10-129894983-G-C |
c.*2471C>G |
- |
3-UTRSNV |
15/15 |
- |
2 |
10-129894998-G-A |
c.*2456C>T |
- |
3-UTRSNV |
15/15 |
- |
2 |
10-129895361-C-G |
c.*2093G>C |
- |
3-UTRSNV |
15/15 |
- |
2 |
10-129895452-G-C |
c.*2002C>G |
- |
3-UTRSNV |
15/15 |
- |
1 |
10-129895483-G-T |
c.*1971C>A |
- |
3-UTRSNV |
15/15 |
- |
1 |
10-129896232-A-G |
c.*1222T>C |
- |
3-UTRSNV |
15/15 |
- |
5 |
10-129896503-G-A |
c.*951C>T |
- |
3-UTRSNV |
15/15 |
- |
1 |
10-129897314-C-G |
c.*140G>C |
- |
3-UTRSNV |
15/15 |
- |
2 |
10-129897466-A-G |
c.9759T>C |
p.S3253= |
Synonymous |
15/15 |
- |
1 |
10-129897471-C-T |
c.9754G>A |
p.D3252N |
Missense |
15/15 |
- |
1 |
10-129897474-T-A |
c.9751A>T |
p.R3251W |
Missense |
15/15 |
- |
1 |
10-129897478-A-C |
c.9747T>G |
p.S3249R |
Missense |
15/15 |
- |
5 |
10-129897479-C-A |
c.9746G>T |
p.S3249I |
Missense |
15/15 |
- |
1 |
10-129897482-C-G |
c.9743G>C |
p.R3248T |
Missense |
15/15 |
- |
2 |
10-129897486-T-C |
c.9739A>G |
p.T3247A |
Missense |
15/15 |
- |
4 |
10-129897488-C-T |
c.9737G>A |
p.R3246K |
Missense |
15/15 |
- |
1 |
10-129897489-T-G |
c.9736A>C |
p.R3246= |
Synonymous |
15/15 |
- |
1 |
10-129897508-A-G |
c.9717T>C |
p.N3239= |
Synonymous |
15/15 |
- |
2 |
10-129897516-C-A |
c.9709G>T |
p.E3237* |
Nonsense |
15/15 |
- |
1 |
10-129897516-C-T |
c.9709G>A |
p.E3237K |
Missense |
15/15 |
- |
1 |
10-129897565-C-T |
c.9706-46G>A |
- |
IntronicSNV |
- |
14/14 |
3 |
10-129897791-A-G |
c.9706-272T>C |
- |
IntronicSNV |
- |
14/14 |
1 |
10-129898890-T-C |
c.9705+632A>G |
- |
IntronicSNV |
- |
14/14 |
1 |
10-129899523-T-C |
c.9704A>G |
p.K3235R |
Missense |
14/15 |
- |
1 |
10-129899530-G-A |
c.9697C>T |
p.P3233S |
Missense |
14/15 |
- |
1 |
10-129899543-C-T |
c.9684G>A |
p.R3228= |
Synonymous |
14/15 |
- |
10 |
10-129899545-T-G |
c.9682A>C |
p.R3228= |
Synonymous |
14/15 |
- |
1 |
10-129899553-C-T |
c.9674G>A |
p.S3225N |
Missense |
14/15 |
- |
1 |
10-129899557-G-A |
c.9670C>T |
p.R3224W |
Missense |
14/15 |
- |
3 |
10-129899557-G-C |
c.9670C>G |
p.R3224G |
Missense |
14/15 |
- |
1 |
10-129899558-C-A |
c.9669G>T |
p.T3223= |
Synonymous |
14/15 |
- |
1 |
10-129899558-C-G |
c.9669G>C |
p.T3223= |
Synonymous |
14/15 |
- |
2 |
10-129899558-C-T |
c.9669G>A |
p.T3223= |
Synonymous |
14/15 |
- |
3 |
10-129899559-G-A |
c.9668C>T |
p.T3223M |
Missense |
14/15 |
- |
1 |
10-129899562-ACT-A |
c.9663_9664del |
p.R3221Sfs*16 |
Frameshift |
14/15 |
- |
1 |
10-129899567-C-A |
c.9660G>T |
p.Q3220H |
Missense |
14/15 |
- |
1 |
10-129899567-C-G |
c.9660G>C |
p.Q3220H |
Missense |
14/15 |
- |
1 |
10-129899569-GCA-G |
c.9656_9657del |
p.V3219Afs*18 |
Frameshift |
14/15 |
- |
1 |
10-129899576-T-C |
c.9651A>G |
p.K3217= |
Synonymous |
14/15 |
- |
2 |
10-129899578-T-C |
c.9649A>G |
p.K3217E |
Missense |
14/15 |
- |
40 |
10-129899579-G-A |
c.9648C>T |
p.S3216= |
Synonymous |
14/15 |
- |
1 |
10-129899597-TG-GT |
c.9629_9630delinsAC |
p.A3210D |
Missense |
14/15 |
- |
1 |
10-129899598-G-A |
c.9629C>T |
p.A3210V |
Missense |
14/15 |
- |
1 |
10-129899598-G-C |
c.9629C>G |
p.A3210G |
Missense |
14/15 |
- |
1 |
10-129899598-GC-TT |
c.9628_9629delinsAA |
p.A3210K |
Missense |
14/15 |
- |
1 |
10-129899602-G-A |
c.9625C>T |
p.P3209S |
Missense |
14/15 |
- |
5 |
10-129899611-TTG-T |
c.9614_9615del |
p.T3205Kfs*32 |
Frameshift |
14/15 |
- |
2 |
10-129899618-T-A |
c.9609A>T |
p.R3203S |
Missense |
14/15 |
- |
1 |
10-129899619-C-T |
c.9608G>A |
p.R3203K |
Missense |
14/15 |
- |
1 |
10-129899624-T-C |
c.9603A>G |
p.R3201= |
Synonymous |
14/15 |
- |
1 |
10-129899626-T-G |
c.9601A>C |
p.R3201= |
Synonymous |
14/15 |
- |
1 |
10-129899627-C-A |
c.9600G>T |
p.L3200= |
Synonymous |
14/15 |
- |
2 |
10-129899627-C-G |
c.9600G>C |
p.L3200= |
Synonymous |
14/15 |
- |
2 |
10-129899627-C-T |
c.9600G>A |
p.L3200= |
Synonymous |
14/15 |
- |
2 |
10-129899629-G-A |
c.9598C>T |
p.L3200= |
Synonymous |
14/15 |
- |
8 |
10-129899629-G-C |
c.9598C>G |
p.L3200V |
Missense |
14/15 |
- |
2 |
10-129899630-G-C |
c.9597C>G |
p.C3199W |
Missense |
14/15 |
- |
1 |
10-129899634-A-T |
c.9593T>A |
p.M3198K |
Missense |
14/15 |
- |
1 |
10-129899649-C-A |
c.9578G>T |
p.G3193V |
Missense |
14/15 |
- |
1 |
10-129899669-C-T |
c.9558G>A |
p.Q3186= |
Synonymous |
14/15 |
- |
2 |
10-129899683-G-A |
c.9544C>T |
p.L3182F |
Missense |
14/15 |
- |
2 |
10-129899687-C-A |
c.9540G>T |
p.K3180N |
Missense |
14/15 |
- |
1 |
10-129899687-C-G |
c.9540G>C |
p.K3180N |
Missense |
14/15 |
- |
1 |
10-129899690-C-T |
c.9537G>A |
p.A3179= |
Synonymous |
14/15 |
- |
1 |
10-129899691-G-A |
c.9536C>T |
p.A3179V |
Missense |
14/15 |
- |
8 |
10-129899707-C-A |
c.9520G>T |
p.G3174* |
Nonsense |
14/15 |
- |
1 |
10-129899708-G-A |
c.9519C>T |
p.S3173= |
Synonymous |
14/15 |
- |
3 |
10-129899709-C-T |
c.9518G>A |
p.S3173N |
Missense |
14/15 |
- |
3 |
10-129899711-C-A |
c.9516G>T |
p.E3172D |
Missense |
14/15 |
- |
2 |
10-129899711-C-G |
c.9516G>C |
p.E3172D |
Missense |
14/15 |
- |
1 |
10-129899716-C-A |
c.9511G>T |
p.E3171* |
Nonsense |
14/15 |
- |
2 |
10-129899731-G-T |
c.9496C>A |
p.Q3166K |
Missense |
14/15 |
- |
1 |
10-129899734-A-C |
c.9493T>G |
p.S3165A |
Missense |
14/15 |
- |
1 |
10-129899738-C-T |
c.9489G>A |
p.E3163= |
Synonymous |
14/15 |
- |
1 |
10-129899748-C-A |
c.9479G>T |
p.R3160I |
Missense |
14/15 |
- |
1 |
10-129899752-C-A |
c.9475G>T |
p.A3159S |
Missense |
14/15 |
- |
1 |
10-129899763-CA-GT |
c.9463_9464delinsAC |
p.C3155T |
Missense |
14/15 |
- |
1 |
10-129899776-C-T |
c.9451G>A |
p.E3151K |
Missense |
14/15 |
- |
1 |
10-129899777-A-C |
c.9450T>G |
p.T3150= |
Synonymous |
14/15 |
- |
2 |
10-129899777-A-G |
c.9450T>C |
p.T3150= |
Synonymous |
14/15 |
- |
2 |
10-129899777-A-T |
c.9450T>A |
p.T3150= |
Synonymous |
14/15 |
- |
2 |
10-129899778-G-C |
c.9449C>G |
p.T3150S |
Missense |
14/15 |
- |
26 |
10-129899779-T-A |
c.9448A>T |
p.T3150S |
Missense |
14/15 |
- |
1 |
10-129899793-G-A |
c.9434C>T |
p.P3145L |
Missense |
14/15 |
- |
5 |
10-129899793-G-T |
c.9434C>A |
p.P3145H |
Missense |
14/15 |
- |
1 |
10-129899796-A-G |
c.9431T>C |
p.I3144T |
Missense |
14/15 |
- |
1 |
10-129899806-G-A |
c.9421C>T |
p.R3141W |
Missense |
14/15 |
- |
1 |
10-129899808-G-C |
c.9419C>G |
p.A3140G |
Missense |
14/15 |
- |
2 |
10-129899811-C-G |
c.9416G>C |
p.G3139A |
Missense |
14/15 |
- |
1 |
10-129899811-C-T |
c.9416G>A |
p.G3139E |
Missense |
14/15 |
- |
1 |
10-129899812-C-G |
c.9415G>C |
p.G3139R |
Missense |
14/15 |
- |
1 |
10-129899812-C-T |
c.9415G>A |
p.G3139R |
Missense |
14/15 |
- |
5 |
10-129899827-G-A |
c.9400C>T |
p.Q3134* |
Nonsense |
14/15 |
- |
1 |
10-129899831-G-A |
c.9396C>T |
p.D3132= |
Synonymous |
14/15 |
- |
1 |
10-129899841-G-T |
c.9386C>A |
p.P3129Q |
Missense |
14/15 |
- |
1 |
10-129899843-G-A |
c.9384C>T |
p.S3128= |
Synonymous |
14/15 |
- |
2 |
10-129899847-G-T |
c.9380C>A |
p.T3127N |
Missense |
14/15 |
- |
1 |
10-129899854-T-A |
c.9373A>T |
p.M3125L |
Missense |
14/15 |
- |
1 |
10-129899854-T-C |
c.9373A>G |
p.M3125V |
Missense |
14/15 |
- |
1 |
10-129899854-T-G |
c.9373A>C |
p.M3125L |
Missense |
14/15 |
- |
1 |
10-129899871-C-G |
c.9356G>C |
p.R3119T |
Missense |
14/15 |
- |
1 |
10-129899875-T-G |
c.9352A>C |
p.N3118H |
Missense |
14/15 |
- |
1 |
10-129899881-C-T |
c.9346G>A |
p.E3116K |
Missense |
14/15 |
- |
1 |
10-129899883-TA-T |
c.9344del |
p.I3115Kfs*3 |
Frameshift |
14/15 |
- |
1 |
10-129899886-C-A |
c.9341G>T |
p.R3114I |
Missense |
14/15 |
- |
4 |
10-129899888-T-C |
c.9339A>G |
p.E3113= |
Synonymous |
14/15 |
- |
1 |
10-129899890-C-T |
c.9337G>A |
p.E3113K |
Missense |
14/15 |
- |
1 |
10-129899908-C-G |
c.9319G>C |
p.E3107Q |
Missense |
14/15 |
- |
1 |
10-129899921-T-C |
c.9306A>G |
p.E3102= |
Synonymous |
14/15 |
- |
2 |
10-129899922-T-C |
c.9305A>G |
p.E3102G |
Missense |
14/15 |
- |
12 |
10-129899925-G-A |
c.9302C>T |
p.A3101V |
Missense |
14/15 |
- |
1 |
10-129899930-A-G |
c.9297T>C |
p.T3099= |
Synonymous |
14/15 |
- |
1 |
10-129899938-T-C |
c.9289A>G |
p.N3097D |
Missense |
14/15 |
- |
1 |
10-129899938-T-G |
c.9289A>C |
p.N3097H |
Missense |
14/15 |
- |
1 |
10-129899944-G-A |
c.9283C>T |
p.R3095C |
Missense |
14/15 |
- |
1 |
10-129899945-TCT-ATG |
c.9280_9282delinsCAT |
p.R3094H |
Missense |
14/15 |
- |
1 |
10-129899946-C-G |
c.9281G>C |
p.R3094T |
Missense |
14/15 |
- |
1 |
10-129899951-G-A |
c.9276C>T |
p.R3092= |
Synonymous |
14/15 |
- |
3 |
10-129899951-G-C |
c.9276C>G |
p.R3092= |
Synonymous |
14/15 |
- |
2 |
10-129899951-G-T |
c.9276C>A |
p.R3092= |
Synonymous |
14/15 |
- |
2 |
10-129899952-C-A |
c.9275G>T |
p.R3092L |
Missense |
14/15 |
- |
3 |
10-129899952-C-G |
c.9275G>C |
p.R3092P |
Missense |
14/15 |
- |
1 |
10-129899953-G-A |
c.9274C>T |
p.R3092C |
Missense |
14/15 |
- |
2 |
10-129899953-G-T |
c.9274C>A |
p.R3092S |
Missense |
14/15 |
- |
1 |
10-129899958-G-A |
c.9269C>T |
p.S3090F |
Missense |
14/15 |
- |
1 |
10-129899958-G-T |
c.9269C>A |
p.S3090Y |
Missense |
14/15 |
- |
2 |
10-129899964-CC-TT |
c.9262_9263delinsAA |
p.G3088K |
SpliceAcceptorBlockSubstitution |
14/15 |
- |
1 |
10-129900851-C-G |
c.9253G>C |
p.E3085Q |
Missense |
13/15 |
- |
1 |
10-129900851-C-T |
c.9253G>A |
p.E3085K |
Missense |
13/15 |
- |
1 |
10-129900854-G-A |
c.9250C>T |
p.P3084S |
Missense |
13/15 |
- |
3 |
10-129900855-G-A |
c.9249C>T |
p.V3083= |
Synonymous |
13/15 |
- |
1 |
10-129900858-C-A |
c.9246G>T |
p.S3082= |
Synonymous |
13/15 |
- |
2 |
10-129900858-C-G |
c.9246G>C |
p.S3082= |
Synonymous |
13/15 |
- |
2 |
10-129900858-C-T |
c.9246G>A |
p.S3082= |
Synonymous |
13/15 |
- |
10 |
10-129900859-G-A |
c.9245C>T |
p.S3082L |
Missense |
13/15 |
- |
2 |
10-129900859-G-T |
c.9245C>A |
p.S3082* |
Nonsense |
13/15 |
- |
1 |
10-129900860-A-G |
c.9244T>C |
p.S3082P |
Missense |
13/15 |
- |
1 |
10-129900863-C-G |
c.9241G>C |
p.D3081H |
Missense |
13/15 |
- |
4 |
10-129900871-T-C |
c.9233A>G |
p.K3078R |
Missense |
13/15 |
- |
2 |
10-129900873-G-C |
c.9231C>G |
p.H3077Q |
Missense |
13/15 |
- |
1 |
10-129900873-G-T |
c.9231C>A |
p.H3077Q |
Missense |
13/15 |
- |
1 |
10-129900877-T-C |
c.9227A>G |
p.E3076G |
Missense |
13/15 |
- |
1 |
10-129900879-C-T |
c.9225G>A |
p.E3075= |
Synonymous |
13/15 |
- |
3 |
10-129900881-C-A |
c.9223G>T |
p.E3075* |
Nonsense |
13/15 |
- |
1 |
10-129900887-TG-T |
c.9216del |
p.N3073Tfs*33 |
Frameshift |
13/15 |
- |
1 |
10-129900889-G-A |
c.9215C>T |
p.T3072I |
Missense |
13/15 |
- |
3 |
10-129900890-T-G |
c.9214A>C |
p.T3072P |
Missense |
13/15 |
- |
1 |
10-129900900-G-A |
c.9204C>T |
p.N3068= |
Synonymous |
13/15 |
- |
1 |
10-129900902-T-C |
c.9202A>G |
p.N3068D |
Missense |
13/15 |
- |
1 |
10-129900903-G-A |
c.9201C>T |
p.S3067= |
Synonymous |
13/15 |
- |
1 |
10-129900917-C-T |
c.9187G>A |
p.E3063K |
Missense |
13/15 |
- |
2 |
10-129900918-C-A |
c.9186G>T |
p.A3062= |
Synonymous |
13/15 |
- |
1 |
10-129900918-C-G |
c.9186G>C |
p.A3062= |
Synonymous |
13/15 |
- |
2 |
10-129900918-C-T |
c.9186G>A |
p.A3062= |
Synonymous |
13/15 |
- |
2 |
10-129900920-C-T |
c.9184G>A |
p.A3062T |
Missense |
13/15 |
- |
1 |
10-129900936-TG-GT |
c.9167_9168delinsAC |
p.A3056D |
Missense |
13/15 |
- |
1 |
10-129900946-CT-TG |
c.9157_9158delinsCA |
p.R3053Q |
Missense |
13/15 |
- |
1 |
10-129900948-C-A |
c.9156G>T |
p.L3052F |
Missense |
13/15 |
- |
2 |
10-129900948-C-G |
c.9156G>C |
p.L3052F |
Missense |
13/15 |
- |
4 |
10-129900952-C-T |
c.9152G>A |
p.S3051N |
Missense |
13/15 |
- |
2 |
10-129900960-C-G |
c.9144G>C |
p.M3048I |
Missense |
13/15 |
- |
1 |
10-129900968-C-A |
c.9136G>T |
p.V3046F |
Missense |
13/15 |
- |
3 |
10-129900971-C-T |
c.9133G>A |
p.V3045M |
Missense |
13/15 |
- |
1 |
10-129900972-G-A |
c.9132C>T |
p.P3044= |
Synonymous |
13/15 |
- |
1 |
10-129900972-G-C |
c.9132C>G |
p.P3044= |
Synonymous |
13/15 |
- |
1 |
10-129900974-G-A |
c.9130C>T |
p.P3044S |
Missense |
13/15 |
- |
1 |
10-129900977-C-T |
c.9127G>A |
p.E3043K |
Missense |
13/15 |
- |
1 |
10-129900995-C-T |
c.9109G>A |
p.A3037T |
Missense |
13/15 |
- |
1 |
10-129901004-C-T |
c.9100G>A |
p.A3034T |
Missense |
13/15 |
- |
1 |
10-129901008-C-A |
c.9096G>T |
p.R3032S |
Missense |
13/15 |
- |
1 |
10-129901008-C-G |
c.9096G>C |
p.R3032S |
Missense |
13/15 |
- |
1 |
10-129901014-C-T |
c.9090G>A |
p.K3030= |
Synonymous |
13/15 |
- |
1 |
10-129901025-C-T |
c.9079G>A |
p.A3027T |
Missense |
13/15 |
- |
1 |
10-129901033-TC-T |
c.9070del |
p.E3024Sfs*25 |
Frameshift |
13/15 |
- |
2 |
10-129901039-A-C |
c.9065T>G |
p.V3022G |
Missense |
13/15 |
- |
1 |
10-129901041-A-G |
c.9063T>C |
p.I3021= |
Synonymous |
13/15 |
- |
2 |
10-129901041-A-T |
c.9063T>A |
p.I3021= |
Synonymous |
13/15 |
- |
1 |
10-129901063-CA-GT |
c.9040_9041delinsAC |
p.C3014T |
Missense |
13/15 |
- |
1 |
10-129901064-A-T |
c.9040T>A |
p.C3014S |
Missense |
13/15 |
- |
1 |
10-129901065-G-A |
c.9039C>T |
p.R3013= |
Synonymous |
13/15 |
- |
1 |
10-129901065-G-C |
c.9039C>G |
p.R3013= |
Synonymous |
13/15 |
- |
1 |
10-129901065-G-T |
c.9039C>A |
p.R3013= |
Synonymous |
13/15 |
- |
1 |
10-129901066-C-A |
c.9038G>T |
p.R3013L |
Missense |
13/15 |
- |
9 |
10-129901066-C-T |
c.9038G>A |
p.R3013H |
Missense |
13/15 |
- |
3 |
10-129901067-G-A |
c.9037C>T |
p.R3013C |
Missense |
13/15 |
- |
1 |
10-129901067-G-C |
c.9037C>G |
p.R3013G |
Missense |
13/15 |
- |
1 |
10-129901071-C-T |
c.9033G>A |
p.R3011= |
Synonymous |
13/15 |
- |
3 |
10-129901073-T-G |
c.9031A>C |
p.R3011= |
Synonymous |
13/15 |
- |
2 |
10-129901081-C-T |
c.9023G>A |
p.G3008E |
Missense |
13/15 |
- |
2 |
10-129901083-C-T |
c.9021G>A |
p.T3007= |
Synonymous |
13/15 |
- |
1 |
10-129901088-C-T |
c.9016G>A |
p.V3006I |
Missense |
13/15 |
- |
1 |
10-129901089-G-A |
c.9015C>T |
p.S3005= |
Synonymous |
13/15 |
- |
1 |
10-129901089-G-C |
c.9015C>G |
p.S3005R |
Missense |
13/15 |
- |
1 |
10-129901089-G-T |
c.9015C>A |
p.S3005R |
Missense |
13/15 |
- |
1 |
10-129901091-T-G |
c.9013A>C |
p.S3005R |
Missense |
13/15 |
- |
1 |
10-129901092-T-A |
c.9012A>T |
p.G3004= |
Synonymous |
13/15 |
- |
3 |
10-129901092-T-C |
c.9012A>G |
p.G3004= |
Synonymous |
13/15 |
- |
1 |
10-129901092-T-G |
c.9012A>C |
p.G3004= |
Synonymous |
13/15 |
- |
1 |
10-129901097-C-T |
c.9007G>A |
p.D3003N |
Missense |
13/15 |
- |
1 |
10-129901102-C-G |
c.9002G>C |
p.G3001A |
Missense |
13/15 |
- |
1 |
10-129901103-C-T |
c.9001G>A |
p.G3001S |
Missense |
13/15 |
- |
1 |
10-129901108-C-G |
c.8996G>C |
p.G2999A |
Missense |
13/15 |
- |
1 |
10-129901113-C-A |
c.8991G>T |
p.K2997N |
Missense |
13/15 |
- |
1 |
10-129901113-C-G |
c.8991G>C |
p.K2997N |
Missense |
13/15 |
- |
1 |
10-129901134-G-A |
c.8970C>T |
p.S2990= |
Synonymous |
13/15 |
- |
2 |
10-129901134-G-C |
c.8970C>G |
p.S2990= |
Synonymous |
13/15 |
- |
1 |
10-129901134-G-T |
c.8970C>A |
p.S2990= |
Synonymous |
13/15 |
- |
1 |
10-129901135-G-A |
c.8969C>T |
p.S2990F |
Missense |
13/15 |
- |
1 |
10-129901141-T-C |
c.8963A>G |
p.N2988S |
Missense |
13/15 |
- |
3 |
10-129901144-C-T |
c.8960G>A |
p.S2987N |
Missense |
13/15 |
- |
2 |
10-129901150-C-A |
c.8954G>T |
p.S2985I |
Missense |
13/15 |
- |
1 |
10-129901162-A-C |
c.8942T>G |
p.V2981G |
Missense |
13/15 |
- |
1 |
10-129901170-T-A |
c.8934A>T |
p.R2978S |
Missense |
13/15 |
- |
1 |
10-129901178-T-G |
c.8926A>C |
p.S2976R |
Missense |
13/15 |
- |
1 |
10-129901181-C-T |
c.8923G>A |
p.V2975I |
Missense |
13/15 |
- |
2 |
10-129901184-C-A |
c.8920G>T |
p.V2974L |
Missense |
13/15 |
- |
2 |
10-129901184-C-G |
c.8920G>C |
p.V2974L |
Missense |
13/15 |
- |
1 |
10-129901184-C-T |
c.8920G>A |
p.V2974M |
Missense |
13/15 |
- |
2 |
10-129901188-T-C |
c.8916A>G |
p.G2972= |
Synonymous |
13/15 |
- |
1 |
10-129901191-CAC-GAT |
c.8911_8913delinsATC |
p.V2971I |
Missense |
13/15 |
- |
1 |
10-129901193-C-A |
c.8911G>T |
p.V2971L |
Missense |
13/15 |
- |
1 |
10-129901193-C-G |
c.8911G>C |
p.V2971L |
Missense |
13/15 |
- |
1 |
10-129901193-C-T |
c.8911G>A |
p.V2971M |
Missense |
13/15 |
- |
1 |
10-129901194-G-A |
c.8910C>T |
p.P2970= |
Synonymous |
13/15 |
- |
3 |
10-129901194-G-C |
c.8910C>G |
p.P2970= |
Synonymous |
13/15 |
- |
1 |
10-129901194-G-T |
c.8910C>A |
p.P2970= |
Synonymous |
13/15 |
- |
1 |
10-129901199-C-A |
c.8905G>T |
p.E2969* |
Nonsense |
13/15 |
- |
1 |
10-129901203-T-A |
c.8901A>T |
p.K2967N |
Missense |
13/15 |
- |
3 |
10-129901203-T-G |
c.8901A>C |
p.K2967N |
Missense |
13/15 |
- |
2 |
10-129901210-G-T |
c.8894C>A |
p.A2965D |
Missense |
13/15 |
- |
1 |
10-129901211-C-T |
c.8893G>A |
p.A2965T |
Missense |
13/15 |
- |
1 |
10-129901212-C-T |
c.8892G>A |
p.R2964= |
Synonymous |
13/15 |
- |
2 |
10-129901213-C-G |
c.8891G>C |
p.R2964P |
Missense |
13/15 |
- |
3 |
10-129901213-C-T |
c.8891G>A |
p.R2964Q |
Missense |
13/15 |
- |
2 |
10-129901214-G-A |
c.8890C>T |
p.R2964W |
Missense |
13/15 |
- |
4 |
10-129901217-G-T |
c.8887C>A |
p.L2963I |
Missense |
13/15 |
- |
4 |
10-129901222-C-G |
c.8882G>C |
p.R2961T |
Missense |
13/15 |
- |
1 |
10-129901226-T-C |
c.8878A>G |
p.R2960G |
Missense |
13/15 |
- |
1 |
10-129901231-A-G |
c.8873T>C |
p.I2958T |
Missense |
13/15 |
- |
3 |
10-129901235-T-G |
c.8869A>C |
p.K2957Q |
Missense |
13/15 |
- |
1 |
10-129901236-T-C |
c.8868A>G |
p.L2956= |
Synonymous |
13/15 |
- |
1 |
10-129901237-A-G |
c.8867T>C |
p.L2956P |
Missense |
13/15 |
- |
1 |
10-129901237-A-T |
c.8867T>A |
p.L2956Q |
Missense |
13/15 |
- |
1 |
10-129901238-G-A |
c.8866C>T |
p.L2956= |
Synonymous |
13/15 |
- |
1 |
10-129901238-G-C |
c.8866C>G |
p.L2956V |
Missense |
13/15 |
- |
5 |
10-129901238-G-T |
c.8866C>A |
p.L2956I |
Missense |
13/15 |
- |
1 |
10-129901236-TAG-T |
c.8866_8867del |
p.L2956Kfs*11 |
Frameshift |
13/15 |
- |
1 |
10-129901241-G-T |
c.8863C>A |
p.P2955T |
Missense |
13/15 |
- |
1 |
10-129901246-C-G |
c.8858G>C |
p.G2953A |
Missense |
13/15 |
- |
1 |
10-129901256-G-A |
c.8848C>T |
p.P2950S |
Missense |
13/15 |
- |
2 |
10-129901257-T-G |
c.8847A>C |
p.T2949= |
Synonymous |
13/15 |
- |
1 |
10-129901259-T-C |
c.8845A>G |
p.T2949A |
Missense |
13/15 |
- |
1 |
10-129901268-G-T |
c.8836C>A |
p.P2946T |
Missense |
13/15 |
- |
1 |
10-129901272-G-T |
c.8832C>A |
p.S2944R |
Missense |
13/15 |
- |
1 |
10-129901277-T-C |
c.8827A>G |
p.T2943A |
Missense |
13/15 |
- |
1 |
10-129901286-C-T |
c.8818G>A |
p.D2940N |
Missense |
13/15 |
- |
5 |
10-129901296-A-G |
c.8808T>C |
p.N2936= |
Synonymous |
13/15 |
- |
1 |
10-129901305-T-C |
c.8799A>G |
p.E2933= |
Synonymous |
13/15 |
- |
1 |
10-129901316-G-A |
c.8788C>T |
p.H2930Y |
Missense |
13/15 |
- |
5 |
10-129901317-G-T |
c.8787C>A |
p.G2929= |
Synonymous |
13/15 |
- |
1 |
10-129901325-T-C |
c.8779A>G |
p.T2927A |
Missense |
13/15 |
- |
1 |
10-129901327-T-C |
c.8777A>G |
p.Q2926R |
Missense |
13/15 |
- |
1 |
10-129901329-A-C |
c.8775T>G |
p.S2925= |
Synonymous |
13/15 |
- |
1 |
10-129901329-A-G |
c.8775T>C |
p.S2925= |
Synonymous |
13/15 |
- |
1 |
10-129901329-A-T |
c.8775T>A |
p.S2925= |
Synonymous |
13/15 |
- |
1 |
10-129901327-TGA-T |
c.8775_8776del |
p.Q2926Nfs*6 |
Frameshift |
13/15 |
- |
1 |
10-129901345-C-T |
c.8759G>A |
p.S2920N |
Missense |
13/15 |
- |
2 |
10-129901349-C-G |
c.8755G>C |
p.A2919P |
Missense |
13/15 |
- |
2 |
10-129901349-C-T |
c.8755G>A |
p.A2919T |
Missense |
13/15 |
- |
1 |
10-129901351-A-G |
c.8753T>C |
p.L2918P |
Missense |
13/15 |
- |
2 |
10-129901352-G-A |
c.8752C>T |
p.L2918= |
Synonymous |
13/15 |
- |
1 |
10-129901357-T-A |
c.8747A>T |
p.E2916V |
Missense |
13/15 |
- |
2 |
10-129901361-G-A |
c.8743C>T |
p.L2915= |
Synonymous |
13/15 |
- |
5 |
10-129901363-G-A |
c.8741C>T |
p.P2914L |
Missense |
13/15 |
- |
1 |
10-129901366-T-G |
c.8738A>C |
p.Q2913P |
Missense |
13/15 |
- |
2 |
10-129901369-G-A |
c.8735C>T |
p.A2912V |
Missense |
13/15 |
- |
1 |
10-129901381-G-T |
c.8723C>A |
p.P2908H |
Missense |
13/15 |
- |
4 |
10-129901383-T-A |
c.8721A>T |
p.A2907= |
Synonymous |
13/15 |
- |
1 |
10-129901383-T-C |
c.8721A>G |
p.A2907= |
Synonymous |
13/15 |
- |
1 |
10-129901383-T-G |
c.8721A>C |
p.A2907= |
Synonymous |
13/15 |
- |
1 |
10-129901387-C-T |
c.8717G>A |
p.R2906K |
Missense |
13/15 |
- |
1 |
10-129901387-CT-TG |
c.8716_8717delinsCA |
p.R2906Q |
Missense |
13/15 |
- |
1 |
10-129901392-C-T |
c.8712G>A |
p.Q2904= |
Synonymous |
13/15 |
- |
1 |
10-129901393-CTGTCTCCTGCTGCCAATTACAT-C |
c.8690_8711del |
p.D2897Gfs*53 |
Frameshift |
13/15 |
- |
1 |
10-129901393-T-C |
c.8711A>G |
p.Q2904R |
Missense |
13/15 |
- |
18 |
10-129901397-T-A |
c.8707A>T |
p.R2903* |
Nonsense |
13/15 |
- |
2 |
10-129901398-C-CT |
c.8705_8706insA |
p.R2903Efs*7 |
Frameshift |
13/15 |
- |
1 |
10-129901401-G-A |
c.8703C>T |
p.S2901= |
Synonymous |
13/15 |
- |
1 |
10-129901402-C-T |
c.8702G>A |
p.S2901N |
Missense |
13/15 |
- |
1 |
10-129901405-C-T |
c.8699G>A |
p.G2900D |
Missense |
13/15 |
- |
1 |
10-129901408-A-G |
c.8696T>C |
p.I2899T |
Missense |
13/15 |
- |
2 |
10-129901409-T-C |
c.8695A>G |
p.I2899V |
Missense |
13/15 |
- |
1 |
10-129901410-T-A |
c.8694A>T |
p.V2898= |
Synonymous |
13/15 |
- |
1 |
10-129901410-T-C |
c.8694A>G |
p.V2898= |
Synonymous |
13/15 |
- |
1 |
10-129901410-T-G |
c.8694A>C |
p.V2898= |
Synonymous |
13/15 |
- |
1 |
10-129901413-ATC-TTA |
c.8689_8691delinsTAA |
p.D2897* |
Nonsense |
13/15 |
- |
1 |
10-129901414-T-A |
c.8690A>T |
p.D2897V |
Missense |
13/15 |
- |
3 |
10-129901420-G-A |
c.8684C>T |
p.A2895V |
Missense |
13/15 |
- |
1 |
10-129901421-C-T |
c.8683G>A |
p.A2895T |
Missense |
13/15 |
- |
1 |
10-129901424-C-A |
c.8680G>T |
p.D2894Y |
Missense |
13/15 |
- |
6 |
10-129901426-A-G |
c.8678T>C |
p.L2893P |
Missense |
13/15 |
- |
1 |
10-129901432-C-A |
c.8672G>T |
p.R2891L |
Missense |
13/15 |
- |
1 |
10-129901432-C-T |
c.8672G>A |
p.R2891Q |
Missense |
13/15 |
- |
5 |
10-129901433-G-A |
c.8671C>T |
p.R2891W |
Missense |
13/15 |
- |
4 |
10-129901443-T-C |
c.8661A>G |
p.Q2887= |
Synonymous |
13/15 |
- |
3 |
10-129901446-C-T |
c.8658G>A |
p.K2886= |
Synonymous |
13/15 |
- |
1 |
10-129901450-A-C |
c.8654T>G |
p.F2885C |
Missense |
13/15 |
- |
1 |
10-129901454-C-T |
c.8650G>A |
p.A2884T |
Missense |
13/15 |
- |
2 |
10-129901458-C-A |
c.8646G>T |
p.T2882= |
Synonymous |
13/15 |
- |
1 |
10-129901458-C-G |
c.8646G>C |
p.T2882= |
Synonymous |
13/15 |
- |
1 |
10-129901458-C-T |
c.8646G>A |
p.T2882= |
Synonymous |
13/15 |
- |
2 |
10-129901459-G-A |
c.8645C>T |
p.T2882M |
Missense |
13/15 |
- |
2 |
10-129901468-C-G |
c.8636G>C |
p.G2879A |
Missense |
13/15 |
- |
1 |
10-129901476-T-A |
c.8628A>T |
p.V2876= |
Synonymous |
13/15 |
- |
1 |
10-129901476-T-C |
c.8628A>G |
p.V2876= |
Synonymous |
13/15 |
- |
1 |
10-129901476-T-G |
c.8628A>C |
p.V2876= |
Synonymous |
13/15 |
- |
1 |
10-129901480-G-A |
c.8624C>T |
p.P2875L |
Missense |
13/15 |
- |
2 |
10-129901480-G-T |
c.8624C>A |
p.P2875Q |
Missense |
13/15 |
- |
1 |
10-129901489-T-A |
c.8615A>T |
p.D2872V |
Missense |
13/15 |
- |
1 |
10-129901490-C-T |
c.8614G>A |
p.D2872N |
Missense |
13/15 |
- |
2 |
10-129901494-G-A |
c.8610C>T |
p.H2870= |
Synonymous |
13/15 |
- |
1 |
10-129901497-C-A |
c.8607G>T |
p.T2869= |
Synonymous |
13/15 |
- |
1 |
10-129901497-C-G |
c.8607G>C |
p.T2869= |
Synonymous |
13/15 |
- |
1 |
10-129901497-C-T |
c.8607G>A |
p.T2869= |
Synonymous |
13/15 |
- |
2 |
10-129901498-G-A |
c.8606C>T |
p.T2869M |
Missense |
13/15 |
- |
4 |
10-129901500-G-A |
c.8604C>T |
p.T2868= |
Synonymous |
13/15 |
- |
2 |
10-129901500-G-C |
c.8604C>G |
p.T2868= |
Synonymous |
13/15 |
- |
2 |
10-129901500-G-T |
c.8604C>A |
p.T2868= |
Synonymous |
13/15 |
- |
2 |
10-129901501-G-A |
c.8603C>T |
p.T2868I |
Missense |
13/15 |
- |
8 |
10-129901501-G-C |
c.8603C>G |
p.T2868S |
Missense |
13/15 |
- |
23 |
10-129901502-T-A |
c.8602A>T |
p.T2868S |
Missense |
13/15 |
- |
2 |
10-129901509-T-TG |
c.8594dup |
p.G2866Rfs*13 |
Frameshift |
13/15 |
- |
2 |
10-129901517-G-A |
c.8587C>T |
p.Q2863* |
Nonsense |
13/15 |
- |
3 |
10-129901522-A-G |
c.8582T>C |
p.L2861P |
Missense |
13/15 |
- |
1 |
10-129901523-G-A |
c.8581C>T |
p.L2861F |
Missense |
13/15 |
- |
1 |
10-129901533-T-A |
c.8571A>T |
p.A2857= |
Synonymous |
13/15 |
- |
1 |
10-129901533-T-C |
c.8571A>G |
p.A2857= |
Synonymous |
13/15 |
- |
1 |
10-129901533-T-G |
c.8571A>C |
p.A2857= |
Synonymous |
13/15 |
- |
1 |
10-129901539-C-A |
c.8565G>T |
p.L2855= |
Synonymous |
13/15 |
- |
1 |
10-129901539-C-G |
c.8565G>C |
p.L2855= |
Synonymous |
13/15 |
- |
1 |
10-129901539-C-T |
c.8565G>A |
p.L2855= |
Synonymous |
13/15 |
- |
1 |
10-129901541-G-A |
c.8563C>T |
p.L2855= |
Synonymous |
13/15 |
- |
3 |
10-129901542-C-A |
c.8562G>T |
p.E2854D |
Missense |
13/15 |
- |
1 |
10-129901542-C-G |
c.8562G>C |
p.E2854D |
Missense |
13/15 |
- |
1 |
10-129901544-C-A |
c.8560G>T |
p.E2854* |
Nonsense |
13/15 |
- |
1 |
10-129901541-GCTC-G |
c.8560_8562del |
p.E2854del |
InFrameDeletion |
13/15 |
- |
2 |
10-129901567-G-C |
c.8537C>G |
p.A2846G |
Missense |
13/15 |
- |
1 |
10-129901570-C-T |
c.8534G>A |
p.R2845H |
Missense |
13/15 |
- |
12 |
10-129901571-G-A |
c.8533C>T |
p.R2845C |
Missense |
13/15 |
- |
1 |
10-129901573-G-T |
c.8531C>A |
p.T2844K |
Missense |
13/15 |
- |
1 |
10-129901575-C-T |
c.8529G>A |
p.R2843= |
Synonymous |
13/15 |
- |
1 |
10-129901577-T-G |
c.8527A>C |
p.R2843= |
Synonymous |
13/15 |
- |
1 |
10-129901577-T-C |
c.8527A>G |
p.R2843G |
Missense |
13/15 |
- |
1 |
10-129901580-G-A |
c.8524C>T |
p.P2842S |
Missense |
13/15 |
- |
1 |
10-129901581-CC-AT |
c.8522_8523delinsAT |
p.R2841H |
Missense |
13/15 |
- |
1 |
10-129901581-C-A |
c.8523G>T |
p.R2841= |
Synonymous |
13/15 |
- |
1 |
10-129901581-C-G |
c.8523G>C |
p.R2841= |
Synonymous |
13/15 |
- |
1 |
10-129901581-C-T |
c.8523G>A |
p.R2841= |
Synonymous |
13/15 |
- |
2 |
10-129901583-G-T |
c.8521C>A |
p.R2841= |
Synonymous |
13/15 |
- |
1 |
10-129901591-G-A |
c.8513C>T |
p.S2838L |
Missense |
13/15 |
- |
1 |
10-129901595-T-A |
c.8509A>T |
p.S2837C |
Missense |
13/15 |
- |
1 |
10-129901597-G-A |
c.8507C>T |
p.T2836I |
Missense |
13/15 |
- |
1 |
10-129901601-C-T |
c.8503G>A |
p.A2835T |
Missense |
13/15 |
- |
2 |
10-129901602-G-A |
c.8502C>T |
p.T2834= |
Synonymous |
13/15 |
- |
2 |
10-129901602-G-T |
c.8502C>A |
p.T2834= |
Synonymous |
13/15 |
- |
1 |
10-129901607-C-A |
c.8497G>T |
p.D2833Y |
Missense |
13/15 |
- |
1 |
10-129901608-T-A |
c.8496A>T |
p.E2832D |
Missense |
13/15 |
- |
1 |
10-129901608-T-G |
c.8496A>C |
p.E2832D |
Missense |
13/15 |
- |
1 |
10-129901609-T-G |
c.8495A>C |
p.E2832A |
Missense |
13/15 |
- |
4 |
10-129901615-T-C |
c.8489A>G |
p.E2830G |
Missense |
13/15 |
- |
1 |
10-129901620-T-A |
c.8484A>T |
p.S2828= |
Synonymous |
13/15 |
- |
1 |
10-129901620-T-C |
c.8484A>G |
p.S2828= |
Synonymous |
13/15 |
- |
2 |
10-129901620-T-G |
c.8484A>C |
p.S2828= |
Synonymous |
13/15 |
- |
1 |
10-129901621-G-A |
c.8483C>T |
p.S2828L |
Missense |
13/15 |
- |
3 |
10-129901624-G-C |
c.8480C>G |
p.S2827* |
Nonsense |
13/15 |
- |
2 |
10-129901624-G-T |
c.8480C>A |
p.S2827* |
Nonsense |
13/15 |
- |
3 |
10-129901629-G-A |
c.8475C>T |
p.C2825= |
Synonymous |
13/15 |
- |
2 |
10-129901633-G-T |
c.8471C>A |
p.P2824H |
Missense |
13/15 |
- |
1 |
10-129901642-G-C |
c.8462C>G |
p.T2821S |
Missense |
13/15 |
- |
1 |
10-129901643-T-A |
c.8461A>T |
p.T2821S |
Missense |
13/15 |
- |
1 |
10-129901645-G-A |
c.8459C>T |
p.T2820I |
Missense |
13/15 |
- |
2 |
10-129901654-AT-A |
c.8450del |
p.D2817Vfs*15 |
Frameshift |
13/15 |
- |
1 |
10-129901654-T-C |
c.8450A>G |
p.D2817G |
Missense |
13/15 |
- |
3 |
10-129901655-C-CA |
c.8448dup |
p.D2817* |
Nonsense |
13/15 |
- |
1 |
10-129901658-T-C |
c.8446A>G |
p.T2816A |
Missense |
13/15 |
- |
1 |
10-129901663-G-A |
c.8441C>T |
p.S2814L |
Missense |
13/15 |
- |
2 |
10-129901667-C-A |
c.8437G>T |
p.E2813* |
Nonsense |
13/15 |
- |
1 |
10-129901667-C-G |
c.8437G>C |
p.E2813Q |
Missense |
13/15 |
- |
1 |
10-129901667-C-T |
c.8437G>A |
p.E2813K |
Missense |
13/15 |
- |
1 |
10-129901679-C-CT |
c.8424dup |
p.G2809Rfs*4 |
Frameshift |
13/15 |
- |
1 |
10-129901678-CCTG-C |
c.8423_8425del |
p.A2808del |
InFrameDeletion |
13/15 |
- |
1 |
10-129901698-G-A |
c.8406C>T |
p.G2802= |
Synonymous |
13/15 |
- |
4 |
10-129901698-G-C |
c.8406C>G |
p.G2802= |
Synonymous |
13/15 |
- |
1 |
10-129901698-G-T |
c.8406C>A |
p.G2802= |
Synonymous |
13/15 |
- |
1 |
10-129901706-G-A |
c.8398C>T |
p.L2800= |
Synonymous |
13/15 |
- |
1 |
10-129901709-C-A |
c.8395G>T |
p.D2799Y |
Missense |
13/15 |
- |
1 |
10-129901711-T-C |
c.8393A>G |
p.E2798G |
Missense |
13/15 |
- |
1 |
10-129901717-G-A |
c.8387C>T |
p.A2796V |
Missense |
13/15 |
- |
2 |
10-129901721-G-T |
c.8383C>A |
p.Q2795K |
Missense |
13/15 |
- |
1 |
10-129901722-G-A |
c.8382C>T |
p.A2794= |
Synonymous |
13/15 |
- |
8 |
10-129901725-A-G |
c.8379T>C |
p.S2793= |
Synonymous |
13/15 |
- |
1 |
10-129901726-C-A |
c.8378G>T |
p.S2793I |
Missense |
13/15 |
- |
1 |
10-129901726-C-G |
c.8378G>C |
p.S2793T |
Missense |
13/15 |
- |
4 |
10-129901726-C-T |
c.8378G>A |
p.S2793N |
Missense |
13/15 |
- |
14 |
10-129901735-G-C |
c.8369C>G |
p.P2790R |
Missense |
13/15 |
- |
2 |
10-129901745-G-A |
c.8359C>T |
p.P2787S |
Missense |
13/15 |
- |
1 |
10-129901747-C-T |
c.8357G>A |
p.R2786Q |
Missense |
13/15 |
- |
24 |
10-129901746-C-A |
c.8358G>T |
p.R2786= |
Synonymous |
13/15 |
- |
2 |
10-129901746-C-G |
c.8358G>C |
p.R2786= |
Synonymous |
13/15 |
- |
2 |
10-129901746-C-T |
c.8358G>A |
p.R2786= |
Synonymous |
13/15 |
- |
2 |
10-129901748-G-A |
c.8356C>T |
p.R2786W |
Missense |
13/15 |
- |
1 |
10-129901748-G-T |
c.8356C>A |
p.R2786= |
Synonymous |
13/15 |
- |
2 |
10-129901757-T-C |
c.8347A>G |
p.S2783G |
Missense |
13/15 |
- |
2 |
10-129901760-C-T |
c.8344G>A |
p.G2782S |
Missense |
13/15 |
- |
1 |
10-129901762-G-A |
c.8342C>T |
p.T2781I |
Missense |
13/15 |
- |
7 |
10-129901762-G-C |
c.8342C>G |
p.T2781S |
Missense |
13/15 |
- |
2 |
10-129901763-T-A |
c.8341A>T |
p.T2781S |
Missense |
13/15 |
- |
1 |
10-129901763-T-C |
c.8341A>G |
p.T2781A |
Missense |
13/15 |
- |
1 |
10-129901771-G-A |
c.8333C>T |
p.A2778V |
Missense |
13/15 |
- |
1 |
10-129901774-G-A |
c.8330C>T |
p.A2777V |
Missense |
13/15 |
- |
1 |
10-129901775-C-T |
c.8329G>A |
p.A2777T |
Missense |
13/15 |
- |
1 |
10-129901776-T-A |
c.8328A>T |
p.P2776= |
Synonymous |
13/15 |
- |
1 |
10-129901776-T-C |
c.8328A>G |
p.P2776= |
Synonymous |
13/15 |
- |
1 |
10-129901776-T-G |
c.8328A>C |
p.P2776= |
Synonymous |
13/15 |
- |
1 |
10-129901778-G-T |
c.8326C>A |
p.P2776T |
Missense |
13/15 |
- |
1 |
10-129901783-G-A |
c.8321C>T |
p.P2774L |
Missense |
13/15 |
- |
3 |
10-129901787-T-A |
c.8317A>T |
p.T2773S |
Missense |
13/15 |
- |
6 |
10-129901805-T-G |
c.8299A>C |
p.K2767Q |
Missense |
13/15 |
- |
1 |
10-129901806-C-T |
c.8298G>A |
p.L2766= |
Synonymous |
13/15 |
- |
1 |
10-129901808-A-G |
c.8296T>C |
p.L2766= |
Synonymous |
13/15 |
- |
1 |
10-129901810-G-A |
c.8294C>T |
p.A2765V |
Missense |
13/15 |
- |
1 |
10-129901811-C-A |
c.8293G>T |
p.A2765S |
Missense |
13/15 |
- |
2 |
10-129901824-A-G |
c.8280T>C |
p.D2760= |
Synonymous |
13/15 |
- |
1 |
10-129901825-T-C |
c.8279A>G |
p.D2760G |
Missense |
13/15 |
- |
17 |
10-129901829-C-T |
c.8275G>A |
p.E2759K |
Missense |
13/15 |
- |
1 |
10-129901836-T-A |
c.8268A>T |
p.P2756= |
Synonymous |
13/15 |
- |
1 |
10-129901836-T-C |
c.8268A>G |
p.P2756= |
Synonymous |
13/15 |
- |
1 |
10-129901836-T-G |
c.8268A>C |
p.P2756= |
Synonymous |
13/15 |
- |
2 |
10-129901841-C-A |
c.8263G>T |
p.E2755* |
Nonsense |
13/15 |
- |
1 |
10-129901847-C-G |
c.8257G>C |
p.D2753H |
Missense |
13/15 |
- |
2 |
10-129901848-T-A |
c.8256A>T |
p.A2752= |
Synonymous |
13/15 |
- |
1 |
10-129901850-C-G |
c.8254G>C |
p.A2752P |
Missense |
13/15 |
- |
1 |
10-129901853-C-T |
c.8251G>A |
p.D2751N |
Missense |
13/15 |
- |
7 |
10-129901854-C-T |
c.8250G>A |
p.T2750= |
Synonymous |
13/15 |
- |
1 |
10-129901855-G-A |
c.8249C>T |
p.T2750M |
Missense |
13/15 |
- |
1 |
10-129901870-G-C |
c.8234C>G |
p.T2745R |
Missense |
13/15 |
- |
1 |
10-129901873-T-A |
c.8231A>T |
p.Q2744L |
Missense |
13/15 |
- |
1 |
10-129901878-G-A |
c.8226C>T |
p.F2742= |
Synonymous |
13/15 |
- |
3 |
10-129901889-C-A |
c.8215G>T |
p.A2739S |
Missense |
13/15 |
- |
1 |
10-129901889-C-T |
c.8215G>A |
p.A2739T |
Missense |
13/15 |
- |
1 |
10-129901895-G-C |
c.8209C>G |
p.P2737A |
Missense |
13/15 |
- |
1 |
10-129901898-C-G |
c.8206G>C |
p.E2736Q |
Missense |
13/15 |
- |
1 |
10-129901896-CTCT-C |
c.8205_8207del |
p.E2736del |
InFrameDeletion |
13/15 |
- |
2 |
10-129901907-C-T |
c.8197G>A |
p.V2733I |
Missense |
13/15 |
- |
1 |
10-129901908-T-C |
c.8196A>G |
p.Q2732= |
Synonymous |
13/15 |
- |
1 |
10-129901909-T-C |
c.8195A>G |
p.Q2732R |
Missense |
13/15 |
- |
1 |
10-129901924-C-T |
c.8180G>A |
p.R2727H |
Missense |
13/15 |
- |
1 |
10-129901925-G-A |
c.8179C>T |
p.R2727C |
Missense |
13/15 |
- |
1 |
10-129901926-T-A |
c.8178A>T |
p.T2726= |
Synonymous |
13/15 |
- |
2 |
10-129901926-T-C |
c.8178A>G |
p.T2726= |
Synonymous |
13/15 |
- |
2 |
10-129901926-T-G |
c.8178A>C |
p.T2726= |
Synonymous |
13/15 |
- |
3 |
10-129901930-C-A |
c.8174G>T |
p.R2725M |
Missense |
13/15 |
- |
1 |
10-129901934-G-A |
c.8170C>T |
p.L2724F |
Missense |
13/15 |
- |
1 |
10-129901938-CCTCTTTGTG-C |
c.8157_8165del |
p.S2719_K2721del |
InFrameDeletion |
13/15 |
- |
1 |
10-129901944-T-A |
c.8160A>T |
p.T2720= |
Synonymous |
13/15 |
- |
1 |
10-129901944-T-C |
c.8160A>G |
p.T2720= |
Synonymous |
13/15 |
- |
2 |
10-129901944-T-G |
c.8160A>C |
p.T2720= |
Synonymous |
13/15 |
- |
1 |
10-129901946-T-G |
c.8158A>C |
p.T2720P |
Missense |
13/15 |
- |
19 |
10-129901948-C-T |
c.8156G>A |
p.S2719N |
Missense |
13/15 |
- |
2 |
10-129901949-T-A |
c.8155A>T |
p.S2719C |
Missense |
13/15 |
- |
1 |
10-129901952-C-A |
c.8152G>T |
p.A2718S |
Missense |
13/15 |
- |
1 |
10-129901975-G-A |
c.8129C>T |
p.P2710L |
Missense |
13/15 |
- |
2 |
10-129901975-G-C |
c.8129C>G |
p.P2710R |
Missense |
13/15 |
- |
1 |
10-129901975-G-T |
c.8129C>A |
p.P2710Q |
Missense |
13/15 |
- |
1 |
10-129901976-G-T |
c.8128C>A |
p.P2710T |
Missense |
13/15 |
- |
1 |
10-129901980-A-C |
c.8124T>G |
p.S2708= |
Synonymous |
13/15 |
- |
1 |
10-129901980-A-G |
c.8124T>C |
p.S2708= |
Synonymous |
13/15 |
- |
2 |
10-129901980-A-T |
c.8124T>A |
p.S2708= |
Synonymous |
13/15 |
- |
1 |
10-129901985-C-A |
c.8119G>T |
p.E2707* |
Nonsense |
13/15 |
- |
1 |
10-129901985-C-T |
c.8119G>A |
p.E2707K |
Missense |
13/15 |
- |
4 |
10-129901986-G-A |
c.8118C>T |
p.C2706= |
Synonymous |
13/15 |
- |
1 |
10-129901987-CA-GC |
c.8116_8117delinsGC |
p.C2706A |
Missense |
13/15 |
- |
1 |
10-129901989-G-A |
c.8115C>T |
p.P2705= |
Synonymous |
13/15 |
- |
1 |
10-129901989-G-C |
c.8115C>G |
p.P2705= |
Synonymous |
13/15 |
- |
1 |
10-129901989-G-T |
c.8115C>A |
p.P2705= |
Synonymous |
13/15 |
- |
1 |
10-129902002-G-A |
c.8102C>T |
p.A2701V |
Missense |
13/15 |
- |
2 |
10-129902002-G-C |
c.8102C>G |
p.A2701G |
Missense |
13/15 |
- |
1 |
10-129902007-G-A |
c.8097C>T |
p.G2699= |
Synonymous |
13/15 |
- |
1 |
10-129902007-G-C |
c.8097C>G |
p.G2699= |
Synonymous |
13/15 |
- |
1 |
10-129902007-G-T |
c.8097C>A |
p.G2699= |
Synonymous |
13/15 |
- |
1 |
10-129902008-C-A |
c.8096G>T |
p.G2699V |
Missense |
13/15 |
- |
1 |
10-129902011-G-A |
c.8093C>T |
p.A2698V |
Missense |
13/15 |
- |
1 |
10-129902019-T-G |
c.8085A>C |
p.S2695= |
Synonymous |
13/15 |
- |
2 |
10-129902020-G-A |
c.8084C>T |
p.S2695L |
Missense |
13/15 |
- |
1 |
10-129902025-C-T |
c.8079G>A |
p.Q2693= |
Synonymous |
13/15 |
- |
1 |
10-129902027-G-C |
c.8077C>G |
p.Q2693E |
Missense |
13/15 |
- |
1 |
10-129902036-C-G |
c.8068G>C |
p.G2690R |
Missense |
13/15 |
- |
1 |
10-129902038-G-C |
c.8066C>G |
p.S2689* |
Nonsense |
13/15 |
- |
1 |
10-129902038-G-T |
c.8066C>A |
p.S2689* |
Nonsense |
13/15 |
- |
1 |
10-129902045-C-T |
c.8059G>A |
p.E2687K |
Missense |
13/15 |
- |
2 |
10-129902047-G-A |
c.8057C>T |
p.S2686F |
Missense |
13/15 |
- |
1 |
10-129902047-G-C |
c.8057C>G |
p.S2686C |
Missense |
13/15 |
- |
1 |
10-129902062-C-A |
c.8042G>T |
p.G2681V |
Missense |
13/15 |
- |
2 |
10-129902073-T-G |
c.8031A>C |
p.E2677D |
Missense |
13/15 |
- |
2 |
10-129902079-G-A |
c.8025C>T |
p.P2675= |
Synonymous |
13/15 |
- |
1 |
10-129902086-G-A |
c.8018C>T |
p.A2673V |
Missense |
13/15 |
- |
1 |
10-129902088-CCTTTTCCTTAGGT-C |
c.8004_8016del |
p.K2670Nfs*23 |
Frameshift |
13/15 |
- |
1 |
10-129902099-G-A |
c.8005C>T |
p.P2669S |
Missense |
13/15 |
- |
2 |
10-129902105-T-A |
c.7999A>T |
p.R2667* |
Nonsense |
13/15 |
- |
1 |
10-129902106-T-A |
c.7998A>T |
p.P2666= |
Synonymous |
13/15 |
- |
1 |
10-129902109-C-A |
c.7995G>T |
p.R2665S |
Missense |
13/15 |
- |
1 |
10-129902110-C-T |
c.7994G>A |
p.R2665K |
Missense |
13/15 |
- |
1 |
10-129902110-CT-TA |
c.7993_7994delinsTA |
p.R2665* |
Nonsense |
13/15 |
- |
1 |
10-129902113-C-T |
c.7991G>A |
p.R2664K |
Missense |
13/15 |
- |
1 |
10-129902123-G-T |
c.7981C>A |
p.P2661T |
Missense |
13/15 |
- |
1 |
10-129902126-C-G |
c.7978G>C |
p.E2660Q |
Missense |
13/15 |
- |
3 |
10-129902129-C-T |
c.7975G>A |
p.E2659K |
Missense |
13/15 |
- |
1 |
10-129902127-CTCT-C |
c.7974_7976del |
p.E2660del |
InFrameDeletion |
13/15 |
- |
2 |
10-129902131-T-C |
c.7973A>G |
p.E2658G |
Missense |
13/15 |
- |
5 |
10-129902137-G-T |
c.7967C>A |
p.P2656Q |
Missense |
13/15 |
- |
3 |
10-129902139-G-A |
c.7965C>T |
p.N2655= |
Synonymous |
13/15 |
- |
3 |
10-129902142-T-A |
c.7962A>T |
p.P2654= |
Synonymous |
13/15 |
- |
1 |
10-129902142-T-C |
c.7962A>G |
p.P2654= |
Synonymous |
13/15 |
- |
1 |
10-129902142-T-G |
c.7962A>C |
p.P2654= |
Synonymous |
13/15 |
- |
1 |
10-129902142-TG-T |
c.7961del |
p.P2654Qfs*4 |
Frameshift |
13/15 |
- |
1 |
10-129902146-T-C |
c.7958A>G |
p.K2653R |
Missense |
13/15 |
- |
1 |
10-129902151-C-A |
c.7953G>T |
p.K2651N |
Missense |
13/15 |
- |
1 |
10-129902153-T-G |
c.7951A>C |
p.K2651Q |
Missense |
13/15 |
- |
1 |
10-129902157-A-C |
c.7947T>G |
p.R2649= |
Synonymous |
13/15 |
- |
1 |
10-129902157-A-G |
c.7947T>C |
p.R2649= |
Synonymous |
13/15 |
- |
1 |
10-129902157-A-T |
c.7947T>A |
p.R2649= |
Synonymous |
13/15 |
- |
1 |
10-129902158-C-T |
c.7946G>A |
