| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.217818431A>G | CA2099756 | TNS1 | c.3550T>C (p.Trp1184Arg) c.3526T>C (p.Trp1176Arg) c.3676T>C (p.Trp1226Arg) c.3901T>C (p.Trp1301Arg) c.3964T>C (p.Trp1322Arg) c.3865T>C (p.Trp1289Arg) c.3589T>C (p.Trp1197Arg) c.922T>C (p.Trp308Arg) c.2479T>C (p.Trp827Arg) c.3940T>C (p.Trp1314Arg) c.3916T>C (p.Trp1306Arg) c.3892T>C (p.Trp1298Arg) c.3877T>C (p.Trp1293Arg) c.3853T>C (p.Trp1285Arg) c.3724T>C (p.Trp1242Arg) c.2806T>C (p.Trp936Arg) c.2761T>C (p.Trp921Arg) c.2308T>C (p.Trp770Arg) c.985T>C (p.Trp329Arg) n.3994T>C c.3808T>C (p.Trp1270Arg) c.2938T>C (p.Trp980Arg) c.2440T>C (p.Trp814Arg) c.1162T>C (p.Trp388Arg) c.4024T>C (p.Trp1342Arg) c.3937T>C (p.Trp1313Arg) c.3868T>C (p.Trp1290Arg) c.3856T>C (p.Trp1286Arg) c.3829T>C (p.Trp1277Arg) c.3781T>C (p.Trp1261Arg) c.3742T>C (p.Trp1248Arg) c.3565T>C (p.Trp1189Arg) c.4399T>C (p.Trp1467Arg) c.4219T>C (p.Trp1407Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.217818431A>T | CA350518152 | TNS1 | c.3550T>A (p.Trp1184Arg) c.3526T>A (p.Trp1176Arg) c.3676T>A (p.Trp1226Arg) c.3901T>A (p.Trp1301Arg) c.3964T>A (p.Trp1322Arg) c.3865T>A (p.Trp1289Arg) c.3589T>A (p.Trp1197Arg) c.922T>A (p.Trp308Arg) c.2479T>A (p.Trp827Arg) c.3940T>A (p.Trp1314Arg) c.3916T>A (p.Trp1306Arg) c.3892T>A (p.Trp1298Arg) c.3877T>A (p.Trp1293Arg) c.3853T>A (p.Trp1285Arg) c.3724T>A (p.Trp1242Arg) c.2806T>A (p.Trp936Arg) c.2761T>A (p.Trp921Arg) c.2308T>A (p.Trp770Arg) c.985T>A (p.Trp329Arg) n.3994T>A c.3808T>A (p.Trp1270Arg) c.2938T>A (p.Trp980Arg) c.2440T>A (p.Trp814Arg) c.1162T>A (p.Trp388Arg) c.4024T>A (p.Trp1342Arg) c.3937T>A (p.Trp1313Arg) c.3868T>A (p.Trp1290Arg) c.3856T>A (p.Trp1286Arg) c.3829T>A (p.Trp1277Arg) c.3781T>A (p.Trp1261Arg) c.3742T>A (p.Trp1248Arg) c.3565T>A (p.Trp1189Arg) c.4399T>A (p.Trp1467Arg) c.4219T>A (p.Trp1407Arg) | dbSNP gnomAD v4 |