10-72972743-A-T |
c.1A>T |
p.M1? |
Missense |
1/17 |
- |
1 |
10-72972751-C-A |
c.9C>A |
p.A3= |
Synonymous |
1/17 |
- |
1 |
10-72972751-C-G |
c.9C>G |
p.A3= |
Synonymous |
1/17 |
- |
1 |
10-72972751-C-T |
c.9C>T |
p.A3= |
Synonymous |
1/17 |
- |
1 |
10-72972761-G-T |
c.19G>T |
p.A7S |
Missense |
1/17 |
- |
1 |
10-72972770-GC-AT |
c.28_29delinsAT |
p.A10M |
Missense |
1/17 |
- |
1 |
10-72972771-C-A |
c.29C>A |
p.A10E |
Missense |
1/17 |
- |
1 |
10-72972772-G-A |
c.30G>A |
p.A10= |
Synonymous |
1/17 |
- |
1 |
10-72972772-G-C |
c.30G>C |
p.A10= |
Synonymous |
1/17 |
- |
1 |
10-72972772-G-T |
c.30G>T |
p.A10= |
Synonymous |
1/17 |
- |
1 |
10-72972782-G-A |
c.40G>A |
p.A14T |
Missense |
1/17 |
- |
1 |
10-72972782-G-C |
c.40G>C |
p.A14P |
Missense |
1/17 |
- |
1 |
10-72972782-GC-CA |
c.40_41delinsCA |
p.A14Q |
Missense |
1/17 |
- |
1 |
10-72972782-G-T |
c.40G>T |
p.A14S |
Missense |
1/17 |
- |
1 |
10-72972805-G-A |
c.63G>A |
p.P21= |
Synonymous |
1/17 |
- |
1 |
10-72972807-G-A |
c.65G>A |
p.R22K |
Missense |
1/17 |
- |
1 |
10-72972809-C-T |
c.67C>T |
p.L23= |
Synonymous |
1/17 |
- |
1 |
10-72972812-A-C |
c.70A>C |
p.S24R |
Missense |
1/17 |
- |
1 |
10-72972814-C-A |
c.72C>A |
p.S24R |
Missense |
1/17 |
- |
1 |
10-72972814-C-G |
c.72C>G |
p.S24R |
Missense |
1/17 |
- |
1 |
10-72972818-GCA-CAT |
c.76_78delinsCAT |
p.A26H |
Missense |
1/17 |
- |
1 |
10-72972818-GC-AT |
c.76_77delinsAT |
p.A26I |
Missense |
1/17 |
- |
1 |
10-72972818-GCA-TAT |
c.76_78delinsTAT |
p.A26Y |
Missense |
1/17 |
- |
1 |
10-72972818-GCA-TGT |
c.76_78delinsTGT |
p.A26C |
Missense |
1/17 |
- |
1 |
10-72972818-GC-TA |
c.76_77delinsTA |
p.A26* |
Nonsense |
1/17 |
- |
1 |
10-72972819-C-G |
c.77C>G |
p.A26G |
Missense |
1/17 |
- |
1 |
10-72974684-C-T |
c.79+1863C>T |
- |
IntronicSNV |
- |
1/16 |
1 |
10-72974710-C-T |
c.79+1889C>T |
- |
IntronicSNV |
- |
1/16 |
1 |
10-72982900-C-T |
c.79+10079C>T |
- |
IntronicSNV |
- |
1/16 |
1 |
10-72982985-G-A |
c.79+10164G>A |
- |
IntronicSNV |
- |
1/16 |
4 |
10-72982985-G-T |
c.79+10164G>T |
- |
IntronicSNV |
- |
1/16 |
4 |
10-72986402-A-C |
c.79+13581A>C |
- |
IntronicSNV |
- |
1/16 |
1 |
10-72990813-G-T |
c.79+17992G>T |
- |
IntronicSNV |
- |
1/16 |
1 |
10-72994515-C-T |
c.79+21694C>T |
- |
IntronicSNV |
- |
1/16 |
1 |
10-72995627-G-A |
c.79+22806G>A |
- |
IntronicSNV |
- |
1/16 |
1 |
10-72998221-G-A |
c.79+25400G>A |
- |
IntronicSNV |
- |
1/16 |
1 |
10-73000021-C-T |
c.79+27200C>T |
- |
IntronicSNV |
- |
1/16 |
1 |
10-73001344-G-A |
c.79+28523G>A |
- |
IntronicSNV |
- |
1/16 |
1 |
10-73001953-C-T |
c.79+29132C>T |
- |
IntronicSNV |
- |
1/16 |
1 |
10-73002189-C-T |
c.79+29368C>T |
- |
IntronicSNV |
- |
1/16 |
1 |
10-73008857-A-C |
c.80-30721A>C |
- |
IntronicSNV |
- |
1/16 |
2 |
10-73008857-A-T |
c.80-30721A>T |
- |
IntronicSNV |
- |
1/16 |
2 |
10-73018019-T-C |
c.80-21559T>C |
- |
IntronicSNV |
- |
1/16 |
1 |
10-73019759-G-A |
c.80-19819G>A |
- |
IntronicSNV |
- |
1/16 |
2 |
10-73019759-G-C |
c.80-19819G>C |
- |
IntronicSNV |
- |
1/16 |
2 |
10-73020768-A-G |
c.80-18810A>G |
- |
IntronicSNV |
- |
1/16 |
1 |
10-73020768-A-T |
c.80-18810A>T |
- |
IntronicSNV |
- |
1/16 |
1 |
10-73023736-A-C |
c.80-15842A>C |
- |
IntronicSNV |
- |
1/16 |
1 |
10-73036643-G-GAC |
c.80-2933_80-2932dup |
- |
IntronicInsertion |
- |
1/16 |
1 |
10-73039491-G-A |
c.80-87G>A |
- |
IntronicSNV |
- |
1/16 |
4 |
10-73039584-A-C |
c.86A>C |
p.D29A |
Missense |
2/17 |
- |
1 |
10-73039587-C-G |
c.89C>G |
p.S30C |
Missense |
2/17 |
- |
1 |
10-73039587-CT-AA |
c.89_90delinsAA |
p.S30* |
Nonsense |
2/17 |
- |
2 |
10-73039588-TG-T |
c.92del |
p.G31Afs*30 |
Frameshift |
2/17 |
- |
1 |
10-73039590-G-A |
c.92G>A |
p.G31D |
Missense |
2/17 |
- |
1 |
10-73039590-G-C |
c.92G>C |
p.G31A |
Missense |
2/17 |
- |
1 |
10-73039593-G-C |
c.95G>C |
p.S32T |
Missense |
2/17 |
- |
5 |
10-73039593-G-T |
c.95G>T |
p.S32I |
Missense |
2/17 |
- |
1 |
10-73039597-G-C |
c.99G>C |
p.E33D |
Missense |
2/17 |
- |
1 |
10-73039597-G-T |
c.99G>T |
p.E33D |
Missense |
2/17 |
- |
2 |
10-73039599-T-C |
c.101T>C |
p.V34A |
Missense |
2/17 |
- |
1 |
10-73039600-G-A |
c.102G>A |
p.V34= |
Synonymous |
2/17 |
- |
1 |
10-73039600-G-C |
c.102G>C |
p.V34= |
Synonymous |
2/17 |
- |
1 |
10-73039600-G-T |
c.102G>T |
p.V34= |
Synonymous |
2/17 |
- |
1 |
10-73039604-C-G |
c.106C>G |
p.P36A |
Missense |
2/17 |
- |
1 |
10-73039605-C-A |
c.107C>A |
p.P36H |
Missense |
2/17 |
- |
1 |
10-73039611-C-T |
c.113C>T |
p.S38F |
Missense |
2/17 |
- |
1 |
10-73039617-C-A |
c.119C>A |
p.P40Q |
Missense |
2/17 |
- |
1 |
10-73039617-C-T |
c.119C>T |
p.P40L |
Missense |
2/17 |
- |
1 |
10-73039622-GC-AA |
c.124_125delinsAA |
p.A42K |
Missense |
2/17 |
- |
1 |
10-73039622-GCG-TAT |
c.124_126delinsTAT |
p.A42Y |
Missense |
2/17 |
- |
1 |
10-73039623-C-A |
c.125C>A |
p.A42E |
Missense |
2/17 |
- |
1 |
10-73039623-C-T |
c.125C>T |
p.A42V |
Missense |
2/17 |
- |
1 |
10-73039624-G-A |
c.126G>A |
p.A42= |
Synonymous |
2/17 |
- |
2 |
10-73039624-G-C |
c.126G>C |
p.A42= |
Synonymous |
2/17 |
- |
1 |
10-73039624-G-T |
c.126G>T |
p.A42= |
Synonymous |
2/17 |
- |
1 |
10-73039629-C-G |
c.131C>G |
p.A44G |
Missense |
2/17 |
- |
2 |
10-73039629-C-T |
c.131C>T |
p.A44V |
Missense |
2/17 |
- |
1 |
10-73039635-C-T |
c.137C>T |
p.P46L |
Missense |
2/17 |
- |
1 |
10-73039636-G-A |
c.138G>A |
p.P46= |
Synonymous |
2/17 |
- |
4 |
10-73039636-G-C |
c.138G>C |
p.P46= |
Synonymous |
2/17 |
- |
1 |
10-73039636-G-T |
c.138G>T |
p.P46= |
Synonymous |
2/17 |
- |
1 |
10-73039646-T-C |
c.148T>C |
p.F50L |
Missense |
2/17 |
- |
1 |
10-73039648-C-A |
c.150C>A |
p.F50L |
Missense |
2/17 |
- |
1 |
10-73039648-C-G |
c.150C>G |
p.F50L |
Missense |
2/17 |
- |
1 |
10-73039653-A-G |
c.155A>G |
p.Q52R |
Missense |
2/17 |
- |
1 |
10-73039657-GC-G |
c.161del |
p.P54Hfs*7 |
Frameshift |
2/17 |
- |
1 |
10-73039663-G-A |
c.165G>A |
p.Q55= |
Synonymous |
2/17 |
- |
1 |
10-73039664-G-A |
c.166G>A |
p.D56N |
Missense |
2/17 |
- |
4 |
10-73039667-G-A |
c.169G>A |
p.A57T |
Missense |
2/17 |
- |
9 |
10-73039668-C-T |
c.170C>T |
p.A57V |
Missense |
2/17 |
- |
2 |
10-73039669-C-A |
c.171C>A |
p.A57= |
Synonymous |
2/17 |
- |
2 |
10-73039669-C-G |
c.171C>G |
p.A57= |
Synonymous |
2/17 |
- |
1 |
10-73039669-C-T |
c.171C>T |
p.A57= |
Synonymous |
2/17 |
- |
1 |
10-73039670-T-G |
c.172T>G |
p.Y58D |
Missense |
2/17 |
- |
3 |
10-73039671-A-G |
c.173A>G |
p.Y58C |
Missense |
2/17 |
- |
2 |
10-73039673-A-G |
c.175A>G |
p.I59V |
Missense |
2/17 |
- |
1 |
10-73039676-G-A |
c.178G>A |
p.V60M |
Missense |
2/17 |
- |
2 |
10-73039678-G-A |
c.180G>A |
p.V60= |
Synonymous |
2/17 |
- |
1 |
10-73039678-G-C |
c.180G>C |
p.V60= |
Synonymous |
2/17 |
- |
1 |
10-73039678-G-T |
c.180G>T |
p.V60= |
Synonymous |
2/17 |
- |
1 |
10-73039681-G-C |
c.183G>C |
p.K61N |
Missense |
2/17 |
- |
1 |
10-73039681-G-T |
c.183G>T |
p.K61N |
Missense |
2/17 |
- |
1 |
10-73039691-GTG-ATC |
c.193_195delinsATC |
p.V65I |
Missense |
2/17 |
- |
1 |
10-73039694-G-A |
c.196G>A |
p.E66K |
Missense |
2/17 |
- |
1 |
10-73039700-C-T |
c.202C>T |
p.R68C |
Missense |
2/17 |
- |
3 |
10-73039707-G-A |
c.209G>A |
p.R70H |
Missense |
2/17 |
- |
1 |
10-73039709-G-A |
c.211G>A |
p.A71T |
Missense |
2/17 |
- |
1 |
10-73039714-C-T |
c.216C>T |
p.F72= |
Synonymous |
2/17 |
- |
2 |
10-73039716-C-T |
c.218C>T |
p.P73L |
Missense |
2/17 |
- |
3 |
10-73039717-C-T |
c.219C>T |
p.P73= |
Synonymous |
2/17 |
- |
1 |
10-73039718-G-A |
c.220G>A |
p.A74T |
Missense |
2/17 |
- |
2 |
10-73039724-C-A |
c.226C>A |
p.Q76K |
Missense |
2/17 |
- |
1 |
10-73039725-A-G |
c.227A>G |
p.Q76R |
Missense |
2/17 |
- |
1 |
10-73039726-G-C |
c.228G>C |
p.Q76H |
Missense |
2/17 |
- |
2 |
10-73039726-G-T |
c.228G>T |
p.Q76H |
Missense |
2/17 |
- |
3 |
10-73039735-C-A |
c.237C>A |
p.F79L |
Missense |
2/17 |
- |
2 |
10-73039736-A-G |
c.238A>G |
p.K80E |
Missense |
2/17 |
- |
2 |
10-73039740-G-C |
c.242G>C |
p.C81S |
Missense |
2/17 |
- |
1 |
10-73039742-A-G |
c.244A>G |
p.N82D |
Missense |
2/17 |
- |
1 |
10-73039745-G-A |
c.247G>A |
p.G83S |
Missense |
2/17 |
- |
1 |
10-73039751-T-A |
c.253T>A |
p.W85R |
Missense |
2/17 |
- |
1 |
10-73039751-T-C |
c.253T>C |
p.W85R |
Missense |
2/17 |
- |
1 |
10-73039751-TGG-AAC |
c.253_255delinsAAC |
p.W85N |
Missense |
2/17 |
- |
2 |
10-73039758-G-C |
c.260G>C |
p.S87T |
Missense |
2/17 |
- |
1 |
10-73039766-G-A |
c.268G>A |
p.D90N |
Missense |
2/17 |
- |
1 |
10-73039770-A-G |
c.272A>G |
p.H91R |
Missense |
2/17 |
- |
1 |
10-73039771-C-T |
c.273C>T |
p.H91= |
Synonymous |
2/17 |
- |
1 |
10-73039772-G-A |
c.274G>A |
p.V92I |
Missense |
2/17 |
- |
2 |
10-73039778-C-T |
c.280C>T |
p.Q94* |
Nonsense |
2/17 |
- |
1 |
10-73039779-A-G |
c.281A>G |
p.Q94R |
Missense |
2/17 |
- |
3 |
10-73039787-C-A |
c.289C>A |
p.L97M |
Missense |
2/17 |
- |
1 |
10-73039787-CTG-TTT |
c.289_291delinsTTT |
p.L97F |
Missense |
2/17 |
- |
1 |
10-73039790-G-A |
c.292G>A |
p.D98N |
Missense |
2/17 |
- |
1 |
10-73039796-G-T |
c.298G>T |
p.A100S |
Missense |
2/17 |
- |
1 |
10-73039797-C-T |
c.299C>T |
p.A100V |
Missense |
2/17 |
- |
1 |
10-73039800-C-A |
c.302C>A |
p.T101N |
Missense |
2/17 |
- |
1 |
10-73039801-C-A |
c.303C>A |
p.T101= |
Synonymous |
2/17 |
- |
1 |
10-73039801-C-G |
c.303C>G |
p.T101= |
Synonymous |
2/17 |
- |
1 |
10-73039801-C-T |
c.303C>T |
p.T101= |
Synonymous |
2/17 |
- |
3 |
10-73039860-C-T |
c.304+58C>T |
- |
IntronicSNV |
- |
2/16 |
5 |
10-73044200-C-T |
c.305-277C>T |
- |
IntronicSNV |
- |
2/16 |
1 |
10-73044268-T-A |
c.305-209T>A |
- |
IntronicSNV |
- |
2/16 |
2 |
10-73044382-T-A |
c.305-95T>A |
- |
IntronicSNV |
- |
2/16 |
4 |
10-73044413-G-C |
c.305-64G>C |
- |
IntronicSNV |
- |
2/16 |
5 |
10-73044482-C-T |
c.310C>T |
p.R104W |
Missense |
3/17 |
- |
1 |
10-73044483-G-T |
c.311G>T |
p.R104L |
Missense |
3/17 |
- |
1 |
10-73044487-G-A |
c.315G>A |
p.V105= |
Synonymous |
3/17 |
- |
1 |
10-73044488-C-A |
c.316C>A |
p.R106S |
Missense |
3/17 |
- |
1 |
10-73044488-C-T |
c.316C>T |
p.R106C |
Missense |
3/17 |
- |
2 |
