Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97549605C>ACA419145247DPYDc.1479G>T (p.Val493=)
c.1368G>T (p.Val456=)
c.984G>T (p.Val328=)
1g.97549605C=CA1182917402DPYDc.1479G= (p.Val493=)
c.1368G= (p.Val456=)
c.984G= (p.Val328=)
1g.97549605C>GCA419145248DPYDc.1479G>C (p.Val493=)
c.1368G>C (p.Val456=)
c.984G>C (p.Val328=)
1g.97549605C>TCA419145249DPYDc.1479G>A (p.Val493=)
c.1368G>A (p.Val456=)
c.984G>A (p.Val328=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.97549606A>CCA341377514DPYDc.1478T>G (p.Val493Gly)
c.1367T>G (p.Val456Gly)
c.983T>G (p.Val328Gly)
1g.97549606A>GCA341377516DPYDc.1478T>C (p.Val493Ala)
c.1367T>C (p.Val456Ala)
c.983T>C (p.Val328Ala)
 gnomAD v4
1g.97549606A>TCA341377518DPYDc.1478T>A (p.Val493Glu)
c.1367T>A (p.Val456Glu)
c.983T>A (p.Val328Glu)
1g.97549607C>ACA341377523DPYDc.1477G>T (p.Val493Leu)
c.1366G>T (p.Val456Leu)
c.982G>T (p.Val328Leu)
1g.97549607C=CA1182917403DPYDc.1477G= (p.Val493=)
c.1366G= (p.Val456=)
c.982G= (p.Val328=)
1g.97549607C>GCA341377531DPYDc.1477G>C (p.Val493Leu)
c.1366G>C (p.Val456Leu)
c.982G>C (p.Val328Leu)
1g.97549607C>TCA341377526DPYDc.1477G>A (p.Val493Met)
c.1366G>A (p.Val456Met)
c.982G>A (p.Val328Met)
 dbSNP gnomAD v2 gnomAD v4
1g.97549608delCA2744701770DPYDc.1477del (p.Val493Ter)
c.1366del (p.Val456Ter)
c.982del (p.Val328Ter)
1g.97549608C>ACA419145251DPYDc.1476G>T (p.Ser492=)
c.1365G>T (p.Ser455=)
c.981G>T (p.Ser327=)
1g.97549608C=CA1182917404DPYDc.1476G= (p.Ser492=)
c.1365G= (p.Ser455=)
c.981G= (p.Ser327=)
1g.97549608C>GCA419145253DPYDc.1476G>C (p.Ser492=)
c.1365G>C (p.Ser455=)
c.981G>C (p.Ser327=)
1g.97549608C>TCA963339DPYDc.1476G>A (p.Ser492=)
c.1365G>A (p.Ser455=)
c.981G>A (p.Ser327=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549609G>ACA963340DPYDc.1475C>T (p.Ser492Leu)
c.1364C>T (p.Ser455Leu)
c.980C>T (p.Ser327Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97549609G>CCA341377534DPYDc.1475C>G (p.Ser492Trp)
c.1364C>G (p.Ser455Trp)
c.980C>G (p.Ser327Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.97549609G=CA1140803050DPYDc.1475C= (p.Ser492=)
c.1364C= (p.Ser455=)
c.980C= (p.Ser327=)
1g.97549609G>TCA341377536DPYDc.1475C>A (p.Ser492Ter)
c.1364C>A (p.Ser455Ter)
c.980C>A (p.Ser327Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.97549610A>CCA341377538DPYDc.1474T>G (p.Ser492Ala)
c.1363T>G (p.Ser455Ala)
c.979T>G (p.Ser327Ala)
 gnomAD v4
1g.97549610A>GCA341377540DPYDc.1474T>C (p.Ser492Pro)
c.1363T>C (p.Ser455Pro)
c.979T>C (p.Ser327Pro)
1g.97549610A>TCA341377542DPYDc.1474T>A (p.Ser492Thr)
c.1363T>A (p.Ser455Thr)
c.979T>A (p.Ser327Thr)
1g.97549611T>ACA341377543DPYDc.1473A>T (p.Glu491Asp)
c.1362A>T (p.Glu454Asp)
c.978A>T (p.Glu326Asp)
