Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.50286549_50286570delinsGCCGGGAGCGTGAGGCTCGGGCCA2340825525MYH14c.4508_4529delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1503=)
c.4607_4628delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1536=)
c.1495_1516delinsGCCGGGAGCGTGAGGCTCGGGC (p.Ala499=)
c.4484_4505delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1495=)
c.413_434delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly138=)
n.1786_1807delinsGCCGGGAGCGTGAGGCTCGGGC
c.4628_4649delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1543=)
c.4604_4625delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1535=)
c.4532_4553delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1511=)
19g.50286552_50286572delCA2340825526MYH14c.4511_4531del (p.Arg1504_Ala1510del)
c.4610_4630del (p.Arg1537_Ala1543del)
c.1498_1518del (p.Gly500_Pro506del)
c.4487_4507del (p.Arg1496_Ala1502del)
c.416_436del (p.Arg139_Ala145del)
n.1789_1809del
c.4631_4651del (p.Arg1544_Ala1550del)
c.4607_4627del (p.Arg1536_Ala1542del)
c.4535_4555del (p.Arg1512_Ala1518del)
dbSNP
19g.50286559T>ACA406959018MYH14c.4518T>A (p.Arg1506=)
c.4617T>A (p.Arg1539=)
c.1505T>A (p.Val502Glu)
c.4494T>A (p.Arg1498=)
c.423T>A (p.Arg141=)
n.1796T>A
c.4638T>A (p.Arg1546=)
c.4614T>A (p.Arg1538=)
c.4542T>A (p.Arg1514=)
19g.50286559T>CCA406959020MYH14c.4518T>C (p.Arg1506=)
c.4617T>C (p.Arg1539=)
c.1505T>C (p.Val502Ala)
c.4494T>C (p.Arg1498=)
c.423T>C (p.Arg141=)
n.1796T>C
c.4638T>C (p.Arg1546=)
c.4614T>C (p.Arg1538=)
c.4542T>C (p.Arg1514=)
dbSNP gnomAD v4
19g.50286559T>GCA9593561MYH14c.4518T>G (p.Arg1506=)
c.4617T>G (p.Arg1539=)
c.1505T>G (p.Val502Gly)
c.4494T>G (p.Arg1498=)
c.423T>G (p.Arg141=)
n.1796T>G
c.4638T>G (p.Arg1546=)
c.4614T>G (p.Arg1538=)
c.4542T>G (p.Arg1514=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286559T=CA2340825533MYH14c.4518T= (p.Arg1506=)
c.4617T= (p.Arg1539=)
c.1505T= (p.Val502=)
c.4494T= (p.Arg1498=)
c.423T= (p.Arg141=)
n.1796T=
c.4638T= (p.Arg1546=)
c.4614T= (p.Arg1538=)
c.4542T= (p.Arg1514=)
19g.50286560G>ACA406959021MYH14c.4519G>A (p.Glu1507Lys)
c.4618G>A (p.Glu1540Lys)
c.1506G>A (p.Val502=)
c.4495G>A (p.Glu1499Lys)
c.424G>A (p.Glu142Lys)
n.1797G>A
c.4639G>A (p.Glu1547Lys)
c.4615G>A (p.Glu1539Lys)
c.4543G>A (p.Glu1515Lys)
19g.50286560G>CCA406959023MYH14c.4519G>C (p.Glu1507Gln)
c.4618G>C (p.Glu1540Gln)
c.1506G>C (p.Val502=)
c.4495G>C (p.Glu1499Gln)
c.424G>C (p.Glu142Gln)
n.1797G>C
c.4639G>C (p.Glu1547Gln)
c.4615G>C (p.Glu1539Gln)
c.4543G>C (p.Glu1515Gln)
