Research Article
Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework
Table 6
Analyzing splicing mutation.
| | Genome AD | Chr | dbSNP | Gene | Variant | Functional study |
| | — | — | — | HCN4 | c.1737+1G>T | — | | — | Chr:1:156130615 | — | LMNA | c.357-2A>G | — | | — | — | — | LMNA | c.357-1G>T | — | | — | — | — | LMNA | IVS9-3C>G | — | | Chr3:38562413 | rs397514447 | SCN5A | c.3963+2T>C | — | | — | — | — | SCN5A | c.1141-2A>G | — | | — | — | — | SCN5A | c.-225-820T>C | — | | — | — | — | TGF beta 1 | c.4246-2A>G | — | | — | — | — | MYH6 | c.2292+2T>C | — |
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