Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.50286547G>A | CA406958962 | MYH14 | c.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 |
19 | g.50286547G>C | CA406958963 | MYH14 | c.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) | |
19 | g.50286547G>T | CA406958961 | MYH14 | c.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) | |
19 | g.50286548G>A | CA406958965 | MYH14 | c.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 |
19 | g.50286548G>C | CA406958967 | MYH14 | c.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 |
19 | g.50286548G= | CA2340825524 | MYH14 | c.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=) | |
19 | g.50286548G>T | CA406958968 | MYH14 | c.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) | |
19 | g.50286549G>A | CA406958970 | MYH14 | c.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) | |
19 | g.50286549G>C | CA406958971 | MYH14 | c.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) | |
19 | g.50286549G>T | CA406958973 | MYH14 | c.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 |
19 | g.50286549_50286570delinsGCCGGGAGCGTGAGGCTCGGGC | CA2340825525 | MYH14 | c.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=) | |
19 | g.50286550C>A | CA406958975 | MYH14 | c.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=) | |
19 | g.50286550C>G | CA406958977 | MYH14 | c.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=) | |
19 | g.50286550C>T | CA406958976 | MYH14 | c.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=) | |
19 | g.50286551del | CA2580097588 | MYH14 | c.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 |
19 | g.50286552_50286572del | CA2340825526 | MYH14 | c.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 |
19 | g.50286551C>A | CA508177999 | MYH14 | c.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=) | |
19 | g.50286551C= | CA2340825527 | MYH14 | c.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=) | |
19 | g.50286551C>G | CA406958979 | MYH14 | c.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 |
19 | g.50286551C>T | CA9593556 | MYH14 | c.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 |
19 | g.50286552G>A | CA9593557 | MYH14 | c.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 |
19 | g.50286552G>C | CA406958982 | MYH14 | c.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) | |
19 | g.50286552G= | CA2340825528 | MYH14 | c.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=) | |
19 | g.50286552G>T | CA406958984 | MYH14 | c.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) | |
19 | g.50286553G>A | CA406958989 | MYH14 | c.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 |
19 | g.50286553G>C | CA406958991 | MYH14 | c.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=) | |
19 | g.50286553G= | CA2340825529 | MYH14 | c.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=) | |
19 | g.50286553G>T | CA406958987 | MYH14 | c.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=) | |
19 | g.50286554G>A | CA406958994 | MYH14 | c.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) | |
19 | g.50286554G>C | CA406958996 | MYH14 | c.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) | |
19 | g.50286554G>T | CA406958997 | MYH14 | c.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) | |
19 | g.50286555A>C | CA406959000 | MYH14 | c.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) | |
19 | g.50286555A>G | CA406959002 | MYH14 | c.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) | |
19 | g.50286555A>T | CA406959003 | MYH14 | c.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) | |
19 | g.50286556G>A | CA9593558 | MYH14 | c.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 |
19 | g.50286556G>C | CA406959005 | MYH14 | c.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 |
19 | g.50286556G= | CA2340825530 | MYH14 | c.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=) | |
19 | g.50286556G>T | CA406959007 | MYH14 | c.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) | |
19 | g.50286557C>A | CA406959009 | MYH14 | c.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) | |
19 | g.50286557C= | CA2340825531 | MYH14 | c.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=) | |
19 | g.50286557C>G | CA406959011 | MYH14 | c.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 |
19 | g.50286557C>T | CA9593559 | MYH14 | c.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 |
19 | g.50286558G>A | CA9593560 | MYH14 | c.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 |
19 | g.50286558G>C | CA406959015 | MYH14 | c.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) | |
19 | g.50286558G= | CA2340825532 | MYH14 | c.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=) | |
19 | g.50286558G>T | CA406959016 | MYH14 | c.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 |
19 | g.50286559T>A | CA406959018 | MYH14 | c.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=) | |
19 | g.50286559T>C | CA406959020 | MYH14 | c.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 |
19 | g.50286559T>G | CA9593561 | MYH14 | c.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 |
19 | g.50286559T= | CA2340825533 | MYH14 | c.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=) | |
19 | g.50286560G>A | CA406959021 | MYH14 | c.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) | |
