Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26483523A>CCA346136510OTOFc.1331T>G (p.Phe444Cys)
c.1376T>G (p.Phe459Cys)
2g.26483523A>GCA346136508OTOFc.1331T>C (p.Phe444Ser)
c.1376T>C (p.Phe459Ser)
2g.26483523A>TCA346136506OTOFc.1331T>A (p.Phe444Tyr)
c.1376T>A (p.Phe459Tyr)
2g.26483524A>CCA346136511OTOFc.1330T>G (p.Phe444Val)
c.1375T>G (p.Phe459Val)
2g.26483524A>GCA346136513OTOFc.1330T>C (p.Phe444Leu)
c.1375T>C (p.Phe459Leu)
2g.26483524A>TCA346136515OTOFc.1330T>A (p.Phe444Ile)
c.1375T>A (p.Phe459Ile)
2g.26483525A>CCA425207021OTOFc.1329T>G (p.Ala443=)
c.1374T>G (p.Ala458=)
2g.26483525A>GCA425207023OTOFc.1329T>C (p.Ala443=)
c.1374T>C (p.Ala458=)
2g.26483525A>TCA425207024OTOFc.1329T>A (p.Ala443=)
c.1374T>A (p.Ala458=)
2g.26483526G>ACA44402343OTOFc.1328C>T (p.Ala443Val)
c.1373C>T (p.Ala458Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26483526G>CCA346136519OTOFc.1328C>G (p.Ala443Gly)
c.1373C>G (p.Ala458Gly)
2g.26483526G=CA1239830376OTOFc.1328C= (p.Ala443=)
c.1373C= (p.Ala458=)
2g.26483526G>TCA346136527OTOFc.1328C>A (p.Ala443Asp)
c.1373C>A (p.Ala458Asp)
2g.26483527C>ACA346136532OTOFc.1327G>T (p.Ala443Ser)
c.1372G>T (p.Ala458Ser)
2g.26483527C>GCA346136534OTOFc.1327G>C (p.Ala443Pro)
c.1372G>C (p.Ala458Pro)
2g.26483527C>TCA346136536OTOFc.1327G>A (p.Ala443Thr)
c.1372G>A (p.Ala458Thr)
 gnomAD v4
2g.26483528C>ACA346136540OTOFc.1326G>T (p.Lys442Asn)
c.1371G>T (p.Lys457Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.26483528C=CA1239830378OTOFc.1326G= (p.Lys442=)
c.1371G= (p.Lys457=)
2g.26483528C>GCA346136542OTOFc.1326G>C (p.Lys442Asn)
c.1371G>C (p.Lys457Asn)
2g.26483528C>TCA425207025OTOFc.1326G>A (p.Lys442=)
c.1371G>A (p.Lys457=)
2g.26483529T>ACA346136546OTOFc.1325A>T (p.Lys442Met)
c.1370A>T (p.Lys457Met)
2g.26483529T>CCA346136548OTOFc.1325A>G (p.Lys442Arg)
c.1370A>G (p.Lys457Arg)
2g.26483529T>GCA1564313OTOFc.1325A>C (p.Lys442Thr)
c.1370A>C (p.Lys457Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483529T=CA1239830380OTOFc.1325A= (p.Lys442=)
c.1370A= (p.Lys457=)
2g.26483530T>ACA346136563OTOFc.1324A>T (p.Lys442Ter)
c.1369A>T (p.Lys457Ter)
2g.26483530T>CCA346136565OTOFc.1324A>G (p.Lys442Glu)
c.1369A>G (p.Lys457Glu)
2g.26483530T>GCA346136561OTOFc.1324A>C (p.Lys442Gln)
c.1369A>C (p.Lys457Gln)
2g.26483531C>ACA346136570OTOFc.1323G>T (p.Lys441Asn)
c.1368G>T (p.Lys456Asn)
2g.26483531C>GCA346136568OTOFc.1323G>C (p.Lys441Asn)
c.1368G>C (p.Lys456Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.26483531C>TCA425207028OTOFc.1323G>A (p.Lys441=)
c.1368G>A (p.Lys456=)
 ClinVar gnomAD v4
2g.26483532T>ACA346136582OTOFc.1322A>T (p.Lys441Met)
c.1367A>T (p.Lys456Met)
2g.26483532T>CCA346136574OTOFc.1322A>G (p.Lys441Arg)
c.1367A>G (p.Lys456Arg)
2g.26483532T>GCA346136578OTOFc.1322A>C (p.Lys441Thr)
c.1367A>C (p.Lys456Thr)
2g.26483533T>ACA346136584OTOFc.1321A>T (p.Lys441Ter)
c.1366A>T (p.Lys456Ter)
2g.26483533T>CCA346136586OTOFc.1321A>G (p.Lys441Glu)
c.1366A>G (p.Lys456Glu)
2g.26483533T>GCA346136588OTOFc.1321A>C (p.Lys441Gln)
c.1366A>C (p.Lys456Gln)
2g.26483534T>ACA425207033OTOFc.1320A>T (p.Val440=)
c.1365A>T (p.Val455=)
2g.26483534T>CCA425207031OTOFc.1320A>G (p.Val440=)
c.1365A>G (p.Val455=)
2g.26483534T>GCA425207032OTOFc.1320A>C (p.Val440=)
c.1365A>C (p.Val455=)
2g.26483535A>CCA346136589OTOFc.1319T>G (p.Val440Gly)
c.1364T>G (p.Val455Gly)
2g.26483535A>GCA346136590OTOFc.1319T>C (p.Val440Ala)
c.1364T>C (p.Val455Ala)
2g.26483535A>TCA346136593OTOFc.1319T>A (p.Val440Glu)
c.1364T>A (p.Val455Glu)
2g.26483536C>ACA346136596OTOFc.1318G>T (p.Val440Leu)
c.1363G>T (p.Val455Leu)
2g.26483536C>GCA346136598OTOFc.1318G>C (p.Val440Leu)
c.1363G>C (p.Val455Leu)
2g.26483536C>TCA346136599OTOFc.1318G>A (p.Val440Ile)
c.1363G>A (p.Val455Ile)
2g.26483537A=CA1239830382OTOFc.1317T= (p.Asn439=)
c.1362T= (p.Asn454=)
2g.26483537A>CCA346136608OTOFc.1317T>G (p.Asn439Lys)
c.1362T>G (p.Asn454Lys)
2g.26483537A>GCA177563OTOFc.1317T>C (p.Asn439=)
c.1362T>C (p.Asn454=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483537A>TCA346136604OTOFc.1317T>A (p.Asn439Lys)
c.1362T>A (p.Asn454Lys)
2g.26483538T>ACA346136610OTOFc.1316A>T (p.Asn439Ile)
c.1361A>T (p.Asn454Ile)

Number of alleles fetched