10-73044497-C-G |
c.325C>G |
p.Q109E |
Missense |
3/17 |
- |
1 |
10-73044497-C-T |
c.325C>T |
p.Q109* |
Nonsense |
3/17 |
- |
4 |
10-73044503-G-A |
c.331G>A |
p.E111K |
Missense |
3/17 |
- |
2 |
10-73044503-G-T |
c.331G>T |
p.E111* |
Nonsense |
3/17 |
- |
1 |
10-73044510-C-T |
c.338C>T |
p.S113L |
Missense |
3/17 |
- |
2 |
10-73044511-G-A |
c.339G>A |
p.S113= |
Synonymous |
3/17 |
- |
3 |
10-73044511-G-C |
c.339G>C |
p.S113= |
Synonymous |
3/17 |
- |
2 |
10-73044511-G-T |
c.339G>T |
p.S113= |
Synonymous |
3/17 |
- |
2 |
10-73044513-G-A |
c.341G>A |
p.R114Q |
Missense |
3/17 |
- |
1 |
10-73044518-C-T |
c.346C>T |
p.Q116* |
Nonsense |
3/17 |
- |
1 |
10-73044523-G-A |
c.351G>A |
p.V117= |
Synonymous |
3/17 |
- |
3 |
10-73044523-G-C |
c.351G>C |
p.V117= |
Synonymous |
3/17 |
- |
1 |
10-73044523-G-T |
c.351G>T |
p.V117= |
Synonymous |
3/17 |
- |
1 |
10-73044525-A-T |
c.353A>T |
p.E118V |
Missense |
3/17 |
- |
1 |
10-73044530-C-A |
c.358C>A |
p.L120I |
Missense |
3/17 |
- |
6 |
10-73044532-C-A |
c.360C>A |
p.L120= |
Synonymous |
3/17 |
- |
2 |
10-73044532-C-G |
c.360C>G |
p.L120= |
Synonymous |
3/17 |
- |
1 |
10-73044532-C-T |
c.360C>T |
p.L120= |
Synonymous |
3/17 |
- |
1 |
10-73044544-G-A |
c.372G>A |
p.E124= |
Synonymous |
3/17 |
- |
3 |
10-73044545-G-A |
c.373G>A |
p.D125N |
Missense |
3/17 |
- |
4 |
10-73044545-G-T |
c.373G>T |
p.D125Y |
Missense |
3/17 |
- |
2 |
10-73044553-G-C |
c.381G>C |
p.W127C |
Missense |
3/17 |
- |
1 |
10-73044553-G-T |
c.381G>T |
p.W127C |
Missense |
3/17 |
- |
1 |
10-73044557-C-A |
c.385C>A |
p.Q129K |
Missense |
3/17 |
- |
1 |
10-73044557-C-T |
c.385C>T |
p.Q129* |
Nonsense |
3/17 |
- |
1 |
10-73044558-A-T |
c.386A>T |
p.Q129L |
Missense |
3/17 |
- |
1 |
10-73044559-G-C |
c.387G>C |
p.Q129H |
Missense |
3/17 |
- |
1 |
10-73044559-G-T |
c.387G>T |
p.Q129H |
Missense |
3/17 |
- |
1 |
10-73044562-C-T |
c.390C>T |
p.C130= |
Synonymous |
3/17 |
- |
1 |
10-73044563-G-A |
c.391G>A |
p.V131M |
Missense |
3/17 |
- |
1 |
10-73044567-C-G |
c.395C>G |
p.A132G |
Missense |
3/17 |
- |
1 |
10-73044570-G-A |
c.398G>A |
p.W133* |
Nonsense |
3/17 |
- |
1 |
10-73044571-G-A |
c.399G>A |
p.W133* |
Nonsense |
3/17 |
- |
1 |
10-73044574-C-T |
c.402C>T |
p.S134= |
Synonymous |
3/17 |
- |
3 |
10-73044575-T-G |
c.403T>G |
p.S135A |
Missense |
3/17 |
- |
3 |
10-73044576-C-T |
c.404C>T |
p.S135F |
Missense |
3/17 |
- |
5 |
10-73044578-G-A |
c.406G>A |
p.A136T |
Missense |
3/17 |
- |
3 |
10-73044578-G-T |
c.406G>T |
p.A136S |
Missense |
3/17 |
- |
1 |
10-73044580-G-A |
c.408G>A |
p.A136= |
Synonymous |
3/17 |
- |
14 |
10-73044580-G-C |
c.408G>C |
p.A136= |
Synonymous |
3/17 |
- |
11 |
10-73044584-A-G |
c.412A>G |
p.T138A |
Missense |
3/17 |
- |
1 |
10-73044585-C-T |
c.413C>T |
p.T138I |
Missense |
3/17 |
- |
1 |
10-73044586-C-T |
c.414C>T |
p.T138= |
Synonymous |
3/17 |
- |
1 |
10-73044592-G-A |
c.420G>A |
p.K140= |
Synonymous |
3/17 |
- |
2 |
10-73044596-C-T |
c.424C>T |
p.R142C |
Missense |
3/17 |
- |
1 |
10-73044597-G-T |
c.425G>T |
p.R142L |
Missense |
3/17 |
- |
1 |
10-73044599-C-A |
c.427C>A |
p.R143= |
Synonymous |
3/17 |
- |
1 |
10-73044599-C-T |
c.427C>T |
p.R143* |
Nonsense |
3/17 |
- |
2 |
10-73044601-A-C |
c.429A>C |
p.R143= |
Synonymous |
3/17 |
- |
1 |
10-73044601-A-G |
c.429A>G |
p.R143= |
Synonymous |
3/17 |
- |
1 |
10-73044601-A-T |
c.429A>T |
p.R143= |
Synonymous |
3/17 |
- |
1 |
10-73044604-C-A |
c.432C>A |
p.A144= |
Synonymous |
3/17 |
- |
1 |
10-73044604-C-G |
c.432C>G |
p.A144= |
Synonymous |
3/17 |
- |
1 |
10-73044604-C-T |
c.432C>T |
p.A144= |
Synonymous |
3/17 |
- |
1 |
10-73044608-G-C |
c.436G>C |
p.V146L |
Missense |
3/17 |
- |
1 |
10-73044611-C-G |
c.439C>G |
p.R147G |
Missense |
3/17 |
- |
1 |
10-73044611-C-T |
c.439C>T |
p.R147C |
Missense |
3/17 |
- |
3 |
10-73044614-A-G |
c.442A>G |
p.I148V |
Missense |
3/17 |
- |
2 |
10-73044617-G-A |
c.445G>A |
p.A149T |
Missense |
3/17 |
- |
1 |
10-73044621-G-T |
c.448+1G>T |
- |
IntronicSNV |
- |
3/16 |
1 |
10-73044674-G-A |
c.448+54G>A |
- |
IntronicSNV |
- |
3/16 |
7 |
10-73044674-G-C |
c.448+54G>C |
- |
IntronicSNV |
- |
3/16 |
5 |
10-73044740-G-A |
c.448+120G>A |
- |
IntronicSNV |
- |
3/16 |
1 |
10-73044806-T-C |
c.448+186T>C |
- |
IntronicSNV |
- |
3/16 |
1 |
10-73044845-TC-T |
c.448+230del |
- |
IntronicDeletion |
- |
3/16 |
1 |
10-73044924-A-G |
c.449-159A>G |
- |
IntronicSNV |
- |
3/16 |
6 |
10-73044924-A-T |
c.449-159A>T |
- |
IntronicSNV |
- |
3/16 |
6 |
10-73044930-C-G |
c.449-153C>G |
- |
IntronicSNV |
- |
3/16 |
6 |
10-73044930-C-T |
c.449-153C>T |
- |
IntronicSNV |
- |
3/16 |
6 |
10-73044954-A-G |
c.449-129A>G |
- |
IntronicSNV |
- |
3/16 |
5 |
10-73045083-A-C |
c.449A>C |
p.Y150S |
Missense |
4/17 |
- |
1 |
10-73045085-CTG-TTT |
c.451_453delinsTTT |
p.L151F |
Missense |
4/17 |
- |
1 |
10-73045088-C-T |
c.454C>T |
p.R152C |
Missense |
4/17 |
- |
1 |
10-73045090-C-A |
c.456C>A |
p.R152= |
Synonymous |
4/17 |
- |
1 |
10-73045090-C-G |
c.456C>G |
p.R152= |
Synonymous |
4/17 |
- |
1 |
10-73045090-C-T |
c.456C>T |
p.R152= |
Synonymous |
4/17 |
- |
1 |
10-73045095-A-T |
c.461A>T |
p.N154I |
Missense |
4/17 |
- |
1 |
10-73045099-C-T |
c.465C>T |
p.F155= |
Synonymous |
4/17 |
- |
1 |
10-73045100-G-A |
c.466G>A |
p.D156N |
Missense |
4/17 |
- |
1 |
10-73045116-GC-AG |
c.482_483delinsAG |
p.G161E |
Missense |
4/17 |
- |
1 |
10-73045121-G-A |
c.487G>A |
p.E163K |
Missense |
4/17 |
- |
1 |
10-73045123-G-A |
c.489G>A |
p.E163= |
Synonymous |
4/17 |
- |
1 |
10-73045127-C-T |
c.493C>T |
p.P165S |
Missense |
4/17 |
- |
1 |
10-73045135-C-A |
c.501C>A |
p.D167E |
Missense |
4/17 |
- |
1 |
10-73045135-C-G |
c.501C>G |
p.D167E |
Missense |
4/17 |
- |
1 |
10-73045137-A-G |
c.503A>G |
p.H168R |
Missense |
4/17 |
- |
1 |
10-73045138-T-A |
c.504T>A |
p.H168Q |
Missense |
4/17 |
- |
1 |
10-73045139-G-T |
c.505G>T |
p.E169* |
Nonsense |
4/17 |
- |
1 |
10-73045140-A-T |
c.506A>T |
p.E169V |
Missense |
4/17 |
- |
1 |
10-73045142-G-C |
c.508G>C |
p.V170L |
Missense |
4/17 |
- |
1 |
10-73045145-C-T |
c.511C>T |
p.L171F |
Missense |
4/17 |
- |
1 |
10-73045148-C-T |
c.514C>T |
p.L172= |
Synonymous |
4/17 |
- |
1 |
10-73045157-CGC-TGG |
c.523_525delinsTGG |
p.R175W |
Missense |
4/17 |
- |
1 |
10-73045158-G-A |
c.524G>A |
p.R175H |
Missense |
4/17 |
- |
3 |
10-73045159-C-G |
c.525C>G |
p.R175= |
Synonymous |
4/17 |
- |
1 |
10-73045160-C-T |
c.526C>T |
p.P176S |
Missense |
4/17 |
- |
2 |
10-73045163-C-T |
c.529C>T |
p.P177S |
Missense |
4/17 |
- |
1 |
10-73045164-C-T |
c.530C>T |
p.P177L |
Missense |
4/17 |
- |
4 |
10-73045165-G-A |
c.531G>A |
p.P177= |
Synonymous |
4/17 |
- |
4 |
10-73045165-G-C |
c.531G>C |
p.P177= |
Synonymous |
4/17 |
- |
1 |
10-73045165-G-T |
c.531G>T |
p.P177= |
Synonymous |
4/17 |
- |
1 |
10-73045166-G-A |
c.532G>A |
p.E178K |
Missense |
4/17 |
- |
1 |
10-73045168-G-C |
c.534G>C |
p.E178D |
Missense |
4/17 |
- |
1 |
10-73045168-G-T |
c.534G>T |
p.E178D |
Missense |
4/17 |
- |
1 |
10-73045167-A-AG |
c.538dup |
p.V180Gfs*12 |
Frameshift |
4/17 |
- |
1 |
10-73045175-C-T |
c.541C>T |
p.P181S |
Missense |
4/17 |
- |
2 |
10-73045177-T-G |
c.543T>G |
p.P181= |
Synonymous |
4/17 |
- |
3 |
10-73045184-G-A |
c.550G>A |
p.E184K |
Missense |
4/17 |
- |
2 |
10-73045284-C-G |
c.552+98C>G |
- |
IntronicSNV |
- |
4/16 |
3 |
10-73046099-A-G |
c.553-347A>G |
- |
IntronicSNV |
- |
4/16 |
1 |
10-73046099-A-T |
c.553-347A>T |
- |
IntronicSNV |
- |
4/16 |
1 |
10-73046421-T-C |
c.553-25T>C |
- |
IntronicSNV |
- |
4/16 |
2 |
10-73046446-G-A |
c.553G>A |
p.V185M |
Missense |
5/17 |
- |
1 |
10-73046449-G-A |
c.556G>A |
p.E186K |
Missense |
5/17 |
- |
1 |
10-73046451-A-G |
c.558A>G |
p.E186= |
Synonymous |
5/17 |
- |
2 |
10-73046452-T-A |
c.559T>A |
p.W187R |
Missense |
5/17 |
- |
1 |
10-73046452-T-C |
c.559T>C |
p.W187R |
Missense |
5/17 |
- |
1 |
10-73046453-G-A |
c.560G>A |
p.W187* |
Nonsense |
5/17 |
- |
1 |
10-73046454-G-A |
c.561G>A |
p.W187* |
Nonsense |
5/17 |
- |
1 |
10-73046457-C-T |
c.564C>T |
p.L188= |
Synonymous |
5/17 |
- |
2 |
10-73046460-G-C |
c.567G>C |
p.K189N |
Missense |
5/17 |
- |
2 |
10-73046460-G-T |
c.567G>T |
p.K189N |
Missense |
5/17 |
- |
3 |
10-73046464-G-C |
c.571G>C |
p.E191Q |
Missense |
5/17 |
- |
1 |
10-73046465-A-C |
c.572A>C |
p.E191A |
Missense |
5/17 |
- |
1 |
10-73046465-A-G |
c.572A>G |
p.E191G |
Missense |
5/17 |
- |
2 |
10-73046467-G-A |
c.574G>A |
p.D192N |
Missense |
5/17 |
- |
4 |
10-73046480-C-A |
c.587C>A |
p.P196H |
Missense |
5/17 |
- |
1 |
10-73046488-G-T |
c.595G>T |
p.D199Y |
Missense |
5/17 |
- |
1 |
10-73046491-A-G |
c.598A>G |
p.T200A |
Missense |
5/17 |
- |
1 |
10-73046492-C-T |
c.599C>T |
p.T200I |
Missense |
5/17 |
- |
1 |
10-73046499-C-T |
c.606C>T |
p.F202= |
Synonymous |
5/17 |
- |
1 |
10-73046505-C-A |
c.612C>A |
p.L204= |
Synonymous |
5/17 |
- |
2 |
10-73046505-C-G |
c.612C>G |
p.L204= |
Synonymous |
5/17 |
- |
2 |
10-73046505-C-T |
c.612C>T |
p.L204= |
Synonymous |
5/17 |
- |
2 |
10-73046510-T-C |
c.617T>C |
p.I206T |
Missense |
5/17 |
- |
1 |
10-73046511-C-T |
c.618C>T |
p.I206= |
Synonymous |
5/17 |
- |
2 |
10-73046512-G-A |
c.619G>A |
p.D207N |
Missense |
5/17 |
- |
5 |
10-73046512-G-T |
c.619G>T |
p.D207Y |
Missense |
5/17 |
- |
1 |
10-73046515-C-T |
c.622C>T |
p.H208Y |
Missense |
5/17 |
- |
1 |
10-73046516-A-G |
c.623A>G |
p.H208R |
Missense |
5/17 |
- |
1 |
10-73046521-C-T |
c.628C>T |
p.L210F |
Missense |
5/17 |
- |
1 |
10-73046526-C-T |
c.633C>T |
p.I211= |
Synonymous |
5/17 |
- |
2 |
10-73046528-T-C |
c.635T>C |
p.I212T |
Missense |
5/17 |
- |
1 |
10-73046528-T-G |
c.635T>G |
p.I212S |
Missense |
5/17 |
- |
1 |
10-73046530-C-T |
c.637C>T |
p.R213C |
Missense |
5/17 |
- |
8 |
10-73046531-G-A |
c.638G>A |
p.R213H |
Missense |
5/17 |
- |
1 |
10-73046531-G-C |
c.638G>C |
p.R213P |
Missense |
5/17 |
- |
1 |
10-73046532-C-T |
c.639C>T |
p.R213= |
Synonymous |
5/17 |
- |
1 |
10-73046534-A-G |
c.641A>G |
p.Q214R |
Missense |
5/17 |
- |
1 |
10-73046535-G-T |
c.642G>T |
p.Q214H |
Missense |
5/17 |
- |
1 |
10-73046536-G-T |
c.643G>T |
p.A215S |
Missense |
5/17 |
- |
1 |
10-73046537-C-A |
c.644C>A |
p.A215D |
Missense |
5/17 |
- |
2 |
10-73046539-C-A |
c.646C>A |
p.R216S |
Missense |
5/17 |
- |
1 |
10-73046539-C-T |
c.646C>T |
p.R216C |
Missense |
5/17 |
- |
2 |
10-73046540-G-A |
c.647G>A |
p.R216H |
Missense |
5/17 |
- |
4 |
10-73046540-GC-G |
c.649del |
p.L217Cfs*29 |
Frameshift |
5/17 |
- |
1 |
10-73046546-C-A |
c.653C>A |
p.S218* |
Nonsense |
5/17 |
- |
1 |
10-73046546-C-G |
c.653C>G |
p.S218W |
Missense |
5/17 |
- |
3 |
10-73046546-C-T |
c.653C>T |
p.S218L |
Missense |
5/17 |
- |
4 |
10-73046552-C-T |
c.659C>T |
p.T220I |
Missense |
5/17 |
- |
1 |
10-73046554-G-A |
c.661G>A |
p.A221T |
Missense |
5/17 |
- |
1 |
10-73046558-A-G |
c.665A>G |
p.N222S |
Missense |
5/17 |
- |
1 |
10-73046564-C-T |
c.671C>T |
p.T224I |
Missense |
5/17 |
- |
2 |
10-73046568-C-A |
c.675C>A |
p.C225* |
Nonsense |
5/17 |
- |
1 |
10-73046569-G-A |
c.676G>A |
p.V226M |
Missense |
5/17 |
- |
3 |
10-73046569-G-C |
c.676G>C |
p.V226L |
Missense |
5/17 |
- |
1 |
10-73046569-G-T |
c.676G>T |
p.V226L |
Missense |
5/17 |
- |
1 |
10-73046571-G-A |
c.678G>A |
p.V226= |
Synonymous |
5/17 |
- |
3 |
10-73046576-A-G |
c.683A>G |
p.K228R |
Missense |
5/17 |
- |
1 |
10-73046577-G-A |
c.684G>A |
p.K228= |
Synonymous |
5/17 |
- |
1 |
10-73046577-G-C |
c.684G>C |
p.K228N |
Missense |
5/17 |
- |
5 |
10-73046577-G-T |
c.684G>T |
p.K228N |
Missense |
5/17 |
- |
3 |
10-73046578-A-G |
c.685A>G |
p.N229D |
Missense |
5/17 |
- |
1 |
10-73046583-C-T |
c.690C>T |
p.I230= |
Synonymous |
5/17 |
- |
3 |
10-73046584-G-A |
c.691G>A |
p.V231M |
Missense |
5/17 |
- |
1 |
10-73046593-C-A |
c.700C>A |
p.R234S |
Missense |
5/17 |
- |
1 |
10-73046593-C-T |
c.700C>T |
p.R234C |
Missense |
5/17 |
- |
2 |
10-73046594-G-A |
c.701G>A |
p.R234H |
Missense |
5/17 |
- |
1 |
10-73046595-C-A |
c.702C>A |
p.R234= |
Synonymous |
5/17 |
- |
2 |
10-73046595-C-G |
c.702C>G |
p.R234= |
Synonymous |
5/17 |
- |
2 |
10-73046595-C-T |
c.702C>T |
p.R234= |
Synonymous |
5/17 |
- |
2 |
10-73046597-G-A |
c.704G>A |
p.R235Q |
Missense |
5/17 |
- |
2 |
10-73046599-A-G |
c.706A>G |
p.S236G |
Missense |
5/17 |
- |
1 |
10-73046610-C-T |
c.717C>T |
p.A239= |
Synonymous |
5/17 |
- |
1 |
10-73046611-A-G |
c.718A>G |
p.T240A |
Missense |
5/17 |
- |
1 |
10-73046612-CC-GG |
c.719_720inv |
p.T240R |
Missense |
5/17 |
- |
1 |
10-73046612-CC-TG |
c.719_720delinsTG |
p.T240M |
Missense |
5/17 |
- |
1 |
10-73046613-C-A |
c.720C>A |
p.T240= |
Synonymous |
5/17 |
- |
1 |
10-73046613-C-G |
c.720C>G |
p.T240= |
Synonymous |
5/17 |
- |
2 |
10-73046613-C-T |
c.720C>T |
p.T240= |
Synonymous |
5/17 |
- |
1 |
10-73046614-G-A |
c.721G>A |
p.V241I |
Missense |
5/17 |
- |
3 |
10-73046617-A-G |
c.724A>G |
p.I242V |
Missense |
5/17 |
- |
16 |
10-73046618-T-G |
c.725T>G |
p.I242S |
Missense |
5/17 |
- |
1 |
10-73046619-C-A |
c.726C>A |
p.I242= |
Synonymous |
5/17 |
- |
1 |
10-73046619-C-T |
c.726C>T |
p.I242= |
Synonymous |
5/17 |
- |
1 |
10-73046620-G-A |
c.727G>A |
p.V243I |
Missense |
5/17 |
- |
1 |
10-73046620-G-C |
c.727G>C |
p.V243L |
Missense |
5/17 |
- |
1 |
10-73046622-C-A |
c.729C>A |
p.V243= |
Synonymous |
5/17 |
- |
1 |
10-73046622-C-G |
c.729C>G |
p.V243= |
Synonymous |
5/17 |
- |
1 |
10-73046622-C-T |
c.729C>T |
p.V243= |
Synonymous |
5/17 |
- |
1 |
10-73046623-T-C |
c.730T>C |
p.Y244H |
Missense |
5/17 |
- |
2 |
10-73046625-C-T |
c.732C>T |
p.Y244= |
Synonymous |
5/17 |
- |
10 |
10-73046626-G-A |
c.733G>A |
p.V245M |
Missense |
5/17 |
- |
2 |
10-73046627-G-T |
c.733+1G>T |
- |
IntronicSNV |
- |
5/16 |
2 |
10-73046631-G-A |
c.733+5G>A |
- |
IntronicSNV |
- |
5/16 |
1 |
10-73047087-C-A |
c.734-268C>A |
- |
IntronicSNV |
- |
5/16 |
1 |
10-73047087-C-G |
c.734-268C>G |
- |
IntronicSNV |
- |
5/16 |
1 |
10-73047125-G-A |
c.734-230G>A |
- |
IntronicSNV |
- |
5/16 |
1 |
10-73047125-G-T |
c.734-230G>T |
- |
IntronicSNV |
- |
5/16 |
1 |
10-73047151-A-T |
c.734-204A>T |
- |
IntronicSNV |
- |
5/16 |
1 |
10-73047182-G-A |
c.734-173G>A |
- |
IntronicSNV |
- |
5/16 |
2 |
10-73047182-G-C |
c.734-173G>C |
- |
IntronicSNV |
- |
5/16 |
2 |
10-73047276-G-A |
c.734-79G>A |
- |
IntronicSNV |
- |
5/16 |
1 |
10-73047362-C-A |
c.741C>A |
p.G247= |
Synonymous |
6/17 |
- |
1 |
10-73047362-C-G |
c.741C>G |
p.G247= |
Synonymous |
6/17 |
- |
1 |
10-73047362-C-T |
c.741C>T |
p.G247= |
Synonymous |
6/17 |
- |
3 |
10-73047363-G-A |
c.742G>A |
p.G248S |
Missense |
6/17 |
- |
1 |
10-73047367-G-A |
c.746G>A |
p.W249* |
Nonsense |
6/17 |
- |
1 |
10-73047368-G-A |
c.747G>A |
p.W249* |
Nonsense |
6/17 |
- |
1 |
10-73047371-C-T |
c.750C>T |
p.S250= |
Synonymous |
6/17 |
- |
2 |
10-73047379-C-T |
c.758C>T |
p.A253V |
Missense |
6/17 |
- |
3 |
10-73047380-A-C |
c.759A>C |
p.A253= |
Synonymous |
6/17 |
- |
1 |
10-73047380-A-G |
c.759A>G |
p.A253= |
Synonymous |
6/17 |
- |
1 |
10-73047380-A-T |
c.759A>T |
p.A253= |
Synonymous |
6/17 |
- |
1 |
10-73047385-G-A |
c.764G>A |
p.W255* |
Nonsense |
6/17 |
- |
5 |
10-73047389-A-C |
c.768A>C |
p.S256= |
Synonymous |
6/17 |
- |
1 |
10-73047397-C-A |
c.776C>A |
p.S259Y |
Missense |
6/17 |
- |
2 |
10-73047398-C-T |
c.777C>T |
p.S259= |
Synonymous |
6/17 |
- |
1 |
10-73047402-CGC-AAG |
c.781_783delinsAAG |
p.R261K |
Missense |
6/17 |
- |
1 |
10-73047403-G-T |
c.782G>T |
p.R261L |
Missense |
6/17 |
- |
5 |
10-73047404-C-A |
c.783C>A |
p.R261= |
Synonymous |
6/17 |
- |
1 |
10-73047404-C-G |
c.783C>G |
p.R261= |
Synonymous |
6/17 |
- |
1 |
10-73047404-C-T |
c.783C>T |
p.R261= |
Synonymous |
6/17 |
- |
1 |
10-73047408-G-A |
c.787G>A |
p.G263S |
Missense |
6/17 |
- |
1 |
10-73047411-C-T |
c.790C>T |
p.R264* |
Nonsense |
6/17 |
- |
1 |
10-73047419-G-C |
c.798G>C |
p.W266C |
Missense |
6/17 |
- |
1 |
10-73047419-G-T |
c.798G>T |
p.W266C |
Missense |
6/17 |
- |
1 |
10-73047426-C-G |
c.805C>G |
p.R269G |
Missense |
6/17 |
- |
1 |
10-73047426-C-T |
c.805C>T |
p.R269C |
Missense |
6/17 |
- |
4 |
10-73047427-GC-AA |
c.806_807delinsAA |
p.R269Q |
Missense |
6/17 |
- |
2 |
10-73047428-C-A |
c.807C>A |
p.R269= |
Synonymous |
6/17 |
- |
2 |
10-73047428-C-G |
c.807C>G |
p.R269= |
Synonymous |
6/17 |
- |
2 |
10-73047428-C-T |
c.807C>T |
p.R269= |
Synonymous |
6/17 |
- |
2 |
10-73047432-C-T |
c.811C>T |
p.R271W |
Missense |
6/17 |
- |
7 |
10-73047433-G-A |
c.812G>A |
p.R271Q |
Missense |
6/17 |
- |
3 |
10-73047435-A-G |
c.814A>G |
p.T272A |
Missense |
6/17 |
- |
1 |
10-73047438-T-G |
c.817T>G |
p.C273G |
Missense |
6/17 |
- |
1 |
10-73047439-G-A |
c.818G>A |
p.C273Y |
Missense |
6/17 |
- |
1 |
10-73047448-C-A |
c.827C>A |
p.P276H |
Missense |
6/17 |
- |
1 |
10-73047448-C-G |
c.827C>G |
p.P276R |
Missense |
6/17 |
- |
1 |
10-73047448-C-T |
c.827C>T |
p.P276L |
Missense |
6/17 |
- |
2 |
10-73047450-G-A |
c.829G>A |
p.A277T |
Missense |
6/17 |
- |
3 |
10-73047456-CT-AC |
c.835_836delinsAC |
p.L279T |
Missense |
6/17 |
- |
1 |
10-73047461-C-T |
c.840C>T |
p.N280= |
Synonymous |
6/17 |
- |
1 |
10-73047462-G-T |
c.841G>T |
p.G281* |
Nonsense |
6/17 |
- |
1 |
10-73047463-G-A |
c.842G>A |
p.G281E |
Missense |
6/17 |
- |
2 |
10-73047463-G-C |
c.842G>C |
p.G281A |
Missense |
6/17 |
- |
1 |
10-73047465-G-A |
c.844G>A |
p.G282R |
Missense |
6/17 |
- |
1 |
10-73047465-G-C |
c.844G>C |
p.G282R |
Missense |
6/17 |
- |
1 |
10-73047466-G-A |
c.845G>A |
p.G282E |
Missense |
6/17 |
- |
1 |
10-73047469-C-A |
c.848C>A |
p.A283D |
Missense |
6/17 |
- |
1 |
10-73047476-C-T |
c.855C>T |
p.C285= |
Synonymous |
6/17 |
- |
2 |
10-73047477-G-A |
c.856G>A |
p.E286K |
Missense |
6/17 |
- |
3 |
10-73047478-A-G |
c.857A>G |
p.E286G |
Missense |
6/17 |
- |
1 |
10-73047480-G-A |
c.859G>A |
p.G287S |
Missense |
6/17 |
- |
1 |
10-73047481-G-A |
c.860G>A |
p.G287D |
Missense |
6/17 |
- |
6 |
10-73047481-G-T |
c.860G>T |
p.G287V |
Missense |
6/17 |
- |
1 |
10-73047482-C-T |
c.861C>T |
p.G287= |
Synonymous |
6/17 |
- |
1 |
10-73047483-C-T |
c.862C>T |
p.Q288* |
Nonsense |
6/17 |
- |
2 |
10-73047484-CA-C |
c.863del |
p.Q288Rfs*73 |
Frameshift |
6/17 |
- |
1 |
10-73047485-G-A |
c.864G>A |
p.Q288= |
Synonymous |
6/17 |
- |
1 |
10-73047486-G-T |
c.865G>T |
p.A289S |
Missense |
6/17 |
- |
1 |
10-73047487-C-T |
c.866C>T |
p.A289V |
Missense |
6/17 |
- |
1 |
10-73047492-C-T |
c.871C>T |
p.Q291* |
Nonsense |
6/17 |
- |
3 |
10-73047494-G-A |
c.873G>A |
p.Q291= |
Synonymous |
6/17 |
- |
2 |
10-73047497-G-C |
c.876G>C |
p.K292N |
Missense |
6/17 |
- |
1 |
10-73047497-G-T |
c.876G>T |
p.K292N |
Missense |
6/17 |
- |
1 |
10-73047499-C-T |
c.878C>T |
p.T293I |
Missense |
6/17 |
- |
1 |
10-73047500-C-T |
c.879C>T |
p.T293= |
Synonymous |
6/17 |
- |
2 |
10-73047501-G-A |
c.880G>A |
p.A294T |
Missense |
6/17 |
- |
1 |
10-73047503-C-A |
c.882C>A |
p.A294= |
Synonymous |
6/17 |
- |
1 |
10-73047503-C-G |
c.882C>G |
p.A294= |
Synonymous |
6/17 |
- |
1 |
10-73047503-C-T |
c.882C>T |
p.A294= |
Synonymous |
6/17 |
- |
1 |
10-73047508-C-T |
c.887C>T |
p.T296I |
Missense |
6/17 |
- |
1 |
10-73047519-C-G |
c.898C>G |
p.P300A |
Missense |
6/17 |
- |
1 |
10-73047520-C-T |
c.899C>T |
p.P300L |
Missense |
6/17 |
- |
1 |
10-73047555-C-T |
c.901+33C>T |
- |
IntronicSNV |
- |
6/16 |
8 |
10-73047593-G-A |
c.901+71G>A |
- |
IntronicSNV |
- |
6/16 |
6 |
10-73047690-C-T |
c.901+168C>T |
- |
IntronicSNV |
- |
6/16 |
5 |
10-73047897-A-G |
c.901+375A>G |
- |
IntronicSNV |
- |
6/16 |
2 |
10-73048326-C-A |
c.903C>A |
p.V301= |
Synonymous |
7/17 |
- |
1 |
10-73048326-C-G |
c.903C>G |
p.V301= |
Synonymous |
7/17 |
- |
1 |
10-73048326-C-T |
c.903C>T |
p.V301= |
Synonymous |
7/17 |
- |
3 |
10-73048335-G-A |
c.912G>A |
p.A304= |
Synonymous |
7/17 |
- |
5 |
10-73048335-G-C |
c.912G>C |
p.A304= |
Synonymous |
7/17 |
- |
3 |
10-73048335-G-T |
c.912G>T |
p.A304= |
Synonymous |
7/17 |
- |
3 |
10-73048339-A-G |
c.916A>G |
p.T306A |
Missense |
7/17 |
- |
1 |
10-73048340-C-T |
c.917C>T |
p.T306M |
Missense |
7/17 |
- |
4 |
10-73048341-G-A |
c.918G>A |
p.T306= |
Synonymous |
7/17 |
- |
1 |
10-73048342-G-A |
c.919G>A |
p.E307K |
