Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.50286481G>ACA406958758MYH14c.4441-1G>A (n.4441-1G>A)
c.4540-1G>A (n.4540-1G>A)
c.1429-1G>A (n.1429-1G>A)
c.4417-1G>A (n.4417-1G>A)
c.346-1G>A (n.346-1G>A)
n.1718G>A
c.4561-1G>A (n.4561-1G>A)
c.4537-1G>A (n.4537-1G>A)
c.4465-1G>A (n.4465-1G>A)
19g.50286481G>CCA406958759MYH14c.4441-1G>C (n.4441-1G>C)
c.4540-1G>C (n.4540-1G>C)
c.1429-1G>C (n.1429-1G>C)
c.4417-1G>C (n.4417-1G>C)
c.346-1G>C (n.346-1G>C)
n.1718G>C
c.4561-1G>C (n.4561-1G>C)
c.4537-1G>C (n.4537-1G>C)
c.4465-1G>C (n.4465-1G>C)
19g.50286481G>TCA406958760MYH14c.4441-1G>T (n.4441-1G>T)
c.4540-1G>T (n.4540-1G>T)
c.1429-1G>T (n.1429-1G>T)
c.4417-1G>T (n.4417-1G>T)
c.346-1G>T (n.346-1G>T)
n.1718G>T
c.4561-1G>T (n.4561-1G>T)
c.4537-1G>T (n.4537-1G>T)
c.4465-1G>T (n.4465-1G>T)
19g.50286482C>ACA406958761MYH14c.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)
19g.50286482C=CA2340825492MYH14c.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=)
19g.50286482C>GCA406958762MYH14c.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)
19g.50286482C>TCA406958763MYH14c.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
19g.50286483T>ACA406958764MYH14c.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)
19g.50286483T>CCA406958766MYH14c.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)
19g.50286483T>GCA406958765MYH14c.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)
19g.50286484T>ACA508177926MYH14c.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=)
19g.50286484T>CCA508177925MYH14c.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=)
19g.50286484T>GCA508177924MYH14c.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=)
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)

Number of alleles fetched