Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26483529T>A | CA346136546 | OTOF | c.1325A>T (p.Lys442Met) c.1370A>T (p.Lys457Met) | |
2 | g.26483529T>C | CA346136548 | OTOF | c.1325A>G (p.Lys442Arg) c.1370A>G (p.Lys457Arg) | |
2 | g.26483529T>G | CA1564313 | OTOF | c.1325A>C (p.Lys442Thr) c.1370A>C (p.Lys457Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483529T= | CA1239830380 | OTOF | c.1325A= (p.Lys442=) c.1370A= (p.Lys457=) | |
2 | g.26483530T>A | CA346136563 | OTOF | c.1324A>T (p.Lys442Ter) c.1369A>T (p.Lys457Ter) | |
2 | g.26483530T>C | CA346136565 | OTOF | c.1324A>G (p.Lys442Glu) c.1369A>G (p.Lys457Glu) | |
2 | g.26483530T>G | CA346136561 | OTOF | c.1324A>C (p.Lys442Gln) c.1369A>C (p.Lys457Gln) | |
2 | g.26483531C>A | CA346136570 | OTOF | c.1323G>T (p.Lys441Asn) c.1368G>T (p.Lys456Asn) | |
2 | g.26483531C>G | CA346136568 | OTOF | c.1323G>C (p.Lys441Asn) c.1368G>C (p.Lys456Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.26483531C>T | CA425207028 | OTOF | c.1323G>A (p.Lys441=) c.1368G>A (p.Lys456=) | ClinVar gnomAD v4 |
2 | g.26483532T>A | CA346136582 | OTOF | c.1322A>T (p.Lys441Met) c.1367A>T (p.Lys456Met) | |
2 | g.26483532T>C | CA346136574 | OTOF | c.1322A>G (p.Lys441Arg) c.1367A>G (p.Lys456Arg) | |
2 | g.26483532T>G | CA346136578 | OTOF | c.1322A>C (p.Lys441Thr) c.1367A>C (p.Lys456Thr) | |
2 | g.26483533T>A | CA346136584 | OTOF | c.1321A>T (p.Lys441Ter) c.1366A>T (p.Lys456Ter) | |
2 | g.26483533T>C | CA346136586 | OTOF | c.1321A>G (p.Lys441Glu) c.1366A>G (p.Lys456Glu) | |
2 | g.26483533T>G | CA346136588 | OTOF | c.1321A>C (p.Lys441Gln) c.1366A>C (p.Lys456Gln) | |
2 | g.26483534T>A | CA425207033 | OTOF | c.1320A>T (p.Val440=) c.1365A>T (p.Val455=) | |
2 | g.26483534T>C | CA425207031 | OTOF | c.1320A>G (p.Val440=) c.1365A>G (p.Val455=) | |
2 | g.26483534T>G | CA425207032 | OTOF | c.1320A>C (p.Val440=) c.1365A>C (p.Val455=) | |
2 | g.26483535A>C | CA346136589 | OTOF | c.1319T>G (p.Val440Gly) c.1364T>G (p.Val455Gly) | |
2 | g.26483535A>G | CA346136590 | OTOF | c.1319T>C (p.Val440Ala) c.1364T>C (p.Val455Ala) | |
2 | g.26483535A>T | CA346136593 | OTOF | c.1319T>A (p.Val440Glu) c.1364T>A (p.Val455Glu) | |
2 | g.26483536C>A | CA346136596 | OTOF | c.1318G>T (p.Val440Leu) c.1363G>T (p.Val455Leu) | |
2 | g.26483536C>G | CA346136598 | OTOF | c.1318G>C (p.Val440Leu) c.1363G>C (p.Val455Leu) | |
2 | g.26483536C>T | CA346136599 | OTOF | c.1318G>A (p.Val440Ile) c.1363G>A (p.Val455Ile) | |
2 | g.26483537A= | CA1239830382 | OTOF | c.1317T= (p.Asn439=) c.1362T= (p.Asn454=) | |
2 | g.26483537A>C | CA346136608 | OTOF | c.1317T>G (p.Asn439Lys) c.1362T>G (p.Asn454Lys) | |
2 | g.26483537A>G | CA177563 | OTOF | c.1317T>C (p.Asn439=) c.1362T>C (p.Asn454=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483537A>T | CA346136604 | OTOF | c.1317T>A (p.Asn439Lys) c.1362T>A (p.Asn454Lys) | |
2 | g.26483538T>A | CA346136610 | OTOF | c.1316A>T (p.Asn439Ile) c.1361A>T (p.Asn454Ile) | |
2 | g.26483538T>C | CA346136612 | OTOF | c.1316A>G (p.Asn439Ser) c.1361A>G (p.Asn454Ser) | gnomAD v4 |
2 | g.26483538T>G | CA346136615 | OTOF | c.1316A>C (p.Asn439Thr) c.1361A>C (p.Asn454Thr) | |
2 | g.26483539T>A | CA346136617 | OTOF | c.1315A>T (p.Asn439Tyr) c.1360A>T (p.Asn454Tyr) | |
2 | g.26483539T>C | CA346136619 | OTOF | c.1315A>G (p.Asn439Asp) c.1360A>G (p.Asn454Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483539T>G | CA346136621 | OTOF | c.1315A>C (p.Asn439His) c.1360A>C (p.Asn454His) | gnomAD v4 |
2 | g.26483539T= | CA1239830386 | OTOF | c.1315A= (p.Asn439=) c.1360A= (p.Asn454=) | |
2 | g.26483540G>A | CA425207040 | OTOF | c.1314C>T (p.Ala438=) c.1359C>T (p.Ala453=) | |
2 | g.26483540G>C | CA425207042 | OTOF | c.1314C>G (p.Ala438=) c.1359C>G (p.Ala453=) | |
2 | g.26483540G>T | CA425207041 | OTOF | c.1314C>A (p.Ala438=) c.1359C>A (p.Ala453=) | |
2 | g.26483541G>A | CA1564314 | OTOF | c.1313C>T (p.Ala438Val) c.1358C>T (p.Ala453Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483541G>C | CA346136627 | OTOF | c.1313C>G (p.Ala438Gly) c.1358C>G (p.Ala453Gly) | |
2 | g.26483541G= | CA1239830387 | OTOF | c.1313C= (p.Ala438=) c.1358C= (p.Ala453=) | |
2 | g.26483541G>T | CA346136630 | OTOF | c.1313C>A (p.Ala438Asp) c.1358C>A (p.Ala453Asp) | |
2 | g.26483542C>A | CA346136633 | OTOF | c.1312G>T (p.Ala438Ser) c.1357G>T (p.Ala453Ser) | |
2 | g.26483542C>G | CA346136636 | OTOF | c.1312G>C (p.Ala438Pro) c.1357G>C (p.Ala453Pro) | |
