Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26482485T>A | CA425206556 | OTOF | c.1500A>T (p.Arg500=) c.1545A>T (p.Arg515=) | |
2 | g.26482485T>C | CA425206555 | OTOF | c.1500A>G (p.Arg500=) c.1545A>G (p.Arg515=) | |
2 | g.26482485T>G | CA425206554 | OTOF | c.1500A>C (p.Arg500=) c.1545A>C (p.Arg515=) | |
2 | g.26482486C>A | CA346135381 | OTOF | c.1499G>T (p.Arg500Leu) c.1544G>T (p.Arg515Leu) | |
2 | g.26482486C= | CA1239829012 | OTOF | c.1499G= (p.Arg500=) c.1544G= (p.Arg515=) | |
2 | g.26482486C>G | CA346135380 | OTOF | c.1499G>C (p.Arg500Pro) c.1544G>C (p.Arg515Pro) | |
2 | g.26482486C>T | CA1564257 | OTOF | c.1499G>A (p.Arg500Gln) c.1544G>A (p.Arg515Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26482487G>A | CA1564258 | OTOF | c.1498C>T (p.Arg500Ter) c.1543C>T (p.Arg515Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26482487G>C | CA346135385 | OTOF | c.1498C>G (p.Arg500Gly) c.1543C>G (p.Arg515Gly) | |
2 | g.26482487G= | CA1239829015 | OTOF | c.1498C= (p.Arg500=) c.1543C= (p.Arg515=) | |
2 | g.26482487G>T | CA425206560 | OTOF | c.1498C>A (p.Arg500=) c.1543C>A (p.Arg515=) | |
2 | g.26482488G>A | CA425206562 | OTOF | c.1497C>T (p.Ile499=) c.1542C>T (p.Ile514=) | |
2 | g.26482488G>C | CA346135389 | OTOF | c.1497C>G (p.Ile499Met) c.1542C>G (p.Ile514Met) | |
2 | g.26482488G>T | CA425206564 | OTOF | c.1497C>A (p.Ile499=) c.1542C>A (p.Ile514=) | |
2 | g.26482489A>C | CA346135393 | OTOF | c.1496T>G (p.Ile499Ser) c.1541T>G (p.Ile514Ser) | |
2 | g.26482489A>G | CA346135395 | OTOF | c.1496T>C (p.Ile499Thr) c.1541T>C (p.Ile514Thr) | |
2 | g.26482489A>T | CA346135397 | OTOF | c.1496T>A (p.Ile499Asn) c.1541T>A (p.Ile514Asn) | |
2 | g.26482490T>A | CA346135401 | OTOF | c.1495A>T (p.Ile499Phe) c.1540A>T (p.Ile514Phe) | |
2 | g.26482490T>C | CA346135405 | OTOF | c.1495A>G (p.Ile499Val) c.1540A>G (p.Ile514Val) | |
2 | g.26482490T>G | CA346135403 | OTOF | c.1495A>C (p.Ile499Leu) c.1540A>C (p.Ile514Leu) | |
2 | g.26482491C>A | CA346135409 | OTOF | c.1494G>T (p.Gln498His) c.1539G>T (p.Gln513His) | |
2 | g.26482491C>G | CA346135412 | OTOF | c.1494G>C (p.Gln498His) c.1539G>C (p.Gln513His) | |
2 | g.26482491C>T | CA425206574 | OTOF | c.1494G>A (p.Gln498=) c.1539G>A (p.Gln513=) | |
2 | g.26482492T>A | CA346135416 | OTOF | c.1493A>T (p.Gln498Leu) c.1538A>T (p.Gln513Leu) | |
2 | g.26482492T>C | CA346135418 | OTOF | c.1493A>G (p.Gln498Arg) c.1538A>G (p.Gln513Arg) | |
2 | g.26482492T>G | CA346135420 | OTOF | c.1493A>C (p.Gln498Pro) c.1538A>C (p.Gln513Pro) | ClinVar |
2 | g.26482493G>A | CA346135424 | OTOF | c.1492C>T (p.Gln498Ter) c.1537C>T (p.Gln513Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26482493G>C | CA346135425 | OTOF | c.1492C>G (p.Gln498Glu) c.1537C>G (p.Gln513Glu) | |
2 | g.26482493G= | CA1239829017 | OTOF | c.1492C= (p.Gln498=) c.1537C= (p.Gln513=) | |
2 | g.26482493G>T | CA346135427 | OTOF | c.1492C>A (p.Gln498Lys) c.1537C>A (p.Gln513Lys) | |
2 | g.26482494C>A | CA425206578 | OTOF | c.1491G>T (p.Val497=) c.1536G>T (p.Val512=) | |
2 | g.26482494C>G | CA425206579 | OTOF | c.1491G>C (p.Val497=) c.1536G>C (p.Val512=) | |
2 | g.26482494C>T | CA425206581 | OTOF | c.1491G>A (p.Val497=) c.1536G>A (p.Val512=) | |
2 | g.26482495A>C | CA346135430 | OTOF | c.1490T>G (p.Val497Gly) c.1535T>G (p.Val512Gly) | gnomAD v4 |
2 | g.26482495A>G | CA346135433 | OTOF | c.1490T>C (p.Val497Ala) c.1535T>C (p.Val512Ala) | |
2 | g.26482495A>T | CA346135435 | OTOF | c.1490T>A (p.Val497Glu) c.1535T>A (p.Val512Glu) | |
2 | g.26482496C>A | CA346135439 | OTOF | c.1489G>T (p.Val497Leu) c.1534G>T (p.Val512Leu) | dbSNP |
2 | g.26482496C= | CA1239829025 | OTOF | c.1489G= (p.Val497=) c.1534G= (p.Val512=) | |
2 | g.26482496C>G | CA346135442 | OTOF | c.1489G>C (p.Val497Leu) c.1534G>C (p.Val512Leu) | |
2 | g.26482496C>T | CA1564259 | OTOF | c.1489G>A (p.Val497Met) c.1534G>A (p.Val512Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26482497C>A | CA346135445 | OTOF | c.1488G>T (p.Lys496Asn) c.1533G>T (p.Lys511Asn) | |
2 | g.26482497C>G | CA346135448 | OTOF | c.1488G>C (p.Lys496Asn) c.1533G>C (p.Lys511Asn) | gnomAD v4 |
2 | g.26482497C>T | CA425206586 | OTOF | c.1488G>A (p.Lys496=) c.1533G>A (p.Lys511=) | |
2 | g.26482498T>A | CA346135461 | OTOF | c.1487A>T (p.Lys496Met) c.1532A>T (p.Lys511Met) | |
2 | g.26482498T>C | CA346135464 | OTOF | c.1487A>G (p.Lys496Arg) c.1532A>G (p.Lys511Arg) | |
