Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23415136del | CA2580087924 | MYH7 | c.5420del (p.Gly1807AlafsTer?) | ClinVar |
14 | g.23415136C>A | CA389035493 | MYH7 | c.5418G>T (p.Lys1806Asn) | |
14 | g.23415136C>G | CA389035495 | MYH7 | c.5418G>C (p.Lys1806Asn) | |
14 | g.23415136C>T | CA485766159 | MYH7 | c.5418G>A (p.Lys1806=) | |
14 | g.23415137T>A | CA389035498 | MYH7 | c.5417A>T (p.Lys1806Met) | |
14 | g.23415137T>C | CA389035499 | MYH7 | c.5417A>G (p.Lys1806Arg) | |
14 | g.23415137T>G | CA389035501 | MYH7 | c.5417A>C (p.Lys1806Thr) | |
14 | g.23415138T>A | CA389035505 | MYH7 | c.5416A>T (p.Lys1806Ter) | |
14 | g.23415138T>C | CA389035507 | MYH7 | c.5416A>G (p.Lys1806Glu) | ClinVar dbSNP |
14 | g.23415138T>G | CA389035508 | MYH7 | c.5416A>C (p.Lys1806Gln) | ClinVar dbSNP |
14 | g.23415138T= | CA2123462115 | MYH7 | c.5416A= (p.Lys1806=) | |
14 | g.23415139G>A | CA485766165 | MYH7 | c.5415C>T (p.Leu1805=) | |
14 | g.23415139G>C | CA485766163 | MYH7 | c.5415C>G (p.Leu1805=) | dbSNP |
14 | g.23415139G= | CA2123462123 | MYH7 | c.5415C= (p.Leu1805=) | |
14 | g.23415139G>T | CA485766161 | MYH7 | c.5415C>A (p.Leu1805=) | |
14 | g.23415140A>C | CA389035511 | MYH7 | c.5414T>G (p.Leu1805Arg) | ClinVar |
14 | g.23415140A>G | CA389035513 | MYH7 | c.5414T>C (p.Leu1805Pro) | ClinVar dbSNP |
14 | g.23415140A>T | CA389035514 | MYH7 | c.5414T>A (p.Leu1805His) | |
14 | g.23415141G>A | CA389035516 | MYH7 | c.5413C>T (p.Leu1805Phe) | |
14 | g.23415141G>C | CA389035518 | MYH7 | c.5413C>G (p.Leu1805Val) | |
14 | g.23415141G= | CA2123462124 | MYH7 | c.5413C= (p.Leu1805=) | |
14 | g.23415141G>T | CA389035519 | MYH7 | c.5413C>A (p.Leu1805Ile) | ClinVar dbSNP |
14 | g.23415142G>A | CA485766169 | MYH7 | c.5412C>T (p.Ala1804=) | |
14 | g.23415142G>C | CA046706 | MYH7 | c.5412C>G (p.Ala1804=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415142G= | CA2123462127 | MYH7 | c.5412C= (p.Ala1804=) | |
14 | g.23415142G>T | CA485766170 | MYH7 | c.5412C>A (p.Ala1804=) | |
14 | g.23415143G>A | CA389035527 | MYH7 | c.5411C>T (p.Ala1804Val) | |
14 | g.23415143G>C | CA257809024 | MYH7 | c.5411C>G (p.Ala1804Gly) | ClinVar dbSNP |
14 | g.23415143G= | CA2123462134 | MYH7 | c.5411C= (p.Ala1804=) | |
14 | g.23415143G>T | CA389035524 | MYH7 | c.5411C>A (p.Ala1804Asp) | |
14 | g.23415144C>A | CA389035530 | MYH7 | c.5410G>T (p.Ala1804Ser) | ClinVar |
14 | g.23415144C= | CA2123462143 | MYH7 | c.5410G= (p.Ala1804=) | |
14 | g.23415144C>G | CA389035532 | MYH7 | c.5410G>C (p.Ala1804Pro) | |
14 | g.23415144C>T | CA016102 | MYH7 | c.5410G>A (p.Ala1804Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.23415145G>A | CA046668 | MYH7 | c.5409C>T (p.Ile1803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415145G>C | CA389035536 | MYH7 | c.5409C>G (p.Ile1803Met) | |
14 | g.23415145G= | CA2123462159 | MYH7 | c.5409C= (p.Ile1803=) | |
14 | g.23415145G>T | CA485766177 | MYH7 | c.5409C>A (p.Ile1803=) | |
14 | g.23415146A>C | CA389035540 | MYH7 | c.5408T>G (p.Ile1803Ser) | |
14 | g.23415146A>G | CA389035541 | MYH7 | c.5408T>C (p.Ile1803Thr) | |
14 | g.23415146A>T | CA389035543 | MYH7 | c.5408T>A (p.Ile1803Asn) | |
14 | g.23415147T>A | CA389035546 | MYH7 | c.5407A>T (p.Ile1803Phe) | |
14 | g.23415147T>C | CA389035548 | MYH7 | c.5407A>G (p.Ile1803Val) | ClinVar dbSNP |
14 | g.23415147T>G | CA389035551 | MYH7 | c.5407A>C (p.Ile1803Leu) | |
14 | g.23415147T= | CA2123462168 | MYH7 | c.5407A= (p.Ile1803=) | |
14 | g.23415148C>A | CA389035555 | MYH7 | c.5406G>T (p.Gln1802His) | gnomAD v4 |
14 | g.23415148C>G | CA389035557 | MYH7 | c.5406G>C (p.Gln1802His) | |
14 | g.23415148C>T | CA485766185 | MYH7 | c.5406G>A (p.Gln1802=) | |
14 | g.23415149T>A | CA389035562 | MYH7 | c.5405A>T (p.Gln1802Leu) | |
14 | g.23415149T>C | CA389035565 | MYH7 | c.5405A>G (p.Gln1802Arg) |