Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
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)
2g.26483543C>ACA346136642OTOFc.1311G>T (p.Met437Ile)
c.1356G>T (p.Met452Ile)
2g.26483543C=CA1239830389OTOFc.1311G= (p.Met437=)
c.1356G= (p.Met452=)
2g.26483543C>GCA346136644OTOFc.1311G>C (p.Met437Ile)
c.1356G>C (p.Met452Ile)
2g.26483543C>TCA346136639OTOFc.1311G>A (p.Met437Ile)
c.1356G>A (p.Met452Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.26483544A=CA1239830391OTOFc.1310T= (p.Met437=)
c.1355T= (p.Met452=)
2g.26483544A>CCA346136647OTOFc.1310T>G (p.Met437Arg)
c.1355T>G (p.Met452Arg)
2g.26483544A>GCA346136649OTOFc.1310T>C (p.Met437Thr)
c.1355T>C (p.Met452Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.26483544A>TCA346136650OTOFc.1310T>A (p.Met437Lys)
c.1355T>A (p.Met452Lys)
2g.26483545T>ACA346136651OTOFc.1309A>T (p.Met437Leu)
c.1354A>T (p.Met452Leu)
2g.26483545T>CCA346136652OTOFc.1309A>G (p.Met437Val)
c.1354A>G (p.Met452Val)
 gnomAD v4
2g.26483545T>GCA346136653OTOFc.1309A>C (p.Met437Leu)
c.1354A>C (p.Met452Leu)
2g.26483546G>ACA425207048OTOFc.1308C>T (p.Leu436=)
c.1353C>T (p.Leu451=)
2g.26483546G>CCA425207049OTOFc.1308C>G (p.Leu436=)
c.1353C>G (p.Leu451=)
2g.26483546G=CA1239830392OTOFc.1308C= (p.Leu436=)
c.1353C= (p.Leu451=)
2g.26483546G>TCA425207050OTOFc.1308C>A (p.Leu436=)
c.1353C>A (p.Leu451=)
 ClinVar dbSNP
2g.26483547A>CCA346136654OTOFc.1307T>G (p.Leu436Arg)
c.1352T>G (p.Leu451Arg)
2g.26483547A>GCA346136655OTOFc.1307T>C (p.Leu436Pro)
c.1352T>C (p.Leu451Pro)
2g.26483547A>TCA346136656OTOFc.1307T>A (p.Leu436His)
c.1352T>A (p.Leu451His)
2g.26483548G>ACA1564315OTOFc.1306C>T (p.Leu436Phe)
c.1351C>T (p.Leu451Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483548G>CCA346136657OTOFc.1306C>G (p.Leu436Val)
c.1351C>G (p.Leu451Val)
2g.26483548G=CA1239830394OTOFc.1306C= (p.Leu436=)
c.1351C= (p.Leu451=)
2g.26483548G>TCA346136658OTOFc.1306C>A (p.Leu436Ile)
c.1351C>A (p.Leu451Ile)
2g.26483549G>ACA1564316OTOFc.1305C>T (p.Ser435=)
c.1350C>T (p.Ser450=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.26483549G>CCA346136660OTOFc.1305C>G (p.Ser435Arg)
c.1350C>G (p.Ser450Arg)
2g.26483549G=CA1239830396OTOFc.1305C= (p.Ser435=)
c.1350C= (p.Ser450=)
2g.26483549G>TCA346136659OTOFc.1305C>A (p.Ser435Arg)
c.1350C>A (p.Ser450Arg)
2g.26483550C>ACA346136661OTOFc.1304G>T (p.Ser435Ile)
c.1349G>T (p.Ser450Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.26483550C=CA1239830398OTOFc.1304G= (p.Ser435=)
c.1349G= (p.Ser450=)
2g.26483550C>GCA346136662OTOFc.1304G>C (p.Ser435Thr)
c.1349G>C (p.Ser450Thr)
2g.26483550C>TCA346136663OTOFc.1304G>A (p.Ser435Asn)