2 | g.26482498T>G | CA346135462 | OTOF | c.1487A>C (p.Lys496Thr) c.1532A>C (p.Lys511Thr) | |
2 | g.26482499T>A | CA346135468 | OTOF | c.1486A>T (p.Lys496Ter) c.1531A>T (p.Lys511Ter) | |
2 | g.26482499T>C | CA346135483 | OTOF | c.1486A>G (p.Lys496Glu) c.1531A>G (p.Lys511Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26482499T>G | CA346135486 | OTOF | c.1486A>C (p.Lys496Gln) c.1531A>C (p.Lys511Gln) | |
2 | g.26482499T= | CA1239829031 | OTOF | c.1486A= (p.Lys496=) c.1531A= (p.Lys511=) | |
2 | g.26482500C>A | CA346135491 | OTOF | c.1485G>T (p.Met495Ile) c.1530G>T (p.Met510Ile) | COSMIC |
2 | g.26482500C>G | CA346135493 | OTOF | c.1485G>C (p.Met495Ile) c.1530G>C (p.Met510Ile) | |
2 | g.26482500C>T | CA346135495 | OTOF | c.1485G>A (p.Met495Ile) c.1530G>A (p.Met510Ile) | |
2 | g.26482501A= | CA1239829032 | OTOF | c.1484T= (p.Met495=) c.1529T= (p.Met510=) | |
2 | g.26482501A>C | CA346135498 | OTOF | c.1484T>G (p.Met495Arg) c.1529T>G (p.Met510Arg) | gnomAD v4 |
2 | g.26482501A>G | CA346135500 | OTOF | c.1484T>C (p.Met495Thr) c.1529T>C (p.Met510Thr) | dbSNP gnomAD v4 |
2 | g.26482501A>T | CA346135503 | OTOF | c.1484T>A (p.Met495Lys) c.1529T>A (p.Met510Lys) | |
2 | g.26482502T>A | CA346135506 | OTOF | c.1483A>T (p.Met495Leu) c.1528A>T (p.Met510Leu) | |
2 | g.26482502T>C | CA346135508 | OTOF | c.1483A>G (p.Met495Val) c.1528A>G (p.Met510Val) | |
2 | g.26482502T>G | CA346135510 | OTOF | c.1483A>C (p.Met495Leu) c.1528A>C (p.Met510Leu) | |
2 | g.26482503G>A | CA425206592 | OTOF | c.1482C>T (p.Arg494=) c.1527C>T (p.Arg509=) | |
2 | g.26482503G>C | CA425206594 | OTOF | c.1482C>G (p.Arg494=) c.1527C>G (p.Arg509=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26482503G= | CA1239829035 | OTOF | c.1482C= (p.Arg494=) c.1527C= (p.Arg509=) | |
2 | g.26482503G>T | CA425206593 | OTOF | c.1482C>A (p.Arg494=) c.1527C>A (p.Arg509=) | |
2 | g.26482504del | CA645529723 | OTOF | c.1481del (p.Arg494ProfsTer2) c.1526del (p.Arg509ProfsTer2) | COSMIC |
2 | g.26482504C>A | CA44401587 | OTOF | c.1481G>T (p.Arg494Leu) c.1526G>T (p.Arg509Leu) | dbSNP gnomAD v4 |
2 | g.26482504C= | CA1239829040 | OTOF | c.1481G= (p.Arg494=) c.1526G= (p.Arg509=) | |
2 | g.26482504C>G | CA346135514 | OTOF | c.1481G>C (p.Arg494Pro) c.1526G>C (p.Arg509Pro) | |
2 | g.26482504C>T | CA1564260 | OTOF | c.1481G>A (p.Arg494His) c.1526G>A (p.Arg509His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.26482504_26482506del | CA2586968846 | OTOF | c.1479_1481del (p.Lys493_Arg494delinsAsn) c.1524_1526del (p.Lys508_Arg509delinsAsn) | |
2 | g.26482505G>A | CA1564261 | OTOF | c.1480C>T (p.Arg494Cys) c.1525C>T (p.Arg509Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26482505G>C | CA346135523 | OTOF | c.1480C>G (p.Arg494Gly) c.1525C>G (p.Arg509Gly) | |
2 | g.26482505G= | CA1239829045 | OTOF | c.1480C= (p.Arg494=) c.1525C= (p.Arg509=) | |
2 | g.26482505G>T | CA346135526 | OTOF | c.1480C>A (p.Arg494Ser) c.1525C>A (p.Arg509Ser) | COSMIC |
2 | g.26482506T>A | CA346135528 | OTOF | c.1479A>T (p.Lys493Asn) c.1524A>T (p.Lys508Asn) | |
2 | g.26482506T>C | CA425206602 | OTOF | c.1479A>G (p.Lys493=) c.1524A>G (p.Lys508=) | |
2 | g.26482506T>G | CA346135531 | OTOF | c.1479A>C (p.Lys493Asn) c.1524A>C (p.Lys508Asn) | |
2 | g.26482507_26482508dup | CA2658238775 | OTOF | c.1478_1479dup (p.Arg494AsnfsTer3) c.1523_1524dup (p.Arg509AsnfsTer3) | gnomAD v4 |
2 | g.26482508del | CA2658238776 | OTOF | c.1479del (p.Lys493AsnfsTer3) c.1524del (p.Lys508AsnfsTer3) | gnomAD v4 |
2 | g.26482507T>A | CA346135534 | OTOF | c.1478A>T (p.Lys493Ile) c.1523A>T (p.Lys508Ile) | |
2 | g.26482507T>C | CA346135537 | OTOF | c.1478A>G (p.Lys493Arg) c.1523A>G (p.Lys508Arg) | |
2 | g.26482507T>G | CA346135539 | OTOF | c.1478A>C (p.Lys493Thr) c.1523A>C (p.Lys508Thr) | |
2 | g.26482508T>A | CA346135541 | OTOF | c.1477A>T (p.Lys493Ter) c.1522A>T (p.Lys508Ter) | |
2 | g.26482508T>C | CA346135542 | OTOF | c.1477A>G (p.Lys493Glu) c.1522A>G (p.Lys508Glu) | |
2 | g.26482508T>G | CA346135544 | OTOF | c.1477A>C (p.Lys493Gln) c.1522A>C (p.Lys508Gln) | |
2 | g.26482509G>A | CA425206605 | OTOF | c.1476C>T (p.Cys492=) c.1521C>T (p.Cys507=) | |
2 | g.26482509G>C | CA346135547 | OTOF | c.1476C>G (p.Cys492Trp) c.1521C>G (p.Cys507Trp) | |
2 | g.26482509G>T | CA346135549 | OTOF | c.1476C>A (p.Cys492Ter) c.1521C>A (p.Cys507Ter) | |
2 | g.26482510C>A | CA346135553 | OTOF | c.1475G>T (p.Cys492Phe) c.1520G>T (p.Cys507Phe) | |
