG-CC |
c.868_869delinsCC |
p.S290P |
Missense |
7/8 |
- |
1 |
X-69253322-AGC-CAA |
c.868_870delinsCAA |
p.S290Q |
Missense |
7/8 |
- |
1 |
X-69253322-AGC-GAG |
c.868_870delinsGAG |
p.S290E |
Missense |
7/8 |
- |
1 |
X-69253322-AG-CT |
c.868_869inv |
p.S290L |
Missense |
7/8 |
- |
1 |
X-69253322-AGC-TGG |
c.868_870delinsTGG |
p.S290W |
Missense |
7/8 |
- |
1 |
X-69253322-AG-GA |
c.868_869delinsGA |
p.S290D |
Missense |
7/8 |
- |
1 |
X-69253322-AG-GC |
c.868_869delinsGC |
p.S290A |
Missense |
7/8 |
- |
1 |
X-69253322-AG-GT |
c.868_869delinsGT |
p.S290V |
Missense |
7/8 |
- |
1 |
X-69253322-AG-TA |
c.868_869delinsTA |
p.S290Y |
Missense |
7/8 |
- |
1 |
X-69253322-AG-TT |
c.868_869delinsTT |
p.S290F |
Missense |
7/8 |
- |
1 |
X-69253322-A-T |
c.868A>T |
p.S290C |
Missense |
7/8 |
- |
5 |
X-69253323-G-A |
c.869G>A |
p.S290N |
Missense |
7/8 |
- |
1 |
X-69253323-G-C |
c.869G>C |
p.S290T |
Missense |
7/8 |
- |
1 |
X-69253323-GC-AG |
c.869_870delinsAG |
p.S290K |
Missense |
7/8 |
- |
1 |
X-69253323-GC-TG |
c.869_870delinsTG |
p.S290M |
Missense |
7/8 |
- |
1 |
X-69253323-G-T |
c.869G>T |
p.S290I |
Missense |
7/8 |
- |
1 |
X-69253322-A-C |
c.868A>C |
p.S290R |
Missense |
7/8 |
- |
1 |
X-69253324-C-A |
c.870C>A |
p.S290R |
Missense |
7/8 |
- |
1 |
X-69253324-C-G |
c.870C>G |
p.S290R |
Missense |
7/8 |
- |
1 |
X-69253324-C-T |
c.870C>T |
p.S290= |
Synonymous |
7/8 |
- |
1 |
X-69253325-G-A |
c.871G>A |
p.G291R |
Missense |
7/8 |
- |
11 |
X-69253325-G-C |
c.871G>C |
p.G291R |
Missense |
7/8 |
- |
9 |
X-69253325-GG-AA |
c.871_872delinsAA |
p.G291K |
Missense |
7/8 |
- |
1 |
X-69253325-GG-AC |
c.871_872delinsAC |
p.G291T |
Missense |
7/8 |
- |
1 |
X-69253325-GG-AT |
c.871_872delinsAT |
p.G291M |
Missense |
7/8 |
- |
1 |
X-69253325-GG-CA |
c.871_872delinsCA |
p.G291Q |
Missense |
7/8 |
- |
1 |
X-69253325-GG-CC |
c.871_872inv |
p.G291P |
Missense |
7/8 |
- |
1 |
X-69253325-GG-CT |
c.871_872delinsCT |
p.G291L |
Missense |
7/8 |
- |
1 |
X-69253325-GGG-AAC |
c.871_873delinsAAC |
p.G291N |
Missense |
7/8 |
- |
1 |
X-69253325-GGG-AGC |
c.871_873delinsAGC |
p.G291S |
Missense |
7/8 |
- |
1 |
X-69253325-GGG-ATC |
c.871_873delinsATC |
p.G291I |
Missense |
7/8 |
- |
1 |
X-69253325-GGG-CAT |
c.871_873delinsCAT |
p.G291H |
Missense |
7/8 |
- |
1 |
X-69253325-GGG-TAT |
c.871_873delinsTAT |
p.G291Y |
Missense |
7/8 |
- |
1 |
X-69253325-GGG-TGT |
c.871_873delinsTGT |
p.G291C |
Missense |
7/8 |
- |
1 |
X-69253325-GGG-TTT |
c.871_873delinsTTT |
p.G291F |
Missense |
7/8 |
- |
1 |
X-69253325-G-T |
c.871G>T |
p.G291W |
Missense |
7/8 |
- |
5 |
X-69253326-G-A |
c.872G>A |
p.G291E |
Missense |
7/8 |
- |
1 |
X-69253326-G-C |
c.872G>C |
p.G291A |
Missense |
7/8 |
- |
2 |
X-69253326-GG-AC |
c.872_873delinsAC |
p.G291D |
Missense |
7/8 |
- |
1 |
X-69253326-G-T |
c.872G>T |
p.G291V |
Missense |
7/8 |
- |
1 |
X-69253328-G-A |
c.874G>A |
p.E292K |
Missense |
7/8 |
- |
3 |
X-69253328-GA-AC |
c.874_875delinsAC |
p.E292T |
Missense |
7/8 |
- |
1 |
X-69253328-GA-AG |
c.874_875delinsAG |
p.E292R |
Missense |
7/8 |
- |
1 |
X-69253328-GA-AT |
c.874_875delinsAT |
p.E292M |
Missense |
7/8 |
- |
1 |
X-69253328-GA-CC |
c.874_875delinsCC |
p.E292P |
Missense |
7/8 |
- |
1 |
X-69253328-GA-CT |
c.874_875delinsCT |
p.E292L |
Missense |
7/8 |
- |
1 |
X-69253328-GAG-AAC |
c.874_876delinsAAC |
p.E292N |
Missense |
7/8 |
- |
1 |
X-69253328-GAG-ATC |
c.874_876delinsATC |
p.E292I |
Missense |
7/8 |
- |
1 |
X-69253328-GAG-CAT |
c.874_876delinsCAT |
p.E292H |
Missense |
7/8 |
- |
1 |
X-69253328-GAG-TAT |
c.874_876delinsTAT |
p.E292Y |
Missense |
7/8 |
- |
1 |
X-69253328-GAG-TGT |
c.874_876delinsTGT |
p.E292C |
Missense |
7/8 |
- |
1 |
X-69253328-GAG-TTT |
c.874_876delinsTTT |
p.E292F |
Missense |
7/8 |
- |
1 |
X-69253328-GA-TC |
c.874_875inv |
p.E292S |
Missense |
7/8 |
- |
1 |
X-69253328-GA-TG |
c.874_875delinsTG |
p.E292W |
Missense |
7/8 |
- |
1 |
X-69253328-G-C |
c.874G>C |
p.E292Q |
Missense |
7/8 |
- |
2 |
X-69253329-A-C |
c.875A>C |
p.E292A |
Missense |
7/8 |
- |
1 |
X-69253329-A-G |
c.875A>G |
p.E292G |
Missense |
7/8 |
- |
1 |
X-69253329-A-T |
c.875A>T |
p.E292V |
Missense |
7/8 |
- |
1 |
X-69253326-GGGAGCTGGAGGTACTGGT-G |
c.876_893del |
p.E292_V297del |
InFrameDeletion |
7/8 |
- |
1 |
X-69253330-G-C |
c.876G>C |
p.E292D |
Missense |
7/8 |
- |
1 |
X-69253330-G-T |
c.876G>T |
p.E292D |
Missense |
7/8 |
- |
1 |
X-69253331-C-A |
c.877C>A |
p.L293M |
Missense |
7/8 |
- |
1 |
X-69253331-C-G |
c.877C>G |
p.L293V |
Missense |
7/8 |
- |
1 |
X-69253331-CT-AA |
c.877_878delinsAA |
p.L293K |
Missense |
7/8 |
- |
1 |
X-69253331-CT-AC |
c.877_878delinsAC |
p.L293T |
Missense |
7/8 |
- |
1 |
X-69253331-CT-GA |
c.877_878delinsGA |
p.L293E |
Missense |
7/8 |
- |
1 |
X-69253331-CTG-AAC |
c.877_879delinsAAC |
p.L293N |
Missense |
7/8 |
- |
1 |
X-69253331-CTG-ATC |
c.877_879delinsATC |
p.L293I |
Missense |
7/8 |
- |
1 |
X-69253331-CT-GC |
c.877_878delinsGC |
p.L293A |
Missense |
7/8 |
- |
2 |
X-69253331-CT-GG |
c.877_878delinsGG |
p.L293G |
Missense |
7/8 |
- |
1 |
X-69253331-CTG-GAC |
c.877_879delinsGAC |
p.L293D |
Missense |
7/8 |
- |
1 |
X-69253331-CTG-TAT |
c.877_879delinsTAT |
p.L293Y |
Missense |
7/8 |
- |
1 |
X-69253331-CTG-TGT |
c.877_879delinsTGT |
p.L293C |
Missense |
7/8 |
- |
1 |
X-69253331-CTG-TTT |
c.877_879delinsTTT |
p.L293F |
Missense |
7/8 |
- |
1 |
X-69253331-CT-TC |
c.877_878delinsTC |
p.L293S |
Missense |
7/8 |
- |
1 |
X-69253331-CT-TG |
c.877_878delinsTG |
p.L293W |
Missense |
7/8 |
- |
1 |
X-69253332-T-A |
c.878T>A |
p.L293Q |
Missense |
7/8 |
- |
1 |
X-69253332-T-C |
c.878T>C |
p.L293P |
Missense |
7/8 |
- |
4 |
X-69253332-T-G |
c.878T>G |
p.L293R |
Missense |
7/8 |
- |
5 |
X-69253332-TG-AT |
c.878_879delinsAT |
p.L293H |
Missense |
7/8 |
- |
1 |
X-69253331-C-T |
c.877C>T |
p.L293= |
Synonymous |
7/8 |
- |
2 |
X-69253333-G-A |
c.879G>A |
p.L293= |
Synonymous |
7/8 |
- |
3 |
X-69253333-G-C |
c.879G>C |
p.L293= |
Synonymous |
7/8 |
- |
2 |
X-69253333-G-T |
c.879G>T |
p.L293= |
Synonymous |
7/8 |
- |
2 |
X-69253334-G-A |
c.880G>A |
p.E294K |
Missense |
7/8 |
- |
1 |
X-69253334-GA-AC |
c.880_881delinsAC |
p.E294T |
Missense |
7/8 |
- |
1 |
X-69253334-GA-AG |
c.880_881delinsAG |
p.E294R |
Missense |
7/8 |
- |
1 |
X-69253334-GA-AT |
c.880_881delinsAT |
p.E294M |
Missense |
7/8 |
- |
1 |
X-69253334-GA-CC |
c.880_881delinsCC |
p.E294P |
Missense |
7/8 |
- |
1 |
X-69253334-GA-CT |
c.880_881delinsCT |
p.E294L |
Missense |
7/8 |
- |
1 |
X-69253334-GAG-AAC |
c.880_882delinsAAC |
p.E294N |
Missense |
7/8 |
- |
1 |
X-69253334-GAG-ATC |
c.880_882delinsATC |
p.E294I |
Missense |
7/8 |
- |
1 |
X-69253334-GAG-CAT |
c.880_882delinsCAT |
p.E294H |
Missense |
7/8 |
- |
1 |
X-69253334-GAG-TAT |
c.880_882delinsTAT |
p.E294Y |
Missense |
7/8 |
- |
1 |
X-69253334-GAG-TGT |
c.880_882delinsTGT |
p.E294C |
Missense |
7/8 |
- |
1 |
X-69253334-GAG-TTT |
c.880_882delinsTTT |
p.E294F |
Missense |
7/8 |
- |
1 |
X-69253334-GA-TC |
c.880_881inv |
p.E294S |
Missense |
7/8 |
- |
1 |
X-69253334-GA-TG |
c.880_881delinsTG |
p.E294W |
Missense |
7/8 |
- |
1 |
X-69253334-G-C |
c.880G>C |
p.E294Q |
Missense |
7/8 |
- |
1 |
X-69253334-G-T |
c.880G>T |
p.E294* |
Nonsense |
7/8 |
- |
1 |
X-69253335-A-C |
c.881A>C |
p.E294A |
Missense |
7/8 |
- |
1 |
X-69253335-A-G |
c.881A>G |
p.E294G |
Missense |
7/8 |
- |
1 |
X-69253335-A-T |
c.881A>T |
p.E294V |
Missense |
7/8 |
- |
1 |
X-69253336-G-C |
c.882G>C |
p.E294D |
Missense |
7/8 |
- |
1 |
X-69253336-G-T |
c.882G>T |
p.E294D |
Missense |
7/8 |
- |
1 |
X-69253337-G-A |
c.883G>A |
p.V295I |
Missense |
7/8 |
- |
1 |
X-69253337-G-C |
c.883G>C |
p.V295L |
Missense |
7/8 |
- |
1 |
X-69253337-G-T |
c.883G>T |
p.V295L |
Missense |
7/8 |
- |
1 |
X-69253337-GT-AA |
c.883_884delinsAA |
p.V295K |
Missense |
7/8 |
- |
1 |
X-69253337-GTA-AAC |
c.883_885delinsAAC |
p.V295N |
Missense |
7/8 |
- |
1 |
X-69253337-GTA-ATG |
c.883_885delinsATG |
p.V295M |
Missense |
7/8 |
- |
1 |
X-69253337-GT-AC |
c.883_884inv |
p.V295T |
Missense |
7/8 |
- |
1 |
X-69253337-GTA-CAT |
c.883_885delinsCAT |
p.V295H |
Missense |
7/8 |
- |
1 |
X-69253337-GT-AG |
c.883_884delinsAG |
p.V295R |
Missense |
7/8 |
- |
1 |
X-69253337-GTA-TAT |
c.883_885delinsTAT |
p.V295Y |
Missense |
7/8 |
- |
1 |
X-69253337-GTA-TGG |
c.883_885delinsTGG |
p.V295W |
Missense |
7/8 |
- |
1 |
X-69253337-GTA-TGT |
c.883_885delinsTGT |
p.V295C |
Missense |
7/8 |
- |
1 |
X-69253337-GTA-TTT |
c.883_885delinsTTT |
p.V295F |
Missense |
7/8 |
- |
1 |
X-69253337-GT-CA |
c.883_884delinsCA |
p.V295Q |
Missense |
7/8 |
- |
1 |
X-69253337-GT-CC |
c.883_884delinsCC |
p.V295P |
Missense |
7/8 |
- |
1 |
X-69253337-GT-TC |
c.883_884delinsTC |
p.V295S |
Missense |
7/8 |
- |
1 |
X-69253338-T-A |
c.884T>A |
p.V295E |
Missense |
7/8 |
- |
1 |
X-69253338-TA-AC |
c.884_885delinsAC |
p.V295D |
Missense |
7/8 |
- |
1 |
X-69253338-T-C |
c.884T>C |
p.V295A |
Missense |
7/8 |
- |
2 |
X-69253338-T-G |
c.884T>G |
p.V295G |
Missense |
7/8 |
- |
1 |
X-69253340-C-A |
c.886C>A |
p.L296M |
Missense |
7/8 |
- |
1 |
X-69253340-C-G |
c.886C>G |
p.L296V |
Missense |
7/8 |
- |
4 |
X-69253340-CT-AA |
c.886_887delinsAA |
p.L296K |
Missense |
7/8 |
- |
1 |
X-69253340-CT-AC |
c.886_887delinsAC |
p.L296T |
Missense |
7/8 |
- |
1 |
X-69253340-CT-GA |
c.886_887delinsGA |
p.L296E |
Missense |
7/8 |
- |
1 |
X-69253340-CTG-AAC |
c.886_888delinsAAC |
p.L296N |
Missense |
7/8 |
- |
1 |
X-69253340-CTG-ATC |
c.886_888delinsATC |
p.L296I |
Missense |
7/8 |
- |
1 |
X-69253340-CT-GC |
c.886_887delinsGC |
p.L296A |
Missense |
7/8 |
- |
1 |
X-69253340-CT-GG |
c.886_887delinsGG |
p.L296G |
Missense |
7/8 |
- |
1 |
X-69253340-CTG-GAC |
c.886_888delinsGAC |
p.L296D |
Missense |
7/8 |
- |
1 |
X-69253340-CTG-TAT |
c.886_888delinsTAT |
p.L296Y |
Missense |
7/8 |
- |
1 |
X-69253340-CTG-TGT |
c.886_888delinsTGT |
p.L296C |
Missense |
7/8 |
- |
1 |
X-69253340-CTG-TTT |
c.886_888delinsTTT |
p.L296F |
Missense |
7/8 |
- |
1 |
X-69253340-CT-TC |
c.886_887delinsTC |
p.L296S |
Missense |
7/8 |
- |
1 |
X-69253340-CT-TG |
c.886_887delinsTG |
p.L296W |
Missense |
7/8 |
- |
1 |
X-69253341-T-A |
c.887T>A |
p.L296Q |
Missense |
7/8 |
- |
1 |
X-69253341-T-C |
c.887T>C |
p.L296P |
Missense |
7/8 |
- |
1 |
X-69253341-T-G |
c.887T>G |
p.L296R |
Missense |
7/8 |
- |
1 |
X-69253341-TG-AT |
c.887_888delinsAT |
p.L296H |
Missense |
7/8 |
- |
1 |
X-69253343-G-A |
c.889G>A |
p.V297M |
Missense |
7/8 |
- |
1 |
X-69253343-G-C |
c.889G>C |
p.V297L |
Missense |
7/8 |
- |
1 |
X-69253343-G-T |
c.889G>T |
p.V297L |
Missense |
7/8 |
- |
1 |
X-69253343-GT-AA |
c.889_890delinsAA |
p.V297K |
Missense |
7/8 |
- |
1 |
X-69253343-GT-AC |
c.889_890inv |
p.V297T |
Missense |
7/8 |
- |
1 |
X-69253343-GT-AG |
c.889_890delinsAG |
p.V297R |
Missense |
7/8 |
- |
1 |
X-69253343-GT-CA |
c.889_890delinsCA |
p.V297Q |
Missense |
7/8 |
- |
1 |
X-69253343-GT-CC |
c.889_890delinsCC |
p.V297P |
Missense |
7/8 |
- |
1 |
X-69253343-GTG-AAC |
c.889_891delinsAAC |
p.V297N |
Missense |
7/8 |
- |
1 |
X-69253343-GTG-ATC |
c.889_891delinsATC |
p.V297I |
Missense |
7/8 |
- |
1 |
X-69253343-GTG-CAT |
c.889_891delinsCAT |
p.V297H |
Missense |
7/8 |
- |
1 |
X-69253343-GTG-TAT |
c.889_891delinsTAT |
p.V297Y |
Missense |
7/8 |
- |
1 |
X-69253343-GTG-TGT |
c.889_891delinsTGT |
p.V297C |
Missense |
7/8 |
- |
1 |
X-69253343-GTG-TTT |
c.889_891delinsTTT |
p.V297F |
Missense |
7/8 |
- |
1 |
X-69253343-GT-TC |
c.889_890delinsTC |
p.V297S |
Missense |
7/8 |
- |
1 |
X-69253343-GT-TG |
c.889_890delinsTG |
p.V297W |
Missense |
7/8 |
- |
1 |
X-69253344-T-A |
c.890T>A |
p.V297E |
Missense |
7/8 |
- |
1 |
X-69253344-T-C |
c.890T>C |
p.V297A |
Missense |
7/8 |
- |
1 |
X-69253344-T-G |
c.890T>G |
p.V297G |
Missense |
7/8 |
- |
1 |
X-69253344-TG-AC |
c.890_891delinsAC |
p.V297D |
Missense |
7/8 |
- |
1 |
X-69253345-G-A |
c.891G>A |
p.V297= |
Synonymous |
7/8 |
- |
2 |
X-69253346-G-A |
c.892G>A |
p.D298N |
Missense |
7/8 |
- |
1 |
X-69253346-GA-AC |
c.892_893delinsAC |
p.D298T |
Missense |
7/8 |
- |
1 |
X-69253346-GA-AG |
c.892_893delinsAG |
p.D298S |
Missense |
7/8 |
- |
1 |
X-69253346-GA-AT |
c.892_893delinsAT |
p.D298I |
Missense |
7/8 |
- |
1 |
X-69253346-GAC-AAG |
c.892_894delinsAAG |
p.D298K |
Missense |
7/8 |
- |
1 |
X-69253346-GAC-ATG |
c.892_894delinsATG |
p.D298M |
Missense |
7/8 |
- |
1 |
X-69253346-GA-CC |
c.892_893delinsCC |
p.D298P |
Missense |
7/8 |
- |
1 |
X-69253346-GAC-CAA |
c.892_894delinsCAA |
p.D298Q |
Missense |
7/8 |
- |
1 |
X-69253346-GA-CG |
c.892_893delinsCG |
p.D298R |
Missense |
7/8 |
- |
1 |
X-69253346-GA-CT |
c.892_893delinsCT |
p.D298L |
Missense |
7/8 |
- |
1 |
X-69253346-GAC-TGG |
c.892_894delinsTGG |
p.D298W |
Missense |
7/8 |
- |
1 |
X-69253346-GA-TG |
c.892_893delinsTG |
p.D298C |
Missense |
7/8 |
- |
1 |
X-69253346-GA-TT |
c.892_893delinsTT |
p.D298F |
Missense |
7/8 |
- |
1 |
X-69253346-G-C |
c.892G>C |
p.D298H |
Missense |
7/8 |
- |
5 |
X-69253346-G-T |
c.892G>T |
p.D298Y |
Missense |
7/8 |
- |
6 |
X-69253347-A-C |
c.893A>C |
p.D298A |
Missense |
7/8 |
- |
1 |
X-69253347-A-G |
c.893A>G |
p.D298G |
Missense |
7/8 |
- |
2 |
X-69253347-A-T |
c.893A>T |
p.D298V |
Missense |
7/8 |
- |
1 |
X-69253348-C-A |
c.894C>A |
p.D298E |
Missense |
7/8 |
- |
1 |
X-69253348-C-G |
c.894C>G |
p.D298E |
Missense |
7/8 |
- |
1 |
X-69253349-G-A |
c.895G>A |
p.G299S |
Missense |
7/8 |
- |
9 |
X-69253349-G-C |
c.895G>C |
p.G299R |
Missense |
7/8 |
- |
5 |
X-69253349-GG-AA |
c.895_896delinsAA |
p.G299N |
Missense |
7/8 |
- |
1 |
X-69253349-GG-AC |
c.895_896delinsAC |
p.G299T |
Missense |
7/8 |
- |
1 |
X-69253349-GG-AT |
c.895_896delinsAT |
p.G299I |
Missense |
7/8 |
- |
1 |
X-69253349-GG-CA |
c.895_896delinsCA |
p.G299H |
Missense |
7/8 |
- |
1 |
X-69253349-GGC-AAG |
c.895_897delinsAAG |
p.G299K |
Missense |
7/8 |
- |
1 |
X-69253349-GGC-ATG |
c.895_897delinsATG |
p.G299M |
Missense |
7/8 |
- |
1 |
X-69253349-GG-CC |
c.895_896inv |
p.G299P |
Missense |
7/8 |
- |
1 |
X-69253349-GGC-CAA |
c.895_897delinsCAA |
p.G299Q |
Missense |
7/8 |
- |
1 |
X-69253349-GG-CT |
c.895_896delinsCT |
p.G299L |
Missense |
7/8 |
- |
1 |
X-69253349-GGC-TGG |
c.895_897delinsTGG |
p.G299W |
Missense |
7/8 |
- |
1 |
X-69253349-GG-TA |
c.895_896delinsTA |
p.G299Y |
Missense |
7/8 |
- |
1 |
X-69253349-GG-TT |
c.895_896delinsTT |
p.G299F |
Missense |
7/8 |
- |
1 |
X-69253349-G-T |
c.895G>T |
p.G299C |
Missense |
7/8 |
- |
1 |
X-69253350-G-A |
c.896G>A |
p.G299D |
Missense |
7/8 |
- |
5 |
X-69253350-G-C |
c.896G>C |
p.G299A |
Missense |
7/8 |
- |
3 |
X-69253350-GC-AG |
c.896_897delinsAG |
p.G299E |
Missense |
7/8 |
- |
1 |
X-69253350-G-T |
c.896G>T |
p.G299V |
Missense |
7/8 |
- |
1 |
X-69253350-GCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTA-G |
c.898_924+8del |
- |
SpliceDonorDeletion |
7/8 |
7/7 |
1 |
X-69253350-GCAC-G |
c.898_900del |
p.T300del |
InFrameDeletion |
7/8 |
- |
1 |
X-69253352-A-C |
c.898A>C |
p.T300P |
Missense |
7/8 |
- |
1 |
X-69253352-AC-CA |
c.898_899delinsCA |
p.T300H |
Missense |
7/8 |
- |
1 |
X-69253352-ACC-CAA |
c.898_900delinsCAA |
p.T300Q |
Missense |
7/8 |
- |
1 |
X-69253352-ACC-GAG |
c.898_900delinsGAG |
p.T300E |
Missense |
7/8 |
- |
1 |
X-69253352-AC-CT |
c.898_899delinsCT |
p.T300L |
Missense |
7/8 |
- |
1 |
X-69253352-ACC-TGG |
c.898_900delinsTGG |
p.T300W |
Missense |
7/8 |
- |
1 |
X-69253352-AC-GA |
c.898_899delinsGA |
p.T300D |
Missense |
7/8 |
- |
1 |
X-69253352-AC-GG |
c.898_899delinsGG |
p.T300G |
Missense |
7/8 |
- |
1 |
X-69253352-AC-GT |
c.898_899inv |
p.T300V |
Missense |
7/8 |
- |
1 |
X-69253352-AC-TA |
c.898_899delinsTA |
p.T300Y |
Missense |
7/8 |
- |
1 |
X-69253352-AC-TG |
c.898_899delinsTG |
p.T300C |
Missense |
7/8 |
- |
1 |
X-69253352-AC-TT |
c.898_899delinsTT |
p.T300F |
Missense |
7/8 |
- |
1 |
X-69253352-A-G |
c.898A>G |
p.T300A |
Missense |
7/8 |
- |
1 |
X-69253352-A-T |
c.898A>T |
p.T300S |
Missense |
7/8 |
- |
1 |
X-69253353-C-A |
c.899C>A |
p.T300N |
Missense |
7/8 |
- |
1 |
X-69253353-CC-AG |
c.899_900delinsAG |
p.T300K |
Missense |
7/8 |
- |
2 |
X-69253353-CC-GG |
c.899_900inv |
p.T300R |
Missense |
7/8 |
- |
1 |
X-69253353-CC-TG |
c.899_900delinsTG |
p.T300M |
Missense |
7/8 |
- |
1 |
X-69253353-C-G |
c.899C>G |
p.T300S |
Missense |
7/8 |
- |
1 |
X-69253353-C-T |
c.899C>T |
p.T300I |
Missense |
7/8 |
- |
1 |
X-69253355-T-A |
c.901T>A |
p.Y301N |
Missense |
7/8 |
- |
1 |
X-69253355-TA-AC |
c.901_902delinsAC |
p.Y301T |
Missense |
7/8 |
- |
1 |
X-69253355-TA-AT |
c.901_902delinsAT |
p.Y301I |
Missense |
7/8 |
- |
1 |
X-69253355-TAC-AAG |
c.901_903delinsAAG |
p.Y301K |
Missense |
7/8 |
- |
1 |
X-69253355-TAC-ATG |
c.901_903delinsATG |
p.Y301M |
Missense |
7/8 |
- |
1 |
X-69253355-TA-CC |
c.901_902delinsCC |
p.Y301P |
Missense |
7/8 |
- |
1 |
X-69253355-TAC-CAA |
c.901_903delinsCAA |
p.Y301Q |
Missense |
7/8 |
- |
1 |
X-69253355-TA-CG |
c.901_902delinsCG |
p.Y301R |
Missense |
7/8 |
- |
1 |
X-69253355-TAC-GAG |
c.901_903delinsGAG |
p.Y301E |
Missense |
7/8 |
- |
1 |
X-69253355-TA-CT |
c.901_902delinsCT |
p.Y301L |
Missense |
7/8 |
- |
1 |
X-69253355-TA-GC |
c.901_902delinsGC |
p.Y301A |
Missense |
7/8 |
- |
1 |
X-69253355-TA-GG |
c.901_902delinsGG |
p.Y301G |
Missense |
7/8 |
- |
1 |
X-69253355-TA-GT |
c.901_902delinsGT |
p.Y301V |
Missense |
7/8 |
- |
1 |
X-69253355-T-C |
c.901T>C |
p.Y301H |
Missense |
7/8 |
- |
1 |
X-69253355-T-G |
c.901T>G |
p.Y301D |
Missense |
7/8 |
- |
1 |
X-69253356-A-C |
c.902A>C |
p.Y301S |
Missense |
7/8 |
- |
1 |
X-69253356-AC-GG |
c.902_903delinsGG |
p.Y301W |
Missense |
7/8 |
- |
1 |
X-69253356-A-G |
c.902A>G |
p.Y301C |
Missense |
7/8 |
- |
2 |
X-69253356-A-T |
c.902A>T |
p.Y301F |
Missense |
7/8 |
- |
1 |
X-69253358-T-A |
c.904T>A |
p.F302I |
Missense |
7/8 |
- |
1 |
X-69253358-T-C |
c.904T>C |
p.F302L |
Missense |
7/8 |
- |
1 |
X-69253358-T-G |
c.904T>G |
p.F302V |
Missense |
7/8 |
- |
1 |
X-69253358-TT-AA |
c.904_905inv |
p.F302N |
Missense |
7/8 |
- |
1 |
X-69253358-TT-AC |
c.904_905delinsAC |
p.F302T |
Missense |
7/8 |
- |
1 |
X-69253358-TT-CA |
c.904_905delinsCA |
p.F302H |
Missense |
7/8 |
- |
1 |
X-69253358-TTC-AAG |
c.904_906delinsAAG |
p.F302K |
Missense |
7/8 |
- |
1 |
X-69253358-TTC-ATG |
c.904_906delinsATG |
p.F302M |
Missense |
7/8 |
- |
1 |
X-69253358-TT-CC |
c.904_905delinsCC |
p.F302P |
Missense |
7/8 |
- |
1 |
X-69253358-TTC-CAA |
c.904_906delinsCAA |
p.F302Q |
Missense |
7/8 |
- |
1 |
X-69253358-TT-CG |
c.904_905delinsCG |
p.F302R |
Missense |
7/8 |
- |
1 |
X-69253358-TTC-GAG |
c.904_906delinsGAG |
p.F302E |
Missense |
7/8 |
- |
1 |
X-69253358-TT-GA |
c.904_905delinsGA |
p.F302D |
Missense |
7/8 |
- |
1 |
X-69253358-TT-GC |
c.904_905delinsGC |
p.F302A |
Missense |
7/8 |
- |
1 |
X-69253358-TT-GG |
c.904_905delinsGG |
p.F302G |
Missense |
7/8 |
- |
1 |
X-69253360-C-A |
c.906C>A |
p.F302L |
Missense |
7/8 |
- |
1 |
X-69253360-C-G |
c.906C>G |
p.F302L |
Missense |
7/8 |
- |
1 |
X-69253359-T-A |
c.905T>A |
p.F302Y |
Missense |
7/8 |
- |
1 |
X-69253359-T-C |
c.905T>C |
p.F302S |
Missense |
7/8 |
- |
4 |
X-69253359-TC-GG |
c.905_906delinsGG |
p.F302W |
Missense |
7/8 |
- |
1 |
X-69253359-T-G |
c.905T>G |
p.F302C |
Missense |
7/8 |
- |
3 |
X-69253361-A-C |
c.907A>C |
p.I303L |
Missense |
7/8 |
- |
1 |
X-69253361-A-G |
c.907A>G |
p.I303V |
Missense |
7/8 |
- |
1 |
X-69253361-A-T |
c.907A>T |
p.I303F |
Missense |
7/8 |
- |
1 |
X-69253361-AT-CA |
c.907_908delinsCA |
p.I303H |
Missense |
7/8 |
- |
1 |
X-69253361-AT-CC |
c.907_908delinsCC |
p.I303P |
Missense |
7/8 |
- |
1 |
X-69253361-ATC-CAA |
c.907_909delinsCAA |
p.I303Q |
Missense |
7/8 |
- |
1 |
X-69253361-ATC-GAG |
c.907_909delinsGAG |
p.I303E |
Missense |
7/8 |
- |
1 |
X-69253361-ATC-TGG |
c.907_909delinsTGG |
p.I303W |
Missense |
7/8 |
- |
1 |
X-69253361-AT-GA |
c.907_908delinsGA |
p.I303D |
Missense |
7/8 |
- |
1 |
X-69253361-AT-GC |
c.907_908delinsGC |
p.I303A |
Missense |
7/8 |
- |
1 |
X-69253361-AT-GG |
c.907_908delinsGG |
p.I303G |
Missense |
7/8 |
- |
1 |
X-69253361-AT-TA |
c.907_908delinsTA |
p.I303Y |
Missense |
7/8 |
- |
1 |
X-69253361-AT-TG |
c.907_908delinsTG |
p.I303C |
Missense |
7/8 |
- |
1 |
X-69253362-T-A |
c.908T>A |
p.I303N |
Missense |
7/8 |
- |
1 |
X-69253362-T-C |
c.908T>C |
p.I303T |
Missense |
7/8 |
- |
1 |
X-69253362-TC-AG |
c.908_909delinsAG |
p.I303K |
Missense |
7/8 |
- |
1 |
X-69253362-TC-GG |
c.908_909delinsGG |
p.I303R |
Missense |
7/8 |
- |
1 |
X-69253362-T-G |
c.908T>G |
p.I303S |
Missense |
7/8 |
- |
1 |
X-69253360-C-CATCAATA |
c.909_910insAATAATC |
p.Y304Nfs*4 |
Frameshift |
7/8 |
- |
1 |
X-69253363-C-G |
c.909C>G |
p.I303M |
Missense |
7/8 |
- |
1 |
X-69253364-T-A |
c.910T>A |
p.Y304N |
Missense |
7/8 |
- |
2 |
X-69253364-TA-AC |
c.910_911delinsAC |
p.Y304T |
Missense |
7/8 |
- |
1 |
X-69253364-TA-AT |
c.910_911delinsAT |
p.Y304I |
Missense |
7/8 |
- |
1 |
X-69253364-TA-CC |
c.910_911delinsCC |
p.Y304P |
Missense |
7/8 |
- |
1 |
X-69253364-TA-CG |
c.910_911delinsCG |
p.Y304R |
Missense |
7/8 |
- |
1 |
X-69253364-TA-CT |
c.910_911delinsCT |
p.Y304L |
Missense |
7/8 |
- |
1 |
X-69253364-TA-GC |
c.910_911delinsGC |
p.Y304A |
Missense |
7/8 |
- |
1 |
X-69253364-TA-GG |
c.910_911delinsGG |
p.Y304G |
Missense |
7/8 |
- |
1 |
X-69253364-TA-GT |
c.910_911delinsGT |
p.Y304V |
Missense |
7/8 |
- |
1 |
X-69253364-TAT-AAG |
c.910_912delinsAAG |
p.Y304K |
Missense |
7/8 |
- |
1 |
X-69253364-TAT-ATG |
c.910_912delinsATG |
p.Y304M |
Missense |
7/8 |
- |
1 |
X-69253364-TAT-CAA |
c.910_912delinsCAA |
p.Y304Q |
Missense |
7/8 |
- |
1 |
X-69253364-TAT-GAG |
c.910_912delinsGAG |
p.Y304E |
Missense |
7/8 |
- |
1 |
X-69253364-T-C |
c.910T>C |
p.Y304H |
Missense |
7/8 |
- |
3 |
X-69253364-T-G |
c.910T>G |
p.Y304D |
Missense |
7/8 |
- |
1 |
X-69253365-A-C |
c.911A>C |
p.Y304S |
Missense |
7/8 |
- |
1 |
X-69253365-A-G |
c.911A>G |
p.Y304C |
Missense |
7/8 |
- |
7 |
X-69253365-A-T |
c.911A>T |
p.Y304F |
Missense |
7/8 |
- |
1 |
X-69253365-AT-GG |
c.911_912delinsGG |
p.Y304W |
Missense |
7/8 |
- |
1 |
X-69253363-CTATAGTCAGG-C |
c.912_921del |
p.Y304* |
Frameshift |
7/8 |
- |
1 |
X-69253367-A-G |
c.913A>G |
p.S305G |
Missense |
7/8 |
- |
1 |
X-69253367-AG-CA |
c.913_914delinsCA |
p.S305H |
Missense |
7/8 |
- |
1 |
X-69253367-AG-CC |
c.913_914delinsCC |
p.S305P |
Missense |
7/8 |
- |
1 |
X-69253367-AG-CT |
c.913_914inv |
p.S305L |
Missense |
7/8 |
- |
1 |
X-69253367-AG-GA |
c.913_914delinsGA |
p.S305D |
Missense |
7/8 |
- |
1 |
X-69253367-AG-GC |
c.913_914delinsGC |
p.S305A |
Missense |
7/8 |
- |
1 |
X-69253367-AG-GT |
c.913_914delinsGT |
p.S305V |
Missense |
7/8 |
- |
1 |
X-69253367-AG-TA |
c.913_914delinsTA |
p.S305Y |
Missense |
7/8 |
- |
1 |
X-69253367-AGT-CAA |
c.913_915delinsCAA |
p.S305Q |
Missense |
7/8 |
- |
1 |
X-69253367-AGT-GAG |
c.913_915delinsGAG |
p.S305E |
Missense |
7/8 |
- |
1 |
X-69253367-AG-TT |
c.913_914delinsTT |
p.S305F |
Missense |
7/8 |
- |
1 |
X-69253367-AGT-TGG |
c.913_915delinsTGG |
p.S305W |
Missense |
7/8 |
- |
1 |
X-69253367-A-T |
c.913A>T |
p.S305C |
Missense |
7/8 |
- |
1 |
X-69253368-G-A |
c.914G>A |
p.S305N |
Missense |
7/8 |
- |
1 |
X-69253368-G-C |
c.914G>C |
p.S305T |
Missense |
7/8 |
- |
1 |
X-69253368-G-T |
c.914G>T |
p.S305I |
Missense |
7/8 |
- |
2 |
X-69253368-GT-AG |
c.914_915delinsAG |
p.S305K |
Missense |
7/8 |
- |
1 |
X-69253368-GT-TG |
c.914_915delinsTG |
p.S305M |
Missense |
7/8 |
- |
1 |
X-69253365-ATAGTCAGG-A |
c.915_922del |
p.S305Rfs*9 |
Frameshift |
7/8 |
- |
1 |
X-69253367-A-C |
c.913A>C |
p.S305R |
Missense |
7/8 |
- |
4 |
X-69253369-T-A |
c.915T>A |
p.S305R |
Missense |
7/8 |
- |
4 |
X-69253369-T-G |
c.915T>G |
p.S305R |
Missense |
7/8 |
- |
4 |
X-69253370-C-A |
c.916C>A |
p.Q306K |
Missense |
7/8 |
- |
1 |
X-69253370-CA-AC |
c.916_917delinsAC |
p.Q306T |
Missense |
7/8 |
- |
1 |
X-69253370-CA-AT |
c.916_917delinsAT |
p.Q306M |
Missense |
7/8 |
- |
1 |
X-69253370-CAG-AAC |
c.916_918delinsAAC |
p.Q306N |
Missense |
7/8 |
- |
1 |
X-69253370-CAG-ATC |
c.916_918delinsATC |
p.Q306I |
Missense |
7/8 |
- |
1 |
X-69253370-CA-GC |
c.916_917delinsGC |
p.Q306A |
Missense |
7/8 |
- |
1 |
X-69253370-CA-GG |
c.916_917delinsGG |
p.Q306G |
Missense |
7/8 |
- |
1 |
X-69253370-CAG-GAC |
c.916_918delinsGAC |
p.Q306D |
Missense |
7/8 |
- |
1 |
X-69253370-CA-GT |
c.916_917delinsGT |
p.Q306V |
Missense |
7/8 |
- |
1 |
X-69253370-CAG-TAT |
c.916_918delinsTAT |
p.Q306Y |
Missense |
7/8 |
- |
1 |
X-69253370-CAG-TGT |
c.916_918delinsTGT |
p.Q306C |
Missense |
7/8 |
- |
1 |
X-69253370-CAG-TTT |
c.916_918delinsTTT |
p.Q306F |
Missense |
7/8 |
- |
1 |
X-69253370-CA-TC |
c.916_917delinsTC |
p.Q306S |
Missense |
7/8 |
- |
1 |
X-69253370-CA-TG |
c.916_917inv |
p.Q306W |
Missense |
7/8 |
- |
1 |
X-69253370-C-G |
c.916C>G |
p.Q306E |
Missense |
7/8 |
- |
1 |
X-69253371-A-C |
c.917A>C |
p.Q306P |
Missense |
7/8 |
- |
3 |
X-69253371-A-G |
c.917A>G |
p.Q306R |
Missense |
7/8 |
- |
4 |
X-69253371-A-T |
c.917A>T |
p.Q306L |
Missense |
7/8 |
- |
1 |
X-69253372-G-C |
c.918G>C |
p.Q306H |
Missense |
7/8 |
- |
4 |
X-69253372-G-GAATAATC |
c.918_919insAATAATC |
p.V307Nfs*12 |
Frameshift |
7/8 |
- |
1 |
X-69253372-G-T |
c.918G>T |
p.Q306H |
Missense |
7/8 |
- |
4 |
X-69253373-G-A |
c.919G>A |
p.V307I |
Missense |
7/8 |
- |
1 |
X-69253374-T-G |
c.920T>G |
p.V307G |
Missense |
7/8 |
- |
3 |
X-69253376-G-A |
c.922G>A |
p.E308K |
Missense |
7/8 |
- |
1 |
X-69253377-A-G |
c.923A>G |
p.E308G |
Missense |
7/8 |
- |
1 |
X-69253378-A-AG |
c.924+1dup |
- |
SpliceDonorInsertion |
- |
7/7 |
1 |
X-69253380-T-G |
c.924+2T>G |
- |
IntronicSNV |
- |
7/7 |
1 |
X-69253385-A-G |
c.924+7A>G |
- |
IntronicSNV |
- |
7/7 |
1 |
X-69253588-T-A |
c.924+210T>A |
- |
IntronicSNV |
- |
7/7 |
1 |
X-69253588-T-C |
c.924+210T>C |
- |
IntronicSNV |
- |
7/7 |
2 |
X-69255208-G-C |
c.925G>C |
p.V309L |
Missense |
8/8 |
- |
1 |
X-69255208-G-T |
c.925G>T |
p.V309L |
Missense |
8/8 |
- |
1 |
X-69255209-T-G |
c.926T>G |
p.V309G |
Missense |
8/8 |
- |
2 |
X-69255211-T-A |
c.928T>A |
p.Y310N |
Missense |
8/8 |
- |
1 |
X-69255211-TA-AC |
c.928_929delinsAC |
p.Y310T |
Missense |
8/8 |
- |
1 |
X-69255211-TA-AT |
c.928_929delinsAT |
p.Y310I |
Missense |
8/8 |
- |
1 |
X-69255211-TAC-AAG |
c.928_930delinsAAG |
p.Y310K |
Missense |
8/8 |
- |
1 |
X-69255211-TAC-ATG |
c.928_930delinsATG |
p.Y310M |
Missense |
8/8 |
- |
1 |
X-69255211-TA-CC |
c.928_929delinsCC |
p.Y310P |
Missense |
8/8 |
- |
1 |
X-69255211-TAC-CAA |
c.928_930delinsCAA |
p.Y310Q |
Missense |
8/8 |
- |
1 |
X-69255211-TA-CG |
c.928_929delinsCG |
p.Y310R |
Missense |
8/8 |
- |
1 |
X-69255211-TAC-GAG |
c.928_930delinsGAG |
p.Y310E |
Missense |
8/8 |
- |
1 |
X-69255211-TA-CT |
c.928_929delinsCT |
p.Y310L |
Missense |
8/8 |
- |
1 |
X-69255211-TA-GC |
c.928_929delinsGC |
p.Y310A |
Missense |
8/8 |
- |
1 |
X-69255211-TA-GG |
c.928_929delinsGG |
p.Y310G |
Missense |
8/8 |
- |
1 |
X-69255211-TA-GT |
c.928_929delinsGT |
p.Y310V |
Missense |
8/8 |
- |
1 |
X-69255211-T-C |
c.928T>C |
p.Y310H |
Missense |
8/8 |
- |
1 |
X-69255211-T-G |
c.928T>G |
p.Y310D |
Missense |
8/8 |
- |
1 |
X-69255212-A-C |
c.929A>C |
p.Y310S |
Missense |
8/8 |
- |
1 |
X-69255212-AC-GG |
c.929_930delinsGG |
p.Y310W |
Missense |
8/8 |
- |
1 |
X-69255212-A-G |
c.929A>G |
p.Y310C |
Missense |
8/8 |
- |
4 |
X-69255212-A-T |
c.929A>T |
p.Y310F |
Missense |
8/8 |
- |
1 |
X-69255214-T-A |
c.931T>A |
p.Y311N |
Missense |
8/8 |
- |
1 |
X-69255214-TA-AC |
c.931_932delinsAC |
p.Y311T |
Missense |
8/8 |
- |
1 |
X-69255214-TA-AT |
c.931_932delinsAT |
p.Y311I |
Missense |
8/8 |
- |
1 |
X-69255214-TAC-AAG |
c.931_933delinsAAG |
p.Y311K |
Missense |
8/8 |
- |
1 |
X-69255214-TAC-ATG |
c.931_933delinsATG |
p.Y311M |
Missense |
8/8 |
- |
1 |
X-69255214-TA-CC |
c.931_932delinsCC |
p.Y311P |
Missense |
8/8 |
- |
1 |
X-69255214-TAC-CAA |
c.931_933delinsCAA |
p.Y311Q |
Missense |
8/8 |
- |
1 |
X-69255214-TA-CG |
c.931_932delinsCG |
p.Y311R |
Missense |
8/8 |
- |
1 |
X-69255214-TAC-GAG |
c.931_933delinsGAG |
p.Y311E |
Missense |
8/8 |
- |
1 |
X-69255214-TA-CT |
c.931_932delinsCT |
p.Y311L |
Missense |
8/8 |
- |
1 |
X-69255214-TA-GC |
c.931_932delinsGC |
p.Y311A |
Missense |
8/8 |
- |
1 |
X-69255214-TA-GG |
c.931_932delinsGG |
p.Y311G |
Missense |
8/8 |
- |
1 |
X-69255214-TA-GT |
c.931_932delinsGT |
p.Y311V |
Missense |
8/8 |
- |
1 |
X-69255214-T-C |
c.931T>C |
p.Y311H |
Missense |
8/8 |
- |
2 |
X-69255214-T-G |
c.931T>G |
p.Y311D |
Missense |
8/8 |
- |
1 |
X-69255215-A-C |
c.932A>C |
p.Y311S |
Missense |
8/8 |
- |
2 |
X-69255215-AC-GG |
c.932_933delinsGG |
p.Y311W |
Missense |
8/8 |
- |
1 |
X-69255215-A-G |
c.932A>G |
p.Y311C |
Missense |
8/8 |
- |
2 |
X-69255215-A-T |
c.932A>T |
p.Y311F |
Missense |
8/8 |
- |
1 |
X-69255217-A-C |
c.934A>C |
p.I312L |
Missense |
8/8 |
- |
1 |
X-69255217-A-G |
c.934A>G |
p.I312V |
Missense |
8/8 |
- |
2 |
X-69255217-A-T |
c.934A>T |
p.I312F |
Missense |
8/8 |
- |
2 |
X-69255217-AT-CA |
c.934_935delinsCA |
p.I312H |
Missense |
8/8 |
- |
1 |
X-69255217-AT-CC |
c.934_935delinsCC |
p.I312P |
Missense |
8/8 |
- |
1 |
X-69255217-ATC-CAA |
c.934_936delinsCAA |
p.I312Q |
Missense |
8/8 |
- |
1 |
X-69255217-ATC-GAG |
c.934_936delinsGAG |
p.I312E |
Missense |
8/8 |
- |
1 |
X-69255217-ATC-TGG |
c.934_936delinsTGG |
p.I312W |
Missense |
8/8 |
- |
1 |
X-69255217-AT-GA |
c.934_935delinsGA |
p.I312D |
Missense |
8/8 |
- |
1 |
X-69255217-AT-GC |
c.934_935delinsGC |
p.I312A |
Missense |
8/8 |
- |
1 |
X-69255217-AT-GG |
c.934_935delinsGG |
p.I312G |
Missense |
8/8 |
- |
1 |
X-69255217-AT-TA |
c.934_935delinsTA |
p.I312Y |
Missense |
8/8 |
- |
1 |
X-69255217-AT-TG |
c.934_935delinsTG |
p.I312C |
Missense |
8/8 |
- |
1 |
X-69255218-T-A |
c.935T>A |
p.I312N |
Missense |
8/8 |
- |
3 |
X-69255218-T-C |
c.935T>C |
p.I312T |
Missense |
8/8 |
- |
1 |
X-69255218-TC-AG |
c.935_936delinsAG |
p.I312K |
Missense |
8/8 |
- |
1 |
X-69255218-TC-GG |
c.935_936delinsGG |
p.I312R |
Missense |
8/8 |
- |
1 |
X-69255218-T-G |
c.935T>G |
p.I312S |
Missense |
8/8 |
- |
1 |
X-69255219-C-A |
c.936C>A |
p.I312= |
Synonymous |
8/8 |
- |
1 |
X-69255219-C-G |
c.936C>G |
p.I312M |
Missense |
8/8 |
- |
3 |
X-69255220-AA-CC |
c.937_938delinsCC |
p.N313P |
Missense |
8/8 |
- |
1 |
X-69255220-AAC-CAA |
c.937_939delinsCAA |
p.N313Q |
Missense |
8/8 |
- |
1 |
X-69255220-AAC-GAG |
c.937_939delinsGAG |
p.N313E |
Missense |
8/8 |
- |
1 |
X-69255220-AA-CT |
c.937_938delinsCT |
p.N313L |
Missense |
8/8 |
- |
1 |
X-69255220-AAC-TGG |
c.937_939delinsTGG |
p.N313W |
Missense |
8/8 |
- |
1 |
X-69255220-AA-GC |
c.937_938delinsGC |
p.N313A |
Missense |
8/8 |
- |
1 |
X-69255220-AA-GG |
c.937_938delinsGG |
p.N313G |
Missense |
8/8 |
- |
1 |
X-69255220-AA-GT |
c.937_938delinsGT |
p.N313V |
Missense |
8/8 |
- |
1 |
X-69255220-AA-TG |
c.937_938delinsTG |
p.N313C |
Missense |
8/8 |
- |
1 |
X-69255220-AA-TT |
c.937_938inv |
p.N313F |
Missense |
8/8 |
- |
1 |
X-69255220-A-C |
c.937A>C |
p.N313H |
Missense |
8/8 |
- |
1 |
X-69255220-A-G |
c.937A>G |
p.N313D |
Missense |
8/8 |
- |
1 |
X-69255220-A-T |
c.937A>T |
p.N313Y |
Missense |
8/8 |
- |
1 |
X-69255221-A-C |
c.938A>C |
p.N313T |
Missense |
8/8 |
- |
2 |
X-69255221-AC-GG |
c.938_939delinsGG |
p.N313R |
Missense |
8/8 |
- |
1 |
X-69255221-AC-TG |
c.938_939delinsTG |
p.N313M |
Missense |
8/8 |
- |
1 |
X-69255221-A-G |
c.938A>G |
p.N313S |
Missense |
8/8 |
- |
1 |
X-69255221-A-T |
c.938A>T |
p.N313I |
Missense |
8/8 |
- |
1 |
X-69255222-C-A |
c.939C>A |
p.N313K |
Missense |
8/8 |
- |
1 |
X-69255222-C-G |
c.939C>G |
p.N313K |
Missense |
8/8 |
- |
1 |
X-69255223-T-A |
c.940T>A |
p.F314I |
Missense |
8/8 |
- |
1 |
X-69255223-T-C |
c.940T>C |
p.F314L |
Missense |
8/8 |
- |
1 |
X-69255223-T-G |
c.940T>G |
p.F314V |
Missense |
8/8 |
- |
1 |
X-69255223-TT-AA |
c.940_941inv |
p.F314N |
Missense |
8/8 |
- |
1 |
X-69255223-TT-AC |
c.940_941delinsAC |
p.F314T |
Missense |
8/8 |
- |
1 |
X-69255223-TT-CA |
c.940_941delinsCA |
p.F314H |
Missense |
8/8 |
- |
1 |
X-69255223-TTC-AAG |
c.940_942delinsAAG |
p.F314K |
Missense |
8/8 |
- |
1 |
X-69255223-TTC-ATG |
c.940_942delinsATG |
p.F314M |
Missense |
8/8 |
- |
1 |
X-69255223-TT-CC |
c.940_941delinsCC |
p.F314P |
Missense |
8/8 |
- |
1 |
X-69255223-TTC-CAA |
c.940_942delinsCAA |
p.F314Q |
Missense |
8/8 |
- |
1 |
X-69255223-TT-CG |
c.940_941delinsCG |
p.F314R |
Missense |
8/8 |
- |
1 |
X-69255223-TTC-GAG |
c.940_942delinsGAG |
p.F314E |
Missense |
8/8 |
- |
1 |
X-69255223-TT-GA |
c.940_941delinsGA |
p.F314D |
Missense |
8/8 |
- |
1 |
X-69255223-TT-GC |
c.940_941delinsGC |
p.F314A |
Missense |
8/8 |
- |
1 |
X-69255223-TT-GG |
c.940_941delinsGG |
p.F314G |
Missense |
8/8 |
- |
1 |
X-69255225-C-A |
c.942C>A |
p.F314L |
Missense |
8/8 |
- |
1 |
X-69255225-C-G |
c.942C>G |
p.F314L |
Missense |
8/8 |
- |
1 |
X-69255224-T-A |
c.941T>A |
p.F314Y |
Missense |
8/8 |
- |
1 |
X-69255224-T-C |
c.941T>C |
p.F314S |
Missense |
8/8 |
- |
1 |
X-69255224-TC-GG |
c.941_942delinsGG |
p.F314W |
Missense |
8/8 |
- |
1 |
X-69255224-T-G |
c.941T>G |
p.F314C |
Missense |
8/8 |
- |
1 |
X-69255226-A-C |
c.943A>C |
p.T315P |
Missense |
8/8 |
- |
1 |
X-69255226-AC-CA |
c.943_944delinsCA |
p.T315H |
Missense |
8/8 |
- |
1 |
X-69255226-AC-CT |
c.943_944delinsCT |
p.T315L |
Missense |
8/8 |
- |
1 |
X-69255226-AC-GA |
c.943_944delinsGA |
p.T315D |
Missense |
8/8 |
- |
1 |
X-69255226-AC-GG |
c.943_944delinsGG |
p.T315G |
Missense |
8/8 |
- |
1 |
X-69255226-AC-GT |
c.943_944inv |
p.T315V |
Missense |
8/8 |
- |
1 |
X-69255226-AC-TA |
c.943_944delinsTA |
p.T315Y |
Missense |
8/8 |
- |
1 |
X-69255226-ACT-CAA |
c.943_945delinsCAA |
p.T315Q |
Missense |
8/8 |
- |
1 |
X-69255226-AC-TG |
c.943_944delinsTG |
p.T315C |
Missense |
8/8 |
- |
1 |
X-69255226-ACT-GAG |
c.943_945delinsGAG |
p.T315E |
Missense |
8/8 |
- |
1 |
X-69255226-AC-TT |
c.943_944delinsTT |
p.T315F |
Missense |
8/8 |
- |
1 |
X-69255226-ACT-TGG |
c.943_945delinsTGG |
p.T315W |
Missense |
8/8 |
- |
1 |
X-69255226-A-G |
c.943A>G |
p.T315A |
Missense |
8/8 |
- |
1 |
X-69255226-A-T |
c.943A>T |
p.T315S |
Missense |
8/8 |
- |
1 |
X-69255227-C-A |
c.944C>A |
p.T315N |
Missense |
8/8 |
- |
1 |
X-69255227-C-G |
c.944C>G |
p.T315S |
Missense |
8/8 |
- |
1 |
X-69255227-C-T |