1g.97549611T>CCA419145255DPYDc.1473A>G (p.Glu491=)
c.1362A>G (p.Glu454=)
c.978A>G (p.Glu326=)
 dbSNP
1g.97549611T>GCA27517953DPYDc.1473A>C (p.Glu491Asp)
c.1362A>C (p.Glu454Asp)
c.978A>C (p.Glu326Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.97549611T=CA1182917405DPYDc.1473A= (p.Glu491=)
c.1362A= (p.Glu454=)
c.978A= (p.Glu326=)
1g.97549612T>ACA341377544DPYDc.1472A>T (p.Glu491Val)
c.1361A>T (p.Glu454Val)
c.977A>T (p.Glu326Val)
 dbSNP gnomAD v3 gnomAD v4
1g.97549612T>CCA341377545DPYDc.1472A>G (p.Glu491Gly)
c.1361A>G (p.Glu454Gly)
c.977A>G (p.Glu326Gly)
 gnomAD v4
1g.97549612T>GCA341377547DPYDc.1472A>C (p.Glu491Ala)
c.1361A>C (p.Glu454Ala)
c.977A>C (p.Glu326Ala)
1g.97549612T=CA1182917406DPYDc.1472A= (p.Glu491=)
c.1361A= (p.Glu454=)
c.977A= (p.Glu326=)
1g.97549613C>ACA341377550DPYDc.1471G>T (p.Glu491Ter)
c.1360G>T (p.Glu454Ter)
c.976G>T (p.Glu326Ter)
1g.97549613C>GCA341377551DPYDc.1471G>C (p.Glu491Gln)
c.1360G>C (p.Glu454Gln)
c.976G>C (p.Glu326Gln)
1g.97549613C>TCA341377553DPYDc.1471G>A (p.Glu491Lys)
c.1360G>A (p.Glu454Lys)
c.976G>A (p.Glu326Lys)
 gnomAD v4
1g.97549614C>ACA419145258DPYDc.1470G>T (p.Val490=)
c.1359G>T (p.Val453=)
c.975G>T (p.Val325=)
1g.97549614C=CA1182917407DPYDc.1470G= (p.Val490=)
c.1359G= (p.Val453=)
c.975G= (p.Val325=)
1g.97549614C>GCA419145260DPYDc.1470G>C (p.Val490=)
c.1359G>C (p.Val453=)
c.975G>C (p.Val325=)
1g.97549614C>TCA419145261DPYDc.1470G>A (p.Val490=)
c.1359G>A (p.Val453=)
c.975G>A (p.Val325=)
 dbSNP
1g.97549615A=CA1182917408DPYDc.1469T= (p.Val490=)
c.1358T= (p.Val453=)
c.974T= (p.Val325=)
1g.97549615A>CCA341377562DPYDc.1469T>G (p.Val490Gly)
c.1358T>G (p.Val453Gly)
c.974T>G (p.Val325Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.97549615A>GCA341377560DPYDc.1469T>C (p.Val490Ala)
c.1358T>C (p.Val453Ala)
c.974T>C (p.Val325Ala)
1g.97549615A>TCA341377558DPYDc.1469T>A (p.Val490Glu)
c.1358T>A (p.Val453Glu)
c.974T>A (p.Val325Glu)
1g.97549616C>ACA341377563DPYDc.1468G>T (p.Val490Leu)
c.1357G>T (p.Val453Leu)
c.973G>T (p.Val325Leu)
1g.97549616C>GCA341377565DPYDc.1468G>C (p.Val490Leu)
c.1357G>C (p.Val453Leu)
c.973G>C (p.Val325Leu)
1g.97549616C>TCA341377567DPYDc.1468G>A (p.Val490Met)
c.1357G>A (p.Val453Met)
c.973G>A (p.Val325Met)
1g.97549617T>ACA419145263DPYDc.1467A>T (p.Thr489=)
c.1356A>T (p.Thr452=)
c.972A>T (p.Thr324=)
1g.97549617T>CCA419145264DPYDc.1467A>G (p.Thr489=)
c.1356A>G (p.Thr452=)
c.972A>G (p.Thr324=)
1g.97549617T>GCA419145262DPYDc.1467A>C (p.Thr489=)
c.1356A>C (p.Thr452=)
c.972A>C (p.Thr324=)
1g.97549618G>ACA341377569DPYDc.1466C>T (p.Thr489Ile)
c.1355C>T (p.Thr452Ile)
c.971C>T (p.Thr324Ile)
1g.97549618G>CCA341377571DPYDc.1466C>G (p.Thr489Arg)
c.1355C>G (p.Thr452Arg)
c.971C>G (p.Thr324Arg)

Number of alleles fetched