Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51765580C>ACA2618840627SCN8Ac.2545-91C>A (n.2545-91C>A)
c.392-91C>A
c.549-91C>A
n.2673-91C>A
c.2578-91C>A (n.2578-91C>A)
 gnomAD v4
12g.51765580C>TCA2618840628SCN8Ac.2545-91C>T (n.2545-91C>T)
c.392-91C>T
c.549-91C>T
n.2673-91C>T
c.2578-91C>T (n.2578-91C>T)
 gnomAD v4
12g.51765581T>GCA2575160151SCN8Ac.2545-90T>G (n.2545-90T>G)
c.392-90T>G
c.549-90T>G
n.2673-90T>G
c.2578-90T>G (n.2578-90T>G)
12g.51765583C>ACA2036183676SCN8Ac.2545-88C>A (n.2545-88C>A)
c.392-88C>A
c.549-88C>A
n.2673-88C>A
c.2578-88C>A (n.2578-88C>A)
 dbSNP gnomAD v4
12g.51765583C=CA2036183674SCN8Ac.2545-88C= (n.2545-88C=)
c.392-88C=
c.549-88C=
n.2673-88C=
c.2578-88C= (n.2578-88C=)
12g.51765584C>ACA2618840629SCN8Ac.2545-87C>A (n.2545-87C>A)
c.392-87C>A
c.549-87C>A
n.2673-87C>A
c.2578-87C>A (n.2578-87C>A)
 gnomAD v4
12g.51765585T>CCA2036183682SCN8Ac.2545-86T>C (n.2545-86T>C)
c.392-86T>C
c.549-86T>C
n.2673-86T>C
c.2578-86T>C (n.2578-86T>C)
 dbSNP
12g.51765585T=CA2036183679SCN8Ac.2545-86T= (n.2545-86T=)
c.392-86T=
c.549-86T=
n.2673-86T=
c.2578-86T= (n.2578-86T=)
12g.51765586A>GCA2618840630SCN8Ac.2545-85A>G (n.2545-85A>G)
c.392-85A>G
c.549-85A>G
n.2673-85A>G
c.2578-85A>G (n.2578-85A>G)
 gnomAD v4
12g.51765588T>GCA2618840631SCN8Ac.2545-83T>G (n.2545-83T>G)
c.392-83T>G
c.549-83T>G
n.2673-83T>G
c.2578-83T>G (n.2578-83T>G)
 gnomAD v4
12g.51765592A=CA2036183687SCN8Ac.2545-79A= (n.2545-79A=)
c.392-79A=
c.549-79A=
n.2673-79A=
c.2578-79A= (n.2578-79A=)
12g.51765592A>CCA689780180SCN8Ac.2545-79A>C (n.2545-79A>C)
c.392-79A>C
c.549-79A>C
n.2673-79A>C
c.2578-79A>C (n.2578-79A>C)
 dbSNP gnomAD v3 gnomAD v4
12g.51765592A>GCA236317021SCN8Ac.2545-79A>G (n.2545-79A>G)
c.392-79A>G
c.549-79A>G
n.2673-79A>G
c.2578-79A>G (n.2578-79A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.51765593T>CCA2795979517SCN8Ac.2545-78T>C (n.2545-78T>C)
c.392-78T>C
c.549-78T>C
n.2673-78T>C
c.2578-78T>C (n.2578-78T>C)
12g.51765593T>GCA2618840632SCN8Ac.2545-78T>G (n.2545-78T>G)
c.392-78T>G
c.549-78T>G
n.2673-78T>G
c.2578-78T>G (n.2578-78T>G)
 gnomAD v4
12g.51765595T>CCA2575160152SCN8Ac.2545-76T>C (n.2545-76T>C)
c.392-76T>C
c.549-76T>C
n.2673-76T>C
c.2578-76T>C (n.2578-76T>C)
12g.51765595T>GCA2036183694SCN8Ac.2545-76T>G (n.2545-76T>G)
c.392-76T>G
c.549-76T>G
n.2673-76T>G
c.2578-76T>G (n.2578-76T>G)
 dbSNP gnomAD v4
12g.51765595T=CA2036183693SCN8Ac.2545-76T= (n.2545-76T=)
c.392-76T=
c.549-76T=
n.2673-76T=
c.2578-76T= (n.2578-76T=)
12g.51765596T>GCA2618840634SCN8Ac.2545-75T>G (n.2545-75T>G)
c.392-75T>G
c.549-75T>G
n.2673-75T>G
c.2578-75T>G (n.2578-75T>G)
 gnomAD v4
12g.51765601_51765605delCA2618840633SCN8Ac.2545-70_2545-66del (n.2545-70_2545-66del)
c.392-70_392-66del
c.549-70_549-66del
n.2673-70_2673-66del
c.2578-70_2578-66del (n.2578-70_2578-66del)
 gnomAD v4
12g.51765599T>GCA2618840635SCN8Ac.2545-72T>G (n.2545-72T>G)
c.392-72T>G
c.549-72T>G
n.2673-72T>G
c.2578-72T>G (n.2578-72T>G)
 gnomAD v4
12g.51765600A=CA2036183696SCN8Ac.2545-71A= (n.2545-71A=)
c.392-71A=
c.549-71A=
n.2673-71A=
c.2578-71A= (n.2578-71A=)
12g.51765600A>TCA689780181SCN8Ac.2545-71A>T (n.2545-71A>T)
c.392-71A>T
c.549-71A>T
n.2673-71A>T
c.2578-71A>T (n.2578-71A>T)
 dbSNP gnomAD v4
12g.51765600_51765602delinsATTCA2036183698SCN8Ac.2545-71_2545-69delinsATT (n.2545-71_2545-69delinsATT)
c.392-71_392-69delinsATT
c.549-71_549-69delinsATT
n.2673-71_2673-69delinsATT
c.2578-71_2578-69delinsATT (n.2578-71_2578-69delinsATT)
12g.51765603_51765604delCA605238501SCN8Ac.2545-68_2545-67del (n.2545-68_2545-67del)
c.392-68_392-67del
c.549-68_549-67del
n.2673-68_2673-67del
c.2578-68_2578-67del (n.2578-68_2578-67del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765602T>CCA605238502SCN8Ac.2545-69T>C (n.2545-69T>C)
c.392-69T>C
c.549-69T>C
n.2673-69T>C
c.2578-69T>C (n.2578-69T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765602T=CA2036183702SCN8Ac.2545-69T= (n.2545-69T=)
c.392-69T=
c.549-69T=
n.2673-69T=
c.2578-69T= (n.2578-69T=)
12g.51765605A>TCA2575160153SCN8Ac.2545-66A>T (n.2545-66A>T)
c.392-66A>T
c.549-66A>T
n.2673-66A>T
c.2578-66A>T (n.2578-66A>T)
 gnomAD v4
12g.51765606G>TCA2575160154SCN8Ac.2545-65G>T (n.2545-65G>T)
c.392-65G>T
c.549-65G>T
n.2673-65G>T
c.2578-65G>T (n.2578-65G>T)
 gnomAD v4
12g.51765607C>ACA947681497SCN8Ac.2545-64C>A (n.2545-64C>A)
c.392-64C>A
c.549-64C>A
n.2673-64C>A
c.2578-64C>A (n.2578-64C>A)
 dbSNP gnomAD v3 gnomAD v4
12g.51765607C=CA2036183704SCN8Ac.2545-64C= (n.2545-64C=)
c.392-64C=
c.549-64C=
n.2673-64C=
c.2578-64C= (n.2578-64C=)
12g.51765607C>TCA236317033SCN8Ac.2545-64C>T (n.2545-64C>T)
c.392-64C>T
c.549-64C>T
n.2673-64C>T
c.2578-64C>T (n.2578-64C>T)
 dbSNP gnomAD v4
12g.51765608C>ACA2575160155SCN8Ac.2545-63C>A (n.2545-63C>A)
c.392-63C>A
c.549-63C>A
n.2673-63C>A
c.2578-63C>A (n.2578-63C>A)
 gnomAD v4
12g.51765608C>TCA2618840636SCN8Ac.2545-63C>T (n.2545-63C>T)
c.392-63C>T
c.549-63C>T
n.2673-63C>T
c.2578-63C>T (n.2578-63C>T)
 gnomAD v4
12g.51765609A=CA2036183710SCN8Ac.2545-62A= (n.2545-62A=)
c.392-62A=
c.549-62A=
n.2673-62A=
c.2578-62A= (n.2578-62A=)
12g.51765609A>GCA236317037SCN8Ac.2545-62A>G (n.2545-62A>G)
c.392-62A>G
c.549-62A>G
n.2673-62A>G
c.2578-62A>G (n.2578-62A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765610T>CCA2575160156SCN8Ac.2545-61T>C (n.2545-61T>C)
c.392-61T>C
c.549-61T>C
n.2673-61T>C
c.2578-61T>C (n.2578-61T>C)
 gnomAD v4
12g.51765610T>GCA2618840637SCN8Ac.2545-61T>G (n.2545-61T>G)
c.392-61T>G
c.549-61T>G
n.2673-61T>G
c.2578-61T>G (n.2578-61T>G)
 gnomAD v4
12g.51765610_51765613delinsTGTGCA2036183715SCN8Ac.2545-61_2545-58delinsTGTG (n.2545-61_2545-58delinsTGTG)
c.392-61_392-58delinsTGTG
c.549-61_549-58delinsTGTG
n.2673-61_2673-58delinsTGTG
c.2578-61_2578-58delinsTGTG (n.2578-61_2578-58delinsTGTG)
12g.51765611G>ACA2575160157SCN8Ac.2545-60G>A (n.2545-60G>A)
c.392-60G>A
c.549-60G>A
n.2673-60G>A
c.2578-60G>A (n.2578-60G>A)
 gnomAD v4
12g.51765614_51765616delCA947681498SCN8Ac.2545-57_2545-55del (n.2545-57_2545-55del)
c.392-57_392-55del
c.549-57_549-55del
n.2673-57_2673-55del
c.2578-57_2578-55del (n.2578-57_2578-55del)
 dbSNP gnomAD v3 gnomAD v4
12g.51765612T>GCA2618840638SCN8Ac.2545-59T>G (n.2545-59T>G)
c.392-59T>G
c.549-59T>G
n.2673-59T>G
c.2578-59T>G (n.2578-59T>G)
 gnomAD v4
12g.51765613G>ACA2618840639SCN8Ac.2545-58G>A (n.2545-58G>A)
c.392-58G>A
c.549-58G>A
n.2673-58G>A
c.2578-58G>A (n.2578-58G>A)
 gnomAD v4
12g.51765613G>TCA2618840640SCN8Ac.2545-58G>T (n.2545-58G>T)
c.392-58G>T
c.549-58G>T
n.2673-58G>T
c.2578-58G>T (n.2578-58G>T)
 gnomAD v4
12g.51765614delCA2575160158SCN8Ac.2545-57del (n.2545-57del)
c.392-57del
c.549-57del
n.2673-57del
c.2578-57del (n.2578-57del)
 gnomAD v4
12g.51765614G>ACA2618840641SCN8Ac.2545-57G>A (n.2545-57G>A)
c.392-57G>A
c.549-57G>A
n.2673-57G>A
c.2578-57G>A (n.2578-57G>A)
 gnomAD v4
12g.51765614G>TCA947681499SCN8Ac.2545-57G>T (n.2545-57G>T)
c.392-57G>T
c.549-57G>T
n.2673-57G>T
c.2578-57G>T (n.2578-57G>T)
 gnomAD v3 gnomAD v4
12g.51765616G>ACA2618840642SCN8Ac.2545-55G>A (n.2545-55G>A)
c.392-55G>A
c.549-55G>A
n.2673-55G>A
c.2578-55G>A (n.2578-55G>A)
 gnomAD v4
12g.51765616G>TCA2618840643SCN8Ac.2545-55G>T (n.2545-55G>T)
c.392-55G>T
c.549-55G>T
n.2673-55G>T
c.2578-55G>T (n.2578-55G>T)
 gnomAD v4
12g.51765617A>TCA2618840644SCN8Ac.2545-54A>T (n.2545-54A>T)
c.392-54A>T
c.549-54A>T
n.2673-54A>T
c.2578-54A>T (n.2578-54A>T)
 gnomAD v4
12g.51765619A>GCA2618840645SCN8Ac.2545-52A>G (n.2545-52A>G)
c.392-52A>G
c.549-52A>G
n.2673-52A>G
c.2578-52A>G (n.2578-52A>G)
 gnomAD v4
12g.51765622A=CA2036183718SCN8Ac.2545-49A= (n.2545-49A=)
c.392-49A=
c.549-49A=
n.2673-49A=
c.2578-49A= (n.2578-49A=)
12g.51765622A>GCA2036183719SCN8Ac.2545-49A>G (n.2545-49A>G)
c.392-49A>G
c.549-49A>G
n.2673-49A>G
c.2578-49A>G (n.2578-49A>G)
 dbSNP gnomAD v4
12g.51765627_51765630delCA2618840646SCN8Ac.2545-44_2545-41del (n.2545-44_2545-41del)
c.392-44_392-41del
c.549-44_549-41del
n.2673-44_2673-41del
c.2578-44_2578-41del (n.2578-44_2578-41del)
 gnomAD v4
12g.51765623T>ACA2618840647SCN8Ac.2545-48T>A (n.2545-48T>A)
c.392-48T>A
c.549-48T>A
n.2673-48T>A
c.2578-48T>A (n.2578-48T>A)
 gnomAD v4
12g.51765624T>ACA2618840648SCN8Ac.2545-47T>A (n.2545-47T>A)
c.392-47T>A
c.549-47T>A
n.2673-47T>A
c.2578-47T>A (n.2578-47T>A)
 gnomAD v4
12g.51765625G>ACA2618840649SCN8Ac.2545-46G>A (n.2545-46G>A)
c.392-46G>A
c.549-46G>A
n.2673-46G>A
c.2578-46G>A (n.2578-46G>A)
 gnomAD v4
12g.51765625G>TCA2618840650SCN8Ac.2545-46G>T (n.2545-46G>T)
c.392-46G>T
c.549-46G>T
n.2673-46G>T
c.2578-46G>T (n.2578-46G>T)
 gnomAD v4
12g.51765626A>GCA2520952885SCN8Ac.2545-45A>G (n.2545-45A>G)
c.392-45A>G
c.549-45A>G
n.2673-45A>G
c.2578-45A>G (n.2578-45A>G)
12g.51765627T>ACA2618840651SCN8Ac.2545-44T>A (n.2545-44T>A)
c.392-44T>A
c.549-44T>A
n.2673-44T>A
c.2578-44T>A (n.2578-44T>A)
 gnomAD v4
12g.51765627T>CCA236317049SCN8Ac.2545-44T>C (n.2545-44T>C)
c.392-44T>C
c.549-44T>C
n.2673-44T>C
c.2578-44T>C (n.2578-44T>C)
 dbSNP gnomAD v4
12g.51765627T=CA2036183723SCN8Ac.2545-44T= (n.2545-44T=)
c.392-44T=
c.549-44T=
n.2673-44T=
c.2578-44T= (n.2578-44T=)
12g.51765627_51765628insCTCA2741254165SCN8Ac.2545-44_2545-43insCT (n.2545-44_2545-43insCT)
c.392-44_392-43insCT
c.549-44_549-43insCT
n.2673-44_2673-43insCT
c.2578-44_2578-43insCT (n.2578-44_2578-43insCT)
12g.51765627_51765631delinsTTGAGCA2036183721SCN8Ac.2545-44_2545-40delinsTTGAG (n.2545-44_2545-40delinsTTGAG)
c.392-44_392-40delinsTTGAG
c.549-44_549-40delinsTTGAG
n.2673-44_2673-40delinsTTGAG
c.2578-44_2578-40delinsTTGAG (n.2578-44_2578-40delinsTTGAG)
12g.51765628T>ACA2618840652SCN8Ac.2545-43T>A (n.2545-43T>A)
c.392-43T>A
c.549-43T>A
n.2673-43T>A
c.2578-43T>A (n.2578-43T>A)
 gnomAD v4
12g.51765628T>CCA605238503SCN8Ac.2545-43T>C (n.2545-43T>C)
c.392-43T>C
c.549-43T>C
