Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.50286547G>ACA406958962MYH14c.4506G>A (p.Glu1502=)
c.4605G>A (p.Glu1535=)
c.1493G>A (p.Arg498Lys)
c.4482G>A (p.Glu1494=)
c.411G>A (p.Glu137=)
n.1784G>A
c.4626G>A (p.Glu1542=)
c.4602G>A (p.Glu1534=)
c.4530G>A (p.Glu1510=)
gnomAD v4
19g.50286547G>CCA406958963MYH14c.4506G>C (p.Glu1502Asp)
c.4605G>C (p.Glu1535Asp)
c.1493G>C (p.Arg498Thr)
c.4482G>C (p.Glu1494Asp)
c.411G>C (p.Glu137Asp)
n.1784G>C
c.4626G>C (p.Glu1542Asp)
c.4602G>C (p.Glu1534Asp)
c.4530G>C (p.Glu1510Asp)
19g.50286547G>TCA406958961MYH14c.4506G>T (p.Glu1502Asp)
c.4605G>T (p.Glu1535Asp)
c.1493G>T (p.Arg498Met)
c.4482G>T (p.Glu1494Asp)
c.411G>T (p.Glu137Asp)
n.1784G>T
c.4626G>T (p.Glu1542Asp)
c.4602G>T (p.Glu1534Asp)
c.4530G>T (p.Glu1510Asp)
19g.50286548G>ACA406958965MYH14c.4507G>A (p.Gly1503Ser)
c.4606G>A (p.Gly1536Ser)
c.1494G>A (p.Arg498=)
c.4483G>A (p.Gly1495Ser)
c.412G>A (p.Gly138Ser)
n.1785G>A
c.4627G>A (p.Gly1543Ser)
c.4603G>A (p.Gly1535Ser)
c.4531G>A (p.Gly1511Ser)
dbSNP gnomAD v4
19g.50286548G>CCA406958967MYH14c.4507G>C (p.Gly1503Arg)
c.4606G>C (p.Gly1536Arg)
c.1494G>C (p.Arg498Ser)
c.4483G>C (p.Gly1495Arg)
c.412G>C (p.Gly138Arg)
n.1785G>C
c.4627G>C (p.Gly1543Arg)
c.4603G>C (p.Gly1535Arg)
c.4531G>C (p.Gly1511Arg)
gnomAD v4
19g.50286548G=CA2340825524MYH14c.4507G= (p.Gly1503=)
c.4606G= (p.Gly1536=)
c.1494G= (p.Arg498=)
c.4483G= (p.Gly1495=)
c.412G= (p.Gly138=)
n.1785G=
c.4627G= (p.Gly1543=)
c.4603G= (p.Gly1535=)
c.4531G= (p.Gly1511=)
19g.50286548G>TCA406958968MYH14c.4507G>T (p.Gly1503Cys)
c.4606G>T (p.Gly1536Cys)
c.1494G>T (p.Arg498Ser)
c.4483G>T (p.Gly1495Cys)
c.412G>T (p.Gly138Cys)
n.1785G>T
c.4627G>T (p.Gly1543Cys)
c.4603G>T (p.Gly1535Cys)
c.4531G>T (p.Gly1511Cys)
19g.50286549G>ACA406958970MYH14c.4508G>A (p.Gly1503Asp)
c.4607G>A (p.Gly1536Asp)
c.1495G>A (p.Ala499Thr)
c.4484G>A (p.Gly1495Asp)
c.413G>A (p.Gly138Asp)
n.1786G>A
c.4628G>A (p.Gly1543Asp)
c.4604G>A (p.Gly1535Asp)
c.4532G>A (p.Gly1511Asp)
19g.50286549G>CCA406958971MYH14c.4508G>C (p.Gly1503Ala)
c.4607G>C (p.Gly1536Ala)
c.1495G>C (p.Ala499Pro)
c.4484G>C (p.Gly1495Ala)
c.413G>C (p.Gly138Ala)
n.1786G>C
c.4628G>C (p.Gly1543Ala)
c.4604G>C (p.Gly1535Ala)
c.4532G>C (p.Gly1511Ala)
19g.50286549G>TCA406958973MYH14c.4508G>T (p.Gly1503Val)
c.4607G>T (p.Gly1536Val)
c.1495G>T (p.Ala499Ser)
c.4484G>T (p.Gly1495Val)
c.413G>T (p.Gly138Val)
n.1786G>T
c.4628G>T (p.Gly1543Val)
c.4604G>T (p.Gly1535Val)
c.4532G>T (p.Gly1511Val)
gnomAD v4
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.50286550C>ACA406958975MYH14c.4509C>A (p.Gly1503=)
c.4608C>A (p.Gly1536=)
c.1496C>A (p.Ala499Asp)
c.4485C>A (p.Gly1495=)
c.414C>A (p.Gly138=)
n.1787C>A
c.4629C>A (p.Gly1543=)
c.4605C>A (p.Gly1535=)
c.4533C>A (p.Gly1511=)
19g.50286550C>GCA406958977MYH14c.4509C>G (p.Gly1503=)
c.4608C>G (p.Gly1536=)
c.1496C>G (p.Ala499Gly)
c.4485C>G (p.Gly1495=)
c.414C>G (p.Gly138=)
n.1787C>G
c.4629C>G (p.Gly1543=)
c.4605C>G (p.Gly1535=)
c.4533C>G (p.Gly1511=)
19g.50286550C>TCA406958976MYH14c.4509C>T (p.Gly1503=)
c.4608C>T (p.Gly1536=)
c.1496C>T (p.Ala499Val)
c.4485C>T (p.Gly1495=)
c.414C>T (p.Gly138=)
n.1787C>T
c.4629C>T (p.Gly1543=)
c.4605C>T (p.Gly1535=)
c.4533C>T (p.Gly1511=)
19g.50286551delCA2580097588MYH14c.4510del (p.Arg1504GlyfsTer10)
c.4609del (p.Arg1537GlyfsTer10)
c.1497del (p.Ser501AlafsTer2)
c.4486del (p.Arg1496GlyfsTer10)
c.415del (p.Arg139GlyfsTer10)
n.1788del
c.4630del (p.Arg1544GlyfsTer10)
c.4606del (p.Arg1536GlyfsTer10)
c.4534del (p.Arg1512GlyfsTer10)
ClinVar
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.50286551C>ACA508177999MYH14c.4510C>A (p.Arg1504=)
c.4609C>A (p.Arg1537=)
c.1497C>A (p.Ala499=)
c.4486C>A (p.Arg1496=)
c.415C>A (p.Arg139=)
n.1788C>A
c.4630C>A (p.Arg1544=)
c.4606C>A (p.Arg1536=)
c.4534C>A (p.Arg1512=)
19g.50286551C=CA2340825527MYH14c.4510C= (p.Arg1504=)
c.4609C= (p.Arg1537=)
c.1497C= (p.Ala499=)
c.4486C= (p.Arg1496=)
c.415C= (p.Arg139=)
n.1788C=
c.4630C= (p.Arg1544=)
c.4606C= (p.Arg1536=)
c.4534C= (p.Arg1512=)
19g.50286551C>GCA406958979MYH14c.4510C>G (p.Arg1504Gly)
c.4609C>G (p.Arg1537Gly)
c.1497C>G (p.Ala499=)
c.4486C>G (p.Arg1496Gly)
c.415C>G (p.Arg139Gly)
n.1788C>G
c.4630C>G (p.Arg1544Gly)
c.4606C>G (p.Arg1536Gly)
c.4534C>G (p.Arg1512Gly)
gnomAD v4
19g.50286551C>TCA9593556MYH14c.4510C>T (p.Arg1504Trp)
c.4609C>T (p.Arg1537Trp)
c.1497C>T (p.Ala499=)
c.4486C>T (p.Arg1496Trp)
c.415C>T (p.Arg139Trp)
n.1788C>T
c.4630C>T (p.Arg1544Trp)
c.4606C>T (p.Arg1536Trp)
c.4534C>T (p.Arg1512Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286552G>ACA9593557MYH14c.4511G>A (p.Arg1504Gln)
c.4610G>A (p.Arg1537Gln)
c.1498G>A (p.Gly500Arg)
c.4487G>A (p.Arg1496Gln)
c.416G>A (p.Arg139Gln)
n.1789G>A
c.4631G>A (p.Arg1544Gln)
c.4607G>A (p.Arg1536Gln)
c.4535G>A (p.Arg1512Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.50286552G>CCA406958982MYH14c.4511G>C (p.Arg1504Pro)
c.4610G>C (p.Arg1537Pro)
c.1498G>C (p.Gly500Arg)
c.4487G>C (p.Arg1496Pro)
c.416G>C (p.Arg139Pro)
n.1789G>C
c.4631G>C (p.Arg1544Pro)
c.4607G>C (p.Arg1536Pro)
c.4535G>C (p.Arg1512Pro)
19g.50286552G=CA2340825528MYH14c.4511G= (p.Arg1504=)
c.4610G= (p.Arg1537=)
c.1498G= (p.Gly500=)
c.4487G= (p.Arg1496=)
c.416G= (p.Arg139=)
n.1789G=
c.4631G= (p.Arg1544=)
c.4607G= (p.Arg1536=)
c.4535G= (p.Arg1512=)
19g.50286552G>TCA406958984MYH14c.4511G>T (p.Arg1504Leu)
c.4610G>T (p.Arg1537Leu)
c.1498G>T (p.Gly500Trp)
c.4487G>T (p.Arg1496Leu)
c.416G>T (p.Arg139Leu)
n.1789G>T
c.4631G>T (p.Arg1544Leu)
c.4607G>T (p.Arg1536Leu)
c.4535G>T (p.Arg1512Leu)
19g.50286553G>ACA406958989MYH14c.4512G>A (p.Arg1504=)
c.4611G>A (p.Arg1537=)
c.1499G>A (p.Gly500Glu)
c.4488G>A (p.Arg1496=)
c.417G>A (p.Arg139=)
n.1790G>A
c.4632G>A (p.Arg1544=)
c.4608G>A (p.Arg1536=)
c.4536G>A (p.Arg1512=)
dbSNP gnomAD v2
19g.50286553G>CCA406958991MYH14c.4512G>C (p.Arg1504=)
c.4611G>C (p.Arg1537=)
c.1499G>C (p.Gly500Ala)
c.4488G>C (p.Arg1496=)
c.417G>C (p.Arg139=)
n.1790G>C
c.4632G>C (p.Arg1544=)
c.4608G>C (p.Arg1536=)
c.4536G>C (p.Arg1512=)
19g.50286553G=CA2340825529MYH14c.4512G= (p.Arg1504=)
c.4611G= (p.Arg1537=)
c.1499G= (p.Gly500=)
c.4488G= (p.Arg1496=)
c.417G= (p.Arg139=)
n.1790G=
c.4632G= (p.Arg1544=)
c.4608G= (p.Arg1536=)
c.4536G= (p.Arg1512=)
19g.50286553G>TCA406958987MYH14c.4512G>T (p.Arg1504=)
c.4611G>T (p.Arg1537=)
c.1499G>T (p.Gly500Val)
c.4488G>T (p.Arg1496=)
c.417G>T (p.Arg139=)
n.1790G>T
c.4632G>T (p.Arg1544=)
c.4608G>T (p.Arg1536=)
c.4536G>T (p.Arg1512=)
19g.50286554G>ACA406958994MYH14c.4513G>A (p.Glu1505Lys)
c.4612G>A (p.Glu1538Lys)
c.1500G>A (p.Gly500=)
c.4489G>A (p.Glu1497Lys)
c.418G>A (p.Glu140Lys)
n.1791G>A
c.4633G>A (p.Glu1545Lys)
c.4609G>A (p.Glu1537Lys)
c.4537G>A (p.Glu1513Lys)
19g.50286554G>CCA406958996MYH14c.4513G>C (p.Glu1505Gln)
c.4612G>C (p.Glu1538Gln)
c.1500G>C (p.Gly500=)
c.4489G>C (p.Glu1497Gln)
c.418G>C (p.Glu140Gln)
n.1791G>C
c.4633G>C (p.Glu1545Gln)
c.4609G>C (p.Glu1537Gln)
c.4537G>C (p.Glu1513Gln)
19g.50286554G>TCA406958997MYH14c.4513G>T (p.Glu1505Ter)
c.4612G>T (p.Glu1538Ter)
c.1500G>T (p.Gly500=)
c.4489G>T (p.Glu1497Ter)
c.418G>T (p.Glu140Ter)
n.1791G>T
c.4633G>T (p.Glu1545Ter)
c.4609G>T (p.Glu1537Ter)
c.4537G>T (p.Glu1513Ter)
19g.50286555A>CCA406959000MYH14c.4514A>C (p.Glu1505Ala)
c.4613A>C (p.Glu1538Ala)
c.1501A>C (p.Ser501Arg)
c.4490A>C (p.Glu1497Ala)
c.419A>C (p.Glu140Ala)
n.1792A>C
c.4634A>C (p.Glu1545Ala)
c.4610A>C (p.Glu1537Ala)
c.4538A>C (p.Glu1513Ala)
19g.50286555A>GCA406959002MYH14c.4514A>G (p.Glu1505Gly)
c.4613A>G (p.Glu1538Gly)
c.1501A>G (p.Ser501Gly)
c.4490A>G (p.Glu1497Gly)
c.419A>G (p.Glu140Gly)
n.1792A>G
c.4634A>G (p.Glu1545Gly)
c.4610A>G (p.Glu1537Gly)
c.4538A>G (p.Glu1513Gly)
19g.50286555A>TCA406959003MYH14c.4514A>T (p.Glu1505Val)
c.4613A>T (p.Glu1538Val)
c.1501A>T (p.Ser501Cys)
c.4490A>T (p.Glu1497Val)
c.419A>T (p.Glu140Val)
n.1792A>T
c.4634A>T (p.Glu1545Val)
c.4610A>T (p.Glu1537Val)
c.4538A>T (p.Glu1513Val)
19g.50286556G>ACA9593558MYH14c.4515G>A (p.Glu1505=)
c.4614G>A (p.Glu1538=)
c.1502G>A (p.Ser501Asn)
c.4491G>A (p.Glu1497=)
c.420G>A (p.Glu140=)
n.1793G>A
c.4635G>A (p.Glu1545=)
c.4611G>A (p.Glu1537=)
c.4539G>A (p.Glu1513=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286556G>CCA406959005MYH14c.4515G>C (p.Glu1505Asp)
c.4614G>C (p.Glu1538Asp)
c.1502G>C (p.Ser501Thr)
c.4491G>C (p.Glu1497Asp)
c.420G>C (p.Glu140Asp)
n.1793G>C
c.4635G>C (p.Glu1545Asp)
c.4611G>C (p.Glu1537Asp)
c.4539G>C (p.Glu1513Asp)
dbSNP gnomAD v3 gnomAD v4
19g.50286556G=CA2340825530MYH14c.4515G= (p.Glu1505=)
c.4614G= (p.Glu1538=)
c.1502G= (p.Ser501=)
c.4491G= (p.Glu1497=)
c.420G= (p.Glu140=)
n.1793G=
c.4635G= (p.Glu1545=)
c.4611G= (p.Glu1537=)
c.4539G= (p.Glu1513=)
19g.50286556G>TCA406959007MYH14c.4515G>T (p.Glu1505Asp)
c.4614G>T (p.Glu1538Asp)
c.1502G>T (p.Ser501Ile)
c.4491G>T (p.Glu1497Asp)
c.420G>T (p.Glu140Asp)
n.1793G>T
c.4635G>T (p.Glu1545Asp)
c.4611G>T (p.Glu1537Asp)
c.4539G>T (p.Glu1513Asp)
19g.50286557C>ACA406959009MYH14c.4516C>A (p.Arg1506Ser)
c.4615C>A (p.Arg1539Ser)
c.1503C>A (p.Ser501Arg)
c.4492C>A (p.Arg1498Ser)
c.421C>A (p.Arg141Ser)
n.1794C>A
c.4636C>A (p.Arg1546Ser)
c.4612C>A (p.Arg1538Ser)
c.4540C>A (p.Arg1514Ser)
19g.50286557C=CA2340825531MYH14c.4516C= (p.Arg1506=)
c.4615C= (p.Arg1539=)
c.1503C= (p.Ser501=)
c.4492C= (p.Arg1498=)
c.421C= (p.Arg141=)
n.1794C=
c.4636C= (p.Arg1546=)
c.4612C= (p.Arg1538=)
c.4540C= (p.Arg1514=)
19g.50286557C>GCA406959011MYH14c.4516C>G (p.Arg1506Gly)
c.4615C>G (p.Arg1539Gly)
c.1503C>G (p.Ser501Arg)
c.4492C>G (p.Arg1498Gly)
c.421C>G (p.Arg141Gly)
n.1794C>G
c.4636C>G (p.Arg1546Gly)
c.4612C>G (p.Arg1538Gly)
c.4540C>G (p.Arg1514Gly)
gnomAD v4
19g.50286557C>TCA9593559MYH14c.4516C>T (p.Arg1506Cys)
c.4615C>T (p.Arg1539Cys)
c.1503C>T (p.Ser501=)
c.4492C>T (p.Arg1498Cys)
c.421C>T (p.Arg141Cys)
n.1794C>T
c.4636C>T (p.Arg1546Cys)
c.4612C>T (p.Arg1538Cys)
c.4540C>T (p.Arg1514Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286558G>ACA9593560MYH14c.4517G>A (p.Arg1506His)
c.4616G>A (p.Arg1539His)
c.1504G>A (p.Val502Met)
c.4493G>A (p.Arg1498His)
c.422G>A (p.Arg141His)
n.1795G>A
c.4637G>A (p.Arg1546His)
c.4613G>A (p.Arg1538His)
c.4541G>A (p.Arg1514His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286558G>CCA406959015MYH14c.4517G>C (p.Arg1506Pro)
c.4616G>C (p.Arg1539Pro)
c.1504G>C (p.Val502Leu)
c.4493G>C (p.Arg1498Pro)
c.422G>C (p.Arg141Pro)
n.1795G>C
c.4637G>C (p.Arg1546Pro)
c.4613G>C (p.Arg1538Pro)
c.4541G>C (p.Arg1514Pro)
19g.50286558G=CA2340825532MYH14c.4517G= (p.Arg1506=)
c.4616G= (p.Arg1539=)
c.1504G= (p.Val502=)
c.4493G= (p.Arg1498=)
c.422G= (p.Arg141=)
n.1795G=
c.4637G= (p.Arg1546=)
c.4613G= (p.Arg1538=)
c.4541G= (p.Arg1514=)
19g.50286558G>TCA406959016MYH14c.4517G>T (p.Arg1506Leu)
c.4616G>T (p.Arg1539Leu)
c.1504G>T (p.Val502Leu)
c.4493G>T (p.Arg1498Leu)
c.422G>T (p.Arg141Leu)
n.1795G>T
c.4637G>T (p.Arg1546Leu)
c.4613G>T (p.Arg1538Leu)
c.4541G>T (p.Arg1514Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
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)
ClinVar 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=)
19g.50286572C>GCA406959087MYH14c.4531C>G (p.Leu1511Val)
c.4630C>G (p.Leu1544Val)
c.1518C>G (p.Pro506=)
c.4507C>G (p.Leu1503Val)
c.436C>G (p.Leu146Val)
n.1809C>G
c.4651C>G (p.Leu1551Val)
c.4627C>G (p.Leu1543Val)
c.4555C>G (p.Leu1519Val)
19g.50286572C>TCA508178004MYH14c.4531C>T (p.Leu1511=)
c.4630C>T (p.Leu1544=)
c.1518C>T (p.Pro506=)
c.4507C>T (p.Leu1503=)
c.436C>T (p.Leu146=)
n.1809C>T
c.4651C>T (p.Leu1551=)
c.4627C>T (p.Leu1543=)
c.4555C>T (p.Leu1519=)
dbSNP gnomAD v3 gnomAD v4
19g.50286572_50286573insGCA2576861750MYH14c.4531_4532insG (p.Leu1511ArgfsTer15)
c.4630_4631insG (p.Leu1544ArgfsTer15)
c.1518_1519insG (p.Cys507ValfsTer?)