2 | g.26482510C= | CA1239829048 | OTOF | c.1475G= (p.Cys492=) c.1520G= (p.Cys507=) | |
2 | g.26482510C>G | CA346135555 | OTOF | c.1475G>C (p.Cys492Ser) c.1520G>C (p.Cys507Ser) | |
2 | g.26482510C>T | CA346135557 | OTOF | c.1475G>A (p.Cys492Tyr) c.1520G>A (p.Cys507Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26482511A= | CA1239829049 | OTOF | c.1474T= (p.Cys492=) c.1519T= (p.Cys507=) | |
2 | g.26482511A>C | CA346135559 | OTOF | c.1474T>G (p.Cys492Gly) c.1519T>G (p.Cys507Gly) | |
2 | g.26482511A>G | CA346135562 | OTOF | c.1474T>C (p.Cys492Arg) c.1519T>C (p.Cys507Arg) | dbSNP gnomAD v4 |
2 | g.26482511A>T | CA346135565 | OTOF | c.1474T>A (p.Cys492Ser) c.1519T>A (p.Cys507Ser) | |
2 | g.26482512G>A | CA425206618 | OTOF | c.1473C>T (p.Leu491=) c.1518C>T (p.Leu506=) | dbSNP gnomAD v4 |
2 | g.26482512G>C | CA425206620 | OTOF | c.1473C>G (p.Leu491=) c.1518C>G (p.Leu506=) | |
2 | g.26482512G= | CA1239829051 | OTOF | c.1473C= (p.Leu491=) c.1518C= (p.Leu506=) | |
2 | g.26482512G>T | CA425206621 | OTOF | c.1473C>A (p.Leu491=) c.1518C>A (p.Leu506=) | |
2 | g.26482513A>C | CA346135567 | OTOF | c.1472T>G (p.Leu491Arg) c.1517T>G (p.Leu506Arg) | |
2 | g.26482513A>G | CA346135570 | OTOF | c.1472T>C (p.Leu491Pro) c.1517T>C (p.Leu506Pro) | |
2 | g.26482513A>T | CA346135572 | OTOF | c.1472T>A (p.Leu491His) c.1517T>A (p.Leu506His) | gnomAD v4 |
2 | g.26482514G>A | CA1564262 | OTOF | c.1471C>T (p.Leu491Phe) c.1516C>T (p.Leu506Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26482514G>C | CA346135577 | OTOF | c.1471C>G (p.Leu491Val) c.1516C>G (p.Leu506Val) | |
2 | g.26482514G= | CA1239829056 | OTOF | c.1471C= (p.Leu491=) c.1516C= (p.Leu506=) | |
2 | g.26482514G>T | CA346135580 | OTOF | c.1471C>A (p.Leu491Ile) c.1516C>A (p.Leu506Ile) | |
2 | g.26482515T>A | CA425206623 | OTOF | c.1470A>T (p.Pro490=) c.1515A>T (p.Pro505=) | |
2 | g.26482515T>C | CA425206624 | OTOF | c.1470A>G (p.Pro490=) c.1515A>G (p.Pro505=) | |
2 | g.26482515T>G | CA425206626 | OTOF | c.1470A>C (p.Pro490=) c.1515A>C (p.Pro505=) | gnomAD v4 |
2 | g.26482515_26482516delinsTG | CA1239829062 | OTOF | c.1469_1470delinsCA (p.Pro490=) c.1514_1515delinsCA (p.Pro505=) | |
2 | g.26482516G>A | CA44401598 | OTOF | c.1469C>T (p.Pro490Leu) c.1514C>T (p.Pro505Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26482516G>C | CA142742 | OTOF | c.1469C>G (p.Pro490Arg) c.1514C>G (p.Pro505Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26482516G= | CA1239829075 | OTOF | c.1469C= (p.Pro490=) c.1514C= (p.Pro505=) | |
2 | g.26482516G>T | CA342559 | OTOF | c.1469C>A (p.Pro490Gln) c.1514C>A (p.Pro505Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26482521dup | CA531395944 | OTOF | c.1469dup (p.Leu491ThrfsTer26) c.1514dup (p.Leu506ThrfsTer26) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26482521del | CA1564263 | OTOF | c.1469del (p.Pro490HisfsTer6) c.1514del (p.Pro505HisfsTer6) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26482520_26482521del | CA2658238777 | OTOF | c.1468_1469del (p.Pro490ThrfsTer26) c.1513_1514del (p.Pro505ThrfsTer26) | ClinVar gnomAD v4 |
2 | g.26482517G>A | CA346135591 | OTOF | c.1468C>T (p.Pro490Ser) c.1513C>T (p.Pro505Ser) | gnomAD v4 |
2 | g.26482517G>C | CA346135594 | OTOF | c.1468C>G (p.Pro490Ala) c.1513C>G (p.Pro505Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26482517G= | CA1239829082 | OTOF | c.1468C= (p.Pro490=) c.1513C= (p.Pro505=) | |
2 | g.26482517G>T | CA346135595 | OTOF | c.1468C>A (p.Pro490Thr) c.1513C>A (p.Pro505Thr) | |
2 | g.26482518G>A | CA425206628 | OTOF | c.1467C>T (p.Pro489=) c.1512C>T (p.Pro504=) | gnomAD v4 |
2 | g.26482518G>C | CA425206631 | OTOF | c.1467C>G (p.Pro489=) c.1512C>G (p.Pro504=) | |
2 | g.26482518G>T | CA425206629 | OTOF | c.1467C>A (p.Pro489=) c.1512C>A (p.Pro504=) | |
2 | g.26482519G>A | CA346135601 | OTOF | c.1466C>T (p.Pro489Leu) c.1511C>T (p.Pro504Leu) | |
2 | g.26482519G>C | CA346135609 | OTOF | c.1466C>G (p.Pro489Arg) c.1511C>G (p.Pro504Arg) | |
2 | g.26482519G>T | CA346135611 | OTOF | c.1466C>A (p.Pro489His) c.1511C>A (p.Pro504His) | |
2 | g.26482520G>A | CA346135618 | OTOF | c.1465C>T (p.Pro489Ser) c.1510C>T (p.Pro504Ser) | |
2 | g.26482520G>C | CA346135620 | OTOF | c.1465C>G (p.Pro489Ala) c.1510C>G (p.Pro504Ala) | |
2 | g.26482520G>T | CA346135622 | OTOF | c.1465C>A (p.Pro489Thr) c.1510C>A (p.Pro504Thr) | gnomAD v4 |
2 | g.26482521G>A | CA425206636 | OTOF | c.1464C>T (p.Phe488=) c.1509C>T (p.Phe503=) | dbSNP COSMIC |