19g.50286560G>TCA406959025MYH14c.4519G>T (p.Glu1507Ter)
c.4618G>T (p.Glu1540Ter)
c.1506G>T (p.Val502=)
c.4495G>T (p.Glu1499Ter)
c.424G>T (p.Glu142Ter)
n.1797G>T
c.4639G>T (p.Glu1547Ter)
c.4615G>T (p.Glu1539Ter)
c.4543G>T (p.Glu1515Ter)
19g.50286561A>CCA406959026MYH14c.4520A>C (p.Glu1507Ala)
c.4619A>C (p.Glu1540Ala)
c.1507A>C (p.Arg503=)
c.4496A>C (p.Glu1499Ala)
c.425A>C (p.Glu142Ala)
n.1798A>C
c.4640A>C (p.Glu1547Ala)
c.4616A>C (p.Glu1539Ala)
c.4544A>C (p.Glu1515Ala)
19g.50286561A>GCA406959028MYH14c.4520A>G (p.Glu1507Gly)
c.4619A>G (p.Glu1540Gly)
c.1507A>G (p.Arg503Gly)
c.4496A>G (p.Glu1499Gly)
c.425A>G (p.Glu142Gly)
n.1798A>G
c.4640A>G (p.Glu1547Gly)
c.4616A>G (p.Glu1539Gly)
c.4544A>G (p.Glu1515Gly)
19g.50286561A>TCA406959030MYH14c.4520A>T (p.Glu1507Val)
c.4619A>T (p.Glu1540Val)
c.1507A>T (p.Arg503Trp)
c.4496A>T (p.Glu1499Val)
c.425A>T (p.Glu142Val)
n.1798A>T
c.4640A>T (p.Glu1547Val)
c.4616A>T (p.Glu1539Val)
c.4544A>T (p.Glu1515Val)
19g.50286562G>ACA406959033MYH14c.4521G>A (p.Glu1507=)
c.4620G>A (p.Glu1540=)
c.1508G>A (p.Arg503Lys)
c.4497G>A (p.Glu1499=)
c.426G>A (p.Glu142=)
n.1799G>A
c.4641G>A (p.Glu1547=)
c.4617G>A (p.Glu1539=)
c.4545G>A (p.Glu1515=)
19g.50286562G>CCA406959035MYH14c.4521G>C (p.Glu1507Asp)
c.4620G>C (p.Glu1540Asp)
c.1508G>C (p.Arg503Thr)
c.4497G>C (p.Glu1499Asp)
c.426G>C (p.Glu142Asp)
n.1799G>C
c.4641G>C (p.Glu1547Asp)
c.4617G>C (p.Glu1539Asp)
c.4545G>C (p.Glu1515Asp)
19g.50286562G>TCA406959036MYH14c.4521G>T (p.Glu1507Asp)
c.4620G>T (p.Glu1540Asp)
c.1508G>T (p.Arg503Met)
c.4497G>T (p.Glu1499Asp)
c.426G>T (p.Glu142Asp)
n.1799G>T
c.4641G>T (p.Glu1547Asp)
c.4617G>T (p.Glu1539Asp)
c.4545G>T (p.Glu1515Asp)
19g.50286563G>ACA406959038MYH14c.4522G>A (p.Ala1508Thr)
c.4621G>A (p.Ala1541Thr)
c.1509G>A (p.Arg503=)
c.4498G>A (p.Ala1500Thr)
c.427G>A (p.Ala143Thr)
n.1800G>A
c.4642G>A (p.Ala1548Thr)
c.4618G>A (p.Ala1540Thr)
c.4546G>A (p.Ala1516Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.50286563G>CCA406959040MYH14c.4522G>C (p.Ala1508Pro)
c.4621G>C (p.Ala1541Pro)
c.1509G>C (p.Arg503Ser)
c.4498G>C (p.Ala1500Pro)
c.427G>C (p.Ala143Pro)
n.1800G>C
c.4642G>C (p.Ala1548Pro)
c.4618G>C (p.Ala1540Pro)
c.4546G>C (p.Ala1516Pro)
19g.50286563G=CA2340825534MYH14c.4522G= (p.Ala1508=)
c.4621G= (p.Ala1541=)
c.1509G= (p.Arg503=)
c.4498G= (p.Ala1500=)
c.427G= (p.Ala143=)
n.1800G=
c.4642G= (p.Ala1548=)
c.4618G= (p.Ala1540=)
c.4546G= (p.Ala1516=)
19g.50286563G>TCA406959042MYH14c.4522G>T (p.Ala1508Ser)
c.4621G>T (p.Ala1541Ser)
c.1509G>T (p.Arg503Ser)
c.4498G>T (p.Ala1500Ser)
c.427G>T (p.Ala143Ser)
