UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226914_5234326del | CA124673 | ClinVar | ||
| 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=) | |
| 11 | g.5234176C>G | CA379277084 | HBD | c.130G>C (p.Glu44Gln) c.92+166G>C (n.92+166G>C) | gnomAD v4 |
| 11 | g.5234176C>T | CA124653 | HBD | c.130G>A (p.Glu44Lys) c.92+166G>A (n.92+166G>A) | ClinVar dbSNP |
| 11 | g.5234177A= | CA1949565348 | HBD | c.129T= (p.Phe43=) c.92+165T= (n.92+165T=) | |
| 11 | g.5234177A>C | CA379277085 | HBD | c.129T>G (p.Phe43Leu) c.92+165T>G (n.92+165T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234177A>G | CA472885899 | HBD | c.129T>C (p.Phe43=) c.92+165T>C (n.92+165T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234177A>T | CA379277086 | HBD | c.129T>A (p.Phe43Leu) c.92+165T>A (n.92+165T>A) | |
| 11 | g.5234178A= | CA1949565349 | HBD | c.128T= (p.Phe43=) c.92+164T= (n.92+164T=) | |
| 11 | g.5234178A>C | CA379277087 | HBD | c.128T>G (p.Phe43Cys) c.92+164T>G (n.92+164T>G) | |
| 11 | g.5234178A>G | CA5839956 | HBD | c.128T>C (p.Phe43Ser) c.92+164T>C (n.92+164T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234178A>T | CA5839955 | HBD | c.128T>A (p.Phe43Tyr) c.92+164T>A (n.92+164T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234179A>C | CA379277088 | HBD | c.127T>G (p.Phe43Val) c.92+163T>G (n.92+163T>G) | |
| 11 | g.5234179A>G | CA379277089 | HBD | c.127T>C (p.Phe43Leu) c.92+163T>C (n.92+163T>C) | |
| 11 | g.5234179A>T | CA379277090 | HBD | c.127T>A (p.Phe43Ile) c.92+163T>A (n.92+163T>A) | |
| 11 | g.5234180G>A | CA472885901 | HBD | c.126C>T (p.Phe42=) c.92+162C>T (n.92+162C>T) | |
| 11 | g.5234180G>C | CA379277091 | HBD | c.126C>G (p.Phe42Leu) c.92+162C>G (n.92+162C>G) | |
| 11 | g.5234180G>T | CA379277092 | HBD | c.126C>A (p.Phe42Leu) c.92+162C>A (n.92+162C>A) | COSMIC |
| 11 | g.5234181A>C | CA379277095 | HBD | c.125T>G (p.Phe42Cys) c.92+161T>G (n.92+161T>G) | |
| 11 | g.5234181A>G | CA379277093 | HBD | c.125T>C (p.Phe42Ser) c.92+161T>C (n.92+161T>C) | |
| 11 | g.5234181A>T | CA379277094 | HBD | c.125T>A (p.Phe42Tyr) c.92+161T>A (n.92+161T>A) | |
| 11 | g.5234182A>C | CA379277096 | HBD | c.124T>G (p.Phe42Val) c.92+160T>G (n.92+160T>G) | |
| 11 | g.5234182A>G | CA379277097 | HBD | c.124T>C (p.Phe42Leu) c.92+160T>C (n.92+160T>C) | |
| 11 | g.5234182A>T | CA379277098 | HBD | c.124T>A (p.Phe42Ile) c.92+160T>A (n.92+160T>A) | |
| 11 | g.5234183C>A | CA379277099 | HBD | c.123G>T (p.Arg41Ser) c.92+159G>T (n.92+159G>T) | |
| 11 | g.5234183C>G | CA379277100 | HBD | c.123G>C (p.Arg41Ser) c.92+159G>C (n.92+159G>C) | |
| 11 | g.5234183C>T | CA472885902 | HBD | c.123G>A (p.Arg41=) c.92+159G>A (n.92+159G>A) | |
| 11 | g.5234184C>A | CA379277101 | HBD | c.122G>T (p.Arg41Met) c.92+158G>T (n.92+158G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234184C= | CA1949565351 | HBD | c.122G= (p.Arg41=) c.92+158G= (n.92+158G=) | |
