Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806207dupCA2618840877SCN8Ac.4796-75dup (n.4796-75dup)
c.2860-75dup
c.4673-75dup (n.4673-75dup)
c.4829-75dup (n.4829-75dup)
 gnomAD v4
12g.51806207delCA2596577951SCN8Ac.4796-75del (n.4796-75del)
c.2860-75del
c.4673-75del (n.4673-75del)
c.4829-75del (n.4829-75del)
 dbSNP gnomAD v3 gnomAD v4
12g.51806207A>GCA2618840878SCN8Ac.4796-75A>G (n.4796-75A>G)
c.2860-75A>G
c.4673-75A>G (n.4673-75A>G)
c.4829-75A>G (n.4829-75A>G)
 gnomAD v4
12g.51806208T>CCA2618840882SCN8Ac.4796-74T>C (n.4796-74T>C)
c.2860-74T>C
c.4673-74T>C (n.4673-74T>C)
c.4829-74T>C (n.4829-74T>C)
 gnomAD v4
12g.51806208T>GCA2036192261SCN8Ac.4796-74T>G (n.4796-74T>G)
c.2860-74T>G
c.4673-74T>G (n.4673-74T>G)
c.4829-74T>G (n.4829-74T>G)
 dbSNP gnomAD v4
12g.51806208T=CA2036192260SCN8Ac.4796-74T= (n.4796-74T=)
c.2860-74T=
c.4673-74T= (n.4673-74T=)
c.4829-74T= (n.4829-74T=)
12g.51806208_51806215delCA947652648SCN8Ac.4796-74_4796-67del (n.4796-74_4796-67del)
c.2860-74_2860-67del
c.4673-74_4673-67del (n.4673-74_4673-67del)
c.4829-74_4829-67del (n.4829-74_4829-67del)
12g.51806209G>ACA2575160520SCN8Ac.4796-73G>A (n.4796-73G>A)
c.2860-73G>A
c.4673-73G>A (n.4673-73G>A)
c.4829-73G>A (n.4829-73G>A)
 gnomAD v4
12g.51806209G>TCA2618840886SCN8Ac.4796-73G>T (n.4796-73G>T)
c.2860-73G>T
c.4673-73G>T (n.4673-73G>T)
c.4829-73G>T (n.4829-73G>T)
 gnomAD v4
12g.51806210C>ACA947652649SCN8Ac.4796-72C>A (n.4796-72C>A)
c.2860-72C>A
c.4673-72C>A (n.4673-72C>A)
c.4829-72C>A (n.4829-72C>A)
 gnomAD v3 gnomAD v4
12g.51806211C>ACA947652650SCN8Ac.4796-71C>A (n.4796-71C>A)
c.2860-71C>A
c.4673-71C>A (n.4673-71C>A)
c.4829-71C>A (n.4829-71C>A)
 gnomAD v3 gnomAD v4
12g.51806211C>TCA2618840888SCN8Ac.4796-71C>T (n.4796-71C>T)
c.2860-71C>T
c.4673-71C>T (n.4673-71C>T)
c.4829-71C>T (n.4829-71C>T)
 gnomAD v4
12g.51806212A>GCA2618840891SCN8Ac.4796-70A>G (n.4796-70A>G)
c.2860-70A>G
c.4673-70A>G (n.4673-70A>G)
c.4829-70A>G (n.4829-70A>G)
 gnomAD v4
12g.51806213G>ACA947652652SCN8Ac.4796-69G>A (n.4796-69G>A)
c.2860-69G>A
c.4673-69G>A (n.4673-69G>A)
c.4829-69G>A (n.4829-69G>A)
 gnomAD v3 gnomAD v4
12g.51806213G>CCA947652653SCN8Ac.4796-69G>C (n.4796-69G>C)
c.2860-69G>C
c.4673-69G>C (n.4673-69G>C)
c.4829-69G>C (n.4829-69G>C)
 dbSNP gnomAD v3 gnomAD v4
12g.51806213G=CA2036192264SCN8Ac.4796-69G= (n.4796-69G=)
c.2860-69G=
c.4673-69G= (n.4673-69G=)
c.4829-69G= (n.4829-69G=)
12g.51806213G>TCA2618840894SCN8Ac.4796-69G>T (n.4796-69G>T)
c.2860-69G>T
c.4673-69G>T (n.4673-69G>T)
c.4829-69G>T (n.4829-69G>T)
 gnomAD v4
12g.51806214G>ACA947652654SCN8Ac.4796-68G>A (n.4796-68G>A)
c.2860-68G>A
c.4673-68G>A (n.4673-68G>A)
c.4829-68G>A (n.4829-68G>A)
 gnomAD v3 gnomAD v4
12g.51806214G>TCA2618840898SCN8Ac.4796-68G>T (n.4796-68G>T)
c.2860-68G>T
c.4673-68G>T (n.4673-68G>T)
c.4829-68G>T (n.4829-68G>T)
 gnomAD v4
12g.51806215T>ACA2618840903SCN8Ac.4796-67T>A (n.4796-67T>A)
c.2860-67T>A
c.4673-67T>A (n.4673-67T>A)
c.4829-67T>A (n.4829-67T>A)
 gnomAD v4
12g.51806215T>GCA2618840905SCN8Ac.4796-67T>G (n.4796-67T>G)
c.2860-67T>G
c.4673-67T>G (n.4673-67T>G)
c.4829-67T>G (n.4829-67T>G)
 gnomAD v4
12g.51806215T=CA2036192269SCN8Ac.4796-67T= (n.4796-67T=)
c.2860-67T=
c.4673-67T= (n.4673-67T=)
c.4829-67T= (n.4829-67T=)
12g.51806216A=CA2036192274SCN8Ac.4796-66A= (n.4796-66A=)
c.2860-66A=
c.4673-66A= (n.4673-66A=)
c.4829-66A= (n.4829-66A=)
12g.51806216A>CCA2618840916SCN8Ac.4796-66A>C (n.4796-66A>C)
c.2860-66A>C
c.4673-66A>C (n.4673-66A>C)
c.4829-66A>C (n.4829-66A>C)
 gnomAD v4
12g.51806216A>TCA236327264SCN8Ac.4796-66A>T (n.4796-66A>T)
c.2860-66A>T
c.4673-66A>T (n.4673-66A>T)
c.4829-66A>T (n.4829-66A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806223dupCA236327263SCN8Ac.4796-59dup (n.4796-59dup)
c.2860-59dup
c.4673-59dup (n.4673-59dup)
c.4829-59dup (n.4829-59dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806216_51806223dupCA947652659SCN8Ac.4796-66_4796-59dup (n.4796-66_4796-59dup)
c.2860-66_2860-59dup
c.4673-66_4673-59dup (n.4673-66_4673-59dup)
c.4829-66_4829-59dup (n.4829-66_4829-59dup)
12g.51806223delCA947652663SCN8Ac.4796-59del (n.4796-59del)
c.2860-59del
c.4673-59del (n.4673-59del)
c.4829-59del (n.4829-59del)
 gnomAD v3 gnomAD v4
12g.51806222_51806223delCA2618840914SCN8Ac.4796-60_4796-59del (n.4796-60_4796-59del)