n.1800G>T
c.4642G>T (p.Ala1548Ser)
c.4618G>T (p.Ala1540Ser)
c.4546G>T (p.Ala1516Ser)
dbSNP
19g.50286564C>ACA406959044MYH14c.4523C>A (p.Ala1508Asp)
c.4622C>A (p.Ala1541Asp)
c.1510C>A (p.Leu504Ile)
c.4499C>A (p.Ala1500Asp)
c.428C>A (p.Ala143Asp)
n.1801C>A
c.4643C>A (p.Ala1548Asp)
c.4619C>A (p.Ala1540Asp)
c.4547C>A (p.Ala1516Asp)
19g.50286564C=CA2340825535MYH14c.4523C= (p.Ala1508=)
c.4622C= (p.Ala1541=)
c.1510C= (p.Leu504=)
c.4499C= (p.Ala1500=)
c.428C= (p.Ala143=)
n.1801C=
c.4643C= (p.Ala1548=)
c.4619C= (p.Ala1540=)
c.4547C= (p.Ala1516=)
19g.50286564C>GCA406959048MYH14c.4523C>G (p.Ala1508Gly)
c.4622C>G (p.Ala1541Gly)
c.1510C>G (p.Leu504Val)
c.4499C>G (p.Ala1500Gly)
c.428C>G (p.Ala143Gly)
n.1801C>G
c.4643C>G (p.Ala1548Gly)
c.4619C>G (p.Ala1540Gly)
c.4547C>G (p.Ala1516Gly)
19g.50286564C>TCA406959046MYH14c.4523C>T (p.Ala1508Val)
c.4622C>T (p.Ala1541Val)
c.1510C>T (p.Leu504Phe)
c.4499C>T (p.Ala1500Val)
c.428C>T (p.Ala143Val)
n.1801C>T
c.4643C>T (p.Ala1548Val)
c.4619C>T (p.Ala1540Val)
c.4547C>T (p.Ala1516Val)
dbSNP gnomAD v4
19g.50286565T>ACA406959049MYH14c.4524T>A (p.Ala1508=)
c.4623T>A (p.Ala1541=)
c.1511T>A (p.Leu504His)
c.4500T>A (p.Ala1500=)
c.429T>A (p.Ala143=)
n.1802T>A
c.4644T>A (p.Ala1548=)
c.4620T>A (p.Ala1540=)
c.4548T>A (p.Ala1516=)
19g.50286565T>CCA406959051MYH14c.4524T>C (p.Ala1508=)
c.4623T>C (p.Ala1541=)
c.1511T>C (p.Leu504Pro)
c.4500T>C (p.Ala1500=)
c.429T>C (p.Ala143=)
n.1802T>C
c.4644T>C (p.Ala1548=)
c.4620T>C (p.Ala1540=)
c.4548T>C (p.Ala1516=)
19g.50286565T>GCA406959053MYH14c.4524T>G (p.Ala1508=)
c.4623T>G (p.Ala1541=)
c.1511T>G (p.Leu504Arg)
c.4500T>G (p.Ala1500=)
c.429T>G (p.Ala143=)
n.1802T>G
c.4644T>G (p.Ala1548=)
c.4620T>G (p.Ala1540=)
c.4548T>G (p.Ala1516=)
19g.50286566C>ACA508178003MYH14c.4525C>A (p.Arg1509=)
c.4624C>A (p.Arg1542=)
c.1512C>A (p.Leu504=)
c.4501C>A (p.Arg1501=)
c.430C>A (p.Arg144=)
n.1803C>A
c.4645C>A (p.Arg1549=)
c.4621C>A (p.Arg1541=)
c.4549C>A (p.Arg1517=)
gnomAD v4
19g.50286566C=CA2340825536MYH14c.4525C= (p.Arg1509=)
c.4624C= (p.Arg1542=)
c.1512C= (p.Leu504=)
c.4501C= (p.Arg1501=)
c.430C= (p.Arg144=)
n.1803C=
c.4645C= (p.Arg1549=)
c.4621C= (p.Arg1541=)
c.4549C= (p.Arg1517=)
19g.50286566C>GCA406959054MYH14c.4525C>G (p.Arg1509Gly)
c.4624C>G (p.Arg1542Gly)
c.1512C>G (p.Leu504=)
c.4501C>G (p.Arg1501Gly)
c.430C>G (p.Arg144Gly)
n.1803C>G
c.4645C>G (p.Arg1549Gly)
c.4621C>G (p.Arg1541Gly)
c.4549C>G (p.Arg1517Gly)
19g.50286566C>TCA309579815MYH14c.4525C>T (p.Arg1509Trp)
c.4624C>T (p.Arg1542Trp)
c.1512C>T (p.Leu504=)
c.4501C>T (p.Arg1501Trp)
