| 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 |
| 2 | g.217818431A= | CA1328471106 | TNS1 | c.3550T= (p.Trp1184=) c.3526T= (p.Trp1176=) c.3676T= (p.Trp1226=) c.3901T= (p.Trp1301=) c.3964T= (p.Trp1322=) c.3865T= (p.Trp1289=) c.3589T= (p.Trp1197=) c.922T= (p.Trp308=) c.2479T= (p.Trp827=) c.3940T= (p.Trp1314=) c.3916T= (p.Trp1306=) c.3892T= (p.Trp1298=) c.3877T= (p.Trp1293=) c.3853T= (p.Trp1285=) c.3724T= (p.Trp1242=) c.2806T= (p.Trp936=) c.2761T= (p.Trp921=) c.2308T= (p.Trp770=) c.985T= (p.Trp329=) n.3994T= c.3808T= (p.Trp1270=) c.2938T= (p.Trp980=) c.2440T= (p.Trp814=) c.1162T= (p.Trp388=) c.4024T= (p.Trp1342=) c.3937T= (p.Trp1313=) c.3868T= (p.Trp1290=) c.3856T= (p.Trp1286=) c.3829T= (p.Trp1277=) c.3781T= (p.Trp1261=) c.3742T= (p.Trp1248=) c.3565T= (p.Trp1189=) c.4399T= (p.Trp1467=) c.4219T= (p.Trp1407=) | dbSNP |
| 2 | g.217818431A>C | CA350518151 | TNS1 | c.3550T>G (p.Trp1184Gly) c.3526T>G (p.Trp1176Gly) c.3676T>G (p.Trp1226Gly) c.3901T>G (p.Trp1301Gly) c.3964T>G (p.Trp1322Gly) c.3865T>G (p.Trp1289Gly) c.3589T>G (p.Trp1197Gly) c.922T>G (p.Trp308Gly) c.2479T>G (p.Trp827Gly) c.3940T>G (p.Trp1314Gly) c.3916T>G (p.Trp1306Gly) c.3892T>G (p.Trp1298Gly) c.3877T>G (p.Trp1293Gly) c.3853T>G (p.Trp1285Gly) c.3724T>G (p.Trp1242Gly) c.2806T>G (p.Trp936Gly) c.2761T>G (p.Trp921Gly) c.2308T>G (p.Trp770Gly) c.985T>G (p.Trp329Gly) n.3994T>G c.3808T>G (p.Trp1270Gly) c.2938T>G (p.Trp980Gly) c.2440T>G (p.Trp814Gly) c.1162T>G (p.Trp388Gly) c.4024T>G (p.Trp1342Gly) c.3937T>G (p.Trp1313Gly) c.3868T>G (p.Trp1290Gly) c.3856T>G (p.Trp1286Gly) c.3829T>G (p.Trp1277Gly) c.3781T>G (p.Trp1261Gly) c.3742T>G (p.Trp1248Gly) c.3565T>G (p.Trp1189Gly) c.4399T>G (p.Trp1467Gly) c.4219T>G (p.Trp1407Gly) | dbSNP |