n.2673-43T>C
c.2578-43T>C (n.2578-43T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51765628T=CA2036183728SCN8Ac.2545-43T= (n.2545-43T=)
c.392-43T=
c.549-43T=
n.2673-43T=
c.2578-43T= (n.2578-43T=)
12g.51765629_51765632delCA6571489SCN8Ac.2545-42_2545-39del (n.2545-42_2545-39del)
c.392-42_392-39del
c.549-42_549-39del
n.2673-42_2673-39del
c.2578-42_2578-39del (n.2578-42_2578-39del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51765629G>TCA2618840653SCN8Ac.2545-42G>T (n.2545-42G>T)
c.392-42G>T
c.549-42G>T
n.2673-42G>T
c.2578-42G>T (n.2578-42G>T)
 gnomAD v4
12g.51765630A>GCA2575160159SCN8Ac.2545-41A>G (n.2545-41A>G)
c.392-41A>G
c.549-41A>G
n.2673-41A>G
c.2578-41A>G (n.2578-41A>G)
 gnomAD v4
12g.51765630A>TCA2618840654SCN8Ac.2545-41A>T (n.2545-41A>T)
c.392-41A>T
c.549-41A>T
n.2673-41A>T
c.2578-41A>T (n.2578-41A>T)
 gnomAD v4
12g.51765631G>ACA2618840655SCN8Ac.2545-40G>A (n.2545-40G>A)
c.392-40G>A
c.549-40G>A
n.2673-40G>A
c.2578-40G>A (n.2578-40G>A)
 gnomAD v4
12g.51765631G>TCA2618840656SCN8Ac.2545-40G>T (n.2545-40G>T)
c.392-40G>T
c.549-40G>T
n.2673-40G>T
c.2578-40G>T (n.2578-40G>T)
 gnomAD v4
12g.51765632T>ACA236317059SCN8Ac.2545-39T>A (n.2545-39T>A)
c.392-39T>A
c.549-39T>A
n.2673-39T>A
c.2578-39T>A (n.2578-39T>A)
 dbSNP
12g.51765632T>GCA2618840657SCN8Ac.2545-39T>G (n.2545-39T>G)
c.392-39T>G
c.549-39T>G
n.2673-39T>G
c.2578-39T>G (n.2578-39T>G)
 gnomAD v4
12g.51765632T=CA2036183732SCN8Ac.2545-39T= (n.2545-39T=)
c.392-39T=
c.549-39T=
n.2673-39T=
c.2578-39T= (n.2578-39T=)
12g.51765633A>CCA2618840658SCN8Ac.2545-38A>C (n.2545-38A>C)
c.392-38A>C
c.549-38A>C
n.2673-38A>C
c.2578-38A>C (n.2578-38A>C)
 gnomAD v4
12g.51765633A>GCA2575160160SCN8Ac.2545-38A>G (n.2545-38A>G)
c.392-38A>G
c.549-38A>G
n.2673-38A>G
c.2578-38A>G (n.2578-38A>G)
 gnomAD v4
12g.51765634T>GCA2618840659SCN8Ac.2545-37T>G (n.2545-37T>G)
c.392-37T>G
c.549-37T>G
n.2673-37T>G
c.2578-37T>G (n.2578-37T>G)
 gnomAD v4
12g.51765635C>ACA947681500SCN8Ac.2545-36C>A (n.2545-36C>A)
c.392-36C>A
c.549-36C>A
n.2673-36C>A
c.2578-36C>A (n.2578-36C>A)
 dbSNP gnomAD v3 gnomAD v4
12g.51765635C=CA2036183736SCN8Ac.2545-36C= (n.2545-36C=)
c.392-36C=
c.549-36C=
n.2673-36C=
c.2578-36C= (n.2578-36C=)
12g.51765635C>TCA2618840660SCN8Ac.2545-36C>T (n.2545-36C>T)
c.392-36C>T
c.549-36C>T
n.2673-36C>T
c.2578-36C>T (n.2578-36C>T)
 gnomAD v4
12g.51765636A>GCA2618840661SCN8Ac.2545-35A>G (n.2545-35A>G)
c.392-35A>G
c.549-35A>G
n.2673-35A>G
c.2578-35A>G (n.2578-35A>G)
 gnomAD v4
12g.51765636A>TCA947681501SCN8Ac.2545-35A>T (n.2545-35A>T)
c.392-35A>T
c.549-35A>T
n.2673-35A>T
c.2578-35A>T (n.2578-35A>T)
 gnomAD v3 gnomAD v4
12g.51765637T>CCA236317061SCN8Ac.2545-34T>C (n.2545-34T>C)
c.392-34T>C
c.549-34T>C
n.2673-34T>C
c.2578-34T>C (n.2578-34T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51765637T>GCA2618840662SCN8Ac.2545-34T>G (n.2545-34T>G)
c.392-34T>G
c.549-34T>G
n.2673-34T>G
c.2578-34T>G (n.2578-34T>G)
 gnomAD v4
12g.51765637T=CA2036183739SCN8Ac.2545-34T= (n.2545-34T=)
c.392-34T=
c.549-34T=
n.2673-34T=
c.2578-34T= (n.2578-34T=)
12g.51765638T>GCA2618840663SCN8Ac.2545-33T>G (n.2545-33T>G)
c.392-33T>G
c.549-33T>G
n.2673-33T>G
c.2578-33T>G (n.2578-33T>G)
 gnomAD v4
12g.51765639T>ACA2618840664SCN8Ac.2545-32T>A (n.2545-32T>A)
c.392-32T>A
c.549-32T>A
n.2673-32T>A
c.2578-32T>A (n.2578-32T>A)
 gnomAD v4
12g.51765639T>CCA2618840665SCN8Ac.2545-32T>C (n.2545-32T>C)
c.392-32T>C
c.549-32T>C
n.2673-32T>C
c.2578-32T>C (n.2578-32T>C)
 gnomAD v4
12g.51765640delCA2618840667SCN8Ac.2545-31del (n.2545-31del)
c.392-31del
c.549-31del
n.2673-31del
c.2578-31del (n.2578-31del)
 gnomAD v4
12g.51765640A=CA2036183744SCN8Ac.2545-31A= (n.2545-31A=)
c.392-31A=
c.549-31A=
n.2673-31A=
c.2578-31A= (n.2578-31A=)
12g.51765640A>CCA2618840668SCN8Ac.2545-31A>C (n.2545-31A>C)
c.392-31A>C
c.549-31A>C
n.2673-31A>C
c.2578-31A>C (n.2578-31A>C)
 gnomAD v4
12g.51765640A>GCA6571490SCN8Ac.2545-31A>G (n.2545-31A>G)
c.392-31A>G
c.549-31A>G
n.2673-31A>G
c.2578-31A>G (n.2578-31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51765640A>TCA947681505SCN8Ac.2545-31A>T (n.2545-31A>T)
c.392-31A>T
c.549-31A>T
n.2673-31A>T
c.2578-31A>T (n.2578-31A>T)
 gnomAD v3 gnomAD v4
12g.51765640dupCA2618840666SCN8Ac.2545-31dup (n.2545-31dup)
c.392-31dup
c.549-31dup
n.2673-31dup
c.2578-31dup (n.2578-31dup)
 gnomAD v4
12g.51765640_51765641delinsATCA2036183746SCN8Ac.2545-31_2545-30delinsAT (n.2545-31_2545-30delinsAT)
c.392-31_392-30delinsAT
c.549-31_549-30delinsAT
n.2673-31_2673-30delinsAT
c.2578-31_2578-30delinsAT (n.2578-31_2578-30delinsAT)
12g.51765647dupCA2618840669SCN8Ac.2545-24dup (n.2545-24dup)
c.392-24dup
c.549-24dup
n.2673-24dup
c.2578-24dup (n.2578-24dup)
 gnomAD v4
12g.51765647delCA605238504SCN8Ac.2545-24del (n.2545-24del)
c.392-24del
c.549-24del
n.2673-24del
c.2578-24del (n.2578-24del)
 dbSNP gnomAD v2 gnomAD v4
12g.51765642T>ACA2618840671SCN8Ac.2545-29T>A (n.2545-29T>A)
c.392-29T>A
c.549-29T>A
n.2673-29T>A
c.2578-29T>A (n.2578-29T>A)
 gnomAD v4
12g.51765642T>CCA689780219SCN8Ac.2545-29T>C (n.2545-29T>C)
c.392-29T>C
c.549-29T>C
n.2673-29T>C
c.2578-29T>C (n.2578-29T>C)
 dbSNP gnomAD v4
12g.51765642T>GCA2618840670SCN8Ac.2545-29T>G (n.2545-29T>G)
c.392-29T>G
c.549-29T>G
n.2673-29T>G
c.2578-29T>G (n.2578-29T>G)
 gnomAD v4
12g.51765642T=CA2036183753SCN8Ac.2545-29T= (n.2545-29T=)
c.392-29T=
c.549-29T=
n.2673-29T=
c.2578-29T= (n.2578-29T=)
12g.51765643T>GCA2618840672SCN8Ac.2545-28T>G (n.2545-28T>G)
c.392-28T>G
c.549-28T>G
n.2673-28T>G
c.2578-28T>G (n.2578-28T>G)
 gnomAD v4
12g.51765644T>ACA236317069SCN8Ac.2545-27T>A (n.2545-27T>A)
c.392-27T>A
c.549-27T>A
n.2673-27T>A
c.2578-27T>A (n.2578-27T>A)
 dbSNP
12g.51765644T>GCA2618840673SCN8Ac.2545-27T>G (n.2545-27T>G)
c.392-27T>G
c.549-27T>G
n.2673-27T>G
c.2578-27T>G (n.2578-27T>G)
 gnomAD v4
12g.51765644T=CA2036183755SCN8Ac.2545-27T= (n.2545-27T=)
c.392-27T=
c.549-27T=
n.2673-27T=
c.2578-27T= (n.2578-27T=)
12g.51765645T>GCA2618840674SCN8Ac.2545-26T>G (n.2545-26T>G)
c.392-26T>G
c.549-26T>G
n.2673-26T>G
c.2578-26T>G (n.2578-26T>G)
 gnomAD v4
12g.51765646T>GCA2618840675SCN8Ac.2545-25T>G (n.2545-25T>G)
c.392-25T>G
c.549-25T>G
n.2673-25T>G
c.2578-25T>G (n.2578-25T>G)
 gnomAD v4
12g.51765648delCA2618840676SCN8Ac.2545-23del (n.2545-23del)
c.392-23del
c.549-23del
n.2673-23del
c.2578-23del (n.2578-23del)
 gnomAD v4
12g.51765648G>TCA947681506SCN8Ac.2545-23G>T (n.2545-23G>T)
c.392-23G>T
c.549-23G>T
n.2673-23G>T
c.2578-23G>T (n.2578-23G>T)
 gnomAD v3 gnomAD v4
12g.51765648_51765654delCA2618840677SCN8Ac.2545-23_2545-17del (n.2545-23_2545-17del)
c.392-23_392-17del
c.549-23_549-17del
n.2673-23_2673-17del
c.2578-23_2578-17del (n.2578-23_2578-17del)
 gnomAD v4
12g.51765649T>GCA2618840679SCN8Ac.2545-22T>G (n.2545-22T>G)
c.392-22T>G
c.549-22T>G
n.2673-22T>G
c.2578-22T>G (n.2578-22T>G)
 gnomAD v4
12g.51765651dupCA2618840678SCN8Ac.2545-20dup (n.2545-20dup)
c.392-20dup
c.549-20dup
n.2673-20dup
c.2578-20dup (n.2578-20dup)
 gnomAD v4
12g.51765650T>GCA2618840680SCN8Ac.2545-21T>G (n.2545-21T>G)
c.392-21T>G
c.549-21T>G
n.2673-21T>G
c.2578-21T>G (n.2578-21T>G)
 gnomAD v4
12g.51765651T>CCA6571491SCN8Ac.2545-20T>C (n.2545-20T>C)
c.392-20T>C
c.549-20T>C
n.2673-20T>C
c.2578-20T>C (n.2578-20T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51765651T>GCA654739962SCN8Ac.2545-20T>G (n.2545-20T>G)
c.392-20T>G
c.549-20T>G
n.2673-20T>G
c.2578-20T>G (n.2578-20T>G)
 gnomAD v4
12g.51765651T=CA2036183760SCN8Ac.2545-20T= (n.2545-20T=)
c.392-20T=
c.549-20T=
n.2673-20T=
c.2578-20T= (n.2578-20T=)
12g.51765652G>TCA2618840682SCN8Ac.2545-19G>T (n.2545-19G>T)
c.392-19G>T
c.549-19G>T
n.2673-19G>T
c.2578-19G>T (n.2578-19G>T)
 gnomAD v4
12g.51765654dupCA2618840681SCN8Ac.2545-17dup (n.2545-17dup)
c.392-17dup
c.549-17dup
n.2673-17dup
c.2578-17dup (n.2578-17dup)
 gnomAD v4
12g.51765652_51765653insCCA2580086411SCN8Ac.2545-19_2545-18insC (n.2545-19_2545-18insC)
c.392-19_392-18insC
c.549-19_549-18insC
n.2673-19_2673-18insC
c.2578-19_2578-18insC (n.2578-19_2578-18insC)
 ClinVar
12g.51765652_51765653insTCA2618840683SCN8Ac.2545-19_2545-18insT (n.2545-19_2545-18insT)
c.392-19_392-18insT
c.549-19_549-18insT
n.2673-19_2673-18insT
c.2578-19_2578-18insT (n.2578-19_2578-18insT)
 gnomAD v4
12g.51765653G=CA2036183764SCN8Ac.2545-18G= (n.2545-18G=)
c.392-18G=
c.549-18G=
n.2673-18G=
c.2578-18G= (n.2578-18G=)
12g.51765653G>TCA2618840684SCN8Ac.2545-18G>T (n.2545-18G>T)
c.392-18G>T
c.549-18G>T
n.2673-18G>T
c.2578-18G>T (n.2578-18G>T)
 gnomAD v4
12g.51765653_51765654insACA2036183769SCN8Ac.2545-18_2545-17insA (n.2545-18_2545-17insA)
c.392-18_392-17insA
c.549-18_549-17insA
n.2673-18_2673-17insA
c.2578-18_2578-17insA (n.2578-18_2578-17insA)
 dbSNP
12g.51765653_51765654insTCA947681508SCN8Ac.2545-18_2545-17insT (n.2545-18_2545-17insT)
c.392-18_392-17insT
c.549-18_549-17insT
n.2673-18_2673-17insT
c.2578-18_2578-17insT (n.2578-18_2578-17insT)
 dbSNP gnomAD v3 gnomAD v4
12g.51765653_51765654insTTCA2618840685SCN8Ac.2545-18_2545-17insTT (n.2545-18_2545-17insTT)
c.392-18_392-17insTT
c.549-18_549-17insTT
n.2673-18_2673-17insTT
c.2578-18_2578-17insTT (n.2578-18_2578-17insTT)
 gnomAD v4
12g.51765654G>ACA2795979518SCN8Ac.2545-17G>A (n.2545-17G>A)
c.392-17G>A
c.549-17G>A
n.2673-17G>A
c.2578-17G>A (n.2578-17G>A)
12g.51765654G=CA2036183772SCN8Ac.2545-17G= (n.2545-17G=)
c.392-17G=
c.549-17G=
n.2673-17G=
c.2578-17G= (n.2578-17G=)
12g.51765654G>TCA689780235SCN8Ac.2545-17G>T (n.2545-17G>T)
c.392-17G>T
c.549-17G>T
n.2673-17G>T
c.2578-17G>T (n.2578-17G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51765654_51765655delinsGTCA2036183770SCN8Ac.2545-17_2545-16delinsGT (n.2545-17_2545-16delinsGT)
c.392-17_392-16delinsGT
c.549-17_549-16delinsGT
n.2673-17_2673-16delinsGT
c.2578-17_2578-16delinsGT (n.2578-17_2578-16delinsGT)
