Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.50286482C>A | CA406958761 | MYH14 | c.4441C>A (p.Leu1481Ile) c.4540C>A (p.Leu1514Ile) c.1429C>A (p.Leu477Ile) c.4417C>A (p.Leu1473Ile) c.346C>A (p.Leu116Ile) n.1719C>A c.4561C>A (p.Leu1521Ile) c.4537C>A (p.Leu1513Ile) c.4465C>A (p.Leu1489Ile) | |
19 | g.50286482C= | CA2340825492 | MYH14 | c.4441C= (p.Leu1481=) c.4540C= (p.Leu1514=) c.1429C= (p.Leu477=) c.4417C= (p.Leu1473=) c.346C= (p.Leu116=) n.1719C= c.4561C= (p.Leu1521=) c.4537C= (p.Leu1513=) c.4465C= (p.Leu1489=) | |
19 | g.50286482C>G | CA406958762 | MYH14 | c.4441C>G (p.Leu1481Val) c.4540C>G (p.Leu1514Val) c.1429C>G (p.Leu477Val) c.4417C>G (p.Leu1473Val) c.346C>G (p.Leu116Val) n.1719C>G c.4561C>G (p.Leu1521Val) c.4537C>G (p.Leu1513Val) c.4465C>G (p.Leu1489Val) | |
19 | g.50286482C>T | CA406958763 | MYH14 | c.4441C>T (p.Leu1481Phe) c.4540C>T (p.Leu1514Phe) c.1429C>T (p.Leu477Phe) c.4417C>T (p.Leu1473Phe) c.346C>T (p.Leu116Phe) n.1719C>T c.4561C>T (p.Leu1521Phe) c.4537C>T (p.Leu1513Phe) c.4465C>T (p.Leu1489Phe) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.50286483T>A | CA406958764 | MYH14 | c.4442T>A (p.Leu1481His) c.4541T>A (p.Leu1514His) c.1430T>A (p.Leu477His) c.4418T>A (p.Leu1473His) c.347T>A (p.Leu116His) n.1720T>A c.4562T>A (p.Leu1521His) c.4538T>A (p.Leu1513His) c.4466T>A (p.Leu1489His) | |
19 | g.50286483T>C | CA406958766 | MYH14 | c.4442T>C (p.Leu1481Pro) c.4541T>C (p.Leu1514Pro) c.1430T>C (p.Leu477Pro) c.4418T>C (p.Leu1473Pro) c.347T>C (p.Leu116Pro) n.1720T>C c.4562T>C (p.Leu1521Pro) c.4538T>C (p.Leu1513Pro) c.4466T>C (p.Leu1489Pro) | |
19 | g.50286483T>G | CA406958765 | MYH14 | c.4442T>G (p.Leu1481Arg) c.4541T>G (p.Leu1514Arg) c.1430T>G (p.Leu477Arg) c.4418T>G (p.Leu1473Arg) c.347T>G (p.Leu116Arg) n.1720T>G c.4562T>G (p.Leu1521Arg) c.4538T>G (p.Leu1513Arg) c.4466T>G (p.Leu1489Arg) | |
19 | g.50286484T>A | CA508177926 | MYH14 | c.4443T>A (p.Leu1481=) c.4542T>A (p.Leu1514=) c.1431T>A (p.Leu477=) c.4419T>A (p.Leu1473=) c.348T>A (p.Leu116=) n.1721T>A c.4563T>A (p.Leu1521=) c.4539T>A (p.Leu1513=) c.4467T>A (p.Leu1489=) | |
19 | g.50286484T>C | CA508177925 | MYH14 | c.4443T>C (p.Leu1481=) c.4542T>C (p.Leu1514=) c.1431T>C (p.Leu477=) c.4419T>C (p.Leu1473=) c.348T>C (p.Leu116=) n.1721T>C c.4563T>C (p.Leu1521=) c.4539T>C (p.Leu1513=) c.4467T>C (p.Leu1489=) | |
19 | g.50286484T>G | CA508177924 | MYH14 | c.4443T>G (p.Leu1481=) c.4542T>G (p.Leu1514=) c.1431T>G (p.Leu477=) c.4419T>G (p.Leu1473=) c.348T>G (p.Leu116=) n.1721T>G c.4563T>G (p.Leu1521=) c.4539T>G (p.Leu1513=) c.4467T>G (p.Leu1489=) | |