c.2860-60_2860-59del
c.4673-60_4673-59del (n.4673-60_4673-59del)
c.4829-60_4829-59del (n.4829-60_4829-59del)
 gnomAD v4
12g.51806218A=CA2036192276SCN8Ac.4796-64A= (n.4796-64A=)
c.2860-64A=
c.4673-64A= (n.4673-64A=)
c.4829-64A= (n.4829-64A=)
12g.51806218A>GCA689803559SCN8Ac.4796-64A>G (n.4796-64A>G)
c.2860-64A>G
c.4673-64A>G (n.4673-64A>G)
c.4829-64A>G (n.4829-64A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.51806220A>CCA2618840922SCN8Ac.4796-62A>C (n.4796-62A>C)
c.2860-62A>C
c.4673-62A>C (n.4673-62A>C)
c.4829-62A>C (n.4829-62A>C)
 gnomAD v4
12g.51806221A>CCA2618840925SCN8Ac.4796-61A>C (n.4796-61A>C)
c.2860-61A>C
c.4673-61A>C (n.4673-61A>C)
c.4829-61A>C (n.4829-61A>C)
 gnomAD v4
12g.51806222_51806223insTCA2618840927SCN8Ac.4796-60_4796-59insT (n.4796-60_4796-59insT)
c.2860-60_2860-59insT
c.4673-60_4673-59insT (n.4673-60_4673-59insT)
c.4829-60_4829-59insT (n.4829-60_4829-59insT)
 gnomAD v4
12g.51806223A=CA2036192280SCN8Ac.4796-59A= (n.4796-59A=)
c.2860-59A=
c.4673-59A= (n.4673-59A=)
c.4829-59A= (n.4829-59A=)
12g.51806223A>GCA236327269SCN8Ac.4796-59A>G (n.4796-59A>G)
c.2860-59A>G
c.4673-59A>G (n.4673-59A>G)
c.4829-59A>G (n.4829-59A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.51806223A>TCA2618840928SCN8Ac.4796-59A>T (n.4796-59A>T)
c.2860-59A>T
c.4673-59A>T (n.4673-59A>T)
c.4829-59A>T (n.4829-59A>T)
 gnomAD v4
12g.51806224delCA2618840934SCN8Ac.4796-58del (n.4796-58del)
c.2860-58del
c.4673-58del (n.4673-58del)
c.4829-58del (n.4829-58del)
 gnomAD v4
12g.51806224T>ACA2618840933SCN8Ac.4796-58T>A (n.4796-58T>A)
c.2860-58T>A
c.4673-58T>A (n.4673-58T>A)
c.4829-58T>A (n.4829-58T>A)
 gnomAD v4
12g.51806224T>CCA2618840932SCN8Ac.4796-58T>C (n.4796-58T>C)
c.2860-58T>C
c.4673-58T>C (n.4673-58T>C)
c.4829-58T>C (n.4829-58T>C)
 gnomAD v4
12g.51806224T>GCA2618840930SCN8Ac.4796-58T>G (n.4796-58T>G)
c.2860-58T>G
c.4673-58T>G (n.4673-58T>G)
c.4829-58T>G (n.4829-58T>G)
 gnomAD v4
12g.51806224_51806228delinsTAAAGCA2036192281SCN8Ac.4796-58_4796-54delinsTAAAG (n.4796-58_4796-54delinsTAAAG)
c.2860-58_2860-54delinsTAAAG
c.4673-58_4673-54delinsTAAAG (n.4673-58_4673-54delinsTAAAG)
c.4829-58_4829-54delinsTAAAG (n.4829-58_4829-54delinsTAAAG)
12g.51806225A>CCA2618840936SCN8Ac.4796-57A>C (n.4796-57A>C)
c.2860-57A>C
c.4673-57A>C (n.4673-57A>C)
c.4829-57A>C (n.4829-57A>C)
 gnomAD v4
12g.51806225A>GCA2618840938SCN8Ac.4796-57A>G (n.4796-57A>G)
c.2860-57A>G
c.4673-57A>G (n.4673-57A>G)
c.4829-57A>G (n.4829-57A>G)
 gnomAD v4
12g.51806225A>TCA2618840958SCN8Ac.4796-57A>T (n.4796-57A>T)
c.2860-57A>T
c.4673-57A>T (n.4673-57A>T)
c.4829-57A>T (n.4829-57A>T)
 gnomAD v4
12g.51806226_51806227delCA2795967141SCN8Ac.4796-56_4796-55del (n.4796-56_4796-55del)
c.2860-56_2860-55del
c.4673-56_4673-55del (n.4673-56_4673-55del)
c.4829-56_4829-55del (n.4829-56_4829-55del)
12g.51806226_51806229delCA605238629SCN8Ac.4796-56_4796-53del (n.4796-56_4796-53del)
c.2860-56_2860-53del
c.4673-56_4673-53del (n.4673-56_4673-53del)
c.4829-56_4829-53del (n.4829-56_4829-53del)
 dbSNP gnomAD v2
12g.51806229_51806234delCA2618840959SCN8Ac.4796-53_4796-48del (n.4796-53_4796-48del)
c.2860-53_2860-48del
c.4673-53_4673-48del (n.4673-53_4673-48del)
c.4829-53_4829-48del (n.4829-53_4829-48del)
 gnomAD v4
12g.51806226A=CA2036192283SCN8Ac.4796-56A= (n.4796-56A=)
c.2860-56A=
c.4673-56A= (n.4673-56A=)
c.4829-56A= (n.4829-56A=)
12g.51806226A>CCA2618840962SCN8Ac.4796-56A>C (n.4796-56A>C)
c.2860-56A>C
c.4673-56A>C (n.4673-56A>C)
c.4829-56A>C (n.4829-56A>C)
 gnomAD v4
12g.51806226A>GCA2036192284SCN8Ac.4796-56A>G (n.4796-56A>G)
c.2860-56A>G
c.4673-56A>G (n.4673-56A>G)
c.4829-56A>G (n.4829-56A>G)
 dbSNP gnomAD v4
12g.51806227A>CCA2618840963SCN8Ac.4796-55A>C (n.4796-55A>C)
c.2860-55A>C
c.4673-55A>C (n.4673-55A>C)
c.4829-55A>C (n.4829-55A>C)
 gnomAD v4
12g.51806228G>ACA2618840965SCN8Ac.4796-54G>A (n.4796-54G>A)
c.2860-54G>A
c.4673-54G>A (n.4673-54G>A)
c.4829-54G>A (n.4829-54G>A)
 gnomAD v4
12g.51806228G>CCA2618840970SCN8Ac.4796-54G>C (n.4796-54G>C)
c.2860-54G>C
c.4673-54G>C (n.4673-54G>C)
c.4829-54G>C (n.4829-54G>C)
 gnomAD v4
12g.51806228G>TCA2618840971SCN8Ac.4796-54G>T (n.4796-54G>T)
c.2860-54G>T
c.4673-54G>T (n.4673-54G>T)
c.4829-54G>T (n.4829-54G>T)
 gnomAD v4
12g.51806229A>TCA2618840974SCN8Ac.4796-53A>T (n.4796-53A>T)
