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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 ABCC8 Q09428 p.Gly7Arg - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.23 (T)
0.996 (D)
N
2 ABCC8 Q09428 p.Val21Asp - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.34 (T)
0.996 (D)
N
3 ABCC8 Q09428 p.Phe27Ser - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.43 (T)
0.962 (D)
N
4 ABCC8 Q09428 p.Gly70Glu - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.39 (T)
1 (D)
N
5 ABCC8 Q09428 p.Asn72Ser rs80356634 DIABETES MELLITUS, PERMANENT NEONATAL [MIM:600509#0021]
Detail
0.75 (T)
0.34 (N)
N
6 ABCC8 Q09428 p.Arg74Gln rs72559734 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.35 (T)
0.998 (D)
N
7 ABCC8 Q09428 p.Arg74Trp - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.19 (T)
1 (D)
N
8 ABCC8 Q09428 p.Leu77Val rs72559733 variant of unknown significance
Detail
0.56 (T)
0.999 (D)
N
9 ABCC8 Q09428 p.Leu77Arg rs72559732 variant of unknown significance
Detail
0.45 (T)
1 (D)
N
10 ABCC8 Q09428 p.Val86Ala rs80356635 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
Detail
0.73 (T)
0.95 (D)
N
11 ABCC8 Q09428 p.Val86Gly rs80356635 DIABETES MELLITUS, PERMANENT NEONATAL [MIM:600509#0026]
Detail
0.44 (T)
0.991 (D)
N
12 ABCC8 Q09428 p.Leu104Val rs10400391 variant of unknown significance
Detail
0.39 (T)
0.99 (D)
N
13 ABCC8 Q09428 p.Gly111Arg - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.36 (T)
0.906 (D)
N
14 ABCC8 Q09428 p.Met115Val rs146695489 variant of unknown significance
Detail
0.46 (T)
0 (N)
N
15 ABCC8 Q09428 p.Ala116Pro rs72559731 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.21 (T)
0.999 (D)
N
16 ABCC8 Q09428 p.Val118Ile rs144641450 variant of unknown significance
Detail
0.53 (T)
0 (N)
N
17 ABCC8 Q09428 p.His125Gln rs60637558 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.69 (T)
1 (D)
N
18 ABCC8 Q09428 p.Asn131Ser rs76030764 variant of unknown significance
Detail
0.40 (T)
0.996 (D)
N
19 ABCC8 Q09428 p.Phe132Leu rs80356637 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
Detail
0.64 (T)
0.95 (D)
N
20 ABCC8 Q09428 p.Phe132Val rs80356637 DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES [MIM:600509#0016]
Detail
0.49 (T)
0.982 (D)
N
21 ABCC8 Q09428 p.Leu135Pro rs80356639 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM [MIM:606176#0000]
Detail
0.25 (T)
1 (D)
N
22 ABCC8 Q09428 p.Phe157Leu rs1048098 variant of unknown significance
Detail
0.67 (T)
0.002 (N)
N
23 ABCC8 Q09428 p.Leu167Val rs1048096 variant of unknown significance
Detail
0.53 (T)
0.001 (N)
N
24 ABCC8 Q09428 p.Val187Asp rs137852672 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.64 (T)
0.143 (N)
N
25 ABCC8 Q09428 p.Asn188Ser - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.74 (T)
0.982 (D)
N
26 ABCC8 Q09428 p.Asp209Glu rs80356640 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM [MIM:606176#0000]
Detail
1.00 (T)
0.931 (D)
N
27 ABCC8 Q09428 p.Leu210Pro rs188669612 variant of unknown significance
Detail
(-)
(-)
N
28 ABCC8 Q09428 p.Leu210Gln rs188669612 variant of unknown significance
Detail
(-)
(-)
N
29 ABCC8 Q09428 p.Gln211Lys rs80356641 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM [MIM:606176#0000]
Detail
0.90 (T)
0.349 (N)
N
30 ABCC8 Q09428 p.Leu213Arg rs80356642 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
Detail
0.54 (T)
0.959 (D)
N
31 ABCC8 Q09428 p.Leu225Pro rs1048095 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM [MIM:606176#0000]
Detail
0.08 (T)
1 (D)
N
32 ABCC8 Q09428 p.Tyr230Cys rs140476117 variant of unknown significance
Detail
0.04 (D)
0.997 (D)
N
33 ABCC8 Q09428 p.Met233Arg - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.03 (D)
0.988 (D)
N
34 ABCC8 Q09428 p.Ala256Val rs1048094 variant of unknown significance
Detail
0.38 (T)
0.034 (N)
N
35 ABCC8 Q09428 p.Arg275Gln rs185040406 variant of unknown significance