p.R2649H |
Missense |
13/15 |
- |
20 |
10-129902159-G-A |
c.7945C>T |
p.R2649C |
Missense |
13/15 |
- |
1 |
10-129902166-C-A |
c.7938G>T |
p.L2646F |
Missense |
13/15 |
- |
1 |
10-129902166-C-G |
c.7938G>C |
p.L2646F |
Missense |
13/15 |
- |
1 |
10-129902172-T-A |
c.7932A>T |
p.K2644N |
Missense |
13/15 |
- |
1 |
10-129902173-T-C |
c.7931A>G |
p.K2644R |
Missense |
13/15 |
- |
5 |
10-129902179-CC-GT |
c.7924_7925delinsAC |
p.G2642T |
Missense |
13/15 |
- |
1 |
10-129902179-C-G |
c.7925G>C |
p.G2642A |
Missense |
13/15 |
- |
1 |
10-129902179-C-T |
c.7925G>A |
p.G2642D |
Missense |
13/15 |
- |
1 |
10-129902187-A-C |
c.7917T>G |
p.G2639= |
Synonymous |
13/15 |
- |
1 |
10-129902187-A-G |
c.7917T>C |
p.G2639= |
Synonymous |
13/15 |
- |
1 |
10-129902187-A-T |
c.7917T>A |
p.G2639= |
Synonymous |
13/15 |
- |
1 |
10-129902190-G-A |
c.7914C>T |
p.S2638= |
Synonymous |
13/15 |
- |
1 |
10-129902195-C-T |
c.7909G>A |
p.A2637T |
Missense |
13/15 |
- |
2 |
10-129902197-G-A |
c.7907C>T |
p.P2636L |
Missense |
13/15 |
- |
3 |
10-129902197-G-T |
c.7907C>A |
p.P2636Q |
Missense |
13/15 |
- |
1 |
10-129902203-T-G |
c.7901A>C |
p.K2634T |
Missense |
13/15 |
- |
1 |
10-129902204-T-TA |
c.7899_7900insT |
p.K2634* |
Nonsense |
13/15 |
- |
1 |
10-129902204-T-TTG |
c.7899_7900insCA |
p.K2634Qfs*14 |
Frameshift |
13/15 |
- |
1 |
10-129902207-G-C |
c.7897C>G |
p.H2633D |
Missense |
13/15 |
- |
3 |
10-129902210-T-C |
c.7894A>G |
p.T2632A |
Missense |
13/15 |
- |
1 |
10-129902203-TTGTG-T |
c.7897_7900del |
p.H2633Kfs*13 |
Frameshift |
13/15 |
- |
1 |
10-129902203-TTG-T |
c.7899_7900del |
p.H2633Qfs*7 |
Frameshift |
13/15 |
- |
6 |
10-129902216-T-A |
c.7888A>T |
p.T2630S |
Missense |
13/15 |
- |
1 |
10-129902216-T-C |
c.7888A>G |
p.T2630A |
Missense |
13/15 |
- |
1 |
10-129902235-C-A |
c.7869G>T |
p.T2623= |
Synonymous |
13/15 |
- |
1 |
10-129902235-C-G |
c.7869G>C |
p.T2623= |
Synonymous |
13/15 |
- |
1 |
10-129902235-C-T |
c.7869G>A |
p.T2623= |
Synonymous |
13/15 |
- |
1 |
10-129902236-G-A |
c.7868C>T |
p.T2623M |
Missense |
13/15 |
- |
4 |
10-129902237-T-A |
c.7867A>T |
p.T2623S |
Missense |
13/15 |
- |
2 |
10-129902238-G-A |
c.7866C>T |
p.L2622= |
Synonymous |
13/15 |
- |
1 |
10-129902238-G-C |
c.7866C>G |
p.L2622= |
Synonymous |
13/15 |
- |
1 |
10-129902238-G-T |
c.7866C>A |
p.L2622= |
Synonymous |
13/15 |
- |
1 |
10-129902244-C-G |
c.7860G>C |
p.E2620D |
Missense |
13/15 |
- |
1 |
10-129902248-A-G |
c.7856T>C |
p.V2619A |
Missense |
13/15 |
- |
1 |
10-129902254-G-A |
c.7850C>T |
p.S2617L |
Missense |
13/15 |
- |
3 |
10-129902259-C-T |
c.7845G>A |
p.E2615= |
Synonymous |
13/15 |
- |
1 |
10-129902260-T-G |
c.7844A>C |
p.E2615A |
Missense |
13/15 |
- |
1 |
10-129902261-C-A |
c.7843G>T |
p.E2615* |
Nonsense |
13/15 |
- |
1 |
10-129902264-C-A |
c.7840G>T |
p.E2614* |
Nonsense |
13/15 |
- |
1 |
10-129902264-C-G |
c.7840G>C |
p.E2614Q |
Missense |
13/15 |
- |
2 |
10-129902264-C-T |
c.7840G>A |
p.E2614K |
Missense |
13/15 |
- |
1 |
10-129902268-T-C |
c.7836A>G |
p.V2612= |
Synonymous |
13/15 |
- |
1 |
10-129902272-TC-AG |
c.7831_7832delinsCT |
p.E2611L |
Missense |
13/15 |
- |
2 |
10-129902272-TC-GA |
c.7831_7832inv |
p.E2611S |
Missense |
13/15 |
- |
1 |
10-129902273-C-A |
c.7831G>T |
p.E2611* |
Nonsense |
13/15 |
- |
1 |
10-129902280-G-A |
c.7824C>T |
p.P2608= |
Synonymous |
13/15 |
- |
2 |
10-129902280-G-C |
c.7824C>G |
p.P2608= |
Synonymous |
13/15 |
- |
2 |
10-129902280-G-T |
c.7824C>A |
p.P2608= |
Synonymous |
13/15 |
- |
2 |
10-129902281-G-A |
c.7823C>T |
p.P2608L |
Missense |
13/15 |
- |
28 |
10-129902284-C-T |
c.7820G>A |
p.R2607H |
Missense |
13/15 |
- |
5 |
10-129902288-T-C |
c.7816A>G |
p.T2606A |
Missense |
13/15 |
- |
1 |
10-129902296-CA-GT |
c.7807_7808delinsAC |
p.C2603T |
Missense |
13/15 |
- |
1 |
10-129902302-T-C |
c.7802A>G |
p.K2601R |
Missense |
13/15 |
- |
1 |
10-129902301-C-CT |
c.7802dup |
p.R2602Efs*19 |
Frameshift |
13/15 |
- |
1 |
10-129902310-C-A |
c.7794G>T |
p.T2598= |
Synonymous |
13/15 |
- |
2 |
10-129902311-G-A |
c.7793C>T |
p.T2598M |
Missense |
13/15 |
- |
2 |
10-129902316-AG-CA |
c.7787_7788delinsTG |
p.T2596M |
Missense |
13/15 |
- |
1 |
10-129902321-CTG-C |
c.7781_7782del |
p.T2594Rfs*26 |
Frameshift |
13/15 |
- |
4 |
10-129902324-T-A |
c.7780A>T |
p.T2594S |
Missense |
13/15 |
- |
1 |
10-129902330-C-A |
c.7774G>T |
p.E2592* |
Nonsense |
13/15 |
- |
1 |
10-129902330-C-G |
c.7774G>C |
p.E2592Q |
Missense |
13/15 |
- |
1 |
10-129902336-G-A |
c.7768C>T |
p.P2590S |
Missense |
13/15 |
- |
1 |
10-129902337-G-A |
c.7767C>T |
p.P2589= |
Synonymous |
13/15 |
- |
3 |
10-129902338-G-A |
c.7766C>T |
p.P2589L |
Missense |
13/15 |
- |
1 |
10-129902339-G-A |
c.7765C>T |
p.P2589S |
Missense |
13/15 |
- |
3 |
10-129902340-A-C |
c.7764T>G |
p.S2588= |
Synonymous |
13/15 |
- |
1 |
10-129902340-A-G |
c.7764T>C |
p.S2588= |
Synonymous |
13/15 |
- |
1 |
10-129902340-A-T |
c.7764T>A |
p.S2588= |
Synonymous |
13/15 |
- |
1 |
10-129902342-A-C |
c.7762T>G |
p.S2588A |
Missense |
13/15 |
- |
1 |
10-129902346-G-T |
c.7758C>A |
p.C2586* |
Nonsense |
13/15 |
- |
1 |
10-129902349-G-A |
c.7755C>T |
p.P2585= |
Synonymous |
13/15 |
- |
1 |
10-129902350-G-T |
c.7754C>A |
p.P2585H |
Missense |
13/15 |
- |
3 |
10-129902354-T-C |
c.7750A>G |
p.I2584V |
Missense |
13/15 |
- |
2 |
10-129902365-T-C |
c.7739A>G |
p.K2580R |
Missense |
13/15 |
- |
1 |
10-129902367-G-A |
c.7737C>T |
p.D2579= |
Synonymous |
13/15 |
- |
1 |
10-129902368-T-A |
c.7736A>T |
p.D2579V |
Missense |
13/15 |
- |
13 |
10-129902369-C-G |
c.7735G>C |
p.D2579H |
Missense |
13/15 |
- |
1 |
10-129902378-T-A |
c.7726A>T |
p.M2576L |
Missense |
13/15 |
- |
1 |
10-129902378-T-G |
c.7726A>C |
p.M2576L |
Missense |
13/15 |
- |
1 |
10-129902379-T-C |
c.7725A>G |
p.S2575= |
Synonymous |
13/15 |
- |
1 |
10-129902379-TG-AA |
c.7724_7725delinsTT |
p.S2575F |
Missense |
13/15 |
- |
2 |
10-129902387-C-T |
c.7717G>A |
p.E2573K |
Missense |
13/15 |
- |
1 |
10-129902393-G-A |
c.7711C>T |
p.H2571Y |
Missense |
13/15 |
- |
1 |
10-129902396-C-A |
c.7708G>T |
p.G2570C |
Missense |
13/15 |
- |
1 |
10-129902404-TGAG-T |
c.7698_7700del |
p.F2566_S2567delinsL |
MultiAAMissense |
13/15 |
- |
1 |
10-129902411-G-A |
c.7693C>T |
p.L2565F |
Missense |
13/15 |
- |
2 |
10-129902412-C-A |
c.7692G>T |
p.E2564D |
Missense |
13/15 |
- |
1 |
10-129902414-C-T |
c.7690G>A |
p.E2564K |
Missense |
13/15 |
- |
1 |
10-129902426-C-T |
c.7678G>A |
p.V2560I |
Missense |
13/15 |
- |
2 |
10-129902429-G-A |
c.7675C>T |
p.L2559= |
Synonymous |
13/15 |
- |
3 |
10-129902429-G-T |
c.7675C>A |
p.L2559M |
Missense |
13/15 |
- |
2 |
10-129902432-C-A |
c.7672G>T |
p.D2558Y |
Missense |
13/15 |
- |
2 |
10-129902440-G-C |
c.7664C>G |
p.A2555G |
Missense |
13/15 |
- |
1 |
10-129902443-C-T |
c.7661G>A |
p.R2554H |
Missense |
13/15 |
- |
5 |
10-129902444-G-A |
c.7660C>T |
p.R2554C |
Missense |
13/15 |
- |
1 |
10-129902448-C-A |
c.7656G>T |
p.K2552N |
Missense |
13/15 |
- |
1 |
10-129902450-T-TA |
c.7653_7654insT |
p.K2552* |
Nonsense |
13/15 |
- |
1 |
10-129902453-C-T |
c.7651G>A |
p.E2551K |
Missense |
13/15 |
- |
2 |
10-129902458-C-T |
c.7646G>A |
p.R2549H |
Missense |
13/15 |
- |
4 |
10-129902459-G-A |
c.7645C>T |
p.R2549C |
Missense |
13/15 |
- |
1 |
10-129902461-GT-CC |
c.7642_7643delinsGG |
p.T2548G |
Missense |
13/15 |
- |
1 |
10-129902463-T-A |
c.7641A>T |
p.R2547S |
Missense |
13/15 |
- |
1 |
10-129902463-TCT-ATG |
c.7639_7641delinsCAT |
p.R2547H |
Missense |
13/15 |
- |
1 |
10-129902463-T-G |
c.7641A>C |
p.R2547S |
Missense |
13/15 |
- |
2 |
10-129902484-AG-CA |
c.7619_7620delinsTG |
p.T2540M |
Missense |
13/15 |
- |
1 |
10-129902508-G-A |
c.7596C>T |
p.I2532= |
Synonymous |
13/15 |
- |
1 |
10-129902508-G-T |
c.7596C>A |
p.I2532= |
Synonymous |
13/15 |
- |
3 |
10-129902520-A-C |
c.7584T>G |
p.S2528= |
Synonymous |
13/15 |
- |
1 |
10-129902520-A-G |
c.7584T>C |
p.S2528= |
Synonymous |
13/15 |
- |
1 |
10-129902520-A-T |
c.7584T>A |
p.S2528= |
Synonymous |
13/15 |
- |
1 |
10-129902523-C-G |
c.7581G>C |
p.E2527D |
Missense |
13/15 |
- |
1 |
10-129902524-T-G |
c.7580A>C |
p.E2527A |
Missense |
13/15 |
- |
1 |
10-129902525-C-T |
c.7579G>A |
p.E2527K |
Missense |
13/15 |
- |
1 |
10-129902526-C-T |
c.7578G>A |
p.K2526= |
Synonymous |
13/15 |
- |
2 |
10-129902528-T-C |
c.7576A>G |
p.K2526E |
Missense |
13/15 |
- |
1 |
10-129902530-A-C |
c.7574T>G |
p.F2525C |
Missense |
13/15 |
- |
1 |
10-129902532-C-A |
c.7572G>T |
p.A2524= |
Synonymous |
13/15 |
- |
2 |
10-129902532-C-G |
c.7572G>C |
p.A2524= |
Synonymous |
13/15 |
- |
2 |
10-129902532-C-T |
c.7572G>A |
p.A2524= |
Synonymous |
13/15 |
- |
2 |
10-129902533-G-A |
c.7571C>T |
p.A2524V |
Missense |
13/15 |
- |
1 |
10-129902535-T-A |
c.7569A>T |
p.K2523N |
Missense |
13/15 |
- |
1 |
10-129902554-C-T |
c.7550G>A |
p.G2517E |
Missense |
13/15 |
- |
1 |
10-129902560-G-A |
c.7544C>T |
p.P2515L |
Missense |
13/15 |
- |
1 |
10-129902566-G-C |
c.7538C>G |
p.T2513R |
Missense |
13/15 |
- |
1 |
10-129902578-G-A |
c.7526C>T |
p.T2509M |
Missense |
13/15 |
- |
2 |
10-129902581-G-C |
c.7523C>G |
p.T2508S |
Missense |
13/15 |
- |
13 |
10-129902582-T-A |
c.7522A>T |
p.T2508S |
Missense |
13/15 |
- |
9 |
10-129902582-T-G |
c.7522A>C |
p.T2508P |
Missense |
13/15 |
- |
1 |
10-129902596-C-T |
c.7508G>A |
p.R2503Q |
Missense |
13/15 |
- |
3 |
10-129902595-C-A |
c.7509G>T |
p.R2503= |
Synonymous |
13/15 |
- |
1 |
10-129902595-C-G |
c.7509G>C |
p.R2503= |
Synonymous |
13/15 |
- |
1 |
10-129902595-C-T |
c.7509G>A |
p.R2503= |
Synonymous |
13/15 |
- |
1 |
10-129902597-G-A |
c.7507C>T |
p.R2503W |
Missense |
13/15 |
- |
1 |
10-129902597-G-T |
c.7507C>A |
p.R2503= |
Synonymous |
13/15 |
- |
1 |
10-129902600-T-G |
c.7504A>C |
p.T2502P |
Missense |
13/15 |
- |
1 |
10-129902613-T-A |
c.7491A>T |
p.A2497= |
Synonymous |
13/15 |
- |
1 |
10-129902613-T-C |
c.7491A>G |
p.A2497= |
Synonymous |
13/15 |
- |
1 |
10-129902613-T-G |
c.7491A>C |
p.A2497= |
Synonymous |
13/15 |
- |
1 |
10-129902617-A-C |
c.7487T>G |
p.L2496R |
Missense |
13/15 |
- |
1 |
10-129902621-G-A |
c.7483C>T |
p.P2495S |
Missense |
13/15 |
- |
2 |
10-129902624-C-G |
c.7480G>C |
p.E2494Q |
Missense |
13/15 |
- |
2 |
10-129902625-T-C |
c.7479A>G |
p.E2493= |
Synonymous |
13/15 |
- |
1 |
10-129902632-A-G |
c.7472T>C |
p.M2491T |
Missense |
13/15 |
- |
1 |
10-129902637-C-A |
c.7467G>T |
p.V2489= |
Synonymous |
13/15 |
- |
1 |
10-129902637-C-G |
c.7467G>C |
p.V2489= |
Synonymous |
13/15 |
- |
1 |
10-129902637-C-T |
c.7467G>A |
p.V2489= |
Synonymous |
13/15 |
- |
1 |
10-129902647-A-G |
c.7457T>C |
p.L2486P |
Missense |
13/15 |
- |
2 |
10-129902647-A-T |
c.7457T>A |
p.L2486Q |
Missense |
13/15 |
- |
1 |
10-129902650-G-A |
c.7454C>T |
p.P2485L |
Missense |
13/15 |
- |
3 |
10-129902656-T-C |
c.7448A>G |
p.K2483R |
Missense |
13/15 |
- |
1 |
10-129902660-G-A |
c.7444C>T |
p.L2482F |
Missense |
13/15 |
- |
1 |
10-129902662-C-T |
c.7442G>A |
p.R2481K |
Missense |
13/15 |
- |
2 |
10-129902663-T-A |
c.7441A>T |
p.R2481W |
Missense |
13/15 |
- |
1 |
10-129902667-C-A |
c.7437G>T |
p.K2479N |
Missense |
13/15 |
- |
1 |
10-129902667-C-G |
c.7437G>C |
p.K2479N |
Missense |
13/15 |
- |
1 |
10-129902670-G-A |
c.7434C>T |
p.S2478= |
Synonymous |
13/15 |
- |
1 |
10-129902670-G-C |
c.7434C>G |
p.S2478= |
Synonymous |
13/15 |
- |
1 |
10-129902670-G-T |
c.7434C>A |
p.S2478= |
Synonymous |
13/15 |
- |
1 |
10-129902673-G-A |
c.7431C>T |
p.S2477= |
Synonymous |
13/15 |
- |
1 |
10-129902682-G-A |
c.7422C>T |
p.T2474= |
Synonymous |
13/15 |
- |
2 |
10-129902682-G-C |
c.7422C>G |
p.T2474= |
Synonymous |
13/15 |
- |
1 |
10-129902682-G-T |
c.7422C>A |
p.T2474= |
Synonymous |
13/15 |
- |
1 |
10-129902688-G-C |
c.7416C>G |
p.F2472L |
Missense |
13/15 |
- |
1 |
10-129902688-G-T |
c.7416C>A |
p.F2472L |
Missense |
13/15 |
- |
1 |
10-129902690-A-G |
c.7414T>C |
p.F2472L |
Missense |
13/15 |
- |
1 |
10-129902692-G-A |
c.7412C>T |
p.S2471L |
Missense |
13/15 |
- |
4 |
10-129902696-C-A |
c.7408G>T |
p.E2470* |
Nonsense |
13/15 |
- |
2 |
10-129902704-G-T |
c.7400C>A |
p.P2467Q |
Missense |
13/15 |
- |
1 |
10-129902705-G-T |
c.7399C>A |
p.P2467T |
Missense |
13/15 |
- |
1 |
10-129902706-A-C |
c.7398T>G |
p.S2466= |
Synonymous |
13/15 |
- |
1 |
10-129902706-A-G |
c.7398T>C |
p.S2466= |
Synonymous |
13/15 |
- |
1 |
10-129902706-A-T |
c.7398T>A |
p.S2466= |
Synonymous |
13/15 |
- |
1 |
10-129902712-A-G |
c.7392T>C |
p.C2464= |
Synonymous |
13/15 |
- |
1 |
10-129902716-G-A |
c.7388C>T |
p.S2463F |
Missense |
13/15 |
- |
3 |
10-129902716-G-T |
c.7388C>A |
p.S2463Y |
Missense |
13/15 |
- |
1 |
10-129902730-T-A |
c.7374A>T |
p.K2458N |
Missense |
13/15 |
- |
1 |
10-129902730-T-G |
c.7374A>C |
p.K2458N |
Missense |
13/15 |
- |
1 |
10-129902734-T-C |
c.7370A>G |
p.D2457G |
Missense |
13/15 |
- |
2 |
10-129902740-G-T |
c.7364C>A |
p.T2455N |
Missense |
13/15 |
- |
3 |
10-129902746-G-A |
c.7358C>T |
p.S2453L |
Missense |
13/15 |
- |
2 |
10-129902752-T-C |
c.7352A>G |
p.E2451G |
Missense |
13/15 |
- |
1 |
10-129902761-C-T |
c.7343G>A |
p.G2448D |
Missense |
13/15 |
- |
1 |
10-129902780-C-A |
c.7324G>T |
p.E2442* |
Nonsense |
13/15 |
- |
1 |
10-129902791-A-G |
c.7313T>C |
p.V2438A |
Missense |
13/15 |
- |
1 |
10-129902795-G-C |
c.7309C>G |
p.L2437V |
Missense |
13/15 |
- |
1 |
10-129902797-T-C |
c.7307A>G |
p.D2436G |
Missense |
13/15 |
- |
3 |
10-129902810-C-G |
c.7294G>C |
p.E2432Q |
Missense |
13/15 |
- |
1 |
10-129902810-C-T |
c.7294G>A |
p.E2432K |
Missense |
13/15 |
- |
2 |
10-129902822-T-C |
c.7282A>G |
p.K2428E |
Missense |
13/15 |
- |
1 |
10-129902824-G-A |
c.7280C>T |
p.P2427L |
Missense |
13/15 |
- |
1 |
10-129902825-G-A |
c.7279C>T |
p.P2427S |
Missense |
13/15 |
- |
1 |
10-129902826-A-C |
c.7278T>G |
p.T2426= |
Synonymous |
13/15 |
- |
1 |
10-129902826-A-G |
c.7278T>C |
p.T2426= |
Synonymous |
13/15 |
- |
1 |
10-129902826-A-T |
c.7278T>A |
p.T2426= |
Synonymous |
13/15 |
- |
1 |
10-129902832-T-A |
c.7272A>T |
p.P2424= |
Synonymous |
13/15 |
- |
1 |
10-129902832-T-C |
c.7272A>G |
p.P2424= |
Synonymous |
13/15 |
- |
1 |
10-129902832-T-G |
c.7272A>C |
p.P2424= |
Synonymous |
13/15 |
- |
1 |
10-129902844-GCT-TCA |
c.7258_7260delinsTGA |
p.S2420* |
Nonsense |
13/15 |
- |
1 |
10-129902851-G-A |
c.7253C>T |
p.P2418L |
Missense |
13/15 |
- |
1 |
10-129902853-T-C |
c.7251A>G |
p.L2417= |
Synonymous |
13/15 |
- |
1 |
10-129902855-A-G |
c.7249T>C |
p.L2417= |
Synonymous |
13/15 |
- |
1 |
10-129902860-C-T |
c.7244G>A |
p.G2415E |
Missense |
13/15 |
- |
1 |
10-129902861-C-T |
c.7243G>A |
p.G2415R |
Missense |
13/15 |
- |
1 |
10-129902864-G-A |
c.7240C>T |
p.L2414= |
Synonymous |
13/15 |
- |
1 |
10-129902869-T-C |
c.7235A>G |
p.D2412G |
Missense |
13/15 |
- |
1 |
10-129902871-C-A |
c.7233G>T |
p.L2411= |
Synonymous |
13/15 |
- |
1 |
10-129902886-A-C |
c.7218T>G |
p.T2406= |
Synonymous |
13/15 |
- |
1 |
10-129902886-A-G |
c.7218T>C |
p.T2406= |
Synonymous |
13/15 |
- |
1 |
10-129902886-A-T |
c.7218T>A |
p.T2406= |
Synonymous |
13/15 |
- |
1 |
10-129902887-G-A |
c.7217C>T |
p.T2406I |
Missense |
13/15 |
- |
1 |
10-129902891-C-T |
c.7213G>A |
p.E2405K |
Missense |
13/15 |
- |
1 |
10-129902893-A-G |
c.7211T>C |
p.V2404A |
Missense |
13/15 |
- |
1 |
10-129902896-A-G |
c.7208T>C |
p.F2403S |
Missense |
13/15 |
- |
1 |
10-129902911-T-A |
c.7193A>T |
p.K2398I |
Missense |
13/15 |
- |
1 |
10-129902927-C-G |
c.7177G>C |
p.A2393P |
Missense |
13/15 |
- |
1 |
10-129902927-C-T |
c.7177G>A |
p.A2393T |
Missense |
13/15 |
- |
1 |
10-129902936-G-A |
c.7168C>T |
p.P2390S |
Missense |
13/15 |
- |
1 |
10-129902936-G-C |
c.7168C>G |
p.P2390A |
Missense |
13/15 |
- |
1 |
10-129902938-G-C |
c.7166C>G |
p.T2389R |
Missense |
13/15 |
- |
2 |
10-129902938-GT-CC |
c.7165_7166delinsGG |
p.T2389G |
Missense |
13/15 |
- |
1 |
10-129902953-C-A |
c.7151G>T |
p.G2384V |
Missense |
13/15 |
- |
1 |
10-129902959-G-A |
c.7145C>T |
p.S2382L |
Missense |
13/15 |
- |
1 |
10-129902962-G-A |
c.7142C>T |
p.P2381L |
Missense |
13/15 |
- |
1 |
10-129902968-C-A |
c.7136G>T |
p.R2379L |
Missense |
13/15 |
- |
1 |
10-129902968-C-T |
c.7136G>A |
p.R2379Q |
Missense |
13/15 |
- |
1 |
10-129902969-G-A |
c.7135C>T |
p.R2379* |
Nonsense |
13/15 |
- |
2 |
10-129902974-C-T |
c.7130G>A |
p.R2377K |
Missense |
13/15 |
- |
5 |
10-129902978-G-T |
c.7126C>A |
p.L2376I |
Missense |
13/15 |
- |
2 |
10-129902979-T-C |
c.7125A>G |
p.A2375= |
Synonymous |
13/15 |
- |
1 |
10-129902983-A-ATT |
c.7120_7121insAA |
p.L2374* |
Nonsense |
13/15 |
- |
1 |
10-129902983-A-C |
c.7121T>G |
p.L2374* |
Nonsense |
13/15 |
- |
3 |
10-129902983-A-T |
c.7121T>A |
p.L2374* |
Nonsense |
13/15 |
- |
3 |
10-129902985-A-G |
c.7119T>C |
p.F2373= |
Synonymous |
13/15 |
- |
1 |
10-129902986-A-G |
c.7118T>C |
p.F2373S |
Missense |
13/15 |
- |
1 |
10-129902982-TA-T |
c.7121del |
p.L2374* |
Frameshift |
13/15 |
- |
1 |
10-129902999-C-T |
c.7105G>A |
p.V2369I |
Missense |
13/15 |
- |
4 |
10-129903000-G-A |
c.7104C>T |
p.D2368= |
Synonymous |
13/15 |
- |
2 |
10-129903003-T-C |
c.7101A>G |
p.A2367= |
Synonymous |
13/15 |
- |
1 |
10-129903012-G-A |
c.7092C>T |
p.L2364= |
Synonymous |
13/15 |
- |
1 |
10-129903012-G-C |
c.7092C>G |
p.L2364= |
Synonymous |
13/15 |
- |
1 |
10-129903012-G-T |
c.7092C>A |
p.L2364= |
Synonymous |
13/15 |
- |
1 |
10-129903014-G-A |
c.7090C>T |
p.L2364F |
Missense |
13/15 |
- |
1 |
10-129903015-G-A |
c.7089C>T |
p.N2363= |
Synonymous |
13/15 |
- |
2 |
10-129903016-T-C |
c.7088A>G |
p.N2363S |
Missense |
13/15 |
- |
33 |
10-129903019-C-A |
c.7085G>T |
p.R2362I |
Missense |
13/15 |
- |
1 |
10-129903027-C-G |
c.7077G>C |
p.R2359= |
Synonymous |
13/15 |
- |
1 |
10-129903028-C-A |
c.7076G>T |
p.R2359L |
Missense |
13/15 |
- |
1 |
10-129903028-C-T |
c.7076G>A |
p.R2359Q |
Missense |
13/15 |
- |
2 |
10-129903029-G-A |
c.7075C>T |
p.R2359W |
Missense |
13/15 |
- |
4 |
10-129903040-C-T |
c.7064G>A |
p.S2355N |
Missense |
13/15 |
- |
1 |
10-129903043-G-C |
c.7061C>G |
p.A2354G |
Missense |
13/15 |
- |
1 |
10-129903047-G-T |
c.7057C>A |
p.P2353T |
Missense |
13/15 |
- |
1 |
10-129903052-T-C |
c.7052A>G |
p.D2351G |
Missense |
13/15 |
- |
1 |
10-129903056-C-A |
c.7048G>T |
p.V2350L |
Missense |
13/15 |
- |
1 |
10-129903056-C-G |
c.7048G>C |
p.V2350L |
Missense |
13/15 |
- |
1 |
10-129903058-G-T |
c.7046C>A |
p.P2349Q |
Missense |
13/15 |
- |
1 |
10-129903062-C-G |
c.7042G>C |
p.D2348H |
Missense |
13/15 |
- |
1 |
10-129903064-G-A |
c.7040C>T |
p.P2347L |
Missense |
13/15 |
- |
4 |
10-129903065-G-A |
c.7039C>T |
p.P2347S |
Missense |
13/15 |
- |
2 |
10-129903069-T-A |
c.7035A>T |
p.P2345= |
Synonymous |
13/15 |
- |
1 |
10-129903069-T-C |
c.7035A>G |
p.P2345= |
Synonymous |
13/15 |
- |
1 |
10-129903069-T-G |
c.7035A>C |
p.P2345= |
Synonymous |
13/15 |
- |
1 |
10-129903069-TG-AT |
c.7034_7035delinsAT |
p.P2345H |
Missense |
13/15 |
- |
2 |
10-129903071-G-C |
c.7033C>G |
p.P2345A |
Missense |
13/15 |
- |
1 |
10-129903072-A-C |
c.7032T>G |
p.S2344= |
Synonymous |
13/15 |
- |
1 |
10-129903072-A-G |
c.7032T>C |
p.S2344= |
Synonymous |
13/15 |
- |
1 |
10-129903072-A-T |
c.7032T>A |
p.S2344= |
Synonymous |
13/15 |
- |
1 |
10-129903073-G-A |
c.7031C>T |
p.S2344F |
Missense |
13/15 |
- |
1 |
10-129903076-T-A |
c.7028A>T |
p.K2343I |
Missense |
13/15 |
- |
1 |
10-129903076-T-C |
c.7028A>G |
p.K2343R |
Missense |
13/15 |
- |
3 |
10-129903077-T-C |
c.7027A>G |
p.K2343E |
Missense |
13/15 |
- |
1 |
10-129903082-G-A |
c.7022C>T |
p.A2341V |
Missense |
13/15 |
- |
2 |
10-129903086-T-A |
c.7018A>T |
p.I2340L |
Missense |
13/15 |
- |
1 |
10-129903091-G-A |
c.7013C>T |
p.T2338I |
Missense |
13/15 |
- |
1 |
10-129903094-G-T |
c.7010C>A |
p.T2337N |
Missense |
13/15 |
- |
13 |
10-129903102-A-G |
c.7002T>C |
p.D2334= |
Synonymous |
13/15 |
- |
2 |
10-129903104-C-G |
c.7000G>C |
p.D2334H |
Missense |
13/15 |
- |
2 |
10-129903108-C-A |
c.6996G>T |
p.T2332= |
Synonymous |
13/15 |
- |
1 |
10-129903109-G-A |
c.6995C>T |
p.T2332M |
Missense |
13/15 |
- |
6 |
10-129903116-T-A |
c.6988A>T |
p.K2330* |
Nonsense |
13/15 |
- |
4 |
10-129903117-G-C |
c.6987C>G |
p.D2329E |
Missense |
13/15 |
- |
1 |
10-129903120-AG-CA |
c.6983_6984delinsTG |
p.T2328M |
Missense |
13/15 |
- |
1 |
10-129903123-G-T |
c.6981C>A |
p.G2327= |
Synonymous |
13/15 |
- |
1 |
10-129903132-C-T |
c.6972G>A |
p.Q2324= |
Synonymous |
13/15 |
- |
1 |
10-129903135-G-T |
c.6969C>A |
p.F2323L |
Missense |
13/15 |
- |
1 |
10-129903140-G-A |
c.6964C>T |
p.L2322F |
Missense |
13/15 |
- |
1 |
10-129903141-C-A |
c.6963G>T |
p.E2321D |
Missense |
13/15 |
- |
1 |
10-129903143-C-A |
c.6961G>T |
p.E2321* |
Nonsense |
13/15 |
- |
1 |
10-129903151-C-T |
c.6953G>A |
p.G2318D |
Missense |
13/15 |
- |
2 |
10-129903152-C-A |
c.6952G>T |
p.G2318C |
Missense |
13/15 |
- |
5 |
10-129903153-A-C |
c.6951T>G |
p.A2317= |
Synonymous |
13/15 |
- |
1 |
10-129903153-A-G |
c.6951T>C |
p.A2317= |
Synonymous |
13/15 |
- |
1 |
10-129903153-A-T |
c.6951T>A |
p.A2317= |
Synonymous |
13/15 |
- |
1 |
10-129903154-G-A |
c.6950C>T |
p.A2317V |
Missense |
13/15 |
- |
2 |
10-129903159-G-A |
c.6945C>T |
p.D2315= |
Synonymous |
13/15 |
- |
1 |
10-129903161-C-A |
c.6943G>T |
p.D2315Y |
Missense |
13/15 |
- |
3 |
10-129903161-C-T |
c.6943G>A |
p.D2315N |
Missense |
13/15 |
- |
2 |
10-129903163-T-C |
c.6941A>G |
p.E2314G |
Missense |
13/15 |
- |
3 |
10-129903164-C-G |
c.6940G>C |
p.E2314Q |
Missense |
13/15 |
- |
3 |
10-129903165-T-C |
c.6939A>G |
p.L2313= |
Synonymous |
13/15 |
- |
1 |
10-129903169-G-A |
c.6935C>T |
p.A2312V |
Missense |
13/15 |
- |
1 |
10-129903170-C-T |
c.6934G>A |
p.A2312T |
Missense |
13/15 |
- |
1 |
10-129903176-C-A |
c.6928G>T |
p.A2310S |
Missense |
13/15 |
- |
2 |
10-129903179-T-C |
c.6925A>G |
p.K2309E |
Missense |
13/15 |
- |
1 |
10-129903181-T-C |
c.6923A>G |
p.E2308G |
Missense |
13/15 |
- |
2 |
10-129903183-C-T |
c.6921G>A |
p.K2307= |
Synonymous |
13/15 |
- |
4 |
10-129903187-GG-AA |
c.6916_6917delinsTT |
p.P2306F |
Missense |
13/15 |
- |
1 |
10-129903188-G-A |
c.6916C>T |
p.P2306S |
Missense |
13/15 |
- |
1 |
10-129903190-GT-CA |
c.6913_6914delinsTG |
p.T2305C |
Missense |
13/15 |
- |
2 |
10-129903199-C-T |
c.6905G>A |
p.W2302* |
Nonsense |
13/15 |
- |
1 |
10-129903200-A-G |
c.6904T>C |
p.W2302R |
Missense |
13/15 |
- |
4 |
10-129903200-A-T |
c.6904T>A |
p.W2302R |
Missense |
13/15 |
- |
2 |
10-129903202-C-G |
c.6902G>C |
p.R2301T |
Missense |
13/15 |
- |
1 |
10-129903212-C-G |
c.6892G>C |
p.G2298R |
Missense |
13/15 |
- |
1 |
10-129903216-GT-G |
c.6888del |
p.L2296Ffs*18 |
Frameshift |
13/15 |
- |
1 |
10-129903216-T-C |
c.6888A>G |
p.L2296= |
Synonymous |
13/15 |
- |
2 |
10-129903218-A-C |
c.6886T>G |
p.L2296V |
Missense |
13/15 |
- |
1 |
10-129903219-A-G |
c.6885T>C |
p.N2295= |
Synonymous |
13/15 |
- |
2 |
10-129903220-T-C |
c.6884A>G |
p.N2295S |
Missense |
13/15 |
- |
7 |
10-129903221-T-G |
c.6883A>C |
p.N2295H |
Missense |
13/15 |
- |
3 |
10-129903222-T-A |
c.6882A>T |
p.G2294= |
Synonymous |
13/15 |
- |
1 |
10-129903222-T-C |
c.6882A>G |
p.G2294= |
Synonymous |
13/15 |
- |
1 |
10-129903222-T-G |
c.6882A>C |
p.G2294= |
Synonymous |
13/15 |
- |
1 |
10-129903222-T-TA |
c.6881_6882insT |
p.N2295Kfs*13 |
Frameshift |
13/15 |
- |
1 |
10-129903223-C-G |
c.6881G>C |
p.G2294A |
Missense |
13/15 |
- |
1 |
10-129903225-T-C |
c.6879A>G |
p.P2293= |
Synonymous |
13/15 |
- |
2 |
10-129903230-G-A |
c.6874C>T |
p.L2292= |
Synonymous |
13/15 |
- |
1 |
10-129903232-T-G |
c.6872A>C |
p.D2291A |
Missense |
13/15 |
- |
1 |
10-129903234-C-A |
c.6870G>T |
p.L2290F |
Missense |
13/15 |
- |
2 |
10-129903234-C-G |
c.6870G>C |
p.L2290F |
Missense |
13/15 |
- |
1 |
10-129903235-A-G |
c.6869T>C |
p.L2290S |
Missense |
13/15 |
- |
1 |
10-129903234-C-T |
c.6870G>A |
p.L2290= |
Synonymous |
13/15 |
- |
1 |
10-129903236-A-G |
c.6868T>C |
p.L2290= |
Synonymous |
13/15 |
- |
1 |
10-129903242-G-A |
c.6862C>T |
p.Q2288* |
Nonsense |
13/15 |
- |
3 |
10-129903244-A-G |
c.6860T>C |
p.V2287A |
Missense |
13/15 |
- |
1 |
10-129903248-G-A |
c.6856C>T |
p.P2286S |
Missense |
13/15 |
- |
1 |
10-129903254-C-T |
c.6850G>A |
p.G2284R |
Missense |
13/15 |
- |
1 |
10-129903257-T-C |
c.6847A>G |
p.M2283V |
Missense |
13/15 |
- |
1 |
10-129903261-T-C |
c.6843A>G |
p.A2281= |
Synonymous |
13/15 |
- |
1 |
10-129903267-TC-T |
c.6837del |
p.M2279Ifs*35 |
Frameshift |
13/15 |
- |
2 |
10-129903282-A-G |
c.6822T>C |
p.G2274= |
Synonymous |
13/15 |
- |
1 |
10-129903284-C-A |
c.6820G>T |
p.G2274C |
Missense |
13/15 |
- |
1 |
10-129903284-C-G |
c.6820G>C |
p.G2274R |
Missense |
13/15 |
- |
1 |
10-129903283-CCT-C |
c.6819_6820del |
p.G2274* |
Frameshift |
13/15 |
- |
2 |
10-129903287-C-A |
c.6817G>T |
p.G2273* |
Nonsense |
13/15 |
- |
2 |
10-129903296-T-C |
c.6808A>G |
p.K2270E |
Missense |
13/15 |
- |
1 |
10-129903299-G-T |
c.6805C>A |
p.P2269T |
Missense |
13/15 |
- |
1 |
10-129903301-G-T |
c.6803C>A |
p.T2268K |
Missense |
13/15 |
- |
5 |
10-129903302-T-C |
c.6802A>G |
p.T2268A |
Missense |
13/15 |
- |
1 |
10-129903309-A-G |
c.6795T>C |
p.A2265= |
Synonymous |
13/15 |
- |
1 |
10-129903316-C-T |
c.6788G>A |
p.G2263E |
Missense |
13/15 |
- |
1 |
10-129903317-C-A |
c.6787G>T |
p.G2263W |
Missense |
13/15 |
- |
2 |
10-129903319-A-G |
c.6785T>C |
p.V2262A |
Missense |
13/15 |
- |
2 |
10-129903320-C-A |
c.6784G>T |
p.V2262L |
Missense |
13/15 |
- |
1 |
10-129903322-G-A |
c.6782C>T |
p.S2261L |
Missense |
13/15 |
- |
5 |
10-129903329-T-C |
c.6775A>G |
p.T2259A |
Missense |
13/15 |
- |
1 |
10-129903329-T-G |
c.6775A>C |
p.T2259P |
Missense |
13/15 |
- |
1 |
10-129903331-C-T |
c.6773G>A |
p.R2258Q |
Missense |
13/15 |
- |
2 |
10-129903332-G-A |
c.6772C>T |
p.R2258* |
Nonsense |
13/15 |
- |
5 |
10-129903332-G-T |
c.6772C>A |
p.R2258= |
Synonymous |
13/15 |
- |
1 |
10-129903333-T-C |
c.6771A>G |
p.K2257= |
Synonymous |
13/15 |
- |
1 |
10-129903345-T-G |
c.6759A>C |
p.L2253F |
Missense |
13/15 |
- |
1 |
10-129903348-G-A |
c.6756C>T |
p.S2252= |
Synonymous |
13/15 |
- |
1 |
10-129903348-G-C |
c.6756C>G |
p.S2252= |
Synonymous |
13/15 |
- |
1 |
10-129903348-G-T |
c.6756C>A |
p.S2252= |
Synonymous |
13/15 |
- |
1 |
10-129903349-G-A |
c.6755C>T |
p.S2252F |
Missense |
13/15 |
- |
1 |
10-129903354-T-A |
c.6750A>T |
p.E2250D |
Missense |
13/15 |
- |
1 |
10-129903354-T-G |
c.6750A>C |
p.E2250D |
Missense |
13/15 |
- |
1 |
10-129903359-C-A |
c.6745G>T |
p.E2249* |
Nonsense |
13/15 |
- |
2 |
10-129903359-C-CA |
c.6744_6745insT |
p.E2249* |
Nonsense |
13/15 |
- |
1 |
10-129903362-C-T |
c.6742G>A |
p.V2248I |
Missense |
13/15 |
- |
1 |
10-129903363-G-A |
c.6741C>T |
p.D2247= |
Synonymous |
13/15 |
- |
1 |
10-129903368-C-T |
c.6736G>A |
p.A2246T |
Missense |
13/15 |
- |
1 |
10-129903377-G-T |
c.6727C>A |
p.L2243I |
Missense |
13/15 |
- |
2 |
10-129903379-C-T |
c.6725G>A |
p.S2242N |
Missense |
13/15 |
- |
4 |
10-129903382-C-A |
c.6722G>T |
p.R2241I |
Missense |
13/15 |
- |
1 |
10-129903384-C-A |
c.6720G>T |
p.K2240N |
Missense |
13/15 |
- |
1 |
10-129903384-C-G |
c.6720G>C |
p.K2240N |
Missense |
13/15 |
- |
1 |
10-129903384-C-T |
c.6720G>A |
p.K2240= |
Synonymous |
13/15 |
- |
3 |
10-129903387-G-A |
c.6717C>T |
p.S2239= |
Synonymous |
13/15 |
- |
3 |
10-129903387-G-C |
c.6717C>G |
p.S2239= |
Synonymous |
13/15 |
- |
1 |
10-129903388-G-A |
c.6716C>T |
p.S2239F |
Missense |
13/15 |
- |
1 |
10-129903390-C-T |
c.6714G>A |
p.Q2238= |
Synonymous |
13/15 |
- |
2 |
10-129903399-G-A |
c.6705C>T |
p.F2235= |
Synonymous |
13/15 |
- |
1 |
10-129903404-T-C |
c.6700A>G |
p.I2234V |
Missense |
13/15 |
- |
1 |
10-129903411-G-A |
c.6693C>T |
p.T2231= |
Synonymous |
13/15 |
- |
1 |
10-129903411-G-C |
c.6693C>G |
p.T2231= |
Synonymous |
13/15 |
- |
1 |
10-129903411-G-T |
c.6693C>A |
p.T2231= |
Synonymous |
13/15 |
- |
1 |
10-129903413-T-C |
c.6691A>G |
p.T2231A |
Missense |
13/15 |
- |
4 |
10-129903414-ACC-A |
c.6688_6689del |
p.G2230Yfs*45 |
Frameshift |
13/15 |
- |
1 |
10-129903416-C-T |
c.6688G>A |
p.G2230S |
Missense |
13/15 |
- |
1 |
10-129903417-C-CAGAGAAAT |
c.6686_6687insATTTCTCT |
p.G2230Ffs*22 |
Frameshift |
13/15 |
- |
1 |
10-129903419-C-T |
c.6685G>A |
p.V2229M |
Missense |
13/15 |
- |
1 |
10-129903422-G-GC |
c.6681_6682insG |
p.P2228Afs*48 |
Frameshift |
13/15 |
- |
1 |
10-129903424-T-G |
c.6680A>C |
p.D2227A |
Missense |
13/15 |
- |
1 |
10-129903425-C-T |
c.6679G>A |
p.D2227N |
Missense |
13/15 |
- |
1 |
10-129903428-G-GA |
c.6675_6676insT |
p.P2226Sfs*50 |
Frameshift |
13/15 |
- |
1 |
10-129903429-T-A |
c.6675A>T |
p.Q2225H |
Missense |
13/15 |
- |
1 |
10-129903431-G-GTAAAA |
c.6672_6673insTTTTA |
p.Q2225Ffs*26 |
Frameshift |
13/15 |
- |
1 |
10-129903434-G-GTAC |
c.6669_6670insGTA |
p.S2223_P2224insV |
InFrameInsertion |
13/15 |
- |
1 |
10-129903436-G-GCC |
c.6667_6668insGG |
p.S2223Wfs*27 |
Frameshift |
13/15 |
- |
1 |
10-129903436-G-T |
c.6668C>A |
p.S2223Y |
Missense |
13/15 |
- |
1 |
10-129903438-AT-A |
c.6666del |
p.R2222Sfs*27 |
Frameshift |
13/15 |
- |
1 |
10-129903438-T-A |
c.6666A>T |
p.R2222S |
Missense |
13/15 |
- |
1 |
10-129903439-C-A |
c.6665G>T |
p.R2222I |
Missense |
13/15 |
- |
3 |
10-129903439-C-T |
c.6665G>A |
p.R2222K |
Missense |
13/15 |
- |
7 |
10-129903440-T-TTTGAA |
c.6663_6664insTTCAA |
p.R2222Ffs*29 |
Frameshift |
13/15 |
- |
1 |
10-129903454-G-A |
c.6650C>T |
p.T2217I |
Missense |
13/15 |
- |
3 |
10-129903464-C-A |
c.6640G>T |
p.E2214* |
Nonsense |
13/15 |
- |
2 |
10-129903465-A-G |
c.6639T>C |
p.H2213= |
Synonymous |
13/15 |
- |
9 |
10-129903467-G-C |
c.6637C>G |
p.H2213D |
Missense |
13/15 |
- |
4 |
10-129903470-T-C |
c.6634A>G |
p.T2212A |
Missense |
13/15 |
- |
3 |
10-129903471-C-A |
c.6633G>T |
p.T2211= |
Synonymous |
13/15 |
- |
1 |
10-129903471-C-G |
c.6633G>C |
p.T2211= |
Synonymous |
13/15 |
- |
1 |
10-129903471-C-T |
c.6633G>A |
p.T2211= |
Synonymous |
13/15 |
- |
2 |
10-129903472-G-A |
c.6632C>T |
p.T2211M |
Missense |
13/15 |
- |
1 |
10-129903481-T-C |
c.6623A>G |
p.D2208G |
Missense |
13/15 |
- |
2 |
10-129903482-C-A |
c.6622G>T |
p.D2208Y |
Missense |
13/15 |
- |
2 |
10-129903484-G-T |
c.6620C>A |
p.T2207N |
Missense |
13/15 |
- |
2 |
10-129903487-C-G |
c.6617G>C |
p.C2206S |
Missense |
13/15 |
- |
1 |
10-129903489-T-A |
c.6615A>T |
p.I2205= |
Synonymous |
13/15 |
- |
1 |
10-129903489-T-G |
c.6615A>C |
p.I2205= |
Synonymous |
13/15 |
- |
1 |
10-129903491-T-C |
c.6613A>G |
p.I2205V |
Missense |
13/15 |
- |
1 |
10-129903494-G-A |
c.6610C>T |
p.P2204S |
Missense |
13/15 |
- |
1 |
10-129903494-G-C |
c.6610C>G |
p.P2204A |
Missense |
13/15 |
- |
3 |
10-129903501-G-A |
c.6603C>T |
p.F2201= |
Synonymous |
13/15 |
- |
1 |
10-129903506-G-A |
c.6598C>T |
p.L2200F |
Missense |
13/15 |
- |
6 |
10-129903510-T-A |
c.6594A>T |
p.K2198N |
Missense |
13/15 |
- |
2 |
10-129903513-C-A |
c.6591G>T |
p.L2197F |
Missense |
13/15 |
- |
1 |
10-129903513-C-G |
c.6591G>C |
p.L2197F |
Missense |
13/15 |
- |
1 |
10-129903515-A-C |
c.6589T>G |
p.L2197V |
Missense |
13/15 |
- |
4 |
10-129903520-G-C |
c.6584C>G |
p.A2195G |
Missense |
13/15 |
- |
1 |
10-129903521-C-T |
c.6583G>A |
p.A2195T |
Missense |
13/15 |
- |
1 |
10-129903522-C-A |
c.6582G>T |
p.L2194F |
Missense |
13/15 |
- |
1 |
10-129903522-C-G |
c.6582G>C |
p.L2194F |
Missense |
13/15 |
- |
1 |
10-129903524-A-C |
c.6580T>G |
p.L2194V |
Missense |
13/15 |
- |
1 |
10-129903524-A-G |
c.6580T>C |
p.L2194= |
Synonymous |
13/15 |
- |
1 |
10-129903525-G-C |
c.6579C>G |
p.D2193E |
Missense |
13/15 |
- |
1 |
10-129903525-GTCT-G |
c.6576_6578del |
p.E2192del |
InFrameDeletion |
13/15 |
- |
1 |
10-129903530-C-T |
c.6574G>A |
p.E2192K |
Missense |
13/15 |
- |
2 |
10-129903534-G-A |
c.6570C>T |
p.P2190= |
Synonymous |
13/15 |
- |
2 |
10-129903535-G-A |
c.6569C>T |
p.P2190L |
Missense |
13/15 |
- |
1 |
10-129903532-AG-A |
c.6571del |
p.L2191* |
Frameshift |
13/15 |
- |
1 |
10-129903541-G-C |
c.6563C>G |
p.A2188G |
Missense |
13/15 |
- |
1 |
10-129903542-C-A |
c.6562G>T |
p.A2188S |
Missense |
13/15 |
- |
2 |
10-129903547-C-G |
c.6557G>C |
p.G2186A |
Missense |
13/15 |
- |
1 |
10-129903547-C-T |
c.6557G>A |
p.G2186E |
Missense |
13/15 |
- |
2 |
10-129903549-C-T |
c.6555G>A |
p.K2185= |
Synonymous |
13/15 |
- |
1 |
10-129903554-G-C |
c.6550C>G |
p.P2184A |
Missense |
13/15 |
- |
1 |
10-129903563-G-A |
c.6541C>T |
p.P2181S |
Missense |
13/15 |
- |
1 |
10-129903564-C-T |
c.6540G>A |
p.Q2180= |
Synonymous |
13/15 |
- |
1 |
10-129903567-C-T |
c.6537G>A |
p.R2179= |
Synonymous |
13/15 |
- |
1 |
10-129903570-C-A |
c.6534G>T |
p.K2178N |
Missense |
13/15 |
- |
1 |
10-129903570-C-G |
c.6534G>C |
p.K2178N |
Missense |
13/15 |
- |
1 |
10-129903579-A-C |
c.6525T>G |
p.T2175= |
Synonymous |
13/15 |
- |
1 |
10-129903579-A-G |
c.6525T>C |
p.T2175= |
Synonymous |
13/15 |
- |
1 |
10-129903579-A-T |
c.6525T>A |
p.T2175= |
Synonymous |
13/15 |
- |
1 |
10-129903590-C-A |
c.6514G>T |
p.A2172S |
Missense |
13/15 |
- |
1 |
10-129903591-T-A |
c.6513A>T |
p.A2171= |
Synonymous |
13/15 |
- |
1 |
10-129903591-T-C |
c.6513A>G |
p.A2171= |
Synonymous |
13/15 |
- |
1 |
10-129903591-T-G |
c.6513A>C |
p.A2171= |
Synonymous |
13/15 |
- |
1 |
10-129903592-G-A |
c.6512C>T |
p.A2171V |
Missense |
13/15 |
- |
11 |
10-129903592-G-T |
c.6512C>A |
p.A2171E |
Missense |
13/15 |
- |
1 |
10-129903599-C-T |
c.6505G>A |
p.D2169N |
Missense |
13/15 |
- |
3 |
10-129903606-C-T |
c.6498G>A |
p.Q2166= |
Synonymous |
13/15 |
- |
1 |
10-129903607-T-A |
c.6497A>T |
p.Q2166L |
Missense |
13/15 |
- |
1 |
10-129903612-T-A |
c.6492A>T |
p.A2164= |
Synonymous |
13/15 |
- |
1 |
10-129903612-T-C |
c.6492A>G |
p.A2164= |
Synonymous |
13/15 |
- |
1 |
10-129903612-T-G |
c.6492A>C |
p.A2164= |
Synonymous |
13/15 |
- |
1 |
10-129903614-C-T |
c.6490G>A |
p.A2164T |
Missense |
13/15 |
- |
2 |
10-129903620-C-T |
c.6484G>A |
p.E2162K |
Missense |
13/15 |
- |
1 |
10-129903621-C-T |
c.6483G>A |
p.R2161= |
Synonymous |
13/15 |
- |
3 |
10-129903623-T-G |
c.6481A>C |
p.R2161= |
Synonymous |
13/15 |
- |
1 |
10-129903622-C-A |
c.6482G>T |
p.R2161M |
Missense |
13/15 |
- |
1 |
10-129903622-C-T |
c.6482G>A |
p.R2161K |
Missense |
13/15 |
- |
2 |
10-129903629-C-T |
c.6475G>A |
p.V2159M |
Missense |
13/15 |
- |
2 |
10-129903630-G-A |
c.6474C>T |
p.N2158= |
Synonymous |
13/15 |
- |
1 |
10-129903631-T-G |
c.6473A>C |
p.N2158T |
Missense |
13/15 |
- |
4 |
10-129903635-T-C |
c.6469A>G |
p.I2157V |
Missense |
13/15 |
- |
1 |
10-129903636-G-A |
c.6468C>T |
p.G2156= |
Synonymous |
13/15 |
- |
1 |
10-129903644-C-G |
c.6460G>C |
p.D2154H |
Missense |
13/15 |
- |
1 |
10-129903655-G-A |
c.6449C>T |
p.P2150L |
Missense |
13/15 |
- |
1 |
10-129903656-G-A |
c.6448C>T |
p.P2150S |
Missense |
13/15 |
- |
1 |
10-129903660-T-A |
c.6444A>T |
p.K2148N |
Missense |
13/15 |
- |
1 |
10-129903660-T-G |
c.6444A>C |
p.K2148N |
Missense |
13/15 |
- |
1 |
10-129903663-G-A |
c.6441C>T |
p.D2147= |
Synonymous |
13/15 |
- |
1 |
10-129903663-G-C |
c.6441C>G |
p.D2147E |
Missense |
13/15 |
- |
1 |
10-129903663-G-T |
c.6441C>A |
p.D2147E |
Missense |
13/15 |
- |
1 |
10-129903665-C-G |
c.6439G>C |
p.D2147H |
Missense |
13/15 |
- |
1 |
10-129903667-G-C |
c.6437C>G |
p.T2146R |
Missense |
13/15 |
- |
1 |
10-129903672-T-A |
c.6432A>T |
p.T2144= |
Synonymous |
13/15 |
- |
1 |
10-129903672-T-C |
c.6432A>G |
p.T2144= |
Synonymous |
13/15 |
- |
1 |
10-129903672-T-G |
c.6432A>C |
p.T2144= |
Synonymous |
13/15 |
- |
1 |
10-129903673-G-GTTGTCTCACCGC |
c.6430_6431insGCGGTGAGACAA |
p.T2143_T2144insSGET |
InFrameInsertion |
13/15 |
- |
1 |
10-129903675-G-GT |
c.6428_6429insA |
p.T2144Hfs*10 |
Frameshift |
13/15 |
- |
1 |
10-129903676-G-GT |
c.6427dup |
p.T2143Nfs*11 |
Frameshift |
13/15 |
- |
1 |
10-129903678-C-A |
c.6426G>T |
p.Q2142H |
Missense |
13/15 |
- |
1 |
10-129903678-C-G |
c.6426G>C |
p.Q2142H |
Missense |
13/15 |
- |
2 |
10-129903680-G-C |
c.6424C>G |
p.Q2142E |
Missense |
13/15 |
- |
1 |
10-129903682-G-T |
c.6422C>A |
p.T2141K |
Missense |
13/15 |
- |
1 |
10-129903678-C-CTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTG |
c.6425_6426insCACACACACACACACACAAACACACACACACACA |
p.Q2142Hfs*23 |
Frameshift |
13/15 |
- |
1 |
10-129903685-A-C |
c.6419T>G |
p.L2140R |
Missense |
13/15 |
- |
1 |
10-129903693-C-A |
c.6411G>T |
p.L2137= |
Synonymous |
13/15 |
- |
1 |
10-129903693-C-G |
c.6411G>C |
p.L2137= |
Synonymous |
13/15 |
- |
2 |
10-129903693-C-T |
c.6411G>A |
p.L2137= |
Synonymous |
13/15 |
- |
1 |
10-129903695-G-A |
c.6409C>T |
p.L2137= |
Synonymous |
13/15 |
- |
1 |
10-129903695-G-T |
c.6409C>A |
p.L2137M |
Missense |
13/15 |
- |
1 |
10-129903697-G-C |
c.6407C>G |
p.A2136G |
Missense |
13/15 |
- |
1 |
10-129903702-G-A |
c.6402C>T |
p.L2134= |
Synonymous |
13/15 |
- |
1 |
10-129903702-G-C |
c.6402C>G |
p.L2134= |
Synonymous |
13/15 |
- |
1 |
10-129903702-G-T |
c.6402C>A |
p.L2134= |
Synonymous |
13/15 |
- |
1 |
10-129903710-C-T |
c.6394G>A |
p.E2132K |
Missense |
13/15 |
- |
1 |
10-129903711-C-A |
c.6393G>T |
p.V2131= |
Synonymous |
13/15 |
- |
1 |
10-129903718-TC-T |
c.6385del |
p.D2129Ifs*2 |
Frameshift |
13/15 |
- |
2 |
10-129903722-T-C |
c.6382A>G |
p.R2128G |
Missense |
13/15 |
- |
4 |
10-129903742-G-A |
c.6362C>T |
p.P2121L |
Missense |
13/15 |
- |
1 |
10-129903745-CG-GC |
c.6358_6359delinsGC |
p.R2120A |
Missense |
13/15 |
- |
1 |
10-129903746-G-A |
c.6358C>T |
p.R2120W |
Missense |
13/15 |
- |
4 |
10-129903750-C-A |
c.6354G>T |
p.R2118S |
Missense |
13/15 |
- |
1 |
10-129903750-C-G |
c.6354G>C |
p.R2118S |
Missense |
13/15 |
- |
1 |
10-129903753-T-A |
c.6351A>T |
p.T2117= |
Synonymous |
13/15 |
- |
1 |
10-129903754-G-A |
c.6350C>T |
p.T2117I |
Missense |
13/15 |
- |
2 |
10-129903755-T-C |
c.6349A>G |
p.T2117A |
Missense |
13/15 |
- |
1 |
10-129903759-TG-CA |
c.6344_6345inv |
p.T2115M |
Missense |
13/15 |
- |
1 |
10-129903763-G-A |
c.6341C>T |
p.P2114L |
Missense |
13/15 |
- |
4 |
10-129903764-G-A |
c.6340C>T |
p.P2114S |
Missense |
13/15 |
- |
1 |
10-129903769-T-C |
c.6335A>G |
p.D2112G |
Missense |
13/15 |