c.4507_4508insG (p.Leu1503ArgfsTer15)
c.436_437insG (p.Leu146ArgfsTer15)
n.1809_1810insG
c.4651_4652insG (p.Leu1551ArgfsTer15)
c.4627_4628insG (p.Leu1543ArgfsTer15)
c.4555_4556insG (p.Leu1519ArgfsTer15)
19g.50286573T>ACA406959089MYH14c.4532T>A (p.Leu1511Gln)
c.4631T>A (p.Leu1544Gln)
c.1519T>A (p.Cys507Ser)
c.4508T>A (p.Leu1503Gln)
c.437T>A (p.Leu146Gln)
n.1810T>A
c.4652T>A (p.Leu1551Gln)
c.4628T>A (p.Leu1543Gln)
c.4556T>A (p.Leu1519Gln)
19g.50286573T>CCA406959091MYH14c.4532T>C (p.Leu1511Pro)
c.4631T>C (p.Leu1544Pro)
c.1519T>C (p.Cys507Arg)
c.4508T>C (p.Leu1503Pro)
c.437T>C (p.Leu146Pro)
n.1810T>C
c.4652T>C (p.Leu1551Pro)
c.4628T>C (p.Leu1543Pro)
c.4556T>C (p.Leu1519Pro)
dbSNP
19g.50286573T>GCA406959093MYH14c.4532T>G (p.Leu1511Arg)
c.4631T>G (p.Leu1544Arg)
c.1519T>G (p.Cys507Gly)
c.4508T>G (p.Leu1503Arg)
c.437T>G (p.Leu146Arg)
n.1810T>G
c.4652T>G (p.Leu1551Arg)
c.4628T>G (p.Leu1543Arg)
c.4556T>G (p.Leu1519Arg)
19g.50286573T=CA2340825540MYH14c.4532T= (p.Leu1511=)
c.4631T= (p.Leu1544=)
c.1519T= (p.Cys507=)
c.4508T= (p.Leu1503=)
c.437T= (p.Leu146=)
n.1810T=
c.4652T= (p.Leu1551=)
c.4628T= (p.Leu1543=)
c.4556T= (p.Leu1519=)
19g.50286574G>ACA406959095MYH14c.4533G>A (p.Leu1511=)
c.4632G>A (p.Leu1544=)
c.1520G>A (p.Cys507Tyr)
c.4509G>A (p.Leu1503=)
c.438G>A (p.Leu146=)
n.1811G>A
c.4653G>A (p.Leu1551=)
c.4629G>A (p.Leu1543=)
c.4557G>A (p.Leu1519=)
dbSNP gnomAD v2 gnomAD v4
19g.50286574G>CCA406959097MYH14c.4533G>C (p.Leu1511=)
c.4632G>C (p.Leu1544=)
c.1520G>C (p.Cys507Ser)
c.4509G>C (p.Leu1503=)
c.438G>C (p.Leu146=)
n.1811G>C
c.4653G>C (p.Leu1551=)
c.4629G>C (p.Leu1543=)
c.4557G>C (p.Leu1519=)
19g.50286574G=CA2340825541MYH14c.4533G= (p.Leu1511=)
c.4632G= (p.Leu1544=)
c.1520G= (p.Cys507=)
c.4509G= (p.Leu1503=)
c.438G= (p.Leu146=)
n.1811G=
c.4653G= (p.Leu1551=)
c.4629G= (p.Leu1543=)
c.4557G= (p.Leu1519=)
19g.50286574G>TCA406959099MYH14c.4533G>T (p.Leu1511=)
c.4632G>T (p.Leu1544=)
c.1520G>T (p.Cys507Phe)
c.4509G>T (p.Leu1503=)
c.438G>T (p.Leu146=)
n.1811G>T
c.4653G>T (p.Leu1551=)
c.4629G>T (p.Leu1543=)
c.4557G>T (p.Leu1519=)
COSMIC COSMIC
19g.50286575T>ACA406959105MYH14c.4534T>A (p.Ser1512Thr)
c.4633T>A (p.Ser1545Thr)
c.1521T>A (p.Cys507Ter)
c.4510T>A (p.Ser1504Thr)
c.439T>A (p.Ser147Thr)
n.1812T>A
c.4654T>A (p.Ser1552Thr)
c.4630T>A (p.Ser1544Thr)
c.4558T>A (p.Ser1520Thr)
19g.50286575T>CCA406959103MYH14c.4534T>C (p.Ser1512Pro)
c.4633T>C (p.Ser1545Pro)
c.1521T>C (p.Cys507=)
c.4510T>C (p.Ser1504Pro)
c.439T>C (p.Ser147Pro)
n.1812T>C
c.4654T>C (p.Ser1552Pro)
c.4630T>C (p.Ser1544Pro)
c.4558T>C (p.Ser1520Pro)
19g.50286575T>GCA406959101MYH14c.4534T>G (p.Ser1512Ala)
c.4633T>G (p.Ser1545Ala)
c.1521T>G (p.Cys507Trp)
c.4510T>G (p.Ser1504Ala)
c.439T>G (p.Ser147Ala)
n.1812T>G
c.4654T>G (p.Ser1552Ala)
c.4630T>G (p.Ser1544Ala)
c.4558T>G (p.Ser1520Ala)
19g.50286576C>ACA406959108MYH14c.4535C>A (p.Ser1512Ter)
c.4634C>A (p.Ser1545Ter)
c.1522C>A (p.His508Asn)
c.4511C>A (p.Ser1504Ter)
c.440C>A (p.Ser147Ter)
n.1813C>A
c.4655C>A (p.Ser1552Ter)
c.4631C>A (p.Ser1544Ter)
c.4559C>A (p.Ser1520Ter)
gnomAD v4
19g.50286576C=CA2340825542MYH14c.4535C= (p.Ser1512=)
c.4634C= (p.Ser1545=)
c.1522C= (p.His508=)
c.4511C= (p.Ser1504=)
c.440C= (p.Ser147=)
n.1813C=
c.4655C= (p.Ser1552=)
c.4631C= (p.Ser1544=)
c.4559C= (p.Ser1520=)
19g.50286576C>GCA406959107MYH14c.4535C>G (p.Ser1512Ter)
c.4634C>G (p.Ser1545Ter)
c.1522C>G (p.His508Asp)
c.4511C>G (p.Ser1504Ter)
c.440C>G (p.Ser147Ter)
n.1813C>G
c.4655C>G (p.Ser1552Ter)
c.4631C>G (p.Ser1544Ter)
c.4559C>G (p.Ser1520Ter)
19g.50286576C>TCA9593564MYH14c.4535C>T (p.Ser1512Leu)
c.4634C>T (p.Ser1545Leu)
c.1522C>T (p.His508Tyr)
c.4511C>T (p.Ser1504Leu)
c.440C>T (p.Ser147Leu)
n.1813C>T
c.4655C>T (p.Ser1552Leu)
c.4631C>T (p.Ser1544Leu)
c.4559C>T (p.Ser1520Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.50286577A>CCA406959111MYH14c.4536A>C (p.Ser1512=)
c.4635A>C (p.Ser1545=)
c.1523A>C (p.His508Pro)
c.4512A>C (p.Ser1504=)
c.441A>C (p.Ser147=)
n.1814A>C
c.4656A>C (p.Ser1552=)
c.4632A>C (p.Ser1544=)
c.4560A>C (p.Ser1520=)
19g.50286577A>GCA406959113MYH14c.4536A>G (p.Ser1512=)
c.4635A>G (p.Ser1545=)
c.1523A>G (p.His508Arg)
c.4512A>G (p.Ser1504=)
c.441A>G (p.Ser147=)
n.1814A>G
c.4656A>G (p.Ser1552=)
c.4632A>G (p.Ser1544=)
c.4560A>G (p.Ser1520=)
19g.50286577A>TCA406959112MYH14c.4536A>T (p.Ser1512=)
c.4635A>T (p.Ser1545=)
c.1523A>T (p.His508Leu)
c.4512A>T (p.Ser1504=)
c.441A>T (p.Ser147=)
n.1814A>T
c.4656A>T (p.Ser1552=)
c.4632A>T (p.Ser1544=)
c.4560A>T (p.Ser1520=)
19g.50286578C>ACA406959115MYH14c.4537C>A (p.Leu1513Met)
c.4636C>A (p.Leu1546Met)
c.1524C>A (p.His508Gln)
c.4513C>A (p.Leu1505Met)
c.442C>A (p.Leu148Met)
n.1815C>A
c.4657C>A (p.Leu1553Met)
c.4633C>A (p.Leu1545Met)
c.4561C>A (p.Leu1521Met)
19g.50286578C=CA2340825543MYH14c.4537C= (p.Leu1513=)
c.4636C= (p.Leu1546=)
c.1524C= (p.His508=)
c.4513C= (p.Leu1505=)
c.442C= (p.Leu148=)
n.1815C=
c.4657C= (p.Leu1553=)
c.4633C= (p.Leu1545=)
c.4561C= (p.Leu1521=)
19g.50286578C>GCA406959118MYH14c.4537C>G (p.Leu1513Val)
c.4636C>G (p.Leu1546Val)
c.1524C>G (p.His508Gln)
c.4513C>G (p.Leu1505Val)
c.442C>G (p.Leu148Val)
n.1815C>G
c.4657C>G (p.Leu1553Val)
c.4633C>G (p.Leu1545Val)
c.4561C>G (p.Leu1521Val)
19g.50286578C>TCA508178006MYH14c.4537C>T (p.Leu1513=)
c.4636C>T (p.Leu1546=)
c.1524C>T (p.His508=)
c.4513C>T (p.Leu1505=)
c.442C>T (p.Leu148=)
n.1815C>T
c.4657C>T (p.Leu1553=)
c.4633C>T (p.Leu1545=)
c.4561C>T (p.Leu1521=)
dbSNP
19g.50286579delCA2576861751MYH14c.4538del (p.Leu1513ArgfsTer30)
c.4637del (p.Leu1546ArgfsTer30)
c.1525del (p.Ter509AspextTer12)
c.4514del (p.Leu1505ArgfsTer30)
c.443del (p.Leu148ArgfsTer30)
n.1816del
c.4658del (p.Leu1553ArgfsTer30)
c.4634del (p.Leu1545ArgfsTer30)
c.4562del (p.Leu1521ArgfsTer30)
19g.50286579T>ACA406959120MYH14c.4538T>A (p.Leu1513Gln)
c.4637T>A (p.Leu1546Gln)
c.1525T>A (p.Ter509Arg)
c.4514T>A (p.Leu1505Gln)
c.443T>A (p.Leu148Gln)
n.1816T>A
c.4658T>A (p.Leu1553Gln)
c.4634T>A (p.Leu1545Gln)
c.4562T>A (p.Leu1521Gln)
19g.50286579T>CCA406959122MYH14c.4538T>C (p.Leu1513Pro)
c.4637T>C (p.Leu1546Pro)
c.1525T>C (p.Ter509Arg)
c.4514T>C (p.Leu1505Pro)
c.443T>C (p.Leu148Pro)
n.1816T>C
c.4658T>C (p.Leu1553Pro)
c.4634T>C (p.Leu1545Pro)
c.4562T>C (p.Leu1521Pro)
19g.50286579T>GCA406959124MYH14c.4538T>G (p.Leu1513Arg)
c.4637T>G (p.Leu1546Arg)
c.1525T>G (p.Ter509Gly)
c.4514T>G (p.Leu1505Arg)
c.443T>G (p.Leu148Arg)
n.1816T>G
c.4658T>G (p.Leu1553Arg)
c.4634T>G (p.Leu1545Arg)
c.4562T>G (p.Leu1521Arg)
19g.50286580G>ACA508178007MYH14c.4539G>A (p.Leu1513=)
c.4638G>A (p.Leu1546=)
c.1526G>A (p.Ter509=)
c.4515G>A (p.Leu1505=)
c.444G>A (p.Leu148=)
n.1817G>A
c.4659G>A (p.Leu1553=)
c.4635G>A (p.Leu1545=)
c.4563G>A (p.Leu1521=)
19g.50286580G>CCA406959126MYH14c.4539G>C (p.Leu1513=)
c.4638G>C (p.Leu1546=)
c.1526G>C (p.Ter509Ser)
c.4515G>C (p.Leu1505=)
c.444G>C (p.Leu148=)
n.1817G>C
c.4659G>C (p.Leu1553=)
c.4635G>C (p.Leu1545=)
c.4563G>C (p.Leu1521=)
19g.50286580G>TCA406959127MYH14c.4539G>T (p.Leu1513=)
c.4638G>T (p.Leu1546=)
c.1526G>T (p.Ter509Leu)
c.4515G>T (p.Leu1505=)
c.444G>T (p.Leu148=)
n.1817G>T
c.4659G>T (p.Leu1553=)
c.4635G>T (p.Leu1545=)
c.4563G>T (p.Leu1521=)
19g.50286581A>CCA406959133MYH14c.4540A>C (p.Thr1514Pro)
c.4639A>C (p.Thr1547Pro)
c.1527A>C (p.Ter509Cys)
c.4516A>C (p.Thr1506Pro)
c.445A>C (p.Thr149Pro)
n.1818A>C
c.4660A>C (p.Thr1554Pro)
c.4636A>C (p.Thr1546Pro)
c.4564A>C (p.Thr1522Pro)
19g.50286581A>GCA406959129MYH14c.4540A>G (p.Thr1514Ala)
c.4639A>G (p.Thr1547Ala)
c.1527A>G (p.Ter509Trp)
c.4516A>G (p.Thr1506Ala)
c.445A>G (p.Thr149Ala)
n.1818A>G
c.4660A>G (p.Thr1554Ala)
c.4636A>G (p.Thr1546Ala)
c.4564A>G (p.Thr1522Ala)
19g.50286581A>TCA406959131MYH14c.4540A>T (p.Thr1514Ser)
c.4639A>T (p.Thr1547Ser)
c.1527A>T (p.Ter509Cys)
c.4516A>T (p.Thr1506Ser)
c.445A>T (p.Thr149Ser)
n.1818A>T
c.4660A>T (p.Thr1554Ser)
c.4636A>T (p.Thr1546Ser)
c.4564A>T (p.Thr1522Ser)
19g.50286582C>ACA406959135MYH14c.4541C>A (p.Thr1514Lys)
c.4640C>A (p.Thr1547Lys)
c.*1C>A (n.*1C>A)
c.4517C>A (p.Thr1506Lys)
c.446C>A (p.Thr149Lys)
n.1819C>A
c.4661C>A (p.Thr1554Lys)
c.4637C>A (p.Thr1546Lys)
c.4565C>A (p.Thr1522Lys)
gnomAD v4
19g.50286582C>GCA406959136MYH14c.4541C>G (p.Thr1514Arg)
c.4640C>G (p.Thr1547Arg)
c.*1C>G (n.*1C>G)
c.4517C>G (p.Thr1506Arg)
c.446C>G (p.Thr149Arg)
n.1819C>G
c.4661C>G (p.Thr1554Arg)
c.4637C>G (p.Thr1546Arg)
c.4565C>G (p.Thr1522Arg)
COSMIC
19g.50286582C>TCA406959138MYH14c.4541C>T (p.Thr1514Ile)
c.4640C>T (p.Thr1547Ile)
c.*1C>T (n.*1C>T)
c.4517C>T (p.Thr1506Ile)
c.446C>T (p.Thr149Ile)
n.1819C>T
c.4661C>T (p.Thr1554Ile)
c.4637C>T (p.Thr1546Ile)
c.4565C>T (p.Thr1522Ile)
gnomAD v4
19g.50286583A>CCA508178008MYH14c.4542A>C (p.Thr1514=)
c.4641A>C (p.Thr1547=)
c.*2A>C (n.*2A>C)
c.4518A>C (p.Thr1506=)
c.447A>C (p.Thr149=)
n.1820A>C
c.4662A>C (p.Thr1554=)
c.4638A>C (p.Thr1546=)
c.4566A>C (p.Thr1522=)
19g.50286583A>GCA508178010MYH14c.4542A>G (p.Thr1514=)
c.4641A>G (p.Thr1547=)
c.*2A>G (n.*2A>G)
c.4518A>G (p.Thr1506=)
c.447A>G (p.Thr149=)
n.1820A>G
c.4662A>G (p.Thr1554=)