| 11 | g.5234184C>G | CA379277102 | HBD | c.122G>C (p.Arg41Thr) c.92+158G>C (n.92+158G>C) | gnomAD v4 |
| 11 | g.5234184C>T | CA379277103 | HBD | c.122G>A (p.Arg41Lys) c.92+158G>A (n.92+158G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.5234185T>A | CA379277104 | HBD | c.121A>T (p.Arg41Trp) c.92+157A>T (n.92+157A>T) | |
| 11 | g.5234185T>C | CA379277105 | HBD | c.121A>G (p.Arg41Gly) c.92+157A>G (n.92+157A>G) | |
| 11 | g.5234185T>G | CA472885904 | HBD | c.121A>C (p.Arg41=) c.92+157A>C (n.92+157A>C) | |
| 11 | g.5234186C>A | CA379277106 | HBD | c.120G>T (p.Gln40His) c.92+156G>T (n.92+156G>T) | |
| 11 | g.5234186C= | CA1949565355 | HBD | c.120G= (p.Gln40=) c.92+156G= (n.92+156G=) | |
| 11 | g.5234186C>G | CA217124015 | HBD | c.120G>C (p.Gln40His) c.92+156G>C (n.92+156G>C) | dbSNP COSMIC |
| 11 | g.5234186C>T | CA472885905 | HBD | c.120G>A (p.Gln40=) c.92+156G>A (n.92+156G>A) | |
| 11 | g.5234187T>A | CA379277109 | HBD | c.119A>T (p.Gln40Leu) c.92+155A>T (n.92+155A>T) | |
| 11 | g.5234187T>C | CA379277108 | HBD | c.119A>G (p.Gln40Arg) c.92+155A>G (n.92+155A>G) | |
| 11 | g.5234187T>G | CA379277107 | HBD | c.119A>C (p.Gln40Pro) c.92+155A>C (n.92+155A>C) | |
| 11 | g.5234188G>A | CA379277110 | HBD | c.118C>T (p.Gln40Ter) c.92+154C>T (n.92+154C>T) | |
| 11 | g.5234188G>C | CA379277112 | HBD | c.118C>G (p.Gln40Glu) c.92+154C>G (n.92+154C>G) | |
| 11 | g.5234188G>T | CA379277111 | HBD | c.118C>A (p.Gln40Lys) c.92+154C>A (n.92+154C>A) | COSMIC |
| 11 | g.5234189G>A | CA472885907 | HBD | c.117C>T (p.Thr39=) c.92+153C>T (n.92+153C>T) | |
| 11 | g.5234189G>C | CA472885908 | HBD | c.117C>G (p.Thr39=) c.92+153C>G (n.92+153C>G) | |
| 11 | g.5234189G>T | CA472885909 | HBD | c.117C>A (p.Thr39=) c.92+153C>A (n.92+153C>A) | |
| 11 | g.5234190G>A | CA379277113 | HBD | c.116C>T (p.Thr39Ile) c.92+152C>T (n.92+152C>T) | |
| 11 | g.5234190G>C | CA379277114 | HBD | c.116C>G (p.Thr39Ser) c.92+152C>G (n.92+152C>G) | |
| 11 | g.5234190G>T | CA379277115 | HBD | c.116C>A (p.Thr39Asn) c.92+152C>A (n.92+152C>A) | |
| 11 | g.5234191T>A | CA379277116 | HBD | c.115A>T (p.Thr39Ser) c.92+151A>T (n.92+151A>T) | |
| 11 | g.5234191T>C | CA379277117 | HBD | c.115A>G (p.Thr39Ala) c.92+151A>G (n.92+151A>G) | gnomAD v4 |
| 11 | g.5234191T>G | CA379277118 | HBD | c.115A>C (p.Thr39Pro) c.92+151A>C (n.92+151A>C) | |
| 11 | g.5234192C>A | CA379277119 | HBD | c.114G>T (p.Trp38Cys) c.92+150G>T (n.92+150G>T) | COSMIC |
| 11 | g.5234192C= | CA1949565359 | HBD | c.114G= (p.Trp38=) c.92+150G= (n.92+150G=) | |
| 11 | g.5234192C>G | CA379277120 | HBD | c.114G>C (p.Trp38Cys) c.92+150G>C (n.92+150G>C) | gnomAD v4 |
| 11 | g.5234192C>T | CA379277121 | HBD | c.114G>A (p.Trp38Ter) c.92+150G>A (n.92+150G>A) | dbSNP gnomAD v4 |
| 11 | g.5234193C>A | CA379277122 | HBD | c.113G>T (p.Trp38Leu) c.92+149G>T (n.92+149G>T) | |
| 11 | g.5234193C= | CA1949565373 | HBD | c.113G= (p.Trp38=) c.92+149G= (n.92+149G=) | |