Detail
0.64 (T)
0 (N)
N
36 ABCC8 Q09428 p.Phe295Ile rs142651082 variant of unknown significance
Detail
0.18 (T)
0.868 (D)
N
37 ABCC8 Q09428 p.Gly296Arg rs148529020 variant of unknown significance
Detail
0.69 (T)
0.965 (D)
N
38 ABCC8 Q09428 p.Arg298Cys rs144705160 variant of unknown significance
Detail
0.06 (T)
0.99 (D)
N
39 ABCC8 Q09428 p.Ala309Gly rs149347593 variant of unknown significance
Detail
0.53 (T)
0.039 (N)
N
40 ABCC8 Q09428 p.Asp310Asn - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.49 (T)
0.931 (D)
N
41 ABCC8 Q09428 p.Leu312Met rs72559729 variant of unknown significance
Detail
0.25 (T)
0.864 (D)
N
42 ABCC8 Q09428 p.Ala355Thr rs145136257 variant of unknown significance
Detail
0.01 (D)
0.595 (D)
N
43 ABCC8 Q09428 p.Tyr356Cys rs59852838 variant of unknown significance
Detail
0.06 (T)
1 (D)
N
44 ABCC8 Q09428 p.Glu382Lys rs80356651 DIABETES MELLITUS, PERMANENT NEONATAL [MIM:600509#0022]
Detail
0.66 (T)
0.092 (N)
N
45 ABCC8 Q09428 p.Asn406Asp rs72559728 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.63 (T)
0.995 (D)
N
46 ABCC8 Q09428 p.Cys418Arg rs67254669 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.01 (D)
0.933 (D)
N
47 ABCC8 Q09428 p.Cys435Arg - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
Detail
0.32 (T)
0.975 (D)
N
48 ABCC8 Q09428 p.Ile462Val rs117874766 variant of unknown significance
Detail
0.55 (T)
0.008 (N)
N
49 ABCC8 Q09428 p.Arg495Gln - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.04 (D)
1 (D)
N
50 ABCC8 Q09428 p.Glu501Lys - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.03 (D)
1 (D)
N
51 ABCC8 Q09428 p.Leu503Pro - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
52 ABCC8 Q09428 p.Arg504His rs143451249 variant of unknown significance
Detail
0.27 (T)
0.999 (D)
N
53 ABCC8 Q09428 p.Leu508Pro rs72559727 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.11 (T)
0.998 (D)
N
54 ABCC8 Q09428 p.Arg526His rs144481621 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
55 ABCC8 Q09428 p.Pro551Arg - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.04 (D)
1 (D)
N
56 ABCC8 Q09428 p.Val560Met rs4148619 variant of unknown significance
Detail
0.22 (T)
0.002 (N)
N
57 ABCC8 Q09428 p.Val575Met rs149930713 variant of unknown significance
Detail
0.11 (T)
0.995 (D)
N
58 ABCC8 Q09428 p.Leu582Val rs137852674 Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
Detail
0.22 (T)
0.681 (D)
N
59 ABCC8 Q09428 p.Phe591Leu rs72559726 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.75 (T)
0.563 (D)
N
60 ABCC8 Q09428 p.Arg620Cys rs58241708 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.05 (T)
0.845 (D)
N
61 ABCC8 Q09428 p.Ala625Val rs148709148 variant of unknown significance
Detail
0.28 (T)
0.001 (N)
N
62 ABCC8 Q09428 p.Lys649Asn rs1799858 variant of unknown significance
Detail
(-)
(-)
N
63 ABCC8 Q09428 p.Gly658Asp rs149400972 variant of unknown significance
Detail
0.64 (T)
0 (N)
N
64 ABCC8 Q09428 p.Asp673Asn - variant of unknown significance
Detail
0.48 (T)
0.01 (N)
N
65 ABCC8 Q09428 p.Ile681Thr rs137984699 variant of unknown significance
Detail
0.29 (T)
0.994 (D)
N
66 ABCC8 Q09428 p.Phe686Ser - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.42 (T)
0.999 (D)
N
67 ABCC8 Q09428 p.Gly716Asp rs72559723 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 [MIM:600509#0003]
Detail
0.00 (D)
1 (D)
N
68 ABCC8 Q09428 p.Gly716Ala rs72559723 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 [MIM:600509#0003]
Detail
0.03 (D)
1 (D)
N
69 ABCC8 Q09428 p.Gly716Val rs72559723 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
70 ABCC8 Q09428 p.Lys719Thr - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
71 ABCC8 Q09428 p.Ala726Val rs145747227 variant of unknown significance
Detail
0.08 (T)
0 (N)
N
72 ABCC8 Q09428 p.Ala726Thr rs138687850 variant of unknown significance
Detail
0.01 (D)
0 (N)
N
73 ABCC8 Q09428 p.Ala736Ser rs191697443 variant of unknown significance
