Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26483433_26483438delCA2658239278OTOFc.1392+31_1392+36del (n.1392+31_1392+36del)
c.1437+31_1437+36del (n.1437+31_1437+36del)
 gnomAD v4
2g.26483434C>ACA2658239282OTOFc.1392+28G>T (n.1392+28G>T)
c.1437+28G>T (n.1437+28G>T)
 gnomAD v4
2g.26483434C=CA1239830263OTOFc.1392+28G= (n.1392+28G=)
c.1437+28G= (n.1437+28G=)
2g.26483434C>TCA1239830265OTOFc.1392+28G>A (n.1392+28G>A)
c.1437+28G>A (n.1437+28G>A)
 dbSNP gnomAD v4
2g.26483435A>GCA2658239283OTOFc.1392+27T>C (n.1392+27T>C)
c.1437+27T>C (n.1437+27T>C)
 gnomAD v4
2g.26483436G>ACA1239830268OTOFc.1392+26C>T (n.1392+26C>T)
c.1437+26C>T (n.1437+26C>T)
 dbSNP gnomAD v4
2g.26483436G=CA1239830267OTOFc.1392+26C= (n.1392+26C=)
c.1437+26C= (n.1437+26C=)
2g.26483437C>ACA1564295OTOFc.1392+25G>T (n.1392+25G>T)
c.1437+25G>T (n.1437+25G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483437C=CA1239830270OTOFc.1392+25G= (n.1392+25G=)
c.1437+25G= (n.1437+25G=)
2g.26483437C>GCA1564294OTOFc.1392+25G>C (n.1392+25G>C)
c.1437+25G>C (n.1437+25G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483438C>TCA2658239286OTOFc.1392+24G>A (n.1392+24G>A)
c.1437+24G>A (n.1437+24G>A)
 gnomAD v4
2g.26483442T>CCA1564296OTOFc.1392+20A>G (n.1392+20A>G)
c.1437+20A>G (n.1437+20A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483442T=CA1239830273OTOFc.1392+20A= (n.1392+20A=)
c.1437+20A= (n.1437+20A=)
2g.26483443G>ACA1239830276OTOFc.1392+19C>T (n.1392+19C>T)
c.1437+19C>T (n.1437+19C>T)
 dbSNP
2g.26483443G>CCA767290755OTOFc.1392+19C>G (n.1392+19C>G)
c.1437+19C>G (n.1437+19C>G)
 dbSNP
2g.26483443G=CA1239830275OTOFc.1392+19C= (n.1392+19C=)
c.1437+19C= (n.1437+19C=)
2g.26483443G>TCA2749240846OTOFc.1392+19C>A (n.1392+19C>A)
c.1437+19C>A (n.1437+19C>A)
2g.26483445A=CA1239830279OTOFc.1392+17T= (n.1392+17T=)
c.1437+17T= (n.1437+17T=)
2g.26483445A>GCA531396487OTOFc.1392+17T>C (n.1392+17T>C)
c.1437+17T>C (n.1437+17T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.26483449C>ACA2658239290OTOFc.1392+13G>T (n.1392+13G>T)
c.1437+13G>T (n.1437+13G>T)
 gnomAD v4
2g.26483449C=CA1239830283OTOFc.1392+13G= (n.1392+13G=)
c.1437+13G= (n.1437+13G=)
2g.26483449C>TCA531396488OTOFc.1392+13G>A (n.1392+13G>A)
c.1437+13G>A (n.1437+13G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26483450A>CCA2658239291OTOFc.1392+12T>G (n.1392+12T>G)
c.1437+12T>G (n.1437+12T>G)
 gnomAD v4
2g.26483451T>CCA531396490OTOFc.1392+11A>G (n.1392+11A>G)
c.1437+11A>G (n.1437+11A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.26483451T>GCA1239830286OTOFc.1392+11A>C (n.1392+11A>C)
c.1437+11A>C (n.1437+11A>C)