| 11 | g.5234193C>G | CA379277123 | HBD | c.113G>C (p.Trp38Ser) c.92+149G>C (n.92+149G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234193C>T | CA124691 | HBD | c.113G>A (p.Trp38Ter) c.92+149G>A (n.92+149G>A) | ClinVar dbSNP |
| 11 | g.5234194A>C | CA379277126 | HBD | c.112T>G (p.Trp38Gly) c.92+148T>G (n.92+148T>G) | |
| 11 | g.5234194A>G | CA379277124 | HBD | c.112T>C (p.Trp38Arg) c.92+148T>C (n.92+148T>C) | gnomAD v4 |
| 11 | g.5234194A>T | CA379277125 | HBD | c.112T>A (p.Trp38Arg) c.92+148T>A (n.92+148T>A) | |
| 11 | g.5234195A= | CA1949565377 | HBD | c.111T= (p.Pro37=) c.92+147T= (n.92+147T=) | |
| 11 | g.5234195A>C | CA472885913 | HBD | c.111T>G (p.Pro37=) c.92+147T>G (n.92+147T>G) | gnomAD v4 |
| 11 | g.5234195A>G | CA472885914 | HBD | c.111T>C (p.Pro37=) c.92+147T>C (n.92+147T>C) | |
| 11 | g.5234195A>T | CA472885915 | HBD | c.111T>A (p.Pro37=) c.92+147T>A (n.92+147T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234196G>A | CA379277127 | HBD | c.110C>T (p.Pro37Leu) c.92+146C>T (n.92+146C>T) | gnomAD v4 |
| 11 | g.5234196G>C | CA379277128 | HBD | c.110C>G (p.Pro37Arg) c.92+146C>G (n.92+146C>G) | |
| 11 | g.5234196G= | CA1949565384 | HBD | c.110C= (p.Pro37=) c.92+146C= (n.92+146C=) | |
| 11 | g.5234196G>T | CA124699 | HBD | c.110C>A (p.Pro37His) c.92+146C>A (n.92+146C>A) | ClinVar dbSNP COSMIC |
| 11 | g.5234197G>A | CA379277129 | HBD | c.109C>T (p.Pro37Ser) c.92+145C>T (n.92+145C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234197G>C | CA379277130 | HBD | c.109C>G (p.Pro37Ala) c.92+145C>G (n.92+145C>G) | |
| 11 | g.5234197G= | CA1949565388 | HBD | c.109C= (p.Pro37=) c.92+145C= (n.92+145C=) | |
| 11 | g.5234197G>T | CA379277131 | HBD | c.109C>A (p.Pro37Thr) c.92+145C>A (n.92+145C>A) | gnomAD v4 |
| 11 | g.5234198G>A | CA472885917 | HBD | c.108C>T (p.Tyr36=) c.92+144C>T (n.92+144C>T) | dbSNP gnomAD v4 |
| 11 | g.5234198G>C | CA379277132 | HBD | c.108C>G (p.Tyr36Ter) c.92+144C>G (n.92+144C>G) | |
| 11 | g.5234198G= | CA1949565391 | HBD | c.108C= (p.Tyr36=) c.92+144C= (n.92+144C=) | |
| 11 | g.5234198G>T | CA379277133 | HBD | c.108C>A (p.Tyr36Ter) c.92+144C>A (n.92+144C>A) | |
| 11 | g.5234199T>A | CA379277134 | HBD | c.107A>T (p.Tyr36Phe) c.92+143A>T (n.92+143A>T) | |
| 11 | g.5234199T>C | CA379277135 | HBD | c.107A>G (p.Tyr36Cys) c.92+143A>G (n.92+143A>G) | |
| 11 | g.5234199T>G | CA379277136 | HBD | c.107A>C (p.Tyr36Ser) c.92+143A>C (n.92+143A>C) | |
| 11 | g.5234200A>C | CA379277139 | HBD | c.106T>G (p.Tyr36Asp) c.92+142T>G (n.92+142T>G) | |
| 11 | g.5234200A>G | CA379277138 | HBD | c.106T>C (p.Tyr36His) c.92+142T>C (n.92+142T>C) | |
| 11 | g.5234200A>T | CA379277137 | HBD | c.106T>A (p.Tyr36Asn) c.92+142T>A (n.92+142T>A) | |
| 11 | g.5234201G>A | CA472885919 | HBD | c.105C>T (p.Val35=) c.92+141C>T (n.92+141C>T) | |
| 11 | g.5234201G>C | CA472885920 | HBD | c.105C>G (p.Val35=) c.92+141C>G (n.92+141C>G) | |