2 | g.26483542C>T | CA346136637 | OTOF | c.1312G>A (p.Ala438Thr) c.1357G>A (p.Ala453Thr) | |
2 | g.26483543C>A | CA346136642 | OTOF | c.1311G>T (p.Met437Ile) c.1356G>T (p.Met452Ile) | |
2 | g.26483543C= | CA1239830389 | OTOF | c.1311G= (p.Met437=) c.1356G= (p.Met452=) | |
2 | g.26483543C>G | CA346136644 | OTOF | c.1311G>C (p.Met437Ile) c.1356G>C (p.Met452Ile) | |
2 | g.26483543C>T | CA346136639 | OTOF | c.1311G>A (p.Met437Ile) c.1356G>A (p.Met452Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483544A= | CA1239830391 | OTOF | c.1310T= (p.Met437=) c.1355T= (p.Met452=) | |
2 | g.26483544A>C | CA346136647 | OTOF | c.1310T>G (p.Met437Arg) c.1355T>G (p.Met452Arg) | |
2 | g.26483544A>G | CA346136649 | OTOF | c.1310T>C (p.Met437Thr) c.1355T>C (p.Met452Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483544A>T | CA346136650 | OTOF | c.1310T>A (p.Met437Lys) c.1355T>A (p.Met452Lys) | |
2 | g.26483545T>A | CA346136651 | OTOF | c.1309A>T (p.Met437Leu) c.1354A>T (p.Met452Leu) | |
2 | g.26483545T>C | CA346136652 | OTOF | c.1309A>G (p.Met437Val) c.1354A>G (p.Met452Val) | gnomAD v4 |
2 | g.26483545T>G | CA346136653 | OTOF | c.1309A>C (p.Met437Leu) c.1354A>C (p.Met452Leu) | |
2 | g.26483546G>A | CA425207048 | OTOF | c.1308C>T (p.Leu436=) c.1353C>T (p.Leu451=) | |
2 | g.26483546G>C | CA425207049 | OTOF | c.1308C>G (p.Leu436=) c.1353C>G (p.Leu451=) | |
2 | g.26483546G= | CA1239830392 | OTOF | c.1308C= (p.Leu436=) c.1353C= (p.Leu451=) | |
2 | g.26483546G>T | CA425207050 | OTOF | c.1308C>A (p.Leu436=) c.1353C>A (p.Leu451=) | ClinVar dbSNP |
2 | g.26483547A>C | CA346136654 | OTOF | c.1307T>G (p.Leu436Arg) c.1352T>G (p.Leu451Arg) | |
2 | g.26483547A>G | CA346136655 | OTOF | c.1307T>C (p.Leu436Pro) c.1352T>C (p.Leu451Pro) | |
2 | g.26483547A>T | CA346136656 | OTOF | c.1307T>A (p.Leu436His) c.1352T>A (p.Leu451His) | |
2 | g.26483548G>A | CA1564315 | OTOF | c.1306C>T (p.Leu436Phe) c.1351C>T (p.Leu451Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483548G>C | CA346136657 | OTOF | c.1306C>G (p.Leu436Val) c.1351C>G (p.Leu451Val) | |
2 | g.26483548G= | CA1239830394 | OTOF | c.1306C= (p.Leu436=) c.1351C= (p.Leu451=) | |
2 | g.26483548G>T | CA346136658 | OTOF | c.1306C>A (p.Leu436Ile) c.1351C>A (p.Leu451Ile) | |
2 | g.26483549G>A | CA1564316 | OTOF | c.1305C>T (p.Ser435=) c.1350C>T (p.Ser450=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.26483549G>C | CA346136660 | OTOF | c.1305C>G (p.Ser435Arg) c.1350C>G (p.Ser450Arg) | |
2 | g.26483549G= | CA1239830396 | OTOF | c.1305C= (p.Ser435=) c.1350C= (p.Ser450=) | |
2 | g.26483549G>T | CA346136659 | OTOF | c.1305C>A (p.Ser435Arg) c.1350C>A (p.Ser450Arg) | |
2 | g.26483550C>A | CA346136661 | OTOF | c.1304G>T (p.Ser435Ile) c.1349G>T (p.Ser450Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483550C= | CA1239830398 | OTOF | c.1304G= (p.Ser435=) c.1349G= (p.Ser450=) | |
2 | g.26483550C>G | CA346136662 | OTOF | c.1304G>C (p.Ser435Thr) c.1349G>C (p.Ser450Thr) | |
2 | g.26483550C>T | CA346136663 | OTOF | c.1304G>A (p.Ser435Asn) c.1349G>A (p.Ser450Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26483551T>A | CA346136664 | OTOF | c.1303A>T (p.Ser435Cys) c.1348A>T (p.Ser450Cys) | |
2 | g.26483551T>C | CA1564317 | OTOF | c.1303A>G (p.Ser435Gly) c.1348A>G (p.Ser450Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483551T>G | CA346136665 | OTOF | c.1303A>C (p.Ser435Arg) c.1348A>C (p.Ser450Arg) | |
2 | g.26483551T= | CA1239830400 | OTOF | c.1303A= (p.Ser435=) c.1348A= (p.Ser450=) | |
2 | g.26483552_26483560del | CA2594512182 | OTOF | c.1295_1303del (p.Met432_Thr434del) c.1340_1348del (p.Met447_Thr449del) | gnomAD v3 gnomAD v4 |
2 | g.26483552T>A | CA425207053 | OTOF | c.1302A>T (p.Thr434=) c.1347A>T (p.Thr449=) | |
2 | g.26483552T>C | CA425207054 | OTOF | c.1302A>G (p.Thr434=) c.1347A>G (p.Thr449=) | |
2 | g.26483552T>G | CA425207055 | OTOF | c.1302A>C (p.Thr434=) c.1347A>C (p.Thr449=) | |
2 | g.26483553G>A | CA346136668 | OTOF | c.1301C>T (p.Thr434Ile) c.1346C>T (p.Thr449Ile) | |
2 | g.26483553G>C | CA346136666 | OTOF | c.1301C>G (p.Thr434Arg) c.1346C>G (p.Thr449Arg) | |
2 | g.26483553G>T | CA346136667 | OTOF | c.1301C>A (p.Thr434Lys) c.1346C>A (p.Thr449Lys) | |
2 | g.26483554T>A | CA346136669 | OTOF | c.1300A>T (p.Thr434Ser) c.1345A>T (p.Thr449Ser) | |
2 | g.26483554T>C | CA44402369 | OTOF | c.1300A>G (p.Thr434Ala) c.1345A>G (p.Thr449Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483554T>G | CA346136670 | OTOF | c.1300A>C (p.Thr434Pro) c.1345A>C (p.Thr449Pro) | |