- |
1 |
10-129903773-T-C |
c.6331A>G |
p.M2111V |
Missense |
13/15 |
- |
3 |
10-129903775-G-A |
c.6329C>T |
p.S2110L |
Missense |
13/15 |
- |
4 |
10-129903778-T-A |
c.6326A>T |
p.E2109V |
Missense |
13/15 |
- |
1 |
10-129903781-G-A |
c.6323C>T |
p.P2108L |
Missense |
13/15 |
- |
1 |
10-129903782-G-A |
c.6322C>T |
p.P2108S |
Missense |
13/15 |
- |
1 |
10-129903784-G-A |
c.6320C>T |
p.P2107L |
Missense |
13/15 |
- |
2 |
10-129903788-G-A |
c.6316C>T |
p.P2106S |
Missense |
13/15 |
- |
5 |
10-129903793-T-C |
c.6311A>G |
p.K2104R |
Missense |
13/15 |
- |
1 |
10-129903796-C-T |
c.6308G>A |
p.C2103Y |
Missense |
13/15 |
- |
1 |
10-129903799-G-A |
c.6305C>T |
p.A2102V |
Missense |
13/15 |
- |
1 |
10-129903800-C-A |
c.6304G>T |
p.A2102S |
Missense |
13/15 |
- |
2 |
10-129903801-T-A |
c.6303A>T |
p.I2101= |
Synonymous |
13/15 |
- |
4 |
10-129903801-T-G |
c.6303A>C |
p.I2101= |
Synonymous |
13/15 |
- |
2 |
10-129903802-A-C |
c.6302T>G |
p.I2101R |
Missense |
13/15 |
- |
8 |
10-129903802-A-G |
c.6302T>C |
p.I2101T |
Missense |
13/15 |
- |
29 |
10-129903806-T-C |
c.6298A>G |
p.K2100E |
Missense |
13/15 |
- |
5 |
10-129903814-T-C |
c.6290A>G |
p.K2097R |
Missense |
13/15 |
- |
1 |
10-129903818-C-G |
c.6286G>C |
p.D2096H |
Missense |
13/15 |
- |
1 |
10-129903826-G-A |
c.6278C>T |
p.T2093I |
Missense |
13/15 |
- |
1 |
10-129903827-T-C |
c.6277A>G |
p.T2093A |
Missense |
13/15 |
- |
1 |
10-129903831-T-C |
c.6273A>G |
p.E2091= |
Synonymous |
13/15 |
- |
1 |
10-129903833-C-T |
c.6271G>A |
p.E2091K |
Missense |
13/15 |
- |
1 |
10-129903836-C-T |
c.6268G>A |
p.E2090K |
Missense |
13/15 |
- |
1 |
10-129903847-G-C |
c.6257C>G |
p.P2086R |
Missense |
13/15 |
- |
1 |
10-129903851-T-C |
c.6253A>G |
p.T2085A |
Missense |
13/15 |
- |
1 |
10-129903852-C-A |
c.6252G>T |
p.Q2084H |
Missense |
13/15 |
- |
1 |
10-129903852-C-G |
c.6252G>C |
p.Q2084H |
Missense |
13/15 |
- |
5 |
10-129903853-T-C |
c.6251A>G |
p.Q2084R |
Missense |
13/15 |
- |
1 |
10-129903853-T-G |
c.6251A>C |
p.Q2084P |
Missense |
13/15 |
- |
6 |
10-129903856-A-G |
c.6248T>C |
p.F2083S |
Missense |
13/15 |
- |
1 |
10-129903863-C-T |
c.6241G>A |
p.E2081K |
Missense |
13/15 |
- |
1 |
10-129903870-G-A |
c.6234C>T |
p.G2078= |
Synonymous |
13/15 |
- |
2 |
10-129903873-G-A |
c.6231C>T |
p.A2077= |
Synonymous |
13/15 |
- |
1 |
10-129903880-T-C |
c.6224A>G |
p.D2075G |
Missense |
13/15 |
- |
1 |
10-129903884-C-T |
c.6220G>A |
p.E2074K |
Missense |
13/15 |
- |
2 |
10-129903889-G-C |
c.6215C>G |
p.S2072* |
Nonsense |
13/15 |
- |
1 |
10-129903889-G-T |
c.6215C>A |
p.S2072* |
Nonsense |
13/15 |
- |
1 |
10-129903899-C-G |
c.6205G>C |
p.E2069Q |
Missense |
13/15 |
- |
3 |
10-129903899-C-T |
c.6205G>A |
p.E2069K |
Missense |
13/15 |
- |
2 |
10-129903901-T-C |
c.6203A>G |
p.E2068G |
Missense |
13/15 |
- |
1 |
10-129903902-C-T |
c.6202G>A |
p.E2068K |
Missense |
13/15 |
- |
3 |
10-129903908-G-C |
c.6196C>G |
p.P2066A |
Missense |
13/15 |
- |
3 |
10-129903909-T-A |
c.6195A>T |
p.T2065= |
Synonymous |
13/15 |
- |
1 |
10-129903915-T-C |
c.6189A>G |
p.P2063= |
Synonymous |
13/15 |
- |
1 |
10-129903917-G-T |
c.6187C>A |
p.P2063T |
Missense |
13/15 |
- |
1 |
10-129903919-C-T |
c.6185G>A |
p.W2062* |
Nonsense |
13/15 |
- |
1 |
10-129903924-C-T |
c.6180G>A |
p.E2060= |
Synonymous |
13/15 |
- |
1 |
10-129903926-C-G |
c.6178G>C |
p.E2060Q |
Missense |
13/15 |
- |
1 |
10-129903931-CC-TT |
c.6172_6173delinsAA |
p.G2058K |
Missense |
13/15 |
- |
2 |
10-129903931-C-T |
c.6173G>A |
p.G2058E |
Missense |
13/15 |
- |
2 |
10-129903932-C-A |
c.6172G>T |
p.G2058W |
Missense |
13/15 |
- |
1 |
10-129903932-C-G |
c.6172G>C |
p.G2058R |
Missense |
13/15 |
- |
1 |
10-129903932-C-T |
c.6172G>A |
p.G2058R |
Missense |
13/15 |
- |
2 |
10-129903934-G-C |
c.6170C>G |
p.T2057S |
Missense |
13/15 |
- |
1 |
10-129903937-C-G |
c.6167G>C |
p.G2056A |
Missense |
13/15 |
- |
2 |
10-129903937-C-T |
c.6167G>A |
p.G2056E |
Missense |
13/15 |
- |
1 |
10-129903955-A-G |
c.6149T>C |
p.L2050P |
Missense |
13/15 |
- |
1 |
10-129903958-A-T |
c.6146T>A |
p.M2049K |
Missense |
13/15 |
- |
1 |
10-129903970-G-C |
c.6134C>G |
p.S2045C |
Missense |
13/15 |
- |
1 |
10-129903976-T-G |
c.6128A>C |
p.K2043T |
Missense |
13/15 |
- |
1 |
10-129903981-C-A |
c.6123G>T |
p.A2041= |
Synonymous |
13/15 |
- |
1 |
10-129903981-C-G |
c.6123G>C |
p.A2041= |
Synonymous |
13/15 |
- |
1 |
10-129903981-C-T |
c.6123G>A |
p.A2041= |
Synonymous |
13/15 |
- |
1 |
10-129903982-G-A |
c.6122C>T |
p.A2041V |
Missense |
13/15 |
- |
4 |
10-129903985-T-C |
c.6119A>G |
p.K2040R |
Missense |
13/15 |
- |
1 |
10-129903986-T-C |
c.6118A>G |
p.K2040E |
Missense |
13/15 |
- |
1 |
10-129903987-G-C |
c.6117C>G |
p.I2039M |
Missense |
13/15 |
- |
2 |
10-129903989-T-C |
c.6115A>G |
p.I2039V |
Missense |
13/15 |
- |
1 |
10-129903999-A-G |
c.6105T>C |
p.D2035= |
Synonymous |
13/15 |
- |
1 |
10-129904004-CCTGCTGTCTCTCTGTGTGTCTGTGTGGTCT-C |
c.6071_6100del |
p.K2024_G2034delinsR |
MultiAAMissense |
13/15 |
- |
1 |
10-129904007-C-T |
c.6097G>A |
p.A2033T |
Missense |
13/15 |
- |
2 |
10-129904009-G-C |
c.6095C>G |
p.T2032R |
Missense |
13/15 |
- |
1 |
10-129904014-T-A |
c.6090A>T |
p.R2030S |
Missense |
13/15 |
- |
3 |
10-129904014-T-G |
c.6090A>C |
p.R2030S |
Missense |
13/15 |
- |
2 |
10-129904017-G-A |
c.6087C>T |
p.H2029= |
Synonymous |
13/15 |
- |
1 |
10-129904023-C-A |
c.6081G>T |
p.Q2027H |
Missense |
13/15 |
- |
2 |
10-129904023-C-G |
c.6081G>C |
p.Q2027H |
Missense |
13/15 |
- |
2 |
10-129904029-G-A |
c.6075C>T |
p.T2025= |
Synonymous |
13/15 |
- |
3 |
10-129904036-C-T |
c.6068G>A |
p.G2023E |
Missense |
13/15 |
- |
1 |
10-129904042-G-A |
c.6062C>T |
p.T2021M |
Missense |
13/15 |
- |
1 |
10-129904042-G-T |
c.6062C>A |
p.T2021K |
Missense |
13/15 |
- |
1 |
10-129904043-T-A |
c.6061A>T |
p.T2021S |
Missense |
13/15 |
- |
1 |
10-129904044-C-G |
c.6060G>C |
p.Q2020H |
Missense |
13/15 |
- |
1 |
10-129904048-G-A |
c.6056C>T |
p.T2019I |
Missense |
13/15 |
- |
1 |
10-129904049-T-G |
c.6055A>C |
p.T2019P |
Missense |
13/15 |
- |
1 |
10-129904056-TGCCGACTGGTAGGACCTCTTCTTTCAC-T |
c.6022_6048del |
p.V2008_G2016del |
InFrameDeletion |
13/15 |
- |
1 |
10-129904057-C-G |
c.6047G>C |
p.G2016A |
Missense |
13/15 |
- |
1 |
10-129904057-C-T |
c.6047G>A |
p.G2016D |
Missense |
13/15 |
- |
3 |
10-129904058-C-T |
c.6046G>A |
p.G2016S |
Missense |
13/15 |
- |
1 |
10-129904059-G-A |
c.6045C>T |
p.V2015= |
Synonymous |
13/15 |
- |
1 |
10-129904059-G-C |
c.6045C>G |
p.V2015= |
Synonymous |
13/15 |
- |
1 |
10-129904059-G-T |
c.6045C>A |
p.V2015= |
Synonymous |
13/15 |
- |
1 |
10-129904059-GACTGGTAGGACCTCTTCTTTCACACCT-G |
c.6018_6044del |
p.V2008_G2016del |
InFrameDeletion |
13/15 |
- |
1 |
10-129904063-G-A |
c.6041C>T |
p.P2014L |
Missense |
13/15 |
- |
2 |
10-129904064-G-C |
c.6040C>G |
p.P2014A |
Missense |
13/15 |
- |
1 |
10-129904068-G-A |
c.6036C>T |
p.V2012= |
Synonymous |
13/15 |
- |
1 |
10-129904070-C-T |
c.6034G>A |
p.V2012I |
Missense |
13/15 |
- |
1 |
10-129904075-T-C |
c.6029A>G |
p.E2010G |
Missense |
13/15 |
- |
1 |
10-129904076-C-A |
c.6028G>T |
p.E2010* |
Nonsense |
13/15 |
- |
3 |
10-129904080-C-A |
c.6024G>T |
p.V2008= |
Synonymous |
13/15 |
- |
1 |
10-129904080-C-G |
c.6024G>C |
p.V2008= |
Synonymous |
13/15 |
- |
1 |
10-129904080-C-T |
c.6024G>A |
p.V2008= |
Synonymous |
13/15 |
- |
1 |
10-129904082-C-A |
c.6022G>T |
p.V2008L |
Missense |
13/15 |
- |
1 |
10-129904082-C-G |
c.6022G>C |
p.V2008L |
Missense |
13/15 |
- |
1 |
10-129904087-A-G |
c.6017T>C |
p.V2006A |
Missense |
13/15 |
- |
2 |
10-129904088-C-T |
c.6016G>A |
p.V2006I |
Missense |
13/15 |
- |
1 |
10-129904089-T-C |
c.6015A>G |
p.K2005= |
Synonymous |
13/15 |
- |
1 |
10-129904093-C-A |
c.6011G>T |
p.G2004V |
Missense |
13/15 |
- |
1 |
10-129904093-C-G |
c.6011G>C |
p.G2004A |
Missense |
13/15 |
- |
1 |
10-129904094-C-A |
c.6010G>T |
p.G2004W |
Missense |
13/15 |
- |
1 |
10-129904099-G-A |
c.6005C>T |
p.S2002F |
Missense |
13/15 |
- |
4 |
10-129904099-G-T |
c.6005C>A |
p.S2002Y |
Missense |
13/15 |
- |
1 |
10-129904104-C-A |
c.6000G>T |
p.K2000N |
Missense |
13/15 |
- |
2 |
10-129904104-C-G |
c.6000G>C |
p.K2000N |
Missense |
13/15 |
- |
5 |
10-129904108-GA-G |
c.5996del |
p.L1999Pfs*8 |
Frameshift |
13/15 |
- |
1 |
10-129904110-TC-AT |
c.5993_5994delinsAT |
p.R1998H |
Missense |
13/15 |
- |
1 |
10-129904112-G-A |
c.5992C>T |
p.R1998* |
Nonsense |
13/15 |
- |
4 |
10-129904115-G-A |
c.5989C>T |
p.Q1997* |
Nonsense |
13/15 |
- |
1 |
10-129904120-GA-AG |
c.5983_5984delinsCT |
p.S1995L |
Missense |
13/15 |
- |
1 |
10-129904124-T-G |
c.5980A>C |
p.S1994R |
Missense |
13/15 |
- |
1 |
10-129904130-G-C |
c.5974C>G |
p.P1992A |
Missense |
13/15 |
- |
1 |
10-129904131-G-A |
c.5973C>T |
p.T1991= |
Synonymous |
13/15 |
- |
1 |
10-129904131-G-C |
c.5973C>G |
p.T1991= |
Synonymous |
13/15 |
- |
1 |
10-129904131-G-T |
c.5973C>A |
p.T1991= |
Synonymous |
13/15 |
- |
1 |
10-129904133-T-C |
c.5971A>G |
p.T1991A |
Missense |
13/15 |
- |
4 |
10-129904137-G-A |
c.5967C>T |
p.V1989= |
Synonymous |
13/15 |
- |
1 |
10-129904137-G-C |
c.5967C>G |
p.V1989= |
Synonymous |
13/15 |
- |
1 |
10-129904137-G-T |
c.5967C>A |
p.V1989= |
Synonymous |
13/15 |
- |
3 |
10-129904142-G-C |
c.5962C>G |
p.P1988A |
Missense |
13/15 |
- |
2 |
10-129904148-G-C |
c.5956C>G |
p.P1986A |
Missense |
13/15 |
- |
2 |
10-129904157-A-G |
c.5947T>C |
p.S1983P |
Missense |
13/15 |
- |
1 |
10-129904162-C-A |
c.5942G>T |
p.C1981F |
Missense |
13/15 |
- |
2 |
10-129904162-C-T |
c.5942G>A |
p.C1981Y |
Missense |
13/15 |
- |
2 |
10-129904169-C-A |
c.5935G>T |
p.V1979L |
Missense |
13/15 |
- |
1 |
10-129904169-C-T |
c.5935G>A |
p.V1979I |
Missense |
13/15 |
- |
1 |
10-129904172-C-T |
c.5932G>A |
p.E1978K |
Missense |
13/15 |
- |
1 |
10-129904173-TG-GT |
c.5930_5931delinsAC |
p.T1977N |
Missense |
13/15 |
- |
6 |
10-129904174-G-C |
c.5930C>G |
p.T1977R |
Missense |
13/15 |
- |
1 |
10-129904174-G-T |
c.5930C>A |
p.T1977K |
Missense |
13/15 |
- |
1 |
10-129904176-G-A |
c.5928C>T |
p.I1976= |
Synonymous |
13/15 |
- |
3 |
10-129904177-A-C |
c.5927T>G |
p.I1976S |
Missense |
13/15 |
- |
2 |
10-129904184-C-G |
c.5920G>C |
p.D1974H |
Missense |
13/15 |
- |
1 |
10-129904187-C-T |
c.5917G>A |
p.D1973N |
Missense |
13/15 |
- |
1 |
10-129904188-G-A |
c.5916C>T |
p.T1972= |
Synonymous |
13/15 |
- |
2 |
10-129904188-G-C |
c.5916C>G |
p.T1972= |
Synonymous |
13/15 |
- |
2 |
10-129904188-G-T |
c.5916C>A |
p.T1972= |
Synonymous |
13/15 |
- |
1 |
10-129904189-G-A |
c.5915C>T |
p.T1972I |
Missense |
13/15 |
- |
1 |
10-129904199-C-T |
c.5905G>A |
p.E1969K |
Missense |
13/15 |
- |
6 |
10-129904200-C-A |
c.5904G>T |
p.E1968D |
Missense |
13/15 |
- |
1 |
10-129904200-C-G |
c.5904G>C |
p.E1968D |
Missense |
13/15 |
- |
2 |
10-129904202-C-T |
c.5902G>A |
p.E1968K |
Missense |
13/15 |
- |
1 |
10-129904207-T-A |
c.5897A>T |
p.H1966L |
Missense |
13/15 |
- |
2 |
10-129904220-G-A |
c.5884C>T |
p.Q1962* |
Nonsense |
13/15 |
- |
1 |
10-129904220-G-C |
c.5884C>G |
p.Q1962E |
Missense |
13/15 |
- |
1 |
10-129904233-G-A |
c.5871C>T |
p.F1957= |
Synonymous |
13/15 |
- |
1 |
10-129904240-GC-CA |
c.5863_5864delinsTG |
p.A1955C |
Missense |
13/15 |
- |
1 |
10-129904241-C-T |
c.5863G>A |
p.A1955T |
Missense |
13/15 |
- |
1 |
10-129904245-A-G |
c.5859T>C |
p.D1953= |
Synonymous |
13/15 |
- |
1 |
10-129904251-TAG-CAT |
c.5851_5853delinsATG |
p.L1951M |
Missense |
13/15 |
- |
1 |
10-129904253-G-C |
c.5851C>G |
p.L1951V |
Missense |
13/15 |
- |
2 |
10-129904253-G-T |
c.5851C>A |
p.L1951I |
Missense |
13/15 |
- |
3 |
10-129904257-C-A |
c.5847G>T |
p.K1949N |
Missense |
13/15 |
- |
1 |
10-129904257-C-G |
c.5847G>C |
p.K1949N |
Missense |
13/15 |
- |
1 |
10-129904258-T-A |
c.5846A>T |
p.K1949M |
Missense |
13/15 |
- |
1 |
10-129904261-G-A |
c.5843C>T |
p.A1948V |
Missense |
13/15 |
- |
3 |
10-129904262-C-T |
c.5842G>A |
p.A1948T |
Missense |
13/15 |
- |
1 |
10-129904263-C-T |
c.5841G>A |
p.K1947= |
Synonymous |
13/15 |
- |
2 |
10-129904269-T-C |
c.5835A>G |
p.K1945= |
Synonymous |
13/15 |
- |
1 |
10-129904273-G-A |
c.5831C>T |
p.P1944L |
Missense |
13/15 |
- |
1 |
10-129904274-G-C |
c.5830C>G |
p.P1944A |
Missense |
13/15 |
- |
1 |
10-129904279-T-G |
c.5825A>C |
p.Q1942P |
Missense |
13/15 |
- |
3 |
10-129904285-C-A |
c.5819G>T |
p.R1940L |
Missense |
13/15 |
- |
1 |
10-129904285-C-T |
c.5819G>A |
p.R1940Q |
Missense |
13/15 |
- |
1 |
10-129904284-C-A |
c.5820G>T |
p.R1940= |
Synonymous |
13/15 |
- |
1 |
10-129904284-C-G |
c.5820G>C |
p.R1940= |
Synonymous |
13/15 |
- |
1 |
10-129904284-C-T |
c.5820G>A |
p.R1940= |
Synonymous |
13/15 |
- |
1 |
10-129904286-G-A |
c.5818C>T |
p.R1940W |
Missense |
13/15 |
- |
8 |
10-129904286-G-T |
c.5818C>A |
p.R1940= |
Synonymous |
13/15 |
- |
1 |
10-129904289-T-A |
c.5815A>T |
p.R1939* |
Nonsense |
13/15 |
- |
3 |
10-129904294-C-T |
c.5810G>A |
p.S1937N |
Missense |
13/15 |
- |
3 |
10-129904301-G-A |
c.5803C>T |
p.P1935S |
Missense |
13/15 |
- |
1 |
10-129904313-G-A |
c.5791C>T |
p.L1931= |
Synonymous |
13/15 |
- |
1 |
10-129904316-G-A |
c.5788C>T |
p.L1930= |
Synonymous |
13/15 |
- |
1 |
10-129904317-G-A |
c.5787C>T |
p.D1929= |
Synonymous |
13/15 |
- |
2 |
10-129904326-C-A |
c.5778G>T |
p.E1926D |
Missense |
13/15 |
- |
1 |
10-129904326-C-G |
c.5778G>C |
p.E1926D |
Missense |
13/15 |
- |
1 |
10-129904327-T-A |
c.5777A>T |
p.E1926V |
Missense |
13/15 |
- |
1 |
10-129904327-T-C |
c.5777A>G |
p.E1926G |
Missense |
13/15 |
- |
1 |
10-129904328-C-G |
c.5776G>C |
p.E1926Q |
Missense |
13/15 |
- |
1 |
10-129904331-C-T |
c.5773G>A |
p.V1925M |
Missense |
13/15 |
- |
2 |
10-129904336-G-T |
c.5768C>A |
p.T1923N |
Missense |
13/15 |
- |
2 |
10-129904339-C-T |
c.5765G>A |
p.G1922E |
Missense |
13/15 |
- |
1 |
10-129904348-G-C |
c.5756C>G |
p.T1919R |
Missense |
13/15 |
- |
1 |
10-129904349-T-C |
c.5755A>G |
p.T1919A |
Missense |
13/15 |
- |
1 |
10-129904353-G-A |
c.5751C>T |
p.I1917= |
Synonymous |
13/15 |
- |
2 |
10-129904353-G-T |
c.5751C>A |
p.I1917= |
Synonymous |
13/15 |
- |
1 |
10-129904364-C-A |
c.5740G>T |
p.E1914* |
Nonsense |
13/15 |
- |
2 |
10-129904364-C-T |
c.5740G>A |
p.E1914K |
Missense |
13/15 |
- |
1 |
10-129904368-ACC-TCA |
c.5734_5736delinsTGA |
p.G1912* |
Nonsense |
13/15 |
- |
1 |
10-129904369-C-G |
c.5735G>C |
p.G1912A |
Missense |
13/15 |
- |
1 |
10-129904370-C-A |
c.5734G>T |
p.G1912C |
Missense |
13/15 |
- |
3 |
10-129904376-C-T |
c.5728G>A |
p.A1910T |
Missense |
13/15 |
- |
1 |
10-129904377-T-A |
c.5727A>T |
p.A1909= |
Synonymous |
13/15 |
- |
1 |
10-129904377-T-C |
c.5727A>G |
p.A1909= |
Synonymous |
13/15 |
- |
1 |
10-129904377-T-G |
c.5727A>C |
p.A1909= |
Synonymous |
13/15 |
- |
1 |
10-129904378-G-A |
c.5726C>T |
p.A1909V |
Missense |
13/15 |
- |
1 |
10-129904384-AGGCGTGTGCATGGCTTTGCCTGCTGATGGTGTTAGTTTCCTGAATGCTAAAAATTCTTC-A |
c.5662_5720del |
p.E1888* |
InFrameDeletion |
13/15 |
- |
1 |
10-129904386-C-A |
c.5718G>T |
p.T1906= |
Synonymous |
13/15 |
- |
1 |
10-129904386-C-G |
c.5718G>C |
p.T1906= |
Synonymous |
13/15 |
- |
1 |
10-129904386-C-T |
c.5718G>A |
p.T1906= |
Synonymous |
13/15 |
- |
1 |
10-129904387-G-A |
c.5717C>T |
p.T1906M |
Missense |
13/15 |
- |
2 |
10-129904392-C-T |
c.5712G>A |
p.M1904I |
Missense |
13/15 |
- |
1 |
10-129904396-G-C |
c.5708C>G |
p.A1903G |
Missense |
13/15 |
- |
1 |
10-129904397-C-A |
c.5707G>T |
p.A1903S |
Missense |
13/15 |
- |
1 |
10-129904401-G-A |
c.5703C>T |
p.G1901= |
Synonymous |
13/15 |
- |
1 |
10-129904405-G-A |
c.5699C>T |
p.A1900V |
Missense |
13/15 |
- |
1 |
10-129904406-C-A |
c.5698G>T |
p.A1900S |
Missense |
13/15 |
- |
1 |
10-129904412-G-A |
c.5692C>T |
p.P1898S |
Missense |
13/15 |
- |
1 |
10-129904413-T-C |
c.5691A>G |
p.T1897= |
Synonymous |
13/15 |
- |
1 |
10-129904416-T-A |
c.5688A>T |
p.L1896= |
Synonymous |
13/15 |
- |
1 |
10-129904416-T-C |
c.5688A>G |
p.L1896= |
Synonymous |
13/15 |
- |
1 |
10-129904416-T-G |
c.5688A>C |
p.L1896= |
Synonymous |
13/15 |
- |
1 |
10-129904418-G-A |
c.5686C>T |
p.L1896= |
Synonymous |
13/15 |
- |
1 |
10-129904417-A-T |
c.5687T>A |
p.L1896Q |
Missense |
13/15 |
- |
1 |
10-129904425-G-C |
c.5679C>G |
p.F1893L |
Missense |
13/15 |
- |
1 |
10-129904425-G-T |
c.5679C>A |
p.F1893L |
Missense |
13/15 |
- |
1 |
10-129904427-A-G |
c.5677T>C |
p.F1893L |
Missense |
13/15 |
- |
1 |
10-129904435-A-C |
c.5669T>G |
p.F1890C |
Missense |
13/15 |
- |
1 |
10-129904431-TA-T |
c.5672del |
p.L1891* |
Frameshift |
13/15 |
- |
1 |
10-129904439-C-A |
c.5665G>T |
p.E1889* |
Nonsense |
13/15 |
- |
1 |
10-129904439-C-T |
c.5665G>A |
p.E1889K |
Missense |
13/15 |
- |
1 |
10-129904445-C-G |
c.5659G>C |
p.E1887Q |
Missense |
13/15 |
- |
3 |
10-129904445-C-T |
c.5659G>A |
p.E1887K |
Missense |
13/15 |
- |
1 |
10-129904448-C-T |
c.5656G>A |
p.V1886I |
Missense |
13/15 |
- |
3 |
10-129904449-G-A |
c.5655C>T |
p.D1885= |
Synonymous |
13/15 |
- |
1 |
10-129904449-G-GAGAGAAAT |
c.5654_5655insATTTCTCT |
p.D1885Efs*5 |
Frameshift |
13/15 |
- |
1 |
10-129904451-C-T |
c.5653G>A |
p.D1885N |
Missense |
13/15 |
- |
1 |
10-129904452-T-A |
c.5652A>T |
p.A1884= |
Synonymous |
13/15 |
- |
1 |
10-129904452-T-C |
c.5652A>G |
p.A1884= |
Synonymous |
13/15 |
- |
1 |
10-129904452-T-G |
c.5652A>C |
p.A1884= |
Synonymous |
13/15 |
- |
1 |
10-129904453-G-GC |
c.5650dup |
p.A1884Gfs*25 |
Frameshift |
13/15 |
- |
1 |
10-129904454-C-T |
c.5650G>A |
p.A1884T |
Missense |
13/15 |
- |
2 |
10-129904456-T-G |
c.5648A>C |
p.K1883T |
Missense |
13/15 |
- |
1 |
10-129904458-C-A |
c.5646G>T |
p.K1882N |
Missense |
13/15 |
- |
1 |
10-129904458-C-G |
c.5646G>C |
p.K1882N |
Missense |
13/15 |
- |
1 |
10-129904458-C-T |
c.5646G>A |
p.K1882= |
Synonymous |
13/15 |
- |
1 |
10-129904459-T-C |
c.5645A>G |
p.K1882R |
Missense |
13/15 |
- |
2 |
10-129904460-T-TA |
c.5643_5644insT |
p.K1882* |
Nonsense |
13/15 |
- |
1 |
10-129904463-G-GTAAAA |
c.5640_5641insTTTTA |
p.L1881Ffs*8 |
Frameshift |
13/15 |
- |
1 |
10-129904464-G-A |
c.5640C>T |
p.S1880= |
Synonymous |
13/15 |
- |
1 |
10-129904466-T-TTAC |
c.5637_5638insGTA |
p.R1879_S1880insV |
InFrameInsertion |
13/15 |
- |
1 |
10-129904467-T-TCC |
c.5636_5637insGG |
p.S1880Efs*8 |
Frameshift |
13/15 |
- |
1 |
10-129904468-C-G |
c.5636G>C |
p.R1879T |
Missense |
13/15 |
- |
1 |
10-129904470-C-T |
c.5634G>A |
p.K1878= |
Synonymous |
13/15 |
- |
1 |
10-129904472-T-TTTGAA |
c.5631_5632insTTCAA |
p.K1878Ffs*11 |
Frameshift |
13/15 |
- |
1 |
10-129904473-G-A |
c.5631C>T |
p.P1877= |
Synonymous |
13/15 |
- |
1 |
10-129904473-G-C |
c.5631C>G |
p.P1877= |
Synonymous |
13/15 |
- |
1 |
10-129904473-G-T |
c.5631C>A |
p.P1877= |
Synonymous |
13/15 |
- |
1 |
10-129904474-G-A |
c.5630C>T |
p.P1877L |
Missense |
13/15 |
- |
14 |
10-129904475-G-A |
c.5629C>T |
p.P1877S |
Missense |
13/15 |
- |
1 |
10-129904477-C-T |
c.5627G>A |
p.R1876Q |
Missense |
13/15 |
- |
18 |
10-129904476-C-A |
c.5628G>T |
p.R1876= |
Synonymous |
13/15 |
- |
1 |
10-129904476-C-G |
c.5628G>C |
p.R1876= |
Synonymous |
13/15 |
- |
1 |
10-129904476-C-T |
c.5628G>A |
p.R1876= |
Synonymous |
13/15 |
- |
1 |
10-129904478-G-T |
c.5626C>A |
p.R1876= |
Synonymous |
13/15 |
- |
1 |
10-129904480-T-C |
c.5624A>G |
p.Q1875R |
Missense |
13/15 |
- |
1 |
10-129904482-C-T |
c.5622G>A |
p.K1874= |
Synonymous |
13/15 |
- |
1 |
10-129904487-T-A |
c.5617A>T |
p.T1873S |
Missense |
13/15 |
- |
1 |
10-129904487-T-C |
c.5617A>G |
p.T1873A |
Missense |
13/15 |
- |
1 |
10-129904489-T-C |
c.5615A>G |
p.N1872S |
Missense |
13/15 |
- |
1 |
10-129904495-G-T |
c.5609C>A |
p.P1870Q |
Missense |
13/15 |
- |
1 |
10-129904496-G-A |
c.5608C>T |
p.P1870S |
Missense |
13/15 |
- |
1 |
10-129904497-G-A |
c.5607C>T |
p.T1869= |
Synonymous |
13/15 |
- |
1 |
10-129904497-G-C |
c.5607C>G |
p.T1869= |
Synonymous |
13/15 |
- |
1 |
10-129904497-G-GAGAGAAAT |
c.5606_5607insATTTCTCT |
p.P1870Ffs*20 |
Frameshift |
13/15 |
- |
1 |
10-129904497-G-T |
c.5607C>A |
p.T1869= |
Synonymous |
13/15 |
- |
1 |
10-129904498-G-C |
c.5606C>G |
p.T1869S |
Missense |
13/15 |
- |
1 |
10-129904499-T-C |
c.5605A>G |
p.T1869A |
Missense |
13/15 |
- |
2 |
10-129904500-G-C |
c.5604C>G |
p.D1868E |
Missense |
13/15 |
- |
1 |
10-129904502-C-T |
c.5602G>A |
p.D1868N |
Missense |
13/15 |
- |
3 |
10-129904501-T-TC |
c.5602dup |
p.D1868Gfs*41 |
Frameshift |
13/15 |
- |
1 |
10-129904504-G-A |
c.5600C>T |
p.A1867V |
Missense |
13/15 |
- |
2 |
10-129904508-G-A |
c.5596C>T |
p.P1866S |
Missense |
13/15 |
- |
1 |
10-129904508-G-GA |
c.5595_5596insT |
p.P1866Sfs*43 |
Frameshift |
13/15 |
- |
1 |
10-129904509-G-A |
c.5595C>T |
p.D1865= |
Synonymous |
13/15 |
- |
1 |
10-129904511-C-T |
c.5593G>A |
p.D1865N |
Missense |
13/15 |
- |
1 |
10-129904511-C-CTAAAA |
c.5592_5593insTTTTA |
p.D1865Ffs*2 |
Frameshift |
13/15 |
- |
1 |
10-129904513-G-C |
c.5591C>G |
p.S1864* |
Nonsense |
13/15 |
- |
1 |
10-129904513-G-T |
c.5591C>A |
p.S1864* |
Nonsense |
13/15 |
- |
1 |
10-129904514-A-T |
c.5590T>A |
p.S1864T |
Missense |
13/15 |
- |
1 |
10-129904514-A-ATAC |
c.5589_5590insGTA |
p.Q1863_S1864insV |
InFrameInsertion |
13/15 |
- |
1 |
10-129904515-T-C |
c.5589A>G |
p.Q1863= |
Synonymous |
13/15 |
- |
1 |
10-129904516-T-A |
c.5588A>T |
p.Q1863L |
Missense |
13/15 |
- |
1 |
10-129904516-T-TCC |
c.5587_5588insGG |
p.Q1863Rfs*25 |
Frameshift |
13/15 |
- |
1 |
10-129904518-C-A |
c.5586G>T |
p.P1862= |
Synonymous |
13/15 |
- |
1 |
10-129904518-C-G |
c.5586G>C |
p.P1862= |
Synonymous |
13/15 |
- |
1 |
10-129904518-C-T |
c.5586G>A |
p.P1862= |
Synonymous |
13/15 |
- |
1 |
10-129904519-G-A |
c.5585C>T |
p.P1862L |
Missense |
13/15 |
- |
4 |
10-129904519-G-GGTA |
c.5584_5585insTAC |
p.S1861_P1862insL |
InFrameInsertion |
13/15 |
- |
1 |
10-129904520-G-GTTGAA |
c.5583_5584insTTCAA |
p.P1862Ffs*27 |
Frameshift |
13/15 |
- |
1 |
10-129904521-A-C |
c.5583T>G |
p.S1861= |
Synonymous |
13/15 |
- |
1 |
10-129904521-A-G |
c.5583T>C |
p.S1861= |
Synonymous |
13/15 |
- |
1 |
10-129904521-A-T |
c.5583T>A |
p.S1861= |
Synonymous |
13/15 |
- |
1 |
10-129904522-G-A |
c.5582C>T |
p.S1861F |
Missense |
13/15 |
- |
1 |
10-129904527-G-A |
c.5577C>T |
p.C1859= |
Synonymous |
13/15 |
- |
1 |
10-129904532-G-A |
c.5572C>T |
p.L1858F |
Missense |
13/15 |
- |
1 |
10-129904535-T-A |
c.5569A>T |
p.I1857L |
Missense |
13/15 |
- |
1 |
10-129904535-T-G |
c.5569A>C |
p.I1857L |
Missense |
13/15 |
- |
1 |
10-129904534-AT-A |
c.5569del |
p.I1857Yfs*30 |
Frameshift |
13/15 |
- |
5 |
10-129904541-T-A |
c.5563A>T |
p.K1855* |
Nonsense |
13/15 |
- |
1 |
10-129904542-G-A |
c.5562C>T |
p.T1854= |
Synonymous |
13/15 |
- |
1 |
10-129904542-GG-CA |
c.5561_5562delinsTG |
p.T1854M |
Missense |
13/15 |
- |
1 |
10-129904543-G-A |
c.5561C>T |
p.T1854I |
Missense |
13/15 |
- |
1 |
10-129904544-T-C |
c.5560A>G |
p.T1854A |
Missense |
13/15 |
- |
1 |
10-129904545-A-G |
c.5559T>C |
p.T1853= |
Synonymous |
13/15 |
- |
1 |
10-129904559-T-C |
c.5545A>G |
p.T1849A |
Missense |
13/15 |
- |
1 |
10-129904559-T-G |
c.5545A>C |
p.T1849P |
Missense |
13/15 |
- |
1 |
10-129904560-C-A |
c.5544G>T |
p.T1848= |
Synonymous |
13/15 |
- |
17 |
10-129904560-C-G |
c.5544G>C |
p.T1848= |
Synonymous |
13/15 |
- |
17 |
10-129904560-C-T |
c.5544G>A |
p.T1848= |
Synonymous |
13/15 |
- |
19 |
10-129904561-G-A |
c.5543C>T |
p.T1848M |
Missense |
13/15 |
- |
4 |
10-129904566-G-A |
c.5538C>T |
p.N1846= |
Synonymous |
13/15 |
- |
1 |
10-129904571-C-CA |
c.5532dup |
p.D1845* |
Nonsense |
13/15 |
- |
1 |
10-129904586-G-A |
c.5518C>T |
p.Q1840* |
Nonsense |
13/15 |
- |
2 |
10-129904587-G-A |
c.5517C>T |
p.F1839= |
Synonymous |
13/15 |
- |
2 |
10-129904595-C-T |
c.5509G>A |
p.E1837K |
Missense |
13/15 |
- |
2 |
10-129904597-C-G |
c.5507G>C |
p.R1836T |
Missense |
13/15 |
- |
1 |
10-129904597-C-T |
c.5507G>A |
p.R1836K |
Missense |
13/15 |
- |
1 |
10-129904598-T-A |
c.5506A>T |
p.R1836* |
Nonsense |
13/15 |
- |
1 |
10-129904603-C-G |
c.5501G>C |
p.G1834A |
Missense |
13/15 |
- |
1 |
10-129904604-C-T |
c.5500G>A |
p.G1834S |
Missense |
13/15 |
- |
1 |
10-129904615-T-C |
c.5489A>G |
p.E1830G |
Missense |
13/15 |
- |
1 |
10-129904621-G-C |
c.5483C>G |
p.A1828G |
Missense |
13/15 |
- |
2 |
10-129904626-G-A |
c.5478C>T |
p.A1826= |
Synonymous |
13/15 |
- |
2 |
10-129904638-ACG-CTT |
c.5464_5466delinsAAG |
p.R1822K |
Missense |
13/15 |
- |
3 |
10-129904639-C-A |
c.5465G>T |
p.R1822L |
Missense |
13/15 |
- |
1 |
10-129904639-C-G |
c.5465G>C |
p.R1822P |
Missense |
13/15 |
- |
1 |
10-129904639-C-T |
c.5465G>A |
p.R1822H |
Missense |
13/15 |
- |
1 |
10-129904640-G-A |
c.5464C>T |
p.R1822C |
Missense |
13/15 |
- |
5 |
10-129904651-C-A |
c.5453G>T |
p.R1818L |
Missense |
13/15 |
- |
2 |
10-129904653-T-A |
c.5451A>T |
p.R1817S |
Missense |
13/15 |
- |
1 |
10-129904653-T-G |
c.5451A>C |
p.R1817S |
Missense |
13/15 |
- |
1 |
10-129904654-C-G |
c.5450G>C |
p.R1817T |
Missense |
13/15 |
- |
9 |
10-129904661-T-A |
c.5443A>T |
p.S1815C |
Missense |
13/15 |
- |
1 |
10-129904662-GC-CT |
c.5441_5442delinsAG |
p.G1814E |
Missense |
13/15 |
- |
1 |
10-129904666-G-A |
c.5438C>T |
p.P1813L |
Missense |
13/15 |
- |
1 |
10-129904674-T-A |
c.5430A>T |
p.G1810= |
Synonymous |
13/15 |
- |
1 |
10-129904674-T-C |
c.5430A>G |
p.G1810= |
Synonymous |
13/15 |
- |
2 |
10-129904674-T-G |
c.5430A>C |
p.G1810= |
Synonymous |
13/15 |
- |
1 |
10-129904675-CC-GT |
c.5428_5429delinsAC |
p.G1810T |
Missense |
13/15 |
- |
1 |
10-129904676-C-A |
c.5428G>T |
p.G1810* |
Nonsense |
13/15 |
- |
1 |
10-129904685-C-G |
c.5419G>C |
p.D1807H |
Missense |
13/15 |
- |
1 |
10-129904688-G-C |
c.5416C>G |
p.L1806V |
Missense |
13/15 |
- |
2 |
10-129904707-C-T |
c.5397G>A |
p.L1799= |
Synonymous |
13/15 |
- |
1 |
10-129904709-A-G |
c.5395T>C |
p.L1799= |
Synonymous |
13/15 |
- |
1 |
10-129904712-A-C |
c.5392T>G |
p.F1798V |
Missense |
13/15 |
- |
1 |
10-129904713-C-T |
c.5391G>A |
p.T1797= |
Synonymous |
13/15 |
- |
1 |
10-129904714-G-A |
c.5390C>T |
p.T1797M |
Missense |
13/15 |
- |
2 |
10-129904714-G-C |
c.5390C>G |
p.T1797R |
Missense |
13/15 |
- |
1 |
10-129904714-G-T |
c.5390C>A |
p.T1797K |
Missense |
13/15 |
- |
1 |
10-129904722-G-A |
c.5382C>T |
p.D1794= |
Synonymous |
13/15 |
- |
1 |
10-129904724-C-A |
c.5380G>T |
p.D1794Y |
Missense |
13/15 |
- |
1 |
10-129904735-C-G |
c.5369G>C |
p.G1790A |
Missense |
13/15 |
- |
2 |
10-129904736-C-T |
c.5368G>A |
p.G1790S |
Missense |
13/15 |
- |
1 |
10-129904745-G-C |
c.5359C>G |
p.P1787A |
Missense |
13/15 |
- |
2 |
10-129904746-GTTT-G |
c.5356_5358del |
p.K1786del |
InFrameDeletion |
13/15 |
- |
1 |
10-129904748-T-G |
c.5356A>C |
p.K1786Q |
Missense |
13/15 |
- |
1 |
10-129904749-G-A |
c.5355C>T |
p.P1785= |
Synonymous |
13/15 |
- |
1 |
10-129904749-GGGT-G |
c.5352_5354del |
p.P1785del |
InFrameDeletion |
13/15 |
- |
1 |
10-129904752-T-A |
c.5352A>T |
p.T1784= |
Synonymous |
13/15 |
- |
1 |
10-129904752-T-C |
c.5352A>G |
p.T1784= |
Synonymous |
13/15 |
- |
2 |
10-129904752-T-G |
c.5352A>C |
p.T1784= |
Synonymous |
13/15 |
- |
1 |
10-129904753-G-A |
c.5351C>T |
p.T1784I |
Missense |
13/15 |
- |
3 |
10-129904754-T-C |
c.5350A>G |
p.T1784A |
Missense |
13/15 |
- |
4 |
10-129904757-G-A |
c.5347C>T |
p.H1783Y |
Missense |
13/15 |
- |
1 |
10-129904757-G-T |
c.5347C>A |
p.H1783N |
Missense |
13/15 |
- |
1 |
10-129904761-G-C |
c.5343C>G |
p.A1781= |
Synonymous |
13/15 |
- |
1 |
10-129904762-G-A |
c.5342C>T |
p.A1781V |
Missense |
13/15 |
- |
1 |
10-129904762-G-T |
c.5342C>A |
p.A1781D |
Missense |
13/15 |
- |
1 |
10-129904768-C-A |
c.5336G>T |
p.G1779V |
Missense |
13/15 |
- |
3 |
10-129904771-G-A |
c.5333C>T |
p.A1778V |
Missense |
13/15 |
- |
1 |
10-129904772-C-T |
c.5332G>A |
p.A1778T |
Missense |
13/15 |
- |
1 |
10-129904778-G-A |
c.5326C>T |
p.P1776S |
Missense |
13/15 |
- |
2 |
10-129904779-C-A |
c.5325G>T |
p.T1775= |
Synonymous |
13/15 |
- |
3 |
10-129904779-C-G |
c.5325G>C |
p.T1775= |
Synonymous |
13/15 |
- |
3 |
10-129904779-C-T |
c.5325G>A |
p.T1775= |
Synonymous |
13/15 |
- |
5 |
10-129904780-G-A |
c.5324C>T |
p.T1775M |
Missense |
13/15 |
- |
5 |
10-129904780-G-T |
c.5324C>A |
p.T1775K |
Missense |
13/15 |
- |
1 |
10-129904781-T-A |
c.5323A>T |
p.T1775S |
Missense |
13/15 |
- |
2 |
10-129904785-T-C |
c.5319A>G |
p.K1773= |
Synonymous |
13/15 |
- |
1 |
10-129904788-C-T |
c.5316G>A |
p.R1772= |
Synonymous |
13/15 |
- |
3 |
10-129904790-T-G |
c.5314A>C |
p.R1772= |
Synonymous |
13/15 |
- |
1 |
10-129904789-CT-TA |
c.5314_5315delinsTA |
p.R1772* |
Nonsense |
13/15 |
- |
1 |
10-129904790-T-A |
c.5314A>T |
p.R1772W |
Missense |
13/15 |
- |
2 |
10-129904791-A-G |
c.5313T>C |
p.F1771= |
Synonymous |
13/15 |
- |
1 |
10-129904795-G-A |
c.5309C>T |
p.A1770V |
Missense |
13/15 |
- |
3 |
10-129904800-A-C |
c.5304T>G |
p.F1768L |
Missense |
13/15 |
- |
3 |
10-129904800-A-T |
c.5304T>A |
p.F1768L |
Missense |
13/15 |
- |
2 |
10-129904802-A-G |
c.5302T>C |
p.F1768L |
Missense |
13/15 |
- |
2 |
10-129904805-C-A |
c.5299G>T |
p.E1767* |
Nonsense |
13/15 |
- |
4 |
10-129904806-T-C |
c.5298A>G |
p.E1766= |
Synonymous |
13/15 |
- |
1 |
10-129904807-T-A |
c.5297A>T |
p.E1766V |
Missense |
13/15 |
- |
1 |
10-129904808-C-A |
c.5296G>T |
p.E1766* |
Nonsense |
13/15 |
- |
2 |
10-129904811-C-A |
c.5293G>T |
p.E1765* |
Nonsense |
13/15 |
- |
1 |
10-129904818-TGC-ACA |
c.5284_5286delinsTGT |
p.A1762C |
Missense |
13/15 |
- |
1 |
10-129904823-T-C |
c.5281A>G |
p.K1761E |
Missense |
13/15 |
- |
1 |
10-129904826-T-A |
c.5278A>T |
p.R1760W |
Missense |
13/15 |
- |
1 |
10-129904830-A-G |
c.5274T>C |
p.S1758= |
Synonymous |
13/15 |
- |
1 |
10-129904834-C-G |
c.5270G>C |
p.R1757T |
Missense |
13/15 |
- |
1 |
10-129904842-C-T |
c.5262G>A |
p.Q1754= |
Synonymous |
13/15 |
- |
1 |
10-129904852-G-A |
c.5252C>T |
p.S1751F |
Missense |
13/15 |
- |
1 |
10-129904854-G-C |
c.5250C>G |
p.S1750R |
Missense |
13/15 |
- |
1 |
10-129904854-G-T |
c.5250C>A |
p.S1750R |
Missense |
13/15 |
- |
1 |
10-129904856-T-G |
c.5248A>C |
p.S1750R |
Missense |
13/15 |
- |
1 |
10-129904855-C-G |
c.5249G>C |
p.S1750T |
Missense |
13/15 |
- |
1 |
10-129904855-C-T |
c.5249G>A |
p.S1750N |
Missense |
13/15 |
- |
3 |
10-129904855-CT-AG |
c.5248_5249inv |
p.S1750L |
Missense |
13/15 |
- |
2 |
10-129904861-G-A |
c.5243C>T |
p.P1748L |
Missense |
13/15 |
- |
1 |
10-129904863-G-A |
c.5241C>T |
p.T1747= |
Synonymous |
13/15 |
- |
1 |
10-129904863-G-C |
c.5241C>G |
p.T1747= |
Synonymous |
13/15 |
- |
1 |
10-129904863-G-T |
c.5241C>A |
p.T1747= |
Synonymous |
13/15 |
- |
1 |
10-129904864-G-T |
c.5240C>A |
p.T1747N |
Missense |
13/15 |
- |
1 |
10-129904869-C-T |
c.5235G>A |
p.V1745= |
Synonymous |
13/15 |
- |
1 |
10-129904873-A-G |
c.5231T>C |
p.L1744P |
Missense |
13/15 |
- |
1 |
10-129904878-T-A |
c.5226A>T |
p.P1742= |
Synonymous |
13/15 |
- |
1 |
10-129904878-T-C |
c.5226A>G |
p.P1742= |
Synonymous |
13/15 |
- |
1 |
10-129904878-T-G |
c.5226A>C |
p.P1742= |
Synonymous |
13/15 |
- |
1 |
10-129904880-GGCTGTGA-G |
c.5218_5224del |
p.S1740Qfs*3 |
Frameshift |
13/15 |
- |
1 |
10-129904881-C-T |
c.5223G>A |
p.Q1741= |
Synonymous |
13/15 |
- |
1 |
10-129904883-G-A |
c.5221C>T |
p.Q1741* |
Nonsense |
13/15 |
- |
1 |
10-129904888-G-T |
c.5216C>A |
p.A1739D |
Missense |
13/15 |
- |
2 |
10-129904891-C-A |
c.5213G>T |
p.R1738I |
Missense |
13/15 |
- |
1 |
10-129904893-G-A |
c.5211C>T |
p.Y1737= |
Synonymous |
13/15 |
- |
1 |
10-129904895-A-C |
c.5209T>G |
p.Y1737D |
Missense |
13/15 |
- |
1 |
10-129904895-AG-A |
c.5208del |
p.Y1737Tfs*8 |
Frameshift |
13/15 |
- |
1 |
10-129904904-T-A |
c.5200A>T |
p.K1734* |
Nonsense |
13/15 |
- |
4 |
10-129904907-T-G |
c.5197A>C |
p.T1733P |
Missense |
13/15 |
- |
1 |
10-129904908-A-G |
c.5196T>C |
p.T1732= |
Synonymous |
13/15 |
- |
1 |
10-129904909-G-C |
c.5195C>G |
p.T1732S |
Missense |
13/15 |
- |
1 |
10-129904909-GT-G |
c.5194del |
p.T1732Lfs*13 |
Frameshift |
13/15 |
- |
1 |
10-129904916-C-T |
c.5188G>A |
p.E1730K |
Missense |
13/15 |
- |
3 |
10-129904917-G-A |
c.5187C>T |
p.N1729= |
Synonymous |
13/15 |
- |
9 |
10-129904920-A-G |
c.5184T>C |
p.T1728= |
Synonymous |
13/15 |
- |
1 |
10-129904921-G-C |
c.5183C>G |
p.T1728S |
Missense |
13/15 |
- |
2 |
10-129904922-T-A |
c.5182A>T |
p.T1728S |
Missense |
13/15 |
- |
1 |
10-129904922-T-C |
c.5182A>G |
p.T1728A |
Missense |
13/15 |
- |
1 |
10-129904923-C-G |
c.5181G>C |
p.M1727I |
Missense |
13/15 |
- |
1 |
10-129904923-C-T |
c.5181G>A |
p.M1727I |
Missense |
13/15 |
- |
1 |
10-129904926-T-A |
c.5178A>T |
p.S1726= |
Synonymous |
13/15 |
- |
1 |
10-129904926-T-C |
c.5178A>G |
p.S1726= |
Synonymous |
13/15 |
- |
1 |
10-129904926-T-G |
c.5178A>C |
p.S1726= |
Synonymous |
13/15 |
- |
1 |
10-129904928-A-T |
c.5176T>A |
p.S1726T |
Missense |
13/15 |
- |
1 |
10-129904933-T-G |
c.5171A>C |
p.K1724T |
Missense |
13/15 |
- |
1 |
10-129904934-T-C |
c.5170A>G |
p.K1724E |
Missense |
13/15 |
- |
1 |
10-129904935-AG-CA |
c.5168_5169delinsTG |
p.T1723M |
Missense |
13/15 |
- |
1 |
10-129904939-T-C |
c.5165A>G |
p.H1722R |
Missense |
13/15 |
- |
1 |
10-129904939-TG-CT |
c.5164_5165delinsAG |
p.H1722S |
Missense |
13/15 |
- |
1 |
10-129904940-G-T |
c.5164C>A |
p.H1722N |
Missense |
13/15 |
- |
1 |
10-129904961-C-T |
c.5143G>A |
p.E1715K |
Missense |
13/15 |
- |
5 |
10-129904966-AA-GG |
c.5137_5138delinsCC |
p.F1713P |
Missense |
13/15 |
- |
1 |
10-129904969-C-G |
c.5135G>C |
p.G1712A |
Missense |
13/15 |
- |
1 |
10-129904970-C-CA |
c.5133_5134insT |
p.G1712Wfs*13 |
Frameshift |
13/15 |
- |
1 |
10-129904970-C-T |
c.5134G>A |
p.G1712S |
Missense |
13/15 |
- |
1 |
10-129904979-C-T |
c.5125G>A |
p.D1709N |
Missense |
13/15 |
- |
2 |
10-129904980-T-C |
c.5124A>G |
p.E1708= |
Synonymous |
13/15 |
- |
1 |
10-129904981-T-C |
c.5123A>G |
p.E1708G |
Missense |
13/15 |
- |
1 |
10-129904982-C-T |
c.5122G>A |
p.E1708K |
Missense |
13/15 |
- |
2 |
10-129904985-G-A |
c.5119C>T |
p.P1707S |
Missense |
13/15 |
- |
3 |
10-129904986-G-A |
c.5118C>T |
p.V1706= |
Synonymous |
13/15 |
- |
1 |
10-129904991-C-T |
c.5113G>A |
p.E1705K |
Missense |
13/15 |
- |
1 |
10-129904993-G-C |
c.5111C>G |
p.S1704C |
Missense |
13/15 |
- |
1 |
10-129904999-C-A |
c.5105G>T |
p.G1702V |
Missense |
13/15 |
- |
3 |
10-129904999-C-G |
c.5105G>C |
p.G1702A |
Missense |
13/15 |
- |
1 |
10-129905001-C-A |
c.5103G>T |
p.K1701N |
Missense |
13/15 |
- |
2 |
10-129905001-C-G |
c.5103G>C |
p.K1701N |
Missense |
13/15 |
- |
1 |
10-129905006-G-T |
c.5098C>A |
p.P1700T |
Missense |
13/15 |
- |
1 |
10-129905011-C-G |
c.5093G>C |
p.R1698T |
Missense |
13/15 |
- |
4 |
10-129905011-CT-TG |
c.5092_5093delinsCA |
p.R1698Q |
Missense |
13/15 |
- |
1 |
10-129905019-C-A |
c.5085G>T |
p.R1695S |
Missense |
13/15 |
- |
1 |
10-129905019-C-T |
c.5085G>A |
p.R1695= |
Synonymous |
13/15 |
- |
1 |
10-129905035-A-G |
c.5069T>C |
p.L1690P |
Missense |
13/15 |
- |
1 |
10-129905038-CT-AA |
c.5065_5066delinsTT |
p.S1689F |
Missense |
13/15 |
- |
1 |
10-129905047-G-A |
c.5057C>T |
p.S1686L |
Missense |
13/15 |
- |
1 |
10-129905047-G-C |
c.5057C>G |
p.S1686* |
Nonsense |
13/15 |
- |
1 |
10-129905047-G-T |
c.5057C>A |
p.S1686* |
Nonsense |
13/15 |
- |
1 |
10-129905057-T-A |
c.5047A>T |
p.I1683F |
Missense |
13/15 |
- |
1 |
10-129905058-C-A |
c.5046G>T |
p.Q1682H |
Missense |
13/15 |
- |
2 |
10-129905058-C-T |
c.5046G>A |
p.Q1682= |
Synonymous |
13/15 |
- |
1 |
10-129905059-T-C |
c.5045A>G |
p.Q1682R |
Missense |
13/15 |
- |
1 |
10-129905063-TTTG-T |
c.5039_5041del |
p.P1680_K1681delinsQ |
MultiAAMissense |
13/15 |
- |
1 |
10-129905072-C-G |
c.5032G>C |
p.E1678Q |
Missense |
13/15 |
- |
1 |
10-129905074-A-G |
c.5030T>C |
p.M1677T |
Missense |
13/15 |
- |
1 |
10-129905076-A-G |
c.5028T>C |
p.F1676= |
Synonymous |
13/15 |
- |
1 |
10-129905076-A-T |
c.5028T>A |
p.F1676L |
Missense |
13/15 |
- |
2 |
10-129905076-A-C |
c.5028T>G |
p.F1676L |
Missense |
13/15 |
- |
1 |
10-129905078-A-G |
c.5026T>C |
p.F1676L |
Missense |
13/15 |
- |
1 |
10-129905081-C-A |
c.5023G>T |
p.A1675S |
Missense |
13/15 |
- |
1 |
10-129905081-C-T |
c.5023G>A |
p.A1675T |
Missense |
13/15 |
- |
1 |
10-129905085-C-A |
c.5019G>T |
p.M1673I |
Missense |
13/15 |
- |
1 |
10-129905085-C-G |
c.5019G>C |
p.M1673I |
Missense |
13/15 |
- |
1 |
10-129905085-C-T |
c.5019G>A |
p.M1673I |
Missense |
13/15 |
- |
1 |
10-129905086-A-G |
c.5018T>C |
p.M1673T |
Missense |
13/15 |
- |
1 |
10-129905089-C-A |
c.5015G>T |
p.S1672I |
Missense |
13/15 |
- |
1 |
10-129905090-T-C |
c.5014A>G |
p.S1672G |
Missense |
13/15 |
- |
1 |
10-129905095-C-T |
c.5009G>A |
p.G1670D |
Missense |
13/15 |
- |
2 |
10-129905103-TGT-ACA |
c.4999_5001inv |
p.T1667C |
Missense |
13/15 |
- |
1 |
10-129905106-T-C |
c.4998A>G |
p.P1666= |
Synonymous |
13/15 |
- |
1 |
10-129905110-T-TCA |
c.4993_4994insTG |
p.E1665Vfs*10 |
Frameshift |
13/15 |
- |
1 |
10-129905111-C-CA |
c.4992_4993insT |
p.E1665* |
Nonsense |
13/15 |
- |
1 |
10-129905112-T-TTG |
c.4991_4992insCA |
p.E1665Kfs*10 |
Frameshift |
13/15 |
- |
2 |
10-129905113-G-A |
c.4991C>T |
p.T1664I |
Missense |
13/15 |
- |
1 |
10-129905113-G-C |
c.4991C>G |
p.T1664R |
Missense |
13/15 |
- |
1 |
10-129905118-T-G |
c.4986A>C |
p.T1662= |
Synonymous |
13/15 |
- |
1 |
10-129905119-G-A |
c.4985C>T |
p.T1662I |
Missense |
13/15 |
- |
3 |
10-129905111-CTG-C |
c.4991_4992del |
p.T1664Rfs*7 |
Frameshift |
13/15 |
- |
12 |
10-129905132-C-T |
c.4972G>A |
p.E1658K |
Missense |
13/15 |
- |
1 |
10-129905140-G-A |
c.4964C>T |
p.T1655I |
Missense |
13/15 |
- |
6 |
10-129905141-T-C |
c.4963A>G |
p.T1655A |
Missense |
13/15 |
- |
1 |
10-129905148-G-A |
c.4956C>T |
p.L1652= |
Synonymous |
13/15 |
- |
1 |
10-129905148-G-C |
c.4956C>G |
p.L1652= |
Synonymous |
13/15 |
- |
2 |
10-129905148-G-T |
c.4956C>A |
p.L1652= |
Synonymous |
13/15 |
- |
1 |
10-129905165-G-A |
c.4939C>T |
p.L1647= |
Synonymous |
13/15 |
- |
1 |
10-129905171-C-G |
c.4933G>C |
p.E1645Q |
Missense |
13/15 |
- |
1 |
10-129905180-C-A |
c.4924G>T |
p.V1642L |
Missense |
13/15 |
- |
1 |
10-129905180-C-T |
c.4924G>A |
p.V1642M |
Missense |
13/15 |
- |
