Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.43349267G>A | CA123782 | MPL | c.1473G>A (p.Trp491Ter) c.1452G>A (p.Trp484Ter) n.1473G>A c.5G>A c.1644G>A (p.Trp548Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.43349267G>C | CA339987349 | MPL | c.1473G>C (p.Trp491Cys) c.1452G>C (p.Trp484Cys) n.1473G>C c.5G>C c.1644G>C (p.Trp548Cys) | ClinVar dbSNP |
1 | g.43349267G= | CA1141580749 | MPL | c.1473G= (p.Trp491=) c.1452G= (p.Trp484=) n.1473G= c.5G= c.1644G= (p.Trp548=) | |
1 | g.43349267G>T | CA339987351 | MPL | c.1473G>T (p.Trp491Cys) c.1452G>T (p.Trp484Cys) n.1473G>T c.5G>T c.1644G>T (p.Trp548Cys) | gnomAD v4 |
1 | g.43349268A= | CA1165579909 | MPL | c.1474A= (p.Ile492=) c.1453A= (p.Ile485=) n.1474A= c.6A= c.1645A= (p.Ile549=) | |
1 | g.43349268A>C | CA339987356 | MPL | c.1474A>C (p.Ile492Leu) c.1453A>C (p.Ile485Leu) n.1474A>C c.6A>C c.1645A>C (p.Ile549Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43349268A>G | CA339987358 | MPL | c.1474A>G (p.Ile492Val) c.1453A>G (p.Ile485Val) n.1474A>G c.6A>G c.1645A>G (p.Ile549Val) | |
1 | g.43349268A>T | CA339987370 | MPL | c.1474A>T (p.Ile492Phe) c.1453A>T (p.Ile485Phe) n.1474A>T c.6A>T c.1645A>T (p.Ile549Phe) | dbSNP gnomAD v4 |
1 | g.43349268_43349271dup | CA916081288 | MPL | c.1474_1477dup (p.Ser493TyrfsTer?) c.1453_1456dup (p.Ser486TyrfsTer?) n.1474_1477dup c.6_9dup c.1645_1648dup (p.Ser550TyrfsTer?) | ClinVar dbSNP |
1 | g.43349269T>A | CA339987373 | MPL | c.1475T>A (p.Ile492Asn) c.1454T>A (p.Ile485Asn) n.1475T>A c.7T>A c.1646T>A (p.Ile549Asn) | |
1 | g.43349269T>C | CA339987386 | MPL | c.1475T>C (p.Ile492Thr) c.1454T>C (p.Ile485Thr) n.1475T>C c.7T>C c.1646T>C (p.Ile549Thr) | |
1 | g.43349269T>G | CA339987382 | MPL | c.1475T>G (p.Ile492Ser) c.1454T>G (p.Ile485Ser) n.1475T>G c.7T>G c.1646T>G (p.Ile549Ser) | |
1 | g.43349270C>A | CA417547032 | MPL | c.1476C>A (p.Ile492=) c.1455C>A (p.Ile485=) n.1476C>A c.8C>A c.1647C>A (p.Ile549=) | |
1 | g.43349270C= | CA1165579918 | MPL | c.1476C= (p.Ile492=) c.1455C= (p.Ile485=) n.1476C= c.8C= c.1647C= (p.Ile549=) | |
1 | g.43349270C>G | CA339987392 | MPL | c.1476C>G (p.Ile492Met) c.1455C>G (p.Ile485Met) n.1476C>G c.8C>G c.1647C>G (p.Ile549Met) | dbSNP |
1 | g.43349270C>T | CA417547033 | MPL | c.1476C>T (p.Ile492=) c.1455C>T (p.Ile485=) n.1476C>T c.8C>T c.1647C>T (p.Ile549=) | |
1 | g.43349271T>A | CA339987396 | MPL | c.1477T>A (p.Ser493Thr) c.1456T>A (p.Ser486Thr) n.1477T>A c.9T>A c.1648T>A (p.Ser550Thr) | |
1 | g.43349271T>C | CA339987399 | MPL | c.1477T>C (p.Ser493Pro) c.1456T>C (p.Ser486Pro) n.1477T>C c.9T>C c.1648T>C (p.Ser550Pro) | |
1 | g.43349271T>G | CA339987415 | MPL | c.1477T>G (p.Ser493Ala) c.1456T>G (p.Ser486Ala) n.1477T>G c.9T>G c.1648T>G (p.Ser550Ala) | dbSNP |
1 | g.43349271T= | CA1165579922 | MPL | c.1477T= (p.Ser493=) c.1456T= (p.Ser486=) n.1477T= c.9T= c.1648T= (p.Ser550=) | |
1 | g.43349272C>A | CA339987421 | MPL | c.1478C>A (p.Ser493Tyr) c.1457C>A (p.Ser486Tyr) n.1478C>A c.10C>A c.1649C>A (p.Ser550Tyr) | |
1 | g.43349272C>G | CA339987452 | MPL | c.1478C>G (p.Ser493Cys) c.1457C>G (p.Ser486Cys) n.1478C>G c.10C>G c.1649C>G (p.Ser550Cys) | gnomAD v4 |
1 | g.43349272C>T | CA339987455 | MPL | c.1478C>T (p.Ser493Phe) c.1457C>T (p.Ser486Phe) n.1478C>T c.10C>T c.1649C>T (p.Ser550Phe) | |
1 | g.43349273C>A | CA417547038 | MPL | c.1479C>A (p.Ser493=) c.1458C>A (p.Ser486=) n.1479C>A c.11C>A c.1650C>A (p.Ser550=) | |
1 | g.43349273C>G | CA417547039 | MPL | c.1479C>G (p.Ser493=) c.1458C>G (p.Ser486=) n.1479C>G c.11C>G c.1650C>G (p.Ser550=) | |
1 | g.43349273C>T | CA417547040 | MPL | c.1479C>T (p.Ser493=) c.1458C>T (p.Ser486=) n.1479C>T c.11C>T c.1650C>T (p.Ser550=) | dbSNP gnomAD v4 |
1 | g.43349274T>A | CA339987456 | MPL | c.1480T>A (p.Leu494Met) c.1459T>A (p.Leu487Met) n.1480T>A c.12T>A c.1651T>A (p.Leu551Met) | |
1 | g.43349274T>C | CA417547041 | MPL | c.1480T>C (p.Leu494=) c.1459T>C (p.Leu487=) n.1480T>C c.12T>C c.1651T>C (p.Leu551=) | ClinVar dbSNP |
1 | g.43349274T>G | CA339987457 | MPL | c.1480T>G (p.Leu494Val) c.1459T>G (p.Leu487Val) n.1480T>G c.12T>G c.1651T>G (p.Leu551Val) | |
1 | g.43349274T= | CA1165579926 | MPL | c.1480T= (p.Leu494=) c.1459T= (p.Leu487=) n.1480T= c.12T= c.1651T= (p.Leu551=) | |
1 | g.43349275T>A | CA339987458 | MPL | c.1481T>A (p.Leu494Ter) c.1460T>A (p.Leu487Ter) n.1481T>A c.13T>A c.1652T>A (p.Leu551Ter) | |
1 | g.43349275T>C | CA339987463 | MPL | c.1481T>C (p.Leu494Ser) c.1460T>C (p.Leu487Ser) n.1481T>C c.13T>C c.1652T>C (p.Leu551Ser) | |
1 | g.43349275T>G | CA339987465 | MPL | c.1481T>G (p.Leu494Trp) c.1460T>G (p.Leu487Trp) n.1481T>G c.13T>G c.1652T>G (p.Leu551Trp) | gnomAD v4 |
1 | g.43349276G>A | CA417547045 | MPL | c.1482G>A (p.Leu494=) c.1461G>A (p.Leu487=) n.1482G>A c.14G>A c.1653G>A (p.Leu551=) | |
1 | g.43349276G>C | CA339987467 | MPL | c.1482G>C (p.Leu494Phe) c.1461G>C (p.Leu487Phe) n.1482G>C c.14G>C c.1653G>C (p.Leu551Phe) | |
1 | g.43349276G>T | CA339987466 | MPL | c.1482G>T (p.Leu494Phe) c.1461G>T (p.Leu487Phe) n.1482G>T c.14G>T c.1653G>T (p.Leu551Phe) | |
1 | g.43349277G>A | CA339987472 | MPL | c.1483G>A (p.Val495Met) c.1462G>A (p.Val488Met) n.1483G>A c.15G>A c.1654G>A (p.Val552Met) | gnomAD v4 |
1 | g.43349277G>C | CA339987478 | MPL | c.1483G>C (p.Val495Leu) c.1462G>C (p.Val488Leu) n.1483G>C c.15G>C c.1654G>C (p.Val552Leu) | |
1 | g.43349277G>T | CA339987481 | MPL | c.1483G>T (p.Val495Leu) c.1462G>T (p.Val488Leu) n.1483G>T c.15G>T c.1654G>T (p.Val552Leu) | gnomAD v4 |
1 | g.43349278T>A | CA339987482 | MPL | c.1484T>A (p.Val495Glu) c.1463T>A (p.Val488Glu) n.1484T>A c.16T>A c.1655T>A (p.Val552Glu) | |
1 | g.43349278T>C | CA339987484 | MPL | c.1484T>C (p.Val495Ala) c.1463T>C (p.Val488Ala) n.1484T>C c.16T>C c.1655T>C (p.Val552Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43349278T>G | CA339987489 | MPL | c.1484T>G (p.Val495Gly) c.1463T>G (p.Val488Gly) n.1484T>G c.16T>G c.1655T>G (p.Val552Gly) | |
1 | g.43349278T= | CA1165579931 | MPL | c.1484T= (p.Val495=) c.1463T= (p.Val488=) n.1484T= c.16T= c.1655T= (p.Val552=) | |
1 | g.43349279G>A | CA417547051 | MPL | c.1485G>A (p.Val495=) c.1464G>A (p.Val488=) n.1485G>A c.17G>A c.1656G>A (p.Val552=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43349279G>C | CA417547052 | MPL | c.1485G>C (p.Val495=) c.1464G>C (p.Val488=) n.1485G>C c.17G>C c.1656G>C (p.Val552=) | |
1 | g.43349279G= | CA1165579935 | MPL | c.1485G= (p.Val495=) c.1464G= (p.Val488=) n.1485G= c.17G= c.1656G= (p.Val552=) | |
1 | g.43349279G>T | CA417547053 | MPL | c.1485G>T (p.Val495=) c.1464G>T (p.Val488=) n.1485G>T c.17G>T c.1656G>T (p.Val552=) | gnomAD v4 |
1 | g.43349280A>C | CA339987504 | MPL | c.1486A>C (p.Thr496Pro) c.1465A>C (p.Thr489Pro) n.1486A>C c.18A>C c.1657A>C (p.Thr553Pro) | |
1 | g.43349280A>G | CA339987511 | MPL | c.1486A>G (p.Thr496Ala) c.1465A>G (p.Thr489Ala) n.1486A>G c.18A>G c.1657A>G (p.Thr553Ala) | dbSNP |
1 | g.43349280A>T | CA339987516 | MPL | c.1486A>T (p.Thr496Ser) c.1465A>T (p.Thr489Ser) n.1486A>T c.18A>T c.1657A>T (p.Thr553Ser) | dbSNP |
1 | g.43349281C>A | CA339987517 | MPL | c.1487C>A (p.Thr496Asn) c.1466C>A (p.Thr489Asn) n.1487C>A c.19C>A c.1658C>A (p.Thr553Asn) | |
1 | g.43349281C>G | CA339987518 | MPL | c.1487C>G (p.Thr496Ser) c.1466C>G (p.Thr489Ser) n.1487C>G c.19C>G c.1658C>G (p.Thr553Ser) | dbSNP |
1 | g.43349281C>T | CA339987519 | MPL | c.1487C>T (p.Thr496Ile) c.1466C>T (p.Thr489Ile) n.1487C>T c.19C>T c.1658C>T (p.Thr553Ile) | |
1 | g.43349282C>A | CA417547056 | MPL | c.1488C>A (p.Thr496=) c.1467C>A (p.Thr489=) n.1488C>A c.20C>A c.1659C>A (p.Thr553=) | |
1 | g.43349282C= | CA1141720696 | MPL | c.1488C= (p.Thr496=) c.1467C= (p.Thr489=) n.1488C= c.20C= c.1659C= (p.Thr553=) | |
1 | g.43349282C>G | CA417547057 | MPL | c.1488C>G (p.Thr496=) c.1467C>G (p.Thr489=) n.1488C>G c.20C>G c.1659C>G (p.Thr553=) | |
1 | g.43349282C>T | CA806923 | MPL | c.1488C>T (p.Thr496=) c.1467C>T (p.Thr489=) n.1488C>T c.20C>T c.1659C>T (p.Thr553=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43349283_43349284del | CA2573132317 | MPL | c.1489_1490del (p.Ala497SerfsTer?) c.1468_1469del (p.Ala490SerfsTer?) n.1489_1490del c.21_22del c.1660_1661del (p.Ala554SerfsTer?) | ClinVar dbSNP |
1 | g.43349288_43349289insGTGATCGCTCTG | CA645528773 | MPL | c.1494_1495insGTGATCGCTCTG (p.Leu498_His499insValIleAlaLeu) c.1473_1474insGTGATCGCTCTG (p.Leu491_His492insValIleAlaLeu) n.1494_1495insGTGATCGCTCTG c.26_27insGTGATCGCTCTG c.1665_1666insGTGATCGCTCTG (p.Leu555_His556insValIleAlaLeu) | COSMIC COSMIC |
1 | g.43349283G>A | CA339987533 | MPL | c.1489G>A (p.Ala497Thr) c.1468G>A (p.Ala490Thr) n.1489G>A c.21G>A c.1660G>A (p.Ala554Thr) | dbSNP COSMIC |
1 | g.43349283G>C | CA339987537 | MPL | c.1489G>C (p.Ala497Pro) c.1468G>C (p.Ala490Pro) n.1489G>C c.21G>C c.1660G>C (p.Ala554Pro) | |
1 | g.43349283G>T | CA339987528 | MPL | c.1489G>T (p.Ala497Ser) c.1468G>T (p.Ala490Ser) n.1489G>T c.21G>T c.1660G>T (p.Ala554Ser) | |
1 | g.43349284C>A | CA339987539 | MPL | c.1490C>A (p.Ala497Asp) c.1469C>A (p.Ala490Asp) n.1490C>A c.22C>A c.1661C>A (p.Ala554Asp) | |
1 | g.43349284C>G | CA339987538 | MPL | c.1490C>G (p.Ala497Gly) c.1469C>G (p.Ala490Gly) n.1490C>G c.22C>G c.1661C>G (p.Ala554Gly) | |
1 | g.43349284C>T | CA339987540 | MPL | c.1490C>T (p.Ala497Val) c.1469C>T (p.Ala490Val) n.1490C>T c.22C>T c.1661C>T (p.Ala554Val) | |
1 | g.43349285T>A | CA417547061 | MPL | c.1491T>A (p.Ala497=) c.1470T>A (p.Ala490=) n.1491T>A c.23T>A c.1662T>A (p.Ala554=) | |
1 | g.43349285T>C | CA21612435 | MPL | c.1491T>C (p.Ala497=) c.1470T>C (p.Ala490=) n.1491T>C c.23T>C c.1662T>C (p.Ala554=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.43349285T>G | CA417547062 | MPL | c.1491T>G (p.Ala497=) c.1470T>G (p.Ala490=) n.1491T>G c.23T>G c.1662T>G (p.Ala554=) | |
1 | g.43349285T= | CA1144029939 | MPL | c.1491T= (p.Ala497=) c.1470T= (p.Ala490=) n.1491T= c.23T= c.1662T= (p.Ala554=) | |
1 | g.43349286del | CA2645226569 | MPL | c.1492del (p.Leu498CysfsTer3) c.1471del (p.Leu491CysfsTer3) n.1492del c.24del c.1663del (p.Leu555CysfsTer3) | gnomAD v4 |
1 | g.43349286C>A | CA339987551 | MPL | c.1492C>A (p.Leu498Met) c.1471C>A (p.Leu491Met) n.1492C>A c.24C>A c.1663C>A (p.Leu555Met) | |
1 | g.43349286C>G | CA339987550 | MPL | c.1492C>G (p.Leu498Val) c.1471C>G (p.Leu491Val) n.1492C>G c.24C>G c.1663C>G (p.Leu555Val) | COSMIC COSMIC |
1 | g.43349286C>T | CA417547064 | MPL | c.1492C>T (p.Leu498=) c.1471C>T (p.Leu491=) n.1492C>T c.24C>T c.1663C>T (p.Leu555=) | |
1 | g.43349287T>A | CA339987554 | MPL | c.1493T>A (p.Leu498Gln) c.1472T>A (p.Leu491Gln) n.1493T>A c.25T>A c.1664T>A (p.Leu555Gln) | |
1 | g.43349287T>C | CA339987552 | MPL | c.1493T>C (p.Leu498Pro) c.1472T>C (p.Leu491Pro) n.1493T>C c.25T>C c.1664T>C (p.Leu555Pro) | |
1 | g.43349287T>G | CA339987553 | MPL | c.1493T>G (p.Leu498Arg) c.1472T>G (p.Leu491Arg) n.1493T>G c.25T>G c.1664T>G (p.Leu555Arg) | |
1 | g.43349288G>A | CA417547065 | MPL | c.1494G>A (p.Leu498=) c.1473G>A (p.Leu491=) n.1494G>A c.26G>A c.1665G>A (p.Leu555=) | dbSNP |
1 | g.43349288G>C | CA417547068 | MPL | c.1494G>C (p.Leu498=) c.1473G>C (p.Leu491=) n.1494G>C c.26G>C c.1665G>C (p.Leu555=) | gnomAD v4 |
1 | g.43349288G>T | CA417547070 | MPL | c.1494G>T (p.Leu498=) c.1473G>T (p.Leu491=) n.1494G>T c.26G>T c.1665G>T (p.Leu555=) | gnomAD v4 |
1 | g.43349288_43349289insGG | CA2645226570 | MPL | c.1494_1495insGG (p.His499GlyfsTer3) c.1473_1474insGG (p.His492GlyfsTer3) n.1494_1495insGG c.26_27insGG c.1665_1666insGG (p.His556GlyfsTer3) | gnomAD v4 |
1 | g.43349288_43349289insGT | CA1139769968 | MPL | c.1494_1495insGT (p.His499ValfsTer3) c.1473_1474insGT (p.His492ValfsTer3) n.1494_1495insGT c.26_27insGT c.1665_1666insGT (p.His556ValfsTer3) | |
1 | g.43349289C>A | CA339987559 | MPL | c.1495C>A (p.His499Asn) c.1474C>A (p.His492Asn) n.1495C>A c.27C>A c.1666C>A (p.His556Asn) | gnomAD v4 |
1 | g.43349289C>G | CA339987567 | MPL | c.1495C>G (p.His499Asp) c.1474C>G (p.His492Asp) n.1495C>G c.27C>G c.1666C>G (p.His556Asp) | gnomAD v4 |
1 | g.43349289C>T | CA339987571 | MPL | c.1495C>T (p.His499Tyr) c.1474C>T (p.His492Tyr) n.1495C>T c.27C>T c.1666C>T (p.His556Tyr) | gnomAD v4 |
1 | g.43349289delinsGTG | CA1139533008 | MPL | c.1495delinsGTG (p.His499ValfsTer3) c.1474delinsGTG (p.His492ValfsTer3) n.1495delinsGTG c.27delinsGTG c.1666delinsGTG (p.His556ValfsTer3) | |
1 | g.43349289_43349294delinsGTGATCTCCTTGGTGACG | CA891841754 | MPL | c.1495_1500delinsGTGATCTCCTTGGTGACG (p.His499_Leu500delinsValIleSerLeuValThr) c.1474_1479delinsGTGATCTCCTTGGTGACG (p.His492_Leu493delinsValIleSerLeuValThr) n.1495_1500delinsGTGATCTCCTTGGTGACG c.27_32delinsGTGATCTCCTTGGTGACG c.1666_1671delinsGTGATCTCCTTGGTGACG (p.His556_Leu557delinsValIleSerLeuValThr) | |
1 | g.43349289_43349297delinsGGCCTCAGC | CA2586966598 | MPL | c.1495_1503delinsGGCCTCAGC (p.His499_Val501delinsGlyLeuSer) c.1474_1482delinsGGCCTCAGC (p.His492_Val494delinsGlyLeuSer) n.1495_1503delinsGGCCTCAGC c.27_35delinsGGCCTCAGC c.1666_1674delinsGGCCTCAGC (p.His556_Val558delinsGlyLeuSer) | |
1 | g.43349290A= | CA1165579941 | MPL | c.1496A= (p.His499=) c.1475A= (p.His492=) n.1496A= c.28A= c.1667A= (p.His556=) | |
1 | g.43349290A>C | CA339987574 | MPL | c.1496A>C (p.His499Pro) c.1475A>C (p.His492Pro) n.1496A>C c.28A>C c.1667A>C (p.His556Pro) | gnomAD v4 |
1 | g.43349290A>G | CA339987575 | MPL | c.1496A>G (p.His499Arg) c.1475A>G (p.His492Arg) n.1496A>G c.28A>G c.1667A>G (p.His556Arg) | dbSNP |
1 | g.43349290A>T | CA339987576 | MPL | c.1496A>T (p.His499Leu) c.1475A>T (p.His492Leu) n.1496A>T c.28A>T c.1667A>T (p.His556Leu) | |
1 | g.43349291T>A | CA339987579 | MPL | c.1497T>A (p.His499Gln) c.1476T>A (p.His492Gln) n.1497T>A c.29T>A c.1668T>A (p.His556Gln) | |
1 | g.43349291T>C | CA417547072 | MPL | c.1497T>C (p.His499=) c.1476T>C (p.His492=) n.1497T>C c.29T>C c.1668T>C (p.His556=) | |
1 | g.43349291T>G | CA339987584 | MPL | c.1497T>G (p.His499Gln) c.1476T>G (p.His492Gln) n.1497T>G c.29T>G c.1668T>G (p.His556Gln) | |
1 | g.43349291_43349292insGCTGCTAGTG | CA2645226573 | MPL | c.1497_1498insGCTGCTAGTG (p.Leu500AlafsTer?) c.1476_1477insGCTGCTAGTG (p.Leu493AlafsTer?) n.1497_1498insGCTGCTAGTG c.29_30insGCTGCTAGTG c.1668_1669insGCTGCTAGTG (p.Leu557AlafsTer?) | gnomAD v4 |
1 | g.43349292C>A | CA339987588 | MPL | c.1498C>A (p.Leu500Ile) c.1477C>A (p.Leu493Ile) n.1498C>A c.30C>A c.1669C>A (p.Leu557Ile) | |
1 | g.43349292C>G | CA339987589 | MPL | c.1498C>G (p.Leu500Val) c.1477C>G (p.Leu493Val) n.1498C>G c.30C>G c.1669C>G (p.Leu557Val) | COSMIC |
1 | g.43349292C>T | CA417547076 | MPL | c.1498C>T (p.Leu500=) c.1477C>T (p.Leu493=) n.1498C>T c.30C>T c.1669C>T (p.Leu557=) | |
1 | g.43349292dup | CA2645226574 | MPL | c.1498dup (p.Leu500ProfsTer?) c.1477dup (p.Leu493ProfsTer?) n.1498dup c.30dup c.1669dup (p.Leu557ProfsTer?) | gnomAD v4 |
1 | g.43349292_43349293delinsCT | CA1165579943 | MPL | c.1498_1499delinsCT (p.Leu500=) c.1477_1478delinsCT (p.Leu493=) n.1498_1499delinsCT c.30_31delinsCT c.1669_1670delinsCT (p.Leu557=) | |
1 | g.43349293del | CA913187347 | MPL | c.1499del (p.Leu500GlnfsTer14) c.1478del (p.Leu493GlnfsTer14) n.1499del c.31del c.1670del (p.Leu557GlnfsTer14) | ClinVar dbSNP |
1 | g.43349293T>A | CA339987610 | MPL | c.1499T>A (p.Leu500Gln) c.1478T>A (p.Leu493Gln) n.1499T>A c.31T>A c.1670T>A (p.Leu557Gln) | |
1 | g.43349293T>C | CA339987595 | MPL | c.1499T>C (p.Leu500Pro) c.1478T>C (p.Leu493Pro) n.1499T>C c.31T>C c.1670T>C (p.Leu557Pro) | gnomAD v4 |
1 | g.43349293T>G | CA339987603 | MPL | c.1499T>G (p.Leu500Arg) c.1478T>G (p.Leu493Arg) n.1499T>G c.31T>G c.1670T>G (p.Leu557Arg) | |
1 | g.43349293_43349294insCCTTGGTG | CA1139769970 | MPL | c.1499_1500insCCTTGGTG (p.Val501LeufsTer16) c.1478_1479insCCTTGGTG (p.Val494LeufsTer16) n.1499_1500insCCTTGGTG c.31_32insCCTTGGTG c.1670_1671insCCTTGGTG (p.Val558LeufsTer16) | |
1 | g.43349294A>C | CA417547081 | MPL | c.1500A>C (p.Leu500=) c.1479A>C (p.Leu493=) n.1500A>C c.32A>C c.1671A>C (p.Leu557=) | |
1 | g.43349294A>G | CA417547082 | MPL | c.1500A>G (p.Leu500=) c.1479A>G (p.Leu493=) n.1500A>G c.32A>G c.1671A>G (p.Leu557=) | gnomAD v4 |
1 | g.43349294A>T | CA417547083 | MPL | c.1500A>T (p.Leu500=) c.1479A>T (p.Leu493=) n.1500A>T c.32A>T c.1671A>T (p.Leu557=) | |
1 | g.43349294delinsCCTTGGTGACG | CA1139769969 | MPL | c.1500delinsCCTTGGTGACG (p.Val501LeufsTer?) c.1479delinsCCTTGGTGACG (p.Val494LeufsTer?) n.1500delinsCCTTGGTGACG c.32delinsCCTTGGTGACG c.1671delinsCCTTGGTGACG (p.Val558LeufsTer?) | |
1 | g.43349294_43349295insCG | CA1139769971 | MPL | c.1500_1501insCG (p.Val501ArgfsTer14) c.1479_1480insCG (p.Val494ArgfsTer14) n.1500_1501insCG c.32_33insCG c.1671_1672insCG (p.Val558ArgfsTer14) | |
1 | g.43349295G>A | CA339987612 | MPL | c.1501G>A (p.Val501Met) c.1480G>A (p.Val494Met) n.1501G>A c.33G>A c.1672G>A (p.Val558Met) | dbSNP gnomAD v4 |
1 | g.43349295G>C | CA339987615 | MPL | c.1501G>C (p.Val501Leu) c.1480G>C (p.Val494Leu) n.1501G>C c.33G>C c.1672G>C (p.Val558Leu) | COSMIC |
1 | g.43349295G= | CA1165579952 | MPL | c.1501G= (p.Val501=) c.1480G= (p.Val494=) n.1501G= c.33G= c.1672G= (p.Val558=) | |
1 | g.43349295G>T | CA339987620 | MPL | c.1501G>T (p.Val501Leu) c.1480G>T (p.Val494Leu) n.1501G>T c.33G>T c.1672G>T (p.Val558Leu) | |
1 | g.43349296T>A | CA339987622 | MPL | c.1502T>A (p.Val501Glu) c.1481T>A (p.Val494Glu) n.1502T>A c.34T>A c.1673T>A (p.Val558Glu) | |
1 | g.43349296T>C | CA339987623 | MPL | c.1502T>C (p.Val501Ala) c.1481T>C (p.Val494Ala) n.1502T>C c.34T>C c.1673T>C (p.Val558Ala) | COSMIC |
1 | g.43349296T>G | CA339987624 | MPL | c.1502T>G (p.Val501Gly) c.1481T>G (p.Val494Gly) n.1502T>G c.34T>G c.1673T>G (p.Val558Gly) | |
1 | g.43349297G>A | CA417547088 | MPL | c.1503G>A (p.Val501=) c.1482G>A (p.Val494=) n.1503G>A c.35G>A c.1674G>A (p.Val558=) | gnomAD v4 |
1 | g.43349297G>C | CA417547089 | MPL | c.1503G>C (p.Val501=) c.1482G>C (p.Val494=) n.1503G>C c.35G>C c.1674G>C (p.Val558=) | |
1 | g.43349297G>T | CA417547090 | MPL | c.1503G>T (p.Val501=) c.1482G>T (p.Val494=) n.1503G>T c.35G>T c.1674G>T (p.Val558=) | |
1 | g.43349298C>A | CA339987628 | MPL | c.1504C>A (p.Leu502Met) c.1483C>A (p.Leu495Met) n.1504C>A c.36C>A c.1675C>A (p.Leu559Met) | |
1 | g.43349298C= | CA1165579955 | MPL | c.1504C= (p.Leu502=) c.1483C= (p.Leu495=) n.1504C= c.36C= c.1675C= (p.Leu559=) | |
1 | g.43349298C>G | CA806924 | MPL | c.1504C>G (p.Leu502Val) c.1483C>G (p.Leu495Val) n.1504C>G c.36C>G c.1675C>G (p.Leu559Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43349298C>T | CA417547094 | MPL | c.1504C>T (p.Leu502=) c.1483C>T (p.Leu495=) n.1504C>T c.36C>T c.1675C>T (p.Leu559=) | dbSNP |
1 | g.43349298_43349299delinsGG | CA2586966599 | MPL | c.1504_1505delinsGG (p.Leu502Gly) c.1483_1484delinsGG (p.Leu495Gly) n.1504_1505delinsGG c.36_37delinsGG c.1675_1676delinsGG (p.Leu559Gly) | |
1 | g.43349299T>A | CA339987651 | MPL | c.1505T>A (p.Leu502Gln) c.1484T>A (p.Leu495Gln) n.1505T>A c.37T>A c.1676T>A (p.Leu559Gln) | |
1 | g.43349299T>C | CA339987652 | MPL | c.1505T>C (p.Leu502Pro) c.1484T>C (p.Leu495Pro) n.1505T>C c.37T>C c.1676T>C (p.Leu559Pro) | |
1 | g.43349299T>G | CA806925 | MPL | c.1505T>G (p.Leu502Arg) c.1484T>G (p.Leu495Arg) n.1505T>G c.37T>G c.1676T>G (p.Leu559Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43349299T= | CA1165579959 | MPL | c.1505T= (p.Leu502=) c.1484T= (p.Leu495=) n.1505T= c.37T= c.1676T= (p.Leu559=) | |
1 | g.43349299dup | CA2573051580 | MPL | c.1505dup (p.Leu504ProfsTer?) c.1484dup (p.Leu497ProfsTer?) n.1505dup c.37dup c.1676dup (p.Leu561ProfsTer?) | dbSNP |
1 | g.43349300G>A | CA417547099 | MPL | c.1506G>A (p.Leu502=) c.1485G>A (p.Leu495=) n.1506G>A c.38G>A c.1677G>A (p.Leu559=) | ClinVar |
1 | g.43349300G>C | CA417547100 | MPL | c.1506G>C (p.Leu502=) c.1485G>C (p.Leu495=) n.1506G>C c.38G>C c.1677G>C (p.Leu559=) | |
1 | g.43349300G>T | CA417547102 | MPL | c.1506G>T (p.Leu502=) c.1485G>T (p.Leu495=) n.1506G>T c.38G>T c.1677G>T (p.Leu559=) | |
1 | g.43349302dup | CA2841605005 | MPL | c.1508dup (p.Leu504ProfsTer?) c.1487dup (p.Leu497ProfsTer?) n.1508dup c.40dup c.1679dup (p.Leu561ProfsTer?) | |
1 | g.43349302del | CA2841605006 | MPL | c.1508del (p.Gly503AlafsTer11) c.1487del (p.Gly496AlafsTer11) n.1508del c.40del c.1679del (p.Gly560AlafsTer11) | |
1 | g.43349301G>A | CA339987658 | MPL | c.1507G>A (p.Gly503Ser) c.1486G>A (p.Gly496Ser) n.1507G>A c.39G>A c.1678G>A (p.Gly560Ser) | |
1 | g.43349301G>C | CA339987657 | MPL | c.1507G>C (p.Gly503Arg) c.1486G>C (p.Gly496Arg) n.1507G>C c.39G>C c.1678G>C (p.Gly560Arg) | |
1 | g.43349301G>T | CA339987653 | MPL | c.1507G>T (p.Gly503Cys) c.1486G>T (p.Gly496Cys) n.1507G>T c.39G>T c.1678G>T (p.Gly560Cys) | |
1 | g.43349302G>A | CA339987670 | MPL | c.1508G>A (p.Gly503Asp) c.1487G>A (p.Gly496Asp) n.1508G>A c.40G>A c.1679G>A (p.Gly560Asp) | dbSNP gnomAD v4 |
1 | g.43349302G>C | CA339987673 | MPL | c.1508G>C (p.Gly503Ala) c.1487G>C (p.Gly496Ala) n.1508G>C c.40G>C c.1679G>C (p.Gly560Ala) | |
1 | g.43349302G>T | CA339987680 | MPL | c.1508G>T (p.Gly503Val) c.1487G>T (p.Gly496Val) n.1508G>T c.40G>T c.1679G>T (p.Gly560Val) | |
1 | g.43349303C>A | CA417547107 | MPL | c.1509C>A (p.Gly503=) c.1488C>A (p.Gly496=) n.1509C>A c.41C>A c.1680C>A (p.Gly560=) | |
1 | g.43349303C>G | CA417547109 | MPL | c.1509C>G (p.Gly503=) c.1488C>G (p.Gly496=) n.1509C>G c.41C>G c.1680C>G (p.Gly560=) | |
1 | g.43349303C>T | CA417547111 | MPL | c.1509C>T (p.Gly503=) c.1488C>T (p.Gly496=) n.1509C>T c.41C>T c.1680C>T (p.Gly560=) | |
1 | g.43349304C>A | CA339987689 | MPL | c.1510C>A (p.Leu504Ile) c.1489C>A (p.Leu497Ile) n.1510C>A c.42C>A c.1681C>A (p.Leu561Ile) | |
1 | g.43349304C>G | CA339987694 | MPL | c.1510C>G (p.Leu504Val) c.1489C>G (p.Leu497Val) n.1510C>G c.42C>G c.1681C>G (p.Leu561Val) | |
1 | g.43349304C>T | CA339987702 | MPL | c.1510C>T (p.Leu504Phe) c.1489C>T (p.Leu497Phe) n.1510C>T c.42C>T c.1681C>T (p.Leu561Phe) | |
1 | g.43349305T>A | CA339987722 | MPL | c.1511T>A (p.Leu504His) c.1490T>A (p.Leu497His) n.1511T>A c.43T>A c.1682T>A (p.Leu561His) | |
1 | g.43349305T>C | CA339987726 | MPL | c.1511T>C (p.Leu504Pro) c.1490T>C (p.Leu497Pro) n.1511T>C c.43T>C c.1682T>C (p.Leu561Pro) | dbSNP |
1 | g.43349305T>G | CA339987727 | MPL | c.1511T>G (p.Leu504Arg) c.1490T>G (p.Leu497Arg) n.1511T>G c.43T>G c.1682T>G (p.Leu561Arg) | |
1 | g.43349305_43349306insG | CA891841755 | MPL | c.1511_1512insG (p.Ser505GlnfsTer?) c.1490_1491insG (p.Ser498GlnfsTer?) n.1511_1512insG c.43_44insG c.1682_1683insG (p.Ser562GlnfsTer?) | |
1 | g.43349306C>A | CA417547119 | MPL | c.1512C>A (p.Leu504=) c.1491C>A (p.Leu497=) n.1512C>A c.44C>A c.1683C>A (p.Leu561=) | |
1 | g.43349306C>G | CA417547120 | MPL | c.1512C>G (p.Leu504=) c.1491C>G (p.Leu497=) n.1512C>G c.44C>G c.1683C>G (p.Leu561=) | |
1 | g.43349306C>T | CA417547121 | MPL | c.1512C>T (p.Leu504=) c.1491C>T (p.Leu497=) n.1512C>T c.44C>T c.1683C>T (p.Leu561=) | gnomAD v4 |
1 | g.43349307A= | CA1165579968 | MPL | c.1513A= (p.Ser505=) c.1492A= (p.Ser498=) n.1513A= c.45A= c.1684A= (p.Ser562=) | |
1 | g.43349307A>C | CA339987733 | MPL | c.1513A>C (p.Ser505Arg) c.1492A>C (p.Ser498Arg) n.1513A>C c.45A>C c.1684A>C (p.Ser562Arg) | ClinVar dbSNP |
1 | g.43349307A>G | CA339987744 | MPL | c.1513A>G (p.Ser505Gly) c.1492A>G (p.Ser498Gly) n.1513A>G c.45A>G c.1684A>G (p.Ser562Gly) | dbSNP gnomAD v2 |
1 | g.43349307A>T | CA16602498 | MPL | c.1513A>T (p.Ser505Cys) c.1492A>T (p.Ser498Cys) n.1513A>T c.45A>T c.1684A>T (p.Ser562Cys) | ClinVar dbSNP COSMIC |
1 | g.43349308G>A | CA123790 | MPL | c.1514G>A (p.Ser505Asn) c.1493G>A (p.Ser498Asn) n.1514G>A c.46G>A c.1685G>A (p.Ser562Asn) | ClinVar dbSNP COSMIC COSMIC |
1 | g.43349308G>C | CA339987752 | MPL | c.1514G>C (p.Ser505Thr) c.1493G>C (p.Ser498Thr) n.1514G>C c.46G>C c.1685G>C (p.Ser562Thr) | |
1 | g.43349308G= | CA1141580750 | MPL | c.1514G= (p.Ser505=) c.1493G= (p.Ser498=) n.1514G= c.46G= c.1685G= (p.Ser562=) | |
1 | g.43349308G>T | CA339987749 | MPL | c.1514G>T (p.Ser505Ile) c.1493G>T (p.Ser498Ile) n.1514G>T c.46G>T c.1685G>T (p.Ser562Ile) | gnomAD v4 |
1 | g.43349308_43349311delinsACGT | CA2573335035 | MPL | c.1514_1517delinsACGT (p.Ser505_Ala506delinsAsnVal) c.1493_1496delinsACGT (p.Ser498_Ala499delinsAsnVal) n.1514_1517delinsACGT c.46_49delinsACGT c.1685_1688delinsACGT (p.Ser562_Ala563delinsAsnVal) | |
1 | g.43349310_43349328del | CA2645226576 | MPL | c.1516_1534del (p.Ala506CysfsTer2) c.1495_1513del (p.Ala499CysfsTer2) n.1516_1534del c.48_66del c.1687_1705del (p.Ala563CysfsTer2) | gnomAD v4 |
1 | g.43349309C>A | CA339987755 | MPL | c.1515C>A (p.Ser505Arg) c.1494C>A (p.Ser498Arg) n.1515C>A c.47C>A c.1686C>A (p.Ser562Arg) | |
1 | g.43349309C>G | CA339987760 | MPL | c.1515C>G (p.Ser505Arg) c.1494C>G (p.Ser498Arg) n.1515C>G c.47C>G c.1686C>G (p.Ser562Arg) | |
1 | g.43349309C>T | CA417547132 | MPL | c.1515C>T (p.Ser505=) c.1494C>T (p.Ser498=) n.1515C>T c.47C>T c.1686C>T (p.Ser562=) | dbSNP |
1 | g.43349310G>A | CA806926 | MPL | c.1516G>A (p.Ala506Thr) c.1495G>A (p.Ala499Thr) n.1516G>A c.48G>A c.1687G>A (p.Ala563Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.43349310G>C | CA339987779 | MPL | c.1516G>C (p.Ala506Pro) c.1495G>C (p.Ala499Pro) n.1516G>C c.48G>C c.1687G>C (p.Ala563Pro) | |
1 | g.43349310G= | CA1165579987 | MPL | c.1516G= (p.Ala506=) c.1495G= (p.Ala499=) n.1516G= c.48G= c.1687G= (p.Ala563=) | |
1 | g.43349310G>T | CA339987781 | MPL | c.1516G>T (p.Ala506Ser) c.1495G>T (p.Ala499Ser) n.1516G>T c.48G>T c.1687G>T (p.Ala563Ser) | |
1 | g.43349311C>A | CA339987793 | MPL | c.1517C>A (p.Ala506Asp) c.1496C>A (p.Ala499Asp) n.1517C>A c.49C>A c.1688C>A (p.Ala563Asp) | |
1 | g.43349311C>G | CA339987802 | MPL | c.1517C>G (p.Ala506Gly) c.1496C>G (p.Ala499Gly) n.1517C>G c.49C>G c.1688C>G (p.Ala563Gly) | |
1 | g.43349311C>T | CA339987807 | MPL | c.1517C>T (p.Ala506Val) c.1496C>T (p.Ala499Val) n.1517C>T c.49C>T c.1688C>T (p.Ala563Val) | gnomAD v4 |
1 | g.43349312C>A | CA417547138 | MPL | c.1518C>A (p.Ala506=) c.1497C>A (p.Ala499=) n.1518C>A c.50C>A c.1689C>A (p.Ala563=) | dbSNP |
1 | g.43349312C= | CA1165579989 | MPL | c.1518C= (p.Ala506=) c.1497C= (p.Ala499=) n.1518C= c.50C= c.1689C= (p.Ala563=) | |
1 | g.43349312C>G | CA417547139 | MPL | c.1518C>G (p.Ala506=) c.1497C>G (p.Ala499=) n.1518C>G c.50C>G c.1689C>G (p.Ala563=) | |
1 | g.43349312C>T | CA806927 | MPL | c.1518C>T (p.Ala506=) c.1497C>T (p.Ala499=) n.1518C>T c.50C>T c.1689C>T (p.Ala563=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43349313G>A | CA21612462 | MPL | c.1519G>A (p.Val507Ile) c.1498G>A (p.Val500Ile) n.1519G>A c.51G>A c.1690G>A (p.Val564Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.43349313G>C | CA339987824 | MPL | c.1519G>C (p.Val507Leu) c.1498G>C (p.Val500Leu) n.1519G>C c.51G>C c.1690G>C (p.Val564Leu) | dbSNP |
1 | g.43349313G= | CA1165579994 | MPL | c.1519G= (p.Val507=) c.1498G= (p.Val500=) n.1519G= c.51G= c.1690G= (p.Val564=) | |
1 | g.43349313G>T | CA339987825 | MPL | c.1519G>T (p.Val507Phe) c.1498G>T (p.Val500Phe) n.1519G>T c.51G>T c.1690G>T (p.Val564Phe) | |
1 | g.43349314T>A | CA339987835 | MPL | c.1520T>A (p.Val507Asp) c.1499T>A (p.Val500Asp) n.1520T>A c.52T>A c.1691T>A (p.Val564Asp) | |
1 | g.43349314T>C | CA339987833 | MPL | c.1520T>C (p.Val507Ala) c.1499T>C (p.Val500Ala) n.1520T>C c.52T>C c.1691T>C (p.Val564Ala) | |
1 | g.43349314T>G | CA339987831 | MPL | c.1520T>G (p.Val507Gly) c.1499T>G (p.Val500Gly) n.1520T>G c.52T>G c.1691T>G (p.Val564Gly) | |
1 | g.43349314dup | CA2838437625 | MPL | c.1520dup (p.Leu508ProfsTer?) c.1499dup (p.Leu501ProfsTer?) n.1520dup c.52dup c.1691dup (p.Leu565ProfsTer?) | |
1 | g.43349315C>A | CA417547144 | MPL | c.1521C>A (p.Val507=) c.1500C>A (p.Val500=) n.1521C>A c.53C>A c.1692C>A (p.Val564=) | |
1 | g.43349315C= | CA1165579998 | MPL | c.1521C= (p.Val507=) c.1500C= (p.Val500=) n.1521C= c.53C= c.1692C= (p.Val564=) | |
1 | g.43349315C>G | CA417547145 | MPL | c.1521C>G (p.Val507=) c.1500C>G (p.Val500=) n.1521C>G c.53C>G c.1692C>G (p.Val564=) | |
1 | g.43349315C>T | CA806928 | MPL | c.1521C>T (p.Val507=) c.1500C>T (p.Val500=) n.1521C>T c.53C>T c.1692C>T (p.Val564=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43349316C>A | CA339987854 | MPL | c.1522C>A (p.Leu508Met) c.1501C>A (p.Leu501Met) n.1522C>A c.54C>A c.1693C>A (p.Leu565Met) | dbSNP |
1 | g.43349316C>G | CA339987852 | MPL | c.1522C>G (p.Leu508Val) c.1501C>G (p.Leu501Val) n.1522C>G c.54C>G c.1693C>G (p.Leu565Val) | |
1 | g.43349316C>T | CA417547148 | MPL | c.1522C>T (p.Leu508=) c.1501C>T (p.Leu501=) n.1522C>T c.54C>T c.1693C>T (p.Leu565=) | |
1 | g.43349317T>A | CA339987855 | MPL | c.1523T>A (p.Leu508Gln) c.1502T>A (p.Leu501Gln) n.1523T>A c.55T>A c.1694T>A (p.Leu565Gln) | |
1 | g.43349317T>C | CA339987856 | MPL | c.1523T>C (p.Leu508Pro) c.1502T>C (p.Leu501Pro) n.1523T>C c.55T>C c.1694T>C (p.Leu565Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43349317T>G | CA339987859 | MPL | c.1523T>G (p.Leu508Arg) c.1502T>G (p.Leu501Arg) n.1523T>G c.55T>G c.1694T>G (p.Leu565Arg) | |
1 | g.43349317T= | CA1165580005 | MPL | c.1523T= (p.Leu508=) c.1502T= (p.Leu501=) n.1523T= c.55T= c.1694T= (p.Leu565=) | |
1 | g.43349317dup | CA2740090671 | MPL | c.1523dup (p.Leu510ProfsTer?) c.1502dup (p.Leu503ProfsTer?) n.1523dup c.55dup c.1694dup (p.Leu567ProfsTer?) | ClinVar |
1 | g.43349318G>A | CA417547149 | MPL | c.1524G>A (p.Leu508=) c.1503G>A (p.Leu501=) n.1524G>A c.56G>A c.1695G>A (p.Leu565=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43349318G>C | CA417547152 | MPL | c.1524G>C (p.Leu508=) c.1503G>C (p.Leu501=) n.1524G>C c.56G>C c.1695G>C (p.Leu565=) | |
1 | g.43349318G= | CA1165580007 | MPL | c.1524G= (p.Leu508=) c.1503G= (p.Leu501=) n.1524G= c.56G= c.1695G= (p.Leu565=) | |
1 | g.43349318G>T | CA417547154 | MPL | c.1524G>T (p.Leu508=) c.1503G>T (p.Leu501=) n.1524G>T c.56G>T c.1695G>T (p.Leu565=) | COSMIC COSMIC |
1 | g.43349320dup | CA2841605007 | MPL | c.1526dup (p.Leu510ProfsTer?) c.1505dup (p.Leu503ProfsTer?) n.1526dup c.58dup c.1697dup (p.Leu567ProfsTer?) | |