c.2860-53A>T
c.4673-53A>T (n.4673-53A>T)
c.4829-53A>T (n.4829-53A>T)
 gnomAD v4
12g.51806230G>CCA2036192289SCN8Ac.4796-52G>C (n.4796-52G>C)
c.2860-52G>C
c.4673-52G>C (n.4673-52G>C)
c.4829-52G>C (n.4829-52G>C)
 dbSNP gnomAD v4
12g.51806230G=CA2036192287SCN8Ac.4796-52G= (n.4796-52G=)
c.2860-52G=
c.4673-52G= (n.4673-52G=)
c.4829-52G= (n.4829-52G=)
12g.51806230G>TCA2618841062SCN8Ac.4796-52G>T (n.4796-52G>T)
c.2860-52G>T
c.4673-52G>T (n.4673-52G>T)
c.4829-52G>T (n.4829-52G>T)
 gnomAD v4
12g.51806231A>CCA2618841068SCN8Ac.4796-51A>C (n.4796-51A>C)
c.2860-51A>C
c.4673-51A>C (n.4673-51A>C)
c.4829-51A>C (n.4829-51A>C)
 gnomAD v4
12g.51806232A=CA2036192291SCN8Ac.4796-50A= (n.4796-50A=)
c.2860-50A=
c.4673-50A= (n.4673-50A=)
c.4829-50A= (n.4829-50A=)
12g.51806232A>GCA689803563SCN8Ac.4796-50A>G (n.4796-50A>G)
c.2860-50A>G
c.4673-50A>G (n.4673-50A>G)
c.4829-50A>G (n.4829-50A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.51806233A=CA2036192294SCN8Ac.4796-49A= (n.4796-49A=)
c.2860-49A=
c.4673-49A= (n.4673-49A=)
c.4829-49A= (n.4829-49A=)
12g.51806233A>GCA6571864SCN8Ac.4796-49A>G (n.4796-49A>G)
c.2860-49A>G
c.4673-49A>G (n.4673-49A>G)
c.4829-49A>G (n.4829-49A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806233A>TCA2618841075SCN8Ac.4796-49A>T (n.4796-49A>T)
c.2860-49A>T
c.4673-49A>T (n.4673-49A>T)
c.4829-49A>T (n.4829-49A>T)
 gnomAD v4
12g.51806234G>ACA2618841078SCN8Ac.4796-48G>A (n.4796-48G>A)
c.2860-48G>A
c.4673-48G>A (n.4673-48G>A)
c.4829-48G>A (n.4829-48G>A)
 gnomAD v4
12g.51806234G>CCA2618841079SCN8Ac.4796-48G>C (n.4796-48G>C)
c.2860-48G>C
c.4673-48G>C (n.4673-48G>C)
c.4829-48G>C (n.4829-48G>C)
 gnomAD v4
12g.51806234G>TCA2618841080SCN8Ac.4796-48G>T (n.4796-48G>T)
c.2860-48G>T
c.4673-48G>T (n.4673-48G>T)
c.4829-48G>T (n.4829-48G>T)
 gnomAD v4
12g.51806235G>ACA2618841085SCN8Ac.4796-47G>A (n.4796-47G>A)
c.2860-47G>A
c.4673-47G>A (n.4673-47G>A)
c.4829-47G>A (n.4829-47G>A)
 gnomAD v4
12g.51806235G>TCA2618841087SCN8Ac.4796-47G>T (n.4796-47G>T)
c.2860-47G>T
c.4673-47G>T (n.4673-47G>T)
c.4829-47G>T (n.4829-47G>T)
 gnomAD v4
12g.51806236G>ACA605238630SCN8Ac.4796-46G>A (n.4796-46G>A)
c.2860-46G>A
c.4673-46G>A (n.4673-46G>A)
c.4829-46G>A (n.4829-46G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51806236G>CCA2618841092SCN8Ac.4796-46G>C (n.4796-46G>C)
c.2860-46G>C
c.4673-46G>C (n.4673-46G>C)
c.4829-46G>C (n.4829-46G>C)
 gnomAD v4
12g.51806236G=CA2036192298SCN8Ac.4796-46G= (n.4796-46G=)
c.2860-46G=
c.4673-46G= (n.4673-46G=)
c.4829-46G= (n.4829-46G=)
12g.51806236G>TCA2618841093SCN8Ac.4796-46G>T (n.4796-46G>T)
c.2860-46G>T
c.4673-46G>T (n.4673-46G>T)
c.4829-46G>T (n.4829-46G>T)
 gnomAD v4
12g.51806237T>ACA2618841094SCN8Ac.4796-45T>A (n.4796-45T>A)
c.2860-45T>A
c.4673-45T>A (n.4673-45T>A)
c.4829-45T>A (n.4829-45T>A)
 gnomAD v4
12g.51806237T>CCA2618841095SCN8Ac.4796-45T>C (n.4796-45T>C)
c.2860-45T>C
c.4673-45T>C (n.4673-45T>C)
c.4829-45T>C (n.4829-45T>C)
 gnomAD v4
12g.51806237T>GCA6571865SCN8Ac.4796-45T>G (n.4796-45T>G)
c.2860-45T>G
c.4673-45T>G (n.4673-45T>G)
c.4829-45T>G (n.4829-45T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806237T=CA2036192303SCN8Ac.4796-45T= (n.4796-45T=)
c.2860-45T=
c.4673-45T= (n.4673-45T=)
c.4829-45T= (n.4829-45T=)
12g.51806238G>ACA2618841101SCN8Ac.4796-44G>A (n.4796-44G>A)
c.2860-44G>A
c.4673-44G>A (n.4673-44G>A)
c.4829-44G>A (n.4829-44G>A)
 gnomAD v4
12g.51806238G>TCA2618841131SCN8Ac.4796-44G>T (n.4796-44G>T)
c.2860-44G>T
c.4673-44G>T (n.4673-44G>T)
c.4829-44G>T (n.4829-44G>T)
 gnomAD v4
12g.51806239T>ACA2618841140SCN8Ac.4796-43T>A (n.4796-43T>A)
c.2860-43T>A
c.4673-43T>A (n.4673-43T>A)
c.4829-43T>A (n.4829-43T>A)
 gnomAD v4
12g.51806239T>CCA605238631SCN8Ac.4796-43T>C (n.4796-43T>C)
c.2860-43T>C
c.4673-43T>C (n.4673-43T>C)
c.4829-43T>C (n.4829-43T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51806239T>GCA2618841137SCN8Ac.4796-43T>G (n.4796-43T>G)
c.2860-43T>G
c.4673-43T>G (n.4673-43T>G)
c.4829-43T>G (n.4829-43T>G)
 gnomAD v4
12g.51806239T=CA2036192306SCN8Ac.4796-43T= (n.4796-43T=)
c.2860-43T=
c.4673-43T= (n.4673-43T=)
c.4829-43T= (n.4829-43T=)
12g.51806240C>ACA2618841145SCN8Ac.4796-42C>A (n.4796-42C>A)
c.2860-42C>A
c.4673-42C>A (n.4673-42C>A)
c.4829-42C>A (n.4829-42C>A)
