MISSENSE SNPs (139)

Transcri.1
Sr.No. ID ALLELE MAF VALUE NP_001603.1
1 rs1477106327 C>T - Ala 94 thr
2 rs1467239665 A > G,T T = 0./0 His 88 Gln
G = 0.000004/1
T = 0.000008/2
3 rs1464660606 A>G G = 0./0 Met 196 Thr
G = 0.000004/1
4 rs1458459970 A > G,T T = 0./0 Cys 255 Arg/Ser
G = 0.000004/1
5 rs1440109173 G>C C = 0./0 Pro 139 Ala
C = 0.000004/1
C = 0.000008/2
6 rs143419509 A>G G = 0./0 Phe 44 Leu
G = 0.000004/1
7 rs1433737373 C>G G = 0.000008/2 Met 1 Ile
8 rs1411588983 C > A,T T = 0.000054/1 Glu 107 Ter/Lys
T = 0.000007/1
T = 0.000223/1
9 rs1389097980 G>A A = 0./0 His 88 tyr
A = 0.000004/1
A = 0.000007/1
10 rs1386027045 G>A A = 0.000007/1 Ser 85 Phe
A = 0.000012/3
11 rs1384958974 G>A A = 0./0 Ser 95 Leu
A = 0.000004/1
A = 0.000007/1
12 rs1384165511 G>A A = 0./0 His 32 Tyr
A = 0.000004/1
13 rs1377972213 G > C C = 0.000004/1 Gln 118 Glu
14 rs1368816923 G > A,C C = 0./0 Phe 192 Ilu/Arg
C = 0.000004/1
C = 0.000007/1
C = 0.000008/2
15 rs138522332 C > A,T T = 0./0 Gly 161 Cys/Ser
A = 0.000004/1
T = 0.000007/1
T = 0.000008/2
16 rs1354045635 C>G G = 0.000004/1 Gly 166 Arg
17 rs1342578932 T>C C = 0.000004/1 Ser 131 Gly
C = 0.000007/1
18 rs1341091699 T>C C = 0.000004/1 Met 242 Val
19 rs1333597593 C > G, T T = 0.000024/1 Glu 236 Asp
G = 0.000004/1
T = 0.000023/6
T = 0.000029/4
20 rs1331576080 C > G,T G = 0./0 Glu 172 Gln/Lys
T = 0.00011/2
T = 0.00034/1
21 rs1324134240 T>G G = 0.000008/2 Glu 87 Asp
22 rs1319992747 A>C C = 0./0 Ser 131 Arg
C = 0.000004/1
C = 0.000014/2
23 rs1319983611 T>G G = 0./0 Gln 37 Pro
G = 0.000004/1
G = 0.000007/1
24 rs1309608723 A>G G = 0./0 Tyr 195 His
G = 0.000007/1
25 rs1308808743 C>G G = 0.000111/1 Gly 136 Arg
G = 0.000004/1
26 rs1304652313 G>C C= 0.000004/1 Ser 183 Lys
C = 0.000007/1
27 rs1302257246 T>G G = 0./0 Glu 132 Ala
G = 0.000021/3
G = 0.000026/7
28 rs1271514479 A>T T = 0./0 Cys 190 Ser
T = 0.000007/1
T = 0.000008/2
29 rs1269967881 T>C C = 0.000004/1 Ser 71 Gly
30 rs1264554901 C>G G = 0.000004/1 Glu 42 Gln
31 rs1240632120 A > G,T G = 0.000004/1 Leu 133 Pro/His
32 rs1232171166 C>T T = 0./0 Gly 111 Asp
T = 0.000014/2
T = 0.00002/5
T = 0.00003/8
33 rs1220437594 A>G G = 0.000004/1 Met 238 Thr
34 rs1219959794 A>G G = 0.000004/1 Ser 50 Pro
35 rs1212375399 G > A,T A = 0.000004/1 Ser 15 Phe/Tyr
36 rS1200643055 C>T T = 0.000198/3 Gly 126 Glu
T = 0.000004/1
T = 0.000021/3
37 rs1199376123 T>C C = 0.000004/1 Ile 187 Met
38 rs1193653504 T>C C = 0./0 His 68 Arg
C = 0.000004/1
C = 0.000014/2
39 rs1186880699 C>T T = 0./0 Glu 72 Lys
 T = 0.000004/1
T = 0.000007/1
40 rs1186269088 G>A A = 0.000004/1 Ser 155 Phe
41 rs1173743263 G>A A = 0.000031/1 Leu 124 Phe
A = 0.000004/1
A = 0.000008/2
42 rs1012375246 A>G - Ser 59 Pro
43 rs1000387485 C >T T = 0./0 Gly 176 Asp
T = 0./0
44 rs
transcri.2 transc.3 transcri.4
NP_064454.1 NP_064492.1 NP_064493.1
Ala 94 thr - -
His 88 Gln

Met 177 Thr Met 141 Thr Met 126 Thr

Cys 236 Arg/Ser Cys 200 Arg/Ser Cys 185 Arg/Ser

Pro 139 Ala Pro 84 Ala Pro 69 Ala

Phe 44 Leu

Met 1 Ile Met 1 Ile Met 1 Ile

Glu 107 Ter/Lys Glu 52 Ter/Lys

His 88 tyr

Ser 85 Phe

Ser 95 Leu

His 32 Tyr His 32 Tyr His 32 Tyr

Gln 118 Glu Gln 63 Glu Gln 48 Glu

Phe 173 Ilu/Arg Phe 137 Ilu/Arg Phe 122 Ilu/Arg

Gly 161 Cys/Ser Gly 106 Cys/Ser Gly 91 Cys/Ser

Gly 166 Arg Gly 111 Arg Gly 96 Arg

Ser 131 Gly Ser 76 Gly Ser 61 Gly
Met 223 Val Met 187 Val Met 172 Val
Glu 217 Asp Glu 181 Asp Glu 166 Asp

- Glu 117 Gln/Lys Glu 102 Gln/Lys

Glu 87 Asp
Ser 131 Arg Ser 76 Arg Ser 61 Arg

Gln 37 Pro Gln 37 Pro Gln 37 Pro

Tyr 176 His Tyr 140 His Tyr 125 His

Gly 136 Arg Gly 81 Arg Gly 66 Arg

- Ser 128 Lys Ser 113 Lys

Glu 132 Ala Glu 77 Ala Glu 62 Ala

Cys 171 Ser Cys 135 Ser Cys 120 Ser

Ser 71 Gly
Glu 42 Gln
Leu 133 Pro/His Leu 78 Pro/His Leu 63 Pro/His
Gly 111 Asp Gly 56 Asp Gly 41 Asp

Met 219 Thr Met 183 Thr Met 168 Thr

Ser 50 Pro
Ser 15 Phe/Tyr Ser 15 Phe/Tyr Ser 15 Phe/Tyr
Gly 126 Glu Gly 71 Glu Gly 56 Glu

Ile 168 Met Ile 132 Met Ile 117 Met

His 68 Arg

Glu 72 Lys
Ser 155 Phe Ser 100 Phe Ser 85 Phe
Leu 124 Phe Leu 69 Phe Leu 54 Phe

Ser 59 Pro
Gly 121 Asp Gly 106 Asp