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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 FGFR3 P22607 p.Gly44Ser rs146080119 variant of unknown significance
Detail
0.77 (T)
0 (N)
N
2 FGFR3 P22607 p.Gly52Ser rs140087676 variant of unknown significance
Detail
0.75 (T)
0.606 (D)
N
3 FGFR3 P22607 p.Val57Met rs61735064 variant of unknown significance
Detail
0.11 (T)
0.761 (D)
N
4 FGFR3 P22607 p.Gly65Arg rs2305178 variant of unknown significance
Detail
0.35 (T)
0.001 (N)
N
5 FGFR3 P22607 p.Ser84Leu rs121913116 HYPOCHONDROPLASIA [MIM:134934#0032]
Detail
0.79 (T)
0.57 (D)
N
6 FGFR3 P22607 p.Pro91Leu rs144995231 variant of unknown significance
Detail
0.34 (T)
0.089 (N)
N
7 FGFR3 P22607 p.His101Pro rs80029045 variant of unknown significance
Detail
0.31 (T)
0 (N)
N
8 FGFR3 P22607 p.Ser130Phe rs113172184 variant of unknown significance
Detail
0.14 (T)
0.994 (D)
N
9 FGFR3 P22607 p.Thr242Met rs150916178 variant of unknown significance
1ry7
B
Detail
0.11 (T)
0.84 (D)
N
10 FGFR3 P22607 p.Arg248Cys rs121913482 Bladder cancer (BLC) [MIM:109800]
1ry7
B
Detail
0.18 (T)
1 (D)
N
11 FGFR3 P22607 p.Ser249Cys rs121913483 Bladder cancer (BLC) [MIM:109800]
1ry7
B
Detail
0.12 (T)
0.973 (D)
N
12 FGFR3 P22607 p.Pro250Arg rs4647924 Muenke syndrome (MNKS) [MIM:602849]
1ry7
B
Detail
0.57 (T)
0.6 (D)
N
13 FGFR3 P22607 p.Ala265Thr rs151254213 variant of unknown significance
1ry7
B
Detail
0.70 (T)
0.003 (N)
N
14 FGFR3 P22607 p.Tyr278Cys rs121913115 HYPOCHONDROPLASIA [MIM:134934#0031]
1ry7
B
Detail
0.19 (T)
0.989 (D)
N
15 FGFR3 P22607 p.Ser279Cys rs121913114 ACHONDROPLASIA [MIM:134934#0030]
1ry7
B
Detail
0.08 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 FGFR3 P22607 p.Glu322Lys rs121913111 COLORECTAL CANCER, SOMATIC [MIM:134934#0025]
1ry7
B
Detail
0.92 (T)
0.021 (N)
N
5 FGFR3 P22607 p.Val329Ile rs188723332 variant of unknown significance
1ry7
B
Detail
(-)
(-)
N
6 FGFR3 P22607 p.Thr338Met - variant of unknown significance
1ry7
B
Detail
0.24 (T)
0.935 (D)
D ( Predicted by rules : 1 )
3 FGFR3 P22607 p.Gly370Cys rs121913479 Bladder cancer (BLC) [MIM:109800]
Detail
0.19 (T)
0.002 (N)
N
4 FGFR3 P22607 p.Ser371Cys rs121913484 Keratosis seborrheic (KERSEB) [MIM:182000]
Detail
0.18 (T)
0.66 (D)
N
5 FGFR3 P22607 p.Tyr373Cys rs121913485 Keratosis seborrheic (KERSEB) [MIM:182000]
Detail
0.18 (T)
0.948 (D)
N
6 FGFR3 P22607 p.Gly375Cys rs121913097 Achondroplasia (ACH) [MIM:100800]
Detail
0.06 (T)
0.654 (D)
N
7 FGFR3 P22607 p.Gly380Arg rs28931614 Achondroplasia (ACH) [MIM:100800]
Detail
0.52 (T)
0.69 (D)
N
8 FGFR3 P22607 p.Val381Met rs149023204 variant of unknown significance
Detail
0.23 (T)
0.023 (N)
N
9 FGFR3 P22607 p.Phe383Cys rs11943863 variant of unknown significance
Detail
0.18 (T)
0 (N)
N
10 FGFR3 P22607 p.Phe384Leu rs17881656 variant of unknown significance
Detail
0.55 (T)
0 (N)
N
11 FGFR3 P22607 p.Ala391Glu rs28931615 Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247]
Detail
0.73 (T)
0.12 (N)
N
12 FGFR3 P22607 p.Arg416Cys rs146114742 variant of unknown significance
Detail
0.20 (T)
0.03 (N)
N
13 FGFR3 P22607 p.Asn428Ser rs138986264 variant of unknown significance
Detail
0.42 (T)
0.004 (N)
N
14 FGFR3 P22607 p.Ala429Thr rs182935140 variant of unknown significance
Detail
(-)
(-)
N
15 FGFR3 P22607 p.Pro436Leu rs142030909 variant of unknown significance
Detail
0.67 (T)
1 (D)
N
16 FGFR3 P22607 p.Ala441Thr rs17884368 variant of unknown significance
Detail
0.64 (T)
0 (N)
N
17 FGFR3 P22607 p.Pro449Ser rs61735104 variant of unknown significance
Detail
0.73 (T)
0.437 (N)
N
18 FGFR3 P22607 p.Thr450Met rs56240927 variant of unknown significance
Detail
0.11 (T)
0 (N)
N
19 FGFR3 P22607 p.Ala452Ser rs3135893 variant of unknown significance
Detail
0.76 (T)
0.026 (N)
N
20 FGFR3 P22607 p.Ala452Pro rs3135893 variant of unknown significance
Detail
0.31 (T)
0.002 (N)
N
21 FGFR3 P22607 p.Ser455Ala rs144242294 variant of unknown significance
Detail
0.80 (T)
0.183 (N)
N
22 FGFR3 P22607 p.Val505Ile rs144546453 variant of unknown significance