c.430C>T (p.Arg144Trp)
n.1803C>T
c.4645C>T (p.Arg1549Trp)
c.4621C>T (p.Arg1541Trp)
c.4549C>T (p.Arg1517Trp)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.50286567G>ACA9593562MYH14c.4526G>A (p.Arg1509Gln)
c.4625G>A (p.Arg1542Gln)
c.1513G>A (p.Gly505Arg)
c.4502G>A (p.Arg1501Gln)
c.431G>A (p.Arg144Gln)
n.1804G>A
c.4646G>A (p.Arg1549Gln)
c.4622G>A (p.Arg1541Gln)
c.4550G>A (p.Arg1517Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286567G>CCA406959059MYH14c.4526G>C (p.Arg1509Pro)
c.4625G>C (p.Arg1542Pro)
c.1513G>C (p.Gly505Arg)
c.4502G>C (p.Arg1501Pro)
c.431G>C (p.Arg144Pro)
n.1804G>C
c.4646G>C (p.Arg1549Pro)
c.4622G>C (p.Arg1541Pro)
c.4550G>C (p.Arg1517Pro)
19g.50286567G=CA2340825537MYH14c.4526G= (p.Arg1509=)
c.4625G= (p.Arg1542=)
c.1513G= (p.Gly505=)
c.4502G= (p.Arg1501=)
c.431G= (p.Arg144=)
n.1804G=
c.4646G= (p.Arg1549=)
c.4622G= (p.Arg1541=)
c.4550G= (p.Arg1517=)
19g.50286567G>TCA406959061MYH14c.4526G>T (p.Arg1509Leu)
c.4625G>T (p.Arg1542Leu)
c.1513G>T (p.Gly505Trp)
c.4502G>T (p.Arg1501Leu)
c.431G>T (p.Arg144Leu)
n.1804G>T
c.4646G>T (p.Arg1549Leu)
c.4622G>T (p.Arg1541Leu)
c.4550G>T (p.Arg1517Leu)
dbSNP gnomAD v2 gnomAD v4
19g.50286569dupCA406959056MYH14c.4528dup (p.Ala1510GlyfsTer16)
c.4627dup (p.Ala1543GlyfsTer16)
c.1515dup (p.Pro506AlafsTer?)
c.4504dup (p.Ala1502GlyfsTer16)
c.433dup (p.Ala145GlyfsTer16)
n.1806dup
c.4648dup (p.Ala1550GlyfsTer16)
c.4624dup (p.Ala1542GlyfsTer16)
c.4552dup (p.Ala1518GlyfsTer16)
dbSNP
19g.50286568G>ACA9593563MYH14c.4527G>A (p.Arg1509=)
c.4626G>A (p.Arg1542=)
c.1514G>A (p.Gly505Glu)
c.4503G>A (p.Arg1501=)
c.432G>A (p.Arg144=)
n.1805G>A
c.4647G>A (p.Arg1549=)
c.4623G>A (p.Arg1541=)
c.4551G>A (p.Arg1517=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.50286568G>CCA406959064MYH14c.4527G>C (p.Arg1509=)
c.4626G>C (p.Arg1542=)
c.1514G>C (p.Gly505Ala)
c.4503G>C (p.Arg1501=)
c.432G>C (p.Arg144=)
n.1805G>C
c.4647G>C (p.Arg1549=)
c.4623G>C (p.Arg1541=)
c.4551G>C (p.Arg1517=)
19g.50286568G=CA2340825538MYH14c.4527G= (p.Arg1509=)
c.4626G= (p.Arg1542=)
c.1514G= (p.Gly505=)
c.4503G= (p.Arg1501=)
c.432G= (p.Arg144=)
n.1805G=
c.4647G= (p.Arg1549=)
c.4623G= (p.Arg1541=)
c.4551G= (p.Arg1517=)
19g.50286568G>TCA406959065MYH14c.4527G>T (p.Arg1509=)
c.4626G>T (p.Arg1542=)
c.1514G>T (p.Gly505Val)
c.4503G>T (p.Arg1501=)
c.432G>T (p.Arg144=)
n.1805G>T
c.4647G>T (p.Arg1549=)
c.4623G>T (p.Arg1541=)
c.4551G>T (p.Arg1517=)
dbSNP gnomAD v2
19g.50286569G>ACA406959069MYH14c.4528G>A (p.Ala1510Thr)
c.4627G>A (p.Ala1543Thr)
c.1515G>A (p.Gly505=)
c.4504G>A (p.Ala1502Thr)