1 | g.43349320del | CA2645226577 | MPL | c.1526del (p.Gly509AlafsTer5) c.1505del (p.Gly502AlafsTer5) n.1526del c.58del c.1697del (p.Gly566AlafsTer5) | gnomAD v4 |
1 | g.43349319G>A | CA339987866 | MPL | c.1525G>A (p.Gly509Ser) c.1504G>A (p.Gly502Ser) n.1525G>A c.57G>A c.1696G>A (p.Gly566Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43349319G>C | CA339987879 | MPL | c.1525G>C (p.Gly509Arg) c.1504G>C (p.Gly502Arg) n.1525G>C c.57G>C c.1696G>C (p.Gly566Arg) | gnomAD v4 |
1 | g.43349319G= | CA1165580011 | MPL | c.1525G= (p.Gly509=) c.1504G= (p.Gly502=) n.1525G= c.57G= c.1696G= (p.Gly566=) | |
1 | g.43349319G>T | CA339987892 | MPL | c.1525G>T (p.Gly509Cys) c.1504G>T (p.Gly502Cys) n.1525G>T c.57G>T c.1696G>T (p.Gly566Cys) | COSMIC |
1 | g.43349320G>A | CA339987893 | MPL | c.1526G>A (p.Gly509Asp) c.1505G>A (p.Gly502Asp) n.1526G>A c.58G>A c.1697G>A (p.Gly566Asp) | gnomAD v4 |
1 | g.43349320G>C | CA339987894 | MPL | c.1526G>C (p.Gly509Ala) c.1505G>C (p.Gly502Ala) n.1526G>C c.58G>C c.1697G>C (p.Gly566Ala) | |
1 | g.43349320G= | CA1165580015 | MPL | c.1526G= (p.Gly509=) c.1505G= (p.Gly502=) n.1526G= c.58G= c.1697G= (p.Gly566=) | |
1 | g.43349320G>T | CA339987895 | MPL | c.1526G>T (p.Gly509Val) c.1505G>T (p.Gly502Val) n.1526G>T c.58G>T c.1697G>T (p.Gly566Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43349321C>A | CA417547162 | MPL | c.1527C>A (p.Gly509=) c.1506C>A (p.Gly502=) n.1527C>A c.59C>A c.1698C>A (p.Gly566=) | ClinVar dbSNP gnomAD v4 |
1 | g.43349321C= | CA1165580020 | MPL | c.1527C= (p.Gly509=) c.1506C= (p.Gly502=) n.1527C= c.59C= c.1698C= (p.Gly566=) | |
1 | g.43349321C>G | CA417547164 | MPL | c.1527C>G (p.Gly509=) c.1506C>G (p.Gly502=) n.1527C>G c.59C>G c.1698C>G (p.Gly566=) | |
1 | g.43349321C>T | CA417547166 | MPL | c.1527C>T (p.Gly509=) c.1506C>T (p.Gly502=) n.1527C>T c.59C>T c.1698C>T (p.Gly566=) | ClinVar |
1 | g.43349321_43349324delinsCCTG | CA1165580018 | MPL | c.1527_1530delinsCCTG (p.Gly509=) c.1506_1509delinsCCTG (p.Gly502=) n.1527_1530delinsCCTG c.59_62delinsCCTG c.1698_1701delinsCCTG (p.Gly566=) | |
1 | g.43349322C>A | CA339987911 | MPL | c.1528C>A (p.Leu510Met) c.1507C>A (p.Leu503Met) n.1528C>A c.60C>A c.1699C>A (p.Leu567Met) | |
1 | g.43349322C>G | CA339987919 | MPL | c.1528C>G (p.Leu510Val) c.1507C>G (p.Leu503Val) n.1528C>G c.60C>G c.1699C>G (p.Leu567Val) | gnomAD v4 |
1 | g.43349322C>T | CA417547170 | MPL | c.1528C>T (p.Leu510=) c.1507C>T (p.Leu503=) n.1528C>T c.60C>T c.1699C>T (p.Leu567=) | |
1 | g.43349331_43349333dup | CA2580611166 | MPL | c.1537_1539dup (p.Leu513_Arg514insLeu) c.1516_1518dup (p.Leu506_Arg507insLeu) n.1537_1539dup c.69_71dup c.1708_1710dup (p.Leu570_Arg571insLeu) | ClinVar |
1 | g.43349331_43349333del | CA522805855 | MPL | c.1537_1539del (p.Leu513del) c.1516_1518del (p.Leu506del) n.1537_1539del c.69_71del c.1708_1710del (p.Leu570del) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.43349323T>A | CA339987961 | MPL | c.1529T>A (p.Leu510Gln) c.1508T>A (p.Leu503Gln) n.1529T>A c.61T>A c.1700T>A (p.Leu567Gln) | |
1 | g.43349323T>C | CA339987936 | MPL | c.1529T>C (p.Leu510Pro) c.1508T>C (p.Leu503Pro) n.1529T>C c.61T>C c.1700T>C (p.Leu567Pro) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.43349323T>G | CA339987954 | MPL | c.1529T>G (p.Leu510Arg) c.1508T>G (p.Leu503Arg) n.1529T>G c.61T>G c.1700T>G (p.Leu567Arg) | |
1 | g.43349323T= | CA1165580023 | MPL | c.1529T= (p.Leu510=) c.1508T= (p.Leu503=) n.1529T= c.61T= c.1700T= (p.Leu567=) | |
1 | g.43349324G>A | CA417547172 | MPL | c.1530G>A (p.Leu510=) c.1509G>A (p.Leu503=) n.1530G>A c.62G>A c.1701G>A (p.Leu567=) | dbSNP gnomAD v4 |
1 | g.43349324G>C | CA417547174 | MPL | c.1530G>C (p.Leu510=) c.1509G>C (p.Leu503=) n.1530G>C c.62G>C c.1701G>C (p.Leu567=) | dbSNP |
1 | g.43349324G= | CA1165580025 | MPL | c.1530G= (p.Leu510=) c.1509G= (p.Leu503=) n.1530G= c.62G= c.1701G= (p.Leu567=) | |
1 | g.43349324G>T | CA417547177 | MPL | c.1530G>T (p.Leu510=) c.1509G>T (p.Leu503=) n.1530G>T c.62G>T c.1701G>T (p.Leu567=) | |
1 | g.43349325C>A | CA339987973 | MPL | c.1531C>A (p.Leu511Met) c.1510C>A (p.Leu504Met) n.1531C>A c.63C>A c.1702C>A (p.Leu568Met) | |
1 | g.43349325C>G | CA339987976 | MPL | c.1531C>G (p.Leu511Val) c.1510C>G (p.Leu504Val) n.1531C>G c.63C>G c.1702C>G (p.Leu568Val) | |
1 | g.43349325C>T | CA417547178 | MPL | c.1531C>T (p.Leu511=) c.1510C>T (p.Leu504=) n.1531C>T c.63C>T c.1702C>T (p.Leu568=) | dbSNP |
1 | g.43349325_43349329delinsCTGCT | CA1165580027 | MPL | c.1531_1535delinsCTGCT (p.Leu511=) c.1510_1514delinsCTGCT (p.Leu504=) n.1531_1535delinsCTGCT c.63_67delinsCTGCT c.1702_1706delinsCTGCT (p.Leu568=) | |
1 | g.43349326T>A | CA339987977 | MPL | c.1532T>A (p.Leu511Gln) c.1511T>A (p.Leu504Gln) n.1532T>A c.64T>A c.1703T>A (p.Leu568Gln) | |
1 | g.43349326T>C | CA339987978 | MPL | c.1532T>C (p.Leu511Pro) c.1511T>C (p.Leu504Pro) n.1532T>C c.64T>C c.1703T>C (p.Leu568Pro) | |
1 | g.43349326T>G | CA339987985 | MPL | c.1532T>G (p.Leu511Arg) c.1511T>G (p.Leu504Arg) n.1532T>G c.64T>G c.1703T>G (p.Leu568Arg) | |
1 | g.43349326_43349329del | CA522805856 | MPL | c.1532_1535del (p.Leu511ArgfsTer2) c.1511_1514del (p.Leu504ArgfsTer2) n.1532_1535del c.64_67del c.1703_1706del (p.Leu568ArgfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.43349327G>A | CA417547182 | MPL | c.1533G>A (p.Leu511=) c.1512G>A (p.Leu504=) n.1533G>A c.65G>A c.1704G>A (p.Leu568=) | dbSNP gnomAD v4 |
1 | g.43349327G>C | CA417547183 | MPL | c.1533G>C (p.Leu511=) c.1512G>C (p.Leu504=) n.1533G>C c.65G>C c.1704G>C (p.Leu568=) | |
1 | g.43349327G>T | CA417547185 | MPL | c.1533G>T (p.Leu511=) c.1512G>T (p.Leu504=) n.1533G>T c.65G>T c.1704G>T (p.Leu568=) | |
1 | g.43349328C>A | CA339987990 | MPL | c.1534C>A (p.Leu512Met) c.1513C>A (p.Leu505Met) n.1534C>A c.66C>A c.1705C>A (p.Leu569Met) | dbSNP |
1 | g.43349328C>G | CA339987993 | MPL | c.1534C>G (p.Leu512Val) c.1513C>G (p.Leu505Val) n.1534C>G c.66C>G c.1705C>G (p.Leu569Val) | |
1 | g.43349328C>T | CA417547189 | MPL | c.1534C>T (p.Leu512=) c.1513C>T (p.Leu505=) n.1534C>T c.66C>T c.1705C>T (p.Leu569=) | gnomAD v4 |
1 | g.43349329T>A | CA339988001 | MPL | c.1535T>A (p.Leu512Gln) c.1514T>A (p.Leu505Gln) n.1535T>A c.67T>A c.1706T>A (p.Leu569Gln) | |
1 | g.43349329T>C | CA339988005 | MPL | c.1535T>C (p.Leu512Pro) c.1514T>C (p.Leu505Pro) n.1535T>C c.67T>C c.1706T>C (p.Leu569Pro) | |
1 | g.43349329T>G | CA339988009 | MPL | c.1535T>G (p.Leu512Arg) c.1514T>G (p.Leu505Arg) n.1535T>G c.67T>G c.1706T>G (p.Leu569Arg) | |
1 | g.43349330G>A | CA806929 | MPL | c.1536G>A (p.Leu512=) c.1515G>A (p.Leu505=) n.1536G>A c.68G>A c.1707G>A (p.Leu569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43349330G>C | CA417547194 | MPL | c.1536G>C (p.Leu512=) c.1515G>C (p.Leu505=) n.1536G>C c.68G>C c.1707G>C (p.Leu569=) | |
1 | g.43349330G= | CA1141589670 | MPL | c.1536G= (p.Leu512=) c.1515G= (p.Leu505=) n.1536G= c.68G= c.1707G= (p.Leu569=) | |
1 | g.43349330G>T | CA417547195 | MPL | c.1536G>T (p.Leu512=) c.1515G>T (p.Leu505=) n.1536G>T c.68G>T c.1707G>T (p.Leu569=) | |
1 | g.43349330_43349333del | CA2645226578 | MPL | c.1536_1539del (p.Leu513GlyfsTer11) c.1515_1518del (p.Leu506GlyfsTer11) n.1536_1539del c.68_71del c.1536_1539del (p.Leu513GlyfsTer28) c.1536_1539del (p.Leu513GlyfsTer?) c.1707_1710del (p.Leu570GlyfsTer11) | gnomAD v4 |
1 | g.43349331C>A | CA339988026 | MPL | c.1537C>A (p.Leu513Met) c.1516C>A (p.Leu506Met) n.1537C>A c.69C>A c.1708C>A (p.Leu570Met) | |