 ClinVar dbSNP gnomAD v4
2g.26483451T=CA1239830285OTOFc.1392+11A= (n.1392+11A=)
c.1437+11A= (n.1437+11A=)
2g.26483452A>GCA2576699751OTOFc.1392+10T>C (n.1392+10T>C)
c.1437+10T>C (n.1437+10T>C)
 gnomAD v4
2g.26483453C=CA1239830289OTOFc.1392+9G= (n.1392+9G=)
c.1437+9G= (n.1437+9G=)
2g.26483453C>GCA531396491OTOFc.1392+9G>C (n.1392+9G>C)
c.1437+9G>C (n.1437+9G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26483453C>TCA1564297OTOFc.1392+9G>A (n.1392+9G>A)
c.1437+9G>A (n.1437+9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483454C>TCA2658239293OTOFc.1392+8G>A (n.1392+8G>A)
c.1437+8G>A (n.1437+8G>A)
 gnomAD v4
2g.26483455C=CA1239830291OTOFc.1392+7G= (n.1392+7G=)
c.1437+7G= (n.1437+7G=)
2g.26483455C>TCA645529724OTOFc.1392+7G>A (n.1392+7G>A)
c.1437+7G>A (n.1437+7G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.26483456C>TCA645529725OTOFc.1392+6G>A (n.1392+6G>A)
c.1437+6G>A (n.1437+6G>A)
 gnomAD v4 COSMIC
2g.26483457A>CCA2658239294OTOFc.1392+5T>G (n.1392+5T>G)
c.1437+5T>G (n.1437+5T>G)
 gnomAD v4
2g.26483458G>ACA44402247OTOFc.1392+4C>T (n.1392+4C>T)
c.1437+4C>T (n.1437+4C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26483458G=CA1239830293OTOFc.1392+4C= (n.1392+4C=)
c.1437+4C= (n.1437+4C=)
2g.26483459T>GCA531396492OTOFc.1392+3A>C (n.1392+3A>C)
c.1437+3A>C (n.1437+3A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.26483459T=CA1239830295OTOFc.1392+3A= (n.1392+3A=)
c.1437+3A= (n.1437+3A=)
2g.26483460A>CCA346136172OTOFc.1392+2T>G (n.1392+2T>G)
c.1437+2T>G (n.1437+2T>G)
2g.26483460A>GCA346136174OTOFc.1392+2T>C (n.1392+2T>C)
c.1437+2T>C (n.1437+2T>C)
2g.26483460A>TCA346136173OTOFc.1392+2T>A (n.1392+2T>A)
c.1437+2T>A (n.1437+2T>A)
2g.26483461C>ACA346136175OTOFc.1392+1G>T (n.1392+1G>T)
c.1437+1G>T (n.1437+1G>T)
2g.26483461C>GCA346136176OTOFc.1392+1G>C (n.1392+1G>C)
c.1437+1G>C (n.1437+1G>C)
2g.26483461C>TCA346136177OTOFc.1392+1G>A (n.1392+1G>A)
c.1437+1G>A (n.1437+1G>A)
 dbSNP
2g.26483462delCA2573051921OTOFc.1392+1del
c.1437+1del
 ClinVar dbSNP
2g.26483462C>ACA346136178OTOFc.1392G>T (p.Lys464Asn)
c.1437G>T (p.Lys479Asn)
2g.26483462C>GCA346136179OTOFc.1392G>C (p.Lys464Asn)
c.1437G>C (p.Lys479Asn)
2g.26483462C>TCA425206942OTOFc.1392G>A (p.Lys464=)
c.1437G>A (p.Lys479=)
 gnomAD v4 COSMIC
2g.26483463T>ACA346136180OTOFc.1391A>T (p.Lys464Met)
c.1436A>T (p.Lys479Met)
2g.26483463T>CCA346136182OTOFc.1391A>G (p.Lys464Arg)
c.1436A>G (p.Lys479Arg)
2g.26483463T>GCA346136184OTOFc.1391A>C (p.Lys464Thr)
c.1436A>C (p.Lys479Thr)
2g.26483464T>ACA346136187OTOFc.1390A>T (p.Lys464Ter)
c.1435A>T (p.Lys479Ter)
2g.26483464T>CCA346136189OTOFc.1390A>G (p.Lys464Glu)
