Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23431480_23431583delinsCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCA | CA2123451726 | MYH7 | c.732+2_734delinsTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGGG n.838+2_840delinsTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGGG | |
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.23431482_23431585delinsA | CA257825866 | MYH7 | c.732_733-1delinsT n.838_839-1delinsT | dbSNP |
14 | g.23431578C>T | CA2695219144 | MYH7 | c.732+7G>A (n.732+7G>A) n.838+7G>A | |
14 | g.23431580C= | CA2123451945 | MYH7 | c.732+5G= (n.732+5G=) n.838+5G= | |
14 | g.23431580C>G | CA916081718 | MYH7 | c.732+5G>C (n.732+5G>C) n.838+5G>C | ClinVar dbSNP |
14 | g.23431582C>A | CA2695219146 | MYH7 | c.732+3G>T (n.732+3G>T) n.838+3G>T | |
14 | g.23431582C>G | CA2695219145 | MYH7 | c.732+3G>C (n.732+3G>C) n.838+3G>C | |
14 | g.23431583A= | CA2123451958 | MYH7 | c.732+2T= (n.732+2T=) n.838+2T= | |
14 | g.23431583A>C | CA389052164 | MYH7 | c.732+2T>G (n.732+2T>G) n.838+2T>G | ClinVar dbSNP |
14 | g.23431583A>G | CA389052165 | MYH7 | c.732+2T>C (n.732+2T>C) n.838+2T>C | |
14 | g.23431583A>T | CA389052166 | MYH7 | c.732+2T>A (n.732+2T>A) n.838+2T>A | |
14 | g.23431583_23431584delinsAC | CA2123451952 | MYH7 | c.732+1_732+2delinsGT (n.732+1_732+2delinsGT) n.838+1_838+2delinsGT | |
14 | g.23431584del | CA132134 | MYH7 | c.732+1del (n.732+1del) n.838+1del | ClinVar dbSNP |
14 | g.23431584C>A | CA389052167 | MYH7 | c.732+1G>T (n.732+1G>T) n.838+1G>T | ClinVar dbSNP |
14 | g.23431584C= | CA2123451970 | MYH7 | c.732+1G= (n.732+1G=) n.838+1G= | |
14 | g.23431584C>G | CA389052168 | MYH7 | c.732+1G>C (n.732+1G>C) n.838+1G>C | ClinVar dbSNP |
14 | g.23431584C>T | CA016715 | MYH7 | c.732+1G>A (n.732+1G>A) n.838+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.23431585G>A | CA016723 | MYH7 | c.732C>T (p.Phe244=) n.838C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23431585G>C | CA389052169 | MYH7 | c.732C>G (p.Phe244Leu) n.838C>G | dbSNP |
14 | g.23431585G= | CA2123451985 | MYH7 | c.732C= (p.Phe244=) n.838C= | |
14 | g.23431585G>T | CA389052170 | MYH7 | c.732C>A (p.Phe244Leu) n.838C>A | gnomAD v4 |
14 | g.23431585_23431587delinsAAG | CA2695219147 | MYH7 | c.730_732delinsCTT (p.Phe244Leu) n.836_838delinsCTT | |
14 | g.23431586A>C | CA389052171 | MYH7 | c.731T>G (p.Phe244Cys) n.837T>G | |
14 | g.23431586A>G | CA389052173 | MYH7 | c.731T>C (p.Phe244Ser) n.837T>C | |
14 | g.23431586A>T | CA389052172 | MYH7 | c.731T>A (p.Phe244Tyr) n.837T>A | |
14 | g.23431587A= | CA2123451993 | MYH7 | c.730T= (p.Phe244=) n.836T= | |
14 | g.23431587A>C | CA389052174 | MYH7 | c.730T>G (p.Phe244Val) n.836T>G | |
14 | g.23431587A>G | CA016711 | MYH7 | c.730T>C (p.Phe244Leu) n.836T>C | ClinVar dbSNP |
14 | g.23431587A>T | CA389052175 | MYH7 | c.730T>A (p.Phe244Ile) n.836T>A | |
14 | g.23431588G>A | CA485767314 | MYH7 | c.729C>T (p.Arg243=) n.835C>T | |
14 | g.23431588G>C | CA485767315 | MYH7 | c.729C>G (p.Arg243=) n.835C>G | |
14 | g.23431588G>T | CA485767316 | MYH7 | c.729C>A (p.Arg243=) n.835C>A | |
14 | g.23431589C>A | CA389052176 | MYH7 | c.728G>T (p.Arg243Leu) n.834G>T | ClinVar dbSNP |
14 | g.23431589C= | CA2123452001 | MYH7 | c.728G= (p.Arg243=) n.834G= | |
14 | g.23431589C>G | CA389052177 | MYH7 | c.728G>C (p.Arg243Pro) n.834G>C | |
14 | g.23431589C>T | CA016701 | MYH7 | c.728G>A (p.Arg243His) n.834G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.23431590G>A | CA016694 | MYH7 | c.727C>T (p.Arg243Cys) n.833C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23431590G>C | CA389052178 | MYH7 | c.727C>G (p.Arg243Gly) n.833C>G | |
14 | g.23431590G= | CA2123452020 | MYH7 | c.727C= (p.Arg243=) n.833C= | |
14 | g.23431590G>T | CA389052179 | MYH7 | c.727C>A (p.Arg243Ser) n.833C>A | |
14 | g.23431591G>A | CA485767317 | MYH7 | c.726C>T (p.Ser242=) n.832C>T | dbSNP |
14 | g.23431591G>C | CA485767318 | MYH7 | c.726C>G (p.Ser242=) n.832C>G | |
14 | g.23431591G= | CA2123452025 | MYH7 | c.726C= (p.Ser242=) n.832C= | |
14 | g.23431591G>T | CA485767319 | MYH7 | c.726C>A (p.Ser242=) n.832C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23431592G>A | CA389052180 | MYH7 | c.725C>T (p.Ser242Phe) n.831C>T | |
14 | g.23431592G>C | CA016686 | MYH7 | c.725C>G (p.Ser242Cys) n.831C>G | ClinVar dbSNP |
14 | g.23431592G= | CA2123452033 | MYH7 | c.725C= (p.Ser242=) n.831C= | |
14 | g.23431592G>T | CA389052181 | MYH7 | c.725C>A (p.Ser242Tyr) n.831C>A |