c.1349G>A (p.Ser450Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.26483551T>ACA346136664OTOFc.1303A>T (p.Ser435Cys)
c.1348A>T (p.Ser450Cys)
2g.26483551T>CCA1564317OTOFc.1303A>G (p.Ser435Gly)
c.1348A>G (p.Ser450Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483551T>GCA346136665OTOFc.1303A>C (p.Ser435Arg)
c.1348A>C (p.Ser450Arg)
2g.26483551T=CA1239830400OTOFc.1303A= (p.Ser435=)
c.1348A= (p.Ser450=)
2g.26483552_26483560delCA2594512182OTOFc.1295_1303del (p.Met432_Thr434del)
c.1340_1348del (p.Met447_Thr449del)
 gnomAD v3 gnomAD v4
2g.26483552T>ACA425207053OTOFc.1302A>T (p.Thr434=)
c.1347A>T (p.Thr449=)
2g.26483552T>CCA425207054OTOFc.1302A>G (p.Thr434=)
c.1347A>G (p.Thr449=)
2g.26483552T>GCA425207055OTOFc.1302A>C (p.Thr434=)
c.1347A>C (p.Thr449=)
2g.26483553G>ACA346136668OTOFc.1301C>T (p.Thr434Ile)
c.1346C>T (p.Thr449Ile)
2g.26483553G>CCA346136666OTOFc.1301C>G (p.Thr434Arg)
c.1346C>G (p.Thr449Arg)
2g.26483553G>TCA346136667OTOFc.1301C>A (p.Thr434Lys)
c.1346C>A (p.Thr449Lys)
2g.26483554T>ACA346136669OTOFc.1300A>T (p.Thr434Ser)
c.1345A>T (p.Thr449Ser)
2g.26483554T>CCA44402369OTOFc.1300A>G (p.Thr434Ala)
c.1345A>G (p.Thr449Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26483554T>GCA346136670OTOFc.1300A>C (p.Thr434Pro)
c.1345A>C (p.Thr449Pro)
2g.26483554T=CA1239830401OTOFc.1300A= (p.Thr434=)
c.1345A= (p.Thr449=)
2g.26483555G>ACA425207056OTOFc.1299C>T (p.Asn433=)
c.1344C>T (p.Asn448=)
2g.26483555G>CCA346136671OTOFc.1299C>G (p.Asn433Lys)
c.1344C>G (p.Asn448Lys)
2g.26483555G=CA1239830402OTOFc.1299C= (p.Asn433=)
c.1344C= (p.Asn448=)
2g.26483555G>TCA346136672OTOFc.1299C>A (p.Asn433Lys)
c.1344C>A (p.Asn448Lys)
2g.26483556T>ACA44402375OTOFc.1298A>T (p.Asn433Ile)
c.1343A>T (p.Asn448Ile)
 dbSNP gnomAD v4
2g.26483556T>CCA346136674OTOFc.1298A>G (p.Asn433Ser)
c.1343A>G (p.Asn448Ser)
2g.26483556T>GCA346136673OTOFc.1298A>C (p.Asn433Thr)
c.1343A>C (p.Asn448Thr)
2g.26483556T=CA1239830405OTOFc.1298A= (p.Asn433=)
c.1343A= (p.Asn448=)
2g.26483557_26483560dupCA767290958OTOFc.1295_1298dup (p.Thr434GlufsTer15)
c.1340_1343dup (p.Thr449GlufsTer15)
 dbSNP gnomAD v4
2g.26483557T>ACA346136675OTOFc.1297A>T (p.Asn433Tyr)
c.1342A>T (p.Asn448Tyr)
2g.26483557T>CCA346136676OTOFc.1297A>G (p.Asn433Asp)
c.1342A>G (p.Asn448Asp)
2g.26483557T>GCA346136677OTOFc.1297A>C (p.Asn433His)
c.1342A>C (p.Asn448His)
2g.26483558C>ACA346136678OTOFc.1296G>T (p.Met432Ile)
c.1341G>T (p.Met447Ile)
2g.26483558C>GCA346136679OTOFc.1296G>C (p.Met432Ile)
c.1341G>C (p.Met447Ile)
2g.26483558C>TCA346136680OTOFc.1296G>A (p.Met432Ile)
c.1341G>A (p.Met447Ile)