c.944C>T |
p.T315I |
Missense |
8/8 |
- |
2 |
X-69255227-CT-AG |
c.944_945inv |
p.T315K |
Missense |
8/8 |
- |
1 |
X-69255227-CT-GG |
c.944_945delinsGG |
p.T315R |
Missense |
8/8 |
- |
1 |
X-69255227-CT-TG |
c.944_945delinsTG |
p.T315M |
Missense |
8/8 |
- |
1 |
X-69255229-G-A |
c.946G>A |
p.D316N |
Missense |
8/8 |
- |
2 |
X-69255229-GA-AC |
c.946_947delinsAC |
p.D316T |
Missense |
8/8 |
- |
1 |
X-69255229-GA-AG |
c.946_947delinsAG |
p.D316S |
Missense |
8/8 |
- |
1 |
X-69255229-GA-AT |
c.946_947delinsAT |
p.D316I |
Missense |
8/8 |
- |
1 |
X-69255229-GAC-AAG |
c.946_948delinsAAG |
p.D316K |
Missense |
8/8 |
- |
1 |
X-69255229-GAC-ATG |
c.946_948delinsATG |
p.D316M |
Missense |
8/8 |
- |
1 |
X-69255229-GA-CC |
c.946_947delinsCC |
p.D316P |
Missense |
8/8 |
- |
1 |
X-69255229-GAC-CAA |
c.946_948delinsCAA |
p.D316Q |
Missense |
8/8 |
- |
1 |
X-69255229-GA-CG |
c.946_947delinsCG |
p.D316R |
Missense |
8/8 |
- |
1 |
X-69255229-GA-CT |
c.946_947delinsCT |
p.D316L |
Missense |
8/8 |
- |
1 |
X-69255229-GAC-TGG |
c.946_948delinsTGG |
p.D316W |
Missense |
8/8 |
- |
1 |
X-69255229-GA-TG |
c.946_947delinsTG |
p.D316C |
Missense |
8/8 |
- |
1 |
X-69255229-GA-TT |
c.946_947delinsTT |
p.D316F |
Missense |
8/8 |
- |
1 |
X-69255229-G-C |
c.946G>C |
p.D316H |
Missense |
8/8 |
- |
1 |
X-69255229-G-T |
c.946G>T |
p.D316Y |
Missense |
8/8 |
- |
1 |
X-69255230-A-C |
c.947A>C |
p.D316A |
Missense |
8/8 |
- |
1 |
X-69255230-A-G |
c.947A>G |
p.D316G |
Missense |
8/8 |
- |
7 |
X-69255230-A-T |
c.947A>T |
p.D316V |
Missense |
8/8 |
- |
1 |
X-69255231-C-A |
c.948C>A |
p.D316E |
Missense |
8/8 |
- |
3 |
X-69255231-C-G |
c.948C>G |
p.D316E |
Missense |
8/8 |
- |
3 |
X-69255232-T-A |
c.949T>A |
p.F317I |
Missense |
8/8 |
- |
1 |
X-69255232-T-C |
c.949T>C |
p.F317L |
Missense |
8/8 |
- |
1 |
X-69255232-T-G |
c.949T>G |
p.F317V |
Missense |
8/8 |
- |
1 |
X-69255232-TT-AA |
c.949_950inv |
p.F317N |
Missense |
8/8 |
- |
1 |
X-69255232-TT-AC |
c.949_950delinsAC |
p.F317T |
Missense |
8/8 |
- |
1 |
X-69255232-TT-CA |
c.949_950delinsCA |
p.F317H |
Missense |
8/8 |
- |
1 |
X-69255232-TT-CC |
c.949_950delinsCC |
p.F317P |
Missense |
8/8 |
- |
1 |
X-69255232-TT-CG |
c.949_950delinsCG |
p.F317R |
Missense |
8/8 |
- |
1 |
X-69255232-TT-GA |
c.949_950delinsGA |
p.F317D |
Missense |
8/8 |
- |
1 |
X-69255232-TT-GC |
c.949_950delinsGC |
p.F317A |
Missense |
8/8 |
- |
1 |
X-69255232-TT-GG |
c.949_950delinsGG |
p.F317G |
Missense |
8/8 |
- |
1 |
X-69255232-TTT-AAG |
c.949_951delinsAAG |
p.F317K |
Missense |
8/8 |
- |
1 |
X-69255232-TTT-ATG |
c.949_951delinsATG |
p.F317M |
Missense |
8/8 |
- |
1 |
X-69255232-TTT-CAA |
c.949_951delinsCAA |
p.F317Q |
Missense |
8/8 |
- |
1 |
X-69255232-TTT-GAG |
c.949_951delinsGAG |
p.F317E |
Missense |
8/8 |
- |
1 |
X-69255234-T-A |
c.951T>A |
p.F317L |
Missense |
8/8 |
- |
1 |
X-69255234-T-G |
c.951T>G |
p.F317L |
Missense |
8/8 |
- |
1 |
X-69255233-T-A |
c.950T>A |
p.F317Y |
Missense |
8/8 |
- |
1 |
X-69255233-T-C |
c.950T>C |
p.F317S |
Missense |
8/8 |
- |
1 |
X-69255233-T-G |
c.950T>G |
p.F317C |
Missense |
8/8 |
- |
1 |
X-69255233-TT-GG |
c.950_951delinsGG |
p.F317W |
Missense |
8/8 |
- |
1 |
X-69255235-G-A |
c.952G>A |
p.A318T |
Missense |
8/8 |
- |
1 |
X-69255235-G-C |
c.952G>C |
p.A318P |
Missense |
8/8 |
- |
1 |
X-69255235-GC-AA |
c.952_953delinsAA |
p.A318N |
Missense |
8/8 |
- |
1 |
X-69255235-GC-AT |
c.952_953delinsAT |
p.A318I |
Missense |
8/8 |
- |
1 |
X-69255235-GC-CA |
c.952_953delinsCA |
p.A318H |
Missense |
8/8 |
- |
1 |
X-69255235-GCC-AAG |
c.952_954delinsAAG |
p.A318K |
Missense |
8/8 |
- |
1 |
X-69255235-GCC-ATG |
c.952_954delinsATG |
p.A318M |
Missense |
8/8 |
- |
1 |
X-69255235-GCC-CAA |
c.952_954delinsCAA |
p.A318Q |
Missense |
8/8 |
- |
1 |
X-69255235-GC-CG |
c.952_953delinsCG |
p.A318R |
Missense |
8/8 |
- |
1 |
X-69255235-GC-CT |
c.952_953delinsCT |
p.A318L |
Missense |
8/8 |
- |
1 |
X-69255235-GCC-TGG |
c.952_954delinsTGG |
p.A318W |
Missense |
8/8 |
- |
1 |
X-69255235-GC-TA |
c.952_953delinsTA |
p.A318Y |
Missense |
8/8 |
- |
1 |
X-69255235-GC-TG |
c.952_953delinsTG |
p.A318C |
Missense |
8/8 |
- |
1 |
X-69255235-GC-TT |
c.952_953delinsTT |
p.A318F |
Missense |
8/8 |
- |
1 |
X-69255235-G-T |
c.952G>T |
p.A318S |
Missense |
8/8 |
- |
1 |
X-69255235-TG-T |
c.952del |
p.A318Pfs*56 |
Frameshift |
8/8 |
- |
1 |
X-69255236-C-A |
c.953C>A |
p.A318D |
Missense |
8/8 |
- |
1 |
X-69255236-CC-AG |
c.953_954delinsAG |
p.A318E |
Missense |
8/8 |
- |
1 |
X-69255236-C-G |
c.953C>G |
p.A318G |
Missense |
8/8 |
- |
1 |
X-69255236-C-T |
c.953C>T |
p.A318V |
Missense |
8/8 |
- |
1 |
X-69255235-GC-G |
c.954del |
p.S319Afs*55 |
Frameshift |
8/8 |
- |
1 |
X-69255238-A-G |
c.955A>G |
p.S319G |
Missense |
8/8 |
- |
1 |
X-69255238-AG-CA |
c.955_956delinsCA |
p.S319H |
Missense |
8/8 |
- |
1 |
X-69255238-AG-CC |
c.955_956delinsCC |
p.S319P |
Missense |
8/8 |
- |
1 |
X-69255238-AGC-CAA |
c.955_957delinsCAA |
p.S319Q |
Missense |
8/8 |
- |
1 |
X-69255238-AGC-GAG |
c.955_957delinsGAG |
p.S319E |
Missense |
8/8 |
- |
1 |
X-69255238-AG-CT |
c.955_956inv |
p.S319L |
Missense |
8/8 |
- |
1 |
X-69255238-AGC-TGG |
c.955_957delinsTGG |
p.S319W |
Missense |
8/8 |
- |
1 |
X-69255238-AG-GA |
c.955_956delinsGA |
p.S319D |
Missense |
8/8 |
- |
1 |
X-69255238-AG-GC |
c.955_956delinsGC |
p.S319A |
Missense |
8/8 |
- |
1 |
X-69255238-AG-GT |
c.955_956delinsGT |
p.S319V |
Missense |
8/8 |
- |
1 |
X-69255238-AG-TA |
c.955_956delinsTA |
p.S319Y |
Missense |
8/8 |
- |
1 |
X-69255238-AG-TT |
c.955_956delinsTT |
p.S319F |
Missense |
8/8 |
- |
1 |
X-69255238-A-T |
c.955A>T |
p.S319C |
Missense |
8/8 |
- |
1 |
X-69255239-G-A |
c.956G>A |
p.S319N |
Missense |
8/8 |
- |
1 |
X-69255239-G-C |
c.956G>C |
p.S319T |
Missense |
8/8 |
- |
1 |
X-69255239-GC-AG |
c.956_957delinsAG |
p.S319K |
Missense |
8/8 |
- |
1 |
X-69255239-GC-TG |
c.956_957delinsTG |
p.S319M |
Missense |
8/8 |
- |
1 |
X-69255239-G-T |
c.956G>T |
p.S319I |
Missense |
8/8 |
- |
3 |
X-69255238-A-C |
c.955A>C |
p.S319R |
Missense |
8/8 |
- |
3 |
X-69255240-C-A |
c.957C>A |
p.S319R |
Missense |
8/8 |
- |
3 |
X-69255240-C-G |
c.957C>G |
p.S319R |
Missense |
8/8 |
- |
4 |
X-69255236-CCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACG-C |
c.958_1005del |
p.Y320_S335del |
InFrameDeletion |
8/8 |
- |
1 |
X-69255241-T-A |
c.958T>A |
p.Y320N |
Missense |
8/8 |
- |
1 |
X-69255241-TA-AC |
c.958_959delinsAC |
p.Y320T |
Missense |
8/8 |
- |
1 |
X-69255241-TA-AT |
c.958_959delinsAT |
p.Y320I |
Missense |
8/8 |
- |
1 |
X-69255241-TA-CC |
c.958_959delinsCC |
p.Y320P |
Missense |
8/8 |
- |
1 |
X-69255241-TA-CG |
c.958_959delinsCG |
p.Y320R |
Missense |
8/8 |
- |
1 |
X-69255241-TA-CT |
c.958_959delinsCT |
p.Y320L |
Missense |
8/8 |
- |
1 |
X-69255241-TA-GC |
c.958_959delinsGC |
p.Y320A |
Missense |
8/8 |
- |
1 |
X-69255241-TA-GG |
c.958_959delinsGG |
p.Y320G |
Missense |
8/8 |
- |
1 |
X-69255241-TA-GT |
c.958_959delinsGT |
p.Y320V |
Missense |
8/8 |
- |
1 |
X-69255241-TAT-AAG |
c.958_960delinsAAG |
p.Y320K |
Missense |
8/8 |
- |
1 |
X-69255241-TAT-ATG |
c.958_960delinsATG |
p.Y320M |
Missense |
8/8 |
- |
1 |
X-69255241-TAT-CAA |
c.958_960delinsCAA |
p.Y320Q |
Missense |
8/8 |
- |
1 |
X-69255241-TAT-GAG |
c.958_960delinsGAG |
p.Y320E |
Missense |
8/8 |
- |
1 |
X-69255241-T-C |
c.958T>C |
p.Y320H |
Missense |
8/8 |
- |
1 |
X-69255241-T-G |
c.958T>G |
p.Y320D |
Missense |
8/8 |
- |
1 |
X-69255242-A-C |
c.959A>C |
p.Y320S |
Missense |
8/8 |
- |
1 |
X-69255242-A-G |
c.959A>G |
p.Y320C |
Missense |
8/8 |
- |
4 |
X-69255242-A-T |
c.959A>T |
p.Y320F |
Missense |
8/8 |
- |
1 |
X-69255242-AT-GG |
c.959_960delinsGG |
p.Y320W |
Missense |
8/8 |
- |
1 |
X-69255243-T-C |
c.960T>C |
p.Y320= |
Synonymous |
8/8 |
- |
2 |
X-69255244-G-A |
c.961G>A |
p.E321K |
Missense |
8/8 |
- |
2 |
X-69255244-GA-AC |
c.961_962delinsAC |
p.E321T |
Missense |
8/8 |
- |
1 |
X-69255244-GA-AG |
c.961_962delinsAG |
p.E321R |
Missense |
8/8 |
- |
1 |
X-69255244-GA-AT |
c.961_962delinsAT |
p.E321M |
Missense |
8/8 |
- |
1 |
X-69255244-GA-CC |
c.961_962delinsCC |
p.E321P |
Missense |
8/8 |
- |
1 |
X-69255244-GA-CT |
c.961_962delinsCT |
p.E321L |
Missense |
8/8 |
- |
1 |
X-69255244-GAG-AAC |
c.961_963delinsAAC |
p.E321N |
Missense |
8/8 |
- |
1 |
X-69255244-GAG-ATC |
c.961_963delinsATC |
p.E321I |
Missense |
8/8 |
- |
1 |
X-69255244-GAG-CAT |
c.961_963delinsCAT |
p.E321H |
Missense |
8/8 |
- |
1 |
X-69255244-GAG-TAT |
c.961_963delinsTAT |
p.E321Y |
Missense |
8/8 |
- |
1 |
X-69255244-GAG-TGT |
c.961_963delinsTGT |
p.E321C |
Missense |
8/8 |
- |
1 |
X-69255244-GAG-TTT |
c.961_963delinsTTT |
p.E321F |
Missense |
8/8 |
- |
1 |
X-69255244-GA-TC |
c.961_962inv |
p.E321S |
Missense |
8/8 |
- |
1 |
X-69255244-GA-TG |
c.961_962delinsTG |
p.E321W |
Missense |
8/8 |
- |
1 |
X-69255244-G-C |
c.961G>C |
p.E321Q |
Missense |
8/8 |
- |
1 |
X-69255245-A-C |
c.962A>C |
p.E321A |
Missense |
8/8 |
- |
1 |
X-69255245-A-G |
c.962A>G |
p.E321G |
Missense |
8/8 |
- |
1 |
X-69255245-A-T |
c.962A>T |
p.E321V |
Missense |
8/8 |
- |
1 |
X-69255246-G-C |
c.963G>C |
p.E321D |
Missense |
8/8 |
- |
1 |
X-69255246-G-T |
c.963G>T |
p.E321D |
Missense |
8/8 |
- |
1 |
X-69255247-G-A |
c.964G>A |
p.V322M |
Missense |
8/8 |
- |
1 |
X-69255247-G-C |
c.964G>C |
p.V322L |
Missense |
8/8 |
- |
1 |
X-69255247-G-T |
c.964G>T |
p.V322L |
Missense |
8/8 |
- |
1 |
X-69255247-GT-AA |
c.964_965delinsAA |
p.V322K |
Missense |
8/8 |
- |
1 |
X-69255247-GT-AC |
c.964_965inv |
p.V322T |
Missense |
8/8 |
- |
1 |
X-69255247-GT-AG |
c.964_965delinsAG |
p.V322R |
Missense |
8/8 |
- |
1 |
X-69255247-GT-CA |
c.964_965delinsCA |
p.V322Q |
Missense |
8/8 |
- |
1 |
X-69255247-GT-CC |
c.964_965delinsCC |
p.V322P |
Missense |
8/8 |
- |
1 |
X-69255247-GTG-AAC |
c.964_966delinsAAC |
p.V322N |
Missense |
8/8 |
- |
1 |
X-69255247-GTG-ATC |
c.964_966delinsATC |
p.V322I |
Missense |
8/8 |
- |
1 |
X-69255247-GTG-CAT |
c.964_966delinsCAT |
p.V322H |
Missense |
8/8 |
- |
1 |
X-69255247-GTG-TAT |
c.964_966delinsTAT |
p.V322Y |
Missense |
8/8 |
- |
1 |
X-69255247-GTG-TGT |
c.964_966delinsTGT |
p.V322C |
Missense |
8/8 |
- |
1 |
X-69255247-GTG-TTT |
c.964_966delinsTTT |
p.V322F |
Missense |
8/8 |
- |
1 |
X-69255247-GT-TC |
c.964_965delinsTC |
p.V322S |
Missense |
8/8 |
- |
1 |
X-69255247-GT-TG |
c.964_965delinsTG |
p.V322W |
Missense |
8/8 |
- |
1 |
X-69255248-T-A |
c.965T>A |
p.V322E |
Missense |
8/8 |
- |
1 |
X-69255248-T-C |
c.965T>C |
p.V322A |
Missense |
8/8 |
- |
1 |
X-69255248-T-G |
c.965T>G |
p.V322G |
Missense |
8/8 |
- |
1 |
X-69255248-TG-AC |
c.965_966delinsAC |
p.V322D |
Missense |
8/8 |
- |
1 |
X-69255250-G-A |
c.967G>A |
p.V323M |
Missense |
8/8 |
- |
1 |
X-69255250-G-C |
c.967G>C |
p.V323L |
Missense |
8/8 |
- |
1 |
X-69255250-G-T |
c.967G>T |
p.V323L |
Missense |
8/8 |
- |
1 |
X-69255250-GT-AA |
c.967_968delinsAA |
p.V323K |
Missense |
8/8 |
- |
1 |
X-69255250-GT-AC |
c.967_968inv |
p.V323T |
Missense |
8/8 |
- |
1 |
X-69255250-GT-AG |
c.967_968delinsAG |
p.V323R |
Missense |
8/8 |
- |
1 |
X-69255250-GT-CA |
c.967_968delinsCA |
p.V323Q |
Missense |
8/8 |
- |
1 |
X-69255250-GT-CC |
c.967_968delinsCC |
p.V323P |
Missense |
8/8 |
- |
1 |
X-69255250-GTG-AAC |
c.967_969delinsAAC |
p.V323N |
Missense |
8/8 |
- |
1 |
X-69255250-GTG-ATC |
c.967_969delinsATC |
p.V323I |
Missense |
8/8 |
- |
1 |
X-69255250-GTG-CAT |
c.967_969delinsCAT |
p.V323H |
Missense |
8/8 |
- |
1 |
X-69255250-GTG-TAT |
c.967_969delinsTAT |
p.V323Y |
Missense |
8/8 |
- |
1 |
X-69255250-GTG-TGT |
c.967_969delinsTGT |
p.V323C |
Missense |
8/8 |
- |
1 |
X-69255250-GTG-TTT |
c.967_969delinsTTT |
p.V323F |
Missense |
8/8 |
- |
1 |
X-69255250-GT-TC |
c.967_968delinsTC |
p.V323S |
Missense |
8/8 |
- |
1 |
X-69255250-GT-TG |
c.967_968delinsTG |
p.V323W |
Missense |
8/8 |
- |
1 |
X-69255251-T-A |
c.968T>A |
p.V323E |
Missense |
8/8 |
- |
1 |
X-69255251-T-C |
c.968T>C |
p.V323A |
Missense |
8/8 |
- |
1 |
X-69255251-T-G |
c.968T>G |
p.V323G |
Missense |
8/8 |
- |
3 |
X-69255251-TG-AC |
c.968_969delinsAC |
p.V323D |
Missense |
8/8 |
- |
1 |
X-69255253-G-A |
c.970G>A |
p.V324M |
Missense |
8/8 |
- |
2 |
X-69255253-G-C |
c.970G>C |
p.V324L |
Missense |
8/8 |
- |
1 |
X-69255253-G-T |
c.970G>T |
p.V324L |
Missense |
8/8 |
- |
1 |
X-69255253-GT-AA |
c.970_971delinsAA |
p.V324K |
Missense |
8/8 |
- |
1 |
X-69255253-GT-AC |
c.970_971inv |
p.V324T |
Missense |
8/8 |
- |
1 |
X-69255253-GT-AG |
c.970_971delinsAG |
p.V324R |
Missense |
8/8 |
- |
1 |
X-69255253-GT-CA |
c.970_971delinsCA |
p.V324Q |
Missense |
8/8 |
- |
1 |
X-69255253-GT-CC |
c.970_971delinsCC |
p.V324P |
Missense |
8/8 |
- |
1 |
X-69255253-GTG-AAC |
c.970_972delinsAAC |
p.V324N |
Missense |
8/8 |
- |
1 |
X-69255253-GTG-ATC |
c.970_972delinsATC |
p.V324I |
Missense |
8/8 |
- |
1 |
X-69255253-GTG-CAT |
c.970_972delinsCAT |
p.V324H |
Missense |
8/8 |
- |
1 |
X-69255253-GTG-TAT |
c.970_972delinsTAT |
p.V324Y |
Missense |
8/8 |
- |
1 |
X-69255253-GTG-TGT |
c.970_972delinsTGT |
p.V324C |
Missense |
8/8 |
- |
1 |
X-69255253-GTG-TTT |
c.970_972delinsTTT |
p.V324F |
Missense |
8/8 |
- |
1 |
X-69255253-GT-TC |
c.970_971delinsTC |
p.V324S |
Missense |
8/8 |
- |
1 |
X-69255253-GT-TG |
c.970_971delinsTG |
p.V324W |
Missense |
8/8 |
- |
1 |
X-69255254-T-A |
c.971T>A |
p.V324E |
Missense |
8/8 |
- |
2 |
X-69255254-T-C |
c.971T>C |
p.V324A |
Missense |
8/8 |
- |
3 |
X-69255254-T-G |
c.971T>G |
p.V324G |
Missense |
8/8 |
- |
1 |
X-69255254-TG-AC |
c.971_972delinsAC |
p.V324D |
Missense |
8/8 |
- |
1 |
X-69255255-G-A |
c.972G>A |
p.V324= |
Synonymous |
8/8 |
- |
2 |
X-69255256-G-A |
c.973G>A |
p.D325N |
Missense |
8/8 |
- |
1 |
X-69255256-GA-AC |
c.973_974delinsAC |
p.D325T |
Missense |
8/8 |
- |
1 |
X-69255256-GA-AG |
c.973_974delinsAG |
p.D325S |
Missense |
8/8 |
- |
1 |
X-69255256-GA-AT |
c.973_974delinsAT |
p.D325I |
Missense |
8/8 |
- |
1 |
X-69255256-GA-CC |
c.973_974delinsCC |
p.D325P |
Missense |
8/8 |
- |
1 |
X-69255256-GA-CG |
c.973_974delinsCG |
p.D325R |
Missense |
8/8 |
- |
1 |
X-69255256-GA-CT |
c.973_974delinsCT |
p.D325L |
Missense |
8/8 |
- |
1 |
X-69255256-GAT-AAG |
c.973_975delinsAAG |
p.D325K |
Missense |
8/8 |
- |
1 |
X-69255256-GAT-ATG |
c.973_975delinsATG |
p.D325M |
Missense |
8/8 |
- |
1 |
X-69255256-GAT-CAA |
c.973_975delinsCAA |
p.D325Q |
Missense |
8/8 |
- |
1 |
X-69255256-GA-TG |
c.973_974delinsTG |
p.D325C |
Missense |
8/8 |
- |
1 |
X-69255256-GA-TT |
c.973_974delinsTT |
p.D325F |
Missense |
8/8 |
- |
1 |
X-69255256-GAT-TGG |
c.973_975delinsTGG |
p.D325W |
Missense |
8/8 |
- |
1 |
X-69255256-G-C |
c.973G>C |
p.D325H |
Missense |
8/8 |
- |
1 |
X-69255256-G-T |
c.973G>T |
p.D325Y |
Missense |
8/8 |
- |
1 |
X-69255257-A-C |
c.974A>C |
p.D325A |
Missense |
8/8 |
- |
1 |
X-69255257-A-G |
c.974A>G |
p.D325G |
Missense |
8/8 |
- |
1 |
X-69255257-A-T |
c.974A>T |
p.D325V |
Missense |
8/8 |
- |
1 |
X-69255258-T-A |
c.975T>A |
p.D325E |
Missense |
8/8 |
- |
1 |
X-69255258-T-G |
c.975T>G |
p.D325E |
Missense |
8/8 |
- |
1 |
X-69255259-G-A |
c.976G>A |
p.E326K |
Missense |
8/8 |
- |
3 |
X-69255259-GA-AC |
c.976_977delinsAC |
p.E326T |
Missense |
8/8 |
- |
1 |
X-69255259-GA-AG |
c.976_977delinsAG |
p.E326R |
Missense |
8/8 |
- |
1 |
X-69255259-GA-AT |
c.976_977delinsAT |
p.E326M |
Missense |
8/8 |
- |
1 |
X-69255259-GA-CC |
c.976_977delinsCC |
p.E326P |
Missense |
8/8 |
- |
1 |
X-69255259-GA-CT |
c.976_977delinsCT |
p.E326L |
Missense |
8/8 |
- |
1 |
X-69255259-GAG-AAC |
c.976_978delinsAAC |
p.E326N |
Missense |
8/8 |
- |
1 |
X-69255259-GAG-ATC |
c.976_978delinsATC |
p.E326I |
Missense |
8/8 |
- |
1 |
X-69255259-GAG-CAT |
c.976_978delinsCAT |
p.E326H |
Missense |
8/8 |
- |
1 |
X-69255259-GAG-TAT |
c.976_978delinsTAT |
p.E326Y |
Missense |
8/8 |
- |
1 |
X-69255259-GAG-TGT |
c.976_978delinsTGT |
p.E326C |
Missense |
8/8 |
- |
1 |
X-69255259-GAG-TTT |
c.976_978delinsTTT |
p.E326F |
Missense |
8/8 |
- |
1 |
X-69255259-GA-TC |
c.976_977inv |
p.E326S |
Missense |
8/8 |
- |
1 |
X-69255259-GA-TG |
c.976_977delinsTG |
p.E326W |
Missense |
8/8 |
- |
1 |
X-69255259-G-C |
c.976G>C |
p.E326Q |
Missense |
8/8 |
- |
1 |
X-69255260-A-C |
c.977A>C |
p.E326A |
Missense |
8/8 |
- |
1 |
X-69255260-A-G |
c.977A>G |
p.E326G |
Missense |
8/8 |
- |
1 |
X-69255260-A-T |
c.977A>T |
p.E326V |
Missense |
8/8 |
- |
1 |
X-69255261-G-A |
c.978G>A |
p.E326= |
Synonymous |
8/8 |
- |
3 |
X-69255261-G-C |
c.978G>C |
p.E326D |
Missense |
8/8 |
- |
2 |
X-69255261-G-T |
c.978G>T |
p.E326D |
Missense |
8/8 |
- |
2 |
X-69255262-AA-CC |
c.979_980delinsCC |
p.K327P |
Missense |
8/8 |
- |
1 |
X-69255262-AA-CT |
c.979_980delinsCT |
p.K327L |
Missense |
8/8 |
- |
1 |
X-69255262-AA-GC |
c.979_980delinsGC |
p.K327A |
Missense |
8/8 |
- |
1 |
X-69255262-AAG-CAT |
c.979_981delinsCAT |
p.K327H |
Missense |
8/8 |
- |
1 |
X-69255262-AA-GG |
c.979_980delinsGG |
p.K327G |
Missense |
8/8 |
- |
1 |
X-69255262-AAG-GAC |
c.979_981delinsGAC |
p.K327D |
Missense |
8/8 |
- |
1 |
X-69255262-AA-GT |
c.979_980delinsGT |
p.K327V |
Missense |
8/8 |
- |
1 |
X-69255262-AAG-TAT |
c.979_981delinsTAT |