1 |
10-129905183-C-T |
c.4921G>A |
p.G1641S |
Missense |
13/15 |
- |
1 |
10-129905188-T-G |
c.4916A>C |
p.K1639T |
Missense |
13/15 |
- |
2 |
10-129905192-C-A |
c.4912G>T |
p.G1638W |
Missense |
13/15 |
- |
1 |
10-129905193-C-T |
c.4911G>A |
p.L1637= |
Synonymous |
13/15 |
- |
2 |
10-129905197-G-A |
c.4907C>T |
p.S1636F |
Missense |
13/15 |
- |
1 |
10-129905199-T-C |
c.4905A>G |
p.T1635= |
Synonymous |
13/15 |
- |
1 |
10-129905201-T-C |
c.4903A>G |
p.T1635A |
Missense |
13/15 |
- |
1 |
10-129905202-C-A |
c.4902G>T |
p.K1634N |
Missense |
13/15 |
- |
1 |
10-129905202-C-G |
c.4902G>C |
p.K1634N |
Missense |
13/15 |
- |
2 |
10-129905199-TGTCTTGAGCC-T |
c.4895_4904del |
p.R1632Hfs*8 |
Frameshift |
13/15 |
- |
1 |
10-129905208-CCG-ACA |
c.4894_4896delinsTGT |
p.R1632C |
Missense |
13/15 |
- |
1 |
10-129905210-G-A |
c.4894C>T |
p.R1632W |
Missense |
13/15 |
- |
4 |
10-129905212-C-T |
c.4892G>A |
p.R1631Q |
Missense |
13/15 |
- |
1 |
10-129905213-G-A |
c.4891C>T |
p.R1631* |
Nonsense |
13/15 |
- |
2 |
10-129905213-G-T |
c.4891C>A |
p.R1631= |
Synonymous |
13/15 |
- |
1 |
10-129905214-C-T |
c.4890G>A |
p.K1630= |
Synonymous |
13/15 |
- |
1 |
10-129905217-G-A |
c.4887C>T |
p.S1629= |
Synonymous |
13/15 |
- |
1 |
10-129905217-G-C |
c.4887C>G |
p.S1629= |
Synonymous |
13/15 |
- |
1 |
10-129905217-G-T |
c.4887C>A |
p.S1629= |
Synonymous |
13/15 |
- |
1 |
10-129905223-T-G |
c.4881A>C |
p.A1627= |
Synonymous |
13/15 |
- |
3 |
10-129905226-T-C |
c.4878A>G |
p.P1626= |
Synonymous |
13/15 |
- |
1 |
10-129905233-T-C |
c.4871A>G |
p.K1624R |
Missense |
13/15 |
- |
1 |
10-129905235-G-C |
c.4869C>G |
p.D1623E |
Missense |
13/15 |
- |
1 |
10-129905235-G-T |
c.4869C>A |
p.D1623E |
Missense |
13/15 |
- |
1 |
10-129905236-T-C |
c.4868A>G |
p.D1623G |
Missense |
13/15 |
- |
1 |
10-129905239-G-A |
c.4865C>T |
p.P1622L |
Missense |
13/15 |
- |
9 |
10-129905239-G-C |
c.4865C>G |
p.P1622R |
Missense |
13/15 |
- |
3 |
10-129905245-G-A |
c.4859C>T |
p.P1620L |
Missense |
13/15 |
- |
1 |
10-129905246-G-C |
c.4858C>G |
p.P1620A |
Missense |
13/15 |
- |
1 |
10-129905248-T-G |
c.4856A>C |
p.Q1619P |
Missense |
13/15 |
- |
1 |
10-129905257-T-G |
c.4847A>C |
p.K1616T |
Missense |
13/15 |
- |
1 |
10-129905262-G-A |
c.4842C>T |
p.A1614= |
Synonymous |
13/15 |
- |
1 |
10-129905262-G-T |
c.4842C>A |
p.A1614= |
Synonymous |
13/15 |
- |
1 |
10-129905264-C-T |
c.4840G>A |
p.A1614T |
Missense |
13/15 |
- |
2 |
10-129905265-T-A |
c.4839A>T |
p.V1613= |
Synonymous |
13/15 |
- |
1 |
10-129905265-T-C |
c.4839A>G |
p.V1613= |
Synonymous |
13/15 |
- |
1 |
10-129905265-T-G |
c.4839A>C |
p.V1613= |
Synonymous |
13/15 |
- |
1 |
10-129905267-C-A |
c.4837G>T |
p.V1613L |
Missense |
13/15 |
- |
2 |
10-129905267-C-G |
c.4837G>C |
p.V1613L |
Missense |
13/15 |
- |
2 |
10-129905267-C-T |
c.4837G>A |
p.V1613I |
Missense |
13/15 |
- |
1 |
10-129905273-C-T |
c.4831G>A |
p.A1611T |
Missense |
13/15 |
- |
1 |
10-129905275-G-A |
c.4829C>T |
p.T1610I |
Missense |
13/15 |
- |
1 |
10-129905275-G-C |
c.4829C>G |
p.T1610S |
Missense |
13/15 |
- |
1 |
10-129905276-T-A |
c.4828A>T |
p.T1610S |
Missense |
13/15 |
- |
1 |
10-129905279-T-C |
c.4825A>G |
p.K1609E |
Missense |
13/15 |
- |
1 |
10-129905281-T-A |
c.4823A>T |
p.D1608V |
Missense |
13/15 |
- |
1 |
10-129905282-C-T |
c.4822G>A |
p.D1608N |
Missense |
13/15 |
- |
1 |
10-129905283-G-A |
c.4821C>T |
p.N1607= |
Synonymous |
13/15 |
- |
3 |
10-129905284-T-C |
c.4820A>G |
p.N1607S |
Missense |
13/15 |
- |
1 |
10-129905287-G-A |
c.4817C>T |
p.T1606I |
Missense |
13/15 |
- |
1 |
10-129905289-C-A |
c.4815G>T |
p.M1605I |
Missense |
13/15 |
- |
1 |
10-129905289-C-G |
c.4815G>C |
p.M1605I |
Missense |
13/15 |
- |
2 |
10-129905289-C-T |
c.4815G>A |
p.M1605I |
Missense |
13/15 |
- |
2 |
10-129905290-A-C |
c.4814T>G |
p.M1605R |
Missense |
13/15 |
- |
1 |
10-129905293-G-C |
c.4811C>G |
p.S1604* |
Nonsense |
13/15 |
- |
5 |
10-129905293-G-T |
c.4811C>A |
p.S1604* |
Nonsense |
13/15 |
- |
3 |
10-129905294-A-T |
c.4810T>A |
p.S1604T |
Missense |
13/15 |
- |
1 |
10-129905295-T-A |
c.4809A>T |
p.E1603D |
Missense |
13/15 |
- |
2 |
10-129905295-T-C |
c.4809A>G |
p.E1603= |
Synonymous |
13/15 |
- |
1 |
10-129905295-T-G |
c.4809A>C |
p.E1603D |
Missense |
13/15 |
- |
3 |
10-129905298-C-A |
c.4806G>T |
p.E1602D |
Missense |
13/15 |
- |
1 |
10-129905298-C-G |
c.4806G>C |
p.E1602D |
Missense |
13/15 |
- |
1 |
10-129905299-CT-C |
c.4805del |
p.E1602Gfs*4 |
Frameshift |
13/15 |
- |
1 |
10-129905305-T-C |
c.4799A>G |
p.H1600R |
Missense |
13/15 |
- |
2 |
10-129905308-C-T |
c.4796G>A |
p.G1599D |
Missense |
13/15 |
- |
1 |
10-129905311-C-A |
c.4793G>T |
p.R1598L |
Missense |
13/15 |
- |
2 |
10-129905311-C-T |
c.4793G>A |
p.R1598Q |
Missense |
13/15 |
- |
1 |
10-129905312-G-A |
c.4792C>T |
p.R1598* |
Nonsense |
13/15 |
- |
6 |
10-129905315-T-C |
c.4789A>G |
p.T1597A |
Missense |
13/15 |
- |
1 |
10-129905318-G-T |
c.4786C>A |
p.Q1596K |
Missense |
13/15 |
- |
1 |
10-129905322-G-A |
c.4782C>T |
p.L1594= |
Synonymous |
13/15 |
- |
1 |
10-129905324-G-A |
c.4780C>T |
p.L1594F |
Missense |
13/15 |
- |
1 |
10-129905331-A-G |
c.4773T>C |
p.F1591= |
Synonymous |
13/15 |
- |
2 |
10-129905334-G-A |
c.4770C>T |
p.G1590= |
Synonymous |
13/15 |
- |
3 |
10-129905336-C-T |
c.4768G>A |
p.G1590S |
Missense |
13/15 |
- |
1 |
10-129905337-CA-C |
c.4767del |
p.G1590Afs*16 |
Frameshift |
13/15 |
- |
1 |
10-129905338-G-A |
c.4766C>T |
p.A1589V |
Missense |
13/15 |
- |
1 |
10-129905339-C-T |
c.4765G>A |
p.A1589T |
Missense |
13/15 |
- |
1 |
10-129905345-C-T |
c.4759G>A |
p.D1587N |
Missense |
13/15 |
- |
1 |
10-129905346-T-A |
c.4758A>T |
p.E1586D |
Missense |
13/15 |
- |
2 |
10-129905346-T-G |
c.4758A>C |
p.E1586D |
Missense |
13/15 |
- |
3 |
10-129905348-C-T |
c.4756G>A |
p.E1586K |
Missense |
13/15 |
- |
2 |
10-129905349-T-C |
c.4755A>G |
p.L1585= |
Synonymous |
13/15 |
- |
1 |
10-129905353-G-A |
c.4751C>T |
p.A1584V |
Missense |
13/15 |
- |
1 |
10-129905357-G-A |
c.4747C>T |
p.Q1583* |
Nonsense |
13/15 |
- |
1 |
10-129905359-G-A |
c.4745C>T |
p.A1582V |
Missense |
13/15 |
- |
1 |
10-129905361-CT-C |
c.4742del |
p.K1581Rfs*5 |
Frameshift |
13/15 |
- |
1 |
10-129905366-C-T |
c.4738G>A |
p.E1580K |
Missense |
13/15 |
- |
4 |
10-129905379-T-A |
c.4725A>T |
p.L1575= |
Synonymous |
13/15 |
- |
1 |
10-129905379-T-C |
c.4725A>G |
p.L1575= |
Synonymous |
13/15 |
- |
1 |
10-129905379-T-G |
c.4725A>C |
p.L1575= |
Synonymous |
13/15 |
- |
1 |
10-129905381-G-A |
c.4723C>T |
p.L1575= |
Synonymous |
13/15 |
- |
1 |
10-129905380-A-G |
c.4724T>C |
p.L1575P |
Missense |
13/15 |
- |
1 |
10-129905383-C-G |
c.4721G>C |
p.R1574P |
Missense |
13/15 |
- |
1 |
10-129905383-C-T |
c.4721G>A |
p.R1574Q |
Missense |
13/15 |
- |
2 |
10-129905385-T-C |
c.4719A>G |
p.R1573= |
Synonymous |
13/15 |
- |
1 |
10-129905387-T-A |
c.4717A>T |
p.R1573* |
Nonsense |
13/15 |
- |
1 |
10-129905388-C-A |
c.4716G>T |
p.K1572N |
Missense |
13/15 |
- |
1 |
10-129905388-C-G |
c.4716G>C |
p.K1572N |
Missense |
13/15 |
- |
1 |
10-129905391-TG-T |
c.4713del |
p.S1571Rfs*15 |
Frameshift |
13/15 |
- |
1 |
10-129905392-C-T |
c.4712G>A |
p.S1571N |
Missense |
13/15 |
- |
1 |
10-129905395-C-A |
c.4709G>T |
p.G1570V |
Missense |
13/15 |
- |
1 |
10-129905396-C-G |
c.4708G>C |
p.G1570R |
Missense |
13/15 |
- |
1 |
10-129905396-C-T |
c.4708G>A |
p.G1570S |
Missense |
13/15 |
- |
1 |
10-129905397-A-C |
c.4707T>G |
p.T1569= |
Synonymous |
13/15 |
- |
1 |
10-129905397-A-G |
c.4707T>C |
p.T1569= |
Synonymous |
13/15 |
- |
2 |
10-129905397-A-T |
c.4707T>A |
p.T1569= |
Synonymous |
13/15 |
- |
1 |
10-129905408-C-T |
c.4696G>A |
p.E1566K |
Missense |
13/15 |
- |
1 |
10-129905415-G-A |
c.4689C>T |
p.D1563= |
Synonymous |
13/15 |
- |
1 |
10-129905420-GT-G |
c.4683del |
p.K1561Nfs*4 |
Frameshift |
13/15 |
- |
1 |
10-129905423-T-C |
c.4681A>G |
p.K1561E |
Missense |
13/15 |
- |
4 |
10-129905425-T-C |
c.4679A>G |
p.Q1560R |
Missense |
13/15 |
- |
1 |
10-129905427-C-A |
c.4677G>T |
p.V1559= |
Synonymous |
13/15 |
- |
1 |
10-129905427-C-G |
c.4677G>C |
p.V1559= |
Synonymous |
13/15 |
- |
1 |
10-129905427-C-T |
c.4677G>A |
p.V1559= |
Synonymous |
13/15 |
- |
1 |
10-129905429-C-A |
c.4675G>T |
p.V1559L |
Missense |
13/15 |
- |
4 |
10-129905429-C-T |
c.4675G>A |
p.V1559M |
Missense |
13/15 |
- |
12 |
10-129905435-T-C |
c.4669A>G |
p.T1557A |
Missense |
13/15 |
- |
1 |
10-129905436-TCC-GCT |
c.4666_4668delinsAGC |
p.G1556S |
Missense |
13/15 |
- |
1 |
10-129905436-T-TC |
c.4667dup |
p.T1557Nfs*23 |
Frameshift |
13/15 |
- |
1 |
10-129905442-A-G |
c.4662T>C |
p.F1554= |
Synonymous |
13/15 |
- |
3 |
10-129905447-C-A |
c.4657G>T |
p.A1553S |
Missense |
13/15 |
- |
4 |
10-129905447-C-T |
c.4657G>A |
p.A1553T |
Missense |
13/15 |
- |
4 |
10-129905448-G-A |
c.4656C>T |
p.Y1552= |
Synonymous |
13/15 |
- |
1 |
10-129905451-G-A |
c.4653C>T |
p.I1551= |
Synonymous |
13/15 |
- |
1 |
10-129905451-G-T |
c.4653C>A |
p.I1551= |
Synonymous |
13/15 |
- |
1 |
10-129905460-C-T |
c.4644G>A |
p.E1548= |
Synonymous |
13/15 |
- |
1 |
10-129905465-C-T |
c.4639G>A |
p.G1547S |
Missense |
13/15 |
- |
1 |
10-129905473-G-C |
c.4631C>G |
p.A1544G |
Missense |
13/15 |
- |
1 |
10-129905473-G-T |
c.4631C>A |
p.A1544E |
Missense |
13/15 |
- |
1 |
10-129905474-C-A |
c.4630G>T |
p.A1544S |
Missense |
13/15 |
- |
1 |
10-129905474-C-T |
c.4630G>A |
p.A1544T |
Missense |
13/15 |
- |
1 |
10-129905483-G-A |
c.4621C>T |
p.P1541S |
Missense |
13/15 |
- |
1 |
10-129905483-G-T |
c.4621C>A |
p.P1541T |
Missense |
13/15 |
- |
1 |
10-129905488-T-C |
c.4616A>G |
p.H1539R |
Missense |
13/15 |
- |
2 |
10-129905489-G-C |
c.4615C>G |
p.H1539D |
Missense |
13/15 |
- |
1 |
10-129905491-CAT-C |
c.4612_4613del |
p.M1538Afs*10 |
Frameshift |
13/15 |
- |
1 |
10-129905495-CT-C |
c.4608del |
p.A1537Pfs*9 |
Frameshift |
13/15 |
- |
1 |
10-129905498-T-C |
c.4606A>G |
p.K1536E |
Missense |
13/15 |
- |
1 |
10-129905499-G-C |
c.4605C>G |
p.G1535= |
Synonymous |
13/15 |
- |
1 |
10-129905503-G-A |
c.4601C>T |
p.A1534V |
Missense |
13/15 |
- |
2 |
10-129905504-C-T |
c.4600G>A |
p.A1534T |
Missense |
13/15 |
- |
5 |
10-129905505-T-C |
c.4599A>G |
p.S1533= |
Synonymous |
13/15 |
- |
1 |
10-129905509-G-A |
c.4595C>T |
p.P1532L |
Missense |
13/15 |
- |
1 |
10-129905510-G-A |
c.4594C>T |
p.P1532S |
Missense |
13/15 |
- |
1 |
10-129905512-G-A |
c.4592C>T |
p.T1531I |
Missense |
13/15 |
- |
1 |
10-129905512-TG-T |
c.4592del |
p.T1531Nfs*15 |
Frameshift |
13/15 |
- |
1 |
10-129905515-C-A |
c.4589G>T |
p.R1530L |
Missense |
13/15 |
- |
1 |
10-129905515-C-T |
c.4589G>A |
p.R1530Q |
Missense |
13/15 |
- |
2 |
10-129905519-T-C |
c.4585A>G |
p.K1529E |
Missense |
13/15 |
- |
1 |
10-129905523-G-A |
c.4581C>T |
p.L1527= |
Synonymous |
13/15 |
- |
1 |
10-129905525-G-A |
c.4579C>T |
p.L1527F |
Missense |
13/15 |
- |
1 |
10-129905527-G-C |
c.4577C>G |
p.A1526G |
Missense |
13/15 |
- |
1 |
10-129905528-C-T |
c.4576G>A |
p.A1526T |
Missense |
13/15 |
- |
1 |
10-129905532-G-A |
c.4572C>T |
p.F1524= |
Synonymous |
13/15 |
- |
1 |
10-129905532-G-T |
c.4572C>A |
p.F1524L |
Missense |
13/15 |
- |
3 |
10-129905532-G-C |
c.4572C>G |
p.F1524L |
Missense |
13/15 |
- |
2 |
10-129905534-A-G |
c.4570T>C |
p.F1524L |
Missense |
13/15 |
- |
2 |
10-129905539-T-A |
c.4565A>T |
p.E1522V |
Missense |
13/15 |
- |
1 |
10-129905540-C-A |
c.4564G>T |
p.E1522* |
Nonsense |
13/15 |
- |
1 |
10-129905534-ATTC-A |
c.4567_4569del |
p.E1523del |
InFrameDeletion |
13/15 |
- |
1 |
10-129905543-C-A |
c.4561G>T |
p.E1521* |
Nonsense |
13/15 |
- |
1 |
10-129905546-C-T |
c.4558G>A |
p.V1520I |
Missense |
13/15 |
- |
3 |
10-129905547-G-A |
c.4557C>T |
p.D1519= |
Synonymous |
13/15 |
- |
2 |
10-129905556-C-T |
c.4548G>A |
p.R1516= |
Synonymous |
13/15 |
- |
1 |
10-129905558-T-G |
c.4546A>C |
p.R1516= |
Synonymous |
13/15 |
- |
1 |
10-129905557-CT-TG |
c.4546_4547delinsCA |
p.R1516Q |
Missense |
13/15 |
- |
12 |
10-129905559-G-A |
c.4545C>T |
p.L1515= |
Synonymous |
13/15 |
- |
1 |
10-129905566-C-T |
c.4538G>A |
p.R1513K |
Missense |
13/15 |
- |
1 |
10-129905570-T-A |
c.4534A>T |
p.K1512* |
Nonsense |
13/15 |
- |
1 |
10-129905584-G-A |
c.4520C>T |
p.S1507F |
Missense |
13/15 |
- |
2 |
10-129905594-G-A |
c.4510C>T |
p.P1504S |
Missense |
13/15 |
- |
1 |
10-129905595-T-A |
c.4509A>T |
p.T1503= |
Synonymous |
13/15 |
- |
1 |
10-129905595-T-C |
c.4509A>G |
p.T1503= |
Synonymous |
13/15 |
- |
1 |
10-129905595-T-G |
c.4509A>C |
p.T1503= |
Synonymous |
13/15 |
- |
1 |
10-129905598-G-A |
c.4506C>T |
p.D1502= |
Synonymous |
13/15 |
- |
2 |
10-129905609-C-G |
c.4495G>C |
p.D1499H |
Missense |
13/15 |
- |
2 |
10-129905612-G-A |
c.4492C>T |
p.P1498S |
Missense |
13/15 |
- |
1 |
10-129905612-G-GAGGCCGAGGCGGGCAGATCAC |
c.4491_4492insGTGATCTGCCCGCCTCGGCCT |
p.Q1497_P1498insVICPPRP |
InFrameInsertion |
13/15 |
- |
1 |
10-129905613-T-C |
c.4491A>G |
p.Q1497= |
Synonymous |
13/15 |
- |
1 |
10-129905614-T-A |
c.4490A>T |
p.Q1497L |
Missense |
13/15 |
- |
1 |
10-129905616-T-TGGA |
c.4487_4488insTCC |
p.S1496_Q1497insP |
InFrameInsertion |
13/15 |
- |
1 |
10-129905617-G-A |
c.4487C>T |
p.S1496L |
Missense |
13/15 |
- |
5 |
10-129905619-AT-A |
c.4485del |
p.R1495Sfs*26 |
Frameshift |
13/15 |
- |
1 |
10-129905619-T-G |
c.4485A>C |
p.R1495S |
Missense |
13/15 |
- |
1 |
10-129905623-CA-GT |
c.4480_4481delinsAC |
p.C1494T |
Missense |
13/15 |
- |
1 |
10-129905623-C-T |
c.4481G>A |
p.C1494Y |
Missense |
13/15 |
- |
1 |
10-129905625-G-A |
c.4479C>T |
p.A1493= |
Synonymous |
13/15 |
- |
1 |
10-129905625-G-C |
c.4479C>G |
p.A1493= |
Synonymous |
13/15 |
- |
1 |
10-129905625-G-T |
c.4479C>A |
p.A1493= |
Synonymous |
13/15 |
- |
1 |
10-129905626-G-T |
c.4478C>A |
p.A1493D |
Missense |
13/15 |
- |
1 |
10-129905627-GC-G |
c.4477del |
p.A1493Pfs*28 |
Frameshift |
13/15 |
- |
1 |
10-129905628-CT-C |
c.4476del |
p.I1492Mfs*29 |
Frameshift |
13/15 |
- |
1 |
10-129905628-T-C |
c.4476A>G |
p.I1492M |
Missense |
13/15 |
- |
1 |
10-129905629-AT-A |
c.4474del |
p.I1492* |
Frameshift |
13/15 |
- |
1 |
10-129905633-T-C |
c.4471A>G |
p.K1491E |
Missense |
13/15 |
- |
1 |
10-129905633-TG-T |
c.4470del |
p.I1492* |
Frameshift |
13/15 |
- |
1 |
10-129905634-GGTA-G |
c.4467_4469del |
p.T1490del |
InFrameDeletion |
13/15 |
- |
1 |
10-129905638-G-T |
c.4466C>A |
p.T1489N |
Missense |
13/15 |
- |
1 |
10-129905638-GTT-G |
c.4464_4465del |
p.K1488Nfs*60 |
Frameshift |
13/15 |
- |
1 |
10-129905638-GT-G |
c.4465del |
p.T1489Lfs*4 |
Frameshift |
13/15 |
- |
1 |
10-129905645-C-A |
c.4459G>T |
p.E1487* |
Nonsense |
13/15 |
- |
1 |
10-129905645-C-T |
c.4459G>A |
p.E1487K |
Missense |
13/15 |
- |
1 |
10-129905646-G-C |
c.4458C>G |
p.H1486Q |
Missense |
13/15 |
- |
2 |
10-129905646-G-T |
c.4458C>A |
p.H1486Q |
Missense |
13/15 |
- |
1 |
10-129905648-G-A |
c.4456C>T |
p.H1486Y |
Missense |
13/15 |
- |
1 |
10-129905649-AG-CA |
c.4454_4455delinsTG |
p.T1485M |
Missense |
13/15 |
- |
1 |
10-129905650-G-A |
c.4454C>T |
p.T1485I |
Missense |
13/15 |
- |
1 |
10-129905652-C-A |
c.4452G>T |
p.T1484= |
Synonymous |
13/15 |
- |
1 |
10-129905652-C-G |
c.4452G>C |
p.T1484= |
Synonymous |
13/15 |
- |
1 |
10-129905652-C-T |
c.4452G>A |
p.T1484= |
Synonymous |
13/15 |
- |
1 |
10-129905653-G-A |
c.4451C>T |
p.T1484M |
Missense |
13/15 |
- |
2 |
10-129905654-T-A |
c.4450A>T |
p.T1484S |
Missense |
13/15 |
- |
1 |
10-129905654-T-C |
c.4450A>G |
p.T1484A |
Missense |
13/15 |
- |
3 |
10-129905669-A-G |
c.4435T>C |
p.C1479R |
Missense |
13/15 |
- |
1 |
10-129905671-A-G |
c.4433T>C |
p.V1478A |
Missense |
13/15 |
- |
1 |
10-129905672-C-T |
c.4432G>A |
p.V1478I |
Missense |
13/15 |
- |
1 |
10-129905674-G-A |
c.4430C>T |
p.P1477L |
Missense |
13/15 |
- |
1 |
10-129905679-C-T |
c.4425G>A |
p.Q1475= |
Synonymous |
13/15 |
- |
1 |
10-129905680-T-C |
c.4424A>G |
p.Q1475R |
Missense |
13/15 |
- |
1 |
10-129905686-GA-G |
c.4418del |
p.L1473Pfs*20 |
Frameshift |
13/15 |
- |
1 |
10-129905689-CT-C |
c.4415del |
p.E1472Gfs*21 |
Frameshift |
13/15 |
- |
1 |
10-129905689-T-C |
c.4415A>G |
p.E1472G |
Missense |
13/15 |
- |
1 |
10-129905690-C-A |
c.4414G>T |
p.E1472* |
Nonsense |
13/15 |
- |
1 |
10-129905695-A-C |
c.4409T>G |
p.L1470W |
Missense |
13/15 |
- |
1 |
10-129905698-C-G |
c.4406G>C |
p.G1469A |
Missense |
13/15 |
- |
1 |
10-129905701-GC-CA |
c.4402_4403delinsTG |
p.A1468C |
Missense |
13/15 |
- |
1 |
10-129905704-A-G |
c.4400T>C |
p.L1467P |
Missense |
13/15 |
- |
1 |
10-129905704-A-T |
c.4400T>A |
p.L1467Q |
Missense |
13/15 |
- |
1 |
10-129905708-C-T |
c.4396G>A |
p.D1466N |
Missense |
13/15 |
- |
1 |
10-129905709-T-C |
c.4395A>G |
p.E1465= |
Synonymous |
13/15 |
- |
1 |
10-129905710-TTCTA-T |
c.4391_4394del |
p.L1464Qfs*6 |
Frameshift |
13/15 |
- |
1 |
10-129905711-C-G |
c.4393G>C |
p.E1465Q |
Missense |
13/15 |
- |
4 |
10-129905716-G-A |
c.4388C>T |
p.P1463L |
Missense |
13/15 |
- |
3 |
10-129905721-G-A |
c.4383C>T |
p.A1461= |
Synonymous |
13/15 |
- |
1 |
10-129905723-C-T |
c.4381G>A |
p.A1461T |
Missense |
13/15 |
- |
2 |
10-129905724-C-T |
c.4380G>A |
p.K1460= |
Synonymous |
13/15 |
- |
1 |
10-129905725-T-C |
c.4379A>G |
p.K1460R |
Missense |
13/15 |
- |
3 |
10-129905729-C-T |
c.4375G>A |
p.E1459K |
Missense |
13/15 |
- |
1 |
10-129905736-TTTTTG-T |
c.4364_4368del |
p.P1455Hfs*2 |
Frameshift |
13/15 |
- |
1 |
10-129905738-T-TTAGAGAAA |
c.4365_4366insTTTCTCTA |
p.K1456Ffs*3 |
Frameshift |
13/15 |
- |
1 |
10-129905742-G-C |
c.4362C>G |
p.H1454Q |
Missense |
13/15 |
- |
1 |
10-129905744-GC-G |
c.4359del |
p.R1453Sfs*12 |
Frameshift |
13/15 |
- |
1 |
10-129905744-G-GC |
c.4359dup |
p.H1454Afs*5 |
Frameshift |
13/15 |
- |
1 |
10-129905750-T-TA |
c.4353_4354insT |
p.K1452* |
Nonsense |
13/15 |
- |
1 |
10-129905753-T-A |
c.4351A>T |
p.S1451C |
Missense |
13/15 |
- |
1 |
10-129905753-T-TGCTGGG |
c.4350_4351insCCCAGC |
p.G1450_S1451insPS |
InFrameInsertion |
13/15 |
- |
2 |
10-129905753-T-TTAAAA |
c.4350_4351insTTTTA |
p.S1451Ffs*2 |
Frameshift |
13/15 |
- |
1 |
10-129905747-TCTTGCTACCAGTTACA-T |
c.4341_4356del |
p.S1447Rfs*13 |
Frameshift |
13/15 |
- |
1 |
10-129905754-A-C |
c.4350T>G |
p.G1450= |
Synonymous |
13/15 |
- |
1 |
10-129905754-A-G |
c.4350T>C |
p.G1450= |
Synonymous |
13/15 |
- |
1 |
10-129905754-A-T |
c.4350T>A |
p.G1450= |
Synonymous |
13/15 |
- |
2 |
10-129905755-C-CCTA |
c.4348_4349insTAG |
p.T1449_G1450insV |
InFrameInsertion |
13/15 |
- |
1 |
10-129905758-G-GCC |
c.4345_4346insGG |
p.T1449Rfs*17 |
Frameshift |
13/15 |
- |
1 |
10-129905758-GT-G |
c.4345del |
p.T1449Lfs*16 |
Frameshift |
13/15 |
- |
1 |
10-129905761-A-G |
c.4343T>C |
p.V1448A |
Missense |
13/15 |
- |
4 |
10-129905762-C-CTTGAA |
c.4341_4342insTTCAA |
p.V1448Ffs*3 |
Frameshift |
13/15 |
- |
1 |
10-129905763-A-G |
c.4341T>C |
p.S1447= |
Synonymous |
13/15 |
- |
2 |
10-129905771-C-T |
c.4333G>A |
p.A1445T |
Missense |
13/15 |
- |
1 |
10-129905773-G-A |
c.4331C>T |
p.P1444L |
Missense |
13/15 |
- |
1 |
10-129905774-G-A |
c.4330C>T |
p.P1444S |
Missense |
13/15 |
- |
4 |
10-129905776-T-C |
c.4328A>G |
p.D1443G |
Missense |
13/15 |
- |
1 |
10-129905778-C-T |
c.4326G>A |
p.L1442= |
Synonymous |
13/15 |
- |
1 |
10-129905786-GT-G |
c.4317del |
p.K1439Nfs*10 |
Frameshift |
13/15 |
- |
1 |
10-129905790-TTGCAGTTTCC-T |
c.4305_4314del |
p.E1436Nfs*10 |
Frameshift |
13/15 |
- |
1 |
10-129905791-G-C |
c.4313C>G |
p.A1438G |
Missense |
13/15 |
- |
2 |
10-129905792-C-A |
c.4312G>T |
p.A1438S |
Missense |
13/15 |
- |
1 |
10-129905792-GC-G |
c.4312del |
p.A1438Qfs*11 |
Frameshift |
13/15 |
- |
1 |
10-129905793-A-C |
c.4311T>G |
p.T1437= |
Synonymous |
13/15 |
- |
2 |
10-129905793-A-G |
c.4311T>C |
p.T1437= |
Synonymous |
13/15 |
- |
1 |
10-129905793-A-T |
c.4311T>A |
p.T1437= |
Synonymous |
13/15 |
- |
1 |
10-129905794-G-A |
c.4310C>T |
p.T1437I |
Missense |
13/15 |
- |
1 |
10-129905796-T-C |
c.4308A>G |
p.E1436= |
Synonymous |
13/15 |
- |
1 |
10-129905797-T-C |
c.4307A>G |
p.E1436G |
Missense |
13/15 |
- |
1 |
10-129905798-C-T |
c.4306G>A |
p.E1436K |
Missense |
13/15 |
- |
1 |
10-129905799-C-T |
c.4305G>A |
p.R1435= |
Synonymous |
13/15 |
- |
1 |
10-129905800-C-G |
c.4304G>C |
p.R1435T |
Missense |
13/15 |
- |
1 |
10-129905800-CT-TG |
c.4303_4304delinsCA |
p.R1435Q |
Missense |
13/15 |
- |
1 |
10-129905801-T-TGA |
c.4302_4303insTC |
p.R1435Sfs*15 |
Frameshift |
13/15 |
- |
1 |
10-129905805-C-T |
c.4299G>A |
p.A1433= |
Synonymous |
13/15 |
- |
1 |
10-129905806-G-A |
c.4298C>T |
p.A1433V |
Missense |
13/15 |
- |
7 |
10-129905807-C-T |
c.4297G>A |
p.A1433T |
Missense |
13/15 |
- |
6 |
10-129905808-G-A |
c.4296C>T |
p.N1432= |
Synonymous |
13/15 |
- |
1 |
10-129905809-T-C |
c.4295A>G |
p.N1432S |
Missense |
13/15 |
- |
1 |
10-129905810-T-C |
c.4294A>G |
p.N1432D |
Missense |
13/15 |
- |
1 |
10-129905814-G-A |
c.4290C>T |
p.S1430= |
Synonymous |
13/15 |
- |
1 |
10-129905814-TG-T |
c.4290del |
p.S1430Rfs*19 |
Frameshift |
13/15 |
- |
1 |
10-129905819-T-C |
c.4285A>G |
p.K1429E |
Missense |
13/15 |
- |
4 |
10-129905820-A-C |
c.4284T>G |
p.D1428E |
Missense |
13/15 |
- |
1 |
10-129905820-A-T |
c.4284T>A |
p.D1428E |
Missense |
13/15 |
- |
1 |
10-129905821-AT-A |
c.4283del |
p.D1428Vfs*21 |
Frameshift |
13/15 |
- |
1 |
10-129905821-T-C |
c.4283A>G |
p.D1428G |
Missense |
13/15 |
- |
1 |
10-129905822-C-T |
c.4282G>A |
p.D1428N |
Missense |
13/15 |
- |
1 |
10-129905824-CT-C |
c.4280del |
p.E1427Gfs*22 |
Frameshift |
13/15 |
- |
1 |
10-129905827-C-G |
c.4277G>C |
p.G1426A |
Missense |
13/15 |
- |
1 |
10-129905826-ACCT-A |
c.4275_4277del |
p.G1426del |
InFrameDeletion |
13/15 |
- |
1 |
10-129905830-C-T |
c.4274G>A |
p.G1425E |
Missense |
13/15 |
- |
1 |
10-129905832-TG-T |
c.4271del |
p.P1424Qfs*25 |
Frameshift |
13/15 |
- |
1 |
10-129905836-A-G |
c.4268T>C |
p.V1423A |
Missense |
13/15 |
- |
1 |
10-129905837-C-T |
c.4267G>A |
p.V1423I |
Missense |
13/15 |
- |
2 |
10-129905839-T-C |
c.4265A>G |
p.K1422R |
Missense |
13/15 |
- |
1 |
10-129905840-T-C |
c.4264A>G |
p.K1422E |
Missense |
13/15 |
- |
1 |
10-129905843-C-G |
c.4261G>C |
p.D1421H |
Missense |
13/15 |
- |
1 |
10-129905843-TC-T |
c.4261del |
p.D1421Ifs*28 |
Frameshift |
13/15 |
- |
1 |
10-129905844-CT-C |
c.4260del |
p.D1421Ifs*28 |
Frameshift |
13/15 |
- |
1 |
10-129905844-T-C |
c.4260A>G |
p.T1420= |
Synonymous |
13/15 |
- |
1 |
10-129905845-G-C |
c.4259C>G |
p.T1420R |
Missense |
13/15 |
- |
2 |
10-129905847-G-A |
c.4257C>T |
p.H1419= |
Synonymous |
13/15 |
- |
1 |
10-129905848-T-G |
c.4256A>C |
p.H1419P |
Missense |
13/15 |
- |
1 |
10-129905849-G-T |
c.4255C>A |
p.H1419N |
Missense |
13/15 |
- |
2 |
10-129905851-G-A |
c.4253C>T |
p.T1418I |
Missense |
13/15 |
- |
1 |
10-129905853-G-A |
c.4251C>T |
p.T1417= |
Synonymous |
13/15 |
- |
1 |
10-129905859-CCC-ACA |
c.4243_4245delinsTGT |
p.G1415C |
Missense |
13/15 |
- |
1 |
10-129905857-TC-T |
c.4246del |
p.E1416Kfs*33 |
Frameshift |
13/15 |
- |
3 |
10-129905862-CT-C |
c.4242del |
p.E1416Kfs*33 |
Frameshift |
13/15 |
- |
1 |
10-129905864-GA-G |
c.4240del |
p.S1414Qfs*35 |
Frameshift |
13/15 |
- |
1 |
10-129905870-G-C |
c.4234C>G |
p.Q1412E |
Missense |
13/15 |
- |
2 |
10-129905871-GT-G |
c.4233del |
p.Q1412Rfs*37 |
Frameshift |
13/15 |
- |
1 |
10-129905874-G-A |
c.4230C>T |
p.L1410= |
Synonymous |
13/15 |
- |
2 |
10-129905874-G-C |
c.4230C>G |
p.L1410= |
Synonymous |
13/15 |
- |
1 |
10-129905874-G-T |
c.4230C>A |
p.L1410= |
Synonymous |
13/15 |
- |
1 |
10-129905876-AG-A |
c.4228del |
p.L1410Sfs*39 |
Frameshift |
13/15 |
- |
1 |
10-129905876-G-A |
c.4228C>T |
p.L1410F |
Missense |
13/15 |
- |
1 |
10-129905878-T-C |
c.4226A>G |
p.K1409R |
Missense |
13/15 |
- |
1 |
10-129905879-T-A |
c.4225A>T |
p.K1409* |
Nonsense |
13/15 |
- |
1 |
10-129905880-C-A |
c.4224G>T |
p.K1408N |
Missense |
13/15 |
- |
3 |
10-129905880-C-G |
c.4224G>C |
p.K1408N |
Missense |
13/15 |
- |
2 |
10-129905882-T-A |
c.4222A>T |
p.K1408* |
Nonsense |
13/15 |
- |
1 |
10-129905883-C-A |
c.4221G>T |
p.L1407= |
Synonymous |
13/15 |
- |
2 |
10-129905883-C-G |
c.4221G>C |
p.L1407= |
Synonymous |
13/15 |
- |
1 |
10-129905883-C-T |
c.4221G>A |
p.L1407= |
Synonymous |
13/15 |
- |
2 |
10-129905885-G-A |
c.4219C>T |
p.L1407= |
Synonymous |
13/15 |
- |
1 |
10-129905884-AGGGCT-A |
c.4215_4219del |
p.A1406Efs*15 |
Frameshift |
13/15 |
- |
1 |
10-129905888-C-A |
c.4216G>T |
p.A1406S |
Missense |
13/15 |
- |
1 |
10-129905895-C-T |
c.4209G>A |
p.E1403= |
Synonymous |
13/15 |
- |
2 |
10-129905896-T-A |
c.4208A>T |
p.E1403V |
Missense |
13/15 |
- |
23 |
10-129905897-C-G |
c.4207G>C |
p.E1403Q |
Missense |
13/15 |
- |
1 |
10-129905898-C-T |
c.4206G>A |
p.K1402= |
Synonymous |
13/15 |
- |
2 |
10-129905901-C-T |
c.4203G>A |
p.Q1401= |
Synonymous |
13/15 |
- |
1 |
10-129905906-C-A |
c.4198G>T |
p.V1400L |
Missense |
13/15 |
- |
4 |
10-129905906-C-G |
c.4198G>C |
p.V1400L |
Missense |
13/15 |
- |
2 |
10-129905906-C-T |
c.4198G>A |
p.V1400I |
Missense |
13/15 |
- |
1 |
10-129905907-G-A |
c.4197C>T |
p.D1399= |
Synonymous |
13/15 |
- |
2 |
10-129905908-GT-G |
c.4196del |
p.D1399Afs*9 |
Frameshift |
13/15 |
- |
1 |
10-129905909-C-T |
c.4195G>A |
p.D1399N |
Missense |
13/15 |
- |
2 |
10-129905911-CCT-C |
c.4192_4193del |
p.R1398Gfs*24 |
Frameshift |
13/15 |
- |
1 |
10-129905913-T-A |
c.4191A>T |
p.K1397N |
Missense |
13/15 |
- |
1 |
10-129905911-C-CT |
c.4192dup |
p.R1398Kfs*25 |
Frameshift |
13/15 |
- |
1 |
10-129905911-CT-C |
c.4192del |
p.R1398Gfs*10 |
Frameshift |
13/15 |
- |
1 |
10-129905916-TC-T |
c.4188del |
p.R1398Gfs*10 |
Frameshift |
13/15 |
- |
1 |
10-129905919-CAA-C |
c.4183_4184del |
p.L1395Gfs*27 |
Frameshift |
13/15 |
- |
1 |
10-129905919-CA-C |
c.4184del |
p.L1395Wfs*13 |
Frameshift |
13/15 |
- |
1 |
10-129905923-AGG-A |
c.4180_4181del |
p.P1394Ffs*28 |
Frameshift |
13/15 |
- |
1 |
10-129905924-G-A |
c.4180C>T |
p.P1394S |
Missense |
13/15 |
- |
1 |
10-129905938-C-CG |
c.4165_4166insC |
p.R1389Tfs*34 |
Frameshift |
13/15 |
- |
1 |
10-129905941-C-T |
c.4163G>A |
p.R1388K |
Missense |
13/15 |
- |
1 |
10-129905945-T-G |
c.4159A>C |
p.T1387P |
Missense |
13/15 |
- |
1 |
10-129905947-C-T |
c.4157G>A |
p.S1386N |
Missense |
13/15 |
- |
1 |
10-129905948-T-A |
c.4156A>T |
p.S1386C |
Missense |
13/15 |
- |
1 |
10-129905948-T-C |
c.4156A>G |
p.S1386G |
Missense |
13/15 |
- |
1 |
10-129905954-G-T |
c.4150C>A |
p.P1384T |
Missense |
13/15 |
- |
1 |
10-129905956-G-A |
c.4148C>T |
p.T1383I |
Missense |
13/15 |
- |
1 |
10-129905956-G-GT |
c.4147dup |
p.T1383Nfs*40 |
Frameshift |
13/15 |
- |
1 |
10-129905961-T-A |
c.4143A>T |
p.A1381= |
Synonymous |
13/15 |
- |
1 |
10-129905961-T-C |
c.4143A>G |
p.A1381= |
Synonymous |
13/15 |
- |
1 |
10-129905961-T-G |
c.4143A>C |
p.A1381= |
Synonymous |
13/15 |
- |
1 |
10-129905962-G-A |
c.4142C>T |
p.A1381V |
Missense |
13/15 |
- |
2 |
10-129905962-TGC-T |
c.4141_4142del |
p.A1381Rfs*41 |
Frameshift |
13/15 |
- |
1 |
10-129905963-C-T |
c.4141G>A |
p.A1381T |
Missense |
13/15 |
- |
2 |
10-129905967-T-A |
c.4137A>T |
p.E1379D |
Missense |
13/15 |
- |
1 |
10-129905967-TTCTGGTGGAGAAGA-T |
c.4123_4136del |
p.S1375Ifs*43 |
Frameshift |
13/15 |
- |
1 |
10-129905969-C-A |
c.4135G>T |
p.E1379* |
Nonsense |
13/15 |
- |
1 |
10-129905969-C-G |
c.4135G>C |
p.E1379Q |
Missense |
13/15 |
- |
1 |
10-129905969-C-T |
c.4135G>A |
p.E1379K |
Missense |
13/15 |
- |
4 |
10-129905972-G-A |
c.4132C>T |
p.P1378S |
Missense |
13/15 |
- |
4 |
10-129905976-A-C |
c.4128T>G |
p.S1376= |
Synonymous |
13/15 |
- |
2 |
10-129905976-A-G |
c.4128T>C |
p.S1376= |
Synonymous |
13/15 |
- |
1 |
10-129905976-A-T |
c.4128T>A |
p.S1376= |
Synonymous |
13/15 |
- |
1 |
10-129905977-G-T |
c.4127C>A |
p.S1376Y |
Missense |
13/15 |
- |
2 |
10-129905978-AAGATTCGC-A |
c.4118_4125del |
p.C1373Ffs*47 |
Frameshift |
13/15 |
- |
1 |
10-129905984-C-A |
c.4120G>T |
p.E1374* |
Nonsense |
13/15 |
- |
1 |
10-129905984-C-T |
c.4120G>A |
p.E1374K |
Missense |
13/15 |
- |
5 |
10-129905985-G-T |
c.4119C>A |
p.C1373* |
Nonsense |
13/15 |
- |
2 |
10-129905989-G-T |
c.4115C>A |
p.P1372H |
Missense |
13/15 |
- |
1 |
10-129905990-G-A |
c.4114C>T |
p.P1372S |
Missense |
13/15 |
- |
1 |
10-129905990-G-T |
c.4114C>A |
p.P1372T |
Missense |
13/15 |
- |
1 |
10-129905992-A-T |
c.4112T>A |
p.M1371K |
Missense |
13/15 |
- |
1 |
10-129905995-T-G |
c.4109A>C |
p.K1370T |
Missense |
13/15 |
- |
2 |
10-129906000-A-G |
c.4104T>C |
p.T1368= |
Synonymous |
13/15 |
- |
1 |
10-129906001-G-A |
c.4103C>T |
p.T1368I |
Missense |
13/15 |
- |
1 |
10-129906002-T-C |
c.4102A>G |
p.T1368A |
Missense |
13/15 |
- |
1 |
10-129906007-C-G |
c.4097G>C |
p.G1366A |
Missense |
13/15 |
- |
1 |
10-129906008-C-T |
c.4096G>A |
p.G1366S |
Missense |
13/15 |
- |
1 |
10-129906010-G-A |
c.4094C>T |
p.A1365V |
Missense |
13/15 |
- |
2 |
10-129906011-C-T |
c.4093G>A |
p.A1365T |
Missense |
13/15 |
- |
1 |
10-129906013-G-C |
c.4091C>G |
p.A1364G |
Missense |
13/15 |
- |
1 |
10-129906014-C-G |
c.4090G>C |
p.A1364P |
Missense |
13/15 |
- |
1 |
10-129906021-T-A |
c.4083A>T |
p.E1361D |
Missense |
13/15 |
- |
1 |
10-129906021-T-G |
c.4083A>C |
p.E1361D |
Missense |
13/15 |
- |
1 |
10-129906023-C-T |
c.4081G>A |
p.E1361K |
Missense |
13/15 |
- |
2 |
10-129906026-CAGT-C |
c.4075_4077del |
p.T1359del |
InFrameDeletion |
13/15 |
- |
1 |
10-129906028-GT-CA |
c.4075_4076delinsTG |
p.T1359C |
Missense |
13/15 |
- |
1 |
10-129906031-T-A |
c.4073A>T |
p.H1358L |
Missense |
13/15 |
- |
3 |
10-129906034-C-T |
c.4070G>A |
p.G1357D |
Missense |
13/15 |
- |
1 |
10-129906036-A-C |
c.4068T>G |
p.P1356= |
Synonymous |
13/15 |
- |
2 |
10-129906036-A-G |
c.4068T>C |
p.P1356= |
Synonymous |
13/15 |
- |
2 |
10-129906036-A-T |
c.4068T>A |
p.P1356= |
Synonymous |
13/15 |
- |
2 |
10-129906037-G-A |
c.4067C>T |
p.P1356L |
Missense |
13/15 |
- |
1 |
10-129906037-G-C |
c.4067C>G |
p.P1356R |
Missense |
13/15 |
- |
1 |
10-129906048-G-A |
c.4056C>T |
p.L1352= |
Synonymous |
13/15 |
- |
2 |
10-129906053-C-G |
c.4051G>C |
p.E1351Q |
Missense |
13/15 |
- |
1 |
10-129906053-C-T |
c.4051G>A |
p.E1351K |
Missense |
13/15 |
- |
2 |
10-129906056-T-C |
c.4048A>G |
p.K1350E |
Missense |
13/15 |
- |
1 |
10-129906061-C-G |
c.4043G>C |
p.G1348A |
Missense |
13/15 |
- |
1 |
10-129906064-G-A |
c.4040C>T |
p.T1347I |
Missense |
13/15 |
- |
1 |
10-129906065-T-A |
c.4039A>T |
p.T1347S |
Missense |
13/15 |
- |
1 |
10-129906068-G-A |
c.4036C>T |
p.L1346= |
Synonymous |
13/15 |
- |
3 |
10-129906069-G-T |
c.4035C>A |
p.D1345E |
Missense |
13/15 |
- |
1 |
10-129906071-C-A |
c.4033G>T |
p.D1345Y |
Missense |
13/15 |
- |
1 |
10-129906079-G-C |
c.4025C>G |
p.A1342G |
Missense |
13/15 |
- |
1 |
10-129906081-C-A |
c.4023G>T |
p.Q1341H |
Missense |
13/15 |
- |
1 |
10-129906081-C-G |
c.4023G>C |
p.Q1341H |
Missense |
13/15 |
- |
1 |
10-129906082-T-C |
c.4022A>G |
p.Q1341R |
Missense |
13/15 |
- |
1 |
10-129906084-G-A |
c.4020C>T |
p.A1340= |
Synonymous |
13/15 |
- |
2 |
10-129906084-G-C |
c.4020C>G |
p.A1340= |
Synonymous |
13/15 |
- |
1 |
10-129906084-G-T |
c.4020C>A |
p.A1340= |
Synonymous |
13/15 |
- |
1 |
10-129906087-C-A |
c.4017G>T |
p.E1339D |
Missense |
13/15 |
- |
1 |
10-129906089-C-T |
c.4015G>A |
p.E1339K |
Missense |
13/15 |
- |
1 |
10-129906092-C-G |
c.4012G>C |
p.E1338Q |
Missense |
13/15 |
- |
3 |
10-129906092-C-T |
c.4012G>A |
p.E1338K |
Missense |
13/15 |
- |
6 |
10-129906093-C-T |
c.4011G>A |
p.K1337= |
Synonymous |
13/15 |
- |
2 |
10-129906098-G-A |
c.4006C>T |
p.P1336S |
Missense |
13/15 |
- |
3 |
10-129906098-G-C |
c.4006C>G |
p.P1336A |
Missense |
13/15 |
- |
1 |
10-129906099-A-C |
c.4005T>G |
p.T1335= |
Synonymous |
13/15 |
- |
1 |
10-129906099-A-G |
c.4005T>C |
p.T1335= |
Synonymous |
13/15 |
- |
1 |
10-129906099-A-T |
c.4005T>A |
p.T1335= |
Synonymous |
13/15 |
- |
1 |
10-129906100-G-T |
c.4004C>A |
p.T1335N |
Missense |
13/15 |
- |
1 |
10-129906102-T-A |
c.4002A>T |
p.Q1334H |
Missense |
13/15 |
- |
3 |
10-129906102-T-G |
c.4002A>C |
p.Q1334H |
Missense |
13/15 |
- |
5 |
10-129906102-TTTGTGGCCGTCTCTTG-T |
c.3987_4002del |
p.S1329Rfs*13 |
Frameshift |
13/15 |
- |
1 |
10-129906107-G-T |
c.3997C>A |
p.P1333T |
Missense |
13/15 |
- |
1 |
10-129906111-T-C |
c.3993A>G |
p.R1331= |
Synonymous |
13/15 |
- |
1 |
10-129906113-T-G |
c.3991A>C |
p.R1331= |
Synonymous |
13/15 |
- |
1 |
10-129906113-T-A |
c.3991A>T |
p.R1331* |
Nonsense |
13/15 |
- |
1 |
10-129906114-C-A |
c.3990G>T |
p.K1330N |
Missense |
13/15 |
- |
2 |
10-129906114-C-G |
c.3990G>C |
p.K1330N |
Missense |
13/15 |
- |
3 |
10-129906118-C-A |
c.3986G>T |
p.S1329I |
Missense |
13/15 |
- |
1 |
10-129906118-C-T |
c.3986G>A |
p.S1329N |
Missense |
13/15 |
- |
1 |
10-129906120-G-A |
c.3984C>T |
p.G1328= |
Synonymous |
13/15 |
- |
1 |
10-129906121-C-A |
c.3983G>T |
p.G1328V |
Missense |
13/15 |
- |
1 |
10-129906122-C-T |
c.3982G>A |
p.G1328S |
Missense |
13/15 |
- |
5 |
10-129906123-G-A |
c.3981C>T |
p.T1327= |
Synonymous |
13/15 |
- |
5 |
10-129906123-G-C |
c.3981C>G |
p.T1327= |
Synonymous |
13/15 |
- |
3 |
10-129906123-G-T |
c.3981C>A |
p.T1327= |
Synonymous |
13/15 |
- |
4 |
10-129906130-T-C |
c.3974A>G |
p.N1325S |
Missense |
13/15 |
- |
2 |
10-129906131-T-G |
c.3973A>C |
p.N1325H |
Missense |
13/15 |
- |
1 |
10-129906132-C-A |
c.3972G>T |
p.E1324D |
Missense |
13/15 |
- |
2 |
10-129906132-C-G |
c.3972G>C |
p.E1324D |
Missense |
13/15 |
- |
2 |
10-129906130-TTC-T |
c.3972_3973del |
p.N1325Lfs*12 |
Frameshift |
13/15 |
- |
2 |
10-129906134-C-A |
c.3970G>T |
p.E1324* |
Nonsense |
13/15 |
- |
1 |
10-129906137-T-A |
c.3967A>T |
p.T1323S |
Missense |
13/15 |
- |
1 |
10-129906139-A-G |
c.3965T>C |
p.L1322P |
Missense |
13/15 |
- |
1 |
10-129906140-G-A |
c.3964C>T |
p.L1322= |
Synonymous |
13/15 |
- |
1 |
10-129906146-GT-G |
c.3957del |
p.K1319Nfs*4 |
Frameshift |
13/15 |
- |
1 |
10-129906150-C-T |
c.3954G>A |
p.Q1318= |
Synonymous |
13/15 |
- |
1 |
10-129906153-CAC-GAT |
c.3949_3951delinsATC |
p.V1317I |
Missense |
13/15 |
- |
1 |
10-129906155-C-T |
c.3949G>A |
p.V1317M |
Missense |
13/15 |
- |
2 |
10-129906158-G-C |
c.3946C>G |
p.P1316A |
Missense |
13/15 |
- |
2 |
10-129906159-A-C |
c.3945T>G |
p.T1315= |
Synonymous |
13/15 |
- |
1 |
10-129906159-A-G |
c.3945T>C |
p.T1315= |
Synonymous |
13/15 |
- |
1 |
10-129906159-A-T |
c.3945T>A |
p.T1315= |
Synonymous |
13/15 |
- |
1 |
10-129906160-G-C |
c.3944C>G |
p.T1315S |
Missense |
13/15 |
- |
1 |
10-129906161-T-C |
c.3943A>G |
p.T1315A |
Missense |
13/15 |
- |
2 |
10-129906160-G-GT |
c.3943dup |
p.T1315Nfs*23 |
Frameshift |
13/15 |
- |
1 |
10-129906163-C-T |
c.3941G>A |
p.G1314E |
Missense |
13/15 |
- |
1 |
10-129906164-CCA-C |
c.3938_3939del |
p.V1313Gfs*24 |
Frameshift |
13/15 |
- |
1 |
10-129906167-C-T |
c.3937G>A |
p.V1313M |
Missense |
13/15 |
- |
2 |
10-129906167-CA-C |
c.3936del |
p.F1312Lfs*11 |
Frameshift |
13/15 |
- |
1 |
10-129906171-AT-A |
c.3933del |
p.F1312Lfs*11 |
Frameshift |
13/15 |
- |
1 |
10-129906173-ATGATG-A |
c.3927_3931del |
p.I1311Cfs*25 |
Frameshift |
13/15 |
- |
1 |
10-129906174-G-C |
c.3930C>G |
p.I1310M |
Missense |
13/15 |
- |
1 |
10-129906176-T-A |
c.3928A>T |
p.I1310F |
Missense |
13/15 |
- |
1 |
10-129906182-C-CT |
c.3921dup |
p.D1308Rfs*30 |
Frameshift |
13/15 |
- |
1 |
10-129906186-C-A |
c.3918G>T |
p.E1306D |
Missense |
13/15 |
- |
1 |
10-129906186-C-G |
c.3918G>C |
p.E1306D |
Missense |
13/15 |
- |
1 |
10-129906188-C-A |
c.3916G>T |
p.E1306* |
Nonsense |
13/15 |
- |
5 |
10-129906189-T-A |
c.3915A>T |
p.E1305D |
Missense |
13/15 |
- |
1 |
10-129906189-T-G |
c.3915A>C |
p.E1305D |
Missense |
13/15 |
- |
1 |
10-129906191-C-G |
c.3913G>C |
p.E1305Q |
Missense |
13/15 |
- |
1 |
10-129906190-TCA-T |
c.3912_3913del |
p.E1305Rfs*32 |
Frameshift |
13/15 |
- |
2 |
10-129906191-C-CA |
c.3912dup |
p.E1305* |
Nonsense |
13/15 |
- |
1 |
10-129906194-C-A |
c.3910G>T |
p.G1304C |
Missense |
13/15 |
- |
1 |
10-129906194-C-CT |
c.3909dup |
p.G1304Rfs*2 |
Frameshift |
13/15 |
- |
1 |
10-129906194-CTACTGATGGT-C |
c.3900_3909del |
p.P1301Vfs*19 |
Frameshift |
13/15 |
- |
1 |
10-129906199-TG-T |
c.3905del |
p.S1302* |
Frameshift |
13/15 |
- |
1 |
10-129906200-GA-G |
c.3904del |
p.S1302Qfs*2 |
Frameshift |
13/15 |
- |
1 |
10-129906203-G-T |
c.3901C>A |
p.P1301T |
Missense |
13/15 |
- |
1 |
10-129906210-C-A |
c.3894G>T |
p.T1298= |
Synonymous |
13/15 |
- |
1 |
10-129906210-C-G |
c.3894G>C |
p.T1298= |
Synonymous |
13/15 |
- |
1 |
10-129906210-C-T |
c.3894G>A |
p.T1298= |
Synonymous |
13/15 |
- |
2 |
10-129906211-G-A |
c.3893C>T |
p.T1298M |
Missense |
13/15 |
- |
2 |
10-129906221-C-A |
c.3883G>T |
p.A1295S |
Missense |
13/15 |
- |
1 |
10-129906223-T-G |
c.3881A>C |
p.K1294T |
Missense |
13/15 |
- |
1 |
10-129906223-TT-AG |
c.3880_3881delinsCT |
p.K1294L |
Missense |
13/15 |
- |
1 |
10-129906229-G-A |
c.3875C>T |
p.A1292V |
Missense |
13/15 |
- |
2 |
10-129906229-G-C |
c.3875C>G |
p.A1292G |
Missense |
13/15 |
- |
1 |
10-129906231-T-A |
c.3873A>T |
p.S1291= |
Synonymous |
13/15 |
- |
1 |
10-129906248-CT-C |
c.3856del |
p.R1286Gfs*3 |
Frameshift |
13/15 |
- |
1 |
10-129906249-GCA-CTC |
c.3853_3855delinsGAG |
p.C1285E |
Missense |
13/15 |
- |
1 |
10-129906252-C-A |
c.3852G>T |
p.A1284= |
Synonymous |
13/15 |
- |
1 |
10-129906252-C-T |
c.3852G>A |
p.A1284= |
Synonymous |
13/15 |
- |
2 |
10-129906253-G-A |
c.3851C>T |
p.A1284V |
Missense |
13/15 |
- |
1 |
10-129906254-C-A |
c.3850G>T |
p.A1284S |
Missense |
13/15 |
- |
1 |
10-129906255-T-C |
c.3849A>G |
p.L1283= |
Synonymous |
13/15 |
- |
1 |
10-129906257-A-G |
c.3847T>C |
p.L1283= |
Synonymous |
13/15 |
- |
1 |
10-129906261-T-A |
c.3843A>T |
p.E1281D |
Missense |
13/15 |
- |
1 |
10-129906261-T-G |
c.3843A>C |
p.E1281D |
Missense |
13/15 |
- |
1 |
10-129906263-C-T |
c.3841G>A |
p.E1281K |
Missense |
13/15 |
- |
2 |
10-129906264-TCC-ACA |
c.3838_3840delinsTGT |
p.G1280C |
Missense |
13/15 |
- |
1 |
10-129906266-C-T |
c.3838G>A |
p.G1280R |
Missense |
13/15 |
- |
1 |
10-129906269-C-G |
c.3835G>C |
p.E1279Q |
Missense |
13/15 |
- |
1 |
10-129906269-C-T |