19 | g.50286560G>C | CA406959023 | MYH14 | c.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) | |
19 | g.50286560G>T | CA406959025 | MYH14 | c.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) | |
19 | g.50286561A>C | CA406959026 | MYH14 | c.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) | |
19 | g.50286561A>G | CA406959028 | MYH14 | c.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) | |
19 | g.50286561A>T | CA406959030 | MYH14 | c.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) | |
19 | g.50286562G>A | CA406959033 | MYH14 | c.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=) | |
19 | g.50286562G>C | CA406959035 | MYH14 | c.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) | |
19 | g.50286562G>T | CA406959036 | MYH14 | c.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) | |
19 | g.50286563G>A | CA406959038 | MYH14 | c.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 |
19 | g.50286563G>C | CA406959040 | MYH14 | c.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) | |
19 | g.50286563G= | CA2340825534 | MYH14 | c.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=) | |
19 | g.50286563G>T | CA406959042 | MYH14 | c.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 |
19 | g.50286564C>A | CA406959044 | MYH14 | c.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) | |
19 | g.50286564C= | CA2340825535 | MYH14 | c.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=) | |
19 | g.50286564C>G | CA406959048 | MYH14 | c.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) | |
19 | g.50286564C>T | CA406959046 | MYH14 | c.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 |
19 | g.50286565T>A | CA406959049 | MYH14 | c.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=) | |
19 | g.50286565T>C | CA406959051 | MYH14 | c.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=) | |
19 | g.50286565T>G | CA406959053 | MYH14 | c.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=) | |
19 | g.50286566C>A | CA508178003 | MYH14 | c.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 |
19 | g.50286566C= | CA2340825536 | MYH14 | c.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=) | |
19 | g.50286566C>G | CA406959054 | MYH14 | c.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) | |
19 | g.50286566C>T | CA309579815 | MYH14 | c.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 |
19 | g.50286567G>A | CA9593562 | MYH14 | c.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 |
19 | g.50286567G>C | CA406959059 | MYH14 | c.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) | |
19 | g.50286567G= | CA2340825537 | MYH14 | c.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=) | |
19 | g.50286567G>T | CA406959061 | MYH14 | c.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 |
19 | g.50286569dup | CA406959056 | MYH14 | c.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 |
19 | g.50286568G>A | CA9593563 | MYH14 | c.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 |
19 | g.50286568G>C | CA406959064 | MYH14 | c.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=) | |
19 | g.50286568G= | CA2340825538 | MYH14 | c.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=) | |
19 | g.50286568G>T | CA406959065 | MYH14 | c.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 |
19 | g.50286569G>A | CA406959069 | MYH14 | c.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 |
19 | g.50286569G>C | CA406959071 | MYH14 | c.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) | |
19 | g.50286569G>T | CA406959067 | MYH14 | c.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 |
19 | g.50286570C>A | CA406959074 | MYH14 | c.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 |
19 | g.50286570C>G | CA406959076 | MYH14 | c.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 |
19 | g.50286570C>T | CA406959077 | MYH14 | c.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 |
19 | g.50286571C>A | CA406959079 | MYH14 | c.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=) | |
19 | g.50286571C>G | CA406959081 | MYH14 | c.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=) | |
19 | g.50286571C>T | CA406959083 | MYH14 | c.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=) | |
19 | g.50286572C>A | CA406959085 | MYH14 | c.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 |
19 | g.50286572C= | CA2340825539 | MYH14 | c.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=) | |
19 | g.50286572C>G | CA406959087 | MYH14 | c.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) | |
19 | g.50286572C>T | CA508178004 | MYH14 | c.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 |
19 | g.50286572_50286573insG | CA2576861750 | MYH14 | c.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) | |
19 | g.50286573T>A | CA406959089 | MYH14 | c.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) | |
19 | g.50286573T>C | CA406959091 | MYH14 | c.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 |
19 | g.50286573T>G | CA406959093 | MYH14 | c.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) | |
19 | g.50286573T= | CA2340825540 | MYH14 | c.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=) | |
19 | g.50286574G>A | CA406959095 | MYH14 | c.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 |