19 | g.50286485C>A | CA406958767 | MYH14 | c.4444C>A (p.Leu1482Met) c.4543C>A (p.Leu1515Met) c.1432C>A (p.Leu478Met) c.4420C>A (p.Leu1474Met) c.349C>A (p.Leu117Met) n.1722C>A c.4564C>A (p.Leu1522Met) c.4540C>A (p.Leu1514Met) c.4468C>A (p.Leu1490Met) | |
19 | g.50286485C>G | CA406958768 | MYH14 | c.4444C>G (p.Leu1482Val) c.4543C>G (p.Leu1515Val) c.1432C>G (p.Leu478Val) c.4420C>G (p.Leu1474Val) c.349C>G (p.Leu117Val) n.1722C>G c.4564C>G (p.Leu1522Val) c.4540C>G (p.Leu1514Val) c.4468C>G (p.Leu1490Val) | |
19 | g.50286485C>T | CA508177927 | MYH14 | c.4444C>T (p.Leu1482=) c.4543C>T (p.Leu1515=) c.1432C>T (p.Leu478=) c.4420C>T (p.Leu1474=) c.349C>T (p.Leu117=) n.1722C>T c.4564C>T (p.Leu1522=) c.4540C>T (p.Leu1514=) c.4468C>T (p.Leu1490=) | |
19 | g.50286486T>A | CA406958769 | MYH14 | c.4445T>A (p.Leu1482Gln) c.4544T>A (p.Leu1515Gln) c.1433T>A (p.Leu478Gln) c.4421T>A (p.Leu1474Gln) c.350T>A (p.Leu117Gln) n.1723T>A c.4565T>A (p.Leu1522Gln) c.4541T>A (p.Leu1514Gln) c.4469T>A (p.Leu1490Gln) | |
19 | g.50286486T>C | CA406958770 | MYH14 | c.4445T>C (p.Leu1482Pro) c.4544T>C (p.Leu1515Pro) c.1433T>C (p.Leu478Pro) c.4421T>C (p.Leu1474Pro) c.350T>C (p.Leu117Pro) n.1723T>C c.4565T>C (p.Leu1522Pro) c.4541T>C (p.Leu1514Pro) c.4469T>C (p.Leu1490Pro) | |
19 | g.50286486T>G | CA406958771 | MYH14 | c.4445T>G (p.Leu1482Arg) c.4544T>G (p.Leu1515Arg) c.1433T>G (p.Leu478Arg) c.4421T>G (p.Leu1474Arg) c.350T>G (p.Leu117Arg) n.1723T>G c.4565T>G (p.Leu1522Arg) c.4541T>G (p.Leu1514Arg) c.4469T>G (p.Leu1490Arg) | |
19 | g.50286487G>A | CA508177928 | MYH14 | c.4446G>A (p.Leu1482=) c.4545G>A (p.Leu1515=) c.1434G>A (p.Leu478=) c.4422G>A (p.Leu1474=) c.351G>A (p.Leu117=) n.1724G>A c.4566G>A (p.Leu1522=) c.4542G>A (p.Leu1514=) c.4470G>A (p.Leu1490=) | |
19 | g.50286487G>C | CA508177930 | MYH14 | c.4446G>C (p.Leu1482=) c.4545G>C (p.Leu1515=) c.1434G>C (p.Leu478=) c.4422G>C (p.Leu1474=) c.351G>C (p.Leu117=) n.1724G>C c.4566G>C (p.Leu1522=) c.4542G>C (p.Leu1514=) c.4470G>C (p.Leu1490=) | |
19 | g.50286487G>T | CA508177929 | MYH14 | c.4446G>T (p.Leu1482=) c.4545G>T (p.Leu1515=) c.1434G>T (p.Leu478=) c.4422G>T (p.Leu1474=) c.351G>T (p.Leu117=) n.1724G>T c.4566G>T (p.Leu1522=) c.4542G>T (p.Leu1514=) c.4470G>T (p.Leu1490=) | |
19 | g.50286488G>A | CA406958772 | MYH14 | c.4447G>A (p.Ala1483Thr) c.4546G>A (p.Ala1516Thr) c.1435G>A (p.Ala479Thr) c.4423G>A (p.Ala1475Thr) c.352G>A (p.Ala118Thr) n.1725G>A c.4567G>A (p.Ala1523Thr) c.4543G>A (p.Ala1515Thr) c.4471G>A (p.Ala1491Thr) | gnomAD v4 |
19 | g.50286488G>C | CA406958773 | MYH14 | c.4447G>C (p.Ala1483Pro) c.4546G>C (p.Ala1516Pro) c.1435G>C (p.Ala479Pro) c.4423G>C (p.Ala1475Pro) c.352G>C (p.Ala118Pro) n.1725G>C c.4567G>C (p.Ala1523Pro) c.4543G>C (p.Ala1515Pro) c.4471G>C (p.Ala1491Pro) | |