 gnomAD v4
12g.51806240C>TCA2618841146SCN8Ac.4796-42C>T (n.4796-42C>T)
c.2860-42C>T
c.4673-42C>T (n.4673-42C>T)
c.4829-42C>T (n.4829-42C>T)
 gnomAD v4
12g.51806241T>CCA2618841149SCN8Ac.4796-41T>C (n.4796-41T>C)
c.2860-41T>C
c.4673-41T>C (n.4673-41T>C)
c.4829-41T>C (n.4829-41T>C)
 gnomAD v4
12g.51806242C>ACA2618841151SCN8Ac.4796-40C>A (n.4796-40C>A)
c.2860-40C>A
c.4673-40C>A (n.4673-40C>A)
c.4829-40C>A (n.4829-40C>A)
 gnomAD v4
12g.51806242C>GCA2618841153SCN8Ac.4796-40C>G (n.4796-40C>G)
c.2860-40C>G
c.4673-40C>G (n.4673-40C>G)
c.4829-40C>G (n.4829-40C>G)
 gnomAD v4
12g.51806244delCA2618841150SCN8Ac.4796-38del (n.4796-38del)
c.2860-38del
c.4673-38del (n.4673-38del)
c.4829-38del (n.4829-38del)
 gnomAD v4
12g.51806243C>ACA2618841156SCN8Ac.4796-39C>A (n.4796-39C>A)
c.2860-39C>A
c.4673-39C>A (n.4673-39C>A)
c.4829-39C>A (n.4829-39C>A)
 gnomAD v4
12g.51806243_51806244insAATCA2618841163SCN8Ac.4796-39_4796-38insAAT (n.4796-39_4796-38insAAT)
c.2860-39_2860-38insAAT
c.4673-39_4673-38insAAT (n.4673-39_4673-38insAAT)
c.4829-39_4829-38insAAT (n.4829-39_4829-38insAAT)
 gnomAD v4
12g.51806244C>ACA6571866SCN8Ac.4796-38C>A (n.4796-38C>A)
c.2860-38C>A
c.4673-38C>A (n.4673-38C>A)
c.4829-38C>A (n.4829-38C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806244C=CA2036192312SCN8Ac.4796-38C= (n.4796-38C=)
c.2860-38C=
c.4673-38C= (n.4673-38C=)
c.4829-38C= (n.4829-38C=)
12g.51806244C>GCA2036192310SCN8Ac.4796-38C>G (n.4796-38C>G)
c.2860-38C>G
c.4673-38C>G (n.4673-38C>G)
c.4829-38C>G (n.4829-38C>G)
 dbSNP gnomAD v4
12g.51806244C>TCA947652667SCN8Ac.4796-38C>T (n.4796-38C>T)
c.2860-38C>T
c.4673-38C>T (n.4673-38C>T)
c.4829-38C>T (n.4829-38C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.51806244_51806245insTCAAAGAGAAAGGGTGTCTCCACA2618841168SCN8Ac.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA (n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA)
c.2860-38_2860-37insTCAAAGAGAAAGGGTGTCTCCA
c.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA (n.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA)
c.4829-38_4829-37insTCAAAGAGAAAGGGTGTCTCCA (n.4829-38_4829-37insTCAAAGAGAAAGGGTGTCTCCA)
 gnomAD v4
12g.51806245A>GCA2618841170SCN8Ac.4796-37A>G (n.4796-37A>G)
c.2860-37A>G
c.4673-37A>G (n.4673-37A>G)
c.4829-37A>G (n.4829-37A>G)
 gnomAD v4
12g.51806245_51806246delCA2618841169SCN8Ac.4796-37_4796-36del (n.4796-37_4796-36del)
c.2860-37_2860-36del
c.4673-37_4673-36del (n.4673-37_4673-36del)
c.4829-37_4829-36del (n.4829-37_4829-36del)
 gnomAD v4
12g.51806246T>CCA2036192317SCN8Ac.4796-36T>C (n.4796-36T>C)
c.2860-36T>C
c.4673-36T>C (n.4673-36T>C)
c.4829-36T>C (n.4829-36T>C)
 dbSNP gnomAD v4
12g.51806246T>GCA2618841175SCN8Ac.4796-36T>G (n.4796-36T>G)
c.2860-36T>G
c.4673-36T>G (n.4673-36T>G)
c.4829-36T>G (n.4829-36T>G)
 gnomAD v4
12g.51806246T=CA2036192315SCN8Ac.4796-36T= (n.4796-36T=)
c.2860-36T=
c.4673-36T= (n.4673-36T=)
c.4829-36T= (n.4829-36T=)
12g.51806247C>ACA6571867SCN8Ac.4796-35C>A (n.4796-35C>A)
c.2860-35C>A
c.4673-35C>A (n.4673-35C>A)
c.4829-35C>A (n.4829-35C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806247C=CA2036192319SCN8Ac.4796-35C= (n.4796-35C=)
c.2860-35C=
c.4673-35C= (n.4673-35C=)
c.4829-35C= (n.4829-35C=)
12g.51806247C>GCA2618841181SCN8Ac.4796-35C>G (n.4796-35C>G)
c.2860-35C>G
c.4673-35C>G (n.4673-35C>G)
c.4829-35C>G (n.4829-35C>G)
 gnomAD v4
12g.51806248T>CCA2618841183SCN8Ac.4796-34T>C (n.4796-34T>C)
c.2860-34T>C
c.4673-34T>C (n.4673-34T>C)
c.4829-34T>C (n.4829-34T>C)
 gnomAD v4
12g.51806248T>GCA2618841187SCN8Ac.4796-34T>G (n.4796-34T>G)
c.2860-34T>G
c.4673-34T>G (n.4673-34T>G)
c.4829-34T>G (n.4829-34T>G)
 gnomAD v4
12g.51806249C>ACA2618841206SCN8Ac.4796-33C>A (n.4796-33C>A)
c.2860-33C>A
c.4673-33C>A (n.4673-33C>A)
c.4829-33C>A (n.4829-33C>A)
 gnomAD v4
12g.51806249C>GCA2618841207SCN8Ac.4796-33C>G (n.4796-33C>G)
c.2860-33C>G
c.4673-33C>G (n.4673-33C>G)
c.4829-33C>G (n.4829-33C>G)
 gnomAD v4
12g.51806249C>TCA2575160521SCN8Ac.4796-33C>T (n.4796-33C>T)
c.2860-33C>T
c.4673-33C>T (n.4673-33C>T)
c.4829-33C>T (n.4829-33C>T)
12g.51806251A=CA2036192322SCN8Ac.4796-31A= (n.4796-31A=)
c.2860-31A=
c.4673-31A= (n.4673-31A=)
c.4829-31A= (n.4829-31A=)
12g.51806251A>CCA2618841211SCN8Ac.4796-31A>C (n.4796-31A>C)
c.2860-31A>C
c.4673-31A>C (n.4673-31A>C)
