| 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.23431551C>A | CA2624251258 | MYH7 | c.732+34G>T (n.732+34G>T) n.838+34G>T | gnomAD v4 |
| 14 | g.23431551C= | CA2123451907 | MYH7 | c.732+34G= (n.732+34G=) n.838+34G= | |
| 14 | g.23431551C>T | CA2123451910 | MYH7 | c.732+34G>A (n.732+34G>A) n.838+34G>A | dbSNP |
| 14 | g.23431552C= | CA2123451914 | MYH7 | c.732+33G= (n.732+33G=) n.838+33G= | |
| 14 | g.23431554dup | CA2123451915 | MYH7 | c.732+32dup (n.732+32dup) n.838+32dup | dbSNP |
| 14 | g.23431555G>A | CA048854 | MYH7 | c.732+30C>T (n.732+30C>T) n.838+30C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431555G= | CA2123451917 | MYH7 | c.732+30C= (n.732+30C=) n.838+30C= | |
| 14 | g.23431557C>A | CA2562179035 | MYH7 | c.732+28G>T (n.732+28G>T) n.838+28G>T | |
| 14 | g.23431557C>T | CA2624251267 | MYH7 | c.732+28G>A (n.732+28G>A) n.838+28G>A | gnomAD v4 |
| 14 | g.23431559del | CA2624251265 | MYH7 | c.732+28del (n.732+28del) n.838+28del | gnomAD v4 |
| 14 | g.23431558C= | CA2123451920 | MYH7 | c.732+27G= (n.732+27G=) n.838+27G= | |
| 14 | g.23431558C>T | CA048849 | MYH7 | c.732+27G>A (n.732+27G>A) n.838+27G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431561A>C | CA2624251269 | MYH7 | c.732+24T>G (n.732+24T>G) n.838+24T>G | gnomAD v4 |
| 14 | g.23431562G>A | CA2624251272 | MYH7 | c.732+23C>T (n.732+23C>T) n.838+23C>T | gnomAD v4 |
| 14 | g.23431563G>A | CA2575486806 | MYH7 | c.732+22C>T (n.732+22C>T) n.838+22C>T | |
| 14 | g.23431563G= | CA2123451923 | MYH7 | c.732+22C= (n.732+22C=) n.838+22C= | |
| 14 | g.23431563G>T | CA613317779 | MYH7 | c.732+22C>A (n.732+22C>A) n.838+22C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431565C= | CA2123451926 | MYH7 | c.732+20G= (n.732+20G=) n.838+20G= | |
| 14 | g.23431565C>T | CA048841 | MYH7 | c.732+20G>A (n.732+20G>A) n.838+20G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431567A= | CA2123451927 | MYH7 | c.732+18T= (n.732+18T=) n.838+18T= | |
| 14 | g.23431567A>G | CA257825932 | MYH7 | c.732+18T>C (n.732+18T>C) n.838+18T>C | dbSNP |
| 14 | g.23431568G>A | CA485767309 | MYH7 | c.732+17C>T (n.732+17C>T) n.838+17C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431568G= | CA2123451931 | MYH7 | c.732+17C= (n.732+17C=) n.838+17C= | |
| 14 | g.23431568G>T | CA048829 | MYH7 | c.732+17C>A (n.732+17C>A) n.838+17C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431569G>A | CA961070371 | MYH7 | c.732+16C>T (n.732+16C>T) n.838+16C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431569G= | CA2123451934 | MYH7 | c.732+16C= (n.732+16C=) n.838+16C= | |
| 14 | g.23431571C>A | CA2728912925 | MYH7 | c.732+14G>T (n.732+14G>T) n.838+14G>T | dbSNP |
| 14 | g.23431571C= | CA2123451937 | MYH7 | c.732+14G= (n.732+14G=) n.838+14G= | |
| 14 | g.23431571C>G | CA048822 | MYH7 | c.732+14G>C (n.732+14G>C) n.838+14G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431574G>C | CA2624251287 | MYH7 | c.732+11C>G (n.732+11C>G) n.838+11C>G | gnomAD v4 |
| 14 | g.23431575G>A | CA645596431 | MYH7 | c.732+10C>T (n.732+10C>T) n.838+10C>T | COSMIC |
| 14 | g.23431576A= | CA2123451939 | MYH7 | c.732+9T= (n.732+9T=) n.838+9T= | |
| 14 | g.23431576A>G | CA2624251290 | MYH7 | c.732+9T>C (n.732+9T>C) n.838+9T>C | gnomAD v4 |
| 14 | g.23431576A>T | CA048895 | MYH7 | c.732+9T>A (n.732+9T>A) n.838+9T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431577C>G | CA2571126844 | MYH7 | c.732+8G>C (n.732+8G>C) n.838+8G>C | |
| 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 |