c.3835G>A |
p.E1279K |
Missense |
13/15 |
- |
2 |
10-129906273-A-G |
c.3831T>C |
p.D1277= |
Synonymous |
13/15 |
- |
1 |
10-129906277-G-A |
c.3827C>T |
p.A1276V |
Missense |
13/15 |
- |
2 |
10-129906285-G-A |
c.3819C>T |
p.I1273= |
Synonymous |
13/15 |
- |
1 |
10-129906285-G-T |
c.3819C>A |
p.I1273= |
Synonymous |
13/15 |
- |
1 |
10-129906292-C-T |
c.3812G>A |
p.R1271K |
Missense |
13/15 |
- |
3 |
10-129906293-T-A |
c.3811A>T |
p.R1271* |
Nonsense |
13/15 |
- |
1 |
10-129906294-C-A |
c.3810G>T |
p.K1270N |
Missense |
13/15 |
- |
1 |
10-129906294-C-G |
c.3810G>C |
p.K1270N |
Missense |
13/15 |
- |
1 |
10-129906296-TTG-T |
c.3807_3808del |
p.K1270Efs*30 |
Frameshift |
13/15 |
- |
1 |
10-129906298-G-A |
c.3806C>T |
p.P1269L |
Missense |
13/15 |
- |
1 |
10-129906301-C-T |
c.3803G>A |
p.R1268Q |
Missense |
13/15 |
- |
5 |
10-129906300-T-A |
c.3804A>T |
p.R1268= |
Synonymous |
13/15 |
- |
1 |
10-129906300-T-C |
c.3804A>G |
p.R1268= |
Synonymous |
13/15 |
- |
1 |
10-129906300-T-G |
c.3804A>C |
p.R1268= |
Synonymous |
13/15 |
- |
1 |
10-129906302-G-A |
c.3802C>T |
p.R1268* |
Nonsense |
13/15 |
- |
9 |
10-129906302-G-T |
c.3802C>A |
p.R1268= |
Synonymous |
13/15 |
- |
1 |
10-129906313-C-A |
c.3791G>T |
p.S1264I |
Missense |
13/15 |
- |
1 |
10-129906319-G-A |
c.3785C>T |
p.P1262L |
Missense |
13/15 |
- |
7 |
10-129906320-G-T |
c.3784C>A |
p.P1262T |
Missense |
13/15 |
- |
1 |
10-129906321-G-A |
c.3783C>T |
p.T1261= |
Synonymous |
13/15 |
- |
1 |
10-129906326-C-A |
c.3778G>T |
p.D1260Y |
Missense |
13/15 |
- |
1 |
10-129906332-G-A |
c.3772C>T |
p.P1258S |
Missense |
13/15 |
- |
1 |
10-129906338-A-G |
c.3766T>C |
p.S1256P |
Missense |
13/15 |
- |
2 |
10-129906339-C-A |
c.3765G>T |
p.Q1255H |
Missense |
13/15 |
- |
1 |
10-129906339-C-G |
c.3765G>C |
p.Q1255H |
Missense |
13/15 |
- |
1 |
10-129906341-G-A |
c.3763C>T |
p.Q1255* |
Nonsense |
13/15 |
- |
2 |
10-129906350-C-A |
c.3754G>T |
p.D1252Y |
Missense |
13/15 |
- |
1 |
10-129906350-C-T |
c.3754G>A |
p.D1252N |
Missense |
13/15 |
- |
3 |
10-129906352-CA-GT |
c.3751_3752delinsAC |
p.C1251T |
Missense |
13/15 |
- |
1 |
10-129906353-A-C |
c.3751T>G |
p.C1251G |
Missense |
13/15 |
- |
1 |
10-129906355-G-A |
c.3749C>T |
p.P1250L |
Missense |
13/15 |
- |
4 |
10-129906356-G-A |
c.3748C>T |
p.P1250S |
Missense |
13/15 |
- |
1 |
10-129906361-T-A |
c.3743A>T |
p.K1248I |
Missense |
13/15 |
- |
1 |
10-129906363-A-C |
c.3741T>G |
p.T1247= |
Synonymous |
13/15 |
- |
1 |
10-129906363-A-G |
c.3741T>C |
p.T1247= |
Synonymous |
13/15 |
- |
1 |
10-129906363-A-T |
c.3741T>A |
p.T1247= |
Synonymous |
13/15 |
- |
1 |
10-129906364-G-A |
c.3740C>T |
p.T1247I |
Missense |
13/15 |
- |
11 |
10-129906367-G-A |
c.3737C>T |
p.T1246I |
Missense |
13/15 |
- |
1 |
10-129906368-T-A |
c.3736A>T |
p.T1246S |
Missense |
13/15 |
- |
1 |
10-129906372-A-C |
c.3732T>G |
p.G1244= |
Synonymous |
13/15 |
- |
1 |
10-129906372-A-G |
c.3732T>C |
p.G1244= |
Synonymous |
13/15 |
- |
1 |
10-129906372-A-T |
c.3732T>A |
p.G1244= |
Synonymous |
13/15 |
- |
1 |
10-129906376-G-C |
c.3728C>G |
p.A1243G |
Missense |
13/15 |
- |
1 |
10-129906377-C-A |
c.3727G>T |
p.A1243S |
Missense |
13/15 |
- |
1 |
10-129906377-C-T |
c.3727G>A |
p.A1243T |
Missense |
13/15 |
- |
2 |
10-129906379-G-A |
c.3725C>T |
p.A1242V |
Missense |
13/15 |
- |
2 |
10-129906379-G-C |
c.3725C>G |
p.A1242G |
Missense |
13/15 |
- |
1 |
10-129906385-A-C |
c.3719T>G |
p.L1240* |
Nonsense |
13/15 |
- |
1 |
10-129906385-A-T |
c.3719T>A |
p.L1240* |
Nonsense |
13/15 |
- |
1 |
10-129906387-T-C |
c.3717A>G |
p.E1239= |
Synonymous |
13/15 |
- |
1 |
10-129906390-C-A |
c.3714G>T |
p.E1238D |
Missense |
13/15 |
- |
1 |
10-129906390-C-G |
c.3714G>C |
p.E1238D |
Missense |
13/15 |
- |
1 |
10-129906392-C-T |
c.3712G>A |
p.E1238K |
Missense |
13/15 |
- |
2 |
10-129906393-G-A |
c.3711C>T |
p.T1237= |
Synonymous |
13/15 |
- |
1 |
10-129906393-GGT-G |
c.3709_3710del |
p.T1237Rfs*8 |
Frameshift |
13/15 |
- |
1 |
10-129906397-T-C |
c.3707A>G |
p.H1236R |
Missense |
13/15 |
- |
1 |
10-129906398-G-A |
c.3706C>T |
p.H1236Y |
Missense |
13/15 |
- |
1 |
10-129906399-A-G |
c.3705T>C |
p.G1235= |
Synonymous |
13/15 |
- |
1 |
10-129906405-AG-CA |
c.3698_3699delinsTG |
p.T1233M |
Missense |
13/15 |
- |
1 |
10-129906407-T-C |
c.3697A>G |
p.T1233A |
Missense |
13/15 |
- |
1 |
10-129906408-C-A |
c.3696G>T |
p.Q1232H |
Missense |
13/15 |
- |
1 |
10-129906408-C-G |
c.3696G>C |
p.Q1232H |
Missense |
13/15 |
- |
1 |
10-129906419-C-T |
c.3685G>A |
p.E1229K |
Missense |
13/15 |
- |
1 |
10-129906423-A-G |
c.3681T>C |
p.F1227= |
Synonymous |
13/15 |
- |
1 |
10-129906424-A-G |
c.3680T>C |
p.F1227S |
Missense |
13/15 |
- |
1 |
10-129906426-G-A |
c.3678C>T |
p.G1226= |
Synonymous |
13/15 |
- |
1 |
10-129906426-G-C |
c.3678C>G |
p.G1226= |
Synonymous |
13/15 |
- |
1 |
10-129906426-G-T |
c.3678C>A |
p.G1226= |
Synonymous |
13/15 |
- |
1 |
10-129906427-C-A |
c.3677G>T |
p.G1226V |
Missense |
13/15 |
- |
12 |
10-129906427-C-G |
c.3677G>C |
p.G1226A |
Missense |
13/15 |
- |
3 |
10-129906437-C-T |
c.3667G>A |
p.D1223N |
Missense |
13/15 |
- |
1 |
10-129906440-C-T |
c.3664G>A |
p.E1222K |
Missense |
13/15 |
- |
1 |
10-129906446-C-A |
c.3658G>T |
p.A1220S |
Missense |
13/15 |
- |
1 |
10-129906452-C-T |
c.3652G>A |
p.A1218T |
Missense |
13/15 |
- |
3 |
10-129906453-C-T |
c.3651G>A |
p.K1217= |
Synonymous |
13/15 |
- |
1 |
10-129906455-T-A |
c.3649A>T |
p.K1217* |
Nonsense |
13/15 |
- |
1 |
10-129906455-T-C |
c.3649A>G |
p.K1217E |
Missense |
13/15 |
- |
1 |
10-129906455-T-G |
c.3649A>C |
p.K1217Q |
Missense |
13/15 |
- |
1 |
10-129906457-TC-T |
c.3646del |
p.E1216Kfs*6 |
Frameshift |
13/15 |
- |
1 |
10-129906462-A-C |
c.3642T>G |
p.P1214= |
Synonymous |
13/15 |
- |
1 |
10-129906462-A-G |
c.3642T>C |
p.P1214= |
Synonymous |
13/15 |
- |
1 |
10-129906462-A-T |
c.3642T>A |
p.P1214= |
Synonymous |
13/15 |
- |
1 |
10-129906464-G-A |
c.3640C>T |
p.P1214S |
Missense |
13/15 |
- |
4 |
10-129906464-G-T |
c.3640C>A |
p.P1214T |
Missense |
13/15 |
- |
1 |
10-129906467-T-G |
c.3637A>C |
p.T1213P |
Missense |
13/15 |
- |
1 |
10-129906468-C-T |
c.3636G>A |
p.Q1212= |
Synonymous |
13/15 |
- |
8 |
10-129906469-T-C |
c.3635A>G |
p.Q1212R |
Missense |
13/15 |
- |
1 |
10-129906470-G-A |
c.3634C>T |
p.Q1212* |
Nonsense |
13/15 |
- |
1 |
10-129906472-A-G |
c.3632T>C |
p.L1211P |
Missense |
13/15 |
- |
1 |
10-129906475-T-C |
c.3629A>G |
p.Q1210R |
Missense |
13/15 |
- |
2 |
10-129906489-AGG-TTA |
c.3613_3615delinsTAA |
p.P1205* |
Nonsense |
13/15 |
- |
1 |
10-129906493-A-C |
c.3611T>G |
p.L1204* |
Nonsense |
13/15 |
- |
1 |
10-129906493-A-T |
c.3611T>A |
p.L1204* |
Nonsense |
13/15 |
- |
1 |
10-129906496-G-T |
c.3608C>A |
p.T1203N |
Missense |
13/15 |
- |
1 |
10-129906498-TCC-GCT |
c.3604_3606delinsAGC |
p.G1202S |
Missense |
13/15 |
- |
1 |
10-129906499-C-T |
c.3605G>A |
p.G1202E |
Missense |
13/15 |
- |
1 |
10-129906502-GC-AG |
c.3601_3602delinsCT |
p.A1201L |
Missense |
13/15 |
- |
1 |
10-129906503-C-T |
c.3601G>A |
p.A1201T |
Missense |
13/15 |
- |
1 |
10-129906504-C-T |
c.3600G>A |
p.L1200= |
Synonymous |
13/15 |
- |
3 |
10-129906509-C-G |
c.3595G>C |
p.D1199H |
Missense |
13/15 |
- |
2 |
10-129906509-C-T |
c.3595G>A |
p.D1199N |
Missense |
13/15 |
- |
2 |
10-129906516-C-T |
c.3588G>A |
p.Q1196= |
Synonymous |
13/15 |
- |
2 |
10-129906527-T-A |
c.3577A>T |
p.T1193S |
Missense |
13/15 |
- |
1 |
10-129906528-T-A |
c.3576A>T |
p.G1192= |
Synonymous |
13/15 |
- |
1 |
10-129906528-T-C |
c.3576A>G |
p.G1192= |
Synonymous |
13/15 |
- |
1 |
10-129906528-T-G |
c.3576A>C |
p.G1192= |
Synonymous |
13/15 |
- |
1 |
10-129906540-T-A |
c.3564A>T |
p.K1188N |
Missense |
13/15 |
- |
1 |
10-129906543-A-C |
c.3561T>G |
p.I1187M |
Missense |
13/15 |
- |
1 |
10-129906548-C-T |
c.3556G>A |
p.D1186N |
Missense |
13/15 |
- |
1 |
10-129906552-C-A |
c.3552G>T |
p.E1184D |
Missense |
13/15 |
- |
1 |
10-129906554-C-A |
c.3550G>T |
p.E1184* |
Nonsense |
13/15 |
- |
1 |
10-129906554-C-T |
c.3550G>A |
p.E1184K |
Missense |
13/15 |
- |
2 |
10-129906561-T-A |
c.3543A>T |
p.G1181= |
Synonymous |
13/15 |
- |
1 |
10-129906561-T-C |
c.3543A>G |
p.G1181= |
Synonymous |
13/15 |
- |
3 |
10-129906561-T-G |
c.3543A>C |
p.G1181= |
Synonymous |
13/15 |
- |
1 |
10-129906562-C-G |
c.3542G>C |
p.G1181A |
Missense |
13/15 |
- |
1 |
10-129906562-C-T |
c.3542G>A |
p.G1181E |
Missense |
13/15 |
- |
1 |
10-129906566-C-A |
c.3538G>T |
p.A1180S |
Missense |
13/15 |
- |
1 |
10-129906575-G-A |
c.3529C>T |
p.P1177S |
Missense |
13/15 |
- |
1 |
10-129906577-G-A |
c.3527C>T |
p.T1176M |
Missense |
13/15 |
- |
4 |
10-129906580-A-C |
c.3524T>G |
p.L1175R |
Missense |
13/15 |
- |
2 |
10-129906582-C-A |
c.3522G>T |
p.M1174I |
Missense |
13/15 |
- |
4 |
10-129906582-C-G |
c.3522G>C |
p.M1174I |
Missense |
13/15 |
- |
3 |
10-129906582-C-T |
c.3522G>A |
p.M1174I |
Missense |
13/15 |
- |
3 |
10-129906592-C-T |
c.3512G>A |
p.G1171E |
Missense |
13/15 |
- |
1 |
10-129906596-CTGA-C |
c.3505_3507del |
p.S1169del |
InFrameDeletion |
13/15 |
- |
1 |
10-129906600-T-C |
c.3504A>G |
p.P1168= |
Synonymous |
13/15 |
- |
1 |
10-129906602-G-A |
c.3502C>T |
p.P1168S |
Missense |
13/15 |
- |
1 |
10-129906603-T-A |
c.3501A>T |
p.T1167= |
Synonymous |
13/15 |
- |
1 |
10-129906603-T-C |
c.3501A>G |
p.T1167= |
Synonymous |
13/15 |
- |
1 |
10-129906603-T-G |
c.3501A>C |
p.T1167= |
Synonymous |
13/15 |
- |
1 |
10-129906607-A-G |
c.3497T>C |
p.L1166P |
Missense |
13/15 |
- |
7 |
10-129906609-T-C |
c.3495A>G |
p.K1165= |
Synonymous |
13/15 |
- |
1 |
10-129906615-TGAG-T |
c.3487_3489del |
p.L1163del |
InFrameDeletion |
13/15 |
- |
1 |
10-129906624-G-T |
c.3480C>A |
p.F1160L |
Missense |
13/15 |
- |
1 |
10-129906633-C-T |
c.3471G>A |
p.E1157= |
Synonymous |
13/15 |
- |
1 |
10-129906635-C-A |
c.3469G>T |
p.E1157* |
Nonsense |
13/15 |
- |
1 |
10-129906655-CT-TG |
c.3448_3449delinsCA |
p.S1150H |
Missense |
13/15 |
- |
1 |
10-129906658-C-A |
c.3446G>T |
p.R1149I |
Missense |
13/15 |
- |
1 |
10-129906663-A-C |
c.3441T>G |
p.P1147= |
Synonymous |
13/15 |
- |
1 |
10-129906663-A-G |
c.3441T>C |
p.P1147= |
Synonymous |
13/15 |
- |
1 |
10-129906663-A-T |
c.3441T>A |
p.P1147= |
Synonymous |
13/15 |
- |
1 |
10-129906664-G-A |
c.3440C>T |
p.P1147L |
Missense |
13/15 |
- |
1 |
10-129906667-C-A |
c.3437G>T |
p.W1146L |
Missense |
13/15 |
- |
1 |
10-129906674-T-C |
c.3430A>G |
p.K1144E |
Missense |
13/15 |
- |
10 |
10-129906682-G-A |
c.3422C>T |
p.T1141I |
Missense |
13/15 |
- |
1 |
10-129906682-GT-CC |
c.3421_3422delinsGG |
p.T1141G |
Missense |
13/15 |
- |
1 |
10-129906683-T-C |
c.3421A>G |
p.T1141A |
Missense |
13/15 |
- |
2 |
10-129906685-G-A |
c.3419C>T |
p.P1140L |
Missense |
13/15 |
- |
7 |
10-129906686-G-C |
c.3418C>G |
p.P1140A |
Missense |
13/15 |
- |
2 |
10-129906688-GT-CA |
c.3415_3416delinsTG |
p.T1139C |
Missense |
13/15 |
- |
1 |
10-129906697-G-A |
c.3407C>T |
p.S1136L |
Missense |
13/15 |
- |
2 |
10-129906699-T-A |
c.3405A>T |
p.E1135D |
Missense |
13/15 |
- |
1 |
10-129906699-T-G |
c.3405A>C |
p.E1135D |
Missense |
13/15 |
- |
1 |
10-129906701-C-G |
c.3403G>C |
p.E1135Q |
Missense |
13/15 |
- |
3 |
10-129906706-G-A |
c.3398C>T |
p.P1133L |
Missense |
13/15 |
- |
5 |
10-129906707-G-A |
c.3397C>T |
p.P1133S |
Missense |
13/15 |
- |
1 |
10-129906707-G-T |
c.3397C>A |
p.P1133T |
Missense |
13/15 |
- |
1 |
10-129906709-G-A |
c.3395C>T |
p.P1132L |
Missense |
13/15 |
- |
2 |
10-129906710-G-A |
c.3394C>T |
p.P1132S |
Missense |
13/15 |
- |
4 |
10-129906711-A-C |
c.3393T>G |
p.S1131= |
Synonymous |
13/15 |
- |
1 |
10-129906711-A-G |
c.3393T>C |
p.S1131= |
Synonymous |
13/15 |
- |
1 |
10-129906711-A-T |
c.3393T>A |
p.S1131= |
Synonymous |
13/15 |
- |
1 |
10-129906712-G-C |
c.3392C>G |
p.S1131C |
Missense |
13/15 |
- |
2 |
10-129906715-T-C |
c.3389A>G |
p.K1130R |
Missense |
13/15 |
- |
1 |
10-129906717-G-T |
c.3387C>A |
p.C1129* |
Nonsense |
13/15 |
- |
1 |
10-129906718-CA-GC |
c.3385_3386delinsGC |
p.C1129A |
Missense |
13/15 |
- |
1 |
10-129906720-G-T |
c.3384C>A |
p.A1128= |
Synonymous |
13/15 |
- |
1 |
10-129906732-AG-CA |
c.3371_3372delinsTG |
p.T1124M |
Missense |
13/15 |
- |
1 |
10-129906733-G-A |
c.3371C>T |
p.T1124I |
Missense |
13/15 |
- |
1 |
10-129906734-T-G |
c.3370A>C |
p.T1124P |
Missense |
13/15 |
- |
1 |
10-129906740-C-A |
c.3364G>T |
p.E1122* |
Nonsense |
13/15 |
- |
1 |
10-129906745-G-C |
c.3359C>G |
p.T1120S |
Missense |
13/15 |
- |
4 |
10-129906746-T-A |
c.3358A>T |
p.T1120S |
Missense |
13/15 |
- |
2 |
10-129906749-T-A |
c.3355A>T |
p.M1119L |
Missense |
13/15 |
- |
1 |
10-129906753-T-C |
c.3351A>G |
p.E1117= |
Synonymous |
13/15 |
- |
1 |
10-129906755-C-T |
c.3349G>A |
p.E1117K |
Missense |
13/15 |
- |
1 |
10-129906757-T-C |
c.3347A>G |
p.E1116G |
Missense |
13/15 |
- |
1 |
10-129906760-G-T |
c.3344C>A |
p.S1115Y |
Missense |
13/15 |
- |
1 |
10-129906764-G-A |
c.3340C>T |
p.P1114S |
Missense |
13/15 |
- |
7 |
10-129906766-C-A |
c.3338G>T |
p.G1113V |
Missense |
13/15 |
- |
1 |
10-129906770-G-A |
c.3334C>T |
p.P1112S |
Missense |
13/15 |
- |
1 |
10-129906773-T-A |
c.3331A>T |
p.T1111S |
Missense |
13/15 |
- |
1 |
10-129906777-G-A |
c.3327C>T |
p.F1109= |
Synonymous |
13/15 |
- |
1 |
10-129906785-C-T |
c.3319G>A |
p.E1107K |
Missense |
13/15 |
- |
2 |
10-129906788-T-A |
c.3316A>T |
p.K1106* |
Nonsense |
13/15 |
- |
1 |
10-129906798-C-T |
c.3306G>A |
p.L1102= |
Synonymous |
13/15 |
- |
1 |
10-129906807-T-A |
c.3297A>T |
p.L1099= |
Synonymous |
13/15 |
- |
1 |
10-129906807-T-C |
c.3297A>G |
p.L1099= |
Synonymous |
13/15 |
- |
1 |
10-129906807-T-G |
c.3297A>C |
p.L1099= |
Synonymous |
13/15 |
- |
1 |
10-129906809-G-A |
c.3295C>T |
p.L1099= |
Synonymous |
13/15 |
- |
1 |
10-129906813-C-T |
c.3291G>A |
p.Q1097= |
Synonymous |
13/15 |
- |
1 |
10-129906814-T-C |
c.3290A>G |
p.Q1097R |
Missense |
13/15 |
- |
1 |
10-129906815-G-C |
c.3289C>G |
p.Q1097E |
Missense |
13/15 |
- |
2 |
10-129906817-G-C |
c.3287C>G |
p.A1096G |
Missense |
13/15 |
- |
1 |
10-129906819-C-A |
c.3285G>T |
p.E1095D |
Missense |
13/15 |
- |
1 |
10-129906819-C-G |
c.3285G>C |
p.E1095D |
Missense |
13/15 |
- |
1 |
10-129906821-C-G |
c.3283G>C |
p.E1095Q |
Missense |
13/15 |
- |
1 |
10-129906824-C-G |
c.3280G>C |
p.E1094Q |
Missense |
13/15 |
- |
2 |
10-129906829-G-A |
c.3275C>T |
p.P1092L |
Missense |
13/15 |
- |
2 |
10-129906829-G-C |
c.3275C>G |
p.P1092R |
Missense |
13/15 |
- |
1 |
10-129906831-C-A |
c.3273G>T |
p.T1091= |
Synonymous |
13/15 |
- |
1 |
10-129906831-C-G |
c.3273G>C |
p.T1091= |
Synonymous |
13/15 |
- |
1 |
10-129906831-CGT-ACA |
c.3271_3273delinsTGT |
p.T1091C |
Missense |
13/15 |
- |
1 |
10-129906831-C-T |
c.3273G>A |
p.T1091= |
Synonymous |
13/15 |
- |
2 |
10-129906832-G-A |
c.3272C>T |
p.T1091M |
Missense |
13/15 |
- |
4 |
10-129906833-T-TGCTGGG |
c.3270_3271insCCCAGC |
p.R1090_T1091insPS |
InFrameInsertion |
13/15 |
- |
1 |
10-129906835-C-G |
c.3269G>C |
p.R1090T |
Missense |
13/15 |
- |
1 |
10-129906837-T-A |
c.3267A>T |
p.P1089= |
Synonymous |
13/15 |
- |
2 |
10-129906837-T-C |
c.3267A>G |
p.P1089= |
Synonymous |
13/15 |
- |
1 |
10-129906837-T-G |
c.3267A>C |
p.P1089= |
Synonymous |
13/15 |
- |
1 |
10-129906843-C-T |
c.3261G>A |
p.K1087= |
Synonymous |
13/15 |
- |
1 |
10-129906844-T-C |
c.3260A>G |
p.K1087R |
Missense |
13/15 |
- |
1 |
10-129906846-C-G |
c.3258G>C |
p.K1086N |
Missense |
13/15 |
- |
1 |
10-129906847-T-A |
c.3257A>T |
p.K1086M |
Missense |
13/15 |
- |
1 |
10-129906848-T-A |
c.3256A>T |
p.K1086* |
Nonsense |
13/15 |
- |
1 |
10-129906849-C-A |
c.3255G>T |
p.M1085I |
Missense |
13/15 |
- |
2 |
10-129906849-C-G |
c.3255G>C |
p.M1085I |
Missense |
13/15 |
- |
2 |
10-129906849-C-T |
c.3255G>A |
p.M1085I |
Missense |
13/15 |
- |
4 |
10-129906850-A-T |
c.3254T>A |
p.M1085K |
Missense |
13/15 |
- |
1 |
10-129906858-T-A |
c.3246A>T |
p.V1082= |
Synonymous |
13/15 |
- |
1 |
10-129906858-T-C |
c.3246A>G |
p.V1082= |
Synonymous |
13/15 |
- |
1 |
10-129906858-T-G |
c.3246A>C |
p.V1082= |
Synonymous |
13/15 |
- |
1 |
10-129906860-C-T |
c.3244G>A |
p.V1082I |
Missense |
13/15 |
- |
1 |
10-129906862-C-T |
c.3242G>A |
p.R1081H |
Missense |
13/15 |
- |
3 |
10-129906863-G-T |
c.3241C>A |
p.R1081S |
Missense |
13/15 |
- |
4 |
10-129906864-G-A |
c.3240C>T |
p.A1080= |
Synonymous |
13/15 |
- |
2 |
10-129906864-G-C |
c.3240C>G |
p.A1080= |
Synonymous |
13/15 |
- |
2 |
10-129906864-G-T |
c.3240C>A |
p.A1080= |
Synonymous |
13/15 |
- |
2 |
10-129906865-G-A |
c.3239C>T |
p.A1080V |
Missense |
13/15 |
- |
1 |
10-129906866-C-A |
c.3238G>T |
p.A1080S |
Missense |
13/15 |
- |
1 |
10-129906870-T-A |
c.3234A>T |
p.P1078= |
Synonymous |
13/15 |
- |
1 |
10-129906870-T-C |
c.3234A>G |
p.P1078= |
Synonymous |
13/15 |
- |
1 |
10-129906870-T-G |
c.3234A>C |
p.P1078= |
Synonymous |
13/15 |
- |
1 |
10-129906871-G-A |
c.3233C>T |
p.P1078L |
Missense |
13/15 |
- |
1 |
10-129906874-T-C |
c.3230A>G |
p.D1077G |
Missense |
13/15 |
- |
1 |
10-129906877-A-G |
c.3227T>C |
p.L1076P |
Missense |
13/15 |
- |
1 |
10-129906884-G-C |
c.3220C>G |
p.Q1074E |
Missense |
13/15 |
- |
1 |
10-129906885-C-CT |
c.3218dup |
p.Q1074Afs*20 |
Frameshift |
13/15 |
- |
2 |
10-129906889-G-A |
c.3215C>T |
p.P1072L |
Missense |
13/15 |
- |
1 |
10-129906890-G-A |
c.3214C>T |
p.P1072S |
Missense |
13/15 |
- |
2 |
10-129906892-GA-AG |
c.3211_3212delinsCT |
p.S1071L |
Missense |
13/15 |
- |
2 |
10-129906896-C-A |
c.3208G>T |
p.E1070* |
Nonsense |
13/15 |
- |
1 |
10-129906896-C-T |
c.3208G>A |
p.E1070K |
Missense |
13/15 |
- |
2 |
10-129906898-T-C |
c.3206A>G |
p.K1069R |
Missense |
13/15 |
- |
1 |
10-129906903-C-A |
c.3201G>T |
p.T1067= |
Synonymous |
13/15 |
- |
2 |
10-129906903-C-G |
c.3201G>C |
p.T1067= |
Synonymous |
13/15 |
- |
5 |
10-129906903-C-T |
c.3201G>A |
p.T1067= |
Synonymous |
13/15 |
- |
6 |
10-129906906-TCT-ATG |
c.3196_3198delinsCAT |
p.R1066H |
Missense |
13/15 |
- |
1 |
10-129906907-C-G |
c.3197G>C |
p.R1066T |
Missense |
13/15 |
- |
1 |
10-129906909-G-A |
c.3195C>T |
p.I1065= |
Synonymous |
13/15 |
- |
1 |
10-129906909-G-T |
c.3195C>A |
p.I1065= |
Synonymous |
13/15 |
- |
1 |
10-129906918-G-A |
c.3186C>T |
p.G1062= |
Synonymous |
13/15 |
- |
1 |
10-129906918-G-C |
c.3186C>G |
p.G1062= |
Synonymous |
13/15 |
- |
1 |
10-129906918-G-T |
c.3186C>A |
p.G1062= |
Synonymous |
13/15 |
- |
1 |
10-129906928-G-A |
c.3176C>T |
p.A1059V |
Missense |
13/15 |
- |
1 |
10-129906928-G-T |
c.3176C>A |
p.A1059E |
Missense |
13/15 |
- |
1 |
10-129906929-C-G |
c.3175G>C |
p.A1059P |
Missense |
13/15 |
- |
1 |
10-129906934-T-A |
c.3170A>T |
p.E1057V |
Missense |
13/15 |
- |
1 |
10-129906934-T-G |
c.3170A>C |
p.E1057A |
Missense |
13/15 |
- |
2 |
10-129906935-C-A |
c.3169G>T |
p.E1057* |
Nonsense |
13/15 |
- |
2 |
10-129906935-C-T |
c.3169G>A |
p.E1057K |
Missense |
13/15 |
- |
1 |
10-129906936-T-A |
c.3168A>T |
p.R1056S |
Missense |
13/15 |
- |
1 |
10-129906939-G-A |
c.3165C>T |
p.H1055= |
Synonymous |
13/15 |
- |
2 |
10-129906942-C-A |
c.3162G>T |
p.T1054= |
Synonymous |
13/15 |
- |
3 |
10-129906942-C-G |
c.3162G>C |
p.T1054= |
Synonymous |
13/15 |
- |
3 |
10-129906942-C-T |
c.3162G>A |
p.T1054= |
Synonymous |
13/15 |
- |
4 |
10-129906943-G-A |
c.3161C>T |
p.T1054M |
Missense |
13/15 |
- |
2 |
10-129906948-C-A |
c.3156G>T |
p.T1052= |
Synonymous |
13/15 |
- |
1 |
10-129906948-C-G |
c.3156G>C |
p.T1052= |
Synonymous |
13/15 |
- |
1 |
10-129906948-C-T |
c.3156G>A |
p.T1052= |
Synonymous |
13/15 |
- |
3 |
10-129906949-G-A |
c.3155C>T |
p.T1052M |
Missense |
13/15 |
- |
1 |
10-129906951-G-A |
c.3153C>T |
p.T1051= |
Synonymous |
13/15 |
- |
1 |
10-129906952-GT-CC |
c.3151_3152delinsGG |
p.T1051G |
Missense |
13/15 |
- |
1 |
10-129906957-CCC-GCT |
c.3145_3147delinsAGC |
p.G1049S |
Missense |
13/15 |
- |
1 |
10-129906958-C-G |
c.3146G>C |
p.G1049A |
Missense |
13/15 |
- |
2 |
10-129906958-C-T |
c.3146G>A |
p.G1049E |
Missense |
13/15 |
- |
2 |
10-129906961-G-A |
c.3143C>T |
p.S1048L |
Missense |
13/15 |
- |
1 |
10-129906963-C-A |
c.3141G>T |
p.T1047= |
Synonymous |
13/15 |
- |
1 |
10-129906963-C-G |
c.3141G>C |
p.T1047= |
Synonymous |
13/15 |
- |
1 |
10-129906963-C-T |
c.3141G>A |
p.T1047= |
Synonymous |
13/15 |
- |
1 |
10-129906964-G-A |
c.3140C>T |
p.T1047M |
Missense |
13/15 |
- |
1 |
10-129906965-T-C |
c.3139A>G |
p.T1047A |
Missense |
13/15 |
- |
1 |
10-129906967-C-T |
c.3137G>A |
p.R1046Q |
Missense |
13/15 |
- |
1 |
10-129906972-G-A |
c.3132C>T |
p.F1044= |
Synonymous |
13/15 |
- |
2 |
10-129906976-T-A |
c.3128A>T |
p.K1043M |
Missense |
13/15 |
- |
3 |
10-129906977-T-C |
c.3127A>G |
p.K1043E |
Missense |
13/15 |
- |
1 |
10-129906978-G-A |
c.3126C>T |
p.G1042= |
Synonymous |
13/15 |
- |
2 |
10-129906978-G-C |
c.3126C>G |
p.G1042= |
Synonymous |
13/15 |
- |
2 |
10-129906978-GC-CT |
c.3125_3126delinsAG |
p.G1042E |
Missense |
13/15 |
- |
1 |
10-129906978-G-T |
c.3126C>A |
p.G1042= |
Synonymous |
13/15 |
- |
2 |
10-129906980-C-T |
c.3124G>A |
p.G1042S |
Missense |
13/15 |
- |
24 |
10-129906984-T-A |
c.3120A>T |
p.A1040= |
Synonymous |
13/15 |
- |
1 |
10-129906984-T-C |
c.3120A>G |
p.A1040= |
Synonymous |
13/15 |
- |
1 |
10-129906984-T-G |
c.3120A>C |
p.A1040= |
Synonymous |
13/15 |
- |
1 |
10-129906984-TGC-ACA |
c.3118_3120delinsTGT |
p.A1040C |
Missense |
13/15 |
- |
1 |
10-129906990-G-A |
c.3114C>T |
p.L1038= |
Synonymous |
13/15 |
- |
1 |
10-129906997-T-C |
c.3107A>G |
p.E1036G |
Missense |
13/15 |
- |
1 |
10-129906997-T-G |
c.3107A>C |
p.E1036A |
Missense |
13/15 |
- |
1 |
10-129906998-C-G |
c.3106G>C |
p.E1036Q |
Missense |
13/15 |
- |
1 |
10-129907001-T-C |
c.3103A>G |
p.K1035E |
Missense |
13/15 |
- |
1 |
10-129907002-C-A |
c.3102G>T |
p.V1034= |
Synonymous |
13/15 |
- |
1 |
10-129907002-C-G |
c.3102G>C |
p.V1034= |
Synonymous |
13/15 |
- |
1 |
10-129907002-C-T |
c.3102G>A |
p.V1034= |
Synonymous |
13/15 |
- |
2 |
10-129907003-A-G |
c.3101T>C |
p.V1034A |
Missense |
13/15 |
- |
1 |
10-129907006-C-G |
c.3098G>C |
p.G1033A |
Missense |
13/15 |
- |
1 |
10-129907010-C-T |
c.3094G>A |
p.V1032I |
Missense |
13/15 |
- |
2 |
10-129907014-C-A |
c.3090G>T |
p.G1030= |
Synonymous |
13/15 |
- |
2 |
10-129907015-C-A |
c.3089G>T |
p.G1030V |
Missense |
13/15 |
- |
2 |
10-129907015-C-G |
c.3089G>C |
p.G1030A |
Missense |
13/15 |
- |
1 |
10-129907015-C-T |
c.3089G>A |
p.G1030E |
Missense |
13/15 |
- |
1 |
10-129907017-C-T |
c.3087G>A |
p.L1029= |
Synonymous |
13/15 |
- |
2 |
10-129907019-G-A |
c.3085C>T |
p.L1029= |
Synonymous |
13/15 |
- |
2 |
10-129907018-A-AG |
c.3085dup |
p.L1029Pfs*41 |
Frameshift |
13/15 |
- |
1 |
10-129907021-G-A |
c.3083C>T |
p.S1028F |
Missense |
13/15 |
- |
1 |
10-129907021-G-C |
c.3083C>G |
p.S1028C |
Missense |
13/15 |
- |
1 |
10-129907024-G-A |
c.3080C>T |
p.A1027V |
Missense |
13/15 |
- |
1 |
10-129907031-A-C |
c.3073T>G |
p.L1025V |
Missense |
13/15 |
- |
1 |
10-129907047-T-G |
c.3057A>C |
p.T1019= |
Synonymous |
13/15 |
- |
1 |
10-129907054-G-A |
c.3050C>T |
p.T1017I |
Missense |
13/15 |
- |
1 |
10-129907058-T-C |
c.3046A>G |
p.N1016D |
Missense |
13/15 |
- |
1 |
10-129907061-T-A |
c.3043A>T |
p.I1015L |
Missense |
13/15 |
- |
2 |
10-129907069-G-A |
c.3035C>T |
p.P1012L |
Missense |
13/15 |
- |
1 |
10-129907071-T-A |
c.3033A>T |
p.Q1011H |
Missense |
13/15 |
- |
1 |
10-129907073-G-A |
c.3031C>T |
p.Q1011* |
Nonsense |
13/15 |
- |
1 |
10-129907074-TAA-CAT |
c.3028_3030delinsATG |
p.L1010M |
Missense |
13/15 |
- |
1 |
10-129907074-T-TA |
c.3029dup |
p.L1010Ffs*60 |
Frameshift |
13/15 |
- |
1 |
10-129907079-A-C |
c.3025T>G |
p.S1009A |
Missense |
13/15 |
- |
2 |
10-129907080-C-T |
c.3024G>A |
p.Q1008= |
Synonymous |
13/15 |
- |
1 |
10-129907083-G-A |
c.3021C>T |
p.C1007= |
Synonymous |
13/15 |
- |
2 |
10-129907087-G-A |
c.3017C>T |
p.P1006L |
Missense |
13/15 |
- |
1 |
10-129907089-C-A |
c.3015G>T |
p.M1005I |
Missense |
13/15 |
- |
2 |
10-129907089-C-G |
c.3015G>C |
p.M1005I |
Missense |
13/15 |
- |
2 |
10-129907089-C-T |
c.3015G>A |
p.M1005I |
Missense |
13/15 |
- |
2 |
10-129907091-T-C |
c.3013A>G |
p.M1005V |
Missense |
13/15 |
- |
1 |
10-129907090-A-ATTCT |
c.3013_3014insAGAA |
p.M1005Kfs*66 |
Frameshift |
13/15 |
- |
1 |
10-129907096-G-T |
c.3008C>A |
p.T1003N |
Missense |
13/15 |
- |
1 |
10-129907096-GT-CA |
c.3007_3008delinsTG |
p.T1003C |
Missense |
13/15 |
- |
1 |
10-129907100-T-C |
c.3004A>G |
p.I1002V |
Missense |
13/15 |
- |
1 |
10-129907104-G-T |
c.3000C>A |
p.G1000= |
Synonymous |
13/15 |
- |
1 |
10-129907107-T-A |
c.2997A>T |
p.K999N |
Missense |
13/15 |
- |
1 |
10-129907107-T-G |
c.2997A>C |
p.K999N |
Missense |
13/15 |
- |
1 |
10-129907110-C-G |
c.2994G>C |
p.E998D |
Missense |
13/15 |
- |
1 |
10-129907110-C-T |
c.2994G>A |
p.E998= |
Synonymous |
13/15 |
- |
1 |
10-129907112-C-G |
c.2992G>C |
p.E998Q |
Missense |
13/15 |
- |
1 |
10-129907120-G-A |
c.2984C>T |
p.P995L |
Missense |
13/15 |
- |
1 |
10-129907129-G-A |
c.2975C>T |
p.A992V |
Missense |
13/15 |
- |
1 |
10-129907133-G-A |
c.2971C>T |
p.H991Y |
Missense |
13/15 |
- |
1 |
10-129907135-T-A |
c.2969A>T |
p.D990V |
Missense |
13/15 |
- |
1 |
10-129907146-G-A |
c.2958C>T |
p.L986= |
Synonymous |
13/15 |
- |
1 |
10-129907146-G-C |
c.2958C>G |
p.L986= |
Synonymous |
13/15 |
- |
1 |
10-129907146-G-T |
c.2958C>A |
p.L986= |
Synonymous |
13/15 |
- |
1 |
10-129907149-G-A |
c.2955C>T |
p.L985= |
Synonymous |
13/15 |
- |
1 |
10-129907150-A-G |
c.2954T>C |
p.L985P |
Missense |
13/15 |
- |
1 |
10-129907158-G-A |
c.2946C>T |
p.G982= |
Synonymous |
13/15 |
- |
1 |
10-129907159-C-T |
c.2945G>A |
p.G982D |
Missense |
13/15 |
- |
1 |
10-129907161-A-G |
c.2943T>C |
p.R981= |
Synonymous |
13/15 |
- |
1 |
10-129907162-C-T |
c.2942G>A |
p.R981H |
Missense |
13/15 |
- |
3 |
10-129907167-C-A |
c.2937G>T |
p.T979= |
Synonymous |
13/15 |
- |
1 |
10-129907167-C-G |
c.2937G>C |
p.T979= |
Synonymous |
13/15 |
- |
1 |
10-129907167-C-T |
c.2937G>A |
p.T979= |
Synonymous |
13/15 |
- |
2 |
10-129907168-G-A |
c.2936C>T |
p.T979M |
Missense |
13/15 |
- |
2 |
10-129907169-T-G |
c.2935A>C |
p.T979P |
Missense |
13/15 |
- |
1 |
10-129907171-T-C |
c.2933A>G |
p.D978G |
Missense |
13/15 |
- |
1 |
10-129907172-C-T |
c.2932G>A |
p.D978N |
Missense |
13/15 |
- |
1 |
10-129907173-T-A |
c.2931A>T |
p.K977N |
Missense |
13/15 |
- |
2 |
10-129907173-T-G |
c.2931A>C |
p.K977N |
Missense |
13/15 |
- |
7 |
10-129907175-T-A |
c.2929A>T |
p.K977* |
Nonsense |
13/15 |
- |
1 |
10-129907186-G-A |
c.2918C>T |
p.T973I |
Missense |
13/15 |
- |
1 |
10-129907187-T-A |
c.2917A>T |
p.T973S |
Missense |
13/15 |
- |
1 |
10-129907187-T-G |
c.2917A>C |
p.T973P |
Missense |
13/15 |
- |
1 |
10-129907193-G-T |
c.2911C>A |
p.P971T |
Missense |
13/15 |
- |
2 |
10-129907198-C-A |
c.2906G>T |
p.S969I |
Missense |
13/15 |
- |
1 |
10-129907199-T-A |
c.2905A>T |
p.S969C |
Missense |
13/15 |
- |
1 |
10-129907203-G-A |
c.2901C>T |
p.L967= |
Synonymous |
13/15 |
- |
2 |
10-129907203-G-C |
c.2901C>G |
p.L967= |
Synonymous |
13/15 |
- |
2 |
10-129907203-G-T |
c.2901C>A |
p.L967= |
Synonymous |
13/15 |
- |
2 |
10-129907205-G-T |
c.2899C>A |
p.L967I |
Missense |
13/15 |
- |
1 |
10-129907206-G-A |
c.2898C>T |
p.D966= |
Synonymous |
13/15 |
- |
1 |
10-129907208-C-G |
c.2896G>C |
p.D966H |
Missense |
13/15 |
- |
1 |
10-129907212-C-A |
c.2892G>T |
p.L964= |
Synonymous |
13/15 |
- |
2 |
10-129907212-C-G |
c.2892G>C |
p.L964= |
Synonymous |
13/15 |
- |
2 |
10-129907212-C-T |
c.2892G>A |
p.L964= |
Synonymous |
13/15 |
- |
2 |
10-129907214-G-A |
c.2890C>T |
p.L964= |
Synonymous |
13/15 |
- |
2 |
10-129907215-G-A |
c.2889C>T |
p.D963= |
Synonymous |
13/15 |
- |
2 |
10-129907216-T-C |
c.2888A>G |
p.D963G |
Missense |
13/15 |
- |
1 |
10-129907218-CAGA-C |
c.2884_2886del |
p.S962del |
InFrameDeletion |
13/15 |
- |
1 |
10-129907221-ACAT-A |
c.2881_2883del |
p.M961del |
InFrameDeletion |
13/15 |
- |
1 |
10-129907226-G-A |
c.2878C>T |
p.P960S |
Missense |
13/15 |
- |
1 |
10-129907226-G-C |
c.2878C>G |
p.P960A |
Missense |
13/15 |
- |
1 |
10-129907227-TG-GT |
c.2876_2877delinsAC |
p.A959D |
Missense |
13/15 |
- |
1 |
10-129907228-G-C |
c.2876C>G |
p.A959G |
Missense |
13/15 |
- |
1 |
10-129907229-C-A |
c.2875G>T |
p.A959S |
Missense |
13/15 |
- |
1 |
10-129907233-T-A |
c.2871A>T |
p.K957N |
Missense |
13/15 |
- |
1 |
10-129907238-G-A |
c.2866C>T |
p.Q956* |
Nonsense |
13/15 |
- |
1 |
10-129907240-CC-GT |
c.2863_2864delinsAC |
p.G955T |
Missense |
13/15 |
- |
1 |
10-129907240-C-T |
c.2864G>A |
p.G955E |
Missense |
13/15 |
- |
1 |
10-129907238-G-GC |
c.2865dup |
p.Q956Afs*8 |
Frameshift |
13/15 |
- |
1 |
10-129907248-T-A |
c.2856A>T |
p.R952S |
Missense |
13/15 |
- |
1 |
10-129907248-TCT-ACA |
c.2854_2856delinsTGT |
p.R952C |
Missense |
13/15 |
- |
1 |
10-129907248-T-G |
c.2856A>C |
p.R952S |
Missense |
13/15 |
- |
1 |
10-129907255-C-T |
c.2849G>A |
p.R950K |
Missense |
13/15 |
- |
1 |
10-129907257-C-T |
c.2847G>A |
p.K949= |
Synonymous |
13/15 |
- |
1 |
10-129907260-C-A |
c.2844G>T |
p.M948I |
Missense |
13/15 |
- |
3 |
10-129907260-C-G |
c.2844G>C |
p.M948I |
Missense |
13/15 |
- |
2 |
10-129907260-C-T |
c.2844G>A |
p.M948I |
Missense |
13/15 |
- |
2 |
10-129907267-T-C |
c.2837A>G |
p.K946R |
Missense |
13/15 |
- |
1 |
10-129907272-C-A |
c.2832G>T |
p.K944N |
Missense |
13/15 |
- |
1 |
10-129907272-C-G |
c.2832G>C |
p.K944N |
Missense |
13/15 |
- |
1 |
10-129907273-T-C |
c.2831A>G |
p.K944R |
Missense |
13/15 |
- |
1 |
10-129907273-T-G |
c.2831A>C |
p.K944T |
Missense |
13/15 |
- |
1 |
10-129907277-C-T |
c.2827G>A |
p.E943K |
Missense |
13/15 |
- |
1 |
10-129907280-C-T |
c.2824G>A |
p.D942N |
Missense |
13/15 |
- |
2 |
10-129907281-G-A |
c.2823C>T |
p.N941= |
Synonymous |
13/15 |
- |
2 |
10-129907284-T-C |
c.2820A>G |
p.E940= |
Synonymous |
13/15 |
- |
1 |
10-129907286-C-A |
c.2818G>T |
p.E940* |
Nonsense |
13/15 |
- |
1 |
10-129907286-C-G |
c.2818G>C |
p.E940Q |
Missense |
13/15 |
- |
2 |
10-129907289-T-G |
c.2815A>C |
p.K939Q |
Missense |
13/15 |
- |
1 |
10-129907289-T-TA |
c.2814_2815insT |
p.K939* |
Nonsense |
13/15 |
- |
1 |
10-129907292-A-C |
c.2812T>G |
p.L938V |
Missense |
13/15 |
- |
1 |
10-129907304-C-A |
c.2800G>T |
p.E934* |
Nonsense |
13/15 |
- |
1 |
10-129907312-G-A |
c.2792C>T |
p.T931I |
Missense |
13/15 |
- |
2 |
10-129907313-T-C |
c.2791A>G |
p.T931A |
Missense |
13/15 |
- |
1 |
10-129907314-C-T |
c.2790G>A |
p.E930= |
Synonymous |
13/15 |
- |
1 |
10-129907316-C-G |
c.2788G>C |
p.E930Q |
Missense |
13/15 |
- |
1 |
10-129907316-C-T |
c.2788G>A |
p.E930K |
Missense |
13/15 |
- |
2 |
10-129907318-AA-GC |
c.2785_2786delinsGC |
p.F929A |
Missense |
13/15 |
- |
1 |
10-129907328-C-A |
c.2776G>T |
p.E926* |
Nonsense |
13/15 |
- |
2 |
10-129907333-T-G |
c.2771A>C |
p.E924A |
Missense |
13/15 |
- |
1 |
10-129907334-C-G |
c.2770G>C |
p.E924Q |
Missense |
13/15 |
- |
2 |
10-129907334-C-T |
c.2770G>A |
p.E924K |
Missense |
13/15 |
- |
2 |
10-129907335-C-T |
c.2769G>A |
p.K923= |
Synonymous |
13/15 |
- |
3 |
10-129907340-T-A |
c.2764A>T |
p.M922L |
Missense |
13/15 |
- |
1 |
10-129907340-T-G |
c.2764A>C |
p.M922L |
Missense |
13/15 |
- |
1 |
10-129907342-T-G |
c.2762A>C |
p.E921A |
Missense |
13/15 |
- |
1 |
10-129907346-C-G |
c.2758G>C |
p.G920R |
Missense |
13/15 |
- |
3 |
10-129907346-C-T |
c.2758G>A |
p.G920R |
Missense |
13/15 |
- |
4 |
10-129907354-C-T |
c.2750G>A |
p.R917K |
Missense |
13/15 |
- |
1 |
10-129907363-AGTAGT-A |
c.2736_2740del |
p.L913Tfs*16 |
Frameshift |
13/15 |
- |
1 |
10-129907372-G-C |
c.2732C>G |
p.A911G |
Missense |
13/15 |
- |
1 |
10-129907372-G-T |
c.2732C>A |
p.A911E |
Missense |
13/15 |
- |
1 |
10-129907375-T-A |
c.2729A>T |
p.K910M |
Missense |
13/15 |
- |
1 |
10-129907375-T-C |
c.2729A>G |
p.K910R |
Missense |
13/15 |
- |
1 |
10-129907382-C-A |
c.2722G>T |
p.G908C |
Missense |
13/15 |
- |
1 |
10-129907382-C-G |
c.2722G>C |
p.G908R |
Missense |
13/15 |
- |
1 |
10-129907382-C-T |
c.2722G>A |
p.G908S |
Missense |
13/15 |
- |
1 |
10-129907384-C-A |
c.2720G>T |
p.R907I |
Missense |
13/15 |
- |
1 |
10-129907389-T-A |
c.2715A>T |
p.L905= |
Synonymous |
13/15 |
- |
2 |
10-129907389-T-C |
c.2715A>G |
p.L905= |
Synonymous |
13/15 |
- |
2 |
10-129907389-T-G |
c.2715A>C |
p.L905= |
Synonymous |
13/15 |
- |
3 |
10-129907391-G-A |
c.2713C>T |
p.L905= |
Synonymous |
13/15 |
- |
2 |
10-129907395-G-A |
c.2709C>T |
p.C903= |
Synonymous |
13/15 |
- |
1 |
10-129907396-C-A |
c.2708G>T |
p.C903F |
Missense |
13/15 |
- |
4 |
10-129907412-T-G |
c.2692A>C |
p.T898P |
Missense |
13/15 |
- |
1 |
10-129907415-T-C |
c.2689A>G |
p.N897D |
Missense |
13/15 |
- |
2 |
10-129907419-T-A |
c.2685A>T |
p.E895D |
Missense |
13/15 |
- |
1 |
10-129907424-C-A |
c.2680G>T |
p.E894* |
Nonsense |
13/15 |
- |
1 |
10-129907424-C-T |
c.2680G>A |
p.E894K |
Missense |
13/15 |
- |
2 |
10-129907439-C-T |
c.2665G>A |
p.V889M |
Missense |
13/15 |
- |
3 |
10-129907441-G-T |
c.2663C>A |
p.P888H |
Missense |
13/15 |
- |
1 |
10-129907445-G-A |
c.2659C>T |
p.L887= |
Synonymous |
13/15 |
- |
2 |
10-129907446-C-T |
c.2658G>A |
p.K886= |
Synonymous |
13/15 |
- |
1 |
10-129907449-C-G |
c.2655G>C |
p.Q885H |
Missense |
13/15 |
- |
1 |
10-129907449-C-T |
c.2655G>A |
p.Q885= |
Synonymous |
13/15 |
- |
1 |
10-129907451-G-A |
c.2653C>T |
p.Q885* |
Nonsense |
13/15 |
- |
1 |
10-129907451-G-T |
c.2653C>A |
p.Q885K |
Missense |
13/15 |
- |
1 |
10-129907456-T-C |
c.2648A>G |
p.N883S |
Missense |
13/15 |
- |
1 |
10-129907458-CCT-ACA |
c.2644_2646delinsTGT |
p.R882C |
Missense |
13/15 |
- |
1 |
10-129907458-C-T |
c.2646G>A |
p.R882= |
Synonymous |
13/15 |
- |
1 |
10-129907460-CT-C |
c.2644del |
p.R882Gfs*24 |
Frameshift |
13/15 |
- |
1 |
10-129907461-G-A |
c.2643C>T |
p.F881= |
Synonymous |
13/15 |
- |
1 |
10-129907461-G-C |
c.2643C>G |
p.F881L |
Missense |
13/15 |
- |
1 |
10-129907464-C-G |
c.2640G>C |
p.E880D |
Missense |
13/15 |
- |
2 |
10-129907465-T-C |
c.2639A>G |
p.E880G |
Missense |
13/15 |
- |
1 |
10-129907466-C-A |
c.2638G>T |
p.E880* |
Nonsense |
13/15 |
- |
4 |
10-129907467-TG-CA |
c.2636_2637inv |
p.T879M |
Missense |
13/15 |
- |
1 |
10-129907468-G-T |
c.2636C>A |
p.T879K |
Missense |
13/15 |
- |
1 |
10-129907469-T-C |
c.2635A>G |
p.T879A |
Missense |
13/15 |
- |
1 |
10-129907471-G-C |
c.2633C>G |
p.S878C |
Missense |
13/15 |
- |
1 |
10-129907473-CCT-ATG |
c.2629_2631delinsCAT |
p.R877H |
Missense |
13/15 |
- |
1 |
10-129907478-C-G |
c.2626G>C |
p.G876R |
Missense |
13/15 |
- |
1 |
10-129907478-C-T |
c.2626G>A |
p.G876R |
Missense |
13/15 |
- |
1 |
10-129907479-T-A |
c.2625A>T |
p.S875= |
Synonymous |
13/15 |
- |
1 |
10-129907479-T-C |
c.2625A>G |
p.S875= |
Synonymous |
13/15 |
- |
2 |
10-129907479-T-G |
c.2625A>C |
p.S875= |
Synonymous |
13/15 |
- |
1 |
10-129907489-G-A |
c.2615C>T |
p.A872V |
Missense |
13/15 |
- |
11 |
10-129907489-G-C |
c.2615C>G |
p.A872G |
Missense |
13/15 |
- |
1 |
10-129907496-A-G |
c.2608T>C |
p.S870P |
Missense |
13/15 |
- |
2 |
10-129907505-T-C |
c.2599A>G |
p.K867E |
Missense |
13/15 |
- |
1 |
10-129907505-T-G |
c.2599A>C |
p.K867Q |
Missense |
13/15 |
- |
1 |
10-129907507-G-A |
c.2597C>T |
p.S866L |
Missense |
13/15 |
- |
1 |
10-129907509-A-G |
c.2595T>C |
p.P865= |
Synonymous |
13/15 |
- |
1 |
10-129907510-G-T |
c.2594C>A |
p.P865H |
Missense |
13/15 |
- |
1 |
10-129907511-G-A |
c.2593C>T |
p.P865S |
Missense |
13/15 |
- |
1 |
10-129907512-C-A |
c.2592G>T |
p.E864D |
Missense |
13/15 |
- |
1 |
10-129907518-C-A |
c.2586G>T |
p.E862D |
Missense |
13/15 |
- |
1 |
10-129907520-C-T |
c.2584G>A |
p.E862K |
Missense |
13/15 |
- |
1 |
10-129907524-A-G |
c.2580T>C |
p.D860= |
Synonymous |
13/15 |
- |
1 |
10-129907526-C-G |
c.2578G>C |
p.D860H |
Missense |
13/15 |
- |
3 |
10-129907527-T-A |
c.2577A>T |
p.S859= |
Synonymous |
13/15 |
- |
1 |
10-129907527-T-C |
c.2577A>G |
p.S859= |
Synonymous |
13/15 |
- |
1 |
10-129907527-T-G |
c.2577A>C |
p.S859= |
Synonymous |
13/15 |
- |
1 |
10-129907528-G-C |
c.2576C>G |
p.S859* |
Nonsense |
13/15 |
- |
2 |
10-129907528-G-T |
c.2576C>A |
p.S859* |
Nonsense |
13/15 |
- |
1 |
10-129907529-A-G |
c.2575T>C |
p.S859P |
Missense |
13/15 |
- |
1 |
10-129907533-T-C |
c.2571A>G |
p.K857= |
Synonymous |
13/15 |
- |
2 |
10-129907535-T-A |
c.2569A>T |
p.K857* |
Nonsense |
13/15 |
- |
1 |
10-129907542-C-A |
c.2562G>T |
p.L854= |
Synonymous |
13/15 |
- |
1 |
10-129907542-C-G |
c.2562G>C |
p.L854= |
Synonymous |
13/15 |
- |
1 |
10-129907542-C-T |
c.2562G>A |
p.L854= |
Synonymous |
13/15 |
- |
1 |
10-129907544-G-A |
c.2560C>T |
p.L854= |
Synonymous |
13/15 |
- |
2 |
10-129907544-G-C |
c.2560C>G |
p.L854V |
Missense |
13/15 |
- |
20 |
10-129907546-GA-CG |
c.2557_2558delinsCG |
p.S853R |
Missense |
13/15 |
- |
1 |
10-129907546-G-T |
c.2558C>A |
p.S853Y |
Missense |
13/15 |
- |
3 |
10-129907551-C-A |
c.2553G>T |
p.M851I |
Missense |
13/15 |
- |
1 |
10-129907551-C-G |
c.2553G>C |
p.M851I |
Missense |
13/15 |
- |
1 |
10-129907551-C-T |
c.2553G>A |
p.M851I |
Missense |
13/15 |
- |
1 |
10-129907554-T-A |
c.2550A>T |
p.K850N |
Missense |
13/15 |
- |
1 |
10-129907554-T-G |
c.2550A>C |
p.K850N |
Missense |
13/15 |
- |
1 |
10-129907552-ATT-A |
c.2550_2551del |
p.K850Nfs*12 |
Frameshift |
13/15 |
- |
1 |
10-129907556-T-C |
c.2548A>G |
p.K850E |
Missense |
13/15 |
- |
1 |
10-129907564-TT-GC |
c.2539_2540delinsGC |
p.N847A |
Missense |
13/15 |
- |
1 |
10-129907569-GGG-TTA |
c.2533_2535delinsTAA |
p.P845* |
Nonsense |
13/15 |
- |
1 |
10-129907572-C-A |
c.2532G>T |
p.T844= |
Synonymous |
13/15 |
- |
1 |
10-129907572-C-G |
c.2532G>C |
p.T844= |
Synonymous |
13/15 |
- |
1 |
10-129907572-C-T |
c.2532G>A |
p.T844= |
Synonymous |
13/15 |
- |
1 |
10-129907573-G-A |
c.2531C>T |
p.T844M |
Missense |
13/15 |
- |
1 |
10-129907575-T-C |
c.2529A>G |
p.K843= |
Synonymous |
13/15 |
- |
3 |
10-129907577-T-A |
c.2527A>T |
p.K843* |
Nonsense |
13/15 |
- |
1 |
10-129907573-G-GT |
c.2530dup |
p.T844Nfs*19 |
Frameshift |
13/15 |
- |
1 |
10-129907573-GT-G |
c.2530del |
p.T844Rfs*8 |
Frameshift |
13/15 |
- |
2 |