p.K327Y |
Missense |
8/8 |
- |
1 |
X-69255262-AAG-TGT |
c.979_981delinsTGT |
p.K327C |
Missense |
8/8 |
- |
1 |
X-69255262-AAG-TTT |
c.979_981delinsTTT |
p.K327F |
Missense |
8/8 |
- |
1 |
X-69255262-AA-TG |
c.979_980delinsTG |
p.K327W |
Missense |
8/8 |
- |
1 |
X-69255262-A-C |
c.979A>C |
p.K327Q |
Missense |
8/8 |
- |
1 |
X-69255262-A-G |
c.979A>G |
p.K327E |
Missense |
8/8 |
- |
1 |
X-69255263-A-C |
c.980A>C |
p.K327T |
Missense |
8/8 |
- |
1 |
X-69255263-A-G |
c.980A>G |
p.K327R |
Missense |
8/8 |
- |
1 |
X-69255263-AG-GC |
c.980_981delinsGC |
p.K327S |
Missense |
8/8 |
- |
1 |
X-69255263-AG-TC |
c.980_981delinsTC |
p.K327I |
Missense |
8/8 |
- |
1 |
X-69255263-A-T |
c.980A>T |
p.K327M |
Missense |
8/8 |
- |
1 |
X-69255264-G-C |
c.981G>C |
p.K327N |
Missense |
8/8 |
- |
1 |
X-69255264-G-T |
c.981G>T |
p.K327N |
Missense |
8/8 |
- |
1 |
X-69255265-C-A |
c.982C>A |
p.P328T |
Missense |
8/8 |
- |
1 |
X-69255265-CC-AA |
c.982_983delinsAA |
p.P328N |
Missense |
8/8 |
- |
1 |
X-69255265-CC-AT |
c.982_983delinsAT |
p.P328I |
Missense |
8/8 |
- |
1 |
X-69255265-CCC-AAG |
c.982_984delinsAAG |
p.P328K |
Missense |
8/8 |
- |
1 |
X-69255265-CCC-ATG |
c.982_984delinsATG |
p.P328M |
Missense |
8/8 |
- |
1 |
X-69255265-CCC-GAG |
c.982_984delinsGAG |
p.P328E |
Missense |
8/8 |
- |
1 |
X-69255265-CCC-TGG |
c.982_984delinsTGG |
p.P328W |
Missense |
8/8 |
- |
1 |
X-69255265-CC-GA |
c.982_983delinsGA |
p.P328D |
Missense |
8/8 |
- |
1 |
X-69255265-CC-GG |
c.982_983inv |
p.P328G |
Missense |
8/8 |
- |
1 |
X-69255265-CC-GT |
c.982_983delinsGT |
p.P328V |
Missense |
8/8 |
- |
1 |
X-69255265-CC-TA |
c.982_983delinsTA |
p.P328Y |
Missense |
8/8 |
- |
1 |
X-69255265-CC-TG |
c.982_983delinsTG |
p.P328C |
Missense |
8/8 |
- |
1 |
X-69255265-CC-TT |
c.982_983delinsTT |
p.P328F |
Missense |
8/8 |
- |
1 |
X-69255265-C-G |
c.982C>G |
p.P328A |
Missense |
8/8 |
- |
1 |
X-69255265-C-T |
c.982C>T |
p.P328S |
Missense |
8/8 |
- |
1 |
X-69255266-C-A |
c.983C>A |
p.P328H |
Missense |
8/8 |
- |
1 |
X-69255266-CC-AA |
c.983_984delinsAA |
p.P328Q |
Missense |
8/8 |
- |
1 |
X-69255266-C-G |
c.983C>G |
p.P328R |
Missense |
8/8 |
- |
1 |
X-69255266-C-T |
c.983C>T |
p.P328L |
Missense |
8/8 |
- |
1 |
X-69255268-T-A |
c.985T>A |
p.F329I |
Missense |
8/8 |
- |
1 |
X-69255268-T-C |
c.985T>C |
p.F329L |
Missense |
8/8 |
- |
1 |
X-69255268-T-G |
c.985T>G |
p.F329V |
Missense |
8/8 |
- |
1 |
X-69255268-TT-AA |
c.985_986inv |
p.F329N |
Missense |
8/8 |
- |
1 |
X-69255268-TT-AC |
c.985_986delinsAC |
p.F329T |
Missense |
8/8 |
- |
1 |
X-69255268-TT-CA |
c.985_986delinsCA |
p.F329H |
Missense |
8/8 |
- |
1 |
X-69255268-TTC-AAG |
c.985_987delinsAAG |
p.F329K |
Missense |
8/8 |
- |
1 |
X-69255268-TTC-ATG |
c.985_987delinsATG |
p.F329M |
Missense |
8/8 |
- |
1 |
X-69255268-TT-CC |
c.985_986delinsCC |
p.F329P |
Missense |
8/8 |
- |
1 |
X-69255268-TTC-CAA |
c.985_987delinsCAA |
p.F329Q |
Missense |
8/8 |
- |
1 |
X-69255268-TT-CG |
c.985_986delinsCG |
p.F329R |
Missense |
8/8 |
- |
1 |
X-69255268-TTC-GAG |
c.985_987delinsGAG |
p.F329E |
Missense |
8/8 |
- |
1 |
X-69255268-TT-GA |
c.985_986delinsGA |
p.F329D |
Missense |
8/8 |
- |
1 |
X-69255268-TT-GC |
c.985_986delinsGC |
p.F329A |
Missense |
8/8 |
- |
1 |
X-69255268-TT-GG |
c.985_986delinsGG |
p.F329G |
Missense |
8/8 |
- |
1 |
X-69255270-C-A |
c.987C>A |
p.F329L |
Missense |
8/8 |
- |
1 |
X-69255270-C-G |
c.987C>G |
p.F329L |
Missense |
8/8 |
- |
1 |
X-69255269-T-A |
c.986T>A |
p.F329Y |
Missense |
8/8 |
- |
1 |
X-69255269-T-C |
c.986T>C |
p.F329S |
Missense |
8/8 |
- |
1 |
X-69255269-TC-GG |
c.986_987delinsGG |
p.F329W |
Missense |
8/8 |
- |
1 |
X-69255269-T-G |
c.986T>G |
p.F329C |
Missense |
8/8 |
- |
1 |
X-69255270-C-T |
c.987C>T |
p.F329= |
Synonymous |
8/8 |
- |
3 |
X-69255271-C-A |
c.988C>A |
p.L330M |
Missense |
8/8 |
- |
1 |
X-69255271-C-G |
c.988C>G |
p.L330V |
Missense |
8/8 |
- |
1 |
X-69255271-CT-AA |
c.988_989delinsAA |
p.L330K |
Missense |
8/8 |
- |
1 |
X-69255271-CT-AC |
c.988_989delinsAC |
p.L330T |
Missense |
8/8 |
- |
1 |
X-69255271-CT-GA |
c.988_989delinsGA |
p.L330E |
Missense |
8/8 |
- |
1 |
X-69255271-CTG-AAC |
c.988_990delinsAAC |
p.L330N |
Missense |
8/8 |
- |
1 |
X-69255271-CTG-ATC |
c.988_990delinsATC |
p.L330I |
Missense |
8/8 |
- |
1 |
X-69255271-CT-GC |
c.988_989delinsGC |
p.L330A |
Missense |
8/8 |
- |
1 |
X-69255271-CT-GG |
c.988_989delinsGG |
p.L330G |
Missense |
8/8 |
- |
1 |
X-69255271-CTG-GAC |
c.988_990delinsGAC |
p.L330D |
Missense |
8/8 |
- |
1 |
X-69255271-CTG-TAT |
c.988_990delinsTAT |
p.L330Y |
Missense |
8/8 |
- |
2 |
X-69255271-CTG-TGT |
c.988_990delinsTGT |
p.L330C |
Missense |
8/8 |
- |
1 |
X-69255271-CTG-TTT |
c.988_990delinsTTT |
p.L330F |
Missense |
8/8 |
- |
1 |
X-69255271-CT-TC |
c.988_989delinsTC |
p.L330S |
Missense |
8/8 |
- |
1 |
X-69255271-CT-TG |
c.988_989delinsTG |
p.L330W |
Missense |
8/8 |
- |
1 |
X-69255272-T-A |
c.989T>A |
p.L330Q |
Missense |
8/8 |
- |
1 |
X-69255272-T-C |
c.989T>C |
p.L330P |
Missense |
8/8 |
- |
2 |
X-69255272-T-G |
c.989T>G |
p.L330R |
Missense |
8/8 |
- |
1 |
X-69255272-TG-AT |
c.989_990delinsAT |
p.L330H |
Missense |
8/8 |
- |
1 |
X-69255274-C-A |
c.991C>A |
p.Q331K |
Missense |
8/8 |
- |
1 |
X-69255274-CA-AC |
c.991_992delinsAC |
p.Q331T |
Missense |
8/8 |
- |
1 |
X-69255274-CA-AT |
c.991_992delinsAT |
p.Q331M |
Missense |
8/8 |
- |
1 |
X-69255274-CAG-AAC |
c.991_993delinsAAC |
p.Q331N |
Missense |
8/8 |
- |
1 |
X-69255274-CAG-ATC |
c.991_993delinsATC |
p.Q331I |
Missense |
8/8 |
- |
1 |
X-69255274-CA-GC |
c.991_992delinsGC |
p.Q331A |
Missense |
8/8 |
- |
1 |
X-69255274-CA-GG |
c.991_992delinsGG |
p.Q331G |
Missense |
8/8 |
- |
1 |
X-69255274-CAG-GAC |
c.991_993delinsGAC |
p.Q331D |
Missense |
8/8 |
- |
1 |
X-69255274-CA-GT |
c.991_992delinsGT |
p.Q331V |
Missense |
8/8 |
- |
1 |
X-69255274-CAG-TAT |
c.991_993delinsTAT |
p.Q331Y |
Missense |
8/8 |
- |
1 |
X-69255274-CAG-TGT |
c.991_993delinsTGT |
p.Q331C |
Missense |
8/8 |
- |
1 |
X-69255274-CAG-TTT |
c.991_993delinsTTT |
p.Q331F |
Missense |
8/8 |
- |
1 |
X-69255274-CA-TC |
c.991_992delinsTC |
p.Q331S |
Missense |
8/8 |
- |
1 |
X-69255274-CA-TG |
c.991_992inv |
p.Q331W |
Missense |
8/8 |
- |
1 |
X-69255274-C-G |
c.991C>G |
p.Q331E |
Missense |
8/8 |
- |
1 |
X-69255275-A-C |
c.992A>C |
p.Q331P |
Missense |
8/8 |
- |
1 |
X-69255275-A-G |
c.992A>G |
p.Q331R |
Missense |
8/8 |
- |
1 |
X-69255275-A-T |
c.992A>T |
p.Q331L |
Missense |
8/8 |
- |
1 |
X-69255276-G-C |
c.993G>C |
p.Q331H |
Missense |
8/8 |
- |
2 |
X-69255276-G-T |
c.993G>T |
p.Q331H |
Missense |
8/8 |
- |
2 |
X-69255277-T-A |
c.994T>A |
p.C332S |
Missense |
8/8 |
- |
1 |
X-69255277-T-C |
c.994T>C |
p.C332R |
Missense |
8/8 |
- |
1 |
X-69255277-T-G |
c.994T>G |
p.C332G |
Missense |
8/8 |
- |
1 |
X-69255277-TG-AA |
c.994_995delinsAA |
p.C332N |
Missense |
8/8 |
- |
1 |
X-69255277-TG-AC |
c.994_995delinsAC |
p.C332T |
Missense |
8/8 |
- |
1 |
X-69255277-TG-AT |
c.994_995delinsAT |
p.C332I |
Missense |
8/8 |
- |
1 |
X-69255277-TG-CA |
c.994_995inv |
p.C332H |
Missense |
8/8 |
- |
1 |
X-69255277-TGC-AAG |
c.994_996delinsAAG |
p.C332K |
Missense |
8/8 |
- |
1 |
X-69255277-TGC-ATG |
c.994_996delinsATG |
p.C332M |
Missense |
8/8 |
- |
1 |
X-69255277-TG-CC |
c.994_995delinsCC |
p.C332P |
Missense |
8/8 |
- |
1 |
X-69255277-TGC-CAA |
c.994_996delinsCAA |
p.C332Q |
Missense |
8/8 |
- |
1 |
X-69255277-TGC-GAG |
c.994_996delinsGAG |
p.C332E |
Missense |
8/8 |
- |
1 |
X-69255277-TG-CT |
c.994_995delinsCT |
p.C332L |
Missense |
8/8 |
- |
1 |
X-69255277-TG-GA |
c.994_995delinsGA |
p.C332D |
Missense |
8/8 |
- |
1 |
X-69255277-TG-GC |
c.994_995delinsGC |
p.C332A |
Missense |
8/8 |
- |
1 |
X-69255277-TG-GT |
c.994_995delinsGT |
p.C332V |
Missense |
8/8 |
- |
1 |
X-69255278-G-C |
c.995G>C |
p.C332S |
Missense |
8/8 |
- |
1 |
X-69255278-G-A |
c.995G>A |
p.C332Y |
Missense |
8/8 |
- |
6 |
X-69255278-G-T |
c.995G>T |
p.C332F |
Missense |
8/8 |
- |
2 |
X-69255279-C-G |
c.996C>G |
p.C332W |
Missense |
8/8 |
- |
1 |
X-69255280-A-C |
c.997A>C |
p.T333P |
Missense |
8/8 |
- |
1 |
X-69255280-ACA-CAT |
c.997_999delinsCAT |
p.T333H |
Missense |
8/8 |
- |
1 |
X-69255280-ACA-GAC |
c.997_999delinsGAC |
p.T333D |
Missense |
8/8 |
- |
1 |
X-69255280-ACA-TAT |
c.997_999delinsTAT |
p.T333Y |
Missense |
8/8 |
- |
1 |
X-69255280-ACA-TGG |
c.997_999delinsTGG |
p.T333W |
Missense |
8/8 |
- |
1 |
X-69255280-ACA-TGT |
c.997_999inv |
p.T333C |
Missense |
8/8 |
- |
1 |
X-69255280-ACA-TTT |
c.997_999delinsTTT |
p.T333F |
Missense |
8/8 |
- |
1 |
X-69255280-AC-CA |
c.997_998delinsCA |
p.T333Q |
Missense |
8/8 |
- |
1 |
X-69255280-AC-CT |
c.997_998delinsCT |
p.T333L |
Missense |
8/8 |
- |
1 |
X-69255280-AC-GA |
c.997_998delinsGA |
p.T333E |
Missense |
8/8 |
- |
1 |
X-69255280-AC-GG |
c.997_998delinsGG |
p.T333G |
Missense |
8/8 |
- |
1 |
X-69255280-AC-GT |
c.997_998inv |
p.T333V |
Missense |
8/8 |
- |
1 |
X-69255280-A-G |
c.997A>G |
p.T333A |
Missense |
8/8 |
- |
1 |
X-69255280-A-T |
c.997A>T |
p.T333S |
Missense |
8/8 |
- |
1 |
X-69255281-C-A |
c.998C>A |
p.T333K |
Missense |
8/8 |
- |
1 |
X-69255281-CA-AC |
c.998_999delinsAC |
p.T333N |
Missense |
8/8 |
- |
1 |
X-69255281-CA-TG |
c.998_999inv |
p.T333M |
Missense |
8/8 |
- |
2 |
X-69255281-C-G |
c.998C>G |
p.T333R |
Missense |
8/8 |
- |
2 |
X-69255281-C-T |
c.998C>T |
p.T333I |
Missense |
8/8 |
- |
1 |
X-69255283-C-A |
c.1000C>A |
p.R334S |
Missense |
8/8 |
- |
1 |
X-69255283-C-G |
c.1000C>G |
p.R334G |
Missense |
8/8 |
- |
1 |
X-69255283-CG-AA |
c.1000_1001delinsAA |
p.R334N |
Missense |
8/8 |
- |
1 |
X-69255283-CG-AC |
c.1000_1001delinsAC |
p.R334T |
Missense |
8/8 |
- |
1 |
X-69255283-CG-AT |
c.1000_1001delinsAT |
p.R334I |
Missense |
8/8 |
- |
1 |
X-69255283-CGC-AAG |
c.1000_1002delinsAAG |
p.R334K |
Missense |
8/8 |
- |
1 |
X-69255283-CGC-ATG |
c.1000_1002delinsATG |
p.R334M |
Missense |
8/8 |
- |
1 |
X-69255283-CGC-GAG |
c.1000_1002delinsGAG |
p.R334E |
Missense |
8/8 |
- |
1 |
X-69255283-CGC-TGG |
c.1000_1002delinsTGG |
p.R334W |
Missense |
8/8 |
- |
1 |
X-69255283-CG-GA |
c.1000_1001delinsGA |
p.R334D |
Missense |
8/8 |
- |
1 |
X-69255283-CG-GC |
c.1000_1001delinsGC |
p.R334A |
Missense |
8/8 |
- |
1 |
X-69255283-CG-GT |
c.1000_1001delinsGT |
p.R334V |
Missense |
8/8 |
- |
1 |
X-69255283-CG-TA |
c.1000_1001delinsTA |
p.R334Y |
Missense |
8/8 |
- |
1 |
X-69255283-CG-TT |
c.1000_1001delinsTT |
p.R334F |
Missense |
8/8 |
- |
1 |
X-69255283-C-T |
c.1000C>T |
p.R334C |
Missense |
8/8 |
- |
1 |
X-69255284-G-A |
c.1001G>A |
p.R334H |
Missense |
8/8 |
- |
17 |
X-69255284-G-C |
c.1001G>C |
p.R334P |
Missense |
8/8 |
- |
2 |
X-69255284-GC-AA |
c.1001_1002delinsAA |
p.R334Q |
Missense |
8/8 |
- |
1 |
X-69255284-G-T |
c.1001G>T |
p.R334L |
Missense |
8/8 |
- |
3 |
X-69255286-A-G |
c.1003A>G |
p.S335G |
Missense |
8/8 |
- |
1 |
X-69255286-AG-CA |
c.1003_1004delinsCA |
p.S335H |
Missense |
8/8 |
- |
1 |
X-69255286-AG-CC |
c.1003_1004delinsCC |
p.S335P |
Missense |
8/8 |
- |
1 |
X-69255286-AGC-CAA |
c.1003_1005delinsCAA |
p.S335Q |
Missense |
8/8 |
- |
1 |
X-69255286-AGC-GAG |
c.1003_1005delinsGAG |
p.S335E |
Missense |
8/8 |
- |
1 |
X-69255286-AG-CT |
c.1003_1004inv |
p.S335L |
Missense |
8/8 |
- |
1 |
X-69255286-AGC-TGG |
c.1003_1005delinsTGG |
p.S335W |
Missense |
8/8 |
- |
1 |
X-69255286-AG-GA |
c.1003_1004delinsGA |
p.S335D |
Missense |
8/8 |
- |
1 |
X-69255286-AG-GC |
c.1003_1004delinsGC |
p.S335A |
Missense |
8/8 |
- |
1 |
X-69255286-AG-GT |
c.1003_1004delinsGT |
p.S335V |
Missense |
8/8 |
- |
1 |
X-69255286-AG-TA |
c.1003_1004delinsTA |
p.S335Y |
Missense |
8/8 |
- |
1 |
X-69255286-AG-TT |
c.1003_1004delinsTT |
p.S335F |
Missense |
8/8 |
- |
1 |
X-69255286-A-T |
c.1003A>T |
p.S335C |
Missense |
8/8 |
- |
1 |
X-69255287-G-A |
c.1004G>A |
p.S335N |
Missense |
8/8 |
- |
1 |
X-69255287-G-C |
c.1004G>C |
p.S335T |
Missense |
8/8 |
- |
1 |
X-69255287-GC-AG |
c.1004_1005delinsAG |
p.S335K |
Missense |
8/8 |
- |
1 |
X-69255287-GC-TG |
c.1004_1005delinsTG |
p.S335M |
Missense |
8/8 |
- |
1 |
X-69255287-G-T |
c.1004G>T |
p.S335I |
Missense |
8/8 |
- |
4 |
X-69255286-A-C |
c.1003A>C |
p.S335R |
Missense |
8/8 |
- |
1 |
X-69255288-C-A |
c.1005C>A |
p.S335R |
Missense |
8/8 |
- |
1 |
X-69255288-C-G |
c.1005C>G |
p.S335R |
Missense |
8/8 |
- |
1 |
X-69255289-A-C |
c.1006A>C |
p.I336L |
Missense |
8/8 |
- |
1 |
X-69255289-A-G |
c.1006A>G |
p.I336V |
Missense |
8/8 |
- |
1 |
X-69255289-A-T |
c.1006A>T |
p.I336F |
Missense |
8/8 |
- |
1 |
X-69255289-AT-CA |
c.1006_1007delinsCA |
p.I336H |
Missense |
8/8 |
- |
1 |
X-69255289-AT-CC |
c.1006_1007delinsCC |
p.I336P |
Missense |
8/8 |
- |
1 |
X-69255289-ATC-CAA |
c.1006_1008delinsCAA |
p.I336Q |
Missense |
8/8 |
- |
1 |
X-69255289-ATC-GAG |
c.1006_1008delinsGAG |
p.I336E |
Missense |
8/8 |
- |
1 |
X-69255289-ATC-TGG |
c.1006_1008delinsTGG |
p.I336W |
Missense |
8/8 |
- |
1 |
X-69255289-AT-GA |
c.1006_1007delinsGA |
p.I336D |
Missense |
8/8 |
- |
1 |
X-69255289-AT-GC |
c.1006_1007delinsGC |
p.I336A |
Missense |
8/8 |
- |
1 |
X-69255289-AT-GG |
c.1006_1007delinsGG |
p.I336G |
Missense |
8/8 |
- |
1 |
X-69255289-AT-TA |
c.1006_1007delinsTA |
p.I336Y |
Missense |
8/8 |
- |
1 |
X-69255289-AT-TG |
c.1006_1007delinsTG |
p.I336C |
Missense |
8/8 |
- |
1 |
X-69255290-T-A |
c.1007T>A |
p.I336N |
Missense |
8/8 |
- |
1 |
X-69255290-T-C |
c.1007T>C |
p.I336T |
Missense |
8/8 |
- |
1 |
X-69255290-TC-AG |
c.1007_1008delinsAG |
p.I336K |
Missense |
8/8 |
- |
1 |
X-69255290-TC-GG |
c.1007_1008delinsGG |
p.I336R |
Missense |
8/8 |
- |
1 |
X-69255290-T-G |
c.1007T>G |
p.I336S |
Missense |
8/8 |
- |
1 |
X-69255291-C-G |
c.1008C>G |
p.I336M |
Missense |
8/8 |
- |
1 |
X-69255291-C-T |
c.1008C>T |
p.I336= |
Synonymous |
8/8 |
- |
3 |
X-69255292-G-A |
c.1009G>A |
p.E337K |
Missense |
8/8 |
- |
5 |
X-69255292-GA-AC |
c.1009_1010delinsAC |
p.E337T |
Missense |
8/8 |
- |
1 |
X-69255292-GA-AG |
c.1009_1010delinsAG |
p.E337R |
Missense |
8/8 |
- |
1 |
X-69255292-GA-AT |
c.1009_1010delinsAT |
p.E337M |
Missense |
8/8 |
- |
1 |
X-69255292-GA-CC |
c.1009_1010delinsCC |
p.E337P |
Missense |
8/8 |
- |
1 |
X-69255292-GA-CT |
c.1009_1010delinsCT |
p.E337L |
Missense |
8/8 |
- |
1 |
X-69255292-GAG-AAC |
c.1009_1011delinsAAC |
p.E337N |
Missense |
8/8 |
- |
1 |
X-69255292-GAG-ATC |
c.1009_1011delinsATC |
p.E337I |
Missense |
8/8 |
- |
1 |
X-69255292-GAG-CAT |
c.1009_1011delinsCAT |
p.E337H |
Missense |
8/8 |
- |
1 |
X-69255292-GAG-TAT |
c.1009_1011delinsTAT |
p.E337Y |
Missense |
8/8 |
- |
1 |
X-69255292-GAG-TGT |
c.1009_1011delinsTGT |
p.E337C |
Missense |
8/8 |
- |
1 |
X-69255292-GAG-TTT |
c.1009_1011delinsTTT |
p.E337F |
Missense |
8/8 |
- |
1 |
X-69255292-GA-TC |
c.1009_1010inv |
p.E337S |
Missense |
8/8 |
- |
1 |
X-69255292-GA-TG |
c.1009_1010delinsTG |
p.E337W |
Missense |
8/8 |
- |
1 |
X-69255292-G-C |
c.1009G>C |
p.E337Q |
Missense |
8/8 |
- |
1 |
X-69255292-G-T |
c.1009G>T |
p.E337* |
Nonsense |
8/8 |
- |
1 |
X-69255293-A-C |
c.1010A>C |
p.E337A |
Missense |
8/8 |
- |
1 |
X-69255293-A-G |
c.1010A>G |
p.E337G |
Missense |
8/8 |
- |
1 |
X-69255293-A-T |
c.1010A>T |
p.E337V |
Missense |
8/8 |
- |
1 |
X-69255294-G-C |
c.1011G>C |
p.E337D |
Missense |
8/8 |
- |
1 |
X-69255294-G-T |
c.1011G>T |
p.E337D |
Missense |
8/8 |
- |
1 |
X-69255295-A-C |
c.1012A>C |
p.T338P |
Missense |
8/8 |
- |
1 |
X-69255295-AC-CA |
c.1012_1013delinsCA |
p.T338Q |
Missense |
8/8 |
- |
1 |
X-69255295-AC-CT |
c.1012_1013delinsCT |
p.T338L |
Missense |
8/8 |
- |
1 |
X-69255295-AC-GA |
c.1012_1013delinsGA |
p.T338E |
Missense |
8/8 |
- |
1 |
X-69255295-ACG-CAT |
c.1012_1014delinsCAT |
p.T338H |
Missense |
8/8 |
- |
1 |
X-69255295-AC-GG |
c.1012_1013delinsGG |
p.T338G |
Missense |
8/8 |
- |
1 |
X-69255295-ACG-GAC |
c.1012_1014delinsGAC |
p.T338D |
Missense |
8/8 |
- |
1 |
X-69255295-AC-GT |
c.1012_1013inv |
p.T338V |
Missense |
8/8 |
- |
1 |
X-69255295-ACG-TAT |
c.1012_1014delinsTAT |
p.T338Y |
Missense |
8/8 |
- |
1 |
X-69255295-ACG-TGT |
c.1012_1014delinsTGT |
p.T338C |
Missense |
8/8 |
- |
1 |
X-69255295-ACG-TTT |
c.1012_1014delinsTTT |
p.T338F |
Missense |
8/8 |
- |
1 |
X-69255295-AC-TG |
c.1012_1013delinsTG |
p.T338W |
Missense |
8/8 |
- |
1 |
X-69255295-A-G |
c.1012A>G |
p.T338A |
Missense |
8/8 |
- |
1 |
X-69255295-A-T |
c.1012A>T |
p.T338S |
Missense |
8/8 |
- |
1 |
X-69255296-AC-A |
c.1013del |
p.T338Rfs*36 |
Frameshift |
8/8 |
- |
1 |
X-69255296-C-A |
c.1013C>A |
p.T338K |
Missense |
8/8 |
- |
1 |
X-69255296-C-G |
c.1013C>G |
p.T338R |
Missense |
8/8 |
- |
1 |
X-69255296-CG-AC |
c.1013_1014delinsAC |
p.T338N |
Missense |
8/8 |
- |
1 |
X-69255296-CG-TC |
c.1013_1014delinsTC |
p.T338I |
Missense |
8/8 |
- |
1 |
X-69255296-C-T |
c.1013C>T |
p.T338M |
Missense |
8/8 |
- |
16 |
X-69255298-G-A |
c.1015G>A |
p.G339S |
Missense |
8/8 |
- |
2 |
X-69255299-G-A |
c.1016G>A |
p.G339D |
Missense |
8/8 |
- |
3 |
X-69255301-AA-CC |
c.1018_1019delinsCC |
p.K340P |
Missense |
8/8 |
- |
1 |
X-69255301-AA-CT |
c.1018_1019delinsCT |
p.K340L |
Missense |
8/8 |
- |
1 |
X-69255301-AA-GC |
