|  |  | Counts |  |  |  |  |  |  |  |  | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | cDNA change | AA change | Cases | Early onset | Controls | PolyPhen2a | SIFTb | MutationTasterc | CADDd | Previously observed in MODY/diabetese | ExAC AFf | dbSNP 144 | ACMG classg |
HNF1A | c.391C > T | p.R131W | 1 | 1 | 0 | Pr.D | del | del | 31 | 29 families | ─ | rs137853244 | 5 |
HNF1A | c.608G > A | p.R203H | 2 | 1 | 0 | Pos.D | del | del | 29 | 19 individuals | ─ | rs587780357 | 4 |
HNF1A | c.812G > A | p.R271Q | 1 | 1 | 0 | Pr.D | del | del | 34 | 13 individuals | 0.00007 | rs779184183 | 4 |
HNF1A | c.779C > T | p.T260M | 1 | 1 | 0 | Pr.D | del | del | 33 | 13 families | ─ | ─ | 4 |
HNF1A | c.1340C > T | p.P447L | 1 | 1 | 0 | Pr.D | del | del | 34 | 11 studies | ─ | rs137853236 | 5 |
HNF1A | c.1135C > G | p.P379A | 1 | 1 | 0 | Pr.D | del | del | 25 | 10 studies | 0.0006 | rs754729248 | 4 |
HNF1A | c.815G > A | p.R272H | 1 | 0 | 0 | Pr.D | del | del | 34 | 20 families | ─ | rs137853238 | 5 |
HNF1A | c.1061C > T | p.T354M | 2 | 1 | 0 | benign | tol | poly | 23 | 3 individuals | 0.00006 | rs757068809 | 3 |
HNF1A | c.1513C > A | p.H505N | 1 | 0 | 0 | Pos.D | tol | del | 26.1 | 3 individuals from one study | 0.00017 | rs577078110 | 4 |
HNF1A | c.1400C > T | p.P467L | 1 | 0 | 0 | benign | del | del | 20.8 | 3 individuals | 0.000015 | ─ | 3 |
HNF1A | c.481G > A | p.A161T | 0 | 0 | 1 | Pos.D | del | del | 31 | 1 individual | 0.00024 | rs201095611 | 3 |
HNF1A | c.503G > A | p.R168H | 0 | 0 | 2 | Pos.D | del | del | 32 | 1 individual | 0.00006 | rs377110124 | 3 |
HNF1A | c.403G > A | p.D135N | 1 | 1 | 0 | Pos.D | del | del | 32 | 1 individual | ─ | ─ | 3 |
HNF1A | c.1699G > A | p.V567I | 1 | 0 | 0 | benign | tol | poly | 18.8 | 1 individual | 0.0001 | ─ | 3 |
HNF4A | c.400C > T | p.R134W | 1 | 1 | 0 | Pos.D | del | del | 35 | 5 families | ─ | rs370239205 | 4 |
HNF4A | c.406C > T | p.R136W | 2 | 0 | 0 | Pos.D | del | del | 34 | 36 families | 0.0001 | rs137853336 | 5 |
HNF4A | c.929G > A | p.R310Q | 2 | 0 | 0 | Pr.D | tol | del | 24.7 | 1 family/co-segregation with diabetes [80] | 0.00003 | rs371124358 | 4 |
ABCC8 | c.886G > A | p.G296R | 1 | 1 | 0 | benign | del | del | 27.1 | Individual with diabetes at 7 months [82] | 0.00006 | rs148529020 | 3 |
ABCC8 | c.1067A > G | p.Y356C | 1 | 0 | 0 | Pr.D | del | del | 26.1 | Early onset diabetes family [78] | 0.00005 | rs59852838 | 4 |
ABCC8 | c.2473C > T | p.R825W | 2 | 1 | 0 | Pr.D | del | del | 35 | Multiple individuals with NDM [83] | 0.00001 | rs779736828 | 4 |
ABCC8 | c.4136G > A | p.R1379H | 1 | 1 | 0 | Pr.D | del | del | 34 | One individual with transient NDM [81] | ─ | ─ | 3 |
ABCC8 | c.4516G > A | p.E1506K | 1 | 1 | 0 | Pr.D | del | del | 35 | Finnish family [77] | ─ | rs137852671 | 5 |
INS | c.16C > T | p.R6C | 1 | 0 | 0 | ─ | del | del | 22.7 | Three-generation MODY family [76] | 0.00006 | rs121908278 | 5 |