Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23415255_23415272del | CA2573149769 | MYH7 | c.5285_5302del | ClinVar dbSNP |
14 | g.23415262C>A | CA389035944 | MYH7 | c.5292G>T (p.Met1764Ile) | |
14 | g.23415262C>G | CA389035946 | MYH7 | c.5292G>C (p.Met1764Ile) | |
14 | g.23415262C>T | CA389035948 | MYH7 | c.5292G>A (p.Met1764Ile) | ClinVar gnomAD v4 |
14 | g.23415263A= | CA2123462685 | MYH7 | c.5291T= (p.Met1764=) | |
14 | g.23415263A>C | CA389035950 | MYH7 | c.5291T>G (p.Met1764Arg) | |
14 | g.23415263A>G | CA389035951 | MYH7 | c.5291T>C (p.Met1764Thr) | ClinVar dbSNP gnomAD v4 |
14 | g.23415263A>T | CA389035953 | MYH7 | c.5291T>A (p.Met1764Lys) | dbSNP |
14 | g.23415264T>A | CA389035959 | MYH7 | c.5290A>T (p.Met1764Leu) | gnomAD v4 |
14 | g.23415264T>C | CA389035957 | MYH7 | c.5290A>G (p.Met1764Val) | |
14 | g.23415264T>G | CA389035955 | MYH7 | c.5290A>C (p.Met1764Leu) | |
14 | g.23415265G>A | CA485765917 | MYH7 | c.5289C>T (p.Ala1763=) | dbSNP |
14 | g.23415265G>C | CA485765918 | MYH7 | c.5289C>G (p.Ala1763=) | |
14 | g.23415265G= | CA2123462693 | MYH7 | c.5289C= (p.Ala1763=) | |
14 | g.23415265G>T | CA485765919 | MYH7 | c.5289C>A (p.Ala1763=) | |
14 | g.23415266G>A | CA046126 | MYH7 | c.5288C>T (p.Ala1763Val) | dbSNP ExAC gnomAD v2 |
14 | g.23415266G>C | CA389035962 | MYH7 | c.5288C>G (p.Ala1763Gly) | |
14 | g.23415266G= | CA2123462697 | MYH7 | c.5288C= (p.Ala1763=) | |
14 | g.23415266G>T | CA389035964 | MYH7 | c.5288C>A (p.Ala1763Asp) | |
14 | g.23415267C>A | CA389035966 | MYH7 | c.5287G>T (p.Ala1763Ser) | ClinVar dbSNP gnomAD v4 |
14 | g.23415267C= | CA2123462710 | MYH7 | c.5287G= (p.Ala1763=) | |
14 | g.23415267C>G | CA389035968 | MYH7 | c.5287G>C (p.Ala1763Pro) | |
14 | g.23415267C>T | CA015861 | MYH7 | c.5287G>A (p.Ala1763Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23415268G>A | CA046092 | MYH7 | c.5286C>T (p.Ala1762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23415268G>C | CA485765923 | MYH7 | c.5286C>G (p.Ala1762=) | |
14 | g.23415268G= | CA2123462713 | MYH7 | c.5286C= (p.Ala1762=) | |
14 | g.23415268G>T | CA046082 | MYH7 | c.5286C>A (p.Ala1762=) | dbSNP ExAC gnomAD v2 |
14 | g.23415269del | CA2624232153 | MYH7 | c.5286del (p.Ala1763ProfsTer2) | gnomAD v4 |
14 | g.23415269G>A | CA389035974 | MYH7 | c.5285C>T (p.Ala1762Val) | dbSNP |
14 | g.23415269G>C | CA389035976 | MYH7 | c.5285C>G (p.Ala1762Gly) | |
14 | g.23415269G= | CA2123462719 | MYH7 | c.5285C= (p.Ala1762=) | |
14 | g.23415269G>T | CA389035977 | MYH7 | c.5285C>A (p.Ala1762Asp) | |
14 | g.23415270C>A | CA389035980 | MYH7 | c.5284G>T (p.Ala1762Ser) | |
14 | g.23415270C= | CA2123462723 | MYH7 | c.5284G= (p.Ala1762=) | |
14 | g.23415270C>G | CA389035981 | MYH7 | c.5284G>C (p.Ala1762Pro) | |
14 | g.23415270C>T | CA389035983 | MYH7 | c.5284G>A (p.Ala1762Thr) | dbSNP |
14 | g.23415271C>A | CA389035987 | MYH7 | c.5284-1G>T (n.5284-1G>T) | dbSNP |
14 | g.23415271C= | CA2123462727 | MYH7 | c.5284-1G= (n.5284-1G=) | |
14 | g.23415271C>G | CA389035988 | MYH7 | c.5284-1G>C (n.5284-1G>C) | |
14 | g.23415271C>T | CA389035986 | MYH7 | c.5284-1G>A (n.5284-1G>A) | |
14 | g.23415272T>A | CA389035991 | MYH7 | c.5284-2A>T (n.5284-2A>T) | |
14 | g.23415272T>C | CA389035992 | MYH7 | c.5284-2A>G (n.5284-2A>G) | dbSNP |
14 | g.23415272T>G | CA389035994 | MYH7 | c.5284-2A>C (n.5284-2A>C) | |
14 | g.23415272T= | CA2123462730 | MYH7 | c.5284-2A= (n.5284-2A=) | |
14 | g.23415273G>A | CA046042 | MYH7 | c.5284-3C>T (n.5284-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23415273G= | CA2123462735 | MYH7 | c.5284-3C= (n.5284-3C=) | |
14 | g.23415274T>C | CA2575486247 | MYH7 | c.5284-4A>G (n.5284-4A>G) | |
14 | g.23415277G>A | CA2624232167 | MYH7 | c.5284-7C>T (n.5284-7C>T) | gnomAD v4 |
14 | g.23415277G>T | CA2739277764 | MYH7 | c.5284-7C>A (n.5284-7C>A) | ClinVar |
14 | g.23415278C>A | CA2123462741 | MYH7 | c.5284-8G>T (n.5284-8G>T) | dbSNP gnomAD v4 |