6-46655717-G-A |
c.-149G>A |
- |
5-UTRSNV |
1/4 |
- |
1 |
6-46655730-G-T |
c.-136G>T |
- |
5-UTRSNV |
1/4 |
- |
1 |
6-46655862-C-T |
c.-4C>T |
- |
5-UTRSNV |
1/4 |
- |
1 |
6-46655871-C-G |
c.6C>G |
p.C2W |
Missense |
1/4 |
- |
1 |
6-46655873-CG-TT |
c.8_9delinsTT |
p.S3F |
Missense |
1/4 |
- |
1 |
6-46655873-C-T |
c.8C>T |
p.S3L |
Missense |
1/4 |
- |
1 |
6-46655876-C-T |
c.11C>T |
p.T4M |
Missense |
1/4 |
- |
5 |
6-46655877-G-A |
c.12G>A |
p.T4= |
Synonymous |
1/4 |
- |
2 |
6-46655877-G-C |
c.12G>C |
p.T4= |
Synonymous |
1/4 |
- |
1 |
6-46655877-G-T |
c.12G>T |
p.T4= |
Synonymous |
1/4 |
- |
1 |
6-46655878-C-G |
c.13C>G |
p.P5A |
Missense |
1/4 |
- |
1 |
6-46655878-C-T |
c.13C>T |
p.P5S |
Missense |
1/4 |
- |
4 |
6-46655880-C-A |
c.15C>A |
p.P5= |
Synonymous |
1/4 |
- |
2 |
6-46655880-C-G |
c.15C>G |
p.P5= |
Synonymous |
1/4 |
- |
2 |
6-46655880-C-T |
c.15C>T |
p.P5= |
Synonymous |
1/4 |
- |
2 |
6-46655881-G-A |
c.16G>A |
p.G6R |
Missense |
1/4 |
- |
1 |
6-46655887-C-T |
c.22C>T |
p.P8S |
Missense |
1/4 |
- |
1 |
6-46655888-C-A |
c.23C>A |
p.P8Q |
Missense |
1/4 |
- |
1 |
6-46655890-G-T |
c.25G>T |
p.A9S |
Missense |
1/4 |
- |
1 |
6-46655891-C-T |
c.26C>T |
p.A9V |
Missense |
1/4 |
- |
2 |
6-46655892-G-A |
c.27G>A |
p.A9= |
Synonymous |
1/4 |
- |
1 |
6-46655892-G-C |
c.27G>C |
p.A9= |
Synonymous |
1/4 |
- |
1 |
6-46655892-G-T |
c.27G>T |
p.A9= |
Synonymous |
1/4 |
- |
1 |
6-46655895-G-A |
c.30G>A |
p.P10= |
Synonymous |
1/4 |
- |
1 |
6-46655895-G-C |
c.30G>C |
p.P10= |
Synonymous |
1/4 |
- |
1 |
6-46655895-G-T |
c.30G>T |
p.P10= |
Synonymous |
1/4 |
- |
1 |
6-46655897-G-A |
c.32G>A |
p.G11E |
Missense |
1/4 |
- |
2 |
6-46655897-G-C |
c.32G>C |
p.G11A |
Missense |
1/4 |
- |
1 |
6-46655897-G-T |
c.32G>T |
p.G11V |
Missense |
1/4 |
- |
3 |
6-46655899-G-T |
c.34G>T |
p.A12S |
Missense |
1/4 |
- |
1 |
6-46655900-C-T |
c.35C>T |
p.A12V |
Missense |
1/4 |
- |
1 |
6-46655903-C-T |
c.38C>T |
p.S13L |
Missense |
1/4 |
- |
2 |
6-46655908-GC-CA |
c.43_44delinsCA |
p.A15H |
Missense |
1/4 |
- |
1 |
6-46655908-GCC-TAA |
c.43_45delinsTAA |
p.A15* |
Nonsense |
1/4 |
- |
1 |
6-46655909-C-T |
c.44C>T |
p.A15V |
Missense |
1/4 |
- |
2 |
6-46655911-C-T |
c.46C>T |
p.L16= |
Synonymous |
1/4 |
- |
1 |
6-46655915-G-A |
c.50G>A |
p.R17Q |
Missense |
1/4 |
- |
1 |
6-46655917-G-C |
c.52G>C |
p.V18L |
Missense |
1/4 |
- |
1 |
6-46655917-G-T |
c.52G>T |
p.V18L |
Missense |
1/4 |
- |
1 |
6-46655921-C-G |
c.56C>G |
p.S19C |
Missense |
1/4 |
- |
1 |
6-46655929-G-C |
c.64G>C |
p.D22H |
Missense |
1/4 |
- |
2 |
6-46655932-GTG-TTT |
c.67_69delinsTTT |
p.V23F |
Missense |
1/4 |
- |
2 |
6-46655938-C-T |
c.73C>T |
p.P25S |
Missense |
1/4 |
- |
1 |
6-46655940-C-T |
c.75C>T |
p.P25= |
Synonymous |
1/4 |
- |
2 |
6-46655941-G-C |
c.76G>C |
p.D26H |
Missense |
1/4 |
- |
1 |
6-46655942-A-T |
c.77A>T |
p.D26V |
Missense |
1/4 |
- |
1 |
6-46655943-AT-A |
c.78del |
p.D26Efs*2 |
Frameshift |
1/4 |
- |
1 |
6-46655942-ATGTGATCCCGGTGCAGCTG-A |
c.80_98del |
p.V27Gfs*14 |
Frameshift |
1/4 |
- |
1 |
6-46655950-C-T |
c.85C>T |
p.P29S |
Missense |
1/4 |
- |
1 |
6-46655951-C-T |
c.86C>T |
p.P29L |
Missense |
1/4 |
- |
1 |
6-46655952-G-A |
c.87G>A |
p.P29= |
Synonymous |
1/4 |
- |
1 |
6-46655952-G-C |
c.87G>C |
p.P29= |
Synonymous |
1/4 |
- |
1 |
6-46655952-G-T |
c.87G>T |
p.P29= |
Synonymous |
1/4 |
- |
1 |
6-46655963-G-A |
c.98G>A |
p.W33* |
Nonsense |
1/4 |
- |
1 |
6-46655964-G-A |
c.99G>A |
p.W33* |
Nonsense |
1/4 |
- |
1 |
6-46655960-T-TGTGGGGGCTG |
c.101_110dup |
p.E38Afs*125 |
Frameshift |
1/4 |
- |
1 |
6-46655971-G-A |
c.106G>A |
p.V36M |
Missense |
1/4 |
- |
1 |
6-46655975-G-A |
c.110G>A |
p.G37D |
Missense |
1/4 |
- |
1 |
6-46655983-C-A |
c.118C>A |
p.R40= |
Synonymous |
1/4 |
- |
1 |
6-46655983-CGG-AGC |
c.118_120delinsAGC |
p.R40S |
Missense |
1/4 |
- |
2 |
6-46655985-G-A |
c.120G>A |
p.R40= |
Synonymous |
1/4 |
- |
1 |
6-46655985-G-C |
c.120G>C |
p.R40= |
Synonymous |
1/4 |
- |
1 |
6-46655985-G-T |
c.120G>T |
p.R40= |
Synonymous |
1/4 |
- |
2 |
6-46655987-G-A |
c.122G>A |
p.G41D |
Missense |
1/4 |
- |
1 |
6-46655988-C-A |
c.123C>A |
p.G41= |
Synonymous |
1/4 |
- |
1 |
6-46655988-C-G |
c.123C>G |
p.G41= |
Synonymous |
1/4 |
- |
1 |
6-46655988-C-T |
c.123C>T |
p.G41= |
Synonymous |
1/4 |
- |
3 |
6-46655995-C-G |
c.130C>G |
p.L44V |
Missense |
1/4 |
- |
1 |
6-46655999-G-A |
c.134G>A |
p.R45Q |
Missense |
1/4 |
- |
1 |
6-46656001-C-G |
c.136C>G |
p.L46V |
Missense |
1/4 |
- |
1 |
6-46656002-T-C |
c.137T>C |
p.L46P |
Missense |
1/4 |
- |
1 |
6-46656001-C-T |
c.136C>T |
p.L46= |
Synonymous |
1/4 |
- |
1 |
6-46656003-G-A |
c.138G>A |
p.L46= |
Synonymous |
1/4 |
- |
1 |
6-46656003-G-C |
c.138G>C |
p.L46= |
Synonymous |
1/4 |
- |
1 |
6-46656003-G-T |
c.138G>T |
p.L46= |
Synonymous |
1/4 |
- |
1 |
6-46656005-G-T |
c.140G>T |
p.S47I |
Missense |
1/4 |
- |
1 |
6-46656007-CG-AA |
c.142_143delinsAA |
p.R48K |
Missense |
1/4 |
- |
1 |
6-46656010-G-A |
c.145G>A |
p.E49K |
Missense |
1/4 |
- |
2 |
6-46656016-C-A |
c.151C>A |
p.Q51K |
Missense |
1/4 |
- |
1 |
6-46656022-G-A |
c.157G>A |
p.A53T |
Missense |
1/4 |
- |
1 |
6-46656025-G-A |
c.160G>A |
p.A54T |
Missense |
1/4 |
- |
3 |
6-46656025-G-T |
c.160G>T |
p.A54S |
Missense |
1/4 |
- |
1 |
6-46656026-C-G |
c.161C>G |
p.A54G |
Missense |
1/4 |
- |
1 |
6-46656026-C-T |
c.161C>T |
p.A54V |
Missense |
1/4 |
- |
3 |
6-46656027-G-A |
c.162G>A |
p.A54= |
Synonymous |
1/4 |
- |
3 |
6-46656027-G-C |
c.162G>C |
p.A54= |
Synonymous |
1/4 |
- |
1 |
6-46656027-G-T |
c.162G>T |
p.A54= |
Synonymous |
1/4 |
- |
1 |
6-46656028-G-A |
c.163G>A |
p.A55T |
Missense |
1/4 |
- |
1 |
6-46656029-C-T |
c.164C>T |
p.A55V |
Missense |
1/4 |
- |
1 |
6-46656034-C-T |
c.169C>T |
p.R57C |
Missense |
1/4 |
- |
1 |
6-46656036-C-A |
c.171C>A |
p.R57= |
Synonymous |
1/4 |
- |
1 |
6-46656036-C-G |
c.171C>G |
p.R57= |
Synonymous |
1/4 |
- |
1 |
6-46656036-C-T |
c.171C>T |
p.R57= |
Synonymous |
1/4 |
- |
1 |
6-46656038-G-A |
c.173G>A |
p.G58D |
Missense |
1/4 |
- |
1 |
6-46656044-G-T |
c.179G>T |
p.W60L |
Missense |
1/4 |
- |
1 |
6-46656045-G-A |
c.180G>A |
p.W60* |
Nonsense |
1/4 |
- |
1 |
6-46656045-G-C |
c.180G>C |
p.W60C |
Missense |
1/4 |
- |
2 |
6-46656045-G-T |
c.180G>T |
p.W60C |
Missense |
1/4 |
- |
2 |
6-46656046-G-A |
c.181G>A |
p.A61T |
Missense |
1/4 |
- |
1 |
6-46656046-G-T |
c.181G>T |
p.A61S |
Missense |
1/4 |
- |
1 |
6-46656047-C-T |
c.182C>T |
p.A61V |
Missense |
1/4 |
- |
1 |
6-46656053-G-T |
c.188G>T |
p.G63V |
Missense |
1/4 |
- |
1 |
6-46656058-G-A |
c.193G>A |
p.A65T |
Missense |
1/4 |
- |
1 |
6-46656062-C-G |
c.197C>G |
p.S66W |
Missense |
1/4 |
- |
2 |
6-46656065-C-A |
c.200C>A |
p.A67D |
Missense |
1/4 |
- |
1 |
6-46656065-C-T |
c.200C>T |
p.A67V |
Missense |
1/4 |
- |
2 |
6-46656067-T-C |
c.202T>C |
p.S68P |
Missense |
1/4 |
- |
1 |
6-46656068-CG-GT |
c.203_204delinsGT |
p.S68C |
Missense |
1/4 |
- |
1 |
6-46656069-G-A |
c.204G>A |
p.S68= |
Synonymous |
1/4 |
- |
1 |
6-46656069-G-C |
c.204G>C |
p.S68= |
Synonymous |
1/4 |
- |
1 |
6-46656069-G-T |
c.204G>T |
p.S68= |
Synonymous |
1/4 |
- |
1 |
6-46656070-C-T |
c.205C>T |
p.P69S |
Missense |
1/4 |
- |
1 |
6-46656072-C-A |
c.207C>A |
p.P69= |
Synonymous |
1/4 |
- |
1 |
6-46656074-G-C |
c.209G>C |
p.G70A |
Missense |
1/4 |
- |
1 |
6-46656075-C-A |
c.210C>A |
p.G70= |
Synonymous |
1/4 |
- |
1 |
6-46656075-C-G |
c.210C>G |
p.G70= |
Synonymous |
1/4 |
- |
1 |
6-46656075-C-T |
c.210C>T |
p.G70= |
Synonymous |
1/4 |
- |
1 |
6-46656076-G-A |
c.211G>A |
p.E71K |
Missense |
1/4 |
- |
2 |
6-46656082-T-C |
c.217T>C |
p.C73R |
Missense |
1/4 |
- |
1 |
6-46656082-TG-AC |
c.217_218delinsAC |
p.C73T |
Missense |
1/4 |
- |
1 |
6-46656099-G-A |
c.234G>A |
p.G78= |
Synonymous |
1/4 |
- |
1 |
6-46656099-G-C |
c.234G>C |
p.G78= |
Synonymous |
1/4 |
- |
1 |
6-46656099-G-T |
c.234G>T |
p.G78= |
Synonymous |
1/4 |
- |
1 |
6-46656102-T-C |
c.237T>C |
p.L79= |
Synonymous |
1/4 |
- |
1 |
6-46656103-T-A |
c.238T>A |
p.L80M |
Missense |
1/4 |
- |
1 |
6-46656105-G-A |
c.240G>A |
p.L80= |
Synonymous |
1/4 |
- |
1 |
6-46656107-G-A |
c.242G>A |
p.W81* |
Nonsense |
1/4 |
- |
1 |
6-46656109-C-T |
c.244C>T |
p.H82Y |
Missense |
1/4 |
- |
1 |
6-46656112-CGC-TGG |
c.247_249delinsTGG |
p.R83W |
Missense |
1/4 |
- |
1 |
6-46656113-G-A |
c.248G>A |
p.R83H |
Missense |
1/4 |
- |
1 |
6-46656113-GC-AA |
c.248_249delinsAA |
p.R83Q |
Missense |
1/4 |
- |
1 |
6-46656115-TG-GA |
c.250_251delinsGA |
p.C84D |
Missense |
1/4 |
- |
1 |
6-46656120-C-A |
c.255C>A |
p.R85= |
Synonymous |
1/4 |
- |
1 |
6-46656120-C-G |
c.255C>G |
p.R85= |
Synonymous |
1/4 |
- |
1 |
6-46656120-C-T |
c.255C>T |
p.R85= |
Synonymous |
1/4 |
- |
2 |
6-46656121-G-A |
c.256G>A |
p.V86M |
Missense |
1/4 |
- |
1 |
6-46656123-G-A |
c.258G>A |
p.V86= |
Synonymous |
1/4 |
- |
1 |
6-46656123-G-C |
c.258G>C |
p.V86= |
Synonymous |
1/4 |
- |
1 |
6-46656123-G-T |
c.258G>T |
p.V86= |
Synonymous |
1/4 |
- |
2 |
6-46656126-C-T |
c.261C>T |
p.V87= |
Synonymous |
1/4 |
- |
1 |
6-46656130-C-T |
c.265C>T |
p.R89W |
Missense |
1/4 |
- |
1 |
6-46656131-G-A |
c.266G>A |
p.R89Q |
Missense |
1/4 |
- |
1 |
6-46656136-G-T |
c.271G>T |
p.A91S |
Missense |
1/4 |
- |
1 |
6-46656141-G-C |
c.276G>C |
p.Q92H |
Missense |
1/4 |
- |
1 |
6-46656144-G-C |
c.279G>C |
p.E93D |
Missense |
1/4 |
- |
1 |
6-46656144-G-T |
c.279G>T |
p.E93D |
Missense |
1/4 |
- |
1 |
6-46656145-A-T |
c.280A>T |
p.S94C |
Missense |
1/4 |
- |
1 |
6-46656147-C-T |
c.282C>T |
p.S94= |
Synonymous |
1/4 |
- |
2 |
6-46656148-C-T |
c.283C>T |
p.R95C |
Missense |
1/4 |
- |
1 |
6-46656149-G-A |
c.284G>A |
p.R95H |
Missense |
1/4 |
- |
2 |
6-46656153-C-T |
c.288C>T |
p.V96= |
Synonymous |
1/4 |
- |
1 |
6-46656156-C-G |
c.291C>G |
p.F97L |
Missense |
1/4 |
- |
1 |
6-46656156-C-T |
c.291C>T |
p.F97= |
Synonymous |
1/4 |
- |
1 |
6-46656157-C-T |
c.292C>T |
p.L98= |
Synonymous |
1/4 |
- |
1 |
6-46656160-C-T |
c.295C>T |
p.L99= |
Synonymous |
1/4 |
- |
1 |
6-46656165-C-T |
c.300C>T |
p.D100= |
Synonymous |
1/4 |
- |
2 |
6-46656172-C-T |
c.307C>T |
p.R103C |
Missense |
1/4 |
- |
1 |
6-46656173-G-A |
c.308G>A |
p.R103H |
Missense |
1/4 |
- |
3 |
6-46656178-A-G |
c.313A>G |
p.I105V |
Missense |
1/4 |
- |
1 |
6-46656178-A-T |
c.313A>T |
p.I105F |
Missense |
1/4 |
- |
1 |
6-46656179-T-C |
c.314T>C |
p.I105T |
Missense |
1/4 |
- |
1 |
6-46656187-G-A |
c.322G>A |
p.G108R |
Missense |
1/4 |
- |
1 |
6-46656187-G-C |
c.322G>C |
p.G108R |
Missense |
1/4 |
- |
1 |
6-46656188-G-A |
c.323G>A |
p.G108E |
Missense |
1/4 |
- |
1 |
6-46656188-GA-AC |
c.323_324delinsAC |
p.G108D |
Missense |
1/4 |
- |
1 |
6-46656190-G-C |
c.325G>C |
p.A109P |
Missense |
1/4 |
- |
1 |
6-46656194-G-C |
c.329G>C |
p.G110A |
Missense |
1/4 |
- |
1 |
6-46656199-C-A |
c.334C>A |
p.L112M |
Missense |
1/4 |
- |
1 |
6-46656204-G-A |
c.339G>A |
p.A113= |
Synonymous |
1/4 |
- |
1 |
6-46656206-C-A |
c.341C>A |
p.P114H |
Missense |
1/4 |
- |
1 |
6-46656208-G-A |
c.343G>A |
p.G115R |
Missense |
1/4 |
- |
1 |
6-46656210-G-A |
c.345G>A |
p.G115= |
Synonymous |
1/4 |
- |
1 |
6-46656211-CGC-TGG |
c.346_348delinsTGG |
p.R116W |
Missense |
1/4 |
- |
1 |
6-46656211-C-T |
c.346C>T |
p.R116C |
Missense |
1/4 |
- |
1 |
6-46656212-G-A |
c.347G>A |
p.R116H |
Missense |
1/4 |
- |
3 |
6-46656214-AG-CA |
c.349_350delinsCA |
p.R117Q |
Missense |
1/4 |
- |
1 |
6-46656215-G-T |
c.350G>T |
p.R117I |
Missense |
1/4 |
- |
1 |
6-46656217-G-A |
c.352G>A |
p.E118K |
Missense |
1/4 |
- |
1 |
6-46656219-G-C |
c.354G>C |
p.E118D |
Missense |
1/4 |
- |
1 |
6-46656228-T-C |
c.363T>C |
p.N121= |
Synonymous |
1/4 |
- |
1 |
6-46656229-T-G |
c.364T>G |
p.L122V |
Missense |
1/4 |
- |
1 |
6-46656232-C-T |
c.367C>T |
p.P123S |
Missense |
1/4 |
- |
1 |
6-46656235-TCG-AAC |
c.370_372delinsAAC |
p.S124N |
Missense |
1/4 |
- |
1 |
6-46656237-G-A |
c.372G>A |
p.S124= |
Synonymous |
1/4 |
- |
1 |
6-46656238-G-T |
c.373G>T |
p.E125* |
Nonsense |
1/4 |
- |
1 |
6-46656240-A-C |
c.375A>C |
p.E125D |
Missense |
1/4 |
- |
1 |
6-46656241-GTG-ATC |
c.376_378delinsATC |
p.V126I |
Missense |
1/4 |
- |
1 |
6-46656244-C-T |
c.379C>T |
p.L127= |
Synonymous |
1/4 |
- |
1 |
6-46656246-G-T |
c.381G>T |
p.L127= |
Synonymous |
1/4 |
- |
1 |
6-46656250-TG-AC |
c.385_386delinsAC |
p.C129T |
Missense |
1/4 |
- |
1 |
6-46656253-G-A |
c.388G>A |
p.V130M |
Missense |
1/4 |
- |
5 |
6-46656254-T-C |
c.389T>C |
p.V130A |
Missense |
1/4 |
- |
1 |
6-46656255-G-A |
c.390G>A |
p.V130= |
Synonymous |
1/4 |
- |
1 |
6-46656255-G-C |
c.390G>C |
p.V130= |
Synonymous |
1/4 |
- |
1 |
6-46656255-G-T |
c.390G>T |
p.V130= |
Synonymous |
1/4 |
- |
1 |
6-46656256-C-T |
c.391C>T |
p.L131= |
Synonymous |
1/4 |
- |
1 |
6-46656258-A-C |
c.393A>C |
p.L131= |
Synonymous |
1/4 |
- |
1 |
6-46656258-A-G |
c.393A>G |
p.L131= |
Synonymous |
1/4 |
- |
1 |
6-46656258-A-T |
c.393A>T |
p.L131= |
Synonymous |
1/4 |
- |
1 |
6-46656259-G-T |
c.394G>T |
p.A132S |
Missense |
1/4 |
- |
1 |
6-46656258-AGCG-A |
c.395_397del |
p.A132del |
InFrameDeletion |
1/4 |
- |
1 |
6-46656262-G-A |
c.397G>A |
p.G133S |
Missense |
1/4 |
- |
1 |
6-46656263-G-T |
c.398G>T |
p.G133V |
Missense |
1/4 |
- |
1 |
6-46656265-CT-TC |
c.400_401delinsTC |
p.L134S |
Missense |
1/4 |
- |
1 |
6-46656270-G-T |
c.405G>T |
p.V135= |
Synonymous |
1/4 |
- |
1 |
6-46656272-C-T |
c.407C>T |
p.P136L |
Missense |
1/4 |
- |
2 |
6-46656273-G-A |
c.408G>A |
p.P136= |
Synonymous |
1/4 |
- |
1 |
6-46656273-G-C |
c.408G>C |
p.P136= |
Synonymous |
1/4 |
- |
1 |
6-46656273-G-T |
c.408G>T |
p.P136= |
Synonymous |
1/4 |
- |
1 |
6-46656274-G-A |
c.409G>A |
p.A137T |
Missense |
1/4 |
- |
1 |
6-46656276-A-C |
c.411A>C |
p.A137= |
Synonymous |
1/4 |
- |
1 |
6-46656276-A-G |
c.411A>G |
p.A137= |
Synonymous |
1/4 |
- |
1 |
6-46656276-A-T |
c.411A>T |
p.A137= |
Synonymous |
1/4 |
- |
1 |
6-46656280-T-A |
c.415T>A |
p.C139S |
Missense |
1/4 |
- |
1 |
6-46656281-G-C |
c.416G>C |
p.C139S |
Missense |
1/4 |
- |
1 |
6-46656282-C-T |
c.417C>T |
p.C139= |
Synonymous |
1/4 |
- |
3 |
6-46656284-G-T |
c.419G>T |
p.G140V |
Missense |
1/4 |
- |
1 |
6-46656285-C-A |
c.420C>A |
p.G140= |
Synonymous |
1/4 |
- |
1 |
6-46656285-C-G |
c.420C>G |
p.G140= |
Synonymous |
1/4 |
- |
1 |
6-46656285-C-T |
c.420C>T |
p.G140= |
Synonymous |
1/4 |
- |
1 |
6-46656286-G-A |
c.421G>A |
p.A141T |
Missense |
1/4 |
- |
1 |
6-46656286-G-C |
c.421G>C |
p.A141P |
Missense |
1/4 |
- |
1 |
6-46656287-C-A |
c.422C>A |
p.A141E |
Missense |
1/4 |
- |
2 |
6-46656287-C-T |
c.422C>T |
p.A141V |
Missense |
1/4 |
- |
1 |
6-46656288-G-A |
c.423G>A |
p.A141= |
Synonymous |
1/4 |
- |
1 |
6-46656288-G-C |
c.423G>C |
p.A141= |
Synonymous |
1/4 |
- |
1 |
6-46656288-G-T |
c.423G>T |
p.A141= |
Synonymous |
1/4 |
- |
2 |
6-46656289-G-A |
c.424G>A |
p.G142S |
Missense |
1/4 |
- |
2 |
6-46656289-G-C |
c.424G>C |
p.G142R |
Missense |
1/4 |
- |
1 |
6-46656297-C-A |
c.432C>A |
p.G144= |
Synonymous |
1/4 |
- |
1 |
6-46656297-C-G |
c.432C>G |
p.G144= |
Synonymous |
1/4 |
- |
1 |
6-46656297-C-T |
c.432C>T |
p.G144= |
Synonymous |
1/4 |
- |
2 |
6-46656298-G-A |
c.433G>A |
p.E145K |
Missense |
1/4 |
- |
2 |
6-46656299-A-G |
c.434A>G |
p.E145G |
Missense |
1/4 |
- |
1 |
6-46656302-C-T |
c.437C>T |
p.P146L |
Missense |
1/4 |
- |
2 |
6-46656303-G-A |
c.438G>A |
p.P146= |
Synonymous |
1/4 |
- |
1 |
6-46656304-C-T |
c.439C>T |
p.P147S |
Missense |
1/4 |
- |
1 |
6-46656305-C-T |
c.440C>T |
p.P147L |
Missense |
1/4 |
- |
2 |
6-46656308-A-G |
c.443A>G |
p.Q148R |
Missense |
1/4 |
- |
1 |
6-46656309-G-A |
c.444G>A |
p.Q148= |
Synonymous |
1/4 |
- |
1 |
6-46656309-G-C |
c.444G>C |
p.Q148H |
Missense |
1/4 |
- |
1 |
6-46656309-G-T |
c.444G>T |
p.Q148H |
Missense |
1/4 |
- |
1 |
6-46656310-C-A |
c.445C>A |
p.H149N |
Missense |
1/4 |
- |
1 |
6-46656310-C-T |
c.445C>T |
p.H149Y |
Missense |
1/4 |
- |
1 |
6-46656315-G-GC |
c.453dup |
p.A152Rfs*8 |
Frameshift |
1/4 |
- |
1 |
6-46656319-G-A |
c.454G>A |
p.A152T |
Missense |
1/4 |
- |
2 |
6-46656320-C-T |
c.455C>T |
p.A152V |
Missense |
1/4 |
- |
1 |
6-46656321-C-T |
c.456C>T |
p.A152= |
Synonymous |
1/4 |
- |
1 |
6-46656324-C-T |
c.459C>T |
p.D153= |
Synonymous |
1/4 |
- |
1 |
6-46656331-G-T |
c.466G>T |
p.D156Y |
Missense |
1/4 |
- |
1 |
6-46656333-C-T |
c.468C>T |
p.D156= |
Synonymous |
1/4 |
- |
1 |
6-46656336-C-T |
c.471C>T |
p.F157= |
Synonymous |
1/4 |
- |
4 |
6-46656337-C-T |
c.472C>T |
p.L158F |
Missense |
1/4 |
- |
2 |
6-46656343-A-G |
c.478A>G |
p.N160D |
Missense |
1/4 |
- |
1 |
6-46656349-C-G |
c.484C>G |
p.Q162E |
Missense |
1/4 |
- |
1 |
6-46656349-C-T |
c.484C>T |
p.Q162* |
Nonsense |
1/4 |
- |
3 |
6-46656356-A-G |
c.491A>G |
p.K164R |
Missense |
1/4 |
- |
1 |
6-46656357-G-T |
c.492G>T |
p.K164N |
Missense |
1/4 |
- |
1 |
6-46656358-G-A |
c.493G>A |
p.E165K |
Missense |
1/4 |
- |
1 |
6-46656364-C-T |
c.499C>T |
p.H167Y |
Missense |
1/4 |
- |
1 |
6-46656366-AC-A |
c.501del |
p.H167Qfs*84 |
Frameshift |
1/4 |
- |
1 |
6-46656366-C-T |
c.501C>T |
p.H167= |
Synonymous |
1/4 |
- |
1 |
6-46656367-G-A |
c.502G>A |
p.G168R |
Missense |
1/4 |
- |
3 |
6-46656367-G-C |
c.502G>C |
p.G168R |
Missense |
1/4 |
- |
2 |
6-46656367-G-T |
c.502G>T |
p.G168W |
Missense |
1/4 |
- |
1 |
6-46656368-G-T |
c.503G>T |
p.G168V |
Missense |
1/4 |
- |
1 |
6-46656370-T-C |
c.505T>C |
p.C169R |
Missense |
1/4 |
- |
1 |
6-46656373-G-A |
c.508G>A |
p.V170I |
Missense |
1/4 |
- |
3 |
6-46656377-T-C |
c.512T>C |