19 | g.50286574G>C | CA406959097 | MYH14 | c.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=) | |
19 | g.50286574G= | CA2340825541 | MYH14 | c.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=) | |
19 | g.50286574G>T | CA406959099 | MYH14 | c.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 |
19 | g.50286575T>A | CA406959105 | MYH14 | c.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) | |
19 | g.50286575T>C | CA406959103 | MYH14 | c.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) | |
19 | g.50286575T>G | CA406959101 | MYH14 | c.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) | |
19 | g.50286576C>A | CA406959108 | MYH14 | c.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 |
19 | g.50286576C= | CA2340825542 | MYH14 | c.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=) | |
19 | g.50286576C>G | CA406959107 | MYH14 | c.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) | |
19 | g.50286576C>T | CA9593564 | MYH14 | c.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 |
19 | g.50286577A>C | CA406959111 | MYH14 | c.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=) | |
19 | g.50286577A>G | CA406959113 | MYH14 | c.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=) | |
19 | g.50286577A>T | CA406959112 | MYH14 | c.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=) | |
19 | g.50286578C>A | CA406959115 | MYH14 | c.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) | |
19 | g.50286578C= | CA2340825543 | MYH14 | c.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=) | |
19 | g.50286578C>G | CA406959118 | MYH14 | c.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) | |
19 | g.50286578C>T | CA508178006 | MYH14 | c.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 |
19 | g.50286579del | CA2576861751 | MYH14 | c.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) | |
19 | g.50286579T>A | CA406959120 | MYH14 | c.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) | |
19 | g.50286579T>C | CA406959122 | MYH14 | c.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) | |
19 | g.50286579T>G | CA406959124 | MYH14 | c.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) | |
19 | g.50286580G>A | CA508178007 | MYH14 | c.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=) | |
19 | g.50286580G>C | CA406959126 | MYH14 | c.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=) | |
19 | g.50286580G>T | CA406959127 | MYH14 | c.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=) | |
19 | g.50286581A>C | CA406959133 | MYH14 | c.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) | |
19 | g.50286581A>G | CA406959129 | MYH14 | c.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) | |
19 | g.50286581A>T | CA406959131 | MYH14 | c.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) | |
19 | g.50286582C>A | CA406959135 | MYH14 | c.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 |
19 | g.50286582C>G | CA406959136 | MYH14 | c.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 |
19 | g.50286582C>T | CA406959138 | MYH14 | c.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 |
19 | g.50286583A>C | CA508178008 | MYH14 | c.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=) | |
19 | g.50286583A>G | CA508178010 | MYH14 | c.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 |
19 | g.50286583A>T | CA508178009 | MYH14 | c.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=) | |
19 | g.50286584del | CA2576861752 | MYH14 | c.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) | |
19 | g.50286584C>A | CA508178011 | MYH14 | c.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 |
19 | g.50286584C= | CA2340825544 | MYH14 | c.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=) | |
19 | g.50286584C>G | CA406959140 | MYH14 | c.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 |
19 | g.50286584C>T | CA309579839 | MYH14 | c.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 |
19 | g.50286585G>A | CA406959142 | MYH14 | c.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 |
19 | g.50286585G>C | CA406959146 | MYH14 | c.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) | |
19 | g.50286585G= | CA2340825545 | MYH14 | c.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=) | |
19 | g.50286585G>T | CA406959144 | MYH14 | c.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) | |
19 | g.50286586G>A | CA508178012 | MYH14 | c.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=) | |
19 | g.50286586G>C | CA508178013 | MYH14 | c.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=) | |
19 | g.50286586G>T | CA508178014 | MYH14 | c.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=) | |
19 | g.50286587G>A | CA406959147 | MYH14 | c.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 |
19 | g.50286587G>C | CA406959148 | MYH14 | c.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) | |
19 | g.50286587G= | CA2340825546 | MYH14 | c.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=) | |
19 | g.50286587G>T | CA406959149 | MYH14 | c.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 |
19 | g.50286588C>A | CA406959151 | MYH14 | c.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) | |
19 | g.50286588C>G | CA406959152 | MYH14 | c.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) | |
19 | g.50286588C>T | CA406959153 | MYH14 | c.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) | |
