Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47341237del | CA011173 | MYBPC3 | c.1800del (p.Lys600AsnfsTer2) c.1782del (p.Lys594AsnfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47341237T>A | CA380324071 | MYBPC3 | c.1798A>T (p.Lys600Ter) c.1780A>T (p.Lys594Ter) | |
11 | g.47341237T>C | CA380324069 | MYBPC3 | c.1798A>G (p.Lys600Glu) c.1780A>G (p.Lys594Glu) | gnomAD v4 |
11 | g.47341237T>G | CA380324073 | MYBPC3 | c.1798A>C (p.Lys600Gln) c.1780A>C (p.Lys594Gln) | |
11 | g.47341238del | CA2695212781 | MYBPC3 | c.1797del (p.His599GlnfsTer3) c.1779del (p.His593GlnfsTer3) | |
11 | g.47341238G>A | CA474218303 | MYBPC3 | c.1797C>T (p.His599=) c.1779C>T (p.His593=) | dbSNP gnomAD v2 |
11 | g.47341238G>C | CA380324075 | MYBPC3 | c.1797C>G (p.His599Gln) c.1779C>G (p.His593Gln) | gnomAD v4 |
11 | g.47341238G= | CA1969334758 | MYBPC3 | c.1797C= (p.His599=) c.1779C= (p.His593=) | |
11 | g.47341238G>T | CA380324077 | MYBPC3 | c.1797C>A (p.His599Gln) c.1779C>A (p.His593Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47341239T>A | CA380324079 | MYBPC3 | c.1796A>T (p.His599Leu) c.1778A>T (p.His593Leu) | |
11 | g.47341239T>C | CA380324081 | MYBPC3 | c.1796A>G (p.His599Arg) c.1778A>G (p.His593Arg) | |
11 | g.47341239T>G | CA380324083 | MYBPC3 | c.1796A>C (p.His599Pro) c.1778A>C (p.His593Pro) | |
11 | g.47341240G>A | CA380324085 | MYBPC3 | c.1795C>T (p.His599Tyr) c.1777C>T (p.His593Tyr) | gnomAD v4 |
11 | g.47341240G>C | CA380324087 | MYBPC3 | c.1795C>G (p.His599Asp) c.1777C>G (p.His593Asp) | |
11 | g.47341240G>T | CA380324088 | MYBPC3 | c.1795C>A (p.His599Asn) c.1777C>A (p.His593Asn) | |
11 | g.47341241del | CA2613399573 | MYBPC3 | c.1795del (p.His599ThrfsTer3) c.1777del (p.His593ThrfsTer3) | gnomAD v4 |
11 | g.47341241G>A | CA474218318 | MYBPC3 | c.1794C>T (p.Val598=) c.1776C>T (p.Val592=) | |
11 | g.47341241G>C | CA474218321 | MYBPC3 | c.1794C>G (p.Val598=) c.1776C>G (p.Val592=) | |
11 | g.47341241G>T | CA474218322 | MYBPC3 | c.1794C>A (p.Val598=) c.1776C>A (p.Val592=) | gnomAD v4 |
11 | g.47341242A>C | CA380324090 | MYBPC3 | c.1793T>G (p.Val598Gly) c.1775T>G (p.Val592Gly) | |
11 | g.47341242A>G | CA380324092 | MYBPC3 | c.1793T>C (p.Val598Ala) c.1775T>C (p.Val592Ala) | gnomAD v4 |
11 | g.47341242A>T | CA380324094 | MYBPC3 | c.1793T>A (p.Val598Asp) c.1775T>A (p.Val592Asp) | gnomAD v4 |
11 | g.47341242_47341243delinsAC | CA1969334760 | MYBPC3 | c.1792_1793delinsGT (p.Val598=) c.1774_1775delinsGT (p.Val592=) | |
11 | g.47341243C>A | CA380324102 | MYBPC3 | c.1792G>T (p.Val598Phe) c.1774G>T (p.Val592Phe) | gnomAD v4 |
11 | g.47341243C= | CA1969334761 | MYBPC3 | c.1792G= (p.Val598=) c.1774G= (p.Val592=) | |
11 | g.47341243C>G | CA380324100 | MYBPC3 | c.1792G>C (p.Val598Leu) c.1774G>C (p.Val592Leu) | |
11 | g.47341243C>T | CA380324096 | MYBPC3 | c.1792G>A (p.Val598Ile) c.1774G>A (p.Val592Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47341245del | CA011164 | MYBPC3 | c.1792del c.1774del | ClinVar dbSNP |
11 | g.47341244C>A | CA474218331 | MYBPC3 | c.1791G>T (p.Arg597=) c.1773G>T (p.Arg591=) | ClinVar dbSNP gnomAD v4 |
11 | g.47341244C= | CA1969334763 | MYBPC3 | c.1791G= (p.Arg597=) c.1773G= (p.Arg591=) | |
11 | g.47341244C>G | CA078301 | MYBPC3 | c.1791G>C (p.Arg597=) c.1773G>C (p.Arg591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47341244C>T | CA474218329 | MYBPC3 | c.1791G>A (p.Arg597=) c.1773G>A (p.Arg591=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47341245C>A | CA380324107 | MYBPC3 | c.1791-1G>T (n.1791-1G>T) c.1773-1G>T (n.1773-1G>T) | gnomAD v4 |
11 | g.47341245C>G | CA380324108 | MYBPC3 | c.1791-1G>C (n.1791-1G>C) c.1773-1G>C (n.1773-1G>C) | |
11 | g.47341245C>T | CA380324110 | MYBPC3 | c.1791-1G>A (n.1791-1G>A) c.1773-1G>A (n.1773-1G>A) | ClinVar dbSNP |
11 | g.47341246del | CA2573332630 | MYBPC3 | c.1791-2del (n.1791-2del) c.1773-2del (n.1773-2del) | ClinVar |
11 | g.47341246T>A | CA380324113 | MYBPC3 | c.1791-2A>T (n.1791-2A>T) c.1773-2A>T (n.1773-2A>T) | gnomAD v4 |
11 | g.47341246T>C | CA380324115 | MYBPC3 | c.1791-2A>G (n.1791-2A>G) c.1773-2A>G (n.1773-2A>G) | gnomAD v4 |
11 | g.47341246T>G | CA011151 | MYBPC3 | c.1791-2A>C (n.1791-2A>C) c.1773-2A>C (n.1773-2A>C) | ClinVar dbSNP gnomAD v4 |
11 | g.47341246T= | CA1969334766 | MYBPC3 | c.1791-2A= (n.1791-2A=) c.1773-2A= (n.1773-2A=) | |
11 | g.47341247G>A | CA2613399670 | MYBPC3 | c.1791-3C>T (n.1791-3C>T) c.1773-3C>T (n.1773-3C>T) | gnomAD v4 |
11 | g.47341247G>T | CA2613399675 | MYBPC3 | c.1791-3C>A (n.1791-3C>A) c.1773-3C>A (n.1773-3C>A) | gnomAD v4 |
11 | g.47341248C>A | CA2613399678 | MYBPC3 | c.1791-4G>T (n.1791-4G>T) c.1773-4G>T (n.1773-4G>T) | gnomAD v4 |
11 | g.47341248C>T | CA2613399679 | MYBPC3 | c.1791-4G>A (n.1791-4G>A) c.1773-4G>A (n.1773-4G>A) | gnomAD v4 |
11 | g.47341248_47341249insCCG | CA2791323310 | MYBPC3 | c.1791-5_1791-4insCGG (n.1791-5_1791-4insCGG) c.1773-5_1773-4insCGG (n.1773-5_1773-4insCGG) | |
11 | g.47341249A>C | CA2573147068 | MYBPC3 | c.1791-5T>G (n.1791-5T>G) c.1773-5T>G (n.1773-5T>G) | ClinVar dbSNP |
11 | g.47341249A>G | CA2613399680 | MYBPC3 | c.1791-5T>C (n.1791-5T>C) c.1773-5T>C (n.1773-5T>C) | gnomAD v4 |
11 | g.47341249_47341250insT | CA2791323311 | MYBPC3 | c.1791-6_1791-5insA (n.1791-6_1791-5insA) c.1773-6_1773-5insA (n.1773-6_1773-5insA) | |
11 | g.47341250G>A | CA2613399690 | MYBPC3 | c.1791-6C>T (n.1791-6C>T) c.1773-6C>T (n.1773-6C>T) | gnomAD v4 |
11 | g.47341250G>T | CA2613399694 | MYBPC3 | c.1791-6C>A (n.1791-6C>A) c.1773-6C>A (n.1773-6C>A) | gnomAD v4 |