Missense |
7/17 |
- |
3 |
10-73048342-G-T |
c.919G>T |
p.E307* |
Nonsense |
7/17 |
- |
1 |
10-73048345-T-A |
c.922T>A |
p.W308R |
Missense |
7/17 |
- |
2 |
10-73048345-T-C |
c.922T>C |
p.W308R |
Missense |
7/17 |
- |
2 |
10-73048347-G-A |
c.924G>A |
p.W308* |
Nonsense |
7/17 |
- |
4 |
10-73048351-A-C |
c.928A>C |
p.K310Q |
Missense |
7/17 |
- |
2 |
10-73048355-G-A |
c.932G>A |
p.W311* |
Nonsense |
7/17 |
- |
2 |
10-73048358-C-T |
c.935C>T |
p.S312L |
Missense |
7/17 |
- |
1 |
10-73048361-C-T |
c.938C>T |
p.A313V |
Missense |
7/17 |
- |
1 |
10-73048371-T-A |
c.948T>A |
p.T316= |
Synonymous |
7/17 |
- |
1 |
10-73048371-T-C |
c.948T>C |
p.T316= |
Synonymous |
7/17 |
- |
1 |
10-73048371-T-G |
c.948T>G |
p.T316= |
Synonymous |
7/17 |
- |
1 |
10-73048372-G-A |
c.949G>A |
p.E317K |
Missense |
7/17 |
- |
1 |
10-73048387-C-T |
c.964C>T |
p.R322C |
Missense |
7/17 |
- |
2 |
10-73048388-G-A |
c.965G>A |
p.R322H |
Missense |
7/17 |
- |
8 |
10-73048393-CGC-TGG |
c.970_972delinsTGG |
p.R324W |
Missense |
7/17 |
- |
1 |
10-73048393-C-T |
c.970C>T |
p.R324C |
Missense |
7/17 |
- |
2 |
10-73048396-G-A |
c.973G>A |
p.E325K |
Missense |
7/17 |
- |
3 |
10-73048396-G-C |
c.973G>C |
p.E325Q |
Missense |
7/17 |
- |
1 |
10-73048406-C-T |
c.983C>T |
p.A328V |
Missense |
7/17 |
- |
1 |
10-73048407-G-A |
c.984G>A |
p.A328= |
Synonymous |
7/17 |
- |
1 |
10-73048407-G-C |
c.984G>C |
p.A328= |
Synonymous |
7/17 |
- |
1 |
10-73048407-G-T |
c.984G>T |
p.A328= |
Synonymous |
7/17 |
- |
1 |
10-73048414-C-A |
c.991C>A |
p.P331T |
Missense |
7/17 |
- |
1 |
10-73048416-C-A |
c.993C>A |
p.P331= |
Synonymous |
7/17 |
- |
2 |
10-73048416-C-G |
c.993C>G |
p.P331= |
Synonymous |
7/17 |
- |
2 |
10-73048416-C-T |
c.993C>T |
p.P331= |
Synonymous |
7/17 |
- |
2 |
10-73048419-G-C |
c.996G>C |
p.Q332H |
Missense |
7/17 |
- |
1 |
10-73048421-A-C |
c.998A>C |
p.N333T |
Missense |
7/17 |
- |
1 |
10-73048423-G-A |
c.1000G>A |
p.G334R |
Missense |
7/17 |
- |
2 |
10-73048423-GG-AA |
c.1000_1001delinsAA |
p.G334K |
Missense |
7/17 |
- |
3 |
10-73048424-G-A |
c.1001G>A |
p.G334E |
Missense |
7/17 |
- |
6 |
10-73048426-G-A |
c.1003G>A |
p.G335S |
Missense |
7/17 |
- |
1 |
10-73048430-G-A |
c.1007G>A |
p.R336H |
Missense |
7/17 |
- |
1 |
10-73048430-GT-AA |
c.1007_1008delinsAA |
p.R336Q |
Missense |
7/17 |
- |
1 |
10-73048441-G-A |
c.1018G>A |
p.G340R |
Missense |
7/17 |
- |
1 |
10-73048441-G-C |
c.1018G>C |
p.G340R |
Missense |
7/17 |
- |
1 |
10-73048442-G-C |
c.1019G>C |
p.G340A |
Missense |
7/17 |
- |
1 |
10-73048445-C-T |
c.1022C>T |
p.T341M |
Missense |
7/17 |
- |
4 |
10-73048446-G-T |
c.1023G>T |
p.T341= |
Synonymous |
7/17 |
- |
2 |
10-73048448-T-C |
c.1025T>C |
p.L342P |
Missense |
7/17 |
- |
1 |
10-73048450-C-A |
c.1027C>A |
p.L343I |
Missense |
7/17 |
- |
1 |
10-73048450-C-CAAA |
c.1027_1028insAAA |
p.L343delinsQI |
MultiAAMissense |
7/17 |
- |
1 |
10-73048450-CTC-ATG |
c.1027_1029delinsATG |
p.L343M |
Missense |
7/17 |
- |
1 |
10-73048453-G-A |
c.1030G>A |
p.D344N |
Missense |
7/17 |
- |
4 |
10-73048456-TC-CT |
c.1033_1034delinsCT |
p.S345L |
Missense |
7/17 |
- |
1 |
10-73048470-A-C |
c.1047A>C |
p.T349= |
Synonymous |
7/17 |
- |
2 |
10-73048470-A-G |
c.1047A>G |
p.T349= |
Synonymous |
7/17 |
- |
2 |
10-73048470-A-T |
c.1047A>T |
p.T349= |
Synonymous |
7/17 |
- |
1 |
10-73048632-T-C |
c.1067-83T>C |
- |
IntronicSNV |
- |
7/16 |
3 |
10-73048715-A-G |
c.1067A>G |
p.N356S |
Missense |
8/17 |
- |
2 |
10-73048716-T-C |
c.1068T>C |
p.N356= |
Synonymous |
8/17 |
- |
1 |
10-73048719-G-C |
c.1071G>C |
p.K357N |
Missense |
8/17 |
- |
1 |
10-73048719-G-T |
c.1071G>T |
p.K357N |
Missense |
8/17 |
- |
1 |
10-73048726-C-A |
c.1078C>A |
p.L360I |
Missense |
8/17 |
- |
1 |
10-73048728-A-G |
c.1080A>G |
p.L360= |
Synonymous |
8/17 |
- |
1 |
10-73048729-A-G |
c.1081A>G |
p.S361G |
Missense |
8/17 |
- |
1 |
10-73048730-G-A |
c.1082G>A |
p.S361N |
Missense |
8/17 |
- |
2 |
10-73048729-A-C |
c.1081A>C |
p.S361R |
Missense |
8/17 |
- |
1 |
10-73048731-C-A |
c.1083C>A |
p.S361R |
Missense |
8/17 |
- |
1 |
10-73048731-C-G |
c.1083C>G |
p.S361R |
Missense |
8/17 |
- |
1 |
10-73048731-C-T |
c.1083C>T |
p.S361= |
Synonymous |
8/17 |
- |
1 |
10-73048732-G-A |
c.1084G>A |
p.D362N |
Missense |
8/17 |
- |
1 |
10-73048736-C-T |
c.1088C>T |
p.P363L |
Missense |
8/17 |
- |
1 |
10-73048737-C-A |
c.1089C>A |
p.P363= |
Synonymous |
8/17 |
- |
1 |
10-73048737-C-G |
c.1089C>G |
p.P363= |
Synonymous |
8/17 |
- |
1 |
10-73048737-C-T |
c.1089C>T |
p.P363= |
Synonymous |
8/17 |
- |
1 |
10-73048743-C-T |
c.1095C>T |
p.S365= |
Synonymous |
8/17 |
- |
1 |
10-73048814-C-T |
c.1099+67C>T |
- |
IntronicSNV |
- |
8/16 |
1 |
10-73048954-T-C |
c.1099+207T>C |
- |
IntronicSNV |
- |
8/16 |
2 |
10-73050637-C-CTG |
c.1100-34_1100-33dup |
- |
IntronicInsertion |
- |
8/16 |
4 |
10-73048747-C-T |
c.1099C>T |
p.L367= |
Synonymous |
8/17 |
- |
1 |
10-73050673-G-A |
c.1101G>A |
p.L367= |
Synonymous |
9/17 |
- |
1 |
10-73050673-G-C |
c.1101G>C |
p.L367= |
Synonymous |
9/17 |
- |
1 |
10-73050673-G-T |
c.1101G>T |
p.L367= |
Synonymous |
9/17 |
- |
1 |
10-73050674-C-T |
c.1102C>T |
p.L368= |
Synonymous |
9/17 |
- |
2 |
10-73050676-G-A |
c.1104G>A |
p.L368= |
Synonymous |
9/17 |
- |
1 |
10-73050676-G-C |
c.1104G>C |
p.L368= |
Synonymous |
9/17 |
- |
1 |
10-73050676-G-T |
c.1104G>T |
p.L368= |
Synonymous |
9/17 |
- |
1 |
10-73050677-G-A |
c.1105G>A |
p.E369K |
Missense |
9/17 |
- |
1 |
10-73050680-G-A |
c.1108G>A |
p.A370T |
Missense |
9/17 |
- |
1 |
10-73050685-A-G |
c.1113A>G |
p.S371= |
Synonymous |
9/17 |
- |
1 |
10-73050686-G-T |
c.1114G>T |
p.G372W |
Missense |
9/17 |
- |
4 |
10-73050687-G-A |
c.1115G>A |
p.G372E |
Missense |
9/17 |
- |
4 |
10-73050688-G-A |
c.1116G>A |
p.G372= |
Synonymous |
9/17 |
- |
1 |
10-73050693-C-T |
c.1121C>T |
p.A374V |
Missense |
9/17 |
- |
4 |
10-73050694-G-A |
c.1122G>A |
p.A374= |
Synonymous |
9/17 |
- |
2 |
10-73050694-G-C |
c.1122G>C |
p.A374= |
Synonymous |
9/17 |
- |
1 |
10-73050694-G-T |
c.1122G>T |
p.A374= |
Synonymous |
9/17 |
- |
1 |
10-73050696-C-A |
c.1124C>A |
p.A375E |
Missense |
9/17 |
- |
1 |
10-73050696-C-G |
c.1124C>G |
p.A375G |
Missense |
9/17 |
- |
1 |
10-73050696-C-T |
c.1124C>T |
p.A375V |
Missense |
9/17 |
- |
4 |
10-73050702-A-G |
c.1130A>G |
p.Y377C |
Missense |
9/17 |
- |
2 |
10-73050704-G-A |
c.1132G>A |
p.A378T |
Missense |
9/17 |
- |
1 |
10-73050706-G-T |
c.1134G>T |
p.A378= |
Synonymous |
9/17 |
- |
1 |
10-73050707-G-T |
c.1135G>T |
p.G379W |
Missense |
9/17 |
- |
1 |
10-73050708-GG-AC |
c.1136_1137delinsAC |
p.G379D |
Missense |
9/17 |
- |
1 |
10-73050708-G-T |
c.1136G>T |
p.G379V |
Missense |
9/17 |
- |
1 |
10-73050709-G-A |
c.1137G>A |
p.G379= |
Synonymous |
9/17 |
- |
1 |
10-73050712-C-T |
c.1140C>T |
p.L380= |
Synonymous |
9/17 |
- |
2 |
10-73050713-G-A |
c.1141G>A |
p.V381M |
Missense |
9/17 |
- |
3 |
10-73050716-G-A |
c.1144G>A |
p.V382M |
Missense |
9/17 |
- |
2 |
10-73050720-C-T |
c.1148C>T |
p.A383V |
Missense |
9/17 |
- |
2 |
10-73050721-C-A |
c.1149C>A |
p.A383= |
Synonymous |
9/17 |
- |
1 |
10-73050721-C-G |
c.1149C>G |
p.A383= |
Synonymous |
9/17 |
- |
1 |
10-73050721-C-T |
c.1149C>T |
p.A383= |
Synonymous |
9/17 |
- |
1 |
10-73050726-T-G |
c.1154T>G |
p.F385C |
Missense |
9/17 |
- |
1 |
10-73050727-C-T |
c.1155C>T |
p.F385= |
Synonymous |
9/17 |
- |
1 |
10-73050733-C-T |
c.1161C>T |
p.V387= |
Synonymous |
9/17 |
- |
1 |
10-73050734-G-A |
c.1162G>A |
p.V388M |
Missense |
9/17 |
- |
2 |
10-73050736-G-A |
c.1164G>A |
p.V388= |
Synonymous |
9/17 |
- |
1 |
10-73050736-G-C |
c.1164G>C |
p.V388= |
Synonymous |
9/17 |
- |
1 |
10-73050736-G-T |
c.1164G>T |
p.V388= |
Synonymous |
9/17 |
- |
1 |
10-73050738-C-T |
c.1166C>T |
p.A389V |
Missense |
9/17 |
- |
1 |
10-73050748-G-A |
c.1176G>A |
p.M392I |
Missense |
9/17 |
- |
1 |
10-73050750-C-T |
c.1178C>T |
p.A393V |
Missense |
9/17 |
- |
3 |
10-73050753-T-G |
c.1181T>G |
p.V394G |
Missense |
9/17 |
- |
2 |
10-73050755-G-A |
c.1183G>A |
p.G395R |
Missense |
9/17 |
- |
1 |
10-73050755-G-C |
c.1183G>C |
p.G395R |
Missense |
9/17 |
- |
1 |
10-73050757-G-A |
c.1185G>A |
p.G395= |
Synonymous |
9/17 |
- |
2 |
10-73050759-T-A |
c.1187T>A |
p.V396E |
Missense |
9/17 |
- |
1 |
10-73050759-T-G |
c.1187T>G |
p.V396G |
Missense |
9/17 |
- |
2 |
10-73050765-T-A |
c.1193T>A |
p.V398E |
Missense |
9/17 |
- |
1 |
10-73050765-T-C |
c.1193T>C |
p.V398A |
Missense |
9/17 |
- |
1 |
10-73050769-C-T |
c.1197C>T |
p.Y399= |
Synonymous |
9/17 |
- |
1 |
10-73050770-CG-GC |
c.1198_1199delinsGC |
p.R400A |
Missense |
9/17 |
- |
1 |
10-73050770-C-T |
c.1198C>T |
p.R400C |
Missense |
9/17 |
- |
3 |
10-73050771-G-A |
c.1199G>A |
p.R400H |
Missense |
9/17 |
- |
3 |
10-73050773-C-T |
c.1201C>T |
p.R401C |
Missense |
9/17 |
- |
1 |
10-73050774-G-A |
c.1202G>A |
p.R401H |
Missense |
9/17 |
- |
1 |
10-73050779-T-C |
c.1207T>C |
p.C403R |
Missense |
9/17 |
- |
1 |
10-73050781-C-G |
c.1209C>G |
p.C403W |
Missense |
9/17 |
- |
1 |
10-73050782-CG-GC |
c.1210_1211delinsGC |
p.R404A |
Missense |
9/17 |
- |
1 |
10-73050782-C-T |
c.1210C>T |
p.R404C |
Missense |
9/17 |
- |
1 |
10-73050792-A-G |
c.1220A>G |
p.D407G |
Missense |
9/17 |
- |
1 |
10-73050797-G-A |
c.1225G>A |
p.D409N |
Missense |
9/17 |
- |
2 |
10-73050797-G-T |
c.1225G>T |
p.D409Y |
Missense |
9/17 |
- |
1 |
10-73050802-C-G |
c.1230C>G |
p.I410M |
Missense |
9/17 |
- |
1 |
10-73050806-G-A |
c.1234G>A |
p.D412N |
Missense |
9/17 |
- |
5 |
10-73050818-G-C |
c.1246G>C |
p.A416P |
Missense |
9/17 |
- |
1 |
10-73050819-C-T |
c.1247C>T |
p.A416V |
Missense |
9/17 |
- |
2 |
10-73050821-C-A |
c.1249C>A |
p.L417M |
Missense |
9/17 |
- |
1 |
10-73050821-C-T |
c.1249C>T |
p.L417= |
Synonymous |
9/17 |
- |
2 |
10-73050823-G-A |
c.1251G>A |
p.L417= |
Synonymous |
9/17 |
- |
1 |
10-73050823-G-C |
c.1251G>C |
p.L417= |
Synonymous |
9/17 |
- |
1 |
10-73050823-G-T |
c.1251G>T |
p.L417= |
Synonymous |
9/17 |
- |
1 |
10-73050830-G-A |
c.1258G>A |
p.G420S |
Missense |
9/17 |
- |
4 |
10-73050830-G-C |