2g.26483559A=CA1239830407OTOFc.1295T= (p.Met432=)
c.1340T= (p.Met447=)
2g.26483559A>CCA346136682OTOFc.1295T>G (p.Met432Arg)
c.1340T>G (p.Met447Arg)
 COSMIC
2g.26483559A>GCA44402391OTOFc.1295T>C (p.Met432Thr)
c.1340T>C (p.Met447Thr)
 dbSNP gnomAD v4
2g.26483559A>TCA346136681OTOFc.1295T>A (p.Met432Lys)
c.1340T>A (p.Met447Lys)
2g.26483560T>ACA346136683OTOFc.1294A>T (p.Met432Leu)
c.1339A>T (p.Met447Leu)
2g.26483560T>CCA346136684OTOFc.1294A>G (p.Met432Val)
c.1339A>G (p.Met447Val)
 gnomAD v4
2g.26483560T>GCA346136685OTOFc.1294A>C (p.Met432Leu)
c.1339A>C (p.Met447Leu)
2g.26483561A>CCA425207065OTOFc.1293T>G (p.Arg431=)
c.1338T>G (p.Arg446=)
2g.26483561A>GCA425207064OTOFc.1293T>C (p.Arg431=)
c.1338T>C (p.Arg446=)
2g.26483561A>TCA425207063OTOFc.1293T>A (p.Arg431=)
c.1338T>A (p.Arg446=)
2g.26483562C>ACA346136686OTOFc.1292G>T (p.Arg431Leu)
c.1337G>T (p.Arg446Leu)
 gnomAD v4
2g.26483562C=CA1239830409OTOFc.1292G= (p.Arg431=)
c.1337G= (p.Arg446=)
2g.26483562C>GCA346136688OTOFc.1292G>C (p.Arg431Pro)
c.1337G>C (p.Arg446Pro)
2g.26483562C>TCA346136690OTOFc.1292G>A (p.Arg431His)
c.1337G>A (p.Arg446His)
 dbSNP gnomAD v4
2g.26483563G>ACA1564318OTOFc.1291C>T (p.Arg431Cys)
c.1336C>T (p.Arg446Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.26483563G>CCA346136693OTOFc.1291C>G (p.Arg431Gly)
c.1336C>G (p.Arg446Gly)
2g.26483563G=CA1239830412OTOFc.1291C= (p.Arg431=)
c.1336C= (p.Arg446=)
2g.26483563G>TCA346136696OTOFc.1291C>A (p.Arg431Ser)
c.1336C>A (p.Arg446Ser)
2g.26483564G>ACA425207068OTOFc.1290C>T (p.Pro430=)
c.1335C>T (p.Pro445=)
 gnomAD v4
2g.26483564G>CCA425207069OTOFc.1290C>G (p.Pro430=)
c.1335C>G (p.Pro445=)
2g.26483564G>TCA425207070OTOFc.1290C>A (p.Pro430=)
c.1335C>A (p.Pro445=)
2g.26483565G>ACA346136701OTOFc.1289C>T (p.Pro430Leu)
c.1334C>T (p.Pro445Leu)
2g.26483565G>CCA346136704OTOFc.1289C>G (p.Pro430Arg)
c.1334C>G (p.Pro445Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.26483565G=CA1239830413OTOFc.1289C= (p.Pro430=)
c.1334C= (p.Pro445=)
2g.26483565G>TCA346136707OTOFc.1289C>A (p.Pro430His)
c.1334C>A (p.Pro445His)
2g.26483566G>ACA346136710OTOFc.1288C>T (p.Pro430Ser)
c.1333C>T (p.Pro445Ser)
2g.26483566G>CCA346136713OTOFc.1288C>G (p.Pro430Ala)
c.1333C>G (p.Pro445Ala)
2g.26483566G>TCA346136716OTOFc.1288C>A (p.Pro430Thr)
c.1333C>A (p.Pro445Thr)
2g.26483567C>ACA425207072OTOFc.1287G>T (p.Leu429=)
c.1332G>T (p.Leu444=)
2g.26483567C>GCA425207075OTOFc.1287G>C (p.Leu429=)
c.1332G>C (p.Leu444=)
2g.26483567C>TCA425207073OTOFc.1287G>A (p.Leu429=)
c.1332G>A (p.Leu444=)
2g.26483568A>CCA346136719OTOFc.1286T>G (p.Leu429Arg)
c.1331T>G (p.Leu444Arg)