c.4638A>G (p.Thr1546=)
c.4566A>G (p.Thr1522=)
gnomAD v4
19g.50286583A>TCA508178009MYH14c.4542A>T (p.Thr1514=)
c.4641A>T (p.Thr1547=)
c.*2A>T (n.*2A>T)
c.4518A>T (p.Thr1506=)
c.447A>T (p.Thr149=)
n.1820A>T
c.4662A>T (p.Thr1554=)
c.4638A>T (p.Thr1546=)
c.4566A>T (p.Thr1522=)
19g.50286584delCA2576861752MYH14c.4543del (p.Arg1515GlyfsTer28)
c.4642del (p.Arg1548GlyfsTer28)
c.*3del (n.*3del)
c.4519del (p.Arg1507GlyfsTer28)
c.448del (p.Arg150GlyfsTer28)
n.1821del
c.4663del (p.Arg1555GlyfsTer28)
c.4639del (p.Arg1547GlyfsTer28)
c.4567del (p.Arg1523GlyfsTer28)
19g.50286584C>ACA508178011MYH14c.4543C>A (p.Arg1515=)
c.4642C>A (p.Arg1548=)
c.*3C>A (n.*3C>A)
c.4519C>A (p.Arg1507=)
c.448C>A (p.Arg150=)
n.1821C>A
c.4663C>A (p.Arg1555=)
c.4639C>A (p.Arg1547=)
c.4567C>A (p.Arg1523=)
gnomAD v4
19g.50286584C=CA2340825544MYH14c.4543C= (p.Arg1515=)
c.4642C= (p.Arg1548=)
c.*3C= (n.*3C=)
c.4519C= (p.Arg1507=)
c.448C= (p.Arg150=)
n.1821C=
c.4663C= (p.Arg1555=)
c.4639C= (p.Arg1547=)
c.4567C= (p.Arg1523=)
19g.50286584C>GCA406959140MYH14c.4543C>G (p.Arg1515Gly)
c.4642C>G (p.Arg1548Gly)
c.*3C>G (n.*3C>G)
c.4519C>G (p.Arg1507Gly)
c.448C>G (p.Arg150Gly)
n.1821C>G
c.4663C>G (p.Arg1555Gly)
c.4639C>G (p.Arg1547Gly)
c.4567C>G (p.Arg1523Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.50286584C>TCA309579839MYH14c.4543C>T (p.Arg1515Trp)
c.4642C>T (p.Arg1548Trp)
c.*3C>T (n.*3C>T)
c.4519C>T (p.Arg1507Trp)
c.448C>T (p.Arg150Trp)
n.1821C>T
c.4663C>T (p.Arg1555Trp)
c.4639C>T (p.Arg1547Trp)
c.4567C>T (p.Arg1523Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.50286585G>ACA406959142MYH14c.4544G>A (p.Arg1515Gln)
c.4643G>A (p.Arg1548Gln)
c.*4G>A (n.*4G>A)
c.4520G>A (p.Arg1507Gln)
c.449G>A (p.Arg150Gln)
n.1822G>A
c.4664G>A (p.Arg1555Gln)
c.4640G>A (p.Arg1547Gln)
c.4568G>A (p.Arg1523Gln)
dbSNP gnomAD v4 COSMIC COSMIC
19g.50286585G>CCA406959146MYH14c.4544G>C (p.Arg1515Pro)
c.4643G>C (p.Arg1548Pro)
c.*4G>C (n.*4G>C)
c.4520G>C (p.Arg1507Pro)
c.449G>C (p.Arg150Pro)
n.1822G>C
c.4664G>C (p.Arg1555Pro)
c.4640G>C (p.Arg1547Pro)
c.4568G>C (p.Arg1523Pro)
19g.50286585G=CA2340825545MYH14c.4544G= (p.Arg1515=)
c.4643G= (p.Arg1548=)
c.*4G= (n.*4G=)
c.4520G= (p.Arg1507=)
c.449G= (p.Arg150=)
n.1822G=
c.4664G= (p.Arg1555=)
c.4640G= (p.Arg1547=)
c.4568G= (p.Arg1523=)
19g.50286585G>TCA406959144MYH14c.4544G>T (p.Arg1515Leu)
c.4643G>T (p.Arg1548Leu)
c.*4G>T (n.*4G>T)
c.4520G>T (p.Arg1507Leu)
c.449G>T (p.Arg150Leu)
n.1822G>T
c.4664G>T (p.Arg1555Leu)
c.4640G>T (p.Arg1547Leu)
c.4568G>T (p.Arg1523Leu)
19g.50286586G>ACA508178012MYH14c.4545G>A (p.Arg1515=)
c.4644G>A (p.Arg1548=)
c.*5G>A (n.*5G>A)
c.4521G>A (p.Arg1507=)
c.450G>A (p.Arg150=)
n.1823G>A
c.4665G>A (p.Arg1555=)
c.4641G>A (p.Arg1547=)
c.4569G>A (p.Arg1523=)
19g.50286586G>CCA508178013MYH14c.4545G>C (p.Arg1515=)
c.4644G>C (p.Arg1548=)
c.*5G>C (n.*5G>C)
c.4521G>C (p.Arg1507=)
c.450G>C (p.Arg150=)
n.1823G>C
c.4665G>C (p.Arg1555=)
c.4641G>C (p.Arg1547=)
c.4569G>C (p.Arg1523=)
19g.50286586G>TCA508178014MYH14c.4545G>T (p.Arg1515=)
c.4644G>T (p.Arg1548=)
c.*5G>T (n.*5G>T)
c.4521G>T (p.Arg1507=)
c.450G>T (p.Arg150=)
n.1823G>T
c.4665G>T (p.Arg1555=)
c.4641G>T (p.Arg1547=)
c.4569G>T (p.Arg1523=)
19g.50286587G>ACA406959147MYH14c.4546G>A (p.Ala1516Thr)
c.4645G>A (p.Ala1549Thr)
c.*6G>A (n.*6G>A)
c.4522G>A (p.Ala1508Thr)
c.451G>A (p.Ala151Thr)
n.1824G>A
c.4666G>A (p.Ala1556Thr)
c.4642G>A (p.Ala1548Thr)
c.4570G>A (p.Ala1524Thr)
ClinVar dbSNP gnomAD v4
19g.50286587G>CCA406959148MYH14c.4546G>C (p.Ala1516Pro)
c.4645G>C (p.Ala1549Pro)
c.*6G>C (n.*6G>C)
c.4522G>C (p.Ala1508Pro)
c.451G>C (p.Ala151Pro)
n.1824G>C
c.4666G>C (p.Ala1556Pro)
c.4642G>C (p.Ala1548Pro)
c.4570G>C (p.Ala1524Pro)
19g.50286587G=CA2340825546MYH14c.4546G= (p.Ala1516=)
c.4645G= (p.Ala1549=)
c.*6G= (n.*6G=)
c.4522G= (p.Ala1508=)
c.451G= (p.Ala151=)
n.1824G=
c.4666G= (p.Ala1556=)
c.4642G= (p.Ala1548=)
c.4570G= (p.Ala1524=)
19g.50286587G>TCA406959149MYH14c.4546G>T (p.Ala1516Ser)
c.4645G>T (p.Ala1549Ser)
c.*6G>T (n.*6G>T)
c.4522G>T (p.Ala1508Ser)
c.451G>T (p.Ala151Ser)
n.1824G>T
c.4666G>T (p.Ala1556Ser)
c.4642G>T (p.Ala1548Ser)
c.4570G>T (p.Ala1524Ser)
gnomAD v4
19g.50286588C>ACA406959151MYH14c.4547C>A (p.Ala1516Glu)
c.4646C>A (p.Ala1549Glu)
c.*7C>A (n.*7C>A)
c.4523C>A (p.Ala1508Glu)
c.452C>A (p.Ala151Glu)
n.1825C>A
c.4667C>A (p.Ala1556Glu)
c.4643C>A (p.Ala1548Glu)
c.4571C>A (p.Ala1524Glu)
19g.50286588C>GCA406959152MYH14c.4547C>G (p.Ala1516Gly)
c.4646C>G (p.Ala1549Gly)
c.*7C>G (n.*7C>G)
c.4523C>G (p.Ala1508Gly)
c.452C>G (p.Ala151Gly)
n.1825C>G
c.4667C>G (p.Ala1556Gly)
c.4643C>G (p.Ala1548Gly)
c.4571C>G (p.Ala1524Gly)
19g.50286588C>TCA406959153MYH14c.4547C>T (p.Ala1516Val)
c.4646C>T (p.Ala1549Val)
c.*7C>T (n.*7C>T)
c.4523C>T (p.Ala1508Val)
c.452C>T (p.Ala151Val)
n.1825C>T
c.4667C>T (p.Ala1556Val)
c.4643C>T (p.Ala1548Val)
c.4571C>T (p.Ala1524Val)
19g.50286589A>CCA508178015MYH14c.4548A>C (p.Ala1516=)
c.4647A>C (p.Ala1549=)
c.*8A>C (n.*8A>C)
c.4524A>C (p.Ala1508=)
c.453A>C (p.Ala151=)
n.1826A>C
c.4668A>C (p.Ala1556=)
c.4644A>C (p.Ala1548=)
c.4572A>C (p.Ala1524=)
19g.50286589A>GCA508178016MYH14c.4548A>G (p.Ala1516=)
c.4647A>G (p.Ala1549=)
c.*8A>G (n.*8A>G)
c.4524A>G (p.Ala1508=)
c.453A>G (p.Ala151=)
n.1826A>G
c.4668A>G (p.Ala1556=)
c.4644A>G (p.Ala1548=)
c.4572A>G (p.Ala1524=)
19g.50286589A>TCA508178017MYH14c.4548A>T (p.Ala1516=)
c.4647A>T (p.Ala1549=)
c.*8A>T (n.*8A>T)
c.4524A>T (p.Ala1508=)
c.453A>T (p.Ala151=)
n.1826A>T
c.4668A>T (p.Ala1556=)
c.4644A>T (p.Ala1548=)
c.4572A>T (p.Ala1524=)
19g.50286590C>ACA406959156MYH14c.4549C>A (p.Leu1517Met)
c.4648C>A (p.Leu1550Met)
c.*9C>A (n.*9C>A)
c.4525C>A (p.Leu1509Met)
c.454C>A (p.Leu152Met)
n.1827C>A
c.4669C>A (p.Leu1557Met)
c.4645C>A (p.Leu1549Met)
c.4573C>A (p.Leu1525Met)
19g.50286590C=CA2340825547MYH14c.4549C= (p.Leu1517=)
c.4648C= (p.Leu1550=)
c.*9C= (n.*9C=)
c.4525C= (p.Leu1509=)
c.454C= (p.Leu152=)
n.1827C=
c.4669C= (p.Leu1557=)
c.4645C= (p.Leu1549=)
c.4573C= (p.Leu1525=)
19g.50286590C>GCA406959158MYH14c.4549C>G (p.Leu1517Val)
c.4648C>G (p.Leu1550Val)
c.*9C>G (n.*9C>G)
c.4525C>G (p.Leu1509Val)
c.454C>G (p.Leu152Val)
n.1827C>G
c.4669C>G (p.Leu1557Val)
c.4645C>G (p.Leu1549Val)
c.4573C>G (p.Leu1525Val)
dbSNP gnomAD v2 gnomAD v4
19g.50286590C>TCA508178018MYH14c.4549C>T (p.Leu1517=)
c.4648C>T (p.Leu1550=)
c.*9C>T (n.*9C>T)
c.4525C>T (p.Leu1509=)
c.454C>T (p.Leu152=)
n.1827C>T
c.4669C>T (p.Leu1557=)
c.4645C>T (p.Leu1549=)
c.4573C>T (p.Leu1525=)
19g.50286591T>ACA406959160MYH14c.4550T>A (p.Leu1517Gln)
c.4649T>A (p.Leu1550Gln)
c.*10T>A (n.*10T>A)
c.4526T>A (p.Leu1509Gln)
c.455T>A (p.Leu152Gln)
n.1828T>A
c.4670T>A (p.Leu1557Gln)
c.4646T>A (p.Leu1549Gln)
c.4574T>A (p.Leu1525Gln)
19g.50286591T>CCA406959162MYH14c.4550T>C (p.Leu1517Pro)
c.4649T>C (p.Leu1550Pro)
c.*10T>C (n.*10T>C)
c.4526T>C (p.Leu1509Pro)
c.455T>C (p.Leu152Pro)
n.1828T>C
c.4670T>C (p.Leu1557Pro)
c.4646T>C (p.Leu1549Pro)
c.4574T>C (p.Leu1525Pro)
gnomAD v4
19g.50286591T>GCA406959164MYH14c.4550T>G (p.Leu1517Arg)
c.4649T>G (p.Leu1550Arg)
c.*10T>G (n.*10T>G)
c.4526T>G (p.Leu1509Arg)
c.455T>G (p.Leu152Arg)
n.1828T>G
c.4670T>G (p.Leu1557Arg)
c.4646T>G (p.Leu1549Arg)
c.4574T>G (p.Leu1525Arg)
19g.50286592G>ACA508178021MYH14c.4551G>A (p.Leu1517=)
c.4650G>A (p.Leu1550=)
c.*11G>A (n.*11G>A)
c.4527G>A (p.Leu1509=)
c.456G>A (p.Leu152=)
n.1829G>A
c.4671G>A (p.Leu1557=)
c.4647G>A (p.Leu1549=)
c.4575G>A (p.Leu1525=)
dbSNP gnomAD v3 gnomAD v4
19g.50286592G>CCA508178019MYH14c.4551G>C (p.Leu1517=)
c.4650G>C (p.Leu1550=)
c.*11G>C (n.*11G>C)
c.4527G>C (p.Leu1509=)
c.456G>C (p.Leu152=)
n.1829G>C
c.4671G>C (p.Leu1557=)
c.4647G>C (p.Leu1549=)
c.4575G>C (p.Leu1525=)
19g.50286592G=CA2340825548MYH14c.4551G= (p.Leu1517=)
c.4650G= (p.Leu1550=)
c.*11G= (n.*11G=)
c.4527G= (p.Leu1509=)
c.456G= (p.Leu152=)
n.1829G=
c.4671G= (p.Leu1557=)
c.4647G= (p.Leu1549=)
c.4575G= (p.Leu1525=)
19g.50286592G>TCA508178020MYH14c.4551G>T (p.Leu1517=)
c.4650G>T (p.Leu1550=)
c.*11G>T (n.*11G>T)
c.4527G>T (p.Leu1509=)
c.456G>T (p.Leu152=)
n.1829G>T
c.4671G>T (p.Leu1557=)
c.4647G>T (p.Leu1549=)
c.4575G>T (p.Leu1525=)
19g.50286593G>ACA406959166MYH14c.4552G>A (p.Glu1518Lys)
c.4651G>A (p.Glu1551Lys)
c.*12G>A (n.*12G>A)
c.4528G>A (p.Glu1510Lys)
c.457G>A (p.Glu153Lys)
n.1830G>A
c.4672G>A (p.Glu1558Lys)
c.4648G>A (p.Glu1550Lys)
c.4576G>A (p.Glu1526Lys)
dbSNP gnomAD v2 gnomAD v4
19g.50286593G>CCA406959170MYH14c.4552G>C (p.Glu1518Gln)
c.4651G>C (p.Glu1551Gln)
c.*12G>C (n.*12G>C)
c.4528G>C (p.Glu1510Gln)
c.457G>C (p.Glu153Gln)
n.1830G>C
c.4672G>C (p.Glu1558Gln)
c.4648G>C (p.Glu1550Gln)
c.4576G>C (p.Glu1526Gln)
19g.50286593G=CA2340825549MYH14c.4552G= (p.Glu1518=)
c.4651G= (p.Glu1551=)
c.*12G= (n.*12G=)
c.4528G= (p.Glu1510=)
c.457G= (p.Glu153=)
n.1830G=
c.4672G= (p.Glu1558=)
c.4648G= (p.Glu1550=)
c.4576G= (p.Glu1526=)
19g.50286593G>TCA406959168MYH14c.4552G>T (p.Glu1518Ter)
c.4651G>T (p.Glu1551Ter)
c.*12G>T (n.*12G>T)
c.4528G>T (p.Glu1510Ter)
c.457G>T (p.Glu153Ter)
n.1830G>T
c.4672G>T (p.Glu1558Ter)
c.4648G>T (p.Glu1550Ter)