c.1258G>C |
p.G420R |
Missense |
9/17 |
- |
2 |
10-73050831-G-A |
c.1259G>A |
p.G420D |
Missense |
9/17 |
- |
1 |
10-73050831-G-T |
c.1259G>T |
p.G420V |
Missense |
9/17 |
- |
1 |
10-73050839-C-T |
c.1267C>T |
p.P423S |
Missense |
9/17 |
- |
7 |
10-73050841-C-A |
c.1269C>A |
p.P423= |
Synonymous |
9/17 |
- |
3 |
10-73050841-C-G |
c.1269C>G |
p.P423= |
Synonymous |
9/17 |
- |
2 |
10-73050841-C-T |
c.1269C>T |
p.P423= |
Synonymous |
9/17 |
- |
2 |
10-73050842-G-A |
c.1270G>A |
p.V424I |
Missense |
9/17 |
- |
1 |
10-73050846-A-G |
c.1274A>G |
p.N425S |
Missense |
9/17 |
- |
2 |
10-73050851-A-C |
c.1279A>C |
p.K427Q |
Missense |
9/17 |
- |
3 |
10-73050853-G-A |
c.1281G>A |
p.K427= |
Synonymous |
9/17 |
- |
4 |
10-73050853-G-C |
c.1281G>C |
p.K427N |
Missense |
9/17 |
- |
1 |
10-73050853-G-T |
c.1281G>T |
p.K427N |
Missense |
9/17 |
- |
1 |
10-73050854-AC-GA |
c.1282_1283delinsGA |
p.T428E |
Missense |
9/17 |
- |
1 |
10-73050854-A-G |
c.1282A>G |
p.T428A |
Missense |
9/17 |
- |
1 |
10-73050856-G-C |
c.1284G>C |
p.T428= |
Synonymous |
9/17 |
- |
1 |
10-73050857-G-A |
c.1285G>A |
p.A429T |
Missense |
9/17 |
- |
5 |
10-73050858-C-T |
c.1286C>T |
p.A429V |
Missense |
9/17 |
- |
4 |
10-73050859-A-C |
c.1287A>C |
p.A429= |
Synonymous |
9/17 |
- |
1 |
10-73050859-A-G |
c.1287A>G |
p.A429= |
Synonymous |
9/17 |
- |
1 |
10-73050859-A-T |
c.1287A>T |
p.A429= |
Synonymous |
9/17 |
- |
1 |
10-73050860-AG-CA |
c.1288_1289delinsCA |
p.R430Q |
Missense |
9/17 |
- |
1 |
10-73050860-AG-TA |
c.1288_1289delinsTA |
p.R430* |
Nonsense |
9/17 |
- |
1 |
10-73050862-G-A |
c.1290G>A |
p.R430= |
Synonymous |
9/17 |
- |
1 |
10-73050863-C-T |
c.1291C>T |
p.P431S |
Missense |
9/17 |
- |
3 |
10-73050864-C-A |
c.1292C>A |
p.P431H |
Missense |
9/17 |
- |
1 |
10-73050864-C-T |
c.1292C>T |
p.P431L |
Missense |
9/17 |
- |
2 |
10-73050983-C-T |
c.1294+117C>T |
- |
IntronicSNV |
- |
9/16 |
5 |
10-73051038-G-C |
c.1295-151G>C |
- |
IntronicSNV |
- |
9/16 |
6 |
10-73051193-C-T |
c.1299C>T |
p.N433= |
Synonymous |
10/17 |
- |
2 |
10-73051196-G-A |
c.1302G>A |
p.P434= |
Synonymous |
10/17 |
- |
1 |
10-73051201-T-C |
c.1307T>C |
p.L436P |
Missense |
10/17 |
- |
1 |
10-73051202-C-A |
c.1308C>A |
p.L436= |
Synonymous |
10/17 |
- |
1 |
10-73051202-C-G |
c.1308C>G |
p.L436= |
Synonymous |
10/17 |
- |
1 |
10-73051202-C-T |
c.1308C>T |
p.L436= |
Synonymous |
10/17 |
- |
1 |
10-73051207-A-G |
c.1313A>G |
p.H438R |
Missense |
10/17 |
- |
1 |
10-73051208-C-A |
c.1314C>A |
p.H438Q |
Missense |
10/17 |
- |
1 |
10-73051208-C-G |
c.1314C>G |
p.H438Q |
Missense |
10/17 |
- |
1 |
10-73051208-C-T |
c.1314C>T |
p.H438= |
Synonymous |
10/17 |
- |
1 |
10-73051213-C-T |
c.1319C>T |
p.S440F |
Missense |
10/17 |
- |
2 |
10-73051215-G-A |
c.1321G>A |
p.V441M |
Missense |
10/17 |
- |
1 |
10-73051218-C-T |
c.1324C>T |
p.P442S |
Missense |
10/17 |
- |
2 |
10-73051224-G-A |
c.1330G>A |
p.D444N |
Missense |
10/17 |
- |
1 |
10-73051224-G-T |
c.1330G>T |
p.D444Y |
Missense |
10/17 |
- |
1 |
10-73051226-C-A |
c.1332C>A |
p.D444E |
Missense |
10/17 |
- |
1 |
10-73051226-C-G |
c.1332C>G |
p.D444E |
Missense |
10/17 |
- |
1 |
10-73051231-C-G |
c.1337C>G |
p.T446R |
Missense |
10/17 |
- |
1 |
10-73051234-C-A |
c.1340C>A |
p.A447D |
Missense |
10/17 |
- |
1 |
10-73051234-C-T |
c.1340C>T |
p.A447V |
Missense |
10/17 |
- |
1 |
10-73051239-G-A |
c.1345G>A |
p.A449T |
Missense |
10/17 |
- |
5 |
10-73051241-C-T |
c.1347C>T |
p.A449= |
Synonymous |
10/17 |
- |
1 |
10-73051243-G-A |
c.1349G>A |
p.G450D |
Missense |
10/17 |
- |
2 |
10-73051243-G-T |
c.1349G>T |
p.G450V |
Missense |
10/17 |
- |
1 |
10-73051244-C-A |
c.1350C>A |
p.G450= |
Synonymous |
10/17 |
- |
1 |
10-73051244-C-G |
c.1350C>G |
p.G450= |
Synonymous |
10/17 |
- |
1 |
10-73051244-C-T |
c.1350C>T |
p.G450= |
Synonymous |
10/17 |
- |
1 |
10-73051251-C-T |
c.1357C>T |
p.R453C |
Missense |
10/17 |
- |
1 |
10-73051252-G-A |
c.1358G>A |
p.R453H |
Missense |
10/17 |
- |
1 |
10-73051254-G-A |
c.1360G>A |
p.G454R |
Missense |
10/17 |
- |
2 |
10-73051254-G-C |
c.1360G>C |
p.G454R |
Missense |
10/17 |
- |
2 |
10-73051255-G-A |
c.1361G>A |
p.G454E |
Missense |
10/17 |
- |
1 |
10-73051260-G-A |
c.1366G>A |
p.V456M |
Missense |
10/17 |
- |
1 |
10-73051260-G-T |
c.1366G>T |
p.V456L |
Missense |
10/17 |
- |
1 |
10-73051267-C-T |
c.1373C>T |
p.A458V |
Missense |
10/17 |
- |
1 |
10-73051273-A-G |
c.1379A>G |
p.Q460R |
Missense |
10/17 |
- |
1 |
10-73051284-G-A |
c.1390G>A |
p.D464N |
Missense |
10/17 |
- |
1 |
10-73051286-C-T |
c.1392C>T |
p.D464= |
Synonymous |
10/17 |
- |
1 |
10-73051291-T-A |
c.1397T>A |
p.I466N |
Missense |
10/17 |
- |
1 |
10-73051292-C-A |
c.1398C>A |
p.I466= |
Synonymous |
10/17 |
- |
1 |
10-73051292-C-T |
c.1398C>T |
p.I466= |
Synonymous |
10/17 |
- |
1 |
10-73051294-C-T |
c.1400C>T |
p.P467L |
Missense |
10/17 |
- |
1 |
10-73051295-C-A |
c.1401C>A |
p.P467= |
Synonymous |
10/17 |
- |
1 |
10-73051299-A-C |
c.1405A>C |
p.T469P |
Missense |
10/17 |
- |
1 |
10-73051300-C-T |
c.1406C>T |
p.T469I |
Missense |
10/17 |
- |
1 |
10-73051306-C-G |
c.1412C>G |
p.S471C |
Missense |
10/17 |
- |
3 |
10-73051306-C-T |
c.1412C>T |
p.S471F |
Missense |
10/17 |
- |
2 |
10-73051308-C-T |
c.1414C>T |
p.P472S |
Missense |
10/17 |
- |
4 |
10-73051309-C-T |
c.1415C>T |
p.P472L |
Missense |
10/17 |
- |
1 |
10-73051314-C-T |
c.1420C>T |
p.L474= |
Synonymous |
10/17 |
- |
1 |
10-73051316-G-A |
c.1422G>A |
p.L474= |
Synonymous |
10/17 |
- |
1 |
10-73051316-G-C |
c.1422G>C |
p.L474= |
Synonymous |
10/17 |
- |
1 |
10-73051316-G-T |
c.1422G>T |
p.L474= |
Synonymous |
10/17 |
- |
1 |
10-73051319-C-T |
c.1425C>T |
p.D475= |
Synonymous |
10/17 |
- |
1 |
10-73051320-C-T |
c.1426C>T |
p.P476S |
Missense |
10/17 |
- |
1 |
10-73051326-C-T |
c.1432C>T |
p.P478S |
Missense |
10/17 |
- |
4 |
10-73051327-C-A |
c.1433C>A |
p.P478H |
Missense |
10/17 |
- |
1 |
10-73051327-C-T |
c.1433C>T |
p.P478L |
Missense |
10/17 |
- |
2 |
10-73051330-G-A |
c.1436G>A |
p.S479N |
Missense |
10/17 |
- |
1 |
10-73051338-G-A |
c.1444G>A |
p.V482I |
Missense |
10/17 |
- |
1 |
10-73051341-A-T |
c.1447A>T |
p.K483* |
Nonsense |
10/17 |
- |
1 |
10-73051343-G-T |
c.1449G>T |
p.K483N |
Missense |
10/17 |
- |
1 |
10-73051358-GC-G |
c.1464del |
p.S488Rfs*114 |
Frameshift |
10/17 |
- |
1 |
10-73051360-C-A |
c.1466C>A |
p.T489N |
Missense |
10/17 |
- |
1 |
10-73051363-C-T |
c.1469C>T |
p.T490M |
Missense |
10/17 |
- |
4 |
10-73051364-G-A |
c.1470G>A |
p.T490= |
Synonymous |
10/17 |
- |
2 |
10-73051373-G-C |
c.1479G>C |
p.G493= |
Synonymous |
10/17 |
- |
1 |
10-73051378-G-C |
c.1484G>C |
p.G495A |
Missense |
10/17 |
- |
1 |
10-73051384-C-T |
c.1490C>T |
p.A497V |
Missense |
10/17 |
- |
1 |
10-73051386-G-C |
c.1492G>C |
p.D498H |
Missense |
10/17 |
- |
1 |
10-73051388-T-C |
c.1494T>C |
p.D498= |
Synonymous |
10/17 |
- |
12 |
10-73051389-G-A |
c.1495G>A |
p.G499R |
Missense |
10/17 |
- |
2 |
10-73051389-G-C |
c.1495G>C |
p.G499R |
Missense |
10/17 |
- |
2 |
10-73051390-G-A |
c.1496G>A |
p.G499E |
Missense |
10/17 |
- |
4 |
10-73051393-C-T |
c.1499C>T |
p.A500V |
Missense |
10/17 |
- |
1 |
10-73051397-C-T |
c.1503C>T |
p.D501= |
Synonymous |
10/17 |
- |
2 |
10-73051398-C-A |
c.1504C>A |
p.L502M |
Missense |
10/17 |
- |
1 |
10-73051401-C-T |
c.1507C>T |
p.L503= |
Synonymous |
10/17 |
- |
3 |
10-73051403-G-A |
c.1509G>A |
p.L503= |
Synonymous |
10/17 |
- |
2 |
10-73051403-G-C |
c.1509G>C |
p.L503= |
Synonymous |
10/17 |
- |
2 |
10-73051403-G-T |
c.1509G>T |
p.L503= |
Synonymous |
10/17 |
- |
2 |
10-73051404-GGG-TGT |
c.1510_1512delinsTGT |
p.G504C |
Missense |
10/17 |
- |
1 |
10-73051404-G-T |
c.1510G>T |
p.G504W |
Missense |
10/17 |
- |
4 |
10-73051407-G-A |
c.1513G>A |
p.V505I |
Missense |
10/17 |
- |
2 |
10-73051413-C-T |
c.1519C>T |
p.P507S |
Missense |
10/17 |
- |
2 |
10-73051416-C-T |
c.1522C>T |
p.P508S |
Missense |
10/17 |
- |
1 |
10-73051419-G-A |
c.1525G>A |
p.G509S |
Missense |
10/17 |
- |
1 |
10-73051420-G-A |
c.1526G>A |
p.G509D |
Missense |
10/17 |
- |
1 |
10-73051427-C-A |
c.1533C>A |
p.Y511* |
Nonsense |
10/17 |
- |
1 |
10-73051427-C-G |
c.1533C>G |
p.Y511* |
Nonsense |
10/17 |
- |
1 |
10-73051428-C-T |
c.1534C>T |
p.P512S |
Missense |
10/17 |
- |
1 |
10-73051434-G-A |
c.1540G>A |
p.D514N |
Missense |
10/17 |
- |
6 |
10-73051439-C-T |
c.1545C>T |
p.F515= |
Synonymous |
10/17 |
- |
9 |
10-73051440-G-A |
c.1546G>A |
p.A516T |
Missense |
10/17 |
- |
9 |
10-73051440-G-T |
c.1546G>T |
p.A516S |
Missense |
10/17 |
- |
2 |
10-73051442-C-A |
c.1548C>A |
p.A516= |
Synonymous |
10/17 |
- |
1 |
10-73051442-C-G |
c.1548C>G |
p.A516= |
Synonymous |
10/17 |
- |
1 |
10-73051442-C-T |
c.1548C>T |
p.A516= |
Synonymous |
10/17 |
- |
1 |
10-73051443-C-A |
c.1549C>A |
p.R517= |
Synonymous |
10/17 |
- |
1 |
10-73051443-C-T |
c.1549C>T |
p.R517W |
Missense |
10/17 |
- |
6 |
10-73051445-G-A |
c.1551G>A |
p.R517= |
Synonymous |
10/17 |
- |
2 |
10-73051445-G-C |
c.1551G>C |
p.R517= |
Synonymous |
10/17 |
- |
1 |
10-73051445-G-T |
c.1551G>T |
p.R517= |
Synonymous |
10/17 |
- |
1 |
10-73051444-G-A |
c.1550G>A |
p.R517Q |
Missense |
10/17 |
- |
1 |
10-73051446-G-C |
c.1552G>C |
p.D518H |
Missense |
10/17 |
- |
1 |
10-73051448-C-G |
c.1554C>G |
p.D518E |
Missense |
10/17 |
- |
1 |
10-73051452-C-A |
c.1558C>A |
p.H520N |
Missense |
10/17 |
- |
4 |
10-73051457-C-T |
c.1563C>T |
p.F521= |
Synonymous |
10/17 |
- |
5 |
10-73051465-T-A |
c.1571T>A |
p.L524Q |
Missense |
10/17 |
- |
1 |
10-73051464-C-T |
c.1570C>T |
p.L524= |
Synonymous |
10/17 |
- |
1 |
10-73051466-G-A |
c.1572G>A |
p.L524= |
Synonymous |
10/17 |
- |
3 |
10-73051466-G-C |
c.1572G>C |
p.L524= |
Synonymous |
10/17 |
- |
1 |
10-73051466-G-T |
c.1572G>T |
p.L524= |
Synonymous |
10/17 |
- |
1 |
10-73051467-CGC-GAG |
c.1573_1575delinsGAG |
p.R525E |
Missense |
10/17 |
- |
1 |
10-73051467-C-T |
c.1573C>T |
p.R525C |
Missense |
10/17 |
- |
3 |
10-73051468-G-A |
c.1574G>A |
p.R525H |
Missense |
10/17 |
- |
2 |
10-73051468-G-T |
c.1574G>T |
p.R525L |
Missense |