p.L171P |
Missense |
1/4 |
- |
1 |
6-46656378-G-A |
c.513G>A |
p.L171= |
Synonymous |
1/4 |
- |
1 |
6-46656379-G-A |
c.514G>A |
p.D172N |
Missense |
1/4 |
- |
1 |
6-46656384-G-A |
c.519G>A |
p.V173= |
Synonymous |
1/4 |
- |
2 |
6-46656384-G-C |
c.519G>C |
p.V173= |
Synonymous |
1/4 |
- |
1 |
6-46656384-G-T |
c.519G>T |
p.V173= |
Synonymous |
1/4 |
- |
2 |
6-46656385-C-A |
c.520C>A |
p.L174M |
Missense |
1/4 |
- |
1 |
6-46656387-G-A |
c.522G>A |
p.L174= |
Synonymous |
1/4 |
- |
2 |
6-46656388-C-T |
c.523C>T |
p.L175= |
Synonymous |
1/4 |
- |
2 |
6-46656390-G-A |
c.525G>A |
p.L175= |
Synonymous |
1/4 |
- |
1 |
6-46656390-G-C |
c.525G>C |
p.L175= |
Synonymous |
1/4 |
- |
1 |
6-46656390-G-T |
c.525G>T |
p.L175= |
Synonymous |
1/4 |
- |
1 |
6-46656394-C-T |
c.529C>T |
p.H177Y |
Missense |
1/4 |
- |
2 |
6-46656397-CGC-TGG |
c.532_534delinsTGG |
p.R178W |
Missense |
1/4 |
- |
1 |
6-46656397-C-T |
c.532C>T |
p.R178C |
Missense |
1/4 |
- |
6 |
6-46656398-G-A |
c.533G>A |
p.R178H |
Missense |
1/4 |
- |
1 |
6-46656399-C-G |
c.534C>G |
p.R178= |
Synonymous |
1/4 |
- |
1 |
6-46656400-CTG-TTT |
c.535_537delinsTTT |
p.L179F |
Missense |
1/4 |
- |
1 |
6-46656404-T-C |
c.539T>C |
p.V180A |
Missense |
1/4 |
- |
1 |
6-46656406-C-T |
c.541C>T |
p.L181F |
Missense |
1/4 |
- |
1 |
6-46656410-T-C |
c.545T>C |
p.L182P |
Missense |
1/4 |
- |
1 |
6-46656412-G-C |
c.547G>C |
p.E183Q |
Missense |
1/4 |
- |
1 |
6-46656415-G-A |
c.550G>A |
p.V184M |
Missense |
1/4 |
- |
2 |
6-46656421-G-C |
c.556G>C |
p.D186H |
Missense |
1/4 |
- |
1 |
6-46656435-G-C |
c.570G>C |
p.Q190H |
Missense |
1/4 |
- |
1 |
6-46656435-G-T |
c.570G>T |
p.Q190H |
Missense |
1/4 |
- |
1 |
6-46656439-C-A |
c.574C>A |
p.R192= |
Synonymous |
1/4 |
- |
1 |
6-46656439-C-T |
c.574C>T |
p.R192W |
Missense |
1/4 |
- |
1 |
6-46656441-G-A |
c.576G>A |
p.R192= |
Synonymous |
1/4 |
- |
1 |
6-46656441-G-C |
c.576G>C |
p.R192= |
Synonymous |
1/4 |
- |
1 |
6-46656441-G-T |
c.576G>T |
p.R192= |
Synonymous |
1/4 |
- |
2 |
6-46656440-G-A |
c.575G>A |
p.R192Q |
Missense |
1/4 |
- |
4 |
6-46656440-G-C |
c.575G>C |
p.R192P |
Missense |
1/4 |
- |
1 |
6-46656442-G-A |
c.577G>A |
p.E193K |
Missense |
1/4 |
- |
1 |
6-46656442-G-T |
c.577G>T |
p.E193* |
Nonsense |
1/4 |
- |
2 |
6-46656450-C-A |
c.585C>A |
p.G195= |
Synonymous |
1/4 |
- |
1 |
6-46656450-C-G |
c.585C>G |
p.G195= |
Synonymous |
1/4 |
- |
1 |
6-46656450-C-T |
c.585C>T |
p.G195= |
Synonymous |
1/4 |
- |
1 |
6-46656451-C-A |
c.586C>A |
p.L196M |
Missense |
1/4 |
- |
1 |
6-46656455-C-A |
c.590C>A |
p.A197D |
Missense |
1/4 |
- |
3 |
6-46656457-C-A |
c.592C>A |
p.R198= |
Synonymous |
1/4 |
- |
2 |
6-46656457-C-T |
c.592C>T |
p.R198W |
Missense |
1/4 |
- |
5 |
6-46656459-G-A |
c.594G>A |
p.R198= |
Synonymous |
1/4 |
- |
3 |
6-46656459-G-C |
c.594G>C |
p.R198= |
Synonymous |
1/4 |
- |
2 |
6-46656459-G-T |
c.594G>T |
p.R198= |
Synonymous |
1/4 |
- |
2 |
6-46656458-G-A |
c.593G>A |
p.R198Q |
Missense |
1/4 |
- |
2 |
6-46656461-G-A |
c.596G>A |
p.R199Q |
Missense |
1/4 |
- |
1 |
6-46656460-C-CG |
c.598dup |
p.V200Gfs*20 |
Frameshift |
1/4 |
- |
1 |
6-46656464-T-C |
c.599T>C |
p.V200A |
Missense |
1/4 |
- |
1 |
6-46656464-T-G |
c.599T>G |
p.V200G |
Missense |
1/4 |
- |
4 |
6-46656465-G-T |
c.600G>T |
p.V200= |
Synonymous |
1/4 |
- |
1 |
6-46656466-C-G |
c.601C>G |
p.P201A |
Missense |
1/4 |
- |
1 |
6-46656467-C-G |
c.602C>G |
p.P201R |
Missense |
1/4 |
- |
1 |
6-46656469-G-A |
c.604G>A |
p.D202N |
Missense |
1/4 |
- |
2 |
6-46656470-A-G |
c.605A>G |
p.D202G |
Missense |
1/4 |
- |
1 |
6-46656470-A-AC |
c.606dup |
p.S203Qfs*17 |
Frameshift |
1/4 |
- |
1 |
6-46656472-AG-CC |
c.607_608delinsCC |
p.S203P |
Missense |
1/4 |
- |
1 |
6-46656472-AG-CT |
c.607_608inv |
p.S203L |
Missense |
1/4 |
- |
1 |
6-46656474-C-T |
c.609C>T |
p.S203= |
Synonymous |
1/4 |
- |
1 |
6-46656480-C-A |
c.615C>A |
p.F205L |
Missense |
1/4 |
- |
1 |
6-46656481-C-T |
c.616C>T |
p.R206C |
Missense |
1/4 |
- |
4 |
6-46656482-G-A |
c.617G>A |
p.R206H |
Missense |
1/4 |
- |
2 |
6-46656484-TC-GG |
c.619_620delinsGG |
p.S207G |
Missense |
1/4 |
- |
1 |
6-46656485-C-T |
c.620C>T |
p.S207L |
Missense |
1/4 |
- |
1 |
6-46656486-G-A |
c.621G>A |
p.S207= |
Synonymous |
1/4 |
- |
1 |
6-46656486-G-C |
c.621G>C |
p.S207= |
Synonymous |
1/4 |
- |
1 |
6-46656486-G-T |
c.621G>T |
p.S207= |
Synonymous |
1/4 |
- |
2 |
6-46656490-CT-TC |
c.625_626delinsTC |
p.L209S |
Missense |
1/4 |
- |
1 |
6-46656497-G-A |
c.632G>A |
p.R211H |
Missense |
1/4 |
- |
1 |
6-46656498-C-T |
c.633C>T |
p.R211= |
Synonymous |
1/4 |
- |
1 |
6-46656502-C-T |
c.637C>T |
p.L213F |
Missense |
1/4 |
- |
1 |
6-46656504-C-A |
c.639C>A |
p.L213= |
Synonymous |
1/4 |
- |
1 |
6-46656504-C-G |
c.639C>G |
p.L213= |
Synonymous |
1/4 |
- |
1 |
6-46656504-C-T |
c.639C>T |
p.L213= |
Synonymous |
1/4 |
- |
1 |
6-46656509-C-T |
c.644C>T |
p.A215V |
Missense |
1/4 |
- |
1 |
6-46656512-C-G |
c.647C>G |
p.A216G |
Missense |
1/4 |
- |
1 |
6-46656517-G-A |
c.652G>A |
p.A218T |
Missense |
1/4 |
- |
1 |
6-46656518-C-A |
c.653C>A |
p.A218D |
Missense |
1/4 |
- |
1 |
6-46656522-C-T |
c.657C>T |
p.S219= |
Synonymous |
1/4 |
- |
2 |
6-46656523-G-A |
c.658G>A |
p.V220M |
Missense |
1/4 |
- |
2 |
6-46656526-G-A |
c.661G>A |
p.G221S |
Missense |
1/4 |
- |
1 |
6-46656527-G-C |
c.662G>C |
p.G221A |
Missense |
1/4 |
- |
1 |
6-46656530-C-T |
c.665C>T |
p.S222F |
Missense |
1/4 |
- |
1 |
6-46656532-G-A |
c.667G>A |
p.G223R |
Missense |
1/4 |
- |
1 |
6-46656532-G-C |
c.667G>C |
p.G223R |
Missense |
1/4 |
- |
1 |
6-46656533-G-A |
c.668G>A |
p.G223E |
Missense |
1/4 |
- |
2 |
6-46656534-G-C |
c.669G>C |
p.G223= |
Synonymous |
1/4 |
- |
3 |
6-46656531-C-CG |
c.670dup |
p.V224Gfs*73 |
Frameshift |
1/4 |
- |
1 |
6-46656531-CG-C |
c.670del |
p.V224Sfs*27 |
Frameshift |
1/4 |
- |
1 |
6-46656537-C-T |
c.672C>T |
p.V224= |
Synonymous |
1/4 |
- |
1 |
6-46656539-C-A |
c.674C>A |
p.P225Q |
Missense |
1/4 |
- |
1 |
6-46656539-C-T |
c.674C>T |
p.P225L |
Missense |
1/4 |
- |
6 |
6-46656540-G-A |
c.675G>A |
p.P225= |
Synonymous |
1/4 |
- |
3 |
6-46656540-G-C |
c.675G>C |
p.P225= |
Synonymous |
1/4 |
- |
3 |
6-46656540-G-T |
c.675G>T |
p.P225= |
Synonymous |
1/4 |
- |
3 |
6-46656542-T-C |
c.677T>C |
p.V226A |
Missense |
1/4 |
- |
1 |
6-46656544-C-T |
c.679C>T |
p.L227F |
Missense |
1/4 |
- |
5 |
6-46656549-G-A |
c.684G>A |
p.S228= |
Synonymous |
1/4 |
- |
2 |
6-46656549-G-C |
c.684G>C |
p.S228= |
Synonymous |
1/4 |
- |
1 |
6-46656549-G-T |
c.684G>T |
p.S228= |
Synonymous |
1/4 |
- |
2 |
6-46656550-C-A |
c.685C>A |
p.R229= |
Synonymous |
1/4 |
- |
1 |
6-46656550-C-T |
c.685C>T |
p.R229* |
Nonsense |
1/4 |
- |
2 |
6-46656552-A-C |
c.687A>C |
p.R229= |
Synonymous |
1/4 |
- |
1 |
6-46656552-A-G |
c.687A>G |
p.R229= |
Synonymous |
1/4 |
- |
1 |
6-46656552-A-T |
c.687A>T |
p.R229= |
Synonymous |
1/4 |
- |
1 |
6-46656556-C-T |
c.691C>T |
p.P231S |
Missense |
1/4 |
- |
1 |
6-46656557-C-A |
c.692C>A |
p.P231Q |
Missense |
1/4 |
- |
2 |
6-46656557-C-G |
c.692C>G |
p.P231R |
Missense |
1/4 |
- |
1 |
6-46656557-C-T |
c.692C>T |
p.P231L |
Missense |
1/4 |
- |
7 |
6-46656558-G-A |
c.693G>A |
p.P231= |
Synonymous |
1/4 |
- |
1 |
6-46656558-G-C |
c.693G>C |
p.P231= |
Synonymous |
1/4 |
- |
1 |
6-46656558-G-T |
c.693G>T |
p.P231= |
Synonymous |
1/4 |
- |
1 |
6-46656563-A-G |
c.698A>G |
p.K233R |
Missense |
1/4 |
- |
1 |
6-46656564-G-A |
c.699G>A |
p.K233= |
Synonymous |
1/4 |
- |
2 |
6-46656570-G-C |
c.705G>C |
p.K235N |
Missense |
1/4 |
- |
1 |
6-46656574-C-A |
c.709C>A |
p.P237T |
Missense |
1/4 |
- |
1 |
6-46656578-G-A |
c.713G>A |
p.G238D |
Missense |
1/4 |
- |
1 |
6-46656583-G-A |
c.718G>A |
p.D240N |
Missense |
1/4 |
- |
1 |
6-46656583-G-T |
c.718G>T |
p.D240Y |
Missense |
1/4 |
- |
2 |
6-46656589-T-C |
c.724T>C |
p.F242L |
Missense |
1/4 |
- |
2 |
6-46656591-C-A |
c.726C>A |
p.F242L |
Missense |
1/4 |
- |
3 |
6-46656591-C-G |
c.726C>G |
p.F242L |
Missense |
1/4 |
- |
2 |
6-46656592-T-G |
c.727T>G |
p.Y243D |
Missense |
1/4 |
- |
1 |
6-46656594-T-A |
c.729T>A |
p.Y243* |
Nonsense |
1/4 |
- |
1 |
6-46656594-T-G |
c.729T>G |
p.Y243* |
Nonsense |
1/4 |
- |
1 |
6-46656595-C-T |
c.730C>T |
p.P244S |
Missense |
1/4 |
- |
1 |
6-46656599-A-T |
c.734A>T |
p.Q245L |
Missense |
1/4 |
- |
1 |
6-46656600-G-A |
c.735G>A |
p.Q245= |
Synonymous |
1/4 |
- |
1 |
6-46656600-G-C |
c.735G>C |
p.Q245H |
Missense |
1/4 |
- |
1 |
6-46656600-G-T |
c.735G>T |
p.Q245H |
Missense |
1/4 |
- |
1 |
6-46656601-C-T |
c.736C>T |
p.L246= |
Synonymous |
1/4 |
- |
1 |
6-46656603-G-A |
c.738G>A |
p.L246= |
Synonymous |
1/4 |
- |
1 |
6-46656603-G-C |
c.738G>C |
p.L246= |
Synonymous |
1/4 |
- |
1 |
6-46656603-G-T |
c.738G>T |
p.L246= |
Synonymous |
1/4 |
- |
1 |
6-46656604-C-A |
c.739C>A |
p.Q247K |
Missense |
1/4 |
- |
1 |
6-46656604-C-T |
c.739C>T |
p.Q247* |
Nonsense |
1/4 |
- |
1 |
6-46656605-CA-C |
c.740del |
p.Q247Rfs*4 |
Frameshift |
1/4 |
- |
1 |
6-46656610-G-C |
c.745G>C |
p.G249R |
Missense |
1/4 |
- |
1 |
6-46656611-G-T |
c.746G>T |
p.G249V |
Missense |
1/4 |
- |
1 |
6-46656612-C-T |
c.747C>T |
p.G249= |
Synonymous |
1/4 |
- |
1 |
6-46656613-G-A |
c.748G>A |
p.V250M |
Missense |
1/4 |
- |
2 |
6-46656613-GTG-ATC |
c.748_750delinsATC |
p.V250I |
Missense |
1/4 |
- |
1 |
6-46656616-A-T |
c.751A>T |
p.T251S |
Missense |
1/4 |
- |
1 |
6-46656617-C-T |
c.752C>T |
p.T251M |
Missense |
1/4 |
- |
1 |
6-46656618-G-A |
c.753G>A |
p.T251= |
Synonymous |
1/4 |
- |
2 |
6-46656618-G-C |
c.753G>C |
p.T251= |
Synonymous |
1/4 |
- |
1 |
6-46656618-G-T |
c.753G>T |
p.T251= |
Synonymous |
1/4 |
- |
1 |
6-46656624-C-T |
c.759C>T |
p.A253= |
Synonymous |
1/4 |
- |
1 |
6-46656625-G-A |
c.760G>A |
p.V254M |
Missense |
1/4 |
- |
1 |
6-46656627-G-A |
c.762G>A |
p.V254= |
Synonymous |
1/4 |
- |
1 |
6-46656627-G-C |
c.762G>C |
p.V254= |
Synonymous |
1/4 |
- |
1 |
6-46656627-G-T |
c.762G>T |
p.V254= |
Synonymous |
1/4 |
- |
1 |
6-46656628-G-A |
c.763G>A |
p.V255I |
Missense |
1/4 |
- |
1 |
6-46656628-GTC-ATG |
c.763_765delinsATG |
p.V255M |
Missense |
1/4 |
- |
1 |
6-46656631-A-G |
c.766A>G |
p.I256V |
Missense |
1/4 |
- |
1 |
6-46656641-T-C |
c.776T>C |
p.V259A |
Missense |
1/4 |
- |
1 |
6-46656643-TG-AC |
c.778_779delinsAC |
p.C260T |
Missense |
1/4 |
- |
1 |
6-46656644-TG-T |
c.779del |
p.C260Sfs*94 |
Frameshift |
1/4 |
- |
1 |
6-46656647-A-C |
c.782A>C |
p.H261P |
Missense |
1/4 |
- |
1 |
6-46656649-C-T |
c.784C>T |
p.P262S |
Missense |
1/4 |
- |
1 |
6-46656650-C-A |
c.785C>A |
p.P262H |
Missense |
1/4 |
- |
1 |
6-46656651-C-A |
c.786C>A |
p.P262= |
Synonymous |
1/4 |
- |
2 |
6-46656651-C-G |
c.786C>G |
p.P262= |
Synonymous |
1/4 |
- |
2 |
6-46656651-C-T |
c.786C>T |
p.P262= |
Synonymous |
1/4 |
- |
2 |
6-46656653-A-G |
c.788A>G |
p.H263R |
Missense |
1/4 |
- |
2 |
6-46656655-CGC-AAG |
c.790_792delinsAAG |
p.R264K |
Missense |
1/4 |
- |
1 |
6-46656656-G-A |
c.791G>A |
p.R264H |
Missense |
1/4 |
- |
3 |
6-46656656-G-T |
c.791G>T |
p.R264L |
Missense |
1/4 |
- |
3 |
6-46656661-C-T |
c.796C>T |
p.H266Y |
Missense |
1/4 |
- |
1 |
6-46656667-C-A |
c.802C>A |
p.Q268K |
Missense |
1/4 |
- |
1 |
6-46656673-C-T |
c.808C>T |
p.R270C |
Missense |
1/4 |
- |
4 |
6-46656684-G-A |
c.819G>A |
p.S273= |
Synonymous |
1/4 |
- |
3 |
6-46656684-G-C |
c.819G>C |
p.S273= |
Synonymous |
1/4 |
- |
2 |
6-46656684-G-T |
c.819G>T |
p.S273= |
Synonymous |
1/4 |
- |
2 |
6-46656685-C-T |
c.820C>T |
p.Q274* |
Nonsense |
1/4 |
- |
1 |
6-46656688-G-A |
c.823G>A |
p.E275K |
Missense |
1/4 |
- |
4 |
6-46656688-G-C |
c.823G>C |
p.E275Q |
Missense |
1/4 |
- |
1 |
6-46656688-G-T |
c.823G>T |
p.E275* |
Nonsense |
1/4 |
- |
2 |
6-46656689-A-C |
c.824A>C |
p.E275A |
Missense |
1/4 |
- |
2 |
6-46656693-C-T |
c.828C>T |
p.I276= |
Synonymous |
1/4 |
- |
1 |
6-46656696-C-G |
c.831C>G |
p.H277Q |
Missense |
1/4 |
- |
1 |
6-46656697-C-T |
c.832C>T |
p.R278C |
Missense |
1/4 |
- |
1 |
6-46656699-C-T |
c.834C>T |
p.R278= |
Synonymous |
1/4 |
- |
1 |
6-46656706-G-A |
c.841G>A |
p.E281K |
Missense |
1/4 |
- |
5 |
6-46656712-A-C |
c.847A>C |
p.M283L |
Missense |
1/4 |
- |
2 |
6-46656714-G-A |
c.849G>A |
p.M283I |
Missense |
1/4 |
- |
1 |
6-46656714-G-C |
c.849G>C |
p.M283I |
Missense |
1/4 |
- |
1 |
6-46656714-G-T |
c.849G>T |
p.M283I |
Missense |
1/4 |
- |
1 |
6-46656716-C-T |
c.851C>T |
p.A284V |
Missense |
1/4 |
- |
1 |
6-46656718-C-A |
c.853C>A |
p.Q285K |
Missense |
1/4 |
- |
1 |
6-46656721-G-A |
c.856G>A |
p.V286I |
Missense |
1/4 |
- |
1 |
6-46656725-A-G |
c.860A>G |
p.Y287C |
Missense |
1/4 |
- |
4 |
6-46656725-A-T |
c.860A>T |
p.Y287F |
Missense |
1/4 |
- |
1 |
6-46656728-G-A |
c.863G>A |
p.R288Q |
Missense |
1/4 |
- |
1 |
6-46656728-G-C |
c.863G>C |
p.R288P |
Missense |
1/4 |
- |
1 |
6-46656728-G-T |
c.863G>T |
p.R288L |
Missense |
1/4 |
- |
1 |
6-46656731-G-A |
c.866G>A |
p.G289D |
Missense |
1/4 |
- |
1 |
6-46656726-CCGGGGTTCCA-C |
c.867_876del |
p.S290Qfs*61 |
Frameshift |
1/4 |
- |
1 |
6-46656732-T-C |
c.867T>C |
p.G289= |
Synonymous |
1/4 |
- |
3 |
6-46656734-C-T |
c.869C>T |
p.S290F |
Missense |
1/4 |
- |
2 |
6-46656737-C-T |
c.872C>T |
p.T291M |
Missense |
1/4 |
- |
3 |
6-46656738-G-A |
c.873G>A |
p.T291= |
Synonymous |
1/4 |
- |
2 |
6-46656738-G-C |
c.873G>C |
p.T291= |
Synonymous |
1/4 |
- |
1 |
6-46656738-G-T |
c.873G>T |
p.T291= |
Synonymous |
1/4 |
- |
1 |
6-46656745-G-A |
c.880G>A |
p.G294R |
Missense |
1/4 |
- |
2 |
6-46656745-G-C |
c.880G>C |
p.G294R |
Missense |
1/4 |
- |
2 |
6-46656745-G-T |
c.880G>T |
p.G294W |
Missense |
1/4 |
- |
1 |
6-46656748-G-A |
c.883G>A |
p.D295N |
Missense |
1/4 |
- |
1 |
6-46656758-C-G |
c.893C>G |
p.S298C |
Missense |
1/4 |
- |
2 |
6-46656761-C-A |
c.896C>A |
p.T299N |
Missense |
1/4 |
- |
1 |
6-46656766-G-A |
c.901G>A |
p.A301T |
Missense |
1/4 |
- |
1 |
6-46656767-C-T |
c.902C>T |
p.A301V |
Missense |
1/4 |
- |
1 |
6-46656769-A-T |
c.904A>T |
p.T302S |
Missense |
1/4 |
- |
1 |
6-46656770-C-G |
c.905C>G |
p.T302S |
Missense |
1/4 |
- |
1 |
6-46656773-G-T |
c.908G>T |
p.W303L |
Missense |
1/4 |
- |
2 |
6-46656775-G-T |
c.910G>T |
p.E304* |
Nonsense |
1/4 |
- |
1 |
6-46656778-G-A |
c.913G>A |
p.E305K |
Missense |
1/4 |
- |
1 |
6-46656780-G-C |
c.915G>C |
p.E305D |
Missense |
1/4 |
- |
1 |
6-46656772-TGGGAGGAGA-T |
c.918_926del |
p.R306_E308del |
InFrameDeletion |
1/4 |
- |
1 |
6-46656790-A-G |
c.925A>G |
p.S309G |
Missense |
1/4 |
- |
1 |
6-46656790-AG-TA |
c.925_926delinsTA |
p.S309Y |
Missense |
1/4 |
- |
2 |
6-46656792-C-T |
c.927C>T |
p.S309= |
Synonymous |
1/4 |
- |
3 |
6-46656794-C-G |
c.929C>G |
p.P310R |
Missense |
1/4 |
- |
2 |
6-46656797-A-C |
c.932A>C |
p.D311A |
Missense |
1/4 |
- |
1 |
6-46656799-A-G |
c.934A>G |
p.K312E |
Missense |
1/4 |
- |
1 |
6-46656799-A-T |
c.934A>T |
p.K312* |
Nonsense |
1/4 |
- |
1 |
6-46656801-G-T |
c.936G>T |
p.K312N |
Missense |
1/4 |
- |
1 |
6-46656803-C-T |
c.938C>T |
p.P313L |
Missense |
1/4 |
- |
2 |
6-46656808-T-A |
c.943T>A |
p.S315T |
Missense |
1/4 |
- |
1 |
6-46656811-C-A |
c.946C>A |
p.P316T |
Missense |
1/4 |
- |
1 |
6-46656811-C-T |
c.946C>T |
p.P316S |
Missense |
1/4 |
- |
3 |
6-46656812-C-G |
c.947C>G |
p.P316R |
Missense |
1/4 |
- |
4 |
6-46656812-C-T |
c.947C>T |
p.P316L |
Missense |
1/4 |
- |
5 |
6-46656813-G-T |
c.948G>T |
p.P316= |
Synonymous |
1/4 |
- |
1 |
6-46656821-C-T |
c.956C>T |
p.S319F |
Missense |
1/4 |
- |
2 |
6-46656822-C-T |
c.957C>T |
p.S319= |
Synonymous |
1/4 |
- |
1 |
6-46656823-T-G |
c.958T>G |
p.C320G |
Missense |
1/4 |
- |
1 |
6-46656824-G-A |
c.959G>A |
p.C320Y |
Missense |
1/4 |
- |
2 |
6-46656826-G-A |
c.961G>A |
p.G321S |
Missense |
1/4 |
- |
1 |
6-46656835-G-T |
c.970G>T |
p.G324* |
Nonsense |
1/4 |
- |
2 |
6-46656847-AGA-CAT |
c.982_984delinsCAT |
p.R328H |
Missense |
1/4 |
- |
1 |
6-46656850-G-A |
c.985G>A |
p.A329T |
Missense |
1/4 |
- |
1 |
6-46656850-G-T |
c.985G>T |
p.A329S |
Missense |
1/4 |
- |
1 |
6-46656851-CA-AC |
c.986_987delinsAC |
p.A329D |
Missense |
1/4 |
- |
1 |
6-46656852-A-C |
c.987A>C |
p.A329= |
Synonymous |
1/4 |
- |
1 |
6-46656852-A-G |
c.987A>G |
p.A329= |
Synonymous |
1/4 |
- |
1 |
6-46656852-A-T |
c.987A>T |
p.A329= |
Synonymous |
1/4 |
- |
1 |
6-46656860-T-A |
c.995T>A |
p.L332H |
Missense |
1/4 |
- |
1 |
6-46656862-G-C |
c.997G>C |
p.E333Q |
Missense |
1/4 |
- |
3 |
6-46656863-A-G |
c.998A>G |
p.E333G |
Missense |
1/4 |
- |
1 |
6-46656864-G-A |
c.999G>A |
p.E333= |
Synonymous |
1/4 |
- |
1 |
6-46656868-T-G |
c.1003T>G |
p.F335V |
Missense |
1/4 |
- |
1 |
6-46656869-T-C |
c.1004T>C |
p.F335S |
Missense |
1/4 |
- |
1 |
6-46656871-C-T |
c.1006C>T |
p.R336W |
Missense |
1/4 |
- |
6 |
6-46656875-C-T |
c.1010C>T |
p.P337L |
Missense |
1/4 |
- |
1 |
6-46656880-C-T |
c.1015C>T |
p.R339C |
Missense |
1/4 |
- |
3 |
6-46656881-G-A |
c.1016G>A |
p.R339H |
Missense |
1/4 |
- |
2 |
6-46656886-G-T |
c.1021G>T |
p.A341S |
Missense |
1/4 |
- |
1 |
6-46656893-T-C |
c.1028T>C |
p.V343A |
Missense |
1/4 |
- |
1 |
6-46656893-T-G |
c.1028T>G |
p.V343G |
Missense |
1/4 |
- |
2 |
6-46656898-C-A |
c.1033C>A |
p.H345N |
Missense |
1/4 |
- |
1 |
6-46656898-C-T |
c.1033C>T |
p.H345Y |
Missense |
1/4 |
- |
1 |
6-46656901-G-C |
c.1036G>C |
p.V346L |
Missense |
1/4 |
- |
1 |
6-46656901-G-T |
c.1036G>T |
p.V346L |
Missense |
1/4 |
- |
1 |
6-46656901-GTG-ATC |
c.1036_1038delinsATC |
p.V346I |
Missense |
1/4 |
- |
1 |
6-46656904-G-A |
c.1039G>A |
p.D347N |
Missense |