c.1018_1019delinsGC |
p.K340A |
Missense |
8/8 |
- |
1 |
X-69255301-AAG-CAT |
c.1018_1020delinsCAT |
p.K340H |
Missense |
8/8 |
- |
1 |
X-69255301-AA-GG |
c.1018_1019delinsGG |
p.K340G |
Missense |
8/8 |
- |
1 |
X-69255301-AAG-GAC |
c.1018_1020delinsGAC |
p.K340D |
Missense |
8/8 |
- |
1 |
X-69255301-AA-GT |
c.1018_1019delinsGT |
p.K340V |
Missense |
8/8 |
- |
1 |
X-69255301-AAG-TAT |
c.1018_1020delinsTAT |
p.K340Y |
Missense |
8/8 |
- |
1 |
X-69255301-AAG-TGT |
c.1018_1020delinsTGT |
p.K340C |
Missense |
8/8 |
- |
1 |
X-69255301-AAG-TTT |
c.1018_1020delinsTTT |
p.K340F |
Missense |
8/8 |
- |
1 |
X-69255301-AA-TG |
c.1018_1019delinsTG |
p.K340W |
Missense |
8/8 |
- |
1 |
X-69255301-A-C |
c.1018A>C |
p.K340Q |
Missense |
8/8 |
- |
1 |
X-69255301-A-G |
c.1018A>G |
p.K340E |
Missense |
8/8 |
- |
1 |
X-69255300-CA-C |
c.1019del |
p.K340Rfs*34 |
Frameshift |
8/8 |
- |
1 |
X-69255302-A-C |
c.1019A>C |
p.K340T |
Missense |
8/8 |
- |
1 |
X-69255302-A-G |
c.1019A>G |
p.K340R |
Missense |
8/8 |
- |
2 |
X-69255302-AG-GC |
c.1019_1020delinsGC |
p.K340S |
Missense |
8/8 |
- |
1 |
X-69255302-AG-TC |
c.1019_1020delinsTC |
p.K340I |
Missense |
8/8 |
- |
1 |
X-69255302-A-T |
c.1019A>T |
p.K340M |
Missense |
8/8 |
- |
1 |
X-69255303-G-C |
c.1020G>C |
p.K340N |
Missense |
8/8 |
- |
1 |
X-69255303-G-T |
c.1020G>T |
p.K340N |
Missense |
8/8 |
- |
1 |
X-69255304-A-C |
c.1021A>C |
p.T341P |
Missense |
8/8 |
- |
1 |
X-69255304-AC-CA |
c.1021_1022delinsCA |
p.T341H |
Missense |
8/8 |
- |
1 |
X-69255304-ACC-CAA |
c.1021_1023delinsCAA |
p.T341Q |
Missense |
8/8 |
- |
1 |
X-69255304-ACC-GAG |
c.1021_1023delinsGAG |
p.T341E |
Missense |
8/8 |
- |
1 |
X-69255304-AC-CT |
c.1021_1022delinsCT |
p.T341L |
Missense |
8/8 |
- |
1 |
X-69255304-ACC-TGG |
c.1021_1023delinsTGG |
p.T341W |
Missense |
8/8 |
- |
1 |
X-69255304-AC-GA |
c.1021_1022delinsGA |
p.T341D |
Missense |
8/8 |
- |
1 |
X-69255304-AC-GG |
c.1021_1022delinsGG |
p.T341G |
Missense |
8/8 |
- |
1 |
X-69255304-AC-GT |
c.1021_1022inv |
p.T341V |
Missense |
8/8 |
- |
1 |
X-69255304-AC-TA |
c.1021_1022delinsTA |
p.T341Y |
Missense |
8/8 |
- |
1 |
X-69255304-AC-TG |
c.1021_1022delinsTG |
p.T341C |
Missense |
8/8 |
- |
2 |
X-69255304-AC-TT |
c.1021_1022delinsTT |
p.T341F |
Missense |
8/8 |
- |
1 |
X-69255304-A-G |
c.1021A>G |
p.T341A |
Missense |
8/8 |
- |
1 |
X-69255304-A-T |
c.1021A>T |
p.T341S |
Missense |
8/8 |
- |
1 |
X-69255305-C-A |
c.1022C>A |
p.T341N |
Missense |
8/8 |
- |
1 |
X-69255305-CC-AG |
c.1022_1023delinsAG |
p.T341K |
Missense |
8/8 |
- |
1 |
X-69255305-CC-GG |
c.1022_1023inv |
p.T341R |
Missense |
8/8 |
- |
1 |
X-69255305-CC-TG |
c.1022_1023delinsTG |
p.T341M |
Missense |
8/8 |
- |
1 |
X-69255305-C-G |
c.1022C>G |
p.T341S |
Missense |
8/8 |
- |
1 |
X-69255305-C-T |
c.1022C>T |
p.T341I |
Missense |
8/8 |
- |
1 |
X-69255307-AA-CC |
c.1024_1025delinsCC |
p.N342P |
Missense |
8/8 |
- |
1 |
X-69255307-AAC-CAA |
c.1024_1026delinsCAA |
p.N342Q |
Missense |
8/8 |
- |
1 |
X-69255307-AAC-GAG |
c.1024_1026delinsGAG |
p.N342E |
Missense |
8/8 |
- |
1 |
X-69255307-AA-CT |
c.1024_1025delinsCT |
p.N342L |
Missense |
8/8 |
- |
1 |
X-69255307-AAC-TGG |
c.1024_1026delinsTGG |
p.N342W |
Missense |
8/8 |
- |
1 |
X-69255307-AA-GC |
c.1024_1025delinsGC |
p.N342A |
Missense |
8/8 |
- |
1 |
X-69255307-AA-GG |
c.1024_1025delinsGG |
p.N342G |
Missense |
8/8 |
- |
1 |
X-69255307-AA-GT |
c.1024_1025delinsGT |
p.N342V |
Missense |
8/8 |
- |
1 |
X-69255307-AA-TG |
c.1024_1025delinsTG |
p.N342C |
Missense |
8/8 |
- |
1 |
X-69255307-AA-TT |
c.1024_1025inv |
p.N342F |
Missense |
8/8 |
- |
1 |
X-69255307-A-C |
c.1024A>C |
p.N342H |
Missense |
8/8 |
- |
1 |
X-69255307-A-G |
c.1024A>G |
p.N342D |
Missense |
8/8 |
- |
1 |
X-69255307-A-T |
c.1024A>T |
p.N342Y |
Missense |
8/8 |
- |
1 |
X-69255308-A-C |
c.1025A>C |
p.N342T |
Missense |
8/8 |
- |
1 |
X-69255308-AC-GG |
c.1025_1026delinsGG |
p.N342R |
Missense |
8/8 |
- |
1 |
X-69255308-AC-TG |
c.1025_1026delinsTG |
p.N342M |
Missense |
8/8 |
- |
1 |
X-69255308-A-G |
c.1025A>G |
p.N342S |
Missense |
8/8 |
- |
1 |
X-69255308-A-T |
c.1025A>T |
p.N342I |
Missense |
8/8 |
- |
1 |
X-69255309-C-A |
c.1026C>A |
p.N342K |
Missense |
8/8 |
- |
1 |
X-69255309-C-G |
c.1026C>G |
p.N342K |
Missense |
8/8 |
- |
1 |
X-69255310-T-A |
c.1027T>A |
p.Y343N |
Missense |
8/8 |
- |
1 |
X-69255310-TA-AC |
c.1027_1028delinsAC |
p.Y343T |
Missense |
8/8 |
- |
1 |
X-69255310-TA-AT |
c.1027_1028delinsAT |
p.Y343I |
Missense |
8/8 |
- |
1 |
X-69255310-TAC-AAG |
c.1027_1029delinsAAG |
p.Y343K |
Missense |
8/8 |
- |
1 |
X-69255310-TAC-ATG |
c.1027_1029delinsATG |
p.Y343M |
Missense |
8/8 |
- |
1 |
X-69255310-TA-CC |
c.1027_1028delinsCC |
p.Y343P |
Missense |
8/8 |
- |
1 |
X-69255310-TAC-CAA |
c.1027_1029delinsCAA |
p.Y343Q |
Missense |
8/8 |
- |
1 |
X-69255310-TA-CG |
c.1027_1028delinsCG |
p.Y343R |
Missense |
8/8 |
- |
1 |
X-69255310-TAC-GAG |
c.1027_1029delinsGAG |
p.Y343E |
Missense |
8/8 |
- |
1 |
X-69255310-TA-CT |
c.1027_1028delinsCT |
p.Y343L |
Missense |
8/8 |
- |
1 |
X-69255310-TA-GC |
c.1027_1028delinsGC |
p.Y343A |
Missense |
8/8 |
- |
1 |
X-69255310-TA-GG |
c.1027_1028delinsGG |
p.Y343G |
Missense |
8/8 |
- |
1 |
X-69255310-TA-GT |
c.1027_1028delinsGT |
p.Y343V |
Missense |
8/8 |
- |
1 |
X-69255310-T-C |
c.1027T>C |
p.Y343H |
Missense |
8/8 |
- |
1 |
X-69255310-T-G |
c.1027T>G |
p.Y343D |
Missense |
8/8 |
- |
2 |
X-69255311-A-C |
c.1028A>C |
p.Y343S |
Missense |
8/8 |
- |
1 |
X-69255311-AC-GG |
c.1028_1029delinsGG |
p.Y343W |
Missense |
8/8 |
- |
1 |
X-69255311-A-G |
c.1028A>G |
p.Y343C |
Missense |
8/8 |
- |
6 |
X-69255311-A-T |
c.1028A>T |
p.Y343F |
Missense |
8/8 |
- |
1 |
X-69255313-AA-CC |
c.1030_1031delinsCC |
p.N344P |
Missense |
8/8 |
- |
1 |
X-69255313-AAC-CAA |
c.1030_1032delinsCAA |
p.N344Q |
Missense |
8/8 |
- |
1 |
X-69255313-AAC-GAG |
c.1030_1032delinsGAG |
p.N344E |
Missense |
8/8 |
- |
1 |
X-69255313-AA-CT |
c.1030_1031delinsCT |
p.N344L |
Missense |
8/8 |
- |
1 |
X-69255313-AAC-TGG |
c.1030_1032delinsTGG |
p.N344W |
Missense |
8/8 |
- |
1 |
X-69255313-AA-GC |
c.1030_1031delinsGC |
p.N344A |
Missense |
8/8 |
- |
1 |
X-69255313-AA-GG |
c.1030_1031delinsGG |
p.N344G |
Missense |
8/8 |
- |
1 |
X-69255313-AA-GT |
c.1030_1031delinsGT |
p.N344V |
Missense |
8/8 |
- |
1 |
X-69255313-AA-TG |
c.1030_1031delinsTG |
p.N344C |
Missense |
8/8 |
- |
1 |
X-69255313-AA-TT |
c.1030_1031inv |
p.N344F |
Missense |
8/8 |
- |
1 |
X-69255313-A-C |
c.1030A>C |
p.N344H |
Missense |
8/8 |
- |
1 |
X-69255313-A-G |
c.1030A>G |
p.N344D |
Missense |
8/8 |
- |
1 |
X-69255313-A-T |
c.1030A>T |
p.N344Y |
Missense |
8/8 |
- |
1 |
X-69255314-A-C |
c.1031A>C |
p.N344T |
Missense |
8/8 |
- |
1 |
X-69255314-AC-GG |
c.1031_1032delinsGG |
p.N344R |
Missense |
8/8 |
- |
1 |
X-69255314-AC-TG |
c.1031_1032delinsTG |
p.N344M |
Missense |
8/8 |
- |
1 |
X-69255314-A-G |
c.1031A>G |
p.N344S |
Missense |
8/8 |
- |
1 |
X-69255314-A-T |
c.1031A>T |
p.N344I |
Missense |
8/8 |
- |
1 |
X-69255315-C-A |
c.1032C>A |
p.N344K |
Missense |
8/8 |
- |
1 |
X-69255315-C-G |
c.1032C>G |
p.N344K |
Missense |
8/8 |
- |
1 |
X-69255316-A-C |
c.1033A>C |
p.T345P |
Missense |
8/8 |
- |
1 |
X-69255316-AC-CA |
c.1033_1034delinsCA |
p.T345H |
Missense |
8/8 |
- |
1 |
X-69255316-AC-CT |
c.1033_1034delinsCT |
p.T345L |
Missense |
8/8 |
- |
1 |
X-69255316-AC-GA |
c.1033_1034delinsGA |
p.T345D |
Missense |
8/8 |
- |
1 |
X-69255316-AC-GG |
c.1033_1034delinsGG |
p.T345G |
Missense |
8/8 |
- |
1 |
X-69255316-AC-GT |
c.1033_1034inv |
p.T345V |
Missense |
8/8 |
- |
1 |
X-69255316-AC-TA |
c.1033_1034delinsTA |
p.T345Y |
Missense |
8/8 |
- |
1 |
X-69255316-ACT-CAA |
c.1033_1035delinsCAA |
p.T345Q |
Missense |
8/8 |
- |
1 |
X-69255316-AC-TG |
c.1033_1034delinsTG |
p.T345C |
Missense |
8/8 |
- |
1 |
X-69255316-ACT-GAG |
c.1033_1035delinsGAG |
p.T345E |
Missense |
8/8 |
- |
1 |
X-69255316-AC-TT |
c.1033_1034delinsTT |
p.T345F |
Missense |
8/8 |
- |
1 |
X-69255316-ACT-TGG |
c.1033_1035delinsTGG |
p.T345W |
Missense |
8/8 |
- |
1 |
X-69255316-A-G |
c.1033A>G |
p.T345A |
Missense |
8/8 |
- |
1 |
X-69255316-A-T |
c.1033A>T |
p.T345S |
Missense |
8/8 |
- |
1 |
X-69255317-C-A |
c.1034C>A |
p.T345N |
Missense |
8/8 |
- |
1 |
X-69255317-C-G |
c.1034C>G |
p.T345S |
Missense |
8/8 |
- |
2 |
X-69255317-C-T |
c.1034C>T |
p.T345I |
Missense |
8/8 |
- |
1 |
X-69255317-CT-AG |
c.1034_1035inv |
p.T345K |
Missense |
8/8 |
- |
1 |
X-69255317-CT-GG |
c.1034_1035delinsGG |
p.T345R |
Missense |
8/8 |
- |
1 |
X-69255317-CT-TG |
c.1034_1035delinsTG |
p.T345M |
Missense |
8/8 |
- |
1 |
X-69255319-T-A |
c.1036T>A |
p.C346S |
Missense |
8/8 |
- |
1 |
X-69255319-T-C |
c.1036T>C |
p.C346R |
Missense |
8/8 |
- |
1 |
X-69255319-T-G |
c.1036T>G |
p.C346G |
Missense |
8/8 |
- |
1 |
X-69255319-TG-AA |
c.1036_1037delinsAA |
p.C346N |
Missense |
8/8 |
- |
1 |
X-69255319-TG-AC |
c.1036_1037delinsAC |
p.C346T |
Missense |
8/8 |
- |
1 |
X-69255319-TG-AT |
c.1036_1037delinsAT |
p.C346I |
Missense |
8/8 |
- |
1 |
X-69255319-TG-CA |
c.1036_1037inv |
p.C346H |
Missense |
8/8 |
- |
1 |
X-69255319-TGC-AAG |
c.1036_1038delinsAAG |
p.C346K |
Missense |
8/8 |
- |
1 |
X-69255319-TGC-ATG |
c.1036_1038delinsATG |
p.C346M |
Missense |
8/8 |
- |
1 |
X-69255319-TG-CC |
c.1036_1037delinsCC |
p.C346P |
Missense |
8/8 |
- |
1 |
X-69255319-TGC-CAA |
c.1036_1038delinsCAA |
p.C346Q |
Missense |
8/8 |
- |
1 |
X-69255319-TGC-GAG |
c.1036_1038delinsGAG |
p.C346E |
Missense |
8/8 |
- |
1 |
X-69255319-TG-CT |
c.1036_1037delinsCT |
p.C346L |
Missense |
8/8 |
- |
1 |
X-69255319-TG-GA |
c.1036_1037delinsGA |
p.C346D |
Missense |
8/8 |
- |
1 |
X-69255319-TG-GC |
c.1036_1037delinsGC |
p.C346A |
Missense |
8/8 |
- |
1 |
X-69255319-TG-GT |
c.1036_1037delinsGT |
p.C346V |
Missense |
8/8 |
- |
1 |
X-69255320-G-C |
c.1037G>C |
p.C346S |
Missense |
8/8 |
- |
1 |
X-69255320-G-A |
c.1037G>A |
p.C346Y |
Missense |
8/8 |
- |
6 |
X-69255320-G-T |
c.1037G>T |
p.C346F |
Missense |
8/8 |
- |
2 |
X-69255321-C-A |
c.1038C>A |
p.C346* |
Nonsense |
8/8 |
- |
1 |
X-69255321-C-G |
c.1038C>G |
p.C346W |
Missense |
8/8 |
- |
4 |
X-69255322-T-A |
c.1039T>A |
p.Y347N |
Missense |
8/8 |
- |
1 |
X-69255322-TA-AC |
c.1039_1040delinsAC |
p.Y347T |
Missense |
8/8 |
- |
1 |
X-69255322-TA-AT |
c.1039_1040delinsAT |
p.Y347I |
Missense |
8/8 |
- |
1 |
X-69255322-TA-CC |
c.1039_1040delinsCC |
p.Y347P |
Missense |
8/8 |
- |
1 |
X-69255322-TA-CG |
c.1039_1040delinsCG |
p.Y347R |
Missense |
8/8 |
- |
1 |
X-69255322-TA-CT |
c.1039_1040delinsCT |
p.Y347L |
Missense |
8/8 |
- |
1 |
X-69255322-TA-GC |
c.1039_1040delinsGC |
p.Y347A |
Missense |
8/8 |
- |
1 |
X-69255322-TA-GG |
c.1039_1040delinsGG |
p.Y347G |
Missense |
8/8 |
- |
1 |
X-69255322-TA-GT |
c.1039_1040delinsGT |
p.Y347V |
Missense |
8/8 |
- |
1 |
X-69255322-TAT-AAG |
c.1039_1041delinsAAG |
p.Y347K |
Missense |
8/8 |
- |
1 |
X-69255322-TAT-ATG |
c.1039_1041delinsATG |
p.Y347M |
Missense |
8/8 |
- |
1 |
X-69255322-TAT-CAA |
c.1039_1041delinsCAA |
p.Y347Q |
Missense |
8/8 |
- |
1 |
X-69255322-TAT-GAG |
c.1039_1041delinsGAG |
p.Y347E |
Missense |
8/8 |
- |
1 |
X-69255322-T-C |
c.1039T>C |
p.Y347H |
Missense |
8/8 |
- |
1 |
X-69255322-T-G |
c.1039T>G |
p.Y347D |
Missense |
8/8 |
- |
1 |
X-69255323-A-C |
c.1040A>C |
p.Y347S |
Missense |
8/8 |
- |
1 |
X-69255323-A-G |
c.1040A>G |
p.Y347C |
Missense |
8/8 |
- |
1 |
X-69255323-A-T |
c.1040A>T |
p.Y347F |
Missense |
8/8 |
- |
1 |
X-69255323-AT-GG |
c.1040_1041delinsGG |
p.Y347W |
Missense |
8/8 |
- |
1 |
X-69255325-A-C |
c.1042A>C |
p.T348P |
Missense |
8/8 |
- |
1 |
X-69255325-AC-CA |
c.1042_1043delinsCA |
p.T348H |
Missense |
8/8 |
- |
1 |
X-69255325-ACC-CAA |
c.1042_1044delinsCAA |
p.T348Q |
Missense |
8/8 |
- |
1 |
X-69255325-ACC-GAG |
c.1042_1044delinsGAG |
p.T348E |
Missense |
8/8 |
- |
1 |
X-69255325-AC-CT |
c.1042_1043delinsCT |
p.T348L |
Missense |
8/8 |
- |
1 |
X-69255325-ACC-TGG |
c.1042_1044delinsTGG |
p.T348W |
Missense |
8/8 |
- |
1 |
X-69255325-AC-GA |
c.1042_1043delinsGA |
p.T348D |
Missense |
8/8 |
- |
1 |
X-69255325-AC-GG |
c.1042_1043delinsGG |
p.T348G |
Missense |
8/8 |
- |
1 |
X-69255325-AC-GT |
c.1042_1043inv |
p.T348V |
Missense |
8/8 |
- |
1 |
X-69255325-AC-TA |
c.1042_1043delinsTA |
p.T348Y |
Missense |
8/8 |
- |
1 |
X-69255325-AC-TG |
c.1042_1043delinsTG |
p.T348C |
Missense |
8/8 |
- |
1 |
X-69255325-AC-TT |
c.1042_1043delinsTT |
p.T348F |
Missense |
8/8 |
- |
1 |
X-69255325-A-G |
c.1042A>G |
p.T348A |
Missense |
8/8 |
- |
1 |
X-69255325-A-T |
c.1042A>T |
p.T348S |
Missense |
8/8 |
- |
1 |
X-69255326-C-A |
c.1043C>A |
p.T348N |
Missense |
8/8 |
- |
1 |
X-69255326-CC-AG |
c.1043_1044delinsAG |
p.T348K |
Missense |
8/8 |
- |
1 |
X-69255326-CC-GG |
c.1043_1044inv |
p.T348R |
Missense |
8/8 |
- |
1 |
X-69255326-CC-TG |
c.1043_1044delinsTG |
p.T348M |
Missense |
8/8 |
- |
1 |
X-69255326-C-G |
c.1043C>G |
p.T348S |
Missense |
8/8 |
- |
1 |
X-69255326-C-T |
c.1043C>T |
p.T348I |
Missense |
8/8 |
- |
1 |
X-69255328-G-A |
c.1045G>A |
p.A349T |
Missense |
8/8 |
- |
11 |
X-69255328-G-C |
c.1045G>C |
p.A349P |
Missense |
8/8 |
- |
1 |
X-69255328-GC-AA |
c.1045_1046delinsAA |
p.A349K |
Missense |
8/8 |
- |
1 |
X-69255328-GCA-AAC |
c.1045_1047delinsAAC |
p.A349N |
Missense |
8/8 |
- |
1 |
X-69255328-GCA-ATG |
c.1045_1047delinsATG |
p.A349M |
Missense |
8/8 |
- |
1 |
X-69255328-GCA-CAT |
c.1045_1047delinsCAT |
p.A349H |
Missense |
8/8 |
- |
1 |
X-69255328-GC-AG |
c.1045_1046delinsAG |
p.A349R |
Missense |
8/8 |
- |
1 |
X-69255328-GC-AT |
c.1045_1046delinsAT |
p.A349I |
Missense |
8/8 |
- |
1 |
X-69255328-GCA-TAT |
c.1045_1047delinsTAT |
p.A349Y |
Missense |
8/8 |
- |
1 |
X-69255328-GCA-TGG |
c.1045_1047delinsTGG |
p.A349W |
Missense |
8/8 |
- |
1 |
X-69255328-GCA-TGT |
c.1045_1047delinsTGT |
p.A349C |
Missense |
8/8 |
- |
1 |
X-69255328-GCA-TTT |
c.1045_1047delinsTTT |
p.A349F |
Missense |
8/8 |
- |
1 |
X-69255328-GC-CA |
c.1045_1046delinsCA |
p.A349Q |
Missense |
8/8 |
- |
1 |
X-69255328-GC-CT |
c.1045_1046delinsCT |
p.A349L |
Missense |
8/8 |
- |
1 |
X-69255328-G-T |
c.1045G>T |
p.A349S |
Missense |
8/8 |
- |
1 |
X-69255329-C-A |
c.1046C>A |
p.A349E |
Missense |
8/8 |
- |
1 |
X-69255329-CA-AC |
c.1046_1047delinsAC |
p.A349D |
Missense |
8/8 |
- |
2 |
X-69255329-C-G |
c.1046C>G |
p.A349G |
Missense |
8/8 |
- |
1 |
X-69255329-C-T |
c.1046C>T |
p.A349V |
Missense |
8/8 |
- |
4 |
X-69255331-G-A |
c.1048G>A |
p.G350S |
Missense |
8/8 |
- |
1 |
X-69255331-G-C |
c.1048G>C |
p.G350R |
Missense |
8/8 |
- |
1 |
X-69255331-GG-AA |
c.1048_1049delinsAA |
p.G350N |
Missense |
8/8 |
- |
1 |
X-69255331-GG-AC |
c.1048_1049delinsAC |
p.G350T |
Missense |
8/8 |
- |
1 |
X-69255331-GG-AT |
c.1048_1049delinsAT |
p.G350I |
Missense |
8/8 |
- |
1 |
X-69255331-GG-CA |
c.1048_1049delinsCA |
p.G350H |
Missense |
8/8 |
- |
1 |
X-69255331-GGC-AAG |
c.1048_1050delinsAAG |
p.G350K |
Missense |
8/8 |
- |
1 |
X-69255331-GGC-ATG |
c.1048_1050delinsATG |
p.G350M |
Missense |
8/8 |
- |
1 |
X-69255331-GG-CC |
c.1048_1049inv |
p.G350P |
Missense |
8/8 |
- |
1 |
X-69255331-GGC-CAA |
c.1048_1050delinsCAA |
p.G350Q |
Missense |
8/8 |
- |
1 |
X-69255331-GG-CT |
c.1048_1049delinsCT |
p.G350L |
Missense |
8/8 |
- |
1 |
X-69255331-GGC-TGG |
c.1048_1050delinsTGG |
p.G350W |
Missense |
8/8 |
- |
1 |
X-69255331-GG-TA |
c.1048_1049delinsTA |
p.G350Y |
Missense |
8/8 |
- |
1 |
X-69255331-GG-TT |
c.1048_1049delinsTT |
p.G350F |
Missense |
8/8 |
- |
1 |
X-69255331-G-T |
c.1048G>T |
p.G350C |
Missense |
8/8 |
- |
1 |
X-69255332-G-A |
c.1049G>A |
p.G350D |
Missense |
8/8 |
- |
6 |
X-69255332-G-C |
c.1049G>C |
p.G350A |
Missense |
8/8 |
- |
1 |
X-69255332-GC-AG |
c.1049_1050delinsAG |
p.G350E |
Missense |
8/8 |
- |
1 |
X-69255332-G-T |
c.1049G>T |
p.G350V |
Missense |
8/8 |
- |
2 |
X-69255334-G-A |
c.1051G>A |
p.V351I |
Missense |
8/8 |
- |
4 |
X-69255334-G-C |
c.1051G>C |
p.V351L |
Missense |
8/8 |
- |
2 |
X-69255334-G-T |
c.1051G>T |
p.V351F |
Missense |
8/8 |
- |
4 |
X-69255334-GT-AA |
c.1051_1052delinsAA |
p.V351N |
Missense |
8/8 |
- |
1 |
X-69255334-GT-AC |
c.1051_1052inv |
p.V351T |
Missense |
8/8 |
- |
1 |
X-69255334-GT-AG |
c.1051_1052delinsAG |
p.V351S |
Missense |
8/8 |
- |
1 |
X-69255334-GT-CA |
c.1051_1052delinsCA |
p.V351H |
Missense |
8/8 |
- |
1 |
X-69255334-GTC-AAG |
c.1051_1053delinsAAG |
p.V351K |
Missense |
8/8 |
- |
1 |
X-69255334-GTC-ATG |
c.1051_1053delinsATG |
p.V351M |
Missense |
8/8 |
- |
1 |
X-69255334-GT-CC |
c.1051_1052delinsCC |
p.V351P |
Missense |
8/8 |
- |
1 |
X-69255334-GTC-CAA |
c.1051_1053delinsCAA |
p.V351Q |
Missense |
8/8 |
- |
1 |
X-69255334-GT-CG |
c.1051_1052delinsCG |
p.V351R |
Missense |
8/8 |
- |
1 |
X-69255334-GTC-TGG |
c.1051_1053delinsTGG |
p.V351W |
Missense |
8/8 |
- |
1 |
X-69255334-GT-TA |
c.1051_1052delinsTA |
p.V351Y |
Missense |
8/8 |
- |
1 |
X-69255334-GT-TG |
c.1051_1052delinsTG |
p.V351C |
Missense |
8/8 |
- |
1 |
X-69255335-T-A |
c.1052T>A |
p.V351D |
Missense |
8/8 |
- |
1 |
X-69255335-T-C |
c.1052T>C |
p.V351A |
Missense |
8/8 |
- |
1 |
X-69255335-TC-AG |