c.4829-31A>C (n.4829-31A>C)
 gnomAD v4
12g.51806251A>GCA689803576SCN8Ac.4796-31A>G (n.4796-31A>G)
c.2860-31A>G
c.4673-31A>G (n.4673-31A>G)
c.4829-31A>G (n.4829-31A>G)
 dbSNP gnomAD v4
12g.51806253A>CCA2618841215SCN8Ac.4796-29A>C (n.4796-29A>C)
c.2860-29A>C
c.4673-29A>C (n.4673-29A>C)
c.4829-29A>C (n.4829-29A>C)
 gnomAD v4
12g.51806253A>GCA2575160522SCN8Ac.4796-29A>G (n.4796-29A>G)
c.2860-29A>G
c.4673-29A>G (n.4673-29A>G)
c.4829-29A>G (n.4829-29A>G)
12g.51806254A>GCA2618841218SCN8Ac.4796-28A>G (n.4796-28A>G)
c.2860-28A>G
c.4673-28A>G (n.4673-28A>G)
c.4829-28A>G (n.4829-28A>G)
 gnomAD v4
12g.51806254A>TCA2618841219SCN8Ac.4796-28A>T (n.4796-28A>T)
c.2860-28A>T
c.4673-28A>T (n.4673-28A>T)
c.4829-28A>T (n.4829-28A>T)
 gnomAD v4
12g.51806255C>ACA2618841222SCN8Ac.4796-27C>A (n.4796-27C>A)
c.2860-27C>A
c.4673-27C>A (n.4673-27C>A)
c.4829-27C>A (n.4829-27C>A)
 gnomAD v4
12g.51806255C=CA2036192326SCN8Ac.4796-27C= (n.4796-27C=)
c.2860-27C=
c.4673-27C= (n.4673-27C=)
c.4829-27C= (n.4829-27C=)
12g.51806255C>TCA6571868SCN8Ac.4796-27C>T (n.4796-27C>T)
c.2860-27C>T
c.4673-27C>T (n.4673-27C>T)
c.4829-27C>T (n.4829-27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806256A=CA2036192653SCN8Ac.4796-26A= (n.4796-26A=)
c.2860-26A=
c.4673-26A= (n.4673-26A=)
c.4829-26A= (n.4829-26A=)
12g.51806256A>GCA6571870SCN8Ac.4796-26A>G (n.4796-26A>G)
c.2860-26A>G
c.4673-26A>G (n.4673-26A>G)
c.4829-26A>G (n.4829-26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806256A>TCA6571869SCN8Ac.4796-26A>T (n.4796-26A>T)
c.2860-26A>T
c.4673-26A>T (n.4673-26A>T)
c.4829-26A>T (n.4829-26A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806257_51806258delCA2618841273SCN8Ac.4796-25_4796-24del (n.4796-25_4796-24del)
c.2860-25_2860-24del
c.4673-25_4673-24del (n.4673-25_4673-24del)
c.4829-25_4829-24del (n.4829-25_4829-24del)
 gnomAD v4
12g.51806257T>CCA2618841276SCN8Ac.4796-25T>C (n.4796-25T>C)
c.2860-25T>C
c.4673-25T>C (n.4673-25T>C)
c.4829-25T>C (n.4829-25T>C)
 gnomAD v4
12g.51806258A>CCA2618841278SCN8Ac.4796-24A>C (n.4796-24A>C)
c.2860-24A>C
c.4673-24A>C (n.4673-24A>C)
c.4829-24A>C (n.4829-24A>C)
 gnomAD v4
12g.51806258_51806261delinsAACTCA2036192656SCN8Ac.4796-24_4796-21delinsAACT (n.4796-24_4796-21delinsAACT)
c.2860-24_2860-21delinsAACT
c.4673-24_4673-21delinsAACT (n.4673-24_4673-21delinsAACT)
c.4829-24_4829-21delinsAACT (n.4829-24_4829-21delinsAACT)
12g.51806259_51806261delCA2036192658SCN8Ac.4796-23_4796-21del (n.4796-23_4796-21del)
c.2860-23_2860-21del
c.4673-23_4673-21del (n.4673-23_4673-21del)
c.4829-23_4829-21del (n.4829-23_4829-21del)
 dbSNP
12g.51806260C>ACA2618841279SCN8Ac.4796-22C>A (n.4796-22C>A)
c.2860-22C>A
c.4673-22C>A (n.4673-22C>A)
c.4829-22C>A (n.4829-22C>A)
 gnomAD v4
12g.51806265_51806267delCA2795967142SCN8Ac.4796-17_4796-15del (n.4796-17_4796-15del)
c.2860-17_2860-15del
c.4673-17_4673-15del (n.4673-17_4673-15del)
c.4829-17_4829-15del (n.4829-17_4829-15del)
12g.51806261T>ACA2618841282SCN8Ac.4796-21T>A (n.4796-21T>A)
c.2860-21T>A
c.4673-21T>A (n.4673-21T>A)
c.4829-21T>A (n.4829-21T>A)
 gnomAD v4
12g.51806261T>GCA2618841284SCN8Ac.4796-21T>G (n.4796-21T>G)
c.2860-21T>G
c.4673-21T>G (n.4673-21T>G)
c.4829-21T>G (n.4829-21T>G)
 gnomAD v4
12g.51806262T>ACA2618841285SCN8Ac.4796-20T>A (n.4796-20T>A)
c.2860-20T>A
c.4673-20T>A (n.4673-20T>A)
c.4829-20T>A (n.4829-20T>A)
 gnomAD v4
12g.51806262T>GCA2618841286SCN8Ac.4796-20T>G (n.4796-20T>G)
c.2860-20T>G
c.4673-20T>G (n.4673-20T>G)
c.4829-20T>G (n.4829-20T>G)
 gnomAD v4
12g.51806263C>ACA2618841289SCN8Ac.4796-19C>A (n.4796-19C>A)
c.2860-19C>A
c.4673-19C>A (n.4673-19C>A)
c.4829-19C>A (n.4829-19C>A)
 gnomAD v4
12g.51806263C>GCA2618841291SCN8Ac.4796-19C>G (n.4796-19C>G)
c.2860-19C>G
c.4673-19C>G (n.4673-19C>G)
c.4829-19C>G (n.4829-19C>G)
 gnomAD v4
12g.51806263C>TCA2618841294SCN8Ac.4796-19C>T (n.4796-19C>T)
c.2860-19C>T
c.4673-19C>T (n.4673-19C>T)
c.4829-19C>T (n.4829-19C>T)
 gnomAD v4
12g.51806266C>ACA2618841298SCN8Ac.4796-16C>A (n.4796-16C>A)
c.2860-16C>A
c.4673-16C>A (n.4673-16C>A)
c.4829-16C>A (n.4829-16C>A)
 gnomAD v4
12g.51806266C=CA2036192661SCN8Ac.4796-16C= (n.4796-16C=)
c.2860-16C=
c.4673-16C= (n.4673-16C=)
c.4829-16C= (n.4829-16C=)
12g.51806266C>GCA2036192662SCN8Ac.4796-16C>G (n.4796-16C>G)
c.2860-16C>G