c.4576G>T (p.Glu1526Ter)
19g.50286594A>CCA406959172MYH14c.4553A>C (p.Glu1518Ala)
c.4652A>C (p.Glu1551Ala)
c.*13A>C (n.*13A>C)
c.4529A>C (p.Glu1510Ala)
c.458A>C (p.Glu153Ala)
n.1831A>C
c.4673A>C (p.Glu1558Ala)
c.4649A>C (p.Glu1550Ala)
c.4577A>C (p.Glu1526Ala)
19g.50286594A>GCA406959174MYH14c.4553A>G (p.Glu1518Gly)
c.4652A>G (p.Glu1551Gly)
c.*13A>G (n.*13A>G)
c.4529A>G (p.Glu1510Gly)
c.458A>G (p.Glu153Gly)
n.1831A>G
c.4673A>G (p.Glu1558Gly)
c.4649A>G (p.Glu1550Gly)
c.4577A>G (p.Glu1526Gly)
19g.50286594A>TCA406959175MYH14c.4553A>T (p.Glu1518Val)
c.4652A>T (p.Glu1551Val)
c.*13A>T (n.*13A>T)
c.4529A>T (p.Glu1510Val)
c.458A>T (p.Glu153Val)
n.1831A>T
c.4673A>T (p.Glu1558Val)
c.4649A>T (p.Glu1550Val)
c.4577A>T (p.Glu1526Val)
19g.50286595G>ACA508178022MYH14c.4554G>A (p.Glu1518=)
c.4653G>A (p.Glu1551=)
c.*14G>A (n.*14G>A)
c.4530G>A (p.Glu1510=)
c.459G>A (p.Glu153=)
n.1832G>A
c.4674G>A (p.Glu1558=)
c.4650G>A (p.Glu1550=)
c.4578G>A (p.Glu1526=)
19g.50286595G>CCA406959177MYH14c.4554G>C (p.Glu1518Asp)
c.4653G>C (p.Glu1551Asp)
c.*14G>C (n.*14G>C)
c.4530G>C (p.Glu1510Asp)
c.459G>C (p.Glu153Asp)
n.1832G>C
c.4674G>C (p.Glu1558Asp)
c.4650G>C (p.Glu1550Asp)
c.4578G>C (p.Glu1526Asp)
19g.50286595G>TCA406959179MYH14c.4554G>T (p.Glu1518Asp)
c.4653G>T (p.Glu1551Asp)
c.*14G>T (n.*14G>T)
c.4530G>T (p.Glu1510Asp)
c.459G>T (p.Glu153Asp)
n.1832G>T
c.4674G>T (p.Glu1558Asp)
c.4650G>T (p.Glu1550Asp)
c.4578G>T (p.Glu1526Asp)
19g.50286596G>ACA406959181MYH14c.4555G>A (p.Glu1519Lys)
c.4654G>A (p.Glu1552Lys)
c.*15G>A (n.*15G>A)
c.4531G>A (p.Glu1511Lys)
c.460G>A (p.Glu154Lys)
n.1833G>A
c.4675G>A (p.Glu1559Lys)
c.4651G>A (p.Glu1551Lys)
c.4579G>A (p.Glu1527Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.50286596G>CCA406959182MYH14c.4555G>C (p.Glu1519Gln)
c.4654G>C (p.Glu1552Gln)
c.*15G>C (n.*15G>C)
c.4531G>C (p.Glu1511Gln)
c.460G>C (p.Glu154Gln)
n.1833G>C
c.4675G>C (p.Glu1559Gln)
c.4651G>C (p.Glu1551Gln)
c.4579G>C (p.Glu1527Gln)
19g.50286596G=CA2340825550MYH14c.4555G= (p.Glu1519=)
c.4654G= (p.Glu1552=)
c.*15G= (n.*15G=)
c.4531G= (p.Glu1511=)
c.460G= (p.Glu154=)
n.1833G=
c.4675G= (p.Glu1559=)
c.4651G= (p.Glu1551=)
c.4579G= (p.Glu1527=)
19g.50286596G>TCA406959184MYH14c.4555G>T (p.Glu1519Ter)
c.4654G>T (p.Glu1552Ter)
c.*15G>T (n.*15G>T)
c.4531G>T (p.Glu1511Ter)
c.460G>T (p.Glu154Ter)
n.1833G>T
c.4675G>T (p.Glu1559Ter)
c.4651G>T (p.Glu1551Ter)
c.4579G>T (p.Glu1527Ter)
19g.50286597A>CCA406959185MYH14c.4556A>C (p.Glu1519Ala)
c.4655A>C (p.Glu1552Ala)
c.*16A>C (n.*16A>C)
c.4532A>C (p.Glu1511Ala)
c.461A>C (p.Glu154Ala)
n.1834A>C
c.4676A>C (p.Glu1559Ala)
c.4652A>C (p.Glu1551Ala)
c.4580A>C (p.Glu1527Ala)
19g.50286597A>GCA406959186MYH14c.4556A>G (p.Glu1519Gly)
c.4655A>G (p.Glu1552Gly)
c.*16A>G (n.*16A>G)
c.4532A>G (p.Glu1511Gly)
c.461A>G (p.Glu154Gly)
n.1834A>G
c.4676A>G (p.Glu1559Gly)
c.4652A>G (p.Glu1551Gly)
c.4580A>G (p.Glu1527Gly)
19g.50286597A>TCA406959188MYH14c.4556A>T (p.Glu1519Val)
c.4655A>T (p.Glu1552Val)
c.*16A>T (n.*16A>T)
c.4532A>T (p.Glu1511Val)
c.461A>T (p.Glu154Val)
n.1834A>T
c.4676A>T (p.Glu1559Val)
c.4652A>T (p.Glu1551Val)
c.4580A>T (p.Glu1527Val)
19g.50286598G>ACA9593565MYH14c.4557G>A (p.Glu1519=)
c.4656G>A (p.Glu1552=)
c.*17G>A (n.*17G>A)
c.4533G>A (p.Glu1511=)
c.462G>A (p.Glu154=)
n.1835G>A
c.4677G>A (p.Glu1559=)
c.4653G>A (p.Glu1551=)
c.4581G>A (p.Glu1527=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286598G>CCA406959193MYH14c.4557G>C (p.Glu1519Asp)
c.4656G>C (p.Glu1552Asp)
c.*17G>C (n.*17G>C)
c.4533G>C (p.Glu1511Asp)
c.462G>C (p.Glu154Asp)
n.1835G>C
c.4677G>C (p.Glu1559Asp)
c.4653G>C (p.Glu1551Asp)
c.4581G>C (p.Glu1527Asp)
19g.50286598G=CA2340825551MYH14c.4557G= (p.Glu1519=)
c.4656G= (p.Glu1552=)
c.*17G= (n.*17G=)
c.4533G= (p.Glu1511=)
c.462G= (p.Glu154=)
n.1835G=
c.4677G= (p.Glu1559=)
c.4653G= (p.Glu1551=)
c.4581G= (p.Glu1527=)
19g.50286598G>TCA406959190MYH14c.4557G>T (p.Glu1519Asp)
c.4656G>T (p.Glu1552Asp)
c.*17G>T (n.*17G>T)
c.4533G>T (p.Glu1511Asp)
c.462G>T (p.Glu154Asp)
n.1835G>T
c.4677G>T (p.Glu1559Asp)
c.4653G>T (p.Glu1551Asp)
c.4581G>T (p.Glu1527Asp)
19g.50286599G>ACA406959196MYH14c.4558G>A (p.Glu1520Lys)
c.4657G>A (p.Glu1553Lys)
c.*18G>A (n.*18G>A)
c.4534G>A (p.Glu1512Lys)
c.463G>A (p.Glu155Lys)
n.1836G>A
c.4678G>A (p.Glu1560Lys)
c.4654G>A (p.Glu1552Lys)
c.4582G>A (p.Glu1528Lys)
COSMIC COSMIC
19g.50286599G>CCA406959198MYH14c.4558G>C (p.Glu1520Gln)
c.4657G>C (p.Glu1553Gln)
c.*18G>C (n.*18G>C)
c.4534G>C (p.Glu1512Gln)
c.463G>C (p.Glu155Gln)
n.1836G>C
c.4678G>C (p.Glu1560Gln)
c.4654G>C (p.Glu1552Gln)
c.4582G>C (p.Glu1528Gln)
19g.50286599G>TCA406959200MYH14c.4558G>T (p.Glu1520Ter)
c.4657G>T (p.Glu1553Ter)
c.*18G>T (n.*18G>T)
c.4534G>T (p.Glu1512Ter)
c.463G>T (p.Glu155Ter)
n.1836G>T
c.4678G>T (p.Glu1560Ter)
c.4654G>T (p.Glu1552Ter)
c.4582G>T (p.Glu1528Ter)
19g.50286600A>CCA406959202MYH14c.4559A>C (p.Glu1520Ala)
c.4658A>C (p.Glu1553Ala)
c.*19A>C (n.*19A>C)
c.4535A>C (p.Glu1512Ala)
c.464A>C (p.Glu155Ala)
n.1837A>C
c.4679A>C (p.Glu1560Ala)
c.4655A>C (p.Glu1552Ala)
c.4583A>C (p.Glu1528Ala)
19g.50286600A>GCA406959204MYH14c.4559A>G (p.Glu1520Gly)
c.4658A>G (p.Glu1553Gly)
c.*19A>G (n.*19A>G)
c.4535A>G (p.Glu1512Gly)
c.464A>G (p.Glu155Gly)
n.1837A>G
c.4679A>G (p.Glu1560Gly)
c.4655A>G (p.Glu1552Gly)
c.4583A>G (p.Glu1528Gly)
19g.50286600A>TCA406959206MYH14c.4559A>T (p.Glu1520Val)
c.4658A>T (p.Glu1553Val)
c.*19A>T (n.*19A>T)
c.4535A>T (p.Glu1512Val)
c.464A>T (p.Glu155Val)
n.1837A>T
c.4679A>T (p.Glu1560Val)
c.4655A>T (p.Glu1552Val)
c.4583A>T (p.Glu1528Val)
19g.50286601G>ACA508178023MYH14c.4560G>A (p.Glu1520=)
c.4659G>A (p.Glu1553=)
c.*20G>A (n.*20G>A)
c.4536G>A (p.Glu1512=)
c.465G>A (p.Glu155=)
n.1838G>A
c.4680G>A (p.Glu1560=)
c.4656G>A (p.Glu1552=)
c.4584G>A (p.Glu1528=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.50286601G>CCA406959208MYH14c.4560G>C (p.Glu1520Asp)
c.4659G>C (p.Glu1553Asp)
c.*20G>C (n.*20G>C)
c.4536G>C (p.Glu1512Asp)
c.465G>C (p.Glu155Asp)
n.1838G>C
c.4680G>C (p.Glu1560Asp)
c.4656G>C (p.Glu1552Asp)
c.4584G>C (p.Glu1528Asp)
19g.50286601G=CA2340825552MYH14c.4560G= (p.Glu1520=)
c.4659G= (p.Glu1553=)
c.*20G= (n.*20G=)
c.4536G= (p.Glu1512=)
c.465G= (p.Glu155=)
n.1838G=
c.4680G= (p.Glu1560=)
c.4656G= (p.Glu1552=)
c.4584G= (p.Glu1528=)
19g.50286601G>TCA406959210MYH14c.4560G>T (p.Glu1520Asp)
c.4659G>T (p.Glu1553Asp)
c.*20G>T (n.*20G>T)
c.4536G>T (p.Glu1512Asp)
c.465G>T (p.Glu155Asp)
n.1838G>T
c.4680G>T (p.Glu1560Asp)
c.4656G>T (p.Glu1552Asp)
c.4584G>T (p.Glu1528Asp)
gnomAD v4
19g.50286602C>ACA9593566MYH14c.4561C>A (p.Gln1521Lys)
c.4660C>A (p.Gln1554Lys)
c.*21C>A (n.*21C>A)
c.4537C>A (p.Gln1513Lys)
c.466C>A (p.Gln156Lys)
n.1839C>A
c.4681C>A (p.Gln1561Lys)
c.4657C>A (p.Gln1553Lys)
c.4585C>A (p.Gln1529Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.50286602C=CA2340825553MYH14c.4561C= (p.Gln1521=)
c.4660C= (p.Gln1554=)
c.*21C= (n.*21C=)
c.4537C= (p.Gln1513=)
c.466C= (p.Gln156=)
n.1839C=
c.4681C= (p.Gln1561=)
c.4657C= (p.Gln1553=)
c.4585C= (p.Gln1529=)
19g.50286602C>GCA406959212MYH14c.4561C>G (p.Gln1521Glu)
c.4660C>G (p.Gln1554Glu)
c.*21C>G (n.*21C>G)
c.4537C>G (p.Gln1513Glu)
c.466C>G (p.Gln156Glu)
n.1839C>G
c.4681C>G (p.Gln1561Glu)
c.4657C>G (p.Gln1553Glu)
c.4585C>G (p.Gln1529Glu)
19g.50286602C>TCA406959214MYH14c.4561C>T (p.Gln1521Ter)
c.4660C>T (p.Gln1554Ter)
c.*21C>T (n.*21C>T)
c.4537C>T (p.Gln1513Ter)
c.466C>T (p.Gln156Ter)
n.1839C>T
c.4681C>T (p.Gln1561Ter)
c.4657C>T (p.Gln1553Ter)
c.4585C>T (p.Gln1529Ter)
19g.50286603A>CCA406959220MYH14c.4562A>C (p.Gln1521Pro)
c.4661A>C (p.Gln1554Pro)
c.*22A>C (n.*22A>C)
c.4538A>C (p.Gln1513Pro)
c.467A>C (p.Gln156Pro)
n.1840A>C
c.4682A>C (p.Gln1561Pro)
c.4658A>C (p.Gln1553Pro)
c.4586A>C (p.Gln1529Pro)
19g.50286603A>GCA406959218MYH14c.4562A>G (p.Gln1521Arg)
c.4661A>G (p.Gln1554Arg)
c.*22A>G (n.*22A>G)
c.4538A>G (p.Gln1513Arg)
c.467A>G (p.Gln156Arg)
n.1840A>G
c.4682A>G (p.Gln1561Arg)
c.4658A>G (p.Gln1553Arg)
c.4586A>G (p.Gln1529Arg)
gnomAD v4
19g.50286603A>TCA406959217MYH14c.4562A>T (p.Gln1521Leu)
c.4661A>T (p.Gln1554Leu)
c.*22A>T (n.*22A>T)
c.4538A>T (p.Gln1513Leu)
c.467A>T (p.Gln156Leu)
n.1840A>T
c.4682A>T (p.Gln1561Leu)
c.4658A>T (p.Gln1553Leu)
c.4586A>T (p.Gln1529Leu)
19g.50286604G>ACA508178024MYH14c.4563G>A (p.Gln1521=)
c.4662G>A (p.Gln1554=)
c.*23G>A (n.*23G>A)
c.4539G>A (p.Gln1513=)
c.468G>A (p.Gln156=)
n.1841G>A
c.4683G>A (p.Gln1561=)
c.4659G>A (p.Gln1553=)
c.4587G>A (p.Gln1529=)
19g.50286604G>CCA406959222MYH14c.4563G>C (p.Gln1521His)
c.4662G>C (p.Gln1554His)
c.*23G>C (n.*23G>C)
c.4539G>C (p.Gln1513His)
c.468G>C (p.Gln156His)
n.1841G>C
c.4683G>C (p.Gln1561His)
c.4659G>C (p.Gln1553His)
c.4587G>C (p.Gln1529His)
19g.50286604G>TCA406959224MYH14c.4563G>T (p.Gln1521His)
c.4662G>T (p.Gln1554His)
c.*23G>T (n.*23G>T)
c.4539G>T (p.Gln1513His)
c.468G>T (p.Gln156His)
n.1841G>T
c.4683G>T (p.Gln1561His)
c.4659G>T (p.Gln1553His)
c.4587G>T (p.Gln1529His)
19g.50286605G>ACA406959225MYH14c.4564G>A (p.Glu1522Lys)
c.4663G>A (p.Glu1555Lys)
c.*24G>A (n.*24G>A)
c.4540G>A (p.Glu1514Lys)
c.469G>A (p.Glu157Lys)
n.1842G>A
c.4684G>A (p.Glu1562Lys)
c.4660G>A (p.Glu1554Lys)
c.4588G>A (p.Glu1530Lys)
dbSNP gnomAD v3 gnomAD v4
19g.50286605G>CCA406959227MYH14c.4564G>C (p.Glu1522Gln)
c.4663G>C (p.Glu1555Gln)
c.*24G>C (n.*24G>C)
c.4540G>C (p.Glu1514Gln)
c.469G>C (p.Glu157Gln)
n.1842G>C
c.4684G>C (p.Glu1562Gln)
c.4660G>C (p.Glu1554Gln)
c.4588G>C (p.Glu1530Gln)
19g.50286605G=CA2340825554MYH14c.4564G= (p.Glu1522=)
c.4663G= (p.Glu1555=)
c.*24G= (n.*24G=)
c.4540G= (p.Glu1514=)
c.469G= (p.Glu157=)
n.1842G=
c.4684G= (p.Glu1562=)
c.4660G= (p.Glu1554=)
c.4588G= (p.Glu1530=)
19g.50286605G>TCA406959229MYH14c.4564G>T (p.Glu1522Ter)
c.4663G>T (p.Glu1555Ter)
c.*24G>T (n.*24G>T)
c.4540G>T (p.Glu1514Ter)
c.469G>T (p.Glu157Ter)
n.1842G>T
c.4684G>T (p.Glu1562Ter)
c.4660G>T (p.Glu1554Ter)
c.4588G>T (p.Glu1530Ter)
19g.50286606A>CCA406959231MYH14c.4565A>C (p.Glu1522Ala)
c.4664A>C (p.Glu1555Ala)
c.*25A>C (n.*25A>C)
c.4541A>C (p.Glu1514Ala)
c.470A>C (p.Glu157Ala)
n.1843A>C
c.4685A>C (p.Glu1562Ala)
c.4661A>C (p.Glu1554Ala)
c.4589A>C (p.Glu1530Ala)
ClinVar
19g.50286606A>GCA406959233MYH14c.4565A>G (p.Glu1522Gly)
c.4664A>G (p.Glu1555Gly)
c.*25A>G (n.*25A>G)
c.4541A>G (p.Glu1514Gly)
c.470A>G (p.Glu157Gly)
n.1843A>G
c.4685A>G (p.Glu1562Gly)
c.4661A>G (p.Glu1554Gly)
c.4589A>G (p.Glu1530Gly)
19g.50286606A>TCA406959235MYH14c.4565A>T (p.Glu1522Val)
c.4664A>T (p.Glu1555Val)
c.*25A>T (n.*25A>T)
c.4541A>T (p.Glu1514Val)
c.470A>T (p.Glu157Val)
n.1843A>T
c.4685A>T (p.Glu1562Val)
c.4661A>T (p.Glu1554Val)
c.4589A>T (p.Glu1530Val)
19g.50286607G>ACA508178025MYH14c.4566G>A (p.Glu1522=)
c.4665G>A (p.Glu1555=)
c.*26G>A (n.*26G>A)
c.4542G>A (p.Glu1514=)
c.471G>A (p.Glu157=)
n.1844G>A
c.4686G>A (p.Glu1562=)
c.4662G>A (p.Glu1554=)
c.4590G>A (p.Glu1530=)
19g.50286607G>CCA406959237MYH14c.4566G>C (p.Glu1522Asp)
c.4665G>C (p.Glu1555Asp)
c.*26G>C (n.*26G>C)
c.4542G>C (p.Glu1514Asp)
c.471G>C (p.Glu157Asp)
n.1844G>C
c.4686G>C (p.Glu1562Asp)
c.4662G>C (p.Glu1554Asp)
c.4590G>C (p.Glu1530Asp)
gnomAD v4
19g.50286607G>TCA406959239MYH14c.4566G>T (p.Glu1522Asp)
c.4665G>T (p.Glu1555Asp)
c.*26G>T (n.*26G>T)
c.4542G>T (p.Glu1514Asp)
c.471G>T (p.Glu157Asp)
n.1844G>T
c.4686G>T (p.Glu1562Asp)
c.4662G>T (p.Glu1554Asp)
c.4590G>T (p.Glu1530Asp)
19g.50286608G>ACA9593567MYH14c.4567G>A (p.Ala1523Thr)
c.4666G>A (p.Ala1556Thr)
c.*27G>A (n.*27G>A)
c.4543G>A (p.Ala1515Thr)
c.472G>A (p.Ala158Thr)
n.1845G>A
c.4687G>A (p.Ala1563Thr)
c.4663G>A (p.Ala1555Thr)
c.4591G>A (p.Ala1531Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286608G>CCA406959242MYH14c.4567G>C (p.Ala1523Pro)
c.4666G>C (p.Ala1556Pro)
c.*27G>C (n.*27G>C)
c.4543G>C (p.Ala1515Pro)
c.472G>C (p.Ala158Pro)
n.1845G>C
c.4687G>C (p.Ala1563Pro)
c.4663G>C (p.Ala1555Pro)
c.4591G>C (p.Ala1531Pro)
19g.50286608G=CA2340825555MYH14c.4567G= (p.Ala1523=)
c.4666G= (p.Ala1556=)
c.*27G= (n.*27G=)
c.4543G= (p.Ala1515=)
c.472G= (p.Ala158=)
n.1845G=
c.4687G= (p.Ala1563=)
c.4663G= (p.Ala1555=)
c.4591G= (p.Ala1531=)
19g.50286608G>TCA406959244MYH14c.4567G>T (p.Ala1523Ser)
c.4666G>T (p.Ala1556Ser)
c.*27G>T (n.*27G>T)
c.4543G>T (p.Ala1515Ser)
c.472G>T (p.Ala158Ser)
n.1845G>T
c.4687G>T (p.Ala1563Ser)
c.4663G>T (p.Ala1555Ser)
c.4591G>T (p.Ala1531Ser)
19g.50286609C>ACA406959250MYH14c.4568C>A (p.Ala1523Glu)
c.4667C>A (p.Ala1556Glu)
c.*28C>A (n.*28C>A)
c.4544C>A (p.Ala1515Glu)
c.473C>A (p.Ala158Glu)
n.1846C>A
c.4688C>A (p.Ala1563Glu)
c.4664C>A (p.Ala1555Glu)
c.4592C>A (p.Ala1531Glu)
19g.50286609C=CA2340825556MYH14c.4568C= (p.Ala1523=)
c.4667C= (p.Ala1556=)
c.*28C= (n.*28C=)
c.4544C= (p.Ala1515=)
c.473C= (p.Ala158=)
n.1846C=
c.4688C= (p.Ala1563=)
c.4664C= (p.Ala1555=)
c.4592C= (p.Ala1531=)
19g.50286609C>GCA406959248MYH14c.4568C>G (p.Ala1523Gly)
c.4667C>G (p.Ala1556Gly)
c.*28C>G (n.*28C>G)
c.4544C>G (p.Ala1515Gly)
c.473C>G (p.Ala158Gly)
n.1846C>G
c.4688C>G (p.Ala1563Gly)
c.4664C>G (p.Ala1555Gly)
c.4592C>G (p.Ala1531Gly)
19g.50286609C>TCA406959246MYH14c.4568C>T (p.Ala1523Val)
c.4667C>T (p.Ala1556Val)
c.*28C>T (n.*28C>T)
c.4544C>T (p.Ala1515Val)
c.473C>T (p.Ala158Val)
n.1846C>T
c.4688C>T (p.Ala1563Val)
c.4664C>T (p.Ala1555Val)
c.4592C>T (p.Ala1531Val)
dbSNP gnomAD v2 gnomAD v4
19g.50286610A>CCA508178026MYH14c.4569A>C (p.Ala1523=)
c.4668A>C (p.Ala1556=)
c.*29A>C (n.*29A>C)
c.4545A>C (p.Ala1515=)
c.474A>C (p.Ala158=)
n.1847A>C
c.4689A>C (p.Ala1563=)
c.4665A>C (p.Ala1555=)
c.4593A>C (p.Ala1531=)
19g.50286610A>GCA508178027MYH14c.4569A>G (p.Ala1523=)
c.4668A>G (p.Ala1556=)
c.*29A>G (n.*29A>G)
c.4545A>G (p.Ala1515=)
c.474A>G (p.Ala158=)
n.1847A>G
c.4689A>G (p.Ala1563=)
c.4665A>G (p.Ala1555=)
c.4593A>G (p.Ala1531=)
gnomAD v4
19g.50286610A>TCA508178028MYH14c.4569A>T (p.Ala1523=)
c.4668A>T (p.Ala1556=)
c.*29A>T (n.*29A>T)
c.4545A>T (p.Ala1515=)
c.474A>T (p.Ala158=)
n.1847A>T
c.4689A>T (p.Ala1563=)
c.4665A>T (p.Ala1555=)
c.4593A>T (p.Ala1531=)
19g.50286611C>ACA406959252MYH14c.4570C>A (p.Arg1524Ser)
c.4669C>A (p.Arg1557Ser)
c.*30C>A (n.*30C>A)
c.4546C>A (p.Arg1516Ser)
c.475C>A (p.Arg159Ser)
n.1848C>A
c.4690C>A (p.Arg1564Ser)
c.4666C>A (p.Arg1556Ser)
c.4594C>A (p.Arg1532Ser)
19g.50286611C=CA2340825557MYH14c.4570C= (p.Arg1524=)
c.4669C= (p.Arg1557=)
c.*30C= (n.*30C=)
c.4546C= (p.Arg1516=)
c.475C= (p.Arg159=)
n.1848C=
c.4690C= (p.Arg1564=)
c.4666C= (p.Arg1556=)
c.4594C= (p.Arg1532=)
19g.50286611C>GCA406959254MYH14c.4570C>G (p.Arg1524Gly)
c.4669C>G (p.Arg1557Gly)
c.*30C>G (n.*30C>G)
c.4546C>G (p.Arg1516Gly)
c.475C>G (p.Arg159Gly)
n.1848C>G
c.4690C>G (p.Arg1564Gly)
c.4666C>G (p.Arg1556Gly)
c.4594C>G (p.Arg1532Gly)
dbSNP
19g.50286611C>TCA9593568MYH14c.4570C>T (p.Arg1524Cys)
c.4669C>T (p.Arg1557Cys)
c.*30C>T (n.*30C>T)
c.4546C>T (p.Arg1516Cys)
c.475C>T (p.Arg159Cys)
n.1848C>T
c.4690C>T (p.Arg1564Cys)
c.4666C>T (p.Arg1556Cys)
c.4594C>T (p.Arg1532Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286612G>ACA9593569MYH14c.4571G>A (p.Arg1524His)
c.4670G>A (p.Arg1557His)
c.*31G>A (n.*31G>A)
c.4547G>A (p.Arg1516His)
c.476G>A (p.Arg159His)
n.1849G>A
c.4691G>A (p.Arg1564His)
c.4667G>A (p.Arg1556His)
c.4595G>A (p.Arg1532His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286612G>CCA406959258MYH14c.4571G>C (p.Arg1524Pro)
c.4670G>C (p.Arg1557Pro)
c.*31G>C (n.*31G>C)
c.4547G>C (p.Arg1516Pro)
c.476G>C (p.Arg159Pro)
n.1849G>C
c.4691G>C (p.Arg1564Pro)
c.4667G>C (p.Arg1556Pro)
c.4595G>C (p.Arg1532Pro)
dbSNP gnomAD v2 gnomAD v4
19g.50286612G=CA2340825558MYH14c.4571G= (p.Arg1524=)
c.4670G= (p.Arg1557=)
c.*31G= (n.*31G=)
c.4547G= (p.Arg1516=)
c.476G= (p.Arg159=)
n.1849G=
c.4691G= (p.Arg1564=)
c.4667G= (p.Arg1556=)
c.4595G= (p.Arg1532=)
19g.50286612G>TCA9593570MYH14c.4571G>T (p.Arg1524Leu)
c.4670G>T (p.Arg1557Leu)
c.*31G>T (n.*31G>T)
c.4547G>T (p.Arg1516Leu)
c.476G>T (p.Arg159Leu)
n.1849G>T
c.4691G>T (p.Arg1564Leu)
c.4667G>T (p.Arg1556Leu)
c.4595G>T (p.Arg1532Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286613T>ACA508178031MYH14c.4572T>A (p.Arg1524=)
c.4671T>A (p.Arg1557=)
c.*32T>A (n.*32T>A)
c.4548T>A (p.Arg1516=)
c.477T>A (p.Arg159=)
n.1850T>A
c.4692T>A (p.Arg1564=)
c.4668T>A (p.Arg1556=)
c.4596T>A (p.Arg1532=)
dbSNP gnomAD v4
19g.50286613T>CCA508178029MYH14c.4572T>C (p.Arg1524=)
c.4671T>C (p.Arg1557=)
c.*32T>C (n.*32T>C)
c.4548T>C (p.Arg1516=)
c.477T>C (p.Arg159=)
n.1850T>C
c.4692T>C (p.Arg1564=)
c.4668T>C (p.Arg1556=)
c.4596T>C (p.Arg1532=)
dbSNP gnomAD v4
19g.50286613T>GCA508178030MYH14c.4572T>G (p.Arg1524=)
c.4671T>G (p.Arg1557=)
c.*32T>G (n.*32T>G)
c.4548T>G (p.Arg1516=)
c.477T>G (p.Arg159=)
n.1850T>G
c.4692T>G (p.Arg1564=)
c.4668T>G (p.Arg1556=)
c.4596T>G (p.Arg1532=)
19g.50286613T=CA2340825559MYH14c.4572T= (p.Arg1524=)
c.4671T= (p.Arg1557=)
c.*32T= (n.*32T=)
c.4548T= (p.Arg1516=)
c.477T= (p.Arg159=)
n.1850T=
c.4692T= (p.Arg1564=)
c.4668T= (p.Arg1556=)
c.4596T= (p.Arg1532=)
19g.50286614G>ACA406959261MYH14c.4573G>A (p.Glu1525Lys)
c.4672G>A (p.Glu1558Lys)
c.*33G>A (n.*33G>A)
c.4549G>A (p.Glu1517Lys)
c.478G>A (p.Glu160Lys)
n.1851G>A
c.4693G>A (p.Glu1565Lys)
c.4669G>A (p.Glu1557Lys)
c.4597G>A (p.Glu1533Lys)
19g.50286614G>CCA406959263MYH14c.4573G>C (p.Glu1525Gln)
c.4672G>C (p.Glu1558Gln)
c.*33G>C (n.*33G>C)
c.4549G>C (p.Glu1517Gln)
c.478G>C (p.Glu160Gln)
n.1851G>C
c.4693G>C (p.Glu1565Gln)
c.4669G>C (p.Glu1557Gln)
c.4597G>C (p.Glu1533Gln)
19g.50286614G>TCA406959264MYH14c.4573G>T (p.Glu1525Ter)
c.4672G>T (p.Glu1558Ter)
c.*33G>T (n.*33G>T)
c.4549G>T (p.Glu1517Ter)
c.478G>T (p.Glu160Ter)
n.1851G>T
c.4693G>T (p.Glu1565Ter)
c.4669G>T (p.Glu1557Ter)
c.4597G>T (p.Glu1533Ter)
19g.50286615A>CCA406959267MYH14c.4574A>C (p.Glu1525Ala)
c.4673A>C (p.Glu1558Ala)
c.*34A>C (n.*34A>C)
c.4550A>C (p.Glu1517Ala)
c.479A>C (p.Glu160Ala)
n.1852A>C
c.4694A>C (p.Glu1565Ala)
c.4670A>C (p.Glu1557Ala)
c.4598A>C (p.Glu1533Ala)
19g.50286615A>GCA406959269MYH14c.4574A>G (p.Glu1525Gly)
c.4673A>G (p.Glu1558Gly)
c.*34A>G (n.*34A>G)
c.4550A>G (p.Glu1517Gly)
c.479A>G (p.Glu160Gly)
n.1852A>G
c.4694A>G (p.Glu1565Gly)
c.4670A>G (p.Glu1557Gly)
c.4598A>G (p.Glu1533Gly)
