| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226914_5234326del | CA124673 | ClinVar | ||
| 11 | g.5234163T>A | CA124677 | HBD | c.143A>T (p.Asp48Val) c.92+179A>T (n.92+179A>T) | ClinVar dbSNP |
| 11 | g.5234163T>C | CA379277057 | HBD | c.143A>G (p.Asp48Gly) c.92+179A>G (n.92+179A>G) | |
| 11 | g.5234163T>G | CA379277056 | HBD | c.143A>C (p.Asp48Ala) c.92+179A>C (n.92+179A>C) | |
| 11 | g.5234163T= | CA1949565311 | HBD | c.143A= (p.Asp48=) c.92+179A= (n.92+179A=) | |
| 11 | g.5234164C>A | CA379277058 | HBD | c.142G>T (p.Asp48Tyr) c.92+178G>T (n.92+178G>T) | |
| 11 | g.5234164C>G | CA379277059 | HBD | c.142G>C (p.Asp48His) c.92+178G>C (n.92+178G>C) | |
| 11 | g.5234164C>T | CA379277060 | HBD | c.142G>A (p.Asp48Asn) c.92+178G>A (n.92+178G>A) | COSMIC |
| 11 | g.5234165C>A | CA5839953 | HBD | c.141G>T (p.Gly47=) c.92+177G>T (n.92+177G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234165C= | CA1949565316 | HBD | c.141G= (p.Gly47=) c.92+177G= (n.92+177G=) | |
| 11 | g.5234165C>G | CA472885888 | HBD | c.141G>C (p.Gly47=) c.92+177G>C (n.92+177G>C) | |
| 11 | g.5234165C>T | CA472885889 | HBD | c.141G>A (p.Gly47=) c.92+177G>A (n.92+177G>A) | gnomAD v4 |
| 11 | g.5234166C>A | CA217123990 | HBD | c.140G>T (p.Gly47Val) c.92+176G>T (n.92+176G>T) | dbSNP |
| 11 | g.5234166C= | CA1949565319 | HBD | c.140G= (p.Gly47=) c.92+176G= (n.92+176G=) | |
| 11 | g.5234166C>G | CA379277061 | HBD | c.140G>C (p.Gly47Ala) c.92+176G>C (n.92+176G>C) | |
| 11 | g.5234166C>T | CA379277062 | HBD | c.140G>A (p.Gly47Glu) c.92+176G>A (n.92+176G>A) | gnomAD v4 |
| 11 | g.5234167C>A | CA379277063 | HBD | c.139G>T (p.Gly47Trp) c.92+175G>T (n.92+175G>T) | |
| 11 | g.5234167C>G | CA379277064 | HBD | c.139G>C (p.Gly47Arg) c.92+175G>C (n.92+175G>C) | |
| 11 | g.5234167C>T | CA379277065 | HBD | c.139G>A (p.Gly47Arg) c.92+175G>A (n.92+175G>A) | |
| 11 | g.5234168A>C | CA379277066 | HBD | c.138T>G (p.Phe46Leu) c.92+174T>G (n.92+174T>G) | |
| 11 | g.5234168A>G | CA472885890 | HBD | c.138T>C (p.Phe46=) c.92+174T>C (n.92+174T>C) | |
| 11 | g.5234168A>T | CA379277067 | HBD | c.138T>A (p.Phe46Leu) c.92+174T>A (n.92+174T>A) | |
| 11 | g.5234169A>C | CA379277070 | HBD | c.137T>G (p.Phe46Cys) c.92+173T>G (n.92+173T>G) | |
| 11 | g.5234169A>G | CA379277068 | HBD | c.137T>C (p.Phe46Ser) c.92+173T>C (n.92+173T>C) | |
| 11 | g.5234169A>T | CA379277069 | HBD | c.137T>A (p.Phe46Tyr) c.92+173T>A (n.92+173T>A) | |
| 11 | g.5234170A>C | CA379277071 | HBD | c.136T>G (p.Phe46Val) c.92+172T>G (n.92+172T>G) | |