2 | g.26483554T= | CA1239830401 | OTOF | c.1300A= (p.Thr434=) c.1345A= (p.Thr449=) | |
2 | g.26483555G>A | CA425207056 | OTOF | c.1299C>T (p.Asn433=) c.1344C>T (p.Asn448=) | |
2 | g.26483555G>C | CA346136671 | OTOF | c.1299C>G (p.Asn433Lys) c.1344C>G (p.Asn448Lys) | |
2 | g.26483555G= | CA1239830402 | OTOF | c.1299C= (p.Asn433=) c.1344C= (p.Asn448=) | |
2 | g.26483555G>T | CA346136672 | OTOF | c.1299C>A (p.Asn433Lys) c.1344C>A (p.Asn448Lys) | |
2 | g.26483556T>A | CA44402375 | OTOF | c.1298A>T (p.Asn433Ile) c.1343A>T (p.Asn448Ile) | dbSNP gnomAD v4 |
2 | g.26483556T>C | CA346136674 | OTOF | c.1298A>G (p.Asn433Ser) c.1343A>G (p.Asn448Ser) | |
2 | g.26483556T>G | CA346136673 | OTOF | c.1298A>C (p.Asn433Thr) c.1343A>C (p.Asn448Thr) | |
2 | g.26483556T= | CA1239830405 | OTOF | c.1298A= (p.Asn433=) c.1343A= (p.Asn448=) | |
2 | g.26483557_26483560dup | CA767290958 | OTOF | c.1295_1298dup (p.Thr434GlufsTer15) c.1340_1343dup (p.Thr449GlufsTer15) | dbSNP gnomAD v4 |
2 | g.26483557T>A | CA346136675 | OTOF | c.1297A>T (p.Asn433Tyr) c.1342A>T (p.Asn448Tyr) | |
2 | g.26483557T>C | CA346136676 | OTOF | c.1297A>G (p.Asn433Asp) c.1342A>G (p.Asn448Asp) | |
2 | g.26483557T>G | CA346136677 | OTOF | c.1297A>C (p.Asn433His) c.1342A>C (p.Asn448His) | |
2 | g.26483558C>A | CA346136678 | OTOF | c.1296G>T (p.Met432Ile) c.1341G>T (p.Met447Ile) | |
2 | g.26483558C>G | CA346136679 | OTOF | c.1296G>C (p.Met432Ile) c.1341G>C (p.Met447Ile) | |
2 | g.26483558C>T | CA346136680 | OTOF | c.1296G>A (p.Met432Ile) c.1341G>A (p.Met447Ile) | |
2 | g.26483559A= | CA1239830407 | OTOF | c.1295T= (p.Met432=) c.1340T= (p.Met447=) | |
2 | g.26483559A>C | CA346136682 | OTOF | c.1295T>G (p.Met432Arg) c.1340T>G (p.Met447Arg) | COSMIC |
2 | g.26483559A>G | CA44402391 | OTOF | c.1295T>C (p.Met432Thr) c.1340T>C (p.Met447Thr) | dbSNP gnomAD v4 |
2 | g.26483559A>T | CA346136681 | OTOF | c.1295T>A (p.Met432Lys) c.1340T>A (p.Met447Lys) | |
2 | g.26483560T>A | CA346136683 | OTOF | c.1294A>T (p.Met432Leu) c.1339A>T (p.Met447Leu) | |
2 | g.26483560T>C | CA346136684 | OTOF | c.1294A>G (p.Met432Val) c.1339A>G (p.Met447Val) | gnomAD v4 |
2 | g.26483560T>G | CA346136685 | OTOF | c.1294A>C (p.Met432Leu) c.1339A>C (p.Met447Leu) | |
2 | g.26483561A>C | CA425207065 | OTOF | c.1293T>G (p.Arg431=) c.1338T>G (p.Arg446=) | |
2 | g.26483561A>G | CA425207064 | OTOF | c.1293T>C (p.Arg431=) c.1338T>C (p.Arg446=) | |
2 | g.26483561A>T | CA425207063 | OTOF | c.1293T>A (p.Arg431=) c.1338T>A (p.Arg446=) | |
2 | g.26483562C>A | CA346136686 | OTOF | c.1292G>T (p.Arg431Leu) c.1337G>T (p.Arg446Leu) | gnomAD v4 |
2 | g.26483562C= | CA1239830409 | OTOF | c.1292G= (p.Arg431=) c.1337G= (p.Arg446=) | |
2 | g.26483562C>G | CA346136688 | OTOF | c.1292G>C (p.Arg431Pro) c.1337G>C (p.Arg446Pro) | |
2 | g.26483562C>T | CA346136690 | OTOF | c.1292G>A (p.Arg431His) c.1337G>A (p.Arg446His) | dbSNP gnomAD v4 |
2 | g.26483563G>A | CA1564318 | OTOF | c.1291C>T (p.Arg431Cys) c.1336C>T (p.Arg446Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.26483563G>C | CA346136693 | OTOF | c.1291C>G (p.Arg431Gly) c.1336C>G (p.Arg446Gly) | |
2 | g.26483563G= | CA1239830412 | OTOF | c.1291C= (p.Arg431=) c.1336C= (p.Arg446=) | |
2 | g.26483563G>T | CA346136696 | OTOF | c.1291C>A (p.Arg431Ser) c.1336C>A (p.Arg446Ser) | |
2 | g.26483564G>A | CA425207068 | OTOF | c.1290C>T (p.Pro430=) c.1335C>T (p.Pro445=) | gnomAD v4 |
2 | g.26483564G>C | CA425207069 | OTOF | c.1290C>G (p.Pro430=) c.1335C>G (p.Pro445=) | |
2 | g.26483564G>T | CA425207070 | OTOF | c.1290C>A (p.Pro430=) c.1335C>A (p.Pro445=) | |
2 | g.26483565G>A | CA346136701 | OTOF | c.1289C>T (p.Pro430Leu) c.1334C>T (p.Pro445Leu) | |
2 | g.26483565G>C | CA346136704 | OTOF | c.1289C>G (p.Pro430Arg) c.1334C>G (p.Pro445Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26483565G= | CA1239830413 | OTOF | c.1289C= (p.Pro430=) c.1334C= (p.Pro445=) | |
2 | g.26483565G>T | CA346136707 | OTOF | c.1289C>A (p.Pro430His) c.1334C>A (p.Pro445His) | |
2 | g.26483566G>A | CA346136710 | OTOF | c.1288C>T (p.Pro430Ser) c.1333C>T (p.Pro445Ser) | |
2 | g.26483566G>C | CA346136713 | OTOF | c.1288C>G (p.Pro430Ala) c.1333C>G (p.Pro445Ala) | |
2 | g.26483566G>T | CA346136716 | OTOF | c.1288C>A (p.Pro430Thr) c.1333C>A (p.Pro445Thr) | |
2 | g.26483567C>A | CA425207072 | OTOF | c.1287G>T (p.Leu429=) c.1332G>T (p.Leu444=) | |