c.433G>A (p.Ala145Thr)
n.1806G>A
c.4648G>A (p.Ala1550Thr)
c.4624G>A (p.Ala1542Thr)
c.4552G>A (p.Ala1518Thr)
ClinVar dbSNP COSMIC COSMIC
19g.50286569G>CCA406959071MYH14c.4528G>C (p.Ala1510Pro)
c.4627G>C (p.Ala1543Pro)
c.1515G>C (p.Gly505=)
c.4504G>C (p.Ala1502Pro)
c.433G>C (p.Ala145Pro)
n.1806G>C
c.4648G>C (p.Ala1550Pro)
c.4624G>C (p.Ala1542Pro)
c.4552G>C (p.Ala1518Pro)
19g.50286569G>TCA406959067MYH14c.4528G>T (p.Ala1510Ser)
c.4627G>T (p.Ala1543Ser)
c.1515G>T (p.Gly505=)
c.4504G>T (p.Ala1502Ser)
c.433G>T (p.Ala145Ser)
n.1806G>T
c.4648G>T (p.Ala1550Ser)
c.4624G>T (p.Ala1542Ser)
c.4552G>T (p.Ala1518Ser)
gnomAD v4
19g.50286570C>ACA406959074MYH14c.4529C>A (p.Ala1510Asp)
c.4628C>A (p.Ala1543Asp)
c.1516C>A (p.Pro506Thr)
c.4505C>A (p.Ala1502Asp)
c.434C>A (p.Ala145Asp)
n.1807C>A
c.4649C>A (p.Ala1550Asp)
c.4625C>A (p.Ala1542Asp)
c.4553C>A (p.Ala1518Asp)
gnomAD v4
19g.50286570C>GCA406959076MYH14c.4529C>G (p.Ala1510Gly)
c.4628C>G (p.Ala1543Gly)
c.1516C>G (p.Pro506Ala)
c.4505C>G (p.Ala1502Gly)
c.434C>G (p.Ala145Gly)
n.1807C>G
c.4649C>G (p.Ala1550Gly)
c.4625C>G (p.Ala1542Gly)
c.4553C>G (p.Ala1518Gly)
gnomAD v4
19g.50286570C>TCA406959077MYH14c.4529C>T (p.Ala1510Val)
c.4628C>T (p.Ala1543Val)
c.1516C>T (p.Pro506Ser)
c.4505C>T (p.Ala1502Val)
c.434C>T (p.Ala145Val)
n.1807C>T
c.4649C>T (p.Ala1550Val)
c.4625C>T (p.Ala1542Val)
c.4553C>T (p.Ala1518Val)
COSMIC COSMIC
19g.50286571C>ACA406959079MYH14c.4530C>A (p.Ala1510=)
c.4629C>A (p.Ala1543=)
c.1517C>A (p.Pro506His)
c.4506C>A (p.Ala1502=)
c.435C>A (p.Ala145=)
n.1808C>A
c.4650C>A (p.Ala1550=)
c.4626C>A (p.Ala1542=)
c.4554C>A (p.Ala1518=)
19g.50286571C>GCA406959081MYH14c.4530C>G (p.Ala1510=)
c.4629C>G (p.Ala1543=)
c.1517C>G (p.Pro506Arg)
c.4506C>G (p.Ala1502=)
c.435C>G (p.Ala145=)
n.1808C>G
c.4650C>G (p.Ala1550=)
c.4626C>G (p.Ala1542=)
c.4554C>G (p.Ala1518=)
19g.50286571C>TCA406959083MYH14c.4530C>T (p.Ala1510=)
c.4629C>T (p.Ala1543=)
c.1517C>T (p.Pro506Leu)
c.4506C>T (p.Ala1502=)
c.435C>T (p.Ala145=)
n.1808C>T
c.4650C>T (p.Ala1550=)
c.4626C>T (p.Ala1542=)
c.4554C>T (p.Ala1518=)
19g.50286572C>ACA406959085MYH14c.4531C>A (p.Leu1511Met)
c.4630C>A (p.Leu1544Met)
c.1518C>A (p.Pro506=)
c.4507C>A (p.Leu1503Met)
c.436C>A (p.Leu146Met)
n.1809C>A
c.4651C>A (p.Leu1551Met)
c.4627C>A (p.Leu1543Met)
c.4555C>A (p.Leu1519Met)
gnomAD v4
19g.50286572C=CA2340825539MYH14c.4531C= (p.Leu1511=)
c.4630C= (p.Leu1544=)
c.1518C= (p.Pro506=)
c.4507C= (p.Leu1503=)
c.436C= (p.Leu146=)
n.1809C=
c.4651C= (p.Leu1551=)
c.4627C= (p.Leu1543=)
c.4555C= (p.Leu1519=)

Number of alleles fetched