c.1435A>G (p.Lys479Glu)
2g.26483464T>GCA346136190OTOFc.1390A>C (p.Lys464Gln)
c.1435A>C (p.Lys479Gln)
2g.26483465C>ACA346136192OTOFc.1389G>T (p.Gln463His)
c.1434G>T (p.Gln478His)
2g.26483465C>GCA346136194OTOFc.1389G>C (p.Gln463His)
c.1434G>C (p.Gln478His)
2g.26483465C>TCA425206950OTOFc.1389G>A (p.Gln463=)
c.1434G>A (p.Gln478=)
 COSMIC
2g.26483466T>ACA346136196OTOFc.1388A>T (p.Gln463Leu)
c.1433A>T (p.Gln478Leu)
2g.26483466T>CCA1564298OTOFc.1388A>G (p.Gln463Arg)
c.1433A>G (p.Gln478Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483466T>GCA346136199OTOFc.1388A>C (p.Gln463Pro)
c.1433A>C (p.Gln478Pro)
2g.26483466T=CA1239830298OTOFc.1388A= (p.Gln463=)
c.1433A= (p.Gln478=)
2g.26483467G>ACA346136203OTOFc.1387C>T (p.Gln463Ter)
c.1432C>T (p.Gln478Ter)
2g.26483467G>CCA346136204OTOFc.1387C>G (p.Gln463Glu)
c.1432C>G (p.Gln478Glu)
2g.26483467G>TCA346136206OTOFc.1387C>A (p.Gln463Lys)
c.1432C>A (p.Gln478Lys)
2g.26483468G>ACA425206951OTOFc.1386C>T (p.Gly462=)
c.1431C>T (p.Gly477=)
 gnomAD v4
2g.26483468G>CCA425206952OTOFc.1386C>G (p.Gly462=)
c.1431C>G (p.Gly477=)
2g.26483468G>TCA425206953OTOFc.1386C>A (p.Gly462=)
c.1431C>A (p.Gly477=)
2g.26483469C>ACA346136208OTOFc.1385G>T (p.Gly462Val)
c.1430G>T (p.Gly477Val)
 COSMIC
2g.26483469C=CA1239830301OTOFc.1385G= (p.Gly462=)
c.1430G= (p.Gly477=)
2g.26483469C>GCA346136210OTOFc.1385G>C (p.Gly462Ala)
c.1430G>C (p.Gly477Ala)
2g.26483469C>TCA44402268OTOFc.1385G>A (p.Gly462Asp)
c.1430G>A (p.Gly477Asp)
 dbSNP
2g.26483470C>ACA346136214OTOFc.1384G>T (p.Gly462Cys)
c.1429G>T (p.Gly477Cys)
2g.26483470C=CA1239830304OTOFc.1384G= (p.Gly462=)
c.1429G= (p.Gly477=)
2g.26483470C>GCA346136216OTOFc.1384G>C (p.Gly462Arg)
c.1429G>C (p.Gly477Arg)
2g.26483470C>TCA1564299OTOFc.1384G>A (p.Gly462Ser)
c.1429G>A (p.Gly477Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483471A>CCA425206955OTOFc.1383T>G (p.Ala461=)
c.1428T>G (p.Ala476=)
2g.26483471A>GCA425206957OTOFc.1383T>C (p.Ala461=)
c.1428T>C (p.Ala476=)
2g.26483471A>TCA425206956OTOFc.1383T>A (p.Ala461=)
c.1428T>A (p.Ala476=)
2g.26483472G>ACA346136224OTOFc.1382C>T (p.Ala461Val)
c.1427C>T (p.Ala476Val)
2g.26483472G>CCA346136226OTOFc.1382C>G (p.Ala461Gly)
c.1427C>G (p.Ala476Gly)
2g.26483472G>TCA346136222OTOFc.1382C>A (p.Ala461Asp)
c.1427C>A (p.Ala476Asp)
2g.26483473C>ACA346136230OTOFc.1381G>T (p.Ala461Ser)
c.1426G>T (p.Ala476Ser)
2g.26483473C=CA1239830307OTOFc.1381G= (p.Ala461=)
c.1426G= (p.Ala476=)
2g.26483473C>GCA346136232OTOFc.1381G>C (p.Ala461Pro)
c.1426G>C (p.Ala476Pro)
2g.26483473C>TCA346136234OTOFc.1381G>A (p.Ala461Thr)
c.1426G>A (p.Ala476Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.26483474A=CA1239830310OTOFc.1380T= (p.Phe460=)
c.1425T= (p.Phe475=)
2g.26483474A>CCA346136236OTOFc.1380T>G (p.Phe460Leu)
c.1425T>G (p.Phe475Leu)
2g.26483474A>GCA44402274OTOFc.1380T>C (p.Phe460=)
c.1425T>C (p.Phe475=)
 dbSNP gnomAD v3 gnomAD v4
2g.26483474A>TCA346136237OTOFc.1380T>A (p.Phe460Leu)
c.1425T>A (p.Phe475Leu)
2g.26483474_26483477delinsAAAGCA1239830311OTOFc.1377_1380delinsCTTT (p.Phe459=)
c.1422_1425delinsCTTT (p.Phe474=)
2g.26483475A>CCA346136245OTOFc.1379T>G (p.Phe460Cys)
c.1424T>G (p.Phe475Cys)
2g.26483475A>GCA346136240OTOFc.1379T>C (p.Phe460Ser)
c.1424T>C (p.Phe475Ser)
 gnomAD v4
2g.26483475A>TCA346136243OTOFc.1379T>A (p.Phe460Tyr)
c.1424T>A (p.Phe475Tyr)
2g.26483479_26483481delCA1239830313OTOFc.1377_1379del (p.Phe460del)
c.1422_1424del (p.Phe475del)
 dbSNP gnomAD v4
2g.26483476A>CCA346136249OTOFc.1378T>G (p.Phe460Val)
c.1423T>G (p.Phe475Val)
2g.26483476A>GCA346136252OTOFc.1378T>C (p.Phe460Leu)
c.1423T>C (p.Phe475Leu)
 ClinVar
2g.26483476A>TCA346136253OTOFc.1378T>A (p.Phe460Ile)
c.1423T>A (p.Phe475Ile)
2g.26483477G>ACA425206960OTOFc.1377C>T (p.Phe459=)
c.1422C>T (p.Phe474=)
 COSMIC
2g.26483477G>CCA346136256OTOFc.1377C>G (p.Phe459Leu)
c.1422C>G (p.Phe474Leu)
2g.26483477G=CA1239830315OTOFc.1377C= (p.Phe459=)
c.1422C= (p.Phe474=)
2g.26483477G>TCA346136258OTOFc.1377C>A (p.Phe459Leu)
c.1422C>A (p.Phe474Leu)
 dbSNP
2g.26483478A>CCA346136261OTOFc.1376T>G (p.Phe459Cys)
c.1421T>G (p.Phe474Cys)
2g.26483478A>GCA346136265OTOFc.1376T>C (p.Phe459Ser)
c.1421T>C (p.Phe474Ser)
2g.26483478A>TCA346136264OTOFc.1376T>A (p.Phe459Tyr)
c.1421T>A (p.Phe474Tyr)
2g.26483479A=CA1239830317OTOFc.1375T= (p.Phe459=)
c.1420T= (p.Phe474=)
2g.26483479A>CCA44402287OTOFc.1375T>G (p.Phe459Val)
c.1420T>G (p.Phe474Val)
 dbSNP gnomAD v3 gnomAD v4
2g.26483479A>GCA44402291OTOFc.1375T>C (p.Phe459Leu)
c.1420T>C (p.Phe474Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26483479A>TCA346136271OTOFc.1375T>A (p.Phe459Ile)
c.1420T>A (p.Phe474Ile)
2g.26483480G>ACA425206961OTOFc.1374C>T (p.Val458=)
c.1419C>T (p.Val473=)
 gnomAD v4
2g.26483480G>CCA425206962OTOFc.1374C>G (p.Val458=)
c.1419C>G (p.Val473=)
2g.26483480G>TCA425206963OTOFc.1374C>A (p.Val458=)
c.1419C>A (p.Val473=)
2g.26483481A=CA1239830321OTOFc.1373T= (p.Val458=)
c.1418T= (p.Val473=)
2g.26483481A>CCA346136275OTOFc.1373T>G (p.Val458Gly)
c.1418T>G (p.Val473Gly)
2g.26483481A>GCA346136281OTOFc.1373T>C (p.Val458Ala)
c.1418T>C (p.Val473Ala)
2g.26483481A>TCA346136278OTOFc.1373T>A (p.Val458Asp)
c.1418T>A (p.Val473Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26483482C>ACA346136284OTOFc.1372G>T (p.Val458Phe)