2 | g.26482521G>C | CA346135624 | OTOF | c.1464C>G (p.Phe488Leu) c.1509C>G (p.Phe503Leu) | |
2 | g.26482521G= | CA1239829087 | OTOF | c.1464C= (p.Phe488=) c.1509C= (p.Phe503=) | |
2 | g.26482521G>T | CA1564264 | OTOF | c.1464C>A (p.Phe488Leu) c.1509C>A (p.Phe503Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26482522A= | CA1239829091 | OTOF | c.1463T= (p.Phe488=) c.1508T= (p.Phe503=) | |
2 | g.26482522A>C | CA346135631 | OTOF | c.1463T>G (p.Phe488Cys) c.1508T>G (p.Phe503Cys) | gnomAD v4 |
2 | g.26482522A>G | CA346135628 | OTOF | c.1463T>C (p.Phe488Ser) c.1508T>C (p.Phe503Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26482522A>T | CA346135627 | OTOF | c.1463T>A (p.Phe488Tyr) c.1508T>A (p.Phe503Tyr) | |
2 | g.26482523A= | CA1239829096 | OTOF | c.1462T= (p.Phe488=) c.1507T= (p.Phe503=) | |
2 | g.26482523A>C | CA346135635 | OTOF | c.1462T>G (p.Phe488Val) c.1507T>G (p.Phe503Val) | |
2 | g.26482523A>G | CA44401603 | OTOF | c.1462T>C (p.Phe488Leu) c.1507T>C (p.Phe503Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26482523A>T | CA346135637 | OTOF | c.1462T>A (p.Phe488Ile) c.1507T>A (p.Phe503Ile) | |
2 | g.26482524G>A | CA425206646 | OTOF | c.1461C>T (p.Leu487=) c.1506C>T (p.Leu502=) | gnomAD v4 |
2 | g.26482524G>C | CA425206644 | OTOF | c.1461C>G (p.Leu487=) c.1506C>G (p.Leu502=) | |
2 | g.26482524G>T | CA425206647 | OTOF | c.1461C>A (p.Leu487=) c.1506C>A (p.Leu502=) | |
2 | g.26482525A>C | CA346135639 | OTOF | c.1460T>G (p.Leu487Arg) c.1505T>G (p.Leu502Arg) | |
2 | g.26482525A>G | CA346135640 | OTOF | c.1460T>C (p.Leu487Pro) c.1505T>C (p.Leu502Pro) | |
2 | g.26482525A>T | CA346135641 | OTOF | c.1460T>A (p.Leu487His) c.1505T>A (p.Leu502His) | gnomAD v4 |
2 | g.26482526G>A | CA346135642 | OTOF | c.1459C>T (p.Leu487Phe) c.1504C>T (p.Leu502Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26482526G>C | CA346135643 | OTOF | c.1459C>G (p.Leu487Val) c.1504C>G (p.Leu502Val) | |
2 | g.26482526G= | CA1239829098 | OTOF | c.1459C= (p.Leu487=) c.1504C= (p.Leu502=) | |
2 | g.26482526G>T | CA346135644 | OTOF | c.1459C>A (p.Leu487Ile) c.1504C>A (p.Leu502Ile) | |
2 | g.26482527G>A | CA425206658 | OTOF | c.1458C>T (p.Asp486=) c.1503C>T (p.Asp501=) | ClinVar gnomAD v4 |
2 | g.26482527G>C | CA346135645 | OTOF | c.1458C>G (p.Asp486Glu) c.1503C>G (p.Asp501Glu) | |
2 | g.26482527G>T | CA346135647 | OTOF | c.1458C>A (p.Asp486Glu) c.1503C>A (p.Asp501Glu) | |
2 | g.26482528T>A | CA346135649 | OTOF | c.1457A>T (p.Asp486Val) c.1502A>T (p.Asp501Val) | |
2 | g.26482528T>C | CA346135650 | OTOF | c.1457A>G (p.Asp486Gly) c.1502A>G (p.Asp501Gly) | |
2 | g.26482528T>G | CA346135651 | OTOF | c.1457A>C (p.Asp486Ala) c.1502A>C (p.Asp501Ala) | dbSNP |
2 | g.26482528T= | CA1239829101 | OTOF | c.1457A= (p.Asp486=) c.1502A= (p.Asp501=) | |
2 | g.26482529C>A | CA346135658 | OTOF | c.1456G>T (p.Asp486Tyr) c.1501G>T (p.Asp501Tyr) | gnomAD v4 |
2 | g.26482529C>G | CA346135653 | OTOF | c.1456G>C (p.Asp486His) c.1501G>C (p.Asp501His) | |
2 | g.26482529C>T | CA346135655 | OTOF | c.1456G>A (p.Asp486Asn) c.1501G>A (p.Asp501Asn) | |
2 | g.26482530T>A | CA425206660 | OTOF | c.1455A>T (p.Thr485=) c.1500A>T (p.Thr500=) | |
2 | g.26482530T>C | CA425206663 | OTOF | c.1455A>G (p.Thr485=) c.1500A>G (p.Thr500=) | |
2 | g.26482530T>G | CA425206662 | OTOF | c.1455A>C (p.Thr485=) c.1500A>C (p.Thr500=) | |
2 | g.26482531G>A | CA346135661 | OTOF | c.1454C>T (p.Thr485Ile) c.1499C>T (p.Thr500Ile) | |
2 | g.26482531G>C | CA346135663 | OTOF | c.1454C>G (p.Thr485Arg) c.1499C>G (p.Thr500Arg) | |
2 | g.26482531G>T | CA346135664 | OTOF | c.1454C>A (p.Thr485Lys) c.1499C>A (p.Thr500Lys) | |
2 | g.26482532T>A | CA346135666 | OTOF | c.1453A>T (p.Thr485Ser) c.1498A>T (p.Thr500Ser) | |
2 | g.26482532T>C | CA346135668 | OTOF | c.1453A>G (p.Thr485Ala) c.1498A>G (p.Thr500Ala) | |
2 | g.26482532T>G | CA346135670 | OTOF | c.1453A>C (p.Thr485Pro) c.1498A>C (p.Thr500Pro) | |
2 | g.26482533A>C | CA346135672 | OTOF | c.1452T>G (p.Phe484Leu) c.1497T>G (p.Phe499Leu) | |
2 | g.26482533A>G | CA425206667 | OTOF | c.1452T>C (p.Phe484=) c.1497T>C (p.Phe499=) | ClinVar gnomAD v4 |
2 | g.26482533A>T | CA346135674 | OTOF | c.1452T>A (p.Phe484Leu) c.1497T>A (p.Phe499Leu) | |
2 | g.26482534A>C | CA346135678 | OTOF | c.1451T>G (p.Phe484Cys) c.1496T>G (p.Phe499Cys) | |
2 | g.26482534A>G | CA346135680 | OTOF | c.1451T>C (p.Phe484Ser) c.1496T>C (p.Phe499Ser) | |