12g.51765654_51765655insACA2618840686SCN8Ac.2545-17_2545-16insA (n.2545-17_2545-16insA)
c.392-17_392-16insA
c.549-17_549-16insA
n.2673-17_2673-16insA
c.2578-17_2578-16insA (n.2578-17_2578-16insA)
 gnomAD v4
12g.51765654_51765655insCCA919088046SCN8Ac.2545-17_2545-16insC (n.2545-17_2545-16insC)
c.392-17_392-16insC
c.549-17_549-16insC
n.2673-17_2673-16insC
c.2578-17_2578-16insC (n.2578-17_2578-16insC)
 dbSNP gnomAD v4
12g.51765654_51765655insATCA2618840695SCN8Ac.2545-17_2545-16insAT (n.2545-17_2545-16insAT)
c.392-17_392-16insAT
c.549-17_549-16insAT
n.2673-17_2673-16insAT
c.2578-17_2578-16insAT (n.2578-17_2578-16insAT)
 gnomAD v4
12g.51765654_51765655insCTCA2618840696SCN8Ac.2545-17_2545-16insCT (n.2545-17_2545-16insCT)
c.392-17_392-16insCT
c.549-17_549-16insCT
n.2673-17_2673-16insCT
c.2578-17_2578-16insCT (n.2578-17_2578-16insCT)
 gnomAD v4
12g.51765654_51765655insGTCA2575160161SCN8Ac.2545-17_2545-16insGT (n.2545-17_2545-16insGT)
c.392-17_392-16insGT
c.549-17_549-16insGT
n.2673-17_2673-16insGT
c.2578-17_2578-16insGT (n.2578-17_2578-16insGT)
 gnomAD v4
12g.51765655T>CCA2618840687SCN8Ac.2545-16T>C (n.2545-16T>C)
c.392-16T>C
c.549-16T>C
n.2673-16T>C
c.2578-16T>C (n.2578-16T>C)
 gnomAD v4
12g.51765655T=CA2036183784SCN8Ac.2545-16T= (n.2545-16T=)
c.392-16T=
c.549-16T=
n.2673-16T=
c.2578-16T= (n.2578-16T=)
12g.51765655_51765656insGTTCA2618840694SCN8Ac.2545-16_2545-15insGTT (n.2545-16_2545-15insGTT)
c.392-16_392-15insGTT
c.549-16_549-15insGTT
n.2673-16_2673-15insGTT
c.2578-16_2578-15insGTT (n.2578-16_2578-15insGTT)
 gnomAD v4
12g.51765664_51765665insTTTTTTTTTTTCA689780251SCN8Ac.2545-7_2545-6insTTTTTTTTTTT (n.2545-7_2545-6insTTTTTTTTTTT)
c.392-7_392-6insTTTTTTTTTTT
c.549-7_549-6insTTTTTTTTTTT
n.2673-7_2673-6insTTTTTTTTTTT
c.2578-7_2578-6insTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTT)
 dbSNP gnomAD v4
12g.51765664_51765665insTTTTTTTTTTTTCA2618840692SCN8Ac.2545-7_2545-6insTTTTTTTTTTTT (n.2545-7_2545-6insTTTTTTTTTTTT)
c.392-7_392-6insTTTTTTTTTTTT
c.549-7_549-6insTTTTTTTTTTTT
n.2673-7_2673-6insTTTTTTTTTTTT
c.2578-7_2578-6insTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTT)
 gnomAD v4
12g.51765664_51765665insTTTTTTTTTTTTTCA2618840691SCN8Ac.2545-7_2545-6insTTTTTTTTTTTTT (n.2545-7_2545-6insTTTTTTTTTTTTT)
c.392-7_392-6insTTTTTTTTTTTTT
c.549-7_549-6insTTTTTTTTTTTTT
n.2673-7_2673-6insTTTTTTTTTTTTT
c.2578-7_2578-6insTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTT)
 gnomAD v4
12g.51765664_51765665insTTTTTTTTTTTTTTTCA2618840690SCN8Ac.2545-7_2545-6insTTTTTTTTTTTTTTT (n.2545-7_2545-6insTTTTTTTTTTTTTTT)
c.392-7_392-6insTTTTTTTTTTTTTTT
c.549-7_549-6insTTTTTTTTTTTTTTT
n.2673-7_2673-6insTTTTTTTTTTTTTTT
c.2578-7_2578-6insTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTT)
 gnomAD v4
12g.51765664_51765665insTTTTTTTTTTTTTTTTCA2618840689SCN8Ac.2545-7_2545-6insTTTTTTTTTTTTTTTT (n.2545-7_2545-6insTTTTTTTTTTTTTTTT)
c.392-7_392-6insTTTTTTTTTTTTTTTT
c.549-7_549-6insTTTTTTTTTTTTTTTT
n.2673-7_2673-6insTTTTTTTTTTTTTTTT
c.2578-7_2578-6insTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTT)
 gnomAD v4
12g.51765664_51765665insTTTTTTTTTTTTTTTTTTCA2618840688SCN8Ac.2545-7_2545-6insTTTTTTTTTTTTTTTTTT (n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT)
c.392-7_392-6insTTTTTTTTTTTTTTTTTT
c.549-7_549-6insTTTTTTTTTTTTTTTTTT
n.2673-7_2673-6insTTTTTTTTTTTTTTTTTT
c.2578-7_2578-6insTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTT)
 gnomAD v4
12g.51765664dupCA6571492SCN8Ac.2545-7dup (n.2545-7dup)
c.392-7dup
c.549-7dup
n.2673-7dup
c.2578-7dup (n.2578-7dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51765663_51765664dupCA6571493SCN8Ac.2545-8_2545-7dup (n.2545-8_2545-7dup)
c.392-8_392-7dup
c.549-8_549-7dup
n.2673-8_2673-7dup
c.2578-8_2578-7dup (n.2578-8_2578-7dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51765662_51765664dupCA6571495SCN8Ac.2545-9_2545-7dup (n.2545-9_2545-7dup)
c.392-9_392-7dup
c.549-9_549-7dup
n.2673-9_2673-7dup
c.2578-9_2578-7dup (n.2578-9_2578-7dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51765661_51765664dupCA605238505SCN8Ac.2545-10_2545-7dup (n.2545-10_2545-7dup)
c.392-10_392-7dup
c.549-10_549-7dup
n.2673-10_2673-7dup
c.2578-10_2578-7dup (n.2578-10_2578-7dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765660_51765664dupCA605238506SCN8Ac.2545-11_2545-7dup (n.2545-11_2545-7dup)
c.392-11_392-7dup
c.549-11_549-7dup
n.2673-11_2673-7dup
c.2578-11_2578-7dup (n.2578-11_2578-7dup)
 dbSNP gnomAD v2 gnomAD v4
12g.51765659_51765664dupCA2618840698SCN8Ac.2545-12_2545-7dup (n.2545-12_2545-7dup)
c.392-12_392-7dup
c.549-12_549-7dup
n.2673-12_2673-7dup
c.2578-12_2578-7dup (n.2578-12_2578-7dup)
 gnomAD v4
12g.51765658_51765664dupCA919088040SCN8Ac.2545-13_2545-7dup (n.2545-13_2545-7dup)
c.392-13_392-7dup
c.549-13_549-7dup
n.2673-13_2673-7dup
c.2578-13_2578-7dup (n.2578-13_2578-7dup)
 dbSNP gnomAD v3 gnomAD v4
12g.51765657_51765664dupCA2618840697SCN8Ac.2545-14_2545-7dup (n.2545-14_2545-7dup)
c.392-14_392-7dup
c.549-14_549-7dup
n.2673-14_2673-7dup
c.2578-14_2578-7dup (n.2578-14_2578-7dup)
 gnomAD v4
12g.51765656_51765664dupCA2618840693SCN8Ac.2545-15_2545-7dup (n.2545-15_2545-7dup)
c.392-15_392-7dup
c.549-15_549-7dup
n.2673-15_2673-7dup
c.2578-15_2578-7dup (n.2578-15_2578-7dup)
 gnomAD v4
12g.51765655_51765664dupCA689780246SCN8Ac.2545-16_2545-7dup (n.2545-16_2545-7dup)
c.392-16_392-7dup
c.549-16_549-7dup
n.2673-16_2673-7dup
c.2578-16_2578-7dup (n.2578-16_2578-7dup)
 dbSNP gnomAD v4
12g.51765664delCA6571494SCN8Ac.2545-7del (n.2545-7del)
c.392-7del
c.549-7del
n.2673-7del
c.2578-7del (n.2578-7del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51765663_51765664delCA2575160162SCN8Ac.2545-8_2545-7del (n.2545-8_2545-7del)
c.392-8_392-7del
c.549-8_549-7del
n.2673-8_2673-7del
c.2578-8_2578-7del (n.2578-8_2578-7del)
 gnomAD v4
12g.51765655_51765656insACA605238507SCN8Ac.2545-16_2545-15insA (n.2545-16_2545-15insA)
c.392-16_392-15insA
c.549-16_549-15insA
n.2673-16_2673-15insA
c.2578-16_2578-15insA (n.2578-16_2578-15insA)
 dbSNP gnomAD v2 gnomAD v4
12g.51765656T>ACA2618840699SCN8Ac.2545-15T>A (n.2545-15T>A)
c.392-15T>A
c.549-15T>A
n.2673-15T>A
c.2578-15T>A (n.2578-15T>A)
 gnomAD v4
12g.51765656_51765657insACA2618840700SCN8Ac.2545-15_2545-14insA (n.2545-15_2545-14insA)
c.392-15_392-14insA
c.549-15_549-14insA
n.2673-15_2673-14insA
c.2578-15_2578-14insA (n.2578-15_2578-14insA)
 gnomAD v4
12g.51765657_51765658insCCA2618840701SCN8Ac.2545-14_2545-13insC (n.2545-14_2545-13insC)
c.392-14_392-13insC
c.549-14_549-13insC
n.2673-14_2673-13insC
c.2578-14_2578-13insC (n.2578-14_2578-13insC)
 gnomAD v4
12g.51765658T>GCA2575160163SCN8Ac.2545-13T>G (n.2545-13T>G)
c.392-13T>G
c.549-13T>G
n.2673-13T>G
c.2578-13T>G (n.2578-13T>G)
12g.51765659T>CCA2618840702SCN8Ac.2545-12T>C (n.2545-12T>C)
c.392-12T>C
c.549-12T>C
n.2673-12T>C
c.2578-12T>C (n.2578-12T>C)
 gnomAD v4
12g.51765659_51765660insACA2575160164SCN8Ac.2545-12_2545-11insA (n.2545-12_2545-11insA)
c.392-12_392-11insA
c.549-12_549-11insA
n.2673-12_2673-11insA
c.2578-12_2578-11insA (n.2578-12_2578-11insA)
 ClinVar gnomAD v4
12g.51765659_51765660insCCA2618840703SCN8Ac.2545-12_2545-11insC (n.2545-12_2545-11insC)
c.392-12_392-11insC
c.549-12_549-11insC
n.2673-12_2673-11insC
c.2578-12_2578-11insC (n.2578-12_2578-11insC)
 gnomAD v4
12g.51765660T>CCA2575160165SCN8Ac.2545-11T>C (n.2545-11T>C)
c.392-11T>C
c.549-11T>C
n.2673-11T>C
c.2578-11T>C (n.2578-11T>C)
12g.51765661T>ACA2618840704SCN8Ac.2545-10T>A (n.2545-10T>A)
c.392-10T>A
c.549-10T>A
n.2673-10T>A
c.2578-10T>A (n.2578-10T>A)
 gnomAD v4
12g.51765664_51765665insTTCTTTCA2618840705SCN8Ac.2545-7_2545-6insTTCTTT (n.2545-7_2545-6insTTCTTT)
c.392-7_392-6insTTCTTT
c.549-7_549-6insTTCTTT
n.2673-7_2673-6insTTCTTT
c.2578-7_2578-6insTTCTTT (n.2578-7_2578-6insTTCTTT)
 gnomAD v4
12g.51765662_51765663insCCA2618840706SCN8Ac.2545-9_2545-8insC (n.2545-9_2545-8insC)
c.392-9_392-8insC
c.549-9_549-8insC
n.2673-9_2673-8insC
c.2578-9_2578-8insC (n.2578-9_2578-8insC)
 gnomAD v4
12g.51765663T=CA2036183798SCN8Ac.2545-8T= (n.2545-8T=)
c.392-8T=
c.549-8T=
n.2673-8T=
c.2578-8T= (n.2578-8T=)
12g.51765663_51765664insCCA6571496SCN8Ac.2545-8_2545-7insC (n.2545-8_2545-7insC)
c.392-8_392-7insC
c.549-8_549-7insC
n.2673-8_2673-7insC
c.2578-8_2578-7insC (n.2578-8_2578-7insC)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51765664T=CA2036183804SCN8Ac.2545-7T= (n.2545-7T=)
c.392-7T=
c.549-7T=
n.2673-7T=
c.2578-7T= (n.2578-7T=)
12g.51765664_51765665insTCCTTAGCTCA2618840707SCN8Ac.2545-7_2545-6insTCCTTAGCT (n.2545-7_2545-6insTCCTTAGCT)
c.392-7_392-6insTCCTTAGCT
c.549-7_549-6insTCCTTAGCT
n.2673-7_2673-6insTCCTTAGCT
c.2578-7_2578-6insTCCTTAGCT (n.2578-7_2578-6insTCCTTAGCT)
 gnomAD v4
12g.51765664_51765666delinsTCCCA2036183808SCN8Ac.2545-7_2545-5delinsTCC (n.2545-7_2545-5delinsTCC)
c.392-7_392-5delinsTCC
c.549-7_549-5delinsTCC
n.2673-7_2673-5delinsTCC
c.2578-7_2578-5delinsTCC (n.2578-7_2578-5delinsTCC)
12g.51765664_51765665insGCA6571497SCN8Ac.2545-7_2545-6insG (n.2545-7_2545-6insG)
c.392-7_392-6insG
c.549-7_549-6insG
n.2673-7_2673-6insG
c.2578-7_2578-6insG (n.2578-7_2578-6insG)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51765664_51765665insTTCTTAGCA2618840712SCN8Ac.2545-7_2545-6insTTCTTAG (n.2545-7_2545-6insTTCTTAG)
c.392-7_392-6insTTCTTAG
c.549-7_549-6insTTCTTAG
n.2673-7_2673-6insTTCTTAG
c.2578-7_2578-6insTTCTTAG (n.2578-7_2578-6insTTCTTAG)
 gnomAD v4
12g.51765664_51765665insTTCTTAGCTCCA2618840711SCN8Ac.2545-7_2545-6insTTCTTAGCTC (n.2545-7_2545-6insTTCTTAGCTC)
c.392-7_392-6insTTCTTAGCTC
c.549-7_549-6insTTCTTAGCTC
n.2673-7_2673-6insTTCTTAGCTC
c.2578-7_2578-6insTTCTTAGCTC (n.2578-7_2578-6insTTCTTAGCTC)
 gnomAD v4
12g.51765664_51765665insTTCCTTAGCTCCA2618840713SCN8Ac.2545-7_2545-6insTTCCTTAGCTC (n.2545-7_2545-6insTTCCTTAGCTC)
c.392-7_392-6insTTCCTTAGCTC
c.549-7_549-6insTTCCTTAGCTC
n.2673-7_2673-6insTTCCTTAGCTC
c.2578-7_2578-6insTTCCTTAGCTC (n.2578-7_2578-6insTTCCTTAGCTC)
 gnomAD v4
12g.51765665C>ACA2618840709SCN8Ac.2545-6C>A (n.2545-6C>A)
c.392-6C>A
c.549-6C>A
n.2673-6C>A
c.2578-6C>A (n.2578-6C>A)
 dbSNP gnomAD v4
12g.51765665C=CA2036183816SCN8Ac.2545-6C= (n.2545-6C=)
c.392-6C=
c.549-6C=
n.2673-6C=
c.2578-6C= (n.2578-6C=)
12g.51765665C>GCA2618840708SCN8Ac.2545-6C>G (n.2545-6C>G)
c.392-6C>G
c.549-6C>G
n.2673-6C>G
c.2578-6C>G (n.2578-6C>G)
 gnomAD v4
12g.51765665C>TCA16602214SCN8Ac.2545-6C>T (n.2545-6C>T)
c.392-6C>T
c.549-6C>T
n.2673-6C>T
c.2578-6C>T (n.2578-6C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765665_51765666delCA605238510SCN8Ac.2545-6_2545-5del (n.2545-6_2545-5del)
c.392-6_392-5del
c.549-6_549-5del
n.2673-6_2673-5del
c.2578-6_2578-5del (n.2578-6_2578-5del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765666dupCA605238509SCN8Ac.2545-5dup (n.2545-5dup)
c.392-5dup
c.549-5dup
n.2673-5dup
c.2578-5dup (n.2578-5dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765666delCA2618840710SCN8Ac.2545-5del (n.2545-5del)
c.392-5del
c.549-5del
n.2673-5del
c.2578-5del (n.2578-5del)
 gnomAD v4
12g.51765665_51765666insTTAGCA2795979519SCN8Ac.2545-6_2545-5insTTAG (n.2545-6_2545-5insTTAG)
c.392-6_392-5insTTAG
c.549-6_549-5insTTAG
n.2673-6_2673-5insTTAG
c.2578-6_2578-5insTTAG (n.2578-6_2578-5insTTAG)
12g.51765665_51765666insTTTTCA2795979520SCN8Ac.2545-6_2545-5insTTTT (n.2545-6_2545-5insTTTT)
c.392-6_392-5insTTTT
c.549-6_549-5insTTTT
n.2673-6_2673-5insTTTT
c.2578-6_2578-5insTTTT (n.2578-6_2578-5insTTTT)
12g.51765666C>ACA2618840714SCN8Ac.2545-5C>A (n.2545-5C>A)
c.392-5C>A
c.549-5C>A
n.2673-5C>A
c.2578-5C>A (n.2578-5C>A)
 gnomAD v4
12g.51765666C=CA2036183831SCN8Ac.2545-5C= (n.2545-5C=)
c.392-5C=
c.549-5C=
n.2673-5C=
c.2578-5C= (n.2578-5C=)
12g.51765666C>GCA916083313SCN8Ac.2545-5C>G (n.2545-5C>G)
c.392-5C>G
c.549-5C>G
n.2673-5C>G
c.2578-5C>G (n.2578-5C>G)
 ClinVar dbSNP
12g.51765666C>TCA605238512SCN8Ac.2545-5C>T (n.2545-5C>T)
c.392-5C>T
c.549-5C>T
n.2673-5C>T
c.2578-5C>T (n.2578-5C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765667T>ACA2036183844SCN8Ac.2545-4T>A (n.2545-4T>A)
c.392-4T>A
c.549-4T>A
n.2673-4T>A
c.2578-4T>A (n.2578-4T>A)
 dbSNP gnomAD v4
12g.51765667T>CCA2618840715SCN8Ac.2545-4T>C (n.2545-4T>C)
c.392-4T>C
c.549-4T>C
n.2673-4T>C
c.2578-4T>C (n.2578-4T>C)
 gnomAD v4
12g.51765667T>GCA605238518SCN8Ac.2545-4T>G (n.2545-4T>G)
c.392-4T>G
c.549-4T>G
n.2673-4T>G
c.2578-4T>G (n.2578-4T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765667T=CA2036183842SCN8Ac.2545-4T= (n.2545-4T=)
c.392-4T=
c.549-4T=
n.2673-4T=
c.2578-4T= (n.2578-4T=)
12g.51765668_51765669insTTTCA605238514SCN8Ac.2545-3_2545-2insTTT (n.2545-3_2545-2insTTT)
c.392-3_392-2insTTT
c.549-3_549-2insTTT
n.2673-3_2673-2insTTT
c.2578-3_2578-2insTTT (n.2578-3_2578-2insTTT)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765668_51765669insTTTTCA605238517SCN8Ac.2545-3_2545-2insTTTT (n.2545-3_2545-2insTTTT)
c.392-3_392-2insTTTT
c.549-3_549-2insTTTT
n.2673-3_2673-2insTTTT
c.2578-3_2578-2insTTTT (n.2578-3_2578-2insTTTT)
 dbSNP gnomAD v2
12g.51765669A=CA2036183850SCN8Ac.2545-2A= (n.2545-2A=)
c.392-2A=
c.549-2A=
n.2673-2A=
c.2578-2A= (n.2578-2A=)
12g.51765669A>CCA384886373SCN8Ac.2545-2A>C (n.2545-2A>C)
c.392-2A>C
c.549-2A>C
n.2673-2A>C
c.2578-2A>C (n.2578-2A>C)
 gnomAD v4
12g.51765669A>GCA384886378SCN8Ac.2545-2A>G (n.2545-2A>G)
c.392-2A>G
c.549-2A>G
n.2673-2A>G
c.2578-2A>G (n.2578-2A>G)
 gnomAD v4
12g.51765669A>TCA384886386SCN8Ac.2545-2A>T (n.2545-2A>T)
c.392-2A>T
c.549-2A>T
n.2673-2A>T
c.2578-2A>T (n.2578-2A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765669_51765670delCA2795979521SCN8Ac.2545-2_2545-1del (n.2545-2_2545-1del)
c.392-2_392-1del
c.549-2_549-1del
n.2673-2_2673-1del
c.2578-2_2578-1del (n.2578-2_2578-1del)
12g.51765669_51765671delCA947681525SCN8Ac.2545-2_2545del
c.392-2_392del
c.549-2_549del
n.2673-2_2673del
c.2578-2_2578del
 gnomAD v3 gnomAD v4
12g.51765669_51765674delCA2618840716SCN8Ac.2545-2_2548del
c.392-2_395del
c.549-2_552del
n.2673-2_2676del
c.2578-2_2581del
 gnomAD v4
12g.51765669_51765676delCA2795979522SCN8Ac.2545-2_2550del
c.392-2_397del
c.549-2_554del
n.2673-2_2678del
c.2578-2_2583del
12g.51765670delCA2618840717SCN8Ac.2545-1del (n.2545-1del)
c.392-1del
c.549-1del
n.2673-1del
c.2578-1del (n.2578-1del)
 gnomAD v4
12g.51765670G>ACA384886396SCN8Ac.2545-1G>A (n.2545-1G>A)
c.392-1G>A
c.549-1G>A
n.2673-1G>A
c.2578-1G>A (n.2578-1G>A)
 gnomAD v4
12g.51765670G>CCA384886402SCN8Ac.2545-1G>C (n.2545-1G>C)
c.392-1G>C
c.549-1G>C
n.2673-1G>C
c.2578-1G>C (n.2578-1G>C)
 gnomAD v4
12g.51765670G=CA2036183853SCN8Ac.2545-1G= (n.2545-1G=)
c.392-1G=
c.549-1G=
n.2673-1G=
c.2578-1G= (n.2578-1G=)