1/4 |
- |
1 |
6-46656908-A-G |
c.1043A>G |
p.Y348C |
Missense |
1/4 |
- |
1 |
6-46656914-G-A |
c.1049G>A |
p.R350K |
Missense |
1/4 |
- |
1 |
6-46656917-A-G |
c.1052A>G |
p.K351R |
Missense |
1/4 |
- |
1 |
6-46656919-G-A |
c.1054G>A |
p.E352K |
Missense |
1/4 |
- |
2 |
6-46656919-G-T |
c.1054G>T |
p.E352* |
Nonsense |
1/4 |
- |
1 |
6-46656920-A-G |
c.1055A>G |
p.E352G |
Missense |
1/4 |
- |
1 |
6-46656927-G-C |
c.1062G>C |
p.V354= |
Synonymous |
1/4 |
- |
1 |
6-46656928-A-G |
c.1063A>G |
p.S355G |
Missense |
1/4 |
- |
3 |
6-46656932-G-C |
c.1067G>C |
p.C356S |
Missense |
1/4 |
- |
1 |
6-46656935-G-A |
c.1070G>A |
p.S357N |
Missense |
1/4 |
- |
1 |
6-46656943-C-T |
c.1078C>T |
p.R360W |
Missense |
1/4 |
- |
1 |
6-46656944-G-A |
c.1079G>A |
p.R360Q |
Missense |
1/4 |
- |
2 |
6-46656944-GG-AT |
c.1079_1080delinsAT |
p.R360H |
Missense |
1/4 |
- |
2 |
6-46656946-T-C |
c.1081T>C |
p.Y361H |
Missense |
1/4 |
- |
1 |
6-46656955-C-T |
c.1090C>T |
p.P364S |
Missense |
1/4 |
- |
1 |
6-46656956-C-T |
c.1091C>T |
p.P364L |
Missense |
1/4 |
- |
1 |
6-46656957-T-A |
c.1092T>A |
p.P364= |
Synonymous |
1/4 |
- |
1 |
6-46656957-T-C |
c.1092T>C |
p.P364= |
Synonymous |
1/4 |
- |
1 |
6-46656957-T-G |
c.1092T>G |
p.P364= |
Synonymous |
1/4 |
- |
1 |
6-46656958-G-C |
c.1093G>C |
p.E365Q |
Missense |
1/4 |
- |
2 |
6-46656961-T-C |
c.1096T>C |
p.Y366H |
Missense |
1/4 |
- |
1 |
6-46656967-C-T |
c.1102C>T |
p.R368* |
Nonsense |
1/4 |
- |
9 |
6-46656968-G-A |
c.1103G>A |
p.R368Q |
Missense |
1/4 |
- |
4 |
6-46656973-C-A |
c.1108C>A |
p.P370T |
Missense |
1/4 |
- |
1 |
6-46656976-GTG-ATC |
c.1111_1113delinsATC |
p.V371I |
Missense |
1/4 |
- |
1 |
6-46656979-GTG-ATC |
c.1114_1116delinsATC |
p.V372I |
Missense |
1/4 |
- |
1 |
6-46656980-T-A |
c.1115T>A |
p.V372E |
Missense |
1/4 |
- |
4 |
6-46656980-T-C |
c.1115T>C |
p.V372A |
Missense |
1/4 |
- |
1 |
6-46656982-A-G |
c.1117A>G |
p.T373A |
Missense |
1/4 |
- |
2 |
6-46656987-C-T |
c.1122C>T |
p.Y374= |
Synonymous |
1/4 |
- |
1 |
6-46656988-CC-TT |
c.1123_1124delinsTT |
p.P375F |
Missense |
1/4 |
- |
1 |
6-46656988-C-G |
c.1123C>G |
p.P375A |
Missense |
1/4 |
- |
1 |
6-46656986-AC-A |
c.1124del |
p.P375Lfs*22 |
Frameshift |
1/4 |
- |
1 |
6-46656990-T-A |
c.1125T>A |
p.P375= |
Synonymous |
1/4 |
- |
1 |
6-46656990-T-C |
c.1125T>C |
p.P375= |
Synonymous |
1/4 |
- |
1 |
6-46656990-T-G |
c.1125T>G |
p.P375= |
Synonymous |
1/4 |
- |
1 |
6-46656991-TG-AC |
c.1126_1127delinsAC |
p.C376T |
Missense |
1/4 |
- |
1 |
6-46656994-G-T |
c.1129G>T |
p.A377S |
Missense |
1/4 |
- |
1 |
6-46656995-C-T |
c.1130C>T |
p.A377V |
Missense |
1/4 |
- |
2 |
6-46656997-T-G |
c.1132T>G |
p.L378V |
Missense |
1/4 |
- |
1 |
6-46656999-G-C |
c.1134G>C |
p.L378F |
Missense |
1/4 |
- |
1 |
6-46656999-G-T |
c.1134G>T |
p.L378F |
Missense |
1/4 |
- |
1 |
6-46657001-A-G |
c.1136A>G |
p.Y379C |
Missense |
1/4 |
- |
1 |
6-46657004-G-C |
c.1139G>C |
p.G380A |
Missense |
1/4 |
- |
3 |
6-46657012-G-C |
c.1147G>C |
p.D383H |
Missense |
1/4 |
- |
1 |
6-46657014-C-T |
c.1149C>T |
p.D383= |
Synonymous |
1/4 |
- |
3 |
6-46657016-G-A |
c.1151G>A |
p.G384D |
Missense |
1/4 |
- |
1 |
6-46657018-G-A |
c.1153G>A |
p.G385R |
Missense |
1/4 |
- |
1 |
6-46657019-G-C |
c.1154G>C |
p.G385A |
Missense |
1/4 |
- |
1 |
6-46657021-AG-CT |
c.1156_1157inv |
p.R386L |
Missense |
1/4 |
- |
1 |
6-46657026-C-G |
c.1161C>G |
p.G387= |
Synonymous |
1/4 |
- |
1 |
6-46657029-G-C |
c.1164G>C |
p.W388C |
Missense |
1/4 |
- |
1 |
6-46657029-G-T |
c.1164G>T |
p.W388C |
Missense |
1/4 |
- |
1 |
6-46657031-C-T |
c.1166C>T |
p.S389F |
Missense |
1/4 |
- |
3 |
6-46657033-C-A |
c.1168C>A |
p.R390= |
Synonymous |
1/4 |
- |
1 |
6-46657035-G-A |
c.1170G>A |
p.R390= |
Synonymous |
1/4 |
- |
1 |
6-46657035-G-C |
c.1170G>C |
p.R390= |
Synonymous |
1/4 |
- |
1 |
6-46657035-G-T |
c.1170G>T |
p.R390= |
Synonymous |
1/4 |
- |
1 |
6-46657034-G-A |
c.1169G>A |
p.R390Q |
Missense |
1/4 |
- |
1 |
6-46657036-T-A |
c.1171T>A |
p.S391T |
Missense |
1/4 |
- |
1 |
6-46657043-T-TCAC |
c.1179_1180insACC |
p.V393_G394insT |
InFrameInsertion |
1/4 |
- |
1 |
6-46657045-G-A |
c.1180G>A |
p.G394S |
Missense |
1/4 |
- |
4 |
6-46657045-G-GACCT |
c.1180_1181insACCT |
p.G394Dfs*3 |
Frameshift |
1/4 |
- |
1 |
6-46657046-G-A |
c.1181G>A |
p.G394D |
Missense |
1/4 |
- |
1 |
6-46657051-C-A |
c.1186C>A |
p.L396M |
Missense |
1/4 |
- |
1 |
6-46657051-C-T |
c.1186C>T |
p.L396= |
Synonymous |
1/4 |
- |
1 |
6-46657053-G-A |
c.1188G>A |
p.L396= |
Synonymous |
1/4 |
- |
3 |
6-46657053-G-C |
c.1188G>C |
p.L396= |
Synonymous |
1/4 |
- |
1 |
6-46657053-G-T |
c.1188G>T |
p.L396= |
Synonymous |
1/4 |
- |
1 |
6-46657052-TGAA-T |
c.1190_1192del |
p.K397del |
InFrameDeletion |
1/4 |
- |
1 |
6-46657053-GA-G |
c.1190del |
p.K397Rfs*3 |
Frameshift |
1/4 |
- |
1 |
6-46657055-A-G |
c.1190A>G |
p.K397R |
Missense |
1/4 |
- |
1 |
6-46657057-A-G |
c.1192A>G |
p.T398A |
Missense |
1/4 |
- |
32 |
6-46657059-A-C |
c.1194A>C |
p.T398= |
Synonymous |
1/4 |
- |
1 |
6-46657059-A-G |
c.1194A>G |
p.T398= |
Synonymous |
1/4 |
- |
1 |
6-46657059-A-T |
c.1194A>T |
p.T398= |
Synonymous |
1/4 |
- |
1 |
6-46657066-C-T |
c.1201C>T |
p.L401= |
Synonymous |
1/4 |
- |
2 |
6-46657068-A-C |
c.1203A>C |
p.L401= |
Synonymous |
1/4 |
- |
2 |
6-46657068-A-G |
c.1203A>G |
p.L401= |
Synonymous |
1/4 |
- |
2 |
6-46657068-A-T |
c.1203A>T |
p.L401= |
Synonymous |
1/4 |
- |
2 |
6-46657071-C-A |
c.1206C>A |
p.G402= |
Synonymous |
1/4 |
- |
1 |
6-46657071-C-G |
c.1206C>G |
p.G402= |
Synonymous |
1/4 |
- |
1 |
6-46657071-C-T |
c.1206C>T |
p.G402= |
Synonymous |
1/4 |
- |
1 |
6-46657075-G-T |
c.1210G>T |
p.A404S |
Missense |
1/4 |
- |
1 |
6-46657076-C-G |
c.1211C>G |
p.A404G |
Missense |
1/4 |
- |
1 |
6-46657076-C-T |
c.1211C>T |
p.A404V |
Missense |
1/4 |
- |
1 |
6-46657078-G-C |
c.1213G>C |
p.V405L |
Missense |
1/4 |
- |
1 |
6-46657078-G-T |
c.1213G>T |
p.V405L |
Missense |
1/4 |
- |
1 |
6-46657080-G-A |
c.1215G>A |
p.V405= |
Synonymous |
1/4 |
- |
1 |
6-46657080-G-C |
c.1215G>C |
p.V405= |
Synonymous |
1/4 |
- |
1 |
6-46657080-G-T |
c.1215G>T |
p.V405= |
Synonymous |
1/4 |
- |
2 |
6-46657088-A-G |
c.1223A>G |
p.K408R |
Missense |
1/4 |
- |
1 |
6-46657090-A-C |
c.1225A>C |
p.I409L |
Missense |
1/4 |
- |
1 |
6-46657091-T-C |
c.1226T>C |
p.I409T |
Missense |
1/4 |
- |
1 |
6-46657094-A-G |
c.1229A>G |
p.E410G |
Missense |
1/4 |
- |
1 |
6-46657099-T-C |
c.1234T>C |
p.Y412H |
Missense |
1/4 |
- |
1 |
6-46657100-A-G |
c.1235A>G |
p.Y412C |
Missense |
1/4 |
- |
1 |
6-46657101-T-C |
c.1236T>C |
p.Y412= |
Synonymous |
1/4 |
- |
1 |
6-46657104-C-T |
c.1239C>T |
p.C413= |
Synonymous |
1/4 |
- |
2 |
6-46657105-T-A |
c.1240T>A |
p.S414T |
Missense |
1/4 |
- |
6 |
6-46657105-T-C |
c.1240T>C |
p.S414P |
Missense |
1/4 |
- |
1 |
6-46657105-TC-T |
c.1242del |
p.F415Lfs*17 |
Frameshift |
1/4 |
- |
1 |
6-46657107-C-A |
c.1242C>A |
p.S414= |
Synonymous |
1/4 |
- |
1 |
6-46657107-C-G |
c.1242C>G |
p.S414= |
Synonymous |
1/4 |
- |
1 |
6-46657107-C-T |
c.1242C>T |
p.S414= |
Synonymous |
1/4 |
- |
1 |
6-46657109-T-G |
c.1244T>G |
p.F415C |
Missense |
1/4 |
- |
1 |
6-46657111-G-C |
c.1246G>C |
p.E416Q |
Missense |
1/4 |
- |
2 |
6-46657114-C-T |
c.1249C>T |
p.H417Y |
Missense |
1/4 |
- |
2 |
6-46657115-A-G |
c.1250A>G |
p.H417R |
Missense |
1/4 |
- |
9 |
6-46657121-A-G |
c.1256A>G |
p.Y419C |
Missense |
1/4 |
- |
3 |
6-46657124-A-G |
c.1259A>G |
p.Y420C |
Missense |
1/4 |
- |
1 |
6-46657127-T-C |
c.1262T>C |
p.V421A |
Missense |
1/4 |
- |
1 |
6-46657128-C-A |
c.1263C>A |
p.V421= |
Synonymous |
1/4 |
- |
2 |
6-46657128-C-G |
c.1263C>G |
p.V421= |
Synonymous |
1/4 |
- |
1 |
6-46657128-C-T |
c.1263C>T |
p.V421= |
Synonymous |
1/4 |
- |
2 |
6-46657130-G-A |
c.1265G>A |
p.S422N |
Missense |
1/4 |
- |
1 |
6-46657136-A-G |
c.1271A>G |
p.Y424C |
Missense |
1/4 |
- |
2 |
6-46657138-G-T |
c.1273G>T |
p.G425* |
Nonsense |
1/4 |
- |
1 |
6-46657139-G-A |
c.1274G>A |
p.G425E |
Missense |
1/4 |
- |
1 |
6-46657141-G-A |
c.1276G>A |
p.E426K |
Missense |
1/4 |
- |
1 |
6-46657141-G-T |
c.1276G>T |
p.E426* |
Nonsense |
1/4 |
- |
1 |
6-46657152-T-G |
c.1287T>G |
p.I429M |
Missense |
1/4 |
- |
1 |
6-46657163-G-A |
c.1298G>A |
p.R433H |
Missense |
1/4 |
- |
3 |
6-46657169-T-C |
c.1304T>C |
p.F435S |
Missense |
1/4 |
- |
1 |
6-46657171-G-C |
c.1306G>C |
p.G436R |
Missense |
1/4 |
- |
1 |
6-46657172-G-C |
c.1307G>C |
p.G436A |
Missense |
1/4 |
- |
2 |
6-46657172-G-T |
c.1307G>T |
p.G436V |
Missense |
1/4 |
- |
1 |
6-46657174-G-A |
c.1309G>A |
p.V437I |
Missense |
1/4 |
- |
1 |
6-46657179-G-A |
c.1314G>A |
p.Q438= |
Synonymous |
1/4 |
- |
1 |
6-46657181-C-T |
c.1316C>T |
p.S439L |
Missense |
1/4 |
- |
1 |
6-46657182-G-A |
c.1317G>A |
p.S439= |
Synonymous |
1/4 |
- |
1 |
6-46657182-G-C |
c.1317G>C |
p.S439= |
Synonymous |
1/4 |
- |
1 |
6-46657182-G-T |
c.1317G>T |
p.S439= |
Synonymous |
1/4 |
- |
1 |
6-46657183-T-TG |
c.1319dup |
p.C440Wfs*5 |
Frameshift |
1/4 |
- |
1 |
6-46657184-G-A |
c.1319G>A |
p.C440Y |
Missense |
1/4 |
- |
1 |
6-46657187-G-A |
c.1322G>A |
p.C441Y |
Missense |
1/4 |
- |
1 |
6-46657189-T-C |
c.1324T>C |
p.L442= |
Synonymous |
1/4 |
- |
1 |
6-46657191-G-A |
c.1326G>A |
p.L442= |
Synonymous |
1/4 |
- |
1 |
6-46657194-T-TCTGAAG |
c.1329_1330insCTGAAG |
p.A443_D444insLK |
InFrameInsertion |
1/4 |
- |
1 |
6-46657197-C-A |
c.1332C>A |
p.D444E |
Missense |
1/4 |
- |
1 |
6-46657197-C-CT |
c.1332_1333insT |
p.R445Sfs*23 |
Frameshift |
1/4 |
- |
1 |
6-46657197-C-G |
c.1332C>G |
p.D444E |
Missense |
1/4 |
- |
1 |
6-46657198-CGA-TGG |
c.1333_1335delinsTGG |
p.R445W |
Missense |
1/4 |
- |
1 |
6-46657198-C-T |
c.1333C>T |
p.R445* |
Nonsense |
1/4 |
- |
1 |
6-46657199-G-T |
c.1334G>T |
p.R445L |
Missense |
1/4 |
- |
1 |
6-46657200-GA-G |
c.1335del |
p.V446Sfs*24 |
Frameshift |
1/4 |
- |
1 |
6-46657203-C-T |
c.1338C>T |
p.V446= |
Synonymous |
1/4 |
- |
4 |
6-46657204-CCTTCAG-C |
c.1339_1344del |
p.L447_Q448del |
InFrameDeletion |
1/4 |
- |
1 |
6-46657205-T-G |
c.1340T>G |
p.L447R |
Missense |
1/4 |
- |
1 |
6-46657207-C-T |
c.1342C>T |
p.Q448* |
Nonsense |
1/4 |
- |
1 |
6-46657211-G-A |
c.1346G>A |
p.S449N |
Missense |
1/4 |
- |
1 |
6-46657217-C-T |
c.1352C>T |
p.A451V |
Missense |
1/4 |
- |
2 |
6-46657218-A-C |
c.1353A>C |
p.A451= |
Synonymous |
1/4 |
- |
1 |
6-46657218-A-G |
c.1353A>G |
p.A451= |
Synonymous |
1/4 |
- |
1 |
6-46657218-A-T |
c.1353A>T |
p.A451= |
Synonymous |
1/4 |
- |
1 |
6-46657222-G-A |
c.1357G>A |
p.E453K |
Missense |
1/4 |
- |
1 |
6-46657225-G-C |
c.1360G>C |
p.E454Q |
Missense |
1/4 |
- |
1 |
6-46657231-G-A |
c.1366G>A |
p.E456K |
Missense |
1/4 |
- |
1 |
6-46657233-A-C |
c.1368A>C |
p.E456D |
Missense |
1/4 |
- |
1 |
6-46657233-A-T |
c.1368A>T |
p.E456D |
Missense |
1/4 |
- |
1 |
6-46657236-A-C |
c.1371A>C |
p.P457= |
Synonymous |
1/4 |
- |
2 |
6-46657236-A-G |
c.1371A>G |
p.P457= |
Synonymous |
1/4 |
- |
2 |
6-46657236-A-T |
c.1371A>T |
p.P457= |
Synonymous |
1/4 |
- |
1 |
6-46657243-T-C |
c.1378T>C |
p.S460P |
Missense |
1/4 |
- |
1 |
6-46657246-C-A |
c.1381C>A |
p.Q461K |
Missense |
1/4 |
- |
1 |
6-46657246-C-T |
c.1381C>T |
p.Q461* |
Nonsense |
1/4 |
- |
4 |
6-46657249-TC-AA |
c.1384_1385delinsAA |
p.S462N |
Missense |
1/4 |
- |
1 |
6-46657249-T-G |
c.1384T>G |
p.S462A |
Missense |
1/4 |
- |
1 |
6-46657250-C-G |
c.1385C>G |
p.S462C |
Missense |
1/4 |
- |
1 |
6-46657262-C-T |
c.1397C>T |
p.A466V |
Missense |
1/4 |
- |
1 |
6-46657263-T-A |
c.1398T>A |
p.A466= |
Synonymous |
1/4 |
- |
1 |
6-46657263-T-C |
c.1398T>C |
p.A466= |
Synonymous |
1/4 |
- |
1 |
6-46657263-T-G |
c.1398T>G |
p.A466= |
Synonymous |
1/4 |
- |
1 |
6-46657264-G-A |
c.1399G>A |
p.E467K |
Missense |
1/4 |
- |
1 |
6-46657266-A-C |
c.1401A>C |
p.E467D |
Missense |
1/4 |
- |
1 |
6-46657266-A-T |
c.1401A>T |
p.E467D |
Missense |
1/4 |
- |
1 |
6-46657270-G-C |
c.1405G>C |
p.V469L |
Missense |
1/4 |
- |
1 |
6-46657270-G-T |
c.1405G>T |
p.V469L |
Missense |
1/4 |
- |
1 |
6-46657273-G-A |
c.1408G>A |
p.D470N |
Missense |
1/4 |
- |
5 |
6-46657276-G-A |
c.1411G>A |
p.E471K |
Missense |
1/4 |
- |
1 |
6-46657278-A-C |
c.1413A>C |
p.E471D |
Missense |
1/4 |
- |
1 |
6-46657278-A-T |
c.1413A>T |
p.E471D |
Missense |
1/4 |
- |
1 |
6-46657286-C-T |
c.1421C>T |
p.S474L |
Missense |
1/4 |
- |
4 |
6-46657290-C-A |
c.1425C>A |
p.L475= |
Synonymous |
1/4 |
- |
2 |
6-46657290-C-G |
c.1425C>G |
p.L475= |
Synonymous |
1/4 |
- |
1 |
6-46657290-C-T |
c.1425C>T |
p.L475= |
Synonymous |
1/4 |
- |
1 |
6-46657292-C-CA |
c.1428dup |
p.A477Sfs*21 |
Frameshift |
1/4 |
- |
1 |
6-46657295-C-A |
c.1430C>A |
p.A477D |
Missense |
1/4 |
- |
1 |
6-46657300-AGA-CAT |
c.1435_1437delinsCAT |
p.R479H |
Missense |
1/4 |
- |
1 |
6-46657301-G-A |
c.1436G>A |
p.R479K |
Missense |
1/4 |
- |
2 |
6-46657305-T-G |
c.1440T>G |
p.S480= |
Synonymous |
1/4 |
- |
1 |
6-46657308-C-A |
c.1443C>A |
p.I481= |
Synonymous |
1/4 |
- |
1 |
6-46657326-C-T |
c.1461C>T |
p.A487= |
Synonymous |
1/4 |
- |
1 |
6-46657333-G-A |
c.1468G>A |
p.D490N |
Missense |
1/4 |
- |
4 |
6-46657336-G-A |
c.1471G>A |
p.A491T |
Missense |
1/4 |
- |
1 |
6-46657337-C-T |
c.1472C>T |
p.A491V |
Missense |
1/4 |
- |
4 |
6-46657338-G-A |
c.1473G>A |
p.A491= |
Synonymous |
1/4 |
- |
2 |
6-46657338-G-C |
c.1473G>C |
p.A491= |
Synonymous |
1/4 |
- |
1 |
6-46657338-G-T |
c.1473G>T |
p.A491= |
Synonymous |
1/4 |
- |
1 |
6-46657341-G-A |
c.1476G>A |
p.Q492= |
Synonymous |
1/4 |
- |
3 |
6-46657342-G-A |
c.1477G>A |
p.V493I |
Missense |
1/4 |
- |
1 |
6-46657342-GTA-ATG |
c.1477_1479delinsATG |
p.V493M |
Missense |
1/4 |
- |
1 |
6-46657343-T-C |
c.1478T>C |
p.V493A |
Missense |
1/4 |
- |
1 |
6-46657345-G-C |
c.1480G>C |
p.E494Q |
Missense |
1/4 |
- |
4 |
6-46657349-T-G |
c.1484T>G |
p.F495C |
Missense |
1/4 |
- |
1 |
6-46657348-TTTG-T |
c.1486_1488del |
p.V496del |
InFrameDeletion |
1/4 |
- |
1 |
6-46657351-GT-G |
c.1488del |
p.N498Ifs*9 |
Frameshift |
1/4 |
- |
4 |
6-46657357-A-T |
c.1492A>T |
p.N498Y |
Missense |
1/4 |
- |
1 |
6-46657353-T-TA |
c.1493dup |
p.N498Kfs*4 |
Frameshift |
1/4 |
- |
1 |
6-46657360-C-T |
c.1495C>T |
p.P499S |
Missense |
1/4 |
- |
1 |
6-46657361-C-T |
c.1496C>T |
p.P499L |
Missense |
1/4 |
- |
6 |
6-46657366-G-A |
c.1501G>A |
p.E501K |
Missense |
1/4 |
- |
3 |
6-46657366-G-C |
c.1501G>C |
p.E501Q |
Missense |
1/4 |
- |
4 |
6-46657368-G-C |
c.1503G>C |
p.E501D |
Missense |
1/4 |
- |
1 |
6-46657368-G-T |
c.1503G>T |
p.E501D |
Missense |
1/4 |
- |
1 |
6-46657369-T-C |
c.1504T>C |
p.F502L |
Missense |
1/4 |
- |
1 |
6-46657371-T-A |
c.1506T>A |
p.F502L |
Missense |
1/4 |
- |
1 |
6-46657371-T-G |
c.1506T>G |
p.F502L |
Missense |
1/4 |
- |
1 |
6-46657373-G-A |
c.1508G>A |
p.W503* |
Nonsense |
1/4 |
- |
2 |
6-46657373-G-C |
c.1508G>C |
p.W503S |
Missense |
1/4 |
- |
1 |
6-46657374-G-A |
c.1509G>A |
p.W503* |
Nonsense |
1/4 |
- |
3 |
6-46657374-G-C |
c.1509G>C |
p.W503C |
Missense |
1/4 |
- |
1 |
6-46657374-G-T |
c.1509G>T |
p.W503C |
Missense |
1/4 |
- |
1 |
6-46657378-AG-CA |
c.1513_1514delinsCA |
p.R505Q |
Missense |
1/4 |
- |
1 |
6-46657380-G-C |
c.1515G>C |
p.R505S |
Missense |
1/4 |
- |
1 |
6-46657380-G-T |
c.1515G>T |
p.R505S |
Missense |
1/4 |
- |
1 |
6-46657383-G-C |
c.1518G>C |
p.L506F |
Missense |
1/4 |
- |
1 |
6-46657383-G-T |
c.1518G>T |
p.L506F |
Missense |
1/4 |
- |
1 |
6-46657384-AGG-CAT |
c.1519_1521delinsCAT |
p.R507H |
Missense |
1/4 |
- |
1 |
6-46657385-G-A |
c.1520G>A |
p.R507K |
Missense |
1/4 |
- |
1 |
6-46657386-G-A |
c.1521G>A |
p.R507= |
Synonymous |
1/4 |
- |
1 |
6-46657394-A-G |
c.1529A>G |
p.N510S |
Missense |
1/4 |
- |
2 |
6-46657398-C-A |
c.1533C>A |
p.V511= |
Synonymous |
1/4 |
- |
1 |
6-46657398-C-G |
c.1533C>G |
p.V511= |
Synonymous |
1/4 |
- |
1 |
6-46657398-C-T |
c.1533C>T |
p.V511= |
Synonymous |
1/4 |
- |
1 |
6-46657399-A-T |
c.1534A>T |
p.T512S |
Missense |
1/4 |
- |
1 |
6-46657400-C-G |
c.1535C>G |
p.T512S |
Missense |
1/4 |
- |
1 |
6-46657400-C-T |
c.1535C>T |
p.T512I |
Missense |
1/4 |
- |
1 |
6-46657408-A-G |
c.1543A>G |
p.K515E |
Missense |
1/4 |
- |
1 |
6-46657414-A-C |
c.1549A>C |
p.M517L |
Missense |
1/4 |
- |
1 |
6-46657414-A-T |
c.1549A>T |
p.M517L |
Missense |
1/4 |
- |
1 |
6-46657417-A-G |
c.1552A>G |
p.R518G |
Missense |
1/4 |
- |
1 |
6-46657418-G-A |
c.1553G>A |
p.R518K |
Missense |
1/4 |
- |
1 |
6-46657418-G-T |
c.1553G>T |
p.R518M |
Missense |
1/4 |
- |
3 |
6-46657421-G-A |
c.1556G>A |
p.R519K |
Missense |
1/4 |
- |
1 |
6-46657421-G-T |
c.1556G>T |
p.R519I |
Missense |
1/4 |
- |
5 |
6-46657423-A-C |
c.1558A>C |
p.M520L |
Missense |
1/4 |
- |
1 |
6-46657423-A-T |
c.1558A>T |
p.M520L |
Missense |
1/4 |
- |
1 |
6-46657423-ATG-A |
c.1563_1564del |
p.C521Wfs*8 |
Frameshift |
1/4 |
- |
1 |
6-46657429-G-T |
c.1564G>T |
p.G522C |
Missense |
1/4 |
- |
1 |
6-46657434-C-A |
c.1569C>A |
p.F523L |
Missense |
1/4 |
- |
1 |
6-46657436-A-G |
c.1571A>G |
p.Y524C |
Missense |
1/4 |
- |
1 |
6-46657437-T-A |
c.1572T>A |
p.Y524* |
Nonsense |
1/4 |
- |
1 |
6-46657437-T-G |
c.1572T>G |
p.Y524* |
Nonsense |
1/4 |
- |
1 |
6-46657439-C-T |
c.1574C>T |
p.S525F |
Missense |
1/4 |
- |
2 |
6-46657440-C-T |
c.1575C>T |
p.S525= |
Synonymous |
1/4 |
- |
1 |
6-46657447-A-G |
c.1582A>G |
p.S528G |
Missense |
1/4 |
- |
1 |
6-46657457-A-G |
c.1592A>G |
p.D531G |
Missense |
1/4 |
- |
2 |
6-46657458-T-C |
c.1593T>C |
p.D531= |
Synonymous |
1/4 |
- |
2 |
6-46657462-G-A |
c.1597G>A |
p.V533I |
Missense |