2 | g.26482534A>T | CA346135682 | OTOF | c.1451T>A (p.Phe484Tyr) c.1496T>A (p.Phe499Tyr) | |
2 | g.26482535A>C | CA346135686 | OTOF | c.1450T>G (p.Phe484Val) c.1495T>G (p.Phe499Val) | |
2 | g.26482535A>G | CA346135688 | OTOF | c.1450T>C (p.Phe484Leu) c.1495T>C (p.Phe499Leu) | gnomAD v4 |
2 | g.26482535A>T | CA346135685 | OTOF | c.1450T>A (p.Phe484Ile) c.1495T>A (p.Phe499Ile) | |
2 | g.26482536G>A | CA425206676 | OTOF | c.1449C>T (p.Val483=) c.1494C>T (p.Val498=) | |
2 | g.26482536G>C | CA425206677 | OTOF | c.1449C>G (p.Val483=) c.1494C>G (p.Val498=) | |
2 | g.26482536G>T | CA425206678 | OTOF | c.1449C>A (p.Val483=) c.1494C>A (p.Val498=) | |
2 | g.26482537A= | CA1239829105 | OTOF | c.1448T= (p.Val483=) c.1493T= (p.Val498=) | |
2 | g.26482537A>C | CA346135691 | OTOF | c.1448T>G (p.Val483Gly) c.1493T>G (p.Val498Gly) | |
2 | g.26482537A>G | CA346135694 | OTOF | c.1448T>C (p.Val483Ala) c.1493T>C (p.Val498Ala) | dbSNP |
2 | g.26482537A>T | CA346135696 | OTOF | c.1448T>A (p.Val483Asp) c.1493T>A (p.Val498Asp) | |
2 | g.26482538C>A | CA346135698 | OTOF | c.1447G>T (p.Val483Phe) c.1492G>T (p.Val498Phe) | |
2 | g.26482538C= | CA1239829108 | OTOF | c.1447G= (p.Val483=) c.1492G= (p.Val498=) | |
2 | g.26482538C>G | CA346135701 | OTOF | c.1447G>C (p.Val483Leu) c.1492G>C (p.Val498Leu) | |
2 | g.26482538C>T | CA1564265 | OTOF | c.1447G>A (p.Val483Ile) c.1492G>A (p.Val498Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26482539G>A | CA1564266 | OTOF | c.1446C>T (p.Val482=) c.1491C>T (p.Val497=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.26482539G>C | CA425206683 | OTOF | c.1446C>G (p.Val482=) c.1491C>G (p.Val497=) | |
2 | g.26482539G= | CA1239829111 | OTOF | c.1446C= (p.Val482=) c.1491C= (p.Val497=) | |
2 | g.26482539G>T | CA425206684 | OTOF | c.1446C>A (p.Val482=) c.1491C>A (p.Val497=) | |
2 | g.26482540A>C | CA346135710 | OTOF | c.1445T>G (p.Val482Gly) c.1490T>G (p.Val497Gly) | |
2 | g.26482540A>G | CA346135713 | OTOF | c.1445T>C (p.Val482Ala) c.1490T>C (p.Val497Ala) | |
2 | g.26482540A>T | CA346135715 | OTOF | c.1445T>A (p.Val482Asp) c.1490T>A (p.Val497Asp) | |
2 | g.26482541C>A | CA346135719 | OTOF | c.1444G>T (p.Val482Phe) c.1489G>T (p.Val497Phe) | |
2 | g.26482541C>G | CA346135721 | OTOF | c.1444G>C (p.Val482Leu) c.1489G>C (p.Val497Leu) | |
2 | g.26482541C>T | CA346135723 | OTOF | c.1444G>A (p.Val482Ile) c.1489G>A (p.Val497Ile) | |
2 | g.26482542C>A | CA346135730 | OTOF | c.1443G>T (p.Gln481His) c.1488G>T (p.Gln496His) | |
2 | g.26482542C>G | CA346135727 | OTOF | c.1443G>C (p.Gln481His) c.1488G>C (p.Gln496His) | |
2 | g.26482542C>T | CA425206692 | OTOF | c.1443G>A (p.Gln481=) c.1488G>A (p.Gln496=) | |
2 | g.26482543T>A | CA346135732 | OTOF | c.1442A>T (p.Gln481Leu) c.1487A>T (p.Gln496Leu) | |
2 | g.26482543T>C | CA346135734 | OTOF | c.1442A>G (p.Gln481Arg) c.1487A>G (p.Gln496Arg) | |
2 | g.26482543T>G | CA346135736 | OTOF | c.1442A>C (p.Gln481Pro) c.1487A>C (p.Gln496Pro) | |
2 | g.26482544G>A | CA346135739 | OTOF | c.1441C>T (p.Gln481Ter) c.1486C>T (p.Gln496Ter) | |
2 | g.26482544G>C | CA346135741 | OTOF | c.1441C>G (p.Gln481Glu) c.1486C>G (p.Gln496Glu) | |
2 | g.26482544G>T | CA346135743 | OTOF | c.1441C>A (p.Gln481Lys) c.1486C>A (p.Gln496Lys) | |
2 | g.26482545C>A | CA346135744 | OTOF | c.1440G>T (p.Glu480Asp) c.1485G>T (p.Glu495Asp) | |
2 | g.26482545C>G | CA346135745 | OTOF | c.1440G>C (p.Glu480Asp) c.1485G>C (p.Glu495Asp) | |
2 | g.26482545C>T | CA425206699 | OTOF | c.1440G>A (p.Glu480=) c.1485G>A (p.Glu495=) | |
2 | g.26482546T>A | CA346135748 | OTOF | c.1439A>T (p.Glu480Val) c.1484A>T (p.Glu495Val) | |
2 | g.26482546T>C | CA346135750 | OTOF | c.1439A>G (p.Glu480Gly) c.1484A>G (p.Glu495Gly) | |
2 | g.26482546T>G | CA346135752 | OTOF | c.1439A>C (p.Glu480Ala) c.1484A>C (p.Glu495Ala) | |
2 | g.26482547C>A | CA346135757 | OTOF | c.1438G>T (p.Glu480Ter) c.1483G>T (p.Glu495Ter) | gnomAD v4 |
2 | g.26482547C= | CA1239829114 | OTOF | c.1438G= (p.Glu480=) c.1483G= (p.Glu495=) | |
2 | g.26482547C>G | CA346135759 | OTOF | c.1438G>C (p.Glu480Gln) c.1483G>C (p.Glu495Gln) | |
2 | g.26482547C>T | CA346135761 | OTOF | c.1438G>A (p.Glu480Lys) c.1483G>A (p.Glu495Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26482549_26482555del | CA2658238778 | OTOF | c.1432_1438del (p.Trp478SerfsTer16) c.1477_1483del (p.Trp493SerfsTer16) | gnomAD v4 |
2 | g.26482548A= | CA1239829117 | OTOF | c.1437T= (p.Asn479=) c.1482T= (p.Asn494=) | |