Detail
(-)
(-)
N
74 ABCC8 Q09428 p.Arg797Trp rs142620721 variant of unknown significance
Detail
0.15 (T)
1 (D)
N
75 ABCC8 Q09428 p.Asp810Asn - variant of unknown significance
Detail
0.00 (D)
1 (D)
N
76 ABCC8 Q09428 p.Asp812Asn rs146916682 variant of unknown significance
Detail
0.21 (T)
0.721 (D)
N
77 ABCC8 Q09428 p.Asp818Gly rs111228378 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
78 ABCC8 Q09428 p.Leu829Val rs1805036 variant of unknown significance
Detail
(-)
(-)
N
79 ABCC8 Q09428 p.Leu829Met rs1805036 variant of unknown significance
Detail
(-)
(-)
N
80 ABCC8 Q09428 p.Arg834Cys rs140068774 variant of unknown significance
Detail
0.01 (D)
0.998 (D)
N
81 ABCC8 Q09428 p.Arg841Gly - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
0.999 (D)
N
82 ABCC8 Q09428 p.Lys889Thr - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.07 (T)
0.563 (D)
N
83 ABCC8 Q09428 p.Ser956Phe rs72559721 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.08 (T)
0 (N)
N
84 ABCC8 Q09428 p.Ala993Thr rs148342166 variant of unknown significance
Detail
0.01 (D)
0.334 (N)
N
85 ABCC8 Q09428 p.Ala1001Thr rs144329652 variant of unknown significance
Detail
0.39 (T)
0 (N)
N
86 ABCC8 Q09428 p.Ser1013Trp rs72559720 variant of unknown significance
Detail
0.27 (T)
0.108 (N)
N
87 ABCC8 Q09428 p.Leu1015Met rs72559719 variant of unknown significance
Detail
0.20 (T)
0.989 (D)
N
88 ABCC8 Q09428 p.His1023Tyr - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
Detail
0.59 (T)
0.13 (N)
N
89 ABCC8 Q09428 p.Thr1068Met rs139524121 variant of unknown significance
Detail
0.29 (T)
0.005 (N)
N
90 ABCC8 Q09428 p.Thr1084Ala rs138204865 variant of unknown significance
Detail
0.57 (T)
0 (N)
N
91 ABCC8 Q09428 p.Thr1130Pro - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.25 (T)
0.998 (D)
N
92 ABCC8 Q09428 p.Thr1138Met - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.14 (T)
0.954 (D)
N
93 ABCC8 Q09428 p.Thr1146Ser rs56945577 variant of unknown significance
Detail
0.42 (T)
0.274 (N)
N
94 ABCC8 Q09428 p.Leu1147Arg - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.20 (T)
0.901 (D)
N
95 ABCC8 Q09428 p.Val1173Met rs141322087 variant of unknown significance
Detail
0.19 (T)
0.052 (N)
N
96 ABCC8 Q09428 p.Arg1182Gln - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
Detail
0.40 (T)
0.917 (D)
N
97 ABCC8 Q09428 p.Ala1184Glu rs137852675 DIABETES MELLITUS, PERMANENT NEONATAL [MIM:600509#0023]
Detail
0.02 (D)
0.384 (N)
N
98 ABCC8 Q09428 p.Ser1185Tyr rs80356652 DIABETES MELLITUS, PERMANENT NEONATAL [MIM:600509#0023]
Detail
0.25 (T)
0.03 (N)
N
99 ABCC8 Q09428 p.Asp1193Val rs139486832 variant of unknown significance
Detail
0.10 (T)
0.725 (D)
N
100 ABCC8 Q09428 p.Arg1214Trp rs139964066 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
101 ABCC8 Q09428 p.Arg1214Gln - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.05 (T)
1 (D)
N
102 ABCC8 Q09428 p.Arg1273Ser rs1799859 variant of unknown significance
Detail
(-)
(-)
N
103 ABCC8 Q09428 p.Asn1295Lys - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.73 (T)
0.345 (N)
N
104 ABCC8 Q09428 p.Trp1296Cys rs147153615 variant of unknown significance
Detail
0.10 (T)
0.999 (D)
N
105 ABCC8 Q09428 p.His1315Arg rs143438476 variant of unknown significance
Detail
0.52 (T)
0.002 (N)
N
106 ABCC8 Q09428 p.Lys1336Asn rs67767715 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.33 (T)
0.002 (N)
N
107 ABCC8 Q09428 p.Gly1342Glu - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
108 ABCC8 Q09428 p.Leu1349Gln - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.01 (D)
1 (D)
N
109 ABCC8 Q09428 p.Val1351Met rs149331388 variant of unknown significance
Detail
0.77 (T)
0.837 (D)
N
110 ABCC8 Q09428 p.Arg1352His rs28936370 Leucine-induced hypoglycemia (LIH) [MIM:240800]
Detail
0.00 (D)
1 (D)
N
111 ABCC8 Q09428 p.Arg1352Pro rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.01 (D)
