Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.26483587T>ACA346136809OTOFc.1267A>T (p.Ile423Phe)
c.1312A>T (p.Ile438Phe)
2g.26483587T>CCA346136814OTOFc.1267A>G (p.Ile423Val)
c.1312A>G (p.Ile438Val)
2g.26483587T>GCA346136811OTOFc.1267A>C (p.Ile423Leu)
c.1312A>C (p.Ile438Leu)
2g.26483590delCA2658239382OTOFc.1267del (p.Ile423PhefsTer10)
c.1312del (p.Ile438PhefsTer10)
 gnomAD v4
2g.26483588T>ACA346136818OTOFc.1266A>T (p.Lys422Asn)
c.1311A>T (p.Lys437Asn)
2g.26483588T>CCA425207173OTOFc.1266A>G (p.Lys422=)
c.1311A>G (p.Lys437=)
2g.26483588T>GCA346136820OTOFc.1266A>C (p.Lys422Asn)
c.1311A>C (p.Lys437Asn)
2g.26483589T>ACA346136824OTOFc.1265A>T (p.Lys422Ile)
c.1310A>T (p.Lys437Ile)
2g.26483589T>CCA346136826OTOFc.1265A>G (p.Lys422Arg)
c.1310A>G (p.Lys437Arg)
2g.26483589T>GCA346136828OTOFc.1265A>C (p.Lys422Thr)
c.1310A>C (p.Lys437Thr)
2g.26483590T>ACA346136831OTOFc.1264A>T (p.Lys422Ter)
c.1309A>T (p.Lys437Ter)
2g.26483590T>CCA346136832OTOFc.1264A>G (p.Lys422Glu)
c.1309A>G (p.Lys437Glu)
2g.26483590T>GCA1564322OTOFc.1264A>C (p.Lys422Gln)
c.1309A>C (p.Lys437Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483590T=CA1239830431OTOFc.1264A= (p.Lys422=)
c.1309A= (p.Lys437=)
2g.26483591C>ACA425207174OTOFc.1263G>T (p.Val421=)
c.1308G>T (p.Val436=)
2g.26483591C>GCA425207175OTOFc.1263G>C (p.Val421=)
c.1308G>C (p.Val436=)
2g.26483591C>TCA425207176OTOFc.1263G>A (p.Val421=)
c.1308G>A (p.Val436=)
2g.26483592A=CA1239830433OTOFc.1262T= (p.Val421=)
c.1307T= (p.Val436=)
2g.26483592A>CCA346136842OTOFc.1262T>G (p.Val421Gly)
c.1307T>G (p.Val436Gly)
2g.26483592A>GCA346136844OTOFc.1262T>C (p.Val421Ala)
c.1307T>C (p.Val436Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26483592A>TCA346136847OTOFc.1262T>A (p.Val421Glu)
c.1307T>A (p.Val436Glu)
2g.26483593C>ACA346136851OTOFc.1261G>T (p.Val421Leu)
c.1306G>T (p.Val436Leu)
2g.26483593C>GCA346136853OTOFc.1261G>C (p.Val421Leu)
c.1306G>C (p.Val436Leu)
2g.26483593C>TCA346136855OTOFc.1261G>A (p.Val421Met)
c.1306G>A (p.Val436Met)
 gnomAD v4
2g.26483594A=CA1239830434OTOFc.1260T= (p.Tyr420=)
c.1305T= (p.Tyr435=)
2g.26483594A>CCA346136858OTOFc.1260T>G (p.Tyr420Ter)
c.1305T>G (p.Tyr435Ter)
2g.26483594A>GCA425207177OTOFc.1260T>C (p.Tyr420=)
c.1305T>C (p.Tyr435=)
 dbSNP gnomAD v2 gnomAD v4
2g.26483594A>TCA346136860OTOFc.1260T>A (p.Tyr420Ter)
c.1305T>A (p.Tyr435Ter)
2g.26483595T>ACA346136863OTOFc.1259A>T (p.Tyr420Phe)
c.1304A>T (p.Tyr435Phe)
 dbSNP
2g.26483595T>CCA346136865OTOFc.1259A>G (p.Tyr420Cys)
c.1304A>G (p.Tyr435Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26483595T>GCA346136867OTOFc.1259A>C (p.Tyr420Ser)
c.1304A>C (p.Tyr435Ser)
2g.26483595T=CA1239830436OTOFc.1259A= (p.Tyr420=)
c.1304A= (p.Tyr435=)
2g.26483596A=CA1239830437OTOFc.1258T= (p.Tyr420=)
c.1303T= (p.Tyr435=)
2g.26483596A>CCA346136870OTOFc.1258T>G (p.Tyr420Asp)
c.1303T>G (p.Tyr435Asp)
2g.26483596A>GCA1564323OTOFc.1258T>C (p.Tyr420His)
c.1303T>C (p.Tyr435His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483596A>TCA346136874OTOFc.1258T>A (p.Tyr420Asn)
c.1303T>A (p.Tyr435Asn)
2g.26483597G>ACA425207178OTOFc.1257C>T (p.Phe419=)
c.1302C>T (p.Phe434=)
2g.26483597G>CCA346136875OTOFc.1257C>G (p.Phe419Leu)
c.1302C>G (p.Phe434Leu)
2g.26483597G>TCA346136876OTOFc.1257C>A (p.Phe419Leu)
c.1302C>A (p.Phe434Leu)
2g.26483598A>CCA346136877OTOFc.1256T>G (p.Phe419Cys)
c.1301T>G (p.Phe434Cys)
2g.26483598A>GCA346136879OTOFc.1256T>C (p.Phe419Ser)
c.1301T>C (p.Phe434Ser)
 gnomAD v4
2g.26483598A>TCA346136882OTOFc.1256T>A (p.Phe419Tyr)
c.1301T>A (p.Phe434Tyr)
2g.26483599A>CCA346136888OTOFc.1255T>G (p.Phe419Val)
c.1300T>G (p.Phe434Val)
2g.26483599A>GCA346136891OTOFc.1255T>C (p.Phe419Leu)
c.1300T>C (p.Phe434Leu)
2g.26483599A>TCA346136887OTOFc.1255T>A (p.Phe419Ile)
c.1300T>A (p.Phe434Ile)
2g.26483600C>ACA425207179OTOFc.1254G>T (p.Arg418=)
c.1299G>T (p.Arg433=)
2g.26483600C>GCA425207180OTOFc.1254G>C (p.Arg418=)
c.1299G>C (p.Arg433=)
2g.26483600C>TCA425207181OTOFc.1254G>A (p.Arg418=)
c.1299G>A (p.Arg433=)
2g.26483601C>ACA346136895OTOFc.1253G>T (p.Arg418Leu)
c.1298G>T (p.Arg433Leu)
 gnomAD v4
2g.26483601C=CA1239830439OTOFc.1253G= (p.Arg418=)
c.1298G= (p.Arg433=)
2g.26483601C>GCA346136897OTOFc.1253G>C (p.Arg418Pro)
c.1298G>C (p.Arg433Pro)
2g.26483601C>TCA1564324OTOFc.1253G>A (p.Arg418Gln)
c.1298G>A (p.Arg433Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483602G>ACA1564325OTOFc.1252C>T (p.Arg418Trp)
c.1297C>T (p.Arg433Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483602G>CCA346136904OTOFc.1252C>G (p.Arg418Gly)
c.1297C>G (p.Arg433Gly)
2g.26483602G=CA1239830441OTOFc.1252C= (p.Arg418=)
c.1297C= (p.Arg433=)
2g.26483602G>TCA425207182OTOFc.1252C>A (p.Arg418=)
c.1297C>A (p.Arg433=)
2g.26483603G>ACA425207185OTOFc.1251C>T (p.Ala417=)
c.1296C>T (p.Ala432=)
 gnomAD v4
2g.26483603G>CCA425207184OTOFc.1251C>G (p.Ala417=)
c.1296C>G (p.Ala432=)
2g.26483603G>TCA425207183OTOFc.1251C>A (p.Ala417=)
c.1296C>A (p.Ala432=)
 dbSNP
2g.26483604G>ACA346136911OTOFc.1250C>T (p.Ala417Val)
c.1295C>T (p.Ala432Val)
2g.26483604G>CCA346136909OTOFc.1250C>G (p.Ala417Gly)
c.1295C>G (p.Ala432Gly)
2g.26483604G>TCA346136907OTOFc.1250C>A (p.Ala417Asp)
c.1295C>A (p.Ala432Asp)
 gnomAD v4
2g.26483605C>ACA1564326OTOFc.1249G>T (p.Ala417Ser)
c.1294G>T (p.Ala432Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483605C=CA1239830443OTOFc.1249G= (p.Ala417=)
c.1294G= (p.Ala432=)
2g.26483605C>GCA346136916OTOFc.1249G>C (p.Ala417Pro)
c.1294G>C (p.Ala432Pro)
2g.26483605C>TCA346136919OTOFc.1249G>A (p.Ala417Thr)
c.1294G>A (p.Ala432Thr)
 dbSNP
2g.26483606C>ACA346136922OTOFc.1248G>T (p.Trp416Cys)
c.1293G>T (p.Trp431Cys)
2g.26483606C>GCA346136924OTOFc.1248G>C (p.Trp416Cys)
c.1293G>C (p.Trp431Cys)
2g.26483606C>TCA346136926OTOFc.1248G>A (p.Trp416Ter)
c.1293G>A (p.Trp431Ter)
 gnomAD v4
2g.26483607C>ACA346136928OTOFc.1247G>T (p.Trp416Leu)
c.1292G>T (p.Trp431Leu)
2g.26483607C=CA1239830444OTOFc.1247G= (p.Trp416=)
c.1292G= (p.Trp431=)
2g.26483607C>GCA346136933OTOFc.1247G>C (p.Trp416Ser)
c.1292G>C (p.Trp431Ser)
2g.26483607C>TCA346136931OTOFc.1247G>A (p.Trp416Ter)
c.1292G>A (p.Trp431Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26483608A=CA1239830446OTOFc.1246T= (p.Trp416=)
c.1291T= (p.Trp431=)
2g.26483608A>CCA346136936OTOFc.1246T>G (p.Trp416Gly)
c.1291T>G (p.Trp431Gly)
2g.26483608A>GCA1564327OTOFc.1246T>C (p.Trp416Arg)
c.1291T>C (p.Trp431Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483608A>TCA346136941OTOFc.1246T>A (p.Trp416Arg)
c.1291T>A (p.Trp431Arg)
2g.26483609C>ACA346136945OTOFc.1245G>T (p.Gln415His)
c.1290G>T (p.Gln430His)
2g.26483609C=CA1239830447OTOFc.1245G= (p.Gln415=)
c.1290G= (p.Gln430=)
2g.26483609C>GCA346136947OTOFc.1245G>C (p.Gln415His)
c.1290G>C (p.Gln430His)
2g.26483609C>TCA425207186OTOFc.1245G>A (p.Gln415=)
c.1290G>A (p.Gln430=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26483610T>ACA346136951OTOFc.1244A>T (p.Gln415Leu)
c.1289A>T (p.Gln430Leu)
2g.26483610T>CCA346136953OTOFc.1244A>G (p.Gln415Arg)
c.1289A>G (p.Gln430Arg)
2g.26483610T>GCA346136955OTOFc.1244A>C (p.Gln415Pro)
c.1289A>C (p.Gln430Pro)
 gnomAD v4
2g.26483611G>ACA346136959OTOFc.1243C>T (p.Gln415Ter)
c.1288C>T (p.Gln430Ter)
2g.26483611G>CCA346136961OTOFc.1243C>G (p.Gln415Glu)
c.1288C>G (p.Gln430Glu)
2g.26483611G>TCA346136963OTOFc.1243C>A (p.Gln415Lys)
c.1288C>A (p.Gln430Lys)
2g.26483612G>ACA425207187OTOFc.1242C>T (p.Arg414=)
c.1287C>T (p.Arg429=)
2g.26483612G>CCA425207189OTOFc.1242C>G (p.Arg414=)
c.1287C>G (p.Arg429=)
 ClinVar
2g.26483612G>TCA425207188OTOFc.1242C>A (p.Arg414=)
c.1287C>A (p.Arg429=)
2g.26483613C>ACA346136972OTOFc.1241G>T (p.Arg414Leu)
c.1286G>T (p.Arg429Leu)
2g.26483613C=CA1239830448OTOFc.1241G= (p.Arg414=)
c.1286G= (p.Arg429=)
2g.26483613C>GCA346136970OTOFc.1241G>C (p.Arg414Pro)
c.1286G>C (p.Arg429Pro)
2g.26483613C>TCA44402414OTOFc.1241G>A (p.Arg414His)
c.1286G>A (p.Arg429His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.26483614G>ACA1564328OTOFc.1240C>T (p.Arg414Cys)
c.1285C>T (p.Arg429Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483614G>CCA346136980OTOFc.1240C>G (p.Arg414Gly)
c.1285C>G (p.Arg429Gly)
2g.26483614G=CA1239830451OTOFc.1240C= (p.Arg414=)
c.1285C= (p.Arg429=)
2g.26483614G>TCA346136978OTOFc.1240C>A (p.Arg414Ser)
c.1285C>A (p.Arg429Ser)
2g.26483615T>ACA346136983OTOFc.1239A>T (p.Glu413Asp)
c.1284A>T (p.Glu428Asp)
2g.26483615T>CCA425207190OTOFc.1239A>G (p.Glu413=)
c.1284A>G (p.Glu428=)
2g.26483615T>GCA346136985OTOFc.1239A>C (p.Glu413Asp)
c.1284A>C (p.Glu428Asp)
2g.26483616T>ACA346136989OTOFc.1238A>T (p.Glu413Val)
c.1283A>T (p.Glu428Val)
2g.26483616T>CCA346136992OTOFc.1238A>G (p.Glu413Gly)
c.1283A>G (p.Glu428Gly)
2g.26483616T>GCA346136994OTOFc.1238A>C (p.Glu413Ala)
c.1283A>C (p.Glu428Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.26483616T=CA1239830453OTOFc.1238A= (p.Glu413=)
c.1283A= (p.Glu428=)
2g.26483617C>ACA346136998OTOFc.1237G>T (p.Glu413Ter)
c.1282G>T (p.Glu428Ter)
2g.26483617C=CA1239830455OTOFc.1237G= (p.Glu413=)
c.1282G= (p.Glu428=)
2g.26483617C>GCA346137001OTOFc.1237G>C (p.Glu413Gln)
c.1282G>C (p.Glu428Gln)
2g.26483617C>TCA1564329OTOFc.1237G>A (p.Glu413Lys)
c.1282G>A (p.Glu428Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26483617_26483618delinsCGCA1239830454OTOFc.1236_1237delinsCG (p.Pro412=)
c.1281_1282delinsCG (p.Pro427=)
2g.26483618G>ACA1564331OTOFc.1236C>T (p.Pro412=)
c.1281C>T (p.Pro427=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483618G>CCA425207191OTOFc.1236C>G (p.Pro412=)
c.1281C>G (p.Pro427=)
2g.26483618G=CA1239830458OTOFc.1236C= (p.Pro412=)
c.1281C= (p.Pro427=)
2g.26483618G>TCA425207192OTOFc.1236C>A (p.Pro412=)
c.1281C>A (p.Pro427=)
2g.26483623dupCA1564330OTOFc.1236dup (p.Glu413ArgfsTer?)
c.1281dup (p.Glu428ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483622_26483623dupCA2749240847OTOFc.1235_1236dup (p.Glu413ProfsTer10)
c.1280_1281dup (p.Glu428ProfsTer10)
2g.26483623delCA345086OTOFc.1236del (p.Glu413AsnfsTer9)
c.1281del (p.Glu428AsnfsTer9)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.26483619G>ACA346137030OTOFc.1235C>T (p.Pro412Leu)
c.1280C>T (p.Pro427Leu)
2g.26483619G>CCA346137027OTOFc.1235C>G (p.Pro412Arg)
c.1280C>G (p.Pro427Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26483619G=CA1239830462OTOFc.1235C= (p.Pro412=)
c.1280C= (p.Pro427=)
2g.26483619G>TCA346137023OTOFc.1235C>A (p.Pro412His)
c.1280C>A (p.Pro427His)
2g.26483620G>ACA346137034OTOFc.1234C>T (p.Pro412Ser)
c.1279C>T (p.Pro427Ser)
2g.26483620G>CCA346137036OTOFc.1234C>G (p.Pro412Ala)
c.1279C>G (p.Pro427Ala)
2g.26483620G>TCA346137039OTOFc.1234C>A (p.Pro412Thr)
c.1279C>A (p.Pro427Thr)
2g.26483621G>ACA44402423OTOFc.1233C>T (p.Pro411=)
c.1278C>T (p.Pro426=)
 dbSNP gnomAD v2 gnomAD v4
2g.26483621G>CCA425207194OTOFc.1233C>G (p.Pro411=)
c.1278C>G (p.Pro426=)
 dbSNP
2g.26483621G=CA1239830464OTOFc.1233C= (p.Pro411=)
c.1278C= (p.Pro426=)
2g.26483621G>TCA425207193OTOFc.1233C>A (p.Pro411=)
c.1278C>A (p.Pro426=)
2g.26483622G>ACA346137042OTOFc.1232C>T (p.Pro411Leu)
c.1277C>T (p.Pro426Leu)
2g.26483622G>CCA346137044OTOFc.1232C>G (p.Pro411Arg)
c.1277C>G (p.Pro426Arg)
2g.26483622G>TCA346137047OTOFc.1232C>A (p.Pro411His)
c.1277C>A (p.Pro426His)
2g.26483622_26483623insCCCCA2749240848OTOFc.1231_1232insGGG (p.Pro411delinsArgAla)
c.1276_1277insGGG (p.Pro426delinsArgAla)
2g.26483623G>ACA1564332OTOFc.1231C>T (p.Pro411Ser)
c.1276C>T (p.Pro426Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483623G>CCA346137053OTOFc.1231C>G (p.Pro411Ala)
c.1276C>G (p.Pro426Ala)
 gnomAD v4
2g.26483623G=CA1239830466OTOFc.1231C= (p.Pro411=)
c.1276C= (p.Pro426=)
2g.26483623G>TCA346137056OTOFc.1231C>A (p.Pro411Thr)
c.1276C>A (p.Pro426Thr)
2g.26483624C>ACA425207195OTOFc.1230G>T (p.Val410=)
c.1275G>T (p.Val425=)
 dbSNP gnomAD v2
2g.26483624C=CA1239830468OTOFc.1230G= (p.Val410=)
c.1275G= (p.Val425=)
2g.26483624C>GCA425207196OTOFc.1230G>C (p.Val410=)
c.1275G>C (p.Val425=)
2g.26483624C>TCA425207197OTOFc.1230G>A (p.Val410=)
c.1275G>A (p.Val425=)
2g.26483625A=CA1239830470OTOFc.1229T= (p.Val410=)
c.1274T= (p.Val425=)
2g.26483625A>CCA346137058OTOFc.1229T>G (p.Val410Gly)
c.1274T>G (p.Val425Gly)
 dbSNP
2g.26483625A>GCA346137060OTOFc.1229T>C (p.Val410Ala)
c.1274T>C (p.Val425Ala)
2g.26483625A>TCA346137062OTOFc.1229T>A (p.Val410Glu)
c.1274T>A (p.Val425Glu)
2g.26483626C>ACA346137070OTOFc.1228G>T (p.Val410Leu)
c.1273G>T (p.Val425Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.26483626C=CA1239830473OTOFc.1228G= (p.Val410=)
c.1273G= (p.Val425=)
2g.26483626C>GCA1564333OTOFc.1228G>C (p.Val410Leu)
c.1273G>C (p.Val425Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483626C>TCA346137067OTOFc.1228G>A (p.Val410Met)
c.1273G>A (p.Val425Met)
 gnomAD v4
2g.26483627C>ACA425207198OTOFc.1227G>T (p.Gly409=)
c.1272G>T (p.Gly424=)
2g.26483627C=CA1239830476OTOFc.1227G= (p.Gly409=)
c.1272G= (p.Gly424=)
2g.26483627C>GCA10615100OTOFc.1227G>C (p.Gly409=)
c.1272G>C (p.Gly424=)
 ClinVar dbSNP
2g.26483627C>TCA425207199OTOFc.1227G>A (p.Gly409=)
c.1272G>A (p.Gly424=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26483628C>ACA346137077OTOFc.1226G>T (p.Gly409Val)
c.1271G>T (p.Gly424Val)
2g.26483628C>GCA346137079OTOFc.1226G>C (p.Gly409Ala)
c.1271G>C (p.Gly424Ala)
2g.26483628C>TCA346137082OTOFc.1226G>A (p.Gly409Glu)
c.1271G>A (p.Gly424Glu)
2g.26483629C>ACA346137085OTOFc.1225G>T (p.Gly409Trp)
c.1270G>T (p.Gly424Trp)
2g.26483629C>GCA346137087OTOFc.1225G>C (p.Gly409Arg)
c.1270G>C (p.Gly424Arg)
2g.26483629C>TCA346137090OTOFc.1225G>A (p.Gly409Arg)
c.1270G>A (p.Gly424Arg)
 COSMIC
2g.26483630C>ACA346137094OTOFc.1224G>T (p.Glu408Asp)
c.1269G>T (p.Glu423Asp)
2g.26483630C>GCA346137096OTOFc.1224G>C (p.Glu408Asp)
c.1269G>C (p.Glu423Asp)
 gnomAD v4
2g.26483630C>TCA425207200OTOFc.1224G>A (p.Glu408=)
c.1269G>A (p.Glu423=)
 gnomAD v4
2g.26483631T>ACA346137099OTOFc.1223A>T (p.Glu408Val)
c.1268A>T (p.Glu423Val)
 dbSNP gnomAD v3 gnomAD v4
2g.26483631T>CCA346137101OTOFc.1223A>G (p.Glu408Gly)
c.1268A>G (p.Glu423Gly)
2g.26483631T>GCA346137104OTOFc.1223A>C (p.Glu408Ala)
c.1268A>C (p.Glu423Ala)
2g.26483631T=CA1239830478OTOFc.1223A= (p.Glu408=)
c.1268A= (p.Glu423=)

Number of alleles fetched