2 | g.26483567C>G | CA425207075 | OTOF | c.1287G>C (p.Leu429=) c.1332G>C (p.Leu444=) | |
2 | g.26483567C>T | CA425207073 | OTOF | c.1287G>A (p.Leu429=) c.1332G>A (p.Leu444=) | |
2 | g.26483568A>C | CA346136719 | OTOF | c.1286T>G (p.Leu429Arg) c.1331T>G (p.Leu444Arg) | |
2 | g.26483568A>G | CA346136721 | OTOF | c.1286T>C (p.Leu429Pro) c.1331T>C (p.Leu444Pro) | |
2 | g.26483568A>T | CA346136723 | OTOF | c.1286T>A (p.Leu429Gln) c.1331T>A (p.Leu444Gln) | |
2 | g.26483569G>A | CA1564319 | OTOF | c.1285C>T (p.Leu429=) c.1330C>T (p.Leu444=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483569G>C | CA346136726 | OTOF | c.1285C>G (p.Leu429Val) c.1330C>G (p.Leu444Val) | |
2 | g.26483569G= | CA1239830414 | OTOF | c.1285C= (p.Leu429=) c.1330C= (p.Leu444=) | |
2 | g.26483569G>T | CA346136728 | OTOF | c.1285C>A (p.Leu429Met) c.1330C>A (p.Leu444Met) | |
2 | g.26483570C>A | CA425207078 | OTOF | c.1284G>T (p.Gly428=) c.1329G>T (p.Gly443=) | |
2 | g.26483570C= | CA1239830415 | OTOF | c.1284G= (p.Gly428=) c.1329G= (p.Gly443=) | |
2 | g.26483570C>G | CA1564320 | OTOF | c.1284G>C (p.Gly428=) c.1329G>C (p.Gly443=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483570C>T | CA425207079 | OTOF | c.1284G>A (p.Gly428=) c.1329G>A (p.Gly443=) | |
2 | g.26483571C>A | CA346136731 | OTOF | c.1283G>T (p.Gly428Val) c.1328G>T (p.Gly443Val) | |
2 | g.26483571C= | CA1239830416 | OTOF | c.1283G= (p.Gly428=) c.1328G= (p.Gly443=) | |
2 | g.26483571C>G | CA1564321 | OTOF | c.1283G>C (p.Gly428Ala) c.1328G>C (p.Gly443Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483571C>T | CA346136733 | OTOF | c.1283G>A (p.Gly428Glu) c.1328G>A (p.Gly443Glu) | |
2 | g.26483572C>A | CA346136738 | OTOF | c.1282G>T (p.Gly428Trp) c.1327G>T (p.Gly443Trp) | |
2 | g.26483572C>G | CA346136741 | OTOF | c.1282G>C (p.Gly428Arg) c.1327G>C (p.Gly443Arg) | |
2 | g.26483572C>T | CA346136743 | OTOF | c.1282G>A (p.Gly428Arg) c.1327G>A (p.Gly443Arg) | |
2 | g.26483573C>A | CA346136745 | OTOF | c.1281G>T (p.Glu427Asp) c.1326G>T (p.Glu442Asp) | |
2 | g.26483573C>G | CA346136747 | OTOF | c.1281G>C (p.Glu427Asp) c.1326G>C (p.Glu442Asp) | |
2 | g.26483573C>T | CA425207082 | OTOF | c.1281G>A (p.Glu427=) c.1326G>A (p.Glu442=) | |
2 | g.26483574T>A | CA346136755 | OTOF | c.1280A>T (p.Glu427Val) c.1325A>T (p.Glu442Val) | COSMIC |
2 | g.26483574T>C | CA346136753 | OTOF | c.1280A>G (p.Glu427Gly) c.1325A>G (p.Glu442Gly) | |
2 | g.26483574T>G | CA346136751 | OTOF | c.1280A>C (p.Glu427Ala) c.1325A>C (p.Glu442Ala) | |
2 | g.26483575C>A | CA346136757 | OTOF | c.1279G>T (p.Glu427Ter) c.1324G>T (p.Glu442Ter) | |
2 | g.26483575C>G | CA346136759 | OTOF | c.1279G>C (p.Glu427Gln) c.1324G>C (p.Glu442Gln) | gnomAD v4 |
2 | g.26483575C>T | CA346136760 | OTOF | c.1279G>A (p.Glu427Lys) c.1324G>A (p.Glu442Lys) | |
2 | g.26483576T>A | CA425207089 | OTOF | c.1278A>T (p.Ala426=) c.1323A>T (p.Ala441=) | |
2 | g.26483576T>C | CA425207091 | OTOF | c.1278A>G (p.Ala426=) c.1323A>G (p.Ala441=) | |
2 | g.26483576T>G | CA425207092 | OTOF | c.1278A>C (p.Ala426=) c.1323A>C (p.Ala441=) | |
2 | g.26483577G>A | CA346136761 | OTOF | c.1277C>T (p.Ala426Val) c.1322C>T (p.Ala441Val) | |
2 | g.26483577G>C | CA346136762 | OTOF | c.1277C>G (p.Ala426Gly) c.1322C>G (p.Ala441Gly) | |
2 | g.26483577G>T | CA346136764 | OTOF | c.1277C>A (p.Ala426Glu) c.1322C>A (p.Ala441Glu) | |
2 | g.26483578C>A | CA346136767 | OTOF | c.1276G>T (p.Ala426Ser) c.1321G>T (p.Ala441Ser) | |
2 | g.26483578C= | CA1239830417 | OTOF | c.1276G= (p.Ala426=) c.1321G= (p.Ala441=) | |
2 | g.26483578C>G | CA346136770 | OTOF | c.1276G>C (p.Ala426Pro) c.1321G>C (p.Ala441Pro) | dbSNP gnomAD v4 |
2 | g.26483578C>T | CA346136768 | OTOF | c.1276G>A (p.Ala426Thr) c.1321G>A (p.Ala441Thr) | |
2 | g.26483579T>A | CA425207097 | OTOF | c.1275A>T (p.Arg425=) c.1320A>T (p.Arg440=) | |
2 | g.26483579T>C | CA425207098 | OTOF | c.1275A>G (p.Arg425=) c.1320A>G (p.Arg440=) | |
2 | g.26483579T>G | CA425207099 | OTOF | c.1275A>C (p.Arg425=) c.1320A>C (p.Arg440=) | |
2 | g.26483580C>A | CA346136774 | OTOF | c.1274G>T (p.Arg425Leu) c.1319G>T (p.Arg440Leu) | gnomAD v4 |
2 | g.26483580C= | CA1239830418 | OTOF | c.1274G= (p.Arg425=) c.1319G= (p.Arg440=) | |
2 | g.26483580C>G | CA346136775 | OTOF | c.1274G>C (p.Arg425Pro) c.1319G>C (p.Arg440Pro) | |