2 | g.26482548A>C | CA346135767 | OTOF | c.1437T>G (p.Asn479Lys) c.1482T>G (p.Asn494Lys) | |
2 | g.26482548A>G | CA1564267 | OTOF | c.1437T>C (p.Asn479=) c.1482T>C (p.Asn494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26482548A>T | CA346135765 | OTOF | c.1437T>A (p.Asn479Lys) c.1482T>A (p.Asn494Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26482549T>A | CA346135775 | OTOF | c.1436A>T (p.Asn479Ile) c.1481A>T (p.Asn494Ile) | |
2 | g.26482549T>C | CA346135773 | OTOF | c.1436A>G (p.Asn479Ser) c.1481A>G (p.Asn494Ser) | |
2 | g.26482549T>G | CA346135777 | OTOF | c.1436A>C (p.Asn479Thr) c.1481A>C (p.Asn494Thr) | |
2 | g.26482550T>A | CA346135785 | OTOF | c.1435A>T (p.Asn479Tyr) c.1480A>T (p.Asn494Tyr) | |
2 | g.26482550T>C | CA346135790 | OTOF | c.1435A>G (p.Asn479Asp) c.1480A>G (p.Asn494Asp) | |
2 | g.26482550T>G | CA346135788 | OTOF | c.1435A>C (p.Asn479His) c.1480A>C (p.Asn494His) | |
2 | g.26482551C>A | CA346135793 | OTOF | c.1434G>T (p.Trp478Cys) c.1479G>T (p.Trp493Cys) | |
2 | g.26482551C>G | CA346135795 | OTOF | c.1434G>C (p.Trp478Cys) c.1479G>C (p.Trp493Cys) | |
2 | g.26482551C>T | CA346135794 | OTOF | c.1434G>A (p.Trp478Ter) c.1479G>A (p.Trp493Ter) | |
2 | g.26482552C>A | CA346135796 | OTOF | c.1433G>T (p.Trp478Leu) c.1478G>T (p.Trp493Leu) | |
2 | g.26482552C>G | CA346135798 | OTOF | c.1433G>C (p.Trp478Ser) c.1478G>C (p.Trp493Ser) | |
2 | g.26482552C>T | CA346135797 | OTOF | c.1433G>A (p.Trp478Ter) c.1478G>A (p.Trp493Ter) | ClinVar |
2 | g.26482553A>C | CA346135799 | OTOF | c.1432T>G (p.Trp478Gly) c.1477T>G (p.Trp493Gly) | |
2 | g.26482553A>G | CA346135800 | OTOF | c.1432T>C (p.Trp478Arg) c.1477T>C (p.Trp493Arg) | ClinVar |
2 | g.26482553A>T | CA346135801 | OTOF | c.1432T>A (p.Trp478Arg) c.1477T>A (p.Trp493Arg) | |
2 | g.26482554C>A | CA425206711 | OTOF | c.1431G>T (p.Leu477=) c.1476G>T (p.Leu492=) | |
2 | g.26482554C= | CA1239829122 | OTOF | c.1431G= (p.Leu477=) c.1476G= (p.Leu492=) | |
2 | g.26482554C>G | CA425206712 | OTOF | c.1431G>C (p.Leu477=) c.1476G>C (p.Leu492=) | |
2 | g.26482554C>T | CA44401609 | OTOF | c.1431G>A (p.Leu477=) c.1476G>A (p.Leu492=) | dbSNP gnomAD v4 |
2 | g.26482555A>C | CA346135802 | OTOF | c.1430T>G (p.Leu477Arg) c.1475T>G (p.Leu492Arg) | |
2 | g.26482555A>G | CA346135803 | OTOF | c.1430T>C (p.Leu477Pro) c.1475T>C (p.Leu492Pro) | |
2 | g.26482555A>T | CA346135804 | OTOF | c.1430T>A (p.Leu477Gln) c.1475T>A (p.Leu492Gln) | |
2 | g.26482556G>A | CA425206714 | OTOF | c.1429C>T (p.Leu477=) c.1474C>T (p.Leu492=) | COSMIC |
2 | g.26482556G>C | CA346135805 | OTOF | c.1429C>G (p.Leu477Val) c.1474C>G (p.Leu492Val) | |
2 | g.26482556G>T | CA346135806 | OTOF | c.1429C>A (p.Leu477Met) c.1474C>A (p.Leu492Met) | |
2 | g.26482557G>A | CA425206715 | OTOF | c.1428C>T (p.Pro476=) c.1473C>T (p.Pro491=) | dbSNP |
2 | g.26482557G>C | CA425206716 | OTOF | c.1428C>G (p.Pro476=) c.1473C>G (p.Pro491=) | ClinVar |
2 | g.26482557G>T | CA425206718 | OTOF | c.1428C>A (p.Pro476=) c.1473C>A (p.Pro491=) | |
2 | g.26482558G>A | CA346135807 | OTOF | c.1427C>T (p.Pro476Leu) c.1472C>T (p.Pro491Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26482558G>C | CA346135809 | OTOF | c.1427C>G (p.Pro476Arg) c.1472C>G (p.Pro491Arg) | |
2 | g.26482558G= | CA1239829125 | OTOF | c.1427C= (p.Pro476=) c.1472C= (p.Pro491=) | |
2 | g.26482558G>T | CA346135815 | OTOF | c.1427C>A (p.Pro476His) c.1472C>A (p.Pro491His) | |
2 | g.26482559G>A | CA1564268 | OTOF | c.1426C>T (p.Pro476Ser) c.1471C>T (p.Pro491Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26482559G>C | CA346135826 | OTOF | c.1426C>G (p.Pro476Ala) c.1471C>G (p.Pro491Ala) | |
2 | g.26482559G= | CA1239829128 | OTOF | c.1426C= (p.Pro476=) c.1471C= (p.Pro491=) | |
2 | g.26482559G>T | CA346135824 | OTOF | c.1426C>A (p.Pro476Thr) c.1471C>A (p.Pro491Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26482560C>A | CA346135830 | OTOF | c.1425G>T (p.Glu475Asp) c.1470G>T (p.Glu490Asp) | |
2 | g.26482560C= | CA1239829132 | OTOF | c.1425G= (p.Glu475=) c.1470G= (p.Glu490=) | |
2 | g.26482560C>G | CA1564270 | OTOF | c.1425G>C (p.Glu475Asp) c.1470G>C (p.Glu490Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26482560C>T | CA1564269 | OTOF | c.1425G>A (p.Glu475=) c.1470G>A (p.Glu490=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26482561T>A | CA346135836 | OTOF | c.1424A>T (p.Glu475Val) c.1469A>T (p.Glu490Val) | |
2 | g.26482561T>C | CA142738 | OTOF | c.1424A>G (p.Glu475Gly) c.1469A>G (p.Glu490Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26482561T>G | CA346135840 | OTOF | c.1424A>C (p.Glu475Ala) c.1469A>C (p.Glu490Ala) | |
2 | g.26482561T= | CA1239829138 | OTOF | c.1424A= (p.Glu475=) c.1469A= (p.Glu490=) | |
2 | g.26482562C>A | CA346135841 | OTOF | c.1423G>T (p.Glu475Ter) c.1468G>T (p.Glu490Ter) | |
2 | g.26482562C>G | CA346135842 | OTOF | c.1423G>C (p.Glu475Gln) c.1468G>C (p.Glu490Gln) | |
2 | g.26482562C>T | CA346135843 | OTOF | c.1423G>A (p.Glu475Lys) c.1468G>A (p.Glu490Lys) | gnomAD v4 |
2 | g.26482563A= | CA1239829146 | OTOF | c.1422T= (p.Tyr474=) c.1467T= (p.Tyr489=) | |
2 | g.26482563A>C | CA346135845 | OTOF | c.1422T>G (p.Tyr474Ter) c.1467T>G (p.Tyr489Ter) | gnomAD v4 |
2 | g.26482563A>G | CA425206814 | OTOF | c.1422T>C (p.Tyr474=) c.1467T>C (p.Tyr489=) | COSMIC |
2 | g.26482563A>T | CA346135844 | OTOF | c.1422T>A (p.Tyr474Ter) c.1467T>A (p.Tyr489Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26482564T>A | CA346135847 | OTOF | c.1421A>T (p.Tyr474Phe) c.1466A>T (p.Tyr489Phe) | |
2 | g.26482564T>C | CA346135849 | OTOF | c.1421A>G (p.Tyr474Cys) c.1466A>G (p.Tyr489Cys) | gnomAD v4 |
2 | g.26482564T>G | CA346135851 | OTOF | c.1421A>C (p.Tyr474Ser) c.1466A>C (p.Tyr489Ser) | |
2 | g.26482565A>C | CA346135854 | OTOF | c.1420T>G (p.Tyr474Asp) c.1465T>G (p.Tyr489Asp) | |
2 | g.26482565A>G | CA346135856 | OTOF | c.1420T>C (p.Tyr474His) c.1465T>C (p.Tyr489His) | |
2 | g.26482565A>T | CA346135858 | OTOF | c.1420T>A (p.Tyr474Asn) c.1465T>A (p.Tyr489Asn) | |
2 | g.26482566G>A | CA425206815 | OTOF | c.1419C>T (p.Ser473=) c.1464C>T (p.Ser488=) | |
2 | g.26482566G>C | CA346135861 | OTOF | c.1419C>G (p.Ser473Arg) c.1464C>G (p.Ser488Arg) | |
2 | g.26482566G>T | CA346135862 | OTOF | c.1419C>A (p.Ser473Arg) c.1464C>A (p.Ser488Arg) | |
2 | g.26482567C>A | CA346135865 | OTOF | c.1418G>T (p.Ser473Ile) c.1463G>T (p.Ser488Ile) | |
2 | g.26482567C>G | CA346135867 | OTOF | c.1418G>C (p.Ser473Thr) c.1463G>C (p.Ser488Thr) | ClinVar gnomAD v4 |
2 | g.26482567C>T | CA346135869 | OTOF | c.1418G>A (p.Ser473Asn) c.1463G>A (p.Ser488Asn) | gnomAD v4 |
2 | g.26482568T>A | CA1564271 | OTOF | c.1417A>T (p.Ser473Cys) c.1462A>T (p.Ser488Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26482568T>C | CA346135872 | OTOF | c.1417A>G (p.Ser473Gly) c.1462A>G (p.Ser488Gly) | |
2 | g.26482568T>G | CA346135874 | OTOF | c.1417A>C (p.Ser473Arg) c.1462A>C (p.Ser488Arg) | |
2 | g.26482568T= | CA1239829149 | OTOF | c.1417A= (p.Ser473=) c.1462A= (p.Ser488=) | |
2 | g.26482569G>A | CA44401633 | OTOF | c.1416C>T (p.Ser472=) c.1461C>T (p.Ser487=) | dbSNP |
2 | g.26482569G>C | CA346135878 | OTOF | c.1416C>G (p.Ser472Arg) c.1461C>G (p.Ser487Arg) | |
2 | g.26482569G= | CA1239829155 | OTOF | c.1416C= (p.Ser472=) c.1461C= (p.Ser487=) | |
2 | g.26482569G>T | CA346135880 | OTOF | c.1416C>A (p.Ser472Arg) c.1461C>A (p.Ser487Arg) | |
2 | g.26482570C>A | CA346135883 | OTOF | c.1415G>T (p.Ser472Ile) c.1460G>T (p.Ser487Ile) | gnomAD v4 |
2 | g.26482570C>G | CA346135885 | OTOF | c.1415G>C (p.Ser472Thr) c.1460G>C (p.Ser487Thr) | |
2 | g.26482570C>T | CA346135886 | OTOF | c.1415G>A (p.Ser472Asn) c.1460G>A (p.Ser487Asn) | |
2 | g.26482571del | CA2658238780 | OTOF | c.1414del (p.Ser472AlafsTer24) c.1459del (p.Ser487AlafsTer24) | gnomAD v4 |
2 | g.26482571T>A | CA346135887 | OTOF | c.1414A>T (p.Ser472Cys) c.1459A>T (p.Ser487Cys) | |
2 | g.26482571T>C | CA346135888 | OTOF | c.1414A>G (p.Ser472Gly) c.1459A>G (p.Ser487Gly) | gnomAD v4 |
2 | g.26482571T>G | CA346135890 | OTOF | c.1414A>C (p.Ser472Arg) c.1459A>C (p.Ser487Arg) | |
2 | g.26482572C>A | CA346135893 | OTOF | c.1413G>T (p.Lys471Asn) c.1458G>T (p.Lys486Asn) | |
2 | g.26482572C= | CA1239829160 | OTOF | c.1413G= (p.Lys471=) c.1458G= (p.Lys486=) | |
2 | g.26482572C>G | CA1564273 | OTOF | c.1413G>C (p.Lys471Asn) c.1458G>C (p.Lys486Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26482572C>T | CA1564272 | OTOF | c.1413G>A (p.Lys471=) c.1458G>A (p.Lys486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26482573T>A | CA346135899 | OTOF | c.1412A>T (p.Lys471Met) c.1457A>T (p.Lys486Met) | |
2 | g.26482573T>C | CA346135901 | OTOF | c.1412A>G (p.Lys471Arg) c.1457A>G (p.Lys486Arg) | COSMIC |
2 | g.26482573T>G | CA346135904 | OTOF | c.1412A>C (p.Lys471Thr) c.1457A>C (p.Lys486Thr) | |
2 | g.26482573T= | CA1239829166 | OTOF | c.1412A= (p.Lys471=) c.1457A= (p.Lys486=) | |