c.4673-16C>G (n.4673-16C>G)
c.4829-16C>G (n.4829-16C>G)
 dbSNP
12g.51806268_51806269dupCA2739272033SCN8Ac.4796-14_4796-13dup (n.4796-14_4796-13dup)
c.2860-14_2860-13dup
c.4673-14_4673-13dup (n.4673-14_4673-13dup)
c.4829-14_4829-13dup (n.4829-14_4829-13dup)
 ClinVar
12g.51806268A>GCA2618841299SCN8Ac.4796-14A>G (n.4796-14A>G)
c.2860-14A>G
c.4673-14A>G (n.4673-14A>G)
c.4829-14A>G (n.4829-14A>G)
 gnomAD v4
12g.51806269T>CCA2618841301SCN8Ac.4796-13T>C (n.4796-13T>C)
c.2860-13T>C
c.4673-13T>C (n.4673-13T>C)
c.4829-13T>C (n.4829-13T>C)
 gnomAD v4
12g.51806271C>ACA2618841305SCN8Ac.4796-11C>A (n.4796-11C>A)
c.2860-11C>A
c.4673-11C>A (n.4673-11C>A)
c.4829-11C>A (n.4829-11C>A)
 gnomAD v4
12g.51806271C>GCA2795967143SCN8Ac.4796-11C>G (n.4796-11C>G)
c.2860-11C>G
c.4673-11C>G (n.4673-11C>G)
c.4829-11C>G (n.4829-11C>G)
12g.51806271C>TCA2618841304SCN8Ac.4796-11C>T (n.4796-11C>T)
c.2860-11C>T
c.4673-11C>T (n.4673-11C>T)
c.4829-11C>T (n.4829-11C>T)
 gnomAD v4
12g.51806272C>ACA2618841308SCN8Ac.4796-10C>A (n.4796-10C>A)
c.2860-10C>A
c.4673-10C>A (n.4673-10C>A)
c.4829-10C>A (n.4829-10C>A)
 gnomAD v4
12g.51806272C=CA2036192664SCN8Ac.4796-10C= (n.4796-10C=)
c.2860-10C=
c.4673-10C= (n.4673-10C=)
c.4829-10C= (n.4829-10C=)
12g.51806272C>GCA2575160523SCN8Ac.4796-10C>G (n.4796-10C>G)
c.2860-10C>G
c.4673-10C>G (n.4673-10C>G)
c.4829-10C>G (n.4829-10C>G)
 ClinVar gnomAD v4
12g.51806272C>TCA689803587SCN8Ac.4796-10C>T (n.4796-10C>T)
c.2860-10C>T
c.4673-10C>T (n.4673-10C>T)
c.4829-10C>T (n.4829-10C>T)
 ClinVar dbSNP gnomAD v4
12g.51806274C>ACA2618841316SCN8Ac.4796-8C>A (n.4796-8C>A)
c.2860-8C>A
c.4673-8C>A (n.4673-8C>A)
c.4829-8C>A (n.4829-8C>A)
 gnomAD v4
12g.51806274C=CA2036192665SCN8Ac.4796-8C= (n.4796-8C=)
c.2860-8C=
c.4673-8C= (n.4673-8C=)
c.4829-8C= (n.4829-8C=)
12g.51806274C>TCA6571871SCN8Ac.4796-8C>T (n.4796-8C>T)
c.2860-8C>T
c.4673-8C>T (n.4673-8C>T)
c.4829-8C>T (n.4829-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806277C>TCA2618841322SCN8Ac.4796-5C>T (n.4796-5C>T)
c.2860-5C>T
c.4673-5C>T (n.4673-5C>T)
c.4829-5C>T (n.4829-5C>T)
 gnomAD v4
12g.51806280A>CCA384880247SCN8Ac.4796-2A>C (n.4796-2A>C)
c.2860-2A>C
c.4673-2A>C (n.4673-2A>C)
c.4829-2A>C (n.4829-2A>C)
12g.51806280A>GCA384880248SCN8Ac.4796-2A>G (n.4796-2A>G)
c.2860-2A>G
c.4673-2A>G (n.4673-2A>G)
c.4829-2A>G (n.4829-2A>G)
12g.51806280A>TCA384880249SCN8Ac.4796-2A>T (n.4796-2A>T)
c.2860-2A>T
c.4673-2A>T (n.4673-2A>T)
c.4829-2A>T (n.4829-2A>T)
12g.51806281G>ACA384880250SCN8Ac.4796-1G>A (n.4796-1G>A)
c.2860-1G>A
c.4673-1G>A (n.4673-1G>A)
c.4829-1G>A (n.4829-1G>A)
12g.51806281G>CCA384880251SCN8Ac.4796-1G>C (n.4796-1G>C)
c.2860-1G>C
c.4673-1G>C (n.4673-1G>C)
c.4829-1G>C (n.4829-1G>C)
12g.51806281G>TCA384880252SCN8Ac.4796-1G>T (n.4796-1G>T)
c.2860-1G>T
c.4673-1G>T (n.4673-1G>T)
c.4829-1G>T (n.4829-1G>T)
 gnomAD v4
12g.51806282G>ACA384880253SCN8Ac.4796G>A (p.Gly1599Glu)
c.2860G>A
c.4673G>A (p.Gly1558Glu)
c.4829G>A (p.Gly1610Glu)
12g.51806282G>CCA384880255SCN8Ac.4796G>C (p.Gly1599Ala)
c.2860G>C
c.4673G>C (p.Gly1558Ala)
c.4829G>C (p.Gly1610Ala)
12g.51806282G>TCA384880254SCN8Ac.4796G>T (p.Gly1599Val)
c.2860G>T
c.4673G>T (p.Gly1558Val)
c.4829G>T (p.Gly1610Val)
 gnomAD v4
12g.51806283A>CCA479787987SCN8Ac.4797A>C (p.Gly1599=)
c.2861A>C
c.4674A>C (p.Gly1558=)
c.4830A>C (p.Gly1610=)
12g.51806283A>GCA479787988SCN8Ac.4797A>G (p.Gly1599=)
c.2861A>G
c.4674A>G (p.Gly1558=)
c.4830A>G (p.Gly1610=)
12g.51806283A>TCA479787989SCN8Ac.4797A>T (p.Gly1599=)
c.2861A>T
c.4674A>T (p.Gly1558=)
c.4830A>T (p.Gly1610=)
12g.51806284A=CA2036192673SCN8Ac.4798A= (p.Met1600=)
c.2862A=
c.4675A= (p.Met1559=)
c.4831A= (p.Met1611=)
12g.51806284A>CCA384880256SCN8Ac.4798A>C (p.Met1600Leu)
c.2862A>C
c.4675A>C (p.Met1559Leu)
c.4831A>C (p.Met1611Leu)
12g.51806284A>GCA318286SCN8Ac.4798A>G (p.Met1600Val)
c.2862A>G
c.4675A>G (p.Met1559Val)
c.4831A>G (p.Met1611Val)
 ClinVar dbSNP
12g.51806284A>TCA384880257SCN8Ac.4798A>T (p.Met1600Leu)
c.2862A>T
c.4675A>T (p.Met1559Leu)
c.4831A>T (p.Met1611Leu)
12g.51806285T>ACA384880258SCN8Ac.4799T>A (p.Met1600Lys)
c.2863T>A
c.4676T>A (p.Met1559Lys)
c.4832T>A (p.Met1611Lys)
12g.51806285T>CCA384880259SCN8Ac.4799T>C (p.Met1600Thr)
c.2863T>C
c.4676T>C (p.Met1559Thr)
c.4832T>C (p.Met1611Thr)