| 11 | g.5234201G>T | CA472885921 | HBD | c.105C>A (p.Val35=) c.92+141C>A (n.92+141C>A) | gnomAD v4 |
| 11 | g.5234202A>C | CA379277142 | HBD | c.104T>G (p.Val35Gly) c.92+140T>G (n.92+140T>G) | |
| 11 | g.5234202A>G | CA379277140 | HBD | c.104T>C (p.Val35Ala) c.92+140T>C (n.92+140T>C) | |
| 11 | g.5234202A>T | CA379277141 | HBD | c.104T>A (p.Val35Asp) c.92+140T>A (n.92+140T>A) | ClinVar gnomAD v4 |
| 11 | g.5234203C>A | CA379277143 | HBD | c.103G>T (p.Val35Phe) c.92+139G>T (n.92+139G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234203C= | CA1949565396 | HBD | c.103G= (p.Val35=) c.92+139G= (n.92+139G=) | |
| 11 | g.5234203C>G | CA379277144 | HBD | c.103G>C (p.Val35Leu) c.92+139G>C (n.92+139G>C) | |
| 11 | g.5234203C>T | CA379277145 | HBD | c.103G>A (p.Val35Ile) c.92+139G>A (n.92+139G>A) | |
| 11 | g.5234204C>A | CA472885925 | HBD | c.102G>T (p.Val34=) c.92+138G>T (n.92+138G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234204C= | CA1949565401 | HBD | c.102G= (p.Val34=) c.92+138G= (n.92+138G=) | |
| 11 | g.5234204C>G | CA472885926 | HBD | c.102G>C (p.Val34=) c.92+138G>C (n.92+138G>C) | |
| 11 | g.5234204C>T | CA472885927 | HBD | c.102G>A (p.Val34=) c.92+138G>A (n.92+138G>A) | |
| 11 | g.5234205A= | CA1949565406 | HBD | c.101T= (p.Val34=) c.92+137T= (n.92+137T=) | |
| 11 | g.5234205A>C | CA379277148 | HBD | c.101T>G (p.Val34Gly) c.92+137T>G (n.92+137T>G) | dbSNP gnomAD v2 |
| 11 | g.5234205A>G | CA379277147 | HBD | c.101T>C (p.Val34Ala) c.92+137T>C (n.92+137T>C) | |
| 11 | g.5234205A>T | CA379277146 | HBD | c.101T>A (p.Val34Glu) c.92+137T>A (n.92+137T>A) | |
| 11 | g.5234206C>A | CA379277149 | HBD | c.100G>T (p.Val34Leu) c.92+136G>T (n.92+136G>T) | |
| 11 | g.5234206C>G | CA379277150 | HBD | c.100G>C (p.Val34Leu) c.92+136G>C (n.92+136G>C) | |
| 11 | g.5234206C>T | CA379277151 | HBD | c.100G>A (p.Val34Met) c.92+136G>A (n.92+136G>A) | gnomAD v4 |
| 11 | g.5234207C>A | CA472885930 | HBD | c.99G>T (p.Leu33=) c.92+135G>T (n.92+135G>T) | |
| 11 | g.5234207C>G | CA472885931 | HBD | c.99G>C (p.Leu33=) c.92+135G>C (n.92+135G>C) | |
| 11 | g.5234207C>T | CA472885932 | HBD | c.99G>A (p.Leu33=) c.92+135G>A (n.92+135G>A) | |
| 11 | g.5234208A>C | CA379277152 | HBD | c.98T>G (p.Leu33Arg) c.92+134T>G (n.92+134T>G) | |
| 11 | g.5234208A>G | CA379277153 | HBD | c.98T>C (p.Leu33Pro) c.92+134T>C (n.92+134T>C) | |
| 11 | g.5234208A>T | CA379277154 | HBD | c.98T>A (p.Leu33Gln) c.92+134T>A (n.92+134T>A) | |
| 11 | g.5234209G>A | CA217124024 | HBD | c.97C>T (p.Leu33=) c.92+133C>T (n.92+133C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234209G>C | CA379277156 | HBD | c.97C>G (p.Leu33Val) c.92+133C>G (n.92+133C>G) | |
| 11 | g.5234209G= | CA1949565410 | HBD | c.97C= (p.Leu33=) c.92+133C= (n.92+133C=) | |
| 11 | g.5234209G>T | CA379277155 | HBD | c.97C>A (p.Leu33Met) c.92+133C>A (n.92+133C>A) | dbSNP |