| 11 | g.5234170A>G | CA379277072 | HBD | c.136T>C (p.Phe46Leu) c.92+172T>C (n.92+172T>C) | |
| 11 | g.5234170A>T | CA379277073 | HBD | c.136T>A (p.Phe46Ile) c.92+172T>A (n.92+172T>A) | |
| 11 | g.5234170_5234171delinsAG | CA1949565324 | HBD | c.135_136delinsCT (p.Ser45=) c.92+171_92+172delinsCT (n.92+171_92+172delinsCT) | |
| 11 | g.5234171G>A | CA472885894 | HBD | c.135C>T (p.Ser45=) c.92+171C>T (n.92+171C>T) | COSMIC |
| 11 | g.5234171G>C | CA472885895 | HBD | c.135C>G (p.Ser45=) c.92+171C>G (n.92+171C>G) | |
| 11 | g.5234171G>T | CA472885896 | HBD | c.135C>A (p.Ser45=) c.92+171C>A (n.92+171C>A) | |
| 11 | g.5234172del | CA677546293 | HBD | c.135del (p.Phe46LeufsTer16) c.92+171del (n.92+171del) | dbSNP |
| 11 | g.5234172G>A | CA5839954 | HBD | c.134C>T (p.Ser45Phe) c.92+170C>T (n.92+170C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.5234172G>C | CA379277074 | HBD | c.134C>G (p.Ser45Cys) c.92+170C>G (n.92+170C>G) | gnomAD v4 |
| 11 | g.5234172G= | CA1949565329 | HBD | c.134C= (p.Ser45=) c.92+170C= (n.92+170C=) | |
| 11 | g.5234172G>T | CA379277075 | HBD | c.134C>A (p.Ser45Tyr) c.92+170C>A (n.92+170C>A) | dbSNP gnomAD v4 |
| 11 | g.5234173A= | CA1949565332 | HBD | c.133T= (p.Ser45=) c.92+169T= (n.92+169T=) | |
| 11 | g.5234173A>C | CA379277076 | HBD | c.133T>G (p.Ser45Ala) c.92+169T>G (n.92+169T>G) | |
| 11 | g.5234173A>G | CA379277077 | HBD | c.133T>C (p.Ser45Pro) c.92+169T>C (n.92+169T>C) | |
| 11 | g.5234173A>T | CA379277078 | HBD | c.133T>A (p.Ser45Thr) c.92+169T>A (n.92+169T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234174C>A | CA379277079 | HBD | c.132G>T (p.Glu44Asp) c.92+168G>T (n.92+168G>T) | |
| 11 | g.5234174C>G | CA379277080 | HBD | c.132G>C (p.Glu44Asp) c.92+168G>C (n.92+168G>C) | |
| 11 | g.5234174C>T | CA472885898 | HBD | c.132G>A (p.Glu44=) c.92+168G>A (n.92+168G>A) | gnomAD v4 |
| 11 | g.5234175T>A | CA379277082 | HBD | c.131A>T (p.Glu44Val) c.92+167A>T (n.92+167A>T) | |
| 11 | g.5234175T>C | CA124695 | HBD | c.131A>G (p.Glu44Gly) c.92+167A>G (n.92+167A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5234175T>G | CA379277081 | HBD | c.131A>C (p.Glu44Ala) c.92+167A>C (n.92+167A>C) | |
| 11 | g.5234175T= | CA1949565337 | HBD | c.131A= (p.Glu44=) c.92+167A= (n.92+167A=) | |
| 11 | g.5234176C>A | CA379277083 | HBD | c.130G>T (p.Glu44Ter) c.92+166G>T (n.92+166G>T) | |
| 11 | g.5234176C= | CA1949565342 | HBD | c.130G= (p.Glu44=) c.92+166G= (n.92+166G=) |