2g.26483568A>GCA346136721OTOFc.1286T>C (p.Leu429Pro)
c.1331T>C (p.Leu444Pro)
2g.26483568A>TCA346136723OTOFc.1286T>A (p.Leu429Gln)
c.1331T>A (p.Leu444Gln)
2g.26483569G>ACA1564319OTOFc.1285C>T (p.Leu429=)
c.1330C>T (p.Leu444=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483569G>CCA346136726OTOFc.1285C>G (p.Leu429Val)
c.1330C>G (p.Leu444Val)
2g.26483569G=CA1239830414OTOFc.1285C= (p.Leu429=)
c.1330C= (p.Leu444=)
2g.26483569G>TCA346136728OTOFc.1285C>A (p.Leu429Met)
c.1330C>A (p.Leu444Met)
2g.26483570C>ACA425207078OTOFc.1284G>T (p.Gly428=)
c.1329G>T (p.Gly443=)
2g.26483570C=CA1239830415OTOFc.1284G= (p.Gly428=)
c.1329G= (p.Gly443=)
2g.26483570C>GCA1564320OTOFc.1284G>C (p.Gly428=)
c.1329G>C (p.Gly443=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483570C>TCA425207079OTOFc.1284G>A (p.Gly428=)
c.1329G>A (p.Gly443=)
2g.26483571C>ACA346136731OTOFc.1283G>T (p.Gly428Val)
c.1328G>T (p.Gly443Val)
2g.26483571C=CA1239830416OTOFc.1283G= (p.Gly428=)
c.1328G= (p.Gly443=)
2g.26483571C>GCA1564321OTOFc.1283G>C (p.Gly428Ala)
c.1328G>C (p.Gly443Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483571C>TCA346136733OTOFc.1283G>A (p.Gly428Glu)
c.1328G>A (p.Gly443Glu)
2g.26483572C>ACA346136738OTOFc.1282G>T (p.Gly428Trp)
c.1327G>T (p.Gly443Trp)
2g.26483572C>GCA346136741OTOFc.1282G>C (p.Gly428Arg)
c.1327G>C (p.Gly443Arg)
2g.26483572C>TCA346136743OTOFc.1282G>A (p.Gly428Arg)
c.1327G>A (p.Gly443Arg)
2g.26483573C>ACA346136745OTOFc.1281G>T (p.Glu427Asp)
c.1326G>T (p.Glu442Asp)
2g.26483573C>GCA346136747OTOFc.1281G>C (p.Glu427Asp)
c.1326G>C (p.Glu442Asp)
2g.26483573C>TCA425207082OTOFc.1281G>A (p.Glu427=)
c.1326G>A (p.Glu442=)
2g.26483574T>ACA346136755OTOFc.1280A>T (p.Glu427Val)
c.1325A>T (p.Glu442Val)
 COSMIC
2g.26483574T>CCA346136753OTOFc.1280A>G (p.Glu427Gly)
c.1325A>G (p.Glu442Gly)
2g.26483574T>GCA346136751OTOFc.1280A>C (p.Glu427Ala)
c.1325A>C (p.Glu442Ala)
2g.26483575C>ACA346136757OTOFc.1279G>T (p.Glu427Ter)
c.1324G>T (p.Glu442Ter)
2g.26483575C>GCA346136759OTOFc.1279G>C (p.Glu427Gln)
c.1324G>C (p.Glu442Gln)
 gnomAD v4
2g.26483575C>TCA346136760OTOFc.1279G>A (p.Glu427Lys)
c.1324G>A (p.Glu442Lys)
2g.26483576T>ACA425207089OTOFc.1278A>T (p.Ala426=)
c.1323A>T (p.Ala441=)
2g.26483576T>CCA425207091OTOFc.1278A>G (p.Ala426=)
c.1323A>G (p.Ala441=)
2g.26483576T>GCA425207092OTOFc.1278A>C (p.Ala426=)
c.1323A>C (p.Ala441=)
2g.26483577G>ACA346136761OTOFc.1277C>T (p.Ala426Val)
c.1322C>T (p.Ala441Val)
2g.26483577G>CCA346136762OTOFc.1277C>G (p.Ala426Gly)
c.1322C>G (p.Ala441Gly)
2g.26483577G>TCA346136764OTOFc.1277C>A (p.Ala426Glu)
c.1322C>A (p.Ala441Glu)