19 | g.50286488G>T | CA406958774 | MYH14 | c.4447G>T (p.Ala1483Ser) c.4546G>T (p.Ala1516Ser) c.1435G>T (p.Ala479Ser) c.4423G>T (p.Ala1475Ser) c.352G>T (p.Ala118Ser) n.1725G>T c.4567G>T (p.Ala1523Ser) c.4543G>T (p.Ala1515Ser) c.4471G>T (p.Ala1491Ser) | gnomAD v4 |
19 | g.50286489C>A | CA406958775 | MYH14 | c.4448C>A (p.Ala1483Glu) c.4547C>A (p.Ala1516Glu) c.1436C>A (p.Ala479Glu) c.4424C>A (p.Ala1475Glu) c.353C>A (p.Ala118Glu) n.1726C>A c.4568C>A (p.Ala1523Glu) c.4544C>A (p.Ala1515Glu) c.4472C>A (p.Ala1491Glu) | |
19 | g.50286489C>G | CA406958776 | MYH14 | c.4448C>G (p.Ala1483Gly) c.4547C>G (p.Ala1516Gly) c.1436C>G (p.Ala479Gly) c.4424C>G (p.Ala1475Gly) c.353C>G (p.Ala118Gly) n.1726C>G c.4568C>G (p.Ala1523Gly) c.4544C>G (p.Ala1515Gly) c.4472C>G (p.Ala1491Gly) | |
19 | g.50286489C>T | CA406958777 | MYH14 | c.4448C>T (p.Ala1483Val) c.4547C>T (p.Ala1516Val) c.1436C>T (p.Ala479Val) c.4424C>T (p.Ala1475Val) c.353C>T (p.Ala118Val) n.1726C>T c.4568C>T (p.Ala1523Val) c.4544C>T (p.Ala1515Val) c.4472C>T (p.Ala1491Val) | gnomAD v4 |
19 | g.50286490A>C | CA508177931 | MYH14 | c.4449A>C (p.Ala1483=) c.4548A>C (p.Ala1516=) c.1437A>C (p.Ala479=) c.4425A>C (p.Ala1475=) c.354A>C (p.Ala118=) n.1727A>C c.4569A>C (p.Ala1523=) c.4545A>C (p.Ala1515=) c.4473A>C (p.Ala1491=) | |
19 | g.50286490A>G | CA508177932 | MYH14 | c.4449A>G (p.Ala1483=) c.4548A>G (p.Ala1516=) c.1437A>G (p.Ala479=) c.4425A>G (p.Ala1475=) c.354A>G (p.Ala118=) n.1727A>G c.4569A>G (p.Ala1523=) c.4545A>G (p.Ala1515=) c.4473A>G (p.Ala1491=) | |
19 | g.50286490A>T | CA508177933 | MYH14 | c.4449A>T (p.Ala1483=) c.4548A>T (p.Ala1516=) c.1437A>T (p.Ala479=) c.4425A>T (p.Ala1475=) c.354A>T (p.Ala118=) n.1727A>T c.4569A>T (p.Ala1523=) c.4545A>T (p.Ala1515=) c.4473A>T (p.Ala1491=) | |
19 | g.50286490_50286493delinsAGAG | CA2340825493 | MYH14 | c.4449_4452delinsAGAG (p.Ala1483=) c.4548_4551delinsAGAG (p.Ala1516=) c.1437_1440delinsAGAG (p.Ala479=) c.4425_4428delinsAGAG (p.Ala1475=) c.354_357delinsAGAG (p.Ala118=) n.1727_1730delinsAGAG c.4569_4572delinsAGAG (p.Ala1523=) c.4545_4548delinsAGAG (p.Ala1515=) c.4473_4476delinsAGAG (p.Ala1491=) | |
19 | g.50286491G>A | CA406958778 | MYH14 | c.4450G>A (p.Glu1484Lys) c.4549G>A (p.Glu1517Lys) c.1438G>A (p.Glu480Lys) c.4426G>A (p.Glu1476Lys) c.355G>A (p.Glu119Lys) n.1728G>A c.4570G>A (p.Glu1524Lys) c.4546G>A (p.Glu1516Lys) c.4474G>A (p.Glu1492Lys) | ClinVar dbSNP |