19g.50286615A>TCA406959270MYH14c.4574A>T (p.Glu1525Val)
c.4673A>T (p.Glu1558Val)
c.*34A>T (n.*34A>T)
c.4550A>T (p.Glu1517Val)
c.479A>T (p.Glu160Val)
n.1852A>T
c.4694A>T (p.Glu1565Val)
c.4670A>T (p.Glu1557Val)
c.4598A>T (p.Glu1533Val)
19g.50286616G>ACA508178032MYH14c.4575G>A (p.Glu1525=)
c.4674G>A (p.Glu1558=)
c.*35G>A (n.*35G>A)
c.4551G>A (p.Glu1517=)
c.480G>A (p.Glu160=)
n.1853G>A
c.4695G>A (p.Glu1565=)
c.4671G>A (p.Glu1557=)
c.4599G>A (p.Glu1533=)
dbSNP gnomAD v4
19g.50286616G>CCA406959274MYH14c.4575G>C (p.Glu1525Asp)
c.4674G>C (p.Glu1558Asp)
c.*35G>C (n.*35G>C)
c.4551G>C (p.Glu1517Asp)
c.480G>C (p.Glu160Asp)
n.1853G>C
c.4695G>C (p.Glu1565Asp)
c.4671G>C (p.Glu1557Asp)
c.4599G>C (p.Glu1533Asp)
19g.50286616G=CA2340825560MYH14c.4575G= (p.Glu1525=)
c.4674G= (p.Glu1558=)
c.*35G= (n.*35G=)
c.4551G= (p.Glu1517=)
c.480G= (p.Glu160=)
n.1853G=
c.4695G= (p.Glu1565=)
c.4671G= (p.Glu1557=)
c.4599G= (p.Glu1533=)
19g.50286616G>TCA406959273MYH14c.4575G>T (p.Glu1525Asp)
c.4674G>T (p.Glu1558Asp)
c.*35G>T (n.*35G>T)
c.4551G>T (p.Glu1517Asp)
c.480G>T (p.Glu160Asp)
n.1853G>T
c.4695G>T (p.Glu1565Asp)
c.4671G>T (p.Glu1557Asp)
c.4599G>T (p.Glu1533Asp)
19g.50286617G>ACA406959276MYH14c.4576G>A (p.Glu1526Lys)
c.4675G>A (p.Glu1559Lys)
c.*36G>A (n.*36G>A)
c.4552G>A (p.Glu1518Lys)
c.481G>A (p.Glu161Lys)
n.1854G>A
c.4696G>A (p.Glu1566Lys)
c.4672G>A (p.Glu1558Lys)
c.4600G>A (p.Glu1534Lys)
COSMIC COSMIC
19g.50286617G>CCA406959278MYH14c.4576G>C (p.Glu1526Gln)
c.4675G>C (p.Glu1559Gln)
c.*36G>C (n.*36G>C)
c.4552G>C (p.Glu1518Gln)
c.481G>C (p.Glu161Gln)
n.1854G>C
c.4696G>C (p.Glu1566Gln)
c.4672G>C (p.Glu1558Gln)
c.4600G>C (p.Glu1534Gln)
19g.50286617G>TCA406959280MYH14c.4576G>T (p.Glu1526Ter)
c.4675G>T (p.Glu1559Ter)
c.*36G>T (n.*36G>T)
c.4552G>T (p.Glu1518Ter)
c.481G>T (p.Glu161Ter)
n.1854G>T
c.4696G>T (p.Glu1566Ter)
c.4672G>T (p.Glu1558Ter)
c.4600G>T (p.Glu1534Ter)
19g.50286618A=CA2340825561MYH14c.4577A= (p.Glu1526=)
c.4676A= (p.Glu1559=)
c.*37A= (n.*37A=)
c.4553A= (p.Glu1518=)
c.482A= (p.Glu161=)
n.1855A=
c.4697A= (p.Glu1566=)
c.4673A= (p.Glu1558=)
c.4601A= (p.Glu1534=)
19g.50286618A>CCA406959282MYH14c.4577A>C (p.Glu1526Ala)
c.4676A>C (p.Glu1559Ala)
c.*37A>C (n.*37A>C)
c.4553A>C (p.Glu1518Ala)
c.482A>C (p.Glu161Ala)
n.1855A>C
c.4697A>C (p.Glu1566Ala)
c.4673A>C (p.Glu1558Ala)
c.4601A>C (p.Glu1534Ala)
19g.50286618A>GCA406959284MYH14c.4577A>G (p.Glu1526Gly)
c.4676A>G (p.Glu1559Gly)
c.*37A>G (n.*37A>G)
c.4553A>G (p.Glu1518Gly)
c.482A>G (p.Glu161Gly)
n.1855A>G
c.4697A>G (p.Glu1566Gly)
c.4673A>G (p.Glu1558Gly)
c.4601A>G (p.Glu1534Gly)
19g.50286618A>TCA309579870MYH14c.4577A>T (p.Glu1526Val)
c.4676A>T (p.Glu1559Val)
c.*37A>T (n.*37A>T)
c.4553A>T (p.Glu1518Val)
c.482A>T (p.Glu161Val)
n.1855A>T
c.4697A>T (p.Glu1566Val)
c.4673A>T (p.Glu1558Val)
c.4601A>T (p.Glu1534Val)
dbSNP
19g.50286619G>ACA508178033MYH14c.4578G>A (p.Glu1526=)
c.4677G>A (p.Glu1559=)
c.*38G>A (n.*38G>A)
c.4554G>A (p.Glu1518=)
c.483G>A (p.Glu161=)
n.1856G>A
c.4698G>A (p.Glu1566=)
c.4674G>A (p.Glu1558=)
c.4602G>A (p.Glu1534=)
19g.50286619G>CCA406959287MYH14c.4578G>C (p.Glu1526Asp)
c.4677G>C (p.Glu1559Asp)
c.*38G>C (n.*38G>C)
c.4554G>C (p.Glu1518Asp)
c.483G>C (p.Glu161Asp)
n.1856G>C
c.4698G>C (p.Glu1566Asp)
c.4674G>C (p.Glu1558Asp)
c.4602G>C (p.Glu1534Asp)
19g.50286619G>TCA406959288MYH14c.4578G>T (p.Glu1526Asp)
c.4677G>T (p.Glu1559Asp)
c.*38G>T (n.*38G>T)
c.4554G>T (p.Glu1518Asp)
c.483G>T (p.Glu161Asp)
n.1856G>T
c.4698G>T (p.Glu1566Asp)
c.4674G>T (p.Glu1558Asp)
c.4602G>T (p.Glu1534Asp)
19g.50286620C>ACA406959290MYH14c.4579C>A (p.Leu1527Met)
c.4678C>A (p.Leu1560Met)
c.*39C>A (n.*39C>A)
c.4555C>A (p.Leu1519Met)
c.484C>A (p.Leu162Met)
n.1857C>A
c.4699C>A (p.Leu1567Met)
c.4675C>A (p.Leu1559Met)
c.4603C>A (p.Leu1535Met)
gnomAD v4
19g.50286620C>GCA406959292MYH14c.4579C>G (p.Leu1527Val)
c.4678C>G (p.Leu1560Val)
c.*39C>G (n.*39C>G)
c.4555C>G (p.Leu1519Val)
c.484C>G (p.Leu162Val)
n.1857C>G
c.4699C>G (p.Leu1567Val)
c.4675C>G (p.Leu1559Val)
c.4603C>G (p.Leu1535Val)
19g.50286620C>TCA508178034MYH14c.4579C>T (p.Leu1527=)
c.4678C>T (p.Leu1560=)
c.*39C>T (n.*39C>T)
c.4555C>T (p.Leu1519=)
c.484C>T (p.Leu162=)
n.1857C>T
c.4699C>T (p.Leu1567=)
c.4675C>T (p.Leu1559=)
c.4603C>T (p.Leu1535=)
gnomAD v4
19g.50286621T>ACA406959293MYH14c.4580T>A (p.Leu1527Gln)
c.4679T>A (p.Leu1560Gln)
c.*40T>A (n.*40T>A)
c.4556T>A (p.Leu1519Gln)
c.485T>A (p.Leu162Gln)
n.1858T>A
c.4700T>A (p.Leu1567Gln)
c.4676T>A (p.Leu1559Gln)
c.4604T>A (p.Leu1535Gln)
19g.50286621T>CCA406959295MYH14c.4580T>C (p.Leu1527Pro)
c.4679T>C (p.Leu1560Pro)
c.*40T>C (n.*40T>C)
c.4556T>C (p.Leu1519Pro)
c.485T>C (p.Leu162Pro)
n.1858T>C
c.4700T>C (p.Leu1567Pro)
c.4676T>C (p.Leu1559Pro)
c.4604T>C (p.Leu1535Pro)
gnomAD v4
19g.50286621T>GCA406959296MYH14c.4580T>G (p.Leu1527Arg)
c.4679T>G (p.Leu1560Arg)
c.*40T>G (n.*40T>G)
c.4556T>G (p.Leu1519Arg)
c.485T>G (p.Leu162Arg)
n.1858T>G
c.4700T>G (p.Leu1567Arg)
c.4676T>G (p.Leu1559Arg)
c.4604T>G (p.Leu1535Arg)
19g.50286622G>ACA508178035MYH14c.4581G>A (p.Leu1527=)
c.4680G>A (p.Leu1560=)
c.*41G>A (n.*41G>A)
c.4557G>A (p.Leu1519=)
c.486G>A (p.Leu162=)
n.1859G>A
c.4701G>A (p.Leu1567=)
c.4677G>A (p.Leu1559=)
c.4605G>A (p.Leu1535=)
dbSNP gnomAD v2 gnomAD v4
19g.50286622G>CCA508178036MYH14c.4581G>C (p.Leu1527=)
c.4680G>C (p.Leu1560=)
c.*41G>C (n.*41G>C)
c.4557G>C (p.Leu1519=)
c.486G>C (p.Leu162=)
n.1859G>C
c.4701G>C (p.Leu1567=)
c.4677G>C (p.Leu1559=)
c.4605G>C (p.Leu1535=)
19g.50286622G=CA2340825562MYH14c.4581G= (p.Leu1527=)
c.4680G= (p.Leu1560=)
c.*41G= (n.*41G=)
c.4557G= (p.Leu1519=)
c.486G= (p.Leu162=)
n.1859G=
c.4701G= (p.Leu1567=)
c.4677G= (p.Leu1559=)
c.4605G= (p.Leu1535=)
19g.50286622G>TCA508178037MYH14c.4581G>T (p.Leu1527=)
c.4680G>T (p.Leu1560=)
c.*41G>T (n.*41G>T)
c.4557G>T (p.Leu1519=)
c.486G>T (p.Leu162=)
n.1859G>T
c.4701G>T (p.Leu1567=)
c.4677G>T (p.Leu1559=)
c.4605G>T (p.Leu1535=)
19g.50286623G>ACA10643139MYH14c.4582G>A (p.Glu1528Lys)
c.4681G>A (p.Glu1561Lys)
c.*42G>A (n.*42G>A)
c.4558G>A (p.Glu1520Lys)
c.487G>A (p.Glu163Lys)
n.1860G>A
c.4702G>A (p.Glu1568Lys)
c.4678G>A (p.Glu1560Lys)
c.4606G>A (p.Glu1536Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.50286623G>CCA406959298MYH14c.4582G>C (p.Glu1528Gln)
c.4681G>C (p.Glu1561Gln)
c.*42G>C (n.*42G>C)
c.4558G>C (p.Glu1520Gln)
c.487G>C (p.Glu163Gln)
n.1860G>C
c.4702G>C (p.Glu1568Gln)
c.4678G>C (p.Glu1560Gln)
c.4606G>C (p.Glu1536Gln)
gnomAD v4
19g.50286623G=CA2340825563MYH14c.4582G= (p.Glu1528=)
c.4681G= (p.Glu1561=)
c.*42G= (n.*42G=)
c.4558G= (p.Glu1520=)
c.487G= (p.Glu163=)
n.1860G=
c.4702G= (p.Glu1568=)
c.4678G= (p.Glu1560=)
c.4606G= (p.Glu1536=)
19g.50286623G>TCA406959299MYH14c.4582G>T (p.Glu1528Ter)
c.4681G>T (p.Glu1561Ter)
c.*42G>T (n.*42G>T)
c.4558G>T (p.Glu1520Ter)
c.487G>T (p.Glu163Ter)
n.1860G>T
c.4702G>T (p.Glu1568Ter)
c.4678G>T (p.Glu1560Ter)
c.4606G>T (p.Glu1536Ter)
19g.50286624A>CCA406959301MYH14c.4583A>C (p.Glu1528Ala)
c.4682A>C (p.Glu1561Ala)
c.*43A>C (n.*43A>C)
c.4559A>C (p.Glu1520Ala)
c.488A>C (p.Glu163Ala)
n.1861A>C
c.4703A>C (p.Glu1568Ala)
c.4679A>C (p.Glu1560Ala)
c.4607A>C (p.Glu1536Ala)
19g.50286624A>GCA406959303MYH14c.4583A>G (p.Glu1528Gly)
c.4682A>G (p.Glu1561Gly)
c.*43A>G (n.*43A>G)
c.4559A>G (p.Glu1520Gly)
c.488A>G (p.Glu163Gly)
n.1861A>G
c.4703A>G (p.Glu1568Gly)
c.4679A>G (p.Glu1560Gly)
c.4607A>G (p.Glu1536Gly)
gnomAD v4
19g.50286624A>TCA406959305MYH14c.4583A>T (p.Glu1528Val)
c.4682A>T (p.Glu1561Val)
c.*43A>T (n.*43A>T)
c.4559A>T (p.Glu1520Val)
c.488A>T (p.Glu163Val)
n.1861A>T
c.4703A>T (p.Glu1568Val)
c.4679A>T (p.Glu1560Val)
c.4607A>T (p.Glu1536Val)
19g.50286625G>ACA508178038MYH14c.4584G>A (p.Glu1528=)
c.4683G>A (p.Glu1561=)
c.*44G>A (n.*44G>A)
c.4560G>A (p.Glu1520=)
c.489G>A (p.Glu163=)
n.1862G>A
c.4704G>A (p.Glu1568=)
c.4680G>A (p.Glu1560=)
c.4608G>A (p.Glu1536=)
gnomAD v4
19g.50286625G>CCA406959307MYH14c.4584G>C (p.Glu1528Asp)
c.4683G>C (p.Glu1561Asp)
c.*44G>C (n.*44G>C)
c.4560G>C (p.Glu1520Asp)
c.489G>C (p.Glu163Asp)
n.1862G>C
c.4704G>C (p.Glu1568Asp)
c.4680G>C (p.Glu1560Asp)
c.4608G>C (p.Glu1536Asp)
19g.50286625G>TCA406959309MYH14c.4584G>T (p.Glu1528Asp)
c.4683G>T (p.Glu1561Asp)
c.*44G>T (n.*44G>T)
c.4560G>T (p.Glu1520Asp)
c.489G>T (p.Glu163Asp)
n.1862G>T
c.4704G>T (p.Glu1568Asp)
c.4680G>T (p.Glu1560Asp)
c.4608G>T (p.Glu1536Asp)
gnomAD v4
19g.50286626C>ACA508178039MYH14c.4585C>A (p.Arg1529=)
c.4684C>A (p.Arg1562=)
c.*45C>A (n.*45C>A)
c.4561C>A (p.Arg1521=)
c.490C>A (p.Arg164=)
n.1863C>A
c.4705C>A (p.Arg1569=)
c.4681C>A (p.Arg1561=)
c.4609C>A (p.Arg1537=)
gnomAD v4
19g.50286626C=CA2340825564MYH14c.4585C= (p.Arg1529=)
c.4684C= (p.Arg1562=)
c.*45C= (n.*45C=)
c.4561C= (p.Arg1521=)
c.490C= (p.Arg164=)
n.1863C=
c.4705C= (p.Arg1569=)
c.4681C= (p.Arg1561=)
c.4609C= (p.Arg1537=)
19g.50286626C>GCA406959311MYH14c.4585C>G (p.Arg1529Gly)
c.4684C>G (p.Arg1562Gly)
c.*45C>G (n.*45C>G)
c.4561C>G (p.Arg1521Gly)
c.490C>G (p.Arg164Gly)
n.1863C>G
c.4705C>G (p.Arg1569Gly)
c.4681C>G (p.Arg1561Gly)
c.4609C>G (p.Arg1537Gly)
19g.50286626C>TCA9593571MYH14c.4585C>T (p.Arg1529Trp)