10-129907583-C-T |
c.2521G>A |
p.V841I |
Missense |
13/15 |
- |
3 |
10-129907588-CC-GT |
c.2515_2516delinsAC |
p.G839T |
Missense |
13/15 |
- |
1 |
10-129907588-C-T |
c.2516G>A |
p.G839E |
Missense |
13/15 |
- |
1 |
10-129907590-A-G |
c.2514T>C |
p.N838= |
Synonymous |
13/15 |
- |
1 |
10-129907592-T-C |
c.2512A>G |
p.N838D |
Missense |
13/15 |
- |
1 |
10-129907594-T-C |
c.2510A>G |
p.E837G |
Missense |
13/15 |
- |
1 |
10-129907597-C-A |
c.2507G>T |
p.R836I |
Missense |
13/15 |
- |
1 |
10-129907597-C-G |
c.2507G>C |
p.R836T |
Missense |
13/15 |
- |
6 |
10-129907601-AT-A |
c.2503del |
p.I835Lfs*7 |
Frameshift |
13/15 |
- |
1 |
10-129907602-A-G |
c.2502T>C |
p.C834= |
Synonymous |
13/15 |
- |
1 |
10-129907603-C-A |
c.2501G>T |
p.C834F |
Missense |
13/15 |
- |
1 |
10-129907605-C-A |
c.2499G>T |
p.Q833H |
Missense |
13/15 |
- |
1 |
10-129907609-C-A |
c.2495G>T |
p.R832L |
Missense |
13/15 |
- |
1 |
10-129907609-C-T |
c.2495G>A |
p.R832Q |
Missense |
13/15 |
- |
1 |
10-129907608-C-A |
c.2496G>T |
p.R832= |
Synonymous |
13/15 |
- |
1 |
10-129907608-C-G |
c.2496G>C |
p.R832= |
Synonymous |
13/15 |
- |
1 |
10-129907608-C-T |
c.2496G>A |
p.R832= |
Synonymous |
13/15 |
- |
1 |
10-129907610-CG-C |
c.2494del |
p.R832Gfs*10 |
Frameshift |
13/15 |
- |
1 |
10-129907610-G-A |
c.2494C>T |
p.R832W |
Missense |
13/15 |
- |
12 |
10-129907610-G-T |
c.2494C>A |
p.R832= |
Synonymous |
13/15 |
- |
1 |
10-129907612-C-G |
c.2492G>C |
p.R831T |
Missense |
13/15 |
- |
1 |
10-129907614-T-A |
c.2490A>T |
p.L830F |
Missense |
13/15 |
- |
1 |
10-129907614-T-G |
c.2490A>C |
p.L830F |
Missense |
13/15 |
- |
1 |
10-129907626-TGC-ACA |
c.2476_2478delinsTGT |
p.A826C |
Missense |
13/15 |
- |
1 |
10-129907627-G-A |
c.2477C>T |
p.A826V |
Missense |
13/15 |
- |
1 |
10-129907629-A-G |
c.2475T>C |
p.S825= |
Synonymous |
13/15 |
- |
1 |
10-129907630-GA-CC |
c.2473_2474delinsGG |
p.S825G |
Missense |
13/15 |
- |
1 |
10-129907630-GA-TC |
c.2473_2474inv |
p.S825D |
Missense |
13/15 |
- |
1 |
10-129907631-A-C |
c.2473T>G |
p.S825A |
Missense |
13/15 |
- |
1 |
10-129907631-A-G |
c.2473T>C |
p.S825P |
Missense |
13/15 |
- |
1 |
10-129907631-A-T |
c.2473T>A |
p.S825T |
Missense |
13/15 |
- |
2 |
10-129907632-G-T |
c.2472C>A |
p.C824* |
Nonsense |
13/15 |
- |
1 |
10-129907639-T-A |
c.2465A>T |
p.D822V |
Missense |
13/15 |
- |
2 |
10-129907661-T-A |
c.2443A>T |
p.N815Y |
Missense |
13/15 |
- |
1 |
10-129907666-G-T |
c.2438C>A |
p.A813E |
Missense |
13/15 |
- |
2 |
10-129907667-C-A |
c.2437G>T |
p.A813S |
Missense |
13/15 |
- |
1 |
10-129907669-CT-GC |
c.2434_2435delinsGC |
p.S812A |
Missense |
13/15 |
- |
1 |
10-129907686-TC-GT |
c.2417_2418delinsAC |
p.G806D |
Missense |
13/15 |
- |
1 |
10-129907741-G-A |
c.2417-54C>T |
- |
IntronicSNV |
- |
12/14 |
4 |
10-129908642-C-G |
c.2416G>C |
p.G806R |
Missense |
12/15 |
- |
1 |
10-129908644-A-G |
c.2414T>C |
p.F805S |
Missense |
12/15 |
- |
1 |
10-129908656-G-T |
c.2402C>A |
p.T801N |
Missense |
12/15 |
- |
1 |
10-129908654-AGGTGG-A |
c.2399_2403del |
p.P800Lfs*21 |
Frameshift |
12/15 |
- |
1 |
10-129908660-G-A |
c.2398C>T |
p.P800S |
Missense |
12/15 |
- |
2 |
10-129908660-G-T |
c.2398C>A |
p.P800T |
Missense |
12/15 |
- |
1 |
10-129908661-G-A |
c.2397C>T |
p.L799= |
Synonymous |
12/15 |
- |
1 |
10-129908661-G-C |
c.2397C>G |
p.L799= |
Synonymous |
12/15 |
- |
1 |
10-129908661-G-T |
c.2397C>A |
p.L799= |
Synonymous |
12/15 |
- |
1 |
10-129908664-CAG-AAA |
c.2392_2394delinsTTT |
p.L798F |
Missense |
12/15 |
- |
1 |
10-129908665-A-G |
c.2393T>C |
p.L798P |
Missense |
12/15 |
- |
1 |
10-129908665-A-T |
c.2393T>A |
p.L798Q |
Missense |
12/15 |
- |
1 |
10-129908667-A-C |
c.2391T>G |
p.P797= |
Synonymous |
12/15 |
- |
1 |
10-129908668-G-A |
c.2390C>T |
p.P797L |
Missense |
12/15 |
- |
1 |
10-129908668-G-T |
c.2390C>A |
p.P797H |
Missense |
12/15 |
- |
1 |
10-129908674-T-C |
c.2384A>G |
p.E795G |
Missense |
12/15 |
- |
1 |
10-129908675-C-T |
c.2383G>A |
p.E795K |
Missense |
12/15 |
- |
2 |
10-129908679-T-A |
c.2379A>T |
p.S793= |
Synonymous |
12/15 |
- |
1 |
10-129908679-T-C |
c.2379A>G |
p.S793= |
Synonymous |
12/15 |
- |
1 |
10-129908679-T-G |
c.2379A>C |
p.S793= |
Synonymous |
12/15 |
- |
1 |
10-129908679-TGA-GTT |
c.2377_2379delinsAAC |
p.S793N |
Missense |
12/15 |
- |
1 |
10-129908683-T-C |
c.2375A>G |
p.D792G |
Missense |
12/15 |
- |
1 |
10-129908687-T-C |
c.2371A>G |
p.T791A |
Missense |
12/15 |
- |
1 |
10-129908689-CC-GT |
c.2368_2369delinsAC |
p.G790T |
Missense |
12/15 |
- |
1 |
10-129908689-C-G |
c.2369G>C |
p.G790A |
Missense |
12/15 |
- |
1 |
10-129908689-C-T |
c.2369G>A |
p.G790E |
Missense |
12/15 |
- |
1 |
10-129908690-C-G |
c.2368G>C |
p.G790R |
Missense |
12/15 |
- |
1 |
10-129908692-T-C |
c.2366A>G |
p.Q789R |
Missense |
12/15 |
- |
1 |
10-129908693-G-A |
c.2365C>T |
p.Q789* |
Nonsense |
12/15 |
- |
1 |
10-129908691-TTGAAAC-T |
c.2361_2366del |
p.F788_Q789del |
InFrameDeletion |
12/15 |
- |
1 |
10-129908697-C-T |
c.2361G>A |
p.Q787= |
Synonymous |
12/15 |
- |
1 |
10-129908698-T-A |
c.2360A>T |
p.Q787L |
Missense |
12/15 |
- |
5 |
10-129908702-T-A |
c.2356A>T |
p.K786* |
Nonsense |
12/15 |
- |
1 |
10-129908699-GT-G |
c.2358del |
p.K786Nfs*45 |
Frameshift |
12/15 |
- |
1 |
10-129908704-C-T |
c.2354G>A |
p.G785E |
Missense |
12/15 |
- |
3 |
10-129908705-C-G |
c.2353G>C |
p.G785R |
Missense |
12/15 |
- |
1 |
10-129908705-C-T |
c.2353G>A |
p.G785R |
Missense |
12/15 |
- |
1 |
10-129908708-G-A |
c.2350C>T |
p.L784F |
Missense |
12/15 |
- |
2 |
10-129908709-C-A |
c.2349G>T |
p.L783F |
Missense |
12/15 |
- |
1 |
10-129908709-C-G |
c.2349G>C |
p.L783F |
Missense |
12/15 |
- |
2 |
10-129908718-TG-AA |
c.2339_2340delinsTT |
p.S780F |
Missense |
12/15 |
- |
1 |
10-129908722-T-C |
c.2336A>G |
p.N779S |
Missense |
12/15 |
- |
1 |
10-129908725-G-A |
c.2333C>T |
p.S778L |
Missense |
12/15 |
- |
1 |
10-129908731-G-A |
c.2327C>T |
p.A776V |
Missense |
12/15 |
- |
5 |
10-129908731-G-C |
c.2327C>G |
p.A776G |
Missense |
12/15 |
- |
1 |
10-129908732-C-T |
c.2326G>A |
p.A776T |
Missense |
12/15 |
- |
3 |
10-129908736-G-A |
c.2322C>T |
p.H774= |
Synonymous |
12/15 |
- |
1 |
10-129908739-ACA-CTC |
c.2317_2319delinsGAG |
p.C773E |
Missense |
12/15 |
- |
1 |
10-129908739-A-G |
c.2319T>C |
p.C773= |
Synonymous |
12/15 |
- |
2 |
10-129908750-T-C |
c.2308A>G |
p.T770A |
Missense |
12/15 |
- |
1 |
10-129908751-C-T |
c.2307G>A |
p.L769= |
Synonymous |
12/15 |
- |
1 |
10-129908752-AA-TG |
c.2305_2306delinsCA |
p.L769Q |
Missense |
12/15 |
- |
1 |
10-129908752-A-G |
c.2306T>C |
p.L769S |
Missense |
12/15 |
- |
1 |
10-129908756-G-A |
c.2302C>T |
p.Q768* |
Nonsense |
12/15 |
- |
1 |
10-129908757-C-A |
c.2301G>T |
p.P767= |
Synonymous |
12/15 |
- |
1 |
10-129908757-C-G |
c.2301G>C |
p.P767= |
Synonymous |
12/15 |
- |
1 |
10-129908757-C-T |
c.2301G>A |
p.P767= |
Synonymous |
12/15 |
- |
4 |
10-129908758-G-A |
c.2300C>T |
p.P767L |
Missense |
12/15 |
- |
3 |
10-129908758-G-T |
c.2300C>A |
p.P767Q |
Missense |
12/15 |
- |
3 |
10-129908768-T-G |
c.2290A>C |
p.K764Q |
Missense |
12/15 |
- |
1 |
10-129908769-C-A |
c.2289G>T |
p.V763= |
Synonymous |
12/15 |
- |
1 |
10-129908769-C-G |
c.2289G>C |
p.V763= |
Synonymous |
12/15 |
- |
1 |
10-129908769-C-T |
c.2289G>A |
p.V763= |
Synonymous |
12/15 |
- |
1 |
10-129908771-C-A |
c.2287G>T |
p.V763L |
Missense |
12/15 |
- |
1 |
10-129908771-C-G |
c.2287G>C |
p.V763L |
Missense |
12/15 |
- |
1 |
10-129908772-T-A |
c.2286A>T |
p.P762= |
Synonymous |
12/15 |
- |
1 |
10-129908772-T-C |
c.2286A>G |
p.P762= |
Synonymous |
12/15 |
- |
1 |
10-129908772-T-G |
c.2286A>C |
p.P762= |
Synonymous |
12/15 |
- |
1 |
10-129908774-G-A |
c.2284C>T |
p.P762S |
Missense |
12/15 |
- |
1 |
10-129908775-G-A |
c.2283C>T |
p.T761= |
Synonymous |
12/15 |
- |
1 |
10-129908775-G-C |
c.2283C>G |
p.T761= |
Synonymous |
12/15 |
- |
1 |
10-129908775-G-T |
c.2283C>A |
p.T761= |
Synonymous |
12/15 |
- |
1 |
10-129908777-T-C |
c.2281A>G |
p.T761A |
Missense |
12/15 |
- |
1 |
10-129908778-C-T |
c.2280G>A |
p.K760= |
Synonymous |
12/15 |
- |
1 |
10-129908781-G-A |
c.2277C>T |
p.F759= |
Synonymous |
12/15 |
- |
1 |
10-129908791-GC-CA |
c.2266_2267delinsTG |
p.A756C |
Missense |
12/15 |
- |
1 |
10-129908797-C-T |
c.2261G>A |
p.G754E |
Missense |
12/15 |
- |
1 |
10-129908986-C-A |
c.2261-189G>T |
- |
IntronicSNV |
- |
11/14 |
1 |
10-129909913-A-C |
c.2256T>G |
p.L752= |
Synonymous |
11/15 |
- |
1 |
10-129909913-A-G |
c.2256T>C |
p.L752= |
Synonymous |
11/15 |
- |
1 |
10-129909913-A-T |
c.2256T>A |
p.L752= |
Synonymous |
11/15 |
- |
1 |
10-129909915-G-A |
c.2254C>T |
p.L752F |
Missense |
11/15 |
- |
2 |
10-129909915-G-T |
c.2254C>A |
p.L752I |
Missense |
11/15 |
- |
1 |
10-129909916-A-C |
c.2253T>G |
p.D751E |
Missense |
11/15 |
- |
1 |
10-129909916-A-T |
c.2253T>A |
p.D751E |
Missense |
11/15 |
- |
1 |
10-129909918-C-A |
c.2251G>T |
p.D751Y |
Missense |
11/15 |
- |
3 |
10-129909918-C-G |
c.2251G>C |
p.D751H |
Missense |
11/15 |
- |
1 |
10-129909919-T-A |
c.2250A>T |
p.E750D |
Missense |
11/15 |
- |
1 |
10-129909919-T-G |
c.2250A>C |
p.E750D |
Missense |
11/15 |
- |
1 |
10-129909920-T-C |
c.2249A>G |
p.E750G |
Missense |
11/15 |
- |
1 |
10-129909928-G-A |
c.2241C>T |
p.D747= |
Synonymous |
11/15 |
- |
1 |
10-129909929-T-A |
c.2240A>T |
p.D747V |
Missense |
11/15 |
- |
1 |
10-129909929-T-G |
c.2240A>C |
p.D747A |
Missense |
11/15 |
- |
2 |
10-129909930-C-T |
c.2239G>A |
p.D747N |
Missense |
11/15 |
- |
1 |
10-129909936-T-A |
c.2233A>T |
p.K745* |
Nonsense |
11/15 |
- |
1 |
10-129909936-T-C |
c.2233A>G |
p.K745E |
Missense |
11/15 |
- |
1 |
10-129909937-T-C |
c.2232A>G |
p.Q744= |
Synonymous |
11/15 |
- |
2 |
10-129909932-A-AT |
c.2236dup |
p.M746Nfs*4 |
Frameshift |
11/15 |
- |
1 |
10-129909932-AT-A |
c.2236del |
p.M746Wfs*10 |
Frameshift |
11/15 |
- |
1 |
10-129909940-G-C |
c.2229C>G |
p.N743K |
Missense |
11/15 |
- |
1 |
10-129909950-A-T |
c.2219T>A |
p.F740Y |
Missense |
11/15 |
- |
1 |
10-129909956-T-C |
c.2213A>G |
p.N738S |
Missense |
11/15 |
- |
1 |
10-129909958-G-A |
c.2211C>T |
p.L737= |
Synonymous |
11/15 |
- |
1 |
10-129909958-G-C |
c.2211C>G |
p.L737= |
Synonymous |
11/15 |
- |
1 |
10-129909958-G-T |
c.2211C>A |
p.L737= |
Synonymous |
11/15 |
- |
1 |
10-129909965-C-T |
c.2204G>A |
p.R735K |
Missense |
11/15 |
- |
1 |
10-129909974-C-A |
c.2195G>T |
p.R732L |
Missense |
11/15 |
- |
1 |
10-129909974-C-T |
c.2195G>A |
p.R732Q |
Missense |
11/15 |
- |
1 |
10-129909975-G-A |
c.2194C>T |
p.R732* |
Nonsense |
11/15 |
- |
3 |
10-129909982-CAC-GAT |
c.2185_2187delinsATC |
p.V729I |
Missense |
11/15 |
- |
2 |
10-129909982-C-T |
c.2187G>A |
p.V729= |
Synonymous |
11/15 |
- |
1 |
10-129909983-A-G |
c.2186T>C |
p.V729A |
Missense |
11/15 |
- |
1 |
10-129909985-A-G |
c.2184T>C |
p.H728= |
Synonymous |
11/15 |
- |
1 |
10-129909986-T-C |
c.2183A>G |
p.H728R |
Missense |
11/15 |
- |
1 |
10-129909988-TAC-CAT |
c.2179_2181delinsATG |
p.V727M |
Missense |
11/15 |
- |
1 |
10-129909997-AG-CA |
c.2171_2172delinsTG |
p.T724M |
Missense |
11/15 |
- |
1 |
10-129909998-G-A |
c.2171C>T |
p.T724I |
Missense |
11/15 |
- |
1 |
10-129909998-G-C |
c.2171C>G |
p.T724S |
Missense |
11/15 |
- |
1 |
10-129910002-G-A |
c.2167C>T |
p.H723Y |
Missense |
11/15 |
- |
1 |
10-129910004-G-C |
c.2165C>G |
p.A722G |
Missense |
11/15 |
- |
2 |
10-129910005-C-A |
c.2164G>T |
p.A722S |
Missense |
11/15 |
- |
1 |
10-129910006-TT-CA |
c.2162_2163delinsTG |
p.K721M |
Missense |
11/15 |
- |
1 |
10-129910007-T-C |
c.2162A>G |
p.K721R |
Missense |
11/15 |
- |
1 |
10-129910007-TT-GC |
c.2161_2162delinsGC |
p.K721A |
Missense |
11/15 |
- |
2 |
10-129910009-C-T |
c.2160G>A |
p.G720= |
Synonymous |
11/15 |
- |
1 |
10-129910010-C-G |
c.2159G>C |
p.G720A |
Missense |
11/15 |
- |
1 |
10-129910011-C-A |
c.2158G>T |
p.G720W |
Missense |
11/15 |
- |
2 |
10-129910011-C-G |
c.2158G>C |
p.G720R |
Missense |
11/15 |
- |
1 |
10-129910011-C-T |
c.2158G>A |
p.G720R |
Missense |
11/15 |
- |
1 |
10-129910017-T-C |
c.2152A>G |
p.I718V |
Missense |
11/15 |
- |
1 |
10-129910020-TG-T |
c.2148del |
p.I717* |
Frameshift |
11/15 |
- |
1 |
10-129910022-G-A |
c.2147C>T |
p.T716I |
Missense |
11/15 |
- |
3 |
10-129910022-GT-CC |
c.2146_2147delinsGG |
p.T716G |
Missense |
11/15 |
- |
1 |
10-129910025-CA-GT |
c.2143_2144delinsAC |
p.C715T |
Missense |
11/15 |
- |
1 |
10-129910025-C-G |
c.2144G>C |
p.C715S |
Missense |
11/15 |
- |
1 |
10-129910026-A-G |
c.2143T>C |
p.C715R |
Missense |
11/15 |
- |
1 |
10-129910026-A-T |
c.2143T>A |
p.C715S |
Missense |
11/15 |
- |
1 |
10-129910031-G-A |
c.2138C>T |
p.S713F |
Missense |
11/15 |
- |
2 |
10-129910032-A-G |
c.2137T>C |
p.S713P |
Missense |
11/15 |
- |
3 |
10-129910033-G-A |
c.2136C>T |
p.N712= |
Synonymous |
11/15 |
- |
1 |
10-129910038-C-T |
c.2131G>A |
p.A711T |
Missense |
11/15 |
- |
6 |
10-129910039-G-A |
c.2130C>T |
p.H710= |
Synonymous |
11/15 |
- |
1 |
10-129910040-T-C |
c.2129A>G |
p.H710R |
Missense |
11/15 |
- |
1 |
10-129910040-T-G |
c.2129A>C |
p.H710P |
Missense |
11/15 |
- |
1 |
10-129910041-G-A |
c.2128C>T |
p.H710Y |
Missense |
11/15 |
- |
1 |
10-129910043-CC-AG |
c.2125_2126delinsCT |
p.G709L |
Missense |
11/15 |
- |
1 |
10-129910047-T-C |
c.2122A>G |
p.T708A |
Missense |
11/15 |
- |
4 |
10-129910048-A-G |
c.2121T>C |
p.S707= |
Synonymous |
11/15 |
- |
1 |
10-129910049-C-T |
c.2120G>A |
p.S707N |
Missense |
11/15 |
- |
1 |
10-129910049-CT-GC |
c.2119_2120delinsGC |
p.S707A |
Missense |
11/15 |
- |
1 |
10-129910051-A-T |
c.2118T>A |
p.F706L |
Missense |
11/15 |
- |
2 |
10-129910056-G-T |
c.2113C>A |
p.Q705K |
Missense |
11/15 |
- |
2 |
10-129910059-T-TA |
c.2109_2110insT |
p.S704* |
Nonsense |
11/15 |
- |
1 |
10-129910060-G-A |
c.2109C>T |
p.H703= |
Synonymous |
11/15 |
- |
1 |
10-129910062-G-T |
c.2107C>A |
p.H703N |
Missense |
11/15 |
- |
5 |
10-129910062-TG-T |
c.2107del |
p.H703Tfs*15 |
Frameshift |
11/15 |
- |
1 |
10-129910063-A-C |
c.2106T>G |
p.V702= |
Synonymous |
11/15 |
- |
1 |
10-129910063-A-G |
c.2106T>C |
p.V702= |
Synonymous |
11/15 |
- |
1 |
10-129910063-A-T |
c.2106T>A |
p.V702= |
Synonymous |
11/15 |
- |
2 |
10-129910064-A-G |
c.2105T>C |
p.V702A |
Missense |
11/15 |
- |
5 |
10-129910068-C-T |
c.2101G>A |
p.E701K |
Missense |
11/15 |
- |
1 |
10-129910069-G-A |
c.2100C>T |
p.G700= |
Synonymous |
11/15 |
- |
2 |
10-129910069-G-C |
c.2100C>G |
p.G700= |
Synonymous |
11/15 |
- |
2 |
10-129910069-G-T |
c.2100C>A |
p.G700= |
Synonymous |
11/15 |
- |
2 |
10-129910072-C-T |
c.2097G>A |
p.V699= |
Synonymous |
11/15 |
- |
3 |
10-129910073-A-T |
c.2096T>A |
p.V699E |
Missense |
11/15 |
- |
1 |
10-129910075-A-T |
c.2094T>A |
p.P698= |
Synonymous |
11/15 |
- |
1 |
10-129910190-C-A |
c.2088+1G>T |
- |
IntronicSNV |
- |
10/14 |
1 |
10-129910196-G-A |
c.2083C>T |
p.P695S |
Missense |
10/15 |
- |
1 |
10-129910197-A-T |
c.2082T>A |
p.T694= |
Synonymous |
10/15 |
- |
1 |
10-129910198-G-T |
c.2081C>A |
p.T694N |
Missense |
10/15 |
- |
1 |
10-129910203-A-C |
c.2076T>G |
p.P692= |
Synonymous |
10/15 |
- |
1 |
10-129910203-A-G |
c.2076T>C |
p.P692= |
Synonymous |
10/15 |
- |
1 |
10-129910203-A-T |
c.2076T>A |
p.P692= |
Synonymous |
10/15 |
- |
1 |
10-129910205-G-T |
c.2074C>A |
p.P692T |
Missense |
10/15 |
- |
1 |
10-129910210-CT-TG |
c.2068_2069delinsCA |
p.R690Q |
Missense |
10/15 |
- |
1 |
10-129910213-T-C |
c.2066A>G |
p.Q689R |
Missense |
10/15 |
- |
1 |
10-129910214-G-A |
c.2065C>T |
p.Q689* |
Nonsense |
10/15 |
- |
1 |
10-129910215-CCT-ACA |
c.2062_2064delinsTGT |
p.R688C |
Missense |
10/15 |
- |
1 |
10-129910215-CCT-ATG |
c.2062_2064delinsCAT |
p.R688H |
Missense |
10/15 |
- |
1 |
10-129910215-C-T |
c.2064G>A |
p.R688= |
Synonymous |
10/15 |
- |
1 |
10-129910228-GA-AT |
c.2050_2051delinsAT |
p.S684I |
Missense |
10/15 |
- |
1 |
10-129910228-GA-CC |
c.2050_2051delinsGG |
p.S684G |
Missense |
10/15 |
- |
1 |
10-129910233-T-C |
c.2046A>G |
p.Q682= |
Synonymous |
10/15 |
- |
1 |
10-129910235-G-A |
c.2044C>T |
p.Q682* |
Nonsense |
10/15 |
- |
1 |
10-129910237-G-C |
c.2042C>G |
p.P681R |
Missense |
10/15 |
- |
2 |
10-129910237-G-T |
c.2042C>A |
p.P681H |
Missense |
10/15 |
- |
3 |
10-129910240-C-G |
c.2039G>C |
p.G680A |
Missense |
10/15 |
- |
1 |
10-129910240-C-T |
c.2039G>A |
p.G680D |
Missense |
10/15 |
- |
1 |
10-129910247-T-C |
c.2032A>G |
p.K678E |
Missense |
10/15 |
- |
1 |
10-129910252-A-C |
c.2027T>G |
p.V676G |
Missense |
10/15 |
- |
1 |
10-129910258-G-A |
c.2021C>T |
p.T674I |
Missense |
10/15 |
- |
3 |
10-129910264-G-GT |
c.2014dup |
p.T672Nfs*4 |
Frameshift |
10/15 |
- |
3 |
10-129910269-TT-CA |
c.2009_2010delinsTG |
p.K670M |
Missense |
10/15 |
- |
1 |
10-129910271-T-A |
c.2008A>T |
p.K670* |
Nonsense |
10/15 |
- |
1 |
10-129910272-T-A |
c.2007A>T |
p.A669= |
Synonymous |
10/15 |
- |
1 |
10-129910272-T-C |
c.2007A>G |
p.A669= |
Synonymous |
10/15 |
- |
1 |
10-129910272-T-G |
c.2007A>C |
p.A669= |
Synonymous |
10/15 |
- |
1 |
10-129910272-TGC-ACA |
c.2005_2007delinsTGT |
p.A669C |
Missense |
10/15 |
- |
1 |
10-129910268-GTTTTGCACCAAGTTTTACTACATCTGCCCATGA-G |
c.1978_2010del |
p.S660_K670del |
InFrameDeletion |
10/15 |
- |
1 |
10-129910276-C-A |
c.2003G>T |
p.G668V |
Missense |
10/15 |
- |
1 |
10-129910276-C-T |
c.2003G>A |
p.G668D |
Missense |
10/15 |
- |
1 |
10-129910277-C-A |
c.2002G>T |
p.G668C |
Missense |
10/15 |
- |
2 |
10-129910277-C-G |
c.2002G>C |
p.G668R |
Missense |
10/15 |
- |
1 |
10-129910277-C-T |
c.2002G>A |
p.G668S |
Missense |
10/15 |
- |
1 |
10-129910278-A-C |
c.2001T>G |
p.L667= |
Synonymous |
10/15 |
- |
2 |
10-129910278-A-G |
c.2001T>C |
p.L667= |
Synonymous |
10/15 |
- |
2 |
10-129910278-A-T |
c.2001T>A |
p.L667= |
Synonymous |
10/15 |
- |
2 |
10-129910280-G-A |
c.1999C>T |
p.L667F |
Missense |
10/15 |
- |
2 |
10-129910283-T-C |
c.1996A>G |
p.K666E |
Missense |
10/15 |
- |
1 |
10-129910283-T-TA |
c.1995_1996insT |
p.K666* |
Nonsense |
10/15 |
- |
1 |
10-129910286-C-A |
c.1993G>T |
p.V665L |
Missense |
10/15 |
- |
1 |
10-129910286-C-G |
c.1993G>C |
p.V665L |
Missense |
10/15 |
- |
1 |
10-129910287-TAC-AAA |
c.1990_1992delinsTTT |
p.V664F |
Missense |
10/15 |
- |
1 |
10-129910288-A-T |
c.1991T>A |
p.V664E |
Missense |
10/15 |
- |
6 |
10-129910291-T-C |
c.1988A>G |
p.D663G |
Missense |
10/15 |
- |
4 |
10-129910293-T-A |
c.1986A>T |
p.A662= |
Synonymous |
10/15 |
- |
1 |
10-129910293-T-C |
c.1986A>G |
p.A662= |
Synonymous |
10/15 |
- |
1 |
10-129910293-T-G |
c.1986A>C |
p.A662= |
Synonymous |
10/15 |
- |
1 |
10-129910293-TGC-ACA |
c.1984_1986delinsTGT |
p.A662C |
Missense |
10/15 |
- |
1 |
10-129910295-C-T |
c.1984G>A |
p.A662T |
Missense |
10/15 |
- |
2 |
10-129910296-C-T |
c.1983G>A |
p.W661* |
Nonsense |
10/15 |
- |
1 |
10-129910297-C-T |
c.1982G>A |
p.W661* |
Nonsense |
10/15 |
- |
1 |
10-129910299-TGA-GTC |
c.1978_1980delinsGAC |
p.S660D |
Missense |
10/15 |
- |
1 |
10-129910301-A-C |
c.1978T>G |
p.S660A |
Missense |
10/15 |
- |
1 |
10-129910300-GATTTTGC-G |
c.1972_1978del |
p.A658Hfs*5 |
Frameshift |
10/15 |
- |
1 |
10-129910306-G-A |
c.1973C>T |
p.A658V |
Missense |
10/15 |
- |
1 |
10-129910366-C-A |
c.1969+31G>T |
- |
IntronicSNV |
- |
9/14 |
1 |
10-129910366-C-T |
c.1969+31G>A |
- |
IntronicSNV |
- |
9/14 |
1 |
10-129910413-C-A |
c.1953G>T |
p.S651= |
Synonymous |
9/15 |
- |
1 |
10-129910413-C-G |
c.1953G>C |
p.S651= |
Synonymous |
9/15 |
- |
1 |
10-129910413-CG-AA |
c.1952_1953delinsTT |
p.S651F |
Missense |
9/15 |
- |
1 |
10-129910413-C-T |
c.1953G>A |
p.S651= |
Synonymous |
9/15 |
- |
4 |
10-129910417-G-A |
c.1949C>T |
p.A650V |
Missense |
9/15 |
- |
1 |
10-129910417-G-C |
c.1949C>G |
p.A650G |
Missense |
9/15 |
- |
1 |
10-129910418-C-A |
c.1948G>T |
p.A650S |
Missense |
9/15 |
- |
2 |
10-129910418-C-T |
c.1948G>A |
p.A650T |
Missense |
9/15 |
- |
1 |
10-129910419-A-C |
c.1947T>G |
p.G649= |
Synonymous |
9/15 |
- |
1 |
10-129910419-A-G |
c.1947T>C |
p.G649= |
Synonymous |
9/15 |
- |
1 |
10-129910419-A-T |
c.1947T>A |
p.G649= |
Synonymous |
9/15 |
- |
1 |
10-129910420-C-G |
c.1946G>C |
p.G649A |
Missense |
9/15 |
- |
1 |
10-129910424-T-G |
c.1942A>C |
p.S648R |
Missense |
9/15 |
- |
1 |
10-129910424-T-TA |
c.1941_1942insT |
p.S648* |
Nonsense |
9/15 |
- |
1 |
10-129910426-CT-TG |
c.1939_1940delinsCA |
p.R647Q |
Missense |
9/15 |
- |
1 |
10-129910434-G-A |
c.1932C>T |
p.S644= |
Synonymous |
9/15 |
- |
3 |
10-129910435-G-A |
c.1931C>T |
p.S644F |
Missense |
9/15 |
- |
1 |
10-129910438-CA-GC |
c.1927_1928delinsGC |
p.C643A |
Missense |
9/15 |
- |
1 |
10-129910439-A-G |
c.1927T>C |
p.C643R |
Missense |
9/15 |
- |
1 |
10-129910439-A-T |
c.1927T>A |
p.C643S |
Missense |
9/15 |
- |
1 |
10-129910440-AT-A |
c.1926del |
p.C643Vfs*13 |
Frameshift |
9/15 |
- |
1 |
10-129910448-G-C |
c.1918C>G |
p.Q640E |
Missense |
9/15 |
- |
1 |
10-129910454-T-G |
c.1912A>C |
p.I638L |
Missense |
9/15 |
- |
1 |
10-129910455-A-C |
c.1911T>G |
p.D637E |
Missense |
9/15 |
- |
1 |
10-129910460-G-T |
c.1906C>A |
p.H636N |
Missense |
9/15 |
- |
1 |
10-129910463-G-T |
c.1903C>A |
p.Q635K |
Missense |
9/15 |
- |
1 |
10-129910464-A-C |
c.1902T>G |
p.S634R |
Missense |
9/15 |
- |
3 |
10-129910464-A-T |
c.1902T>A |
p.S634R |
Missense |
9/15 |
- |
3 |
10-129910466-T-G |
c.1900A>C |
p.S634R |
Missense |
9/15 |
- |
3 |
10-129910465-C-A |
c.1901G>T |
p.S634I |
Missense |
9/15 |
- |
1 |
10-129910465-CT-C |
c.1900del |
p.S634Vfs*8 |
Frameshift |
9/15 |
- |
1 |
10-129910468-C-A |
c.1898G>T |
p.R633L |
Missense |
9/15 |
- |
1 |
10-129910468-C-T |
c.1898G>A |
p.R633Q |
Missense |
9/15 |
- |
6 |
10-129910468-C-CG |
c.1897dup |
p.R633Pfs*5 |
Frameshift |
9/15 |
- |
1 |
10-129910470-G-A |
c.1896C>T |
p.S632= |
Synonymous |
9/15 |
- |
2 |
10-129910471-C-G |
c.1895G>C |
p.S632T |
Missense |
9/15 |
- |
1 |
10-129910471-C-T |
c.1895G>A |
p.S632N |
Missense |
9/15 |
- |
1 |
10-129910473-G-A |
c.1893C>T |
p.I631= |
Synonymous |
9/15 |
- |
2 |
10-129910473-G-T |
c.1893C>A |
p.I631= |
Synonymous |
9/15 |
- |
2 |
10-129910475-T-C |
c.1891A>G |
p.I631V |
Missense |
9/15 |
- |
1 |
10-129910475-T-G |
c.1891A>C |
p.I631L |
Missense |
9/15 |
- |
14 |
10-129910481-C-A |
c.1885G>T |
p.V629L |
Missense |
9/15 |
- |
1 |
10-129910485-CT-C |
c.1880del |
p.K627Rfs*15 |
Frameshift |
9/15 |
- |
1 |
10-129910488-TTGAA-T |
c.1875_1878del |
p.S626Rfs*15 |
Frameshift |
9/15 |
- |
1 |
10-129910489-G-A |
c.1877C>T |
p.S626L |
Missense |
9/15 |
- |
1 |
10-129910491-A-G |
c.1875T>C |
p.P625= |
Synonymous |
9/15 |
- |
1 |
10-129910495-A-G |
c.1871T>C |
p.L624P |
Missense |
9/15 |
- |
2 |
10-129910501-C-T |
c.1865G>A |
p.G622D |
Missense |
9/15 |
- |
1 |
10-129910504-C-T |
c.1862G>A |
p.S621N |
Missense |
9/15 |
- |
2 |
10-129910504-CT-GC |
c.1861_1862delinsGC |
p.S621A |
Missense |
9/15 |
- |
1 |
10-129910506-C-T |
c.1860G>A |
p.K620= |
Synonymous |
9/15 |
- |
1 |
10-129910508-T-C |
c.1858A>G |
p.K620E |
Missense |
9/15 |
- |
1 |
10-129910509-TCT-CCA |
c.1855_1857delinsTGG |
p.R619W |
Missense |
9/15 |
- |
4 |
10-129910510-CT-GC |
c.1855_1856delinsGC |
p.R619A |
Missense |
9/15 |
- |
1 |
10-129910511-T-A |
c.1855A>T |
p.R619* |
Nonsense |
9/15 |
- |
1 |
10-129910511-T-C |
c.1855A>G |
p.R619G |
Missense |
9/15 |
- |
1 |
10-129910513-C-T |
c.1853G>A |
p.G618E |
Missense |
9/15 |
- |
1 |
10-129910514-C-A |
c.1852G>T |
p.G618W |
Missense |
9/15 |
- |
1 |
10-129910515-TCC-ACA |
c.1849_1851delinsTGT |
p.G617C |
Missense |
9/15 |
- |
1 |
10-129910515-T-G |
c.1851A>C |
p.G617= |
Synonymous |
9/15 |
- |
2 |
10-129910516-C-G |
c.1850G>C |
p.G617A |
Missense |
9/15 |
- |
1 |
10-129910516-C-T |
c.1850G>A |
p.G617E |
Missense |
9/15 |
- |
2 |
10-129910518-TCT-ATG |
c.1846_1848delinsCAT |
p.R616H |
Missense |
9/15 |
- |
1 |
10-129910519-C-A |
c.1847G>T |
p.R616I |
Missense |
9/15 |
- |
1 |
10-129910519-C-T |
c.1847G>A |
p.R616K |
Missense |
9/15 |
- |
2 |
10-129910519-CT-AG |
c.1846_1847inv |
p.R616L |
Missense |
9/15 |
- |
1 |
10-129910519-CT-GC |
c.1846_1847delinsGC |
p.R616A |
Missense |
9/15 |
- |
1 |
10-129910523-TTAG-T |
c.1841_1843del |
p.P614_K615delinsQ |
MultiAAMissense |
9/15 |
- |
1 |
10-129910525-G-C |
c.1841C>G |
p.P614R |
Missense |
9/15 |
- |
1 |
10-129910528-A-C |
c.1838T>G |
p.V613G |
Missense |
9/15 |
- |
1 |
10-129910529-C-A |
c.1837G>T |
p.V613F |
Missense |
9/15 |
- |
1 |
10-129910529-C-T |
c.1837G>A |
p.V613I |
Missense |
9/15 |
- |
1 |
10-129910532-C-T |
c.1834G>A |
p.E612K |
Missense |
9/15 |
- |
1 |
10-129910534-G-A |
c.1832C>T |
p.T611I |
Missense |
9/15 |
- |
1 |
10-129910536-C-T |
c.1830G>A |
p.Q610= |
Synonymous |
9/15 |
- |
2 |
10-129910537-T-A |
c.1829A>T |
p.Q610L |
Missense |
9/15 |
- |
1 |
10-129910537-T-C |
c.1829A>G |
p.Q610R |
Missense |
9/15 |
- |
1 |
10-129910537-T-G |
c.1829A>C |
p.Q610P |
Missense |
9/15 |
- |
1 |
10-129910541-A-G |
c.1825T>C |
p.S609P |
Missense |
9/15 |
- |
1 |
10-129910541-A-T |
c.1825T>A |
p.S609T |
Missense |
9/15 |
- |
1 |
10-129910542-T-A |
c.1824A>T |
p.K608N |
Missense |
9/15 |
- |
1 |
10-129910542-T-G |
c.1824A>C |
p.K608N |
Missense |
9/15 |
- |
1 |
10-129910546-CT-GG |
c.1819_1820delinsCC |
p.S607P |
Missense |
9/15 |
- |
1 |
10-129910548-G-T |
c.1818C>A |
p.S606R |
Missense |
9/15 |
- |
1 |
10-129910549-CT-GC |
c.1816_1817delinsGC |
p.S606A |
Missense |
9/15 |
- |
1 |
10-129910551-G-C |
c.1815C>G |
p.S605= |
Synonymous |
9/15 |
- |
1 |
10-129910552-GA-TT |
c.1813_1814delinsAA |
p.S605N |
Missense |
9/15 |
- |
1 |
10-129910553-A-T |
c.1813T>A |
p.S605T |
Missense |
9/15 |
- |
1 |
10-129910556-C-A |
c.1810G>T |
p.A604S |
Missense |
9/15 |
- |
1 |
10-129910557-A-C |
c.1809T>G |
p.P603= |
Synonymous |
9/15 |
- |
1 |
10-129910557-A-G |
c.1809T>C |
p.P603= |
Synonymous |
9/15 |
- |
1 |
10-129910557-A-T |
c.1809T>A |
p.P603= |
Synonymous |
9/15 |
- |
1 |
10-129910559-G-T |
c.1807C>A |
p.P603T |
Missense |
9/15 |
- |
1 |
10-129910564-GT-CC |
c.1801_1802delinsGG |
p.T601G |
Missense |
9/15 |
- |
1 |
10-129910565-T-C |
c.1801A>G |
p.T601A |
Missense |
9/15 |
- |
1 |
10-129910567-T-A |
c.1799A>T |
p.K600I |
Missense |
9/15 |
- |
1 |
10-129910572-G-A |
c.1794C>T |
p.S598= |
Synonymous |
9/15 |
- |
1 |
10-129910573-G-A |
c.1793C>T |
p.S598F |
Missense |
9/15 |
- |
2 |
10-129910573-GA-AT |
c.1792_1793delinsAT |
p.S598I |
Missense |
9/15 |
- |
1 |
10-129910573-G-C |
c.1793C>G |
p.S598C |
Missense |
9/15 |
- |
1 |
10-129910576-C-G |
c.1790G>C |
p.R597T |
Missense |
9/15 |
- |
1 |
10-129910576-CT-TG |
c.1789_1790delinsCA |
p.R597Q |
Missense |
9/15 |
- |
1 |
10-129910578-AC-TT |
c.1787_1788delinsAA |
p.R596Q |
Missense |
9/15 |
- |
1 |
10-129910579-C-A |
c.1787G>T |
p.R596L |
Missense |
9/15 |
- |
1 |
10-129910579-C-T |
c.1787G>A |
p.R596H |
Missense |
9/15 |
- |
1 |
10-129910580-G-A |
c.1786C>T |
p.R596C |
Missense |
9/15 |
- |
3 |
10-129910582-C-T |
c.1784G>A |
p.R595H |
Missense |
9/15 |
- |
2 |
10-129910585-T-C |
c.1781A>G |
p.Q594R |
Missense |
9/15 |
- |
1 |
10-129910588-T-C |
c.1778A>G |
p.D593G |
Missense |
9/15 |
- |
1 |
10-129910591-CT-AA |
c.1774_1775delinsTT |
p.S592F |
Missense |
9/15 |
- |
1 |
10-129910592-T-C |
c.1774A>G |
p.S592G |
Missense |
9/15 |
- |
1 |
10-129910593-G-A |
c.1773C>T |
p.A591= |
Synonymous |
9/15 |
- |
1 |
10-129910593-G-C |
c.1773C>G |
p.A591= |
Synonymous |
9/15 |
- |
1 |
10-129910593-G-T |
c.1773C>A |
p.A591= |
Synonymous |
9/15 |
- |
1 |
10-129910601-G-A |
c.1765C>T |
p.P589S |
Missense |
9/15 |
- |
1 |
10-129910602-AG-CA |
c.1763_1764delinsTG |
p.T588M |
Missense |
9/15 |
- |
1 |
10-129910612-G-A |
c.1754C>T |
p.P585L |
Missense |
9/15 |
- |
1 |
10-129910613-G-T |
c.1753C>A |
p.P585T |
Missense |
9/15 |
- |
1 |
10-129910614-ACT-TCA |
c.1750_1752delinsTGA |
p.S584* |
Nonsense |
9/15 |
- |
1 |
10-129910614-A-G |
c.1752T>C |
p.S584= |
Synonymous |
9/15 |
- |
1 |
10-129910613-GACT-G |
c.1750_1752del |
p.S584del |
InFrameDeletion |
9/15 |
- |
1 |
10-129910621-G-A |
c.1745C>T |
p.A582V |
Missense |
9/15 |
- |
1 |
10-129910621-G-C |
c.1745C>G |
p.A582G |
Missense |
9/15 |
- |
1 |
10-129910622-C-T |
c.1744G>A |
p.A582T |
Missense |
9/15 |
- |
2 |
10-129910634-T-C |
c.1732A>G |
p.I578V |
Missense |
9/15 |
- |
1 |
10-129910637-C-T |
c.1729G>A |
p.V577I |
Missense |
9/15 |
- |
1 |
10-129910639-AA-GG |
c.1726_1727delinsCC |
p.L576P |
Missense |
9/15 |
- |
4 |
10-129910645-T-G |
c.1721A>C |
p.Q574P |
Missense |
9/15 |
- |
1 |
10-129910647-TG-GT |
c.1718_1719delinsAC |
p.A573D |
Missense |
9/15 |
- |
1 |
10-129910648-G-A |
c.1718C>T |
p.A573V |
Missense |
9/15 |
- |
1 |
10-129910655-C-T |
c.1711G>A |
p.V571M |
Missense |
9/15 |
- |
1 |
10-129910658-C-G |
c.1708G>C |
p.E570Q |
Missense |
9/15 |
- |
1 |
10-129910658-C-T |
c.1708G>A |
p.E570K |
Missense |
9/15 |
- |
1 |
10-129910659-CAC-GAT |
c.1705_1707delinsATC |
p.V569I |
Missense |
9/15 |
- |
1 |
10-129910660-A-G |
c.1706T>C |
p.V569A |
Missense |
9/15 |
- |
1 |
10-129910661-C-A |
c.1705G>T |
p.V569L |
Missense |
9/15 |
- |
1 |
10-129910661-C-G |
c.1705G>C |
p.V569L |
Missense |
9/15 |
- |
1 |
10-129910668-TTTCTGAACCTGACTCTTGTTTTCCTGATGGTTGAGGCTGTTCCTGACAAGACAAAATTG-T |
c.1657-17_1698del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
9/15 |
8/14 |
1 |
10-129910672-GA-CC |
c.1693_1694delinsGG |
p.S565G |
Missense |
9/15 |
- |
1 |
10-129910676-C-G |
c.1690G>C |
p.G564R |
Missense |
9/15 |
- |
1 |
10-129910677-T-G |
c.1689A>C |
p.S563= |
Synonymous |
9/15 |
- |
1 |
10-129910677-TG-AC |
c.1688_1689delinsGT |
p.S563C |
Missense |
9/15 |
- |
1 |
10-129910680-C-A |
c.1686G>T |
p.E562D |
Missense |
9/15 |
- |
1 |
10-129910685-G-A |
c.1681C>T |
p.Q561* |
Nonsense |
9/15 |
- |
1 |
10-129910685-TG-T |
c.1681del |
p.Q561Kfs*11 |
Frameshift |
9/15 |
- |
1 |
10-129910688-T-A |
c.1678A>T |
p.K560* |
Nonsense |
9/15 |
- |
1 |
10-129910688-T-C |
c.1678A>G |
p.K560E |
Missense |
9/15 |
- |
1 |
10-129910689-TCC-ACA |
c.1675_1677delinsTGT |
p.G559C |
Missense |
9/15 |
- |
1 |
10-129910691-C-A |
c.1675G>T |
p.G559* |
Nonsense |
9/15 |
- |
1 |
10-129910695-T-A |
c.1671A>T |
p.P557= |
Synonymous |
9/15 |
- |
1 |
10-129910695-T-C |
c.1671A>G |
p.P557= |
Synonymous |
9/15 |
- |
1 |
10-129910695-T-G |
c.1671A>C |
p.P557= |
Synonymous |
9/15 |
- |
1 |
10-129910696-G-A |
c.1670C>T |
p.P557L |
Missense |
9/15 |
- |
2 |
10-129910696-GGTT-G |
c.1667_1669del |
p.Q556del |
InFrameDeletion |
9/15 |
- |
1 |
10-129910698-T-A |
c.1668A>T |
p.Q556H |
Missense |
9/15 |
- |
1 |
10-129910698-T-G |
c.1668A>C |
p.Q556H |
Missense |
9/15 |
- |
1 |
10-129910699-T-TG |
c.1666dup |
p.Q556Pfs*29 |
Frameshift |
9/15 |
- |
1 |
10-129910702-G-A |
c.1664C>T |
p.P555L |
Missense |
9/15 |
- |
1 |
10-129910706-G-A |
c.1660C>T |
p.Q554* |
Nonsense |
9/15 |
- |
2 |
10-129911474-C-T |
c.1656+217G>A |
- |
IntronicSNV |
- |
8/14 |
1 |
10-129911690-C-A |
c.1656+1G>T |
- |
IntronicSNV |
- |
8/14 |
1 |
10-129911694-G-A |
c.1653C>T |
p.I551= |
Synonymous |
8/15 |
- |
1 |
10-129911694-G-T |
c.1653C>A |
p.I551= |
Synonymous |
8/15 |
- |
1 |
10-129911697-G-A |
c.1650C>T |
p.I550= |
Synonymous |
8/15 |
- |
4 |
10-129911699-T-C |
c.1648A>G |
p.I550V |
Missense |
8/15 |
- |
1 |
10-129911700-T-C |
c.1647A>G |
p.K549= |
Synonymous |
8/15 |
- |
1 |
10-129911706-C-G |
c.1641G>C |
p.L547= |
Synonymous |
8/15 |
- |
1 |
10-129911716-G-A |
c.1631C>T |
p.P544L |
Missense |
8/15 |
- |
4 |
10-129911718-A-C |
c.1629T>G |
p.T543= |
Synonymous |
8/15 |
- |
1 |
10-129911718-A-G |
c.1629T>C |
p.T543= |
Synonymous |
8/15 |
- |
4 |
10-129911718-A-T |
c.1629T>A |
p.T543= |
Synonymous |
8/15 |
- |
1 |
10-129911719-G-C |
c.1628C>G |
p.T543S |
Missense |
8/15 |
- |
1 |
10-129911720-T-G |
c.1627A>C |
p.T543P |
Missense |
8/15 |
- |
1 |
10-129911723-G-A |
c.1624C>T |
p.H542Y |
Missense |
8/15 |
- |
2 |
10-129911724-C-A |
c.1623G>T |
p.M541I |
Missense |
8/15 |
- |
1 |
10-129911724-C-G |
c.1623G>C |
p.M541I |
Missense |
8/15 |
- |
1 |
10-129911724-C-T |
c.1623G>A |
p.M541I |
Missense |
8/15 |
- |
1 |
10-129911725-A-G |
c.1622T>C |
p.M541T |
Missense |
8/15 |
- |
1 |
10-129911726-T-C |
c.1621A>G |
p.M541V |
Missense |
8/15 |
- |
1 |
10-129911729-C-A |
c.1618G>T |
p.V540L |
Missense |
8/15 |
- |
1 |
10-129911729-C-G |
c.1618G>C |
p.V540L |
Missense |
8/15 |
- |
1 |
10-129911729-C-T |
c.1618G>A |
p.V540I |
Missense |
8/15 |
- |
1 |
10-129911732-G-C |
c.1615C>G |
p.L539V |
Missense |
8/15 |
- |
1 |
10-129911733-A-C |
c.1614T>G |
p.S538= |
Synonymous |
8/15 |
- |
1 |
10-129911733-A-G |
c.1614T>C |
p.S538= |
Synonymous |
8/15 |
- |
1 |
10-129911733-A-T |
c.1614T>A |
p.S538= |
Synonymous |
8/15 |
- |
1 |
10-129911737-T-C |
c.1610A>G |
p.K537R |
Missense |
8/15 |
- |
2 |
10-129911743-T-C |
c.1604A>G |
p.K535R |
Missense |
8/15 |
- |
1 |
10-129911744-T-C |
c.1603A>G |
p.K535E |
Missense |
8/15 |
- |
1 |
10-129911746-G-T |
c.1601C>A |
p.T534N |
Missense |
8/15 |
- |
1 |
10-129911747-T-A |
c.1600A>T |
p.T534S |
Missense |
8/15 |
- |
1 |
10-129911747-T-C |
c.1600A>G |
p.T534A |
Missense |
8/15 |
- |
1 |
10-129911749-G-A |
c.1598C>T |
p.P533L |
Missense |
8/15 |
- |
1 |
10-129911752-G-A |
c.1595C>T |
p.A532V |
Missense |
8/15 |
- |
1 |
10-129911753-C-A |
c.1594G>T |
p.A532S |
Missense |
8/15 |
- |
2 |
10-129911756-C-A |
c.1591G>T |
p.E531* |
Nonsense |
8/15 |
- |
1 |
10-129911756-C-T |
c.1591G>A |
p.E531K |
Missense |
8/15 |
- |
2 |
10-129911758-C-A |
c.1589G>T |
p.G530V |
Missense |
8/15 |
- |
6 |
10-129911758-C-T |
c.1589G>A |
p.G530E |
Missense |
8/15 |
- |
1 |
10-129911760-C-A |
c.1587G>T |
p.R529S |
Missense |
8/15 |
- |
1 |
10-129911760-C-G |
c.1587G>C |
p.R529S |
Missense |
8/15 |
- |
1 |
10-129911766-G-A |
c.1581C>T |
p.L527= |
Synonymous |
8/15 |
- |
2 |
10-129911766-G-C |
c.1581C>G |
p.L527= |
Synonymous |
8/15 |
- |
2 |
10-129911766-G-T |
c.1581C>A |
p.L527= |
Synonymous |
8/15 |
- |
2 |
10-129911768-G-A |
c.1579C>T |
p.L527F |
Missense |
8/15 |
- |
1 |
10-129911768-G-C |
c.1579C>G |
p.L527V |
Missense |
8/15 |
- |
1 |
10-129911770-G-A |
c.1577C>T |
p.P526L |
Missense |
8/15 |
- |
1 |
10-129911771-G-A |
c.1576C>T |
p.P526S |
Missense |
8/15 |
- |
1 |
10-129911771-G-C |
c.1576C>G |
p.P526A |
Missense |
8/15 |
- |
2 |
10-129911772-C-A |
c.1575G>T |
p.T525= |
Synonymous |
8/15 |
- |
2 |
10-129911772-C-G |
c.1575G>C |
p.T525= |
Synonymous |
8/15 |
- |
2 |
10-129911772-C-T |
c.1575G>A |
p.T525= |
Synonymous |
8/15 |
- |
2 |
10-129911772-GC-G |
c.1575del |
p.P526Lfs*15 |
Frameshift |
8/15 |
- |
2 |
10-129911773-G-A |
c.1574C>T |
p.T525M |
Missense |
8/15 |
- |
4 |
10-129911773-G-C |
c.1574C>G |
p.T525R |
Missense |
8/15 |
- |
1 |
10-129911780-G-C |
c.1567C>G |
p.P523A |
Missense |
8/15 |
- |
3 |
10-129911780-G-T |
c.1567C>A |
p.P523T |
Missense |
8/15 |
- |
2 |
10-129911781-AGG-CTC |
c.1564_1566delinsGAG |
p.P522E |
Missense |
8/15 |
- |
1 |
10-129911782-G-A |
c.1565C>T |
p.P522L |
Missense |
8/15 |
- |
1 |
10-129911782-GG-AT |
c.1564_1565delinsAT |
p.P522I |
Missense |
8/15 |
- |
1 |
10-129911782-G-T |
c.1565C>A |
p.P522H |
Missense |
8/15 |
- |
1 |
10-129911785-AA-GG |
c.1561_1562delinsCC |
p.L521P |
Missense |
8/15 |
- |
1 |
10-129911788-T-A |
c.1559A>T |
p.N520I |
Missense |
8/15 |
- |
1 |
10-129911791-T-C |
c.1556A>G |
p.E519G |
Missense |
8/15 |
- |
1 |
10-129911792-C-A |
c.1555G>T |
p.E519* |
Nonsense |
8/15 |
- |
1 |
10-129911792-C-T |
c.1555G>A |
p.E519K |
Missense |
8/15 |
- |
1 |
10-129911793-A-C |
c.1554T>G |
p.D518E |
Missense |
8/15 |
- |
1 |
10-129911793-A-G |
c.1554T>C |
p.D518= |
Synonymous |
8/15 |
- |
1 |
10-129911793-A-T |
c.1554T>A |
p.D518E |
Missense |
8/15 |
- |
1 |
10-129911795-C-G |
c.1552G>C |
p.D518H |
Missense |
8/15 |
- |
4 |
10-129911795-C-T |
c.1552G>A |
p.D518N |
Missense |
8/15 |
- |
1 |
10-129911799-T-A |
c.1548A>T |
p.L516= |
Synonymous |
8/15 |
- |
1 |
10-129911799-T-C |
c.1548A>G |
p.L516= |
Synonymous |
8/15 |
- |
1 |
10-129911799-T-G |
c.1548A>C |
p.L516= |
Synonymous |
8/15 |
- |
1 |
10-129911801-G-A |
c.1546C>T |
p.L516= |
Synonymous |
8/15 |
- |
2 |
10-129911804-C-G |
c.1543G>C |
p.E515Q |
Missense |
8/15 |
- |
1 |
10-129911804-C-T |
c.1543G>A |
p.E515K |
Missense |
8/15 |
- |
1 |
10-129911806-G-A |
c.1541C>T |
p.P514L |
Missense |
8/15 |
- |
1 |
10-129911807-G-A |
c.1540C>T |
p.P514S |
Missense |
8/15 |
- |
1 |
10-129911810-T-C |
c.1537A>G |
p.R513G |
Missense |
8/15 |
- |
1 |
10-129911813-G-C |
c.1534C>G |
p.L512V |
Missense |
8/15 |
- |
1 |
10-129911818-C-A |
c.1529G>T |
p.G510V |
Missense |
8/15 |
- |
1 |
10-129911818-C-T |
c.1529G>A |
p.G510E |
Missense |
8/15 |
- |
1 |
10-129911819-C-T |
c.1528G>A |
p.G510R |
Missense |
8/15 |
- |
1 |
10-129911820-A-C |
c.1527T>G |
p.G509= |
Synonymous |
8/15 |
- |
1 |
10-129911820-A-G |
c.1527T>C |
p.G509= |
Synonymous |
8/15 |
- |
1 |
10-129911820-A-T |
c.1527T>A |
p.G509= |
Synonymous |
8/15 |
- |
1 |
10-129911821-C-G |
c.1526G>C |
p.G509A |
Missense |
8/15 |
- |
1 |
10-129911821-C-T |
c.1526G>A |
p.G509D |
Missense |
8/15 |
- |
1 |
10-129911822-C-T |
c.1525G>A |
p.G509S |
Missense |
8/15 |
- |
1 |
10-129911823-CAAA-C |
c.1522_1524del |
p.F508del |
InFrameDeletion |
8/15 |
- |
2 |
10-129911826-G-A |
c.1521C>T |
p.S507= |
Synonymous |
8/15 |
- |
2 |
10-129911826-G-C |
c.1521C>G |
p.S507= |
Synonymous |
8/15 |
- |
1 |
10-129911826-G-T |
c.1521C>A |
p.S507= |
Synonymous |
8/15 |
- |
1 |
10-129911827-G-A |
c.1520C>T |
p.S507F |
Missense |
8/15 |
- |
5 |
10-129911827-GA-TC |
c.1519_1520inv |
p.S507D |
Missense |
8/15 |
- |
1 |
10-129911829-C-A |
c.1518G>T |
p.V506= |
Synonymous |
8/15 |
- |
1 |
10-129911829-CAC-GAT |
c.1516_1518delinsATC |
p.V506I |
Missense |
8/15 |
- |
1 |
10-129911829-C-G |
c.1518G>C |
p.V506= |
Synonymous |
8/15 |
- |
1 |
10-129911829-C-T |
c.1518G>A |
p.V506= |
Synonymous |
8/15 |
- |
1 |
10-129911831-C-T |
c.1516G>A |
p.V506M |
Missense |
8/15 |
- |
1 |
10-129911833-C-T |
c.1514G>A |
p.R505H |
Missense |
8/15 |
- |
5 |
10-129911834-G-A |
c.1513C>T |
p.R505C |
Missense |
8/15 |
- |
5 |
10-129911834-G-C |
c.1513C>G |
p.R505G |
Missense |
8/15 |
- |
1 |
10-129911838-TCT-CCA |
c.1507_1509delinsTGG |
