Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.26483538T>CCA346136612OTOFc.1316A>G (p.Asn439Ser)
c.1361A>G (p.Asn454Ser)
 gnomAD v4
2g.26483538T>GCA346136615OTOFc.1316A>C (p.Asn439Thr)
c.1361A>C (p.Asn454Thr)
2g.26483539T>ACA346136617OTOFc.1315A>T (p.Asn439Tyr)
c.1360A>T (p.Asn454Tyr)
2g.26483539T>CCA346136619OTOFc.1315A>G (p.Asn439Asp)
c.1360A>G (p.Asn454Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.26483539T>GCA346136621OTOFc.1315A>C (p.Asn439His)
c.1360A>C (p.Asn454His)
 gnomAD v4
2g.26483539T=CA1239830386OTOFc.1315A= (p.Asn439=)
c.1360A= (p.Asn454=)
2g.26483540G>ACA425207040OTOFc.1314C>T (p.Ala438=)
c.1359C>T (p.Ala453=)
2g.26483540G>CCA425207042OTOFc.1314C>G (p.Ala438=)
c.1359C>G (p.Ala453=)
2g.26483540G>TCA425207041OTOFc.1314C>A (p.Ala438=)
c.1359C>A (p.Ala453=)
2g.26483541G>ACA1564314OTOFc.1313C>T (p.Ala438Val)
c.1358C>T (p.Ala453Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483541G>CCA346136627OTOFc.1313C>G (p.Ala438Gly)
c.1358C>G (p.Ala453Gly)
2g.26483541G=CA1239830387OTOFc.1313C= (p.Ala438=)
c.1358C= (p.Ala453=)
2g.26483541G>TCA346136630OTOFc.1313C>A (p.Ala438Asp)
c.1358C>A (p.Ala453Asp)
2g.26483542C>ACA346136633OTOFc.1312G>T (p.Ala438Ser)
c.1357G>T (p.Ala453Ser)
2g.26483542C>GCA346136636OTOFc.1312G>C (p.Ala438Pro)
c.1357G>C (p.Ala453Pro)
2g.26483542C>TCA346136637OTOFc.1312G>A (p.Ala438Thr)
c.1357G>A (p.Ala453Thr)

Number of alleles fetched