c.1417G>T (p.Val473Phe)
2g.26483482C=CA1239830325OTOFc.1372G= (p.Val458=)
c.1417G= (p.Val473=)
2g.26483482C>GCA1564300OTOFc.1372G>C (p.Val458Leu)
c.1417G>C (p.Val473Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483482C>TCA1564301OTOFc.1372G>A (p.Val458Ile)
c.1417G>A (p.Val473Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483483T>ACA346136291OTOFc.1371A>T (p.Gln457His)
c.1416A>T (p.Gln472His)
2g.26483483T>CCA1564302OTOFc.1371A>G (p.Gln457=)
c.1416A>G (p.Gln472=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483483T>GCA346136294OTOFc.1371A>C (p.Gln457His)
c.1416A>C (p.Gln472His)
2g.26483483T=CA1239830328OTOFc.1371A= (p.Gln457=)
c.1416A= (p.Gln472=)
2g.26483484T>ACA346136298OTOFc.1370A>T (p.Gln457Leu)
c.1415A>T (p.Gln472Leu)
2g.26483484T>CCA346136300OTOFc.1370A>G (p.Gln457Arg)
c.1415A>G (p.Gln472Arg)
2g.26483484T>GCA346136301OTOFc.1370A>C (p.Gln457Pro)
c.1415A>C (p.Gln472Pro)
2g.26483485G>ACA346136304OTOFc.1369C>T (p.Gln457Ter)
c.1414C>T (p.Gln472Ter)
2g.26483485G>CCA346136306OTOFc.1369C>G (p.Gln457Glu)
c.1414C>G (p.Gln472Glu)
2g.26483485G>TCA346136309OTOFc.1369C>A (p.Gln457Lys)
c.1414C>A (p.Gln472Lys)
 COSMIC
2g.26483486C>ACA425206970OTOFc.1368G>T (p.Val456=)
c.1413G>T (p.Val471=)
2g.26483486C>GCA425206971OTOFc.1368G>C (p.Val456=)
c.1413G>C (p.Val471=)
2g.26483486C>TCA425206973OTOFc.1368G>A (p.Val456=)
c.1413G>A (p.Val471=)
2g.26483487A>CCA346136316OTOFc.1367T>G (p.Val456Gly)
c.1412T>G (p.Val471Gly)
2g.26483487A>GCA346136314OTOFc.1367T>C (p.Val456Ala)
c.1412T>C (p.Val471Ala)
2g.26483487A>TCA346136312OTOFc.1367T>A (p.Val456Glu)
c.1412T>A (p.Val471Glu)
2g.26483488C>ACA346136320OTOFc.1366G>T (p.Val456Leu)
c.1411G>T (p.Val471Leu)
2g.26483488C=CA1239830331OTOFc.1366G= (p.Val456=)
c.1411G= (p.Val471=)
2g.26483488C>GCA346136322OTOFc.1366G>C (p.Val456Leu)
c.1411G>C (p.Val471Leu)
2g.26483488C>TCA1564303OTOFc.1366G>A (p.Val456Met)
c.1411G>A (p.Val471Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26483488_26483490delinsGCAACA2573051922OTOFc.1364_1366delinsTTGC (p.Tyr455PhefsTer21)
c.1409_1411delinsTTGC (p.Tyr470PhefsTer21)
 ClinVar dbSNP
2g.26483489G>ACA1564304OTOFc.1365C>T (p.Tyr455=)
c.1410C>T (p.Tyr470=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483489G>CCA346136323OTOFc.1365C>G (p.Tyr455Ter)
c.1410C>G (p.Tyr470Ter)
2g.26483489G=CA1239830336OTOFc.1365C= (p.Tyr455=)
c.1410C= (p.Tyr470=)
2g.26483489G>TCA1564305OTOFc.1365C>A (p.Tyr455Ter)
c.1410C>A (p.Tyr470Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26483490T>ACA346136326OTOFc.1364A>T (p.Tyr455Phe)
c.1409A>T (p.Tyr470Phe)
2g.26483490T>CCA346136327OTOFc.1364A>G (p.Tyr455Cys)