p.R503W |
Missense |
8/15 |
- |
1 |
10-129911839-C-G |
c.1508G>C |
p.R503T |
Missense |
8/15 |
- |
1 |
10-129911842-T-C |
c.1505A>G |
p.K502R |
Missense |
8/15 |
- |
1 |
10-129911844-C-T |
c.1503G>A |
p.L501= |
Synonymous |
8/15 |
- |
1 |
10-129911851-A-G |
c.1496T>C |
p.I499T |
Missense |
8/15 |
- |
1 |
10-129911856-C-A |
c.1491G>T |
p.E497D |
Missense |
8/15 |
- |
21 |
10-129911856-C-G |
c.1491G>C |
p.E497D |
Missense |
8/15 |
- |
23 |
10-129911856-C-T |
c.1491G>A |
p.E497= |
Synonymous |
8/15 |
- |
1 |
10-129911858-C-T |
c.1489G>A |
p.E497K |
Missense |
8/15 |
- |
1 |
10-129911859-A-C |
c.1488T>G |
p.S496R |
Missense |
8/15 |
- |
2 |
10-129911859-A-T |
c.1488T>A |
p.S496R |
Missense |
8/15 |
- |
2 |
10-129911861-T-G |
c.1486A>C |
p.S496R |
Missense |
8/15 |
- |
2 |
10-129911860-CT-AA |
c.1486_1487delinsTT |
p.S496F |
Missense |
8/15 |
- |
2 |
10-129911860-CT-GG |
c.1486_1487delinsCC |
p.S496P |
Missense |
8/15 |
- |
1 |
10-129911860-C-CT |
c.1486dup |
p.S496Kfs*2 |
Frameshift |
8/15 |
- |
1 |
10-129911865-A-AT |
c.1481dup |
p.N494Kfs*2 |
SpliceAcceptorInsertion |
- |
- |
1 |
10-129911919-T-A |
c.1481-53A>T |
- |
IntronicSNV |
- |
7/14 |
5 |
10-129913192-T-A |
c.1480A>T |
p.N494Y |
Missense |
7/15 |
- |
1 |
10-129913192-TAATGGAATCACCAAAGTTGTTGATATCAACTGA-T |
c.1447_1479del |
p.S483_I493del |
InFrameDeletion |
7/15 |
- |
1 |
10-129913194-A-AT |
c.1477dup |
p.I493Nfs*2 |
Frameshift |
7/15 |
- |
1 |
10-129913198-A-G |
c.1474T>C |
p.S492P |
Missense |
7/15 |
- |
1 |
10-129913198-A-T |
c.1474T>A |
p.S492T |
Missense |
7/15 |
- |
1 |
10-129913204-CAA-C |
c.1466_1467del |
p.F489Wfs*2 |
Frameshift |
7/15 |
- |
1 |
10-129913207-A-T |
c.1465T>A |
p.F489I |
Missense |
7/15 |
- |
1 |
10-129913208-G-C |
c.1464C>G |
p.N488K |
Missense |
7/15 |
- |
1 |
10-129913208-G-T |
c.1464C>A |
p.N488K |
Missense |
7/15 |
- |
1 |
10-129913212-T-C |
c.1460A>G |
p.N487S |
Missense |
7/15 |
- |
1 |
10-129913218-T-C |
c.1454A>G |
p.D485G |
Missense |
7/15 |
- |
1 |
10-129913219-TCA-T |
c.1452_1453del |
p.D485Yfs*6 |
Frameshift |
7/15 |
- |
1 |
10-129913224-G-C |
c.1448C>G |
p.S483* |
Nonsense |
7/15 |
- |
2 |
10-129913224-G-T |
c.1448C>A |
p.S483* |
Nonsense |
7/15 |
- |
1 |
10-129913225-AACTAAG-A |
c.1441_1446del |
p.L481_S482del |
InFrameDeletion |
7/15 |
- |
1 |
10-129913228-T-A |
c.1444A>T |
p.S482C |
Missense |
7/15 |
- |
1 |
10-129913230-A-G |
c.1442T>C |
p.L481P |
Missense |
7/15 |
- |
1 |
10-129913232-ACC-CCA |
c.1438_1440delinsTGG |
p.G480W |
Missense |
7/15 |
- |
1 |
10-129913233-C-A |
c.1439G>T |
p.G480V |
Missense |
7/15 |
- |
1 |
10-129913233-C-T |
c.1439G>A |
p.G480D |
Missense |
7/15 |
- |
1 |
10-129913236-G-C |
c.1436C>G |
p.P479R |
Missense |
7/15 |
- |
1 |
10-129913237-G-A |
c.1435C>T |
p.P479S |
Missense |
7/15 |
- |
1 |
10-129913242-C-G |
c.1430G>C |
p.G477A |
Missense |
7/15 |
- |
1 |
10-129913243-C-A |
c.1429G>T |
p.G477W |
Missense |
7/15 |
- |
1 |
10-129913245-G-C |
c.1427C>G |
p.S476C |
Missense |
7/15 |
- |
8 |
10-129913246-A-T |
c.1426T>A |
p.S476T |
Missense |
7/15 |
- |
1 |
10-129913247-GCA-CTC |
c.1423_1425delinsGAG |
p.C475E |
Missense |
7/15 |
- |
1 |
10-129913249-A-G |
c.1423T>C |
p.C475R |
Missense |
7/15 |
- |
1 |
10-129913250-C-A |
c.1422G>T |
p.M474I |
Missense |
7/15 |
- |
3 |
10-129913250-C-G |
c.1422G>C |
p.M474I |
Missense |
7/15 |
- |
3 |
10-129913250-C-T |
c.1422G>A |
p.M474I |
Missense |
7/15 |
- |
3 |
10-129913257-C-A |
c.1415G>T |
p.G472V |
Missense |
7/15 |
- |
1 |
10-129913257-C-G |
c.1415G>C |
p.G472A |
Missense |
7/15 |
- |
1 |
10-129913260-G-A |
c.1412C>T |
p.A471V |
Missense |
7/15 |
- |
1 |
10-129913261-C-A |
c.1411G>T |
p.A471S |
Missense |
7/15 |
- |
1 |
10-129913262-CTGT-C |
c.1408_1410del |
p.T470del |
InFrameDeletion |
7/15 |
- |
1 |
10-129913264-T-C |
c.1408A>G |
p.T470A |
Missense |
7/15 |
- |
1 |
10-129913267-T-C |
c.1405A>G |
p.T469A |
Missense |
7/15 |
- |
2 |
10-129913269-C-G |
c.1403G>C |
p.G468A |
Missense |
7/15 |
- |
2 |
10-129913269-C-T |
c.1403G>A |
p.G468D |
Missense |
7/15 |
- |
2 |
10-129913270-C-G |
c.1402G>C |
p.G468R |
Missense |
7/15 |
- |
1 |
10-129913274-T-A |
c.1398A>T |
p.K466N |
Missense |
7/15 |
- |
4 |
10-129913274-T-G |
c.1398A>C |
p.K466N |
Missense |
7/15 |
- |
6 |
10-129913275-T-G |
c.1397A>C |
p.K466T |
Missense |
7/15 |
- |
1 |
10-129913277-C-A |
c.1395G>T |
p.E465D |
Missense |
7/15 |
- |
1 |
10-129913277-C-G |
c.1395G>C |
p.E465D |
Missense |
7/15 |
- |
1 |
10-129913277-C-T |
c.1395G>A |
p.E465= |
Synonymous |
7/15 |
- |
1 |
10-129913282-G-A |
c.1390C>T |
p.P464S |
Missense |
7/15 |
- |
1 |
10-129913289-G-A |
c.1383C>T |
p.L461= |
Synonymous |
7/15 |
- |
1 |
10-129913293-G-A |
c.1379C>T |
p.S460F |
Missense |
7/15 |
- |
3 |
10-129913298-C-A |
c.1374G>T |
p.K458N |
Missense |
7/15 |
- |
1 |
10-129913298-C-G |
c.1374G>C |
p.K458N |
Missense |
7/15 |
- |
1 |
10-129913299-T-C |
c.1373A>G |
p.K458R |
Missense |
7/15 |
- |
1 |
10-129913300-T-G |
c.1372A>C |
p.K458Q |
Missense |
7/15 |
- |
1 |
10-129913308-CTTCCTCTCAACTT-C |
c.1352_1364del |
p.Q451Rfs*47 |
Frameshift |
7/15 |
- |
1 |
10-129913313-C-A |
c.1359G>T |
p.E453D |
Missense |
7/15 |
- |
1 |
10-129913313-C-G |
c.1359G>C |
p.E453D |
Missense |
7/15 |
- |
1 |
10-129913315-C-G |
c.1357G>C |
p.E453Q |
Missense |
7/15 |
- |
2 |
10-129913315-C-T |
c.1357G>A |
p.E453K |
Missense |
7/15 |
- |
1 |
10-129913322-A-C |
c.1350T>G |
p.T450= |
Synonymous |
7/15 |
- |
1 |
10-129913322-A-G |
c.1350T>C |
p.T450= |
Synonymous |
7/15 |
- |
1 |
10-129913322-A-T |
c.1350T>A |
p.T450= |
Synonymous |
7/15 |
- |
1 |
10-129913323-G-A |
c.1349C>T |
p.T450I |
Missense |
7/15 |
- |
1 |
10-129913330-A-T |
c.1342T>A |
p.W448R |
Missense |
7/15 |
- |
1 |
10-129913333-AGAGTTAAAAATGGCTC-A |
c.1324_1339del |
p.E442Cfs*55 |
Frameshift |
7/15 |
- |
1 |
10-129913333-G-A |
c.1339C>T |
p.L447= |
Synonymous |
7/15 |
- |
1 |
10-129913333-G-C |
c.1339C>G |
p.L447V |
Missense |
7/15 |
- |
1 |
10-129913336-T-G |
c.1336A>C |
p.T446P |
Missense |
7/15 |
- |
1 |
10-129913342-A-C |
c.1330T>G |
p.F444V |
Missense |
7/15 |
- |
5 |
10-129913348-C-A |
c.1324G>T |
p.E442* |
Nonsense |
7/15 |
- |
1 |
10-129913348-C-G |
c.1324G>C |
p.E442Q |
Missense |
7/15 |
- |
1 |
10-129913348-C-T |
c.1324G>A |
p.E442K |
Missense |
7/15 |
- |
1 |
10-129913349-A-C |
c.1323T>G |
p.N441K |
Missense |
7/15 |
- |
1 |
10-129913349-A-G |
c.1323T>C |
p.N441= |
Synonymous |
7/15 |
- |
2 |
10-129913349-A-T |
c.1323T>A |
p.N441K |
Missense |
7/15 |
- |
1 |
10-129913349-ATT-TTG |
c.1321_1323delinsCAA |
p.N441Q |
Missense |
7/15 |
- |
1 |
10-129913356-A-C |
c.1316T>G |
p.I439S |
Missense |
7/15 |
- |
1 |
10-129913358-T-A |
c.1314A>T |
p.E438D |
Missense |
7/15 |
- |
1 |
10-129913358-T-G |
c.1314A>C |
p.E438D |
Missense |
7/15 |
- |
1 |
10-129913362-GT-CA |
c.1309_1310delinsTG |
p.T437C |
Missense |
7/15 |
- |
1 |
10-129913366-C-T |
c.1306G>A |
p.E436K |
Missense |
7/15 |
- |
1 |
10-129913367-C-G |
c.1305G>C |
p.T435= |
Synonymous |
7/15 |
- |
1 |
10-129913368-G-A |
c.1304C>T |
p.T435M |
Missense |
7/15 |
- |
2 |
10-129913370-AG-A |
c.1301del |
p.P434Lfs*12 |
Frameshift |
7/15 |
- |
1 |
10-129913373-CAG-GTC |
c.1297_1299delinsGAC |
p.L433D |
Missense |
7/15 |
- |
1 |
10-129913376-A-C |
c.1296T>G |
p.V432= |
Synonymous |
7/15 |
- |
1 |
10-129913376-A-G |
c.1296T>C |
p.V432= |
Synonymous |
7/15 |
- |
2 |
10-129913376-A-T |
c.1296T>A |
p.V432= |
Synonymous |
7/15 |
- |
1 |
10-129913377-A-C |
c.1295T>G |
p.V432G |
Missense |
7/15 |
- |
1 |
10-129913378-C-G |
c.1294G>C |
p.V432L |
Missense |
7/15 |
- |
1 |
10-129913383-A-G |
c.1289T>C |
p.V430A |
Missense |
7/15 |
- |
1 |
10-129913385-A-C |
c.1287T>G |
p.D429E |
Missense |
7/15 |
- |
1 |
10-129913384-CATCTGT-C |
c.1282_1287del |
p.T428_D429del |
InFrameDeletion |
7/15 |
- |
1 |
10-129913386-T-C |
c.1286A>G |
p.D429G |
Missense |
7/15 |
- |
1 |
10-129913387-C-T |
c.1285G>A |
p.D429N |
Missense |
7/15 |
- |
2 |
10-129913388-TG-CA |
c.1283_1284inv |
p.T428M |
Missense |
7/15 |
- |
1 |
10-129913391-A-C |
c.1281T>G |
p.P427= |
Synonymous |
7/15 |
- |
1 |
10-129913391-A-G |
c.1281T>C |
p.P427= |
Synonymous |
7/15 |
- |
1 |
10-129913391-A-T |
c.1281T>A |
p.P427= |
Synonymous |
7/15 |
- |
1 |
10-129913392-G-A |
c.1280C>T |
p.P427L |
Missense |
7/15 |
- |
2 |
10-129913393-G-A |
c.1279C>T |
p.P427S |
Missense |
7/15 |
- |
1 |
10-129913397-ACT-TCA |
c.1273_1275delinsTGA |
p.S425* |
Nonsense |
7/15 |
- |
1 |
10-129913399-T-A |
c.1273A>T |
p.S425C |
Missense |
7/15 |
- |
1 |
10-129913401-C-A |
c.1271G>T |
p.G424V |
Missense |
7/15 |
- |
2 |
10-129913401-C-G |
c.1271G>C |
p.G424A |
Missense |
7/15 |
- |
2 |
10-129913402-C-A |
c.1270G>T |
p.G424* |
Nonsense |
7/15 |
- |
2 |
10-129913402-C-T |
c.1270G>A |
p.G424R |
Missense |
7/15 |
- |
1 |
10-129913404-C-A |
c.1268G>T |
p.R423I |
Missense |
7/15 |
- |
2 |
10-129913404-C-T |
c.1268G>A |
p.R423K |
Missense |
7/15 |
- |
2 |
10-129913404-CT-GC |
c.1267_1268delinsGC |
p.R423A |
Missense |
7/15 |
- |
1 |
10-129913404-CT-TG |
c.1267_1268delinsCA |
p.R423Q |
Missense |
7/15 |
- |
1 |
10-129913413-G-A |
c.1259C>T |
p.S420F |
Missense |
7/15 |
- |
2 |
10-129913415-A-C |
c.1257T>G |
p.S419= |
Synonymous |
7/15 |
- |
1 |
10-129913415-A-G |
c.1257T>C |
p.S419= |
Synonymous |
7/15 |
- |
1 |
10-129913415-A-T |
c.1257T>A |
p.S419= |
Synonymous |
7/15 |
- |
1 |
10-129913416-G-A |
c.1256C>T |
p.S419F |
Missense |
7/15 |
- |
1 |
10-129913420-G-C |
c.1252C>G |
p.L418V |
Missense |
7/15 |
- |
2 |
10-129913421-A-G |
c.1251T>C |
p.N417= |
Synonymous |
7/15 |
- |
1 |
10-129913421-GA-G |
c.1251del |
p.L418Sfs*28 |
Frameshift |
7/15 |
- |
1 |
10-129913427-T-C |
c.1245A>G |
p.P415= |
Synonymous |
7/15 |
- |
2 |
10-129913428-G-A |
c.1244C>T |
p.P415L |
Missense |
7/15 |
- |
1 |
10-129913430-C-A |
c.1242G>T |
p.K414N |
Missense |
7/15 |
- |
1 |
10-129913430-C-G |
c.1242G>C |
p.K414N |
Missense |
7/15 |
- |
1 |
10-129913433-A-C |
c.1239T>G |
p.T413= |
Synonymous |
7/15 |
- |
2 |
10-129913433-A-G |
c.1239T>C |
p.T413= |
Synonymous |
7/15 |
- |
1 |
10-129913433-A-T |
c.1239T>A |
p.T413= |
Synonymous |
7/15 |
- |
1 |
10-129913434-G-A |
c.1238C>T |
p.T413I |
Missense |
7/15 |
- |
1 |
10-129913438-C-G |
c.1234G>C |
p.A412P |
Missense |
7/15 |
- |
1 |
10-129913438-C-T |
c.1234G>A |
p.A412T |
Missense |
7/15 |
- |
1 |
10-129913440-G-A |
c.1232C>T |
p.S411F |
Missense |
7/15 |
- |
1 |
10-129913440-G-T |
c.1232C>A |
p.S411Y |
Missense |
7/15 |
- |
1 |
10-129913443-T-C |
c.1229A>G |
p.D410G |
UnclassifiedSNV |
7/15 |
- |
4 |
10-129913444-C-T |
c.1228G>A |
p.D410N |
Missense |
7/15 |
- |
3 |
10-129913446-G-A |
c.1226C>T |
p.A409V |
Missense |
7/15 |
- |
1 |
10-129913450-C-T |
c.1222G>A |
p.A408T |
Missense |
7/15 |
- |
3 |
10-129913453-C-G |
c.1219G>C |
p.D407H |
Missense |
7/15 |
- |
1 |
10-129913456-C-T |
c.1216G>A |
p.E406K |
Missense |
7/15 |
- |
2 |
10-129913455-TCAA-T |
c.1214_1216del |
p.V405del |
InFrameDeletion |
7/15 |
- |
1 |
10-129913457-AAC-CAT |
c.1213_1215delinsATG |
p.V405M |
Missense |
7/15 |
- |
1 |
10-129913458-A-G |
c.1214T>C |
p.V405A |
Missense |
7/15 |
- |
1 |
10-129913464-G-A |
c.1208C>T |
p.A403V |
Missense |
7/15 |
- |
3 |
10-129913465-C-G |
c.1207G>C |
p.A403P |
UnclassifiedSNV |
7/15 |
- |
2 |
10-129913467-G-T |
c.1205C>A |
p.P402Q |
Missense |
7/15 |
- |
1 |
10-129913468-G-C |
c.1204C>G |
p.P402A |
Missense |
7/15 |
- |
7 |
10-129913473-C-T |
c.1199G>A |
p.R400Q |
Missense |
7/15 |
- |
2 |
10-129913474-G-A |
c.1198C>T |
p.R400* |
Nonsense |
7/15 |
- |
3 |
10-129913478-TCT-CCA |
c.1192_1194delinsTGG |
p.R398W |
Missense |
7/15 |
- |
1 |
10-129913479-C-T |
c.1193G>A |
p.R398K |
Missense |
7/15 |
- |
1 |
10-129913479-CT-GC |
c.1192_1193delinsGC |
p.R398A |
Missense |
7/15 |
- |
1 |
10-129913482-G-A |
c.1190C>T |
p.T397I |
Missense |
7/15 |
- |
1 |
10-129913484-TG-AA |
c.1187_1188delinsTT |
p.S396F |
Missense |
7/15 |
- |
1 |
10-129913485-G-A |
c.1187C>T |
p.S396L |
Missense |
7/15 |
- |
1 |
10-129913489-G-C |
c.1183C>G |
p.L395V |
Missense |
7/15 |
- |
1 |
10-129913493-C-A |
c.1179G>T |
p.R393S |
Missense |
7/15 |
- |
1 |
10-129913493-CC-GA |
c.1178_1179delinsTC |
p.R393I |
Missense |
7/15 |
- |
2 |
10-129913494-C-A |
c.1178G>T |
p.R393M |
Missense |
7/15 |
- |
1 |
10-129913494-CT-TA |
c.1177_1178delinsTA |
p.R393* |
Nonsense |
7/15 |
- |
1 |
10-129913495-T-C |
c.1177A>G |
p.R393G |
Missense |
7/15 |
- |
5 |
10-129913497-G-A |
c.1175C>T |
p.P392L |
Missense |
7/15 |
- |
4 |
10-129913495-T-TG |
c.1176dup |
p.R393Qfs*6 |
Frameshift |
7/15 |
- |
1 |
10-129913498-G-A |
c.1174C>T |
p.P392S |
Missense |
7/15 |
- |
1 |
10-129913499-A-C |
c.1173T>G |
p.T391= |
Synonymous |
7/15 |
- |
1 |
10-129913499-A-G |
c.1173T>C |
p.T391= |
Synonymous |
7/15 |
- |
1 |
10-129913499-A-T |
c.1173T>A |
p.T391= |
Synonymous |
7/15 |
- |
1 |
10-129913500-G-A |
c.1172C>T |
p.T391I |
Missense |
7/15 |
- |
1 |
10-129913504-G-C |
c.1168C>G |
p.L390V |
Missense |
7/15 |
- |
1 |
10-129913504-G-T |
c.1168C>A |
p.L390I |
Missense |
7/15 |
- |
1 |
10-129913506-G-A |
c.1166C>T |
p.T389I |
Missense |
7/15 |
- |
1 |
10-129913506-G-T |
c.1166C>A |
p.T389N |
Missense |
7/15 |
- |
1 |
10-129913507-T-G |
c.1165A>C |
p.T389P |
Missense |
7/15 |
- |
1 |
10-129913509-T-C |
c.1163A>G |
p.K388R |
Missense |
7/15 |
- |
1 |
10-129913510-T-A |
c.1162A>T |
p.K388* |
Nonsense |
7/15 |
- |
1 |
10-129913511-A-G |
c.1161T>C |
p.D387= |
Synonymous |
7/15 |
- |
2 |
10-129913512-T-G |
c.1160A>C |
p.D387A |
Missense |
7/15 |
- |
1 |
10-129913513-C-T |
c.1159G>A |
p.D387N |
Missense |
7/15 |
- |
1 |
10-129913516-C-T |
c.1156G>A |
p.G386S |
Missense |
7/15 |
- |
1 |
10-129913518-G-A |
c.1154C>T |
p.A385V |
Missense |
7/15 |
- |
1 |
10-129913518-G-T |
c.1154C>A |
p.A385D |
Missense |
7/15 |
- |
1 |
10-129913519-C-T |
c.1153G>A |
p.A385T |
Missense |
7/15 |
- |
1 |
10-129913521-T-C |
c.1151A>G |
p.K384R |
Missense |
7/15 |
- |
1 |
10-129913527-C-T |
c.1145G>A |
p.G382D |
Missense |
7/15 |
- |
1 |
10-129913531-C-T |
c.1141G>A |
p.E381K |
Missense |
7/15 |
- |
1 |
10-129913533-C-T |
c.1139G>A |
p.S380N |
Missense |
7/15 |
- |
1 |
10-129913539-C-G |
c.1133G>C |
p.G378A |
Missense |
7/15 |
- |
1 |
10-129913540-C-A |
c.1132G>T |
p.G378C |
Missense |
7/15 |
- |
3 |
10-129913542-A-T |
c.1130T>A |
p.L377Q |
Missense |
7/15 |
- |
1 |
10-129913544-A-C |
c.1128T>G |
p.N376K |
Missense |
7/15 |
- |
1 |
10-129913549-C-T |
c.1123G>A |
p.V375M |
Missense |
7/15 |
- |
1 |
10-129913550-A-C |
c.1122T>G |
p.S374= |
Synonymous |
7/15 |
- |
1 |
10-129913550-A-G |
c.1122T>C |
p.S374= |
Synonymous |
7/15 |
- |
1 |
10-129913550-A-T |
c.1122T>A |
p.S374= |
Synonymous |
7/15 |
- |
2 |
10-129913551-G-T |
c.1121C>A |
p.S374Y |
Missense |
7/15 |
- |
1 |
10-129913555-C-T |
c.1117G>A |
p.E373K |
Missense |
7/15 |
- |
2 |
10-129913556-TCT-CCA |
c.1114_1116delinsTGG |
p.R372W |
Missense |
7/15 |
- |
1 |
10-129913557-C-G |
c.1115G>C |
p.R372T |
Missense |
7/15 |
- |
5 |
10-129913557-CT-AG |
c.1114_1115inv |
p.R372L |
Missense |
7/15 |
- |
1 |
10-129913558-T-A |
c.1114A>T |
p.R372* |
Nonsense |
7/15 |
- |
1 |
10-129913558-T-C |
c.1114A>G |
p.R372G |
Missense |
7/15 |
- |
5 |
10-129913559-TC-CA |
c.1112_1113delinsTG |
p.R371M |
Missense |
7/15 |
- |
1 |
10-129913559-TCT-ACA |
c.1111_1113delinsTGT |
p.R371C |
Missense |
7/15 |
- |
1 |
10-129913560-CT-AG |
c.1111_1112inv |
p.R371L |
Missense |
7/15 |
- |
1 |
10-129913561-T-A |
c.1111A>T |
p.R371* |
Nonsense |
7/15 |
- |
1 |
10-129913562-AC-CT |
c.1109_1110delinsAG |
p.G370E |
Missense |
7/15 |
- |
1 |
10-129913565-AG-CA |
c.1106_1107delinsTG |
p.T369M |
Missense |
7/15 |
- |
1 |
10-129913568-AG-CT |
c.1103_1104inv |
p.T368K |
Missense |
7/15 |
- |
1 |
10-129913571-A-G |
c.1101T>C |
p.Y367= |
Synonymous |
7/15 |
- |
5 |
10-129913572-T-C |
c.1100A>G |
p.Y367C |
Missense |
7/15 |
- |
2 |
10-129913577-G-T |
c.1095C>A |
p.D365E |
Missense |
7/15 |
- |
1 |
10-129913583-G-A |
c.1089C>T |
p.N363= |
Synonymous |
7/15 |
- |
1 |
10-129913583-G-C |
c.1089C>G |
p.N363K |
Missense |
7/15 |
- |
1 |
10-129913583-G-T |
c.1089C>A |
p.N363K |
Missense |
7/15 |
- |
1 |
10-129913584-T-C |
c.1088A>G |
p.N363S |
Missense |
7/15 |
- |
1 |
10-129913586-C-A |
c.1086G>T |
p.K362N |
Missense |
7/15 |
- |
1 |
10-129913586-C-G |
c.1086G>C |
p.K362N |
Missense |
7/15 |
- |
2 |
10-129913586-C-T |
c.1086G>A |
p.K362= |
Synonymous |
7/15 |
- |
3 |
10-129913587-TT-GC |
c.1084_1085delinsGC |
p.K362A |
Missense |
7/15 |
- |
1 |
10-129913590-T-A |
c.1082A>T |
p.H361L |
Missense |
7/15 |
- |
1 |
10-129913591-G-A |
c.1081C>T |
p.H361Y |
Missense |
7/15 |
- |
1 |
10-129913594-T-C |
c.1078A>G |
p.K360E |
Missense |
7/15 |
- |
1 |
10-129913600-G-A |
c.1072C>T |
p.P358S |
Missense |
7/15 |
- |
1 |
10-129913601-A-C |
c.1071T>G |
p.S357= |
Synonymous |
7/15 |
- |
1 |
10-129913601-A-G |
c.1071T>C |
p.S357= |
Synonymous |
7/15 |
- |
1 |
10-129913601-A-T |
c.1071T>A |
p.S357= |
Synonymous |
7/15 |
- |
1 |
10-129913602-G-C |
c.1070C>G |
p.S357C |
Missense |
7/15 |
- |
1 |
10-129913602-G-T |
c.1070C>A |
p.S357Y |
Missense |
7/15 |
- |
3 |
10-129913606-T-G |
c.1066A>C |
p.N356H |
Missense |
7/15 |
- |
2 |
10-129913607-T-A |
c.1065A>T |
p.Q355H |
Missense |
7/15 |
- |
1 |
10-129913607-T-G |
c.1065A>C |
p.Q355H |
Missense |
7/15 |
- |
1 |
10-129913610-T-A |
c.1062A>T |
p.Q354H |
Missense |
7/15 |
- |
1 |
10-129913610-T-G |
c.1062A>C |
p.Q354H |
Missense |
7/15 |
- |
1 |
10-129913611-T-C |
c.1061A>G |
p.Q354R |
Missense |
7/15 |
- |
1 |
10-129913612-G-A |
c.1060C>T |
p.Q354* |
Nonsense |
7/15 |
- |
1 |
10-129913617-G-A |
c.1055C>T |
p.S352L |
Missense |
7/15 |
- |
1 |
10-129913618-A-C |
c.1054T>G |
p.S352A |
Missense |
7/15 |
- |
1 |
10-129913624-G-A |
c.1048C>T |
p.Q350* |
Nonsense |
7/15 |
- |
1 |
10-129913627-C-T |
c.1045G>A |
p.V349I |
Missense |
7/15 |
- |
1 |
10-129913629-G-A |
c.1043C>T |
p.P348L |
Missense |
7/15 |
- |
1 |
10-129913631-G-A |
c.1041C>T |
p.T347= |
Synonymous |
7/15 |
- |
1 |
10-129913632-G-C |
c.1040C>G |
p.T347S |
Missense |
7/15 |
- |
1 |
10-129913632-G-T |
c.1040C>A |
p.T347N |
UnclassifiedSNV |
7/15 |
- |
4 |
10-129913637-C-T |
c.1035G>A |
p.M345I |
Missense |
7/15 |
- |
1 |
10-129913639-T-C |
c.1033A>G |
p.M345V |
Missense |
7/15 |
- |
2 |
10-129913641-TT-GC |
c.1030_1031delinsGC |
p.K344A |
Missense |
7/15 |
- |
1 |
10-129913642-T-C |
c.1030A>G |
p.K344E |
Missense |
7/15 |
- |
2 |
10-129913645-C-A |
c.1027G>T |
p.A343S |
Missense |
7/15 |
- |
1 |
10-129913645-C-T |
c.1027G>A |
p.A343T |
Missense |
7/15 |
- |
1 |
10-129913646-C-A |
c.1026G>T |
p.P342= |
Synonymous |
7/15 |
- |
1 |
10-129913646-C-G |
c.1026G>C |
p.P342= |
Synonymous |
7/15 |
- |
1 |
10-129913646-C-T |
c.1026G>A |
p.P342= |
Synonymous |
7/15 |
- |
1 |
10-129913647-G-T |
c.1025C>A |
p.P342Q |
Missense |
7/15 |
- |
2 |
10-129913648-G-A |
c.1024C>T |
p.P342S |
Missense |
7/15 |
- |
2 |
10-129913650-T-C |
c.1022A>G |
p.E341G |
Missense |
7/15 |
- |
7 |
10-129913651-C-G |
c.1021G>C |
p.E341Q |
Missense |
7/15 |
- |
1 |
10-129913651-TC-T |
c.1021del |
p.E341Sfs*5 |
Frameshift |
7/15 |
- |
3 |
10-129913653-T-C |
c.1019A>G |
p.Y340C |
UnclassifiedSNV |
7/15 |
- |
1 |
10-129913655-AGAG-A |
c.1015_1017del |
p.L339del |
InFrameDeletion |
7/15 |
- |
1 |
10-129913656-A-C |
c.1016T>G |
p.L339R |
Missense |
7/15 |
- |
1 |
10-129913660-G-A |
c.1012C>T |
p.P338S |
Missense |
7/15 |
- |
5 |
10-129913661-A-G |
c.1011T>C |
p.F337= |
Synonymous |
7/15 |
- |
1 |
10-129913665-C-A |
c.1007G>T |
p.S336I |
Missense |
7/15 |
- |
4 |
10-129913667-G-A |
c.1005C>T |
p.A335= |
Synonymous |
7/15 |
- |
1 |
10-129913667-G-C |
c.1005C>G |
p.A335= |
Synonymous |
7/15 |
- |
1 |
10-129913667-G-T |
c.1005C>A |
p.A335= |
Synonymous |
7/15 |
- |
1 |
10-129913668-G-A |
c.1004C>T |
p.A335V |
Missense |
7/15 |
- |
1 |
10-129913668-G-C |
c.1004C>G |
p.A335G |
Missense |
7/15 |
- |
1 |
10-129913669-C-T |
c.1003G>A |
p.A335T |
Missense |
7/15 |
- |
2 |
10-129913670-G-A |
c.1002C>T |
p.G334= |
Synonymous |
7/15 |
- |
3 |
10-129913670-G-C |
c.1002C>G |
p.G334= |
Synonymous |
7/15 |
- |
1 |
10-129913670-G-T |
c.1002C>A |
p.G334= |
Synonymous |
7/15 |
- |
1 |
10-129913671-C-G |
c.1001G>C |
p.G334A |
Missense |
7/15 |
- |
1 |
10-129913671-C-T |
c.1001G>A |
p.G334D |
Missense |
7/15 |
- |
1 |
10-129913672-C-A |
c.1000G>T |
p.G334C |
Missense |
7/15 |
- |
1 |
10-129913672-C-T |
c.1000G>A |
p.G334S |
Missense |
7/15 |
- |
1 |
10-129913675-C-T |
c.997G>A |
p.V333M |
Missense |
7/15 |
- |
1 |
10-129913678-C-A |
c.994G>T |
p.A332S |
Missense |
7/15 |
- |
1 |
10-129913685-G-A |
c.987C>T |
p.P329= |
Synonymous |
7/15 |
- |
1 |
10-129913686-G-A |
c.986C>T |
p.P329L |
Missense |
7/15 |
- |
2 |
10-129913686-GG-CC |
c.985_986inv |
p.P329G |
Missense |
7/15 |
- |
4 |
10-129913688-A-C |
c.984T>G |
p.T328= |
Synonymous |
7/15 |
- |
1 |
10-129913688-A-G |
c.984T>C |
p.T328= |
Synonymous |
7/15 |
- |
1 |
10-129913688-A-T |
c.984T>A |
p.T328= |
Synonymous |
7/15 |
- |
1 |
10-129913688-GAGTCTGAACA-G |
c.975_984del |
p.V326Pfs*17 |
Frameshift |
7/15 |
- |
1 |
10-129913689-GTCTGAACAGACTCCACGTCTC-G |
c.962_982del |
p.R321_Q327del |
InFrameDeletion |
7/15 |
- |
1 |
10-129913692-T-C |
c.980A>G |
p.Q327R |
Missense |
7/15 |
- |
1 |
10-129913693-G-A |
c.979C>T |
p.Q327* |
Nonsense |
7/15 |
- |
3 |
10-129913693-G-T |
c.979C>A |
p.Q327K |
Missense |
7/15 |
- |
1 |
10-129913694-AA-CT |
c.977_978delinsAG |
p.V326E |
Missense |
7/15 |
- |
1 |
10-129913693-GAACAGACTCC-G |
c.969_978del |
p.E324Rfs*19 |
Frameshift |
7/15 |
- |
1 |
10-129913695-A-C |
c.977T>G |
p.V326G |
Missense |
7/15 |
- |
1 |
10-129913699-A-C |
c.973T>G |
p.S325A |
Missense |
7/15 |
- |
1 |
10-129913701-T-C |
c.971A>G |
p.E324G |
Missense |
7/15 |
- |
1 |
10-129913704-A-G |
c.968T>C |
p.V323A |
Missense |
7/15 |
- |
1 |
10-129913705-C-A |
c.967G>T |
p.V323L |
Missense |
7/15 |
- |
1 |
10-129913706-G-A |
c.966C>T |
p.D322= |
Synonymous |
7/15 |
- |
2 |
10-129913707-T-C |
c.965A>G |
p.D322G |
UnclassifiedSNV |
7/15 |
- |
2 |
10-129913712-T-A |
c.960A>T |
p.G320= |
Synonymous |
7/15 |
- |
1 |
10-129913712-T-C |
c.960A>G |
p.G320= |
Synonymous |
7/15 |
- |
1 |
10-129913712-T-G |
c.960A>C |
p.G320= |
Synonymous |
7/15 |
- |
1 |
10-129913713-CC-GT |
c.958_959delinsAC |
p.G320T |
Missense |
7/15 |
- |
1 |
10-129913713-C-T |
c.959G>A |
p.G320E |
Missense |
7/15 |
- |
1 |
10-129913716-T-C |
c.956A>G |
p.K319R |
Missense |
7/15 |
- |
1 |
10-129913716-T-G |
c.956A>C |
p.K319T |
Missense |
7/15 |
- |
1 |
10-129913715-CT-C |
c.956del |
p.K319Rfs*27 |
Frameshift |
7/15 |
- |
2 |
10-129913718-C-A |
c.954G>T |
p.G318= |
Synonymous |
7/15 |
- |
1 |
10-129913718-C-G |
c.954G>C |
p.G318= |
Synonymous |
7/15 |
- |
1 |
10-129913718-C-T |
c.954G>A |
p.G318= |
Synonymous |
7/15 |
- |
2 |
10-129913719-C-A |
c.953G>T |
p.G318V |
Missense |
7/15 |
- |
1 |
10-129913719-C-T |
c.953G>A |
p.G318E |
Missense |
7/15 |
- |
1 |
10-129913717-TC-T |
c.954del |
p.K319Rfs*27 |
Frameshift |
7/15 |
- |
1 |
10-129913721-C-A |
c.951G>T |
p.K317N |
Missense |
7/15 |
- |
1 |
10-129913721-C-G |
c.951G>C |
p.K317N |
Missense |
7/15 |
- |
1 |
10-129913724-G-C |
c.948C>G |
p.N316K |
Missense |
7/15 |
- |
1 |
10-129913724-G-T |
c.948C>A |
p.N316K |
Missense |
7/15 |
- |
1 |
10-129913725-T-C |
c.947A>G |
p.N316S |
Missense |
7/15 |
- |
1 |
10-129913727-TCTG-T |
c.943_945del |
p.Q315del |
InFrameDeletion |
7/15 |
- |
1 |
10-129913728-T-C |
c.944A>G |
p.Q315R |
Missense |
7/15 |
- |
2 |
10-129913737-T-C |
c.935A>G |
p.E312G |
Missense |
7/15 |
- |
2 |
10-129913739-T-C |
c.933A>G |
p.Q311= |
Synonymous |
7/15 |
- |
1 |
10-129913741-G-A |
c.931C>T |
p.Q311* |
Nonsense |
7/15 |
- |
1 |
10-129913743-TC-CT |
c.928_929delinsAG |
p.E310R |
Missense |
7/15 |
- |
1 |
10-129913743-T-G |
c.929A>C |
p.E310A |
Missense |
7/15 |
- |
1 |
10-129913744-C-T |
c.928G>A |
p.E310K |
Missense |
7/15 |
- |
2 |
10-129913745-A-C |
c.927T>G |
p.P309= |
Synonymous |
7/15 |
- |
1 |
10-129913745-A-G |
c.927T>C |
p.P309= |
Synonymous |
7/15 |
- |
1 |
10-129913745-A-T |
c.927T>A |
p.P309= |
Synonymous |
7/15 |
- |
1 |
10-129913746-GG-CC |
c.925_926inv |
p.P309G |
Missense |
7/15 |
- |
1 |
10-129913747-G-A |
c.925C>T |
p.P309S |
Missense |
7/15 |
- |
1 |
10-129913748-T-A |
c.924A>T |
p.S308= |
Synonymous |
7/15 |
- |
1 |
10-129913748-T-C |
c.924A>G |
p.S308= |
Synonymous |
7/15 |
- |
1 |
10-129913748-T-G |
c.924A>C |
p.S308= |
Synonymous |
7/15 |
- |
1 |
10-129913748-TG-AA |
c.923_924delinsTT |
p.S308F |
Missense |
7/15 |
- |
2 |
10-129913748-TG-AC |
c.923_924delinsGT |
p.S308C |
Missense |
7/15 |
- |
1 |
10-129913748-TGA-GTT |
c.922_924delinsAAC |
p.S308N |
Missense |
7/15 |
- |
1 |
10-129913751-A-C |
c.921T>G |
p.A307= |
Synonymous |
7/15 |
- |
1 |
10-129913751-A-G |
c.921T>C |
p.A307= |
Synonymous |
7/15 |
- |
1 |
10-129913751-A-T |
c.921T>A |
p.A307= |
Synonymous |
7/15 |
- |
1 |
10-129913753-C-A |
c.919G>T |
p.A307S |
Missense |
7/15 |
- |
1 |
10-129913753-C-T |
c.919G>A |
p.A307T |
Missense |
7/15 |
- |
2 |
10-129913756-G-A |
c.916C>T |
p.P306S |
Missense |
7/15 |
- |
1 |
10-129913759-C-G |
c.913G>C |
p.E305Q |
Missense |
7/15 |
- |
3 |
10-129913759-C-T |
c.913G>A |
p.E305K |
Missense |
7/15 |
- |
1 |
10-129913761-G-A |
c.911C>T |
p.A304V |
Missense |
7/15 |
- |
1 |
10-129913762-C-T |
c.910G>A |
p.A304T |
Missense |
7/15 |
- |
2 |
10-129913765-C-T |
c.907G>A |
p.V303M |
Missense |
7/15 |
- |
1 |
10-129913768-C-T |
c.904G>A |
p.A302T |
Missense |
7/15 |
- |
1 |
10-129913769-G-A |
c.903C>T |
p.H301= |
Synonymous |
7/15 |
- |
1 |
10-129913771-G-A |
c.901C>T |
p.H301Y |
Missense |
7/15 |
- |
3 |
10-129913773-C-A |
c.899G>T |
p.G300V |
Missense |
7/15 |
- |
1 |
10-129913774-C-A |
c.898G>T |
p.G300C |
Missense |
7/15 |
- |
1 |
10-129913775-G-A |
c.897C>T |
p.S299= |
Synonymous |
7/15 |
- |
1 |
10-129913778-CCC-GCT |
c.892_894delinsAGC |
p.G298S |
Missense |
7/15 |
- |
1 |
10-129913778-CC-GT |
c.893_894delinsAC |
p.G298D |
Missense |
7/15 |
- |
1 |
10-129913778-C-T |
c.894G>A |
p.G298= |
Synonymous |
7/15 |
- |
1 |
10-129913779-C-G |
c.893G>C |
p.G298A |
Missense |
7/15 |
- |
1 |
10-129913779-C-T |
c.893G>A |
p.G298E |
Missense |
7/15 |
- |
1 |
10-129913785-GA-TC |
c.886_887inv |
p.S296D |
Missense |
7/15 |
- |
1 |
10-129913785-G-T |
c.887C>A |
p.S296Y |
Missense |
7/15 |
- |
1 |
10-129913786-A-C |
c.886T>G |
p.S296A |
Missense |
7/15 |
- |
1 |
10-129913786-A-G |
c.886T>C |
p.S296P |
Missense |
7/15 |
- |
1 |
10-129913787-TT-CA |
c.884_885delinsTG |
p.K295M |
Missense |
7/15 |
- |
1 |
10-129913788-T-C |
c.884A>G |
p.K295R |
Missense |
7/15 |
- |
2 |
10-129913789-T-C |
c.883A>G |
p.K295E |
Missense |
7/15 |
- |
1 |
10-129913794-C-A |
c.878G>T |
p.R293I |
Missense |
7/15 |
- |
1 |
10-129913799-C-A |
c.873G>T |
p.K291N |
Missense |
7/15 |
- |
1 |
10-129913799-C-G |
c.873G>C |
p.K291N |
Missense |
7/15 |
- |
1 |
10-129913802-AC-TT |
c.869_870delinsAA |
p.R290Q |
Missense |
7/15 |
- |
1 |
10-129913803-C-T |
c.869G>A |
p.R290H |
Missense |
7/15 |
- |
2 |
10-129913804-G-A |
c.868C>T |
p.R290C |
Missense |
7/15 |
- |
1 |
10-129913806-G-A |
c.866C>T |
p.S289L |
Missense |
7/15 |
- |
1 |
10-129913806-G-T |
c.866C>A |
p.S289* |
Nonsense |
7/15 |
- |
1 |
10-129913808-GAC-CAT |
c.862_864delinsATG |
p.V288M |
Missense |
7/15 |
- |
1 |
10-129913810-C-T |
c.862G>A |
p.V288I |
Missense |
7/15 |
- |
1 |
10-129913812-A-AT |
c.859_860insA |
p.L287Yfs*5 |
Frameshift |
7/15 |
- |
2 |
10-129913817-T-A |
c.855A>T |
p.Q285H |
Missense |
7/15 |
- |
1 |
10-129913817-T-G |
c.855A>C |
p.Q285H |
Missense |
7/15 |
- |
1 |
10-129913819-G-GT |
c.852_853insA |
p.Q285Tfs*7 |
Frameshift |
7/15 |
- |
1 |
10-129913819-G-T |
c.853C>A |
p.Q285K |
Missense |
7/15 |
- |
1 |
10-129913821-G-C |
c.851C>G |
p.T284S |
Missense |
7/15 |
- |
1 |
10-129913821-G-T |
c.851C>A |
p.T284N |
Missense |
7/15 |
- |
2 |
10-129913821-GT-TC |
c.850_851delinsGA |
p.T284D |
Missense |
7/15 |
- |
1 |
10-129913822-T-A |
c.850A>T |
p.T284S |
Missense |
7/15 |
- |
1 |
10-129913821-G-GT |
c.850dup |
p.T284Nfs*8 |
Frameshift |
7/15 |
- |
1 |
10-129913822-T-C |
c.850A>G |
p.T284A |
Missense |
7/15 |
- |
1 |
10-129913824-T-C |
c.848A>G |
p.E283G |
Missense |
7/15 |
- |
1 |
10-129913827-C-T |
c.845G>A |
p.G282E |
Missense |
7/15 |
- |
1 |
10-129913828-C-A |
c.844G>T |
p.G282W |
Missense |
7/15 |
- |
1 |
10-129913828-C-G |
c.844G>C |
p.G282R |
Missense |
7/15 |
- |
1 |
10-129913828-C-T |
c.844G>A |
p.G282R |
Missense |
7/15 |
- |
1 |
10-129913824-TC-T |
c.847del |
p.E283Rfs*63 |
Frameshift |
7/15 |
- |
1 |
10-129913829-C-T |
c.843G>A |
p.Q281= |
Synonymous |
7/15 |
- |
1 |
10-129913831-G-T |
c.841C>A |
p.Q281K |
Missense |
7/15 |
- |
1 |
10-129913836-C-G |
c.836G>C |
p.G279A |
Missense |
7/15 |
- |
1 |
10-129913837-C-G |
c.835G>C |
p.G279R |
Missense |
7/15 |
- |
1 |
10-129913838-A-G |
c.834T>C |
p.D278= |
Synonymous |
7/15 |
- |
1 |
10-129913839-T-C |
c.833A>G |
p.D278G |
Missense |
7/15 |
- |
4 |
10-129913840-C-G |
c.832G>C |
p.D278H |
Missense |
7/15 |
- |
1 |
10-129913840-C-T |
c.832G>A |
p.D278N |
Missense |
7/15 |
- |
1 |
10-129913841-A-C |
c.831T>G |
p.A277= |
Synonymous |
7/15 |
- |
1 |
10-129913841-A-G |
c.831T>C |
p.A277= |
Synonymous |
7/15 |
- |
1 |
10-129913841-A-T |
c.831T>A |
p.A277= |
Synonymous |
7/15 |
- |
1 |
10-129913842-G-A |
c.830C>T |
p.A277V |
Missense |
7/15 |
- |
3 |
10-129913845-C-G |
c.827G>C |
p.S276T |
Missense |
7/15 |
- |
1 |
10-129913849-C-A |
c.823G>T |
p.E275* |
Nonsense |
7/15 |
- |
1 |
10-129913850-T-A |
c.822A>T |
p.K274N |
Missense |
7/15 |
- |
4 |
10-129913850-T-G |
c.822A>C |
p.K274N |
Missense |
7/15 |
- |
3 |
10-129913850-TTT-CCA |
c.820_822delinsTGG |
p.K274W |
Missense |
7/15 |
- |
1 |
10-129913850-TTT-GTC |
c.820_822delinsGAC |
p.K274D |
Missense |
7/15 |
- |
1 |
10-129913855-C-G |
c.817G>C |
p.E273Q |
Missense |
7/15 |
- |
1 |
10-129913855-C-T |
c.817G>A |
p.E273K |
Missense |
7/15 |
- |
1 |
10-129913858-T-C |
c.814A>G |
p.T272A |
Missense |
7/15 |
- |
1 |
10-129913859-TGC-T |
c.811_812del |
p.A271Nfs*7 |
Frameshift |
7/15 |
- |
1 |
10-129913861-C-T |
c.811G>A |
p.A271T |
Missense |
7/15 |
- |
4 |
10-129913862-G-A |
c.810C>T |
p.Y270= |
Synonymous |
7/15 |
- |
9 |
10-129913866-T-C |
c.806A>G |
p.D269G |
Missense |
7/15 |
- |
1 |
10-129913868-A-C |
c.804T>G |
p.T268= |
Synonymous |
7/15 |
- |
1 |
10-129913868-A-G |
c.804T>C |
p.T268= |
Synonymous |
7/15 |
- |
1 |
10-129913868-A-T |
c.804T>A |
p.T268= |
Synonymous |
7/15 |
- |
1 |
10-129913871-T-C |
c.801A>G |
p.Q267= |
Synonymous |
7/15 |
- |
1 |
10-129913876-A-C |
c.796T>G |
p.L266V |
Missense |
7/15 |
- |
1 |
10-129913877-TCC-GCT |
c.793_795delinsAGC |
p.G265S |
Missense |
7/15 |
- |
1 |
10-129913878-C-T |
c.794G>A |
p.G265E |
Missense |
7/15 |
- |
4 |
10-129913880-A-C |
c.792T>G |
p.S264= |
Synonymous |
7/15 |
- |
2 |
10-129913880-A-G |
c.792T>C |
p.S264= |
Synonymous |
7/15 |
- |
2 |
10-129913880-A-T |
c.792T>A |
p.S264= |
Synonymous |
7/15 |
- |
2 |
10-129913881-G-C |
c.791C>G |
p.S264C |
Missense |
7/15 |
- |
2 |
10-129913882-A-G |
c.790T>C |
p.S264P |
Missense |
7/15 |
- |
1 |
10-129913886-T-A |
c.786A>T |
p.R262S |
Missense |
7/15 |
- |
1 |
10-129913886-TCT-ACA |
c.784_786delinsTGT |
p.R262C |
Missense |
7/15 |
- |
1 |
10-129913886-T-G |
c.786A>C |
p.R262S |
Missense |
7/15 |
- |
1 |
10-129913887-C-A |
c.785G>T |
p.R262I |
Missense |
7/15 |
- |
1 |
10-129913889-A-G |
c.783T>C |
p.C261= |
Synonymous |
7/15 |
- |
1 |
10-129913896-T-C |
c.776A>G |
p.Q259R |
Missense |
7/15 |
- |
1 |
10-129913899-A-T |
c.773T>A |
p.L258Q |
Missense |
7/15 |
- |
2 |
10-129913900-G-A |
c.772C>T |
p.L258= |
Synonymous |
7/15 |
- |
1 |
10-129913900-G-T |
c.772C>A |
p.L258I |
Missense |
7/15 |
- |
1 |
10-129913901-G-A |
c.771C>T |
p.V257= |
Synonymous |
7/15 |
- |
1 |
10-129913902-A-G |
c.770T>C |
p.V257A |
Missense |
7/15 |
- |
1 |
10-129913907-T-C |
c.765A>G |
p.E255= |
Synonymous |
7/15 |
- |
1 |
10-129913908-T-A |
c.764A>T |
p.E255V |
Missense |
7/15 |
- |
2 |
10-129913909-C-A |
c.763G>T |
p.E255* |
Nonsense |
7/15 |
- |
2 |
10-129913909-C-T |
c.763G>A |
p.E255K |
Missense |
7/15 |
- |
7 |
10-129913910-T-A |
c.762A>T |
p.K254N |
UnclassifiedSNV |
7/15 |
- |
3 |
10-129913910-T-G |
c.762A>C |
p.K254N |
Missense |
7/15 |
- |
2 |
10-129913914-T-G |
c.758A>C |
p.Q253P |
Missense |
7/15 |
- |
3 |
10-129913915-G-A |
c.757C>T |
p.Q253* |
Nonsense |
7/15 |
- |
1 |
10-129913916-TG-AA |
c.755_756delinsTT |
p.S252F |
Missense |
7/15 |
- |
1 |
10-129913919-T-A |
c.753A>T |
p.K251N |
Missense |
7/15 |
- |
1 |
10-129913919-T-G |
c.753A>C |
p.K251N |
Missense |
7/15 |
- |
1 |
10-129913922-T-A |
c.750A>T |
p.V250= |
Synonymous |
7/15 |
- |
1 |
10-129913922-T-C |
c.750A>G |
p.V250= |
Synonymous |
7/15 |
- |
1 |
10-129913922-T-G |
c.750A>C |
p.V250= |
Synonymous |
7/15 |
- |
1 |
10-129913924-C-A |
c.748G>T |
p.V250L |
Missense |
7/15 |
- |
1 |
10-129913924-C-T |
c.748G>A |
p.V250I |
Missense |
7/15 |
- |
1 |
10-129913926-T-G |
c.746A>C |
p.D249A |
Missense |
7/15 |
- |
1 |
10-129913927-C-T |
c.745G>A |
p.D249N |
Missense |
7/15 |
- |
2 |
10-129913928-C-A |
c.744G>T |
p.L248F |
Missense |
7/15 |
- |
1 |
10-129913928-C-G |
c.744G>C |
p.L248F |
Missense |
7/15 |
- |
1 |
10-129913929-AA-CT |
c.742_743delinsAG |
p.L248R |
Missense |
7/15 |
- |
1 |
10-129913929-AA-GG |
c.742_743delinsCC |
p.L248P |
Missense |
7/15 |
- |
1 |
10-129913928-C-T |
c.744G>A |
p.L248= |
Synonymous |
7/15 |
- |
1 |
10-129913930-A-G |
c.742T>C |
p.L248= |
Synonymous |
7/15 |
- |
1 |
10-129913932-T-A |
c.740A>T |
p.E247V |
Missense |
7/15 |
- |
1 |
10-129913933-C-A |
c.739G>T |
p.E247* |
Nonsense |
7/15 |
- |
1 |
10-129913933-C-CGA |
c.738_739insTC |
p.E247Sfs*5 |
Frameshift |
7/15 |
- |
1 |
10-129913933-C-T |
c.739G>A |
p.E247K |
Missense |
7/15 |
- |
1 |
10-129913936-T-C |
c.736A>G |
p.K246E |
Missense |
7/15 |
- |
1 |
10-129913938-T-G |
c.734A>C |
p.K245T |
Missense |
7/15 |
- |
2 |
10-129913939-T-C |
c.733A>G |
p.K245E |
Missense |
7/15 |
- |
1 |
10-129913940-C-A |
c.732G>T |
p.V244= |
Synonymous |
7/15 |
- |
1 |
10-129913940-C-G |
c.732G>C |
p.V244= |
Synonymous |
7/15 |
- |
1 |
10-129913940-C-T |
c.732G>A |
p.V244= |
Synonymous |
7/15 |
- |
1 |
10-129913942-C-T |
c.730G>A |
p.V244M |
Missense |
7/15 |
- |
1 |
10-129913944-G-A |
c.728C>T |
p.S243L |
Missense |
7/15 |
- |
1 |
10-129913948-C-T |
c.724G>A |
p.E242K |
Missense |
7/15 |
- |
1 |
10-129913951-A-G |
c.721T>C |
p.Y241H |
Missense |
7/15 |
- |
1 |
10-129913952-A-G |
c.720T>C |
p.L240= |
Synonymous |
7/15 |
- |
1 |
10-129913955-C-A |
c.717G>T |
p.K239N |
Missense |
7/15 |
- |
1 |
10-129913955-C-T |
c.717G>A |
p.K239= |
Synonymous |
7/15 |
- |
1 |
10-129913960-A-G |
c.712T>C |
p.W238R |
Missense |
7/15 |
- |
7 |
10-129913960-A-T |
c.712T>A |
p.W238R |
Missense |
7/15 |
- |
26 |
10-129913962-A-G |
c.710T>C |
p.F237S |
Missense |
7/15 |
- |
1 |
10-129913964-GG-TT |
c.707_708delinsAA |
p.P236Q |
Missense |
7/15 |
- |
1 |
10-129913965-G-A |
c.707C>T |
p.P236L |
Missense |
7/15 |
- |
7 |
10-129913965-GG-AA |
c.706_707delinsTT |
p.P236F |
Missense |
7/15 |
- |
1 |
10-129913966-G-A |
c.706C>T |
p.P236S |
Missense |
7/15 |
- |
5 |
10-129913968-G-T |
c.704C>A |
p.S235Y |
Missense |
7/15 |
- |
2 |
10-129913969-A-G |
c.703T>C |
p.S235P |
Missense |
7/15 |
- |
1 |
10-129913972-C-A |
c.700G>T |
p.E234* |
Nonsense |
7/15 |
- |
4 |
10-129913972-C-CT |
c.699_700insA |
p.E234Rfs*9 |
Frameshift |
7/15 |
- |
2 |
10-129913972-C-G |
c.700G>C |
p.E234Q |
Missense |
7/15 |
- |
1 |
10-129913973-A-G |
c.699T>C |
p.N233= |
Synonymous |
7/15 |
- |
3 |
10-129913973-A-T |
c.699T>A |
p.N233K |
Missense |
7/15 |
- |
2 |
10-129913973-AT-CA |
c.698_699delinsTG |
p.N233M |
Missense |
7/15 |
- |
1 |
10-129913974-T-C |
c.698A>G |
p.N233S |
Missense |
7/15 |
- |
1 |
10-129913975-T-TA |
c.696_697insT |
p.N233* |
Nonsense |
7/15 |
- |
4 |
10-129913976-T-A |
c.696A>T |
p.K232N |
Missense |
7/15 |
- |
1 |
10-129913976-T-G |
c.696A>C |
p.K232N |
Missense |
7/15 |
- |
1 |
10-129913980-TT-GC |
c.691_692delinsGC |
p.K231A |
Missense |
7/15 |
- |
1 |
10-129913973-A-AT |
c.698dup |
p.N233Kfs*2 |
Frameshift |
7/15 |
- |
3 |
10-129913973-AT-A |
c.698del |
p.N233Mfs*12 |
Frameshift |
7/15 |
- |
6 |
10-129913982-GCT-TCA |
c.688_690delinsTGA |
p.S230* |
Nonsense |
7/15 |
- |
1 |
10-129913983-C-T |
c.689G>A |
p.S230N |
Missense |
7/15 |
- |
1 |
10-129913983-CT-GC |
c.688_689delinsGC |
p.S230A |
Missense |
7/15 |
- |
1 |
10-129913990-C-G |
c.682G>C |
p.D228H |
Missense |
7/15 |
- |
2 |
10-129913990-C-T |
c.682G>A |
p.D228N |
Missense |
7/15 |
- |
1 |
10-129913992-A-T |
c.680T>A |
p.L227H |
Missense |
7/15 |
- |
1 |
10-129913993-G-A |
c.679C>T |
p.L227F |
Missense |
7/15 |
- |
1 |
10-129913993-G-C |
c.679C>G |
p.L227V |
Missense |
7/15 |
- |
1 |
10-129913994-A-G |
c.678T>C |
p.C226= |
Synonymous |
7/15 |
- |
2 |
10-129913996-A-C |
c.676T>G |
p.C226G |
Missense |
7/15 |
- |
1 |
10-129914000-TGT-ACA |
c.670_672inv |
p.T224C |
Missense |
7/15 |
- |
1 |
10-129914003-A-C |
c.669T>G |
p.T223= |
Synonymous |
7/15 |
- |
1 |
10-129914003-A-G |
c.669T>C |
p.T223= |
Synonymous |
7/15 |
- |
1 |
10-129914003-A-T |
c.669T>A |
p.T223= |
Synonymous |
7/15 |
- |
1 |
10-129914004-G-A |
c.668C>T |
p.T223I |
Missense |
7/15 |
- |
1 |
10-129914004-G-C |
c.668C>G |
p.T223S |
Missense |
7/15 |
- |
1 |
10-129914005-T-A |
c.667A>T |
p.T223S |
Missense |
7/15 |
- |
1 |
10-129914006-G-A |
c.666C>T |
p.P222= |
Synonymous |
7/15 |
- |
3 |
10-129914006-G-C |
c.666C>G |
p.P222= |
Synonymous |
7/15 |
- |
3 |
10-129914006-G-T |
c.666C>A |
p.P222= |
Synonymous |
7/15 |
- |
3 |
10-129914007-G-A |
c.665C>T |
p.P222L |
Missense |
7/15 |
- |
2 |
10-129914007-G-C |
c.665C>G |
p.P222R |
Missense |
7/15 |
- |
2 |
10-129914008-G-A |
c.664C>T |
p.P222S |
Missense |
7/15 |
- |
1 |
10-129914008-G-C |
c.664C>G |
p.P222A |
Missense |
7/15 |
- |
1 |
10-129914009-A-G |
c.663T>C |
p.V221= |
Synonymous |
7/15 |
- |
1 |
