Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |