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 |