1/4 |
- |
1 |
6-46657466-T-C |
c.1601T>C |
p.V534A |
Missense |
1/4 |
- |
1 |
6-46657466-T-G |
c.1601T>G |
p.V534G |
Missense |
1/4 |
- |
1 |
6-46657467-T-A |
c.1602T>A |
p.V534= |
Synonymous |
1/4 |
- |
1 |
6-46657467-T-C |
c.1602T>C |
p.V534= |
Synonymous |
1/4 |
- |
1 |
6-46657467-T-G |
c.1602T>G |
p.V534= |
Synonymous |
1/4 |
- |
1 |
6-46657474-C-T |
c.1609C>T |
p.P537S |
Missense |
1/4 |
- |
1 |
6-46657475-C-T |
c.1610C>T |
p.P537L |
Missense |
1/4 |
- |
1 |
6-46657477-G-A |
c.1612G>A |
p.E538K |
Missense |
1/4 |
- |
2 |
6-46657492-T-G |
c.1627T>G |
p.C543G |
Missense |
1/4 |
- |
1 |
6-46657495-T-C |
c.1630T>C |
p.C544R |
Missense |
1/4 |
- |
1 |
6-46657503-G-C |
c.1638G>C |
p.K546N |
Missense |
1/4 |
- |
2 |
6-46657503-G-T |
c.1638G>T |
p.K546N |
Missense |
1/4 |
- |
2 |
6-46657514-A-G |
c.1649A>G |
p.N550S |
Missense |
1/4 |
- |
1 |
6-46657521-T-C |
c.1656T>C |
p.Y552= |
Synonymous |
1/4 |
- |
2 |
6-46657527-G-C |
c.1662G>C |
p.R554S |
Missense |
1/4 |
- |
1 |
6-46657527-G-T |
c.1662G>T |
p.R554S |
Missense |
1/4 |
- |
1 |
6-46657528-G-A |
c.1663G>A |
p.A555T |
Missense |
1/4 |
- |
6 |
6-46657529-C-T |
c.1664C>T |
p.A555V |
Missense |
1/4 |
- |
1 |
6-46657533-A-G |
c.1668A>G |
p.I556M |
Missense |
1/4 |
- |
1 |
6-46657535-T-G |
c.1670T>G |
p.V557G |
Missense |
1/4 |
- |
1 |
6-46657549-G-T |
c.1684G>T |
p.D562Y |
Missense |
1/4 |
- |
6 |
6-46657553-A-G |
c.1688A>G |
p.K563R |
Missense |
1/4 |
- |
1 |
6-46657564-G-A |
c.1699G>A |
p.V567I |
Missense |
1/4 |
- |
1 |
6-46657569-C-T |
c.1704C>T |
p.F568= |
Synonymous |
1/4 |
- |
1 |
6-46657579-C-A |
c.1714C>A |
p.R572= |
Synonymous |
1/4 |
- |
1 |
6-46657579-C-T |
c.1714C>T |
p.R572* |
Nonsense |
1/4 |
- |
6 |
6-46657581-A-C |
c.1716A>C |
p.R572= |
Synonymous |
1/4 |
- |
1 |
6-46657581-A-G |
c.1716A>G |
p.R572= |
Synonymous |
1/4 |
- |
1 |
6-46657581-A-T |
c.1716A>T |
p.R572= |
Synonymous |
1/4 |
- |
1 |
6-46657580-G-A |
c.1715G>A |
p.R572Q |
Missense |
1/4 |
- |
3 |
6-46657584-C-T |
c.1719C>T |
p.G573= |
Synonymous |
1/4 |
- |
1 |
6-46657585-A-T |
c.1720A>T |
p.N574Y |
Missense |
1/4 |
- |
2 |
6-46657587-T-C |
c.1722T>C |
p.N574= |
Synonymous |
1/4 |
- |
2 |
6-46657589-C-T |
c.1724C>T |
p.S575L |
Missense |
1/4 |
- |
3 |
6-46657593-A-T |
c.1728A>T |
p.E576D |
Missense |
1/4 |
- |
1 |
6-46657594-A-T |
c.1729A>T |
p.N577Y |
Missense |
1/4 |
- |
1 |
6-46657597-G-A |
c.1732G>A |
p.V578M |
Missense |
1/4 |
- |
1 |
6-46657599-G-T |
c.1734G>T |
p.V578= |
Synonymous |
1/4 |
- |
1 |
6-46657607-A-G |
c.1742A>G |
p.Y581C |
Missense |
1/4 |
- |
1 |
6-46657611-C-T |
c.1746C>T |
p.D582= |
Synonymous |
1/4 |
- |
3 |
6-46657612-G-A |
c.1747G>A |
p.V583I |
Missense |
1/4 |
- |
1 |
6-46657616-G-C |
c.1751G>C |
p.R584T |
Missense |
1/4 |
- |
1 |
6-46657617-G-C |
c.1752G>C |
p.R584S |
Missense |
1/4 |
- |
1 |
6-46657636-AGG-TGT |
c.1771_1773delinsTGT |
p.R591C |
Missense |
1/4 |
- |
2 |
6-46657636-A-T |
c.1771A>T |
p.R591W |
Missense |
1/4 |
- |
1 |
6-46657639-C-A |
c.1774C>A |
p.Q592K |
Missense |
1/4 |
- |
1 |
6-46657639-C-G |
c.1774C>G |
p.Q592E |
Missense |
1/4 |
- |
3 |
6-46657646-C-G |
c.1781C>G |
p.P594R |
Missense |
1/4 |
- |
1 |
6-46657648-A-C |
c.1783A>C |
p.I595L |
Missense |
1/4 |
- |
1 |
6-46657648-A-T |
c.1783A>T |
p.I595L |
Missense |
1/4 |
- |
1 |
6-46657650-A-G |
c.1785A>G |
p.I595M |
Missense |
1/4 |
- |
1 |
6-46657654-G-C |
c.1789G>C |
p.A597P |
Missense |
1/4 |
- |
1 |
6-46657655-C-T |
c.1790C>T |
p.A597V |
Missense |
1/4 |
- |
1 |
6-46657659-G-A |
c.1794G>A |
p.V598= |
Synonymous |
1/4 |
- |
1 |
6-46657659-G-C |
c.1794G>C |
p.V598= |
Synonymous |
1/4 |
- |
1 |
6-46657659-G-T |
c.1794G>T |
p.V598= |
Synonymous |
1/4 |
- |
2 |
6-46657669-CTG-TTT |
c.1804_1806delinsTTT |
p.L602F |
Missense |
1/4 |
- |
1 |
6-46657675-G-A |
c.1810G>A |
p.D604N |
Missense |
1/4 |
- |
1 |
6-46657680-T-G |
c.1815T>G |
p.I605M |
Missense |
1/4 |
- |
1 |
6-46657682-G-C |
c.1817G>C |
p.W606S |
Missense |
1/4 |
- |
1 |
6-46657684-C-T |
c.1819C>T |
p.P607S |
Missense |
1/4 |
- |
1 |
6-46657685-C-G |
c.1820C>G |
p.P607R |
Missense |
1/4 |
- |
1 |
6-46657685-C-T |
c.1820C>T |
p.P607L |
Missense |
1/4 |
- |
2 |
6-46657689-G-T |
c.1824G>T |
p.L608F |
Missense |
1/4 |
- |
2 |
6-46657708-G-A |
c.1843G>A |
p.E615K |
Missense |
1/4 |
- |
2 |
6-46657710-G-C |
c.1845G>C |
p.E615D |
Missense |
1/4 |
- |
1 |
6-46657710-G-T |
c.1845G>T |
p.E615D |
Missense |
1/4 |
- |
1 |
6-46657712-C-T |
c.1847C>T |
p.A616V |
Missense |
1/4 |
- |
1 |
6-46657713-A-C |
c.1848A>C |
p.A616= |
Synonymous |
1/4 |
- |
1 |
6-46657713-A-G |
c.1848A>G |
p.A616= |
Synonymous |
1/4 |
- |
1 |
6-46657714-G-C |
c.1849G>C |
p.V617L |
Missense |
1/4 |
- |
1 |
6-46657714-G-T |
c.1849G>T |
p.V617F |
Missense |
1/4 |
- |
1 |
6-46657718-C-A |
c.1853C>A |
p.S618Y |
Missense |
1/4 |
- |
1 |
6-46657718-C-T |
c.1853C>T |
p.S618F |
Missense |
1/4 |
- |
3 |
6-46657720-T-C |
c.1855T>C |
p.F619L |
Missense |
1/4 |
- |
3 |
6-46657720-T-G |
c.1855T>G |
p.F619V |
Missense |
1/4 |
- |
1 |
6-46657722-T-A |
c.1857T>A |
p.F619L |
Missense |
1/4 |
- |
3 |
6-46657722-T-G |
c.1857T>G |
p.F619L |
Missense |
1/4 |
- |
6 |
6-46657724-T-G |
c.1859T>G |
p.F620C |
Missense |
1/4 |
- |
1 |
6-46657725-T-A |
c.1860T>A |
p.F620L |
Missense |
1/4 |
- |
1 |
6-46657729-A-G |
c.1864A>G |
p.K622E |
Missense |
1/4 |
- |
1 |
6-46657730-A-G |
c.1865A>G |
p.K622R |
Missense |
1/4 |
- |
1 |
6-46657731-G-C |
c.1866G>C |
p.K622N |
Missense |
1/4 |
- |
1 |
6-46657731-G-T |
c.1866G>T |
p.K622N |
Missense |
1/4 |
- |
1 |
6-46657732-A-T |
c.1867A>T |
p.T623S |
Missense |
1/4 |
- |
4 |
6-46657740-C-A |
c.1875C>A |
p.L625= |
Synonymous |
1/4 |
- |
1 |
6-46657741-C-A |
c.1876C>A |
p.H626N |
Missense |
1/4 |
- |
1 |
6-46657741-C-T |
c.1876C>T |
p.H626Y |
Missense |
1/4 |
- |
1 |
6-46657747-G-T |
c.1882G>T |
p.E628* |
Nonsense |
1/4 |
- |
1 |
6-46657755-C-A |
c.1890C>A |
p.V630= |
Synonymous |
1/4 |
- |
1 |
6-46657757-T-G |
c.1892T>G |
p.I631S |
Missense |
1/4 |
- |
6 |
6-46657760-A-G |
c.1895A>G |
p.H632R |
Missense |
1/4 |
- |
1 |
6-46657761-T-C |
c.1896T>C |
p.H632= |
Synonymous |
1/4 |
- |
1 |
6-46657764-T-C |
c.1899T>C |
p.I633= |
Synonymous |
1/4 |
- |
1 |
6-46657765-C-A |
c.1900C>A |
p.L634I |
Missense |
1/4 |
- |
2 |
6-46657768-G-C |
c.1903G>C |
p.D635H |
Missense |
1/4 |
- |
2 |
6-46657768-G-T |
c.1903G>T |
p.D635Y |
Missense |
1/4 |
- |
1 |
6-46657783-C-T |
c.1918C>T |
p.Q640* |
Nonsense |
1/4 |
- |
1 |
6-46657787-A-G |
c.1922A>G |
p.Y641C |
Missense |
1/4 |
- |
1 |
6-46657788-T-A |
c.1923T>A |
p.Y641* |
Nonsense |
1/4 |
- |
1 |
6-46657789-G-C |
c.1924G>C |
p.V642L |
Missense |
1/4 |
- |
1 |
6-46657797-G-A |
c.1932G>A |
p.E644= |
Synonymous |
1/4 |
- |
1 |
6-46657798-A-G |
c.1933A>G |
p.I645V |
Missense |
1/4 |
- |
1 |
6-46657801-C-A |
c.1936C>A |
p.L646I |
Missense |
1/4 |
- |
2 |
6-46657801-C-T |
c.1936C>T |
p.L646F |
Missense |
1/4 |
- |
1 |
6-46657806-C-A |
c.1941C>A |
p.D647E |
Missense |
1/4 |
- |
1 |
6-46657806-C-G |
c.1941C>G |
p.D647E |
Missense |
1/4 |
- |
1 |
6-46657806-C-T |
c.1941C>T |
p.D647= |
Synonymous |
1/4 |
- |
1 |
6-46657809-A-G |
c.1944A>G |
p.E648= |
Synonymous |
1/4 |
- |
1 |
6-46657814-G-A |
c.1949G>A |
p.R650K |
Missense |
1/4 |
- |
1 |
6-46657819-GGG-AGC |
c.1954_1956delinsAGC |
p.G652S |
Missense |
1/4 |
- |
1 |
6-46657820-G-A |
c.1955G>A |
p.G652E |
Missense |
1/4 |
- |
1 |
6-46657822-G-A |
c.1957G>A |
p.E653K |
Missense |
1/4 |
- |
2 |
6-46657822-G-T |
c.1957G>T |
p.E653* |
Nonsense |
1/4 |
- |
1 |
6-46657830-C-A |
c.1965C>A |
p.N655K |
Missense |
1/4 |
- |
1 |
6-46657830-C-G |
c.1965C>G |
p.N655K |
Missense |
1/4 |
- |
1 |
6-46657831-A-G |
c.1966A>G |
p.I656V |
Missense |
1/4 |
- |
1 |
6-46657838-A-G |
c.1973A>G |
p.K658R |
Missense |
1/4 |
- |
2 |
6-46657840-G-A |
c.1975G>A |
p.V659I |
Missense |
1/4 |
- |
1 |
6-46657841-T-C |
c.1976T>C |
p.V659A |
Missense |
1/4 |
- |
1 |
6-46657861-G-A |
c.1996G>A |
p.A666T |
Missense |
1/4 |
- |
2 |
6-46657862-C-T |
c.1997C>T |
p.A666V |
Missense |
1/4 |
- |
2 |
6-46657866-G-C |
c.2001G>C |
p.K667N |
Missense |
1/4 |
- |
1 |
6-46657866-G-T |
c.2001G>T |
p.K667N |
Missense |
1/4 |
- |
1 |
6-46657868-A-G |
c.2003A>G |
p.Y668C |
Missense |
1/4 |
- |
1 |
6-46657869-T-G |
c.2004T>G |
p.Y668* |
Nonsense |
1/4 |
- |
1 |
6-46657873-G-A |
c.2008G>A |
p.E670K |
Missense |
1/4 |
- |
1 |
6-46657877-T-A |
c.2012T>A |
p.F671Y |
Missense |
1/4 |
- |
1 |
6-46657886-A-G |
c.2021A>G |
p.K674R |
Missense |
1/4 |
- |
1 |
6-46657897-C-T |
c.2032C>T |
p.L678= |
Synonymous |
1/4 |
- |
3 |
6-46657899-G-A |
c.2034G>A |
p.L678= |
Synonymous |
1/4 |
- |
1 |
6-46657899-G-C |
c.2034G>C |
p.L678= |
Synonymous |
1/4 |
- |
1 |
6-46657899-G-T |
c.2034G>T |
p.L678= |
Synonymous |
1/4 |
- |
1 |
6-46657901-T-C |
c.2036T>C |
p.V679A |
Missense |
1/4 |
- |
1 |
6-46657906-G-A |
c.2041G>A |
p.A681T |
Missense |
1/4 |
- |
1 |
6-46657910-A-G |
c.2045A>G |
p.H682R |
Missense |
1/4 |
- |
1 |
6-46657914-C-A |
c.2049C>A |
p.S683= |
Synonymous |
1/4 |
- |
1 |
6-46657914-C-G |
c.2049C>G |
p.S683= |
Synonymous |
1/4 |
- |
1 |
6-46657914-C-T |
c.2049C>T |
p.S683= |
Synonymous |
1/4 |
- |
1 |
6-46657915-C-A |
c.2050C>A |
p.P684T |
Missense |
1/4 |
- |
1 |
6-46657918-G-T |
c.2053G>T |
p.G685W |
Missense |
1/4 |
- |
1 |
6-46657929-A-C |
c.2064A>C |
p.S688= |
Synonymous |
1/4 |
- |
2 |
6-46657929-A-G |
c.2064A>G |
p.S688= |
Synonymous |
1/4 |
- |
2 |
6-46657929-A-T |
c.2064A>T |
p.S688= |
Synonymous |
1/4 |
- |
2 |
6-46657931-A-G |
c.2066A>G |
p.N689S |
Missense |
1/4 |
- |
1 |
6-46657943-C-G |
c.2078C>G |
p.T693R |
Missense |
1/4 |
- |
2 |
6-46657943-CG-TC |
c.2078_2079delinsTC |
p.T693I |
Missense |
1/4 |
- |
1 |
6-46657943-C-T |
c.2078C>T |
p.T693M |
Missense |
1/4 |
- |
2 |
6-46657944-G-A |
c.2079G>A |
p.T693= |
Synonymous |
1/4 |
- |
4 |
6-46657944-G-C |
c.2079G>C |
p.T693= |
Synonymous |
1/4 |
- |
3 |
6-46657944-G-T |
c.2079G>T |
p.T693= |
Synonymous |
1/4 |
- |
3 |
6-46657950-T-A |
c.2085T>A |
p.S695R |
Missense |
1/4 |
- |
1 |
6-46657957-A-G |
c.2092A>G |
p.I698V |
Missense |
1/4 |
- |
1 |
6-46657958-T-A |
c.2093T>A |
p.I698K |
Missense |
1/4 |
- |
1 |
6-46657962-T-A |
c.2097T>A |
p.P699= |
Synonymous |
1/4 |
- |
1 |
6-46657964-T-C |
c.2099T>C |
p.F700S |
Missense |
1/4 |
- |
1 |
6-46657968-C-A |
c.2103C>A |
p.A701= |
Synonymous |
1/4 |
- |
1 |
6-46657968-C-G |
c.2103C>G |
p.A701= |
Synonymous |
1/4 |
- |
1 |
6-46657968-C-T |
c.2103C>T |
p.A701= |
Synonymous |
1/4 |
- |
1 |
6-46657973-C-T |
c.2108C>T |
p.T703I |
Missense |
1/4 |
- |
1 |
6-46657976-G-C |
c.2111G>C |
p.G704A |
Missense |
1/4 |
- |
1 |
6-46657977-A-G |
c.2112A>G |
p.G704= |
Synonymous |
1/4 |
- |
1 |
6-46657976-GAGA-G |
c.2114_2116del |
p.E705del |
InFrameDeletion |
1/4 |
- |
5 |
6-46657980-A-G |
c.2115A>G |
p.E705= |
Synonymous |
1/4 |
- |
1 |
6-46657989-G-A |
c.2124G>A |
p.Q708= |
Synonymous |
1/4 |
- |
2 |
6-46657993-G-A |
c.2128G>A |
p.A710T |
Missense |
1/4 |
- |
3 |
6-46657999-AG-CA |
c.2134_2135delinsCA |
p.R712Q |
Missense |
1/4 |
- |
1 |
6-46658002-G-T |
c.2137G>T |
p.E713* |
Nonsense |
1/4 |
- |
1 |
6-46658008-A-C |
c.2143A>C |
p.K715Q |
Missense |
1/4 |
- |
1 |
6-46658017-TC-GG |
c.2152_2153delinsGG |
p.S718G |
Missense |
1/4 |
- |
1 |
6-46658024-CA-C |
c.2163del |
p.A722Lfs*2 |
Frameshift |
1/4 |
- |
1 |
6-46658030-C-T |
c.2165C>T |
p.A722V |
Missense |
1/4 |
- |
2 |
6-46658032-T-C |
c.2167T>C |
p.L723= |
Synonymous |
1/4 |
- |
1 |
6-46658034-G-A |
c.2169G>A |
p.L723= |
Synonymous |
1/4 |
- |
1 |
6-46658034-G-C |
c.2169G>C |
p.L723F |
Missense |
1/4 |
- |
2 |
6-46658038-G-A |
c.2173G>A |
p.D725N |
Missense |
1/4 |
- |
1 |
6-46658038-G-T |
c.2173G>T |
p.D725Y |
Missense |
1/4 |
- |
1 |
6-46658042-C-G |
c.2177C>G |
p.T726R |
Missense |
1/4 |
- |
1 |
6-46658045-C-T |
c.2180C>T |
p.T727I |
Missense |
1/4 |
- |
1 |
6-46658050-G-C |
c.2185G>C |
p.V729L |
Missense |
1/4 |
- |
1 |
6-46658050-G-T |
c.2185G>T |
p.V729L |
Missense |
1/4 |
- |
1 |
6-46658062-TCA-AAC |
c.2197_2199delinsAAC |
p.S733N |
Missense |
1/4 |
- |
1 |
6-46658063-C-A |
c.2198C>A |
p.S733* |
Nonsense |
1/4 |
- |
1 |
6-46658063-C-G |
c.2198C>G |
p.S733* |
Nonsense |
1/4 |
- |
1 |
6-46658067-T-G |
c.2202T>G |
p.T734= |
Synonymous |
1/4 |
- |
1 |
6-46658074-G-A |
c.2209G>A |
p.V737I |
Missense |
1/4 |
- |
1 |
6-46658080-C-T |
c.2215C>T |
p.Q739* |
Nonsense |
1/4 |
- |
1 |
6-46658086-A-G |
c.2221A>G |
p.K741E |
Missense |
1/4 |
- |
3 |
6-46658087-A-G |
c.2222A>G |
p.K741R |
Missense |
1/4 |
- |
1 |
6-46658091-G-A |
c.2226G>A |
p.V742= |
Synonymous |
1/4 |
- |
1 |
6-46658096-GAGC-G |
c.2233_2235del |
p.A745del |
InFrameDeletion |
1/4 |
- |
1 |
6-46658104-TG-T |
c.2239del |
p.V747Ffs*28 |
Frameshift |
1/4 |
- |
1 |
6-46658108-A-T |
c.2243A>T |
p.Y748F |
Missense |
1/4 |
- |
2 |
6-46658112-T-C |
c.2247T>C |
p.F749= |
Synonymous |
1/4 |
- |
1 |
6-46658116-C-T |
c.2251C>T |
p.L751F |
Missense |
1/4 |
- |
1 |
6-46658119-A-C |
c.2254A>C |
p.M752L |
Missense |
1/4 |
- |
1 |
6-46658119-A-T |
c.2254A>T |
p.M752L |
Missense |
1/4 |
- |
1 |
6-46658120-T-C |
c.2255T>C |
p.M752T |
Missense |
1/4 |
- |
1 |
6-46658121-G-C |
c.2256G>C |
p.M752I |
Missense |
1/4 |
- |
1 |
6-46658122-C-T |
c.2257C>T |
p.Q753* |
Nonsense |
1/4 |
- |
1 |
6-46658125-A-T |
c.2260A>T |
p.N754Y |
Missense |
1/4 |
- |
2 |
6-46658129-G-T |
c.2264G>T |
p.C755F |
Missense |
1/4 |
- |
3 |
6-46658136-A-G |
c.2271A>G |
p.E757= |
Synonymous |
1/4 |
- |
1 |
6-46658142-G-C |
c.2277G>C |
p.K759N |
Missense |
1/4 |
- |
1 |
6-46658142-G-T |
c.2277G>T |
p.K759N |
Missense |
1/4 |
- |
1 |
6-46658143-C-T |
c.2278C>T |
p.P760S |
Missense |
1/4 |
- |
1 |
6-46658146-G-A |
c.2281G>A |
p.G761S |
Missense |
1/4 |
- |
1 |
6-46658147-G-C |
c.2282G>C |
p.G761A |
Missense |
1/4 |
- |
2 |
6-46658157-T-C |
c.2292T>C |
p.S764= |
Synonymous |
1/4 |
- |
1 |
6-46658159-A-C |
c.2294A>C |
p.K765T |
Missense |
1/4 |
- |
1 |
6-46658174-T-G |
c.2309T>G |
p.V770G |
Missense |
1/4 |
- |
1 |
6-46658175-T-C |
c.2310T>C |
p.V770= |
Synonymous |
1/4 |
- |
1 |
6-46658177-G-T |
c.2312G>T |
p.G771V |
Missense |
1/4 |
- |
1 |
6-46658180-G-A |
c.2315G>A |
p.S772N |
Missense |
1/4 |
- |
2 |
6-46658183-C-T |
c.2318C>T |
p.T773I |
Missense |
1/4 |
- |
4 |
6-46658186-T-C |
c.2321T>C |
p.V774A |
Missense |
1/4 |
- |
1 |
6-46658188-G-A |
c.2323G>A |
p.E775K |
Missense |
1/4 |
- |
1 |
6-46658188-G-T |
c.2323G>T |
p.E775* |
Nonsense |
1/4 |
- |
1 |
6-46658191-G-A |
c.2326G>A |
p.V776I |
Missense |
1/4 |
- |
1 |
6-46658194-AG-CA |
c.2329_2330delinsCA |
p.R777Q |
Missense |
1/4 |
- |
1 |
6-46658199-G-A |
c.2334G>A |
p.V778= |
Synonymous |
1/4 |
- |
1 |
6-46658201-C-G |
c.2336C>G |
p.S779C |
Missense |
1/4 |
- |
4 |
6-46658201-C-T |
c.2336C>T |
p.S779F |
Missense |
1/4 |
- |
1 |
6-46658202-T-A |
c.2337T>A |
p.S779= |
Synonymous |
1/4 |
- |
1 |
6-46658202-T-C |
c.2337T>C |
p.S779= |
Synonymous |
1/4 |
- |
1 |
6-46658202-T-G |
c.2337T>G |
p.S779= |
Synonymous |
1/4 |
- |
1 |
6-46658206-G-C |
c.2341G>C |
p.V781L |
Missense |
1/4 |
- |
1 |
6-46658209-G-A |
c.2344G>A |
p.E782K |
Missense |
1/4 |
- |
2 |
6-46658209-G-C |
c.2344G>C |
p.E782Q |
Missense |
1/4 |
- |
1 |
6-46658217-T-A |
c.2352T>A |
p.P784= |
Synonymous |
1/4 |
- |
1 |
6-46658217-T-C |
c.2352T>C |
p.P784= |
Synonymous |
1/4 |
- |
1 |
6-46658217-T-G |
c.2352T>G |
p.P784= |
Synonymous |
1/4 |
- |
1 |
6-46658225-T-G |
c.2360T>G |
p.F787C |
Missense |
1/4 |
- |
1 |
6-46658230-T-A |
c.2365T>A |
p.C789S |
Missense |
1/4 |
- |
1 |
6-46658231-G-C |
c.2366G>C |
p.C789S |
Missense |
1/4 |
- |
2 |
6-46658233-C-T |
c.2368C>T |
p.Q790* |
Nonsense |
1/4 |
- |
2 |
6-46658234-A-G |
c.2369A>G |
p.Q790R |
Missense |
1/4 |
- |
1 |
6-46658248-A-G |
c.2383A>G |
p.I795V |
Missense |
1/4 |
- |
1 |
6-46658250-A-G |
c.2385A>G |
p.I795M |
Missense |
1/4 |
- |
9 |
6-46658254-G-T |
c.2389G>T |
p.G797* |
Nonsense |
1/4 |
- |
1 |
6-46658262-A-C |
c.2397A>C |
p.K799N |
Missense |
1/4 |
- |
2 |
6-46658262-A-T |
c.2397A>T |
p.K799N |
Missense |
1/4 |
- |
1 |
6-46658263-A-G |
c.2398A>G |
p.T800A |
Missense |
1/4 |
- |
1 |
6-46658263-A-T |
c.2398A>T |
p.T800S |
Missense |
1/4 |
- |
1 |
6-46658264-C-G |
c.2399C>G |
p.T800S |
Missense |
1/4 |
- |
2 |
6-46658266-C-T |
c.2401C>T |
p.L801= |
Synonymous |
1/4 |
- |
1 |
6-46658268-A-C |
c.2403A>C |
p.L801= |
Synonymous |
1/4 |
- |
2 |
6-46658268-A-G |
c.2403A>G |
p.L801= |
Synonymous |
1/4 |
- |
1 |
6-46658268-A-T |
c.2403A>T |
p.L801= |
Synonymous |
1/4 |
- |
1 |
6-46658269-A-G |
c.2404A>G |
p.M802V |
Missense |
1/4 |
- |
1 |
6-46658271-G-A |
c.2406G>A |
p.M802I |
Missense |
1/4 |
- |
1 |
6-46658272-T-G |
c.2407T>G |
p.S803A |
Missense |
1/4 |
- |
1 |
6-46658273-C-A |
c.2408C>A |
p.S803Y |
Missense |
1/4 |
- |
1 |
6-46658275-G-A |
c.2410G>A |
p.D804N |
Missense |
1/4 |
- |
3 |
6-46658278-A-G |
c.2413A>G |
p.I805V |
Missense |
1/4 |
- |
1 |
6-46658281-C-G |
c.2416C>G |
p.Q806E |
Missense |
1/4 |
- |
1 |
6-46658299-A-G |
c.2434A>G |
p.T812A |
Missense |
1/4 |
- |
1 |
6-46658305-G-A |
c.2440G>A |
p.A814T |
Missense |
1/4 |
- |
2 |
6-46658306-C-A |
c.2441C>A |
p.A814D |
Missense |
1/4 |
- |
1 |
6-46658308-C-T |
c.2443C>T |
p.P815S |
Missense |
1/4 |
- |
3 |
6-46658309-C-A |
c.2444C>A |
p.P815H |
Missense |
1/4 |
- |
1 |
6-46658311-C-G |
c.2446C>G |
p.H816D |
Missense |
1/4 |
- |
2 |
6-46658315-A-C |
c.2450A>C |
p.Q817P |
Missense |
1/4 |
- |
1 |
6-46658318-G-T |
c.2453G>T |