2g.26483578C>ACA346136767OTOFc.1276G>T (p.Ala426Ser)
c.1321G>T (p.Ala441Ser)
2g.26483578C=CA1239830417OTOFc.1276G= (p.Ala426=)
c.1321G= (p.Ala441=)
2g.26483578C>GCA346136770OTOFc.1276G>C (p.Ala426Pro)
c.1321G>C (p.Ala441Pro)
 dbSNP gnomAD v4
2g.26483578C>TCA346136768OTOFc.1276G>A (p.Ala426Thr)
c.1321G>A (p.Ala441Thr)
2g.26483579T>ACA425207097OTOFc.1275A>T (p.Arg425=)
c.1320A>T (p.Arg440=)
2g.26483579T>CCA425207098OTOFc.1275A>G (p.Arg425=)
c.1320A>G (p.Arg440=)
2g.26483579T>GCA425207099OTOFc.1275A>C (p.Arg425=)
c.1320A>C (p.Arg440=)
2g.26483580C>ACA346136774OTOFc.1274G>T (p.Arg425Leu)
c.1319G>T (p.Arg440Leu)
 gnomAD v4
2g.26483580C=CA1239830418OTOFc.1274G= (p.Arg425=)
c.1319G= (p.Arg440=)
2g.26483580C>GCA346136775OTOFc.1274G>C (p.Arg425Pro)
c.1319G>C (p.Arg440Pro)
2g.26483580C>TCA346136777OTOFc.1274G>A (p.Arg425Gln)
c.1319G>A (p.Arg440Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.26483581G>ACA345087OTOFc.1273C>T (p.Arg425Ter)
c.1318C>T (p.Arg440Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483581G>CCA346136782OTOFc.1273C>G (p.Arg425Gly)
c.1318C>G (p.Arg440Gly)
 gnomAD v4
2g.26483581G=CA1239830424OTOFc.1273C= (p.Arg425=)
c.1318C= (p.Arg440=)
2g.26483581G>TCA425207100OTOFc.1273C>A (p.Arg425=)
c.1318C>A (p.Arg440=)
2g.26483582G>ACA425207101OTOFc.1272C>T (p.Tyr424=)
c.1317C>T (p.Tyr439=)
2g.26483582G>CCA346136786OTOFc.1272C>G (p.Tyr424Ter)
c.1317C>G (p.Tyr439Ter)
 ClinVar dbSNP
2g.26483582G=CA1239830427OTOFc.1272C= (p.Tyr424=)
c.1317C= (p.Tyr439=)
2g.26483582G>TCA346136787OTOFc.1272C>A (p.Tyr424Ter)
c.1317C>A (p.Tyr439Ter)
2g.26483583T>ACA346136790OTOFc.1271A>T (p.Tyr424Phe)
c.1316A>T (p.Tyr439Phe)
2g.26483583T>CCA346136791OTOFc.1271A>G (p.Tyr424Cys)
c.1316A>G (p.Tyr439Cys)
2g.26483583T>GCA346136793OTOFc.1271A>C (p.Tyr424Ser)
c.1316A>C (p.Tyr439Ser)
2g.26483584A>CCA346136798OTOFc.1270T>G (p.Tyr424Asp)
c.1315T>G (p.Tyr439Asp)
2g.26483584A>GCA346136795OTOFc.1270T>C (p.Tyr424His)
c.1315T>C (p.Tyr439His)
2g.26483584A>TCA346136796OTOFc.1270T>A (p.Tyr424Asn)
c.1315T>A (p.Tyr439Asn)
2g.26483585A=CA1239830429OTOFc.1269T= (p.Ile423=)
c.1314T= (p.Ile438=)
2g.26483585A>CCA346136799OTOFc.1269T>G (p.Ile423Met)
c.1314T>G (p.Ile438Met)
2g.26483585A>GCA425207106OTOFc.1269T>C (p.Ile423=)
c.1314T>C (p.Ile438=)
2g.26483585A>TCA425207107OTOFc.1269T>A (p.Ile423=)
c.1314T>A (p.Ile438=)
 dbSNP gnomAD v4
2g.26483586A>CCA346136804OTOFc.1268T>G (p.Ile423Ser)
c.1313T>G (p.Ile438Ser)
2g.26483586A>GCA346136802OTOFc.1268T>C (p.Ile423Thr)
c.1313T>C (p.Ile438Thr)
2g.26483586A>TCA346136806OTOFc.1268T>A (p.Ile423Asn)
c.1313T>A (p.Ile438Asn)

Number of alleles fetched