19 | g.50286589A>C | CA508178015 | MYH14 | c.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=) | |
19 | g.50286589A>G | CA508178016 | MYH14 | c.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=) | |
19 | g.50286589A>T | CA508178017 | MYH14 | c.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=) | |
19 | g.50286590C>A | CA406959156 | MYH14 | c.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) | |
19 | g.50286590C= | CA2340825547 | MYH14 | c.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=) | |
19 | g.50286590C>G | CA406959158 | MYH14 | c.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 |
19 | g.50286590C>T | CA508178018 | MYH14 | c.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=) | |
19 | g.50286591T>A | CA406959160 | MYH14 | c.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) | |
19 | g.50286591T>C | CA406959162 | MYH14 | c.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 |
19 | g.50286591T>G | CA406959164 | MYH14 | c.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) | |
19 | g.50286592G>A | CA508178021 | MYH14 | c.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 |
19 | g.50286592G>C | CA508178019 | MYH14 | c.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=) | |
19 | g.50286592G= | CA2340825548 | MYH14 | c.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=) | |
19 | g.50286592G>T | CA508178020 | MYH14 | c.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=) | |
19 | g.50286593G>A | CA406959166 | MYH14 | c.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 |
19 | g.50286593G>C | CA406959170 | MYH14 | c.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) | |
19 | g.50286593G= | CA2340825549 | MYH14 | c.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=) | |
19 | g.50286593G>T | CA406959168 | MYH14 | c.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) | |
19 | g.50286594A>C | CA406959172 | MYH14 | c.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) | |
19 | g.50286594A>G | CA406959174 | MYH14 | c.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) | |
19 | g.50286594A>T | CA406959175 | MYH14 | c.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) | |
19 | g.50286595G>A | CA508178022 | MYH14 | c.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=) | |
19 | g.50286595G>C | CA406959177 | MYH14 | c.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) | |
19 | g.50286595G>T | CA406959179 | MYH14 | c.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) | |
19 | g.50286596G>A | CA406959181 | MYH14 | c.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 |
19 | g.50286596G>C | CA406959182 | MYH14 | c.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) | |
19 | g.50286596G= | CA2340825550 | MYH14 | c.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=) | |
19 | g.50286596G>T | CA406959184 | MYH14 | c.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) | |
19 | g.50286597A>C | CA406959185 | MYH14 | c.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) | |
19 | g.50286597A>G | CA406959186 | MYH14 | c.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) | |
19 | g.50286597A>T | CA406959188 | MYH14 | c.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) | |
19 | g.50286598G>A | CA9593565 | MYH14 | c.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 |
19 | g.50286598G>C | CA406959193 | MYH14 | c.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) | |
19 | g.50286598G= | CA2340825551 | MYH14 | c.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=) | |
19 | g.50286598G>T | CA406959190 | MYH14 | c.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) | |
19 | g.50286599G>A | CA406959196 | MYH14 | c.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 |
19 | g.50286599G>C | CA406959198 | MYH14 | c.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) | |
19 | g.50286599G>T | CA406959200 | MYH14 | c.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) | |
19 | g.50286600A>C | CA406959202 | MYH14 | c.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) | |
19 | g.50286600A>G | CA406959204 | MYH14 | c.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) | |
19 | g.50286600A>T | CA406959206 | MYH14 | c.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) | |
19 | g.50286601G>A | CA508178023 | MYH14 | c.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 |
19 | g.50286601G>C | CA406959208 | MYH14 | c.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) | |
19 | g.50286601G= | CA2340825552 | MYH14 | c.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=) | |
19 | g.50286601G>T | CA406959210 | MYH14 | c.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 |
19 | g.50286602C>A | CA9593566 | MYH14 | c.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 |
19 | g.50286602C= | CA2340825553 | MYH14 | c.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=) | |
19 | g.50286602C>G | CA406959212 | MYH14 | c.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) | |
19 | g.50286602C>T | CA406959214 | MYH14 | c.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) | |
19 | g.50286603A>C | CA406959220 | MYH14 | c.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) | |
19 | g.50286603A>G | CA406959218 | MYH14 | c.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 |
19 | g.50286603A>T | CA406959217 | MYH14 | c.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) | |
19 | g.50286604G>A | CA508178024 | MYH14 | c.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=) | |
19 | g.50286604G>C | CA406959222 | MYH14 | c.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) | |
19 | g.50286604G>T | CA406959224 | MYH14 | c.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) | |
19 | g.50286605G>A | CA406959225 | MYH14 | c.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 |
19 | g.50286605G>C | CA406959227 | MYH14 | c.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) | |
19 | g.50286605G= | CA2340825554 | MYH14 | c.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=) | |
19 | g.50286605G>T | CA406959229 | MYH14 | c.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) | |
19 | g.50286606A>C | CA406959231 | MYH14 | c.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 |
19 | g.50286606A>G | CA406959233 | MYH14 | c.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) | |
19 | g.50286606A>T | CA406959235 | MYH14 | c.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) | |
19 | g.50286607G>A | CA508178025 | MYH14 | c.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=) | |
19 | g.50286607G>C | CA406959237 | MYH14 | c.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 |
19 | g.50286607G>T | CA406959239 | MYH14 | c.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) | |
19 | g.50286608G>A | CA9593567 | MYH14 | c.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 |
19 | g.50286608G>C | CA406959242 | MYH14 | c.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) | |
19 | g.50286608G= | CA2340825555 | MYH14 | c.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=) | |
19 | g.50286608G>T | CA406959244 | MYH14 | c.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) | |
19 | g.50286609C>A | CA406959250 | MYH14 | c.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) | |
19 | g.50286609C= | CA2340825556 | MYH14 | c.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=) | |
19 | g.50286609C>G | CA406959248 | MYH14 | c.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) | |
19 | g.50286609C>T | CA406959246 | MYH14 | c.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 |
19 | g.50286610A>C | CA508178026 | MYH14 | c.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=) | |
19 | g.50286610A>G | CA508178027 | MYH14 | c.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 |
19 | g.50286610A>T | CA508178028 | MYH14 | c.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=) | |
19 | g.50286611C>A | CA406959252 | MYH14 | c.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) | |
19 | g.50286611C= | CA2340825557 | MYH14 | c.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=) | |
19 | g.50286611C>G | CA406959254 | MYH14 | c.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 |
19 | g.50286611C>T | CA9593568 | MYH14 | c.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 |
19 | g.50286612G>A | CA9593569 | MYH14 | c.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 |
19 | g.50286612G>C | CA406959258 | MYH14 | c.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 |
19 | g.50286612G= | CA2340825558 | MYH14 | c.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=) | |
19 | g.50286612G>T | CA9593570 | MYH14 | c.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 |
19 | g.50286613T>A | CA508178031 | MYH14 | c.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 |
19 | g.50286613T>C | CA508178029 | MYH14 | c.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 |
19 | g.50286613T>G | CA508178030 | MYH14 | c.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=) | |
19 | g.50286613T= | CA2340825559 | MYH14 | c.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=) | |
19 | g.50286614G>A | CA406959261 | MYH14 | c.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) | |
19 | g.50286614G>C | CA406959263 | MYH14 | c.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) | |
19 | g.50286614G>T | CA406959264 | MYH14 | c.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) | |
19 | g.50286615A>C | CA406959267 | MYH14 | c.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) | |
19 | g.50286615A>G | CA406959269 | MYH14 | c.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) | |
19 | g.50286615A>T | CA406959270 | MYH14 | c.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) | |
19 | g.50286616G>A | CA508178032 | MYH14 | c.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 |
19 | g.50286616G>C | CA406959274 | MYH14 | c.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) | |
19 | g.50286616G= | CA2340825560 | MYH14 | c.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=) | |
19 | g.50286616G>T | CA406959273 | MYH14 | c.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) | |
19 | g.50286617G>A | CA406959276 | MYH14 | c.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 |
19 | g.50286617G>C | CA406959278 | MYH14 | c.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) | |
19 | g.50286617G>T | CA406959280 | MYH14 | c.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) | |
19 | g.50286618A= | CA2340825561 | MYH14 | c.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=) | |
19 | g.50286618A>C | CA406959282 | MYH14 | c.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) | |