19 | g.50286491G>C | CA406958780 | MYH14 | c.4450G>C (p.Glu1484Gln) c.4549G>C (p.Glu1517Gln) c.1438G>C (p.Glu480Gln) c.4426G>C (p.Glu1476Gln) c.355G>C (p.Glu119Gln) n.1728G>C c.4570G>C (p.Glu1524Gln) c.4546G>C (p.Glu1516Gln) c.4474G>C (p.Glu1492Gln) | |
19 | g.50286491G>T | CA406958779 | MYH14 | c.4450G>T (p.Glu1484Ter) c.4549G>T (p.Glu1517Ter) c.1438G>T (p.Glu480Ter) c.4426G>T (p.Glu1476Ter) c.355G>T (p.Glu119Ter) n.1728G>T c.4570G>T (p.Glu1524Ter) c.4546G>T (p.Glu1516Ter) c.4474G>T (p.Glu1492Ter) | |
19 | g.50286494_50286496del | CA2340825494 | MYH14 | c.4453_4455del (p.Glu1485del) c.4552_4554del (p.Glu1518del) c.1441_1443del (p.Glu481del) c.4429_4431del (p.Glu1477del) c.358_360del (p.Glu120del) n.1731_1733del c.4573_4575del (p.Glu1525del) c.4549_4551del (p.Glu1517del) c.4477_4479del (p.Glu1493del) | dbSNP |
19 | g.50286492A>C | CA406958781 | MYH14 | c.4451A>C (p.Glu1484Ala) c.4550A>C (p.Glu1517Ala) c.1439A>C (p.Glu480Ala) c.4427A>C (p.Glu1476Ala) c.356A>C (p.Glu119Ala) n.1729A>C c.4571A>C (p.Glu1524Ala) c.4547A>C (p.Glu1516Ala) c.4475A>C (p.Glu1492Ala) | |
19 | g.50286492A>G | CA406958782 | MYH14 | c.4451A>G (p.Glu1484Gly) c.4550A>G (p.Glu1517Gly) c.1439A>G (p.Glu480Gly) c.4427A>G (p.Glu1476Gly) c.356A>G (p.Glu119Gly) n.1729A>G c.4571A>G (p.Glu1524Gly) c.4547A>G (p.Glu1516Gly) c.4475A>G (p.Glu1492Gly) | |
19 | g.50286492A>T | CA406958783 | MYH14 | c.4451A>T (p.Glu1484Val) c.4550A>T (p.Glu1517Val) c.1439A>T (p.Glu480Val) c.4427A>T (p.Glu1476Val) c.356A>T (p.Glu119Val) n.1729A>T c.4571A>T (p.Glu1524Val) c.4547A>T (p.Glu1516Val) c.4475A>T (p.Glu1492Val) | |
19 | g.50286493G>A | CA508177936 | MYH14 | c.4452G>A (p.Glu1484=) c.4551G>A (p.Glu1517=) c.1440G>A (p.Glu480=) c.4428G>A (p.Glu1476=) c.357G>A (p.Glu119=) n.1730G>A c.4572G>A (p.Glu1524=) c.4548G>A (p.Glu1516=) c.4476G>A (p.Glu1492=) | |
19 | g.50286493G>C | CA406958784 | MYH14 | c.4452G>C (p.Glu1484Asp) c.4551G>C (p.Glu1517Asp) c.1440G>C (p.Glu480Asp) c.4428G>C (p.Glu1476Asp) c.357G>C (p.Glu119Asp) n.1730G>C c.4572G>C (p.Glu1524Asp) c.4548G>C (p.Glu1516Asp) c.4476G>C (p.Glu1492Asp) | |
19 | g.50286493G>T | CA406958785 | MYH14 | c.4452G>T (p.Glu1484Asp) c.4551G>T (p.Glu1517Asp) c.1440G>T (p.Glu480Asp) c.4428G>T (p.Glu1476Asp) c.357G>T (p.Glu119Asp) n.1730G>T c.4572G>T (p.Glu1524Asp) c.4548G>T (p.Glu1516Asp) c.4476G>T (p.Glu1492Asp) | |
19 | g.50286494G>A | CA406958786 | MYH14 | c.4453G>A (p.Glu1485Lys) c.4552G>A (p.Glu1518Lys) c.1441G>A (p.Glu481Lys) c.4429G>A (p.Glu1477Lys) c.358G>A (p.Glu120Lys) n.1731G>A c.4573G>A (p.Glu1525Lys) c.4549G>A (p.Glu1517Lys) c.4477G>A (p.Glu1493Lys) | gnomAD v4 |