| 11 | g.5234209_5234228delinsGTAATCTGAGGGTAGGAAAA | CA1949565411 | HBD | c.93-15_97delinsTTTTCCTACCCTCAGATTAC c.92+114_92+133delinsTTTTCCTACCCTCAGATTAC (n.92+114_92+133delinsTTTTCCTACCCTCAGATTAC) | |
| 11 | g.5234210T>A | CA379277157 | HBD | c.96A>T (p.Leu32Phe) c.92+132A>T (n.92+132A>T) | gnomAD v4 |
| 11 | g.5234210T>C | CA472885936 | HBD | c.96A>G (p.Leu32=) c.92+132A>G (n.92+132A>G) | |
| 11 | g.5234210T>G | CA379277158 | HBD | c.96A>C (p.Leu32Phe) c.92+132A>C (n.92+132A>C) | |
| 11 | g.5234210_5234228del | CA597436186 | HBD | c.93-15_96del c.92+114_92+132del (n.92+114_92+132del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234211A>C | CA379277159 | HBD | c.95T>G (p.Leu32Ter) c.92+131T>G (n.92+131T>G) | |
| 11 | g.5234211A>G | CA379277160 | HBD | c.95T>C (p.Leu32Ser) c.92+131T>C (n.92+131T>C) | |
| 11 | g.5234211A>T | CA379277161 | HBD | c.95T>A (p.Leu32Ter) c.92+131T>A (n.92+131T>A) | |
| 11 | g.5234212A>C | CA379277162 | HBD | c.94T>G (p.Leu32Val) c.92+130T>G (n.92+130T>G) | |
| 11 | g.5234212A>G | CA472885937 | HBD | c.94T>C (p.Leu32=) c.92+130T>C (n.92+130T>C) | gnomAD v4 |
| 11 | g.5234212A>T | CA379277163 | HBD | c.94T>A (p.Leu32Ile) c.92+130T>A (n.92+130T>A) | |
| 11 | g.5234212_5234214del | CA645591001 | HBD | c.93-1_94del c.92+128_92+130del (n.92+128_92+130del) | COSMIC |
| 11 | g.5234213T>A | CA379277164 | HBD | c.93A>T (p.Arg31Ser) c.92+129A>T (n.92+129A>T) | |
| 11 | g.5234213T>C | CA472885939 | HBD | c.93A>G (p.Arg31=) c.92+129A>G (n.92+129A>G) | |
| 11 | g.5234213T>G | CA379277165 | HBD | c.93A>C (p.Arg31Ser) c.92+129A>C (n.92+129A>C) | |
| 11 | g.5234214C>A | CA379277166 | HBD | c.93-1G>T (n.93-1G>T) c.92+128G>T (n.92+128G>T) | |
| 11 | g.5234214C= | CA1949565425 | HBD | c.93-1G= (n.93-1G=) c.92+128G= (n.92+128G=) | |
| 11 | g.5234214C>G | CA5839957 | HBD | c.93-1G>C (n.93-1G>C) c.92+128G>C (n.92+128G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234214C>T | CA379277167 | HBD | c.93-1G>A (n.93-1G>A) c.92+128G>A (n.92+128G>A) | |
| 11 | g.5234215del | CA2695213009 | HBD | c.93-2del (n.93-2del) c.92+127del (n.92+127del) | |
| 11 | g.5234215T>A | CA379277169 | HBD | c.93-2A>T (n.93-2A>T) c.92+127A>T (n.92+127A>T) | |
| 11 | g.5234215T>C | CA379277170 | HBD | c.93-2A>G (n.93-2A>G) c.92+127A>G (n.92+127A>G) | |
| 11 | g.5234215T>G | CA379277168 | HBD | c.93-2A>C (n.93-2A>C) c.92+127A>C (n.92+127A>C) | |
| 11 | g.5234218G>C | CA597436187 | HBD | c.93-5C>G (n.93-5C>G) c.92+124C>G (n.92+124C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234218G= | CA1949565427 | HBD | c.93-5C= (n.93-5C=) c.92+124C= (n.92+124C=) | |
| 11 | g.5234219G>A | CA1949565435 | HBD | c.93-6C>T (n.93-6C>T) c.92+123C>T (n.92+123C>T) | dbSNP gnomAD v4 |
| 11 | g.5234219G= | CA1949565433 | HBD | c.93-6C= (n.93-6C=) c.92+123C= (n.92+123C=) | |
| 11 | g.5234220G>A | CA2612149173 | HBD | c.93-7C>T (n.93-7C>T) c.92+122C>T (n.92+122C>T) | gnomAD v4 |
