| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.230284393G>T | CA350926219 | SP140 | c.1546G>T (p.Glu516Ter) c.1366G>T (p.Glu456Ter) c.1204G>T (p.Glu402Ter) c.1465G>T (p.Glu489Ter) n.158G>T c.1537G>T (p.Glu513Ter) c.1468G>T (p.Glu490Ter) c.1444G>T (p.Glu482Ter) c.1396G>T (p.Glu466Ter) c.1363G>T (p.Glu455Ter) c.1528G>T (p.Glu510Ter) c.1486G>T (p.Glu496Ter) c.1459G>T (p.Glu487Ter) c.1318G>T (p.Glu440Ter) c.1309G>T (p.Glu437Ter) n.1625G>T c.1519G>T (p.Glu507Ter) c.1450G>T (p.Glu484Ter) c.1447G>T (p.Glu483Ter) c.1441G>T (p.Glu481Ter) c.1435G>T (p.Glu479Ter) c.1408G>T (p.Glu470Ter) c.1387G>T (p.Glu463Ter) c.1378G>T (p.Glu460Ter) c.1357G>T (p.Glu453Ter) c.1354G>T (p.Glu452Ter) c.1285G>T (p.Glu429Ter) c.1276G>T (p.Glu426Ter) c.1225G>T (p.Glu409Ter) c.1213G>T (p.Glu405Ter) c.787G>T (p.Glu263Ter) | dbSNP |
| 2 | g.230284393G>A | CA2155513 | SP140 | c.1546G>A (p.Glu516Lys) c.1366G>A (p.Glu456Lys) c.1204G>A (p.Glu402Lys) c.1465G>A (p.Glu489Lys) n.158G>A c.1537G>A (p.Glu513Lys) c.1468G>A (p.Glu490Lys) c.1444G>A (p.Glu482Lys) c.1396G>A (p.Glu466Lys) c.1363G>A (p.Glu455Lys) c.1528G>A (p.Glu510Lys) c.1486G>A (p.Glu496Lys) c.1459G>A (p.Glu487Lys) c.1318G>A (p.Glu440Lys) c.1309G>A (p.Glu437Lys) n.1625G>A c.1519G>A (p.Glu507Lys) c.1450G>A (p.Glu484Lys) c.1447G>A (p.Glu483Lys) c.1441G>A (p.Glu481Lys) c.1435G>A (p.Glu479Lys) c.1408G>A (p.Glu470Lys) c.1387G>A (p.Glu463Lys) c.1378G>A (p.Glu460Lys) c.1357G>A (p.Glu453Lys) c.1354G>A (p.Glu452Lys) c.1285G>A (p.Glu429Lys) c.1276G>A (p.Glu426Lys) c.1225G>A (p.Glu409Lys) c.1213G>A (p.Glu405Lys) c.787G>A (p.Glu263Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.230284393G>C | CA350926218 | SP140 | c.1546G>C (p.Glu516Gln) c.1366G>C (p.Glu456Gln) c.1204G>C (p.Glu402Gln) c.1465G>C (p.Glu489Gln) n.158G>C c.1537G>C (p.Glu513Gln) c.1468G>C (p.Glu490Gln) c.1444G>C (p.Glu482Gln) c.1396G>C (p.Glu466Gln) c.1363G>C (p.Glu455Gln) c.1528G>C (p.Glu510Gln) c.1486G>C (p.Glu496Gln) c.1459G>C (p.Glu487Gln) c.1318G>C (p.Glu440Gln) c.1309G>C (p.Glu437Gln) n.1625G>C c.1519G>C (p.Glu507Gln) c.1450G>C (p.Glu484Gln) c.1447G>C (p.Glu483Gln) c.1441G>C (p.Glu481Gln) c.1435G>C (p.Glu479Gln) c.1408G>C (p.Glu470Gln) c.1387G>C (p.Glu463Gln) c.1378G>C (p.Glu460Gln) c.1357G>C (p.Glu453Gln) c.1354G>C (p.Glu452Gln) c.1285G>C (p.Glu429Gln) c.1276G>C (p.Glu426Gln) c.1225G>C (p.Glu409Gln) c.1213G>C (p.Glu405Gln) c.787G>C (p.Glu263Gln) | dbSNP |