p.R818I |
Missense |
1/4 |
- |
1 |
6-46658322-C-G |
c.2457C>G |
p.N819K |
Missense |
1/4 |
- |
1 |
6-46658330-C-T |
c.2465C>T |
p.A822V |
Missense |
1/4 |
- |
3 |
6-46658338-G-C |
c.2473G>C |
p.A825P |
Missense |
1/4 |
- |
3 |
6-46658344-C-T |
c.2479C>T |
p.R827* |
Nonsense |
1/4 |
- |
2 |
6-46658345-G-A |
c.2480G>A |
p.R827Q |
Missense |
1/4 |
- |
2 |
6-46658350-G-A |
c.2485G>A |
p.V829I |
Missense |
1/4 |
- |
1 |
6-46658351-TAA-T |
c.2488_2489del |
p.N830Qfs*9 |
Frameshift |
1/4 |
- |
2 |
6-46658380-A-G |
c.2515A>G |
p.S839G |
Missense |
1/4 |
- |
3 |
6-46658388-A-G |
c.2523A>G |
p.I841M |
Missense |
1/4 |
- |
3 |
6-46658393-C-CT |
c.2529dup |
p.V844Cfs*26 |
Frameshift |
1/4 |
- |
1 |
6-46658394-T-A |
c.2529T>A |
p.S843= |
Synonymous |
1/4 |
- |
1 |
6-46658394-T-C |
c.2529T>C |
p.S843= |
Synonymous |
1/4 |
- |
1 |
6-46658394-T-G |
c.2529T>G |
p.S843= |
Synonymous |
1/4 |
- |
1 |
6-46658405-T-G |
c.2540T>G |
p.V847G |
Missense |
1/4 |
- |
1 |
6-46658406-C-A |
c.2541C>A |
p.V847= |
Synonymous |
1/4 |
- |
1 |
6-46658406-C-G |
c.2541C>G |
p.V847= |
Synonymous |
1/4 |
- |
1 |
6-46658406-C-T |
c.2541C>T |
p.V847= |
Synonymous |
1/4 |
- |
1 |
6-46658413-A-G |
c.2548A>G |
p.T850A |
Missense |
1/4 |
- |
1 |
6-46658417-T-A |
c.2552T>A |
p.F851Y |
Missense |
1/4 |
- |
4 |
6-46658421-A-G |
c.2556A>G |
p.V852= |
Synonymous |
1/4 |
- |
1 |
6-46658421-A-T |
c.2556A>T |
p.V852= |
Synonymous |
1/4 |
- |
1 |
6-46658422-G-T |
c.2557G>T |
p.D853Y |
Missense |
1/4 |
- |
1 |
6-46658428-G-T |
c.2563G>T |
p.G855* |
Nonsense |
1/4 |
- |
1 |
6-46658434-AG-CA |
c.2569_2570delinsCA |
p.R857Q |
Missense |
1/4 |
- |
1 |
6-46658437-G-A |
c.2572G>A |
p.E858K |
Missense |
1/4 |
- |
1 |
6-46658437-G-T |
c.2572G>T |
p.E858* |
Nonsense |
1/4 |
- |
1 |
6-46658447-C-A |
c.2582C>A |
p.S861Y |
Missense |
1/4 |
- |
1 |
6-46658447-C-T |
c.2582C>T |
p.S861F |
Missense |
1/4 |
- |
1 |
6-46658449-G-A |
c.2584G>A |
p.V862M |
Missense |
1/4 |
- |
1 |
6-46658453-A-G |
c.2588A>G |
p.K863R |
Missense |
1/4 |
- |
2 |
6-46658460-T-G |
c.2595T>G |
p.I865M |
Missense |
1/4 |
- |
1 |
6-46658464-T-G |
c.2599T>G |
p.S867A |
Missense |
1/4 |
- |
1 |
6-46658465-C-A |
c.2600C>A |
p.S867* |
Nonsense |
1/4 |
- |
1 |
6-46658473-G-A |
c.2608G>A |
p.E870K |
Missense |
1/4 |
- |
3 |
6-46658476-G-A |
c.2611G>A |
p.E871K |
Missense |
1/4 |
- |
1 |
6-46658482-C-T |
c.2617C>T |
p.L873= |
Synonymous |
1/4 |
- |
1 |
6-46658487-G-C |
c.2622G>C |
p.K874N |
Missense |
1/4 |
- |
1 |
6-46658487-G-T |
c.2622G>T |
p.K874N |
Missense |
1/4 |
- |
1 |
6-46658498-A-G |
c.2633A>G |
p.Q878R |
Missense |
1/4 |
- |
1 |
6-46658501-C-T |
c.2636C>T |
p.A879V |
Missense |
1/4 |
- |
1 |
6-46658510-G-T |
c.2645G>T |
p.C882F |
Missense |
1/4 |
- |
1 |
6-46658513-G-A |
c.2648G>A |
p.S883N |
Missense |
1/4 |
- |
1 |
6-46658516-T-C |
c.2651T>C |
p.L884P |
Missense |
1/4 |
- |
1 |
6-46658530-C-A |
c.2665C>A |
p.Q889K |
Missense |
1/4 |
- |
1 |
6-46658530-C-T |
c.2665C>T |
p.Q889* |
Nonsense |
1/4 |
- |
1 |
6-46658534-C-T |
c.2669C>T |
p.P890L |
Missense |
1/4 |
- |
1 |
6-46658536-G-C |
c.2671G>C |
p.V891L |
Missense |
1/4 |
- |
1 |
6-46658540-G-T |
c.2675G>T |
p.G892V |
Missense |
1/4 |
- |
1 |
6-46658541-C-A |
c.2676C>A |
p.G892= |
Synonymous |
1/4 |
- |
1 |
6-46658541-C-G |
c.2676C>G |
p.G892= |
Synonymous |
1/4 |
- |
1 |
6-46658541-C-T |
c.2676C>T |
p.G892= |
Synonymous |
1/4 |
- |
1 |
6-46658548-C-T |
c.2683C>T |
p.P895S |
Missense |
1/4 |
- |
1 |
6-46658565-A-C |
c.2700A>C |
p.V900= |
Synonymous |
1/4 |
- |
2 |
6-46658565-A-G |
c.2700A>G |
p.V900= |
Synonymous |
1/4 |
- |
2 |
6-46658565-A-T |
c.2700A>T |
p.V900= |
Synonymous |
1/4 |
- |
2 |
6-46658568-G-A |
c.2703G>A |
p.K901= |
Synonymous |
1/4 |
- |
1 |
6-46658575-C-T |
c.2710C>T |
p.Q904* |
Nonsense |
1/4 |
- |
1 |
6-46658578-G-A |
c.2713G>A |
p.A905T |
Missense |
1/4 |
- |
1 |
6-46658581-T-C |
c.2716T>C |
p.F906L |
Missense |
1/4 |
- |
3 |
6-46658583-C-G |
c.2718C>G |
p.F906L |
Missense |
1/4 |
- |
3 |
6-46658583-C-A |
c.2718C>A |
p.F906L |
Missense |
1/4 |
- |
4 |
6-46658583-C-T |
c.2718C>T |
p.F906= |
Synonymous |
1/4 |
- |
1 |
6-46658595-A-G |
c.2730A>G |
p.I910M |
Missense |
1/4 |
- |
2 |
6-46658596-G-A |
c.2731G>A |
p.D911N |
Missense |
1/4 |
- |
2 |
6-46658603-C-A |
c.2738C>A |
p.A913E |
Missense |
1/4 |
- |
1 |
6-46658607-G-T |
c.2742G>T |
p.W914C |
Missense |
1/4 |
- |
1 |
6-46658608-C-A |
c.2743C>A |
p.Q915K |
Missense |
1/4 |
- |
1 |
6-46658611-A-C |
c.2746A>C |
p.K916Q |
Missense |
1/4 |
- |
2 |
6-46658613-A-AT |
c.2748_2749insT |
p.N917* |
Nonsense |
1/4 |
- |
2 |
6-46658613-A-C |
c.2748A>C |
p.K916N |
Missense |
1/4 |
- |
1 |
6-46658613-A-T |
c.2748A>T |
p.K916N |
Missense |
1/4 |
- |
1 |
6-46658608-CA-C |
c.2750del |
p.N917Ifs*2 |
Frameshift |
1/4 |
- |
3 |
6-46658608-C-CA |
c.2750dup |
p.N917Kfs*15 |
Frameshift |
1/4 |
- |
3 |
6-46658616-T-A |
c.2751T>A |
p.N917K |
Missense |
1/4 |
- |
2 |
6-46658616-T-C |
c.2751T>C |
p.N917= |
Synonymous |
1/4 |
- |
1 |
6-46658617-C-A |
c.2752C>A |
p.L918I |
Missense |
1/4 |
- |
1 |
6-46658618-T-G |
c.2753T>G |
p.L918R |
Missense |
1/4 |
- |
1 |
6-46658620-G-C |
c.2755G>C |
p.E919Q |
Missense |
1/4 |
- |
1 |
6-46658620-G-T |
c.2755G>T |
p.E919* |
Nonsense |
1/4 |
- |
2 |
6-46658629-TG-AC |
c.2764_2765delinsAC |
p.C922T |
Missense |
1/4 |
- |
1 |
6-46658630-G-A |
c.2765G>A |
p.C922Y |
Missense |
1/4 |
- |
1 |
6-46658642-C-T |
c.2777C>T |
p.A926V |
Missense |
1/4 |
- |
1 |
6-46658648-C-T |
c.2783C>T |
p.A928V |
Missense |
1/4 |
- |
2 |
6-46658651-C-A |
c.2786C>A |
p.S929* |
Nonsense |
1/4 |
- |
1 |
6-46658651-C-G |
c.2786C>G |
p.S929* |
Nonsense |
1/4 |
- |
1 |
6-46658651-C-T |
c.2786C>T |
p.S929L |
Missense |
1/4 |
- |
5 |
6-46658656-A-C |
c.2791A>C |
p.N931H |
Missense |
1/4 |
- |
1 |
6-46658657-A-G |
c.2792A>G |
p.N931S |
Missense |
1/4 |
- |
1 |
6-46658659-G-A |
c.2794G>A |
p.E932K |
Missense |
1/4 |
- |
1 |
6-46658662-G-A |
c.2797G>A |
p.E933K |
Missense |
1/4 |
- |
1 |
6-46658667-G-A |
c.2802G>A |
p.L934= |
Synonymous |
1/4 |
- |
1 |
6-46658671-A-G |
c.2806A>G |
p.N936D |
Missense |
1/4 |
- |
1 |
6-46658674-A-G |
c.2809A>G |
p.I937V |
Missense |
1/4 |
- |
1 |
6-46658677-G-T |
c.2812G>T |
p.V938L |
Missense |
1/4 |
- |
1 |
6-46658677-TG-T |
c.2812del |
p.V938Wfs*4 |
Frameshift |
1/4 |
- |
1 |
6-46658690-C-T |
c.2825C>T |
p.T942I |
Missense |
1/4 |
- |
1 |
6-46658692-C-T |
c.2827C>T |
p.P943S |
Missense |
1/4 |
- |
1 |
6-46658698-C-T |
c.2833C>T |
p.Q945* |
Nonsense |
1/4 |
- |
1 |
6-46658700-G-C |
c.2835G>C |
p.Q945H |
Missense |
1/4 |
- |
1 |
6-46658700-G-T |
c.2835G>T |
p.Q945H |
Missense |
1/4 |
- |
1 |
6-46658701-AG-TT |
c.2836_2837delinsTT |
p.S946F |
Missense |
1/4 |
- |
1 |
6-46658707-T-C |
c.2842T>C |
p.C948R |
Missense |
1/4 |
- |
1 |
6-46658709-C-T |
c.2844C>T |
p.C948= |
Synonymous |
1/4 |
- |
2 |
6-46658710-C-T |
c.2845C>T |
p.H949Y |
Missense |
1/4 |
- |
2 |
6-46658721-A-C |
c.2856A>C |
p.V952= |
Synonymous |
1/4 |
- |
1 |
6-46658721-A-G |
c.2856A>G |
p.V952= |
Synonymous |
1/4 |
- |
1 |
6-46658721-A-T |
c.2856A>T |
p.V952= |
Synonymous |
1/4 |
- |
1 |
6-46658722-G-A |
c.2857G>A |
p.E953K |
Missense |
1/4 |
- |
1 |
6-46658722-G-C |
c.2857G>C |
p.E953Q |
Missense |
1/4 |
- |
3 |
6-46658729-G-A |
c.2864G>A |
p.R955K |
Missense |
1/4 |
- |
1 |
6-46658733-T-A |
c.2868T>A |
p.L956= |
Synonymous |
1/4 |
- |
1 |
6-46658733-T-C |
c.2868T>C |
p.L956= |
Synonymous |
1/4 |
- |
1 |
6-46658733-T-G |
c.2868T>G |
p.L956= |
Synonymous |
1/4 |
- |
1 |
6-46658734-GCA-TGT |
c.2869_2871delinsTGT |
p.A957C |
Missense |
1/4 |
- |
1 |
6-46658734-G-T |
c.2869G>T |
p.A957S |
Missense |
1/4 |
- |
1 |
6-46658738-G-C |
c.2873G>C |
p.R958T |
Missense |
1/4 |
- |
1 |
6-46658738-G-T |
c.2873G>T |
p.R958I |
Missense |
1/4 |
- |
1 |
6-46658740-C-T |
c.2875C>T |
p.P959S |
Missense |
1/4 |
- |
1 |
6-46658744-T-C |
c.2879T>C |
p.V960A |
Missense |
1/4 |
- |
1 |
6-46658752-C-G |
c.2887C>G |
p.Q963E |
Missense |
1/4 |
- |
1 |
6-46658752-C-T |
c.2887C>T |
p.Q963* |
Nonsense |
1/4 |
- |
1 |
6-46658755-A-C |
c.2890A>C |
p.K964Q |
Missense |
1/4 |
- |
1 |
6-46658757-G-A |
c.2892G>A |
p.K964= |
Synonymous |
1/4 |
- |
1 |
6-46658763-G-A |
c.2898G>A |
p.L966= |
Synonymous |
1/4 |
- |
1 |
6-46658770-T-C |
c.2905T>C |
p.S969P |
Missense |
1/4 |
- |
1 |
6-46658770-TC-AA |
c.2905_2906delinsAA |
p.S969N |
Missense |
1/4 |
- |
1 |
6-46658781-A-T |
c.2916A>T |
p.L972= |
Synonymous |
1/4 |
- |
1 |
6-46658787-C-A |
c.2922C>A |
p.S974= |
Synonymous |
1/4 |
- |
2 |
6-46658787-C-G |
c.2922C>G |
p.S974= |
Synonymous |
1/4 |
- |
2 |
6-46658787-C-T |
c.2922C>T |
p.S974= |
Synonymous |
1/4 |
- |
3 |
6-46658789-A-T |
c.2924A>T |
p.Y975F |
Missense |
1/4 |
- |
1 |
6-46658791-T-A |
c.2926T>A |
p.F976I |
Missense |
1/4 |
- |
1 |
6-46658791-T-C |
c.2926T>C |
p.F976L |
Missense |
1/4 |
- |
4 |
6-46658793-C-A |
c.2928C>A |
p.F976L |
Missense |
1/4 |
- |
1 |
6-46658793-C-G |
c.2928C>G |
p.F976L |
Missense |
1/4 |
- |
1 |
6-46658795-A-G |
c.2930A>G |
p.Y977C |
Missense |
1/4 |
- |
1 |
6-46658818-G-A |
c.2953G>A |
p.G985R |
Missense |
1/4 |
- |
1 |
6-46658818-G-C |
c.2953G>C |
p.G985R |
Missense |
1/4 |
- |
1 |
6-46658819-G-T |
c.2954G>T |
p.G985V |
Missense |
1/4 |
- |
1 |
6-46658826-A-T |
c.2961A>T |
p.E987D |
Missense |
1/4 |
- |
1 |
6-46658827-G-T |
c.2962G>T |
p.E988* |
Nonsense |
1/4 |
- |
1 |
6-46658828-A-C |
c.2963A>C |
p.E988A |
Missense |
1/4 |
- |
1 |
6-46658842-A-G |
c.2977A>G |
p.T993A |
Missense |
1/4 |
- |
1 |
6-46658843-C-G |
c.2978C>G |
p.T993R |
Missense |
1/4 |
- |
1 |
6-46658843-C-T |
c.2978C>T |
p.T993M |
Missense |
1/4 |
- |
5 |
6-46658848-A-G |
c.2983A>G |
p.I995V |
Missense |
1/4 |
- |
1 |
6-46658851-G-A |
c.2986G>A |
p.D996N |
Missense |
1/4 |
- |
1 |
6-46658852-A-T |
c.2987A>T |
p.D996V |
Missense |
1/4 |
- |
1 |
6-46658854-G-A |
c.2989G>A |
p.D997N |
Missense |
1/4 |
- |
5 |
6-46658854-G-T |
c.2989G>T |
p.D997Y |
Missense |
1/4 |
- |
1 |
6-46658857-C-G |
c.2992C>G |
p.P998A |
Missense |
1/4 |
- |
1 |
6-46658859-T-C |
c.2994T>C |
p.P998= |
Synonymous |
1/4 |
- |
1 |
6-46658862-G-C |
c.2997G>C |
p.W999C |
Missense |
1/4 |
- |
1 |
6-46658862-G-T |
c.2997G>T |
p.W999C |
Missense |
1/4 |
- |
1 |
6-46658863-A-G |
c.2998A>G |
p.T1000A |
Missense |
1/4 |
- |
1 |
6-46658866-T-C |
c.3001T>C |
p.F1001L |
Missense |
1/4 |
- |
1 |
6-46658868-T-A |
c.3003T>A |
p.F1001L |
Missense |
1/4 |
- |
1 |
6-46658868-T-G |
c.3003T>G |
p.F1001L |
Missense |
1/4 |
- |
1 |
6-46658877-G-C |
c.3012G>C |
p.Q1004H |
Missense |
1/4 |
- |
2 |
6-46658877-G-T |
c.3012G>T |
p.Q1004H |
Missense |
1/4 |
- |
2 |
6-46658883-A-AT |
c.3018_3019insT |
p.R1007* |
Nonsense |
1/4 |
- |
1 |
6-46658885-G-C |
c.3020G>C |
p.R1007T |
Missense |
1/4 |
- |
1 |
6-46658885-GA-G |
c.3023del |
p.N1008Mfs*5 |
Frameshift |
1/4 |
- |
1 |
6-46658888-A-C |
c.3023A>C |
p.N1008T |
Missense |
1/4 |
- |
1 |
6-46658891-C-A |
c.3026C>A |
p.A1009E |
Missense |
1/4 |
- |
1 |
6-46658892-A-C |
c.3027A>C |
p.A1009= |
Synonymous |
1/4 |
- |
2 |
6-46658892-A-G |
c.3027A>G |
p.A1009= |
Synonymous |
1/4 |
- |
2 |
6-46658892-A-T |
c.3027A>T |
p.A1009= |
Synonymous |
1/4 |
- |
3 |
6-46658893-A-G |
c.3028A>G |
p.N1010D |
Missense |
1/4 |
- |
1 |
6-46658901-A-C |
c.3036A>C |
p.L1012F |
Missense |
1/4 |
- |
1 |
6-46658901-A-T |
c.3036A>T |
p.L1012F |
Missense |
1/4 |
- |
1 |
6-46658902-G-A |
c.3037G>A |
p.E1013K |
Missense |
1/4 |
- |
1 |
6-46658905-C-G |
c.3040C>G |
p.Q1014E |
Missense |
1/4 |
- |
23 |
6-46658907-G-A |
c.3042G>A |
p.Q1014= |
Synonymous |
1/4 |
- |
2 |
6-46658908-TTG-ATC |
c.3043_3045delinsATC |
p.L1015I |
Missense |
1/4 |
- |
1 |
6-46658913-A-C |
c.3048A>C |
p.S1016= |
Synonymous |
1/4 |
- |
1 |
6-46658913-A-G |
c.3048A>G |
p.S1016= |
Synonymous |
1/4 |
- |
1 |
6-46658913-A-T |
c.3048A>T |
p.S1016= |
Synonymous |
1/4 |
- |
1 |
6-46658915-G-A |
c.3050G>A |
p.C1017Y |
Missense |
1/4 |
- |
1 |
6-46658920-A-G |
c.3055A>G |
p.I1019V |
Missense |
1/4 |
- |
1 |
6-46658933-G-T |
c.3068G>T |
p.S1023I |
Missense |
1/4 |
- |
1 |
6-46658952-A-G |
c.3087A>G |
p.L1029= |
Synonymous |
1/4 |
- |
2 |
6-46658957-C-T |
c.3092C>T |
p.T1031I |
Missense |
1/4 |
- |
1 |
6-46658962-C-T |
c.3097C>T |
p.P1033S |
Missense |
1/4 |
- |
1 |
6-46658963-C-T |
c.3098C>T |
p.P1033L |
Missense |
1/4 |
- |
1 |
6-46658969-A-G |
c.3104A>G |
p.N1035S |
Missense |
1/4 |
- |
2 |
6-46658970-C-T |
c.3105C>T |
p.N1035= |
Synonymous |
1/4 |
- |
3 |
6-46658975-G-A |
c.3110G>A |
p.G1037E |
Missense |
1/4 |
- |
1 |
6-46658978-C-A |
c.3113C>A |
p.T1038N |
Missense |
1/4 |
- |
1 |
6-46658979-C-G |
c.3114C>G |
p.T1038= |
Synonymous |
1/4 |
- |
1 |
6-46658984-G-T |
c.3119G>T |
p.C1040F |
Missense |
1/4 |
- |
1 |
6-46658986-C-T |
c.3121C>T |
p.L1041F |
Missense |
1/4 |
- |
2 |
6-46658990-C-T |
c.3125C>T |
p.A1042V |
Missense |
1/4 |
- |
1 |
6-46658991-C-A |
c.3126C>A |
p.A1042= |
Synonymous |
1/4 |
- |
1 |
6-46658991-C-G |
c.3126C>G |
p.A1042= |
Synonymous |
1/4 |
- |
2 |
6-46658991-C-T |
c.3126C>T |
p.A1042= |
Synonymous |
1/4 |
- |
1 |
6-46658992-A-T |
c.3127A>T |
p.K1043* |
Nonsense |
1/4 |
- |
3 |
6-46658993-A-C |
c.3128A>C |
p.K1043T |
Missense |
1/4 |
- |
2 |
6-46658993-A-G |
c.3128A>G |
p.K1043R |
Missense |
1/4 |
- |
1 |
6-46658994-G-C |
c.3129G>C |
p.K1043N |
Missense |
1/4 |
- |
1 |
6-46658994-G-T |
c.3129G>T |
p.K1043N |
Missense |
1/4 |
- |
1 |
6-46659003-T-A |
c.3138T>A |
p.D1046E |
Missense |
1/4 |
- |
5 |
6-46659003-T-G |
c.3138T>G |
p.D1046E |
Missense |
1/4 |
- |
3 |
6-46659016-A-AT |
c.3151_3152insT |
p.R1051Mfs*16 |
Frameshift |
1/4 |
- |
1 |
6-46659017-G-T |
c.3152G>T |
p.R1051M |
Missense |
1/4 |
- |
1 |
6-46659018-G-C |
c.3153G>C |
p.R1051S |
Missense |
1/4 |
- |
1 |
6-46659018-G-T |
c.3153G>T |
p.R1051S |
Missense |
1/4 |
- |
1 |
6-46659025-G-C |
c.3160G>C |
p.V1054L |
Missense |
1/4 |
- |
1 |
6-46659026-T-A |
c.3161T>A |
p.V1054E |
Missense |
1/4 |
- |
1 |
6-46659027-A-C |
c.3162A>C |
p.V1054= |
Synonymous |
1/4 |
- |
1 |
6-46659027-A-G |
c.3162A>G |
p.V1054= |
Synonymous |
1/4 |
- |
1 |
6-46659027-A-T |
c.3162A>T |
p.V1054= |
Synonymous |
1/4 |
- |
1 |
6-46659031-G-C |
c.3166G>C |
p.E1056Q |
Missense |
1/4 |
- |
1 |
6-46659036-A-G |
c.3171A>G |
p.K1057= |
Synonymous |
1/4 |
- |
1 |
6-46659042-A-C |
c.3177A>C |
p.P1059= |
Synonymous |
1/4 |
- |
1 |
6-46659042-A-G |
c.3177A>G |
p.P1059= |
Synonymous |
1/4 |
- |
1 |
6-46659042-A-T |
c.3177A>T |
p.P1059= |
Synonymous |
1/4 |
- |
1 |
6-46659045-G-A |
c.3180G>A |
p.K1060= |
Synonymous |
1/4 |
- |
2 |
6-46659048-A-G |
c.3183A>G |
p.K1061= |
Synonymous |
1/4 |
- |
1 |
6-46659049-G-A |
c.3184G>A |
p.V1062I |
Missense |
1/4 |
- |
1 |
6-46659049-G-T |
c.3184G>T |
p.V1062F |
Missense |
1/4 |
- |
1 |
6-46659051-C-A |
c.3186C>A |
p.V1062= |
Synonymous |
1/4 |
- |
1 |
6-46659052-T-C |
c.3187T>C |
p.F1063L |
Missense |
1/4 |
- |
2 |
6-46659052-T-G |
c.3187T>G |
p.F1063V |
Missense |
1/4 |
- |
3 |
6-46659054-C-A |
c.3189C>A |
p.F1063L |
Missense |
1/4 |
- |
2 |
6-46659054-C-G |
c.3189C>G |
p.F1063L |
Missense |
1/4 |
- |
2 |
6-46659064-T-G |
c.3199T>G |
p.F1067V |
Missense |
1/4 |
- |
3 |
6-46659065-T-G |
c.3200T>G |
p.F1067C |
Missense |
1/4 |
- |
1 |
6-46659068-G-A |
c.3203G>A |
p.G1068E |
Missense |
1/4 |
- |
1 |
6-46659069-G-A |
c.3204G>A |
p.G1068= |
Synonymous |
1/4 |
- |
1 |
6-46659069-G-C |
c.3204G>C |
p.G1068= |
Synonymous |
1/4 |
- |
1 |
6-46659069-G-T |
c.3204G>T |
p.G1068= |
Synonymous |
1/4 |
- |
1 |
6-46659079-G-A |
c.3214G>A |
p.V1072I |
Missense |
1/4 |
- |
1 |
6-46659088-AG-CT |
c.3223_3224inv |
p.S1075L |
Missense |
1/4 |
- |
1 |
6-46659089-GTGA-G |
c.3229_3231del |
p.D1077del |
InFrameDeletion |
1/4 |
- |
1 |
6-46659095-A-G |
c.3230A>G |
p.D1077G |
Missense |
1/4 |
- |
3 |
6-46659103-C-T |
c.3238C>T |
p.P1080S |
Missense |
1/4 |
- |
1 |
6-46659110-C-G |
c.3245C>G |
p.P1082R |
Missense |
1/4 |
- |
1 |
6-46659110-C-T |
c.3245C>T |
p.P1082L |
Missense |
1/4 |
- |
1 |
6-46659112-A-G |
c.3247A>G |
p.S1083G |
Missense |
1/4 |
- |
1 |
6-46659115-G-T |
c.3250G>T |
p.D1084Y |
Missense |
1/4 |
- |
1 |
6-46659118-G-A |
c.3253G>A |
p.A1085T |
Missense |
1/4 |
- |
1 |
6-46659127-GTC-ATG |
c.3262_3264delinsATG |
p.V1088M |
Missense |
1/4 |
- |
1 |
6-46659130-T-C |
c.3265T>C |
p.L1089= |
Synonymous |
1/4 |
- |
1 |
6-46659140-C-T |
c.3275C>T |
p.P1092L |
Missense |
1/4 |
- |
1 |
6-46659143-T-C |
c.3278T>C |
p.M1093T |
Missense |
1/4 |
- |
2 |
6-46659144-G-A |
c.3279G>A |
p.M1093I |
Missense |
1/4 |
- |
1 |
6-46659144-G-C |
c.3279G>C |
p.M1093I |
Missense |
1/4 |
- |
1 |
6-46659144-G-T |
c.3279G>T |
p.M1093I |
Missense |
1/4 |
- |
1 |
6-46659149-C-A |
c.3284C>A |
p.A1095D |
Missense |
1/4 |
- |
1 |
6-46659149-C-T |
c.3284C>T |
p.A1095V |
Missense |
1/4 |
- |
1 |
6-46659150-T-G |
c.3285T>G |
p.A1095= |
Synonymous |
1/4 |
- |
1 |
6-46659159-T-C |
c.3294T>C |
p.C1098= |
Synonymous |
1/4 |
- |
3 |
6-46659161-C-T |
c.3296C>T |
p.S1099L |
Missense |
1/4 |
- |
1 |
6-46659171-T-C |
c.3306T>C |
p.D1102= |
Synonymous |
1/4 |
- |
1 |
6-46659175-C-T |
c.3310C>T |
p.P1104S |
Missense |
1/4 |
- |
1 |
6-46659176-C-T |
c.3311C>T |
p.P1104L |
Missense |
1/4 |
- |
1 |
6-46659178-G-A |
c.3313G>A |
p.D1105N |
Missense |
1/4 |
- |
1 |
6-46659180-T-A |
c.3315T>A |
p.D1105E |
Missense |
1/4 |
- |
1 |
6-46659180-T-G |
c.3315T>G |
p.D1105E |
Missense |
1/4 |
- |
1 |
6-46659188-C-T |
c.3323C>T |
p.P1108L |
Missense |
1/4 |
