| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 14 | g.23431491T>G | CA257825894 | MYH7 | c.733-10A>C (n.733-10A>C) n.839-10A>C | dbSNP |
| 14 | g.23431491T= | CA2123451782 | MYH7 | c.733-10A= (n.733-10A=) n.839-10A= | |
| 14 | g.23431492G>A | CA613317771 | MYH7 | c.733-11C>T (n.733-11C>T) n.839-11C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431492G= | CA2123451789 | MYH7 | c.733-11C= (n.733-11C=) n.839-11C= | |
| 14 | g.23431494A>T | CA2624251164 | MYH7 | c.733-13T>A (n.733-13T>A) n.839-13T>A | gnomAD v4 |
| 14 | g.23431495A>G | CA2624251166 | MYH7 | c.733-14T>C (n.733-14T>C) n.839-14T>C | gnomAD v4 |
| 14 | g.23431496G>A | CA2624251169 | MYH7 | c.733-15C>T (n.733-15C>T) n.839-15C>T | gnomAD v4 |
| 14 | g.23431496G= | CA2123451796 | MYH7 | c.733-15C= (n.733-15C=) n.839-15C= | |
| 14 | g.23431496G>T | CA048914 | MYH7 | c.733-15C>A (n.733-15C>A) n.839-15C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431496_23431497delinsGA | CA2123451797 | MYH7 | c.733-16_733-15delinsTC (n.733-16_733-15delinsTC) n.839-16_839-15delinsTC | |
| 14 | g.23431497del | CA198943 | MYH7 | c.733-16del (n.733-16del) n.839-16del | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431498G>A | CA048935 | MYH7 | c.733-17C>T (n.733-17C>T) n.839-17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431498G>C | CA2575486804 | MYH7 | c.733-17C>G (n.733-17C>G) n.839-17C>G | |
| 14 | g.23431498G= | CA2123451805 | MYH7 | c.733-17C= (n.733-17C=) n.839-17C= | |
| 14 | g.23431498G>T | CA048926 | MYH7 | c.733-17C>A (n.733-17C>A) n.839-17C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |