Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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) | 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=) |