- |
1 |
6-46659190-G-T |
c.3325G>T |
p.E1109* |
Nonsense |
1/4 |
- |
1 |
6-46659195-A-C |
c.3330A>C |
p.E1110D |
Missense |
1/4 |
- |
1 |
6-46659201-G-A |
c.3336G>A |
p.V1112= |
Synonymous |
1/4 |
- |
2 |
6-46659201-G-C |
c.3336G>C |
p.V1112= |
Synonymous |
1/4 |
- |
1 |
6-46659201-G-T |
c.3336G>T |
p.V1112= |
Synonymous |
1/4 |
- |
1 |
6-46659204-G-T |
c.3339G>T |
p.V1113= |
Synonymous |
1/4 |
- |
1 |
6-46659206-G-A |
c.3341G>A |
p.W1114* |
Nonsense |
1/4 |
- |
1 |
6-46659207-G-A |
c.3342G>A |
p.W1114* |
Nonsense |
1/4 |
- |
1 |
6-46659211-C-G |
c.3346C>G |
p.Q1116E |
Missense |
1/4 |
- |
1 |
6-46659211-C-T |
c.3346C>T |
p.Q1116* |
Nonsense |
1/4 |
- |
2 |
6-46659242-C-T |
c.3377C>T |
p.A1126V |
Missense |
1/4 |
- |
3 |
6-46659259-G-T |
c.3394G>T |
p.D1132Y |
Missense |
1/4 |
- |
1 |
6-46659262-C-T |
c.3397C>T |
p.P1133S |
Missense |
1/4 |
- |
2 |
6-46659265-G-A |
c.3400G>A |
p.D1134N |
Missense |
1/4 |
- |
1 |
6-46659280-A-G |
c.3415A>G |
p.I1139V |
Missense |
1/4 |
- |
1 |
6-46659283-G-A |
c.3418G>A |
p.E1140K |
Missense |
1/4 |
- |
1 |
6-46659285-A-C |
c.3420A>C |
p.E1140D |
Missense |
1/4 |
- |
1 |
6-46659287-T-C |
c.3422T>C |
p.L1141P |
Missense |
1/4 |
- |
1 |
6-46659292-G-C |
c.3427G>C |
p.G1143R |
Missense |
1/4 |
- |
1 |
6-46659295-G-T |
c.3430G>T |
p.D1144Y |
Missense |
1/4 |
- |
1 |
6-46659304-C-T |
c.3439C>T |
p.Q1147* |
Nonsense |
1/4 |
- |
1 |
6-46659310-A-T |
c.3445A>T |
p.S1149C |
Missense |
1/4 |
- |
1 |
6-46659314-C-T |
c.3449C>T |
p.A1150V |
Missense |
1/4 |
- |
9 |
6-46659315-T-C |
c.3450T>C |
p.A1150= |
Synonymous |
1/4 |
- |
2 |
6-46659319-A-G |
c.3454A>G |
p.I1152V |
Missense |
1/4 |
- |
1 |
6-46659321-T-G |
c.3456T>G |
p.I1152M |
Missense |
1/4 |
- |
1 |
6-46659335-G-A |
c.3470G>A |
p.G1157E |
Missense |
1/4 |
- |
1 |
6-46659343-A-G |
c.3478A>G |
p.S1160G |
Missense |
1/4 |
- |
1 |
6-46659356-G-A |
c.3491G>A |
p.R1164K |
Missense |
1/4 |
- |
6 |
6-46659360-A-AT |
c.3495_3496insT |
p.R1166* |
Nonsense |
1/4 |
- |
1 |
6-46659366-A-C |
c.3501A>C |
p.K1167N |
Missense |
1/4 |
- |
1 |
6-46659366-A-T |
c.3501A>T |
p.K1167N |
Missense |
1/4 |
- |
1 |
6-46659362-GA-G |
c.3504del |
p.E1169Kfs*19 |
Frameshift |
1/4 |
- |
1 |
6-46659376-G-A |
c.3511G>A |
p.E1171K |
Missense |
1/4 |
- |
1 |
6-46659379-G-C |
c.3514G>C |
p.V1172L |
Missense |
1/4 |
- |
2 |
6-46659389-C-T |
c.3524C>T |
p.S1175F |
Missense |
1/4 |
- |
1 |
6-46659406-G-A |
c.3541G>A |
p.E1181K |
Missense |
1/4 |
- |
1 |
6-46659408-A-AT |
c.3543_3544insT |
p.E1182* |
Nonsense |
1/4 |
- |
1 |
6-46659409-G-A |
c.3544G>A |
p.E1182K |
Missense |
1/4 |
- |
1 |
6-46659414-A-AT |
c.3549_3550insT |
p.N1184* |
Nonsense |
1/4 |
- |
1 |
6-46659415-A-T |
c.3550A>T |
p.N1184Y |
Missense |
1/4 |
- |
1 |
6-46659409-G-GA |
c.3551dup |
p.N1184Kfs*2 |
Frameshift |
1/4 |
- |
1 |
6-46659416-A-G |
c.3551A>G |
p.N1184S |
Missense |
1/4 |
- |
1 |
6-46659422-A-G |
c.3557A>G |
p.N1186S |
Missense |
1/4 |
- |
4 |
6-46659431-T-G |
c.3566T>G |
p.L1189W |
Missense |
1/4 |
- |
3 |
6-46659432-G-A |
c.3567G>A |
p.L1189= |
Synonymous |
1/4 |
- |
1 |
6-46659434-C-G |
c.3569C>G |
p.P1190R |
Missense |
1/4 |
- |
1 |
6-46659440-C-A |
c.3575C>A |
p.T1192K |
Missense |
1/4 |
- |
1 |
6-46659440-C-T |
c.3575C>T |
p.T1192I |
Missense |
1/4 |
- |
1 |
6-46659441-A-AT |
c.3576_3577insT |
p.E1193* |
Nonsense |
1/4 |
- |
1 |
6-46659448-T-G |
c.3583T>G |
p.L1195V |
Missense |
1/4 |
- |
1 |
6-46659451-A-C |
c.3586A>C |
p.S1196R |
Missense |
1/4 |
- |
2 |
6-46659452-G-A |
c.3587G>A |
p.S1196N |
Missense |
1/4 |
- |
3 |
6-46659453-T-A |
c.3588T>A |
p.S1196R |
Missense |
1/4 |
- |
1 |
6-46659453-T-G |
c.3588T>G |
p.S1196R |
Missense |
1/4 |
- |
1 |
6-46659458-C-T |
c.3593C>T |
p.S1198L |
Missense |
1/4 |
- |
4 |
6-46659463-G-T |
c.3598G>T |
p.G1200W |
Missense |
1/4 |
- |
1 |
6-46659467-A-T |
c.3602A>T |
p.Y1201F |
Missense |
1/4 |
- |
2 |
6-46659468-C-A |
c.3603C>A |
p.Y1201* |
Nonsense |
1/4 |
- |
1 |
6-46659468-C-G |
c.3603C>G |
p.Y1201* |
Nonsense |
1/4 |
- |
1 |
6-46659484-G-T |
c.3619G>T |
p.E1207* |
Nonsense |
1/4 |
- |
1 |
6-46659485-A-T |
c.3620A>T |
p.E1207V |
Missense |
1/4 |
- |
3 |
6-46659489-T-G |
c.3624T>G |
p.I1208M |
Missense |
1/4 |
- |
3 |
6-46659490-T-C |
c.3625T>C |
p.L1209= |
Synonymous |
1/4 |
- |
1 |
6-46659492-G-A |
c.3627G>A |
p.L1209= |
Synonymous |
1/4 |
- |
1 |
6-46659496-G-A |
c.3631G>A |
p.E1211K |
Missense |
1/4 |
- |
3 |
6-46659496-G-C |
c.3631G>C |
p.E1211Q |
Missense |
1/4 |
- |
1 |
6-46659498-G-C |
c.3633G>C |
p.E1211D |
Missense |
1/4 |
- |
1 |
6-46659498-G-T |
c.3633G>T |
p.E1211D |
Missense |
1/4 |
- |
1 |
6-46659508-C-T |
c.3643C>T |
p.P1215S |
Missense |
1/4 |
- |
1 |
6-46659511-C-A |
c.3646C>A |
p.Q1216K |
Missense |
1/4 |
- |
1 |
6-46659511-C-T |
c.3646C>T |
p.Q1216* |
Nonsense |
1/4 |
- |
1 |
6-46659513-G-C |
c.3648G>C |
p.Q1216H |
Missense |
1/4 |
- |
1 |
6-46659513-G-T |
c.3648G>T |
p.Q1216H |
Missense |
1/4 |
- |
1 |
6-46659518-A-T |
c.3653A>T |
p.N1218I |
Missense |
1/4 |
- |
3 |
6-46659524-C-T |
c.3659C>T |
p.S1220L |
Missense |
1/4 |
- |
1 |
6-46659525-A-G |
c.3660A>G |
p.S1220= |
Synonymous |
1/4 |
- |
1 |
6-46659527-A-G |
c.3662A>G |
p.Y1221C |
Missense |
1/4 |
- |
1 |
6-46659528-C-G |
c.3663C>G |
p.Y1221* |
Nonsense |
1/4 |
- |
1 |
6-46659534-A-G |
c.3669A>G |
p.E1223= |
Synonymous |
1/4 |
- |
1 |
6-46659542-T-C |
c.3677T>C |
p.L1226P |
Missense |
1/4 |
- |
3 |
6-46659549-A-C |
c.3684A>C |
p.Q1228H |
Missense |
1/4 |
- |
1 |
6-46659552-T-G |
c.3687T>G |
p.S1229R |
Missense |
1/4 |
- |
1 |
6-46659556-A-T |
c.3691A>T |
p.T1231S |
Missense |
1/4 |
- |
1 |
6-46659565-A-G |
c.3700A>G |
p.N1234D |
Missense |
1/4 |
- |
1 |
6-46659568-T-C |
c.3703T>C |
p.L1235= |
Synonymous |
1/4 |
- |
1 |
6-46659570-A-G |
c.3705A>G |
p.L1235= |
Synonymous |
1/4 |
- |
1 |
6-46659571-G-C |
c.3706G>C |
p.V1236L |
Missense |
1/4 |
- |
1 |
6-46659582-T-A |
c.3717T>A |
p.Y1239* |
Nonsense |
1/4 |
- |
3 |
6-46659582-T-G |
c.3717T>G |
p.Y1239* |
Nonsense |
1/4 |
- |
3 |
6-46659583-C-T |
c.3718C>T |
p.Q1240* |
Nonsense |
1/4 |
- |
1 |
6-46659592-G-A |
c.3727G>A |
p.V1243M |
Missense |
1/4 |
- |
3 |
6-46659605-A-G |
c.3740A>G |
p.N1247S |
Missense |
1/4 |
- |
4 |
6-46659605-A-AT |
c.3741dup |
p.S1248* |
Nonsense |
1/4 |
- |
1 |
6-46659613-G-A |
c.3748G>A |
p.V1250M |
Missense |
1/4 |
- |
1 |
6-46659616-T-C |
c.3751T>C |
p.F1251L |
Missense |
1/4 |
- |
2 |
6-46659618-T-A |
c.3753T>A |
p.F1251L |
Missense |
1/4 |
- |
2 |
6-46659617-T-G |
c.3752T>G |
p.F1251C |
Missense |
1/4 |
- |
1 |
6-46659618-T-G |
c.3753T>G |
p.F1251L |
Missense |
1/4 |
- |
3 |
6-46659619-C-T |
c.3754C>T |
p.P1252S |
Missense |
1/4 |
- |
3 |
6-46659620-C-T |
c.3755C>T |
p.P1252L |
Missense |
1/4 |
- |
3 |
6-46659621-A-C |
c.3756A>C |
p.P1252= |
Synonymous |
1/4 |
- |
1 |
6-46659621-A-G |
c.3756A>G |
p.P1252= |
Synonymous |
1/4 |
- |
1 |
6-46659621-A-T |
c.3756A>T |
p.P1252= |
Synonymous |
1/4 |
- |
1 |
6-46659625-A-C |
c.3760A>C |
p.T1254P |
Missense |
1/4 |
- |
1 |
6-46659636-G-C |
c.3771G>C |
p.K1257N |
Missense |
1/4 |
- |
1 |
6-46659636-G-T |
c.3771G>T |
p.K1257N |
Missense |
1/4 |
- |
1 |
6-46659643-G-T |
c.3778G>T |
p.E1260* |
Nonsense |
1/4 |
- |
3 |
6-46659650-C-T |
c.3785C>T |
p.S1262F |
Missense |
1/4 |
- |
4 |
6-46659653-C-T |
c.3788C>T |
p.A1263V |
Missense |
1/4 |
- |
1 |
6-46659662-C-A |
c.3797C>A |
p.P1266H |
Missense |
1/4 |
- |
1 |
6-46659662-C-G |
c.3797C>G |
p.P1266R |
Missense |
1/4 |
- |
3 |
6-46659662-C-T |
c.3797C>T |
p.P1266L |
Missense |
1/4 |
- |
7 |
6-46659663-C-A |
c.3798C>A |
p.P1266= |
Synonymous |
1/4 |
- |
2 |
6-46659663-C-G |
c.3798C>G |
p.P1266= |
Synonymous |
1/4 |
- |
2 |
6-46659663-C-T |
c.3798C>T |
p.P1266= |
Synonymous |
1/4 |
- |
4 |
6-46659671-C-G |
c.3806C>G |
p.T1269R |
Missense |
1/4 |
- |
3 |
6-46659672-A-C |
c.3807A>C |
p.T1269= |
Synonymous |
1/4 |
- |
1 |
6-46659672-A-G |
c.3807A>G |
p.T1269= |
Synonymous |
1/4 |
- |
1 |
6-46659672-A-T |
c.3807A>T |
p.T1269= |
Synonymous |
1/4 |
- |
1 |
6-46659677-G-C |
c.3812G>C |
p.R1271T |
Missense |
1/4 |
- |
3 |
6-46659685-G-A |
c.3820G>A |
p.A1274T |
Missense |
1/4 |
- |
1 |
6-46659688-A-C |
c.3823A>C |
p.T1275P |
Missense |
1/4 |
- |
2 |
6-46659689-C-T |
c.3824C>T |
p.T1275I |
Missense |
1/4 |
- |
3 |
6-46659695-C-T |
c.3830C>T |
p.S1277L |
Missense |
1/4 |
- |
3 |
6-46659699-G-A |
c.3834G>A |
p.E1278= |
Synonymous |
1/4 |
- |
2 |
6-46659699-G-C |
c.3834G>C |
p.E1278D |
Missense |
1/4 |
- |
1 |
6-46659699-G-GT |
c.3834_3835insT |
p.R1279* |
Nonsense |
1/4 |
- |
1 |
6-46659699-G-T |
c.3834G>T |
p.E1278D |
Missense |
1/4 |
- |
1 |
6-46659701-G-C |
c.3836G>C |
p.R1279T |
Missense |
1/4 |
- |
1 |
6-46659701-G-GA |
c.3841dup |
p.I1281Nfs*6 |
Frameshift |
1/4 |
- |
1 |
6-46659709-G-A |
c.3844G>A |
p.G1282R |
Missense |
1/4 |
- |
1 |
6-46659707-TAGG-T |
c.3845_3847del |
p.G1282del |
InFrameDeletion |
1/4 |
- |
1 |
6-46659710-G-A |
c.3845G>A |
p.G1282E |
Missense |
1/4 |
- |
1 |
6-46659716-C-A |
c.3851C>A |
p.S1284* |
Nonsense |
1/4 |
- |
2 |
6-46659716-C-G |
c.3851C>G |
p.S1284* |
Nonsense |
1/4 |
- |
1 |
6-46659721-G-T |
c.3856G>T |
p.D1286Y |
Missense |
1/4 |
- |
2 |
6-46659727-G-T |
c.3862G>T |
p.D1288Y |
Missense |
1/4 |
- |
3 |
6-46659730-TTG-ATC |
c.3865_3867delinsATC |
p.L1289I |
Missense |
1/4 |
- |
1 |
6-46659742-T-C |
c.3877T>C |
p.F1293L |
Missense |
1/4 |
- |
1 |
6-46659744-T-A |
c.3879T>A |
p.F1293L |
Missense |
1/4 |
- |
1 |
6-46659744-T-G |
c.3879T>G |
p.F1293L |
Missense |
1/4 |
- |
1 |
6-46659750-G-A |
c.3885G>A |
p.E1295= |
Synonymous |
1/4 |
- |
2 |
6-46659750-G-C |
c.3885G>C |
p.E1295D |
Missense |
1/4 |
- |
2 |
6-46659750-G-T |
c.3885G>T |
p.E1295D |
Missense |
1/4 |
- |
2 |
6-46659760-A-C |
c.3895A>C |
p.K1299Q |
Missense |
1/4 |
- |
1 |
6-46659762-G-T |
c.3897G>T |
p.K1299N |
Missense |
1/4 |
- |
2 |
6-46659768-A-G |
c.3903A>G |
p.I1301M |
Missense |
1/4 |
- |
1 |
6-46659769-A-C |
c.3904A>C |
p.M1302L |
Missense |
1/4 |
- |
1 |
6-46659769-A-T |
c.3904A>T |
p.M1302L |
Missense |
1/4 |
- |
1 |
6-46659771-G-A |
c.3906G>A |
p.M1302I |
Missense |
1/4 |
- |
1 |
6-46659771-G-C |
c.3906G>C |
p.M1302I |
Missense |
1/4 |
- |
1 |
6-46659771-G-T |
c.3906G>T |
p.M1302I |
Missense |
1/4 |
- |
1 |
6-46659773-C-T |
c.3908C>T |
p.P1303L |
Missense |
1/4 |
- |
1 |
6-46659780-T-G |
c.3915T>G |
p.F1305L |
Missense |
1/4 |
- |
1 |
6-46659781-A-T |
c.3916A>T |
p.K1306* |
Nonsense |
1/4 |
- |
2 |
6-46659800-C-A |
c.3935C>A |
p.S1312Y |
Missense |
1/4 |
- |
4 |
6-46659832-C-A |
c.3967C>A |
p.Q1323K |
Missense |
1/4 |
- |
1 |
6-46659836-T-G |
c.3971T>G |
p.L1324R |
Missense |
1/4 |
- |
1 |
6-46659847-G-A |
c.3982G>A |
p.E1328K |
Missense |
1/4 |
- |
1 |
6-46659849-A-G |
c.3984A>G |
p.E1328= |
Synonymous |
1/4 |
- |
2 |
6-46659850-G-T |
c.3985G>T |
p.A1329S |
Missense |
1/4 |
- |
1 |
6-46659866-T-C |
c.4001T>C |
p.L1334P |
Missense |
1/4 |
- |
1 |
6-46659871-G-C |
c.4006G>C |
p.E1336Q |
Missense |
1/4 |
- |
1 |
6-46659871-G-T |
c.4006G>T |
p.E1336* |
Nonsense |
1/4 |
- |
1 |
6-46659874-A-G |
c.4009A>G |
p.R1337G |
Missense |
1/4 |
- |
2 |
6-46659875-G-A |
c.4010G>A |
p.R1337K |
Missense |
1/4 |
- |
2 |
6-46659879-A-G |
c.4014A>G |
p.L1338= |
Synonymous |
1/4 |
- |
1 |
6-46659882-C-A |
c.4017C>A |
p.N1339K |
Missense |
1/4 |
- |
1 |
6-46659882-C-G |
c.4017C>G |
p.N1339K |
Missense |
1/4 |
- |
1 |
6-46659893-CA-TG |
c.4028_4029inv |
p.T1343M |
Missense |
1/4 |
- |
1 |
6-46659897-G-A |
c.4032G>A |
p.R1344= |
Synonymous |
1/4 |
- |
2 |
6-46659900-C-A |
c.4035C>A |
p.P1345= |
Synonymous |
1/4 |
- |
1 |
6-46659900-C-G |
c.4035C>G |
p.P1345= |
Synonymous |
1/4 |
- |
1 |
6-46659900-C-T |
c.4035C>T |
p.P1345= |
Synonymous |
1/4 |
- |
2 |
6-46659901-G-A |
c.4036G>A |
p.E1346K |
Missense |
1/4 |
- |
2 |
6-46659914-G-C |
c.4049G>C |
p.G1350A |
Missense |
1/4 |
- |
1 |
6-46659919-C-A |
c.4054C>A |
p.P1352T |
Missense |
1/4 |
- |
1 |
6-46659919-C-T |
c.4054C>T |
p.P1352S |
Missense |
1/4 |
- |
1 |
6-46659920-C-T |
c.4055C>T |
p.P1352L |
Missense |
1/4 |
- |
1 |
6-46659932-G-C |
c.4067G>C |
p.G1356A |
Missense |
1/4 |
- |
1 |
6-46659934-G-A |
c.4069G>A |
p.D1357N |
Missense |
1/4 |
- |
1 |
6-46659939-G-A |
c.4074G>A |
p.M1358I |
Missense |
1/4 |
- |
3 |
6-46659939-G-C |
c.4074G>C |
p.M1358I |
Missense |
1/4 |
- |
3 |
6-46659939-G-T |
c.4074G>T |
p.M1358I |
Missense |
1/4 |
- |
3 |
6-46659933-AGATAT-A |
c.4075_4079del |
p.I1359Cfs*7 |
Frameshift |
1/4 |
- |
2 |
6-46659943-T-C |
c.4078T>C |
p.C1360R |
Missense |
1/4 |
- |
3 |
6-46659944-G-A |
c.4079G>A |
p.C1360Y |
Missense |
1/4 |
- |
1 |
6-46659945-T-C |
c.4080T>C |
p.C1360= |
Synonymous |
1/4 |
- |
2 |
6-46659947-C-A |
c.4082C>A |
p.A1361D |
Missense |
1/4 |
- |
1 |
6-46659947-C-T |
c.4082C>T |
p.A1361V |
Missense |
1/4 |
- |
1 |
6-46659955-C-T |
c.4090C>T |
p.P1364S |
Missense |
1/4 |
- |
1 |
6-46659956-C-T |
c.4091C>T |
p.P1364L |
Missense |
1/4 |
- |
1 |
6-46659962-A-G |
c.4097A>G |
p.D1366G |
Missense |
1/4 |
- |
1 |
6-46659963-T-A |
c.4098T>A |
p.D1366E |
Missense |
1/4 |
- |
1 |
6-46659963-T-G |
c.4098T>G |
p.D1366E |
Missense |
1/4 |
- |
1 |
6-46659966-T-A |
c.4101T>A |
p.N1367K |
Missense |
1/4 |
- |
1 |
6-46659966-T-C |
c.4101T>C |
p.N1367= |
Synonymous |
1/4 |
- |
1 |
6-46659969-A-C |
c.4104A>C |
p.L1368F |
Missense |
1/4 |
- |
1 |
6-46659969-A-T |
c.4104A>T |
p.L1368F |
Missense |
1/4 |
- |
1 |
6-46659971-G-T |
c.4106G>T |
p.W1369L |
Missense |
1/4 |
- |
1 |
6-46659974-A-T |
c.4109A>T |
p.Y1370F |
Missense |
1/4 |
- |
1 |
6-46659976-C-T |
c.4111C>T |
p.R1371C |
Missense |
1/4 |
- |
2 |
6-46659980-C-T |
c.4115C>T |
p.A1372V |
Missense |
1/4 |
- |
1 |
6-46659991-G-A |
c.4126G>A |
p.E1376K |
Missense |
1/4 |
- |
1 |
6-46659994-C-A |
c.4129C>A |
p.Q1377K |
Missense |
1/4 |
- |
2 |
6-46660000-C-T |
c.4135C>T |
p.P1379S |
Missense |
1/4 |
- |
1 |
6-46660014-C-A |
c.4149C>A |
p.L1383= |
Synonymous |
1/4 |
- |
1 |
6-46660014-C-G |
c.4149C>G |
p.L1383= |
Synonymous |
1/4 |
- |
1 |
6-46660014-C-T |
c.4149C>T |
p.L1383= |
Synonymous |
1/4 |
- |
1 |
6-46660015-T-C |
c.4150T>C |
p.S1384P |
Missense |
1/4 |
- |
1 |
6-46660015-TC-AA |
c.4150_4151delinsAA |
p.S1384N |
Missense |
1/4 |
- |
1 |
6-46660020-G-A |
c.4155G>A |
p.V1385= |
Synonymous |
1/4 |
- |
3 |
6-46660020-G-C |
c.4155G>C |
p.V1385= |
Synonymous |
1/4 |
- |
2 |
6-46660020-G-T |
c.4155G>T |
p.V1385= |
Synonymous |
1/4 |
- |
2 |
6-46660022-A-G |
c.4157A>G |
p.Q1386R |
Missense |
1/4 |
- |
2 |
6-46660024-T-C |
c.4159T>C |
p.F1387L |
Missense |
1/4 |
- |
2 |
6-46660026-T-A |
c.4161T>A |
p.F1387L |
Missense |
1/4 |
- |
2 |
6-46660026-T-G |
c.4161T>G |
p.F1387L |
Missense |
1/4 |
- |
4 |
6-46660025-T-G |
c.4160T>G |
p.F1387C |
Missense |
1/4 |
- |
1 |
6-46660026-T-C |
c.4161T>C |
p.F1387= |
Synonymous |
1/4 |
- |
1 |
6-46660029-A-G |
c.4164A>G |
p.I1388M |
Missense |
1/4 |
- |
1 |
6-46660030-G-C |
c.4165G>C |
p.D1389H |
Missense |
1/4 |
- |
1 |
6-46660031-A-C |
c.4166A>C |
p.D1389A |
Missense |
1/4 |
- |
1 |
6-46660032-T-C |
c.4167T>C |
p.D1389= |
Synonymous |
1/4 |
- |
1 |
6-46660036-G-A |
c.4171G>A |
p.G1391S |
Missense |
1/4 |
- |
1 |
6-46660036-G-T |
c.4171G>T |
p.G1391C |
Missense |
1/4 |
- |
1 |
6-46660038-C-A |
c.4173C>A |
p.G1391= |
Synonymous |
1/4 |
- |
1 |
6-46660038-C-G |
c.4173C>G |
p.G1391= |
Synonymous |
1/4 |
- |
1 |
6-46660038-C-T |
c.4173C>T |
p.G1391= |
Synonymous |
1/4 |
- |
1 |
6-46660041-T-C |
c.4176T>C |
p.N1392= |
Synonymous |
1/4 |
- |
1 |
6-46660043-T-A |
c.4178T>A |
p.V1393D |
Missense |
1/4 |
- |
2 |
6-46660052-T-C |
c.4187T>C |
p.V1396A |
Missense |
1/4 |
- |
1 |
6-46660057-A-C |
c.4192A>C |
p.T1398P |
Missense |
1/4 |
- |
1 |
6-46660057-A-G |
c.4192A>G |
p.T1398A |
Missense |
1/4 |
- |
1 |
6-46660058-C-T |
c.4193C>T |
p.T1398I |
Missense |
1/4 |
- |
2 |
6-46660061-A-G |
c.4196A>G |
p.N1399S |
Missense |
1/4 |
- |
5 |
6-46660069-G-T |
c.4204G>T |
p.G1402C |
Missense |
1/4 |
- |
3 |
6-46660088-A-G |
c.4223A>G |
p.N1408S |
Missense |
1/4 |
- |
1 |
6-46660089-T-G |
c.4224T>G |
p.N1408K |
Missense |
1/4 |
- |
1 |
6-46660090-G-A |
c.4225G>A |
p.A1409T |
Missense |
1/4 |
- |
1 |
6-46660093-A-C |
c.4228A>C |
p.I1410L |
Missense |
1/4 |
- |
1 |
6-46660093-A-G |
c.4228A>G |
p.I1410V |
Missense |
1/4 |
- |
3 |
6-46660093-A-T |
c.4228A>T |
p.I1410L |
Missense |
1/4 |
- |
2 |
6-46660095-A-C |
c.4230A>C |
p.I1410= |
Synonymous |
1/4 |
- |
1 |
6-46660095-A-T |
c.4230A>T |
p.I1410= |
Synonymous |
1/4 |
- |
1 |
6-46660096-T-C |
c.4231T>C |
p.L1411= |
Synonymous |
1/4 |
- |
1 |
6-46660098-G-A |
c.4233G>A |
p.L1411= |
Synonymous |
1/4 |
- |
1 |
6-46660099-C-G |
c.4234C>G |
p.P1412A |
Missense |
1/4 |
- |
1 |
6-46660100-C-G |
c.4235C>G |
p.P1412R |
Missense |
1/4 |
- |
1 |
6-46660100-C-T |
c.4235C>T |
p.P1412L |
Missense |
1/4 |
- |
1 |
6-46660102-G-T |
c.4237G>T |
p.G1413W |
Missense |
1/4 |
- |
1 |
6-46660106-T-C |
c.4241T>C |
p.L1414S |
Missense |
1/4 |
- |
3 |
6-46660119-C-T |
c.4254C>T |
p.C1418= |
Synonymous |
1/4 |
- |
3 |
6-46660120-T-C |
c.4255T>C |
p.S1419P |
Missense |
1/4 |
- |
3 |
6-46660121-CC-AA |
c.4256_4257delinsAA |
p.S1419* |
Nonsense |
1/4 |
- |
1 |
6-46660122-C-T |
c.4257C>T |
p.S1419= |
Synonymous |
1/4 |
- |
1 |
6-46660124-T-C |
c.4259T>C |
p.L1420S |
Missense |
1/4 |
- |
1 |
6-46660126-C-T |
c.4261C>T |
p.Q1421* |
Nonsense |
1/4 |
- |
1 |
6-46660127-A-G |
c.4262A>G |
p.Q1421R |
Missense |
1/4 |
- |
1 |
6-46660141-C-A |