c.1052_1053delinsAG |
p.V351E |
Missense |
8/8 |
- |
1 |
X-69255335-T-G |
c.1052T>G |
p.V351G |
Missense |
8/8 |
- |
1 |
X-69255337-T-A |
c.1054T>A |
p.C352S |
Missense |
8/8 |
- |
1 |
X-69255337-T-C |
c.1054T>C |
p.C352R |
Missense |
8/8 |
- |
1 |
X-69255337-T-G |
c.1054T>G |
p.C352G |
Missense |
8/8 |
- |
1 |
X-69255337-TG-AA |
c.1054_1055delinsAA |
p.C352N |
Missense |
8/8 |
- |
1 |
X-69255337-TG-AC |
c.1054_1055delinsAC |
p.C352T |
Missense |
8/8 |
- |
1 |
X-69255337-TG-AT |
c.1054_1055delinsAT |
p.C352I |
Missense |
8/8 |
- |
1 |
X-69255337-TG-CA |
c.1054_1055inv |
p.C352H |
Missense |
8/8 |
- |
1 |
X-69255337-TGC-AAG |
c.1054_1056delinsAAG |
p.C352K |
Missense |
8/8 |
- |
1 |
X-69255337-TGC-ATG |
c.1054_1056delinsATG |
p.C352M |
Missense |
8/8 |
- |
1 |
X-69255337-TG-CC |
c.1054_1055delinsCC |
p.C352P |
Missense |
8/8 |
- |
1 |
X-69255337-TGC-CAA |
c.1054_1056delinsCAA |
p.C352Q |
Missense |
8/8 |
- |
1 |
X-69255337-TGC-GAG |
c.1054_1056delinsGAG |
p.C352E |
Missense |
8/8 |
- |
1 |
X-69255337-TG-CT |
c.1054_1055delinsCT |
p.C352L |
Missense |
8/8 |
- |
1 |
X-69255337-TG-GA |
c.1054_1055delinsGA |
p.C352D |
Missense |
8/8 |
- |
1 |
X-69255337-TG-GC |
c.1054_1055delinsGC |
p.C352A |
Missense |
8/8 |
- |
1 |
X-69255337-TG-GT |
c.1054_1055delinsGT |
p.C352V |
Missense |
8/8 |
- |
1 |
X-69255338-G-C |
c.1055G>C |
p.C352S |
Missense |
8/8 |
- |
1 |
X-69255338-G-A |
c.1055G>A |
p.C352Y |
Missense |
8/8 |
- |
1 |
X-69255338-G-T |
c.1055G>T |
p.C352F |
Missense |
8/8 |
- |
1 |
X-69255339-C-G |
c.1056C>G |
p.C352W |
Missense |
8/8 |
- |
1 |
X-69255339-C-T |
c.1056C>T |
p.C352= |
Synonymous |
8/8 |
- |
2 |
X-69255340-C-A |
c.1057C>A |
p.L353I |
Missense |
8/8 |
- |
1 |
X-69255340-C-G |
c.1057C>G |
p.L353V |
Missense |
8/8 |
- |
4 |
X-69255340-C-T |
c.1057C>T |
p.L353F |
Missense |
8/8 |
- |
1 |
X-69255340-CT-AA |
c.1057_1058delinsAA |
p.L353N |
Missense |
8/8 |
- |
1 |
X-69255340-CT-AC |
c.1057_1058delinsAC |
p.L353T |
Missense |
8/8 |
- |
1 |
X-69255340-CT-AG |
c.1057_1058inv |
p.L353S |
Missense |
8/8 |
- |
1 |
X-69255340-CTC-AAG |
c.1057_1059delinsAAG |
p.L353K |
Missense |
8/8 |
- |
1 |
X-69255340-CTC-ATG |
c.1057_1059delinsATG |
p.L353M |
Missense |
8/8 |
- |
1 |
X-69255340-CTC-GAG |
c.1057_1059inv |
p.L353E |
Missense |
8/8 |
- |
1 |
X-69255340-CTC-TGG |
c.1057_1059delinsTGG |
p.L353W |
Missense |
8/8 |
- |
1 |
X-69255340-CT-GA |
c.1057_1058delinsGA |
p.L353D |
Missense |
8/8 |
- |
1 |
X-69255340-CT-GC |
c.1057_1058delinsGC |
p.L353A |
Missense |
8/8 |
- |
1 |
X-69255340-CT-GG |
c.1057_1058delinsGG |
p.L353G |
Missense |
8/8 |
- |
1 |
X-69255340-CT-TA |
c.1057_1058delinsTA |
p.L353Y |
Missense |
8/8 |
- |
1 |
X-69255340-CT-TG |
c.1057_1058delinsTG |
p.L353C |
Missense |
8/8 |
- |
1 |
X-69255341-T-A |
c.1058T>A |
p.L353H |
Missense |
8/8 |
- |
1 |
X-69255341-T-C |
c.1058T>C |
p.L353P |
Missense |
8/8 |
- |
1 |
X-69255341-TC-AA |
c.1058_1059delinsAA |
p.L353Q |
Missense |
8/8 |
- |
1 |
X-69255341-T-G |
c.1058T>G |
p.L353R |
Missense |
8/8 |
- |
1 |
X-69255342-C-T |
c.1059C>T |
p.L353= |
Synonymous |
8/8 |
- |
1 |
X-69255343-C-A |
c.1060C>A |
p.L354I |
Missense |
8/8 |
- |
1 |
X-69255343-C-G |
c.1060C>G |
p.L354V |
Missense |
8/8 |
- |
1 |
X-69255343-C-T |
c.1060C>T |
p.L354F |
Missense |
8/8 |
- |
1 |
X-69255343-CT-AA |
c.1060_1061delinsAA |
p.L354N |
Missense |
8/8 |
- |
1 |
X-69255343-CT-AC |
c.1060_1061delinsAC |
p.L354T |
Missense |
8/8 |
- |
1 |
X-69255343-CT-AG |
c.1060_1061inv |
p.L354S |
Missense |
8/8 |
- |
1 |
X-69255343-CTC-AAG |
c.1060_1062delinsAAG |
p.L354K |
Missense |
8/8 |
- |
1 |
X-69255343-CTC-ATG |
c.1060_1062delinsATG |
p.L354M |
Missense |
8/8 |
- |
1 |
X-69255343-CTC-GAG |
c.1060_1062inv |
p.L354E |
Missense |
8/8 |
- |
1 |
X-69255343-CTC-TGG |
c.1060_1062delinsTGG |
p.L354W |
Missense |
8/8 |
- |
1 |
X-69255343-CT-GA |
c.1060_1061delinsGA |
p.L354D |
Missense |
8/8 |
- |
1 |
X-69255343-CT-GC |
c.1060_1061delinsGC |
p.L354A |
Missense |
8/8 |
- |
1 |
X-69255343-CT-GG |
c.1060_1061delinsGG |
p.L354G |
Missense |
8/8 |
- |
1 |
X-69255343-CT-TA |
c.1060_1061delinsTA |
p.L354Y |
Missense |
8/8 |
- |
1 |
X-69255343-CT-TG |
c.1060_1061delinsTG |
p.L354C |
Missense |
8/8 |
- |
1 |
X-69255344-T-A |
c.1061T>A |
p.L354H |
Missense |
8/8 |
- |
1 |
X-69255344-T-C |
c.1061T>C |
p.L354P |
Missense |
8/8 |
- |
5 |
X-69255344-TC-AA |
c.1061_1062delinsAA |
p.L354Q |
Missense |
8/8 |
- |
1 |
X-69255344-T-G |
c.1061T>G |
p.L354R |
Missense |
8/8 |
- |
1 |
X-69255346-AA-CC |
c.1063_1064delinsCC |
p.K355P |
Missense |
8/8 |
- |
1 |
X-69255346-AA-CT |
c.1063_1064delinsCT |
p.K355L |
Missense |
8/8 |
- |
1 |
X-69255346-AA-GC |
c.1063_1064delinsGC |
p.K355A |
Missense |
8/8 |
- |
1 |
X-69255346-AAG-CAT |
c.1063_1065delinsCAT |
p.K355H |
Missense |
8/8 |
- |
1 |
X-69255346-AA-GG |
c.1063_1064delinsGG |
p.K355G |
Missense |
8/8 |
- |
1 |
X-69255346-AAG-GAC |
c.1063_1065delinsGAC |
p.K355D |
Missense |
8/8 |
- |
1 |
X-69255346-AA-GT |
c.1063_1064delinsGT |
p.K355V |
Missense |
8/8 |
- |
1 |
X-69255346-AAG-TAT |
c.1063_1065delinsTAT |
p.K355Y |
Missense |
8/8 |
- |
1 |
X-69255346-AAG-TGT |
c.1063_1065delinsTGT |
p.K355C |
Missense |
8/8 |
- |
1 |
X-69255346-AAG-TTT |
c.1063_1065delinsTTT |
p.K355F |
Missense |
8/8 |
- |
1 |
X-69255346-AA-TG |
c.1063_1064delinsTG |
p.K355W |
Missense |
8/8 |
- |
1 |
X-69255346-A-C |
c.1063A>C |
p.K355Q |
Missense |
8/8 |
- |
1 |
X-69255346-A-G |
c.1063A>G |
p.K355E |
Missense |
8/8 |
- |
2 |
X-69255347-A-C |
c.1064A>C |
p.K355T |
Missense |
8/8 |
- |
1 |
X-69255347-A-G |
c.1064A>G |
p.K355R |
Missense |
8/8 |
- |
1 |
X-69255347-AG-GC |
c.1064_1065delinsGC |
p.K355S |
Missense |
8/8 |
- |
1 |
X-69255347-AG-TC |
c.1064_1065delinsTC |
p.K355I |
Missense |
8/8 |
- |
1 |
X-69255347-A-T |
c.1064A>T |
p.K355M |
Missense |
8/8 |
- |
1 |
X-69255348-G-C |
c.1065G>C |
p.K355N |
Missense |
8/8 |
- |
1 |
X-69255348-G-T |
c.1065G>T |
p.K355N |
Missense |
8/8 |
- |
1 |
X-69255349-G-A |
c.1066G>A |
p.A356T |
Missense |
8/8 |
- |
2 |
X-69255349-G-C |
c.1066G>C |
p.A356P |
Missense |
8/8 |
- |
1 |
X-69255349-GC-AA |
c.1066_1067delinsAA |
p.A356N |
Missense |
8/8 |
- |
1 |
X-69255349-GC-AT |
c.1066_1067delinsAT |
p.A356I |
Missense |
8/8 |
- |
1 |
X-69255349-GC-CA |
c.1066_1067delinsCA |
p.A356H |
Missense |
8/8 |
- |
1 |
X-69255349-GCC-AAG |
c.1066_1068delinsAAG |
p.A356K |
Missense |
8/8 |
- |
1 |
X-69255349-GCC-ATG |
c.1066_1068delinsATG |
p.A356M |
Missense |
8/8 |
- |
1 |
X-69255349-GCC-CAA |
c.1066_1068delinsCAA |
p.A356Q |
Missense |
8/8 |
- |
1 |
X-69255349-GC-CG |
c.1066_1067delinsCG |
p.A356R |
Missense |
8/8 |
- |
1 |
X-69255349-GC-CT |
c.1066_1067delinsCT |
p.A356L |
Missense |
8/8 |
- |
1 |
X-69255349-GCC-TGG |
c.1066_1068delinsTGG |
p.A356W |
Missense |
8/8 |
- |
1 |
X-69255349-GC-TA |
c.1066_1067delinsTA |
p.A356Y |
Missense |
8/8 |
- |
1 |
X-69255349-GC-TG |
c.1066_1067delinsTG |
p.A356C |
Missense |
8/8 |
- |
1 |
X-69255349-GC-TT |
c.1066_1067delinsTT |
p.A356F |
Missense |
8/8 |
- |
1 |
X-69255349-G-T |
c.1066G>T |
p.A356S |
Missense |
8/8 |
- |
1 |
X-69255350-C-A |
c.1067C>A |
p.A356D |
Missense |
8/8 |
- |
3 |
X-69255350-CC-AG |
c.1067_1068delinsAG |
p.A356E |
Missense |
8/8 |
- |
1 |
X-69255350-C-G |
c.1067C>G |
p.A356G |
Missense |
8/8 |
- |
2 |
X-69255350-C-T |
c.1067C>T |
p.A356V |
Missense |
8/8 |
- |
2 |
X-69255352-C-G |
c.1069C>G |
p.R357G |
Missense |
8/8 |
- |
1 |
X-69255352-CG-AA |
c.1069_1070delinsAA |
p.R357K |
Missense |
8/8 |
- |
1 |
X-69255352-CG-AC |
c.1069_1070delinsAC |
p.R357T |
Missense |
8/8 |
- |
1 |
X-69255352-CG-AT |
c.1069_1070delinsAT |
p.R357M |
Missense |
8/8 |
- |
1 |
X-69255352-CG-GA |
c.1069_1070delinsGA |
p.R357E |
Missense |
8/8 |
- |
1 |
X-69255352-CGG-AAC |
c.1069_1071delinsAAC |
p.R357N |
Missense |
8/8 |
- |
1 |
X-69255352-CGG-AGC |
c.1069_1071delinsAGC |
p.R357S |
Missense |
8/8 |
- |
1 |
X-69255352-CGG-ATC |
c.1069_1071delinsATC |
p.R357I |
Missense |
8/8 |
- |
1 |
X-69255352-CG-GC |
c.1069_1070delinsGC |
p.R357A |
Missense |
8/8 |
- |
1 |
X-69255352-CGG-GAC |
c.1069_1071delinsGAC |
p.R357D |
Missense |
8/8 |
- |
1 |
X-69255352-CG-GT |
c.1069_1070delinsGT |
p.R357V |
Missense |
8/8 |
- |
1 |
X-69255352-CGG-TAT |
c.1069_1071delinsTAT |
p.R357Y |
Missense |
8/8 |
- |
1 |
X-69255352-CGG-TGT |
c.1069_1071delinsTGT |
p.R357C |
Missense |
8/8 |
- |
1 |
X-69255352-CGG-TTT |
c.1069_1071delinsTTT |
p.R357F |
Missense |
8/8 |
- |
1 |
X-69255352-C-T |
c.1069C>T |
p.R357W |
Missense |
8/8 |
- |
4 |
X-69255353-G-A |
c.1070G>A |
p.R357Q |
Missense |
8/8 |
- |
2 |
X-69255353-G-C |
c.1070G>C |
p.R357P |
Missense |
8/8 |
- |
4 |
X-69255353-GG-AT |
c.1070_1071delinsAT |
p.R357H |
Missense |
8/8 |
- |
1 |
X-69255353-G-T |
c.1070G>T |
p.R357L |
Missense |
8/8 |
- |
4 |
X-69255355-C-A |
c.1072C>A |
p.Q358K |
Missense |
8/8 |
- |
1 |
X-69255355-CA-AC |
c.1072_1073delinsAC |
p.Q358T |
Missense |
8/8 |
- |
1 |
X-69255355-CA-AT |
c.1072_1073delinsAT |
p.Q358M |
Missense |
8/8 |
- |
1 |
X-69255355-CAG-AAC |
c.1072_1074delinsAAC |
p.Q358N |
Missense |
8/8 |
- |
1 |
X-69255355-CAG-ATC |
c.1072_1074delinsATC |
p.Q358I |
Missense |
8/8 |
- |
1 |
X-69255355-CA-GC |
c.1072_1073delinsGC |
p.Q358A |
Missense |
8/8 |
- |
1 |
X-69255355-CA-GG |
c.1072_1073delinsGG |
p.Q358G |
Missense |
8/8 |
- |
1 |
X-69255355-CAG-GAC |
c.1072_1074delinsGAC |
p.Q358D |
Missense |
8/8 |
- |
1 |
X-69255355-CA-GT |
c.1072_1073delinsGT |
p.Q358V |
Missense |
8/8 |
- |
1 |
X-69255355-CAG-TAT |
c.1072_1074delinsTAT |
p.Q358Y |
Missense |
8/8 |
- |
1 |
X-69255355-CAG-TGT |
c.1072_1074delinsTGT |
p.Q358C |
Missense |
8/8 |
- |
1 |
X-69255355-CAG-TTT |
c.1072_1074delinsTTT |
p.Q358F |
Missense |
8/8 |
- |
1 |
X-69255355-CA-TC |
c.1072_1073delinsTC |
p.Q358S |
Missense |
8/8 |
- |
1 |
X-69255355-CA-TG |
c.1072_1073inv |
p.Q358W |
Missense |
8/8 |
- |
1 |
X-69255355-C-G |
c.1072C>G |
p.Q358E |
Missense |
8/8 |
- |
13 |
X-69255355-C-T |
c.1072C>T |
p.Q358* |
Nonsense |
8/8 |
- |
5 |
X-69255356-A-C |
c.1073A>C |
p.Q358P |
Missense |
8/8 |
- |
1 |
X-69255356-A-G |
c.1073A>G |
p.Q358R |
Missense |
8/8 |
- |
1 |
X-69255356-A-T |
c.1073A>T |
p.Q358L |
Missense |
8/8 |
- |
2 |
X-69255357-AGAAGATCG-A |
c.1074_1081del |
p.Q358Hfs*8 |
Frameshift |
8/8 |
- |
1 |
X-69255357-G-C |
c.1074G>C |
p.Q358H |
Missense |
8/8 |
- |
2 |
X-69255357-G-T |
c.1074G>T |
p.Q358H |
Missense |
8/8 |
- |
2 |
X-69255358-AA-CC |
c.1075_1076delinsCC |
p.K359P |
Missense |
8/8 |
- |
1 |
X-69255358-AA-CT |
c.1075_1076delinsCT |
p.K359L |
Missense |
8/8 |
- |
1 |
X-69255358-AA-GC |
c.1075_1076delinsGC |
p.K359A |
Missense |
8/8 |
- |
1 |
X-69255358-AAG-CAT |
c.1075_1077delinsCAT |
p.K359H |
Missense |
8/8 |
- |
1 |
X-69255358-AA-GG |
c.1075_1076delinsGG |
p.K359G |
Missense |
8/8 |
- |
1 |
X-69255358-AAG-GAC |
c.1075_1077delinsGAC |
p.K359D |
Missense |
8/8 |
- |
1 |
X-69255358-AA-GT |
c.1075_1076delinsGT |
p.K359V |
Missense |
8/8 |
- |
1 |
X-69255358-AAG-TAT |
c.1075_1077delinsTAT |
p.K359Y |
Missense |
8/8 |
- |
1 |
X-69255358-AAG-TGT |
c.1075_1077delinsTGT |
p.K359C |
Missense |
8/8 |
- |
1 |
X-69255358-AAG-TTT |
c.1075_1077delinsTTT |
p.K359F |
Missense |
8/8 |
- |
1 |
X-69255358-AA-TG |
c.1075_1076delinsTG |
p.K359W |
Missense |
8/8 |
- |
1 |
X-69255358-A-C |
c.1075A>C |
p.K359Q |
Missense |
8/8 |
- |
1 |
X-69255358-A-G |
c.1075A>G |
p.K359E |
Missense |
8/8 |
- |
1 |
X-69255358-A-T |
c.1075A>T |
p.K359* |
Nonsense |
8/8 |
- |
2 |
X-69255359-A-C |
c.1076A>C |
p.K359T |
Missense |
8/8 |
- |
1 |
X-69255359-A-G |
c.1076A>G |
p.K359R |
Missense |
8/8 |
- |
1 |
X-69255359-AG-GC |
c.1076_1077delinsGC |
p.K359S |
Missense |
8/8 |
- |
1 |
X-69255359-AG-TC |
c.1076_1077delinsTC |
p.K359I |
Missense |
8/8 |
- |
1 |
X-69255359-A-T |
c.1076A>T |
p.K359M |
Missense |
8/8 |
- |
1 |
X-69255360-G-C |
c.1077G>C |
p.K359N |
Missense |
8/8 |
- |
4 |
X-69255360-G-T |
c.1077G>T |
p.K359N |
Missense |
8/8 |
- |
4 |
X-69255361-A-C |
c.1078A>C |
p.I360L |
Missense |
8/8 |
- |
1 |
X-69255361-A-G |
c.1078A>G |
p.I360V |
Missense |
8/8 |
- |
1 |
X-69255361-A-T |
c.1078A>T |
p.I360F |
Missense |
8/8 |
- |
1 |
X-69255361-AT-CA |
c.1078_1079delinsCA |
p.I360H |
Missense |
8/8 |
- |
1 |
X-69255361-AT-CC |
c.1078_1079delinsCC |
p.I360P |
Missense |
8/8 |
- |
1 |
X-69255361-ATC-CAA |
c.1078_1080delinsCAA |
p.I360Q |
Missense |
8/8 |
- |
1 |
X-69255361-ATC-GAG |
c.1078_1080delinsGAG |
p.I360E |
Missense |
8/8 |
- |
1 |
X-69255361-ATC-TGG |
c.1078_1080delinsTGG |
p.I360W |
Missense |
8/8 |
- |
1 |
X-69255361-AT-GA |
c.1078_1079delinsGA |
p.I360D |
Missense |
8/8 |
- |
1 |
X-69255361-AT-GC |
c.1078_1079delinsGC |
p.I360A |
Missense |
8/8 |
- |
1 |
X-69255361-AT-GG |
c.1078_1079delinsGG |
p.I360G |
Missense |
8/8 |
- |
1 |
X-69255361-AT-TA |
c.1078_1079delinsTA |
p.I360Y |
Missense |
8/8 |
- |
1 |
X-69255361-AT-TG |
c.1078_1079delinsTG |
p.I360C |
Missense |
8/8 |
- |
1 |
X-69255362-T-A |
c.1079T>A |
p.I360N |
Missense |
8/8 |
- |
3 |
X-69255362-T-C |
c.1079T>C |
p.I360T |
Missense |
8/8 |
- |
2 |
X-69255362-TC-AG |
c.1079_1080delinsAG |
p.I360K |
Missense |
8/8 |
- |
1 |
X-69255362-TC-GG |
c.1079_1080delinsGG |
p.I360R |
Missense |
8/8 |
- |
1 |
X-69255362-T-G |
c.1079T>G |
p.I360S |
Missense |
8/8 |
- |
1 |
X-69255363-C-G |
c.1080C>G |
p.I360M |
Missense |
8/8 |
- |
1 |
X-69255363-C-T |
c.1080C>T |
p.I360= |
Synonymous |
8/8 |
- |
3 |
X-69255364-G-A |
c.1081G>A |
p.A361T |
Missense |
8/8 |
- |
2 |
X-69255364-G-C |
c.1081G>C |
p.A361P |
Missense |
8/8 |
- |
1 |
X-69255364-GC-AA |
c.1081_1082delinsAA |
p.A361N |
Missense |
8/8 |
- |
1 |
X-69255364-GC-AT |
c.1081_1082delinsAT |
p.A361I |
Missense |
8/8 |
- |
1 |
X-69255364-GC-CA |
c.1081_1082delinsCA |
p.A361H |
Missense |
8/8 |
- |
1 |
X-69255364-GCC-AAG |
c.1081_1083delinsAAG |
p.A361K |
Missense |
8/8 |
- |
1 |
X-69255364-GCC-ATG |
c.1081_1083delinsATG |
p.A361M |
Missense |
8/8 |
- |
1 |
X-69255364-GCC-CAA |
c.1081_1083delinsCAA |
p.A361Q |
Missense |
8/8 |
- |
1 |
X-69255364-GC-CG |
c.1081_1082delinsCG |
p.A361R |
Missense |
8/8 |
- |
1 |
X-69255364-GC-CT |
c.1081_1082delinsCT |
p.A361L |
Missense |
8/8 |
- |
1 |
X-69255364-GCC-TGG |
c.1081_1083delinsTGG |
p.A361W |
Missense |
8/8 |
- |
1 |
X-69255364-GC-TA |
c.1081_1082delinsTA |
p.A361Y |
Missense |
8/8 |
- |
1 |
X-69255364-GC-TG |
c.1081_1082delinsTG |
p.A361C |
Missense |
8/8 |
- |
1 |
X-69255364-GC-TT |
c.1081_1082delinsTT |
p.A361F |
Missense |
8/8 |
- |
1 |
X-69255364-G-T |
c.1081G>T |
p.A361S |
Missense |
8/8 |
- |
1 |
X-69255365-C-A |
c.1082C>A |
p.A361D |
Missense |
8/8 |
- |
1 |
X-69255365-CC-AG |
c.1082_1083delinsAG |
p.A361E |
Missense |
8/8 |
- |
1 |
X-69255365-C-G |
c.1082C>G |
p.A361G |
Missense |
8/8 |
- |
1 |
X-69255365-C-T |
c.1082C>T |
p.A361V |
Missense |
8/8 |
- |
1 |
X-69255367-G-A |
c.1084G>A |
p.V362I |
Missense |
8/8 |
- |
2 |
X-69255367-G-C |
c.1084G>C |
p.V362L |
Missense |
8/8 |
- |
1 |
X-69255367-G-T |
c.1084G>T |
p.V362F |
Missense |
8/8 |
- |
1 |
X-69255367-GT-AA |
c.1084_1085delinsAA |
p.V362N |
Missense |
8/8 |
- |
1 |
X-69255367-GT-AC |
c.1084_1085inv |
p.V362T |
Missense |
8/8 |
- |
1 |
X-69255367-GT-AG |
c.1084_1085delinsAG |
p.V362S |
Missense |
8/8 |
- |
1 |
X-69255367-GT-CA |
c.1084_1085delinsCA |
p.V362H |
Missense |
8/8 |
- |
1 |
X-69255367-GTC-AAG |
c.1084_1086delinsAAG |
p.V362K |
Missense |
8/8 |
- |
1 |
X-69255367-GTC-ATG |
c.1084_1086delinsATG |
p.V362M |
Missense |
8/8 |
- |
1 |
X-69255367-GT-CC |
c.1084_1085delinsCC |
p.V362P |
Missense |
8/8 |
- |
1 |
X-69255367-GTC-CAA |
c.1084_1086delinsCAA |
p.V362Q |
Missense |
8/8 |
- |
1 |
X-69255367-GT-CG |
c.1084_1085delinsCG |
p.V362R |
Missense |
8/8 |
- |
1 |
X-69255367-GTC-TGG |
c.1084_1086delinsTGG |
p.V362W |
Missense |
8/8 |
- |
1 |
X-69255367-GT-TA |
c.1084_1085delinsTA |
p.V362Y |
Missense |
8/8 |
- |
1 |
X-69255367-GT-TG |
c.1084_1085delinsTG |
p.V362C |
Missense |
8/8 |
- |
1 |
X-69255368-T-A |
c.1085T>A |
p.V362D |
Missense |
8/8 |
- |
1 |
X-69255368-T-C |
c.1085T>C |
p.V362A |
Missense |
8/8 |
- |
1 |
X-69255368-TC-AG |
c.1085_1086delinsAG |
p.V362E |
Missense |
8/8 |
- |
1 |
X-69255368-T-G |
c.1085T>G |
p.V362G |
Missense |
8/8 |
- |
1 |
X-69255370-AA-CC |
c.1087_1088delinsCC |
p.K363P |
Missense |
8/8 |
- |
1 |
X-69255370-AA-CT |
c.1087_1088delinsCT |
p.K363L |
Missense |
8/8 |
- |
1 |
X-69255370-AA-GC |
c.1087_1088delinsGC |
p.K363A |
Missense |
8/8 |
- |
1 |
X-69255370-AAG-CAT |
c.1087_1089delinsCAT |
p.K363H |
Missense |
8/8 |
- |
1 |
X-69255370-AA-GG |
c.1087_1088delinsGG |
p.K363G |
Missense |
8/8 |
- |
1 |
X-69255370-AAG-GAC |
c.1087_1089delinsGAC |
p.K363D |
Missense |
8/8 |
- |
1 |
X-69255370-AA-GT |
c.1087_1088delinsGT |
p.K363V |
Missense |
8/8 |
- |
1 |
X-69255370-AAG-TAT |
c.1087_1089delinsTAT |
p.K363Y |
Missense |
8/8 |
- |
1 |
X-69255370-AAG-TGT |
c.1087_1089delinsTGT |
p.K363C |
Missense |
8/8 |
- |
1 |
X-69255370-AAG-TTT |
c.1087_1089delinsTTT |
p.K363F |
Missense |
8/8 |
- |
1 |
X-69255370-AA-TG |
c.1087_1088delinsTG |
p.K363W |
Missense |
8/8 |
- |
1 |
X-69255370-A-C |
c.1087A>C |
