Gene | Protein | Polyphen-2 | SIFT | Mutation assessor |
---|---|---|---|---|
KCNQ1 | p.P73T | 0 | 0 | 0 |
KCNQ1 | p.F157C | 0 | 1 | 2 |
KCNQ1 | p.I198V | 1 | 1 | 1 |
KCNQ1 | p.S225L | 1 | 1 | 1 |
KCNQ1 | p.A226V | 2 | 1 | 2 |
KCNQ1 | p.V254M | 2 | 1 | 2 |
KCNQ1 | p.L273F | 2 | 1 | 2 |
KCNQ1 | p.A302V | 2 | 1 | 2 |
KCNQ1 | p.Y315C | 2 | 1 | 3 |
KCNQ1 | p.G350R | 2 | 1 | 2 |
KCNQ1 | p.H363N | 1 | 1 | 2 |
KCNQ1 | p.R366W | 2 | 1 | 2 |
KCNQ1 | p.R583C | 1 | 0 | 1 |
KCNQ1 | p.R583G | 0 | 0 | 1 |
KCNQ1 | p.R583H | 0 | 0 | 1 |
KCNH2 | p.F22S | 2 | 0 | 2 |
KCNH2 | p.F29L | 0 | 1 | 2 |
KCNH2 | p.T74M | 2 | 1 | 2 |
KCNH2 | p.I96T | 1 | 1 | 2 |
KCNH2 | p.K101E | 0 | 1 | 3 |
KCNH2 | p.L109P | 1 | 0 | 2 |
KCNH2 | p.R176W | 2 | 1 | 0 |
KCNH2 | p.I400N | 2 | 1 | 2 |
KCNH2 | p.S428L | 0 | 0 | 2 |
KCNH2 | p.A561V | 2 | 1 | 2 |
KCNH2 | p.G572R | 2 | 1 | 2 |
KCNH2 | p.G584S | 1 | 0 | 0 |
KCNH2 | p.S621N | 1 | 1 | 3 |
KCNH2 | p.N629S | 2 | 1 | 2 |
KCNH2 | p.N633S | 1 | 0 | 1 |
KCNH2 | p.I858T | 1 | 1 | 2 |
KCNH2 | p.A913V | 0 | 0 | 0 |
SCN5A | p.G319S | 0 | 0 | 2 |
SCN5A | p.R340W | 1 | 1 | 0 |
SCN5A | p.V411M | 2 | 1 | 3 |
SCN5A | p.F1595I | 0 | 0 | 2 |
SCN5A | p.V1596M | 1 | 1 | 2 |
SCN5A | p.L1785Q | 2 | 1 | 3 |
SCN5A | p.P2005A | 0 | 0 | 0 |
KCNE1 | p.G60D | 2 | 1 | 2 |
KCNE1 | p.D76N | 1 | 0 | 2 |
KCNE1 | p.A93T | 0 | 0 | 1 |
KCNE2 | p.I57T | 2 | 1 | 1 |
KCNE2 | p.V65M | 2 | 1 | 1 |