c.4276C>A |
p.P1426T |
Missense |
1/4 |
- |
1 |
6-46660141-TCCTGACAATAAAAA-T |
c.4276_4289del |
p.P1426Ffs*2 |
Frameshift |
1/4 |
- |
1 |
6-46660147-A-T |
c.4282A>T |
p.N1428Y |
Missense |
1/4 |
- |
2 |
6-46660151-A-C |
c.4286A>C |
p.K1429T |
Missense |
1/4 |
- |
1 |
6-46660152-A-G |
c.4287A>G |
p.K1429= |
Synonymous |
1/4 |
- |
1 |
6-46660153-A-G |
c.4288A>G |
p.N1430D |
Missense |
1/4 |
- |
1 |
6-46660154-A-T |
c.4289A>T |
p.N1430I |
Missense |
1/4 |
- |
3 |
6-46660157-C-A |
c.4292C>A |
p.S1431Y |
Missense |
1/4 |
- |
1 |
6-46660157-C-G |
c.4292C>G |
p.S1431C |
Missense |
1/4 |
- |
1 |
6-46660160-A-G |
c.4295A>G |
p.K1432R |
Missense |
1/4 |
- |
8 |
6-46660161-G-A |
c.4296G>A |
p.K1432= |
Synonymous |
1/4 |
- |
1 |
6-46660171-C-T |
c.4306C>T |
p.H1436Y |
Missense |
1/4 |
- |
2 |
6-46660172-A-G |
c.4307A>G |
p.H1436R |
Missense |
1/4 |
- |
2 |
6-46660181-C-T |
c.4316C>T |
p.S1439F |
Missense |
1/4 |
- |
2 |
6-46660186-C-A |
c.4321C>A |
p.R1441= |
Synonymous |
1/4 |
- |
1 |
6-46660186-C-T |
c.4321C>T |
p.R1441W |
Missense |
1/4 |
- |
1 |
6-46660187-G-A |
c.4322G>A |
p.R1441Q |
Missense |
1/4 |
- |
3 |
6-46660187-G-T |
c.4322G>T |
p.R1441L |
Missense |
1/4 |
- |
1 |
6-46660189-A-G |
c.4324A>G |
p.T1442A |
Missense |
1/4 |
- |
2 |
6-46660192-A-G |
c.4327A>G |
p.S1443G |
Missense |
1/4 |
- |
1 |
6-46660194-C-T |
c.4329C>T |
p.S1443= |
Synonymous |
1/4 |
- |
1 |
6-46660195-G-A |
c.4330G>A |
p.E1444K |
Missense |
1/4 |
- |
2 |
6-46660202-CA-AC |
c.4337_4338delinsAC |
p.A1446D |
Missense |
1/4 |
- |
1 |
6-46660213-G-T |
c.4348G>T |
p.E1450* |
Nonsense |
1/4 |
- |
3 |
6-46660215-A-G |
c.4350A>G |
p.E1450= |
Synonymous |
1/4 |
- |
1 |
6-46660228-C-T |
c.4363C>T |
p.Q1455* |
Nonsense |
1/4 |
- |
4 |
6-46660234-A-G |
c.4369A>G |
p.R1457G |
Missense |
1/4 |
- |
1 |
6-46660234-CAGAT-C |
c.4369_4372del |
p.R1457Gfs*12 |
Frameshift |
1/4 |
- |
3 |
6-46660235-G-A |
c.4370G>A |
p.R1457K |
Missense |
1/4 |
- |
1 |
6-46660235-G-C |
c.4370G>C |
p.R1457T |
Missense |
1/4 |
- |
1 |
6-46660235-G-T |
c.4370G>T |
p.R1457I |
Missense |
1/4 |
- |
1 |
6-46660240-G-A |
c.4375G>A |
p.E1459K |
Missense |
1/4 |
- |
1 |
6-46660241-A-T |
c.4376A>T |
p.E1459V |
Missense |
1/4 |
- |
2 |
6-46660247-T-C |
c.4382T>C |
p.I1461T |
Missense |
1/4 |
- |
1 |
6-46660249-C-T |
c.4384C>T |
p.L1462F |
Missense |
1/4 |
- |
2 |
6-46660255-TG-T |
c.4390del |
p.D1464Mfs*6 |
Frameshift |
1/4 |
- |
1 |
6-46660256-A-C |
c.4391A>C |
p.D1464A |
Missense |
1/4 |
- |
2 |
6-46660274-C-T |
c.4409C>T |
p.A1470V |
Missense |
1/4 |
- |
2 |
6-46660298-C-T |
c.4433C>T |
p.A1478V |
Missense |
1/4 |
- |
4 |
6-46660315-C-G |
c.4450C>G |
p.Q1484E |
Missense |
1/4 |
- |
1 |
6-46660316-A-G |
c.4451A>G |
p.Q1484R |
Missense |
1/4 |
- |
1 |
6-46660321-G-C |
c.4456G>C |
p.E1486Q |
Missense |
1/4 |
- |
2 |
6-46660326-T-A |
c.4461T>A |
p.L1487= |
Synonymous |
1/4 |
- |
3 |
6-46660331-C-A |
c.4466C>A |
p.T1489N |
Missense |
1/4 |
- |
1 |
6-46660332-C-A |
c.4467C>A |
p.T1489= |
Synonymous |
1/4 |
- |
2 |
6-46660346-G-C |
c.4481G>C |
p.S1494T |
Missense |
1/4 |
- |
2 |
6-46660347-T-C |
c.4482T>C |
p.S1494= |
Synonymous |
1/4 |
- |
1 |
6-46660358-A-T |
c.4493A>T |
p.K1498M |
Missense |
1/4 |
- |
1 |
6-46660361-C-A |
c.4496C>A |
p.S1499Y |
Missense |
1/4 |
- |
1 |
6-46660361-C-T |
c.4496C>T |
p.S1499F |
Missense |
1/4 |
- |
4 |
6-46660366-A-T |
c.4501A>T |
p.N1501Y |
Missense |
1/4 |
- |
1 |
6-46660381-G-C |
c.4516G>C |
p.D1506H |
Missense |
1/4 |
- |
1 |
6-46660387-TC-GT |
c.4522_4523delinsGT |
p.S1508V |
Missense |
1/4 |
- |
1 |
6-46660388-CA-TT |
c.4523_4524delinsTT |
p.S1508F |
Missense |
1/4 |
- |
1 |
6-46660392-A-C |
c.4527A>C |
p.V1509= |
Synonymous |
1/4 |
- |
1 |
6-46660392-A-G |
c.4527A>G |
p.V1509= |
Synonymous |
1/4 |
- |
1 |
6-46660392-A-T |
c.4527A>T |
p.V1509= |
Synonymous |
1/4 |
- |
1 |
6-46660396-C-A |
c.4531C>A |
p.L1511I |
Missense |
1/4 |
- |
2 |
6-46660403-G-T |
c.4538G>T |
p.W1513L |
Missense |
1/4 |
- |
1 |
6-46660413-A-AT |
c.4548_4549insT |
p.E1517* |
Nonsense |
1/4 |
- |
8 |
6-46660415-A-G |
c.4550A>G |
p.E1517G |
Missense |
1/4 |
- |
2 |
6-46660421-A-AAT |
c.4557_4558insTA |
p.M1520* |
Nonsense |
1/4 |
- |
1 |
6-46660422-A-T |
c.4557A>T |
p.K1519N |
Missense |
1/4 |
- |
1 |
6-46660414-GA-G |
c.4558del |
p.M1520* |
Frameshift |
1/4 |
- |
4 |
6-46660414-G-GA |
c.4558dup |
p.M1520Nfs*13 |
Frameshift |
1/4 |
- |
10 |
6-46660423-AT-TA |
c.4558_4559delinsTA |
p.M1520* |
Nonsense |
1/4 |
- |
1 |
6-46660430-G-A |
c.4565G>A |
p.R1522K |
Missense |
1/4 |
- |
1 |
6-46660441-A-G |
c.4576A>G |
p.T1526A |
Missense |
1/4 |
- |
3 |
6-46660444-G-T |
c.4579G>T |
p.V1527L |
Missense |
1/4 |
- |
1 |
6-46660449-A-C |
c.4584A>C |
p.I1528= |
Synonymous |
1/4 |
- |
1 |
6-46660449-A-T |
c.4584A>T |
p.I1528= |
Synonymous |
1/4 |
- |
1 |
6-46660450-G-T |
c.4585G>T |
p.D1529Y |
Missense |
1/4 |
- |
1 |
6-46660464-C-A |
c.4599C>A |
p.Y1533* |
Nonsense |
1/4 |
- |
2 |
6-46660464-C-G |
c.4599C>G |
p.Y1533* |
Nonsense |
1/4 |
- |
1 |
6-46660464-C-T |
c.4599C>T |
p.Y1533= |
Synonymous |
1/4 |
- |
1 |
6-46660469-G-A |
c.4604G>A |
p.W1535* |
Nonsense |
1/4 |
- |
1 |
6-46660475-A-G |
c.4610A>G |
p.Q1537R |
Missense |
1/4 |
- |
1 |
6-46660483-G-A |
c.4618G>A |
p.D1540N |
Missense |
1/4 |
- |
3 |
6-46660487-C-T |
c.4622C>T |
p.T1541M |
Missense |
1/4 |
- |
2 |
6-46660488-G-A |
c.4623G>A |
p.T1541= |
Synonymous |
1/4 |
- |
1 |
6-46660489-G-A |
c.4624G>A |
p.E1542K |
Missense |
1/4 |
- |
4 |
6-46660491-G-C |
c.4626G>C |
p.E1542D |
Missense |
1/4 |
- |
1 |
6-46660495-C-T |
c.4630C>T |
p.L1544F |
Missense |
1/4 |
- |
2 |
6-46660496-T-C |
c.4631T>C |
p.L1544P |
Missense |
1/4 |
- |
1 |
6-46660498-C-T |
c.4633C>T |
p.Q1545* |
Nonsense |
1/4 |
- |
5 |
6-46660501-T-C |
c.4636T>C |
p.C1546R |
Missense |
1/4 |
- |
1 |
6-46660510-G-C |
c.4645G>C |
p.V1549L |
Missense |
1/4 |
- |
2 |
6-46660510-G-T |
c.4645G>T |
p.V1549L |
Missense |
1/4 |
- |
2 |
6-46660511-T-A |
c.4646T>A |
p.V1549E |
Missense |
1/4 |
- |
2 |
6-46660512-A-C |
c.4647A>C |
p.V1549= |
Synonymous |
1/4 |
- |
1 |
6-46660512-A-G |
c.4647A>G |
p.V1549= |
Synonymous |
1/4 |
- |
1 |
6-46660512-A-T |
c.4647A>T |
p.V1549= |
Synonymous |
1/4 |
- |
1 |
6-46660525-G-A |
c.4660G>A |
p.A1554T |
Missense |
1/4 |
- |
1 |
6-46660536-G-C |
c.4671G>C |
p.Q1557H |
Missense |
1/4 |
- |
1 |
6-46660536-G-T |
c.4671G>T |
p.Q1557H |
Missense |
1/4 |
- |
3 |
6-46660537-G-A |
c.4672G>A |
p.V1558I |
Missense |
1/4 |
- |
1 |
6-46660541-C-A |
c.4676C>A |
p.A1559E |
Missense |
1/4 |
- |
3 |
6-46660547-G-C |
c.4682G>C |
p.R1561T |
Missense |
1/4 |
- |
1 |
6-46660553-A-G |
c.4688A>G |
p.N1563S |
Missense |
1/4 |
- |
1 |
6-46660554-T-A |
c.4689T>A |
p.N1563K |
Missense |
1/4 |
- |
1 |
6-46660554-T-G |
c.4689T>G |
p.N1563K |
Missense |
1/4 |
- |
1 |
6-46660562-C-T |
c.4697C>T |
p.P1566L |
Missense |
1/4 |
- |
1 |
6-46660568-C-A |
c.4703C>A |
p.P1568H |
Missense |
1/4 |
- |
4 |
6-46660576-G-A |
c.4711G>A |
p.G1571R |
Missense |
1/4 |
- |
1 |
6-46660576-G-C |
c.4711G>C |
p.G1571R |
Missense |
1/4 |
- |
1 |
6-46660579-G-T |
c.4714G>T |
p.D1572Y |
Missense |
1/4 |
- |
1 |
6-46660583-C-T |
c.4718C>T |
p.P1573L |
Missense |
1/4 |
- |
1 |
6-46660584-T-C |
c.4719T>C |
p.P1573= |
Synonymous |
1/4 |
- |
1 |
6-46660585-TGTATA-T |
c.4724_4728del |
p.I1575Kfs*10 |
Frameshift |
1/4 |
- |
1 |
6-46660599-C-A |
c.4734C>A |
p.Y1578* |
Nonsense |
1/4 |
- |
1 |
6-46660599-C-G |
c.4734C>G |
p.Y1578* |
Nonsense |
1/4 |
- |
1 |
6-46660606-G-T |
c.4741G>T |
p.D1581Y |
Missense |
1/4 |
- |
1 |
6-46660616-A-T |
c.4751A>T |
p.Y1584F |
Missense |
1/4 |
- |
7 |
6-46660627-C-G |
c.4762C>G |
p.L1588V |
Missense |
1/4 |
- |
2 |
6-46660636-A-C |
c.4771A>C |
p.N1591H |
Missense |
1/4 |
- |
1 |
6-46660637-A-C |
c.4772A>C |
p.N1591T |
Missense |
1/4 |
- |
3 |
6-46660641-T-A |
c.4776T>A |
p.I1592= |
Synonymous |
1/4 |
- |
1 |
6-46660641-T-C |
c.4776T>C |
p.I1592= |
Synonymous |
1/4 |
- |
1 |
6-46660645-G-A |
c.4780G>A |
p.E1594K |
Missense |
1/4 |
- |
1 |
6-46660650-T-A |
c.4785T>A |
p.D1595E |
Missense |
1/4 |
- |
1 |
6-46660650-T-G |
c.4785T>G |
p.D1595E |
Missense |
1/4 |
- |
1 |
6-46660657-G-A |
c.4792G>A |
p.V1598I |
Missense |
1/4 |
- |
2 |
6-46660662-T-A |
c.4797T>A |
p.S1599= |
Synonymous |
1/4 |
- |
1 |
6-46660662-T-C |
c.4797T>C |
p.S1599= |
Synonymous |
1/4 |
- |
1 |
6-46660662-T-G |
c.4797T>G |
p.S1599= |
Synonymous |
1/4 |
- |
1 |
6-46660665-C-CT |
c.4800_4801insT |
p.R1601* |
Nonsense |
1/4 |
- |
1 |
6-46660675-G-A |
c.4810G>A |
p.D1604N |
Missense |
1/4 |
- |
1 |
6-46660678-T-C |
c.4813T>C |
p.F1605L |
Missense |
1/4 |
- |
1 |
6-46660680-T-A |
c.4815T>A |
p.F1605L |
Missense |
1/4 |
- |
1 |
6-46660680-T-G |
c.4815T>G |
p.F1605L |
Missense |
1/4 |
- |
1 |
6-46660688-T-A |
c.4823T>A |
p.I1608N |
Missense |
1/4 |
- |
2 |
6-46660692-A-G |
c.4827A>G |
p.E1609= |
Synonymous |
1/4 |
- |
3 |
6-46660697-G-A |
c.4832G>A |
p.C1611Y |
Missense |
1/4 |
- |
1 |
6-46660704-C-A |
c.4839C>A |
p.D1613E |
Missense |
1/4 |
- |
1 |
6-46660704-C-T |
c.4839C>T |
p.D1613= |
Synonymous |
1/4 |
- |
2 |
6-46660714-C-T |
c.4849C>T |
p.L1617F |
Missense |
1/4 |
- |
2 |
6-46660716-C-G |
c.4851C>G |
p.L1617= |
Synonymous |
1/4 |
- |
1 |
6-46660720-G-A |
c.4855G>A |
p.A1619T |
Missense |
1/4 |
- |
1 |
6-46660721-C-T |
c.4856C>T |
p.A1619V |
Missense |
1/4 |
- |
3 |
6-46660726-C-T |
c.4861C>T |
p.P1621S |
Missense |
1/4 |
- |
1 |
6-46660733-A-C |
c.4868A>C |
p.E1623A |
Missense |
1/4 |
- |
1 |
6-46660740-G-C |
c.4875G>C |
p.L1625= |
Synonymous |
1/4 |
- |
1 |
6-46660742-C-T |
c.4877C>T |
p.S1626L |
Missense |
1/4 |
- |
2 |
6-46660743-G-A |
c.4878G>A |
p.S1626= |
Synonymous |
1/4 |
- |
2 |
6-46660744-G-A |
c.4879G>A |
p.V1627I |
Missense |
1/4 |
- |
1 |
6-46660747-C-G |
c.4882C>G |
p.P1628A |
Missense |
1/4 |
- |
2 |
6-46660749-C-T |
c.4884C>T |
p.P1628= |
Synonymous |
1/4 |
- |
1 |
6-46660755-A-C |
c.4890A>C |
p.Q1630H |
Missense |
1/4 |
- |
1 |
6-46660756-GCCTTT-G |
c.4894_4898del |
p.F1632Mfs*7 |
Frameshift |
1/4 |
- |
1 |
6-46660762-C-T |
c.4897C>T |
p.P1633S |
Missense |
1/4 |
- |
1 |
6-46660763-C-T |
c.4898C>T |
p.P1633L |
Missense |
1/4 |
- |
2 |
6-46660765-T-C |
c.4900T>C |
p.C1634R |
Missense |
1/4 |
- |
1 |
6-46660768-T-G |
c.4903T>G |
p.C1635G |
Missense |
1/4 |
- |
1 |
6-46660769-G-T |
c.4904G>T |
p.C1635F |
Missense |
1/4 |
- |
2 |
6-46660776-A-C |
c.4911A>C |
p.S1637= |
Synonymous |
1/4 |
- |
1 |
6-46660776-A-G |
c.4911A>G |
p.S1637= |
Synonymous |
1/4 |
- |
2 |
6-46660776-A-T |
c.4911A>T |
p.S1637= |
Synonymous |
1/4 |
- |
1 |
6-46660777-G-A |
c.4912G>A |
p.G1638R |
Missense |
1/4 |
- |
1 |
6-46660784-A-G |
c.4919A>G |
p.N1640S |
Missense |
1/4 |
- |
1 |
6-46660792-G-C |
c.4927G>C |
p.E1643Q |
Missense |
1/4 |
- |
1 |
6-46660799-T-A |
c.4934T>A |
p.L1645* |
Nonsense |
1/4 |
- |
1 |
6-46660799-T-G |
c.4934T>G |
p.L1645* |
Nonsense |
1/4 |
- |
1 |
6-46660801-TG-AC |
c.4936_4937delinsAC |
p.C1646T |
Missense |
1/4 |
- |
1 |
6-46660803-T-C |
c.4938T>C |
p.C1646= |
Synonymous |
1/4 |
- |
1 |
6-46660805-C-A |
c.4940C>A |
p.S1647Y |
Missense |
1/4 |
- |
1 |
6-46660807-C-G |
c.4942C>G |
p.Q1648E |
Missense |
1/4 |
- |
1 |
6-46660808-CAA-C |
c.4943_4944del |
p.Q1648Rfs*4 |
Frameshift |
1/4 |
- |
1 |
6-46660810-G-C |
c.4945G>C |
p.E1649Q |
Missense |
1/4 |
- |
2 |
6-46660812-G-A |
c.4947G>A |
p.E1649= |
Synonymous |
1/4 |
- |
1 |
6-46660812-G-C |
c.4947G>C |
p.E1649D |
Missense |
1/4 |
- |
1 |
6-46660812-G-T |
c.4947G>T |
p.E1649D |
Missense |
1/4 |
- |
1 |
6-46660819-G-C |
c.4954G>C |
p.D1652H |
Missense |
1/4 |
- |
2 |
6-46660823-A-G |
c.4958A>G |
p.Y1653C |
Missense |
1/4 |
- |
2 |
6-46660829-A-G |
c.4964A>G |
p.Y1655C |
Missense |
1/4 |
- |
1 |
6-46660831-G-A |
c.4966G>A |
p.E1656K |
Missense |
1/4 |
- |
1 |
6-46660831-G-T |
c.4966G>T |
p.E1656* |
Nonsense |
1/4 |
- |
1 |
6-46660833-A-G |
c.4968A>G |
p.E1656= |
Synonymous |
1/4 |
- |
1 |
6-46660838-TA-T |
c.4975del |
p.T1659Qfs*7 |
Frameshift |
1/4 |
- |
2 |
6-46660840-A-G |
c.4975A>G |
p.T1659A |
Missense |
1/4 |
- |
1 |
6-46660842-A-C |
c.4977A>C |
p.T1659= |
Synonymous |
1/4 |
- |
1 |
6-46660842-A-G |
c.4977A>G |
p.T1659= |
Synonymous |
1/4 |
- |
1 |
6-46660842-A-T |
c.4977A>T |
p.T1659= |
Synonymous |
1/4 |
- |
1 |
6-46660846-G-A |
c.4981G>A |
p.D1661N |
Missense |
1/4 |
- |
1 |
6-46660846-G-T |
c.4981G>T |
p.D1661Y |
Missense |
1/4 |
- |
2 |
6-46660847-A-G |
c.4982A>G |
p.D1661G |
Missense |
1/4 |
- |
1 |
6-46660850-T-A |
c.4985T>A |
p.V1662E |
Missense |
1/4 |
- |
1 |
6-46660851-G-A |
c.4986G>A |
p.V1662= |
Synonymous |
1/4 |
- |
1 |
6-46660851-G-C |
c.4986G>C |
p.V1662= |
Synonymous |
1/4 |
- |
1 |
6-46660851-G-T |
c.4986G>T |
p.V1662= |
Synonymous |
1/4 |
- |
1 |
6-46660852-T-C |
c.4987T>C |
p.L1663= |
Synonymous |
1/4 |
- |
1 |
6-46660854-G-A |
c.4989G>A |
p.L1663= |
Synonymous |
1/4 |
- |
1 |
6-46660859-T-C |
c.4994T>C |
p.I1665T |
Missense |
1/4 |
- |
1 |
6-46660866-A-C |
c.5001A>C |
p.I1667= |
Synonymous |
1/4 |
- |
2 |
6-46660866-A-T |
c.5001A>T |
p.I1667= |
Synonymous |
1/4 |
- |
2 |
6-46660867-C-T |
c.5002C>T |
p.L1668= |
Synonymous |
1/4 |
- |
1 |
6-46660877-G-A |
c.5012G>A |
p.R1671K |
Missense |
1/4 |
- |
2 |
6-46660877-G-T |
c.5012G>T |
p.R1671I |
Missense |
1/4 |
- |
1 |
6-46660877-GA-G |
c.5014del |
p.R1672Gfs*8 |
Frameshift |
1/4 |
- |
1 |
6-46660886-T-C |
c.5021T>C |
p.V1674A |
Missense |
1/4 |
- |
1 |
6-46660891-G-A |
c.5026G>A |
p.D1676N |
Missense |
1/4 |
- |
5 |
6-46660892-A-G |
c.5027A>G |
p.D1676G |
Missense |
1/4 |
- |
1 |
6-46660896-C-A |
c.5031C>A |
p.I1677= |
Synonymous |
1/4 |
- |
1 |
6-46660896-C-T |
c.5031C>T |
p.I1677= |
Synonymous |
1/4 |
- |
1 |
6-46660897-C-T |
c.5032C>T |
p.P1678S |
Missense |
1/4 |
- |
2 |
6-46660898-C-G |
c.5033C>G |
p.P1678R |
Missense |
1/4 |
- |
1 |
6-46660898-C-T |
c.5033C>T |
p.P1678L |
Missense |
1/4 |
- |
4 |
6-46660908-T-A |
c.5043T>A |
p.I1681= |
Synonymous |
1/4 |
- |
1 |
6-46660908-T-G |
c.5043T>G |
p.I1681M |
Missense |
1/4 |
- |
1 |
6-46660912-G-GTT |
c.5047_5048insTT |
p.D1683Vfs*3 |
Frameshift |
1/4 |
- |
1 |
6-46660917-G-A |
c.5052G>A |
p.L1684= |
Synonymous |
1/4 |
- |
1 |
6-46660917-G-C |
c.5052G>C |
p.L1684F |
Missense |
1/4 |
- |
2 |
6-46660917-G-T |
c.5052G>T |
p.L1684F |
Missense |
1/4 |
- |
1 |
6-46660944-G-A |
c.5079G>A |
p.E1693= |
Synonymous |
1/4 |
- |
2 |
6-46660944-G-C |
c.5079G>C |
p.E1693D |
Missense |
1/4 |
- |
1 |
6-46660944-G-T |
c.5079G>T |
p.E1693D |
Missense |
1/4 |
- |
1 |
6-46660954-A-G |
c.5089A>G |
p.K1697E |
Missense |
1/4 |
- |
1 |
6-46660961-C-A |
c.5096C>A |
p.S1699Y |
Missense |
1/4 |
- |
1 |
6-46660961-C-CT |
c.5097dup |
p.K1700* |
Nonsense |
1/4 |
- |
1 |
6-46660970-G-A |
c.5105G>A |
p.G1702D |
Missense |
1/4 |
- |
1 |
6-46660982-C-T |
c.5117C>T |
p.A1706V |
Missense |
1/4 |
- |
3 |
6-46660988-C-G |
c.5123C>G |
p.P1708R |
Missense |
1/4 |
- |
1 |
6-46660993-G-C |
c.5128G>C |
p.E1710Q |
Missense |
1/4 |
- |
2 |
6-46661010-G-C |
c.5145G>C |
p.E1715D |
Missense |
1/4 |
- |
1 |
6-46661010-G-T |
c.5145G>T |
p.E1715D |
Missense |
1/4 |
- |
1 |
6-46661020-A-T |
c.5155A>T |
p.T1719S |
Missense |
1/4 |
- |
1 |
6-46661021-C-G |
c.5156C>G |
p.T1719S |
Missense |
1/4 |
- |
1 |
6-46661021-C-T |
c.5156C>T |
p.T1719I |
Missense |
1/4 |
- |
2 |
6-46661023-C-A |
c.5158C>A |
p.L1720I |
Missense |
1/4 |
- |
1 |
6-46661027-GG-AC |
c.5162_5163delinsAC |
p.G1721D |
Missense |
1/4 |
- |
1 |
6-46661028-G-A |
c.5163G>A |
p.G1721= |
Synonymous |
1/4 |
- |
1 |
6-46661028-G-C |
c.5163G>C |
p.G1721= |
Synonymous |
1/4 |
- |
1 |
6-46661028-G-T |
c.5163G>T |
p.G1721= |
Synonymous |
1/4 |
- |
1 |
6-46661055-G-C |
c.5190G>C |
p.K1730N |
Missense |
1/4 |
- |
1 |
6-46661055-G-T |
c.5190G>T |
p.K1730N |
Missense |
1/4 |
- |
1 |
6-46661057-A-G |
c.5192A>G |
p.K1731R |
Missense |
1/4 |
- |
1 |
6-46661058-A-C |
c.5193A>C |
p.K1731N |
Missense |
1/4 |
- |
1 |
6-46661058-A-T |
c.5193A>T |
p.K1731N |
Missense |
1/4 |
- |
1 |
6-46661059-T-G |
c.5194T>G |
p.L1732V |
Missense |
1/4 |
- |
1 |
6-46661059-TT-CA |
c.5194_5195delinsCA |
p.L1732Q |
Missense |
1/4 |
- |
1 |
6-46661072-C-T |
c.5207C>T |
p.A1736V |
Missense |
1/4 |
- |
1 |
6-46661074-G-A |
c.5209G>A |
p.V1737I |
Missense |
1/4 |
- |
1 |
6-46661076-A-C |
c.5211A>C |
p.V1737= |
Synonymous |
1/4 |
- |
1 |
6-46661076-A-G |
c.5211A>G |
p.V1737= |
Synonymous |
1/4 |
- |
3 |
6-46661076-A-T |
c.5211A>T |
p.V1737= |
Synonymous |
1/4 |
- |
1 |
6-46661077-C-T |
c.5212C>T |
p.Q1738* |
Nonsense |
1/4 |
- |
1 |
6-46661109-T-G |
c.5244T>G |
p.D1748E |
Missense |
1/4 |
- |
1 |
6-46661117-C-CCAGTTTCTTGACTCAATGTACTCTCAAACTTGAATTGTTTTAAATTTCTCTCTCCTCCTCCTCCTCCTTT |
c.5252_5253insCAGTTTCTTGACTCAATGTACTCTCAAACTTGAATTGTTTTAAATTTCTCTCTCCTCCTCCTCCTCCTTT |
p.E1752Sfs*14 |
Frameshift |
1/4 |
- |
1 |
6-46661125-A-C |
c.5260A>C |
p.T1754P |
Missense |
1/4 |
- |
1 |
6-46661129-A-G |
c.5264A>G |
p.E1755G |
Missense |
1/4 |
- |
1 |
6-46661135-A-T |
c.5270A>T |
p.D1757V |
Missense |
1/4 |
- |
4 |
6-46661141-A-G |
c.5276A>G |
p.N1759S |
Missense |
1/4 |
- |
1 |
6-46661143-A-T |
c.5278A>T |
p.I1760F |
Missense |
1/4 |
- |
3 |
6-46661150-G-A |
c.5285G>A |
p.G1762E |
Missense |
1/4 |
- |
1 |
6-46661150-G-C |
c.5285G>C |
p.G1762A |
Missense |
1/4 |
- |
1 |
6-46661152-A-G |
c.5287A>G |
p.T1763A |
Missense |
1/4 |
- |
1 |
6-46661158-C-A |
c.5293C>A |
p.P1765T |
Missense |
1/4 |
- |
1 |
6-46661158-C-T |
c.5293C>T |
