Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23425970C>A | CA389049014 | MYH7 | c.2156G>T (p.Arg719Leu) n.2262G>T | |
14 | g.23425970C= | CA2123459095 | MYH7 | c.2156G= (p.Arg719=) n.2262G= | |
14 | g.23425970C>G | CA277665 | MYH7 | c.2156G>C (p.Arg719Pro) n.2262G>C | ClinVar dbSNP |
14 | g.23425970C>T | CA011785 | MYH7 | c.2156G>A (p.Arg719Gln) n.2262G>A | ClinVar dbSNP |
14 | g.23425971G>A | CA011779 | MYH7 | c.2155C>T (p.Arg719Trp) n.2261C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23425971G>C | CA389049015 | MYH7 | c.2155C>G (p.Arg719Gly) n.2261C>G | |
14 | g.23425971G= | CA2123459103 | MYH7 | c.2155C= (p.Arg719=) n.2261C= | |
14 | g.23425971G>T | CA485766806 | MYH7 | c.2155C>A (p.Arg719=) n.2261C>A | |
14 | g.23425972del | CA2695219139 | MYH7 | c.2155del (p.Arg719GlyfsTer7) n.2261del | |
14 | g.23425972G>A | CA485766808 | MYH7 | c.2154C>T (p.Phe718=) n.2260C>T | |
14 | g.23425972G>C | CA389049016 | MYH7 | c.2154C>G (p.Phe718Leu) n.2260C>G | |
14 | g.23425972G>T | CA389049017 | MYH7 | c.2154C>A (p.Phe718Leu) n.2260C>A | |
14 | g.23425973A= | CA2123459109 | MYH7 | c.2153T= (p.Phe718=) n.2259T= | |
14 | g.23425973A>C | CA16614412 | MYH7 | c.2153T>G (p.Phe718Cys) n.2259T>G | ClinVar dbSNP |
14 | g.23425973A>G | CA389049018 | MYH7 | c.2153T>C (p.Phe718Ser) n.2259T>C | |
14 | g.23425973A>T | CA389049019 | MYH7 | c.2153T>A (p.Phe718Tyr) n.2259T>A | gnomAD v4 |
14 | g.23425974A>C | CA389049020 | MYH7 | c.2152T>G (p.Phe718Val) n.2258T>G | |
14 | g.23425974A>G | CA389049021 | MYH7 | c.2152T>C (p.Phe718Leu) n.2258T>C | |
14 | g.23425974A>T | CA389049022 | MYH7 | c.2152T>A (p.Phe718Ile) n.2258T>A | |
14 | g.23425975G>A | CA485766814 | MYH7 | c.2151C>T (p.Asp717=) n.2257C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23425975G>C | CA389049023 | MYH7 | c.2151C>G (p.Asp717Glu) n.2257C>G | ClinVar dbSNP |
14 | g.23425975G= | CA2123459114 | MYH7 | c.2151C= (p.Asp717=) n.2257C= | |
14 | g.23425975G>T | CA389049024 | MYH7 | c.2151C>A (p.Asp717Glu) n.2257C>A | |
14 | g.23425976T>A | CA389049025 | MYH7 | c.2150A>T (p.Asp717Val) n.2256A>T | ClinVar |
14 | g.23425976T>C | CA389049026 | MYH7 | c.2150A>G (p.Asp717Gly) n.2256A>G | ClinVar |
14 | g.23425976T>G | CA389049027 | MYH7 | c.2150A>C (p.Asp717Ala) n.2256A>C | ClinVar |
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 |