10/17 |
- |
1 |
10-73051472-C-T |
c.1578C>T |
p.S526= |
Synonymous |
10/17 |
- |
2 |
10-73051473-G-A |
c.1579G>A |
p.A527T |
Missense |
10/17 |
- |
1 |
10-73051473-G-T |
c.1579G>T |
p.A527S |
Missense |
10/17 |
- |
2 |
10-73051476-A-C |
c.1582A>C |
p.S528R |
Missense |
10/17 |
- |
1 |
10-73051478-C-A |
c.1584C>A |
p.S528R |
Missense |
10/17 |
- |
1 |
10-73051478-C-G |
c.1584C>G |
p.S528R |
Missense |
10/17 |
- |
1 |
10-73051478-C-T |
c.1584C>T |
p.S528= |
Synonymous |
10/17 |
- |
1 |
10-73051481-C-A |
c.1587C>A |
p.L529= |
Synonymous |
10/17 |
- |
1 |
10-73051481-C-G |
c.1587C>G |
p.L529= |
Synonymous |
10/17 |
- |
1 |
10-73051481-C-T |
c.1587C>T |
p.L529= |
Synonymous |
10/17 |
- |
1 |
10-73051482-G-A |
c.1588G>A |
p.G530S |
Missense |
10/17 |
- |
5 |
10-73051487-C-T |
c.1593C>T |
p.S531= |
Synonymous |
10/17 |
- |
1 |
10-73051488-C-T |
c.1594C>T |
p.Q532* |
Nonsense |
10/17 |
- |
6 |
10-73051491-C-T |
c.1597C>T |
p.Q533* |
Nonsense |
10/17 |
- |
1 |
10-73051493-G-C |
c.1599G>C |
p.Q533H |
Missense |
10/17 |
- |
1 |
10-73051493-G-T |
c.1599G>T |
p.Q533H |
Missense |
10/17 |
- |
1 |
10-73051496-C-A |
c.1602C>A |
p.L534= |
Synonymous |
10/17 |
- |
1 |
10-73051496-C-G |
c.1602C>G |
p.L534= |
Synonymous |
10/17 |
- |
1 |
10-73051496-C-T |
c.1602C>T |
p.L534= |
Synonymous |
10/17 |
- |
1 |
10-73051501-G-T |
c.1607G>T |
p.G536V |
Missense |
10/17 |
- |
1 |
10-73051504-T-C |
c.1610T>C |
p.L537P |
Missense |
10/17 |
- |
1 |
10-73051503-C-T |
c.1609C>T |
p.L537= |
Synonymous |
10/17 |
- |
1 |
10-73051505-G-A |
c.1611G>A |
p.L537= |
Synonymous |
10/17 |
- |
1 |
10-73051505-G-C |
c.1611G>C |
p.L537= |
Synonymous |
10/17 |
- |
1 |
10-73051505-G-T |
c.1611G>T |
p.L537= |
Synonymous |
10/17 |
- |
1 |
10-73051506-C-T |
c.1612C>T |
p.P538S |
Missense |
10/17 |
- |
2 |
10-73051515-C-A |
c.1621C>A |
p.P541T |
Missense |
10/17 |
- |
1 |
10-73051519-G-A |
c.1625G>A |
p.G542E |
Missense |
10/17 |
- |
2 |
10-73051527-G-A |
c.1633G>A |
p.V545I |
Missense |
10/17 |
- |
3 |
10-73051532-C-T |
c.1638C>T |
p.S546= |
Synonymous |
10/17 |
- |
2 |
10-73051533-G-A |
c.1639G>A |
p.G547S |
Missense |
10/17 |
- |
2 |
10-73051534-G-A |
c.1640G>A |
p.G547D |
Missense |
10/17 |
- |
1 |
10-73051537-C-T |
c.1643C>T |
p.T548I |
Missense |
10/17 |
- |
2 |
10-73051542-G-T |
c.1648G>T |
p.G550C |
Missense |
10/17 |
- |
1 |
10-73051546-G-T |
c.1652G>T |
p.C551F |
Missense |
10/17 |
- |
1 |
10-73051547-C-T |
c.1653C>T |
p.C551= |
Synonymous |
10/17 |
- |
2 |
10-73051557-AGG-CAT |
c.1663_1665delinsCAT |
p.R555H |
Missense |
10/17 |
- |
1 |
10-73051567-T-C |
c.1673T>C |
p.I558T |
Missense |
10/17 |
- |
1 |
10-73051568-C-A |
c.1674C>A |
p.I558= |
Synonymous |
10/17 |
- |
1 |
10-73051568-C-G |
c.1674C>G |
p.I558M |
Missense |
10/17 |
- |
2 |
10-73051568-C-T |
c.1674C>T |
p.I558= |
Synonymous |
10/17 |
- |
1 |
10-73051569-C-T |
c.1675C>T |
p.P559S |
Missense |
10/17 |
- |
1 |
10-73051571-C-G |
c.1677C>G |
p.P559= |
Synonymous |
10/17 |
- |
1 |
10-73051572-G-A |
c.1678G>A |
p.G560S |
Missense |
10/17 |
- |
2 |
10-73051576-CA-TG |
c.1682_1683inv |
p.T561M |
Missense |
10/17 |
- |
1 |
10-73052132-T-A |
c.1685-92T>A |
- |
IntronicSNV |
- |
10/16 |
1 |
10-73052132-T-C |
c.1685-92T>C |
- |
IntronicSNV |
- |
10/16 |
1 |
10-73052132-T-G |
c.1685-92T>G |
- |
IntronicSNV |
- |
10/16 |
1 |
10-73052210-C-T |
c.1685-14C>T |
- |
IntronicSNV |
- |
10/16 |
1 |
10-73052230-G-C |
c.1691G>C |
p.S564T |
Missense |
11/17 |
- |
1 |
10-73052245-A-G |
c.1706A>G |
p.N569S |
Missense |
11/17 |
- |
1 |
10-73052249-A-G |
c.1710A>G |
p.G570= |
Synonymous |
11/17 |
- |
1 |
10-73052261-G-A |
c.1722G>A |
p.Q574= |
Synonymous |
11/17 |
- |
2 |
10-73052263-G-A |
c.1724G>A |
p.G575D |
Missense |
11/17 |
- |
2 |
10-73052263-G-T |
c.1724G>T |
p.G575V |
Missense |
11/17 |
- |
1 |
10-73052267-G-A |
c.1728G>A |
p.K576= |
Synonymous |
11/17 |
- |
1 |
10-73052268-T-C |
c.1729T>C |
p.F577L |
Missense |
11/17 |
- |
1 |
10-73052270-C-A |
c.1731C>A |
p.F577L |
Missense |
11/17 |
- |
1 |
10-73052270-C-G |
c.1731C>G |
p.F577L |
Missense |
11/17 |
- |
1 |
10-73052271-T-C |
c.1732T>C |
p.Y578H |
Missense |
11/17 |
- |
2 |
10-73052273-C-T |
c.1734C>T |
p.Y578= |
Synonymous |
11/17 |
- |
3 |
10-73052274-G-A |
c.1735G>A |
p.E579K |
Missense |
11/17 |
- |
2 |
10-73052283-C-T |
c.1744C>T |
p.L582= |
Synonymous |
11/17 |
- |
1 |
10-73052287-T-C |
c.1748T>C |
p.L583P |
Missense |
11/17 |
- |
1 |
10-73052294-C-T |
c.1755C>T |
p.N585= |
Synonymous |
11/17 |
- |
1 |
10-73052308-C-A |
c.1769C>A |
p.T590N |
Missense |
11/17 |
- |
1 |
10-73052448-T-C |
c.1772+137T>C |
- |
IntronicSNV |
- |
11/16 |
1 |
10-73052632-G-A |
c.1772+321G>A |
- |
IntronicSNV |
- |
11/16 |
1 |
10-73052918-A-T |
c.1773-244A>T |
- |
IntronicSNV |
- |
11/16 |
2 |
10-73053119-C-G |
c.1773-43C>G |
- |
IntronicSNV |
- |
11/16 |
1 |
10-73053119-C-T |
c.1773-43C>T |
- |
IntronicSNV |
- |
11/16 |
1 |
10-73053163-C-T |
c.1774C>T |
p.P592S |
Missense |
12/17 |
- |
1 |
10-73053167-T-C |
c.1778T>C |
p.L593P |
Missense |
12/17 |
- |
4 |
10-73053168-T-A |
c.1779T>A |
p.L593= |
Synonymous |
12/17 |
- |
1 |
10-73053168-T-C |
c.1779T>C |
p.L593= |
Synonymous |
12/17 |
- |
1 |
10-73053168-T-G |
c.1779T>G |
p.L593= |
Synonymous |
12/17 |
- |
1 |
10-73053170-C-T |
c.1781C>T |
p.S594L |
Missense |
12/17 |
- |
1 |
10-73053172-G-A |
c.1783G>A |
p.E595K |
Missense |
12/17 |
- |
2 |
10-73053174-A-G |
c.1785A>G |
p.E595= |
Synonymous |
12/17 |
- |
1 |
10-73053175-GGG-TGT |
c.1786_1788delinsTGT |
p.G596C |
Missense |
12/17 |
- |
1 |
10-73053183-G-A |
c.1794G>A |
p.Q598= |
Synonymous |
12/17 |
- |
1 |
10-73053188-T-A |
c.1799T>A |
p.V600E |
Missense |
12/17 |
- |
2 |
10-73053193-A-G |
c.1804A>G |
p.S602G |
Missense |
12/17 |
- |
2 |
10-73053196-C-T |
c.1807C>T |
p.P603S |
Missense |
12/17 |
- |
1 |
10-73053200-C-T |
c.1811C>T |
p.S604L |
Missense |
12/17 |
- |
5 |
10-73053212-G-A |
c.1823G>A |
p.G608E |
Missense |
12/17 |
- |
1 |
10-73053215-C-T |
c.1826C>T |
p.P609L |
Missense |
12/17 |
- |
1 |
10-73053216-C-G |
c.1827C>G |
p.P609= |
Synonymous |
12/17 |
- |
1 |
10-73053217-A-T |
c.1828A>T |
p.T610S |
Missense |
12/17 |
- |
6 |
10-73053226-C-A |
c.1837C>A |
p.L613M |
Missense |
12/17 |
- |
1 |
10-73053226-C-T |
c.1837C>T |
p.L613= |
Synonymous |
12/17 |
- |
1 |
10-73053228-G-A |
c.1839G>A |
p.L613= |
Synonymous |
12/17 |
- |
3 |
10-73053228-G-C |
c.1839G>C |
p.L613= |
Synonymous |
12/17 |
- |
1 |
10-73053228-G-T |
c.1839G>T |
p.L613= |
Synonymous |
12/17 |
- |
1 |
10-73053235-C-T |
c.1846C>T |
p.R616C |
Missense |
12/17 |
- |
1 |
10-73053236-G-A |
c.1847G>A |
p.R616H |
Missense |
12/17 |
- |
1 |
10-73053238-C-T |
c.1849C>T |
p.P617S |
Missense |
12/17 |
- |
1 |
10-73053239-C-T |
c.1850C>T |
p.P617L |
Missense |
12/17 |
- |
1 |
10-73053247-C-A |
c.1858C>A |
p.L620I |
Missense |
12/17 |
- |
1 |
10-73053251-C-T |
c.1862C>T |
p.T621I |
Missense |
12/17 |
- |
1 |
10-73053266-C-T |
c.1877C>T |
p.A626V |
Missense |
12/17 |
- |
2 |
10-73053267-C-A |
c.1878C>A |
p.A626= |
Synonymous |
12/17 |
- |
1 |
10-73053267-C-G |
c.1878C>G |
p.A626= |
Synonymous |
12/17 |
- |
1 |
10-73053267-C-T |
c.1878C>T |
p.A626= |
Synonymous |
12/17 |
- |
2 |
10-73053268-G-A |
c.1879G>A |
p.E627K |
Missense |
12/17 |
- |
7 |
10-73053271-G-A |
c.1882G>A |
p.V628I |
Missense |
12/17 |
- |
1 |
10-73053271-GTC-ATG |
c.1882_1884delinsATG |
p.V628M |
Missense |
12/17 |
- |
1 |
10-73053279-C-T |
c.1890C>T |
p.A630= |
Synonymous |
12/17 |
- |
2 |
10-73053280-C-G |
c.1891C>G |
p.R631G |
Missense |
12/17 |
- |
1 |
10-73053280-C-T |
c.1891C>T |
p.R631C |
Missense |
12/17 |
- |
2 |
10-73053281-G-A |
c.1892G>A |
p.R631H |
Missense |
12/17 |
- |
1 |
10-73053285-C-G |
c.1896C>G |
p.D632E |
Missense |
12/17 |
- |
1 |
10-73053285-C-T |
c.1896C>T |
p.D632= |
Synonymous |
12/17 |
- |
2 |
10-73053287-G-T |
c.1898G>T |
p.W633L |
Missense |
12/17 |
- |
1 |
10-73053292-T-C |
c.1903T>C |
p.F635L |
Missense |
12/17 |
- |
2 |
10-73053294-T-A |
c.1905T>A |
p.F635L |
Missense |
12/17 |
- |
2 |
10-73053294-T-G |
c.1905T>G |
p.F635L |
Missense |
12/17 |
- |
2 |
10-73053303-G-A |
c.1914G>A |
p.K638= |
Synonymous |
12/17 |
- |
2 |
10-73053303-G-C |
c.1914G>C |
p.K638N |
Missense |
12/17 |
- |
2 |
10-73053303-G-T |
c.1914G>T |
p.K638N |
Missense |
12/17 |
- |
1 |
10-73053310-G-A |
c.1921G>A |
p.A641T |
Missense |
12/17 |
- |
1 |
10-73053315-C-G |
c.1926C>G |
p.H642Q |
Missense |
12/17 |
- |
1 |
10-73053315-C-T |
c.1926C>T |
p.H642= |
Synonymous |
12/17 |
- |
1 |
10-73053316-C-A |
c.1927C>A |
p.Q643K |
Missense |
12/17 |
- |
1 |
10-73053316-C-T |
c.1927C>T |
p.Q643* |
Nonsense |
12/17 |
- |
1 |
10-73053319-G-C |
c.1930G>C |
p.G644R |
Missense |
12/17 |
- |
1 |
10-73053321-C-T |
c.1932C>T |
p.G644= |
Synonymous |
12/17 |
- |
1 |
10-73053322-C-T |
c.1933C>T |
p.H645Y |
Missense |
12/17 |
- |
1 |
10-73053325-T-C |
c.1936T>C |
p.W646R |
Missense |
12/17 |
- |
1 |
10-73053458-A-G |
c.1943A>G |
p.E648G |
Missense |
13/17 |
- |
1 |
10-73053460-G-A |
c.1945G>A |
p.V649M |
Missense |
13/17 |
- |
2 |
10-73053474-T-C |
c.1959T>C |
p.D653= |
Synonymous |
13/17 |
- |
1 |
10-73053477-G-A |
c.1962G>A |
p.E654= |
Synonymous |
13/17 |
- |
1 |
10-73053498-C-A |
c.1983C>A |
p.C661* |
Nonsense |
13/17 |
- |
1 |
10-73053527-A-G |
c.2012A>G |
p.H671R |
Missense |
13/17 |
- |
1 |
10-73053535-C-T |
c.2020C>T |
p.L674= |
Synonymous |
13/17 |
- |
2 |
10-73053537-G-A |
c.2022G>A |
p.L674= |
Synonymous |
13/17 |
- |
1 |
10-73053537-G-C |
c.2022G>C |
p.L674= |
Synonymous |
13/17 |
- |
1 |
10-73053537-G-T |
c.2022G>T |
p.L674= |
Synonymous |
13/17 |
- |
1 |
10-73053541-C-T |
c.2026C>T |
p.Q676* |
Nonsense |
13/17 |
- |
1 |
10-73053548-G-A |
c.2033G>A |
p.G678D |
Missense |
13/17 |
- |
1 |
10-73053553-T-A |
c.2038T>A |
p.Y680N |
Missense |
13/17 |
- |
1 |
10-73053556-G-C |
c.2041G>C |
p.V681L |
Missense |
13/17 |
- |
1 |
10-73053556-G-T |
c.2041G>T |
p.V681L |
Missense |
13/17 |
- |
1 |
10-73053561-C-T |
c.2046C>T |
p.F682= |
Synonymous |
13/17 |
- |
1 |
10-73053562-A-G |
