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.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>G | CA2800875273 | MYH7 | c.733-13T>C (n.733-13T>C) n.839-13T>C | |
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 |
14 | g.23431499A>G | CA2624251178 | MYH7 | c.733-18T>C (n.733-18T>C) n.839-18T>C | gnomAD v4 |
14 | g.23431500G>A | CA2580087894 | MYH7 | c.733-19C>T (n.733-19C>T) n.839-19C>T | ClinVar gnomAD v4 |
14 | g.23431501T>C | CA2624251181 | MYH7 | c.733-20A>G (n.733-20A>G) n.839-20A>G | gnomAD v4 |
14 | g.23431502G>C | CA704269249 | MYH7 | c.733-21C>G (n.733-21C>G) n.839-21C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23431502G= | CA2123451808 | MYH7 | c.733-21C= (n.733-21C=) n.839-21C= | |
14 | g.23431503G>A | CA048958 | MYH7 | c.733-22C>T (n.733-22C>T) n.839-22C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23431503G= | CA2123451810 | MYH7 | c.733-22C= (n.733-22C=) n.839-22C= | |
14 | g.23431507T>G | CA613317772 | MYH7 | c.733-26A>C (n.733-26A>C) n.839-26A>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23431507T= | CA2123451814 | MYH7 | c.733-26A= (n.733-26A=) n.839-26A= | |
14 | g.23431510G>A | CA048964 | MYH7 | c.733-29C>T (n.733-29C>T) n.839-29C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23431510G= | CA2123451818 | MYH7 | c.733-29C= (n.733-29C=) n.839-29C= | |
14 | g.23431510G>T | CA2624251191 | MYH7 | c.733-29C>A (n.733-29C>A) n.839-29C>A | gnomAD v4 |
14 | g.23431510_23431511delinsGT | CA2123451820 | MYH7 | c.733-30_733-29delinsAC (n.733-30_733-29delinsAC) n.839-30_839-29delinsAC | |
14 | g.23431511T>A | CA2624251197 | MYH7 | c.733-30A>T (n.733-30A>T) n.839-30A>T | gnomAD v4 |
14 | g.23431511T>C | CA048973 | MYH7 | c.733-30A>G (n.733-30A>G) n.839-30A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23431511T>G | CA2624251199 | MYH7 | c.733-30A>C (n.733-30A>C) n.839-30A>C | gnomAD v4 |
14 | g.23431511T= | CA2123451823 | MYH7 | c.733-30A= (n.733-30A=) n.839-30A= | |
14 | g.23431512del | CA613317773 | MYH7 | c.733-30del (n.733-30del) n.839-30del | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23431512T>C | CA048980 | MYH7 | c.733-31A>G (n.733-31A>G) n.839-31A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23431512T= | CA2123451826 | MYH7 | c.733-31A= (n.733-31A=) n.839-31A= | |
14 | g.23431514G>A | CA048988 | MYH7 | c.733-33C>T (n.733-33C>T) n.839-33C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23431514G= | CA2123451831 | MYH7 | c.733-33C= (n.733-33C=) n.839-33C= | |
14 | g.23431514G>T | CA704269251 | MYH7 | c.733-33C>A (n.733-33C>A) n.839-33C>A | dbSNP |
14 | g.23431515G>C | CA2624251207 | MYH7 | c.733-34C>G (n.733-34C>G) n.839-34C>G | gnomAD v4 |
14 | g.23431516G>A | CA2800875274 | MYH7 | c.733-35C>T (n.733-35C>T) n.839-35C>T | |
14 | g.23431517G>A | CA961070350 | MYH7 | c.733-36C>T (n.733-36C>T) n.839-36C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23431517G>C | CA257825910 | MYH7 | c.733-36C>G (n.733-36C>G) n.839-36C>G | dbSNP |
14 | g.23431517G= | CA2123451835 | MYH7 | c.733-36C= (n.733-36C=) n.839-36C= | |
14 | g.23431518A= | CA2123451840 | MYH7 | c.733-37T= (n.733-37T=) n.839-37T= | |
14 | g.23431518A>G | CA257825914 | MYH7 | c.733-37T>C (n.733-37T>C) n.839-37T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23431519A>C | CA2624251211 | MYH7 | c.733-38T>G (n.733-38T>G) n.839-38T>G | gnomAD v4 |
14 | g.23431520G>A | CA2123451845 | MYH7 | c.733-39C>T (n.733-39C>T) n.839-39C>T | dbSNP gnomAD v4 |