3gqi
A
Detail
0.01 (D)
0.998 (D)
D ( Predicted by rules : 1 )
3 FGFR3 P22607 p.Asp513Asn rs121913112 Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
3gqi
A
Detail
0.94 (T)
0.066 (N)
N
4 FGFR3 P22607 p.Lys517Arg rs139707740 variant of unknown significance
3gqi
A
Detail
0.64 (T)
0.628 (D)
N
5 FGFR3 P22607 p.Ile538Val rs121913108 Hypochondroplasia (HCH) [MIM:146000]
3gqi
A
Detail
0.58 (T)
0.614 (D)
N
6 FGFR3 P22607 p.Asn540Ser rs121913110 Hypochondroplasia (HCH) [MIM:146000]
3gqi
A
Detail
0.16 (T)
0.989 (D)
D ( Predicted by rules : 1 2 3 )
5 FGFR3 P22607 p.Asn540Lys rs28933068 Hypochondroplasia (HCH) [MIM:146000]
3gqi
A
Detail
0.17 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 FGFR3 P22607 p.Asn540Thr rs121913107 Hypochondroplasia (HCH) [MIM:146000]
3gqi
A
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 FGFR3 P22607 p.Ala569Val rs146672976 variant of unknown significance
3gqi
A
Detail
0.06 (T)
0.792 (D)
N
7 FGFR3 P22607 p.Pro584Leu rs145183329 variant of unknown significance
3gqi
A
Detail
0.40 (T)
0 (N)
D ( Predicted by rules : 1 )
3 FGFR3 P22607 p.Ala609Val rs142093553 variant of unknown significance
3gqi
A
Detail
0.01 (D)
0.998 (D)
N
4 FGFR3 P22607 p.Arg621His rs121913113 Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]
3gqi
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 FGFR3 P22607 p.Phe636Leu rs104886005 variant of unknown significance
3gqi
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 FGFR3 P22607 p.Asp646Asn - variant of unknown significance
3gqi
A
Detail
0.05 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 FGFR3 P22607 p.Lys649Gln rs28928869 variant of unknown significance
3gqi
A
Detail
0.23 (T)
1 (D)
N
5 FGFR3 P22607 p.Lys649Glu rs28928869 variant of unknown significance
3gqi
A
Detail
0.22 (T)
1 (D)
N
6 FGFR3 P22607 p.Lys650Asn rs28928868 HYPOCHONDROPLASIA [MIM:134934#0020]
3gqi
A
Detail
0.05 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 FGFR3 P22607 p.Lys650Met rs121913105 Achondroplasia (ACH) [MIM:100800]
3gqi
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 FGFR3 P22607 p.Lys650Gln rs78311289 Bladder cancer (BLC) [MIM:109800]
3gqi
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 FGFR3 P22607 p.Lys650Glu rs78311289 Keratosis seborrheic (KERSEB) [MIM:182000]
3gqi
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 FGFR3 P22607 p.Gly697Cys rs121913480 variant of unknown significance
3gqi
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 FGFR3 P22607 p.Gly710Val rs104886023 OVARIAN CANCER [MIM:167000#0000]
3gqi
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 FGFR3 P22607 p.Arg712His rs104886024 variant of unknown significance
3gqi
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 FGFR3 P22607 p.Ala717Thr rs17882190 variant of unknown significance
3gqi
A
Detail
0.47 (T)
0 (N)
N
4 FGFR3 P22607 p.Asn718Ser rs139773438 variant of unknown significance
3gqi
A
Detail
0.36 (T)
0 (N)
N
5 FGFR3 P22607 p.Ile726Phe rs17880763 variant of unknown significance
3gqi
A
Detail
0.07 (T)
0.953 (D)
N
6 FGFR3 P22607 p.Arg728Gln rs149924317 variant of unknown significance
3gqi
A
Detail
0.43 (T)
0.987 (D)
N
7 FGFR3 P22607 p.Ala734Thr rs188849608 variant of unknown significance
3gqi
A
Detail
(-)
(-)
N
8 FGFR3 P22607 p.Ser736Tyr rs148631462 variant of unknown significance
3gqi
A
Detail
0.05 (D)
0.799 (D)
N
9 FGFR3 P22607 p.Asp758Asn rs56266857 variant of unknown significance
3gqi
A
Detail
0.53 (T)
0.012 (N)
N
10 FGFR3 P22607 p.Ala765Val rs140211846 variant of unknown significance
Detail
0.56 (T)
0 (N)
N
11 FGFR3 P22607 p.Ser771Phe rs146869627 variant of unknown significance
Detail
0.08 (T)
0.999 (D)
N
12 FGFR3 P22607 p.Ser771Ala rs145245079 variant of unknown significance
Detail
0.76 (T)
0.992 (D)
N
13 FGFR3 P22607 p.Ser780Cys rs140616343 variant of unknown significance
Detail
0.05 (T)
0.947 (D)
N
14 FGFR3 P22607 p.Pro799Leu rs150452037 variant of unknown significance
Detail
0.77 (T)
(N)
N