1 (D)
N
112 ABCC8 Q09428 p.Val1360Met - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.04 (D)
1 (D)
N
113 ABCC8 Q09428 p.Val1360Gly - variant of unknown significance
Detail
0.00 (D)
1 (D)
N
114 ABCC8 Q09428 p.Val1364Ile rs138642224 variant of unknown significance
Detail
0.95 (T)
0.512 (D)
N
115 ABCC8 Q09428 p.Ala1369Thr rs757110 variant of unknown significance
Detail
(-)
(-)
N
116 ABCC8 Q09428 p.Ala1369Ser rs757110 variant of unknown significance
Detail
0.75 (T)
0 (N)
N
117 ABCC8 Q09428 p.Ala1369Pro rs757110 variant of unknown significance
Detail
(-)
(-)
N
118 ABCC8 Q09428 p.Gly1378Arg - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
119 ABCC8 Q09428 p.Arg1379Cys rs137852673 Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
Detail
0.00 (D)
1 (D)
N
120 ABCC8 Q09428 p.Gly1381Ser - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
121 ABCC8 Q09428 p.Lys1384Gln - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
122 ABCC8 Q09428 p.Ser1386Phe rs72559718 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
123 ABCC8 Q09428 p.Arg1393His - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.02 (D)
1 (D)
N
124 ABCC8 Q09428 p.Gly1400Arg rs137852676 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
125 ABCC8 Q09428 p.Arg1418His - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
126 ABCC8 Q09428 p.Arg1420Cys rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.01 (D)
1 (D)
N
127 ABCC8 Q09428 p.Ile1424Val rs80356653 Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
Detail
0.09 (T)
0.911 (D)
N
128 ABCC8 Q09428 p.Arg1436Gln - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.05 (T)
1 (D)
N
129 ABCC8 Q09428 p.Leu1450Pro - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
130 ABCC8 Q09428 p.Ala1457Thr rs72559717 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.59 (T)
0.947 (D)
N
131 ABCC8 Q09428 p.Asp1471His - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.09 (T)
0.989 (D)
N
132 ABCC8 Q09428 p.Asp1471Asn rs72559716 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.17 (T)
0.489 (N)
N
133 ABCC8 Q09428 p.Gly1478Arg rs72559715 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
134 ABCC8 Q09428 p.Arg1486Lys - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.12 (T)
0.992 (D)
N
135 ABCC8 Q09428 p.Ala1492Thr rs72559714 variant of unknown significance
Detail
0.07 (T)
0.937 (D)
N
136 ABCC8 Q09428 p.Arg1493Gln - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
137 ABCC8 Q09428 p.Arg1493Trp rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
1 (D)
N
138 ABCC8 Q09428 p.Thr1499Ser rs140599332 variant of unknown significance
Detail
1.00 (T)
0 (N)
N
139 ABCC8 Q09428 p.Glu1506Lys rs137852671 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.02 (D)
1 (D)
N
140 ABCC8 Q09428 p.Thr1508Ala rs80075294 variant of unknown significance
Detail
(-)
(-)
N
141 ABCC8 Q09428 p.Thr1508Ser rs80075294 variant of unknown significance
Detail
(-)
(-)
N
142 ABCC8 Q09428 p.Thr1508Pro rs80075294 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
143 ABCC8 Q09428 p.Lys1521Asn rs142272833 variant of unknown significance
Detail
0.18 (T)
0.058 (N)
N
144 ABCC8 Q09428 p.Arg1530Cys rs148808854 variant of unknown significance
Detail
1.00 (T)
0.001 (N)
N
145 ABCC8 Q09428 p.Leu1543Pro rs72559713 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.06 (T)
0.996 (D)
N
146 ABCC8 Q09428 p.Val1550Asp - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.00 (D)
0.999 (D)
N
147 ABCC8 Q09428 p.Leu1551Val - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
Detail
0.01 (D)
0.043 (N)
N
148 ABCC8 Q09428 p.Val1572Ile rs8192690 variant of unknown significance
Detail
0.57 (T)
0.047 (N)
N
149 ABCC8 Q09428 p.Arg1578His rs143557848 variant of unknown significance
Detail
0.12 (T)
0.133 (N)
N
150 ABCC8 Q09428 p.Arg1578Cys rs147170162 variant of unknown significance
Detail
0.06 (T)
0.99 (D)
N