c.2047A>G |
p.T683A |
Missense |
13/17 |
- |
1 |
10-73053563-CG-TC |
c.2048_2049delinsTC |
p.T683I |
Missense |
13/17 |
- |
1 |
10-73053568-G-A |
c.2053G>A |
p.E685K |
Missense |
13/17 |
- |
1 |
10-73053571-TC-AA |
c.2056_2057delinsAA |
p.S686N |
Missense |
13/17 |
- |
1 |
10-73053578-C-G |
c.2063C>G |
p.S688C |
Missense |
13/17 |
- |
4 |
10-73053579-C-T |
c.2064C>T |
p.S688= |
Synonymous |
13/17 |
- |
3 |
10-73053580-C-T |
c.2065C>T |
p.R689C |
Missense |
13/17 |
- |
2 |
10-73053581-G-A |
c.2066G>A |
p.R689H |
Missense |
13/17 |
- |
1 |
10-73053584-C-T |
c.2069C>T |
p.S690L |
Missense |
13/17 |
- |
2 |
10-73053595-C-T |
c.2080C>T |
p.R694W |
Missense |
13/17 |
- |
1 |
10-73053603-G-C |
c.2088G>C |
p.Q696H |
Missense |
13/17 |
- |
1 |
10-73053603-G-T |
c.2088G>T |
p.Q696H |
Missense |
13/17 |
- |
1 |
10-73053604-C-T |
c.2089C>T |
p.L697= |
Synonymous |
13/17 |
- |
1 |
10-73053606-G-A |
c.2091G>A |
p.L697= |
Synonymous |
13/17 |
- |
1 |
10-73053606-G-C |
c.2091G>C |
p.L697= |
Synonymous |
13/17 |
- |
1 |
10-73053606-G-T |
c.2091G>T |
p.L697= |
Synonymous |
13/17 |
- |
1 |
10-73053607-G-C |
c.2092G>C |
p.A698P |
Missense |
13/17 |
- |
1 |
10-73053609-C-G |
c.2094C>G |
p.A698= |
Synonymous |
13/17 |
- |
1 |
10-73053612-C-A |
c.2097C>A |
p.V699= |
Synonymous |
13/17 |
- |
1 |
10-73053612-C-G |
c.2097C>G |
p.V699= |
Synonymous |
13/17 |
- |
1 |
10-73053612-C-T |
c.2097C>T |
p.V699= |
Synonymous |
13/17 |
- |
1 |
10-73053615-C-T |
c.2100C>T |
p.F700= |
Synonymous |
13/17 |
- |
2 |
10-73053616-G-A |
c.2101G>A |
p.A701T |
Missense |
13/17 |
- |
4 |
10-73053616-G-T |
c.2101G>T |
p.A701S |
Missense |
13/17 |
- |
1 |
10-73053617-C-T |
c.2102C>T |
p.A701V |
Missense |
13/17 |
- |
3 |
10-73053622-G-T |
c.2107G>T |
p.A703S |
Missense |
13/17 |
- |
1 |
10-73053622-GC-G |
c.2110del |
p.L704Sfs*19 |
Frameshift |
13/17 |
- |
2 |
10-73053634-T-C |
c.2119T>C |
p.S707P |
Missense |
13/17 |
- |
1 |
10-73053636-C-T |
c.2121C>T |
p.S707= |
Synonymous |
13/17 |
- |
1 |
10-73053656-T-C |
c.2141T>C |
p.V714A |
Missense |
13/17 |
- |
1 |
10-73053664-C-T |
c.2149C>T |
p.L717= |
Synonymous |
13/17 |
- |
1 |
10-73053666-G-A |
c.2151G>A |
p.L717= |
Synonymous |
13/17 |
- |
1 |
10-73053666-G-C |
c.2151G>C |
p.L717= |
Synonymous |
13/17 |
- |
1 |
10-73053666-G-T |
c.2151G>T |
p.L717= |
Synonymous |
13/17 |
- |
1 |
10-73053667-G-T |
c.2152G>T |
p.E718* |
Nonsense |
13/17 |
- |
1 |
10-73053675-G-A |
c.2160G>A |
p.T720= |
Synonymous |
13/17 |
- |
1 |
10-73053679-G-A |
c.2164G>A |
p.V722I |
Missense |
13/17 |
- |
1 |
10-73053681-A-C |
c.2166A>C |
p.V722= |
Synonymous |
13/17 |
- |
1 |
10-73053681-A-G |
c.2166A>G |
p.V722= |
Synonymous |
13/17 |
- |
1 |
10-73053681-A-T |
c.2166A>T |
p.V722= |
Synonymous |
13/17 |
- |
1 |
10-73053825-A-G |
c.2175+135A>G |
- |
IntronicSNV |
- |
13/16 |
3 |
10-73054305-T-C |
c.2175+615T>C |
- |
IntronicSNV |
- |
13/16 |
1 |
10-73055568-G-A |
c.2176G>A |
p.E726K |
Missense |
14/17 |
- |
3 |
10-73055576-G-A |
c.2184G>A |
p.L728= |
Synonymous |
14/17 |
- |
3 |
10-73055579-G-A |
c.2187G>A |
p.E729= |
Synonymous |
14/17 |
- |
2 |
10-73055580-C-G |
c.2188C>G |
p.L730V |
Missense |
14/17 |
- |
1 |
10-73055586-C-T |
c.2194C>T |
p.R732W |
Missense |
14/17 |
- |
1 |
10-73055587-G-A |
c.2195G>A |
p.R732Q |
Missense |
14/17 |
- |
1 |
10-73055597-C-A |
c.2205C>A |
p.G735= |
Synonymous |
14/17 |
- |
1 |
10-73055597-C-G |
c.2205C>G |
p.G735= |
Synonymous |
14/17 |
- |
1 |
10-73055597-C-T |
c.2205C>T |
p.G735= |
Synonymous |
14/17 |
- |
1 |
10-73055598-G-A |
c.2206G>A |
p.G736R |
Missense |
14/17 |
- |
1 |
10-73055598-G-C |
c.2206G>C |
p.G736R |
Missense |
14/17 |
- |
1 |
10-73055603-C-T |
c.2211C>T |
p.Y737= |
Synonymous |
14/17 |
- |
1 |
10-73055604-T-G |
c.2212T>G |
p.L738V |
Missense |
14/17 |
- |
2 |
10-73055607-G-A |
c.2215G>A |
p.V739M |
Missense |
14/17 |
- |
5 |
10-73055609-G-A |
c.2217G>A |
p.V739= |
Synonymous |
14/17 |
- |
2 |
10-73055609-G-C |
c.2217G>C |
p.V739= |
Synonymous |
14/17 |
- |
2 |
10-73055609-G-T |
c.2217G>T |
p.V739= |
Synonymous |
14/17 |
- |
4 |
10-73055616-C-T |
c.2224C>T |
p.P742S |
Missense |
14/17 |
- |
1 |
10-73055618-G-A |
c.2226G>A |
p.P742= |
Synonymous |
14/17 |
- |
4 |
10-73055618-G-T |
c.2226G>T |
p.P742= |
Synonymous |
14/17 |
- |
4 |
10-73055623-C-T |
c.2231C>T |
p.P744L |
Missense |
14/17 |
- |
2 |
10-73055624-G-A |
c.2232G>A |
p.P744= |
Synonymous |
14/17 |
- |
1 |
10-73055624-G-C |
c.2232G>C |
p.P744= |
Synonymous |
14/17 |
- |
1 |
10-73055624-G-T |
c.2232G>T |
p.P744= |
Synonymous |
14/17 |
- |
3 |
10-73055630-G-A |
c.2238G>A |
p.M746I |
Missense |
14/17 |
- |
1 |
10-73055632-T-C |
c.2240T>C |
p.F747S |
Missense |
14/17 |
- |
1 |
10-73055641-G-A |
c.2249G>A |
p.S750N |
Missense |
14/17 |
- |
1 |
10-73055654-G-T |
c.2262G>T |
p.L754= |
Synonymous |
14/17 |
- |
1 |
10-73055655-C-T |
c.2263C>T |
p.R755C |
Missense |
14/17 |
- |
2 |
10-73055656-G-A |
c.2264G>A |
p.R755H |
Missense |
14/17 |
- |
1 |
10-73055662-C-T |
c.2270C>T |
p.S757F |
Missense |
14/17 |
- |
3 |
10-73055663-C-T |
c.2271C>T |
p.S757= |
Synonymous |
14/17 |
- |
3 |
10-73055666-C-A |
c.2274C>A |
p.L758= |
Synonymous |
14/17 |
- |
1 |
10-73055666-C-G |
c.2274C>G |
p.L758= |
Synonymous |
14/17 |
- |
1 |
10-73055666-C-T |
c.2274C>T |
p.L758= |
Synonymous |
14/17 |
- |
2 |
10-73055675-C-T |
c.2283C>T |
p.L761= |
Synonymous |
14/17 |
- |
1 |
10-73055676-C-G |
c.2284C>G |
p.P762A |
Missense |
14/17 |
- |
1 |
10-73055683-C-A |
c.2291C>A |
p.A764D |
Missense |
14/17 |
- |
1 |
10-73055692-G-A |
c.2300G>A |
p.R767K |
Missense |
14/17 |
- |
3 |
10-73055691-AG-A |
c.2301del |
p.S768Afs*103 |
Frameshift |
14/17 |
- |
1 |
10-73055708-C-CT |
c.2316_2317insT |
p.K773* |
Nonsense |
14/17 |
- |
1 |
10-73055710-A-T |
c.2318A>T |
p.K773I |
Missense |
14/17 |
- |
1 |
10-73055712-T-C |
c.2320T>C |
p.Y774H |
Missense |
14/17 |
- |
1 |
10-73055744-G-A |
c.2325+27G>A |
- |
IntronicSNV |
- |
14/16 |
1 |
10-73055849-T-C |
c.2325+132T>C |
- |
IntronicSNV |
- |
14/16 |
3 |
10-73055965-A-C |
c.2325+248A>C |
- |
IntronicSNV |
- |
14/16 |
1 |
10-73056072-G-A |
c.2326-263G>A |
- |
IntronicSNV |
- |
14/16 |
1 |
10-73056072-G-C |
c.2326-263G>C |
- |
IntronicSNV |
- |
14/16 |
1 |
10-73056277-C-T |
c.2326-58C>T |
- |
IntronicSNV |
- |
14/16 |
1 |
10-73056338-A-G |
c.2329A>G |
p.I777V |
Missense |
15/17 |
- |
1 |
10-73056340-C-T |
c.2331C>T |
p.I777= |
Synonymous |
15/17 |
- |
3 |
10-73056339-TC-T |
c.2334del |
p.F779Sfs*92 |
Frameshift |
15/17 |
- |
2 |
10-73056345-T-G |
c.2336T>G |
p.F779C |
Missense |
15/17 |
- |
1 |
10-73056346-C-A |
c.2337C>A |
p.F779L |
Missense |
15/17 |
- |
1 |
10-73056351-A-G |
c.2342A>G |
p.H781R |
Missense |
15/17 |
- |
1 |
10-73056370-G-A |
c.2361G>A |
p.Q787= |
Synonymous |
15/17 |
- |
1 |
10-73056370-G-C |
c.2361G>C |
p.Q787H |
Missense |
15/17 |
- |
1 |
10-73056374-G-A |
c.2365G>A |
p.A789T |
Missense |
15/17 |
- |
1 |
10-73056378-T-C |
c.2369T>C |
p.L790P |
Missense |
15/17 |
- |
1 |
10-73056383-T-A |
c.2374T>A |
p.C792S |
Missense |
15/17 |
- |
2 |
10-73056384-G-C |
c.2375G>C |
p.C792S |
Missense |
15/17 |
- |
4 |
10-73056385-C-T |
c.2376C>T |
p.C792= |
Synonymous |
15/17 |
- |
2 |
10-73056387-C-G |
c.2378C>G |
p.T793S |
Missense |
15/17 |
- |
2 |
10-73056394-C-T |
c.2385C>T |
p.T795= |
Synonymous |
15/17 |
- |
1 |
10-73056395-C-T |
c.2386C>T |
p.L796= |
Synonymous |
15/17 |
- |
1 |
10-73056397-G-A |
c.2388G>A |
p.L796= |
Synonymous |
15/17 |
- |
1 |
10-73056397-G-C |
c.2388G>C |
p.L796= |
Synonymous |
15/17 |
- |
1 |
10-73056397-G-T |
c.2388G>T |
p.L796= |
Synonymous |
15/17 |
- |
1 |
10-73056398-G-T |
c.2389G>T |
p.E797* |
Nonsense |
15/17 |
- |
1 |
10-73056408-G-T |
c.2399G>T |
p.S800I |
Missense |
15/17 |
- |
2 |
10-73056410-T-C |
c.2401T>C |
p.L801= |
Synonymous |
15/17 |
- |
1 |
10-73056412-G-A |
c.2403G>A |
p.L801= |
Synonymous |
15/17 |
- |
1 |
10-73056412-G-C |
c.2403G>C |
p.L801F |
Missense |
15/17 |
- |
1 |
10-73056413-G-A |
c.2404G>A |
p.A802T |
Missense |
15/17 |
- |
3 |
10-73056419-CA-C |
c.2410del |
p.T804Qfs*67 |
Frameshift |
15/17 |
- |
1 |
10-73056422-G-T |
c.2413G>T |
p.E805* |
Nonsense |
15/17 |
- |
1 |
10-73056420-CAG-C |
c.2414_2415del |
p.E805Afs*74 |
Frameshift |
15/17 |
- |
2 |
10-73056424-AG-A |
c.2415del |
p.E805Dfs*66 |
Frameshift |
15/17 |
- |
2 |
10-73056425-C-T |
c.2416C>T |
p.L806F |
Missense |
15/17 |
- |
1 |
10-73056436-G-GATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCAC |
c.2429_2430insATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCACAT |
p.C811Ffs*77 |
Frameshift |
15/17 |
- |
1 |
10-73056439-C-G |
c.2430C>G |
p.I810M |
Missense |
15/17 |
- |
1 |
10-73056442-C-T |
c.2433C>T |
p.C811= |
Synonymous |
15/17 |
- |
1 |
10-73056443-G-A |
c.2434G>A |
p.V812M |
Missense |
15/17 |
- |
2 |
10-73056446-C-T |
c.2437C>T |
p.R813W |
Missense |
15/17 |
- |
2 |
10-73056452-AGTGGAAGGGGAGGGC-A |
c.2443_2457del |
p.V815_G819del |
InFrameDeletion |
15/17 |
- |
1 |
10-73056453-T-C |
c.2444T>C |
p.V815A |
Missense |
15/17 |
- |
1 |
10-73056458-G-A |
c.2449G>A |
p.G817R |
Missense |
15/17 |
- |
1 |
10-73056458-G-C |
c.2449G>C |
p.G817R |
Missense |
15/17 |
- |
1 |
10-73056460-G-C |
c.2451G>C |
p.G817= |
Synonymous |
15/17 |
- |
3 |
10-73056460-G-GT |
c.2451_2452insT |
p.E818* |
Nonsense |
15/17 |
- |
1 |
10-73056461-G-A |
c.2452G>A |
p.E818K |
Missense |
15/17 |
- |
1 |
10-73056462-A-G |
c.2453A>G |
p.E818G |
Missense |
15/17 |
- |
1 |
10-73056464-GGGC-G |
c.2455_2457del |
p.G819del |
InFrameDeletion |
15/17 |
- |
1 |
10-73056462-AGGGCCAGATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCG-A |
c.2460_2490+19del |
- |
SpliceDonorDeletion |
15/17 |
15/16 |
1 |
10-73056469-G-C |
c.2460G>C |
p.Q820H |
Missense |
15/17 |
- |
2 |
10-73056469-G-T |
c.2460G>T |
p.Q820H |
Missense |
15/17 |
- |
1 |
10-73056472-A-G |
c.2463A>G |
p.I821M |
Missense |
15/17 |
- |
3 |
10-73056476-C-A |
c.2467C>A |
p.Q823K |
Missense |
15/17 |
- |
1 |
10-73056476-C-T |
c.2467C>T |
p.Q823* |
Nonsense |
15/17 |
- |
2 |