c.4684C>T (p.Arg1562Trp)
c.*45C>T (n.*45C>T)
c.4561C>T (p.Arg1521Trp)
c.490C>T (p.Arg164Trp)
n.1863C>T
c.4705C>T (p.Arg1569Trp)
c.4681C>T (p.Arg1561Trp)
c.4609C>T (p.Arg1537Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286627G>ACA182293MYH14c.4586G>A (p.Arg1529Gln)
c.4685G>A (p.Arg1562Gln)
c.*46G>A (n.*46G>A)
c.4562G>A (p.Arg1521Gln)
c.491G>A (p.Arg164Gln)
n.1864G>A
c.4706G>A (p.Arg1569Gln)
c.4682G>A (p.Arg1561Gln)
c.4610G>A (p.Arg1537Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286627G>CCA406959315MYH14c.4586G>C (p.Arg1529Pro)
c.4685G>C (p.Arg1562Pro)
c.*46G>C (n.*46G>C)
c.4562G>C (p.Arg1521Pro)
c.491G>C (p.Arg164Pro)
n.1864G>C
c.4706G>C (p.Arg1569Pro)
c.4682G>C (p.Arg1561Pro)
c.4610G>C (p.Arg1537Pro)
19g.50286627G=CA2340825565MYH14c.4586G= (p.Arg1529=)
c.4685G= (p.Arg1562=)
c.*46G= (n.*46G=)
c.4562G= (p.Arg1521=)
c.491G= (p.Arg164=)
n.1864G=
c.4706G= (p.Arg1569=)
c.4682G= (p.Arg1561=)
c.4610G= (p.Arg1537=)
19g.50286627G>TCA406959316MYH14c.4586G>T (p.Arg1529Leu)
c.4685G>T (p.Arg1562Leu)
c.*46G>T (n.*46G>T)
c.4562G>T (p.Arg1521Leu)
c.491G>T (p.Arg164Leu)
n.1864G>T
c.4706G>T (p.Arg1569Leu)
c.4682G>T (p.Arg1561Leu)
c.4610G>T (p.Arg1537Leu)
19g.50286628G>ACA508178040MYH14c.4587G>A (p.Arg1529=)
c.4686G>A (p.Arg1562=)
c.*47G>A (n.*47G>A)
c.4563G>A (p.Arg1521=)
c.492G>A (p.Arg164=)
n.1865G>A
c.4707G>A (p.Arg1569=)
c.4683G>A (p.Arg1561=)
c.4611G>A (p.Arg1537=)
gnomAD v4
19g.50286628G>CCA508178041MYH14c.4587G>C (p.Arg1529=)
c.4686G>C (p.Arg1562=)
c.*47G>C (n.*47G>C)
c.4563G>C (p.Arg1521=)
c.492G>C (p.Arg164=)
n.1865G>C
c.4707G>C (p.Arg1569=)
c.4683G>C (p.Arg1561=)
c.4611G>C (p.Arg1537=)
19g.50286628G>TCA508178042MYH14c.4587G>T (p.Arg1529=)
c.4686G>T (p.Arg1562=)
c.*47G>T (n.*47G>T)
c.4563G>T (p.Arg1521=)
c.492G>T (p.Arg164=)
n.1865G>T
c.4707G>T (p.Arg1569=)
c.4683G>T (p.Arg1561=)
c.4611G>T (p.Arg1537=)
19g.50286629C>ACA406959319MYH14c.4588C>A (p.Gln1530Lys)
c.4687C>A (p.Gln1563Lys)
c.*48C>A (n.*48C>A)
c.4564C>A (p.Gln1522Lys)
c.493C>A (p.Gln165Lys)
n.1866C>A
c.4708C>A (p.Gln1570Lys)
c.4684C>A (p.Gln1562Lys)
c.4612C>A (p.Gln1538Lys)
19g.50286629C>GCA406959321MYH14c.4588C>G (p.Gln1530Glu)
c.4687C>G (p.Gln1563Glu)
c.*48C>G (n.*48C>G)
c.4564C>G (p.Gln1522Glu)
c.493C>G (p.Gln165Glu)
n.1866C>G
c.4708C>G (p.Gln1570Glu)
c.4684C>G (p.Gln1562Glu)
c.4612C>G (p.Gln1538Glu)
19g.50286629C>TCA406959322MYH14c.4588C>T (p.Gln1530Ter)
c.4687C>T (p.Gln1563Ter)
c.*48C>T (n.*48C>T)
c.4564C>T (p.Gln1522Ter)
c.493C>T (p.Gln165Ter)
n.1866C>T
c.4708C>T (p.Gln1570Ter)
c.4684C>T (p.Gln1562Ter)
c.4612C>T (p.Gln1538Ter)
19g.50286630A>CCA406959326MYH14c.4589A>C (p.Gln1530Pro)
c.4688A>C (p.Gln1563Pro)
c.*49A>C (n.*49A>C)
c.4565A>C (p.Gln1522Pro)
c.494A>C (p.Gln165Pro)
n.1867A>C
c.4709A>C (p.Gln1570Pro)
c.4685A>C (p.Gln1562Pro)
c.4613A>C (p.Gln1538Pro)
19g.50286630A>GCA406959328MYH14c.4589A>G (p.Gln1530Arg)
c.4688A>G (p.Gln1563Arg)
c.*49A>G (n.*49A>G)
c.4565A>G (p.Gln1522Arg)
c.494A>G (p.Gln165Arg)
n.1867A>G
c.4709A>G (p.Gln1570Arg)
c.4685A>G (p.Gln1562Arg)
c.4613A>G (p.Gln1538Arg)
19g.50286630A>TCA406959325MYH14c.4589A>T (p.Gln1530Leu)
c.4688A>T (p.Gln1563Leu)
c.*49A>T (n.*49A>T)
c.4565A>T (p.Gln1522Leu)
c.494A>T (p.Gln165Leu)
n.1867A>T
c.4709A>T (p.Gln1570Leu)
c.4685A>T (p.Gln1562Leu)
c.4613A>T (p.Gln1538Leu)
19g.50286631G>ACA508178043MYH14c.4590G>A (p.Gln1530=)
c.4689G>A (p.Gln1563=)
c.*50G>A (n.*50G>A)
c.4566G>A (p.Gln1522=)
c.495G>A (p.Gln165=)
n.1868G>A
c.4710G>A (p.Gln1570=)
c.4686G>A (p.Gln1562=)
c.4614G>A (p.Gln1538=)
19g.50286631G>CCA406959330MYH14c.4590G>C (p.Gln1530His)
c.4689G>C (p.Gln1563His)
c.*50G>C (n.*50G>C)
c.4566G>C (p.Gln1522His)
c.495G>C (p.Gln165His)
n.1868G>C
c.4710G>C (p.Gln1570His)
c.4686G>C (p.Gln1562His)
c.4614G>C (p.Gln1538His)
19g.50286631G>TCA406959332MYH14c.4590G>T (p.Gln1530His)
c.4689G>T (p.Gln1563His)
c.*50G>T (n.*50G>T)
c.4566G>T (p.Gln1522His)
c.495G>T (p.Gln165His)
n.1868G>T
c.4710G>T (p.Gln1570His)
c.4686G>T (p.Gln1562His)
c.4614G>T (p.Gln1538His)
gnomAD v4
19g.50286632A>CCA406959334MYH14c.4591A>C (p.Asn1531His)
c.4690A>C (p.Asn1564His)
c.*51A>C (n.*51A>C)
c.4567A>C (p.Asn1523His)
c.496A>C (p.Asn166His)
n.1869A>C
c.4711A>C (p.Asn1571His)
c.4687A>C (p.Asn1563His)
c.4615A>C (p.Asn1539His)
19g.50286632A>GCA406959336MYH14c.4591A>G (p.Asn1531Asp)
c.4690A>G (p.Asn1564Asp)
c.*51A>G (n.*51A>G)
c.4567A>G (p.Asn1523Asp)
c.496A>G (p.Asn166Asp)
n.1869A>G
c.4711A>G (p.Asn1571Asp)
c.4687A>G (p.Asn1563Asp)
c.4615A>G (p.Asn1539Asp)
19g.50286632A>TCA406959338MYH14c.4591A>T (p.Asn1531Tyr)
c.4690A>T (p.Asn1564Tyr)
c.*51A>T (n.*51A>T)
c.4567A>T (p.Asn1523Tyr)
c.496A>T (p.Asn166Tyr)
n.1869A>T
c.4711A>T (p.Asn1571Tyr)
c.4687A>T (p.Asn1563Tyr)
c.4615A>T (p.Asn1539Tyr)
19g.50286633A>CCA406959340MYH14c.4592A>C (p.Asn1531Thr)
c.4691A>C (p.Asn1564Thr)
c.*52A>C (n.*52A>C)
c.4568A>C (p.Asn1523Thr)
c.497A>C (p.Asn166Thr)
n.1870A>C
c.4712A>C (p.Asn1571Thr)
c.4688A>C (p.Asn1563Thr)
c.4616A>C (p.Asn1539Thr)
19g.50286633A>GCA406959342MYH14c.4592A>G (p.Asn1531Ser)
c.4691A>G (p.Asn1564Ser)
c.*52A>G (n.*52A>G)
c.4568A>G (p.Asn1523Ser)
c.497A>G (p.Asn166Ser)
n.1870A>G
c.4712A>G (p.Asn1571Ser)
c.4688A>G (p.Asn1563Ser)
c.4616A>G (p.Asn1539Ser)
19g.50286633A>TCA406959343MYH14c.4592A>T (p.Asn1531Ile)
c.4691A>T (p.Asn1564Ile)
c.*52A>T (n.*52A>T)
c.4568A>T (p.Asn1523Ile)
c.497A>T (p.Asn166Ile)
n.1870A>T
c.4712A>T (p.Asn1571Ile)
c.4688A>T (p.Asn1563Ile)
c.4616A>T (p.Asn1539Ile)
19g.50286634C>ACA406959345MYH14c.4593C>A (p.Asn1531Lys)
c.4692C>A (p.Asn1564Lys)
c.*53C>A (n.*53C>A)
c.4569C>A (p.Asn1523Lys)
c.498C>A (p.Asn166Lys)
n.1871C>A
c.4713C>A (p.Asn1571Lys)
c.4689C>A (p.Asn1563Lys)
c.4617C>A (p.Asn1539Lys)
gnomAD v4
19g.50286634C>GCA406959347MYH14c.4593C>G (p.Asn1531Lys)
c.4692C>G (p.Asn1564Lys)
c.*53C>G (n.*53C>G)
c.4569C>G (p.Asn1523Lys)
c.498C>G (p.Asn166Lys)
n.1871C>G
c.4713C>G (p.Asn1571Lys)
c.4689C>G (p.Asn1563Lys)
c.4617C>G (p.Asn1539Lys)
19g.50286634C>TCA508178044MYH14c.4593C>T (p.Asn1531=)
c.4692C>T (p.Asn1564=)
c.*53C>T (n.*53C>T)
c.4569C>T (p.Asn1523=)
c.498C>T (p.Asn166=)
n.1871C>T
c.4713C>T (p.Asn1571=)
c.4689C>T (p.Asn1563=)
c.4617C>T (p.Asn1539=)
19g.50286635C>ACA9593572MYH14c.4594C>A (p.Arg1532=)
c.4693C>A (p.Arg1565=)
c.*54C>A (n.*54C>A)
c.4570C>A (p.Arg1524=)
c.499C>A (p.Arg167=)
n.1872C>A
c.4714C>A (p.Arg1572=)
c.4690C>A (p.Arg1564=)
c.4618C>A (p.Arg1540=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286635C=CA2340825566MYH14c.4594C= (p.Arg1532=)
c.4693C= (p.Arg1565=)
c.*54C= (n.*54C=)
c.4570C= (p.Arg1524=)
c.499C= (p.Arg167=)
n.1872C=
c.4714C= (p.Arg1572=)
c.4690C= (p.Arg1564=)
c.4618C= (p.Arg1540=)
19g.50286635C>GCA406959350MYH14c.4594C>G (p.Arg1532Gly)
c.4693C>G (p.Arg1565Gly)
c.*54C>G (n.*54C>G)
c.4570C>G (p.Arg1524Gly)
c.499C>G (p.Arg167Gly)
n.1872C>G
c.4714C>G (p.Arg1572Gly)
c.4690C>G (p.Arg1564Gly)
c.4618C>G (p.Arg1540Gly)
gnomAD v4
19g.50286635C>TCA9593573MYH14c.4594C>T (p.Arg1532Trp)
c.4693C>T (p.Arg1565Trp)
c.*54C>T (n.*54C>T)
c.4570C>T (p.Arg1524Trp)
c.499C>T (p.Arg167Trp)
n.1872C>T
c.4714C>T (p.Arg1572Trp)
c.4690C>T (p.Arg1564Trp)
c.4618C>T (p.Arg1540Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.50286636G>ACA9593574MYH14c.4595G>A (p.Arg1532Gln)
c.4694G>A (p.Arg1565Gln)
c.*55G>A (n.*55G>A)
c.4571G>A (p.Arg1524Gln)
c.500G>A (p.Arg167Gln)
n.1873G>A
c.4715G>A (p.Arg1572Gln)
c.4691G>A (p.Arg1564Gln)
c.4619G>A (p.Arg1540Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50286636G>CCA406959353MYH14c.4595G>C (p.Arg1532Pro)
c.4694G>C (p.Arg1565Pro)
c.*55G>C (n.*55G>C)
c.4571G>C (p.Arg1524Pro)
c.500G>C (p.Arg167Pro)
n.1873G>C
c.4715G>C (p.Arg1572Pro)
c.4691G>C (p.Arg1564Pro)
c.4619G>C (p.Arg1540Pro)
19g.50286636G=CA2340825567MYH14c.4595G= (p.Arg1532=)
c.4694G= (p.Arg1565=)
c.*55G= (n.*55G=)
c.4571G= (p.Arg1524=)
c.500G= (p.Arg167=)
n.1873G=
c.4715G= (p.Arg1572=)
c.4691G= (p.Arg1564=)
c.4619G= (p.Arg1540=)
19g.50286636G>TCA406959351MYH14c.4595G>T (p.Arg1532Leu)
c.4694G>T (p.Arg1565Leu)
c.*55G>T (n.*55G>T)
c.4571G>T (p.Arg1524Leu)
c.500G>T (p.Arg167Leu)
n.1873G>T
c.4715G>T (p.Arg1572Leu)
c.4691G>T (p.Arg1564Leu)
c.4619G>T (p.Arg1540Leu)
gnomAD v4 COSMIC COSMIC
19g.50286637G>ACA508178045MYH14c.4596G>A (p.Arg1532=)
c.4695G>A (p.Arg1565=)
c.*56G>A (n.*56G>A)
c.4572G>A (p.Arg1524=)
c.501G>A (p.Arg167=)
n.1874G>A
c.4716G>A (p.Arg1572=)
c.4692G>A (p.Arg1564=)
c.4620G>A (p.Arg1540=)
19g.50286637G>CCA508178046MYH14c.4596G>C (p.Arg1532=)
c.4695G>C (p.Arg1565=)
c.*56G>C (n.*56G>C)
c.4572G>C (p.Arg1524=)
c.501G>C (p.Arg167=)
n.1874G>C
c.4716G>C (p.Arg1572=)
c.4692G>C (p.Arg1564=)
c.4620G>C (p.Arg1540=)
19g.50286637G>TCA508178047MYH14c.4596G>T (p.Arg1532=)
c.4695G>T (p.Arg1565=)
c.*56G>T (n.*56G>T)
c.4572G>T (p.Arg1524=)
c.501G>T (p.Arg167=)
n.1874G>T
c.4716G>T (p.Arg1572=)
c.4692G>T (p.Arg1564=)
c.4620G>T (p.Arg1540=)
19g.50286638G>ACA406959356MYH14c.4597G>A (p.Ala1533Thr)
c.4696G>A (p.Ala1566Thr)
c.*57G>A (n.*57G>A)
c.4573G>A (p.Ala1525Thr)
c.502G>A (p.Ala168Thr)
n.1875G>A