1 | g.43349331C>G | CA339988021 | MPL | c.1537C>G (p.Leu513Val) c.1516C>G (p.Leu506Val) n.1537C>G c.69C>G c.1708C>G (p.Leu570Val) | |
1 | g.43349331C>T | CA417547196 | MPL | c.1537C>T (p.Leu513=) c.1516C>T (p.Leu506=) n.1537C>T c.69C>T c.1708C>T (p.Leu570=) | dbSNP gnomAD v4 |
1 | g.43349333_43349334insCTGAGCTGCCTG | CA645528774 | MPL | c.1539_1540insCTGAGCTGCCTG (p.Leu513_Arg514insLeuSerCysLeu) c.1518_1519insCTGAGCTGCCTG (p.Leu506_Arg507insLeuSerCysLeu) n.1539_1540insCTGAGCTGCCTG c.71_72insCTGAGCTGCCTG c.1710_1711insCTGAGCTGCCTG (p.Leu570_Arg571insLeuSerCysLeu) | COSMIC |
1 | g.43349332T>A | CA339988034 | MPL | c.1538T>A (p.Leu513Gln) c.1517T>A (p.Leu506Gln) n.1538T>A c.70T>A c.1709T>A (p.Leu570Gln) | |
1 | g.43349332T>C | CA339988036 | MPL | c.1538T>C (p.Leu513Pro) c.1517T>C (p.Leu506Pro) n.1538T>C c.70T>C c.1709T>C (p.Leu570Pro) | |
1 | g.43349332T>G | CA339988040 | MPL | c.1538T>G (p.Leu513Arg) c.1517T>G (p.Leu506Arg) n.1538T>G c.70T>G c.1709T>G (p.Leu570Arg) | |
1 | g.43349333G>A | CA417547199 | MPL | c.1539G>A (p.Leu513=) c.1518G>A (p.Leu506=) n.1539G>A c.71G>A c.1710G>A (p.Leu570=) | dbSNP |
1 | g.43349333G>C | CA417547200 | MPL | c.1539G>C (p.Leu513=) c.1518G>C (p.Leu506=) n.1539G>C c.71G>C c.1710G>C (p.Leu570=) | gnomAD v4 |
1 | g.43349333G>T | CA417547201 | MPL | c.1539G>T (p.Leu513=) c.1518G>T (p.Leu506=) n.1539G>T c.71G>T c.1710G>T (p.Leu570=) | |
1 | g.43349334A>C | CA417547202 | MPL | c.1540A>C (p.Arg514=) c.1519A>C (p.Arg507=) n.1540A>C c.72A>C c.1711A>C (p.Arg571=) | |
1 | g.43349334A>G | CA339988044 | MPL | c.1540A>G (p.Arg514Gly) c.1519A>G (p.Arg507Gly) n.1540A>G c.72A>G c.1711A>G (p.Arg571Gly) | dbSNP |
1 | g.43349334A>T | CA339988046 | MPL | c.1540A>T (p.Arg514Trp) c.1519A>T (p.Arg507Trp) n.1540A>T c.72A>T c.1711A>T (p.Arg571Trp) | dbSNP |
1 | g.43349335G>A | CA339988048 | MPL | c.1541G>A (p.Arg514Lys) c.1520G>A (p.Arg507Lys) n.1541G>A c.73G>A c.1712G>A (p.Arg571Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.43349335G>C | CA339988049 | MPL | c.1541G>C (p.Arg514Thr) c.1520G>C (p.Arg507Thr) n.1541G>C c.73G>C c.1712G>C (p.Arg571Thr) | |
1 | g.43349335G= | CA1165580034 | MPL | c.1541G= (p.Arg514=) c.1520G= (p.Arg507=) n.1541G= c.73G= c.1712G= (p.Arg571=) | |
1 | g.43349335G>T | CA339988050 | MPL | c.1541G>T (p.Arg514Met) c.1520G>T (p.Arg507Met) n.1541G>T c.73G>T c.1712G>T (p.Arg571Met) | gnomAD v4 COSMIC COSMIC |
1 | g.43349336G>A | CA806930 | MPL | c.1542G>A (p.Arg514=) c.1521G>A (p.Arg507=) n.1542G>A c.74G>A c.1713G>A (p.Arg571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43349336G>C | CA339988054 | MPL | c.1542G>C (p.Arg514Ser) c.1521G>C (p.Arg507Ser) n.1542G>C c.74G>C c.1713G>C (p.Arg571Ser) | |
1 | g.43349336G= | CA1143565557 | MPL | c.1542G= (p.Arg514=) c.1521G= (p.Arg507=) n.1542G= c.74G= c.1713G= (p.Arg571=) | |
1 | g.43349336G>T | CA339988055 | MPL | c.1542G>T (p.Arg514Ser) c.1521G>T (p.Arg507Ser) n.1542G>T c.74G>T c.1713G>T (p.Arg571Ser) | ClinVar |
1 | g.43349336_43349338delinsAGC | CA645528775 | MPL | c.1542_1544delinsAGC (p.Trp515Ala) c.1521_1523delinsAGC (p.Trp508Ala) n.1542_1544delinsAGC c.74_76delinsAGC c.1713_1715delinsAGC (p.Trp572Ala) | COSMIC |
1 | g.43349337T>A | CA339988068 | MPL | c.1543T>A (p.Trp515Arg) c.1522T>A (p.Trp508Arg) n.1543T>A c.75T>A c.1714T>A (p.Trp572Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.43349337T>C | CA339988070 | MPL | c.1543T>C (p.Trp515Arg) c.1522T>C (p.Trp508Arg) n.1543T>C c.75T>C c.1714T>C (p.Trp572Arg) | gnomAD v4 COSMIC |
1 | g.43349337T>G | CA339988063 | MPL | c.1543T>G (p.Trp515Gly) c.1522T>G (p.Trp508Gly) n.1543T>G c.75T>G c.1714T>G (p.Trp572Gly) | dbSNP |
1 | g.43349337T= | CA1165580045 | MPL | c.1543T= (p.Trp515=) c.1522T= (p.Trp508=) n.1543T= c.75T= c.1714T= (p.Trp572=) | |
1 | g.43349337_43349338delinsAA | CA123794 | MPL | c.1543_1544delinsAA (p.Trp515Lys) c.1522_1523delinsAA (p.Trp508Lys) n.1543_1544delinsAA c.75_76delinsAA c.1714_1715delinsAA (p.Trp572Lys) | ClinVar dbSNP COSMIC |
1 | g.43349337_43349338delinsGC | CA645528778 | MPL | c.1543_1544delinsGC (p.Trp515Ala) c.1522_1523delinsGC (p.Trp508Ala) n.1543_1544delinsGC c.75_76delinsGC c.1714_1715delinsGC (p.Trp572Ala) | ClinVar COSMIC |
1 | g.43349337_43349338delinsTG | CA1141580751 | MPL | c.1543_1544delinsTG (p.Trp515=) c.1522_1523delinsTG (p.Trp508=) n.1543_1544delinsTG c.75_76delinsTG c.1714_1715delinsTG (p.Trp572=) | |
1 | g.43349337_43349339delinsAAA | CA645528776 | MPL | c.1543_1545delinsAAA (p.Trp515Lys) c.1522_1524delinsAAA (p.Trp508Lys) n.1543_1545delinsAAA c.75_77delinsAAA c.1714_1716delinsAAA (p.Trp572Lys) | COSMIC |
1 | g.43349337_43349339delinsGCT | CA2695202311 | MPL | c.1543_1545delinsGCT (p.Trp515Ala) c.1522_1524delinsGCT (p.Trp508Ala) n.1543_1545delinsGCT c.75_77delinsGCT c.1714_1716delinsGCT (p.Trp572Ala) | |
1 | g.43349337_43349346delinsAAAA | CA645528777 | MPL | c.1543_1552delinsAAAA (p.Trp515_Pro518delinsLysThr) c.1522_1531delinsAAAA (p.Trp508_Pro511delinsLysThr) n.1543_1552delinsAAAA c.75_84delinsAAAA c.1714_1723delinsAAAA (p.Trp572_Pro575delinsLysThr) | COSMIC |
1 | g.43349338G>A | CA339988074 | MPL | c.1544G>A (p.Trp515Ter) c.1523G>A (p.Trp508Ter) n.1544G>A c.76G>A c.1715G>A (p.Trp572Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43349338G>C | CA21612475 | MPL | c.1544G>C (p.Trp515Ser) c.1523G>C (p.Trp508Ser) n.1544G>C c.76G>C c.1715G>C (p.Trp572Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.43349338G= | CA1141580752 | MPL | c.1544G= (p.Trp515=) c.1523G= (p.Trp508=) n.1544G= c.76G= c.1715G= (p.Trp572=) | |
1 | g.43349338G>T | CA123792 | MPL | c.1544G>T (p.Trp515Leu) c.1523G>T (p.Trp508Leu) n.1544G>T c.76G>T c.1715G>T (p.Trp572Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.43349339dup | CA2841605008 | MPL | c.1545dup (p.Gln516AlafsTer29) c.1524dup (p.Gln509AlafsTer29) n.1545dup c.77dup c.1545dup (p.Gln516AlafsTer?) c.1545dup (p.Gln516AlafsTer26) c.1716dup (p.Gln573AlafsTer29) | |
1 | g.43349339G>A | CA339988083 | MPL | c.1545G>A (p.Trp515Ter) c.1524G>A (p.Trp508Ter) n.1545G>A c.77G>A c.1716G>A (p.Trp572Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43349339G>C | CA339988084 | MPL | c.1545G>C (p.Trp515Cys) c.1524G>C (p.Trp508Cys) n.1545G>C c.77G>C c.1716G>C (p.Trp572Cys) | |
1 | g.43349339G= | CA1165580059 | MPL | c.1545G= (p.Trp515=) c.1524G= (p.Trp508=) n.1545G= c.77G= c.1716G= (p.Trp572=) | |
1 | g.43349339G>T | CA339988086 | MPL | c.1545G>T (p.Trp515Cys) c.1524G>T (p.Trp508Cys) n.1545G>T c.77G>T c.1716G>T (p.Trp572Cys) | dbSNP |
1 | g.43349339_43349340dup | CA2580062809 | MPL | c.1545_1546dup (p.Gln516ArgfsTer10) c.1524_1525dup (p.Gln509ArgfsTer10) n.1545_1546dup c.77_78dup c.1545_1546dup (p.Gln516ArgfsTer27) c.1545_1546dup (p.Gln516ArgfsTer?) c.1716_1717dup (p.Gln573ArgfsTer10) | ClinVar |
1 | g.43349340C>A | CA339988091 | MPL | c.1546C>A (p.Gln516Lys) c.1525C>A (p.Gln509Lys) n.1546C>A c.78C>A c.1717C>A (p.Gln573Lys) | |
1 | g.43349340C>G | CA339988099 | MPL | c.1546C>G (p.Gln516Glu) c.1525C>G (p.Gln509Glu) n.1546C>G c.78C>G c.1717C>G (p.Gln573Glu) | dbSNP gnomAD v4 |
1 | g.43349340C>T | CA339988093 | MPL | c.1546C>T (p.Gln516Ter) c.1525C>T (p.Gln509Ter) n.1546C>T c.78C>T c.1717C>T (p.Gln573Ter) | ClinVar dbSNP |
1 | g.43349341A>C | CA339988100 | MPL | c.1547A>C (p.Gln516Pro) c.1526A>C (p.Gln509Pro) n.1547A>C c.79A>C c.1718A>C (p.Gln573Pro) | |