p.P1765S |
Missense |
1/4 |
- |
2 |
6-46661169-C-T |
c.5304C>T |
p.F1768= |
Synonymous |
1/4 |
- |
1 |
6-46661170-C-T |
c.5305C>T |
p.R1769C |
Missense |
1/4 |
- |
8 |
6-46661186-A-T |
c.5321A>T |
p.D1774V |
Missense |
1/4 |
- |
1 |
6-46661200-G-A |
c.5335G>A |
p.G1779R |
Missense |
1/4 |
- |
1 |
6-46661203-T-G |
c.5338T>G |
p.F1780V |
Missense |
1/4 |
- |
1 |
6-46661206-G-A |
c.5341G>A |
p.E1781K |
Missense |
1/4 |
- |
2 |
6-46661206-G-C |
c.5341G>C |
p.E1781Q |
Missense |
1/4 |
- |
1 |
6-46661210-A-C |
c.5345A>C |
p.N1782T |
Missense |
1/4 |
- |
4 |
6-46661210-A-G |
c.5345A>G |
p.N1782S |
Missense |
1/4 |
- |
1 |
6-46661215-TG-AC |
c.5350_5351delinsAC |
p.C1784T |
Missense |
1/4 |
- |
1 |
6-46661216-G-T |
c.5351G>T |
p.C1784F |
Missense |
1/4 |
- |
1 |
6-46661221-G-C |
c.5356G>C |
p.D1786H |
Missense |
1/4 |
- |
1 |
6-46661230-G-A |
c.5365G>A |
p.D1789N |
Missense |
1/4 |
- |
3 |
6-46661233-A-G |
c.5368A>G |
p.T1790A |
Missense |
1/4 |
- |
1 |
6-46661236-G-A |
c.5371G>A |
p.E1791K |
Missense |
1/4 |
- |
1 |
6-46661251-G-A |
c.5386G>A |
p.E1796K |
Missense |
1/4 |
- |
1 |
6-46661260-TG-AC |
c.5395_5396delinsAC |
p.C1799T |
Missense |
1/4 |
- |
1 |
6-46661261-G-A |
c.5396G>A |
p.C1799Y |
Missense |
1/4 |
- |
1 |
6-46661281-G-C |
c.5416G>C |
p.E1806Q |
Missense |
1/4 |
- |
3 |
6-46661282-A-G |
c.5417A>G |
p.E1806G |
Missense |
1/4 |
- |
1 |
6-46661283-G-A |
c.5418G>A |
p.E1806= |
Synonymous |
1/4 |
- |
1 |
6-46661287-G-A |
c.5422G>A |
p.D1808N |
Missense |
1/4 |
- |
1 |
6-46661289-T-C |
c.5424T>C |
p.D1808= |
Synonymous |
1/4 |
- |
1 |
6-46661291-A-T |
c.5426A>T |
p.D1809V |
Missense |
1/4 |
- |
1 |
6-46661295-A-G |
c.5430A>G |
p.K1810= |
Synonymous |
1/4 |
- |
3 |
6-46661296-T-C |
c.5431T>C |
p.Y1811H |
Missense |
1/4 |
- |
2 |
6-46661297-A-G |
c.5432A>G |
p.Y1811C |
Missense |
1/4 |
- |
2 |
6-46661300-T-A |
c.5435T>A |
p.L1812Q |
Missense |
1/4 |
- |
1 |
6-46661309-G-T |
c.5444G>T |
p.G1815V |
Missense |
1/4 |
- |
1 |
6-46661311-T-G |
c.5446T>G |
p.F1816V |
Missense |
1/4 |
- |
1 |
6-46661312-T-C |
c.5447T>C |
p.F1816S |
Missense |
1/4 |
- |
1 |
6-46661316-C-A |
c.5451C>A |
p.N1817K |
Missense |
1/4 |
- |
1 |
6-46661316-C-G |
c.5451C>G |
p.N1817K |
Missense |
1/4 |
- |
1 |
6-46661323-C-T |
c.5458C>T |
p.L1820= |
Synonymous |
1/4 |
- |
1 |
6-46661325-A-C |
c.5460A>C |
p.L1820= |
Synonymous |
1/4 |
- |
1 |
6-46661325-A-G |
c.5460A>G |
p.L1820= |
Synonymous |
1/4 |
- |
1 |
6-46661325-A-T |
c.5460A>T |
p.L1820= |
Synonymous |
1/4 |
- |
1 |
6-46661327-C-A |
c.5462C>A |
p.P1821Q |
Missense |
1/4 |
- |
1 |
6-46661338-G-A |
c.5473G>A |
p.E1825K |
Missense |
1/4 |
- |
2 |
6-46661338-G-T |
c.5473G>T |
p.E1825* |
Nonsense |
1/4 |
- |
1 |
6-46661339-A-G |
c.5474A>G |
p.E1825G |
Missense |
1/4 |
- |
1 |
6-46661342-CAA-C |
c.5479_5480del |
p.K1827Gfs*9 |
Frameshift |
1/4 |
- |
1 |
6-46661347-G-T |
c.5482G>T |
p.E1828* |
Nonsense |
1/4 |
- |
1 |
6-46661351-T-G |
c.5486T>G |
p.I1829R |
Missense |
1/4 |
- |
2 |
6-46661351-T-TA |
c.5487dup |
p.L1830Tfs*7 |
Frameshift |
1/4 |
- |
1 |
6-46661365-T-A |
c.5500T>A |
p.S1834T |
Missense |
1/4 |
- |
1 |
6-46661370-T-A |
c.5505T>A |
p.L1835= |
Synonymous |
1/4 |
- |
1 |
6-46661370-T-C |
c.5505T>C |
p.L1835= |
Synonymous |
1/4 |
- |
1 |
6-46661370-T-G |
c.5505T>G |
p.L1835= |
Synonymous |
1/4 |
- |
1 |
6-46661376-G-A |
c.5511G>A |
p.V1837= |
Synonymous |
1/4 |
- |
1 |
6-46661378-C-T |
c.5513C>T |
p.P1838L |
Missense |
1/4 |
- |
1 |
6-46661379-G-A |
c.5514G>A |
p.P1838= |
Synonymous |
1/4 |
- |
3 |
6-46661379-G-C |
c.5514G>C |
p.P1838= |
Synonymous |
1/4 |
- |
2 |
6-46661379-G-T |
c.5514G>T |
p.P1838= |
Synonymous |
1/4 |
- |
3 |
6-46661383-T-G |
c.5518T>G |
p.S1840A |
Missense |
1/4 |
- |
2 |
6-46661386-C-A |
c.5521C>A |
p.P1841T |
Missense |
1/4 |
- |
1 |
6-46661387-C-T |
c.5522C>T |
p.P1841L |
Missense |
1/4 |
- |
5 |
6-46661389-G-C |
c.5524G>C |
p.D1842H |
Missense |
1/4 |
- |
1 |
6-46661391-T-A |
c.5526T>A |
p.D1842E |
Missense |
1/4 |
- |
2 |
6-46661391-T-G |
c.5526T>G |
p.D1842E |
Missense |
1/4 |
- |
1 |
6-46661395-G-T |
c.5530G>T |
p.E1844* |
Nonsense |
1/4 |
- |
2 |
6-46661399-C-A |
c.5534C>A |
p.S1845* |
Nonsense |
1/4 |
- |
1 |
6-46661399-C-G |
c.5534C>G |
p.S1845* |
Nonsense |
1/4 |
- |
2 |
6-46661407-T-C |
c.5542T>C |
p.F1848L |
Missense |
1/4 |
- |
1 |
6-46661409-C-A |
c.5544C>A |
p.F1848L |
Missense |
1/4 |
- |
1 |
6-46661409-C-G |
c.5544C>G |
p.F1848L |
Missense |
1/4 |
- |
1 |
6-46661409-C-T |
c.5544C>T |
p.F1848= |
Synonymous |
1/4 |
- |
2 |
6-46661417-T-G |
c.5552T>G |
p.L1851R |
Missense |
1/4 |
- |
1 |
6-46661430-AG-A |
c.5565del |
p.E1855Dfs*15 |
Frameshift |
1/4 |
- |
1 |
6-46661433-A-G |
c.5568A>G |
p.L1856= |
Synonymous |
1/4 |
- |
1 |
6-46661434-C-T |
c.5569C>T |
p.Q1857* |
Nonsense |
1/4 |
- |
2 |
6-46661436-G-A |
c.5571G>A |
p.Q1857= |
Synonymous |
1/4 |
- |
1 |
6-46661436-G-C |
c.5571G>C |
p.Q1857H |
Missense |
1/4 |
- |
1 |
6-46661436-G-T |
c.5571G>T |
p.Q1857H |
Missense |
1/4 |
- |
1 |
6-46661443-C-T |
c.5578C>T |
p.L1860= |
Synonymous |
1/4 |
- |
1 |
6-46661446-G-A |
c.5581G>A |
p.V1861M |
Missense |
1/4 |
- |
1 |
6-46661447-T-C |
c.5582T>C |
p.V1861A |
Missense |
1/4 |
- |
1 |
6-46661462-A-T |
c.5597A>T |
p.K1866I |
Missense |
1/4 |
- |
6 |
6-46661465-G-A |
c.5600G>A |
p.G1867E |
Missense |
1/4 |
- |
2 |
6-46661466-G-GT |
c.5601_5602insT |
p.E1868* |
Nonsense |
1/4 |
- |
1 |
6-46661467-G-T |
c.5602G>T |
p.E1868* |
Nonsense |
1/4 |
- |
1 |
6-46661468-A-T |
c.5603A>T |
p.E1868V |
Missense |
1/4 |
- |
1 |
6-46661470-C-G |
c.5605C>G |
p.L1869V |
Missense |
1/4 |
- |
2 |
6-46661476-C-T |
c.5611C>T |
p.P1871S |
Missense |
1/4 |
- |
1 |
6-46661477-C-T |
c.5612C>T |
p.P1871L |
Missense |
1/4 |
- |
2 |
6-46661479-G-A |
c.5614G>A |
p.V1872M |
Missense |
1/4 |
- |
2 |
6-46661479-G-C |
c.5614G>C |
p.V1872L |
Missense |
1/4 |
- |
3 |
6-46661479-G-T |
c.5614G>T |
p.V1872L |
Missense |
1/4 |
- |
8 |
6-46661486-C-T |
c.5621C>T |
p.P1874L |
Missense |
1/4 |
- |
1 |
6-46661488-A-G |
c.5623A>G |
p.N1875D |
Missense |
1/4 |
- |
5 |
6-46661487-GA-G |
c.5624del |
p.N1875Mfs*33 |
Frameshift |
1/4 |
- |
1 |
6-46661499-C-A |
c.5634C>A |
p.L1878= |
Synonymous |
1/4 |
- |
1 |
6-46661499-C-G |
c.5634C>G |
p.L1878= |
Synonymous |
1/4 |
- |
1 |
6-46661499-C-T |
c.5634C>T |
p.L1878= |
Synonymous |
1/4 |
- |
1 |
6-46661501-C-T |
c.5636C>T |
p.S1879F |
Missense |
1/4 |
- |
1 |
6-46661506-G-A |
c.5641G>A |
p.E1881K |
Missense |
1/4 |
- |
1 |
6-46661509-T-A |
c.5644T>A |
p.C1882S |
Missense |
1/4 |
- |
1 |
6-46661513-T-C |
c.5648T>C |
p.V1883A |
Missense |
1/4 |
- |
1 |
6-46661520-A-T |
c.5655A>T |
p.K1885N |
Missense |
1/4 |
- |
1 |
6-46661523-C-T |
c.5658C>T |
p.G1886= |
Synonymous |
1/4 |
- |
1 |
6-46661524-G-A |
c.5659G>A |
p.A1887T |
Missense |
1/4 |
- |
1 |
6-46661527-A-G |
c.5662A>G |
p.M1888V |
Missense |
1/4 |
- |
1 |
6-46661532-G-C |
c.5667G>C |
p.E1889D |
Missense |
1/4 |
- |
1 |
6-46661532-G-T |
c.5667G>T |
p.E1889D |
Missense |
1/4 |
- |
1 |
6-46661539-A-G |
c.5674A>G |
p.T1892A |
Missense |
1/4 |
- |
1 |
6-46661545-C-T |
c.5680C>T |
p.Q1894* |
Nonsense |
1/4 |
- |
1 |
6-46661552-C-T |
c.5687C>T |
p.P1896L |
Missense |
1/4 |
- |
1 |
6-46661554-C-T |
c.5689C>T |
p.L1897F |
Missense |
1/4 |
- |
1 |
6-46661560-TG-AC |
c.5695_5696delinsAC |
p.C1899T |
Missense |
1/4 |
- |
1 |
6-46661561-TG-T |
c.5696del |
p.C1899Lfs*9 |
Frameshift |
1/4 |
- |
1 |
6-46661562-T-TCACAGCTGAGAG |
c.5697_5698insCACAGCTGAGAG |
p.C1899_E1900insHS* |
Frameshift |
1/4 |
- |
1 |
6-46661562-T-TCATAGCTAA |
c.5697_5698insCATAGCTAA |
p.C1899_E1900insHS* |
InFrameInsertion |
1/4 |
- |
1 |
6-46661563-G-C |
c.5698G>C |
p.E1900Q |
Missense |
1/4 |
- |
2 |
6-46661564-A-AC |
c.5699_5700insC |
p.E1900Dfs*3 |
Frameshift |
1/4 |
- |
2 |
6-46661571-G-C |
c.5706G>C |
p.E1902D |
Missense |
1/4 |
- |
1 |
6-46661571-G-T |
c.5706G>T |
p.E1902D |
Missense |
1/4 |
- |
1 |
6-46661572-A-G |
c.5707A>G |
p.K1903E |
Missense |
1/4 |
- |
1 |
6-46661572-A-T |
c.5707A>T |
p.K1903* |
Nonsense |
1/4 |
- |
1 |
6-46661581-G-C |
c.5716G>C |
p.E1906Q |
Missense |
1/4 |
- |
1 |
6-46661582-A-T |
c.5717A>T |
p.E1906V |
Missense |
1/4 |
- |
1 |
6-46661587-GA-G |
c.5724del |
p.E1908Dfs*9 |
Frameshift |
1/4 |
- |
1 |
6-46661594-C-A |
c.5729C>A |
p.P1910H |
Missense |
1/4 |
- |
1 |
6-46661599-G-A |
c.5734G>A |
p.A1912T |
Missense |
1/4 |
- |
2 |
6-46661602-C-A |
c.5737C>A |
p.Q1913K |
Missense |
1/4 |
- |
1 |
6-46661602-C-T |
c.5737C>T |
p.Q1913* |
Nonsense |
1/4 |
- |
1 |
6-46661614-G-A |
c.5749G>A |
p.D1917N |
Missense |
1/4 |
- |
1 |
6-46661620-A-G |
c.5755A>G |
p.K1919E |
Missense |
1/4 |
- |
1 |
6-46661622-G-C |
c.5757G>C |
p.K1919N |
Missense |
1/4 |
- |
1 |
6-46661625-G-A |
c.5760G>A |
p.M1920I |
Missense |
1/4 |
- |
3 |
6-46661625-G-C |
c.5760G>C |
p.M1920I |
Missense |
1/4 |
- |
1 |
6-46661625-G-T |
c.5760G>T |
p.M1920I |
Missense |
1/4 |
- |
1 |
6-46661636-C-A |
c.5771C>A |
p.S1924Y |
Missense |
1/4 |
- |
2 |
6-46661642-G-A |
c.5777G>A |
p.G1926E |
Missense |
1/4 |
- |
1 |
6-46661645-T-C |
c.5780T>C |
p.V1927A |
Missense |
1/4 |
- |
1 |
6-46661651-A-G |
c.5786A>G |
p.Q1929R |
Missense |
1/4 |
- |
2 |
6-46661661-G-T |
c.5796G>T |
p.Q1932H |
Missense |
1/4 |
- |
1 |
6-46661667-C-T |
c.5802C>T |
p.S1934= |
Synonymous |
1/4 |
- |
1 |
6-46661672-G-A |
c.5807G>A |
p.C1936Y |
Missense |
1/4 |
- |
1 |
6-46661673-T-C |
c.5808T>C |
p.C1936= |
Synonymous |
1/4 |
- |
1 |
6-46661677-G-A |
c.5812G>A |
p.E1938K |
Missense |
1/4 |
- |
5 |
6-46661686-A-T |
c.5821A>T |
p.R1941* |
Nonsense |
1/4 |
- |
2 |
6-46661704-G-A |
c.5839G>A |
p.E1947K |
Missense |
1/4 |
- |
1 |
6-46661704-G-C |
c.5839G>C |
p.E1947Q |
Missense |
1/4 |
- |
2 |
6-46661708-C-A |
c.5843C>A |
p.S1948Y |
Missense |
1/4 |
- |
2 |
6-46661708-CT-C |
c.5847del |
p.F1949Lfs*24 |
Frameshift |
1/4 |
- |
1 |
6-46661716-G-T |
c.5851G>T |
p.D1951Y |
Missense |
1/4 |
- |
1 |
6-46661719-C-G |
c.5854C>G |
p.Q1952E |
Missense |
1/4 |
- |
1 |
6-46661722-C-T |
c.5857C>T |
p.R1953C |
Missense |
1/4 |
- |
3 |
6-46661723-G-A |
c.5858G>A |
p.R1953H |
Missense |
1/4 |
- |
2 |
6-46661730-G-A |
c.5865G>A |
p.M1955I |
Missense |
1/4 |
- |
2 |
6-46661730-G-C |
c.5865G>C |
p.M1955I |
Missense |
1/4 |
- |
1 |
6-46661730-G-T |
c.5865G>T |
p.M1955I |
Missense |
1/4 |
- |
1 |
6-46661732-C-G |
c.5867C>G |
p.S1956* |
Nonsense |
1/4 |
- |
1 |
6-46661737-C-T |
c.5872C>T |
p.H1958Y |
Missense |
1/4 |
- |
1 |
6-46661741-T-C |
c.5876T>C |
p.L1959P |
Missense |
1/4 |
- |
1 |
6-46661744-A-T |
c.5879A>T |
p.H1960L |
Missense |
1/4 |
- |
3 |
6-46661745-T-C |
c.5880T>C |
p.H1960= |
Synonymous |
1/4 |
- |
1 |
6-46661747-G-A |
c.5882G>A |
p.G1961E |
Missense |
1/4 |
- |
1 |
6-46661752-G-A |
c.5887G>A |
p.D1963N |
Missense |
1/4 |
- |
1 |
6-46661758-G-A |
c.5893G>A |
p.D1965N |
Missense |
1/4 |
- |
1 |
6-46661768-C-A |
c.5903C>A |
p.T1968K |
Missense |
1/4 |
- |
1 |
6-46661768-C-T |
c.5903C>T |
p.T1968I |
Missense |
1/4 |
- |
1 |
6-46661770-C-T |
c.5905C>T |
p.Q1969* |
Nonsense |
1/4 |
- |
1 |
6-46661771-A-G |
c.5906A>G |
p.Q1969R |
Missense |
1/4 |
- |
1 |
6-46661788-T-G |
c.5923T>G |
p.C1975G |
Missense |
1/4 |
- |
1 |
6-46661793-A-AT |
c.5928_5929insT |
p.E1977* |
Nonsense |
1/4 |
- |
1 |
6-46661797-G-A |
c.5932G>A |
p.E1978K |
Missense |
1/4 |
- |
1 |
6-46661806-G-C |
c.5941G>C |
p.E1981Q |
Missense |
1/4 |
- |
1 |
6-46661814-A-T |
c.5949A>T |
p.K1983N |
Missense |
1/4 |
- |
1 |
6-46661826-C-A |
c.5961C>A |
p.A1987= |
Synonymous |
1/4 |
- |
1 |
6-46661826-C-G |
c.5961C>G |
p.A1987= |
Synonymous |
1/4 |
- |
1 |
6-46661826-C-T |
c.5961C>T |
p.A1987= |
Synonymous |
1/4 |
- |
1 |
6-46661831-C-T |
c.5966C>T |
p.S1989L |
Missense |
1/4 |
- |
6 |
6-46661832-G-A |
c.5967G>A |
p.S1989= |
Synonymous |
1/4 |
- |
1 |
6-46661840-T-C |
c.5975T>C |
p.M1992T |
Missense |
1/4 |
- |
3 |
6-46661842-C-T |
c.5977C>T |
p.P1993S |
Missense |
1/4 |
- |
1 |
6-46661848-T-C |
c.5983T>C |
p.F1995L |
Missense |
1/4 |
- |
1 |
6-46661850-C-G |
c.5985C>G |
p.F1995L |
Missense |
1/4 |
- |
1 |
6-46661850-C-A |
c.5985C>A |
p.F1995L |
Missense |
1/4 |
- |
2 |
6-46661850-C-T |
c.5985C>T |
p.F1995= |
Synonymous |
1/4 |
- |
2 |
6-46661854-G-A |
c.5989G>A |
p.E1997K |
Missense |
1/4 |
- |
1 |
6-46661854-G-T |
c.5989G>T |
p.E1997* |
Nonsense |
1/4 |
- |
4 |
6-46661876-G-A |
c.6011G>A |
p.S2004N |
Missense |
1/4 |
- |
1 |
6-46661899-G-A |
c.6034G>A |
p.D2012N |
Missense |
1/4 |
- |
2 |
6-46661903-A-C |
c.6038A>C |
p.H2013P |
Missense |
1/4 |
- |
1 |
6-46661910-A-C |
c.6045A>C |
p.S2015= |
Synonymous |
1/4 |
- |
2 |
6-46661910-A-G |
c.6045A>G |
p.S2015= |
Synonymous |
1/4 |
- |
2 |
6-46661910-A-T |
c.6045A>T |
p.S2015= |
Synonymous |
1/4 |
- |
2 |
6-46661912-G-A |
c.6046+1G>A |
- |
IntronicSNV |
- |
1/3 |
1 |
6-46661934-TTAC-T |
c.6046+25_6046+27del |
- |
IntronicDeletion |
- |
1/3 |
1 |
6-46661936-TAC-T |
c.6046+25_6046+26del |
- |
IntronicDeletion |
- |
1/3 |
2 |
6-46661936-TA-T |
c.6046+25del |
- |
IntronicDeletion |
- |
1/3 |
1 |
6-46661938-T-TTTTTTTTTCTTTTTTC |
c.6046+35_6046+36insCTTTTTTCTTTTTTTT |
- |
IntronicInsertion |
- |
1/3 |
1 |
6-46661937-CTTT-C |
c.6046+44_6046+46del |
- |
IntronicDeletion |
- |
1/3 |
1 |
6-46661937-CTT-C |
c.6046+45_6046+46del |
- |
IntronicDeletion |
- |
1/3 |
2 |
6-46661937-CT-C |
c.6046+46del |
- |
IntronicDeletion |
- |
1/3 |
3 |
6-46661963-A-G |
c.6046+52A>G |
- |
IntronicSNV |
- |
1/3 |
1 |
6-46663455-G-A |
c.6047-103G>A |
- |
IntronicSNV |
- |
1/3 |
1 |
6-46663563-C-T |
c.6052C>T |
p.L2018= |
Synonymous |
2/4 |
- |
1 |
6-46663565-A-C |
c.6054A>C |
p.L2018= |
Synonymous |
2/4 |
- |
1 |
6-46663565-A-G |
c.6054A>G |
p.L2018= |
Synonymous |
2/4 |
- |
1 |
6-46663565-A-T |
c.6054A>T |
p.L2018= |
Synonymous |
2/4 |
- |
1 |
6-46663566-C-T |
c.6055C>T |
p.Q2019* |
Nonsense |
2/4 |
- |
1 |
6-46663568-G-C |
c.6057G>C |
p.Q2019H |
Missense |
2/4 |
- |
1 |
6-46663583-G-A |
c.6072G>A |
p.L2024= |
Synonymous |
2/4 |
- |
2 |
6-46663593-A-G |
c.6082A>G |
p.T2028A |
Missense |
2/4 |
- |
1 |
6-46663600-G-A |
c.6089G>A |
p.G2030E |
Missense |
2/4 |
- |
1 |
6-46663602-T-G |
c.6091T>G |
p.S2031A |
Missense |
2/4 |
- |
1 |
6-46663621-C-A |
c.6110C>A |
p.S2037* |
Nonsense |
2/4 |
- |
1 |
6-46663621-C-G |
c.6110C>G |
p.S2037* |
Nonsense |
2/4 |
- |
1 |
6-46663629-A-C |
c.6118A>C |
p.R2040= |
Synonymous |
2/4 |
- |
1 |
6-46663643-T-A |
c.6132T>A |
p.S2044= |
Synonymous |
2/4 |
- |
1 |
6-46663643-T-C |
c.6132T>C |
p.S2044= |
Synonymous |
2/4 |
- |
1 |
6-46663643-T-G |
c.6132T>G |
p.S2044= |
Synonymous |
2/4 |
- |
3 |
6-46663658-A-C |
c.6147A>C |
p.L2049F |
Missense |
2/4 |
- |
1 |
6-46663658-A-T |
c.6147A>T |
p.L2049F |
Missense |
2/4 |
- |
1 |
6-46663668-G-C |
c.6157G>C |
p.E2053Q |
Missense |
2/4 |
- |
1 |
6-46663671-G-A |
c.6160G>A |
p.E2054K |
Missense |
2/4 |
- |
3 |
6-46663671-G-T |
c.6160G>T |
p.E2054* |
Nonsense |
2/4 |
- |
3 |
6-46663673-A-C |
c.6162A>C |
p.E2054D |
Missense |
2/4 |
- |
1 |
6-46663675-G-A |
c.6164G>A |
p.G2055E |
Missense |
2/4 |
- |
1 |
6-46663677-A-G |
c.6166A>G |
p.T2056A |
Missense |
2/4 |
- |
1 |
6-46665736-T-C |
c.6173T>C |
p.V2058A |
Missense |
3/4 |
- |
1 |
6-46665740-G-C |
c.6177G>C |
p.L2059F |
Missense |
3/4 |
- |
4 |
6-46665740-G-T |
c.6177G>T |
p.L2059F |
Missense |
3/4 |
- |
2 |
6-46665743-C-T |
c.6180C>T |
p.N2060= |
Synonymous |
3/4 |
- |
1 |
6-46665746-T-A |
c.6183T>A |
p.L2061= |
Synonymous |
3/4 |
- |
1 |
6-46665756-A-G |
c.6193A>G |
p.M2065V |
Missense |
3/4 |
- |
1 |
6-46665773-C-T |
c.6210C>T |
p.N2070= |
Synonymous |
3/4 |
- |
3 |
6-46665774-C-T |
c.6211C>T |
p.P2071S |
Missense |
3/4 |
- |
1 |
6-46665775-C-A |
c.6212C>A |
p.P2071H |
Missense |
3/4 |
- |
2 |
6-46665782-T-C |
c.6219T>C |
p.N2073= |
Synonymous |
3/4 |
- |
1 |
6-46665786-T-A |
c.6223T>A |
p.W2075R |
Missense |
3/4 |
- |
1 |
6-46665788-G-A |
c.6225G>A |
p.W2075* |
Nonsense |
3/4 |
- |
1 |
6-46665790-A-G |
c.6227A>G |
p.N2076S |
Missense |
3/4 |
- |
4 |
6-46665797-A-C |
c.6234A>C |
p.I2078= |
Synonymous |
3/4 |
- |
1 |
6-46665797-A-T |
c.6234A>T |
p.I2078= |
Synonymous |
3/4 |
- |
2 |
6-46665802-A-T |
c.6239A>T |
p.K2080I |
Missense |
3/4 |
- |
1 |
6-46665808-A-G |
c.6245A>G |
p.D2082G |
Missense |
3/4 |
- |
1 |
6-46665817-C-T |
c.6254C>T |
p.P2085L |
Missense |
3/4 |
- |
1 |
6-46665821-T-A |
c.6258T>A |
p.P2086= |
Synonymous |
3/4 |
- |
1 |
6-46665822-G-A |
c.6259G>A |
p.E2087K |
Missense |
3/4 |
- |
2 |
6-46665837-A-G |
c.6261+13A>G |
- |
IntronicSNV |
- |
3/3 |
1 |
6-46667343-C-A |
c.6261+1519C>A |
- |
IntronicSNV |
- |
3/3 |
3 |
6-46667343-C-T |
c.6261+1519C>T |
- |
IntronicSNV |
- |
3/3 |
3 |
6-46668656-T-G |
c.6262-939T>G |
- |
IntronicSNV |
- |
3/3 |
1 |
6-46668659-G-A |
c.6262-936G>A |
- |
IntronicSNV |
- |
3/3 |
1 |
6-46669600-G-C |
c.6267G>C |
p.R2089S |
Missense |
4/4 |
- |
1 |
6-46669607-G-A |
c.6274G>A |
p.E2092K |
Missense |
4/4 |
- |
1 |
6-46669608-A-G |
c.6275A>G |
p.E2092G |
Missense |
4/4 |
- |
1 |
6-46669609-G-A |
c.6276G>A |
p.E2092= |
Synonymous |
4/4 |
- |
1 |
6-46669614-ATG-A |
c.6281_6282del |
p.M2094Rfs*8 |
Frameshift |
4/4 |
- |
1 |
6-46669616-G-A |
c.6283G>A |
p.E2095K |
Missense |
4/4 |
- |
1 |
6-46669616-G-T |
c.6283G>T |
p.E2095* |
Nonsense |
4/4 |
- |
2 |
6-46669618-G-C |
c.6285G>C |
p.E2095D |
Missense |
4/4 |
- |
1 |
6-46669821-T-C |
c.*197T>C |
- |
3-UTRSNV |
4/4 |
- |
1 |
6-46669936-C-A |
c.*312C>A |
- |
3-UTRSNV |
4/4 |
- |
4 |