Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | ClinVar 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 |
14 | g.23431480_23431481delinsCC | CA2123451722 | MYH7 | c.733_734delinsGG (p.Gly245=) n.839_840delinsGG | |
14 | g.23431480_23431481delinsTT | CA257825860 | MYH7 | c.733_734delinsAA (p.Gly245Lys) n.839_840delinsAA | dbSNP |
14 | g.23431480_23431583delinsCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCA | CA2123451726 | MYH7 | c.732+2_734delinsTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGGG n.838+2_840delinsTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGGG | |
14 | g.23431481C>A | CA389052156 | MYH7 | c.733G>T (p.Gly245Trp) n.839G>T | |
14 | g.23431481C>G | CA389052157 | MYH7 | c.733G>C (p.Gly245Arg) n.839G>C | |
14 | g.23431481C>T | CA389052158 | MYH7 | c.733G>A (p.Gly245Arg) n.839G>A | |
14 | g.23431482_23431584del | CA257825863 | MYH7 | c.732+2_733del n.838+2_839del | dbSNP |
14 | g.23431481_23431585delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG | CA2123451743 | MYH7 | c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG n.838_839delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG | |
14 | g.23431482C>A | CA389052159 | MYH7 | c.733-1G>T (n.733-1G>T) n.839-1G>T | |
14 | g.23431482C= | CA2123451746 | MYH7 | c.733-1G= (n.733-1G=) n.839-1G= | |
14 | g.23431482C>G | CA389052160 | MYH7 | c.733-1G>C (n.733-1G>C) n.839-1G>C | |
14 | g.23431482C>T | CA048946 | MYH7 | c.733-1G>A (n.733-1G>A) n.839-1G>A | dbSNP ExAC gnomAD v2 |
14 | g.23431482_23431585delinsA | CA257825866 | MYH7 | c.732_733-1delinsT n.838_839-1delinsT | dbSNP |
14 | g.23431483del | CA2580087892 | MYH7 | c.733-2del (n.733-2del) n.839-2del | ClinVar |
14 | g.23431483T>A | CA389052161 | MYH7 | c.733-2A>T (n.733-2A>T) n.839-2A>T | |
14 | g.23431483T>C | CA389052162 | MYH7 | c.733-2A>G (n.733-2A>G) n.839-2A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23431483T>G | CA389052163 | MYH7 | c.733-2A>C (n.733-2A>C) n.839-2A>C | |
14 | g.23431483T= | CA2123451754 | MYH7 | c.733-2A= (n.733-2A=) n.839-2A= | |
14 | g.23431484G>A | CA048995 | MYH7 | c.733-3C>T (n.733-3C>T) n.839-3C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23431484G= | CA2123451761 | MYH7 | c.733-3C= (n.733-3C=) n.839-3C= | |
14 | g.23431487G>A | CA049013 | MYH7 | c.733-6C>T (n.733-6C>T) n.839-6C>T | dbSNP ExAC |
14 | g.23431487G= | CA2123451764 | MYH7 | c.733-6C= (n.733-6C=) n.839-6C= | |
14 | g.23431489G>A | CA049020 | MYH7 | c.733-8C>T (n.733-8C>T) n.839-8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23431489G= | CA2123451770 | MYH7 | c.733-8C= (n.733-8C=) n.839-8C= | |
14 | g.23431490A= | CA2123451776 | MYH7 | c.733-9T= (n.733-9T=) n.839-9T= | |
14 | g.23431490A>G | CA257825883 | MYH7 | c.733-9T>C (n.733-9T>C) n.839-9T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23431491T>C | CA1139663380 | MYH7 | c.733-10A>G (n.733-10A>G) n.839-10A>G | ClinVar dbSNP gnomAD v4 |