10-129914013-G-T |
c.659C>A |
p.S220Y |
Missense |
7/15 |
- |
1 |
10-129914016-T-A |
c.656A>T |
p.K219M |
Missense |
7/15 |
- |
1 |
10-129914017-T-G |
c.655A>C |
p.K219Q |
Missense |
7/15 |
- |
4 |
10-129914018-C-T |
c.654G>A |
p.L218= |
Synonymous |
7/15 |
- |
2 |
10-129914020-A-G |
c.652T>C |
p.L218= |
Synonymous |
7/15 |
- |
1 |
10-129914021-T-A |
c.651A>T |
p.E217D |
UnclassifiedSNV |
7/15 |
- |
2 |
10-129914021-T-G |
c.651A>C |
p.E217D |
Missense |
7/15 |
- |
1 |
10-129914023-C-T |
c.649G>A |
p.E217K |
UnclassifiedSNV |
7/15 |
- |
3 |
10-129914025-C-G |
c.647G>C |
p.G216A |
Missense |
7/15 |
- |
1 |
10-129914025-C-T |
c.647G>A |
p.G216E |
Missense |
7/15 |
- |
6 |
10-129914026-C-A |
c.646G>T |
p.G216* |
Nonsense |
7/15 |
- |
1 |
10-129914031-C-T |
c.641G>A |
p.R214H |
Missense |
7/15 |
- |
1 |
10-129914032-G-A |
c.640C>T |
p.R214C |
Missense |
7/15 |
- |
2 |
10-129914032-G-C |
c.640C>G |
p.R214G |
Missense |
7/15 |
- |
1 |
10-129914032-G-T |
c.640C>A |
p.R214S |
Missense |
7/15 |
- |
1 |
10-129914033-G-A |
c.639C>T |
p.S213= |
Synonymous |
7/15 |
- |
5 |
10-129914034-C-T |
c.638G>A |
p.S213N |
Missense |
7/15 |
- |
1 |
10-129914034-CT-GC |
c.637_638delinsGC |
p.S213A |
Missense |
7/15 |
- |
1 |
10-129914035-T-C |
c.637A>G |
p.S213G |
Missense |
7/15 |
- |
1 |
10-129914039-T-C |
c.633A>G |
p.L211= |
Synonymous |
7/15 |
- |
1 |
10-129914043-T-A |
c.629A>T |
p.K210I |
Missense |
7/15 |
- |
1 |
10-129914043-T-C |
c.629A>G |
p.K210R |
Missense |
7/15 |
- |
2 |
10-129914045-A-C |
c.627T>G |
p.V209= |
Synonymous |
7/15 |
- |
1 |
10-129914045-A-G |
c.627T>C |
p.V209= |
Synonymous |
7/15 |
- |
1 |
10-129914045-A-T |
c.627T>A |
p.V209= |
Synonymous |
7/15 |
- |
1 |
10-129914046-A-G |
c.626T>C |
p.V209A |
Missense |
7/15 |
- |
12 |
10-129914047-C-A |
c.625G>T |
p.V209F |
Missense |
7/15 |
- |
1 |
10-129914047-C-T |
c.625G>A |
p.V209I |
Missense |
7/15 |
- |
2 |
10-129914048-G-A |
c.624C>T |
p.S208= |
Synonymous |
7/15 |
- |
1 |
10-129914050-T-C |
c.622A>G |
p.S208G |
Missense |
7/15 |
- |
1 |
10-129914052-G-A |
c.620C>T |
p.S207F |
Missense |
7/15 |
- |
2 |
10-129914052-GA-AG |
c.619_620delinsCT |
p.S207L |
Missense |
7/15 |
- |
1 |
10-129914055-A-G |
c.617T>C |
p.I206T |
Missense |
7/15 |
- |
1 |
10-129914055-AT-A |
c.616del |
p.I206Ffs*6 |
Frameshift |
7/15 |
- |
1 |
10-129914059-C-A |
c.613G>T |
p.E205* |
Nonsense |
7/15 |
- |
1 |
10-129914059-C-T |
c.613G>A |
p.E205K |
Missense |
7/15 |
- |
1 |
10-129914060-T-C |
c.612A>G |
p.K204= |
Synonymous |
7/15 |
- |
2 |
10-129914064-AA-GT |
c.607_608delinsAC |
p.F203T |
Missense |
7/15 |
- |
1 |
10-129914068-C-A |
c.604G>T |
p.D202Y |
Missense |
7/15 |
- |
1 |
10-129914068-C-T |
c.604G>A |
p.D202N |
Missense |
7/15 |
- |
1 |
10-129914070-C-A |
c.602G>T |
p.G201V |
Missense |
7/15 |
- |
1 |
10-129914070-C-G |
c.602G>C |
p.G201A |
Missense |
7/15 |
- |
1 |
10-129914071-C-G |
c.601G>C |
p.G201R |
Missense |
7/15 |
- |
1 |
10-129914071-C-T |
c.601G>A |
p.G201R |
Missense |
7/15 |
- |
1 |
10-129914073-G-A |
c.599C>T |
p.S200F |
Missense |
7/15 |
- |
7 |
10-129914073-GA-TT |
c.598_599delinsAA |
p.S200N |
Missense |
7/15 |
- |
1 |
10-129914073-G-C |
c.599C>G |
p.S200C |
Missense |
7/15 |
- |
1 |
10-129914074-A-C |
c.598T>G |
p.S200A |
Missense |
7/15 |
- |
1 |
10-129914074-A-G |
c.598T>C |
p.S200P |
Missense |
7/15 |
- |
1 |
10-129914075-A-C |
c.597T>G |
p.I199M |
Missense |
7/15 |
- |
1 |
10-129914076-AT-GC |
c.595_596delinsGC |
p.I199A |
Missense |
7/15 |
- |
1 |
10-129914077-T-TTA |
c.594_595insTA |
p.I199* |
Nonsense |
7/15 |
- |
1 |
10-129914078-G-T |
c.594C>A |
p.P198= |
Synonymous |
7/15 |
- |
1 |
10-129914079-G-A |
c.593C>T |
p.P198L |
Missense |
7/15 |
- |
1 |
10-129914079-G-T |
c.593C>A |
p.P198H |
Missense |
7/15 |
- |
1 |
10-129914083-C-T |
c.589G>A |
p.D197N |
Missense |
7/15 |
- |
1 |
10-129914086-C-T |
c.586G>A |
p.A196T |
Missense |
7/15 |
- |
1 |
10-129914088-G-A |
c.584C>T |
p.A195V |
Missense |
7/15 |
- |
1 |
10-129914088-G-T |
c.584C>A |
p.A195E |
Missense |
7/15 |
- |
1 |
10-129914089-C-A |
c.583G>T |
p.A195S |
Missense |
7/15 |
- |
1 |
10-129914089-C-T |
c.583G>A |
p.A195T |
Missense |
7/15 |
- |
1 |
10-129914091-T-C |
c.581A>G |
p.N194S |
Missense |
7/15 |
- |
1 |
10-129914094-C-G |
c.578G>C |
p.R193T |
Missense |
7/15 |
- |
1 |
10-129914094-C-T |
c.578G>A |
p.R193K |
Missense |
7/15 |
- |
1 |
10-129914103-C-A |
c.569G>T |
p.R190L |
Missense |
7/15 |
- |
1 |
10-129914104-G-A |
c.568C>T |
p.R190C |
Missense |
7/15 |
- |
1 |
10-129914104-G-T |
c.568C>A |
p.R190S |
Missense |
7/15 |
- |
2 |
10-129914106-C-G |
c.566G>C |
p.G189A |
Missense |
7/15 |
- |
1 |
10-129914109-G-A |
c.563C>T |
p.A188V |
Missense |
7/15 |
- |
1 |
10-129914109-G-C |
c.563C>G |
p.A188G |
Missense |
7/15 |
- |
1 |
10-129914110-C-G |
c.562G>C |
p.A188P |
Missense |
7/15 |
- |
1 |
10-129914113-G-C |
c.559C>G |
p.H187D |
Missense |
7/15 |
- |
1 |
10-129914116-C-T |
c.556G>A |
p.E186K |
Missense |
7/15 |
- |
1 |
10-129914118-G-A |
c.554C>T |
p.S185L |
Missense |
7/15 |
- |
3 |
10-129914118-G-C |
c.554C>G |
p.S185* |
Nonsense |
7/15 |
- |
1 |
10-129914118-G-T |
c.554C>A |
p.S185* |
Nonsense |
7/15 |
- |
1 |
10-129914120-G-A |
c.552C>T |
p.S184= |
Synonymous |
7/15 |
- |
1 |
10-129914120-G-C |
c.552C>G |
p.S184= |
Synonymous |
7/15 |
- |
1 |
10-129914120-G-T |
c.552C>A |
p.S184= |
Synonymous |
7/15 |
- |
1 |
10-129914121-G-C |
c.551C>G |
p.S184C |
Missense |
7/15 |
- |
1 |
10-129914129-A-C |
c.543T>G |
p.N181K |
Missense |
7/15 |
- |
1 |
10-129914130-T-G |
c.542A>C |
p.N181T |
Missense |
7/15 |
- |
2 |
10-129914134-T-C |
c.538A>G |
p.T180A |
Missense |
7/15 |
- |
1 |
10-129914134-T-G |
c.538A>C |
p.T180P |
Missense |
7/15 |
- |
1 |
10-129914133-GT-G |
c.538del |
p.T180Lfs*32 |
Frameshift |
7/15 |
- |
1 |
10-129914136-G-A |
c.536C>T |
p.T179I |
Missense |
7/15 |
- |
2 |
10-129914138-TCC-GCT |
c.532_534delinsAGC |
p.G178S |
Missense |
7/15 |
- |
1 |
10-129914141-C-A |
c.531G>T |
p.Q177H |
Missense |
7/15 |
- |
2 |
10-129914141-C-G |
c.531G>C |
p.Q177H |
Missense |
7/15 |
- |
1 |
10-129914142-T-A |
c.530A>T |
p.Q177L |
Missense |
7/15 |
- |
1 |
10-129914145-G-A |
c.527C>T |
p.A176V |
Missense |
7/15 |
- |
1 |
10-129914146-C-A |
c.526G>T |
p.A176S |
Missense |
7/15 |
- |
1 |
10-129914147-AAC-CAT |
c.523_525delinsATG |
p.V175M |
Missense |
7/15 |
- |
1 |
10-129914149-C-T |
c.523G>A |
p.V175I |
Missense |
7/15 |
- |
1 |
10-129914153-G-C |
c.519C>G |
p.D173E |
Missense |
7/15 |
- |
1 |
10-129914153-G-T |
c.519C>A |
p.D173E |
Missense |
7/15 |
- |
1 |
10-129914155-C-G |
c.517G>C |
p.D173H |
Missense |
7/15 |
- |
1 |
10-129914155-C-T |
c.517G>A |
p.D173N |
Missense |
7/15 |
- |
3 |
10-129914157-T-C |
c.515A>G |
p.K172R |
Missense |
7/15 |
- |
1 |
10-129914158-T-C |
c.514A>G |
p.K172E |
Missense |
7/15 |
- |
1 |
10-129914160-G-C |
c.512C>G |
p.S171* |
Nonsense |
7/15 |
- |
2 |
10-129914161-A-C |
c.511T>G |
p.S171A |
Missense |
7/15 |
- |
1 |
10-129914162-G-A |
c.510C>T |
p.D170= |
Synonymous |
7/15 |
- |
1 |
10-129914162-G-C |
c.510C>G |
p.D170E |
Missense |
7/15 |
- |
5 |
10-129914162-G-T |
c.510C>A |
p.D170E |
Missense |
7/15 |
- |
3 |
10-129914165-A-T |
c.507delinsA |
p.D169E |
Missense |
7/15 |
- |
1 |
10-129914169-G-A |
c.503C>T |
p.A168V |
Missense |
7/15 |
- |
1 |
10-129914169-G-T |
c.503C>A |
p.A168E |
Missense |
7/15 |
- |
1 |
10-129914170-C-T |
c.502G>A |
p.A168T |
Missense |
7/15 |
- |
2 |
10-129914172-G-C |
c.500C>G |
p.T167S |
Missense |
7/15 |
- |
1 |
10-129914172-GT-CC |
c.499_500delinsGG |
p.T167G |
Missense |
7/15 |
- |
1 |
10-129914173-T-A |
c.499A>T |
p.T167S |
Missense |
7/15 |
- |
1 |
10-129914177-TG-T |
c.495del |
p.D165Efs*47 |
Frameshift |
7/15 |
- |
1 |
10-129914178-T-C |
c.494A>G |
p.D165G |
Missense |
7/15 |
- |
2 |
10-129914179-C-A |
c.493G>T |
p.D165Y |
Missense |
7/15 |
- |
1 |
10-129914179-C-G |
c.493G>C |
p.D165H |
Missense |
7/15 |
- |
4 |
10-129914179-C-T |
c.493G>A |
p.D165N |
Missense |
7/15 |
- |
1 |
10-129914180-T-A |
c.492A>T |
p.E164D |
Missense |
7/15 |
- |
1 |
10-129914180-T-G |
c.492A>C |
p.E164D |
Missense |
7/15 |
- |
1 |
10-129914181-T-C |
c.491A>G |
p.E164G |
Missense |
7/15 |
- |
1 |
10-129914182-C-G |
c.490G>C |
p.E164Q |
Missense |
7/15 |
- |
2 |
10-129914182-C-T |
c.490G>A |
p.E164K |
Missense |
7/15 |
- |
1 |
10-129914182-TC-T |
c.490del |
p.E164Kfs*48 |
Frameshift |
7/15 |
- |
1 |
10-129914184-T-C |
c.488A>G |
p.K163R |
Missense |
7/15 |
- |
1 |
10-129914186-G-A |
c.486C>T |
p.V162= |
Synonymous |
7/15 |
- |
1 |
10-129914186-G-C |
c.486C>G |
p.V162= |
Synonymous |
7/15 |
- |
1 |
10-129914186-G-T |
c.486C>A |
p.V162= |
Synonymous |
7/15 |
- |
1 |
10-129914190-TT-GC |
c.481_482delinsGC |
p.N161A |
Missense |
7/15 |
- |
1 |
10-129914193-T-C |
c.479A>G |
p.K160R |
Missense |
7/15 |
- |
1 |
10-129914199-T-C |
c.473A>G |
p.H158R |
Missense |
7/15 |
- |
1 |
10-129914201-TAC-AAA |
c.469_471delinsTTT |
p.V157F |
Missense |
7/15 |
- |
1 |
10-129914203-C-T |
c.469G>A |
p.V157I |
Missense |
7/15 |
- |
1 |
10-129914204-C-G |
c.468G>C |
p.Q156H |
Missense |
7/15 |
- |
1 |
10-129914206-G-A |
c.466C>T |
p.Q156* |
Nonsense |
7/15 |
- |
1 |
10-129914206-G-C |
c.466C>G |
p.Q156E |
Missense |
7/15 |
- |
1 |
10-129914208-G-A |
c.464C>T |
p.P155L |
Missense |
7/15 |
- |
1 |
10-129914208-G-T |
c.464C>A |
p.P155H |
Missense |
7/15 |
- |
1 |
10-129914209-G-A |
c.463C>T |
p.P155S |
Missense |
7/15 |
- |
5 |
10-129914212-T-C |
c.460A>G |
p.N154D |
Missense |
7/15 |
- |
1 |
10-129914212-T-G |
c.460A>C |
p.N154H |
Missense |
7/15 |
- |
1 |
10-129914213-T-A |
c.459A>T |
p.G153= |
Synonymous |
7/15 |
- |
1 |
10-129914216-T-G |
c.456A>C |
p.S152= |
Synonymous |
7/15 |
- |
1 |
10-129914217-G-A |
c.455C>T |
p.S152L |
Missense |
7/15 |
- |
2 |
10-129914217-G-C |
c.455C>G |
p.S152* |
Nonsense |
7/15 |
- |
1 |
10-129914218-A-C |
c.454T>G |
p.S152A |
Missense |
7/15 |
- |
1 |
10-129914219-AAC-CAT |
c.451_453delinsATG |
p.V151M |
Missense |
7/15 |
- |
1 |
10-129914223-T-C |
c.449A>G |
p.K150R |
Missense |
7/15 |
- |
1 |
10-129914225-T-C |
c.447A>G |
p.G149= |
Synonymous |
7/15 |
- |
1 |
10-129914226-C-T |
c.446G>A |
p.G149E |
Missense |
7/15 |
- |
1 |
10-129914230-C-T |
c.442G>A |
p.E148K |
Missense |
7/15 |
- |
1 |
10-129914236-T-A |
c.436A>T |
p.I146F |
Missense |
7/15 |
- |
1 |
10-129914239-T-G |
c.433A>C |
p.K145Q |
Missense |
7/15 |
- |
1 |
10-129914240-TG-AC |
c.431_432delinsGT |
p.S144C |
Missense |
7/15 |
- |
1 |
10-129914241-G-A |
c.431C>T |
p.S144L |
Missense |
7/15 |
- |
1 |
10-129914241-GA-AT |
c.430_431delinsAT |
p.S144I |
Missense |
7/15 |
- |
1 |
10-129914244-T-C |
c.428A>G |
p.Y143C |
Missense |
7/15 |
- |
1 |
10-129914246-G-A |
c.426C>T |
p.A142= |
Synonymous |
7/15 |
- |
1 |
10-129914246-G-C |
c.426C>G |
p.A142= |
Synonymous |
7/15 |
- |
1 |
10-129914246-G-T |
c.426C>A |
p.A142= |
Synonymous |
7/15 |
- |
1 |
10-129914247-G-T |
c.425C>A |
p.A142D |
Missense |
7/15 |
- |
1 |
10-129914249-C-G |
c.423G>C |
p.K141N |
Missense |
7/15 |
- |
1 |
10-129914249-C-T |
c.423G>A |
p.K141= |
Synonymous |
7/15 |
- |
1 |
10-129914253-G-A |
c.419C>T |
p.S140F |
Missense |
7/15 |
- |
1 |
10-129914262-G-A |
c.410C>T |
p.A137V |
Missense |
7/15 |
- |
1 |
10-129914262-G-C |
c.410C>G |
p.A137G |
Missense |
7/15 |
- |
1 |
10-129914267-C-T |
c.405G>A |
p.E135= |
Synonymous |
7/15 |
- |
1 |
10-129914270-A-G |
c.402T>C |
p.D134= |
Synonymous |
7/15 |
- |
1 |
10-129914272-C-T |
c.401-1G>A |
- |
IntronicSNV |
- |
6/14 |
1 |
10-129914755-C-T |
c.400G>A |
p.D134N |
Missense |
6/15 |
- |
3 |
10-129914759-G-A |
c.396C>T |
p.D132= |
Synonymous |
6/15 |
- |
2 |
10-129914761-C-T |
c.394G>A |
p.D132N |
Missense |
6/15 |
- |
1 |
10-129914763-G-T |
c.392C>A |
p.S131Y |
Missense |
6/15 |
- |
1 |
10-129914768-GA-TT |
c.386_387delinsAA |
p.F129* |
Nonsense |
6/15 |
- |
1 |
10-129914768-G-C |
c.387C>G |
p.F129L |
Missense |
6/15 |
- |
2 |
10-129914768-G-T |
c.387C>A |
p.F129L |
Missense |
6/15 |
- |
2 |
10-129914770-A-G |
c.385T>C |
p.F129L |
Missense |
6/15 |
- |
2 |
10-129914771-G-A |
c.384C>T |
p.S128= |
Synonymous |
6/15 |
- |
1 |
10-129914771-G-C |
c.384C>G |
p.S128R |
Missense |
6/15 |
- |
1 |
10-129914771-G-T |
c.384C>A |
p.S128R |
Missense |
6/15 |
- |
1 |
10-129914772-C-T |
c.383G>A |
p.S128N |
Missense |
6/15 |
- |
1 |
10-129914774-A-C |
c.381T>G |
p.S127= |
Synonymous |
6/15 |
- |
1 |
10-129914774-AGA-CTC |
c.379_381delinsGAG |
p.S127E |
Missense |
6/15 |
- |
1 |
10-129914775-G-A |
c.380C>T |
p.S127F |
Missense |
6/15 |
- |
1 |
10-129914776-A-C |
c.379T>G |
p.S127A |
Missense |
6/15 |
- |
14 |
10-129914777-T-C |
c.378A>G |
p.R126= |
Synonymous |
6/15 |
- |
1 |
10-129914777-TCT-ATG |
c.376_378delinsCAT |
p.R126H |
Missense |
6/15 |
- |
1 |
10-129914777-T-G |
c.378A>C |
p.R126S |
Missense |
6/15 |
- |
1 |
10-129914779-T-G |
c.376A>C |
p.R126= |
Synonymous |
6/15 |
- |
1 |
10-129914778-C-T |
c.377G>A |
p.R126K |
Missense |
6/15 |
- |
1 |
10-129914778-CT-C |
c.376del |
p.R126Dfs*86 |
Frameshift |
6/15 |
- |
1 |
10-129914784-A-G |
c.371T>C |
p.V124A |
Missense |
6/15 |
- |
1 |
10-129914786-ACG-CTC |
c.367_369delinsGAG |
p.R123E |
Missense |
6/15 |
- |
1 |
10-129914787-C-T |
c.368G>A |
p.R123H |
Missense |
6/15 |
- |
19 |
10-129914788-G-A |
c.367C>T |
p.R123C |
Missense |
6/15 |
- |
1 |
10-129914789-A-C |
c.366T>G |
p.R122= |
Synonymous |
6/15 |
- |
1 |
10-129914789-ACG-TCA |
c.364_366delinsTGA |
p.R122* |
Nonsense |
6/15 |
- |
1 |
10-129914789-AC-TT |
c.365_366delinsAA |
p.R122Q |
Missense |
6/15 |
- |
1 |
10-129914789-A-G |
c.366T>C |
p.R122= |
Synonymous |
6/15 |
- |
1 |
10-129914789-A-T |
c.366T>A |
p.R122= |
Synonymous |
6/15 |
- |
1 |
10-129914790-C-T |
c.365G>A |
p.R122H |
Missense |
6/15 |
- |
7 |
10-129914792-T-C |
c.363A>G |
p.A121= |
Synonymous |
6/15 |
- |
1 |
10-129914793-G-T |
c.362C>A |
p.A121E |
Missense |
6/15 |
- |
1 |
10-129914795-TG-AT |
c.359_360delinsAT |
p.P120H |
Missense |
6/15 |
- |
1 |
10-129914796-GG-TC |
c.358_359delinsGA |
p.P120E |
Missense |
6/15 |
- |
1 |
10-129914798-C-T |
c.357G>A |
p.E119= |
Synonymous |
6/15 |
- |
2 |
10-129914800-C-A |
c.355G>T |
p.E119* |
Nonsense |
6/15 |
- |
1 |
10-129914900-A-G |
c.355-100T>C |
- |
IntronicSNV |
- |
5/14 |
1 |
10-129917471-C-T |
c.354+46G>A |
- |
IntronicSNV |
- |
5/14 |
1 |
10-129917517-C-A |
c.354G>T |
p.Q118H |
Missense |
5/15 |
- |
3 |
10-129917517-C-T |
c.354G>A |
p.Q118= |
Synonymous |
5/15 |
- |
1 |
10-129917521-T-G |
c.350A>C |
p.E117A |
Missense |
5/15 |
- |
1 |
10-129917522-C-T |
c.349G>A |
p.E117K |
Missense |
5/15 |
- |
2 |
10-129917523-A-C |
c.348T>G |
p.R116= |
Synonymous |
5/15 |
- |
1 |
10-129917523-ACG-CCA |
c.346_348delinsTGG |
p.R116W |
Missense |
5/15 |
- |
1 |
10-129917523-A-G |
c.348T>C |
p.R116= |
Synonymous |
5/15 |
- |
1 |
10-129917523-A-T |
c.348T>A |
p.R116= |
Synonymous |
5/15 |
- |
1 |
10-129917524-C-T |
c.347G>A |
p.R116H |
Missense |
5/15 |
- |
3 |
10-129917528-T-C |
c.343A>G |
p.I115V |
Missense |
5/15 |
- |
1 |
10-129917531-T-C |
c.340A>G |
p.K114E |
Missense |
5/15 |
- |
1 |
10-129917531-T-G |
c.340A>C |
p.K114Q |
Missense |
5/15 |
- |
1 |
10-129917533-CT-TG |
c.337_338delinsCA |
p.R113Q |
Missense |
5/15 |
- |
1 |
10-129917538-A-G |
c.333T>C |
p.F111= |
Synonymous |
5/15 |
- |
1 |
10-129917538-A-C |
c.333T>G |
p.F111L |
Missense |
5/15 |
- |
1 |
10-129917538-A-T |
c.333T>A |
p.F111L |
Missense |
5/15 |
- |
1 |
10-129917540-A-G |
c.331T>C |
p.F111L |
Missense |
5/15 |
- |
1 |
10-129917545-GT-CC |
c.325_326delinsGG |
p.T109G |
Missense |
5/15 |
- |
1 |
10-129917548-G-A |
c.323C>T |
p.S108L |
Missense |
5/15 |
- |
1 |
10-129917550-C-A |
c.321G>T |
p.K107N |
Missense |
5/15 |
- |
1 |
10-129917553-CCT-ACA |
c.316_318delinsTGT |
p.R106C |
Missense |
5/15 |
- |
1 |
10-129917553-C-T |
c.318G>A |
p.R106= |
Synonymous |
5/15 |
- |
1 |
10-129917554-C-T |
c.317G>A |
p.R106K |
Missense |
5/15 |
- |
1 |
10-129917554-CT-GC |
c.316_317delinsGC |
p.R106A |
Missense |
5/15 |
- |
1 |
10-129917554-CT-TG |
c.316_317delinsCA |
p.R106Q |
Missense |
5/15 |
- |
1 |
10-129917557-C-A |
c.314G>T |
p.G105V |
Missense |
5/15 |
- |
1 |
10-129917557-C-T |
c.314G>A |
p.G105E |
Missense |
5/15 |
- |
1 |
10-129917559-A-G |
c.312T>C |
p.N104= |
Synonymous |
5/15 |
- |
1 |
10-129917560-T-C |
c.311A>G |
p.N104S |
Missense |
5/15 |
- |
47 |
10-129917565-A-G |
c.306T>C |
p.L102= |
Synonymous |
5/15 |
- |
1 |
10-129917567-G-A |
c.304C>T |
p.L102F |
Missense |
5/15 |
- |
1 |
10-129917568-A-C |
c.303T>G |
p.S101R |
Missense |
5/15 |
- |
1 |
10-129917568-A-T |
c.303T>A |
p.S101R |
Missense |
5/15 |
- |
1 |
10-129917570-T-G |
c.301A>C |
p.S101R |
Missense |
5/15 |
- |
1 |
10-129917569-C-G |
c.302G>C |
p.S101T |
Missense |
5/15 |
- |
1 |
10-129917569-C-T |
c.302G>A |
p.S101N |
Missense |
5/15 |
- |
1 |
10-129917570-T-C |
c.301A>G |
p.S101G |
Missense |
5/15 |
- |
1 |
10-129917571-T-C |
c.300A>G |
p.E100= |
Synonymous |
5/15 |
- |
1 |
10-129917572-T-C |
c.299A>G |
p.E100G |
Missense |
5/15 |
- |
1 |
10-129917572-T-G |
c.299A>C |
p.E100A |
Missense |
5/15 |
- |
1 |
10-129917573-C-A |
c.298G>T |
p.E100* |
Nonsense |
5/15 |
- |
1 |
10-129917577-T-A |
c.294A>T |
p.E98D |
Missense |
5/15 |
- |
3 |
10-129917577-T-G |
c.294A>C |
p.E98D |
Missense |
5/15 |
- |
3 |
10-129917578-T-G |
c.293A>C |
p.E98A |
Missense |
5/15 |
- |
1 |
10-129917579-C-T |
c.292G>A |
p.E98K |
Missense |
5/15 |
- |
1 |
10-129917580-A-G |
c.291T>C |
p.Y97= |
Synonymous |
5/15 |
- |
1 |
10-129917670-A-G |
c.288-87T>C |
- |
IntronicSNV |
- |
4/14 |
1 |
10-129921144-C-A |
c.287+1G>T |
- |
IntronicSNV |
- |
4/14 |
1 |
10-129921144-C-T |
c.287+1G>A |
- |
IntronicSNV |
- |
4/14 |
1 |
10-129921145-C-G |
c.287G>C |
p.R96T |
Missense |
4/15 |
- |
1 |
10-129921145-CT-GC |
c.286_287delinsGC |
p.R96A |
Missense |
4/15 |
- |
1 |
10-129921147-G-A |
c.285C>T |
p.F95= |
Synonymous |
4/15 |
- |
1 |
10-129921150-G-A |
c.282C>T |
p.S94= |
Synonymous |
4/15 |
- |
1 |
10-129921151-G-A |
c.281C>T |
p.S94F |
Missense |
4/15 |
- |
1 |
10-129921152-A-C |
c.280T>G |
p.S94A |
Missense |
4/15 |
- |
5 |
10-129921152-A-G |
c.280T>C |
p.S94P |
Missense |
4/15 |
- |
1 |
10-129921153-A-C |
c.279T>G |
p.R93= |
Synonymous |
4/15 |
- |
1 |
10-129921153-ACG-CCA |
c.277_279delinsTGG |
p.R93W |
Missense |
4/15 |
- |
1 |
10-129921153-A-G |
c.279T>C |
p.R93= |
Synonymous |
4/15 |
- |
1 |
10-129921153-A-T |
c.279T>A |
p.R93= |
Synonymous |
4/15 |
- |
1 |
10-129921155-CG-C |
c.277del |
p.R93Vfs*119 |
Frameshift |
4/15 |
- |
1 |
10-129921155-G-A |
c.277C>T |
p.R93C |
Missense |
4/15 |
- |
6 |
10-129921158-C-T |
c.274G>A |
p.D92N |
Missense |
4/15 |
- |
1 |
10-129921165-AG-CA |
c.266_267delinsTG |
p.T89M |
Missense |
4/15 |
- |
1 |
10-129921166-G-C |
c.266C>G |
p.T89S |
Missense |
4/15 |
- |
1 |
10-129921166-GT-CC |
c.265_266delinsGG |
p.T89G |
Missense |
4/15 |
- |
2 |
10-129921167-T-A |
c.265A>T |
p.T89S |
Missense |
4/15 |
- |
1 |
10-129921167-T-C |
c.265A>G |
p.T89A |
Missense |
4/15 |
- |
1 |
10-129921168-TAT-ATG |
c.262_264delinsCAT |
p.I88H |
Missense |
4/15 |
- |
1 |
10-129921170-T-C |
c.262A>G |
p.I88V |
Missense |
4/15 |
- |
1 |
10-129921173-C-T |
c.259G>A |
p.V87I |
Missense |
4/15 |
- |
1 |
10-129921174-A-C |
c.258T>G |
p.D86E |
Missense |
4/15 |
- |
1 |
10-129921174-A-G |
c.258T>C |
p.D86= |
Synonymous |
4/15 |
- |
1 |
10-129921174-A-T |
c.258T>A |
p.D86E |
Missense |
4/15 |
- |
1 |
10-129921176-C-T |
c.256G>A |
p.D86N |
Missense |
4/15 |
- |
1 |
10-129921178-C-A |
c.254G>T |
p.G85V |
Missense |
4/15 |
- |
1 |
10-129921178-C-G |
c.254G>C |
p.G85A |
Missense |
4/15 |
- |
2 |
10-129921179-C-G |
c.253G>C |
p.G85R |
Missense |
4/15 |
- |
1 |
10-129921179-C-T |
c.253G>A |
p.G85R |
Missense |
4/15 |
- |
2 |
10-129921181-T-A |
c.251A>T |
p.H84L |
Missense |
4/15 |
- |
3 |
10-129921182-G-A |
c.250C>T |
p.H84Y |
Missense |
4/15 |
- |
1 |
10-129921186-T-A |
c.246A>T |
p.L82= |
Synonymous |
4/15 |
- |
1 |
10-129921186-TAG-CCA |
c.244_246delinsTGG |
p.L82W |
Missense |
4/15 |
- |
1 |
10-129921186-T-C |
c.246A>G |
p.L82= |
Synonymous |
4/15 |
- |
1 |
10-129921186-T-G |
c.246A>C |
p.L82= |
Synonymous |
4/15 |
- |
1 |
10-129921188-G-A |
c.244C>T |
p.L82= |
Synonymous |
4/15 |
- |
1 |
10-129921187-A-T |
c.245T>A |
p.L82Q |
Missense |
4/15 |
- |
1 |
10-129921189-CCG-GTC |
c.241_243delinsGAC |
p.R81D |
Missense |
4/15 |
- |
1 |
10-129921190-CG-TT |
c.241_242delinsAA |
p.R81K |
Missense |
4/15 |
- |
1 |
10-129921190-C-T |
c.242G>A |
p.R81Q |
Missense |
4/15 |
- |
2 |
10-129921191-G-A |
c.241C>T |
p.R81W |
Missense |
4/15 |
- |
4 |
10-129921192-T-A |
c.240A>T |
p.V80= |
Synonymous |
4/15 |
- |
1 |
10-129921192-T-C |
c.240A>G |
p.V80= |
Synonymous |
4/15 |
- |
1 |
10-129921192-T-G |
c.240A>C |
p.V80= |
Synonymous |
4/15 |
- |
1 |
10-129921195-A-T |
c.237T>A |
p.P79= |
Synonymous |
4/15 |
- |
7 |
10-129921196-GG-CC |
c.235_236inv |
p.P79G |
Missense |
4/15 |
- |
1 |
10-129921196-G-T |
c.236C>A |
p.P79H |
Missense |
4/15 |
- |
3 |
10-129921197-G-A |
c.235C>T |
p.P79S |
Missense |
4/15 |
- |
1 |
10-129921198-C-A |
c.234G>T |
p.E78D |
Missense |
4/15 |
- |
1 |
10-129921203-C-G |
c.229G>C |
p.D77H |
Missense |
4/15 |
- |
2 |
10-129921205-A-G |
c.227T>C |
p.I76T |
Missense |
4/15 |
- |
1 |
10-129921206-T-C |
c.226A>G |
p.I76V |
Missense |
4/15 |
- |
1 |
10-129921208-A-G |
c.224T>C |
p.V75A |
Missense |
4/15 |
- |
5 |
10-129921209-C-G |
c.223G>C |
p.V75L |
Missense |
4/15 |
- |
1 |
10-129921209-C-T |
c.223G>A |
p.V75I |
Missense |
4/15 |
- |
1 |
10-129921211-G-A |
c.221C>T |
p.S74F |
Missense |
4/15 |
- |
1 |
10-129921213-C-T |
c.219G>A |
p.G73= |
Synonymous |
4/15 |
- |
1 |
10-129921217-TT-GC |
c.214_215delinsGC |
p.N72A |
Missense |
4/15 |
- |
1 |
10-129921218-T-C |
c.214A>G |
p.N72D |
Missense |
4/15 |
- |
9 |
10-129921218-T-TA |
c.213_214insT |
p.N72* |
Nonsense |
4/15 |
- |
1 |
10-129921220-A-G |
c.212T>C |
p.V71A |
Missense |
4/15 |
- |
1 |
10-129921221-C-T |
c.211G>A |
p.V71I |
Missense |
4/15 |
- |
1 |
10-129921223-T-A |
c.209A>T |
p.Q70L |
Missense |
4/15 |
- |
2 |
10-129921225-TG-CA |
c.206_207inv |
p.T69M |
Missense |
4/15 |
- |
1 |
10-129921226-G-A |
c.206C>T |
p.T69I |
Missense |
4/15 |
- |
1 |
10-129921227-T-G |
c.205A>C |
p.T69P |
Missense |
4/15 |
- |
1 |
10-129921230-G-A |
c.202C>T |
p.P68S |
Missense |
4/15 |
- |
2 |
10-129921232-T-A |
c.200A>T |
p.N67I |
Missense |
4/15 |
- |
1 |
10-129921232-T-C |
c.200A>G |
p.N67S |
Missense |
4/15 |
- |
1 |
10-129921233-T-G |
c.199A>C |
p.N67H |
Missense |
4/15 |
- |
1 |
10-129921234-T-A |
c.198A>T |
p.T66= |
Synonymous |
4/15 |
- |
1 |
10-129921234-T-C |
c.198A>G |
p.T66= |
Synonymous |
4/15 |
- |
1 |
10-129921234-T-G |
c.198A>C |
p.T66= |
Synonymous |
4/15 |
- |
1 |
10-129921238-GA-TT |
c.193_194delinsAA |
p.S65N |
Missense |
4/15 |
- |
1 |
10-129921238-G-C |
c.194C>G |
p.S65C |
Missense |
4/15 |
- |
2 |
10-129921239-A-C |
c.193T>G |
p.S65A |
Missense |
4/15 |
- |
2 |
10-129921239-A-T |
c.193T>A |
p.S65T |
Missense |
4/15 |
- |
2 |
10-129921244-AA-GC |
c.187_188delinsGC |
p.F63A |
Missense |
4/15 |
- |
1 |
10-129921243-G-C |
c.189C>G |
p.F63L |
Missense |
4/15 |
- |
1 |
10-129921243-G-T |
c.189C>A |
p.F63L |
Missense |
4/15 |
- |
1 |
10-129921245-A-G |
c.187T>C |
p.F63L |
Missense |
4/15 |
- |
1 |
10-129921249-A-G |
c.183T>C |
p.H61= |
Synonymous |
4/15 |
- |
1 |
10-129921250-T-A |
c.182A>T |
p.H61L |
Missense |
4/15 |
- |
2 |
10-129921250-T-C |
c.182A>G |
p.H61R |
Missense |
4/15 |
- |
1 |
10-129921251-G-A |
c.181C>T |
p.H61Y |
Missense |
4/15 |
- |
2 |
10-129921251-G-T |
c.181C>A |
p.H61N |
Missense |
4/15 |
- |
1 |
10-129921257-T-C |
c.175A>G |
p.I59V |
Missense |
4/15 |
- |
3 |
10-129921258-T-A |
c.174A>T |
p.A58= |
Synonymous |
4/15 |
- |
1 |
10-129921258-T-C |
c.174A>G |
p.A58= |
Synonymous |
4/15 |
- |
1 |
10-129921258-T-G |
c.174A>C |
p.A58= |
Synonymous |
4/15 |
- |
1 |
10-129921258-TGC-ACA |
c.172_174delinsTGT |
p.A58C |
Missense |
4/15 |
- |
1 |
10-129921259-G-T |
c.173C>A |
p.A58E |
Missense |
4/15 |
- |
1 |
10-129921352-CACCTCCTGCTCATGGATTTCAATTTTGCAATGTTGTTTTGACACAACAGGAAGCTGGAT-C |
c.115_171+2del |
- |
Multi:SpliceDonorDeletion,CdsStartDeletion |
3/15 |
- |
1 |
10-129921355-CTC-AAA |
c.169_171delinsTTT |
p.E57F |
Missense |
3/15 |
- |
1 |
10-129921357-C-G |
c.169G>C |
p.E57Q |
Missense |
3/15 |
- |
1 |
10-129921358-C-A |
c.168G>T |
p.Q56H |
Missense |
3/15 |
- |
1 |
10-129921359-T-C |
c.167A>G |
p.Q56R |
Missense |
3/15 |
- |
2 |
10-129921359-T-G |
c.167A>C |
p.Q56P |
Missense |
3/15 |
- |
1 |
10-129921361-C-A |
c.165G>T |
p.E55D |
Missense |
3/15 |
- |
1 |
10-129921361-C-G |
c.165G>C |
p.E55D |
Missense |
3/15 |
- |
1 |
10-129921361-CTC-ACA |
c.163_165delinsTGT |
p.E55C |
Missense |
3/15 |
- |
1 |
10-129921362-T-C |
c.164A>G |
p.E55G |
Missense |
3/15 |
- |
1 |
10-129921365-T-C |
c.161A>G |
p.H54R |
Missense |
3/15 |
- |
1 |
10-129921367-G-A |
c.159C>T |
p.I53= |
Synonymous |
3/15 |
- |
1 |
10-129921369-T-C |
c.157A>G |
p.I53V |
Missense |
3/15 |
- |
1 |
10-129921370-T-A |
c.156A>T |
p.E52D |
Missense |
3/15 |
- |
1 |
10-129921370-T-G |
c.156A>C |
p.E52D |
Missense |
3/15 |
- |
1 |
10-129921370-TTTC-T |
c.154_156del |
p.E52del |
InFrameDeletion |
3/15 |
- |
1 |
10-129921372-C-T |
c.154G>A |
p.E52K |
Missense |
3/15 |
- |
1 |
10-129921375-T-A |
c.151A>T |
p.I51F |
Missense |
3/15 |
- |
1 |
10-129921376-T-A |
c.150A>T |
p.K50N |
Missense |
3/15 |
- |
2 |
10-129921376-T-G |
c.150A>C |
p.K50N |
Missense |
3/15 |
- |
2 |
10-129921377-T-C |
c.149A>G |
p.K50R |
Missense |
3/15 |
- |
1 |
10-129921380-C-A |
c.146G>T |
p.C49F |
Missense |
3/15 |
- |
1 |
10-129921382-A-C |
c.144T>G |
p.H48Q |
Missense |
3/15 |
- |
2 |
10-129921382-A-T |
c.144T>A |
p.H48Q |
Missense |
3/15 |
- |
1 |
10-129921383-T-C |
c.143A>G |
p.H48R |
Missense |
3/15 |
- |
2 |
10-129921385-T-C |
c.141A>G |
p.Q47= |
Synonymous |
3/15 |
- |
1 |
10-129921386-T-C |
c.140A>G |
p.Q47R |
Missense |
3/15 |
- |
2 |
10-129921389-T-A |
c.137A>T |
p.K46I |
Missense |
3/15 |
- |
1 |
10-129921389-TT-GC |
c.136_137delinsGC |
p.K46A |
Missense |
3/15 |
- |
1 |
10-129921391-T-A |
c.135A>T |
p.S45= |
Synonymous |
3/15 |
- |
1 |
10-129921391-T-C |
c.135A>G |
p.S45= |
Synonymous |
3/15 |
- |
1 |
10-129921391-T-G |
c.135A>C |
p.S45= |
Synonymous |
3/15 |
- |
1 |
10-129921391-TG-AA |
c.134_135delinsTT |
p.S45F |
Missense |
3/15 |
- |
3 |
10-129921391-TGA-GTC |
c.133_135delinsGAC |
p.S45D |
Missense |
3/15 |
- |
1 |
10-129921391-TG-AT |
c.134_135delinsAT |
p.S45Y |
Missense |
3/15 |
- |
4 |
10-129921392-GA-CC |
c.133_134delinsGG |
p.S45G |
Missense |
3/15 |
- |
1 |
10-129921392-GA-TC |
c.133_134inv |
p.S45E |
Missense |
3/15 |
- |
1 |
10-129921392-G-C |
c.134C>G |
p.S45* |
Nonsense |
3/15 |
- |
1 |
10-129921392-G-T |
c.134C>A |
p.S45* |
Nonsense |
3/15 |
- |
1 |
10-129921393-A-C |
c.133T>G |
p.S45A |
Missense |
3/15 |
- |
2 |
10-129921393-A-G |
c.133T>C |
p.S45P |
Missense |
3/15 |
- |
2 |
10-129921393-A-T |
c.133T>A |
p.S45T |
Missense |
3/15 |
- |
1 |
10-129921394-C-A |
c.132G>T |
p.V44= |
Synonymous |
3/15 |
- |
1 |
10-129921394-C-G |
c.132G>C |
p.V44= |
Synonymous |
3/15 |
- |
1 |
10-129921394-C-T |
c.132G>A |
p.V44= |
Synonymous |
3/15 |
- |
1 |
10-129921395-A-G |
c.131T>C |
p.V44A |
Missense |
3/15 |
- |
1 |
10-129921397-A-C |
c.129T>G |
p.V43= |
Synonymous |
3/15 |
- |
1 |
10-129921397-A-G |
c.129T>C |
p.V43= |
Synonymous |
3/15 |
- |
1 |
10-129921397-A-T |
c.129T>A |
p.V43= |
Synonymous |
3/15 |
- |
1 |
10-129921398-A-T |
c.128T>A |
p.V43D |
Missense |
3/15 |
- |
1 |
10-129921399-C-G |
c.127G>C |
p.V43L |
Missense |
3/15 |
- |
1 |
10-129921401-G-A |
c.125C>T |
p.P42L |
Missense |
3/15 |
- |
1 |
10-129921402-G-C |
c.124C>G |
p.P42A |
Missense |
3/15 |
- |
1 |
10-129921405-G-A |
c.121C>T |
p.L41F |
Missense |
3/15 |
- |
1 |
10-129921406-CTG-ATA |
c.118_120delinsTAT |
p.Q40Y |
Missense |
3/15 |
- |
1 |
10-129921412-ACG-CTT |
c.112_114delinsAAG |
p.R38K |
Missense |
3/15 |
- |
1 |
10-129921412-AC-TT |
c.113_114delinsAA |
p.R38Q |
Missense |
3/15 |
- |
1 |
10-129921413-CG-TC |
c.112_113delinsGA |
p.R38D |
Missense |
3/15 |
- |
1 |
10-129921413-C-T |
c.113G>A |
p.R38H |
Missense |
3/15 |
- |
4 |
10-129921414-G-A |
c.112C>T |
p.R38C |
Missense |
3/15 |
- |
3 |
10-129921414-G-C |
c.112C>G |
p.R38G |
Missense |
3/15 |
- |
1 |
10-129921415-G-A |
c.111C>T |
p.I37= |
Synonymous |
3/15 |
- |
4 |
10-129921415-GAT-TTA |
c.109_111delinsTAA |
p.I37* |
Nonsense |
3/15 |
- |
1 |
10-129921415-G-T |
c.111C>A |
p.I37= |
Synonymous |
3/15 |
- |
3 |
10-129921418-G-C |
c.108C>G |
p.D36E |
Missense |
3/15 |
- |
1 |
10-129921418-G-T |
c.108C>A |
p.D36E |
Missense |
3/15 |
- |
1 |
10-129921419-TC-AA |
c.106_107delinsTT |
p.D36F |
Missense |
3/15 |
- |
1 |
10-129921419-TC-CA |
c.106_107delinsTG |
p.D36C |
Missense |
3/15 |
- |
1 |
10-129921419-T-G |
c.107A>C |
p.D36A |
Missense |
3/15 |
- |
1 |
10-129921420-C-T |
c.106G>A |
p.D36N |
Missense |
3/15 |
- |
1 |
10-129921421-A-G |
c.105T>C |
p.C35= |
Synonymous |
3/15 |
- |
1 |
10-129921422-C-A |
c.104G>T |
p.C35F |
Missense |
3/15 |
- |
1 |
10-129921422-C-T |
c.104G>A |
p.C35Y |
Missense |
3/15 |
- |
1 |
10-129921428-A-T |
c.98T>A |
p.I33N |
Missense |
3/15 |
- |
1 |
10-129921430-A-C |
c.96T>G |
p.G32= |
Synonymous |
3/15 |
- |
1 |
10-129921430-A-G |
c.96T>C |
p.G32= |
Synonymous |
3/15 |
- |
1 |
10-129921430-A-T |
c.96T>A |
p.G32= |
Synonymous |
3/15 |
- |
1 |
10-129921607-G-T |
c.93-174C>A |
- |
IntronicSNV |
- |
2/14 |
1 |
10-129921652-G-A |
c.93-219C>T |
- |
IntronicSNV |
- |
2/14 |
1 |
10-129923709-C-T |
c.92+131G>A |
- |
IntronicSNV |
- |
2/14 |
1 |
10-129923718-G-A |
c.92+122C>T |
- |
IntronicSNV |
- |
2/14 |
2 |
10-129923766-C-G |
c.92+74G>C |
- |
IntronicSNV |
- |
2/14 |
1 |
10-129923840-CT-GC |
c.91_92delinsGC |
p.R31A |
Missense |
2/15 |
- |
1 |
10-129923841-T-C |
c.91A>G |
p.R31G |
Missense |
2/15 |
- |
1 |
10-129923843-C-A |
c.89G>T |
p.G30V |
Missense |
2/15 |
- |
1 |
10-129923843-C-G |
c.89G>C |
p.G30A |
Missense |
2/15 |
- |
1 |
10-129923843-C-T |
c.89G>A |
p.G30E |
Missense |
2/15 |
- |
1 |
10-129923844-C-A |
c.88G>T |
p.G30* |
Nonsense |
2/15 |
- |
1 |
10-129923846-A-C |
c.86T>G |
p.F29C |
Missense |
2/15 |
- |
1 |
10-129923846-A-G |
c.86T>C |
p.F29S |
Missense |
2/15 |
- |
1 |
10-129923845-A-C |
c.87T>G |
p.F29L |
Missense |
2/15 |
- |
1 |
10-129923845-A-T |
c.87T>A |
p.F29L |
Missense |
2/15 |
- |
1 |
10-129923847-A-G |
c.85T>C |
p.F29L |
Missense |
2/15 |
- |
1 |
10-129923849-AA-TC |
c.82_83delinsGA |
p.L28E |
Missense |
2/15 |
- |
1 |
10-129923848-CA-C |
c.83del |
p.L28Cfs*44 |
Frameshift |
2/15 |
- |
1 |
10-129923851-G-T |
c.81C>A |
p.C27* |
Nonsense |
2/15 |
- |
1 |
10-129923852-C-T |
c.80G>A |
p.C27Y |
Missense |
2/15 |
- |
2 |
10-129923853-A-T |
c.79T>A |
p.C27S |
Missense |
2/15 |
- |
1 |
10-129923855-G-A |
c.77C>T |
p.T26I |
Missense |
2/15 |
- |
2 |
10-129923857-G-A |
c.75C>T |
p.S25= |
Synonymous |
2/15 |
- |
1 |
10-129923858-CT-GC |
c.73_74delinsGC |
p.S25A |
Missense |
2/15 |
- |
1 |
10-129923858-CT-TC |
c.73_74delinsGA |
p.S25D |
Missense |
2/15 |
- |
2 |
10-129923859-T-A |
c.73A>T |
p.S25C |
Missense |
2/15 |
- |
1 |
10-129923862-G-A |
c.70C>T |
p.L24F |
Missense |
2/15 |
- |
1 |
10-129923863-G-C |
c.69C>G |
p.S23R |
Missense |
2/15 |
- |
5 |
10-129923863-G-T |
c.69C>A |
p.S23R |
Missense |
2/15 |
- |
5 |
10-129923865-T-G |
c.67A>C |
p.S23R |
Missense |
2/15 |
- |
4 |
10-129923864-C-T |
c.68G>A |
p.S23N |
Missense |
2/15 |
- |
1 |
10-129923864-CT-GC |
c.67_68delinsGC |
p.S23A |
Missense |
2/15 |
- |
4 |
10-129923864-CT-TC |
c.67_68delinsGA |
p.S23D |
Missense |
2/15 |
- |
1 |
10-129923866-C-T |
c.66G>A |
p.L22= |
Synonymous |
2/15 |
- |
1 |
10-129923867-A-G |
c.65T>C |
p.L22P |
Missense |
2/15 |
- |
2 |
10-129923867-AG-TA |
c.64_65delinsTA |
p.L22* |
Nonsense |
2/15 |
- |
1 |
10-129923868-G-T |
c.64C>A |
p.L22M |
Missense |
2/15 |
- |
1 |
10-129923869-G-A |
c.63C>T |
p.P21= |
Synonymous |
2/15 |
- |
3 |
10-129923869-G-C |
c.63C>G |
p.P21= |
Synonymous |
2/15 |
- |
3 |
10-129923869-GGG-CTC |
c.61_63delinsGAG |
p.P21E |
Missense |
2/15 |
- |
1 |
10-129923869-GGG-TTA |
c.61_63delinsTAA |
p.P21* |
Nonsense |
2/15 |
- |
3 |
10-129923869-G-T |
c.63C>A |
p.P21= |
Synonymous |
2/15 |
- |
3 |
10-129923870-G-A |
c.62C>T |
p.P21L |
Missense |
2/15 |
- |
1 |
10-129923870-G-C |
c.62C>G |
p.P21R |
Missense |
2/15 |
- |
1 |
10-129923870-GG-AA |
c.61_62delinsTT |
p.P21F |
Missense |
2/15 |
- |
1 |
10-129923870-GG-AC |
c.61_62delinsGT |
p.P21V |
Missense |
2/15 |
- |
1 |
10-129923870-GG-CA |
c.61_62delinsTG |
p.P21C |
Missense |
2/15 |
- |
2 |
10-129923870-GG-TC |
c.61_62delinsGA |
p.P21D |
Missense |
2/15 |
- |
1 |
10-129923870-GG-TT |
c.61_62delinsAA |
p.P21N |
Missense |
2/15 |
- |
3 |
10-129923871-G-A |
c.61C>T |
p.P21S |
Missense |
2/15 |
- |
1 |
10-129923871-G-C |
c.61C>G |
p.P21A |
Missense |
2/15 |
- |
5 |
10-129923871-G-T |
c.61C>A |
p.P21T |
Missense |
2/15 |
- |
1 |
10-129923872-A-G |
c.60T>C |
p.F20= |
Synonymous |
2/15 |
- |
2 |
10-129923875-GTG-CAT |
c.55_57delinsATG |
p.H19M |
Missense |
2/15 |
- |
1 |
10-129923875-GTG-TTA |
c.55_57delinsTAA |
p.H19* |
Nonsense |
2/15 |
- |
1 |
10-129923876-T-C |
c.56A>G |
p.H19R |
Missense |
2/15 |
- |
2 |
10-129923876-TG-AT |
c.55_56delinsAT |
p.H19I |
Missense |
2/15 |
- |
1 |
10-129923876-TG-CA |
c.55_56inv |
p.H19C |
Missense |
2/15 |
- |
1 |
10-129923876-TG-GC |
c.55_56delinsGC |
p.H19A |
Missense |
2/15 |
- |
2 |
10-129923878-G-A |
c.54C>T |
p.P18= |
Synonymous |
2/15 |
- |
1 |
10-129923878-G-C |
c.54C>G |
p.P18= |
Synonymous |
2/15 |
- |
1 |
10-129923878-G-T |
c.54C>A |
p.P18= |
Synonymous |
2/15 |
- |
1 |
10-129923879-G-A |
c.53C>T |
p.P18L |
Missense |
2/15 |
- |
2 |
10-129923881-A-C |
c.51T>G |
p.G17= |
Synonymous |
2/15 |
- |
1 |
10-129923881-A-G |
c.51T>C |
p.G17= |
Synonymous |
2/15 |
- |
1 |
10-129923882-C-A |
c.50G>T |
p.G17V |
Missense |
2/15 |
- |
1 |
10-129923882-C-T |
c.50G>A |
p.G17D |
Missense |
2/15 |
- |
1 |
10-129923883-C-T |
c.49G>A |
p.G17S |
Missense |
2/15 |
- |
2 |
10-129923884-G-A |
c.48C>T |
p.D16= |
Synonymous |
2/15 |
- |
1 |
10-129923885-T-A |
c.47A>T |
p.D16V |
Missense |
2/15 |
- |
6 |
10-129923885-T-C |
c.47A>G |
p.D16G |
Missense |
2/15 |
- |
1 |
10-129923885-TC-CA |
c.46_47delinsTG |
p.D16C |
Missense |
2/15 |
- |
1 |
10-129923885-T-G |
c.47A>C |
p.D16A |
Missense |
2/15 |
- |
1 |
10-129923886-C-T |
c.46G>A |
p.D16N |
Missense |
2/15 |
- |
1 |
10-129923887-G-A |
c.45C>T |
p.V15= |
Synonymous |
2/15 |
- |
2 |
10-129923888-A-C |
c.44T>G |
p.V15G |
Missense |
2/15 |
- |
1 |
10-129923888-A-G |
c.44T>C |
p.V15A |
Missense |
2/15 |
- |
1 |
10-129923889-C-T |
c.43G>A |
p.V15I |
Missense |
2/15 |
- |
1 |
10-129923890-CCC-GAT |
c.40_42delinsATC |
p.G14I |
Missense |
2/15 |
- |
1 |
10-129923890-CC-GT |
c.41_42delinsAC |
p.G14D |
Missense |
2/15 |
- |
1 |
10-129923890-C-G |
c.42G>C |
p.G14= |
Synonymous |
2/15 |
- |
1 |
10-129923891-C-A |
c.41G>T |
p.G14V |
Missense |
2/15 |
- |
2 |
10-129923891-CC-GT |
c.40_41delinsAC |
p.G14T |
Missense |
2/15 |
- |
1 |
10-129923893-CGCT-C |
c.37_39del |
p.S13del |
InFrameDeletion |
2/15 |
- |
1 |
10-129923893-GCT-CTC |
c.37_39delinsGAG |
p.S13E |
Missense |
2/15 |
- |
9 |
10-129923894-C-T |
c.38G>A |
p.S13N |
Missense |
2/15 |
- |
1 |
10-129923894-CT-AA |
c.37_38delinsTT |
p.S13F |
Missense |
2/15 |
- |
7 |
10-129923894-CT-GC |
c.37_38delinsGC |
p.S13A |
Missense |
2/15 |
- |
64 |
10-129923894-CT-TC |
c.37_38delinsGA |
p.S13D |
Missense |
2/15 |
- |
20 |
10-129923894-CT-TG |
c.37_38delinsCA |
p.S13H |
Missense |
2/15 |
- |
1 |
10-129923895-T-A |
c.37A>T |
p.S13C |
Missense |
2/15 |
- |
29 |
10-129923895-T-C |
c.37A>G |
p.S13G |
Missense |
2/15 |
- |
4 |
10-129923896-CCT-ACA |
c.34_36delinsTGT |
p.R12C |
Missense |
2/15 |
- |
1 |
10-129923896-CCT-ATA |
c.34_36delinsTAT |
p.R12Y |
Missense |
2/15 |
- |
2 |
10-129923896-CCT-ATG |
c.34_36delinsCAT |
p.R12H |
Missense |
2/15 |
- |
2 |
10-129923897-C-A |
c.35G>T |
p.R12M |
Missense |
2/15 |
- |
1 |
10-129923897-C-G |
c.35G>C |
p.R12T |
Missense |
2/15 |
- |
2 |
10-129923897-C-T |
c.35G>A |
p.R12K |
Missense |
2/15 |
- |
1 |
10-129923898-T-G |
c.34A>C |
p.R12= |
Synonymous |
2/15 |
- |
1 |
10-129923900-T-C |
c.32A>G |
p.K11R |
Missense |
2/15 |
- |
6 |
10-129923901-T-C |
c.31A>G |
p.K11E |
Missense |
2/15 |
- |
1 |
10-129923903-AT-CA |
c.28_29delinsTG |
p.I10C |
Missense |
2/15 |
- |
1 |
10-129923907-T-C |
c.25A>G |
p.T9A |
Missense |
2/15 |
- |
2 |
10-129923911-C-A |
c.21G>T |
p.L7= |
Synonymous |
2/15 |
- |
1 |
10-129923911-CAG-AAA |
c.19_21delinsTTT |
p.L7F |
Missense |
2/15 |
- |
1 |
10-129923912-A-G |
c.20T>C |
p.L7P |
Missense |
2/15 |
- |
1 |
10-129923913-G-C |
c.19C>G |
p.L7V |
Missense |
2/15 |
- |
1 |
10-129923914-G-A |
c.18C>T |
p.R6= |
Synonymous |
2/15 |
- |
1 |
10-129923916-G-C |
c.16C>G |
p.R6G |
Missense |
2/15 |
- |
1 |
10-129923916-G-T |
c.16C>A |
p.R6S |
Missense |
2/15 |
- |
1 |
10-129923920-C-A |
c.12G>T |
p.T4= |
Synonymous |
2/15 |
- |
5 |
10-129923920-C-G |
c.12G>C |
p.T4= |
Synonymous |
2/15 |
- |
5 |
10-129923920-C-T |
c.12G>A |
p.T4= |
Synonymous |
2/15 |
- |
5 |
10-129923923-G-A |
c.9C>T |
p.P3= |
Synonymous |
2/15 |
- |
7 |
10-129923923-G-C |
c.9C>G |
p.P3= |
Synonymous |
2/15 |
- |
7 |
10-129923923-G-T |
c.9C>A |
p.P3= |
Synonymous |
2/15 |
- |
7 |
10-129923925-G-A |
c.7C>T |
p.P3S |
Missense |
2/15 |
- |
1 |
10-129923926-C-A |
c.6G>T |
p.W2C |
Missense |
2/15 |
- |
1 |
10-129923926-C-G |
c.6G>C |
p.W2C |
Missense |
2/15 |
- |
1 |
10-129923927-C-T |
c.5G>A |
p.W2* |
Nonsense |
2/15 |
- |
2 |
10-129923928-A-C |
c.4T>G |
p.W2G |
Missense |
2/15 |
- |
1 |
10-129923930-A-T |
c.2T>A |
p.M1? |
Missense |
2/15 |
- |
1 |
10-129923930-AT-TA |
c.1_2delinsTA |
p.M1? |
Nonsense |
2/15 |
- |
1 |
10-129924259-C-G |
c.-90+104G>C |
- |
intron_variant |
- |
1/14 |
1 |
10-129924516-T-C |
c.-243A>G |
- |
5_prime_UTR_variant |
1/15 |
- |
1 |