Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23432678_23432719del | CA2624252269 | MYH7 | c.422_463del (p.Ala141_Phe155delinsVal) n.528_569del | gnomAD v4 |
14 | g.23432696C>A | CA389052807 | MYH7 | c.445G>T (p.Glu149Ter) n.551G>T | |
14 | g.23432696C= | CA2123454139 | MYH7 | c.445G= (p.Glu149=) n.551G= | |
14 | g.23432696C>G | CA389052808 | MYH7 | c.445G>C (p.Glu149Gln) n.551G>C | |
14 | g.23432696C>T | CA042340 | MYH7 | c.445G>A (p.Glu149Lys) n.551G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23432697G>A | CA042293 | MYH7 | c.444C>T (p.Ser148=) n.550C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23432697G>C | CA16606540 | MYH7 | c.444C>G (p.Ser148Arg) n.550C>G | ClinVar dbSNP |
14 | g.23432697G= | CA2123454144 | MYH7 | c.444C= (p.Ser148=) n.550C= | |
14 | g.23432697G>T | CA389052809 | MYH7 | c.444C>A (p.Ser148Arg) n.550C>A | ClinVar dbSNP |
14 | g.23432698C>A | CA042268 | MYH7 | c.443G>T (p.Ser148Ile) n.549G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23432698C= | CA2123454152 | MYH7 | c.443G= (p.Ser148=) n.549G= | |
14 | g.23432698C>G | CA389052811 | MYH7 | c.443G>C (p.Ser148Thr) n.549G>C | |
14 | g.23432698C>T | CA389052810 | MYH7 | c.443G>A (p.Ser148Asn) n.549G>A | COSMIC |
14 | g.23432699T>A | CA389052812 | MYH7 | c.442A>T (p.Ser148Cys) n.548A>T | |
14 | g.23432699T>C | CA042238 | MYH7 | c.442A>G (p.Ser148Gly) n.548A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23432699T>G | CA014971 | MYH7 | c.442A>C (p.Ser148Arg) n.548A>C | ClinVar dbSNP |
14 | g.23432699T= | CA2123454158 | MYH7 | c.442A= (p.Ser148=) n.548A= | |
14 | g.23432700C>A | CA389052813 | MYH7 | c.441G>T (p.Arg147Ser) n.547G>T | |
14 | g.23432700C= | CA2123454167 | MYH7 | c.441G= (p.Arg147=) n.547G= | |
14 | g.23432700C>G | CA389052814 | MYH7 | c.441G>C (p.Arg147Ser) n.547G>C | ClinVar dbSNP |
14 | g.23432700C>T | CA485626457 | MYH7 | c.441G>A (p.Arg147=) n.547G>A | |
14 | g.23432701C>A | CA389052815 | MYH7 | c.440G>T (p.Arg147Met) n.546G>T | |
14 | g.23432701C= | CA2123454170 | MYH7 | c.440G= (p.Arg147=) n.546G= | |
14 | g.23432701C>G | CA389052816 | MYH7 | c.440G>C (p.Arg147Thr) n.546G>C | |
14 | g.23432701C>T | CA389052817 | MYH7 | c.440G>A (p.Arg147Lys) n.546G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23432702T>A | CA389052818 | MYH7 | c.439A>T (p.Arg147Trp) n.545A>T | |
14 | g.23432702T>C | CA389052819 | MYH7 | c.439A>G (p.Arg147Gly) n.545A>G | ClinVar |
14 | g.23432702T>G | CA485626461 | MYH7 | c.439A>C (p.Arg147=) n.545A>C | |
14 | g.23432703C>A | CA014924 | MYH7 | c.438G>T (p.Lys146Asn) n.544G>T | ClinVar dbSNP |
14 | g.23432703C= | CA2123454176 | MYH7 | c.438G= (p.Lys146=) n.544G= | |
14 | g.23432703C>G | CA389052820 | MYH7 | c.438G>C (p.Lys146Asn) n.544G>C | gnomAD v4 |
14 | g.23432703C>T | CA16606543 | MYH7 | c.438G>A (p.Lys146=) n.544G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23432704T>A | CA014914 | MYH7 | c.437A>T (p.Lys146Met) n.543A>T | dbSNP |
14 | g.23432704T>C | CA389052821 | MYH7 | c.437A>G (p.Lys146Arg) n.543A>G | |
14 | g.23432704T>G | CA014910 | MYH7 | c.437A>C (p.Lys146Thr) n.543A>C | dbSNP |
14 | g.23432704T= | CA2123454188 | MYH7 | c.437A= (p.Lys146=) n.543A= | |
14 | g.23432705T>A | CA389052822 | MYH7 | c.436A>T (p.Lys146Ter) n.542A>T | |
14 | g.23432705T>C | CA389052823 | MYH7 | c.436A>G (p.Lys146Glu) n.542A>G | |
14 | g.23432705T>G | CA389052824 | MYH7 | c.436A>C (p.Lys146Gln) n.542A>C | |
14 | g.23432706C>A | CA389052825 | MYH7 | c.435G>T (p.Lys145Asn) n.541G>T | |
14 | g.23432706C>G | CA389052826 | MYH7 | c.435G>C (p.Lys145Asn) n.541G>C | |
14 | g.23432706C>T | CA485626465 | MYH7 | c.435G>A (p.Lys145=) n.541G>A | |
14 | g.23432707T>A | CA389052827 | MYH7 | c.434A>T (p.Lys145Met) n.540A>T | |
14 | g.23432707T>C | CA389052828 | MYH7 | c.434A>G (p.Lys145Arg) n.540A>G | |
14 | g.23432707T>G | CA389052829 | MYH7 | c.434A>C (p.Lys145Thr) n.540A>C | |
14 | g.23432708T>A | CA389052830 | MYH7 | c.433A>T (p.Lys145Ter) n.539A>T | |
14 | g.23432708T>C | CA389052831 | MYH7 | c.433A>G (p.Lys145Glu) n.539A>G | ClinVar |
14 | g.23432708T>G | CA389052832 | MYH7 | c.433A>C (p.Lys145Gln) n.539A>C | |
14 | g.23432709G>A | CA485626466 | MYH7 | c.432C>T (p.Gly144=) n.538C>T | |
14 | g.23432709G>C | CA485626467 | MYH7 | c.432C>G (p.Gly144=) n.538C>G |