12g.51765670G>TCA384886393SCN8Ac.2545-1G>T (n.2545-1G>T)
c.392-1G>T
c.549-1G>T
n.2673-1G>T
c.2578-1G>T (n.2578-1G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765670_51765671insTTTTTCA2795979523SCN8Ac.2545-1_2545insTTTTT (n.2545-1_2545insTTTTT)
c.392-1_392insTTTTT
c.549-1_549insTTTTT
n.2673-1_2673insTTTTT
c.2578-1_2578insTTTTT (n.2578-1_2578insTTTTT)
12g.51765671C>ACA384886405SCN8Ac.2545C>A (p.Leu849Ile)
c.392C>A
c.549C>A
n.2673C>A
c.2578C>A (p.Leu860Ile)
 gnomAD v4
12g.51765671C>GCA384886408SCN8Ac.2545C>G (p.Leu849Val)
c.392C>G
c.549C>G
n.2673C>G
c.2578C>G (p.Leu860Val)
 gnomAD v4
12g.51765671C>TCA384886409SCN8Ac.2545C>T (p.Leu849Phe)
c.392C>T
c.549C>T
n.2673C>T
c.2578C>T (p.Leu860Phe)
 gnomAD v3 gnomAD v4
12g.51765672T>ACA384886415SCN8Ac.2546T>A (p.Leu849His)
c.393T>A
c.550T>A
n.2674T>A
c.2579T>A (p.Leu860His)
 ClinVar dbSNP
12g.51765672T>CCA384886420SCN8Ac.2546T>C (p.Leu849Pro)
c.393T>C
c.550T>C
n.2674T>C
c.2579T>C (p.Leu860Pro)
 gnomAD v4
12g.51765672T>GCA384886429SCN8Ac.2546T>G (p.Leu849Arg)
c.393T>G
c.550T>G
n.2674T>G
c.2579T>G (p.Leu860Arg)
12g.51765672T=CA2036183857SCN8Ac.2546T= (p.Leu849=)
c.393T=
c.550T=
n.2674T=
c.2579T= (p.Leu860=)
12g.51765672_51765673insTTTTTCA2618840718SCN8Ac.2546_2547insTTTTT (p.Arg850PhefsTer14)
c.393_394insTTTTT
c.550_551insTTTTT
n.2674_2675insTTTTT
c.2579_2580insTTTTT (p.Arg861PhefsTer14)
 gnomAD v4
12g.51765673C>ACA480061041SCN8Ac.2547C>A (p.Leu849=)
c.394C>A
c.551C>A
n.2675C>A
c.2580C>A (p.Leu860=)
 gnomAD v4
12g.51765673C>GCA480061043SCN8Ac.2547C>G (p.Leu849=)
c.394C>G
c.551C>G
n.2675C>G
c.2580C>G (p.Leu860=)
 gnomAD v4
12g.51765673C>TCA480061045SCN8Ac.2547C>T (p.Leu849=)
c.394C>T
c.551C>T
n.2675C>T
c.2580C>T (p.Leu860=)
 ClinVar dbSNP gnomAD v4
12g.51765673_51765675delCA947681526SCN8Ac.2547_2549del (p.Arg850del)
c.394_396del
c.551_553del
n.2675_2677del
c.2580_2582del (p.Arg861del)
 gnomAD v3 gnomAD v4
12g.51765674C>ACA480061046SCN8Ac.2548C>A (p.Arg850=)
c.395C>A
c.552C>A
n.2676C>A
c.2581C>A (p.Arg861=)
 gnomAD v4
12g.51765674C=CA2036183863SCN8Ac.2548C= (p.Arg850=)
c.395C=
c.552C=
n.2676C=
c.2581C= (p.Arg861=)
12g.51765674C>GCA384886433SCN8Ac.2548C>G (p.Arg850Gly)
c.395C>G
c.552C>G
n.2676C>G
c.2581C>G (p.Arg861Gly)
 ClinVar dbSNP
12g.51765674C>TCA384886453SCN8Ac.2548C>T (p.Arg850Ter)
c.395C>T
c.552C>T
n.2676C>T
c.2581C>T (p.Arg861Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51765675G>ACA163107SCN8Ac.2549G>A (p.Arg850Gln)
c.396G>A
c.553G>A
n.2677G>A
c.2582G>A (p.Arg861Gln)
 ClinVar dbSNP gnomAD v4
12g.51765675G>CCA384886490SCN8Ac.2549G>C (p.Arg850Pro)
c.396G>C
c.553G>C
n.2677G>C
c.2582G>C (p.Arg861Pro)
 gnomAD v4
12g.51765675G=CA2036183871SCN8Ac.2549G= (p.Arg850=)
c.396G=
c.553G=
n.2677G=
c.2582G= (p.Arg861=)
12g.51765675G>TCA384886499SCN8Ac.2549G>T (p.Arg850Leu)
c.396G>T
c.553G>T
n.2677G>T
c.2582G>T (p.Arg861Leu)
 gnomAD v3 gnomAD v4
12g.51765676A=CA2036183880SCN8Ac.2550A= (p.Arg850=)
c.397A=
c.554A=
n.2678A=
c.2583A= (p.Arg861=)
12g.51765676A>CCA236317086SCN8Ac.2550A>C (p.Arg850=)
c.397A>C
c.554A>C
n.2678A>C
c.2583A>C (p.Arg861=)
 dbSNP gnomAD v4
12g.51765676A>GCA480061048SCN8Ac.2550A>G (p.Arg850=)
c.397A>G
c.554A>G
n.2678A>G
c.2583A>G (p.Arg861=)
 gnomAD v4
12g.51765676A>TCA480061049SCN8Ac.2550A>T (p.Arg850=)
c.397A>T
c.554A>T
n.2678A>T
c.2583A>T (p.Arg861=)
 gnomAD v3 gnomAD v4
12g.51765677G>ACA384886517SCN8Ac.2551G>A (p.Val851Ile)
c.398G>A
c.555G>A
n.2679G>A
c.2584G>A (p.Val862Ile)
12g.51765677G>CCA384886520SCN8Ac.2551G>C (p.Val851Leu)
c.398G>C
c.555G>C
n.2679G>C
c.2584G>C (p.Val862Leu)
 ClinVar
12g.51765677G>TCA384886511SCN8Ac.2551G>T (p.Val851Phe)
c.398G>T
c.555G>T
n.2679G>T
c.2584G>T (p.Val862Phe)
 gnomAD v4
12g.51765678T>ACA384886528SCN8Ac.2552T>A (p.Val851Asp)
c.399T>A
c.556T>A
n.2680T>A
c.2585T>A (p.Val862Asp)
 gnomAD v4
12g.51765678T>CCA384886532SCN8Ac.2552T>C (p.Val851Ala)
c.399T>C
c.556T>C
n.2680T>C
c.2585T>C (p.Val862Ala)
 gnomAD v4
12g.51765678T>GCA384886537SCN8Ac.2552T>G (p.Val851Gly)
c.399T>G
c.556T>G
n.2680T>G
c.2585T>G (p.Val862Gly)
 gnomAD v4
12g.51765679C>ACA480061055SCN8Ac.2553C>A (p.Val851=)
c.400C>A
c.557C>A
n.2681C>A
c.2586C>A (p.Val862=)
 gnomAD v4
12g.51765679C=CA2036183882SCN8Ac.2553C= (p.Val851=)
c.400C=
c.557C=
n.2681C=
c.2586C= (p.Val862=)
12g.51765679C>GCA480061053SCN8Ac.2553C>G (p.Val851=)
c.400C>G
c.557C>G
n.2681C>G
c.2586C>G (p.Val862=)
 gnomAD v4
12g.51765679C>TCA480061054SCN8Ac.2553C>T (p.Val851=)
c.400C>T
c.557C>T
n.2681C>T
c.2586C>T (p.Val862=)
 dbSNP gnomAD v3 gnomAD v4
12g.51765680T>ACA384886542SCN8Ac.2554T>A (p.Phe852Ile)
c.401T>A
c.558T>A
n.2682T>A
c.2587T>A (p.Phe863Ile)
12g.51765680T>CCA384886563SCN8Ac.2554T>C (p.Phe852Leu)
c.401T>C
c.558T>C
n.2682T>C
c.2587T>C (p.Phe863Leu)
12g.51765680T>GCA384886566SCN8Ac.2554T>G (p.Phe852Val)
c.401T>G
c.558T>G
n.2682T>G
c.2587T>G (p.Phe863Val)

Number of alleles fetched