1 | g.43349341A>G | CA339988101 | MPL | c.1547A>G (p.Gln516Arg) c.1526A>G (p.Gln509Arg) n.1547A>G c.79A>G c.1718A>G (p.Gln573Arg) | gnomAD v4 |
1 | g.43349341A>T | CA339988102 | MPL | c.1547A>T (p.Gln516Leu) c.1526A>T (p.Gln509Leu) n.1547A>T c.79A>T c.1718A>T (p.Gln573Leu) | |
1 | g.43349342G>A | CA417547222 | MPL | c.1548G>A (p.Gln516=) c.1527G>A (p.Gln509=) n.1548G>A c.80G>A c.1719G>A (p.Gln573=) | dbSNP |
1 | g.43349342G>C | CA339988105 | MPL | c.1548G>C (p.Gln516His) c.1527G>C (p.Gln509His) n.1548G>C c.80G>C c.1719G>C (p.Gln573His) | |
1 | g.43349342G= | CA1165580061 | MPL | c.1548G= (p.Gln516=) c.1527G= (p.Gln509=) n.1548G= c.80G= c.1719G= (p.Gln573=) | |
1 | g.43349342G>T | CA339988115 | MPL | c.1548G>T (p.Gln516His) c.1527G>T (p.Gln509His) n.1548G>T c.80G>T c.1719G>T (p.Gln573His) | |
1 | g.43349343T>A | CA339988119 | MPL | c.1549T>A (p.Phe517Ile) c.1528T>A (p.Phe510Ile) n.1549T>A c.81T>A c.1720T>A (p.Phe574Ile) | |
1 | g.43349343T>C | CA339988121 | MPL | c.1549T>C (p.Phe517Leu) c.1528T>C (p.Phe510Leu) n.1549T>C c.81T>C c.1720T>C (p.Phe574Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43349343T>G | CA339988118 | MPL | c.1549T>G (p.Phe517Val) c.1528T>G (p.Phe510Val) n.1549T>G c.81T>G c.1720T>G (p.Phe574Val) | |
1 | g.43349343T= | CA1165580062 | MPL | c.1549T= (p.Phe517=) c.1528T= (p.Phe510=) n.1549T= c.81T= c.1720T= (p.Phe574=) | |
1 | g.43349344T>A | CA339988158 | MPL | c.1550T>A (p.Phe517Tyr) c.1529T>A (p.Phe510Tyr) n.1550T>A c.82T>A c.1721T>A (p.Phe574Tyr) | |
1 | g.43349344T>C | CA339988136 | MPL | c.1550T>C (p.Phe517Ser) c.1529T>C (p.Phe510Ser) n.1550T>C c.82T>C c.1721T>C (p.Phe574Ser) | |
1 | g.43349344T>G | CA339988155 | MPL | c.1550T>G (p.Phe517Cys) c.1529T>G (p.Phe510Cys) n.1550T>G c.82T>G c.1721T>G (p.Phe574Cys) | |
1 | g.43349345T>A | CA339988166 | MPL | c.1551T>A (p.Phe517Leu) c.1530T>A (p.Phe510Leu) n.1551T>A c.83T>A c.1722T>A (p.Phe574Leu) | |
1 | g.43349345T>C | CA417547229 | MPL | c.1551T>C (p.Phe517=) c.1530T>C (p.Phe510=) n.1551T>C c.83T>C c.1722T>C (p.Phe574=) | |
1 | g.43349345T>G | CA339988170 | MPL | c.1551T>G (p.Phe517Leu) c.1530T>G (p.Phe510Leu) n.1551T>G c.83T>G c.1722T>G (p.Phe574Leu) | |
1 | g.43349346C>A | CA339988179 | MPL | c.1552C>A (p.Pro518Thr) c.1531C>A (p.Pro511Thr) n.1552C>A c.84C>A c.1723C>A (p.Pro575Thr) | |
1 | g.43349346C>G | CA339988185 | MPL | c.1552C>G (p.Pro518Ala) c.1531C>G (p.Pro511Ala) n.1552C>G c.84C>G c.1723C>G (p.Pro575Ala) | |
1 | g.43349346C>T | CA339988188 | MPL | c.1552C>T (p.Pro518Ser) c.1531C>T (p.Pro511Ser) n.1552C>T c.84C>T c.1723C>T (p.Pro575Ser) | |
1 | g.43349347C>A | CA339988198 | MPL | c.1553C>A (p.Pro518His) c.1532C>A (p.Pro511His) n.1553C>A c.85C>A c.1724C>A (p.Pro575His) | |
1 | g.43349347C>G | CA339988206 | MPL | c.1553C>G (p.Pro518Arg) c.1532C>G (p.Pro511Arg) n.1553C>G c.85C>G c.1724C>G (p.Pro575Arg) | |
1 | g.43349347C>T | CA339988201 | MPL | c.1553C>T (p.Pro518Leu) c.1532C>T (p.Pro511Leu) n.1553C>T c.85C>T c.1724C>T (p.Pro575Leu) | |
1 | g.43349348del | CA417547240 | MPL | c.1554del (p.Ala519HisfsTer6) c.1533del (p.Ala512HisfsTer6) n.1554del c.86del c.1554del (p.Ala519HisfsTer23) c.1554del (p.Ala519HisfsTer?) c.1725del (p.Ala576HisfsTer6) | |
1 | g.43349348T>A | CA417547235 | MPL | c.1554T>A (p.Pro518=) c.1533T>A (p.Pro511=) n.1554T>A c.86T>A c.1725T>A (p.Pro575=) | |
1 | g.43349348T>C | CA417547238 | MPL | c.1554T>C (p.Pro518=) c.1533T>C (p.Pro511=) n.1554T>C c.86T>C c.1725T>C (p.Pro575=) | |
1 | g.43349348T>G | CA806931 | MPL | c.1554T>G (p.Pro518=) c.1533T>G (p.Pro511=) n.1554T>G c.86T>G c.1725T>G (p.Pro575=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43349348T= | CA1165580064 | MPL | c.1554T= (p.Pro518=) c.1533T= (p.Pro511=) n.1554T= c.86T= c.1725T= (p.Pro575=) | |
1 | g.43349349G>A | CA339988223 | MPL | c.1555G>A (p.Ala519Thr) c.1534G>A (p.Ala512Thr) n.1555G>A c.87G>A c.1726G>A (p.Ala576Thr) | dbSNP gnomAD v4 COSMIC |
1 | g.43349349G>C | CA339988226 | MPL | c.1555G>C (p.Ala519Pro) c.1534G>C (p.Ala512Pro) n.1555G>C c.87G>C c.1726G>C (p.Ala576Pro) | |
1 | g.43349349G>T | CA339988230 | MPL | c.1555G>T (p.Ala519Ser) c.1534G>T (p.Ala512Ser) n.1555G>T c.87G>T c.1726G>T (p.Ala576Ser) | |
1 | g.43349350C>A | CA339988254 | MPL | c.1556C>A (p.Ala519Glu) c.1535C>A (p.Ala512Glu) n.1556C>A c.88C>A c.1727C>A (p.Ala576Glu) | |
1 | g.43349350C>G | CA339988265 | MPL | c.1556C>G (p.Ala519Gly) c.1535C>G (p.Ala512Gly) n.1556C>G c.88C>G c.1727C>G (p.Ala576Gly) | |
1 | g.43349350C>T | CA339988257 | MPL | c.1556C>T (p.Ala519Val) c.1535C>T (p.Ala512Val) n.1556C>T c.88C>T c.1727C>T (p.Ala576Val) | COSMIC |
1 | g.43349351A>C | CA417547242 | MPL | c.1557A>C (p.Ala519=) c.1536A>C (p.Ala512=) n.1557A>C c.89A>C c.1728A>C (p.Ala576=) | |
1 | g.43349351A>G | CA417547243 | MPL | c.1557A>G (p.Ala519=) c.1536A>G (p.Ala512=) n.1557A>G c.89A>G c.1728A>G (p.Ala576=) | |
1 | g.43349351A>T | CA417547246 | MPL | c.1557A>T (p.Ala519=) c.1536A>T (p.Ala512=) n.1557A>T c.89A>T c.1728A>T (p.Ala576=) | |
1 | g.43349352C>A | CA339988279 | MPL | c.1558C>A (p.His520Asn) c.1537C>A (p.His513Asn) n.1558C>A c.90C>A c.1729C>A (p.His577Asn) | gnomAD v4 |
1 | g.43349352C= | CA1165580065 | MPL | c.1558C= (p.His520=) c.1537C= (p.His513=) n.1558C= c.90C= c.1729C= (p.His577=) | |
1 | g.43349352C>G | CA339988290 | MPL | c.1558C>G (p.His520Asp) c.1537C>G (p.His513Asp) n.1558C>G c.90C>G c.1729C>G (p.His577Asp) | |
1 | g.43349352C>T | CA339988293 | MPL | c.1558C>T (p.His520Tyr) c.1537C>T (p.His513Tyr) n.1558C>T c.90C>T c.1729C>T (p.His577Tyr) | dbSNP gnomAD v4 |
1 | g.43349353A>C | CA339988300 | MPL | c.1559A>C (p.His520Pro) c.1538A>C (p.His513Pro) n.1559A>C c.91A>C c.1730A>C (p.His577Pro) | |
1 | g.43349353A>G | CA339988303 | MPL | c.1559A>G (p.His520Arg) c.1538A>G (p.His513Arg) n.1559A>G c.91A>G c.1730A>G (p.His577Arg) | |
1 | g.43349353A>T | CA339988305 | MPL | c.1559A>T (p.His520Leu) c.1538A>T (p.His513Leu) n.1559A>T c.91A>T c.1730A>T (p.His577Leu) | |
1 | g.43349354C>A | CA339988307 | MPL | c.1560C>A (p.His520Gln) c.1539C>A (p.His513Gln) n.1560C>A c.92C>A c.1731C>A (p.His577Gln) | gnomAD v4 |
1 | g.43349354C>G | CA339988315 | MPL | c.1560C>G (p.His520Gln) c.1539C>G (p.His513Gln) n.1560C>G c.92C>G c.1731C>G (p.His577Gln) | |
1 | g.43349354C>T | CA417547252 | MPL | c.1560C>T (p.His520=) c.1539C>T (p.His513=) n.1560C>T c.92C>T c.1731C>T (p.His577=) | |
1 | g.43349355T>A | CA339988320 | MPL | c.1561T>A (p.Tyr521Asn) c.1540T>A (p.Tyr514Asn) n.1561T>A c.93T>A c.1732T>A (p.Tyr578Asn) | |
1 | g.43349355T>C | CA339988322 | MPL | c.1561T>C (p.Tyr521His) c.1540T>C (p.Tyr514His) n.1561T>C c.93T>C c.1732T>C (p.Tyr578His) | gnomAD v4 |
1 | g.43349355T>G | CA339988325 | MPL | c.1561T>G (p.Tyr521Asp) c.1540T>G (p.Tyr514Asp) n.1561T>G c.93T>G c.1732T>G (p.Tyr578Asp) | |
1 | g.43349356A= | CA1165580067 | MPL | c.1562A= (p.Tyr521=) c.1541A= (p.Tyr514=) n.1562A= c.94A= c.1733A= (p.Tyr578=) | |
1 | g.43349356A>C | CA339988338 | MPL | c.1562A>C (p.Tyr521Ser) c.1541A>C (p.Tyr514Ser) n.1562A>C c.94A>C c.1733A>C (p.Tyr578Ser) | |
1 | g.43349356A>G | CA806932 | MPL | c.1562A>G (p.Tyr521Cys) c.1541A>G (p.Tyr514Cys) n.1562A>G c.94A>G c.1733A>G (p.Tyr578Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43349356A>T | CA339988332 | MPL | c.1562A>T (p.Tyr521Phe) c.1541A>T (p.Tyr514Phe) n.1562A>T c.94A>T c.1733A>T (p.Tyr578Phe) | |
1 | g.43349357C>A | CA339988340 | MPL | c.1563C>A (p.Tyr521Ter) c.1542C>A (p.Tyr514Ter) n.1563C>A c.95C>A c.1734C>A (p.Tyr578Ter) | ClinVar dbSNP |