19 | g.50286618A>G | CA406959284 | MYH14 | c.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) | |
19 | g.50286618A>T | CA309579870 | MYH14 | c.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 |
19 | g.50286619G>A | CA508178033 | MYH14 | c.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=) | |
19 | g.50286619G>C | CA406959287 | MYH14 | c.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) | |
19 | g.50286619G>T | CA406959288 | MYH14 | c.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) | |
19 | g.50286620C>A | CA406959290 | MYH14 | c.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 |
19 | g.50286620C>G | CA406959292 | MYH14 | c.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) | |
19 | g.50286620C>T | CA508178034 | MYH14 | c.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 |
19 | g.50286621T>A | CA406959293 | MYH14 | c.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) | |
19 | g.50286621T>C | CA406959295 | MYH14 | c.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 |
19 | g.50286621T>G | CA406959296 | MYH14 | c.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) | |
19 | g.50286622G>A | CA508178035 | MYH14 | c.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 |
19 | g.50286622G>C | CA508178036 | MYH14 | c.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=) | |
19 | g.50286622G= | CA2340825562 | MYH14 | c.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=) | |
19 | g.50286622G>T | CA508178037 | MYH14 | c.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=) | |
19 | g.50286623G>A | CA10643139 | MYH14 | c.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 |
19 | g.50286623G>C | CA406959298 | MYH14 | c.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 |
19 | g.50286623G= | CA2340825563 | MYH14 | c.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=) | |
19 | g.50286623G>T | CA406959299 | MYH14 | c.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) | |
19 | g.50286624A>C | CA406959301 | MYH14 | c.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) | |
19 | g.50286624A>G | CA406959303 | MYH14 | c.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 |
19 | g.50286624A>T | CA406959305 | MYH14 | c.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) | |
19 | g.50286625G>A | CA508178038 | MYH14 | c.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 |
19 | g.50286625G>C | CA406959307 | MYH14 | c.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) | |
19 | g.50286625G>T | CA406959309 | MYH14 | c.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 |
19 | g.50286626C>A | CA508178039 | MYH14 | c.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 |
19 | g.50286626C= | CA2340825564 | MYH14 | c.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=) | |
19 | g.50286626C>G | CA406959311 | MYH14 | c.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) | |
19 | g.50286626C>T | CA9593571 | MYH14 | c.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 |
19 | g.50286627G>A | CA182293 | MYH14 | c.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 |
19 | g.50286627G>C | CA406959315 | MYH14 | c.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) | |
19 | g.50286627G= | CA2340825565 | MYH14 | c.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=) | |
19 | g.50286627G>T | CA406959316 | MYH14 | c.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) | |
19 | g.50286628G>A | CA508178040 | MYH14 | c.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 |
19 | g.50286628G>C | CA508178041 | MYH14 | c.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=) | |
19 | g.50286628G>T | CA508178042 | MYH14 | c.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=) | |
19 | g.50286629C>A | CA406959319 | MYH14 | c.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) | |
19 | g.50286629C>G | CA406959321 | MYH14 | c.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) | |
19 | g.50286629C>T | CA406959322 | MYH14 | c.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) | |
19 | g.50286630A>C | CA406959326 | MYH14 | c.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) | |
19 | g.50286630A>G | CA406959328 | MYH14 | c.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) | |
19 | g.50286630A>T | CA406959325 | MYH14 | c.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) | |
19 | g.50286631G>A | CA508178043 | MYH14 | c.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=) | |
19 | g.50286631G>C | CA406959330 | MYH14 | c.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) | |
19 | g.50286631G>T | CA406959332 | MYH14 | c.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 |
19 | g.50286632A>C | CA406959334 | MYH14 | c.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) | |
19 | g.50286632A>G | CA406959336 | MYH14 | c.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) | |
19 | g.50286632A>T | CA406959338 | MYH14 | c.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) | |
19 | g.50286633A>C | CA406959340 | MYH14 | c.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) | |
19 | g.50286633A>G | CA406959342 | MYH14 | c.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) | |
19 | g.50286633A>T | CA406959343 | MYH14 | c.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) | |