p.K363Q |
Missense |
8/8 |
- |
1 |
X-69255370-A-G |
c.1087A>G |
p.K363E |
Missense |
8/8 |
- |
3 |
X-69255371-A-C |
c.1088A>C |
p.K363T |
Missense |
8/8 |
- |
1 |
X-69255371-A-G |
c.1088A>G |
p.K363R |
Missense |
8/8 |
- |
1 |
X-69255371-AG-GC |
c.1088_1089delinsGC |
p.K363S |
Missense |
8/8 |
- |
1 |
X-69255371-AG-TC |
c.1088_1089delinsTC |
p.K363I |
Missense |
8/8 |
- |
1 |
X-69255371-A-T |
c.1088A>T |
p.K363M |
Missense |
8/8 |
- |
1 |
X-69255372-AG-A |
c.1089del |
p.M364Wfs*10 |
Frameshift |
8/8 |
- |
1 |
X-69255372-G-C |
c.1089G>C |
p.K363N |
Missense |
8/8 |
- |
1 |
X-69255372-G-T |
c.1089G>T |
p.K363N |
Missense |
8/8 |
- |
1 |
X-69255373-A-C |
c.1090A>C |
p.M364L |
Missense |
8/8 |
- |
1 |
X-69255373-A-G |
c.1090A>G |
p.M364V |
Missense |
8/8 |
- |
1 |
X-69255373-A-T |
c.1090A>T |
p.M364L |
Missense |
8/8 |
- |
1 |
X-69255373-AT-CA |
c.1090_1091delinsCA |
p.M364Q |
Missense |
8/8 |
- |
1 |
X-69255373-AT-CC |
c.1090_1091delinsCC |
p.M364P |
Missense |
8/8 |
- |
1 |
X-69255373-AT-GA |
c.1090_1091delinsGA |
p.M364E |
Missense |
8/8 |
- |
1 |
X-69255373-AT-GC |
c.1090_1091delinsGC |
p.M364A |
Missense |
8/8 |
- |
1 |
X-69255373-ATG-CAT |
c.1090_1092inv |
p.M364H |
Missense |
8/8 |
- |
1 |
X-69255373-AT-GG |
c.1090_1091delinsGG |
p.M364G |
Missense |
8/8 |
- |
1 |
X-69255373-ATG-GAC |
c.1090_1092delinsGAC |
p.M364D |
Missense |
8/8 |
- |
1 |
X-69255373-ATG-TAT |
c.1090_1092delinsTAT |
p.M364Y |
Missense |
8/8 |
- |
1 |
X-69255373-ATG-TGT |
c.1090_1092delinsTGT |
p.M364C |
Missense |
8/8 |
- |
1 |
X-69255373-ATG-TTT |
c.1090_1092delinsTTT |
p.M364F |
Missense |
8/8 |
- |
1 |
X-69255373-AT-TG |
c.1090_1091delinsTG |
p.M364W |
Missense |
8/8 |
- |
1 |
X-69255374-T-A |
c.1091T>A |
p.M364K |
Missense |
8/8 |
- |
1 |
X-69255374-T-C |
c.1091T>C |
p.M364T |
Missense |
8/8 |
- |
4 |
X-69255374-T-G |
c.1091T>G |
p.M364R |
Missense |
8/8 |
- |
3 |
X-69255374-TG-AC |
c.1091_1092delinsAC |
p.M364N |
Missense |
8/8 |
- |
1 |
X-69255374-TG-GC |
c.1091_1092delinsGC |
p.M364S |
Missense |
8/8 |
- |
1 |
X-69255375-G-A |
c.1092G>A |
p.M364I |
Missense |
8/8 |
- |
1 |
X-69255375-G-C |
c.1092G>C |
p.M364I |
Missense |
8/8 |
- |
1 |
X-69255375-G-T |
c.1092G>T |
p.M364I |
Missense |
8/8 |
- |
1 |
X-69255376-G-A |
c.1093G>A |
p.V365M |
Missense |
8/8 |
- |
2 |
X-69255376-G-C |
c.1093G>C |
p.V365L |
Missense |
8/8 |
- |
1 |
X-69255376-G-T |
c.1093G>T |
p.V365L |
Missense |
8/8 |
- |
1 |
X-69255376-GT-AA |
c.1093_1094delinsAA |
p.V365K |
Missense |
8/8 |
- |
1 |
X-69255376-GT-AC |
c.1093_1094inv |
p.V365T |
Missense |
8/8 |
- |
1 |
X-69255376-GT-AG |
c.1093_1094delinsAG |
p.V365R |
Missense |
8/8 |
- |
1 |
X-69255376-GT-CA |
c.1093_1094delinsCA |
p.V365Q |
Missense |
8/8 |
- |
1 |
X-69255376-GT-CC |
c.1093_1094delinsCC |
p.V365P |
Missense |
8/8 |
- |
1 |
X-69255376-GTG-AAC |
c.1093_1095delinsAAC |
p.V365N |
Missense |
8/8 |
- |
1 |
X-69255376-GTG-ATC |
c.1093_1095delinsATC |
p.V365I |
Missense |
8/8 |
- |
3 |
X-69255376-GTG-CAT |
c.1093_1095delinsCAT |
p.V365H |
Missense |
8/8 |
- |
1 |
X-69255376-GTG-TAT |
c.1093_1095delinsTAT |
p.V365Y |
Missense |
8/8 |
- |
1 |
X-69255376-GTG-TGT |
c.1093_1095delinsTGT |
p.V365C |
Missense |
8/8 |
- |
1 |
X-69255376-GTG-TTT |
c.1093_1095delinsTTT |
p.V365F |
Missense |
8/8 |
- |
1 |
X-69255376-GT-TC |
c.1093_1094delinsTC |
p.V365S |
Missense |
8/8 |
- |
1 |
X-69255376-GT-TG |
c.1093_1094delinsTG |
p.V365W |
Missense |
8/8 |
- |
1 |
X-69255377-T-A |
c.1094T>A |
p.V365E |
Missense |
8/8 |
- |
1 |
X-69255377-T-C |
c.1094T>C |
p.V365A |
Missense |
8/8 |
- |
7 |
X-69255377-T-G |
c.1094T>G |
p.V365G |
Missense |
8/8 |
- |
1 |
X-69255377-TG-AC |
c.1094_1095delinsAC |
p.V365D |
Missense |
8/8 |
- |
1 |
X-69255379-C-A |
c.1096C>A |
p.H366N |
Missense |
8/8 |
- |
1 |
X-69255379-CA-AC |
c.1096_1097delinsAC |
p.H366T |
Missense |
8/8 |
- |
1 |
X-69255379-CA-AG |
c.1096_1097delinsAG |
p.H366S |
Missense |
8/8 |
- |
1 |
X-69255379-CA-AT |
c.1096_1097delinsAT |
p.H366I |
Missense |
8/8 |
- |
1 |
X-69255379-CAC-AAG |
c.1096_1098delinsAAG |
p.H366K |
Missense |
8/8 |
- |
1 |
X-69255379-CAC-ATG |
c.1096_1098delinsATG |
p.H366M |
Missense |
8/8 |
- |
1 |
X-69255379-CAC-GAG |
c.1096_1098delinsGAG |
p.H366E |
Missense |
8/8 |
- |
1 |
X-69255379-CAC-TGG |
c.1096_1098delinsTGG |
p.H366W |
Missense |
8/8 |
- |
1 |
X-69255379-CA-GC |
c.1096_1097delinsGC |
p.H366A |
Missense |
8/8 |
- |
1 |
X-69255379-CA-GG |
c.1096_1097delinsGG |
p.H366G |
Missense |
8/8 |
- |
1 |
X-69255379-CA-GT |
c.1096_1097delinsGT |
p.H366V |
Missense |
8/8 |
- |
1 |
X-69255379-CA-TG |
c.1096_1097inv |
p.H366C |
Missense |
8/8 |
- |
1 |
X-69255379-CA-TT |
c.1096_1097delinsTT |
p.H366F |
Missense |
8/8 |
- |
1 |
X-69255379-C-G |
c.1096C>G |
p.H366D |
Missense |
8/8 |
- |
1 |
X-69255379-C-T |
c.1096C>T |
p.H366Y |
Missense |
8/8 |
- |
1 |
X-69255380-A-C |
c.1097A>C |
p.H366P |
Missense |
8/8 |
- |
1 |
X-69255380-A-G |
c.1097A>G |
p.H366R |
Missense |
8/8 |
- |
1 |
X-69255380-A-T |
c.1097A>T |
p.H366L |
Missense |
8/8 |
- |
1 |
X-69255381-C-A |
c.1098C>A |
p.H366Q |
Missense |
8/8 |
- |
1 |
X-69255381-C-G |
c.1098C>G |
p.H366Q |
Missense |
8/8 |
- |
1 |
X-69255382-G-A |
c.1099G>A |
p.A367T |
Missense |
8/8 |
- |
2 |
X-69255382-G-C |
c.1099G>C |
p.A367P |
Missense |
8/8 |
- |
1 |
X-69255382-GC-AA |
c.1099_1100delinsAA |
p.A367N |
Missense |
8/8 |
- |
1 |
X-69255382-GC-AT |
c.1099_1100delinsAT |
p.A367I |
Missense |
8/8 |
- |
1 |
X-69255382-GC-CA |
c.1099_1100delinsCA |
p.A367H |
Missense |
8/8 |
- |
1 |
X-69255382-GC-CG |
c.1099_1100delinsCG |
p.A367R |
Missense |
8/8 |
- |
1 |
X-69255382-GC-CT |
c.1099_1100delinsCT |
p.A367L |
Missense |
8/8 |
- |
1 |
X-69255382-GC-TA |
c.1099_1100delinsTA |
p.A367Y |
Missense |
8/8 |
- |
1 |
X-69255382-GCT-AAG |
c.1099_1101delinsAAG |
p.A367K |
Missense |
8/8 |
- |
1 |
X-69255382-GCT-ATG |
c.1099_1101delinsATG |
p.A367M |
Missense |
8/8 |
- |
1 |
X-69255382-GCT-CAA |
c.1099_1101delinsCAA |
p.A367Q |
Missense |
8/8 |
- |
1 |
X-69255382-GC-TG |
c.1099_1100delinsTG |
p.A367C |
Missense |
8/8 |
- |
1 |
X-69255382-GC-TT |
c.1099_1100delinsTT |
p.A367F |
Missense |
8/8 |
- |
1 |
X-69255382-GCT-TGG |
c.1099_1101delinsTGG |
p.A367W |
Missense |
8/8 |
- |
1 |
X-69255382-G-T |
c.1099G>T |
p.A367S |
Missense |
8/8 |
- |
1 |
X-69255383-C-A |
c.1100C>A |
p.A367D |
Missense |
8/8 |
- |
1 |
X-69255383-C-G |
c.1100C>G |
p.A367G |
Missense |
8/8 |
- |
1 |
X-69255383-C-T |
c.1100C>T |
p.A367V |
Missense |
8/8 |
- |
1 |
X-69255383-CT-AG |
c.1100_1101inv |
p.A367E |
Missense |
8/8 |
- |
1 |
X-69255385-G-A |
c.1102G>A |
p.D368N |
Missense |
8/8 |
- |
1 |
X-69255385-GA-AC |
c.1102_1103delinsAC |
p.D368T |
Missense |
8/8 |
- |
1 |
X-69255385-GA-AG |
c.1102_1103delinsAG |
p.D368S |
Missense |
8/8 |
- |
1 |
X-69255385-GA-AT |
c.1102_1103delinsAT |
p.D368I |
Missense |
8/8 |
- |
1 |
X-69255385-GAC-AAG |
c.1102_1104delinsAAG |
p.D368K |
Missense |
8/8 |
- |
1 |
X-69255385-GAC-ATG |
c.1102_1104delinsATG |
p.D368M |
Missense |
8/8 |
- |
1 |
X-69255385-GA-CC |
c.1102_1103delinsCC |
p.D368P |
Missense |
8/8 |
- |
1 |
X-69255385-GAC-CAA |
c.1102_1104delinsCAA |
p.D368Q |
Missense |
8/8 |
- |
1 |
X-69255385-GA-CG |
c.1102_1103delinsCG |
p.D368R |
Missense |
8/8 |
- |
1 |
X-69255385-GA-CT |
c.1102_1103delinsCT |
p.D368L |
Missense |
8/8 |
- |
1 |
X-69255385-GAC-TGG |
c.1102_1104delinsTGG |
p.D368W |
Missense |
8/8 |
- |
1 |
X-69255385-GA-TG |
c.1102_1103delinsTG |
p.D368C |
Missense |
8/8 |
- |
1 |
X-69255385-GA-TT |
c.1102_1103delinsTT |
p.D368F |
Missense |
8/8 |
- |
1 |
X-69255385-G-C |
c.1102G>C |
p.D368H |
Missense |
8/8 |
- |
1 |
X-69255385-G-T |
c.1102G>T |
p.D368Y |
Missense |
8/8 |
- |
2 |
X-69255386-A-C |
c.1103A>C |
p.D368A |
Missense |
8/8 |
- |
1 |
X-69255386-A-G |
c.1103A>G |
p.D368G |
Missense |
8/8 |
- |
1 |
X-69255386-A-T |
c.1103A>T |
p.D368V |
Missense |
8/8 |
- |
1 |
X-69255387-C-A |
c.1104C>A |
p.D368E |
Missense |
8/8 |
- |
1 |
X-69255387-C-G |
c.1104C>G |
p.D368E |
Missense |
8/8 |
- |
1 |
X-69255387-C-T |
c.1104C>T |
p.D368= |
Synonymous |
8/8 |
- |
2 |
X-69255388-A-C |
c.1105A>C |
p.I369L |
Missense |
8/8 |
- |
1 |
X-69255388-A-G |
c.1105A>G |
p.I369V |
Missense |
8/8 |
- |
1 |
X-69255388-A-T |
c.1105A>T |
p.I369F |
Missense |
8/8 |
- |
1 |
X-69255388-AT-CA |
c.1105_1106delinsCA |
p.I369H |
Missense |
8/8 |
- |
1 |
X-69255388-AT-CC |
c.1105_1106delinsCC |
p.I369P |
Missense |
8/8 |
- |
1 |
X-69255388-ATC-CAA |
c.1105_1107delinsCAA |
p.I369Q |
Missense |
8/8 |
- |
1 |
X-69255388-ATC-GAG |
c.1105_1107delinsGAG |
p.I369E |
Missense |
8/8 |
- |
1 |
X-69255388-ATC-TGG |
c.1105_1107delinsTGG |
p.I369W |
Missense |
8/8 |
- |
1 |
X-69255388-AT-GA |
c.1105_1106delinsGA |
p.I369D |
Missense |
8/8 |
- |
1 |
X-69255388-AT-GC |
c.1105_1106delinsGC |
p.I369A |
Missense |
8/8 |
- |
1 |
X-69255388-AT-GG |
c.1105_1106delinsGG |
p.I369G |
Missense |
8/8 |
- |
1 |
X-69255388-AT-TA |
c.1105_1106delinsTA |
p.I369Y |
Missense |
8/8 |
- |
1 |
X-69255388-AT-TG |
c.1105_1106delinsTG |
p.I369C |
Missense |
8/8 |
- |
1 |
X-69255389-T-A |
c.1106T>A |
p.I369N |
Missense |
8/8 |
- |
1 |
X-69255389-T-C |
c.1106T>C |
p.I369T |
Missense |
8/8 |
- |
1 |
X-69255389-TC-AG |
c.1106_1107delinsAG |
p.I369K |
Missense |
8/8 |
- |
1 |
X-69255389-TC-GG |
c.1106_1107delinsGG |
p.I369R |
Missense |
8/8 |
- |
1 |
X-69255389-T-G |
c.1106T>G |
p.I369S |
Missense |
8/8 |
- |
1 |
X-69255390-C-G |
c.1107C>G |
p.I369M |
Missense |
8/8 |
- |
1 |
X-69255390-C-T |
c.1107C>T |
p.I369= |
Synonymous |
8/8 |
- |
1 |
X-69255391-T-A |
c.1108T>A |
p.S370T |
Missense |
8/8 |
- |
1 |
X-69255391-T-C |
c.1108T>C |
p.S370P |
Missense |
8/8 |
- |
1 |
X-69255391-TC-AA |
c.1108_1109delinsAA |
p.S370N |
Missense |
8/8 |
- |
1 |
X-69255391-TC-AT |
c.1108_1109delinsAT |
p.S370I |
Missense |
8/8 |
- |
1 |
X-69255391-TC-CA |
c.1108_1109delinsCA |
p.S370H |
Missense |
8/8 |
- |
1 |
X-69255391-TCC-AAG |
c.1108_1110delinsAAG |
p.S370K |
Missense |
8/8 |
- |
2 |
X-69255391-TCC-ATG |
c.1108_1110delinsATG |
p.S370M |
Missense |
8/8 |
- |
1 |
X-69255391-TCC-CAA |
c.1108_1110delinsCAA |
p.S370Q |
Missense |
8/8 |
- |
1 |
X-69255391-TC-CG |
c.1108_1109delinsCG |
p.S370R |
Missense |
8/8 |
- |
1 |
X-69255391-TCC-GAG |
c.1108_1110delinsGAG |
p.S370E |
Missense |
8/8 |
- |
1 |
X-69255391-TC-CT |
c.1108_1109delinsCT |
p.S370L |
Missense |
8/8 |
- |
1 |
X-69255391-TC-GA |
c.1108_1109inv |
p.S370D |
Missense |
8/8 |
- |
1 |
X-69255391-TC-GG |
c.1108_1109delinsGG |
p.S370G |
Missense |
8/8 |
- |
1 |
X-69255391-TC-GT |
c.1108_1109delinsGT |
p.S370V |
Missense |
8/8 |
- |
1 |
X-69255391-T-G |
c.1108T>G |
p.S370A |
Missense |
8/8 |
- |
1 |
X-69255392-C-A |
c.1109C>A |
p.S370Y |
Missense |
8/8 |
- |
1 |
X-69255392-CC-GG |
c.1109_1110inv |
p.S370W |
Missense |
8/8 |
- |
1 |
X-69255392-C-G |
c.1109C>G |
p.S370C |
Missense |
8/8 |
- |
1 |
X-69255392-C-T |
c.1109C>T |
p.S370F |
Missense |
8/8 |
- |
1 |
X-69255394-A-C |
c.1111A>C |
p.I371L |
Missense |
8/8 |
- |
1 |
X-69255394-A-G |
c.1111A>G |
p.I371V |
Missense |
8/8 |
- |
1 |
X-69255394-A-T |
c.1111A>T |
p.I371F |
Missense |
8/8 |
- |
1 |
X-69255394-AT-CA |
c.1111_1112delinsCA |
p.I371H |
Missense |
8/8 |
- |
1 |
X-69255394-AT-CC |
c.1111_1112delinsCC |
p.I371P |
Missense |
8/8 |
- |
1 |
X-69255394-ATC-CAA |
c.1111_1113delinsCAA |
p.I371Q |
Missense |
8/8 |
- |
1 |
X-69255394-ATC-GAG |
c.1111_1113delinsGAG |
p.I371E |
Missense |
8/8 |
- |
1 |
X-69255394-ATC-TGG |
c.1111_1113delinsTGG |
p.I371W |
Missense |
8/8 |
- |
1 |
X-69255394-AT-GA |
c.1111_1112delinsGA |
p.I371D |
Missense |
8/8 |
- |
1 |
X-69255394-AT-GC |
c.1111_1112delinsGC |
p.I371A |
Missense |
8/8 |
- |
1 |
X-69255394-AT-GG |
c.1111_1112delinsGG |
p.I371G |
Missense |
8/8 |
- |
1 |
X-69255394-AT-TA |
c.1111_1112delinsTA |
p.I371Y |
Missense |
8/8 |
- |
1 |
X-69255394-AT-TG |
c.1111_1112delinsTG |
p.I371C |
Missense |
8/8 |
- |
1 |
X-69255395-T-A |
c.1112T>A |
p.I371N |
Missense |
8/8 |
- |
4 |
X-69255395-T-C |
c.1112T>C |
p.I371T |
Missense |
8/8 |
- |
1 |
X-69255395-TC-AG |
c.1112_1113delinsAG |
p.I371K |
Missense |
8/8 |
- |
1 |
X-69255395-TC-GG |
c.1112_1113delinsGG |
p.I371R |
Missense |
8/8 |
- |
1 |
X-69255395-T-G |
c.1112T>G |
p.I371S |
Missense |
8/8 |
- |
1 |
X-69255396-C-G |
c.1113C>G |
p.I371M |
Missense |
8/8 |
- |
1 |
X-69255397-AA-CC |
c.1114_1115delinsCC |
p.N372P |
Missense |
8/8 |
- |
1 |
X-69255397-AAC-CAA |
c.1114_1116delinsCAA |
p.N372Q |
Missense |
8/8 |
- |
1 |
X-69255397-AAC-GAG |
c.1114_1116delinsGAG |
p.N372E |
Missense |
8/8 |
- |
1 |
X-69255397-AA-CT |
c.1114_1115delinsCT |
p.N372L |
Missense |
8/8 |
- |
1 |
X-69255397-AAC-TGG |
c.1114_1116delinsTGG |
p.N372W |
Missense |
8/8 |
- |
1 |
X-69255397-AA-GC |
c.1114_1115delinsGC |
p.N372A |
Missense |
8/8 |
- |
1 |
X-69255397-AA-GG |
c.1114_1115delinsGG |
p.N372G |
Missense |
8/8 |
- |
1 |
X-69255397-AA-GT |
c.1114_1115delinsGT |
p.N372V |
Missense |
8/8 |
- |
1 |
X-69255397-AA-TG |
c.1114_1115delinsTG |
p.N372C |
Missense |
8/8 |
- |
1 |
X-69255397-AA-TT |
c.1114_1115inv |
p.N372F |
Missense |
8/8 |
- |
1 |
X-69255397-A-C |
c.1114A>C |
p.N372H |
Missense |
8/8 |
- |
2 |
X-69255397-A-G |
c.1114A>G |
p.N372D |
Missense |
8/8 |
- |
2 |
X-69255397-A-T |
c.1114A>T |
p.N372Y |
Missense |
8/8 |
- |
1 |
X-69255398-A-C |
c.1115A>C |
p.N372T |
Missense |
8/8 |
- |
1 |
X-69255398-AC-GG |
c.1115_1116delinsGG |
p.N372R |
Missense |
8/8 |
- |
1 |
X-69255398-AC-TG |
c.1115_1116delinsTG |
p.N372M |
Missense |
8/8 |
- |
1 |
X-69255398-A-G |
c.1115A>G |
p.N372S |
Missense |
8/8 |
- |
1 |
X-69255398-A-T |
c.1115A>T |
p.N372I |
Missense |
8/8 |
- |
1 |
X-69255399-C-A |
c.1116C>A |
p.N372K |
Missense |
8/8 |
- |
2 |
X-69255399-C-G |
c.1116C>G |
p.N372K |
Missense |
8/8 |
- |
3 |
X-69255400-A-C |
c.1117A>C |
p.M373L |
Missense |
8/8 |
- |
1 |
X-69255400-A-G |
c.1117A>G |
p.M373V |
Missense |
8/8 |
- |
2 |
X-69255400-A-T |
c.1117A>T |
p.M373L |
Missense |
8/8 |
- |
1 |
X-69255400-AT-CA |
c.1117_1118delinsCA |
p.M373Q |
Missense |
8/8 |
- |
1 |
X-69255400-AT-CC |
c.1117_1118delinsCC |
p.M373P |
Missense |
8/8 |
- |
1 |
X-69255400-AT-GA |
c.1117_1118delinsGA |
p.M373E |
Missense |
8/8 |
- |
1 |
X-69255400-AT-GC |
c.1117_1118delinsGC |
p.M373A |
Missense |
8/8 |
- |
1 |
X-69255400-ATG-CAT |
c.1117_1119inv |
p.M373H |
Missense |
8/8 |
- |
1 |
X-69255400-AT-GG |
c.1117_1118delinsGG |
p.M373G |
Missense |
8/8 |
- |
1 |
X-69255400-ATG-GAC |
c.1117_1119delinsGAC |
p.M373D |
Missense |
8/8 |
- |
1 |
X-69255400-ATG-TAT |
c.1117_1119delinsTAT |
p.M373Y |
Missense |
8/8 |
- |
1 |
X-69255400-ATG-TGT |
c.1117_1119delinsTGT |
p.M373C |
Missense |
8/8 |
- |
1 |
X-69255400-ATG-TTT |
c.1117_1119delinsTTT |
p.M373F |
Missense |
8/8 |
- |
1 |
X-69255400-AT-TG |
c.1117_1118delinsTG |
p.M373W |
Missense |
8/8 |
- |
1 |
X-69255401-T-A |
c.1118T>A |
p.M373K |
Missense |
8/8 |
- |
1 |
X-69255401-T-C |
c.1118T>C |
p.M373T |
Missense |
8/8 |
- |
1 |
X-69255401-T-G |
c.1118T>G |
p.M373R |
Missense |
8/8 |
- |
1 |
X-69255401-TG-AC |
c.1118_1119delinsAC |
p.M373N |
Missense |
8/8 |
- |
1 |
X-69255401-TG-GC |
c.1118_1119delinsGC |
p.M373S |
Missense |
8/8 |
- |
1 |
X-69255402-G-A |
c.1119G>A |
p.M373I |
Missense |
8/8 |
- |
2 |
X-69255402-G-C |
c.1119G>C |
p.M373I |
Missense |
8/8 |
- |
2 |
X-69255402-G-T |
c.1119G>T |
p.M373I |
Missense |
8/8 |
- |
2 |
X-69255403-A-G |
c.1120A>G |
p.S374G |
Missense |
8/8 |
- |
1 |
X-69255403-AG-CA |
c.1120_1121delinsCA |
p.S374H |
Missense |
8/8 |
- |
1 |
X-69255403-AG-CC |
c.1120_1121delinsCC |
p.S374P |
Missense |
8/8 |
- |
1 |
X-69255403-AGC-CAA |
c.1120_1122delinsCAA |
p.S374Q |
Missense |
8/8 |
- |
1 |
X-69255403-AGC-GAG |
c.1120_1122delinsGAG |
p.S374E |
Missense |
8/8 |
- |
1 |
X-69255403-AG-CT |
c.1120_1121inv |
p.S374L |
Missense |
8/8 |
- |
1 |
X-69255403-AGC-TGG |
c.1120_1122delinsTGG |
p.S374W |
Missense |
8/8 |
- |
1 |
X-69255403-AG-GA |
c.1120_1121delinsGA |
p.S374D |
Missense |
8/8 |
- |
1 |
X-69255403-AG-GC |
c.1120_1121delinsGC |
p.S374A |
Missense |
8/8 |
- |
2 |
X-69255403-AG-GT |
c.1120_1121delinsGT |
p.S374V |
Missense |
8/8 |
- |
1 |
X-69255403-AG-TA |
c.1120_1121delinsTA |
p.S374Y |
Missense |
8/8 |
- |
1 |
X-69255403-AG-TT |
c.1120_1121delinsTT |
p.S374F |
Missense |
8/8 |
- |
1 |
X-69255403-A-T |
c.1120A>T |
p.S374C |
Missense |
8/8 |
- |
1 |
X-69255404-G-A |
c.1121G>A |
p.S374N |
Missense |
8/8 |
- |
1 |
X-69255404-G-C |
c.1121G>C |
p.S374T |
Missense |
8/8 |
- |
2 |
X-69255404-GC-AG |
c.1121_1122delinsAG |
p.S374K |
Missense |
8/8 |
- |
1 |
X-69255404-GC-TG |
c.1121_1122delinsTG |
p.S374M |
Missense |
8/8 |
- |
1 |
X-69255404-G-T |
c.1121G>T |
p.S374I |
Missense |
8/8 |
- |
1 |
X-69255403-A-C |
c.1120A>C |
p.S374R |
Missense |
8/8 |
- |
9 |
X-69255405-C-A |
c.1122C>A |
p.S374R |
Missense |
8/8 |
- |
9 |
X-69255405-C-G |
c.1122C>G |
p.S374R |
Missense |
8/8 |
- |
9 |
X-69255406-AA-CC |
c.1123_1124delinsCC |
p.K375P |
Missense |
8/8 |
- |
1 |
X-69255406-AA-CT |
c.1123_1124delinsCT |
p.K375L |
Missense |
8/8 |
- |
1 |
X-69255406-AA-GC |
c.1123_1124delinsGC |