| 11 | g.5234222A= | CA1949565439 | HBD | c.93-9T= (n.93-9T=) c.92+120T= (n.92+120T=) | |
| 11 | g.5234222A>G | CA597436188 | HBD | c.93-9T>C (n.93-9T>C) c.92+120T>C (n.92+120T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234223G>C | CA5839958 | HBD | c.93-10C>G (n.93-10C>G) c.92+119C>G (n.92+119C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234223G= | CA1949565445 | HBD | c.93-10C= (n.93-10C=) c.92+119C= (n.92+119C=) | |
| 11 | g.5234223G>T | CA1949565443 | HBD | c.93-10C>A (n.93-10C>A) c.92+119C>A (n.92+119C>A) | dbSNP |
| 11 | g.5234227A= | CA1949565448 | HBD | c.93-14T= (n.93-14T=) c.92+115T= (n.92+115T=) | |
| 11 | g.5234227A>G | CA5839959 | HBD | c.93-14T>C (n.93-14T>C) c.92+115T>C (n.92+115T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234229C= | CA1949565452 | HBD | c.93-16G= (n.93-16G=) c.92+113G= (n.92+113G=) | |
| 11 | g.5234229C>G | CA5839960 | HBD | c.93-16G>C (n.93-16G>C) c.92+113G>C (n.92+113G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234229C>T | CA5839961 | HBD | c.93-16G>A (n.93-16G>A) c.92+113G>A (n.92+113G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234230A= | CA1949565455 | HBD | c.93-17T= (n.93-17T=) c.92+112T= (n.92+112T=) | |
| 11 | g.5234230A>C | CA934688729 | HBD | c.93-17T>G (n.93-17T>G) c.92+112T>G (n.92+112T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234231G>A | CA5839962 | HBD | c.93-18C>T (n.93-18C>T) c.92+111C>T (n.92+111C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234231G>C | CA934688730 | HBD | c.93-18C>G (n.93-18C>G) c.92+111C>G (n.92+111C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234231G= | CA1949565461 | HBD | c.93-18C= (n.93-18C=) c.92+111C= (n.92+111C=) | |
| 11 | g.5234231G>T | CA2612149177 | HBD | c.93-18C>A (n.93-18C>A) c.92+111C>A (n.92+111C>A) | gnomAD v4 |
| 11 | g.5234232C>A | CA2790274404 | HBD | c.93-19G>T (n.93-19G>T) c.92+110G>T (n.92+110G>T) | |
| 11 | g.5234232C= | CA1949565465 | HBD | c.93-19G= (n.93-19G=) c.92+110G= (n.92+110G=) | |
| 11 | g.5234232C>T | CA5839963 | HBD | c.93-19G>A (n.93-19G>A) c.92+110G>A (n.92+110G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234234_5234342del | CA597436189 | HBD | c.92+2_93-19del c.92+2_92+110del | gnomAD v2 |
| 11 | g.5234233C= | CA1949565469 | HBD | c.93-20G= (n.93-20G=) c.92+109G= (n.92+109G=) | |
| 11 | g.5234233C>T | CA5839964 | HBD | c.93-20G>A (n.93-20G>A) c.92+109G>A (n.92+109G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234234C>T | CA2612149185 | HBD | c.93-21G>A (n.93-21G>A) c.92+108G>A (n.92+108G>A) | gnomAD v4 |
| 11 | g.5234235A= | CA1949565472 | HBD | c.93-22T= (n.93-22T=) c.92+107T= (n.92+107T=) | |
| 11 | g.5234235A>G | CA217124038 | HBD | c.93-22T>C (n.93-22T>C) c.92+107T>C (n.92+107T>C) | dbSNP gnomAD v4 |
| 11 | g.5234236A= | CA1949565475 | HBD | c.93-23T= (n.93-23T=) c.92+106T= (n.92+106T=) | |