2 | g.26483580C>T | CA346136777 | OTOF | c.1274G>A (p.Arg425Gln) c.1319G>A (p.Arg440Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26483581G>A | CA345087 | OTOF | c.1273C>T (p.Arg425Ter) c.1318C>T (p.Arg440Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483581G>C | CA346136782 | OTOF | c.1273C>G (p.Arg425Gly) c.1318C>G (p.Arg440Gly) | gnomAD v4 |
2 | g.26483581G= | CA1239830424 | OTOF | c.1273C= (p.Arg425=) c.1318C= (p.Arg440=) | |
2 | g.26483581G>T | CA425207100 | OTOF | c.1273C>A (p.Arg425=) c.1318C>A (p.Arg440=) | |
2 | g.26483582G>A | CA425207101 | OTOF | c.1272C>T (p.Tyr424=) c.1317C>T (p.Tyr439=) | |
2 | g.26483582G>C | CA346136786 | OTOF | c.1272C>G (p.Tyr424Ter) c.1317C>G (p.Tyr439Ter) | ClinVar dbSNP |
2 | g.26483582G= | CA1239830427 | OTOF | c.1272C= (p.Tyr424=) c.1317C= (p.Tyr439=) | |
2 | g.26483582G>T | CA346136787 | OTOF | c.1272C>A (p.Tyr424Ter) c.1317C>A (p.Tyr439Ter) | |
2 | g.26483583T>A | CA346136790 | OTOF | c.1271A>T (p.Tyr424Phe) c.1316A>T (p.Tyr439Phe) | |
2 | g.26483583T>C | CA346136791 | OTOF | c.1271A>G (p.Tyr424Cys) c.1316A>G (p.Tyr439Cys) | |
2 | g.26483583T>G | CA346136793 | OTOF | c.1271A>C (p.Tyr424Ser) c.1316A>C (p.Tyr439Ser) | |
2 | g.26483584A>C | CA346136798 | OTOF | c.1270T>G (p.Tyr424Asp) c.1315T>G (p.Tyr439Asp) | |
2 | g.26483584A>G | CA346136795 | OTOF | c.1270T>C (p.Tyr424His) c.1315T>C (p.Tyr439His) | |
2 | g.26483584A>T | CA346136796 | OTOF | c.1270T>A (p.Tyr424Asn) c.1315T>A (p.Tyr439Asn) | |
2 | g.26483585A= | CA1239830429 | OTOF | c.1269T= (p.Ile423=) c.1314T= (p.Ile438=) | |
2 | g.26483585A>C | CA346136799 | OTOF | c.1269T>G (p.Ile423Met) c.1314T>G (p.Ile438Met) | |
2 | g.26483585A>G | CA425207106 | OTOF | c.1269T>C (p.Ile423=) c.1314T>C (p.Ile438=) | |
2 | g.26483585A>T | CA425207107 | OTOF | c.1269T>A (p.Ile423=) c.1314T>A (p.Ile438=) | dbSNP gnomAD v4 |
2 | g.26483586A>C | CA346136804 | OTOF | c.1268T>G (p.Ile423Ser) c.1313T>G (p.Ile438Ser) | |
2 | g.26483586A>G | CA346136802 | OTOF | c.1268T>C (p.Ile423Thr) c.1313T>C (p.Ile438Thr) | |
2 | g.26483586A>T | CA346136806 | OTOF | c.1268T>A (p.Ile423Asn) c.1313T>A (p.Ile438Asn) | |
2 | g.26483587T>A | CA346136809 | OTOF | c.1267A>T (p.Ile423Phe) c.1312A>T (p.Ile438Phe) | |
2 | g.26483587T>C | CA346136814 | OTOF | c.1267A>G (p.Ile423Val) c.1312A>G (p.Ile438Val) | |
2 | g.26483587T>G | CA346136811 | OTOF | c.1267A>C (p.Ile423Leu) c.1312A>C (p.Ile438Leu) | |
2 | g.26483590del | CA2658239382 | OTOF | c.1267del (p.Ile423PhefsTer10) c.1312del (p.Ile438PhefsTer10) | gnomAD v4 |
2 | g.26483588T>A | CA346136818 | OTOF | c.1266A>T (p.Lys422Asn) c.1311A>T (p.Lys437Asn) | |
2 | g.26483588T>C | CA425207173 | OTOF | c.1266A>G (p.Lys422=) c.1311A>G (p.Lys437=) | |
2 | g.26483588T>G | CA346136820 | OTOF | c.1266A>C (p.Lys422Asn) c.1311A>C (p.Lys437Asn) | |
2 | g.26483589T>A | CA346136824 | OTOF | c.1265A>T (p.Lys422Ile) c.1310A>T (p.Lys437Ile) | |
2 | g.26483589T>C | CA346136826 | OTOF | c.1265A>G (p.Lys422Arg) c.1310A>G (p.Lys437Arg) | |
2 | g.26483589T>G | CA346136828 | OTOF | c.1265A>C (p.Lys422Thr) c.1310A>C (p.Lys437Thr) | |
2 | g.26483590T>A | CA346136831 | OTOF | c.1264A>T (p.Lys422Ter) c.1309A>T (p.Lys437Ter) | |
2 | g.26483590T>C | CA346136832 | OTOF | c.1264A>G (p.Lys422Glu) c.1309A>G (p.Lys437Glu) | |
2 | g.26483590T>G | CA1564322 | OTOF | c.1264A>C (p.Lys422Gln) c.1309A>C (p.Lys437Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483590T= | CA1239830431 | OTOF | c.1264A= (p.Lys422=) c.1309A= (p.Lys437=) | |
2 | g.26483591C>A | CA425207174 | OTOF | c.1263G>T (p.Val421=) c.1308G>T (p.Val436=) | |
2 | g.26483591C>G | CA425207175 | OTOF | c.1263G>C (p.Val421=) c.1308G>C (p.Val436=) | |
2 | g.26483591C>T | CA425207176 | OTOF | c.1263G>A (p.Val421=) c.1308G>A (p.Val436=) | |
2 | g.26483592A= | CA1239830433 | OTOF | c.1262T= (p.Val421=) c.1307T= (p.Val436=) | |
2 | g.26483592A>C | CA346136842 | OTOF | c.1262T>G (p.Val421Gly) c.1307T>G (p.Val436Gly) | |
2 | g.26483592A>G | CA346136844 | OTOF | c.1262T>C (p.Val421Ala) c.1307T>C (p.Val436Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483592A>T | CA346136847 | OTOF | c.1262T>A (p.Val421Glu) c.1307T>A (p.Val436Glu) | |
2 | g.26483593C>A | CA346136851 | OTOF | c.1261G>T (p.Val421Leu) c.1306G>T (p.Val436Leu) | |
2 | g.26483593C>G | CA346136853 | OTOF | c.1261G>C (p.Val421Leu) c.1306G>C (p.Val436Leu) | |
2 | g.26483593C>T | CA346136855 | OTOF | c.1261G>A (p.Val421Met) c.1306G>A (p.Val436Met) | gnomAD v4 |
2 | g.26483594A= | CA1239830434 | OTOF | c.1260T= (p.Tyr420=) c.1305T= (p.Tyr435=) | |