19 | g.50286634C>A | CA406959345 | MYH14 | c.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 |
19 | g.50286634C>G | CA406959347 | MYH14 | c.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) | |
19 | g.50286634C>T | CA508178044 | MYH14 | c.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=) | |
19 | g.50286635C>A | CA9593572 | MYH14 | c.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 |
19 | g.50286635C= | CA2340825566 | MYH14 | c.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=) | |
19 | g.50286635C>G | CA406959350 | MYH14 | c.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 |
19 | g.50286635C>T | CA9593573 | MYH14 | c.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 |
19 | g.50286636G>A | CA9593574 | MYH14 | c.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 |
19 | g.50286636G>C | CA406959353 | MYH14 | c.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) | |
19 | g.50286636G= | CA2340825567 | MYH14 | c.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=) | |
19 | g.50286636G>T | CA406959351 | MYH14 | c.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 |
19 | g.50286637G>A | CA508178045 | MYH14 | c.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=) | |
19 | g.50286637G>C | CA508178046 | MYH14 | c.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=) | |
19 | g.50286637G>T | CA508178047 | MYH14 | c.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=) | |
19 | g.50286638G>A | CA406959356 | MYH14 | c.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) | |
19 | g.50286638G>C | CA406959358 | MYH14 | c.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) | |
19 | g.50286638G>T | CA406959359 | MYH14 | c.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 |
19 | g.50286639C>A | CA406959360 | MYH14 | c.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 |
19 | g.50286639C= | CA2340825568 | MYH14 | c.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=) | |
19 | g.50286639C>G | CA406959361 | MYH14 | c.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) | |
19 | g.50286639C>T | CA406959362 | MYH14 | c.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) | |
19 | g.50286640C>A | CA508178049 | MYH14 | c.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 |
19 | g.50286640C>G | CA508178048 | MYH14 | c.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=) | |
19 | g.50286640C>T | CA508178050 | MYH14 | c.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 |
19 | g.50286641C>A | CA406959364 | MYH14 | c.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 |
19 | g.50286641C>G | CA406959366 | MYH14 | c.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 |
19 | g.50286641C>T | CA508178051 | MYH14 | c.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=) | |
19 | g.50286642T>A | CA406959368 | MYH14 | c.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) | |
19 | g.50286642T>C | CA9593575 | MYH14 | c.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 |
19 | g.50286642T>G | CA406959370 | MYH14 | c.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) | |
19 | g.50286642T= | CA2340825569 | MYH14 | c.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=) | |
19 | g.50286643G>A | CA508178052 | MYH14 | c.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 |
19 | g.50286643G>C | CA508178053 | MYH14 | c.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=) | |
19 | g.50286643G= | CA2340825570 | MYH14 | c.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=) | |
19 | g.50286643G>T | CA508178054 | MYH14 | c.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 |
19 | g.50286644C>A | CA9593577 | MYH14 | c.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 |
19 | g.50286644C= | CA2340825571 | MYH14 | c.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=) | |
19 | g.50286644C>G | CA406959373 | MYH14 | c.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 |
19 | g.50286644C>T | CA9593576 | MYH14 | c.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 |
19 | g.50286645G>A | CA9593578 | MYH14 | c.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 |
19 | g.50286645G>C | CA406959379 | MYH14 | c.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) | |
19 | g.50286645G= | CA2340825572 | MYH14 | c.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=) | |
19 | g.50286645G>T | CA406959377 | MYH14 | c.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 |
19 | g.50286647dup | CA2586548536 | MYH14 | c.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 |
19 | g.50286646G>A | CA508178055 | MYH14 | c.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=) | |
19 | g.50286646G>C | CA508178056 | MYH14 | c.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 |
19 | g.50286646G= | CA2340825573 | MYH14 | c.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=) | |
19 | g.50286646G>T | CA508178057 | MYH14 | c.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 |
19 | g.50286647G>A | CA406959382 | MYH14 | c.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 |
19 | g.50286647G>C | CA406959384 | MYH14 | c.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) | |
19 | g.50286647G= | CA2340825574 | MYH14 | c.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=) | |
19 | g.50286647G>T | CA176915 | MYH14 | c.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 |