c.1409A>G (p.Tyr470Cys)
2g.26483490T>GCA346136329OTOFc.1364A>C (p.Tyr455Ser)
c.1409A>C (p.Tyr470Ser)
2g.26483491A>CCA346136331OTOFc.1363T>G (p.Tyr455Asp)
c.1408T>G (p.Tyr470Asp)
2g.26483491A>GCA346136334OTOFc.1363T>C (p.Tyr455His)
c.1408T>C (p.Tyr470His)
2g.26483491A>TCA346136337OTOFc.1363T>A (p.Tyr455Asn)
c.1408T>A (p.Tyr470Asn)
 gnomAD v4
2g.26483492G>ACA425206978OTOFc.1362C>T (p.Pro454=)
c.1407C>T (p.Pro469=)
2g.26483492G>CCA425206979OTOFc.1362C>G (p.Pro454=)
c.1407C>G (p.Pro469=)
2g.26483492G>TCA425206977OTOFc.1362C>A (p.Pro454=)
c.1407C>A (p.Pro469=)
 gnomAD v4
2g.26483493G>ACA346136340OTOFc.1361C>T (p.Pro454Leu)
c.1406C>T (p.Pro469Leu)
 gnomAD v4
2g.26483493G>CCA346136344OTOFc.1361C>G (p.Pro454Arg)
c.1406C>G (p.Pro469Arg)
2g.26483493G>TCA346136342OTOFc.1361C>A (p.Pro454His)
c.1406C>A (p.Pro469His)
 COSMIC
2g.26483494G>ACA346136347OTOFc.1360C>T (p.Pro454Ser)
c.1405C>T (p.Pro469Ser)
2g.26483494G>CCA346136349OTOFc.1360C>G (p.Pro454Ala)
c.1405C>G (p.Pro469Ala)
2g.26483494G>TCA346136350OTOFc.1360C>A (p.Pro454Thr)
c.1405C>A (p.Pro469Thr)
2g.26483495G>ACA425206983OTOFc.1359C>T (p.Asp453=)
c.1404C>T (p.Asp468=)
 dbSNP
2g.26483495G>CCA346136353OTOFc.1359C>G (p.Asp453Glu)
c.1404C>G (p.Asp468Glu)
2g.26483495G=CA1239830350OTOFc.1359C= (p.Asp453=)
c.1404C= (p.Asp468=)
2g.26483495G>TCA346136355OTOFc.1359C>A (p.Asp453Glu)
c.1404C>A (p.Asp468Glu)
2g.26483496T>ACA346136359OTOFc.1358A>T (p.Asp453Val)
c.1403A>T (p.Asp468Val)
2g.26483496T>CCA346136361OTOFc.1358A>G (p.Asp453Gly)
c.1403A>G (p.Asp468Gly)
2g.26483496T>GCA346136363OTOFc.1358A>C (p.Asp453Ala)
c.1403A>C (p.Asp468Ala)
2g.26483497C>ACA346136366OTOFc.1357G>T (p.Asp453Tyr)
c.1402G>T (p.Asp468Tyr)
2g.26483497C=CA1239830351OTOFc.1357G= (p.Asp453=)
c.1402G= (p.Asp468=)
2g.26483497C>GCA346136369OTOFc.1357G>C (p.Asp453His)
c.1402G>C (p.Asp468His)
2g.26483497C>TCA1564306OTOFc.1357G>A (p.Asp453Asn)
c.1402G>A (p.Asp468Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483498C>ACA425206987OTOFc.1356G>T (p.Val452=)
c.1401G>T (p.Val467=)
2g.26483498C>GCA425206988OTOFc.1356G>C (p.Val452=)
c.1401G>C (p.Val467=)
2g.26483498C>TCA425206989OTOFc.1356G>A (p.Val452=)
c.1401G>A (p.Val467=)
2g.26483499A>CCA346136379OTOFc.1355T>G (p.Val452Gly)
c.1400T>G (p.Val467Gly)
2g.26483499A>GCA346136374OTOFc.1355T>C (p.Val452Ala)
c.1400T>C (p.Val467Ala)
2g.26483499A>TCA346136377OTOFc.1355T>A (p.Val452Glu)
c.1400T>A (p.Val467Glu)
2g.26483500C>ACA346136382OTOFc.1354G>T (p.Val452Leu)
c.1399G>T (p.Val467Leu)
2g.26483500C=CA1239830355OTOFc.1354G= (p.Val452=)
c.1399G= (p.Val467=)
2g.26483500C>GCA1564307OTOFc.1354G>C (p.Val452Leu)