2 | g.26483594A>C | CA346136858 | OTOF | c.1260T>G (p.Tyr420Ter) c.1305T>G (p.Tyr435Ter) | |
2 | g.26483594A>G | CA425207177 | OTOF | c.1260T>C (p.Tyr420=) c.1305T>C (p.Tyr435=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483594A>T | CA346136860 | OTOF | c.1260T>A (p.Tyr420Ter) c.1305T>A (p.Tyr435Ter) | |
2 | g.26483595T>A | CA346136863 | OTOF | c.1259A>T (p.Tyr420Phe) c.1304A>T (p.Tyr435Phe) | dbSNP |
2 | g.26483595T>C | CA346136865 | OTOF | c.1259A>G (p.Tyr420Cys) c.1304A>G (p.Tyr435Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483595T>G | CA346136867 | OTOF | c.1259A>C (p.Tyr420Ser) c.1304A>C (p.Tyr435Ser) | |
2 | g.26483595T= | CA1239830436 | OTOF | c.1259A= (p.Tyr420=) c.1304A= (p.Tyr435=) | |
2 | g.26483596A= | CA1239830437 | OTOF | c.1258T= (p.Tyr420=) c.1303T= (p.Tyr435=) | |
2 | g.26483596A>C | CA346136870 | OTOF | c.1258T>G (p.Tyr420Asp) c.1303T>G (p.Tyr435Asp) | |
2 | g.26483596A>G | CA1564323 | OTOF | c.1258T>C (p.Tyr420His) c.1303T>C (p.Tyr435His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483596A>T | CA346136874 | OTOF | c.1258T>A (p.Tyr420Asn) c.1303T>A (p.Tyr435Asn) | |
2 | g.26483597G>A | CA425207178 | OTOF | c.1257C>T (p.Phe419=) c.1302C>T (p.Phe434=) | |
2 | g.26483597G>C | CA346136875 | OTOF | c.1257C>G (p.Phe419Leu) c.1302C>G (p.Phe434Leu) | |
2 | g.26483597G>T | CA346136876 | OTOF | c.1257C>A (p.Phe419Leu) c.1302C>A (p.Phe434Leu) | |
2 | g.26483598A>C | CA346136877 | OTOF | c.1256T>G (p.Phe419Cys) c.1301T>G (p.Phe434Cys) | |
2 | g.26483598A>G | CA346136879 | OTOF | c.1256T>C (p.Phe419Ser) c.1301T>C (p.Phe434Ser) | gnomAD v4 |
2 | g.26483598A>T | CA346136882 | OTOF | c.1256T>A (p.Phe419Tyr) c.1301T>A (p.Phe434Tyr) | |
2 | g.26483599A>C | CA346136888 | OTOF | c.1255T>G (p.Phe419Val) c.1300T>G (p.Phe434Val) | |
2 | g.26483599A>G | CA346136891 | OTOF | c.1255T>C (p.Phe419Leu) c.1300T>C (p.Phe434Leu) | |
2 | g.26483599A>T | CA346136887 | OTOF | c.1255T>A (p.Phe419Ile) c.1300T>A (p.Phe434Ile) | |
2 | g.26483600C>A | CA425207179 | OTOF | c.1254G>T (p.Arg418=) c.1299G>T (p.Arg433=) | |
2 | g.26483600C>G | CA425207180 | OTOF | c.1254G>C (p.Arg418=) c.1299G>C (p.Arg433=) | |
2 | g.26483600C>T | CA425207181 | OTOF | c.1254G>A (p.Arg418=) c.1299G>A (p.Arg433=) | |
2 | g.26483601C>A | CA346136895 | OTOF | c.1253G>T (p.Arg418Leu) c.1298G>T (p.Arg433Leu) | gnomAD v4 |
2 | g.26483601C= | CA1239830439 | OTOF | c.1253G= (p.Arg418=) c.1298G= (p.Arg433=) | |
2 | g.26483601C>G | CA346136897 | OTOF | c.1253G>C (p.Arg418Pro) c.1298G>C (p.Arg433Pro) | |
2 | g.26483601C>T | CA1564324 | OTOF | c.1253G>A (p.Arg418Gln) c.1298G>A (p.Arg433Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483602G>A | CA1564325 | OTOF | c.1252C>T (p.Arg418Trp) c.1297C>T (p.Arg433Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483602G>C | CA346136904 | OTOF | c.1252C>G (p.Arg418Gly) c.1297C>G (p.Arg433Gly) | |
2 | g.26483602G= | CA1239830441 | OTOF | c.1252C= (p.Arg418=) c.1297C= (p.Arg433=) | |
2 | g.26483602G>T | CA425207182 | OTOF | c.1252C>A (p.Arg418=) c.1297C>A (p.Arg433=) | |
2 | g.26483603G>A | CA425207185 | OTOF | c.1251C>T (p.Ala417=) c.1296C>T (p.Ala432=) | gnomAD v4 |
2 | g.26483603G>C | CA425207184 | OTOF | c.1251C>G (p.Ala417=) c.1296C>G (p.Ala432=) | |
2 | g.26483603G>T | CA425207183 | OTOF | c.1251C>A (p.Ala417=) c.1296C>A (p.Ala432=) | dbSNP |
2 | g.26483604G>A | CA346136911 | OTOF | c.1250C>T (p.Ala417Val) c.1295C>T (p.Ala432Val) | |
2 | g.26483604G>C | CA346136909 | OTOF | c.1250C>G (p.Ala417Gly) c.1295C>G (p.Ala432Gly) | |
2 | g.26483604G>T | CA346136907 | OTOF | c.1250C>A (p.Ala417Asp) c.1295C>A (p.Ala432Asp) | gnomAD v4 |
2 | g.26483605C>A | CA1564326 | OTOF | c.1249G>T (p.Ala417Ser) c.1294G>T (p.Ala432Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483605C= | CA1239830443 | OTOF | c.1249G= (p.Ala417=) c.1294G= (p.Ala432=) | |
2 | g.26483605C>G | CA346136916 | OTOF | c.1249G>C (p.Ala417Pro) c.1294G>C (p.Ala432Pro) | |
2 | g.26483605C>T | CA346136919 | OTOF | c.1249G>A (p.Ala417Thr) c.1294G>A (p.Ala432Thr) | dbSNP |
2 | g.26483606C>A | CA346136922 | OTOF | c.1248G>T (p.Trp416Cys) c.1293G>T (p.Trp431Cys) | |
2 | g.26483606C>G | CA346136924 | OTOF | c.1248G>C (p.Trp416Cys) c.1293G>C (p.Trp431Cys) | |
2 | g.26483606C>T | CA346136926 | OTOF | c.1248G>A (p.Trp416Ter) c.1293G>A (p.Trp431Ter) | gnomAD v4 |
2 | g.26483607C>A | CA346136928 | OTOF | c.1247G>T (p.Trp416Leu) c.1292G>T (p.Trp431Leu) | |