10-73056479-C-T |
c.2470C>T |
p.L824= |
Synonymous |
15/17 |
- |
1 |
10-73056481-G-A |
c.2472G>A |
p.L824= |
Synonymous |
15/17 |
- |
1 |
10-73056481-G-C |
c.2472G>C |
p.L824= |
Synonymous |
15/17 |
- |
1 |
10-73056481-G-T |
c.2472G>T |
p.L824= |
Synonymous |
15/17 |
- |
1 |
10-73056469-GATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCAC-G |
c.2475_2490+34del |
- |
SpliceDonorDeletion |
15/17 |
15/16 |
1 |
10-73056484-T-C |
c.2475T>C |
p.H825= |
Synonymous |
15/17 |
- |
5 |
10-73056485-TACCACTCTGGCAGAG-T |
c.2476_2490del |
p.T827_T831del |
SpliceDonorDeletion |
15/17 |
- |
1 |
10-73056490-T-A |
c.2481T>A |
p.T827= |
Synonymous |
15/17 |
- |
3 |
10-73056490-T-G |
c.2481T>G |
p.T827= |
Synonymous |
15/17 |
- |
3 |
10-73056496-A-C |
c.2487A>C |
p.A829= |
Synonymous |
15/17 |
- |
1 |
10-73056496-A-G |
c.2487A>G |
p.A829= |
Synonymous |
15/17 |
- |
5 |
10-73056496-A-T |
c.2487A>T |
p.A829= |
Synonymous |
15/17 |
- |
1 |
10-73056499-G-A |
c.2490G>A |
p.E830= |
Synonymous |
15/17 |
- |
2 |
10-73056534-C-T |
c.2490+35C>T |
- |
IntronicSNV |
- |
15/16 |
2 |
10-73056540-A-G |
c.2490+41A>G |
- |
IntronicSNV |
- |
15/16 |
5 |
10-73056540-A-T |
c.2490+41A>T |
- |
IntronicSNV |
- |
15/16 |
3 |
10-73056496-A-AGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCACGCTGGCG |
c.2490+60_2490+61insTCGGGGCCACATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAG |
- |
Frameshift |
- |
15/16 |
1 |
10-73056560-G-T |
c.2490+61G>T |
- |
IntronicSNV |
- |
15/16 |
1 |
10-73056561-G-C |
c.2490+62G>C |
- |
IntronicSNV |
- |
15/16 |
1 |
10-73056562-T-G |
c.2490+63T>G |
- |
IntronicSNV |
- |
15/16 |
1 |
10-73056566-G-C |
c.2490+67G>C |
- |
IntronicSNV |
- |
15/16 |
1 |
10-73056569-G-C |
c.2490+70G>C |
- |
IntronicSNV |
- |
15/16 |
1 |
10-73056590-G-A |
c.2490+91G>A |
- |
IntronicSNV |
- |
15/16 |
1 |
10-73056596-G-A |
c.2490+97G>A |
- |
IntronicSNV |
- |
15/16 |
1 |
10-73056612-T-G |
c.2490+113T>G |
- |
IntronicSNV |
- |
15/16 |
1 |
10-73057360-A-T |
c.2491-306A>T |
- |
IntronicSNV |
- |
15/16 |
1 |
10-73057676-G-A |
c.2501G>A |
p.G834D |
Missense |
16/17 |
- |
1 |
10-73057679-C-T |
c.2504C>T |
p.S835F |
Missense |
16/17 |
- |
1 |
10-73057680-C-A |
c.2505C>A |
p.S835= |
Synonymous |
16/17 |
- |
1 |
10-73057680-C-G |
c.2505C>G |
p.S835= |
Synonymous |
16/17 |
- |
1 |
10-73057680-C-T |
c.2505C>T |
p.S835= |
Synonymous |
16/17 |
- |
1 |
10-73057681-C-T |
c.2506C>T |
p.L836= |
Synonymous |
16/17 |
- |
2 |
10-73057683-G-A |
c.2508G>A |
p.L836= |
Synonymous |
16/17 |
- |
1 |
10-73057683-G-C |
c.2508G>C |
p.L836= |
Synonymous |
16/17 |
- |
1 |
10-73057683-G-T |
c.2508G>T |
p.L836= |
Synonymous |
16/17 |
- |
1 |
10-73057696-TC-AA |
c.2521_2522delinsAA |
p.S841N |
Missense |
16/17 |
- |
1 |
10-73057704-T-C |
c.2529T>C |
p.P843= |
Synonymous |
16/17 |
- |
1 |
10-73057706-G-A |
c.2531G>A |
p.G844D |
Missense |
16/17 |
- |
2 |
10-73057715-T-G |
c.2540T>G |
p.V847G |
Missense |
16/17 |
- |
1 |
10-73057724-A-G |
c.2549A>G |
p.Q850R |
Missense |
16/17 |
- |
1 |
10-73057726-C-T |
c.2551C>T |
p.L851= |
Synonymous |
16/17 |
- |
1 |
10-73057728-G-A |
c.2553G>A |
p.L851= |
Synonymous |
16/17 |
- |
1 |
10-73057728-G-C |
c.2553G>C |
p.L851= |
Synonymous |
16/17 |
- |
2 |
10-73057728-G-T |
c.2553G>T |
p.L851= |
Synonymous |
16/17 |
- |
3 |
10-73057749-C-T |
c.2574C>T |
p.I858= |
Synonymous |
16/17 |
- |
1 |
10-73057750-C-T |
c.2575C>T |
p.P859S |
Missense |
16/17 |
- |
1 |
10-73057755-G-A |
c.2580G>A |
p.L860= |
Synonymous |
16/17 |
- |
6 |
10-73057755-G-C |
c.2580G>C |
p.L860= |
Synonymous |
16/17 |
- |
7 |
10-73057757-C-T |
c.2582C>T |
p.S861F |
Missense |
16/17 |
- |
5 |
10-73057761-C-T |
c.2586C>T |
p.I862= |
Synonymous |
16/17 |
- |
3 |
10-73057762-C-T |
c.2587C>T |
p.R863C |
Missense |
16/17 |
- |
4 |
10-73057763-G-A |
c.2588G>A |
p.R863H |
Missense |
16/17 |
- |
4 |
10-73057766-A-G |
c.2591A>G |
p.Q864R |
Missense |
16/17 |
- |
1 |
10-73057778-A-G |
c.2603A>G |
p.N868S |
Missense |
16/17 |
- |
3 |
10-73057786-G-T |
c.2611G>T |
p.D871Y |
Missense |
16/17 |
- |
1 |
10-73057790-C-A |
c.2615C>A |
p.A872D |
Missense |
16/17 |
- |
1 |
10-73057790-C-T |
c.2615C>T |
p.A872V |
Missense |
16/17 |
- |
1 |
10-73057792-C-T |
c.2617C>T |
p.P873S |
Missense |
16/17 |
- |
1 |
10-73057793-C-A |
c.2618C>A |
p.P873H |
Missense |
16/17 |
- |
1 |
10-73057789-GC-G |
c.2619del |
p.N874Tfs*10 |
Frameshift |
16/17 |
- |
1 |
10-73057801-C-T |
c.2626C>T |
p.R876W |
Missense |
16/17 |
- |
3 |
10-73057803-G-A |
c.2628G>A |
p.R876= |
Synonymous |
16/17 |
- |
2 |
10-73057804-G-A |
c.2629G>A |
p.G877S |
Missense |
16/17 |
- |
1 |
10-73057812-C-G |
c.2637C>G |
p.D879E |
Missense |
16/17 |
- |
1 |
10-73057816-C-T |
c.2641C>T |
p.R881W |
Missense |
16/17 |
- |
1 |
10-73057817-G-A |
c.2642G>A |
p.R881Q |
Missense |
16/17 |
- |
2 |
10-73057817-GG-AT |
c.2642_2643delinsAT |
p.R881H |
Missense |
16/17 |
- |
1 |
10-73057818-G-A |
c.2643G>A |
p.R881= |
Synonymous |
16/17 |
- |
2 |
10-73057821-G-A |
c.2646G>A |
p.M882I |
Missense |
16/17 |
- |
2 |
10-73057821-G-C |
c.2646G>C |
p.M882I |
Missense |
16/17 |
- |
1 |
10-73057821-G-T |
c.2646G>T |
p.M882I |
Missense |
16/17 |
- |
1 |
10-73057825-G-A |
c.2650G>A |
p.A884T |
Missense |
16/17 |
- |
1 |
10-73057827-A-C |
c.2652A>C |
p.A884= |
Synonymous |
16/17 |
- |
1 |
10-73057827-A-G |
c.2652A>G |
p.A884= |
Synonymous |
16/17 |
- |
1 |
10-73057827-A-T |
c.2652A>T |
p.A884= |
Synonymous |
16/17 |
- |
1 |
10-73057828-C-A |
c.2653C>A |
p.Q885K |
Missense |
16/17 |
- |
1 |
10-73057842-G-A |
c.2667G>A |
p.M889I |
Missense |
16/17 |
- |
1 |
10-73057846-C-T |
c.2671C>T |
p.R891W |
Missense |
16/17 |
- |
3 |
10-73058372-T-A |
c.2673-497T>A |
- |
IntronicSNV |
- |
16/16 |
1 |
10-73058469-A-G |
c.2673-400A>G |
- |
IntronicSNV |
- |
16/16 |
1 |
10-73058558-A-G |
c.2673-311A>G |
- |
IntronicSNV |
- |
16/16 |
1 |
10-73058873-CT-TC |
c.2677_2678delinsTC |
p.L893S |
Missense |
17/17 |
- |
1 |
10-73058886-C-T |
c.2690C>T |
p.A897V |
Missense |
17/17 |
- |
1 |
10-73058894-G-A |
c.2698G>A |
p.A900T |
Missense |
17/17 |
- |
1 |
10-73058899-C-T |
c.2703C>T |
p.S901= |
Synonymous |
17/17 |
- |
2 |
10-73058900-C-T |
c.2704C>T |
p.P902S |
Missense |
17/17 |
- |
1 |
10-73058904-C-T |
c.2708C>T |
p.T903M |
Missense |
17/17 |
- |
5 |
10-73058914-C-A |
c.2718C>A |
p.I906= |
Synonymous |
17/17 |
- |
1 |
10-73058914-C-T |
c.2718C>T |
p.I906= |
Synonymous |
17/17 |
- |
4 |
10-73058915-C-T |
c.2719C>T |
p.L907= |
Synonymous |
17/17 |
- |
1 |
10-73058917-G-A |
c.2721G>A |
p.L907= |
Synonymous |
17/17 |
- |
1 |
10-73058917-G-C |
c.2721G>C |
p.L907= |
Synonymous |
17/17 |
- |
1 |
10-73058917-G-T |
c.2721G>T |
p.L907= |
Synonymous |
17/17 |
- |
1 |
10-73058922-T-A |
c.2726T>A |
p.L909H |
Missense |
17/17 |
- |
2 |
10-73058926-G-A |
c.2730G>A |
p.W910* |
Nonsense |
17/17 |
- |
3 |
10-73058927-G-A |
c.2731G>A |
p.E911K |
Missense |
17/17 |
- |
3 |
10-73058927-G-T |
c.2731G>T |
p.E911* |
Nonsense |
17/17 |
- |
1 |
10-73058934-T-A |
c.2738T>A |
p.L913Q |
Missense |
17/17 |
- |
1 |
10-73058935-G-A |
c.2739G>A |
p.L913= |
Synonymous |
17/17 |
- |
1 |
10-73058945-G-A |
c.2749G>A |
p.D917N |
Missense |
17/17 |
- |
1 |
10-73058945-G-C |
c.2749G>C |
p.D917H |
Missense |
17/17 |
- |
1 |
10-73058945-G-T |
c.2749G>T |
p.D917Y |
Missense |
17/17 |
- |
1 |
10-73058950-G-A |
c.2754G>A |
p.G918= |
Synonymous |
17/17 |
- |
1 |
10-73058950-G-C |
c.2754G>C |
p.G918= |
Synonymous |
17/17 |
- |
1 |
10-73058950-G-T |
c.2754G>T |
p.G918= |
Synonymous |
17/17 |
- |
1 |
10-73058967-C-T |
c.2771C>T |
p.A924V |
Missense |
17/17 |
- |
2 |
10-73058968-G-A |
c.2772G>A |
p.A924= |
Synonymous |
17/17 |
- |
2 |
10-73058980-G-C |
c.2784G>C |
p.E928D |
Missense |
17/17 |
- |
1 |
10-73058980-G-T |
c.2784G>T |
p.E928D |
Missense |
17/17 |
- |
1 |
10-73058981-G-A |
c.2785G>A |
p.E929K |
Missense |
17/17 |
- |
5 |
10-73058986-G-A |
c.2790G>A |
p.M930I |
Missense |
17/17 |
- |
6 |
10-73058986-G-C |
c.2790G>C |
p.M930I |
Missense |
17/17 |
- |
2 |
10-73058986-G-T |
c.2790G>T |
p.M930I |
Missense |
17/17 |
- |
2 |
10-73058988-G-A |
c.2792G>A |
p.G931D |
Missense |
17/17 |
- |
1 |
10-73058996-G-A |
c.2800G>A |
p.E934K |
Missense |
17/17 |
- |
1 |
10-73059004-G-T |
c.2808G>T |
p.L936= |
Synonymous |
17/17 |
- |
1 |
10-73059008-G-A |
c.2812G>A |
p.A938T |
Missense |
17/17 |
- |
2 |
10-73059019-C-A |
c.2823C>A |
p.T941= |
Synonymous |
17/17 |
- |
2 |
10-73059019-C-G |
c.2823C>G |
p.T941= |
Synonymous |
17/17 |
- |
2 |
10-73059019-C-T |
c.2823C>T |
p.T941= |
Synonymous |
17/17 |
- |
3 |
10-73059022-C-A |
c.2826C>A |
p.D942E |
Missense |
17/17 |
- |
1 |
10-73059022-C-G |
c.2826C>G |
p.D942E |
Missense |
17/17 |
- |
1 |
10-73059022-C-T |
c.2826C>T |
p.D942= |
Synonymous |
17/17 |
- |
1 |
10-73059027-GA-G |
c.2831del |
p.D944Afs*54 |
Frameshift |
17/17 |
- |
1 |
10-73059104-G-A |
c.*70G>A |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73059358-C-G |
c.*324C>G |
- |
3-UTRSNV |
17/17 |
- |
3 |
10-73059389-A-C |
c.*355A>C |
- |
3-UTRSNV |
17/17 |
- |
3 |
10-73059389-A-G |
c.*355A>G |
- |
3-UTRSNV |
17/17 |
- |
3 |
10-73059827-C-G |
c.*793C>G |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73059827-C-T |
c.*793C>T |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73060065-C-T |
c.*1031C>T |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73060277-G-A |
c.*1243G>A |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73061502-A-G |
c.*2468A>G |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73061708-A-G |
c.*2674A>G |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73062048-G-A |
c.*3014G>A |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73062048-G-T |
c.*3014G>T |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73062149-A-C |
c.*3115A>C |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73062149-A-G |
c.*3115A>G |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73062149-A-T |
c.*3115A>T |
- |
3-UTRSNV |
17/17 |
- |
1 |
10-73062488-G-A |
c.*3454G>A |
- |
3-UTRSNV |
17/17 |
- |
1 |