12g.51806285T>GCA384880260SCN8Ac.4799T>G (p.Met1600Arg)
c.2863T>G
c.4676T>G (p.Met1559Arg)
c.4832T>G (p.Met1611Arg)
12g.51806286G>ACA384880261SCN8Ac.4800G>A (p.Met1600Ile)
c.2864G>A
c.4677G>A (p.Met1559Ile)
c.4833G>A (p.Met1611Ile)
 ClinVar dbSNP
12g.51806286G>CCA384880262SCN8Ac.4800G>C (p.Met1600Ile)
c.2864G>C
c.4677G>C (p.Met1559Ile)
c.4833G>C (p.Met1611Ile)
12g.51806286G=CA2036192686SCN8Ac.4800G= (p.Met1600=)
c.2864G=
c.4677G= (p.Met1559=)
c.4833G= (p.Met1611=)
12g.51806286G>TCA384880263SCN8Ac.4800G>T (p.Met1600Ile)
c.2864G>T
c.4677G>T (p.Met1559Ile)
c.4833G>T (p.Met1611Ile)
12g.51806287T>ACA384880264SCN8Ac.4801T>A (p.Phe1601Ile)
c.2865T>A
c.4678T>A (p.Phe1560Ile)
c.4834T>A (p.Phe1612Ile)
12g.51806287T>CCA384880265SCN8Ac.4801T>C (p.Phe1601Leu)
c.2865T>C
c.4678T>C (p.Phe1560Leu)
c.4834T>C (p.Phe1612Leu)
12g.51806287T>GCA384880266SCN8Ac.4801T>G (p.Phe1601Val)
c.2865T>G
c.4678T>G (p.Phe1560Val)
c.4834T>G (p.Phe1612Val)
12g.51806288T>ACA384880267SCN8Ac.4802T>A (p.Phe1601Tyr)
c.2866T>A
c.4679T>A (p.Phe1560Tyr)
c.4835T>A (p.Phe1612Tyr)
12g.51806288T>CCA384880268SCN8Ac.4802T>C (p.Phe1601Ser)
c.2866T>C
c.4679T>C (p.Phe1560Ser)
c.4835T>C (p.Phe1612Ser)
12g.51806288T>GCA384880269SCN8Ac.4802T>G (p.Phe1601Cys)
c.2866T>G
c.4679T>G (p.Phe1560Cys)
c.4835T>G (p.Phe1612Cys)
12g.51806289C>ACA384880271SCN8Ac.4803C>A (p.Phe1601Leu)
c.2867C>A
c.4680C>A (p.Phe1560Leu)
c.4836C>A (p.Phe1612Leu)
12g.51806289C>GCA384880270SCN8Ac.4803C>G (p.Phe1601Leu)
c.2867C>G
c.4680C>G (p.Phe1560Leu)
c.4836C>G (p.Phe1612Leu)
12g.51806289C>TCA479787990SCN8Ac.4803C>T (p.Phe1601=)
c.2867C>T
c.4680C>T (p.Phe1560=)
c.4836C>T (p.Phe1612=)
12g.51806290C>ACA384880272SCN8Ac.4804C>A (p.Leu1602Met)
c.2868C>A
c.4681C>A (p.Leu1561Met)
c.4837C>A (p.Leu1613Met)
12g.51806290C>GCA384880273SCN8Ac.4804C>G (p.Leu1602Val)
c.2868C>G
c.4681C>G (p.Leu1561Val)
c.4837C>G (p.Leu1613Val)
12g.51806290C>TCA479787991SCN8Ac.4804C>T (p.Leu1602=)
c.2868C>T
c.4681C>T (p.Leu1561=)
c.4837C>T (p.Leu1613=)
12g.51806291T>ACA384880274SCN8Ac.4805T>A (p.Leu1602Gln)
c.2869T>A
c.4682T>A (p.Leu1561Gln)
c.4838T>A (p.Leu1613Gln)
12g.51806291T>CCA384880275SCN8Ac.4805T>C (p.Leu1602Pro)
c.2869T>C
c.4682T>C (p.Leu1561Pro)
c.4838T>C (p.Leu1613Pro)
12g.51806291T>GCA384880276SCN8Ac.4805T>G (p.Leu1602Arg)
c.2869T>G
c.4682T>G (p.Leu1561Arg)
c.4838T>G (p.Leu1613Arg)
12g.51806292G>ACA6571872SCN8Ac.4806G>A (p.Leu1602=)
c.2870G>A
c.4683G>A (p.Leu1561=)
c.4839G>A (p.Leu1613=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806292G>CCA479787992SCN8Ac.4806G>C (p.Leu1602=)
c.2870G>C
c.4683G>C (p.Leu1561=)
c.4839G>C (p.Leu1613=)
12g.51806292G=CA2036192691SCN8Ac.4806G= (p.Leu1602=)
c.2870G=
c.4683G= (p.Leu1561=)
c.4839G= (p.Leu1613=)
12g.51806292G>TCA479787993SCN8Ac.4806G>T (p.Leu1602=)
c.2870G>T
c.4683G>T (p.Leu1561=)
c.4839G>T (p.Leu1613=)
12g.51806293G>ACA384880277SCN8Ac.4807G>A (p.Ala1603Thr)
c.2871G>A
c.4684G>A (p.Ala1562Thr)
c.4840G>A (p.Ala1614Thr)
12g.51806293G>CCA384880278SCN8Ac.4807G>C (p.Ala1603Pro)
c.2871G>C
c.4684G>C (p.Ala1562Pro)
c.4840G>C (p.Ala1614Pro)
12g.51806293G>TCA384880279SCN8Ac.4807G>T (p.Ala1603Ser)
c.2871G>T
c.4684G>T (p.Ala1562Ser)
c.4840G>T (p.Ala1614Ser)
12g.51806294C>ACA384880280SCN8Ac.4808C>A (p.Ala1603Glu)
c.2872C>A
c.4685C>A (p.Ala1562Glu)
c.4841C>A (p.Ala1614Glu)
 gnomAD v4
12g.51806294C>GCA384880281SCN8Ac.4808C>G (p.Ala1603Gly)
c.2872C>G
c.4685C>G (p.Ala1562Gly)
c.4841C>G (p.Ala1614Gly)
12g.51806294C>TCA384880282SCN8Ac.4808C>T (p.Ala1603Val)
c.2872C>T
c.4685C>T (p.Ala1562Val)
c.4841C>T (p.Ala1614Val)
 gnomAD v4
12g.51806295A>CCA479787994SCN8Ac.4809A>C (p.Ala1603=)
c.2873A>C
c.4686A>C (p.Ala1562=)
c.4842A>C (p.Ala1614=)
12g.51806295A>GCA479787995SCN8Ac.4809A>G (p.Ala1603=)
c.2873A>G
c.4686A>G (p.Ala1562=)
c.4842A>G (p.Ala1614=)
 COSMIC COSMIC
12g.51806295A>TCA479787996SCN8Ac.4809A>T (p.Ala1603=)
c.2873A>T
c.4686A>T (p.Ala1562=)
c.4842A>T (p.Ala1614=)
12g.51806296G>ACA384880285SCN8Ac.4810G>A (p.Asp1604Asn)
c.2874G>A
c.4687G>A (p.Asp1563Asn)
c.4843G>A (p.Asp1615Asn)
12g.51806296G>CCA384880284SCN8Ac.4810G>C (p.Asp1604His)
c.2874G>C
c.4687G>C (p.Asp1563His)
c.4843G>C (p.Asp1615His)
12g.51806296G>TCA384880283SCN8Ac.4810G>T (p.Asp1604Tyr)
c.2874G>T
c.4687G>T (p.Asp1563Tyr)
c.4843G>T (p.Asp1615Tyr)
12g.51806297A>CCA384880288SCN8Ac.4811A>C (p.Asp1604Ala)
c.2875A>C
c.4688A>C (p.Asp1563Ala)
c.4844A>C (p.Asp1615Ala)
12g.51806297A>GCA384880286SCN8Ac.4811A>G (p.Asp1604Gly)
c.2875A>G
c.4688A>G (p.Asp1563Gly)
c.4844A>G (p.Asp1615Gly)
12g.51806297A>TCA384880287SCN8Ac.4811A>T (p.Asp1604Val)
c.2875A>T
c.4688A>T (p.Asp1563Val)
c.4844A>T (p.Asp1615Val)
12g.51806298T>ACA384880289SCN8Ac.4812T>A (p.Asp1604Glu)
c.2876T>A
c.4689T>A (p.Asp1563Glu)
c.4845T>A (p.Asp1615Glu)
12g.51806298T>CCA479787997SCN8Ac.4812T>C (p.Asp1604=)
c.2876T>C
c.4689T>C (p.Asp1563=)
c.4845T>C (p.Asp1615=)
 dbSNP
12g.51806298T>GCA384880290SCN8Ac.4812T>G (p.Asp1604Glu)
c.2876T>G
c.4689T>G (p.Asp1563Glu)
c.4845T>G (p.Asp1615Glu)
12g.51806298T=CA2036192701SCN8Ac.4812T= (p.Asp1604=)
c.2876T=
c.4689T= (p.Asp1563=)
c.4845T= (p.Asp1615=)
12g.51806299A=CA2036192710SCN8Ac.4813A= (p.Ile1605=)
c.2877A=
c.4690A= (p.Ile1564=)
c.4846A= (p.Ile1616=)
12g.51806299A>CCA384880291SCN8Ac.4813A>C (p.Ile1605Leu)
c.2877A>C
c.4690A>C (p.Ile1564Leu)
c.4846A>C (p.Ile1616Leu)
12g.51806299A>GCA10586304SCN8Ac.4813A>G (p.Ile1605Val)
c.2877A>G
c.4690A>G (p.Ile1564Val)
c.4846A>G (p.Ile1616Val)
 ClinVar dbSNP
12g.51806299A>TCA384880292SCN8Ac.4813A>T (p.Ile1605Leu)
c.2877A>T
c.4690A>T (p.Ile1564Leu)
c.4846A>T (p.Ile1616Leu)
12g.51806300T>ACA384880293SCN8Ac.4814T>A (p.Ile1605Lys)
c.2878T>A
c.4691T>A (p.Ile1564Lys)
c.4847T>A (p.Ile1616Lys)
12g.51806300T>CCA384880295SCN8Ac.4814T>C (p.Ile1605Thr)
c.2878T>C
c.4691T>C (p.Ile1564Thr)
c.4847T>C (p.Ile1616Thr)
 ClinVar dbSNP
12g.51806300T>GCA384880294SCN8Ac.4814T>G (p.Ile1605Arg)
c.2878T>G
c.4691T>G (p.Ile1564Arg)
c.4847T>G (p.Ile1616Arg)
12g.51806301A>CCA479787998SCN8Ac.4815A>C (p.Ile1605=)
c.2879A>C
c.4692A>C (p.Ile1564=)
c.4848A>C (p.Ile1616=)
12g.51806301A>GCA384880296SCN8Ac.4815A>G (p.Ile1605Met)
c.2879A>G
c.4692A>G (p.Ile1564Met)
c.4848A>G (p.Ile1616Met)
12g.51806301A>TCA479787999SCN8Ac.4815A>T (p.Ile1605=)
c.2879A>T
c.4692A>T (p.Ile1564=)
c.4848A>T (p.Ile1616=)
12g.51806302A>CCA384880297SCN8Ac.4816A>C (p.Ile1606Leu)
c.2880A>C
c.4693A>C (p.Ile1565Leu)
c.4849A>C (p.Ile1617Leu)
12g.51806302A>GCA384880298SCN8Ac.4816A>G (p.Ile1606Val)
c.2880A>G
c.4693A>G (p.Ile1565Val)
c.4849A>G (p.Ile1617Val)
12g.51806302A>TCA384880299SCN8Ac.4816A>T (p.Ile1606Phe)
c.2880A>T
c.4693A>T (p.Ile1565Phe)
c.4849A>T (p.Ile1617Phe)
12g.51806303T>ACA384880300SCN8Ac.4817T>A (p.Ile1606Asn)
c.2881T>A
c.4694T>A (p.Ile1565Asn)
c.4850T>A (p.Ile1617Asn)
12g.51806303T>CCA384880302SCN8Ac.4817T>C (p.Ile1606Thr)
c.2881T>C
c.4694T>C (p.Ile1565Thr)
c.4850T>C (p.Ile1617Thr)
 ClinVar dbSNP
12g.51806303T>GCA384880301SCN8Ac.4817T>G (p.Ile1606Ser)
c.2881T>G
c.4694T>G (p.Ile1565Ser)
c.4850T>G (p.Ile1617Ser)
12g.51806304T>ACA479788000SCN8Ac.4818T>A (p.Ile1606=)
c.2882T>A
c.4695T>A (p.Ile1565=)
c.4851T>A (p.Ile1617=)
12g.51806304T>CCA479788001SCN8Ac.4818T>C (p.Ile1606=)
c.2882T>C
c.4695T>C (p.Ile1565=)
c.4851T>C (p.Ile1617=)
12g.51806304T>GCA384880303SCN8Ac.4818T>G (p.Ile1606Met)
c.2882T>G
c.4695T>G (p.Ile1565Met)
c.4851T>G (p.Ile1617Met)
12g.51806305G>ACA384880304SCN8Ac.4819G>A (p.Glu1607Lys)
c.2883G>A
c.4696G>A (p.Glu1566Lys)
c.4852G>A (p.Glu1618Lys)
 ClinVar dbSNP COSMIC COSMIC
12g.51806305G>CCA384880305SCN8Ac.4819G>C (p.Glu1607Gln)
c.2883G>C
c.4696G>C (p.Glu1566Gln)
c.4852G>C (p.Glu1618Gln)
 COSMIC COSMIC
12g.51806305G=CA2036192718SCN8Ac.4819G= (p.Glu1607=)
c.2883G=
c.4696G= (p.Glu1566=)
c.4852G= (p.Glu1618=)
12g.51806305G>TCA384880306SCN8Ac.4819G>T (p.Glu1607Ter)
c.2883G>T
c.4696G>T (p.Glu1566Ter)
c.4852G>T (p.Glu1618Ter)
 dbSNP
12g.51806306A>CCA384880307SCN8Ac.4820A>C (p.Glu1607Ala)
c.2884A>C
c.4697A>C (p.Glu1566Ala)
c.4853A>C (p.Glu1618Ala)
12g.51806306A>GCA384880308SCN8Ac.4820A>G (p.Glu1607Gly)
c.2884A>G
c.4697A>G (p.Glu1566Gly)
c.4853A>G (p.Glu1618Gly)
12g.51806306A>TCA384880309SCN8Ac.4820A>T (p.Glu1607Val)
c.2884A>T
c.4697A>T (p.Glu1566Val)
c.4853A>T (p.Glu1618Val)
12g.51806307G>ACA479788003SCN8Ac.4821G>A (p.Glu1607=)
c.2885G>A
c.4698G>A (p.Glu1566=)
c.4854G>A (p.Glu1618=)
12g.51806307G>CCA384880310SCN8Ac.4821G>C (p.Glu1607Asp)
c.2885G>C
c.4698G>C (p.Glu1566Asp)
c.4854G>C (p.Glu1618Asp)
12g.51806307G>TCA384880311SCN8Ac.4821G>T (p.Glu1607Asp)
c.2885G>T
c.4698G>T (p.Glu1566Asp)
c.4854G>T (p.Glu1618Asp)

Number of alleles fetched