19 | g.50286494G>C | CA406958787 | MYH14 | c.4453G>C (p.Glu1485Gln) c.4552G>C (p.Glu1518Gln) c.1441G>C (p.Glu481Gln) c.4429G>C (p.Glu1477Gln) c.358G>C (p.Glu120Gln) n.1731G>C c.4573G>C (p.Glu1525Gln) c.4549G>C (p.Glu1517Gln) c.4477G>C (p.Glu1493Gln) | |
19 | g.50286494G>T | CA406958788 | MYH14 | c.4453G>T (p.Glu1485Ter) c.4552G>T (p.Glu1518Ter) c.1441G>T (p.Glu481Ter) c.4429G>T (p.Glu1477Ter) c.358G>T (p.Glu120Ter) n.1731G>T c.4573G>T (p.Glu1525Ter) c.4549G>T (p.Glu1517Ter) c.4477G>T (p.Glu1493Ter) | |
19 | g.50286494_50286495delinsGA | CA2340825495 | MYH14 | c.4453_4454delinsGA (p.Glu1485=) c.4552_4553delinsGA (p.Glu1518=) c.1441_1442delinsGA (p.Glu481=) c.4429_4430delinsGA (p.Glu1477=) c.358_359delinsGA (p.Glu120=) n.1731_1732delinsGA c.4573_4574delinsGA (p.Glu1525=) c.4549_4550delinsGA (p.Glu1517=) c.4477_4478delinsGA (p.Glu1493=) | |
19 | g.50286495del | CA9593545 | MYH14 | c.4454del (p.Glu1485GlyfsTer29) c.4553del (p.Glu1518GlyfsTer29) c.1442del (p.Glu481GlyfsTer22) c.4430del (p.Glu1477GlyfsTer29) c.359del (p.Glu120GlyfsTer29) n.1732del c.4574del (p.Glu1525GlyfsTer29) c.4550del (p.Glu1517GlyfsTer29) c.4478del (p.Glu1493GlyfsTer29) | dbSNP ExAC |
19 | g.50286495A>C | CA406958789 | MYH14 | c.4454A>C (p.Glu1485Ala) c.4553A>C (p.Glu1518Ala) c.1442A>C (p.Glu481Ala) c.4430A>C (p.Glu1477Ala) c.359A>C (p.Glu120Ala) n.1732A>C c.4574A>C (p.Glu1525Ala) c.4550A>C (p.Glu1517Ala) c.4478A>C (p.Glu1493Ala) | |
19 | g.50286495A>G | CA406958790 | MYH14 | c.4454A>G (p.Glu1485Gly) c.4553A>G (p.Glu1518Gly) c.1442A>G (p.Glu481Gly) c.4430A>G (p.Glu1477Gly) c.359A>G (p.Glu120Gly) n.1732A>G c.4574A>G (p.Glu1525Gly) c.4550A>G (p.Glu1517Gly) c.4478A>G (p.Glu1493Gly) | |
19 | g.50286495A>T | CA406958791 | MYH14 | c.4454A>T (p.Glu1485Val) c.4553A>T (p.Glu1518Val) c.1442A>T (p.Glu481Val) c.4430A>T (p.Glu1477Val) c.359A>T (p.Glu120Val) n.1732A>T c.4574A>T (p.Glu1525Val) c.4550A>T (p.Glu1517Val) c.4478A>T (p.Glu1493Val) | |
19 | g.50286496G>A | CA508177941 | MYH14 | c.4455G>A (p.Glu1485=) c.4554G>A (p.Glu1518=) c.1443G>A (p.Glu481=) c.4431G>A (p.Glu1477=) c.360G>A (p.Glu120=) n.1733G>A c.4575G>A (p.Glu1525=) c.4551G>A (p.Glu1517=) c.4479G>A (p.Glu1493=) | |
19 | g.50286496G>C | CA406958792 | MYH14 | c.4455G>C (p.Glu1485Asp) c.4554G>C (p.Glu1518Asp) c.1443G>C (p.Glu481Asp) c.4431G>C (p.Glu1477Asp) c.360G>C (p.Glu120Asp) n.1733G>C c.4575G>C (p.Glu1525Asp) c.4551G>C (p.Glu1517Asp) c.4479G>C (p.Glu1493Asp) | dbSNP gnomAD v2 |
19 | g.50286496G= | CA2340825496 | MYH14 | c.4455G= (p.Glu1485=) c.4554G= (p.Glu1518=) c.1443G= (p.Glu481=) c.4431G= (p.Glu1477=) c.360G= (p.Glu120=) n.1733G= c.4575G= (p.Glu1525=) c.4551G= (p.Glu1517=) c.4479G= (p.Glu1493=) |