| 基因名 | 突变 |
|---|---|
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23391988C>T,c.1789C>T,p.R597C |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23391893G>A,c.1694G>A,p.R565Q |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23391887G>A,c.1688G>A,p.R563Q |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23391462G>A,c.1514G>A,p.R505H |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23388540G>T,c.1325G>T,p.G442V |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23387135G>A,c.1229G>A,p.R410H |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23387095C>T,c.1189C>T,p.R397C |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23387068C>T,c.1162C>T,p.R388C |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23383139G>A,c.1087G>A,p.V363M |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23382703G>A,c.964G>A,p.E322K |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23379263A>G,c.863A>G,p.N288S |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23379257C>T,c.857C>T,p.S286L |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23366651G>A,c.617G>A,p.R206Q |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23364276C>T,c.466C>T,p.R156W |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23360188A>G,c.268A>G,p.M90V |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23360165C>G,c.245C>G,p.S82C |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23360101G>A,c.181G>A,p.A61T |
| SCNN1B(NM_000336,sodium channel, non-voltage-gated 1, beta subunit,640aa) | g.16:23360011G>A,c.91G>A,p.D31N |
| SCNN1A(NM_001159576,sodium channel, non-voltage-gated 1 alpha subunit,728aa) | g.12:6484017G>A,c.110C>T,p.P37L |
| SCNN1A(NM_001159576,sodium channel, non-voltage-gated 1 alpha subunit,728aa) | g.12:6483972G>C,c.155C>G,p.P52R |
| SCNN1A(NM_001159576,sodium channel, non-voltage-gated 1 alpha subunit,728aa) | g.12:6483792C>T,c.335G>A,p.R112H |
| SCNN1A(NM_001159576,sodium channel, non-voltage-gated 1 alpha subunit,728aa) | g.12:6472809A>G,c.661T>C,p.Y221H |
| SCNN1A(NM_001159576,sodium channel, non-voltage-gated 1 alpha subunit,728aa) | g.12:6472752G>A,c.718C>T,p.R240W |
| SCNN1A(NM_001159576,sodium channel, non-voltage-gated 1 alpha subunit,728aa) | g.12:6471244C>T,c.1025G>A,p.R342H |
| SCNN1A(NM_001159576,sodium channel, non-voltage-gated 1 alpha subunit,728aa) | g.12:6464581C>T,c.1177G>A,p.A393T |
| SCNN1A(NM_001159576,sodium channel, non-voltage-gated 1 alpha subunit,728aa) | g.12:6464472C>T,c.1286G>A,p.R429Q |
| SCNN1A(NM_001159576,sodium channel, non-voltage-gated 1 alpha subunit,728aa) | g.12:6464464C>T,c.1294G>A,p.V432M |
| SCNN1A(NM_001159576,sodium channel, non-voltage-gated 1 alpha subunit,728aa) | g.12:6463975T>C,c.1360A>G,p.T454A |