Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23413803_23413808del | CA2573053875 | MYH7 | c.5743_5748del (p.Ser1915_Gln1916del) | ClinVar dbSNP |
14 | g.23413804_23413808delinsGGACT | CA2123458186 | MYH7 | c.5741_5745delinsAGTCC (p.Glu1914=) | |
14 | g.23413805G>A | CA389034565 | MYH7 | c.5744C>T (p.Ser1915Phe) | |
14 | g.23413805G>C | CA389034566 | MYH7 | c.5744C>G (p.Ser1915Cys) | |
14 | g.23413805G>T | CA389034567 | MYH7 | c.5744C>A (p.Ser1915Tyr) | |
14 | g.23413805_23413808delinsA | CA351898 | MYH7 | c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal) | ClinVar dbSNP |
14 | g.23413806A>C | CA389034568 | MYH7 | c.5743T>G (p.Ser1915Ala) | |
14 | g.23413806A>G | CA389034569 | MYH7 | c.5743T>C (p.Ser1915Pro) | |
14 | g.23413806A>T | CA389034570 | MYH7 | c.5743T>A (p.Ser1915Thr) | |
14 | g.23413807C>A | CA389034571 | MYH7 | c.5742G>T (p.Glu1914Asp) | ClinVar dbSNP gnomAD v4 |
14 | g.23413807C>G | CA389034572 | MYH7 | c.5742G>C (p.Glu1914Asp) | |
14 | g.23413807C>T | CA485616115 | MYH7 | c.5742G>A (p.Glu1914=) | ClinVar dbSNP gnomAD v4 COSMIC |
14 | g.23413808T>A | CA389034575 | MYH7 | c.5741A>T (p.Glu1914Val) | |
14 | g.23413808T>C | CA389034573 | MYH7 | c.5741A>G (p.Glu1914Gly) | |
14 | g.23413808T>G | CA389034574 | MYH7 | c.5741A>C (p.Glu1914Ala) | gnomAD v4 |
14 | g.23413809C>A | CA389034576 | MYH7 | c.5740G>T (p.Glu1914Ter) | ClinVar dbSNP |
14 | g.23413809C= | CA2123458197 | MYH7 | c.5740G= (p.Glu1914=) | |
14 | g.23413809C>G | CA389034577 | MYH7 | c.5740G>C (p.Glu1914Gln) | |
14 | g.23413809C>T | CA016441 | MYH7 | c.5740G>A (p.Glu1914Lys) | ClinVar dbSNP |
14 | g.23413810G>A | CA016434 | MYH7 | c.5739C>T (p.Ala1913=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23413810G>C | CA048139 | MYH7 | c.5739C>G (p.Ala1913=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23413810G= | CA2123458210 | MYH7 | c.5739C= (p.Ala1913=) | |
14 | g.23413810G>T | CA485616117 | MYH7 | c.5739C>A (p.Ala1913=) | dbSNP |
14 | g.23413811G>A | CA389034578 | MYH7 | c.5738C>T (p.Ala1913Val) | dbSNP gnomAD v2 |
14 | g.23413811G>C | CA389034580 | MYH7 | c.5738C>G (p.Ala1913Gly) | |
14 | g.23413811G= | CA2123458218 | MYH7 | c.5738C= (p.Ala1913=) | |
14 | g.23413811G>T | CA389034579 | MYH7 | c.5738C>A (p.Ala1913Asp) | |
14 | g.23413812C>A | CA389034581 | MYH7 | c.5737G>T (p.Ala1913Ser) | |
14 | g.23413812C= | CA2123458224 | MYH7 | c.5737G= (p.Ala1913=) | |
14 | g.23413812C>G | CA389034582 | MYH7 | c.5737G>C (p.Ala1913Pro) | |
14 | g.23413812C>T | CA048119 | MYH7 | c.5737G>A (p.Ala1913Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23413813G>A | CA016427 | MYH7 | c.5736C>T (p.Ile1912=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23413813G>C | CA389034583 | MYH7 | c.5736C>G (p.Ile1912Met) | |
14 | g.23413813G= | CA2123458229 | MYH7 | c.5736C= (p.Ile1912=) | |
14 | g.23413813G>T | CA485616119 | MYH7 | c.5736C>A (p.Ile1912=) | dbSNP |
14 | g.23413814del | CA2573053876 | MYH7 | c.5735del (p.Ile1912ThrfsTer21) | ClinVar dbSNP |
14 | g.23413814A= | CA2123458232 | MYH7 | c.5735T= (p.Ile1912=) | |
14 | g.23413814A>C | CA389034584 | MYH7 | c.5735T>G (p.Ile1912Ser) | |
14 | g.23413814A>G | CA389034585 | MYH7 | c.5735T>C (p.Ile1912Thr) | |
14 | g.23413814A>T | CA389034586 | MYH7 | c.5735T>A (p.Ile1912Asn) | ClinVar dbSNP |
14 | g.23413815T>A | CA389034587 | MYH7 | c.5734A>T (p.Ile1912Phe) | ClinVar dbSNP gnomAD v4 |
14 | g.23413815T>C | CA389034588 | MYH7 | c.5734A>G (p.Ile1912Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23413815T>G | CA389034589 | MYH7 | c.5734A>C (p.Ile1912Leu) | |
14 | g.23413815T= | CA2123458238 | MYH7 | c.5734A= (p.Ile1912=) | |
14 | g.23413816G>A | CA485616121 | MYH7 | c.5733C>T (p.Asp1911=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23413816G>C | CA389034590 | MYH7 | c.5733C>G (p.Asp1911Glu) | |
14 | g.23413816G= | CA2123458263 | MYH7 | c.5733C= (p.Asp1911=) | |
14 | g.23413816G>T | CA389034591 | MYH7 | c.5733C>A (p.Asp1911Glu) | |
14 | g.23413817T>A | CA389034592 | MYH7 | c.5732A>T (p.Asp1911Val) | |
14 | g.23413817T>C | CA389034594 | MYH7 | c.5732A>G (p.Asp1911Gly) |