1 | g.43349357C= | CA1165580069 | MPL | c.1563C= (p.Tyr521=) c.1542C= (p.Tyr514=) n.1563C= c.95C= c.1734C= (p.Tyr578=) | |
1 | g.43349357C>G | CA339988339 | MPL | c.1563C>G (p.Tyr521Ter) c.1542C>G (p.Tyr514Ter) n.1563C>G c.95C>G c.1734C>G (p.Tyr578Ter) | |
1 | g.43349357C>T | CA417547253 | MPL | c.1563C>T (p.Tyr521=) c.1542C>T (p.Tyr514=) n.1563C>T c.95C>T c.1734C>T (p.Tyr578=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.43349358A>C | CA417547254 | MPL | c.1564A>C (p.Arg522=) c.1543A>C (p.Arg515=) n.1564A>C c.96A>C c.1735A>C (p.Arg579=) | gnomAD v4 |
1 | g.43349358A>G | CA339988343 | MPL | c.1564A>G (p.Arg522Gly) c.1543A>G (p.Arg515Gly) n.1564A>G c.96A>G c.1735A>G (p.Arg579Gly) | |
1 | g.43349358A>T | CA339988345 | MPL | c.1564A>T (p.Arg522Trp) c.1543A>T (p.Arg515Trp) n.1564A>T c.96A>T c.1735A>T (p.Arg579Trp) | |
1 | g.43349359G>A | CA339988347 | MPL | c.1565G>A (p.Arg522Lys) c.1544G>A (p.Arg515Lys) n.1565G>A c.97G>A c.1736G>A (p.Arg579Lys) | |
1 | g.43349359G>C | CA339988349 | MPL | c.1565G>C (p.Arg522Thr) c.1544G>C (p.Arg515Thr) n.1565G>C c.97G>C c.1736G>C (p.Arg579Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43349359G= | CA1165580070 | MPL | c.1565G= (p.Arg522=) c.1544G= (p.Arg515=) n.1565G= c.97G= c.1736G= (p.Arg579=) | |
1 | g.43349359G>T | CA339988352 | MPL | c.1565G>T (p.Arg522Met) c.1544G>T (p.Arg515Met) n.1565G>T c.97G>T c.1736G>T (p.Arg579Met) | COSMIC |
1 | g.43349360G>A | CA339988361 | MPL | c.1565+1G>A (n.1565+1G>A) c.1544+1G>A (n.1544+1G>A) n.1566G>A c.97+1G>A c.1566G>A (p.Arg522=) c.1736+1G>A (n.1736+1G>A) | |
1 | g.43349360G>C | CA339988362 | MPL | c.1565+1G>C (n.1565+1G>C) c.1544+1G>C (n.1544+1G>C) n.1566G>C c.97+1G>C c.1566G>C (p.Arg522Ser) c.1736+1G>C (n.1736+1G>C) | |
1 | g.43349360G>T | CA339988364 | MPL | c.1565+1G>T (n.1565+1G>T) c.1544+1G>T (n.1544+1G>T) n.1566G>T c.97+1G>T c.1566G>T (p.Arg522Ser) c.1736+1G>T (n.1736+1G>T) | |
1 | g.43349360_43349361insAGAC | CA2743377892 | MPL | c.1565+1_1565+2insAGAC (n.1565+1_1565+2insAGAC) c.1544+1_1544+2insAGAC (n.1544+1_1544+2insAGAC) n.1566_1567insAGAC c.97+1_97+2insAGAC c.1566_1567insAGAC (p.Tyr523ArgfsTer?) c.1566_1567insAGAC (p.Tyr523ArgfsTer20) c.1736+1_1736+2insAGAC (n.1736+1_1736+2insAGAC) | |
1 | g.43349361T>A | CA339988368 | MPL | c.1565+2T>A (n.1565+2T>A) c.1544+2T>A (n.1544+2T>A) n.1567T>A c.97+2T>A c.1567T>A (p.Tyr523Asn) c.1736+2T>A (n.1736+2T>A) | |
1 | g.43349361T>C | CA806933 | MPL | c.1565+2T>C (n.1565+2T>C) c.1544+2T>C (n.1544+2T>C) n.1567T>C c.97+2T>C c.1567T>C (p.Tyr523His) c.1736+2T>C (n.1736+2T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43349361T>G | CA339988384 | MPL | c.1565+2T>G (n.1565+2T>G) c.1544+2T>G (n.1544+2T>G) n.1567T>G c.97+2T>G c.1567T>G (p.Tyr523Asp) c.1736+2T>G (n.1736+2T>G) | |
1 | g.43349361T= | CA1165580072 | MPL | c.1565+2T= (n.1565+2T=) c.1544+2T= (n.1544+2T=) n.1567T= c.97+2T= c.1567T= (p.Tyr523=) c.1736+2T= (n.1736+2T=) | |
1 | g.43349361_43349362insGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGC | CA2743377893 | MPL | c.1565+2_1565+3insGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGC (n.1565+2_1565+3insGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGC) c.1544+2_1544+3insGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGC (n.1544+2_1544+3insGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGC) n.1567_1568insGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGC c.97+2_97+3insGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGC c.1567_1568insGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGC (p.Tyr523Ter) c.1736+2_1736+3insGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGC (n.1736+2_1736+3insGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGC) | |
1 | g.43349362A>C | CA339988393 | MPL | c.1565+3A>C (n.1565+3A>C) c.1544+3A>C (n.1544+3A>C) n.1568A>C c.97+3A>C c.1568A>C (p.Tyr523Ser) c.1736+3A>C (n.1736+3A>C) | dbSNP |
1 | g.43349362A>G | CA339988398 | MPL | c.1565+3A>G (n.1565+3A>G) c.1544+3A>G (n.1544+3A>G) n.1568A>G c.97+3A>G c.1568A>G (p.Tyr523Cys) c.1736+3A>G (n.1736+3A>G) | |
1 | g.43349362A>T | CA339988389 | MPL | c.1565+3A>T (n.1565+3A>T) c.1544+3A>T (n.1544+3A>T) n.1568A>T c.97+3A>T c.1568A>T (p.Tyr523Phe) c.1736+3A>T (n.1736+3A>T) | |
1 | g.43349363C>A | CA339988399 | MPL | c.1565+4C>A (n.1565+4C>A) c.1544+4C>A (n.1544+4C>A) n.1569C>A c.97+4C>A c.1569C>A (p.Tyr523Ter) c.1736+4C>A (n.1736+4C>A) | |
1 | g.43349363C>G | CA339988400 | MPL | c.1565+4C>G (n.1565+4C>G) c.1544+4C>G (n.1544+4C>G) n.1569C>G c.97+4C>G c.1569C>G (p.Tyr523Ter) c.1736+4C>G (n.1736+4C>G) | |
1 | g.43349363C>T | CA2645226580 | MPL | c.1565+4C>T (n.1565+4C>T) c.1544+4C>T (n.1544+4C>T) n.1569C>T c.97+4C>T c.1569C>T (p.Tyr523=) c.1736+4C>T (n.1736+4C>T) | gnomAD v4 |
1 | g.43349364C>A | CA339988403 | MPL | c.1565+5C>A (n.1565+5C>A) c.1544+5C>A (n.1544+5C>A) n.1570C>A c.97+5C>A c.1570C>A (p.Arg524Ser) c.1736+5C>A (n.1736+5C>A) | |
1 | g.43349364C= | CA1140610408 | MPL | c.1565+5C= (n.1565+5C=) c.1544+5C= (n.1544+5C=) n.1570C= c.97+5C= c.1570C= (p.Arg524=) c.1736+5C= (n.1736+5C=) | |
1 | g.43349364C>G | CA339988408 | MPL | c.1565+5C>G (n.1565+5C>G) c.1544+5C>G (n.1544+5C>G) n.1570C>G c.97+5C>G c.1570C>G (p.Arg524Gly) c.1736+5C>G (n.1736+5C>G) | |
1 | g.43349364C>T | CA163018 | MPL | c.1565+5C>T (n.1565+5C>T) c.1544+5C>T (n.1544+5C>T) n.1570C>T c.97+5C>T c.1570C>T (p.Arg524Cys) c.1736+5C>T (n.1736+5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.43349365G>A | CA339988423 | MPL | c.1565+6G>A (n.1565+6G>A) c.1544+6G>A (n.1544+6G>A) n.1571G>A c.97+6G>A c.1571G>A (p.Arg524His) c.1736+6G>A (n.1736+6G>A) | gnomAD v4 |
1 | g.43349365G>C | CA339988413 | MPL | c.1565+6G>C (n.1565+6G>C) c.1544+6G>C (n.1544+6G>C) n.1571G>C c.97+6G>C c.1571G>C (p.Arg524Pro) c.1736+6G>C (n.1736+6G>C) | |
1 | g.43349365G= | CA1165580076 | MPL | c.1565+6G= (n.1565+6G=) c.1544+6G= (n.1544+6G=) n.1571G= c.97+6G= c.1571G= (p.Arg524=) c.1736+6G= (n.1736+6G=) | |
1 | g.43349365G>T | CA339988416 | MPL | c.1565+6G>T (n.1565+6G>T) c.1544+6G>T (n.1544+6G>T) n.1571G>T c.97+6G>T c.1571G>T (p.Arg524Leu) c.1736+6G>T (n.1736+6G>T) | gnomAD v4 |
1 | g.43349366C>A | CA2645226583 | MPL | c.1565+7C>A (n.1565+7C>A) c.1544+7C>A (n.1544+7C>A) n.1572C>A c.97+7C>A c.1572C>A (p.Arg524=) c.1736+7C>A (n.1736+7C>A) | gnomAD v4 |
1 | g.43349366C>T | CA2645226582 | MPL | c.1565+7C>T (n.1565+7C>T) c.1544+7C>T (n.1544+7C>T) n.1572C>T c.97+7C>T c.1572C>T (p.Arg524=) c.1736+7C>T (n.1736+7C>T) | gnomAD v4 |
1 | g.43349370dup | CA522805857 | MPL | c.1565+11dup (n.1565+11dup) c.1544+11dup (n.1544+11dup) n.1576dup c.97+11dup c.1576dup (p.Arg526ProfsTer?) c.1576dup (p.Arg526ProfsTer16) c.1736+11dup (n.1736+11dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43349370del | CA1139770909 | MPL | c.1565+11del (n.1565+11del) c.1544+11del (n.1544+11del) n.1576del c.97+11del c.1576del (p.Arg526AlafsTer16) c.1576del (p.Arg526AlafsTer24) c.1736+11del (n.1736+11del) | gnomAD v4 |
1 | g.43349367C>A | CA339988433 | MPL | c.1565+8C>A (n.1565+8C>A) c.1544+8C>A (n.1544+8C>A) n.1573C>A c.97+8C>A c.1573C>A (p.Pro525Thr) c.1736+8C>A (n.1736+8C>A) | |
1 | g.43349367C>G | CA339988434 | MPL | c.1565+8C>G (n.1565+8C>G) c.1544+8C>G (n.1544+8C>G) n.1573C>G c.97+8C>G c.1573C>G (p.Pro525Ala) c.1736+8C>G (n.1736+8C>G) | |
1 | g.43349367C>T | CA339988443 | MPL | c.1565+8C>T (n.1565+8C>T) c.1544+8C>T (n.1544+8C>T) n.1573C>T c.97+8C>T c.1573C>T (p.Pro525Ser) c.1736+8C>T (n.1736+8C>T) |