p.K375A |
Missense |
8/8 |
- |
1 |
X-69255406-AAG-CAT |
c.1123_1125delinsCAT |
p.K375H |
Missense |
8/8 |
- |
1 |
X-69255406-AA-GG |
c.1123_1124delinsGG |
p.K375G |
Missense |
8/8 |
- |
1 |
X-69255406-AAG-GAC |
c.1123_1125delinsGAC |
p.K375D |
Missense |
8/8 |
- |
1 |
X-69255406-AA-GT |
c.1123_1124delinsGT |
p.K375V |
Missense |
8/8 |
- |
1 |
X-69255406-AAG-TAT |
c.1123_1125delinsTAT |
p.K375Y |
Missense |
8/8 |
- |
1 |
X-69255406-AAG-TGT |
c.1123_1125delinsTGT |
p.K375C |
Missense |
8/8 |
- |
1 |
X-69255406-AAG-TTT |
c.1123_1125delinsTTT |
p.K375F |
Missense |
8/8 |
- |
1 |
X-69255406-AA-TG |
c.1123_1124delinsTG |
p.K375W |
Missense |
8/8 |
- |
1 |
X-69255406-A-C |
c.1123A>C |
p.K375Q |
Missense |
8/8 |
- |
1 |
X-69255406-A-G |
c.1123A>G |
p.K375E |
Missense |
8/8 |
- |
1 |
X-69255407-A-C |
c.1124A>C |
p.K375T |
Missense |
8/8 |
- |
1 |
X-69255407-A-G |
c.1124A>G |
p.K375R |
Missense |
8/8 |
- |
1 |
X-69255407-AG-GC |
c.1124_1125delinsGC |
p.K375S |
Missense |
8/8 |
- |
1 |
X-69255407-AG-TC |
c.1124_1125delinsTC |
p.K375I |
Missense |
8/8 |
- |
1 |
X-69255407-A-T |
c.1124A>T |
p.K375M |
Missense |
8/8 |
- |
1 |
X-69255408-G-C |
c.1125G>C |
p.K375N |
Missense |
8/8 |
- |
1 |
X-69255408-G-T |
c.1125G>T |
p.K375N |
Missense |
8/8 |
- |
1 |
X-69255409-C-A |
c.1126C>A |
p.H376N |
Missense |
8/8 |
- |
1 |
X-69255409-CA-AC |
c.1126_1127delinsAC |
p.H376T |
Missense |
8/8 |
- |
1 |
X-69255409-CA-AG |
c.1126_1127delinsAG |
p.H376S |
Missense |
8/8 |
- |
1 |
X-69255409-CA-AT |
c.1126_1127delinsAT |
p.H376I |
Missense |
8/8 |
- |
1 |
X-69255409-CAC-AAG |
c.1126_1128delinsAAG |
p.H376K |
Missense |
8/8 |
- |
1 |
X-69255409-CAC-ATG |
c.1126_1128delinsATG |
p.H376M |
Missense |
8/8 |
- |
1 |
X-69255409-CAC-GAG |
c.1126_1128delinsGAG |
p.H376E |
Missense |
8/8 |
- |
1 |
X-69255409-CAC-TGG |
c.1126_1128delinsTGG |
p.H376W |
Missense |
8/8 |
- |
1 |
X-69255409-CA-GC |
c.1126_1127delinsGC |
p.H376A |
Missense |
8/8 |
- |
1 |
X-69255409-CA-GG |
c.1126_1127delinsGG |
p.H376G |
Missense |
8/8 |
- |
1 |
X-69255409-CA-GT |
c.1126_1127delinsGT |
p.H376V |
Missense |
8/8 |
- |
1 |
X-69255409-CA-TG |
c.1126_1127inv |
p.H376C |
Missense |
8/8 |
- |
1 |
X-69255409-CA-TT |
c.1126_1127delinsTT |
p.H376F |
Missense |
8/8 |
- |
1 |
X-69255409-C-G |
c.1126C>G |
p.H376D |
Missense |
8/8 |
- |
1 |
X-69255409-C-T |
c.1126C>T |
p.H376Y |
Missense |
8/8 |
- |
1 |
X-69255410-A-C |
c.1127A>C |
p.H376P |
Missense |
8/8 |
- |
2 |
X-69255410-A-G |
c.1127A>G |
p.H376R |
Missense |
8/8 |
- |
1 |
X-69255410-A-T |
c.1127A>T |
p.H376L |
Missense |
8/8 |
- |
1 |
X-69255411-C-A |
c.1128C>A |
p.H376Q |
Missense |
8/8 |
- |
1 |
X-69255411-C-G |
c.1128C>G |
p.H376Q |
Missense |
8/8 |
- |
1 |
X-69255412-A-C |
c.1129A>C |
p.T377P |
Missense |
8/8 |
- |
1 |
X-69255412-AC-CA |
c.1129_1130delinsCA |
p.T377H |
Missense |
8/8 |
- |
1 |
X-69255412-ACC-CAA |
c.1129_1131delinsCAA |
p.T377Q |
Missense |
8/8 |
- |
1 |
X-69255412-ACC-GAG |
c.1129_1131delinsGAG |
p.T377E |
Missense |
8/8 |
- |
1 |
X-69255412-AC-CT |
c.1129_1130delinsCT |
p.T377L |
Missense |
8/8 |
- |
1 |
X-69255412-ACC-TGG |
c.1129_1131delinsTGG |
p.T377W |
Missense |
8/8 |
- |
1 |
X-69255412-AC-GA |
c.1129_1130delinsGA |
p.T377D |
Missense |
8/8 |
- |
1 |
X-69255412-AC-GG |
c.1129_1130delinsGG |
p.T377G |
Missense |
8/8 |
- |
1 |
X-69255412-AC-GT |
c.1129_1130inv |
p.T377V |
Missense |
8/8 |
- |
1 |
X-69255412-AC-TA |
c.1129_1130delinsTA |
p.T377Y |
Missense |
8/8 |
- |
1 |
X-69255412-AC-TG |
c.1129_1130delinsTG |
p.T377C |
Missense |
8/8 |
- |
1 |
X-69255412-AC-TT |
c.1129_1130delinsTT |
p.T377F |
Missense |
8/8 |
- |
1 |
X-69255412-A-G |
c.1129A>G |
p.T377A |
Missense |
8/8 |
- |
2 |
X-69255412-A-T |
c.1129A>T |
p.T377S |
Missense |
8/8 |
- |
1 |
X-69255413-C-A |
c.1130C>A |
p.T377N |
Missense |
8/8 |
- |
1 |
X-69255413-CC-AG |
c.1130_1131delinsAG |
p.T377K |
Missense |
8/8 |
- |
1 |
X-69255413-CC-GG |
c.1130_1131inv |
p.T377R |
Missense |
8/8 |
- |
1 |
X-69255413-CC-TG |
c.1130_1131delinsTG |
p.T377M |
Missense |
8/8 |
- |
1 |
X-69255413-C-G |
c.1130C>G |
p.T377S |
Missense |
8/8 |
- |
1 |
X-69255413-C-T |
c.1130C>T |
p.T377I |
Missense |
8/8 |
- |
1 |
X-69255415-A-C |
c.1132A>C |
p.T378P |
Missense |
8/8 |
- |
3 |
X-69255415-AC-CA |
c.1132_1133delinsCA |
p.T378Q |
Missense |
8/8 |
- |
1 |
X-69255415-AC-CT |
c.1132_1133delinsCT |
p.T378L |
Missense |
8/8 |
- |
1 |
X-69255415-AC-GA |
c.1132_1133delinsGA |
p.T378E |
Missense |
8/8 |
- |
1 |
X-69255415-ACG-CAT |
c.1132_1134delinsCAT |
p.T378H |
Missense |
8/8 |
- |
1 |
X-69255415-AC-GG |
c.1132_1133delinsGG |
p.T378G |
Missense |
8/8 |
- |
1 |
X-69255415-ACG-GAC |
c.1132_1134delinsGAC |
p.T378D |
Missense |
8/8 |
- |
1 |
X-69255415-AC-GT |
c.1132_1133inv |
p.T378V |
Missense |
8/8 |
- |
1 |
X-69255415-ACG-TAT |
c.1132_1134delinsTAT |
p.T378Y |
Missense |
8/8 |
- |
1 |
X-69255415-ACG-TGT |
c.1132_1134delinsTGT |
p.T378C |
Missense |
8/8 |
- |
1 |
X-69255415-ACG-TTT |
c.1132_1134delinsTTT |
p.T378F |
Missense |
8/8 |
- |
1 |
X-69255415-AC-TG |
c.1132_1133delinsTG |
p.T378W |
Missense |
8/8 |
- |
1 |
X-69255415-A-G |
c.1132A>G |
p.T378A |
Missense |
8/8 |
- |
1 |
X-69255415-A-T |
c.1132A>T |
p.T378S |
Missense |
8/8 |
- |
1 |
X-69255416-AC-A |
c.1133del |
p.T378Sfs*38 |
Frameshift |
8/8 |
- |
1 |
X-69255416-C-A |
c.1133C>A |
p.T378K |
Missense |
8/8 |
- |
2 |
X-69255416-C-G |
c.1133C>G |
p.T378R |
Missense |
8/8 |
- |
1 |
X-69255416-CG-AC |
c.1133_1134delinsAC |
p.T378N |
Missense |
8/8 |
- |
1 |
X-69255416-CG-TC |
c.1133_1134delinsTC |
p.T378I |
Missense |
8/8 |
- |
1 |
X-69255416-C-T |
c.1133C>T |
p.T378M |
Missense |
8/8 |
- |
10 |
X-69255417-G-A |
c.1134G>A |
p.T378= |
Synonymous |
8/8 |
- |
1 |
X-69255417-G-C |
c.1134G>C |
p.T378= |
Synonymous |
8/8 |
- |
1 |
X-69255417-G-T |
c.1134G>T |
p.T378= |
Synonymous |
8/8 |
- |
1 |
X-69255418-T-A |
c.1135T>A |
p.F379I |
Missense |
8/8 |
- |
1 |
X-69255418-T-C |
c.1135T>C |
p.F379L |
Missense |
8/8 |
- |
1 |
X-69255418-T-G |
c.1135T>G |
p.F379V |
Missense |
8/8 |
- |
1 |
X-69255418-TT-AA |
c.1135_1136inv |
p.F379N |
Missense |
8/8 |
- |
1 |
X-69255418-TT-AC |
c.1135_1136delinsAC |
p.F379T |
Missense |
8/8 |
- |
1 |
X-69255418-TT-CA |
c.1135_1136delinsCA |
p.F379H |
Missense |
8/8 |
- |
1 |
X-69255418-TTC-AAG |
c.1135_1137delinsAAG |
p.F379K |
Missense |
8/8 |
- |
1 |
X-69255418-TTC-ATG |
c.1135_1137delinsATG |
p.F379M |
Missense |
8/8 |
- |
1 |
X-69255418-TT-CC |
c.1135_1136delinsCC |
p.F379P |
Missense |
8/8 |
- |
1 |
X-69255418-TTC-CAA |
c.1135_1137delinsCAA |
p.F379Q |
Missense |
8/8 |
- |
1 |
X-69255418-TT-CG |
c.1135_1136delinsCG |
p.F379R |
Missense |
8/8 |
- |
1 |
X-69255418-TTC-GAG |
c.1135_1137delinsGAG |
p.F379E |
Missense |
8/8 |
- |
1 |
X-69255418-TT-GA |
c.1135_1136delinsGA |
p.F379D |
Missense |
8/8 |
- |
1 |
X-69255418-TT-GC |
c.1135_1136delinsGC |
p.F379A |
Missense |
8/8 |
- |
1 |
X-69255418-TT-GG |
c.1135_1136delinsGG |
p.F379G |
Missense |
8/8 |
- |
1 |
X-69255420-C-A |
c.1137C>A |
p.F379L |
Missense |
8/8 |
- |
2 |
X-69255420-C-G |
c.1137C>G |
p.F379L |
Missense |
8/8 |
- |
1 |
X-69255419-T-A |
c.1136T>A |
p.F379Y |
Missense |
8/8 |
- |
1 |
X-69255419-T-C |
c.1136T>C |
p.F379S |
Missense |
8/8 |
- |
3 |
X-69255419-TC-GG |
c.1136_1137delinsGG |
p.F379W |
Missense |
8/8 |
- |
1 |
X-69255419-T-G |
c.1136T>G |
p.F379C |
Missense |
8/8 |
- |
1 |
X-69255421-T-A |
c.1138T>A |
p.F380I |
Missense |
8/8 |
- |
1 |
X-69255421-T-C |
c.1138T>C |
p.F380L |
Missense |
8/8 |
- |
1 |
X-69255421-T-G |
c.1138T>G |
p.F380V |
Missense |
8/8 |
- |
1 |
X-69255421-TT-AA |
c.1138_1139inv |
p.F380N |
Missense |
8/8 |
- |
1 |
X-69255421-TT-AC |
c.1138_1139delinsAC |
p.F380T |
Missense |
8/8 |
- |
1 |
X-69255421-TT-CA |
c.1138_1139delinsCA |
p.F380H |
Missense |
8/8 |
- |
1 |
X-69255421-TT-CC |
c.1138_1139delinsCC |
p.F380P |
Missense |
8/8 |
- |
1 |
X-69255421-TT-CG |
c.1138_1139delinsCG |
p.F380R |
Missense |
8/8 |
- |
1 |
X-69255421-TT-GA |
c.1138_1139delinsGA |
p.F380D |
Missense |
8/8 |
- |
1 |
X-69255421-TT-GC |
c.1138_1139delinsGC |
p.F380A |
Missense |
8/8 |
- |
1 |
X-69255421-TT-GG |
c.1138_1139delinsGG |
p.F380G |
Missense |
8/8 |
- |
1 |
X-69255421-TTT-AAG |
c.1138_1140delinsAAG |
p.F380K |
Missense |
8/8 |
- |
1 |
X-69255421-TTT-ATG |
c.1138_1140delinsATG |
p.F380M |
Missense |
8/8 |
- |
1 |
X-69255421-TTT-CAA |
c.1138_1140delinsCAA |
p.F380Q |
Missense |
8/8 |
- |
1 |
X-69255421-TTT-GAG |
c.1138_1140delinsGAG |
p.F380E |
Missense |
8/8 |
- |
1 |
X-69255423-T-A |
c.1140T>A |
p.F380L |
Missense |
8/8 |
- |
1 |
X-69255423-T-G |
c.1140T>G |
p.F380L |
Missense |
8/8 |
- |
1 |
X-69255422-T-A |
c.1139T>A |
p.F380Y |
Missense |
8/8 |
- |
1 |
X-69255422-T-C |
c.1139T>C |
p.F380S |
Missense |
8/8 |
- |
1 |
X-69255422-T-G |
c.1139T>G |
p.F380C |
Missense |
8/8 |
- |
1 |
X-69255422-TT-GG |
c.1139_1140delinsGG |
p.F380W |
Missense |
8/8 |
- |
1 |
X-69255424-G-A |
c.1141G>A |
p.G381R |
Missense |
8/8 |
- |
2 |
X-69255424-G-C |
c.1141G>C |
p.G381R |
Missense |
8/8 |
- |
3 |
X-69255424-GG-AA |
c.1141_1142delinsAA |
p.G381K |
Missense |
8/8 |
- |
1 |
X-69255424-GG-AC |
c.1141_1142delinsAC |
p.G381T |
Missense |
8/8 |
- |
1 |
X-69255424-GG-AT |
c.1141_1142delinsAT |
p.G381M |
Missense |
8/8 |
- |
1 |
X-69255424-GG-CA |
c.1141_1142delinsCA |
p.G381Q |
Missense |
8/8 |
- |
1 |
X-69255424-GG-CC |
c.1141_1142inv |
p.G381P |
Missense |
8/8 |
- |
1 |
X-69255424-GG-CT |
c.1141_1142delinsCT |
p.G381L |
Missense |
8/8 |
- |
1 |
X-69255424-GGG-AAC |
c.1141_1143delinsAAC |
p.G381N |
Missense |
8/8 |
- |
1 |
X-69255424-GGG-AGC |
c.1141_1143delinsAGC |
p.G381S |
Missense |
8/8 |
- |
1 |
X-69255424-GGG-ATC |
c.1141_1143delinsATC |
p.G381I |
Missense |
8/8 |
- |
1 |
X-69255424-GGG-CAT |
c.1141_1143delinsCAT |
p.G381H |
Missense |
8/8 |
- |
1 |
X-69255424-GGG-TAT |
c.1141_1143delinsTAT |
p.G381Y |
Missense |
8/8 |
- |
1 |
X-69255424-GGG-TGT |
c.1141_1143delinsTGT |
p.G381C |
Missense |
8/8 |
- |
1 |
X-69255424-GGG-TTT |
c.1141_1143delinsTTT |
p.G381F |
Missense |
8/8 |
- |
1 |
X-69255424-G-T |
c.1141G>T |
p.G381W |
Missense |
8/8 |
- |
1 |
X-69255425-G-A |
c.1142G>A |
p.G381E |
Missense |
8/8 |
- |
2 |
X-69255425-G-C |
c.1142G>C |
p.G381A |
Missense |
8/8 |
- |
4 |
X-69255425-GG-AC |
c.1142_1143delinsAC |
p.G381D |
Missense |
8/8 |
- |
1 |
X-69255425-G-T |
c.1142G>T |
p.G381V |
Missense |
8/8 |
- |
3 |
X-69255427-G-A |
c.1144G>A |
p.A382T |
Missense |
8/8 |
- |
3 |
X-69255427-G-C |
c.1144G>C |
p.A382P |
Missense |
8/8 |
- |
1 |
X-69255427-GC-AA |
c.1144_1145delinsAA |
p.A382N |
Missense |
8/8 |
- |
1 |
X-69255427-GC-AT |
c.1144_1145delinsAT |
p.A382I |
Missense |
8/8 |
- |
1 |
X-69255427-GC-CA |
c.1144_1145delinsCA |
p.A382H |
Missense |
8/8 |
- |
1 |
X-69255427-GCC-AAG |
c.1144_1146delinsAAG |
p.A382K |
Missense |
8/8 |
- |
1 |
X-69255427-GCC-ATG |
c.1144_1146delinsATG |
p.A382M |
Missense |
8/8 |
- |
1 |
X-69255427-GCC-CAA |
c.1144_1146delinsCAA |
p.A382Q |
Missense |
8/8 |
- |
1 |
X-69255427-GC-CG |
c.1144_1145delinsCG |
p.A382R |
Missense |
8/8 |
- |
1 |
X-69255427-GC-CT |
c.1144_1145delinsCT |
p.A382L |
Missense |
8/8 |
- |
1 |
X-69255427-GCC-TGG |
c.1144_1146delinsTGG |
p.A382W |
Missense |
8/8 |
- |
1 |
X-69255427-GC-TA |
c.1144_1145delinsTA |
p.A382Y |
Missense |
8/8 |
- |
1 |
X-69255427-GC-TG |
c.1144_1145delinsTG |
p.A382C |
Missense |
8/8 |
- |
1 |
X-69255427-GC-TT |
c.1144_1145delinsTT |
p.A382F |
Missense |
8/8 |
- |
1 |
X-69255427-G-T |
c.1144G>T |
p.A382S |
Missense |
8/8 |
- |
1 |
X-69255428-C-A |
c.1145C>A |
p.A382D |
Missense |
8/8 |
- |
1 |
X-69255428-CC-AG |
c.1145_1146delinsAG |
p.A382E |
Missense |
8/8 |
- |
1 |
X-69255428-C-G |
c.1145C>G |
p.A382G |
Missense |
8/8 |
- |
1 |
X-69255428-C-T |
c.1145C>T |
p.A382V |
Missense |
8/8 |
- |
2 |
X-69255427-GCCAT-G |
c.1146_1149del |
p.I383Gfs*32 |
Frameshift |
8/8 |
- |
1 |
X-69255430-A-C |
c.1147A>C |
p.I383L |
Missense |
8/8 |
- |
1 |
X-69255430-A-G |
c.1147A>G |
p.I383V |
Missense |
8/8 |
- |
1 |
X-69255430-A-T |
c.1147A>T |
p.I383F |
Missense |
8/8 |
- |
1 |
X-69255430-AT-CA |
c.1147_1148delinsCA |
p.I383H |
Missense |
8/8 |
- |
1 |
X-69255430-AT-CC |
c.1147_1148delinsCC |
p.I383P |
Missense |
8/8 |
- |
1 |
X-69255430-ATC-CAA |
c.1147_1149delinsCAA |
p.I383Q |
Missense |
8/8 |
- |
1 |
X-69255430-ATC-GAG |
c.1147_1149delinsGAG |
p.I383E |
Missense |
8/8 |
- |
1 |
X-69255430-ATC-TGG |
c.1147_1149delinsTGG |
p.I383W |
Missense |
8/8 |
- |
1 |
X-69255430-AT-GA |
c.1147_1148delinsGA |
p.I383D |
Missense |
8/8 |
- |
1 |
X-69255430-AT-GC |
c.1147_1148delinsGC |
p.I383A |
Missense |
8/8 |
- |
1 |
X-69255430-AT-GG |
c.1147_1148delinsGG |
p.I383G |
Missense |
8/8 |
- |
1 |
X-69255430-AT-TA |
c.1147_1148delinsTA |
p.I383Y |
Missense |
8/8 |
- |
1 |
X-69255430-AT-TG |
c.1147_1148delinsTG |
p.I383C |
Missense |
8/8 |
- |
1 |
X-69255431-T-A |
c.1148T>A |
p.I383N |
Missense |
8/8 |
- |
1 |
X-69255431-T-C |
c.1148T>C |
p.I383T |
Missense |
8/8 |
- |
1 |
X-69255431-TC-AG |
c.1148_1149delinsAG |
p.I383K |
Missense |
8/8 |
- |
1 |
X-69255431-TC-GG |
c.1148_1149delinsGG |
p.I383R |
Missense |
8/8 |
- |
1 |
X-69255431-T-G |
c.1148T>G |
p.I383S |
Missense |
8/8 |
- |
1 |
X-69255432-C-G |
c.1149C>G |
p.I383M |
Missense |
8/8 |
- |
1 |
X-69255433-A-G |
c.1150A>G |
p.R384G |
Missense |
8/8 |
- |
1 |
X-69255433-AG-CA |
c.1150_1151delinsCA |
p.R384Q |
Missense |
8/8 |
- |
1 |
X-69255433-AG-CC |
c.1150_1151delinsCC |
p.R384P |
Missense |
8/8 |
- |
1 |
X-69255433-AG-CT |
c.1150_1151inv |
p.R384L |
Missense |
8/8 |
- |
1 |
X-69255433-AG-GA |
c.1150_1151delinsGA |
p.R384E |
Missense |
8/8 |
- |
1 |
X-69255433-AG-GC |
c.1150_1151delinsGC |
p.R384A |
Missense |
8/8 |
- |
1 |
X-69255433-AGG-CAT |
c.1150_1152delinsCAT |
p.R384H |
Missense |
8/8 |
- |
1 |
X-69255433-AGG-GAC |
c.1150_1152delinsGAC |
p.R384D |
Missense |
8/8 |
- |
1 |
X-69255433-AG-GT |
c.1150_1151delinsGT |
p.R384V |
Missense |
8/8 |
- |
1 |
X-69255433-AGG-TAT |
c.1150_1152delinsTAT |
p.R384Y |
Missense |
8/8 |
- |
1 |
X-69255433-AGG-TGT |
c.1150_1152delinsTGT |
p.R384C |
Missense |
8/8 |
- |
1 |
X-69255433-AGG-TTT |
c.1150_1152delinsTTT |
p.R384F |
Missense |
8/8 |
- |
1 |
X-69255433-A-T |
c.1150A>T |
p.R384W |
Missense |
8/8 |
- |
1 |
X-69255434-G-A |
c.1151G>A |
p.R384K |
Missense |
8/8 |
- |
1 |
X-69255434-G-C |
c.1151G>C |
p.R384T |
Missense |
8/8 |
- |
1 |
X-69255434-GG-AC |
c.1151_1152delinsAC |
p.R384N |
Missense |
8/8 |
- |
1 |
X-69255434-GG-TC |
c.1151_1152delinsTC |
p.R384I |
Missense |
8/8 |
- |
1 |
X-69255434-G-T |
c.1151G>T |
p.R384M |
Missense |
8/8 |
- |
1 |
X-69255435-G-C |
c.1152G>C |
p.R384S |
Missense |
8/8 |
- |
3 |
X-69255435-G-T |
c.1152G>T |
p.R384S |
Missense |
8/8 |
- |
3 |
X-69255436-C-A |
c.1153C>A |
p.L385M |
Missense |
8/8 |
- |
1 |
X-69255436-C-G |
c.1153C>G |
p.L385V |
Missense |
8/8 |
- |
1 |
X-69255436-CT-AA |
c.1153_1154delinsAA |
p.L385K |
Missense |
8/8 |
- |
1 |
X-69255436-CT-AC |
c.1153_1154delinsAC |
p.L385T |
Missense |
8/8 |
- |
1 |
X-69255436-CT-GA |
c.1153_1154delinsGA |
p.L385E |
Missense |
8/8 |
- |
1 |
X-69255436-CTG-AAC |
c.1153_1155delinsAAC |
p.L385N |
Missense |
8/8 |
- |
1 |
X-69255436-CTG-ATC |
c.1153_1155delinsATC |
p.L385I |
Missense |
8/8 |
- |
1 |
X-69255436-CT-GC |
c.1153_1154delinsGC |
p.L385A |
Missense |
8/8 |
- |
1 |
X-69255436-CT-GG |
c.1153_1154delinsGG |
p.L385G |
Missense |
8/8 |
- |
1 |
X-69255436-CTG-GAC |
c.1153_1155delinsGAC |
p.L385D |
Missense |
8/8 |
- |
1 |
X-69255436-CTG-TAT |
c.1153_1155delinsTAT |
p.L385Y |
Missense |
8/8 |
- |
1 |
X-69255436-CTG-TGT |
c.1153_1155delinsTGT |
p.L385C |
Missense |
8/8 |
- |
1 |
X-69255436-CTG-TTT |
c.1153_1155delinsTTT |
p.L385F |
Missense |
8/8 |
- |
1 |
X-69255436-CT-TC |
c.1153_1154delinsTC |
p.L385S |
Missense |
8/8 |
- |
1 |
X-69255436-CT-TG |
c.1153_1154delinsTG |
p.L385W |
Missense |
8/8 |
- |
1 |
X-69255437-T-A |
c.1154T>A |
p.L385Q |
Missense |
8/8 |
- |
1 |
X-69255437-T-C |
c.1154T>C |
p.L385P |
Missense |
8/8 |
- |
2 |
X-69255437-T-G |
c.1154T>G |
p.L385R |
Missense |
8/8 |
- |
1 |
X-69255437-TG-AT |
c.1154_1155delinsAT |
p.L385H |
Missense |
8/8 |
- |
1 |
X-69255438-G-A |
c.1155G>A |
p.L385= |
Synonymous |
8/8 |
- |
2 |
X-69255439-G-T |
c.1156G>T |
p.G386C |
Missense |
8/8 |
- |
1 |
X-69255445-G-T |
c.1162G>T |
p.A388S |
Missense |
8/8 |
- |
2 |
X-69255445-GC-G |
c.1166del |
p.P389Lfs*27 |
Frameshift |
8/8 |
- |
1 |
X-69255449-C-T |
c.1166C>T |
p.P389L |
Missense |
8/8 |
- |
2 |
X-69255450-T-TC |
c.1167_1168insC |
p.A390Rfs*55 |
Frameshift |
8/8 |
- |
1 |
X-69255451-G-A |
c.1168G>A |
p.A390T |
Missense |
8/8 |
- |
1 |
X-69255452-C-A |
c.1169C>A |
p.A390E |
Missense |
8/8 |
- |
1 |
X-69255452-C-T |
c.1169C>T |
p.A390V |
Missense |
8/8 |
- |
1 |
X-69255452-GC-G |
c.1169del |
p.A390Dfs*26 |
Frameshift |
8/8 |
- |
1 |
X-69255457-T-C |
c.1174T>C |
p.*392Qext*29 |
Missense |
8/8 |
- |
1 |
X-69257972-G-C |
c.*2513G>C |
- |
3-UTRSNV |
8/8 |
- |
1 |
X-69258515-T-G |
c.*3056T>G |
- |
3-UTRSNV |
8/8 |
- |
3 |
X-69259278-G-T |
c.*3819G>T |
- |
3-UTRSNV |
8/8 |
- |
1 |