Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23433556G>A | CA485627108 | MYH7 | c.177C>T (p.Val59=) n.283C>T | ClinVar dbSNP gnomAD v4 COSMIC |
14 | g.23433556G>C | CA485627106 | MYH7 | c.177C>G (p.Val59=) n.283C>G | |
14 | g.23433556G>T | CA485627107 | MYH7 | c.177C>A (p.Val59=) n.283C>A | gnomAD v4 |
14 | g.23433557A>C | CA389053664 | MYH7 | c.176T>G (p.Val59Gly) n.282T>G | |
14 | g.23433557A>G | CA389053665 | MYH7 | c.176T>C (p.Val59Ala) n.282T>C | |
14 | g.23433557A>T | CA389053666 | MYH7 | c.176T>A (p.Val59Asp) n.282T>A | |
14 | g.23433558C>A | CA029331 | MYH7 | c.175G>T (p.Val59Phe) n.281G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23433558C= | CA2123455746 | MYH7 | c.175G= (p.Val59=) n.281G= | |
14 | g.23433558C>G | CA389053669 | MYH7 | c.175G>C (p.Val59Leu) n.281G>C | |
14 | g.23433558C>T | CA029319 | MYH7 | c.175G>A (p.Val59Ile) n.281G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23433558_23433559insCC | CA2624254182 | MYH7 | c.175_176insGG (p.Val59GlyfsTer12) n.281_282insGG | gnomAD v4 |
14 | g.23433558_23433559insCCTC | CA2575487071 | MYH7 | c.175_176insAGGG (p.Val59GlufsTer?) n.281_282insAGGG | |
14 | g.23433559T>A | CA389053670 | MYH7 | c.174A>T (p.Lys58Asn) n.280A>T | |
14 | g.23433559T>C | CA485627109 | MYH7 | c.174A>G (p.Lys58=) n.280A>G | |
14 | g.23433559T>G | CA389053671 | MYH7 | c.174A>C (p.Lys58Asn) n.280A>C | |
14 | g.23433559_23433560insCC | CA2624254187 | MYH7 | c.173_174insGG (p.Val59GlufsTer12) n.279_280insGG | gnomAD v4 |
14 | g.23433560T>A | CA389053672 | MYH7 | c.173A>T (p.Lys58Ile) n.279A>T | |
14 | g.23433560T>C | CA389053673 | MYH7 | c.173A>G (p.Lys58Arg) n.279A>G | |
14 | g.23433560T>G | CA389053674 | MYH7 | c.173A>C (p.Lys58Thr) n.279A>C | |
14 | g.23433561T>A | CA389053678 | MYH7 | c.172A>T (p.Lys58Ter) n.278A>T | |
14 | g.23433561T>C | CA389053677 | MYH7 | c.172A>G (p.Lys58Glu) n.278A>G | |
14 | g.23433561T>G | CA389053675 | MYH7 | c.172A>C (p.Lys58Gln) n.278A>C | |
14 | g.23433562G>A | CA485627110 | MYH7 | c.171C>T (p.Gly57=) n.277C>T | ClinVar dbSNP gnomAD v4 |
14 | g.23433562G>C | CA485627111 | MYH7 | c.171C>G (p.Gly57=) n.277C>G | |
14 | g.23433562G= | CA2123455750 | MYH7 | c.171C= (p.Gly57=) n.277C= | |
14 | g.23433562G>T | CA485627112 | MYH7 | c.171C>A (p.Gly57=) n.277C>A | ClinVar |
14 | g.23433563C>A | CA389053679 | MYH7 | c.170G>T (p.Gly57Val) n.276G>T | |
14 | g.23433563C= | CA2123455752 | MYH7 | c.170G= (p.Gly57=) n.276G= | |
14 | g.23433563C>G | CA389053680 | MYH7 | c.170G>C (p.Gly57Ala) n.276G>C | |
14 | g.23433563C>T | CA257826874 | MYH7 | c.170G>A (p.Gly57Asp) n.276G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23433564C>A | CA389053682 | MYH7 | c.169G>T (p.Gly57Cys) n.275G>T | dbSNP |
14 | g.23433564C>G | CA389053684 | MYH7 | c.169G>C (p.Gly57Arg) n.275G>C | |
14 | g.23433564C>T | CA389053685 | MYH7 | c.169G>A (p.Gly57Ser) n.275G>A | |
14 | g.23433565A>C | CA485627113 | MYH7 | c.168T>G (p.Gly56=) n.274T>G | |
14 | g.23433565A>G | CA485627114 | MYH7 | c.168T>C (p.Gly56=) n.274T>C | ClinVar gnomAD v4 |
14 | g.23433565A>T | CA485627115 | MYH7 | c.168T>A (p.Gly56=) n.274T>A | |
14 | g.23433566C>A | CA389053687 | MYH7 | c.167G>T (p.Gly56Val) n.273G>T | ClinVar dbSNP |
14 | g.23433566C= | CA2123455758 | MYH7 | c.167G= (p.Gly56=) n.273G= | |
14 | g.23433566C>G | CA011120 | MYH7 | c.167G>C (p.Gly56Ala) n.273G>C | ClinVar dbSNP gnomAD v4 |
14 | g.23433566C>T | CA389053688 | MYH7 | c.167G>A (p.Gly56Asp) n.273G>A | gnomAD v4 |
14 | g.23433568del | CA2624254207 | MYH7 | c.167del (p.Gly56ValfsTer14) n.273del | gnomAD v4 |
14 | g.23433567C>A | CA389053689 | MYH7 | c.166G>T (p.Gly56Cys) n.272G>T | ClinVar dbSNP |
14 | g.23433567C= | CA2123455762 | MYH7 | c.166G= (p.Gly56=) n.272G= | |
14 | g.23433567C>G | CA389053690 | MYH7 | c.166G>C (p.Gly56Arg) n.272G>C | |
14 | g.23433567C>T | CA029071 | MYH7 | c.166G>A (p.Gly56Ser) n.272G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23433568C>A | CA389053691 | MYH7 | c.165G>T (p.Glu55Asp) n.271G>T | |
14 | g.23433568C= | CA2123455765 | MYH7 | c.165G= (p.Glu55=) n.271G= | |
14 | g.23433568C>G | CA389053692 | MYH7 | c.165G>C (p.Glu55Asp) n.271G>C | dbSNP gnomAD v4 |
14 | g.23433568C>T | CA485627116 | MYH7 | c.165G>A (p.Glu55=) n.271G>A | |
14 | g.23433569T>A | CA389053695 | MYH7 | c.164A>T (p.Glu55Val) n.270A>T |