Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23431468C>A | CA389052134 | MYH7 | c.746G>T (p.Arg249Leu) n.852G>T | ClinVar dbSNP |
14 | g.23431468C= | CA2123451619 | MYH7 | c.746G= (p.Arg249=) n.852G= | |
14 | g.23431468C>G | CA389052135 | MYH7 | c.746G>C (p.Arg249Pro) n.852G>C | |
14 | g.23431468C>T | CA016781 | MYH7 | c.746G>A (p.Arg249Gln) n.852G>A | ClinVar dbSNP gnomAD v4 COSMIC |
14 | g.23431469G>A | CA16614500 | MYH7 | c.745C>T (p.Arg249Ter) n.851C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.23431469G>C | CA016774 | MYH7 | c.745C>G (p.Arg249Gly) n.851C>G | ClinVar dbSNP |
14 | g.23431469G= | CA2123451633 | MYH7 | c.745C= (p.Arg249=) n.851C= | |
14 | g.23431469G>T | CA485767290 | MYH7 | c.745C>A (p.Arg249=) n.851C>A | ClinVar dbSNP |
14 | g.23431470A>C | CA389052136 | MYH7 | c.744T>G (p.Ile248Met) n.850T>G | ClinVar dbSNP |
14 | g.23431470A>G | CA485767292 | MYH7 | c.744T>C (p.Ile248=) n.850T>C | |
14 | g.23431470A>T | CA485767293 | MYH7 | c.744T>A (p.Ile248=) n.850T>A | |
14 | g.23431471A= | CA2123451645 | MYH7 | c.743T= (p.Ile248=) n.849T= | |
14 | g.23431471A>C | CA389052137 | MYH7 | c.743T>G (p.Ile248Ser) n.849T>G | |
14 | g.23431471A>G | CA016766 | MYH7 | c.743T>C (p.Ile248Thr) n.849T>C | ClinVar dbSNP |
14 | g.23431471A>T | CA389052138 | MYH7 | c.743T>A (p.Ile248Asn) n.849T>A | |
14 | g.23431472T>A | CA016758 | MYH7 | c.742A>T (p.Ile248Phe) n.848A>T | ClinVar dbSNP |
14 | g.23431472T>C | CA389052140 | MYH7 | c.742A>G (p.Ile248Val) n.848A>G | |
14 | g.23431472T>G | CA389052139 | MYH7 | c.742A>C (p.Ile248Leu) n.848A>C | |
14 | g.23431472T= | CA2123451653 | MYH7 | c.742A= (p.Ile248=) n.848A= | |
14 | g.23431473G>A | CA485767297 | MYH7 | c.741C>T (p.Phe247=) n.847C>T | |
14 | g.23431473G>C | CA389052141 | MYH7 | c.741C>G (p.Phe247Leu) n.847C>G | |
14 | g.23431473G= | CA2123451668 | MYH7 | c.741C= (p.Phe247=) n.847C= | |
14 | g.23431473G>T | CA389052142 | MYH7 | c.741C>A (p.Phe247Leu) n.847C>A | ClinVar dbSNP COSMIC |
14 | g.23431474A= | CA2123451680 | MYH7 | c.740T= (p.Phe247=) n.846T= | |
14 | g.23431474A>C | CA016752 | MYH7 | c.740T>G (p.Phe247Cys) n.846T>G | ClinVar dbSNP |
14 | g.23431474A>G | CA389052143 | MYH7 | c.740T>C (p.Phe247Ser) n.846T>C | ClinVar |
14 | g.23431474A>T | CA389052144 | MYH7 | c.740T>A (p.Phe247Tyr) n.846T>A | |
14 | g.23431475A= | CA2123451692 | MYH7 | c.739T= (p.Phe247=) n.845T= | |
14 | g.23431475A>C | CA389052145 | MYH7 | c.739T>G (p.Phe247Val) n.845T>G | |
14 | g.23431475A>G | CA016744 | MYH7 | c.739T>C (p.Phe247Leu) n.845T>C | ClinVar dbSNP |
14 | g.23431475A>T | CA389052146 | MYH7 | c.739T>A (p.Phe247Ile) n.845T>A | |
14 | g.23431476T>A | CA389052147 | MYH7 | c.738A>T (p.Lys246Asn) n.844A>T | |
14 | g.23431476T>C | CA485767298 | MYH7 | c.738A>G (p.Lys246=) n.844A>G | |
14 | g.23431476T>G | CA389052148 | MYH7 | c.738A>C (p.Lys246Asn) n.844A>C | |
14 | g.23431477T>A | CA389052149 | MYH7 | c.737A>T (p.Lys246Ile) n.843A>T | dbSNP |
14 | g.23431477T>C | CA016736 | MYH7 | c.737A>G (p.Lys246Arg) n.843A>G | ClinVar dbSNP gnomAD v2 |
14 | g.23431477T>G | CA389052150 | MYH7 | c.737A>C (p.Lys246Thr) n.843A>C | |
14 | g.23431477T= | CA2123451700 | MYH7 | c.737A= (p.Lys246=) n.843A= | |
14 | g.23431478T>A | CA389052153 | MYH7 | c.736A>T (p.Lys246Ter) n.842A>T | |
14 | g.23431478T>C | CA389052151 | MYH7 | c.736A>G (p.Lys246Glu) n.842A>G | |
14 | g.23431478T>G | CA389052152 | MYH7 | c.736A>C (p.Lys246Gln) n.842A>C | dbSNP |
14 | g.23431478T= | CA2123451704 | MYH7 | c.736A= (p.Lys246=) n.842A= | |
14 | g.23431479C>A | CA485767300 | MYH7 | c.735G>T (p.Gly245=) n.841G>T | |
14 | g.23431479C= | CA2123451706 | MYH7 | c.735G= (p.Gly245=) n.841G= | |
14 | g.23431479C>G | CA485767302 | MYH7 | c.735G>C (p.Gly245=) n.841G>C | |
14 | g.23431479C>T | CA485767304 | MYH7 | c.735G>A (p.Gly245=) n.841G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23431480C>A | CA389052154 | MYH7 | c.734G>T (p.Gly245Val) n.840G>T | COSMIC |
14 | g.23431480C= | CA2123451715 | MYH7 | c.734G= (p.Gly245=) n.840G= | |
14 | g.23431480C>G | CA389052155 | MYH7 | c.734G>C (p.Gly245Ala) n.840G>C | |
14 | g.23431480C>T | CA016731 | MYH7 | c.734G>A (p.Gly245Glu) n.840G>A | ClinVar dbSNP COSMIC |