c.4717G>A (p.Ala1573Thr)
c.4693G>A (p.Ala1565Thr)
c.4621G>A (p.Ala1541Thr)
19g.50286638G>CCA406959358MYH14c.4597G>C (p.Ala1533Pro)
c.4696G>C (p.Ala1566Pro)
c.*57G>C (n.*57G>C)
c.4573G>C (p.Ala1525Pro)
c.502G>C (p.Ala168Pro)
n.1875G>C
c.4717G>C (p.Ala1573Pro)
c.4693G>C (p.Ala1565Pro)
c.4621G>C (p.Ala1541Pro)
19g.50286638G>TCA406959359MYH14c.4597G>T (p.Ala1533Ser)
c.4696G>T (p.Ala1566Ser)
c.*57G>T (n.*57G>T)
c.4573G>T (p.Ala1525Ser)
c.502G>T (p.Ala168Ser)
n.1875G>T
c.4717G>T (p.Ala1573Ser)
c.4693G>T (p.Ala1565Ser)
c.4621G>T (p.Ala1541Ser)
gnomAD v4
19g.50286639C>ACA406959360MYH14c.4598C>A (p.Ala1533Asp)
c.4697C>A (p.Ala1566Asp)
c.*58C>A (n.*58C>A)
c.4574C>A (p.Ala1525Asp)
c.503C>A (p.Ala168Asp)
n.1876C>A
c.4718C>A (p.Ala1573Asp)
c.4694C>A (p.Ala1565Asp)
c.4622C>A (p.Ala1541Asp)
dbSNP gnomAD v3 gnomAD v4
19g.50286639C=CA2340825568MYH14c.4598C= (p.Ala1533=)
c.4697C= (p.Ala1566=)
c.*58C= (n.*58C=)
c.4574C= (p.Ala1525=)
c.503C= (p.Ala168=)
n.1876C=
c.4718C= (p.Ala1573=)
c.4694C= (p.Ala1565=)
c.4622C= (p.Ala1541=)
19g.50286639C>GCA406959361MYH14c.4598C>G (p.Ala1533Gly)
c.4697C>G (p.Ala1566Gly)
c.*58C>G (n.*58C>G)
c.4574C>G (p.Ala1525Gly)
c.503C>G (p.Ala168Gly)
n.1876C>G
c.4718C>G (p.Ala1573Gly)
c.4694C>G (p.Ala1565Gly)
c.4622C>G (p.Ala1541Gly)
19g.50286639C>TCA406959362MYH14c.4598C>T (p.Ala1533Val)
c.4697C>T (p.Ala1566Val)
c.*58C>T (n.*58C>T)
c.4574C>T (p.Ala1525Val)
c.503C>T (p.Ala168Val)
n.1876C>T
c.4718C>T (p.Ala1573Val)
c.4694C>T (p.Ala1565Val)
c.4622C>T (p.Ala1541Val)
19g.50286640C>ACA508178049MYH14c.4599C>A (p.Ala1533=)
c.4698C>A (p.Ala1566=)
c.*59C>A (n.*59C>A)
c.4575C>A (p.Ala1525=)
c.504C>A (p.Ala168=)
n.1877C>A
c.4719C>A (p.Ala1573=)
c.4695C>A (p.Ala1565=)
c.4623C>A (p.Ala1541=)
gnomAD v4
19g.50286640C>GCA508178048MYH14c.4599C>G (p.Ala1533=)
c.4698C>G (p.Ala1566=)
c.*59C>G (n.*59C>G)
c.4575C>G (p.Ala1525=)
c.504C>G (p.Ala168=)
n.1877C>G
c.4719C>G (p.Ala1573=)
c.4695C>G (p.Ala1565=)
c.4623C>G (p.Ala1541=)
19g.50286640C>TCA508178050MYH14c.4599C>T (p.Ala1533=)
c.4698C>T (p.Ala1566=)
c.*59C>T (n.*59C>T)
c.4575C>T (p.Ala1525=)
c.504C>T (p.Ala168=)
n.1877C>T
c.4719C>T (p.Ala1573=)
c.4695C>T (p.Ala1565=)
c.4623C>T (p.Ala1541=)
COSMIC COSMIC
19g.50286641C>ACA406959364MYH14c.4600C>A (p.Leu1534Met)
c.4699C>A (p.Leu1567Met)
c.*60C>A (n.*60C>A)
c.4576C>A (p.Leu1526Met)
c.505C>A (p.Leu169Met)
n.1878C>A
c.4720C>A (p.Leu1574Met)
c.4696C>A (p.Leu1566Met)
c.4624C>A (p.Leu1542Met)
gnomAD v4
19g.50286641C>GCA406959366MYH14c.4600C>G (p.Leu1534Val)
c.4699C>G (p.Leu1567Val)
c.*60C>G (n.*60C>G)
c.4576C>G (p.Leu1526Val)
c.505C>G (p.Leu169Val)
n.1878C>G
c.4720C>G (p.Leu1574Val)
c.4696C>G (p.Leu1566Val)
c.4624C>G (p.Leu1542Val)
gnomAD v4
19g.50286641C>TCA508178051MYH14c.4600C>T (p.Leu1534=)
c.4699C>T (p.Leu1567=)
c.*60C>T (n.*60C>T)
c.4576C>T (p.Leu1526=)
c.505C>T (p.Leu169=)
n.1878C>T
c.4720C>T (p.Leu1574=)
c.4696C>T (p.Leu1566=)
c.4624C>T (p.Leu1542=)
19g.50286642T>ACA406959368MYH14c.4601T>A (p.Leu1534Gln)
c.4700T>A (p.Leu1567Gln)
c.*61T>A (n.*61T>A)
c.4577T>A (p.Leu1526Gln)
c.506T>A (p.Leu169Gln)
n.1879T>A
c.4721T>A (p.Leu1574Gln)
c.4697T>A (p.Leu1566Gln)
c.4625T>A (p.Leu1542Gln)
19g.50286642T>CCA9593575MYH14c.4601T>C (p.Leu1534Pro)
c.4700T>C (p.Leu1567Pro)
c.*61T>C (n.*61T>C)
c.4577T>C (p.Leu1526Pro)
c.506T>C (p.Leu169Pro)
n.1879T>C
c.4721T>C (p.Leu1574Pro)
c.4697T>C (p.Leu1566Pro)
c.4625T>C (p.Leu1542Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.50286642T>GCA406959370MYH14c.4601T>G (p.Leu1534Arg)
c.4700T>G (p.Leu1567Arg)
c.*61T>G (n.*61T>G)
c.4577T>G (p.Leu1526Arg)
c.506T>G (p.Leu169Arg)
n.1879T>G
c.4721T>G (p.Leu1574Arg)
c.4697T>G (p.Leu1566Arg)
c.4625T>G (p.Leu1542Arg)
19g.50286642T=CA2340825569MYH14c.4601T= (p.Leu1534=)
c.4700T= (p.Leu1567=)
c.*61T= (n.*61T=)
c.4577T= (p.Leu1526=)
c.506T= (p.Leu169=)
n.1879T=
c.4721T= (p.Leu1574=)
c.4697T= (p.Leu1566=)
c.4625T= (p.Leu1542=)
19g.50286643G>ACA508178052MYH14c.4602G>A (p.Leu1534=)
c.4701G>A (p.Leu1567=)
c.*62G>A (n.*62G>A)
c.4578G>A (p.Leu1526=)
c.507G>A (p.Leu169=)
n.1880G>A
c.4722G>A (p.Leu1574=)
c.4698G>A (p.Leu1566=)
c.4626G>A (p.Leu1542=)
dbSNP gnomAD v2
19g.50286643G>CCA508178053MYH14c.4602G>C (p.Leu1534=)
c.4701G>C (p.Leu1567=)
c.*62G>C (n.*62G>C)
c.4578G>C (p.Leu1526=)
c.507G>C (p.Leu169=)
n.1880G>C
c.4722G>C (p.Leu1574=)
c.4698G>C (p.Leu1566=)
c.4626G>C (p.Leu1542=)
19g.50286643G=CA2340825570MYH14c.4602G= (p.Leu1534=)
c.4701G= (p.Leu1567=)
c.*62G= (n.*62G=)
c.4578G= (p.Leu1526=)
c.507G= (p.Leu169=)
n.1880G=
c.4722G= (p.Leu1574=)
c.4698G= (p.Leu1566=)
c.4626G= (p.Leu1542=)
19g.50286643G>TCA508178054MYH14c.4602G>T (p.Leu1534=)
c.4701G>T (p.Leu1567=)
c.*62G>T (n.*62G>T)
c.4578G>T (p.Leu1526=)
c.507G>T (p.Leu169=)
n.1880G>T
c.4722G>T (p.Leu1574=)
c.4698G>T (p.Leu1566=)
c.4626G>T (p.Leu1542=)
gnomAD v4
19g.50286644C>ACA9593577MYH14c.4603C>A (p.Arg1535=)
c.4702C>A (p.Arg1568=)
c.*63C>A (n.*63C>A)
c.4579C>A (p.Arg1527=)
c.508C>A (p.Arg170=)
n.1881C>A
c.4723C>A (p.Arg1575=)
c.4699C>A (p.Arg1567=)
c.4627C>A (p.Arg1543=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.50286644C=CA2340825571MYH14c.4603C= (p.Arg1535=)
c.4702C= (p.Arg1568=)
c.*63C= (n.*63C=)
c.4579C= (p.Arg1527=)
c.508C= (p.Arg170=)
n.1881C=
c.4723C= (p.Arg1575=)
c.4699C= (p.Arg1567=)
c.4627C= (p.Arg1543=)
19g.50286644C>GCA406959373MYH14c.4603C>G (p.Arg1535Gly)
c.4702C>G (p.Arg1568Gly)
c.*63C>G (n.*63C>G)
c.4579C>G (p.Arg1527Gly)
c.508C>G (p.Arg170Gly)
n.1881C>G
c.4723C>G (p.Arg1575Gly)
c.4699C>G (p.Arg1567Gly)
c.4627C>G (p.Arg1543Gly)
gnomAD v4
19g.50286644C>TCA9593576MYH14c.4603C>T (p.Arg1535Trp)
c.4702C>T (p.Arg1568Trp)
c.*63C>T (n.*63C>T)
c.4579C>T (p.Arg1527Trp)
c.508C>T (p.Arg170Trp)
n.1881C>T
c.4723C>T (p.Arg1575Trp)
c.4699C>T (p.Arg1567Trp)
c.4627C>T (p.Arg1543Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.50286645G>ACA9593578MYH14c.4604G>A (p.Arg1535Gln)
c.4703G>A (p.Arg1568Gln)
c.*64G>A (n.*64G>A)
c.4580G>A (p.Arg1527Gln)
c.509G>A (p.Arg170Gln)
n.1882G>A
c.4724G>A (p.Arg1575Gln)
c.4700G>A (p.Arg1567Gln)
c.4628G>A (p.Arg1543Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.50286645G>CCA406959379MYH14c.4604G>C (p.Arg1535Pro)
c.4703G>C (p.Arg1568Pro)
c.*64G>C (n.*64G>C)
c.4580G>C (p.Arg1527Pro)
c.509G>C (p.Arg170Pro)
n.1882G>C
c.4724G>C (p.Arg1575Pro)
c.4700G>C (p.Arg1567Pro)
c.4628G>C (p.Arg1543Pro)
19g.50286645G=CA2340825572MYH14c.4604G= (p.Arg1535=)
c.4703G= (p.Arg1568=)
c.*64G= (n.*64G=)
c.4580G= (p.Arg1527=)
c.509G= (p.Arg170=)
n.1882G=
c.4724G= (p.Arg1575=)
c.4700G= (p.Arg1567=)
c.4628G= (p.Arg1543=)
19g.50286645G>TCA406959377MYH14c.4604G>T (p.Arg1535Leu)
c.4703G>T (p.Arg1568Leu)
c.*64G>T (n.*64G>T)
c.4580G>T (p.Arg1527Leu)
c.509G>T (p.Arg170Leu)
n.1882G>T
c.4724G>T (p.Arg1575Leu)
c.4700G>T (p.Arg1567Leu)
c.4628G>T (p.Arg1543Leu)
gnomAD v4
19g.50286647dupCA2586548536MYH14c.4606dup (p.Ala1536GlyfsTer2)
c.4705dup (p.Ala1569GlyfsTer2)
c.*66dup (n.*66dup)
c.4582dup (p.Ala1528GlyfsTer2)
c.511dup (p.Ala171GlyfsTer2)
n.1884dup
c.4726dup (p.Ala1576GlyfsTer2)
c.4702dup (p.Ala1568GlyfsTer2)
c.4630dup (p.Ala1544GlyfsTer2)
gnomAD v4
19g.50286646G>ACA508178055MYH14c.4605G>A (p.Arg1535=)
c.4704G>A (p.Arg1568=)
c.*65G>A (n.*65G>A)
c.4581G>A (p.Arg1527=)
c.510G>A (p.Arg170=)
n.1883G>A
c.4725G>A (p.Arg1575=)
c.4701G>A (p.Arg1567=)
c.4629G>A (p.Arg1543=)
19g.50286646G>CCA508178056MYH14c.4605G>C (p.Arg1535=)
c.4704G>C (p.Arg1568=)
c.*65G>C (n.*65G>C)
c.4581G>C (p.Arg1527=)
c.510G>C (p.Arg170=)
n.1883G>C
c.4725G>C (p.Arg1575=)
c.4701G>C (p.Arg1567=)
c.4629G>C (p.Arg1543=)
dbSNP gnomAD v2 gnomAD v4
19g.50286646G=CA2340825573MYH14c.4605G= (p.Arg1535=)
c.4704G= (p.Arg1568=)
c.*65G= (n.*65G=)
c.4581G= (p.Arg1527=)
c.510G= (p.Arg170=)
n.1883G=
c.4725G= (p.Arg1575=)
c.4701G= (p.Arg1567=)
c.4629G= (p.Arg1543=)
19g.50286646G>TCA508178057MYH14c.4605G>T (p.Arg1535=)
c.4704G>T (p.Arg1568=)
c.*65G>T (n.*65G>T)
c.4581G>T (p.Arg1527=)
c.510G>T (p.Arg170=)
n.1883G>T
c.4725G>T (p.Arg1575=)
c.4701G>T (p.Arg1567=)
c.4629G>T (p.Arg1543=)
gnomAD v4
19g.50286647G>ACA406959382MYH14c.4606G>A (p.Ala1536Thr)
c.4705G>A (p.Ala1569Thr)
c.*66G>A (n.*66G>A)
c.4582G>A (p.Ala1528Thr)
c.511G>A (p.Ala171Thr)
n.1884G>A
c.4726G>A (p.Ala1576Thr)
c.4702G>A (p.Ala1568Thr)
c.4630G>A (p.Ala1544Thr)
gnomAD v4
19g.50286647G>CCA406959384MYH14c.4606G>C (p.Ala1536Pro)
c.4705G>C (p.Ala1569Pro)
c.*66G>C (n.*66G>C)
c.4582G>C (p.Ala1528Pro)
c.511G>C (p.Ala171Pro)
n.1884G>C
c.4726G>C (p.Ala1576Pro)
c.4702G>C (p.Ala1568Pro)
c.4630G>C (p.Ala1544Pro)
19g.50286647G=CA2340825574MYH14c.4606G= (p.Ala1536=)
c.4705G= (p.Ala1569=)
c.*66G= (n.*66G=)
c.4582G= (p.Ala1528=)
c.511G= (p.Ala171=)
n.1884G=
c.4726G= (p.Ala1576=)
c.4702G= (p.Ala1568=)
c.4630G= (p.Ala1544=)
19g.50286647G>TCA176915MYH14c.4606G>T (p.Ala1536Ser)
c.4705G>T (p.Ala1569Ser)
c.*66G>T (n.*66G>T)
c.4582G>T (p.Ala1528Ser)
c.511G>T (p.Ala171Ser)
n.1884G>T
c.4726G>T (p.Ala1576Ser)
c.4702G>T (p.Ala1568Ser)
c.4630G>T (p.Ala1544Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched