Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26483519G>ACA1564312OTOFc.1335C>T (p.Ile445=)
c.1380C>T (p.Ile460=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26483519G>CCA346136490OTOFc.1335C>G (p.Ile445Met)
c.1380C>G (p.Ile460Met)
2g.26483519G=CA1239830372OTOFc.1335C= (p.Ile445=)
c.1380C= (p.Ile460=)
2g.26483519G>TCA425207016OTOFc.1335C>A (p.Ile445=)
c.1380C>A (p.Ile460=)
2g.26483520A>CCA346136492OTOFc.1334T>G (p.Ile445Ser)
c.1379T>G (p.Ile460Ser)
2g.26483520A>GCA346136493OTOFc.1334T>C (p.Ile445Thr)
c.1379T>C (p.Ile460Thr)
2g.26483520A>TCA346136494OTOFc.1334T>A (p.Ile445Asn)
c.1379T>A (p.Ile460Asn)
gnomAD v4
2g.26483521T>ACA346136496OTOFc.1333A>T (p.Ile445Phe)
c.1378A>T (p.Ile460Phe)
gnomAD v4
2g.26483521T>CCA346136497OTOFc.1333A>G (p.Ile445Val)
c.1378A>G (p.Ile460Val)
dbSNP
2g.26483521T>GCA346136499OTOFc.1333A>C (p.Ile445Leu)
c.1378A>C (p.Ile460Leu)
2g.26483521T=CA1239830374OTOFc.1333A= (p.Ile445=)
c.1378A= (p.Ile460=)
2g.26483522G>ACA425207018OTOFc.1332C>T (p.Phe444=)
c.1377C>T (p.Phe459=)
ClinVar
2g.26483522G>CCA346136502OTOFc.1332C>G (p.Phe444Leu)
c.1377C>G (p.Phe459Leu)
2g.26483522G>TCA346136504OTOFc.1332C>A (p.Phe444Leu)
c.1377C>A (p.Phe459Leu)
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)

Number of alleles fetched