| 11 | g.5234236A>G | CA5839965 | HBD | c.93-23T>C (n.93-23T>C) c.92+106T>C (n.92+106T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234236_5234237insTA | CA2790274406 | HBD | c.93-23_93-22insAT (n.93-23_93-22insAT) c.92+106_92+107insAT (n.92+106_92+107insAT) | |
| 11 | g.5234237G>A | CA2612149186 | HBD | c.93-24C>T (n.93-24C>T) c.92+105C>T (n.92+105C>T) | gnomAD v4 |
| 11 | g.5234239G>C | CA5839966 | HBD | c.93-26C>G (n.93-26C>G) c.92+103C>G (n.92+103C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234239G= | CA1949565477 | HBD | c.93-26C= (n.93-26C=) c.92+103C= (n.92+103C=) | |
| 11 | g.5234239G>T | CA2612149188 | HBD | c.93-26C>A (n.93-26C>A) c.92+103C>A (n.92+103C>A) | gnomAD v4 |
| 11 | g.5234241C= | CA1949565487 | HBD | c.93-28G= (n.93-28G=) c.92+101G= (n.92+101G=) | |
| 11 | g.5234241C>G | CA5839967 | HBD | c.93-28G>C (n.93-28G>C) c.92+101G>C (n.92+101G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234241C>T | CA1949565490 | HBD | c.93-28G>A (n.93-28G>A) c.92+101G>A (n.92+101G>A) | dbSNP |
| 11 | g.5234241_5234243delinsCAG | CA1949565491 | HBD | c.93-30_93-28delinsCTG (n.93-30_93-28delinsCTG) c.92+99_92+101delinsCTG (n.92+99_92+101delinsCTG) | |
| 11 | g.5234242A= | CA1949565497 | HBD | c.93-29T= (n.93-29T=) c.92+100T= (n.92+100T=) | |
| 11 | g.5234242A>G | CA5839968 | HBD | c.93-29T>C (n.93-29T>C) c.92+100T>C (n.92+100T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234246_5234247del | CA597436190 | HBD | c.93-30_93-29del (n.93-30_93-29del) c.92+99_92+100del (n.92+99_92+100del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234243G>A | CA5839969 | HBD | c.93-30C>T (n.93-30C>T) c.92+99C>T (n.92+99C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234243G= | CA1949565500 | HBD | c.93-30C= (n.93-30C=) c.92+99C= (n.92+99C=) | |
| 11 | g.5234245G>A | CA5839970 | HBD | c.93-32C>T (n.93-32C>T) c.92+97C>T (n.92+97C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234245G>C | CA934688731 | HBD | c.93-32C>G (n.93-32C>G) c.92+97C>G (n.92+97C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234245G= | CA1949565502 | HBD | c.93-32C= (n.93-32C=) c.92+97C= (n.92+97C=) | |
| 11 | g.5234246A= | CA1949565505 | HBD | c.93-33T= (n.93-33T=) c.92+96T= (n.92+96T=) | |
| 11 | g.5234246A>G | CA217124060 | HBD | c.93-33T>C (n.93-33T>C) c.92+96T>C (n.92+96T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234247G>A | CA5839971 | HBD | c.93-34C>T (n.93-34C>T) c.92+95C>T (n.92+95C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234247G= | CA1949565507 | HBD | c.93-34C= (n.93-34C=) c.92+95C= (n.92+95C=) | |
| 11 | g.5234248T>A | CA2612149202 | HBD | c.93-35A>T (n.93-35A>T) c.92+94A>T (n.92+94A>T) | gnomAD v4 |
| 11 | g.5234250A= | CA1949565509 | HBD | c.93-37T= (n.93-37T=) c.92+92T= (n.92+92T=) | |
| 11 | g.5234250A>G | CA5839972 | HBD | c.93-37T>C (n.93-37T>C) c.92+92T>C (n.92+92T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234251G>A | CA2612149205 | HBD | c.93-38C>T (n.93-38C>T) c.92+91C>T (n.92+91C>T) | gnomAD v4 |
