Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23425977C>A | CA389049028 | MYH7 | c.2149G>T (p.Asp717Tyr) n.2255G>T | |
14 | g.23425977C= | CA2123459116 | MYH7 | c.2149G= (p.Asp717=) n.2255G= | |
14 | g.23425977C>G | CA389049029 | MYH7 | c.2149G>C (p.Asp717His) n.2255G>C | |
14 | g.23425977C>T | CA16606822 | MYH7 | c.2149G>A (p.Asp717Asn) n.2255G>A | ClinVar dbSNP |
14 | g.23425978C>A | CA485766819 | MYH7 | c.2148G>T (p.Gly716=) n.2254G>T | |
14 | g.23425978C= | CA2123459120 | MYH7 | c.2148G= (p.Gly716=) n.2254G= | |
14 | g.23425978C>G | CA031292 | MYH7 | c.2148G>C (p.Gly716=) n.2254G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23425978C>T | CA485766824 | MYH7 | c.2148G>A (p.Gly716=) n.2254G>A | ClinVar COSMIC |
14 | g.23425979C>A | CA389049030 | MYH7 | c.2147G>T (p.Gly716Val) n.2253G>T | |
14 | g.23425979C= | CA2123459130 | MYH7 | c.2147G= (p.Gly716=) n.2253G= | |
14 | g.23425979C>G | CA389049031 | MYH7 | c.2147G>C (p.Gly716Ala) n.2253G>C | |
14 | g.23425979C>T | CA389049032 | MYH7 | c.2147G>A (p.Gly716Glu) n.2253G>A | ClinVar dbSNP COSMIC |
14 | g.23425980C>A | CA389049034 | MYH7 | c.2146G>T (p.Gly716Trp) n.2252G>T | ClinVar dbSNP |
14 | g.23425980C= | CA2123459145 | MYH7 | c.2146G= (p.Gly716=) n.2252G= | |
14 | g.23425980C>G | CA389049033 | MYH7 | c.2146G>C (p.Gly716Arg) n.2252G>C | ClinVar dbSNP |
14 | g.23425980C>T | CA011770 | MYH7 | c.2146G>A (p.Gly716Arg) n.2252G>A | ClinVar dbSNP |
14 | g.23425981G>A | CA031285 | MYH7 | c.2145C>T (p.Tyr715=) n.2251C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23425981G>C | CA389049035 | MYH7 | c.2145C>G (p.Tyr715Ter) n.2251C>G | |
14 | g.23425981G= | CA2123459161 | MYH7 | c.2145C= (p.Tyr715=) n.2251C= | |
14 | g.23425981G>T | CA389049036 | MYH7 | c.2145C>A (p.Tyr715Ter) n.2251C>A | ClinVar dbSNP |
14 | g.23425982T>A | CA389049037 | MYH7 | c.2144A>T (p.Tyr715Phe) n.2250A>T | |
14 | g.23425982T>C | CA389049038 | MYH7 | c.2144A>G (p.Tyr715Cys) n.2250A>G | ClinVar dbSNP |
14 | g.23425982T>G | CA389049039 | MYH7 | c.2144A>C (p.Tyr715Ser) n.2250A>C | |
14 | g.23425983A>C | CA389049040 | MYH7 | c.2143T>G (p.Tyr715Asp) n.2249T>G | |
14 | g.23425983A>G | CA389049042 | MYH7 | c.2143T>C (p.Tyr715His) n.2249T>C | |
14 | g.23425983A>T | CA389049041 | MYH7 | c.2143T>A (p.Tyr715Asn) n.2249T>A | |
14 | g.23425984G>A | CA485766833 | MYH7 | c.2142C>T (p.Leu714=) n.2248C>T | |
14 | g.23425984G>C | CA485766834 | MYH7 | c.2142C>G (p.Leu714=) n.2248C>G | |
14 | g.23425984G>T | CA485766835 | MYH7 | c.2142C>A (p.Leu714=) n.2248C>A | |
14 | g.23425985A>C | CA389049043 | MYH7 | c.2141T>G (p.Leu714Arg) n.2247T>G | |
14 | g.23425985A>G | CA389049045 | MYH7 | c.2141T>C (p.Leu714Pro) n.2247T>C | ClinVar dbSNP |
14 | g.23425985A>T | CA389049044 | MYH7 | c.2141T>A (p.Leu714His) n.2247T>A | |
14 | g.23425986G>A | CA389049046 | MYH7 | c.2140C>T (p.Leu714Phe) n.2246C>T | ClinVar COSMIC |
14 | g.23425986G>C | CA389049048 | MYH7 | c.2140C>G (p.Leu714Val) n.2246C>G | |
14 | g.23425986G= | CA2123459182 | MYH7 | c.2140C= (p.Leu714=) n.2246C= | |
14 | g.23425986G>T | CA389049047 | MYH7 | c.2140C>A (p.Leu714Ile) n.2246C>A | ClinVar dbSNP gnomAD v4 COSMIC |
14 | g.23425987G>A | CA485766839 | MYH7 | c.2139C>T (p.Ile713=) n.2245C>T | dbSNP gnomAD v4 |
14 | g.23425987G>C | CA389049049 | MYH7 | c.2139C>G (p.Ile713Met) n.2245C>G | ClinVar |
14 | g.23425987G= | CA2123459188 | MYH7 | c.2139C= (p.Ile713=) n.2245C= | |
14 | g.23425987G>T | CA485766840 | MYH7 | c.2139C>A (p.Ile713=) n.2245C>A | |
14 | g.23425987_23425988delinsGA | CA2123459186 | MYH7 | c.2138_2139delinsTC (p.Ile713=) n.2244_2245delinsTC | |
14 | g.23425987_23425988delinsTC | CA011765 | MYH7 | c.2138_2139delinsGA (p.Ile713Arg) n.2244_2245delinsGA | ClinVar dbSNP |
14 | g.23425988A>C | CA389049050 | MYH7 | c.2138T>G (p.Ile713Ser) n.2244T>G | |
14 | g.23425988A>G | CA389049051 | MYH7 | c.2138T>C (p.Ile713Thr) n.2244T>C | |
14 | g.23425988A>T | CA389049052 | MYH7 | c.2138T>A (p.Ile713Asn) n.2244T>A | |
14 | g.23425989T>A | CA389049053 | MYH7 | c.2137A>T (p.Ile713Phe) n.2243A>T | |
14 | g.23425989T>C | CA389049054 | MYH7 | c.2137A>G (p.Ile713Val) n.2243A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23425989T>G | CA389049055 | MYH7 | c.2137A>C (p.Ile713Leu) n.2243A>C | |
14 | g.23425989T= | CA2123459196 | MYH7 | c.2137A= (p.Ile713=) n.2243A= | |
14 | g.23425990G>A | CA485766845 | MYH7 | c.2136C>T (p.Arg712=) n.2242C>T | ClinVar |