2 | g.26483607C= | CA1239830444 | OTOF | c.1247G= (p.Trp416=) c.1292G= (p.Trp431=) | |
2 | g.26483607C>G | CA346136933 | OTOF | c.1247G>C (p.Trp416Ser) c.1292G>C (p.Trp431Ser) | |
2 | g.26483607C>T | CA346136931 | OTOF | c.1247G>A (p.Trp416Ter) c.1292G>A (p.Trp431Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483608A= | CA1239830446 | OTOF | c.1246T= (p.Trp416=) c.1291T= (p.Trp431=) | |
2 | g.26483608A>C | CA346136936 | OTOF | c.1246T>G (p.Trp416Gly) c.1291T>G (p.Trp431Gly) | |
2 | g.26483608A>G | CA1564327 | OTOF | c.1246T>C (p.Trp416Arg) c.1291T>C (p.Trp431Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483608A>T | CA346136941 | OTOF | c.1246T>A (p.Trp416Arg) c.1291T>A (p.Trp431Arg) | |
2 | g.26483609C>A | CA346136945 | OTOF | c.1245G>T (p.Gln415His) c.1290G>T (p.Gln430His) | |
2 | g.26483609C= | CA1239830447 | OTOF | c.1245G= (p.Gln415=) c.1290G= (p.Gln430=) | |
2 | g.26483609C>G | CA346136947 | OTOF | c.1245G>C (p.Gln415His) c.1290G>C (p.Gln430His) | |
2 | g.26483609C>T | CA425207186 | OTOF | c.1245G>A (p.Gln415=) c.1290G>A (p.Gln430=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483610T>A | CA346136951 | OTOF | c.1244A>T (p.Gln415Leu) c.1289A>T (p.Gln430Leu) | |
2 | g.26483610T>C | CA346136953 | OTOF | c.1244A>G (p.Gln415Arg) c.1289A>G (p.Gln430Arg) | |
2 | g.26483610T>G | CA346136955 | OTOF | c.1244A>C (p.Gln415Pro) c.1289A>C (p.Gln430Pro) | gnomAD v4 |
2 | g.26483611G>A | CA346136959 | OTOF | c.1243C>T (p.Gln415Ter) c.1288C>T (p.Gln430Ter) | |
2 | g.26483611G>C | CA346136961 | OTOF | c.1243C>G (p.Gln415Glu) c.1288C>G (p.Gln430Glu) | |
2 | g.26483611G>T | CA346136963 | OTOF | c.1243C>A (p.Gln415Lys) c.1288C>A (p.Gln430Lys) | |
2 | g.26483612G>A | CA425207187 | OTOF | c.1242C>T (p.Arg414=) c.1287C>T (p.Arg429=) | |
2 | g.26483612G>C | CA425207189 | OTOF | c.1242C>G (p.Arg414=) c.1287C>G (p.Arg429=) | ClinVar |
2 | g.26483612G>T | CA425207188 | OTOF | c.1242C>A (p.Arg414=) c.1287C>A (p.Arg429=) | |
2 | g.26483613C>A | CA346136972 | OTOF | c.1241G>T (p.Arg414Leu) c.1286G>T (p.Arg429Leu) | |
2 | g.26483613C= | CA1239830448 | OTOF | c.1241G= (p.Arg414=) c.1286G= (p.Arg429=) | |
2 | g.26483613C>G | CA346136970 | OTOF | c.1241G>C (p.Arg414Pro) c.1286G>C (p.Arg429Pro) | |
2 | g.26483613C>T | CA44402414 | OTOF | c.1241G>A (p.Arg414His) c.1286G>A (p.Arg429His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.26483614G>A | CA1564328 | OTOF | c.1240C>T (p.Arg414Cys) c.1285C>T (p.Arg429Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483614G>C | CA346136980 | OTOF | c.1240C>G (p.Arg414Gly) c.1285C>G (p.Arg429Gly) | |
2 | g.26483614G= | CA1239830451 | OTOF | c.1240C= (p.Arg414=) c.1285C= (p.Arg429=) | |
2 | g.26483614G>T | CA346136978 | OTOF | c.1240C>A (p.Arg414Ser) c.1285C>A (p.Arg429Ser) | |
2 | g.26483615T>A | CA346136983 | OTOF | c.1239A>T (p.Glu413Asp) c.1284A>T (p.Glu428Asp) | |
2 | g.26483615T>C | CA425207190 | OTOF | c.1239A>G (p.Glu413=) c.1284A>G (p.Glu428=) | |
2 | g.26483615T>G | CA346136985 | OTOF | c.1239A>C (p.Glu413Asp) c.1284A>C (p.Glu428Asp) | |
2 | g.26483616T>A | CA346136989 | OTOF | c.1238A>T (p.Glu413Val) c.1283A>T (p.Glu428Val) | |
2 | g.26483616T>C | CA346136992 | OTOF | c.1238A>G (p.Glu413Gly) c.1283A>G (p.Glu428Gly) | |
2 | g.26483616T>G | CA346136994 | OTOF | c.1238A>C (p.Glu413Ala) c.1283A>C (p.Glu428Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483616T= | CA1239830453 | OTOF | c.1238A= (p.Glu413=) c.1283A= (p.Glu428=) | |
2 | g.26483617C>A | CA346136998 | OTOF | c.1237G>T (p.Glu413Ter) c.1282G>T (p.Glu428Ter) | |
2 | g.26483617C= | CA1239830455 | OTOF | c.1237G= (p.Glu413=) c.1282G= (p.Glu428=) | |
2 | g.26483617C>G | CA346137001 | OTOF | c.1237G>C (p.Glu413Gln) c.1282G>C (p.Glu428Gln) | |
2 | g.26483617C>T | CA1564329 | OTOF | c.1237G>A (p.Glu413Lys) c.1282G>A (p.Glu428Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26483617_26483618delinsCG | CA1239830454 | OTOF | c.1236_1237delinsCG (p.Pro412=) c.1281_1282delinsCG (p.Pro427=) | |
2 | g.26483618G>A | CA1564331 | OTOF | c.1236C>T (p.Pro412=) c.1281C>T (p.Pro427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483618G>C | CA425207191 | OTOF | c.1236C>G (p.Pro412=) c.1281C>G (p.Pro427=) | |
2 | g.26483618G= | CA1239830458 | OTOF | c.1236C= (p.Pro412=) c.1281C= (p.Pro427=) | |
2 | g.26483618G>T | CA425207192 | OTOF | c.1236C>A (p.Pro412=) c.1281C>A (p.Pro427=) | |
2 | g.26483623dup | CA1564330 | OTOF | c.1236dup (p.Glu413ArgfsTer?) c.1281dup (p.Glu428ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483622_26483623dup | CA2749240847 | OTOF | c.1235_1236dup (p.Glu413ProfsTer10) c.1280_1281dup (p.Glu428ProfsTer10) | |
2 | g.26483623del | CA345086 | OTOF | c.1236del (p.Glu413AsnfsTer9) c.1281del (p.Glu428AsnfsTer9) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.26483619G>A | CA346137030 | OTOF | c.1235C>T (p.Pro412Leu) c.1280C>T (p.Pro427Leu) | |
2 | g.26483619G>C | CA346137027 | OTOF | c.1235C>G (p.Pro412Arg) c.1280C>G (p.Pro427Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483619G= | CA1239830462 | OTOF | c.1235C= (p.Pro412=) c.1280C= (p.Pro427=) | |
2 | g.26483619G>T | CA346137023 | OTOF | c.1235C>A (p.Pro412His) c.1280C>A (p.Pro427His) | |
2 | g.26483620G>A | CA346137034 | OTOF | c.1234C>T (p.Pro412Ser) c.1279C>T (p.Pro427Ser) | |
2 | g.26483620G>C | CA346137036 | OTOF | c.1234C>G (p.Pro412Ala) c.1279C>G (p.Pro427Ala) | |
2 | g.26483620G>T | CA346137039 | OTOF | c.1234C>A (p.Pro412Thr) c.1279C>A (p.Pro427Thr) | |
2 | g.26483621G>A | CA44402423 | OTOF | c.1233C>T (p.Pro411=) c.1278C>T (p.Pro426=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483621G>C | CA425207194 | OTOF | c.1233C>G (p.Pro411=) c.1278C>G (p.Pro426=) | dbSNP |
2 | g.26483621G= | CA1239830464 | OTOF | c.1233C= (p.Pro411=) c.1278C= (p.Pro426=) | |
2 | g.26483621G>T | CA425207193 | OTOF | c.1233C>A (p.Pro411=) c.1278C>A (p.Pro426=) | |
2 | g.26483622G>A | CA346137042 | OTOF | c.1232C>T (p.Pro411Leu) c.1277C>T (p.Pro426Leu) | |
2 | g.26483622G>C | CA346137044 | OTOF | c.1232C>G (p.Pro411Arg) c.1277C>G (p.Pro426Arg) | |
2 | g.26483622G>T | CA346137047 | OTOF | c.1232C>A (p.Pro411His) c.1277C>A (p.Pro426His) | |
2 | g.26483622_26483623insCCC | CA2749240848 | OTOF | c.1231_1232insGGG (p.Pro411delinsArgAla) c.1276_1277insGGG (p.Pro426delinsArgAla) | |
2 | g.26483623G>A | CA1564332 | OTOF | c.1231C>T (p.Pro411Ser) c.1276C>T (p.Pro426Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483623G>C | CA346137053 | OTOF | c.1231C>G (p.Pro411Ala) c.1276C>G (p.Pro426Ala) | gnomAD v4 |
2 | g.26483623G= | CA1239830466 | OTOF | c.1231C= (p.Pro411=) c.1276C= (p.Pro426=) | |
2 | g.26483623G>T | CA346137056 | OTOF | c.1231C>A (p.Pro411Thr) c.1276C>A (p.Pro426Thr) | |
2 | g.26483624C>A | CA425207195 | OTOF | c.1230G>T (p.Val410=) c.1275G>T (p.Val425=) | dbSNP gnomAD v2 |
2 | g.26483624C= | CA1239830468 | OTOF | c.1230G= (p.Val410=) c.1275G= (p.Val425=) | |
2 | g.26483624C>G | CA425207196 | OTOF | c.1230G>C (p.Val410=) c.1275G>C (p.Val425=) | |
2 | g.26483624C>T | CA425207197 | OTOF | c.1230G>A (p.Val410=) c.1275G>A (p.Val425=) | |
2 | g.26483625A= | CA1239830470 | OTOF | c.1229T= (p.Val410=) c.1274T= (p.Val425=) | |
2 | g.26483625A>C | CA346137058 | OTOF | c.1229T>G (p.Val410Gly) c.1274T>G (p.Val425Gly) | dbSNP |
2 | g.26483625A>G | CA346137060 | OTOF | c.1229T>C (p.Val410Ala) c.1274T>C (p.Val425Ala) | |
2 | g.26483625A>T | CA346137062 | OTOF | c.1229T>A (p.Val410Glu) c.1274T>A (p.Val425Glu) | |
2 | g.26483626C>A | CA346137070 | OTOF | c.1228G>T (p.Val410Leu) c.1273G>T (p.Val425Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26483626C= | CA1239830473 | OTOF | c.1228G= (p.Val410=) c.1273G= (p.Val425=) | |
2 | g.26483626C>G | CA1564333 | OTOF | c.1228G>C (p.Val410Leu) c.1273G>C (p.Val425Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483626C>T | CA346137067 | OTOF | c.1228G>A (p.Val410Met) c.1273G>A (p.Val425Met) | gnomAD v4 |
2 | g.26483627C>A | CA425207198 | OTOF | c.1227G>T (p.Gly409=) c.1272G>T (p.Gly424=) | |
2 | g.26483627C= | CA1239830476 | OTOF | c.1227G= (p.Gly409=) c.1272G= (p.Gly424=) | |
2 | g.26483627C>G | CA10615100 | OTOF | c.1227G>C (p.Gly409=) c.1272G>C (p.Gly424=) | ClinVar dbSNP |
2 | g.26483627C>T | CA425207199 | OTOF | c.1227G>A (p.Gly409=) c.1272G>A (p.Gly424=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26483628C>A | CA346137077 | OTOF | c.1226G>T (p.Gly409Val) c.1271G>T (p.Gly424Val) | |
2 | g.26483628C>G | CA346137079 | OTOF | c.1226G>C (p.Gly409Ala) c.1271G>C (p.Gly424Ala) | |
2 | g.26483628C>T | CA346137082 | OTOF | c.1226G>A (p.Gly409Glu) c.1271G>A (p.Gly424Glu) | |
2 | g.26483629C>A | CA346137085 | OTOF | c.1225G>T (p.Gly409Trp) c.1270G>T (p.Gly424Trp) | |
2 | g.26483629C>G | CA346137087 | OTOF | c.1225G>C (p.Gly409Arg) c.1270G>C (p.Gly424Arg) | |
2 | g.26483629C>T | CA346137090 | OTOF | c.1225G>A (p.Gly409Arg) c.1270G>A (p.Gly424Arg) | COSMIC |