2 | g.26482574T>A | CA346135908 | OTOF | c.1411A>T (p.Lys471Ter) c.1456A>T (p.Lys486Ter) | |
2 | g.26482574T>C | CA346135911 | OTOF | c.1411A>G (p.Lys471Glu) c.1456A>G (p.Lys486Glu) | |
2 | g.26482574T>G | CA346135906 | OTOF | c.1411A>C (p.Lys471Gln) c.1456A>C (p.Lys486Gln) | |
2 | g.26482576_26482577insTGCACTGAAGTCT | CA916496182 | OTOF | c.1411_1412insCTTCAGTGCAAGA (p.Lys471ThrfsTer9) c.1456_1457insCTTCAGTGCAAGA (p.Lys486ThrfsTer9) | dbSNP |
2 | g.26482575C>A | CA346135916 | OTOF | c.1410G>T (p.Gln470His) c.1455G>T (p.Gln485His) | |
2 | g.26482575C= | CA1239829173 | OTOF | c.1410G= (p.Gln470=) c.1455G= (p.Gln485=) | |
2 | g.26482575C>G | CA346135914 | OTOF | c.1410G>C (p.Gln470His) c.1455G>C (p.Gln485His) | dbSNP |
2 | g.26482575C>T | CA425206818 | OTOF | c.1410G>A (p.Gln470=) c.1455G>A (p.Gln485=) | ClinVar dbSNP gnomAD v4 |
2 | g.26482578_26482582del | CA2697547886 | OTOF | c.1406_1410del (p.Val469GlufsTer5) c.1451_1455del (p.Val484GlufsTer5) | ClinVar |
2 | g.26482575_26482588delinsCTGCACTGAAGTCT | CA1239829171 | OTOF | c.1397_1410delinsAGACTTCAGTGCAG (p.Lys466=) c.1442_1455delinsAGACTTCAGTGCAG (p.Lys481=) | |
2 | g.26482576T>A | CA346135920 | OTOF | c.1409A>T (p.Gln470Leu) c.1454A>T (p.Gln485Leu) | |
2 | g.26482576T>C | CA346135922 | OTOF | c.1409A>G (p.Gln470Arg) c.1454A>G (p.Gln485Arg) | gnomAD v4 |
2 | g.26482576T>G | CA1564274 | OTOF | c.1409A>C (p.Gln470Pro) c.1454A>C (p.Gln485Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26482576T= | CA1239829176 | OTOF | c.1409A= (p.Gln470=) c.1454A= (p.Gln485=) | |
2 | g.26482579_26482591del | CA16617523 | OTOF | c.1397_1409del (p.Lys466ArgfsTer26) c.1442_1454del (p.Lys481ArgfsTer26) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26482577G>A | CA346135926 | OTOF | c.1408C>T (p.Gln470Ter) c.1453C>T (p.Gln485Ter) | COSMIC |
2 | g.26482577G>C | CA346135927 | OTOF | c.1408C>G (p.Gln470Glu) c.1453C>G (p.Gln485Glu) | |
2 | g.26482577G>T | CA346135928 | OTOF | c.1408C>A (p.Gln470Lys) c.1453C>A (p.Gln485Lys) | |
2 | g.26482578C>A | CA425206823 | OTOF | c.1407G>T (p.Val469=) c.1452G>T (p.Val484=) | |
2 | g.26482578C>G | CA425206824 | OTOF | c.1407G>C (p.Val469=) c.1452G>C (p.Val484=) | |
2 | g.26482578C>T | CA425206825 | OTOF | c.1407G>A (p.Val469=) c.1452G>A (p.Val484=) | |
2 | g.26482579A>C | CA346135931 | OTOF | c.1406T>G (p.Val469Gly) c.1451T>G (p.Val484Gly) | |
2 | g.26482579A>G | CA346135934 | OTOF | c.1406T>C (p.Val469Ala) c.1451T>C (p.Val484Ala) | |
2 | g.26482579A>T | CA346135936 | OTOF | c.1406T>A (p.Val469Glu) c.1451T>A (p.Val484Glu) | |
2 | g.26482580C>A | CA346135939 | OTOF | c.1405G>T (p.Val469Leu) c.1450G>T (p.Val484Leu) | |
2 | g.26482580C>G | CA346135942 | OTOF | c.1405G>C (p.Val469Leu) c.1450G>C (p.Val484Leu) | |
2 | g.26482580C>T | CA346135945 | OTOF | c.1405G>A (p.Val469Met) c.1450G>A (p.Val484Met) | gnomAD v4 |
2 | g.26482580_26482581del | CA2658238806 | OTOF | c.1404_1405del (p.Val469AlafsTer6) c.1449_1450del (p.Val484AlafsTer6) | gnomAD v4 |
2 | g.26482581T>A | CA425206830 | OTOF | c.1404A>T (p.Ser468=) c.1449A>T (p.Ser483=) | |
2 | g.26482581T>C | CA425206828 | OTOF | c.1404A>G (p.Ser468=) c.1449A>G (p.Ser483=) | |
2 | g.26482581T>G | CA425206829 | OTOF | c.1404A>C (p.Ser468=) c.1449A>C (p.Ser483=) | |
2 | g.26482582G>A | CA346135948 | OTOF | c.1403C>T (p.Ser468Leu) c.1448C>T (p.Ser483Leu) | gnomAD v4 |
2 | g.26482582G>C | CA346135952 | OTOF | c.1403C>G (p.Ser468Ter) c.1448C>G (p.Ser483Ter) | |
2 | g.26482582G>T | CA346135950 | OTOF | c.1403C>A (p.Ser468Ter) c.1448C>A (p.Ser483Ter) | |
2 | g.26482583A>C | CA346135956 | OTOF | c.1402T>G (p.Ser468Ala) c.1447T>G (p.Ser483Ala) | |
2 | g.26482583A>G | CA346135958 | OTOF | c.1402T>C (p.Ser468Pro) c.1447T>C (p.Ser483Pro) | |
2 | g.26482583A>T | CA346135959 | OTOF | c.1402T>A (p.Ser468Thr) c.1447T>A (p.Ser483Thr) | |
2 | g.26482584A>C | CA425206835 | OTOF | c.1401T>G (p.Thr467=) c.1446T>G (p.Thr482=) | gnomAD v4 |
2 | g.26482584A>G | CA425206836 | OTOF | c.1401T>C (p.Thr467=) c.1446T>C (p.Thr482=) | |
2 | g.26482584A>T | CA425206837 | OTOF | c.1401T>A (p.Thr467=) c.1446T>A (p.Thr482=) | |
2 | g.26482585G>A | CA346135960 | OTOF | c.1400C>T (p.Thr467Ile) c.1445C>T (p.Thr482Ile) | |
2 | g.26482585G>C | CA346135961 | OTOF | c.1400C>G (p.Thr467Ser) c.1445C>G (p.Thr482Ser) | |
2 | g.26482585G>T | CA346135963 | OTOF | c.1400C>A (p.Thr467Asn) c.1445C>A (p.Thr482Asn) |