Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.50286485C>ACA406958767MYH14c.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)
19g.50286485C>GCA406958768MYH14c.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)
19g.50286485C>TCA508177927MYH14c.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=)
19g.50286486T>ACA406958769MYH14c.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)
19g.50286486T>CCA406958770MYH14c.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)
19g.50286486T>GCA406958771MYH14c.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)
19g.50286487G>ACA508177928MYH14c.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=)
19g.50286487G>CCA508177930MYH14c.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=)
19g.50286487G>TCA508177929MYH14c.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=)
19g.50286488G>ACA406958772MYH14c.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
19g.50286488G>CCA406958773MYH14c.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)
19g.50286488G>TCA406958774MYH14c.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
19g.50286489C>ACA406958775MYH14c.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)
19g.50286489C>GCA406958776MYH14c.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)
19g.50286489C>TCA406958777MYH14c.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
19g.50286490A>CCA508177931MYH14c.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=)
19g.50286490A>GCA508177932MYH14c.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=)
19g.50286490A>TCA508177933MYH14c.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=)
19g.50286490_50286493delinsAGAGCA2340825493MYH14c.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=)
19g.50286491G>ACA406958778MYH14c.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
19g.50286491G>CCA406958780MYH14c.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)
19g.50286491G>TCA406958779MYH14c.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)
19g.50286494_50286496delCA2340825494MYH14c.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
19g.50286492A>CCA406958781MYH14c.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)
19g.50286492A>GCA406958782MYH14c.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)
19g.50286492A>TCA406958783MYH14c.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)
19g.50286493G>ACA508177936MYH14c.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=)
19g.50286493G>CCA406958784MYH14c.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)
19g.50286493G>TCA406958785MYH14c.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)
19g.50286494G>ACA406958786MYH14c.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
19g.50286494G>CCA406958787MYH14c.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)
19g.50286494G>TCA406958788MYH14c.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)
19g.50286494_50286495delinsGACA2340825495MYH14c.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=)
19g.50286495delCA9593545MYH14c.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
19g.50286495A>CCA406958789MYH14c.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)
19g.50286495A>GCA406958790MYH14c.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)
19g.50286495A>TCA406958791MYH14c.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)
19g.50286496G>ACA508177941MYH14c.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=)
19g.50286496G>CCA406958792MYH14c.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
19g.50286496G=CA2340825496MYH14c.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=)
19g.50286496G>TCA406958793MYH14c.4455G>T (p.Glu1485Asp)
c.4554G>T (p.Glu1518Asp)
c.1443G>T (p.Glu481Asp)
c.4431G>T (p.Glu1477Asp)
c.360G>T (p.Glu120Asp)
n.1733G>T
c.4575G>T (p.Glu1525Asp)
c.4551G>T (p.Glu1517Asp)
c.4479G>T (p.Glu1493Asp)
19g.50286497A>CCA406958794MYH14c.4456A>C (p.Lys1486Gln)
c.4555A>C (p.Lys1519Gln)
c.1444A>C (p.Lys482Gln)
c.4432A>C (p.Lys1478Gln)
c.361A>C (p.Lys121Gln)
n.1734A>C
c.4576A>C (p.Lys1526Gln)
c.4552A>C (p.Lys1518Gln)
c.4480A>C (p.Lys1494Gln)
19g.50286497A>GCA406958795MYH14c.4456A>G (p.Lys1486Glu)
c.4555A>G (p.Lys1519Glu)
c.1444A>G (p.Lys482Glu)
c.4432A>G (p.Lys1478Glu)
c.361A>G (p.Lys121Glu)
n.1734A>G
c.4576A>G (p.Lys1526Glu)
c.4552A>G (p.Lys1518Glu)
c.4480A>G (p.Lys1494Glu)
19g.50286497A>TCA406958796MYH14c.4456A>T (p.Lys1486Ter)
c.4555A>T (p.Lys1519Ter)
c.1444A>T (p.Lys482Ter)
c.4432A>T (p.Lys1478Ter)
c.361A>T (p.Lys121Ter)
n.1734A>T
c.4576A>T (p.Lys1526Ter)
c.4552A>T (p.Lys1518Ter)
c.4480A>T (p.Lys1494Ter)
19g.50286498A>CCA406958797MYH14c.4457A>C (p.Lys1486Thr)
c.4556A>C (p.Lys1519Thr)
c.1445A>C (p.Lys482Thr)
c.4433A>C (p.Lys1478Thr)
c.362A>C (p.Lys121Thr)
n.1735A>C
c.4577A>C (p.Lys1526Thr)
c.4553A>C (p.Lys1518Thr)
c.4481A>C (p.Lys1494Thr)
19g.50286498A>GCA406958798MYH14c.4457A>G (p.Lys1486Arg)
c.4556A>G (p.Lys1519Arg)
c.1445A>G (p.Lys482Arg)
c.4433A>G (p.Lys1478Arg)
c.362A>G (p.Lys121Arg)
n.1735A>G
c.4577A>G (p.Lys1526Arg)
c.4553A>G (p.Lys1518Arg)
c.4481A>G (p.Lys1494Arg)
19g.50286498A>TCA406958799MYH14c.4457A>T (p.Lys1486Met)
c.4556A>T (p.Lys1519Met)
c.1445A>T (p.Lys482Met)
c.4433A>T (p.Lys1478Met)
c.362A>T (p.Lys121Met)
n.1735A>T
c.4577A>T (p.Lys1526Met)
c.4553A>T (p.Lys1518Met)
c.4481A>T (p.Lys1494Met)
19g.50286499G>ACA508177943MYH14c.4458G>A (p.Lys1486=)
c.4557G>A (p.Lys1519=)
c.1446G>A (p.Lys482=)
c.4434G>A (p.Lys1478=)
c.363G>A (p.Lys121=)
n.1736G>A
c.4578G>A (p.Lys1526=)
c.4554G>A (p.Lys1518=)
c.4482G>A (p.Lys1494=)
 dbSNP gnomAD v4
19g.50286499G>CCA406958800MYH14c.4458G>C (p.Lys1486Asn)
c.4557G>C (p.Lys1519Asn)
c.1446G>C (p.Lys482Asn)
c.4434G>C (p.Lys1478Asn)
c.363G>C (p.Lys121Asn)
n.1736G>C
c.4578G>C (p.Lys1526Asn)
c.4554G>C (p.Lys1518Asn)
c.4482G>C (p.Lys1494Asn)
19g.50286499G=CA2340825497MYH14c.4458G= (p.Lys1486=)
c.4557G= (p.Lys1519=)
c.1446G= (p.Lys482=)
c.4434G= (p.Lys1478=)
c.363G= (p.Lys121=)
n.1736G=
c.4578G= (p.Lys1526=)
c.4554G= (p.Lys1518=)
c.4482G= (p.Lys1494=)

Number of alleles fetched