| 11 | g.5234251G>C | CA5839973 | HBD | c.93-38C>G (n.93-38C>G) c.92+91C>G (n.92+91C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234251G= | CA1949565512 | HBD | c.93-38C= (n.93-38C=) c.92+91C= (n.92+91C=) | |
| 11 | g.5234253G= | CA1949565518 | HBD | c.93-40C= (n.93-40C=) c.92+89C= (n.92+89C=) | |
| 11 | g.5234253G>T | CA597436191 | HBD | c.93-40C>A (n.93-40C>A) c.92+89C>A (n.92+89C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234254C>A | CA2612149209 | HBD | c.93-41G>T (n.93-41G>T) c.92+88G>T (n.92+88G>T) | gnomAD v4 |
| 11 | g.5234254C= | CA1949565523 | HBD | c.93-41G= (n.93-41G=) c.92+88G= (n.92+88G=) | |
| 11 | g.5234254C>T | CA217124099 | HBD | c.93-41G>A (n.93-41G>A) c.92+88G>A (n.92+88G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234255C>T | CA2574735661 | HBD | c.93-42G>A (n.93-42G>A) c.92+87G>A (n.92+87G>A) | |
| 11 | g.5234256T>C | CA597436192 | HBD | c.93-43A>G (n.93-43A>G) c.92+86A>G (n.92+86A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234256T= | CA1949565527 | HBD | c.93-43A= (n.93-43A=) c.92+86A= (n.92+86A=) | |
| 11 | g.5234257A= | CA1949565529 | HBD | c.93-44T= (n.93-44T=) c.92+85T= (n.92+85T=) | |
| 11 | g.5234257A>C | CA5839974 | HBD | c.93-44T>G (n.93-44T>G) c.92+85T>G (n.92+85T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234257A>G | CA2612149216 | HBD | c.93-44T>C (n.93-44T>C) c.92+85T>C (n.92+85T>C) | gnomAD v4 |
| 11 | g.5234258T>C | CA2574735662 | HBD | c.93-45A>G (n.93-45A>G) c.92+84A>G (n.92+84A>G) | |
| 11 | g.5234258T= | CA1949565532 | HBD | c.93-45A= (n.93-45A=) c.92+84A= (n.92+84A=) | |
| 11 | g.5234259C= | CA1949565537 | HBD | c.93-46G= (n.93-46G=) c.92+83G= (n.92+83G=) | |
| 11 | g.5234259C>G | CA597436193 | HBD | c.93-46G>C (n.93-46G>C) c.92+83G>C (n.92+83G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234259_5234286dup | CA5839975 | HBD | c.92+56_93-46dup (n.92+56_93-46dup) c.92+56_92+83dup (n.92+56_92+83dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234260A= | CA1949565541 | HBD | c.93-47T= (n.93-47T=) c.92+82T= (n.92+82T=) | |
| 11 | g.5234260A>G | CA5839976 | HBD | c.93-47T>C (n.93-47T>C) c.92+82T>C (n.92+82T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234261G>T | CA2574735663 | HBD | c.93-48C>A (n.93-48C>A) c.92+81C>A (n.92+81C>A) | gnomAD v4 |
| 11 | g.5234264A>G | CA2612149227 | HBD | c.93-51T>C (n.93-51T>C) c.92+78T>C (n.92+78T>C) | gnomAD v4 |
| 11 | g.5234265C>A | CA5839977 | HBD | c.93-52G>T (n.93-52G>T) c.92+77G>T (n.92+77G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234265C= | CA1949565543 | HBD | c.93-52G= (n.93-52G=) c.92+77G= (n.92+77G=) | |
| 11 | g.5234265C>T | CA2612149231 | HBD | c.93-52G>A (n.93-52G>A) c.92+77G>A (n.92+77G>A) | gnomAD v4 |
| 11 | g.5234267C>G | CA2612149237 | HBD | c.93-54G>C (n.93-54G>C) c.92+75G>C (n.92+75G>C) | gnomAD v4 |