c.1399G>C (p.Val467Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483500C>TCA346136385OTOFc.1354G>A (p.Val452Met)
c.1399G>A (p.Val467Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.26483501G>ACA44402313OTOFc.1353C>T (p.Leu451=)
c.1398C>T (p.Leu466=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26483501G>CCA425206994OTOFc.1353C>G (p.Leu451=)
c.1398C>G (p.Leu466=)
 COSMIC
2g.26483501G=CA1239830357OTOFc.1353C= (p.Leu451=)
c.1398C= (p.Leu466=)
2g.26483501G>TCA425206995OTOFc.1353C>A (p.Leu451=)
c.1398C>A (p.Leu466=)
2g.26483502A>CCA346136389OTOFc.1352T>G (p.Leu451Arg)
c.1397T>G (p.Leu466Arg)
2g.26483502A>GCA346136391OTOFc.1352T>C (p.Leu451Pro)
c.1397T>C (p.Leu466Pro)
2g.26483502A>TCA346136393OTOFc.1352T>A (p.Leu451His)
c.1397T>A (p.Leu466His)
2g.26483503G>ACA346136395OTOFc.1351C>T (p.Leu451Phe)
c.1396C>T (p.Leu466Phe)
2g.26483503G>CCA346136398OTOFc.1351C>G (p.Leu451Val)
c.1396C>G (p.Leu466Val)
2g.26483503G>TCA346136400OTOFc.1351C>A (p.Leu451Ile)
c.1396C>A (p.Leu466Ile)
2g.26483504G>ACA425207000OTOFc.1350C>T (p.Asp450=)
c.1395C>T (p.Asp465=)
2g.26483504G>CCA1564308OTOFc.1350C>G (p.Asp450Glu)
c.1395C>G (p.Asp465Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483504G=CA1239830359OTOFc.1350C= (p.Asp450=)
c.1395C= (p.Asp465=)
2g.26483504G>TCA346136403OTOFc.1350C>A (p.Asp450Glu)
c.1395C>A (p.Asp465Glu)
2g.26483505T>ACA346136408OTOFc.1349A>T (p.Asp450Val)
c.1394A>T (p.Asp465Val)
2g.26483505T>CCA346136411OTOFc.1349A>G (p.Asp450Gly)
c.1394A>G (p.Asp465Gly)
2g.26483505T>GCA346136406OTOFc.1349A>C (p.Asp450Ala)
c.1394A>C (p.Asp465Ala)
2g.26483506C>ACA346136418OTOFc.1348G>T (p.Asp450Tyr)
c.1393G>T (p.Asp465Tyr)
 COSMIC
2g.26483506C=CA1239830363OTOFc.1348G= (p.Asp450=)
c.1393G= (p.Asp465=)
2g.26483506C>GCA346136414OTOFc.1348G>C (p.Asp450His)
c.1393G>C (p.Asp465His)
2g.26483506C>TCA1564309OTOFc.1348G>A (p.Asp450Asn)
c.1393G>A (p.Asp465Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483507C>ACA346136421OTOFc.1347G>T (p.Lys449Asn)
c.1392G>T (p.Lys464Asn)
2g.26483507C>GCA346136423OTOFc.1347G>C (p.Lys449Asn)
c.1392G>C (p.Lys464Asn)
2g.26483507C>TCA425207004OTOFc.1347G>A (p.Lys449=)
c.1392G>A (p.Lys464=)
2g.26483508T>ACA346136427OTOFc.1346A>T (p.Lys449Met)
c.1391A>T (p.Lys464Met)
2g.26483508T>CCA346136430OTOFc.1346A>G (p.Lys449Arg)
c.1391A>G (p.Lys464Arg)
 dbSNP
2g.26483508T>GCA346136432OTOFc.1346A>C (p.Lys449Thr)
c.1391A>C (p.Lys464Thr)
2g.26483508T=CA1239830365OTOFc.1346A= (p.Lys449=)
c.1391A= (p.Lys464=)
2g.26483509T>ACA346136436OTOFc.1345A>T (p.Lys449Ter)
c.1390A>T (p.Lys464Ter)
2g.26483509T>CCA346136439OTOFc.1345A>G (p.Lys449Glu)
c.1390A>G (p.Lys464Glu)
 gnomAD v4
2g.26483509T>GCA346136441OTOFc.1345A>C (p.Lys449Gln)
c.1390A>C (p.Lys464Gln)
2g.26483510G>ACA425207008OTOFc.1344C>T (p.Asn448=)
c.1389C>T (p.Asn463=)
 gnomAD v4
2g.26483510G>CCA346136442OTOFc.1344C>G (p.Asn448Lys)
c.1389C>G (p.Asn463Lys)
 gnomAD v4
2g.26483510G=CA1239830368OTOFc.1344C= (p.Asn448=)
c.1389C= (p.Asn463=)
2g.26483510G>TCA1564310OTOFc.1344C>A (p.Asn448Lys)
c.1389C>A (p.Asn463Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483511T>ACA346136449OTOFc.1343A>T (p.Asn448Ile)
c.1388A>T (p.Asn463Ile)
2g.26483511T>CCA346136445OTOFc.1343A>G (p.Asn448Ser)
c.1388A>G (p.Asn463Ser)
 COSMIC
2g.26483511T>GCA346136447OTOFc.1343A>C (p.Asn448Thr)
c.1388A>C (p.Asn463Thr)
2g.26483512T>ACA346136452OTOFc.1342A>T (p.Asn448Tyr)
c.1387A>T (p.Asn463Tyr)
2g.26483512T>CCA346136454OTOFc.1342A>G (p.Asn448Asp)
c.1387A>G (p.Asn463Asp)
2g.26483512T>GCA346136457OTOFc.1342A>C (p.Asn448His)
c.1387A>C (p.Asn463His)
2g.26483513T>ACA346136458OTOFc.1341A>T (p.Glu447Asp)
c.1386A>T (p.Glu462Asp)
2g.26483513T>CCA425207010OTOFc.1341A>G (p.Glu447=)
c.1386A>G (p.Glu462=)
2g.26483513T>GCA346136460OTOFc.1341A>C (p.Glu447Asp)
c.1386A>C (p.Glu462Asp)
2g.26483514T>ACA346136462OTOFc.1340A>T (p.Glu447Val)
c.1385A>T (p.Glu462Val)
2g.26483514T>CCA346136465OTOFc.1340A>G (p.Glu447Gly)
c.1385A>G (p.Glu462Gly)
2g.26483514T>GCA346136467OTOFc.1340A>C (p.Glu447Ala)
c.1385A>C (p.Glu462Ala)
2g.26483515C>ACA346136472OTOFc.1339G>T (p.Glu447Ter)
c.1384G>T (p.Glu462Ter)
2g.26483515C>GCA346136473OTOFc.1339G>C (p.Glu447Gln)
c.1384G>C (p.Glu462Gln)
2g.26483515C>TCA346136475OTOFc.1339G>A (p.Glu447Lys)
c.1384G>A (p.Glu462Lys)
 COSMIC
2g.26483516A>CCA425207012OTOFc.1338T>G (p.Gly446=)
c.1383T>G (p.Gly461=)
2g.26483516A>GCA425207013OTOFc.1338T>C (p.Gly446=)
c.1383T>C (p.Gly461=)
 ClinVar gnomAD v4
2g.26483516A>TCA425207014OTOFc.1338T>A (p.Gly446=)
c.1383T>A (p.Gly461=)
2g.26483517C>ACA346136478OTOFc.1337G>T (p.Gly446Val)
c.1382G>T (p.Gly461Val)
2g.26483517C>GCA346136480OTOFc.1337G>C (p.Gly446Ala)
c.1382G>C (p.Gly461Ala)
2g.26483517C>TCA346136476OTOFc.1337G>A (p.Gly446Asp)
c.1382G>A (p.Gly461Asp)
 COSMIC
2g.26483518C>ACA346136485OTOFc.1336G>T (p.Gly446Cys)
c.1381G>T (p.Gly461Cys)
2g.26483518C=CA1239830370OTOFc.1336G= (p.Gly446=)
c.1381G= (p.Gly461=)
2g.26483518C>GCA346136487OTOFc.1336G>C (p.Gly446Arg)
c.1381G>C (p.Gly461Arg)
2g.26483518C>TCA1564311OTOFc.1336G>A (p.Gly446Ser)
c.1381G>A (p.Gly461Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
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)
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=)

Number of alleles fetched